Mutation Name (cDNA Nomenclature)	Mutation Status	Protein Nomenclature	Amino Acid Position	Exon #	Wild Type Codon	Mutation Type (Ts/Tv)	Mutant codon	Mutational event	Structure	HCD (Highly Conserved Domain)	Protein (Protein Level)	mRNA (Impact at the mRNA Level)	Sample ID	721	Gender	Proband-Relative (Patient Status)	Geographic Origin	Phenotypic Group	Reference # in UMD-DYSF
c.20T>C	Homozygous	p.Leu7Pro	7	1	CTC	Ts	CCC	T->C	C2 Domain A		Reduced		F1-337-1-2	1	Female	Proband		Miyoshi myopathy	0
c.89_4410del	Homozygous	p.Val31GlyfsX29	30	1_2	GGG	Fr.	del4322b	Stop at 59	C2 Domain A		Present	r.89_4410del	F1-26-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	60
c.89_236del	Heterozygous	p.Val31SerfsX71	30	1_2	GGG	Fr.	del148b	Stop at 101	C2 Domain A		Absent		US32-11-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.89_236del	Homozygous	p.Val31SerfsX71	30	1_2	GGG	Fr.	del148b	Stop at 101	C2 Domain A		No data		US32-17-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.94A>T	Heterozygous	p.Lys32X	32	2	AAG	Tv	TAG	A->T	C2 Domain A		Reduced		IT9-48-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.105delC	Heterozygous	p.Val37SerfsX6	35	2	ACC	Fr.	del1c	Stop at 42	C2 Domain A				C12-2-1-1	1	Male	Proband	CHINA	Miyoshi myopathy	26
c.107_108delAA	Heterozygous	p.Lys36SerfsX12	36	2	AAA	Fr.	del2b	Stop at 47	C2 Domain A		Absent		F1-103-1-1	1	Male	Proband	FRANCE	LGMD2B	1
c.107_108delAA	Heterozygous	p.Lys36SerfsX12	36	2	AAA	Fr.	del2b	Stop at 47	C2 Domain A				F1-96-1-2	0	Female	Proband	FRANCE	Miyoshi myopathy	1
c.107_108delAA	Heterozygous	p.Lys36SerfsX12	36	2	AAA	Fr.	del2b	Stop at 47	C2 Domain A				UK2-33-1-0	0	Unknown	Proband		Miyoshi myopathy	54
c.107_108delAA	Heterozygous	p.Lys36SerfsX12	36	2	AAA	Fr.	del2b	Stop at 47	C2 Domain A				UK2-33-2-0	0	Unknown	Relative		Miyoshi myopathy	54
c.136T>C	Heterozygous	p.Trp46Arg	46	2	TGG	Ts	CGG	T->C	C2 Domain A		Absent		F1-330-1-1	1	Male	Proband	CHINA (Han population)	LGMD2B	72
c.140_146dup	Heterozygous	p.Gly49X	47	2	AAT	Fr.	ins4b	Stop at 49	C2 Domain A		Absent		F1-304-1-1	1	Male	Proband	CHINA (Han population)	LGMD2B	72
c.154T>C	Heterozygous	p.Trp52Arg	52	3	TGG	Ts	CGG	T->C	C2 Domain A				F1-92-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.154T>C	Heterozygous	p.Trp52Arg	52	3	TGG	Ts	CGG	T->C	C2 Domain A		Absent		S13-24-1-0	1	Unknown	Proband	SPAIN	LGMD2B	35
c.164dup	Homozygous	p.Ile57HisfsX8	55	3	AAG	Fr.	ins1c	Stop at 64	C2 Domain A				USJP3-1-1-0	1	Unknown	Proband	SAUDI ARABIA	Miyoshi myopathy	8
c.175delC	Homozygous	p.Leu59TrpfsX92	59	3	CTG	Fr.	del1a	Stop at 150	C2 Domain A				UK2-27-1-0	1	Unknown	Proband		Miyoshi myopathy	54
c.200_201delinsAT	Homozygous	p.Val67	68	3	GTG	indels	indels	indels	C2 Domain A				R6-1-1-2	1	Female	Proband	RUSSIA	LGMD2B	20
c.200_201delinsAT	Homozygous	p.Val67	68	3	GTG	indels	indels	indels	C2 Domain A				R6-1-10-2	1	Female	Relative	RUSSIA	Miyoshi myopathy	20
c.200_201delinsAT	Homozygous	p.Val67	68	3	GTG	indels	indels	indels	C2 Domain A				R6-1-11-1	1	Male	Relative	RUSSIA	Miyoshi myopathy	20
c.200_201delinsAT	Homozygous	p.Val67	68	3	GTG	indels	indels	indels	C2 Domain A				R6-1-12-1	1	Male	Relative	RUSSIA	presymptomatic	20
c.200_201delinsAT	Homozygous	p.Val67	68	3	GTG	indels	indels	indels	C2 Domain A				R6-1-2-1	1	Male	Relative	RUSSIA	LGMD2B	20
c.200_201delinsAT	Homozygous	p.Val67	68	3	GTG	indels	indels	indels	C2 Domain A				R6-1-3-2	1	Female	Relative	RUSSIA	LGMD2B	20
c.200_201delinsAT	Homozygous	p.Val67	68	3	GTG	indels	indels	indels	C2 Domain A				R6-1-4-1	1	Male	Relative	RUSSIA	LGMD2B	20
c.200_201delinsAT	Homozygous	p.Val67	68	3	GTG	indels	indels	indels	C2 Domain A				R6-1-5-2	1	Female	Relative	RUSSIA	LGMD2B	20
c.200_201delinsAT	Homozygous	p.Val67	68	3	GTG	indels	indels	indels	C2 Domain A				R6-1-6-2	1	Female	Relative	RUSSIA	LGMD2B	20
c.200_201delinsAT	Homozygous	p.Val67	68	3	GTG	indels	indels	indels	C2 Domain A				R6-1-7-1	1	Male	Relative	RUSSIA	LGMD2B	20
c.200_201delinsAT	Homozygous	p.Val67	68	3	GTG	indels	indels	indels	C2 Domain A				R6-1-8-1	1	Male	Relative	RUSSIA	LGMD2B	20
c.200_201delinsAT	Homozygous	p.Val67	68	3	GTG	indels	indels	indels	C2 Domain A				R6-1-9-1	1	Male	Relative	RUSSIA	Miyoshi myopathy	20
c.IVS3+1G>T (c.236+1G>T)	Heterozygous		79	2_3	AGG	Tv	spl+1	G->T	C2 Domain A		Absent	r.143_236del (exon 3 skipping)	T24-3-1-2	0	Female	Proband	THAILAND	Miyoshi myopathy	53
c.IVS3+1G>T (c.236+1G>T)	Heterozygous		79	2_3	AGG	Tv	spl+1	G->T	C2 Domain A		Absent	r.143_236del (exon 3 skipping)	T24-3-2-2	0	Female	Relative	THAILAND	Miyoshi myopathy	53
c.247delG	Heterozygous	p.Glu83LysfsX68	83	4	GAA	Fr.	del1a	Stop at 150	C2 Domain A		Reduced		F1-150-1-2	1	Female	Proband	ITALIA	proximodistal	1
c.247delG	Heterozygous	p.Glu83LysfsX68	83	4	GAA	Fr.	del1a	Stop at 150	C2 Domain A				F1-150-2-2	1	Female	Relative	ITALIA	LGMD2B	1
c.265C>T	Heterozygous	p.Arg89X	89	4	CGA	Ts	TGA	C->T			Absent		F1-112-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.265C>T	Homozygous	p.Arg89X	89	4	CGA	Ts	TGA	C->T					F1-7-1-2	1	Female	Proband	ALGERIA	Miyoshi myopathy	1
c.265C>T	Heterozygous	p.Arg89X	89	4	CGA	Ts	TGA	C->T					G8-2-1-2	1	Female	Proband	AUSTRIA	Miyoshi myopathy	22
c.265C>T	Heterozygous	p.Arg89X	89	4	CGA	Ts	TGA	C->T			No data		JP28-38-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	61
c.265C>T	Homozygous	p.Arg89X	89	4	CGA	Ts	TGA	C->T			Absent		T24-1-1-1	1	Male	Proband	THAILAND	Miyoshi myopathy	53
c.265C>T	Heterozygous	p.Arg89X	89	4	CGA	Ts	TGA	C->T			Reduced		UK31-1-1-1	1	Male	Proband	WESTERN AFRICA	Miyoshi myopathy, atypical	73
c.313dup	Heterozygous	p.Leu105ProfsX43	105	4	CTG	Fr.	ins1b	Stop at 147					G14-1-1-1	0	Male	Proband	MACEDONIA	LGMD2B	28
c.313dup	Heterozygous	p.Leu105ProfsX43	105	4	CTG	Fr.	ins1b	Stop at 147			Absent		K10-4-1-2	1	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	LGMD2B	68
c.313dup	Heterozygous	p.Leu105ProfsX43	105	4	CTG	Fr.	ins1b	Stop at 147					G14-1-2-2	0	Female	Relative	MACEDONIA	LGMD2B	28
c.329delA	Heterozygous	p.Lys110SerfsX41	110	4	AAG	Fr.	del1b	Stop at 150			Absent		F1-313-1-2	1	Female	Proband	CHINA (Han population)	Miyoshi myopathy	72
c.331C>T	Heterozygous	p.Gln111X	111	4	CAG	Ts	TAG	C->T					F1-85-1-2	1	Female	Proband	IRAN	Miyoshi myopathy	1
c.331C>T	Homozygous	p.Gln111X	111	4	CAG	Ts	TAG	C->T			Absent		IT9-12-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.331C>T	Heterozygous	p.Gln111X	111	4	CAG	Ts	TAG	C->T			Reduced		IT9-18-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.331C>T	Homozygous	p.Gln111X	111	4	CAG	Ts	TAG	C->T			Absent		IT9-49-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.331C>T	Homozygous	p.Gln111X	111	4	CAG	Ts	TAG	C->T			Absent		IT9-12-2-0	1	Unknown	Relative		LGMD2B or Miyoshi myopathy	64
c.331C>T	Heterozygous	p.Gln111X	111	4	CAG	Ts	TAG	C->T			Reduced		IT9-18-2-0	1	Unknown	Relative		LGMD2B or Miyoshi myopathy	64
c.IVS4+1G>A (c.342+1G>A)	Heterozygous		114	4	GGG		spl+1	G>A			No data	r.spl?	JP28-33-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.343_457del	Homozygous	p.Ala115ThrfsX74	115	5	GCC	Fr.	del115a	Stop at 188			Absent		F1-214-1-1	1	Male	Proband		proximodistal	55
c.347_353dup	Heterozygous	p.Val118AlafsX31	116	5	TCG	Fr.	ins4b	Stop at 148			Absent		F1-301-1-2	1	Female	Proband	CHINA (Han population)	DMAT	72
c.353delT	Heterozygous	p.Val118AlafsX33	118	5	GTC	Fr.	del1b	Stop at 150			Reduced		UK2-55-1-2	0	Female	Proband	IRELAND	LGMD2B	63
c.353delT	Heterozygous	p.Val118AlafsX33	118	5	GTC	Fr.	del1b	Stop at 150			Reduced		US26-9-1-1	1	Male	Proband		LGMD2B	58
c.353delT	Heterozygous	p.Val118AlafsX33	118	5	GTC	Fr.	del1b	Stop at 150			No data		US32-13-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.383G>A	Heterozygous	p.Gly128Glu	128	5	GGA	Ts	GAA	G->A			Reduced	r.383G>A	IT9-50-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.IVS5+1insG (c.457+1insG)	Homozygous		153	5_6	GAC	Tv	spl+1	insG			Absent	r.spl?	F1-104-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.IVS5+2T>G (c.457+2T>G)	Heterozygous		153	5_6	GAC	Tv	spl+2	T->G			Reduced	r.343_457del (exon 5 skipping)	IT4-19-1-2	1	Female	Proband	ITALIA	LGMD2B	17
c.463G>A	Heterozygous	p.Gly155Arg	155	6	GGA	Ts	AGA	G->A					F1-20-1-2	1	Female	Proband	MAGHREB	LGMD2B	1
c.482_483delAG	Heterozygous	p.Glu161GlyfsX8	161	6	GAG	Fr.	del2b	Stop at 168			Absent		F1-305-1-2	1	Female	Proband	CHINA (Han population)	LGMD2B	72
c.490G>T	Heterozygous	p.Gly164X	164	6	GGA	Tv	TGA	G->T			Absent		F1-131-1-1	1	Male	Proband	FRANCE	proximodistal	1
c.490G>T	Heterozygous	p.Gly164X	164	6	GGA	Tv	TGA	G->T			Absent		F1-21-1-2	0	Female	Proband	FRANCE	isolated hyperCKaemia	1
c.490G>T	Heterozygous	p.Gly164X	164	6	GGA	Tv	TGA	G->T			No data		F1-21-2-2	0	Female	Relative	FRANCE	isolated hyperCKaemia	1
c.493delC	Homozygous	p.Leu165SerfsX62	165	6	CTC	Fr.	del1a	Stop at 226			No data		JP28-36-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.509C>A	Heterozygous	p.Ala170Glu	170	6	GCG	Tv	GAG	C->A			Absent		F1-113-1-1	1	Male	Proband	FRANCE	isolated hyperCKaemia	1
c.509C>A	Heterozygous	p.Ala170Glu	170	6	GCG	Tv	GAG	C->A					F1-169-1-1	1	Male	Proband	LEIBANON	LGMD2B	1
c.509C>A	Heterozygous	p.Ala170Glu	170	6	GCG	Tv	GAG	C->A			Reduced		F1-443-1-1	1	Male	Proband		LGMD2B	81
c.509C>A	Heterozygous	p.Ala170Glu	170	6	GCG	Tv	GAG	C->A			Absent		IT4-13-1-1	1	Male	Proband	ITALIA	Miyoshi myopathy	17
c.509C>A	Homozygous	p.Ala170Glu	170	6	GCG	Tv	GAG	C->A					UK2-49-1-0	1	Unknown	Proband		LGMD2B	54
c.526C>T	Homozygous	p.Gln176X	176	6	CAA	Ts	TAA	C->T			Absent		T24-2-1-1	1	Male	Proband	THAILAND	Miyoshi myopathy	53
c.536G>A	Heterozygous	p.Gly179Asp	179	6	GGC	Ts	GAC	G->A			Reduced	r.536G>A	IT9-50-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.539dup	Heterozygous	p.Ala182GlyfsX29	180	6	CCG	Fr.	ins1c	Stop at 210			Absent		US21-14-1-2	0	Female	Proband		LGMD2B or Miyoshi myopathy	50
c.565C>G	Homozygous	p.Leu189Val	189	6	CTA	Tv	GTA	C->G			Absent		F1-18-1-2	0	Female	Proband	MAGHREB	proximodistal	1
c.565C>G	Heterozygous	p.Leu189Val	189	6	CTA	Tv	GTA	C->G					H20-1-1-2	1	Female	Proband	SURINAM	LGMD2B	42
c.581C>A	Heterozygous	p.Pro194Gln	194	6	CCG	Tv	CAG	C->A			Absent		C35-3-1-2	0	Female	Proband	CHINA	LGMD2B	80
c.591C>G	Heterozygous	p.Tyr197X	197	6	TAC	Tv	TAG	C->G			Absent		F1-133-1-1	1	Male	Proband	FRANCE	LGMD2B	1
c.593_594dup	Heterozygous	p.Gly199ProfsX29	199	6	GGG	Fr.	ins2a	Stop at 227			Absent		S13-5-1-0	0	Unknown	Proband	SPAIN	LGMD2B	35
c.593_594dup	Heterozygous	p.Gly199ProfsX29	199	6	GGG	Fr.	ins2a	Stop at 227			Absent		S13-5-2-0	0	Unknown	Relative	SPAIN	LGMD2B	35
c.610C>T	Heterozygous	p.Arg204X	204	6	CGA	Ts	TGA	C->T			Absent		C35-2-1-1	1	Male	Proband	CHINA	Miyoshi myopathy	80
c.610C>T	Heterozygous	p.Arg204X	204	6	CGA	Ts	TGA	C->T			Absent		F1-49-1-2	0	Female	Proband	FRANCE	Miyoshi myopathy	1
c.610C>T	Heterozygous	p.Arg204X	204	6	CGA	Ts	TGA	C->T			Reduced		F1-76-1-1	0	Male	Proband	FRANCE	Miyoshi myopathy	1
c.610C>T	Homozygous	p.Arg204X	204	6	CGA	Ts	TGA	C->T			No data		JP28-34-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.610C>T	Heterozygous	p.Arg204X	204	6	CGA	Ts	TGA	C->T			Absent		K10-16-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.610C>T	Heterozygous	p.Arg204X	204	6	CGA	Ts	TGA	C->T			Absent		US21-1-1-2	1	Female	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	46
c.610C>T	Heterozygous	p.Arg204X	204	6	CGA	Ts	TGA	C->T			Reduced		US26-14-1-1	1	Male	Proband		Miyoshi myopathy	58
c.610C>T	Heterozygous	p.Arg204X	204	6	CGA	Ts	TGA	C->T			No data		US26-25-1-1	1	Male	Proband	U.S.A.	Miyoshi myopathy	66
c.610C>T	Heterozygous	p.Arg204X	204	6	CGA	Ts	TGA	C->T			Reduced		US26-7-1-1	1	Male	Proband		LGMD2B	58
c.610C>T	Heterozygous	p.Arg204X	204	6	CGA	Ts	TGA	C->T			No data		US32-24-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.610C>T	Heterozygous	p.Arg204X	204	6	CGA	Ts	TGA	C->T			No data		US26-14-2-1	1	Male	Relative		Miyoshi myopathy	58
c.IVS6+1G>C (c.663+1G>C)	Heterozygous		221	6	CAG		spl+1	G>C			Absent	r.spl?	K10-10-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.IVS6+1G>C (c.663+1G>C)	Heterozygous		221	6	CAG		spl+1	G>C			Absent	r.spl?	K10-12-1-2	1	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.IVS6+1G>C (c.663+1G>C)	Heterozygous		221	6	CAG		spl+1	G>C			Absent	r.spl?	K10-14-1-2	1	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.IVS6+1G>C (c.663+1G>C)	Heterozygous		221	6	CAG		spl+1	G>C			Absent	r.spl?	K10-15-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.IVS6+1G>C (c.663+1G>C)	Heterozygous		221	6	CAG		spl+1	G>C			Absent	r.spl?	K10-21-1-2	1	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.IVS6+1G>C (c.663+1G>C)	Heterozygous		221	6	CAG		spl+1	G>C			No data	r.spl?	US32-21-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.IVS6+1G>C (c.663+1G>C)	Homozygous		221	6	CAG	Tv	spl+1	G->C				r.spl?	USJP3-24-1-2	1	Female	Proband	JAPAN	Miyoshi myopathy	12
c.IVS6+1G>C (c.663+1G>C)	Heterozygous		221	6	CAG	Tv	spl+1	G->C				r.spl?	USJP3-44-1-2	1	Female	Proband	JAPAN	Miyoshi myopathy	13
c.IVS6+1G>C (c.663+1G>C)	Heterozygous		221	6	CAG	Tv	spl+1	G->C				r.spl?	USJP3-44-2-2	1	Female	Relative	JAPAN	Miyoshi myopathy	13
c.IVS6+1G>C (c.663+1G>C)	Heterozygous		221	6	CAG	Tv	spl+1	G->C				r.spl?	USJP3-44-3-1	1	Male	Relative	JAPAN	Miyoshi myopathy	13
c.IVS6+1G>C (c.663+1G>C)	Heterozygous		221	6	CAG	Tv	spl+1	G->C				r.spl?	USJP3-44-4-1	1	Male	Relative	JAPAN	Miyoshi myopathy	13
c.IVS6+1G>C (c.663+1G>C)	Heterozygous		221	6	CAG	Tv	spl+1	G->C			Absent	r.spl?	K10-17-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.IVS6-9del (c.664-9del)	Heterozygous		222	7	ATC	Tv	spl-9	del				r.spl?	UK2-38-1-0	0	Unknown	Proband		Miyoshi myopathy	54
c.691C>T	Heterozygous	p.Gln231X	231	7	CAG	Ts	TAG	C->T	C2 Domain B		Absent	r.691C>U	IT9-52-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.691C>T	Heterozygous	p.Gln231X	231	7	CAG	Ts	TAG	C->T	C2 Domain B				UK2-49-1-0	0	Unknown	Proband		LGMD2B	54
c.691C>T	Heterozygous	p.Gln231X	231	7	CAG	Ts	TAG	C->T	C2 Domain B				USJP3-33-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	13
c.701G>A	Heterozygous	p.Gly234Glu	234	7	GGG	Ts	GAG	G->A	C2 Domain B		Absent		F1-50-1-2	0	Female	Proband	FRANCE	LGMD2B	1
c.701G>A	Heterozygous	p.Gly234Glu	234	7	GGG	Ts	GAG	G->A	C2 Domain B		Absent		S13-24-1-0	0	Unknown	Proband	SPAIN	LGMD2B	35
c.1966A>G	Heterozygous	p.Lys656Glu	240	7	GTG	Ts	GAA	A->G	C2 Domain B		Reduced	r.1966A>G	IT9-64-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.742C>T	Heterozygous	p.Gln248X	248	7	CAG	Ts	TAG	C->T	C2 Domain B		No data		US32-35-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.755C>T	Homozygous	p.Thr252Met	252	7	ACG	Ts	ATG	C->T	C2 Domain B		Reduced		IT9-23-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.755C>T	Heterozygous	p.Thr252Met	252	7	ACG	Ts	ATG	C->T	C2 Domain B		No data		US32-16-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.757C>T	Heterozygous	p.Arg253Trp	253	7	CGG	Ts	TGG	C->T	C2 Domain B		Absent		F1-155-1-2	0	Female	Proband	FRANCE	unknown	1
c.757C>T	Heterozygous	p.Arg253Trp	253	7	CGG	Ts	TGG	C->T	C2 Domain B		Absent		F1-427-1-1	1	Male	Proband		isolated hyperCKaemia	0
c.792G>C	Heterozygous	p.Glu264Asp	264	7	GAG	Tv	GAC	G->C	C2 Domain B		No data		US32-30-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.796_797delCT	Heterozygous	p.Leu266PhefsX6	266	8	CTT	Fr.	del2a	Stop at 271	C2 Domain B		Absent		AUS19-4-1-0	1	Unknown	Proband	AUSTRALIA	LGMD2B	40
c.797T>C	Heterozygous	p.Leu266Pro	266	8	CTT	Ts	CCT	T->C	C2 Domain B		Reduced		F1-74-1-2	1	Female	Proband	FRANCE	pseudometabolic	1
c.797T>G	Heterozygous	p.Leu266Arg	266	8	CTT	Tv	CGT	T->G	C2 Domain B		Absent		US32-6-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.799_800delTT	Heterozygous	p.Phe267LeufsX5	267	8	TTC	Fr.	del2a	Stop at 271	C2 Domain B		Absent		F1-154-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.799_800delTT	Heterozygous	p.Phe267LeufsX5	267	8	TTC	Fr.	del2a	Stop at 271	C2 Domain B		No data		F1-312-1-2	1	Female	Proband	CHINA (Han population)	LGMD2B	72
c.799_800delTT	Heterozygous	p.Phe267LeufsX5	267	8	TTC	Fr.	del2a	Stop at 271	C2 Domain B		Absent		F1-327-1-2	1	Female	Proband	CHINA (Han population)	Miyoshi myopathy	72
c.827delA	Heterozygous	p.Glu276GlyfsX12	276	8	GAG	Fr.	del1b	Stop at 287	C2 Domain B				UK2-34-1-0	0	Unknown	Proband		LGMD2B	54
c.827delA	Heterozygous	p.Glu276GlyfsX12	276	8	GAG	Fr.	del1b	Stop at 287	C2 Domain B		No data		UK2-34-2-1	1	Male	Relative		unknown	54
c.845T>C	Heterozygous	p.Ile282Thr	282	8	ATC	Ts	ACC	T->C	C2 Domain B		Absent		K10-10-1-1	0	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.845T>C	Heterozygous	p.Ile282Thr	282	8	ATC	Ts	ACC	T->C	C2 Domain B		Absent		K10-3-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.851T>C	Heterozygous	p.Ile284Thr	284	8	ATC	Ts	ACC	T->C	C2 Domain B		Absent		F1-57-1-1	1	Male	Proband	FRANCE	LGMD2B	1
c.IVS8+1delG (c.855+1delG)	Heterozygous		285	8	ACG	Tv	spl+1	delG			Absent	r.spl?	F1-1-1-1	1	Male	Proband	FRANCE	proximodistal	1
c.IVS8+1delG (c.855+1delG)	Homozygous		285	8	ACG	Tv	spl+1	delG				r.spl?	F1-119-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.IVS8+1delG (c.855+1delG)	Heterozygous		285	8	ACG	Tv	spl+1	delG			Absent	r.spl?	F1-123-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.IVS8+1delG (c.855+1delG)	Heterozygous		285	8	ACG	Tv	spl+1	delG			Absent	r.spl?	F1-13-1-1	0	Male	Proband	FRANCE	Miyoshi myopathy	1
c.IVS8+1delG (c.855+1delG)	Heterozygous		285	8	ACG	Tv	spl+1	delG			Absent	r.spl?	F1-135-1-2	0	Female	Proband	FRANCE	Miyoshi myopathy	1
c.IVS8+1delG (c.855+1delG)	Heterozygous		285	8	ACG	Tv	spl+1	delG				r.spl?	F1-159-1-0	1	Unknown	Proband	SWITZERLAND	LGMD2B	1
c.IVS8+1delG (c.855+1delG)	Heterozygous		285	8	ACG	Tv	spl+1	delG			Absent	r.spl?	F1-170-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.IVS8+1delG (c.855+1delG)	Heterozygous		285	8	ACG	Tv	spl+1	delG	C2 Domain B		Absent		F1-450-1-2	1	Female	Proband		Miyoshi myopathy	0
c.IVS8+1delG (c.855+1delG)	Heterozygous		285	8	ACG	Tv	spl+1	delG	C2 Domain B		Absent	r.spl?	F1-63-1-2	1	Female	Proband	FRANCE	proximodistal	1
c.IVS8+1delG (c.855+1delG)	Heterozygous		285	8	ACG	Tv	spl+1	delG			Reduced	r.spl?	F1-76-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.IVS8+1delG (c.855+1delG)	Heterozygous		285	8	ACG	Tv	spl+1	delG				r.spl?	G16-2-1-1	1	Male	Proband	GERMANY	LGMD2B	30
c.IVS8+1delG (c.855+1delG)	Heterozygous		285	8	ACG	Tv	spl+1	delG				r.spl?	UK2-52-1-0	0	Unknown	Proband		proximodistal	54
c.IVS8+1delG (c.855+1delG)	Heterozygous		285	8	ACG	Tv	spl+1	delG			No data	r.spl?	US26-17-1-1	1	Male	Proband		Miyoshi myopathy	58
c.IVS8+1delG (c.855+1delG)	Heterozygous		285	8	ACG	Tv	spl+1	delG				r.spl?	F1-159-2-0	1	Unknown	Relative	SWITZERLAND	LGMD2B	1
c.IVS8+1delG (c.855+1delG)	Heterozygous		285	8	ACG	Tv	spl+1	delG				r.spl?	F1-170-2-2	1	Female	Relative	FRANCE	Miyoshi myopathy	1
c.IVS8+1delG (c.855+1delG)	Heterozygous		285	8	ACG	Tv	spl+1	delG				r.spl?	G16-2-2-2	1	Female	Relative	GERMANY	LGMD2B	30
c.857T>A	Heterozygous	p.Val286Glu	286	9	GTG	Tv	GAG	T->A	C2 Domain B		Absent		US21-15-1-1	1	Male	Proband		LGMD2B or Miyoshi myopathy	50
c.863A>T	Heterozygous	p.Asp288Val	288	9	GAC	Tv	GTC	A->T	C2 Domain B	Calcium binding 288	Absent		F1-303-1-1	1	Male	Proband	CHINA (Han population)	LGMD2B	72
c.863A>T	Heterozygous	p.Asp288Val	288	9	GAC	Tv	GTC	A->T	C2 Domain B	Calcium binding 288	Absent		F1-321-1-1	1	Male	Proband	CHINA (Han population)	isolated hyperCKaemia	72
c.863dup	Heterozygous	p.Asp288GlufsX40	288	9	GAC	Fr.	ins1b	Stop at 327	C2 Domain B	Calcium binding 288			G8-1-1-2	1	Female	Proband	GERMANY	LGMD2B	22
c.879_883dup	Heterozygous	p.Asp295GlyfsX45	295	9	GAT	Fr.	ins5b	Stop at 339	C2 Domain B		Absent		F1-205-1-1	1	Male	Proband	U.S.A.	Miyoshi myopathy	1
c.893T>C	Heterozygous	p.Leu298Pro	298	9	CTC	Ts	CCC	T->C	C2 Domain B		Absent		F1-379-1-1	1	Male	Proband		Miyoshi myopathy	81
c.895G>A	Heterozygous	p.Gly299Arg	299	9	GGG	Ts	AGG	G->A	C2 Domain B		Absent		F1-131-1-1	0	Male	Proband	FRANCE	proximodistal	1
c.896G>A	Heterozygous	p.Gly299Glu	299	9	GGG	Ts	GAG	G->A	C2 Domain B				F1-31-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.895G>A	Heterozygous	p.Gly299Arg	299	9	GGG	Ts	AGG	G->A	C2 Domain B				G16-2-1-1	0	Male	Proband	GERMANY	LGMD2B	30
c.895G>T	Homozygous	p.Gly299Trp	299	9	GGG	Tv	TGG	G->T	C2 Domain B		No data		G16-7-1-2	1	Female	Proband	U.K.	Miyoshi myopathy	45
c.895G>C	Heterozygous	p.Gly299Arg	299	9	GGG	Tv	CGG	G->C	C2 Domain B		Reduced		IT4-29-1-1	1	Male	Proband	ITALIA	LGMD2B	44
c.895G>A	Heterozygous	p.Gly299Arg	299	9	GGG	Ts	AGG	G->A	C2 Domain B		Absent		K10-6-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.895G>T	Homozygous	p.Gly299Trp	299	9	GGG	Tv	TGG	G->T	C2 Domain B				UK2-31-1-0	1	Unknown	Proband		LGMD2B	54
c.895G>A	Heterozygous	p.Gly299Arg	299	9	GGG	Ts	AGG	G->A	C2 Domain B				G16-2-2-2	0	Female	Relative	GERMANY	LGMD2B	30
c.895G>T	Homozygous	p.Gly299Trp	299	9	GGG	Tv	TGG	G->T	C2 Domain B		Absent		G16-7-2-1	1	Male	Relative	U.K.	Miyoshi myopathy	45
c.IVS9+4A>G (c.906+4A>G)	Homozygous		302	9	CGG		spl+4	A>G	C2 Domain B		Reduced	r.906_968del	IT9-39-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.IVS9-3C>A (c.907-3C>A)	Heterozygous		303	10	ATG		spl-3	C>A	Ferlin family domain FerI		Absent	r.spl?	US32-5-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.927C>G	Heterozygous	p.Tyr309X	309	10	TAC	Tv	TAG	C->G	Ferlin family domain FerI		Absent		T24-3-1-2	1	Female	Proband	THAILAND	Miyoshi myopathy	53
c.927C>G	Heterozygous	p.Tyr309X	309	10	TAC	Tv	TAG	C->G	Ferlin family domain FerI		Absent		T24-3-2-2	1	Female	Relative	THAILAND	Miyoshi myopathy	53
c.IVS10+1G>A (c.937+1G>A)	Heterozygous		313	10_11	CGG	Ts	spl+1	G->A	Ferlin family domain FerI			r.spl?	C12-1-1-1	1	Male	Proband	CHINA	LGMD2B	26
c.IVS10+1G>A (c.937+1G>A)	Heterozygous		313	10_11	CGG	Ts	spl+1	G->A			Absent	r.spl?	F1-204-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.IVS10+1G>A (c.937+1G>A)	Heterozygous		313	10_11	CGG	Ts	spl+1	G->A	Ferlin family domain FerI		Absent	r.spl?	F1-319-1-1	1	Male	Proband	CHINA (Han population)	exercise intolerance	72
c.IVS10+1G>A (c.937+1G>A)	Heterozygous		313	10_11	CGG	Ts	spl+1	G->A			Absent	r.spl?	IT4-8-1-1	1	Male	Proband	ITALIA	Miyoshi myopathy	17
c.IVS10+1G>A (c.937+1G>A)	Homozygous		313	10_11	CGG		spl+1	G>A	Ferlin family domain FerI		No data	r.spl?	JP28-23-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.IVS10+1G>A (c.937+1G>A)	Homozygous		313	10_11	CGG		spl+1	G>A	Ferlin family domain FerI		No data	r.spl?	JP28-29-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.IVS10+1G>A (c.937+1G>A)	Heterozygous		313	10_11	CGG		spl+1	G>A	Ferlin family domain FerI		Absent	r.spl?	K10-12-1-2	0	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.IVS10+1G>A (c.937+1G>A)	Heterozygous		313	10_11	CGG		spl+1	G>A	Ferlin family domain FerI		Absent	r.spl?	K10-14-1-2	0	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.IVS10-1G>A (c.938-1G>A)	Heterozygous		313	10_11	CGG	Ts	spl-1	G->A	Ferlin family domain FerI		Absent	r.spl?	K10-20-1-1	0	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.IVS10+1G>A (c.937+1G>A)	Heterozygous		313	10_11	CGG		spl+1	G>A	Ferlin family domain FerI		Absent	r.spl?	K10-4-1-2	0	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	LGMD2B	68
c.IVS10+1G>A (c.937+1G>A)	Heterozygous		313	10_11	CGG		spl+1	G>A	Ferlin family domain FerI		Absent	r.spl?	US32-15-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.IVS10+1G>A (c.937+1G>A)	Heterozygous		313	10_11	CGG		spl+1	G>A	Ferlin family domain FerI		No data	r.spl?	US32-19-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.IVS10+1G>A (c.937+1G>A)	Heterozygous		313	10_11	CGG	Ts	spl+1	G->A				r.spl?	USJP3-25-1-2	1	Female	Proband	JAPAN	Miyoshi myopathy	12
c.IVS10+1G>A (c.937+1G>A)	Heterozygous		313	10_11	CGG	Ts	spl+1	G->A				r.spl?	USJP3-34-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	13
c.IVS10+1G>A (c.937+1G>A)	Heterozygous		313	10_11	CGG	Ts	spl+1	G->A				r.spl?	USJP3-41-1-2	1	Female	Proband	JAPAN	Miyoshi myopathy	13
c.IVS10+1G>A (c.937+1G>A)	Heterozygous		313	10_11	CGG	Ts	spl+1	G->A				r.spl?	C12-1-2-2	1	Female	Relative	CHINA	Miyoshi myopathy	26
c.IVS10+1G>A (c.937+1G>A)	Heterozygous		313	10_11	CGG	Ts	spl+1	G->A				r.spl?	C12-1-3-2	1	Female	Relative	CHINA	Miyoshi myopathy	26
c.IVS10+1G>A (c.937+1G>A)	Homozygous		313	10_11	CGG		spl+1	G>A	Ferlin family domain FerI		No data	r.spl?	JP28-23-2-2	1	Female	Relative	JAPAN	LGMD2B	69
c.965T>C	Heterozygous	p.Leu322Pro	322	11	CTG	Ts	CCG	T->C	Ferlin family domain FerI		Reduced		F1-302-1-2	1	Female	Proband	CHINA (Han population)	LGMD2B	72
c.965T>C	Heterozygous	p.Leu322Pro	322	11	CTG	Ts	CCG	T->C	Ferlin family domain FerI		Absent		F1-305-1-2	0	Female	Proband	CHINA (Han population)	LGMD2B	72
c.965T>C	Heterozygous	p.Leu322Pro	322	11	CTG	Ts	CCG	T->C	Ferlin family domain FerI		Absent		F1-321-1-1	0	Male	Proband	CHINA (Han population)	isolated hyperCKaemia	72
c.1016C>G	Heterozygous	p.Thr339Arg	339	11	ACA	Tv	AGA	C->G	Ferlin family domain FerI				UK2-24-1-0	1	Unknown	Proband		LGMD2B	54
c.1020C>A	Heterozygous	p.Ser340Arg	340	11	AGC	Tv	AGA	C->A	Ferlin family domain FerI				F1-11-1-1	1	Male	Proband	MAGHREB	Miyoshi myopathy	1
c.1020C>A	Heterozygous	p.Ser340Arg	340	11	AGC	Tv	AGA	C->A	Ferlin family domain FerI		Absent		F1-153-1-1	1	Male	Proband	FRANCE	proximodistal	1
c.1020C>G	Homozygous	p.Ser340Arg	340	11	AGC	Tv	AGG	C->G	Ferlin family domain FerI		Reduced		F25-1-1-2	1	Female	Proband	FRANCE	LGMD2B and polymyositis	56
c.1020C>A	Heterozygous	p.Ser340Arg	340	11	AGC	Tv	AGA	C->A	Ferlin family domain FerI		Absent	r.1020C>A	IT9-32-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.1020C>A	Heterozygous	p.Ser340Arg	340	11	AGC	Tv	AGA	C->A	Ferlin family domain FerI				UK2-53-1-0	1	Unknown	Proband		LGMD2B	54
c.1045dup	Heterozygous	p.Glu349GlyfsX11	349	11	GAA		ins1a	Stop at 359	Ferlin family domain FerI		Absent		C29-4-1-1	1	Male	Proband	CHINA	Miyoshi myopathy	70
c.1045dup	Heterozygous	p.Glu349GlyfsX11	349	11	GAA		ins1a	Stop at 359	Ferlin family domain FerI		Reduced		C29-5-1-1	1	Male	Proband	CHINA	LGMD2B	70
c.1045dup	Heterozygous	p.Glu349GlyfsX11	349	11	GAA		ins1a	Stop at 359	Ferlin family domain FerI		Reduced		C29-6-1-1	1	Male	Proband	CHINA	LGMD2B	70
c.IVS11+5G>A (c.1053+5G>A)	Heterozygous		351	11	CCT	Ts	spl+5	G->A			Absent	r.spl?	UK2-23-1-2	1	Female	Proband	U.K.	trunc and lower limb girdle stiffness	48
c.IVS11+5G>A (c.1053+5G>A)	Heterozygous		351	11	CCT	Ts	spl+5	G->A			No data	r.spl?	UK2-37-1-0	1	Unknown	Proband		stiffness after exercise	54
c.IVS11+1G>A (c.1053+1G>A)	Heterozygous		351	11	CCT		spl+1	G>A	Ferlin family domain FerI		No data	r.spl?	US32-30-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.1064_1065delAA	Heterozygous	p.Lys355ArgfsX4	355	12	AAA	Fr.	del2b	Stop at 358	Ferlin family domain FerI		Absent		F1-108-1-1	0	Male	Proband	FRANCE	LGMD2B	1
c.1064_1065delAA	Heterozygous	p.Lys355ArgfsX4	355	12	AAA	Fr.	del2b	Stop at 358	Ferlin family domain FerI		Reduced		F1-143-1-1	1	Male	Proband	FRANCE	LGMD2B	1
c.1064_1065delAA	Heterozygous	p.Lys355ArgfsX4	355	12	AAA	Fr.	del2b	Stop at 358	Ferlin family domain FerI		Absent		IT4-37-1-2	1	Female	Proband	ITALIA	LGMD2B	44
c.1064_1065delAA	Heterozygous	p.Lys355ArgfsX4	355	12	AAA	Fr.	del2b	Stop at 358	Ferlin family domain FerI				F1-108-2-2	1	Female	Relative	FRANCE	LGMD2B	1
c.1120G>C	Heterozygous	p.Val374Leu	374	12	GTA	Tv	CTA	G->C	Ferlin family domain FerI		Absent		AUS19-1-1-0	1	Unknown	Proband	AUSTRALIA	LGMD2B	40
c.1120G>C	Heterozygous	p.Val374Leu	374	12	GTA	Tv	CTA	G->C	Ferlin family domain FerI		Reduced		F1-332-1-1	1	Male	Proband	NETHERLAND	Miyoshi myopathy	74
c.1120G>C	Heterozygous	p.Val374Leu	374	12	GTA	Tv	CTA	G->C	Ferlin family domain FerI				F1-65-1-2	0	Female	Proband	FRANCE	Miyoshi myopathy	1
c.1120G>C	Heterozygous	p.Val374Leu	374	12	GTA	Tv	CTA	G->C	Ferlin family domain FerI		Reduced		IT4-18-1-2	1	Female	Proband	ITALIA	isolated hyperCKaemia	17
c.1120G>C	Heterozygous	p.Val374Leu	374	12	GTA	Tv	CTA	G->C	Ferlin family domain FerI		Reduced		IT4-5-1-1	1	Male	Proband	ITALIA	Miyoshi myopathy	17
c.1120G>C	Heterozygous	p.Val374Leu	374	12	GTA	Tv	CTA	G->C	Ferlin family domain FerI		Reduced		IT9-29-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.1120G>C	Homozygous	p.Val374Leu	374	12	GTA	Tv	CTA	G->C	Ferlin family domain FerI		Absent		S13-14-1-0	1	Unknown	Proband	SPAIN	LGMD2B	35
c.1120G>C	Heterozygous	p.Val374Leu	374	12	GTA	Tv	CTA	G->C	Ferlin family domain FerI				UK2-47-1-0	1	Unknown	Proband		Miyoshi myopathy	54
c.1120G>C	Heterozygous	p.Val374Leu	374	12	GTA	Tv	CTA	G->C	Ferlin family domain FerI		Absent		US26-16-1-2	1	Female	Proband		LGMD2B	58
c.1120G>C	Heterozygous	p.Val374Leu	374	12	GTA	Tv	CTA	G->C	Ferlin family domain FerI		No data		US26-28-1-2	1	Female	Proband	U.S.A.	LGMD2B	66
c.1120G>C	Heterozygous	p.Val374Leu	374	12	GTA	Tv	CTA	G->C	Ferlin family domain FerI		Reduced		US26-7-1-1	0	Male	Proband		LGMD2B	58
c.1120G>C	Homozygous	p.Val374Leu	374	12	GTA	Tv	CTA	G->C	Ferlin family domain FerI		Absent		S13-14-2-0	1	Unknown	Relative	SPAIN	LGMD2B	35
c.1120G>C	Homozygous	p.Val374Leu	374	12	GTA	Tv	CTA	G->C	Ferlin family domain FerI		Absent		S13-14-3-0	1	Unknown	Relative	SPAIN	LGMD2B	35
c.1120G>C	Homozygous	p.Val374Leu	374	12	GTA	Tv	CTA	G->C	Ferlin family domain FerI		Absent		S13-14-4-0	1	Unknown	Relative	SPAIN	LGMD2B	35
c.1129C>T	Heterozygous	p.Arg377X	377	12	CGA	Ts	TGA	C->T			Absent		K10-11-1-2	1	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.1157_1168del	Heterozygous	p.Phe386_Asp390delinsTyr	386	12	TTC	InF	del12b	In frame del	C2 Domain C				F1-14-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.1165G>C	Homozygous	p.Glu389Gln	389	12	GAG	Tv	CAG	G->C	C2 Domain C				K10-1-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	24
c.1168G>A	Heterozygous	p.Asp390Asn	390	12	GAC	Ts	AAC	G->A	C2 Domain C		Absent		F1-263-1-2	1	Female	Proband		LGMD2B or Miyoshi myopathy	81
c.1177C>T	Heterozygous	p.Gln393X	393	12	CAG	Ts	TAG	C->T	C2 Domain C				F1-201-1-2	1	Female	Proband	FRANCE	isolated hyperCKaemia	1
c.1177C>T	Heterozygous	p.Gln393X	393	12	CAG	Ts	TAG	C->T	C2 Domain C		Absent		F1-83-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.1178_1180dup	Heterozygous	p.Gln393delinsGlnArg	393	12	CAG	Fr.	ins3b	In frame ins	C2 Domain C		Absent		US21-17-1-2	1	Female	Proband		LGMD2B or Miyoshi myopathy	50
c.IVS12-2A>G (c.1181-2A>G)	Heterozygous		394	12_13	ATG	Ts	spl-2	A->G	C2 Domain C		Absent		C35-8-1-1	1	Male	Proband	CHINA	LGMD2B	80
c.IVS12+7delAGTGCGTG (c.1180+7delAGTGCGTG)	Heterozygous		394	12_13	ATG	Tv	spl+7	delAGTGCGTG	C2 Domain C		Absent	r.1054_1284del	F1-331-1-1	0	Male	Proband	URUGUAY	Miyoshi myopathy	62
c.IVS12+2T>C (c.1180+2T>C)	Heterozygous		394	12_13	ATG	Ts	spl+2	T->C			Reduced	r.spl?	IT4-28-1-1	1	Male	Proband	ITALIA	LGMD2B	44
c.IVS12-2A>C (c.1181-2A>C)	Homozygous		394	12_13	ATG	Tv	spl-2	A->C			Reduced	r.1181_1212del	IT4-6-1-1	1	Male	Proband	ITALIA	Miyoshi myopathy	17
c.IVS12+5G>A (c.1180+5G>A)	Heterozygous		394	12_13	ATG	Ts	spl+5	G->A	C2 Domain C		Absent		PL33-1-1-2	0	Female	Proband	POLAND	LGMD2B	76
c.IVS12+7delAGTGCGTG (c.1180+7delAGTGCGTG)	Heterozygous		394	12_13	ATG	Tv	spl+7	delAGTGCGTG	C2 Domain C		No data	r.1054_1284del	PO27-10-1-1	0	Male	Proband	PORTUGAL	proximodistal	62
c.IVS12+7delAGTGCGTG (c.1180+7delAGTGCGTG)	Homozygous		394	12_13	ATG	Tv	spl+7	delAGTGCGTG	C2 Domain C		No data	r.1054_1284del	PO27-11-1-1	1	Female	Proband	PORTUGAL	proximodistal	62
c.IVS12+7delAGTGCGTG (c.1180+7delAGTGCGTG)	Heterozygous		394	12_13	ATG	Tv	spl+7	delAGTGCGTG	C2 Domain C		No data	r.1054_1284del	PO27-8-1-1	0	Male	Proband	PORTUGAL	LGMD2B	62
c.IVS12+7delAGTGCGTG (c.1180+7delAGTGCGTG)	Heterozygous		394	12_13	ATG	Tv	spl+7	delAGTGCGTG	C2 Domain C		No data	r.1054_1284del	PO27-9-1-1	0	Male	Proband	PORTUGAL	proximodistal	62
c.1167_1180dup	Homozygous	p.Met394ArgfsX10	394	12_13	ATG	Fr.	ins14b	Stop at 403	C2 Domain C				UK2-23-1-0	1	Unknown	Proband		LGMD2B	54
c.1167_1180dup	Homozygous	p.Met394ArgfsX10	394	12_13	ATG	Fr.	ins14b	Stop at 403	C2 Domain C				UK2-39-1-0	1	Unknown	Proband		Miyoshi myopathy	54
c.1182_17dup	Homozygous	p.Asp395ThrfsX9	394	12_13	ATG	Fr.	ins14c	Stop at 403	C2 Domain C		Reduced	r.spl?	US32-1-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.1183G>T	Heterozygous	p.Asp395Tyr	395	13	GAC	Tv	TAC	G->T	C2 Domain C		Reduced	r.1183G>U	IT9-57-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.1254delC	Homozygous	p.Phe419LeufsX41	418	13	CCC	Fr.	del1c	Stop at 459	C2 Domain C		Absent		IT4-23-1-1	1	Male	Proband	ITALIA	LGMD2B	44
c.1254dup	Heterozygous	p.Phe419LeufsX55	419	13	TTT	Fr.	ins1a	Stop at 473	C2 Domain C		Absent	r.1254_1255dupC	IT9-61-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.1277G>T	Heterozygous	p.Gly426Val	426	13	GGG	Tv	GTG	G->T	C2 Domain C				C12-1-1-1	0	Male	Proband	CHINA	LGMD2B	26
c.1276G>A	Heterozygous	p.Gly426Arg	426	13	GGG	Ts	AGG	G->A	C2 Domain C				F1-184-1-2	1	Female	Proband	CHILE	Miyoshi myopathy	1
c.1277G>T	Heterozygous	p.Gly426Val	426	13	GGG	Tv	GTG	G->T	C2 Domain C				C12-1-2-2	0	Female	Relative	CHINA	Miyoshi myopathy	26
c.1277G>T	Heterozygous	p.Gly426Val	426	13	GGG	Tv	GTG	G->T	C2 Domain C				C12-1-3-2	0	Female	Relative	CHINA	Miyoshi myopathy	26
c.IVS13+2T>C (c.1284+2T>C)	Heterozygous		428	13	ATG	Ts	spl+2	T->C	C2 Domain C		Absent		C35-5-1-1	1	Male	Proband	CHINA	Miyoshi myopathy	80
c.IVS13+2T>C (c.1284+2T>C)	Heterozygous		428	13	ATG	Tv	spl+2	T>C	C2 Domain C		Absent		C35-6-1-2	1	Female	Proband	CHINA	LGMD2B	80
c.IVS13+2T>C (c.1284+2T>C)	Heterozygous		428	13	ATG	Ts	spl+2	T->C	C2 Domain C		Absent	r.spl?	F1-320-1-2	1	Female	Proband	CHINA (Han population)	exercise intolerance	72
c.IVS13+2T>C (c.1284+2T>C)	Homozygous		428	13	ATG	Ts	spl+2	T->C				r.spl?	JP5-14-1-0	1	Unknown	Proband	JAPAN	Miyoshi myopathy	19
c.IVS13+2T>C (c.1284+2T>C)	Heterozygous		428	13	ATG		spl+2	T>C	C2 Domain C		Absent	r.spl?	K10-23-1-2	1	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	LGMD2B	68
c.IVS13+2T>C (c.1284+2T>C)	Heterozygous		428	13	ATG		spl+2	T>C	C2 Domain C		Absent	r.spl?	K10-7-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.IVS13+2T>C (c.1284+2T>C)	Heterozygous		428	13	ATG		spl+2	T>C	C2 Domain C		Absent	r.spl?	K10-9-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.IVS13+2T>C (c.1284+2T>C)	Heterozygous		428	13	ATG		spl+2	T>C	C2 Domain C		No data	r.spl?	US32-21-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.IVS13-2A>G (c.1285-2A>G)	Homozygous		429	14	CTG	Ts	spl-2	A->G			Absent	r.spl?	G16-8-1-1	1	Male	Proband	SAUDI ARABIA	proximodistal	45
c.IVS13-2A>G (c.1285-2A>G)	Homozygous		429	14	CTG	Ts	spl-2	A->G				r.spl?	UK2-25-1-0	1	Unknown	Proband		LGMD2B	54
c.1321C>T	Homozygous	p.Gln441X	441	14	CAG	Ts	TAG	C->T	C2 Domain C		No data		JP28-30-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.1321C>T	Heterozygous	p.Gln441X	441	14	CAG	Ts	TAG	C->T	C2 Domain C		No data		JP28-40-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	61
c.1321C>T	Homozygous	p.Gln441X	441	14	CAG	Ts	TAG	C->T	C2 Domain C		No data		JP28-30-2-1	1	Male	Relative	JAPAN	LGMD2B	69
c.1343T>C	Heterozygous	p.Leu448Pro	448	14	CTG	Ts	CCG	T->C	C2 Domain C		Reduced		US30-1-1-2	0	Female	Proband	CANADA (Caucasian)	Miyoshi myopathy	71
c.IVS14+1G>A (c.1353+1G>A)	Homozygous		451	14	ATG	Ts	spl+1	G->A			Absent	"[r.1353+1_1354-1ins;r.1353+1g>a]"	S13-22-1-0	1	Unknown	Proband	SPAIN	LGMD2B	35
c.IVS14-1G>A (c.1354-1G>A)	Heterozygous		452	15	TTT	Ts	spl-1	G->A				r.spl?	UK2-44-1-0	0	Unknown	Proband		LGMD2B	54
c.IVS14-1G>A (c.1354-1G>A)	Heterozygous		452	15	TTT	Ts	spl-1	G->A				r.spl?	UK2-44-2-0	0	Unknown	Relative		LGMD2B	54
c.1357C>T	Heterozygous	p.Pro453Ser	453	15	CCC	Ts	TCC	C->T	C2 Domain C		Absent		S13-25-1-0	1	Unknown	Proband	SPAIN	DMAT	35
c.1368C>G	Heterozygous	p.Cys456Trp	456	15	TGC	Tv	TGG	C->G	C2 Domain C		Absent		F1-37-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.1368C>A	Homozygous	p.Cys456X	456	15	TGC	Tv	TGA	C->A	C2 Domain C		No data		US32-18-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.1369G>A	Heterozygous	p.Glu457Lys	457	15	GAA	Ts	AAA	G->A	C2 Domain C		Reduced	r.1369G>A	IT9-56-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.1375dup	Heterozygous	p.Met459AsnfsX15	459	15	ATG	Fr.	ins1b	Stop at 473	C2 Domain C		Absent		F1-306-1-1	1	Male	Proband	CHINA (Han population)	LGMD2B	72
c.1375dup	Heterozygous	p.Met459AsnfsX15	459	15	ATG	Fr.	ins1b	Stop at 473	C2 Domain C		Absent		F1-317-1-1	1	Male	Proband	CHINA (Han population)	Miyoshi myopathy	72
c.1379_1381delGGA	Heterozygous	p.Arg460_Arg460del	460	15	AGG	InF	del3b	In frame del	C2 Domain C		No data		PO27-9-1-1	1	Male	Proband	PORTUGAL	proximodistal	62
c.1392dup	Heterozygous	p.Asp465ArgfsX9	464	15	ATA	Fr.	ins1c	Stop at 473	C2 Domain C		Absent		US26-12-1-2	1	Female	Proband		Miyoshi myopathy	58
c.1392dup	Heterozygous	p.Asp465ArgfsX9	464	15	ATA		ins1c	Stop at 473	C2 Domain C		No data		US26-27-1-2	1	Female	Proband	U.S.A.	Miyoshi myopathy	66
c.1392dup	Heterozygous	p.Asp465ArgfsX9	464	15	ATA		ins1c	Stop at 473	C2 Domain C		No data		US32-16-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.1392dup	Heterozygous	p.Asp465ArgfsX9	464	15	ATA		ins1c	Stop at 473	C2 Domain C		Absent		US32-4-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.1392dup	Heterozygous	p.Asp465ArgfsX9	464	15	ATA		ins1c	Stop at 473	C2 Domain C		Absent		US32-8-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.1392dup	Heterozygous	p.Asp465ArgfsX9	464	15	ATA	Fr.	ins1c	Stop at 473	C2 Domain C		Absent		US26-12-2-1	1	Male	Relative		LGMD2B	58
c.1392dup	Homozygous	p.Asp465ArgfsX9	465	15	GAC	Fr.	ins1a	Stop at 473	C2 Domain C	Calcium binding 465	Absent		F1-17-1-1	1	Male	Proband	TUNISIA	proximodistal	1
c.IVS15-2A>G (c.1398-2A>G)	Heterozygous		466	15_16	TGG		spl-2	A>G	C2 Domain C		Reduced	r.spl?	US32-7-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.1402C>T	Heterozygous	p.Arg468Cys	468	16	CGC	Ts	TGC	C->T	C2 Domain C		Absent		US21-14-1-2	1	Female	Proband		LGMD2B or Miyoshi myopathy	50
c.1413delC	Heterozygous	p.His471GlnfsX10	471	16	CAC	Fr.	del1c	Stop at 480	C2 Domain C		No data		IT4-12-1-1	1	Male	Proband	ITALIA	Miyoshi myopathy	17
c.1413delC	Heterozygous	p.His471GlnfsX10	471	16	CAC	Fr.	del1c	Stop at 480	C2 Domain C		Absent		IT9-16-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.1413delC	Heterozygous	p.His471GlnfsX10	471	16	CAC	Fr.	del1c	Stop at 480	C2 Domain C		Absent		IT4-12-2-1	1	Male	Relative	ITALIA	Miyoshi myopathy	17
c.1413delC	Heterozygous	p.His471GlnfsX10	471	16	CAC	Fr.	del1c	Stop at 480	C2 Domain C		Absent		IT9-16-2-0	1	Unknown	Relative		LGMD2B or Miyoshi myopathy	64
c.1448C>A	Heterozygous	p.Ser483X	483	16	TCG	Tv	TAG	C->A					G16-3-1-0	1	Unknown	Proband	GERMANY	proximodistal	30
c.1464delT	Heterozygous	p.Gly489GlufsX4	488	16	CCT	Fr.	del1c	Stop at 492			Absent		K10-13-1-2	0	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.IVS16+1delG (c.1480+1delG)	Homozygous		494	16_17	GAG	Tv	spl+1	delG			Absent	r.1398_1480del (exon 16 skiping)	CAN15-6-1-0	1	Unknown	Proband	ITALIA	Miyoshi myopathy	34
c.1481_1522del	Heterozygous	p.Glu494_Leu508delinsVal	494	16_17	GAG	InF	del42b	In frame del			Reduced	r.1481_1522del	IT9-54-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.IVS16-1G>A (c.1481-1G>A)	Heterozygous		494	16_17	GAG	Ts	spl-1	G->A			Absent	r.spl?	US26-2-1-1	1	Male	Proband		Miyoshi myopathy	58
c.IVS16-1G>A (c.1481-1G>A)	Heterozygous		494	16_17	GAG		spl-1	G>A			No data	r.spl?	US26-21-1-1	1	Male	Proband	U.S.A.	Miyoshi myopathy	66
c.IVS16-1G>A (c.1481-1G>A)	Heterozygous		494	16_17	GAG		spl-1	G>A			No data	r.spl?	US32-10-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.1555G>A	Homozygous	p.Gly519Arg	519	18	GGG	Ts	AGG	G->A			Absent	r.1523_1556del	S13-11-1-0	1	Unknown	Proband	SPAIN	Miyoshi myopathy	35
c.1555G>A	Homozygous	p.Gly519Arg	519	18	GGG	Ts	AGG	G->A			Absent	r.1523_1556del	S13-11-2-0	1	Unknown	Relative	SPAIN	Miyoshi myopathy	35
c.1555G>A	Heterozygous	p.Gly519Arg	519	18	GGG	Ts	AGG	G->A			Reduced	r.1523_1556del	S13-11-3-1	1	Male	Relative	SPAIN	Miyoshi myopathy	37
c.1566C>G	Heterozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G			No data		JP28-14-1-1	0	Male	Proband	JAPAN	LGMD2B	69
c.1566C>G	Heterozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G			No data		JP28-15-1-2	0	Female	Proband	JAPAN	LGMD2B	69
c.1566C>G	Heterozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G			No data		JP28-16-1-2	0	Female	Proband	JAPAN	LGMD2B	69
c.1566C>G	Homozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G			No data		JP28-24-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.1566C>G	Heterozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G			No data		JP28-31-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.1566C>G	Homozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G			No data		JP28-32-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.1566C>G	Heterozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G			No data		JP28-38-1-1	0	Male	Proband	JAPAN	Miyoshi myopathy	61
c.1566C>G	Heterozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G					JP5-10-1-0	1	Unknown	Proband	JAPAN	Miyoshi myopathy	19
c.1566C>G	Heterozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G					JP5-11-1-0	1	Unknown	Proband	JAPAN	Miyoshi myopathy	19
c.1566C>G	Heterozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G					JP5-7-1-0	1	Unknown	Proband	JAPAN	LGMD2B	19
c.1566C>G	Heterozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G					JP5-9-1-0	1	Unknown	Proband	JAPAN	Miyoshi myopathy	19
c.1566C>G	Heterozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G					USJP3-12-1-0	1	Unknown	Proband	JAPAN	Miyoshi myopathy	10
c.1566C>G	Heterozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G					USJP3-25-1-2	0	Female	Proband	JAPAN	Miyoshi myopathy	12
c.1566C>G	Heterozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G					USJP3-30-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	13
c.1566C>G	Homozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G					USJP3-37-1-2	1	Female	Proband	JAPAN	Miyoshi myopathy	13
c.1566C>G	Heterozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G					USJP3-42-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	13
c.1566C>G	Homozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G			No data		JP28-24-2-2	1	Female	Relative	JAPAN	LGMD2B	69
c.1566C>G	Homozygous	p.Tyr522X	522	18	TAC	Tv	TAG	C->G			No data		JP28-32-2-1	1	Male	Relative	JAPAN	LGMD2B	69
c.1617C>G	Heterozygous	p.Tyr539X	539	18	TAC	Tv	TAG	C->G			Absent		F1-57-1-1	0	Male	Proband	FRANCE	LGMD2B	1
c.1620delA	Heterozygous	p.Glu541SerfsX86	540	18	ACA	Fr.	del1c	Stop at 626			Absent		US32-3-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.IVS18+1G>C (c.1638+1G>C)	Homozygous		546	18	AAG		spl+1	G>C			Absent	r.spl?	C29-3-1-1	1	Male	Proband	CHINA	LGMD2B	70
c.IVS18+2T>A (c.1638+2T>A)	Heterozygous		546	18	AAG		spl+2	T>A			Absent	r.spl?	US32-14-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.IVS18-6T>A (c.1639-6T>A)	Homozygous		547	19	GGG		spl-6	T>A			Absent	r.1638_1639insGCAG	IT9-45-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.IVS18-6T>A (c.1639-6T>A)	Heterozygous		547	19	GGG		spl-6	T>A			No data	r.spl?	US32-34-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.1642dup	Heterozygous	p.Glu548GlyfsX22	548	19	GAA	Fr.	ins1b	Stop at 569			Absent		F1-144-1-3	1	Male	Proband	NETHERLAND	Miyoshi myopathy	74
c.1642delG	Homozygous	p.Glu548LysfsX79	548	19	GAA	Fr.	del1a	Stop at 626					UK2-46-1-0	1	Unknown	Proband		LGMD2B	54
c.1642delG	Heterozygous	p.Glu548LysfsX79	548	19	GAA	Fr.	del1a	Stop at 626			Absent		US32-14-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.1650_1663del	Heterozygous	p.Tyr552SerfsX13	550	19	GTG	Fr.	del14c	Stop at 564					F1-92-1-2	0	Female	Proband	FRANCE	LGMD2B	1
c.1656T>G	Heterozygous	p.Tyr552X	552	19	TAT	Tv	TAG	T->G			Absent		C35-9-1-2	1	Female	Proband	CHINA	Miyoshi myopathy	80
c.1663C>T	Heterozygous	p.Arg555Trp	555	19	CGG	Ts	TGG	C->T			Absent		F1-113-1-1	0	Male	Proband	FRANCE	isolated hyperCKaemia	1
c.1663C>T	Heterozygous	p.Arg555Trp	555	19	CGG	Ts	TGG	C->T					F1-114-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.1663C>T	Heterozygous	p.Arg555Trp	555	19	CGG	Ts	TGG	C->T					F1-14-1-1	0	Male	Proband	FRANCE	Miyoshi myopathy	1
c.1663C>T	Heterozygous	p.Arg555Trp	555	19	CGG	Ts	TGG	C->T			Absent		F1-316-1-2	1	Female	Proband	CHINA (Han population)	Miyoshi myopathy	72
c.1663C>T	Heterozygous	p.Arg555Trp	555	19	CGG	Ts	TGG	C->T			Absent		F1-340-1-1	1	Male	Proband		LGMD2B	81
c.1663C>T	Heterozygous	p.Arg555Trp	555	19	CGG	Ts	TGG	C->T			Absent		F1-49-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.1663C>T	Heterozygous	p.Arg555Trp	555	19	CGG	Ts	TGG	C->T			Reduced		F1-58-1-1	1	Male	Proband	FRANCE	LGMD2B	1
c.1663C>T	Homozygous	p.Arg555Trp	555	19	CGG	Ts	TGG	C->T			Absent		F1-6-1-1	1	Male	Proband	MOROCCO	Miyoshi myopathy	1
c.1663C>T	Heterozygous	p.Arg555Trp	555	19	CGG	Ts	TGG	C->T			Reduced		IT9-38-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.1663C>T	Heterozygous	p.Arg555Trp	555	19	CGG	Ts	TGG	C->T			Absent		T24-4-1-1	1	Male	Proband		DMAT	53
c.1663C>T	Heterozygous	p.Arg555Trp	555	19	CGG	Ts	TGG	C->T			Absent		US32-6-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.1667T>C	Heterozygous	p.Leu556Pro	556	19	CTT	Ts	CCT	T->C			Absent		F1-325-1-1	0	Male	Proband	CHINA (Han population)	LGMD2B	72
c.1667T>C	Homozygous	p.Leu556Pro	556	19	CTT	Ts	CCT	T->C			Absent		F1-329-1-1	1	Male	Proband	CHINA (Han population)	Miyoshi myopathy	72
c.1717G>T	Homozygous	p.Glu573X	573	19	GAG	Tv	TAG	G->T					JP5-1-1-2	1	Female	Proband	JAPAN	Miyoshi myopathy	18
c.1717G>T	Homozygous	p.Glu573X	573	19	GAG	Tv	TAG	G->T					JP5-15-1-0	1	Unknown	Proband	JAPAN	Miyoshi myopathy	19
c.1717G>T	Homozygous	p.Glu573X	573	19	GAG	Tv	TAG	G->T					USJP3-22-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	12
c.1717G>T	Homozygous	p.Glu573X	573	19	GAG	Tv	TAG	G->T					USJP3-23-2-1	1	Male	Proband	JAPAN	Miyoshi myopathy	12
c.1717G>T	Homozygous	p.Glu573X	573	19	GAG	Tv	TAG	G->T					JP5-1-2-2	1	Female	Relative	JAPAN	scapuloperoneal	18
c.1717G>T	Homozygous	p.Glu573X	573	19	GAG	Tv	TAG	G->T					JP5-1-3-2	1	Female	Relative	JAPAN	Miyoshi myopathy	18
c.1717G>T	Homozygous	p.Glu573X	573	19	GAG	Tv	TAG	G->T					JP5-1-4-2	1	Female	Relative	JAPAN	scapuloperoneal	18
c.1717G>T	Homozygous	p.Glu573X	573	19	GAG	Tv	TAG	G->T					JP5-1-5-2	1	Female	Relative	JAPAN	steppage gait	18
c.1717G>T	Homozygous	p.Glu573X	573	19	GAG	Tv	TAG	G->T					JP5-1-6-1	1	Male	Relative	JAPAN	Miyoshi myopathy	18
c.1717G>T	Homozygous	p.Glu573X	573	19	GAG	Tv	TAG	G->T					JP5-1-7-1	1	Male	Relative	JAPAN	Miyoshi myopathy	18
c.1717G>T	Homozygous	p.Glu573X	573	19	GAG	Tv	TAG	G->T					JP5-1-8-2	1	Female	Relative	JAPAN	steppage gait	18
c.1750insT	Heterozygous	p.Glu584X	584	19	GAG	Fr.	ins1a	Stop at 584			Absent		US21-3-1-2	0	Female	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	46
c.1758C>G	Heterozygous	p.Tyr586X	586	20	TAC	Tv	TAG	C->G			Absent		F1-204-1-2	0	Female	Proband	FRANCE	Miyoshi myopathy	1
c.1758C>G	Heterozygous	p.Tyr586X	586	20	TAC	Tv	TAG	C->G			Absent		F1-427-1-1	0	Male	Proband		isolated hyperCKaemia	0
c.1758C>G	Heterozygous	p.Tyr586X	586	20	TAC	Tv	TAG	C->G			Absent		F1-68-1-2	0	Female	Proband	FRANCE	isolated hyperCKaemia	1
c.1758C>G	Heterozygous	p.Tyr586X	586	20	TAC	Tv	TAG	C->G					F1-96-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.1758C>A	Heterozygous	p.Tyr586X	586	20	TAC	Tv	TAA	C->A					USJP3-27-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	13
c.1759delC	Heterozygous	p.Arg588GlyfsX39	587	20	CTT	Fr.	del1a	Stop at 626			Absent		F1-307-1-2	1	Female	Proband	CHINA (Han population)	LGMD2B	72
c.1795_1799dup	Homozygous	p.Ala601ThrfsX28	599	20	TAC	Fr.	ins5a	Stop at 628			Absent		F1-46-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.1795_1799dup	Homozygous	p.Ala601ThrfsX28	599	20	TAC	Fr.	ins5a	Stop at 628			Absent		F1-46-2-1	1	Male	Relative	FRANCE	Miyoshi myopathy	1
c.1813C>T	Heterozygous	p.Gln605X	605	20	CAG	Ts	TAG	C->T			Reduced	r.0	G16-4-1-2	1	Female	Proband	CAUCASIAN	LGMD2B	36
c.1813C>T	Homozygous	p.Gln605X	605	20	CAG	Ts	TAG	C->T			Absent		IT9-19-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.1813C>T	Homozygous	p.Gln605X	605	20	CAG	Ts	TAG	C->T					USJP3-2-1-0	1	Unknown	Proband	FRANCE	Miyoshi myopathy	8
c.1834C>T	Heterozygous	p.Gln612X	612	20	CAG	Ts	TAG	C->T			Absent		F1-163-1-1	1	Male	Proband	ALGERIA	LGMD2B	1
c.1834C>T	Heterozygous	p.Gln612X	612	20	CAG	Ts	TAG	C->T			Absent	r.1834C>U	IT9-52-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.1834C>T	Heterozygous	p.Gln612X	612	20	CAG	Ts	TAG	C->T					UK2-6-1-0	1	Unknown	Proband	U.K.	LGMD2B	4
c.1834C>T	Heterozygous	p.Gln612X	612	20	CAG	Ts	TAG	C->T			Absent		US21-2-1-1	1	Male	Proband	U.S.A.	unknown	46
c.1834C>T	Heterozygous	p.Gln612X	612	20	CAG	Ts	TAG	C->T			Reduced		US32-26-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.1834C>T	Heterozygous	p.Gln612X	612	20	CAG	Ts	TAG	C->T			Absent		F1-163-2-2	1	Female	Relative	ALGERIA	proximodistal	1
c.1834C>T	Heterozygous	p.Gln612X	612	20	CAG	Ts	TAG	C->T			Absent		US21-2-2-1	1	Male	Relative	U.S.A.	unknown	46
c.1848C>A	Heterozygous	p.Ser616Arg	616	20	AGC	Tv	AGA	C->A			Absent		F1-404-1-2	1	Female	Proband		pseudometabolic	0
c.1852G>A	Homozygous	p.Gly618Arg	618	20	GGG	Ts	AGG	G->A			Reduced		F1-188-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.1852G>A	Heterozygous	p.Gly618Arg	618	20	GGG	Ts	AGG	G->A					G16-6-1-1	1	Male	Proband		unknown	43
c.1852G>A	Heterozygous	p.Gly618Arg	618	20	GGG	Ts	AGG	G->A					IT9-1-1-1	1	Male	Proband	ITALIA	Miyoshi myopathy	23
c.1852G>A	Heterozygous	p.Gly618Arg	618	20	GGG	Ts	AGG	G->A					IT9-1-2-2	1	Female	Relative	ITALIA	Miyoshi myopathy	23
c.1861G>A	Heterozygous	p.Gly621Arg	621	20	GGG	Ts	AGG	G->A			Reduced		IT4-28-1-1	0	Male	Proband	ITALIA	LGMD2B	44
c.1861G>A	Heterozygous	p.Gly621Arg	621	20	GGG	Ts	AGG	G->A			Reduced		IT4-9-1-1	1	Male	Proband	ITALIA	LGMD2B	17
c.1861G>A	Heterozygous	p.Gly621Arg	621	20	GGG	Ts	AGG	G->A			Reduced	r.1861G>A	IT9-46-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.1861G>A	Heterozygous	p.Gly621Arg	621	20	GGG	Ts	AGG	G->A					UK2-34-1-0	1	Unknown	Proband		LGMD2B	54
c.1861G>C	Heterozygous	p.Gly621Arg	621	20	GGG	Tv	CGG	G->C			Absent		US32-3-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.1873G>T	Heterozygous	p.Asp625Tyr	625	20	GAC	Tv	TAC	G->T			Absent		S13-27-1-1	1	Male	Proband	SPAIN	LGMD2B	37
c.1873G>T	Heterozygous	p.Asp625Tyr	625	20	GAC	Tv	TAC	G->T			Reduced		S13-27-2-2	1	Female	Relative	SPAIN	LGMD2B	37
c.1877T>C	Heterozygous	p.Met626Thr	626	20	ATG	Ts	ACG	T->C			No data		F1-167-2-2	1	Female	Relative		unknown	81
c.1911C>A	Homozygous	p.Tyr637X	637	20	TAC	Tv	TAA	C->A			Absent		IT4-34-1-1	1	Male	Proband	ITALIA	LGMD2B	44
c.IVS20-38C>T (c.1931-38C>T)	Heterozygous		644	20_21	GGG	Ts	spl-38	C->T			Absent	r.spl?	F1-324-1-2	0	Female	Proband	CHINA (Han population)	isolated hyperCKaemia	72
c.1948delC	Homozygous	p.Leu650TyrfsX6	650	21	CTA	Fr.	del1a	Stop at 655					F1-190-1-1	1	Male	Proband	CHILE	Miyoshi myopathy	1
c.1958delG	Homozygous	p.Gly653ValfsX3	653	21	GGT	Fr.	del1b	Stop at 655			No data		JP28-18-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.1976dup	Homozygous	p.Val660GlyfsX12	659	21	GTG	Fr.	ins1b	Stop at 671					G8-4-1-1	1	Male	Proband	TURKEY	Miyoshi myopathy	22
c.1984_1994del	Heterozygous	p.Ser662GlyfsX6	662	21	TCA	Fr.	del11a	Stop at 667			Absent	r.1984_1994del	S13-20-1-0	1	Unknown	Proband	SPAIN	LGMD2B	35
c.IVS21+1G>A (c.2055+1G>A)	Heterozygous		685	21	CTG	Ts	spl+1	G->A			Reduced	r.spl?	S13-31-1-1	0	Male	Proband	SPAIN	LGMD2B	67
c.2071C>T	Heterozygous	p.Gln691X	691	22	CAG	Ts	TAG	C->T			Absent		US32-32-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.2077delC	Heterozygous	p.His693ThrfsX4	693	22	CAC	Fr.	del1a	Stop at 696			Reduced		F1-242-1-1	1	Male	Proband	ITALIA	Miyoshi myopathy	55
c.2077delC	Heterozygous	p.His693ThrfsX4	693	22	CAC	Fr.	del1a	Stop at 696			Reduced		IT4-29-1-1	0	Male	Proband	ITALIA	LGMD2B	44
c.2077delC	Heterozygous	p.His693ThrfsX4	693	22	CAC	Fr.	del1a	Stop at 696			Reduced		IT9-29-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2077delC	Homozygous	p.His693ThrfsX4	693	22	CAC	Fr.	del1a	Stop at 696			Reduced		IT9-37-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2077delC	Homozygous	p.His693ThrfsX4	693	22	CAC	Fr.	del1a	Stop at 696			Reduced		IT9-42-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2077delC	Heterozygous	p.His693ThrfsX4	693	22	CAC	Fr.	del1a	Stop at 696			Reduced	r.2077delC	IT9-54-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2077delC	Heterozygous	p.His693ThrfsX4	693	22	CAC	Fr.	del1a	Stop at 696			Reduced	r.2077delC	IT9-60-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.IVS22-1G>T (c.2163-1G>T)	Homozygous		721	22_23	AGC	Tv	spl-1	G->T				r.spl?	UK2-51-1-0	1	Unknown	Proband		LGMD2B	54
c.2193delC	Heterozygous	p.Ser732LeufsX17	731	23	CCC	Fr.	del1c	Stop at 748	Ferlin family domain FerA		Absent		F1-308-1-1	1	Male	Proband	CHINA (Han population)	LGMD2B	72
c.2192C>G	Heterozygous	p.Pro731Arg	731	23	CCC	Tv	CGC	C->G	Ferlin family domain FerA		Absent		F1-61-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.2200_2204delACCCA	Homozygous	p.Thr734ProfsX18	734	23	ACC	Fr.	del5a	Stop at 751	Ferlin family domain FerA		Absent		IT4-11-1-2	1	Female	Proband	ITALIA	Miyoshi myopathy	17
c.2200_2204delACCCA	Homozygous	p.Thr734ProfsX18	734	23	ACC	Fr.	del5a	Stop at 751	Ferlin family domain FerA		No data		IT4-21-1-1	1	Male	Proband	ITALIA	Miyoshi myopathy	17
c.2200_2204delACCCA	Homozygous	p.Thr734ProfsX18	734	23	ACC	Fr.	del5a	Stop at 751	Ferlin family domain FerA		Absent		IT4-22-1-1	1	Male	Proband	ITALIA	LGMD2B	44
c.2200_2204delACCCA	Heterozygous	p.Thr734ProfsX18	734	23	ACC	Fr.	del5a	Stop at 751	Ferlin family domain FerA				IT9-10-1-1	1	Male	Proband	ITALIA	LGMD2B	23
c.2200_2205delinsT	Homozygous		734	23	ACC	indels	indels	indels	Ferlin family domain FerA		Absent		IT9-21-1-O	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2200_2205delinsT	Heterozygous		734	23	ACC	indels	indels	indels	Ferlin family domain FerA		Reduced		IT9-30-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2200_2205delinsT	Homozygous		734	23	ACC	indels	indels	indels	Ferlin family domain FerA		Reduced		IT9-31-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2200_2205delinsT	Heterozygous		734	23	ACC	indels	indels	indels	Ferlin family domain FerA		Absent	r.2200_2205delinsU	IT9-63-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2200_2205delinsT	Heterozygous		734	23	ACC	indels	indels	indels	Ferlin family domain FerA		Reduced	r.2200_2205delinsU	IT9-64-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2200_2204delACCCA	Homozygous	p.Thr734ProfsX18	734	23	ACC	Fr.	del5a	Stop at 751	Ferlin family domain FerA				USJP3-13-1-0	1	Unknown	Proband	ITALIA	Miyoshi myopathy	11
c.2200_2204delACCCA	Homozygous	p.Thr734ProfsX18	734	23	ACC	Fr.	del5a	Stop at 751	Ferlin family domain FerA		Absent		IT4-22-2-2	1	Female	Relative	ITALIA	LGMD2B	44
c.2204_2205delAC	Homozygous	p.His735ProfsX18	735	23	CAC	Fr.	del2b	Stop at 752	Ferlin family domain FerA		Absent		F1-300-1-2	1	Female	Proband	CHINA (Han population)	LGMD2B	72
c.2204_2205delAC	Heterozygous	p.His735ProfsX18	735	23	CAC	Fr.	del2b	Stop at 752	Ferlin family domain FerA		Absent		F1-315-1-1	1	Male	Proband	CHINA (Han population)	Miyoshi myopathy	72
c.2217C>A	Heterozygous	p.Tyr739X	739	23	TAC	Tv	TAA	C->A	Ferlin family domain FerA		Absent		F1-108-1-1	1	Male	Proband	FRANCE	LGMD2B	1
c.2217C>A	Heterozygous	p.Tyr739X	739	23	TAC	Tv	TAA	C->A	Ferlin family domain FerA		Absent		F1-40-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.2217C>A	Heterozygous	p.Tyr739X	739	23	TAC	Tv	TAA	C->A	Ferlin family domain FerA				F1-108-2-2	0	Female	Relative	FRANCE	LGMD2B	1
c.2248C>T	Homozygous	p.Gln750X	750	23	CAA	Ts	TAA	C->T	Ferlin family domain FerA		Absent	r.2248C>U	IT9-53-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2268delG	Homozygous	p.Ala757ProfsX2	756	23	CTG	Fr.	del1c	Stop at 758	Ferlin family domain FerA		Absent		C35-4-1-1	1	Male	Proband	CHINA	LGMD2B	80
c.2311C>T	Heterozygous	p.Gln771X	771	23	CAG	Ts	TAG	C->T			Absent		C35-2-1-1	0	Male	Proband	CHINA	Miyoshi myopathy	80
c.2360A>G	Heterozygous	p.Gln787Arg	787	24	CAG	Ts	CGG	A->G	Ferlin family domain FerB		No data		F1-312-1-2	0	Female	Proband	CHINA (Han population)	LGMD2B	72
c.2372C>G	Homozygous	p.Pro791Arg	791	24	CCG	Tv	CGG	C->G	Ferlin family domain FerB		Absent		CAN15-9-1-0	1	Unknown	Proband	ITALIA	LGMD2B	34
c.2372C>G	Homozygous	p.Pro791Arg	791	24	CCG	Tv	CGG	C->G	Ferlin family domain FerB				UK2-3-1-2	1	Female	Proband	CANADA	Miyoshi myopathy	3
c.2372C>G	Homozygous	p.Pro791Arg	791	24	CCG	Tv	CGG	C->G	Ferlin family domain FerB				UK2-4-1-1	1	Male	Proband	CANADA	LGMD2B	3
c.2372C>G	Homozygous	p.Pro791Arg	791	24	CCG	Tv	CGG	C->G	Ferlin family domain FerB				UK2-5-1-2	1	Female	Proband	CANADA	LGMD2B	3
c.2372C>G	Homozygous	p.Pro791Arg	791	24	CCG	Tv	CGG	C->G	Ferlin family domain FerB				UK2-3-10-2	1	Female	Relative	CANADA	presymptomatic	3
c.2372C>G	Homozygous	p.Pro791Arg	791	24	CCG	Tv	CGG	C->G	Ferlin family domain FerB				UK2-3-2-1	1	Male	Relative	CANADA	Miyoshi myopathy	3
c.2372C>G	Homozygous	p.Pro791Arg	791	24	CCG	Tv	CGG	C->G	Ferlin family domain FerB				UK2-3-3-2	1	Female	Relative	CANADA	LGMD2B	3
c.2372C>G	Homozygous	p.Pro791Arg	791	24	CCG	Tv	CGG	C->G	Ferlin family domain FerB				UK2-3-4-1	1	Male	Relative	CANADA	LGMD2B	3
c.2372C>G	Homozygous	p.Pro791Arg	791	24	CCG	Tv	CGG	C->G	Ferlin family domain FerB				UK2-3-5-2	1	Female	Relative	CANADA	LGMD2B	3
c.2372C>G	Homozygous	p.Pro791Arg	791	24	CCG	Tv	CGG	C->G	Ferlin family domain FerB				UK2-3-6-2	1	Female	Relative	CANADA	LGMD2B	3
c.2372C>G	Homozygous	p.Pro791Arg	791	24	CCG	Tv	CGG	C->G	Ferlin family domain FerB				UK2-3-7-1	1	Male	Relative	CANADA	LGMD2B	3
c.2372C>G	Homozygous	p.Pro791Arg	791	24	CCG	Tv	CGG	C->G	Ferlin family domain FerB				UK2-3-8-2	1	Female	Relative	CANADA	LGMD2B	3
c.2372C>G	Homozygous	p.Pro791Arg	791	24	CCG	Tv	CGG	C->G	Ferlin family domain FerB				UK2-3-9-1	1	Male	Relative	CANADA	LGMD2B	3
c.2372C>G	Homozygous	p.Pro791Arg	791	24	CCG	Tv	CGG	C->G	Ferlin family domain FerB				UK2-4-2-2	1	Female	Relative	CANADA	LGMD2B	3
c.2372C>G	Homozygous	p.Pro791Arg	791	24	CCG	Tv	CGG	C->G	Ferlin family domain FerB				UK2-5-2-2	1	Female	Relative	CANADA	LGMD2B	3
c.2393T>C	Heterozygous	p.Leu798Pro	798	24	CTG	Ts	CCG	T->C	Ferlin family domain FerB		No data		PO27-8-1-1	1	Male	Proband	PORTUGAL	LGMD2B	62
c.2408G>A	Heterozygous	p.Arg803His	803	24	CGT	Ts	CAT	G->A	Ferlin family domain FerB		Reduced		F1-262-1-2	1	Female	Proband		LGMD2B	81
c.2408G>A	Heterozygous	p.Arg803His	803	24	CGT	Ts	CAT	G->A	Ferlin family domain FerB		No data		US26-26-1-2	1	Female	Proband	U.S.A.	LGMD2B	66
c.2490_2509del	Homozygous	p.Leu831IlefsX27	830	24	AAG	Fr.	del20c	Stop at 857	Ferlin family domain FerB		Absent		F1-297-1-2	1	Female	Proband	CHINA (Han population)	LGMD2B	72
c.2493_2496delACAG	Homozygous	p.Thr833SerfsX3	831	24	CTA	Fr.	del4c	Stop at 835	Ferlin family domain FerB		Reduced		IT9-36-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2494C>T	Homozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB		Absent		IT4-31-1-2	1	Female	Proband	ITALIA	LGMD2B	44
c.2494C>T	Heterozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB		Reduced		IT9-38-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2496_2499delGACA	Heterozygous	p.Thr833SerfsX3	832	24	CAG	Fr.	del4c	Stop at 835	Ferlin family domain FerB		Reduced	r.2496_2499del	IT9-57-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2494C>T	Heterozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB		Absent		K10-11-1-2	0	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.2494C>T	Heterozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB		Absent		K10-13-1-2	1	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.2494C>T	Heterozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB		Absent		K10-15-1-1	0	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.2494C>T	Heterozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB		Absent		K10-16-1-1	0	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.2494C>T	Heterozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB		Absent		K10-18-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.2494C>T	Heterozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB		Absent		K10-20-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.2494C>T	Heterozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB		Absent		K10-21-1-2	0	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.2494C>T	Heterozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB		Absent		K10-22-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.2494C>T	Heterozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB		Absent		K10-24-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.2494C>T	Heterozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB		Absent		K10-3-1-1	0	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.2494C>T	Heterozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB				K17-1-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	32
c.2494C>T	Heterozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB				K17-2-1-2	1	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	32
c.2494C>T	Homozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB		Absent		IT4-31-2-1	1	Male	Relative	ITALIA	LGMD2B	44
c.2494C>T	Heterozygous	p.Gln832X	832	24	CAG	Ts	TAG	C->T	Ferlin family domain FerB				K17-1-2-2	1	Female	Relative	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	32
c.2497_2500delACAA	Heterozygous	p.Thr833SerfsX3	833	24	ACA	Fr.	del4a	Stop at 835	Ferlin family domain FerB		Absent		IT4-36-1-2	1	Female	Proband	ITALIA	LGMD2B	44
c.IVS24+1G>A (c.2511+1G>A)	Heterozygous		837	24	AAA	Ts	spl+1	G->A			Reduced	r.spl?	F1-140-2-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.IVS24+1G>A (c.2511+1G>A)	Heterozygous		837	24	AAA	Ts	spl+1	G->A				r.spl?	F1-140-1-2	1	Female	Relative	FRANCE	Miyoshi myopathy	1
c.2512_3174del	Heterozygous	p.Tyr838_Arg1058del	838	25	TAT	InF	del663a	In frame del	Ferlin family domain FerB		Reduced		F1-242-1-1	0	Male	Proband	ITALIA	Miyoshi myopathy	55
c.2512_3174del	Homozygous	p.Tyr838_Arg1058del	838	25	TAT	InF	del663a	In frame del	Ferlin family domain FerB				IT9-9-1-1	1	Male	Proband	ITALIA	Miyoshi myopathy	23
c.2512_3174del	Homozygous	p.Tyr838_Arg1058del	838	25	TAT	InF	del663a	In frame del	Ferlin family domain FerB		Reduced		UK2-8-1-0	1	Unknown	Proband	TURKEY	LGMD2B	4
c.IVS25+2T>G (c.2643+2T>G)	Homozygous		881	25	ACC	Tv	spl+2	T->G	Outer DysF domain, N-terminal		Absent	r.2512_2643del (exon 25 skipping)	CAN15-4-1-0	1	Unknown	Proband	ITALIA	Miyoshi myopathy	34
c.IVS25+1G>A (c.2643+1G>A)	Heterozygous		881	25	ACC	Ts	spl+1	G->A				r.spl?	F1-118-1-2	0	Female	Proband	FRANCE	proximodistal	1
c.IVS25+1G>A (c.2643+1G>A)	Homozygous		881	25	ACC	Ts	spl+1	G->A			Absent	r.spl?	F1-25-1-1	1	Male	Proband	MAGHREB	Miyoshi myopathy	1
c.IVS25+1G>A (c.2643+1G>A)	Homozygous		881	25	ACC	Ts	spl+1	G->A			Absent	r.spl?	F1-47-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.IVS25+1G>A (c.2643+1G>A)	Heterozygous		881	25	ACC	Ts	spl+1	G->A				r.spl?	F1-85-1-2	0	Female	Proband	IRAN	Miyoshi myopathy	1
c.IVS25+1G>C (c.2643+1G>C)	Heterozygous		881	25	ACC		spl+1	G>C	Outer DysF domain, N-terminal		Absent	r.2512_2643del (exon 25 skipping)	IT9-28-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.IVS25+1G>A (c.2643+1G>A)	Heterozygous		881	25	ACC		spl+1	G>A	Outer DysF domain, N-terminal		No data	r.spl?	JP28-13-1-1	0	Male	Proband	JAPAN	LGMD2B	69
c.IVS25+1G>A (c.2643+1G>A)	Heterozygous		881	25	ACC		spl+1	G>A	Outer DysF domain, N-terminal		No data	r.spl?	JP28-17-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.IVS25+1G>A (c.2643+1G>A)	Homozygous		881	25	ACC		spl+1	G>A	Outer DysF domain, N-terminal		No data	r.spl?	JP28-20-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.IVS25+1G>A (c.2643+1G>A)	Homozygous		881	25	ACC	Ts	spl+1	G->A				r.spl?	JP5-16-1-0	1	Unknown	Proband	JAPAN	LGMD2B	19
c.IVS25+2T>C (c.2643+2T>C)	Heterozygous		881	25	ACC	Ts	spl+2	T->C				r.spl?	UK2-32-1-0	0	Unknown	Proband		LGMD2B	54
c.2641A>C	Heterozygous	p.Thr881Pro	881	25	ACC	Tv	CCC	A->C	Outer DysF domain, N-terminal		Absent		US21-11-1-1	1	Male	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	46
c.IVS25+1G>A (c.2643+1G>A)	Heterozygous		881	25	ACC	Ts	spl+1	G->A			Absent	r.spl?	US21-9-1-2	1	Female	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	46
c.IVS25+1G>A (c.2643+1G>A)	Heterozygous		881	25	ACC	Ts	spl+1	G->A			Absent	r.spl?	US26-1-1-1	1	Male	Proband		proximodistal	58
c.IVS25+1G>A (c.2643+1G>A)	Heterozygous		881	25	ACC		spl+1	G>A	Outer DysF domain, N-terminal		No data	r.spl?	US26-20-1-1	1	Male	Proband	U.S.A.	proximodistal	66
c.IVS25+1G>A (c.2643+1G>A)	Heterozygous		881	25	ACC		spl+1	G>A	Outer DysF domain, N-terminal		Reduced	r.spl?	US32-12-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.IVS25+1G>A (c.2643+1G>A)	Homozygous		881	25	ACC		spl+1	G>A	Outer DysF domain, N-terminal		No data	r.spl?	US32-20-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.IVS25+5G>A (c.2643+5G>A)	Heterozygous		881	25	ACC		spl+5	G>A	Outer DysF domain, N-terminal		No data	r.spl?	US32-33-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.2641A>C	Heterozygous	p.Thr881Pro	881	25	ACC	Tv	CCC	A->C	Outer DysF domain, N-terminal		Absent		US32-5-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.IVS25+1G>A (c.2643+1G>A)	Heterozygous		881	25	ACC	Ts	spl+1	G->A				r.spl?	USJP3-34-1-1	0	Male	Proband	JAPAN	Miyoshi myopathy	13
c.IVS25+1G>A (c.2643+1G>A)	Heterozygous		881	25	ACC	Ts	spl+1	G->A				r.spl?	USJP3-46-1-1	1	Male	Proband	JAPAN	rigid spine syndrome	14
c.IVS25+1G>A (c.2643+1G>A)	Homozygous		881	25	ACC	Ts	spl+1	G->A				r.spl?	USJP3-9-1-0	1	Unknown	Proband	JAPAN	LGMD2B	10
c.IVS25+1G>A (c.2643+1G>A)	Homozygous		881	25	ACC	Ts	spl+1	G->A				r.spl?	F1-25-2-2	1	Female	Relative	MAGHREB	Miyoshi myopathy	1
c.IVS25+1G>A (c.2643+1G>A)	Homozygous		881	25	ACC	Ts	spl+1	G->A				r.spl?	F1-25-3-1	1	Male	Relative	MAGHREB	Miyoshi myopathy	1
c.IVS25+1G>C (c.2643+1G>C)	Heterozygous		881	25	ACC		spl+1	G>C	Outer DysF domain, N-terminal		Absent	r.2512_2643del (exon 25 skipping)	IT9-28-2-0	1	Unknown	Relative		LGMD2B or Miyoshi myopathy	64
c.IVS25-2A>G (c.2644-2A>G)	Heterozygous		882	26	TAT	Ts	spl-2	A->G				r.spl?	USJP3-11-1-0	1	Unknown	Proband	JAPAN	Miyoshi myopathy	10
c.IVS25-2A>G (c.2644-2A>G)	Heterozygous		882	26	TAT	Ts	spl-2	A->G	Outer DysF domain, N-terminal		Reduced	r.spl?	USJP3-49-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	38
c.IVS25-2A>G (c.2644-2A>G)	Heterozygous		882	26	TAT	Ts	spl-2	A->G	Outer DysF domain, N-terminal		Reduced	r.spl?	USJP3-49-2-2	0	Female	Relative	JAPAN	Miyoshi myopathy	38
c.2659A>T	Heterozygous	p.Lys887X	887	26	AAG	Tv	TAG	A->T	Outer DysF domain, N-terminal				UK2-54-1-0	1	Unknown	Proband		LGMD2B	54
c.2706dup	Heterozygous	p.Lys903GlnfsX4	903	26	AAG	Fr.	ins1a	Stop at 906	Outer DysF domain, N-terminal		Absent		IT9-44-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal				F1-162-1-2	1	Female	Proband	IRAN	pseudometabolic	1
c.2779delG	Heterozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Absent		F1-30-1-2	0	Female	Proband	FRANCE	Miyoshi myopathy	1
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal				F1-88-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Reduced		IS18-1-1-0	1	Unknown	Proband	Caucasian jewish	Miyoshi myopathy	39
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Reduced		IS18-2-1-0	1	Unknown	Proband	Caucasian jewish	Miyoshi myopathy	39
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Reduced		IS18-3-1-0	1	Unknown	Proband	Caucasian jewish	LGMD2B	39
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Reduced		IS18-4-1-0	1	Unknown	Proband	Caucasian jewish	LGMD2B	39
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Reduced		IS18-5-1-0	1	Unknown	Proband	Caucasian jewish	Miyoshi myopathy	39
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Reduced		IS18-6-1-0	1	Unknown	Proband	Caucasian jewish	proximodistal	39
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Reduced		IS18-7-1-0	1	Unknown	Proband	Caucasian jewish	proximodistal	39
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Reduced		IS18-8-1-0	1	Unknown	Proband	Caucasian jewish	isolated hyperCKaemia	39
c.2779delG	Heterozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Reduced	r.2779delG	IT9-26-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Reduced		S13-28-1-1	1	Male	Proband	SPAIN	congenital muscular dystrophy	52
c.2779delG	Heterozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Absent		S13-30-1-1	1	Male	Proband	SPAIN	LGMD2B	67
c.2779delG	Heterozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Absent		US21-15-1-1	0	Male	Proband		LGMD2B or Miyoshi myopathy	50
c.2779delG	Heterozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Absent		US21-4-1-2	1	Female	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	46
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Absent		US34-1-1-2	1	Female	Proband	TURKEY	congenital muscular dystrophy	79
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Reduced		IS18-1-2-0	1	Unknown	Relative	Caucasian jewish	Miyoshi myopathy	39
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		Reduced		IS18-2-2-0	1	Unknown	Relative	Caucasian jewish	Miyoshi myopathy	39
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		No data		S13-28-2-2	1	Female	Relative	SPAIN	congenital muscular dytrophy	52
c.2779delG	Homozygous	p.Ala927LeufsX21	927	26	GCT	Fr.	del1a	Stop at 947	Outer DysF domain, N-terminal		No data		US34-1-2-1	1	Male	Relative	TURKEY	congenital muscular dystrophy	79
c.2790G>C	Heterozygous	p.Trp930Cys	930	26	TGG	Tv	TGC	G->C	Outer DysF domain, N-terminal		Absent		CAN15-3-1-0	1	Unknown	Proband	ITALIA	LGMD2B	34
c.2790G>C	Heterozygous	p.Trp930Cys	930	26	TGG	Tv	TGC	G->C	Outer DysF domain, N-terminal		Absent		F1-174-1-1	1	Male	Proband	U.S.A.	LGMD2B	1
c.2803G>A	Heterozygous	p.Glu935Lys	935	26	GAG	Ts	AAG	G->A			Absent		C35-1-1-2	1	Female	Proband	CHINA	LGMD2B	80
c.IVS26+1G>A (c.2810+1G>A)	Heterozygous		937	26_27	ACT	Ts	spl+1	G->A			Absent		C35-7-1-1	1	Male	Proband	CHINA	LGMD2B	80
c.IVS26+1G>A (c.2810+1G>A)	Heterozygous		937	26_27	ACT	Ts	spl+1	G->A			Reduced	r.spl?	F1-161-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.2810C>T	Homozygous	p.Thr937Ile	937	26_27	ACT	Ts	ATT	C->T			Reduced		F1-337-1-2	0	Female	Proband		Miyoshi myopathy	0
c.IVS26+1G>C (c.2810+1G>C)	Homozygous		937	26_27	ACT	Tv	spl+1	G->C			Absent	r.spl?	IT4-27-1-1	1	Male	Proband	ITALIA	LGMD2B	44
c.2813T>G	Heterozygous	p.Leu938Arg	938	27	CTG	Tv	CGG	T->G			Absent		S13-23-1-0	1	Unknown	Proband	SPAIN	LGMD2B	35
c.2837delA	Heterozygous	p.His946ProfsX2	946	27	CAC	Fr.	del1b	Stop at 947	Inner DysF domain, N-terminal				UK2-38-1-0	1	Unknown	Proband		Miyoshi myopathy	54
c.2858dup	Heterozygous	p.Phe954ValfsX2	953	27	GTG	Fr.	ins1b	Stop at 955	Inner DysF domain, N-terminal		Absent		CAN15-2-1-0	1	Unknown	Proband	ITALIA	LGMD2B	34
c.2858dup	Heterozygous	p.Phe954ValfsX2	953	27	GTG	Fr.	ins1b	Stop at 955	Inner DysF domain, N-terminal				F1-184-1-2	0	Female	Proband	CHILE	Miyoshi myopathy	1
c.2858dup	Homozygous	p.Phe954ValfsX2	953	27	GTG	Fr.	ins1b	Stop at 955	Inner DysF domain, N-terminal		Reduced		F1-5-1-1	1	Male	Proband	TUNISIA	LGMD2B	1
c.2858dup	Homozygous	p.Phe954ValfsX2	953	27	GTG	Fr.	ins1b	Stop at 955	Inner DysF domain, N-terminal		Absent		S13-7-1-0	1	Unknown	Proband	SPAIN	LGMD2B	35
c.2858dup	Homozygous	p.Phe954ValfsX2	953	27	GTG	Fr.	ins1b	Stop at 955	Inner DysF domain, N-terminal		Absent		S13-7-2-0	1	Unknown	Relative	SPAIN	LGMD2B	35
c.2875C>T	Homozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal		Absent		IT4-10-1-1	1	Male	Proband	ITALIA	Miyoshi myopathy	17
c.2875C>T	Heterozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal		Reduced		IT4-19-1-2	0	Female	Proband	ITALIA	LGMD2B	17
c.2875C>T	Heterozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal		Reduced		IT4-26-1-1	1	Male	Proband	ITALIA	LGMD2B	44
c.2875C>T	Heterozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal				IT4-3-1-2	1	Female	Proband	ITALIA	LGMD2B	16
c.2875C>T	Homozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal		Reduced		IT4-33-1-2	1	Female	Proband	ITALIA	LGMD2B	44
c.2875C>T	Homozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal				IT4-4-1-1	1	Male	Proband	ITALIA	LGMD2B	16
c.2875C>T	Homozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal		Reduced		IT9-22-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2875C>T	Homozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal		Absent		IT9-43-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2875C>T	Heterozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal		Reduced		IT9-47-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.2875C>T	Homozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal				IT9-6-2-1	1	Male	Proband	ITALIA	proximodistal	23
c.2875C>T	Homozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal		Absent		S13-34-1-2	1	Female	Proband	SPAIN	LGMD2B	67
c.2875C>T	Heterozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal		Absent		S13-5-1-0	1	Unknown	Proband	SPAIN	LGMD2B	35
c.2875C>T	Heterozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal				UK2-30-1-0	1	Unknown	Proband		Miyoshi myopathy	54
c.2875C>T	Homozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal		Absent		IT4-10-2-1	1	Male	Relative	ITALIA	Miyoshi myopathy	17
c.2875C>T	Heterozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal		No data		IT4-26-2-1	1	Male	Relative	ITALIA	LGMD2B	44
c.2875C>T	Heterozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal				IT4-3-2-2	1	Female	Relative	ITALIA	LGMD2B	16
c.2875C>T	Homozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal				IT9-6-1-1	1	Male	Relative	ITALIA	isolated hyperCKaemia	23
c.2875C>T	Heterozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal		Reduced		IT9-6-3-1	1	Male	Relative	ITALIA	normal	33
c.2875C>T	Heterozygous	p.Arg959Trp	959	27	CGG	Ts	TGG	C->T	Inner DysF domain, N-terminal		Absent		S13-5-2-0	1	Unknown	Relative	SPAIN	LGMD2B	35
c.2894G>A	Heterozygous	p.Trp965X	965	27	TGG	Ts	TAG	G->A	Inner DysF domain, N-terminal		Reduced		F1-183-1-2	0	Female	Proband	FRANCE	LGMD2B	1
c.2902A>T	Heterozygous	p.Met968Leu	968	27	ATG	Tv	TTG	A->T	Inner DysF domain, N-terminal		Absent		US21-13-1-2	1	Female	Proband		LGMD2B or Miyoshi myopathy	50
c.2940delG	Heterozygous	p.Leu981PhefsX76	980	28	GTG	Fr.	del1c	Stop at 1056	Inner DysF domain, N-terminal		Reduced		F1-310-1-1	1	Male	Proband	CHINA (Han population)	LGMD2B	72
c.2975G>A	Homozygous	p.Trp992X	992	28	TGG	Ts	TAG	G->A	Inner DysF domain, N-terminal				F1-111-2-2	1	Female	Proband	KUWAIT	Miyoshi myopathy	1
c.2974T>C	Homozygous	p.Trp992Arg	992	28	TGG	Ts	CGG	T->C	Inner DysF domain, N-terminal		No data		JP28-27-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.2974T>C	Heterozygous	p.Trp992Arg	992	28	TGG	Ts	CGG	T->C	Inner DysF domain, N-terminal		No data		JP28-31-1-2	0	Female	Proband	JAPAN	LGMD2B	69
c.2974T>C	Heterozygous	p.Trp992Arg	992	28	TGG	Ts	CGG	T->C	Inner DysF domain, N-terminal				K17-2-1-2	0	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	32
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		F1-475-1-1	1	Male	Proband		LGMD2B or Miyoshi myopathy	81
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-1-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-10-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-11-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-12-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-13-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-14-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-15-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-16-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-2-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-3-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-37-1-2	1	Female	Proband	JAPAN	LGMD2B	61
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-4-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-5-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-6-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-7-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-8-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		No data		JP28-9-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				JP5-2-1-0	1	Unknown	Proband	JAPAN	LGMD2B	19
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				JP5-3-1-0	1	Unknown	Proband	JAPAN	LGMD2B	19
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				JP5-4-1-0	1	Unknown	Proband	JAPAN	LGMD2B	19
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				JP5-5-1-0	1	Unknown	Proband	JAPAN	Miyoshi myopathy	19
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				JP5-6-1-0	1	Unknown	Proband	JAPAN	LGMD2B	19
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				JP5-7-1-0	0	Unknown	Proband	JAPAN	LGMD2B	19
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		Absent		K10-23-1-2	0	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	LGMD2B	68
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		Absent		K10-6-1-1	0	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				K17-1-1-1	0	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	32
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		Reduced		US21-19-1-2	1	Female	Proband		LGMD2B or Miyoshi myopathy	50
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		Absent		US32-29-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				USJP3-10-1-0	1	Unknown	Proband	JAPAN	LGMD2B	10
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				USJP3-26-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	13
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				USJP3-32-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	13
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				USJP3-33-1-1	0	Male	Proband	JAPAN	Miyoshi myopathy	13
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				USJP3-35-1-2	1	Female	Proband	JAPAN	Miyoshi myopathy	13
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				USJP3-46-1-1	0	Male	Proband	JAPAN	rigid spine syndrome	14
c.2997G>T	Homozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				USJP3-48-1-1	1	Male	Proband	JAPAN	LGMD2B	31
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		Reduced		USJP3-49-1-1	0	Male	Proband	JAPAN	Miyoshi myopathy	38
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				K17-1-2-2	0	Female	Relative	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	32
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				USJP3-35-2-1	1	Male	Relative	JAPAN	Miyoshi myopathy	13
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal				USJP3-35-3-1	1	Male	Relative	JAPAN	Miyoshi myopathy	13
c.2997G>T	Heterozygous	p.Trp999Cys	999	28	TGG	Tv	TGT	G->T	Inner DysF domain, N-terminal		Reduced		USJP3-49-2-2	1	Female	Relative	JAPAN	Miyoshi myopathy	38
c.3028C>T	Heterozygous	p.Gln1010X	1010	28	CAA	Ts	TAA	C->T					UK2-33-1-0	1	Unknown	Proband		Miyoshi myopathy	54
c.3028C>T	Heterozygous	p.Gln1010X	1010	28	CAA	Ts	TAA	C->T					UK2-33-2-0	1	Unknown	Relative		Miyoshi myopathy	54
c.IVS28+2T>C (c.3031+2T>C)	Heterozygous		1011	28_29	GGC	Ts	spl+2	T->C				r.spl?	F1-159-1-0	0	Unknown	Proband	SWITZERLAND	LGMD2B	1
c.3031G>C	Heterozygous	p.Gly1011Arg	1011	28_29	GGC	Tv	CGC	G->C	Inner DysF domain, C-terminal				UK2-52-1-0	1	Unknown	Proband		proximodistal	54
c.IVS28+2T>C (c.3031+2T>C)	Heterozygous		1011	28_29	GGC	Ts	spl+2	T->C				r.spl?	F1-159-2-0	0	Unknown	Relative	SWITZERLAND	LGMD2B	1
c.3035G>A	Homozygous	p.Trp1012X	1012	29	TGG	Ts	TAG	G->A	Inner DysF domain, C-terminal		Reduced		F1-75-1-1	1	Male	Proband	ALGERIA	LGMD2B	1
c.3035G>A	Homozygous	p.Trp1012X	1012	29	TGG	Ts	TAG	G->A	Inner DysF domain, C-terminal		Reduced		F1-75-2-1	1	Male	Relative	ALGERIA	LGMD2B	1
c.3041A>G	Heterozygous	p.Tyr1014Cys	1014	29	TAT	Ts	TGT	A->G	Inner DysF domain, C-terminal		Absent		US26-13-1-1	1	Male	Proband		Miyoshi myopathy	58
c.3041A>G	Homozygous	p.Tyr1014Cys	1014	29	TAT	Ts	TGT	A->G	Inner DysF domain, C-terminal		Absent		US26-18-1-1	1	Male	Proband		LGMD2B	58
c.3061dup	Homozygous	p.Glu1021GlyfsX11	1021	29	GAG	Fr.	ins1b	Stop at 1031	Inner DysF domain, C-terminal				S13-19-1-0	1	Unknown	Proband	SPAIN	DMAT	35
c.3064C>T	Heterozygous	p.Arg1022Trp	1022	29	CGG	Ts	TGG	C->T	Inner DysF domain, C-terminal		Reduced		F1-328-1-2	1	Female	Proband	CHINA (Han population)	LGMD2B	72
c.3065G>A	Heterozygous	p.Arg1022Gln	1022	29	CGG	Ts	CAG	G->A	Inner DysF domain, C-terminal		No data		F1-477-1-2	1	Female	Proband		LGMD2B or Miyoshi myopathy	81
c.3065G>A	Heterozygous	p.Arg1022Gln	1022	29	CGG	Ts	CAG	G->A	Inner DysF domain, C-terminal				F1-80-1-0	1	Unknown	Proband	FRANCE	LGMD2B	1
c.3065G>A	Heterozygous	p.Arg1022Gln	1022	29	CGG	Ts	CAG	G->A	Inner DysF domain, C-terminal		Absent	r.3065G>A	IT9-62-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.3065G>A	Heterozygous	p.Arg1022Gln	1022	29	CGG	Ts	CAG	G->A	Inner DysF domain, C-terminal		Reduced		US26-10-1-1	1	Male	Proband		LGMD2B	58
c.3065G>A	Heterozygous	p.Arg1022Gln	1022	29	CGG	Ts	CAG	G->A	Inner DysF domain, C-terminal		No data		US26-24-1-1	1	Male	Proband	U.S.A.	LGMD2B	66
c.3086C>T	Heterozygous	p.Pro1029Leu	1029	29	CCT	Ts	CTT	C->T	Inner DysF domain, C-terminal				F1-48-1-2	1	Female	Proband	BELGIUM	Miyoshi myopathy	1
c.3086C>T	Heterozygous	p.Pro1029Leu	1029	29	CCT	Ts	CTT	C->T	Inner DysF domain, C-terminal				F1-48-2-2	1	Female	Relative	BELGIUM	Miyoshi myopathy	1
c.3094A>G	Heterozygous	p.Lys1032Glu	1032	29	AAG	Ts	GAG	A->G	Inner DysF domain, C-terminal		Reduced		F1-302-1-2	0	Female	Proband	CHINA (Han population)	LGMD2B	72
c.3094A>G	Heterozygous	p.Lys1032Glu	1032	29	AAG	Ts	GAG	A->G	Inner DysF domain, C-terminal		Absent		F1-319-1-1	0	Male	Proband	CHINA (Han population)	exercise intolerance	72
c.3102C>G	Heterozygous	p.Tyr1034X	1034	29	TAC	Tv	TAG	C->G	Inner DysF domain, C-terminal		Absent		K10-2-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.3112C>T	Homozygous	p.Arg1038X	1038	29	CGA	Ts	TGA	C->T	Inner DysF domain, C-terminal		Absent		C29-1-1-2	1	Female	Proband	CHINA	Miyoshi myopathy	70
c.3112C>T	Homozygous	p.Arg1038X	1038	29	CGA	Ts	TGA	C->T	Inner DysF domain, C-terminal		Absent		C29-2-1-1	1	Male	Proband	CHINA	Miyoshi myopathy	70
c.3112C>T	Heterozygous	p.Arg1038X	1038	29	CGA	Ts	TGA	C->T	Inner DysF domain, C-terminal		Absent		C35-1-1-2	0	Female	Proband	CHINA	LGMD2B	80
c.3112C>T	Heterozygous	p.Arg1038X	1038	29	CGA	Ts	TGA	C->T	Inner DysF domain, C-terminal		Absent		F1-117-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.3112C>T	Heterozygous	p.Arg1038X	1038	29	CGA	Ts	TGA	C->T	Inner DysF domain, C-terminal		Absent		F1-309-1-2	1	Female	Proband	CHINA (Han population)	LGMD2B	72
c.3113G>A	Heterozygous	p.Arg1038Gln	1038	29	CGA	Ts	CAA	G->A	Inner DysF domain, C-terminal		Absent		F1-318-1-1	1	Male	Proband	CHINA (Han population)	exercise intolerance	72
c.3113G>A	Heterozygous	p.Arg1038Gln	1038	29	CGA	Ts	CAA	G->A	Inner DysF domain, C-terminal		Absent		F1-324-1-2	1	Female	Proband	CHINA (Han population)	isolated hyperCKaemia	72
c.3113G>A	Heterozygous	p.Arg1038Gln	1038	29	CGA	Ts	CAA	G->A	Inner DysF domain, C-terminal				F1-65-1-2	0	Female	Proband	FRANCE	Miyoshi myopathy	1
c.3113G>A	Heterozygous	p.Arg1038Gln	1038	29	CGA	Ts	CAA	G->A	Inner DysF domain, C-terminal				IT4-2-1-1	1	Male	Proband	ITALIA	LGMD2B	16
c.3113G>A	Heterozygous	p.Arg1038Gln	1038	29	CGA	Ts	CAA	G->A	Inner DysF domain, C-terminal		Reduced		IT9-29-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.3112C>T	Heterozygous	p.Arg1038X	1038	29	CGA	Ts	TGA	C->T	Inner DysF domain, C-terminal		No data		JP28-21-1-1	0	Male	Proband	JAPAN	LGMD2B	69
c.3112C>T	Heterozygous	p.Arg1038X	1038	29	CGA	Ts	TGA	C->T	Inner DysF domain, C-terminal		No data		JP28-39-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	61
c.3112C>T	Homozygous	p.Arg1038X	1038	29	CGA	Ts	TGA	C->T	Inner DysF domain, C-terminal				UK2-28-1-0	1	Unknown	Proband		LGMD2B	54
c.3113G>A	Heterozygous	p.Arg1038Gln	1038	29	CGA	Ts	CAA	G->A	Inner DysF domain, C-terminal		Absent		US21-12-1-2	1	Female	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	46
c.3113G>A	Heterozygous	p.Arg1038Gln	1038	29	CGA	Ts	CAA	G->A	Inner DysF domain, C-terminal		Absent		US21-3-1-2	1	Female	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	46
c.3113G>A	Heterozygous	p.Arg1038Gln	1038	29	CGA	Ts	CAA	G->A	Inner DysF domain, C-terminal		Absent		US32-32-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.3113G>A	Heterozygous	p.Arg1038Gln	1038	29	CGA	Ts	CAA	G->A	Inner DysF domain, C-terminal		No data		US32-33-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.3113G>A	Heterozygous	p.Arg1038Gln	1038	29	CGA	Ts	CAA	G->A	Inner DysF domain, C-terminal				IT4-2-2-1	1	Male	Relative	ITALIA	LGMD2B	16
c.3116G>C	Heterozygous	p.Arg1039Pro	1039	29	CGG	Tv	CCG	G->C	Inner DysF domain, C-terminal		Reduced		F1-323-1-1	1	Male	Proband	CHINA (Han population)	isolated hyperCKaemia	72
c.3116G>T	Heterozygous	p.Arg1039Leu	1039	29	CGG	Tv	CTG	G->T	Inner DysF domain, C-terminal		Absent		S13-26-1-0	1	Unknown	Proband	SPAIN	Miyoshi myopathy	35
c.3116G>T	Heterozygous	p.Arg1039Leu	1039	29	CGG	Tv	CTG	G->T	Inner DysF domain, C-terminal		Absent		S13-26-2-0	1	Unknown	Relative	SPAIN	Miyoshi myopathy	35
c.3121C>T	Homozygous	p.Arg1041Cys	1041	29	CGC	Ts	TGC	C->T	Inner DysF domain, C-terminal				IT9-8-1-1	1	Male	Proband	ITALIA	Miyoshi myopathy	23
c.3126G>A	Heterozygous	p.Trp1042X	1042	29	TGG	Ts	TGA	G->A	Inner DysF domain, C-terminal		Absent		F1-1-1-1	0	Male	Proband	FRANCE	proximodistal	1
c.3126G>A	Heterozygous	p.Trp1042X	1042	29	TGG	Ts	TGA	G->A	Inner DysF domain, C-terminal		Absent		F1-112-1-2	0	Female	Proband	FRANCE	Miyoshi myopathy	1
c.3130C>A	Heterozygous	p.Arg1044Ser	1044	29	CGC	Tv	AGC	C->A	Inner DysF domain, C-terminal		Absent		S13-25-1-0	0	Unknown	Proband	SPAIN	DMAT	35
c.3137G>A	Heterozygous	p.Arg1046His	1046	29	CGC	Ts	CAC	G->A	Inner DysF domain, C-terminal		Reduced		F1-140-2-1	0	Male	Proband	FRANCE	Miyoshi myopathy	1
c.3137G>A	Heterozygous	p.Arg1046His	1046	29	CGC	Ts	CAC	G->A	Inner DysF domain, C-terminal		Absent		F1-303-1-1	0	Male	Proband	CHINA (Han population)	LGMD2B	72
c.3137G>A	Heterozygous	p.Arg1046His	1046	29	CGC	Ts	CAC	G->A	Inner DysF domain, C-terminal		Absent		F1-90-1-0	0	Unknown	Proband	FRANCE	Miyoshi myopathy	1
c.3137G>A	Heterozygous	p.Arg1046His	1046	29	CGC	Ts	CAC	G->A	Inner DysF domain, C-terminal		No data		US32-13-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.3137G>A	Homozygous	p.Arg1046His	1046	29	CGC	Ts	CAC	G->A	Inner DysF domain, C-terminal				USJP3-14-1-0	1	Unknown	Proband	JAPAN	Miyoshi myopathy	11
c.3137G>A	Heterozygous	p.Arg1046His	1046	29	CGC	Ts	CAC	G->A	Inner DysF domain, C-terminal				F1-140-1-2	0	Female	Relative	FRANCE	Miyoshi myopathy	1
c.3145delG	Heterozygous	p.Asp1049IlefsX8	1049	29	GAT	Fr.	del1a	Stop at 1056	Inner DysF domain, C-terminal		Absent	r.3145delG	IT9-35-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.3149_3150delTC	Heterozygous	p.Leu1050GlnfsX63	1050	29	CTC	Fr.	del2b	Stop at 1112			Reduced		IT9-24-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.3181delC	Heterozygous	p.Gln1061ArgfsX59	1061	30	CAG	Fr.	del1a	Stop at 1119			Absent		US21-13-1-2	0	Female	Proband		LGMD2B or Miyoshi myopathy	50
c.3181delC	Heterozygous	p.Gln1061ArgfsX59	1061	30	CAG	Fr.	del1a	Stop at 1119			Reduced		US21-18-1-1	0	Male	Proband		LGMD2B or Miyoshi myopathy	50
c.3191_3196dup	Heterozygous	p.Gly1066delinsAlaAla	1066	30	GGC	Fr.	ins6b	In frame ins					UK2-35-1-0	0	Unknown	Proband		LGMD2B	54
c.3207G>A	Heterozygous	p.Trp1069X	1069	30	TGG	Ts	TGA	G->A	Outer DysF domain, C-terminal		Absent		F1-105-1-1	1	Male	Proband	FRANCE	LGMD2B	78
c.3213C>G	Homozygous	p.Tyr1071X	1071	30	TAC	Tv	TAG	C->G	Outer DysF domain, C-terminal		No data		F1-336-1-2	1	Female	Proband	NETHERLAND	Miyoshi myopathy	74
c.3220_3221delCT	Homozygous	p.Leu1074PhefsX39	1074	30	CTT	Fr.	del2a	Stop at 1112	Outer DysF domain, C-terminal		Absent		F1-298-1-2	1	Female	Proband	CHINA (Han population)	LGMD2B	72
c.3220_3221delCT	Heterozygous	p.Leu1074PhefsX39	1074	30	CTT	Fr.	del2a	Stop at 1112	Outer DysF domain, C-terminal		Reduced		F1-310-1-1	0	Male	Proband	CHINA (Han population)	LGMD2B	72
c.3220_3221delCT	Heterozygous	p.Leu1074PhefsX39	1074	30	CTT	Fr.	del2a	Stop at 1112	Outer DysF domain, C-terminal		Absent		F1-316-1-2	0	Female	Proband	CHINA (Han population)	Miyoshi myopathy	72
c.3225delT	Homozygous	p.Phe1075LeufsX45	1075	30	TTT	Fr.	del1c	Stop at 1119	Outer DysF domain, C-terminal				F1-192-1-1	1	Male	Proband	MAGHREB	LGMD2B	1
c.3282_9dup	Heterozygous	p.Trp1094delinsCysVal	1094	30	TGG	Fr.	ins6c	In frame ins	Outer DysF domain, C-terminal		Absent		K10-5-1-2	0	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	LGMD2B	68
c.3307A>T	Heterozygous	p.Lys1103X	1103	30	AAG	Tv	TAG	A->T					K17-3-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	32
c.3325_7dup	Heterozygous	p.Val1109SerfsX6	1109	30	GTG	Fr.	ins4a	Stop at 1114			Absent		F1-68-1-2	1	Female	Proband	FRANCE	isolated hyperCKaemia	1
c.3327_3328delGT	Heterozygous	p.Phe1110CysfsX3	1109	30	GTG	Fr.	del2c	Stop at 1112			Reduced		US32-12-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.IVS30+1delGTAT (c.3348+1delGTAT)	Heterozygous		1116	30	CTG	Tv	spl+1	delGTAT			Absent	r.spl?	F1-86-1-2	0	Female	Proband	FRANCE	Miyoshi myopathy	1
c.IVS30-2A>G (c.3349-2A>G)	Heterozygous		1117	31	GGC	Ts	spl-2	A->G				r.spl?	UK2-35-1-0	0	Unknown	Proband		LGMD2B	54
c.3373delG	Heterozygous	p.Glu1125LysfsX9	1125	31	GAA	Fr.	del1a	Stop at 1133			No data		JP28-35-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.3373delG	Heterozygous	p.Glu1125LysfsX9	1125	31	GAA	Fr.	del1a	Stop at 1133			No data		JP28-40-1-1	0	Male	Proband	JAPAN	Miyoshi myopathy	61
c.3373delG	Homozygous	p.Glu1125LysfsX9	1125	31	GAA	Fr.	del1a	Stop at 1133					JP5-13-1-0	1	Unknown	Proband	JAPAN	Miyoshi myopathy	19
c.3373delG	Heterozygous	p.Glu1125LysfsX9	1125	31	GAA	Fr.	del1a	Stop at 1133					USJP3-11-1-0	0	Unknown	Proband	JAPAN	Miyoshi myopathy	10
c.3373delG	Homozygous	p.Glu1125LysfsX9	1125	31	GAA	Fr.	del1a	Stop at 1133					USJP3-15-1-0	1	Unknown	Proband	JAPAN	Miyoshi myopathy	11
c.3373delG	Homozygous	p.Glu1125LysfsX9	1125	31	GAA	Fr.	del1a	Stop at 1133					USJP3-21-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	12
c.3373delG	Homozygous	p.Glu1125LysfsX9	1125	31	GAA	Fr.	del1a	Stop at 1133					USJP3-28-1-2	1	Female	Proband	JAPAN	Miyoshi myopathy	13
c.3373delG	Homozygous	p.Glu1125LysfsX9	1125	31	GAA	Fr.	del1a	Stop at 1133					USJP3-29-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	13
c.3373delG	Heterozygous	p.Glu1125LysfsX9	1125	31	GAA	Fr.	del1a	Stop at 1133					USJP3-30-1-1	0	Male	Proband	JAPAN	Miyoshi myopathy	13
c.3373delG	Heterozygous	p.Glu1125LysfsX9	1125	31	GAA	Fr.	del1a	Stop at 1133					USJP3-43-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	13
c.3373delG	Heterozygous	p.Glu1125LysfsX9	1125	31	GAA	Fr.	del1a	Stop at 1133					USJP3-45-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	13
c.3389_3399dup	Heterozygous	p.Phe1135ProfsX3	1134	31	AGC	Fr.	ins11a	Stop at 1137			Absent		F1-103-1-1	0	Male	Proband	FRANCE	LGMD2B	1
c.3389_3399dup	Heterozygous	p.Phe1135ProfsX3	1134	31	AGC	Fr.	ins11a	Stop at 1137					F1-103-2-1	1	Male	Relative	FRANCE	presymptomatic	1
c.3407delG	Heterozygous	p.Gly1136ValfsX2	1136	31	GGT	Fr.	del1b	Stop at 1137			Absent		K10-17-1-1	0	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.IVS31-33A>G (c.3443-33A>G)	Heterozygous		1148	31_32	TAT	Ts	spl-33	A->G				r.3443_3520del (exon 32 skippping)	CAN15-1-1-2	0	Female	Proband	ITALIA	LGMD2B	29
c.3444_3445delinsAA	Heterozygous		1148	31_32	TAT	indels	indels	indels			No data		F1-197-1-1	1	Male	Proband		unknown	81
c.3444_3445delinsAA	Heterozygous		1148	31_32	TAT	indels	indels	indels					UK2-48-1-0	0	Unknown	Proband		Miyoshi myopathy	54
c.3444T>A	Heterozygous	p.Tyr1148X	1148	31_32	TAT	Tv	TAA	T->A			No data		US32-27-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.3444T>A	Heterozygous	p.Tyr1148X	1148	31_32	TAT	Tv	TAA	T->A			No data		US32-28-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.3444_3445delinsAA	Heterozygous		1148	31_32	TAT	indels	indels	indels			Absent		US32-36-1-1	1	Male	Proband	U.S.A.	Miyoshi myopathy	77
c.3444_3445delinsAA	Heterozygous		1148	31_32	TAT	indels	indels	indels			Absent		US32-36-2-1	1	Male	Relative	U.S.A.	Miyoshi myopathy	77
c.3443-8_3443-7delinsAA	Homozygous	p.Tyr1148	1149	32	GGG	indels	indels	indels					IT9-2-1-1	1	Male	Proband	ITALIA	LGMD2B	23
c.3443-8_3443-7delinsAA	Heterozygous	p.Tyr1148	1149	32	GGG	indels	indels	indels					IT9-2-2-2	1	Female	Relative	ITALIA	LGMD2B	23
c.3477C>A	Heterozygous	p.Tyr1159X	1159	32	TAC	Tv	TAA	C->A	C2 Domain D				F1-38-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.3477C>A	Heterozygous	p.Tyr1159X	1159	32	TAC	Tv	TAA	C->A	C2 Domain D		Absent		F1-90-1-0	1	Unknown	Proband	FRANCE	Miyoshi myopathy	1
c.3478C>T	Homozygous	p.Gln1160X	1160	32	CAG	Ts	TAG	C->T	C2 Domain D		Absent		US26-19-1-1	1	Male	Proband		LGMD2B	58
c.3478C>T	Homozygous	p.Gln1160X	1160	32	CAG	Ts	TAG	C->T	C2 Domain D				USJP3-16-1-1	1	Male	Proband	MEXICO	Miyoshi myopathy	11
c.3478C>T	Homozygous	p.Gln1160X	1160	32	CAG	Ts	TAG	C->T	C2 Domain D				USJP3-16-2-2	1	Female	Relative	MEXICO	Miyoshi myopathy	11
c.3504dup	Heterozygous	p.Lys1169GlnfsX6	1168	32	GAC		ins1c	Stop at 1174	C2 Domain D	Calcium binding 1168	Absent	r.3504dupC	IT9-32-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.3506insC	Heterozygous	p.Lys1169ThrfsX6	1169	32	AAG	Fr.	ins1b	Stop at 1174	C2 Domain D		No data		US26-17-1-1	0	Male	Proband		Miyoshi myopathy	58
c.3516_3517delTT	Heterozygous	p.Ser1173X	1172	32	TTT	Fr.	del2c	Stop at 1173	C2 Domain D		Absent		F1-322-1-1	1	Male	Proband	CHINA (Han population)	LGMD2B	72
c.3516_3517delTT	Heterozygous	p.Ser1173X	1172	32	TTT	Fr.	del2c	Stop at 1173	C2 Domain D		Reduced		F1-35-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.3516_3517delTT	Heterozygous	p.Ser1173X	1172	32	TTT	Fr.	del2c	Stop at 1173	C2 Domain D				H20-1-1-2	0	Female	Proband	SURINAM	LGMD2B	42
c.3516_3517delTT	Heterozygous	p.Ser1173X	1172	32	TTT	Fr.	del2c	Stop at 1173	C2 Domain D		Absent	r.3516_3517del	IT9-63-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.3516_3517delTT	Heterozygous	p.Ser1173X	1172	32	TTT	Fr.	del2c	Stop at 1173	C2 Domain D		Absent		US26-12-1-2	0	Female	Proband		Miyoshi myopathy	58
c.3516_3517delTT	Heterozygous	p.Ser1173X	1172	32	TTT	Fr.	del2c	Stop at 1173	C2 Domain D		No data		US26-27-1-2	0	Female	Proband	U.S.A.	Miyoshi myopathy	66
c.3516_3517delTT	Heterozygous	p.Ser1173X	1172	32	TTT	Fr.	del2c	Stop at 1173	C2 Domain D		Absent		US26-12-2-1	0	Male	Relative		LGMD2B	58
c.3517dup	Heterozygous	p.Ser1173PhefsX2	1173	32	TCT	Fr.	ins1b	Stop at 1174	C2 Domain D		Absent		F1-187-1-1	1	Male	Proband	INDIA	Miyoshi myopathy	1
c.3517dup	Heterozygous	p.Ser1173PhefsX2	1173	32	TCT	Fr.	ins1b	Stop at 1174	C2 Domain D				UK2-30-1-0	0	Unknown	Proband		Miyoshi myopathy	54
c.3517dup	Homozygous	p.Ser1173PhefsX2	1173	32	TCT	Fr.	ins1b	Stop at 1174	C2 Domain D				UK2-41-1-0	1	Unknown	Proband		Miyoshi myopathy	54
c.3517dup	Heterozygous	p.Ser1173PhefsX2	1173	32	TCT	Fr.	ins1b	Stop at 1174	C2 Domain D		No data		US32-23-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.3601_3607del	Homozygous	p.Gln1201SerfsX58	1201	33	CAG	Fr.	del7a	Stop at 1258	C2 Domain D		Absent		CAN15-5-1-0	1	Unknown	Proband	ITALIA	LGMD2B	34
c.3601C>T	Homozygous	p.Gln1201X	1201	33	CAG	Ts	TAG	C->T	C2 Domain D		Absent		F1-299-1-1	1	Male	Proband	CHINA (Han population)	Miyoshi myopathy	72
c.3601C>T	Heterozygous	p.Gln1201X	1201	33	CAG	Ts	TAG	C->T	C2 Domain D		Absent		F1-308-1-1	0	Male	Proband	CHINA (Han population)	LGMD2B	72
c.3618C>T	Heterozygous	p.Tyr1206Tyr	1206	33	TAC	Ts	TAT	C->T	C2 Domain D		Absent		F1-322-1-1	0	Male	Proband	CHINA (Han population)	LGMD2B	72
c.3683T>C	Heterozygous	p.Leu1228Pro	1228	33	CTG	Ts	CCG	T->C	C2 Domain D		Absent		F1-71-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.3687C>A	Heterozygous	p.Tyr1229X	1229	33	TAC	Tv	TAA	C->A	C2 Domain D		Absent		F1-154-1-2	0	Female	Proband	FRANCE	LGMD2B	1
c.IVS33+1G>A (c.3702+1G>A)	Heterozygous		1234	33	TAT	Ts	spl+1	G->A			Absent	r.spl?	F1-19-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.IVS33+9G>T (c.3702+9G>T)	Heterozygous		1234	33	TAT		spl+9	G>T	C2 Domain D		Absent	r.spl?	US30-2-1-1	0	Male	Proband	CANADA (Caucasian)	Miyoshi myopathy	71
c.IVS33-1G>A (c.3703-1G>A)	Heterozygous		1235	34	GGT	Ts	spl-1	G->A			Absent	r.spl?	F1-21-1-2	1	Female	Proband	FRANCE	isolated hyperCKaemia	1
c.IVS33-1G>A (c.3703-1G>A)	Heterozygous		1235	34	GGT	Ts	spl-1	G->A			No data	r.spl?	F1-21-2-2	1	Female	Relative	FRANCE	isolated hyperCKaemia	1
c.3708delA	Homozygous	p.Asp1237ThrfsX24	1236	34	GCA	Fr.	del1c	Stop at 1260	C2 Domain D		No data		F1-233-1-1	1	Male	Proband	FRANCE	LGMD2B or Miyoshi myopathy	78
c.3721G>C	Heterozygous	p.Gly1241Arg	1241	34	GGT	Tv	CGT	G->C	C2 Domain D		Absent		AUS19-1-1-0	0	Unknown	Proband	AUSTRALIA	LGMD2B	40
c.3771G>A	Heterozygous	p.Trp1257X	1257	34	TGG	Ts	TGA	G->A			No data		JP28-11-1-1	0	Male	Proband	JAPAN	LGMD2B	69
c.3773delT	Homozygous	p.Phe1258SerfsX3	1258	34	TTC	Fr.	del1b	Stop at 1260					UK2-43-1-0	1	Unknown	Proband		LGMD2B	54
c.3805G>T	Heterozygous	p.Glu1269X	1269	34	GAG	Tv	TAG	G->T			Absent		S13-15-1-0	1	Unknown	Proband	SPAIN	LGMD2B	35
c.3805G>T	Homozygous	p.Glu1269X	1269	34	GAG	Tv	TAG	G->T			Absent		S13-18-1-0	1	Unknown	Proband	SPAIN	Miyoshi myopathy	35
c.3805G>T	Heterozygous	p.Glu1269X	1269	34	GAG	Tv	TAG	G->T			Absent	r.3805g>u	S13-21-1-0	1	Unknown	Proband	SPAIN	Miyoshi myopathy	35
c.3805G>T	Heterozygous	p.Glu1269X	1269	34	GAG	Tv	TAG	G->T			Reduced		S13-31-1-1	1	Male	Proband	SPAIN	LGMD2B	67
c.3805G>T	Heterozygous	p.Glu1269X	1269	34	GAG	Tv	TAG	G->T			Absent	r.3805g>u	S13-21-2-0	1	Unknown	Relative	SPAIN	Miyoshi myopathy	35
c.3832C>T	Heterozygous	p.Gln1278X	1278	34	CAG	Ts	TAG	C->T			Absent		F1-117-1-1	0	Male	Proband	FRANCE	Miyoshi myopathy	1
c.3832C>T	Heterozygous	p.Gln1278X	1278	34	CAG	Ts	TAG	C->T			Absent		F1-174-1-1	0	Male	Proband	U.S.A.	LGMD2B	1
c.3832C>T	Heterozygous	p.Gln1278X	1278	34	CAG	Ts	TAG	C->T			Reduced		F1-58-1-1	0	Male	Proband	FRANCE	LGMD2B	1
c.3832C>T	Homozygous	p.Gln1278X	1278	34	CAG	Ts	TAG	C->T			Absent		F1-67-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.3832C>T	Heterozygous	p.Gln1278X	1278	34	CAG	Ts	TAG	C->T					UK2-42-1-0	1	Unknown	Proband		Miyoshi myopathy	54
c.3832C>T	Heterozygous	p.Gln1278X	1278	34	CAG	Ts	TAG	C->T					F1-58-2-2	1	Female	Relative	FRANCE	myalgia	1
c.IVS34+1G>A (c.3843+1G>A)	Heterozygous		1281	34	AAG	Ts	spl+1	G->A				r.spl?	F1-130-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.IVS34+2T>A (c.3843+2T>A)	Heterozygous		1281	34	AAG	Tv	spl+2	T->A			Absent	r.spl?	US26-4-1-2	1	Female	Proband		LGMD2B	58
c.IVS34+1G>A (c.3843+1G>A)	Heterozygous		1281	34	AAG	Ts	spl+1	G->A			Absent	r.spl?	F1-130-2-2	1	Female	Relative	FRANCE	proximodistal	1
c.3863delC	Heterozygous	p.Pro1288LeufsX57	1288	35	CCT	Fr.	del1b	Stop at 1344			Absent		F1-326-1-1	1	Male	Proband	CHINA (Han population)	Miyoshi myopathy	72
c.3872_3877del	Heterozygous	p.Val1292_Gln1293del	1291	35	GAG	InF	del6b	In frame del			Absent		K10-5-1-2	1	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	LGMD2B	68
c.3892A>G	Heterozygous	p.Ile1298Val	1298	36	ATC	Ts	GTC	A->G			No data		F1-476-1-1	1	Male	Proband		LGMD2B or Miyoshi myopathy	81
c.3892A>G	Heterozygous	p.Ile1298Val	1298	36	ATC	Ts	GTC	A->G			No data		US26-22-1-1	1	Male	Proband	U.S.A.	LGMD2B	66
c.3892A>G	Heterozygous	p.Ile1298Val	1298	36	ATC	Ts	GTC	A->G			No data		US26-23-1-1	1	Male	Proband	U.S.A.	LGMD2B	66
c.3892A>G	Heterozygous	p.Ile1298Val	1298	36	ATC	Ts	GTC	A->G			Reduced		US26-3-1-1	1	Male	Proband		LGMD2B	58
c.3892A>G	Heterozygous	p.Ile1298Val	1298	36	ATC	Ts	GTC	A->G			Absent		US26-8-1-1	1	Male	Proband		LGMD2B	58
c.3892A>G	Heterozygous	p.Ile1298Val	1298	36	ATC	Ts	GTC	A->G					USJP3-6-1-0	1	Unknown	Proband	ITALIA	Miyoshi myopathy	8
c.3892A>G	Heterozygous	p.Ile1298Val	1298	36	ATC	Ts	GTC	A->G					USJP3-6-2-0	1	Unknown	Relative	ITALIA	LGMD2B	33
c.3892A>G	Heterozygous	p.Ile1298Val	1298	36	ATC	Ts	GTC	A->G					USJP3-6-3-0	1	Unknown	Relative	ITALIA	LGMD2B	33
c.3904_4333dup	Heterozygous	p.Asp1445ValfsX2	1302	37	TCT	Fr.	ins430a	Stop at 1446			Absent		F1-139-1-1	0	Male	Proband	BELGIUM	Miyoshi myopathy	55
c.3955insAT	Heterozygous	p.Tyr1319IlefsX27	1319	37	TAC		ins2a	Stop at 1345			Absent		C29-7-1-1	1	Male	Proband	CHINA	Miyoshi myopathy	70
c.3960insA	Heterozygous	p.Met1320IlefsX62	1320	37	ATG		ins1c	Stop at 1381			No data		JP28-12-1-2	0	Female	Proband	JAPAN	LGMD2B	69
c.3960insA	Homozygous	p.Met1320IlefsX62	1320	37	ATG		ins1c	Stop at 1381			No data		JP28-19-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.3960insA	Homozygous	p.Met1320IlefsX62	1320	37	ATG		ins1c	Stop at 1381			No data		JP28-22-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.3967C>T	Heterozygous	p.Gln1323X	1323	37	CAG	Ts	TAG	C->T			Absent		F1-163-1-1	0	Male	Proband	ALGERIA	LGMD2B	1
c.3967C>T	Heterozygous	p.Gln1323X	1323	37	CAG	Ts	TAG	C->T			Absent		S13-9-1-0	1	Unknown	Proband	SPAIN	LGMD2B	35
c.3988C>T	Heterozygous	p.Gln1330X	1330	37	CAG	Ts	TAG	C->T			Absent		F1-318-1-1	0	Male	Proband	CHINA (Han population)	exercise intolerance	72
c.3992G>T	Heterozygous	p.Arg1331Leu	1331	37	CGT	Tv	CTT	G->T			No data		F1-479-1-1	1	Male	Proband		LGMD2B or Miyoshi myopathy	81
c.3992G>T	Homozygous	p.Arg1331Leu	1331	37	CGT	Tv	CTT	G->T					UK2-29-1-0	1	Unknown	Proband		LGMD2B	54
c.3992G>T	Heterozygous	p.Arg1331Leu	1331	37	CGT	Tv	CTT	G->T					UK2-36-1-0	1	Unknown	Proband		Miyoshi myopathy	54
c.3992G>T	Heterozygous	p.Arg1331Leu	1331	37	CGT	Tv	CTT	G->T					UK2-48-1-0	1	Unknown	Proband		Miyoshi myopathy	54
c.3992G>T	Heterozygous	p.Arg1331Leu	1331	37	CGT	Tv	CTT	G->T			Absent		US21-5-1-1	1	Male	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	46
c.3992G>T	Heterozygous	p.Arg1331Leu	1331	37	CGT	Tv	CTT	G->T			Reduced		US26-10-1-1	0	Male	Proband		LGMD2B	58
c.3992G>T	Heterozygous	p.Arg1331Leu	1331	37	CGT	Tv	CTT	G->T			No data		US26-24-1-1	0	Male	Proband	U.S.A.	LGMD2B	66
c.IVS37+1G>A (c.4005+1G>A)	Heterozygous		1335	37	GAG	Ts	spl+1	G->A				r.spl?	F1-114-1-2	0	Female	Proband	FRANCE	LGMD2B	1
c.IVS37+1G>A (c.4005+1G>A)	Heterozygous		1335	37	GAG	Ts	spl+1	G->A			Absent	r.spl?	F1-40-1-2	0	Female	Proband	FRANCE	LGMD2B	1
c.4003G>A	Heterozygous	p.Glu1335Lys	1335	37	GAG	Ts	AAG	G->A	C2 Domain E				IT4-3-1-2	0	Female	Proband	ITALIA	LGMD2B	16
c.4004A>G	Heterozygous	p.Glu1335Gly	1335	37	GAG	Ts	GGG	A->G	C2 Domain E		No data		IT4-35-1-1	1	Male	Proband	ITALIA	LGMD2B	44
c.4003G>A	Heterozygous	p.Glu1335Lys	1335	37	GAG	Ts	AAG	G->A	C2 Domain E				IT9-5-1-2	1	Female	Proband	ITALIA	Miyoshi myopathy	23
c.4003G>A	Heterozygous	p.Glu1335Lys	1335	37	GAG	Ts	AAG	G->A	C2 Domain E		Reduced	r.4003G>A	IT9-59-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4003G>A	Heterozygous	p.Glu1335Lys	1335	37	GAG	Ts	AAG	G->A	C2 Domain E		Absent	r.4003G>A	IT9-62-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4003G>A	Heterozygous	p.Glu1335Lys	1335	37	GAG	Ts	AAG	G->A	C2 Domain E				IT9-7-1-1	1	Male	Proband	ITALIA	Miyoshi myopathy	23
c.4003G>A	Homozygous	p.Glu1335Lys	1335	37	GAG	Ts	AAG	G->A	C2 Domain E		Absent		S13-13-1-0	1	Unknown	Proband	SPAIN	Miyoshi myopathy	35
c.4003G>T	Heterozygous	p.Glu1335X	1335	37	GAG	Tv	TAG	G->T	C2 Domain E				USJP3-35-1-2	0	Female	Proband	JAPAN	Miyoshi myopathy	13
c.4003G>A	Heterozygous	p.Glu1335Lys	1335	37	GAG	Ts	AAG	G->A	C2 Domain E				IT4-3-2-2	0	Female	Relative	ITALIA	LGMD2B	16
c.4003G>T	Heterozygous	p.Glu1335X	1335	37	GAG	Tv	TAG	G->T	C2 Domain E				USJP3-35-2-1	0	Male	Relative	JAPAN	Miyoshi myopathy	13
c.4003G>T	Heterozygous	p.Glu1335X	1335	37	GAG	Tv	TAG	G->T	C2 Domain E				USJP3-35-3-1	0	Male	Relative	JAPAN	Miyoshi myopathy	13
c.4022T>C	Homozygous	p.Leu1341Pro	1341	38	CTG	Ts	CCG	T->C	C2 Domain E				G16-1-1-1	1	Male	Proband	SAUDI ARABIA	LGMD2B	30
c.4022T>C	Homozygous	p.Leu1341Pro	1341	38	CTG	Ts	CCG	T->C	C2 Domain E		Absent	r.4022U>C	IT9-40-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4022T>C	Homozygous	p.Leu1341Pro	1341	38	CTG	Ts	CCG	T->C	C2 Domain E				UK2-26-1-0	1	Unknown	Proband		LGMD2B	54
c.4022T>C	Homozygous	p.Leu1341Pro	1341	38	CTG	Ts	CCG	T->C	C2 Domain E				G16-1-2-1	1	Male	Relative	SAUDI ARABIA	LGMD2B	30
c.4022T>C	Homozygous	p.Leu1341Pro	1341	38	CTG	Ts	CCG	T->C	C2 Domain E				G16-1-3-1	1	Male	Relative	SAUDI ARABIA	LGMD2B	30
c.4022T>C	Homozygous	p.Leu1341Pro	1341	38	CTG	Ts	CCG	T->C	C2 Domain E				G16-1-4-1	1	Male	Relative	SAUDI ARABIA	LGMD2B	30
c.4022T>C	Homozygous	p.Leu1341Pro	1341	38	CTG	Ts	CCG	T->C	C2 Domain E				G16-1-5-1	1	Male	Relative	SAUDI ARABIA	LGMD2B	30
c.4022T>C	Homozygous	p.Leu1341Pro	1341	38	CTG	Ts	CCG	T->C	C2 Domain E		Absent	r.4022U>C	IT9-40-2-0	1	Unknown	Relative		LGMD2B or Miyoshi myopathy	64
c.4024C>T	Heterozygous	p.Arg1342Trp	1342	38	CGG	Ts	TGG	C->T	C2 Domain E		Absent		IT9-44-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4052delA	Homozygous	p.Asn1351ThrfsX9	1351	38	AAC	Fr.	del1b	Stop at 1359	C2 Domain E		No data		F1-335-1-2	1	Female	Proband	NETHERLAND	Miyoshi myopathy	74
c.4052A>G	Heterozygous	p.Asn1351Ser	1351	38	AAC	Ts	AGC	A->G	C2 Domain E		Absent		US30-2-1-1	1	Male	Proband	CANADA (Caucasian)	Miyoshi myopathy	71
c.4063insT	Heterozygous	p.Pro1355SerfsX27	1355	38	CCC	Fr.	ins1a	Stop at 1381	C2 Domain E		Absent		F1-306-1-1	0	Male	Proband	CHINA (Han population)	LGMD2B	72
c.4081T>C	Homozygous	p.Cys1361Arg	1361	38	TGT	Ts	CGT	T->C	C2 Domain E		Absent		F1-180-1-2	1	Female	Proband		LGMD2B	57
c.4081T>C	Homozygous	p.Cys1361Arg	1361	38	TGT	Ts	CGT	T->C	C2 Domain E		Absent		IT4-32-1-1	1	Male	Proband	ITALIA	LGMD2B	44
c.4081T>C	Heterozygous	p.Cys1361Arg	1361	38	TGT	Ts	CGT	T->C	C2 Domain E				IT9-3-1-2	1	Female	Proband	ITALIA	Miyoshi myopathy	23
c.4081T>C	Heterozygous	p.Cys1361Arg	1361	38	TGT	Ts	CGT	T->C	C2 Domain E		Reduced		IT9-30-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4090C>T	Heterozygous	p.Gln1364X	1364	38	CAG	Ts	TAG	C->T	C2 Domain E		Absent		US32-31-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.IVS38+1G>C (c.4167+1G>C)	Heterozygous		1389	38	GTG	Tv	spl+1	G->C				r.spl?	F1-118-1-2	1	Female	Proband	FRANCE	proximodistal	1
c.IVS38+1G>C (c.4167+1G>C)	Heterozygous		1389	38	GTG	Tv	spl+1	G->C			Absent	r.spl?	US21-9-1-2	0	Female	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	46
c.4191C>G	Heterozygous	p.Tyr1397X	1397	39	TAC	Tv	TAG	C->G	C2 Domain E				F1-55-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.4194C>A	Heterozygous	p.Cys1398X	1398	39	TGC	Tv	TGA	C->A	C2 Domain E		Absent		IT4-14-1-2	1	Female	Proband	ITALIA	LGMD2B	17
c.4194C>A	Homozygous	p.Cys1398X	1398	39	TGC	Tv	TGA	C->A	C2 Domain E		Absent		IT4-16-1-1	1	Male	Proband	ITALIA	isolated hyperCKaemia	17
c.4194C>A	Heterozygous	p.Cys1398X	1398	39	TGC	Tv	TGA	C->A	C2 Domain E		Absent		IT9-28-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4193insC	Heterozygous	p.Cys1398SerfsX11	1398	39	TGC	Fr.	ins1b	Stop at 1408	C2 Domain E		Absent		US21-1-1-2	0	Female	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	46
c.4194C>A	Heterozygous	p.Cys1398X	1398	39	TGC	Tv	TGA	C->A	C2 Domain E		Absent		IT9-28-2-0	0	Unknown	Relative		LGMD2B or Miyoshi myopathy	64
c.4199C>G	Heterozygous	p.Pro1400Arg	1400	39	CCC	Tv	CGC	C->G	C2 Domain E		Reduced		F1-409-1-1	1	Male	Proband		LGMD2B	81
c.4200delC	Homozygous	p.Ile1401SerfsX47	1400	39	CCC	Fr.	del1c	Stop at 1447	C2 Domain E		Absent		F1-84-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.4200dup	Homozygous	p.Ile1401HisfsX8	1401	39	ATC	Fr.	ins1a	Stop at 1408	C2 Domain E				F1-12-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.4200dup	Heterozygous	p.Ile1401HisfsX8	1401	39	ATC	Fr.	ins1a	Stop at 1408	C2 Domain E				F1-145-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.4200dup	Heterozygous	p.Ile1401HisfsX8	1401	39	ATC	Fr.	ins1a	Stop at 1408	C2 Domain E		Reduced		F1-183-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.4201dup	Homozygous	p.Ile1401AsnfsX8	1401	39	ATC	Fr.	ins1a	Stop at 1408	C2 Domain E		Absent		F1-44-1-2	1	Female	Proband	FRANCE	proximodistal	1
c.4200dup	Heterozygous	p.Ile1401HisfsX8	1401	39	ATC	Fr.	ins1a	Stop at 1408	C2 Domain E		Absent		F1-61-1-2	0	Female	Proband	FRANCE	LGMD2B	1
c.4200dup	Heterozygous	p.Ile1401HisfsX8	1401	39	ATC	Fr.	ins1a	Stop at 1408	C2 Domain E		Absent		F1-70-1-2	1	Female	Proband	FRANCE	pseudometabolic	1
c.4200dup	Heterozygous	p.Ile1401HisfsX8	1401	39	ATC	Fr.	ins1a	Stop at 1408	C2 Domain E		Absent		IT4-8-1-1	0	Male	Proband	ITALIA	Miyoshi myopathy	17
c.4200dup	Homozygous	p.Ile1401HisfsX8	1401	39	ATC	Fr.	ins1a	Stop at 1408	C2 Domain E		Reduced	r.4200dupC	IT9-55-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4200dup	Heterozygous	p.Ile1401HisfsX8	1401	39	ATC	Fr.	ins1a	Stop at 1408	C2 Domain E				K17-3-1-1	0	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	32
c.4200dup	Heterozygous	p.Ile1401HisfsX8	1401	39	ATC	Fr.	ins1a	Stop at 1408	C2 Domain E				UK2-32-1-0	1	Unknown	Proband		LGMD2B	54
c.4200dup	Heterozygous	p.Ile1401HisfsX8	1401	39	ATC	Fr.	ins1a	Stop at 1408	C2 Domain E				UK2-36-1-0	0	Unknown	Proband		Miyoshi myopathy	54
c.4200dup	Heterozygous	p.Ile1401HisfsX8	1401	39	ATC	Fr.	ins1a	Stop at 1408	C2 Domain E		Absent		US32-9-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.4253G>A	Homozygous	p.Gly1418Asp	1418	39	GGC	Ts	GAC	G->A	C2 Domain E		Reduced		M22-1-1-2	1	Female	Proband	MEXICO	LGMD2B	47
c.4253G>A	Heterozygous	p.Gly1418Asp	1418	39	GGC	Ts	GAC	G->A	C2 Domain E		Absent		US21-4-1-2	0	Female	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	46
c.4253G>A	Homozygous	p.Gly1418Asp	1418	39	GGC	Ts	GAC	G->A	C2 Domain E		No data		US32-22-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.4253G>A	Homozygous	p.Gly1418Asp	1418	39	GGC	Ts	GAC	G->A	C2 Domain E		No data		US32-25-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.4253G>A	Homozygous	p.Gly1418Asp	1418	39	GGC	Ts	GAC	G->A	C2 Domain E		No data		M22-1-2-2	1	Female	Relative	MEXICO	LGMD2B	47
c.4253G>A	Homozygous	p.Gly1418Asp	1418	39	GGC	Ts	GAC	G->A	C2 Domain E		No data		M22-1-3-2	1	Female	Relative	MEXICO	LGMD2B	47
c.4253G>A	Homozygous	p.Gly1418Asp	1418	39	GGC	Ts	GAC	G->A	C2 Domain E		No data		M22-1-4-2	1	Female	Relative	MEXICO	LGMD2B	47
c.4325delG	Heterozygous	p.Gly1442ValfsX6	1442	39	GGT	Fr.	del1b	Stop at 1447			Absent		F1-325-1-1	1	Male	Proband	CHINA (Han population)	LGMD2B	72
c.4354_4367del	Heterozygous	p.Pro1452AlafsX5	1452	40	CCT	Fr.	del14a	Stop at 1456			Reduced	r.4354_4367del	IT9-59-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4354C>A	Homozygous	p.Pro1452Thr	1452	40	CCT	Tv	ACT	C->A			Absent		S13-32-1-2	1	Female	Proband	SPAIN	LGMD2B	67
c.4390G>T	Heterozygous	p.Glu1464X	1464	40	GAG	Tv	TAG	G->T			Absent		CAN15-2-1-0	0	Unknown	Proband	ITALIA	LGMD2B	34
c.IVS40+13T>G (c.4410+13T>G)	Heterozygous		1470	40	CAG		spl+13	T>G			Absent	r.spl?	S13-30-1-1	0	Male	Proband	SPAIN	LGMD2B	67
c.IVS40-5C>G (c.4411-5C>G)	Heterozygous		1471	41	GAG	Tv	spl-5	C->G			Absent	r.spl?	UK2-23-1-2	0	Female	Proband	U.K.	trunc and lower limb girdle stiffness	48
c.IVS40-5C>G (c.4411-5C>G)	Heterozygous		1471	41	GAG	Tv	spl-5	C->G			No data	r.spl?	UK2-37-1-0	0	Unknown	Proband		stiffness after exercise	54
c.4433G>A	Heterozygous	p.Trp1478X	1478	41	TGG	Ts	TAG	G->A			Absent		F1-70-1-2	0	Female	Proband	FRANCE	pseudometabolic	1
c.4438delA	Heterozygous	p.Lys1480AsnfsX6	1480	41	AAA	Fr.	del1a	Stop at 1485			Absent	r.4438delA	IT9-35-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4480T>C	Heterozygous	p.Tyr1494His	1494	41	TAC	Ts	CAC	T->C			Reduced		IT9-48-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4497delT	Heterozygous	p.Phe1499LeufsX4	1499	41	TTT	Fr.	del1c	Stop at 1502			No data		JP28-17-1-1	0	Male	Proband	JAPAN	LGMD2B	69
c.4497delT	Heterozygous	p.Phe1499LeufsX4	1499	41	TTT	Fr.	del1c	Stop at 1502			No data		JP28-21-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.4497delT	Homozygous	p.Phe1499LeufsX4	1499	41	TTT	Fr.	del1c	Stop at 1502			No data		JP28-25-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.4497delT	Homozygous	p.Phe1499LeufsX4	1499	41	TTT	Fr.	del1c	Stop at 1502			No data		JP28-26-1-1	1	Male	Proband	JAPAN	LGMD2B	69
c.4497delT	Homozygous	p.Phe1499LeufsX4	1499	41	TTT	Fr.	del1c	Stop at 1502			No data		JP28-28-1-2	1	Female	Proband	JAPAN	LGMD2B	69
c.4497delT	Heterozygous	p.Phe1499LeufsX4	1499	41	TTT	Fr.	del1c	Stop at 1502			Absent		S13-9-1-0	0	Unknown	Proband	SPAIN	LGMD2B	35
c.4497delT	Heterozygous	p.Phe1499LeufsX4	1499	41	TTT	Fr.	del1c	Stop at 1502					USJP3-31-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	13
c.4497delT	Heterozygous	p.Phe1499LeufsX4	1499	41	TTT	Fr.	del1c	Stop at 1502					USJP3-38-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	13
c.4497delT	Homozygous	p.Phe1499LeufsX4	1499	41	TTT	Fr.	del1c	Stop at 1502					USJP3-40-1-2	1	Female	Proband	JAPAN	Miyoshi myopathy	13
c.4497delT	Heterozygous	p.Phe1499LeufsX4	1499	41	TTT	Fr.	del1c	Stop at 1502					USJP3-38-2-0	1	Unknown	Relative	JAPAN	Miyoshi myopathy	13
c.4497delT	Heterozygous	p.Phe1499LeufsX4	1499	41	TTT	Fr.	del1c	Stop at 1502					USJP3-38-3-0	1	Unknown	Relative	JAPAN	Miyoshi myopathy	13
c.4497delT	Heterozygous	p.Phe1499LeufsX4	1499	41	TTT	Fr.	del1c	Stop at 1502					USJP3-38-4-0	1	Unknown	Relative	JAPAN	Miyoshi myopathy	13
c.4497delT	Heterozygous	p.Phe1499LeufsX4	1499	41	TTT	Fr.	del1c	Stop at 1502					USJP3-38-5-0	1	Unknown	Relative	JAPAN	Miyoshi myopathy	13
c.4497delT	Heterozygous	p.Phe1499LeufsX4	1499	41	TTT	Fr.	del1c	Stop at 1502					USJP3-38-6-0	1	Unknown	Relative	JAPAN	Miyoshi myopathy	13
c.4497delT	Heterozygous	p.Phe1499LeufsX4	1499	41	TTT	Fr.	del1c	Stop at 1502					USJP3-38-7-0	1	Unknown	Relative	JAPAN	Miyoshi myopathy	13
c.4514A>G	Heterozygous	p.Tyr1505Cys	1505	42	TAT	Ts	TGT	A->G			Reduced		IT9-18-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4514A>G	Heterozygous	p.Tyr1505Cys	1505	42	TAT	Ts	TGT	A->G					IT9-4-1-2	1	Female	Proband	ITALIA	LGMD2B	23
c.4514A>G	Heterozygous	p.Tyr1505Cys	1505	42	TAT	Ts	TGT	A->G			Absent	r.4514A>G	IT9-61-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4514A>G	Heterozygous	p.Tyr1505Cys	1505	42	TAT	Ts	TGT	A->G			Reduced		IT9-18-2-0	0	Unknown	Relative		LGMD2B or Miyoshi myopathy	64
c.4577A>C	Homozygous	p.Lys1526Thr	1526	42	AAG	Tv	ACG	A->C			Absent		F1-47-1-2	0	Female	Proband	FRANCE	LGMD2B	1
c.4577A>C	Heterozygous	p.Lys1526Thr	1526	42	AAG	Tv	ACG	A->C			Absent		US26-1-1-1	0	Male	Proband		proximodistal	58
c.4577A>C	Heterozygous	p.Lys1526Thr	1526	42	AAG	Tv	ACG	A->C			No data		US26-20-1-1	0	Male	Proband	U.S.A.	proximodistal	66
c.4585C>T	Heterozygous	p.Arg1529Trp	1529	42	CGG	Ts	TGG	C->T			No data		IT4-38-1-2	1	Female	Proband	ITALIA	LGMD2B	44
c.4616_4619delCATC	Homozygous	p.Pro1539LeufsX2	1539	42	CCA	Fr.	del4b	Stop at 1540			No data		F1-225-2-1	1	Male	Relative		Miyoshi myopathy	0
c.4628G>A	Heterozygous	p.Gly1543Asp	1543	42	GGT	Ts	GAT	G->A			Absent		F1-151-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.4639G>C	Homozygous	p.Gly1547Arg	1547	43	GGC	Tv	CGC	G->C					F1-78-2-0	1	Male	Proband	NETHERLAND	Miyoshi myopathy	74
c.4639G>C	Homozygous	p.Gly1547Arg	1547	43	GGC	Tv	CGC	G->C			No data		F1-78-2-1	1	Male	Proband	NETHERLAND	Miyoshi myopathy	74
c.4639G>C	Homozygous	p.Gly1547Arg	1547	43	GGC	Tv	CGC	G->C			No data		F1-4-1-0	1	Male	Relative	NETHERLAND	Miyoshi myopathy	74
c.4639G>C	Homozygous	p.Gly1547Arg	1547	43	GGC	Tv	CGC	G->C					F1-4-1-0	0	Male	Relative	NETHERLAND	Miyoshi myopathy	74
c.4639G>C	Homozygous	p.Gly1547Arg	1547	43	GGC	Tv	CGC	G->C					F1-78-1-0	1	Male	Relative	NETHERLAND	Miyoshi myopathy	74
c.4639G>C	Homozygous	p.Gly1547Arg	1547	43	GGC	Tv	CGC	G->C			No data		F1-78-1-1	1	Male	Relative	NETHERLAND	Miyoshi myopathy	74
c.4684dup	Heterozygous	p.Met1562AsnfsX39	1562	43	ATG	Fr.	ins1b	Stop at 1600					UK2-40-1-0	0	Unknown	Proband		LGMD2B	54
c.4685dup	Homozygous	p.Met1562IlefsX39	1562	43	ATG	Fr.	ins1b	Stop at 1600			Absent		US26-11-1-2	1	Female	Proband		Miyoshi myopathy	58
c.4714dup	Heterozygous	p.Ala1572GlyfsX29	1572	43	GCC		ins1a	Stop at 1600			No data		F1-334-1-1	1	Male	Proband	NETHERLAND	Miyoshi myopathy	74
c.4720G>T	Heterozygous	p.Gly1574X	1574	43	GGA	Tv	TGA	G->T					USJP3-36-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	13
c.4731G>A	Heterozygous	p.Glu1577Glu	1577	43	GAG	Ts	GAA	G->A					G16-5-1-2	1	Female	Proband		unknown	43
c.4739T>A	Heterozygous	p.Val1580Asp	1580	43	GTC	Tv	GAC	T->A	C2 Domain F		Absent		F1-315-1-1	0	Male	Proband	CHINA (Han population)	Miyoshi myopathy	72
c.4741C>T	Heterozygous	p.Arg1581Cys	1581	43	CGT	Ts	TGT	C->T	C2 Domain F		Reduced	r.4741C>U	IT9-65-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4748_4750delinsT	Heterozygous	p.Tyr1583	1584	43	ATT	indels	indels	indels	C2 Domain F				USJP3-17-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	11
c.4748_4750delinsT	Heterozygous	p.Tyr1583	1584	43	ATT	indels	indels	indels	C2 Domain F				USJP3-26-1-1	0	Male	Proband	JAPAN	Miyoshi myopathy	13
c.4748_4750delinsT	Heterozygous	p.Tyr1583	1584	43	ATT	indels	indels	indels	C2 Domain F				USJP3-17-2-2	1	Female	Relative	JAPAN	Miyoshi myopathy	11
c.4756C>T	Heterozygous	p.Arg1586X	1586	43	CGA	Ts	TGA	C->T	C2 Domain F		No data		F1-333-1-1	1	Male	Proband	NETHERLAND	Miyoshi myopathy	74
c.4756C>T	Heterozygous	p.Arg1586X	1586	43	CGA	Ts	TGA	C->T	C2 Domain F		No data		F1-334-1-1	0	Male	Proband	NETHERLAND	Miyoshi myopathy	74
c.4756C>T	Heterozygous	p.Arg1586X	1586	43	CGA	Ts	TGA	C->T	C2 Domain F				F1-52-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.4756C>T	Heterozygous	p.Arg1586X	1586	43	CGA	Ts	TGA	C->T	C2 Domain F				G8-3-1-2	1	Female	Proband	GERMANY	Miyoshi myopathy	22
c.4756C>T	Homozygous	p.Arg1586X	1586	43	CGA	Ts	TGA	C->T	C2 Domain F				USJP3-18-1-2	1	Female	Proband	JAPAN	Miyoshi myopathy	11
c.4756C>T	Homozygous	p.Arg1586X	1586	43	CGA	Ts	TGA	C->T	C2 Domain F				USJP3-18-2-2	1	Female	Relative	JAPAN	Miyoshi myopathy	11
c.IVS43+1G>A (c.4794+1G>A)	Heterozygous		1598	43	AAG		spl+1	G>A	C2 Domain F		No data	r.spl?	JP28-35-1-2	0	Female	Proband	JAPAN	LGMD2B	69
c.4820T>C	Heterozygous	p.Ile1607Thr	1607	44	ATA	Ts	ACA	T->C	C2 Domain F		No data		F1-478-1-2	1	Female	Proband		LGMD2B or Miyoshi myopathy	81
c.4820T>C	Heterozygous	p.Ile1607Thr	1607	44	ATA	Ts	ACA	T->C	C2 Domain F		Reduced	r.4820U>C	IT9-65-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4854C>G	Heterozygous	p.Tyr1618X	1618	44	TAC	Tv	TAG	C->G	C2 Domain F		Absent		F1-404-1-2	0	Female	Proband		pseudometabolic	0
c.4872_4876delinsCCCC	Heterozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				CAN15-1-1-2	1	Female	Proband	ITALIA	LGMD2B	29
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				CAN15-1-3-2	1	Female	Proband	ITALIA	LGMD2B	29
c.4872_4876delinsCCCC	Heterozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F		Absent		F1-71-1-2	0	Female	Proband	FRANCE	LGMD2B	1
c.4872delG	Heterozygous	p.Glu1624AspfsX10	1624	44	GAG	Fr.	del1c	Stop at 1633	C2 Domain F				G8-2-1-2	0	Female	Proband	AUSTRIA	Miyoshi myopathy	22
c.4872_4876delinsCCCC	Heterozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F		Absent		IT4-20-1-1	1	Male	Proband	ITALIA	proximodistal	17
c.4872delG	Heterozygous	p.Glu1624AspfsX10	1624	44	GAG	Fr.	del1c	Stop at 1633	C2 Domain F		No data		IT9-17-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4872delG	Heterozygous	p.Glu1624AspfsX10	1624	44	GAG	Fr.	del1c	Stop at 1633	C2 Domain F				IT9-3-1-2	0	Female	Proband	ITALIA	Miyoshi myopathy	23
c.4872_4876delinsCCCC	Homozygous		1624	44	GAG	indels	indels	indels	C2 Domain F		Reduced		IT9-34-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-11-1-2	1	Female	Proband	Libyan jewish	Miyoshi myopathy	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-12-1-2	1	Female	Proband	Libyan jewish	Miyoshi myopathy	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-13-1-2	1	Female	Proband	Libyan jewish	LGMD2B	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-14-1-2	1	Female	Proband	Libyan jewish	Miyoshi myopathy	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-15-1-2	1	Female	Proband	Libyan jewish	Miyoshi myopathy	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-16-1-1	1	Male	Proband	Libyan jewish	LGMD2B	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-17-1-2	1	Female	Proband	Libyan jewish	Miyoshi myopathy	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-18-1-2	1	Female	Proband	Libyan jewish	Miyoshi myopathy	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-19-1-2	1	Female	Proband	Libyan jewish	Miyoshi myopathy	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-20-1-1	1	Male	Proband	Libyan jewish	LGMD2B	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-21-1-2	1	Female	Proband	Libyan jewish	LGMD2B	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-22-1-2	1	Female	Proband	Libyan jewish	unknown	6
c.4872delG	Homozygous	p.Glu1624AspfsX10	1624	44	GAG	Fr.	del1c	Stop at 1633	C2 Domain F		Reduced		UK2-9-1-0	1	Unknown	Proband	ISRAEL	LGMD2B	4
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				USJP3-19-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	11
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				CAN15-1-4-2	1	Female	Relative	ITALIA	LGMD2B	29
c.4872_4876delinsCCCC	Heterozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F		Absent		F1-163-2-2	0	Female	Relative	ALGERIA	proximodistal	1
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-11-2-2	1	Female	Relative	Libyan jewish	LGMD2B	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-11-3-2	1	Female	Relative	Libyan jewish	Miyoshi myopathy	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-11-4-2	1	Female	Relative	Libyan jewish	Miyoshi myopathy	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-11-5-2	1	Female	Relative	Libyan jewish	Miyoshi myopathy	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-12-2-1	1	Male	Relative	Libyan jewish	LGMD2B	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-12-3-1	1	Male	Relative	Libyan jewish	LGMD2B	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-12-4-1	1	Male	Relative	Libyan jewish	LGMD2B	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-12-5-2	1	Female	Relative	Libyan jewish	Miyoshi myopathy	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-12-6-1	1	Male	Relative	Libyan jewish	LGMD2B	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-13-2-1	1	Male	Relative	Libyan jewish	Miyoshi myopathy	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-13-3-1	1	Male	Relative	Libyan jewish	Miyoshi myopathy	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-15-2-1	1	Male	Relative	Libyan jewish	LGMD2B	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-16-2-2	1	Female	Relative	Libyan jewish	LGMD2B	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-18-2-2	1	Female	Relative	Libyan jewish	LGMD2B	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-18-3-2	1	Female	Relative	Libyan jewish	LGMD2B	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-19-2-2	1	Female	Relative	Libyan jewish	Miyoshi myopathy	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				UK2-19-3-2	1	Female	Relative	Libyan jewish	LGMD2B	6
c.4872_4876delinsCCCC	Homozygous	p.Glu1624	1624	44	GAG	indels	indels	indels	C2 Domain F				USJP3-19-2-2	1	Female	Relative	FRANCE	Miyoshi myopathy	11
c.4876delG	Heterozygous	p.Val1626TyrfsX8	1626	44	GTA	Fr.	del1a	Stop at 1633	C2 Domain F		Reduced		F1-74-1-2	0	Female	Proband	FRANCE	pseudometabolic	1
c.4882G>A	Homozygous	p.Gly1628Arg	1628	44	GGA	Ts	AGA	G->A	C2 Domain F		Absent		S13-37-1-1	1	Male	Proband	SPAIN	LGMD2B	67
c.4883G>T	Heterozygous	p.Gly1628Val	1628	44	GGA	Tv	GTA	G->T	C2 Domain F				UK2-53-1-0	0	Unknown	Proband		LGMD2B	54
c.IVS44+1249G>T (c.4886+1249G>T)	Heterozygous		1629	44_45	AAG		spl+1249	G>T	C2 Domain F		Absent		F1-263-1-2	0	Female	Proband		LGMD2B or Miyoshi myopathy	81
c.IVS44+2T>C (c.4886+2T>C)	Heterozygous		1629	44_45	AAG	Ts	spl+2	T->C	C2 Domain F		Absent	r.spl?	F1-304-1-1	0	Male	Proband	CHINA (Han population)	LGMD2B	72
c.IVS44+1249G>T (c.4886+1249G>T)	Heterozygous		1629	44_45	AAG	Tv	spl+1249	G->T	C2 Domain F		Reduced	r.4886_4887ins177	US32-26-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	77
c.IVS44+1249G>T (c.4886+1249G>T)	Heterozygous		1629	44_45	AAG	Tv	spl+1249	G->T	C2 Domain F		Absent	r.4886_4887ins177	US32-36-1-1	0	Male	Proband	U.S.A.	Miyoshi myopathy	77
c.IVS44+1249G>T (c.4886+1249G>T)	Heterozygous		1629	44_45	AAG	Tv	spl+1249	G->T	C2 Domain F		Absent	r.4886_4887ins177	US32-37-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	77
c.IVS44+1249G>T (c.4886+1249G>T)	Heterozygous		1629	44_45	AAG	Tv	spl+1249	G->T	C2 Domain F		Absent	r.4886_4887ins177	US32-36-2-1	0	Male	Relative	U.S.A.	Miyoshi myopathy	77
c.4894G>T	Heterozygous	p.Glu1632X	1632	45	GAG	Tv	TAG	G->T	C2 Domain F		Reduced		US32-7-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.4943A>G	Homozygous	p.Tyr1648Cys	1648	45	TAT	Ts	TGT	A->G	C2 Domain F		Absent		US21-21-1-1	1	Male	Proband		LGMD2B or Miyoshi myopathy	50
c.4969G>A	Heterozygous	p.Glu1657Lys	1657	45	GAA	Ts	AAA	G->A	C2 Domain F	Calcium binding 1657	Absent		S13-15-1-0	0	Unknown	Proband	SPAIN	LGMD2B	35
c.4968_4972dup	Heterozygous	p.Lys1658ThrfsX66	1658	45	AAG	Fr.	ins5b	Stop at 1723	C2 Domain F				UK2-24-1-0	0	Unknown	Proband		LGMD2B	54
c.4985C>G	Heterozygous	p.Thr1662Arg	1662	45	ACG	Tv	AGG	C->G	C2 Domain F				IT9-1-1-1	0	Male	Proband	ITALIA	Miyoshi myopathy	23
c.4985C>G	Heterozygous	p.Thr1662Arg	1662	45	ACG	Tv	AGG	C->G	C2 Domain F				IT9-1-2-2	0	Female	Relative	ITALIA	Miyoshi myopathy	23
c.5022delT	Heterozygous	p.Phe1674LeufsX48	1674	45	TTT	Fr.	del1c	Stop at 1721					G8-3-1-2	0	Female	Proband	GERMANY	Miyoshi myopathy	22
c.5032T>C	Heterozygous	p.Cys1678Arg	1678	45	TGT	Ts	CGT	T->C			Absent		F1-320-1-2	0	Female	Proband	CHINA (Han population)	exercise intolerance	72
c.5033G>C	Heterozygous	p.Cys1678Ser	1678	45	TGT	Tv	TCT	G->C			Reduced		IT4-18-1-2	0	Female	Proband	ITALIA	isolated hyperCKaemia	17
c.5033G>A	Homozygous	p.Cys1678Tyr	1678	45	TGT	Ts	TAT	G->A			Reduced		IT4-30-1-2	1	Female	Proband	ITALIA	LGMD2B	44
c.5036G>A	Heterozygous	p.Gly1679Glu	1679	45	GGA	Ts	GAA	G->A					USJP3-36-1-1	0	Male	Proband	JAPAN	Miyoshi myopathy	13
c.5038ins22	Homozygous	p.Leu1680SerfsX38	1680	45	CTC	Fr.	ins22a	Stop at 1717					UK2-2-1-0	1	Unknown	Proband	Palestinian arab	LGMD2B	2
c.5038ins22	Homozygous	p.Leu1680SerfsX38	1680	45	CTC	Fr.	ins22a	Stop at 1717					UK2-2-10-0	1	Unknown	Relative	Palestinian arab	LGMD2B	2
c.5038ins22	Homozygous	p.Leu1680SerfsX38	1680	45	CTC	Fr.	ins22a	Stop at 1717					UK2-2-2-0	1	Unknown	Relative	Palestinian arab	LGMD2B	2
c.5038ins22	Homozygous	p.Leu1680SerfsX38	1680	45	CTC	Fr.	ins22a	Stop at 1717					UK2-2-3-0	1	Unknown	Relative	Palestinian arab	LGMD2B	2
c.5038ins22	Homozygous	p.Leu1680SerfsX38	1680	45	CTC	Fr.	ins22a	Stop at 1717					UK2-2-4-0	1	Unknown	Relative	Palestinian arab	LGMD2B	2
c.5038ins22	Homozygous	p.Leu1680SerfsX38	1680	45	CTC	Fr.	ins22a	Stop at 1717					UK2-2-5-0	1	Unknown	Relative	Palestinian arab	LGMD2B	2
c.5038ins22	Homozygous	p.Leu1680SerfsX38	1680	45	CTC	Fr.	ins22a	Stop at 1717					UK2-2-6-0	1	Unknown	Relative	Palestinian arab	LGMD2B	2
c.5038ins22	Homozygous	p.Leu1680SerfsX38	1680	45	CTC	Fr.	ins22a	Stop at 1717					UK2-2-7-0	1	Unknown	Relative	Palestinian arab	LGMD2B	2
c.5038ins22	Homozygous	p.Leu1680SerfsX38	1680	45	CTC	Fr.	ins22a	Stop at 1717					UK2-2-8-0	1	Unknown	Relative	Palestinian arab	LGMD2B	2
c.5038ins22	Homozygous	p.Leu1680SerfsX38	1680	45	CTC	Fr.	ins22a	Stop at 1717					UK2-2-9-0	1	Unknown	Relative	Palestinian arab	LGMD2B	2
c.IVS45+1G>A (c.5057+1G>A)	Heterozygous		1686	45_46	GTC	Ts	spl+1	G->A			Absent	r.spl?	F1-307-1-2	0	Female	Proband	CHINA (Han population)	LGMD2B	72
c.IVS45+4delCGT (c.5057+4delCGT)	Homozygous		1686	45_46	GTC	Tv	spl+4	delCGT				r.?_5057del	IT4-1-1-2	1	Female	Proband	ITALIA	Miyoshi myopathy	16
c.IVS45+5G>A (c.5057+5G>A)	Homozygous		1686	45_46	GTC	Ts	spl+5	G->A				r.4979_5057del	UK2-10-1-1	1	Male	Proband	Yemenite jewish	LGMD2B	5
c.IVS45+5ins (c.5057+5ins)	Homozygous		1686	45_46	GTC	Tv	spl+5	ins			Reduced	r.spl?	UK2-7-1-0	1	Unknown	Proband	Palestinian	LGMD2B	4
c.IVS45+4delCGT (c.5057+4delCGT)	Homozygous		1686	45_46	GTC	Tv	spl+4	delCGT				r.?_5057del	IT4-1-2-2	1	Female	Relative	ITALIA	Miyoshi myopathy	16
c.IVS45+5G>A (c.5057+5G>A)	Homozygous		1686	45_46	GTC	Ts	spl+5	G->A				r.4979_5057del	UK2-10-2-1	1	Male	Relative	Yemenite jewish	Miyoshi myopathy	5
c.IVS45+5G>A (c.5057+5G>A)	Homozygous		1686	45_46	GTC	Ts	spl+5	G->A				r.4979_5057del	UK2-10-3-1	1	Male	Relative	Yemenite jewish	proximodistal	5
c.IVS45+5G>A (c.5057+5G>A)	Homozygous		1686	45_46	GTC	Ts	spl+5	G->A				r.4979_5057del	UK2-10-4-2	1	Female	Relative	Yemenite jewish	LGMD2B	5
c.IVS45+5G>A (c.5057+5G>A)	Homozygous		1686	45_46	GTC	Ts	spl+5	G->A				r.4979_5057del	UK2-10-5-2	1	Female	Relative	Yemenite jewish	LGMD2B	5
c.IVS45+5G>A (c.5057+5G>A)	Homozygous		1686	45_46	GTC	Ts	spl+5	G->A				r.4979_5057del	UK2-10-6-2	1	Female	Relative	Yemenite jewish	Miyoshi myopathy	5
c.5078G>A	Heterozygous	p.Arg1693Gln	1693	46	CGG	Ts	CAG	G->A					F1-116-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.5077C>T	Heterozygous	p.Arg1693Trp	1693	46	CGG	Ts	TGG	C->T			No data		F1-333-1-1	0	Male	Proband	NETHERLAND	Miyoshi myopathy	74
c.5077C>T	Homozygous	p.Arg1693Trp	1693	46	CGG	Ts	TGG	C->T			Absent		IT4-7-1-2	1	Female	Proband	ITALIA	Miyoshi myopathy	17
c.5077C>T	Homozygous	p.Arg1693Trp	1693	46	CGG	Ts	TGG	C->T			No data		IT4-7-2-2	1	Female	Relative	ITALIA	Miyoshi myopathy	17
c.5098delC	Heterozygous	p.Gln1700SerfsX22	1700	46	CAG	Fr.	del1a	Stop at 1721			Absent		F1-309-1-2	0	Female	Proband	CHINA (Han population)	LGMD2B	72
c.5149C>T	Heterozygous	p.Arg1717Trp	1717	46	CGG	Ts	TGG	C->T			Reduced	r.5149C>U	IT9-27-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.5159delG	Homozygous	p.Arg1720LeufsX2	1720	46	CGT	Fr.	del1b	Stop at 1721			Absent		S13-29-1-1	1	Male	Proband	SPAIN	Miyoshi myopathy	67
c.5159delG	Heterozygous	p.Arg1720LeufsX2	1720	46	CGT	Fr.	del1b	Stop at 1721			Absent		S13-33-1-2	1	Female	Proband	SPAIN	LGMD2B	67
c.5194G>T	Heterozygous	p.Glu1732X	1732	46	GAG	Tv	TAG	G->T			Absent		S13-4-1-0	1	Unknown	Proband	SPAIN	Miyoshi myopathy	35
c.5194G>C	Heterozygous	p.Glu1732Gln	1732	46	GAG	Tv	CAG	G->C			Reduced		US21-18-1-1	1	Male	Proband		LGMD2B or Miyoshi myopathy	50
c.5194G>T	Heterozygous	p.Glu1732X	1732	46	GAG	Tv	TAG	G->T					USJP3-20-1-0	1	Unknown	Proband	SPAIN	Miyoshi myopathy	11
c.IVS46+1G>A (c.5200+1G>A)	Heterozygous		1734	46_47	GAG	Ts	spl+1	G->A			Absent	r.spl?	IT4-14-1-2	0	Female	Proband	ITALIA	LGMD2B	17
c.IVS46+1G>A (c.5200+1G>A)	Homozygous		1734	46_47	GAG	Ts	spl+1	G->A			Absent	r.spl?	IT4-15-1-2	1	Female	Proband	ITALIA	LGMD2B	17
c.IVS46+1G>A (c.5200+1G>A)	Homozygous		1734	46_47	GAG		spl+1	G>A			Reduced	r.5201_5340del	IT9-13-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.5201A>G	Heterozygous	p.Glu1734Gly	1734	46_47	GAG	Ts	GGG	A->G			Absent		S13-27-1-1	0	Male	Proband	SPAIN	LGMD2B	37
c.IVS46+1G>A (c.5200+1G>A)	Homozygous		1734	46_47	GAG		spl+1	G>A			Reduced	r.5201_5340del	IT9-13-2-0	1	Unknown	Relative		LGMD2B or Miyoshi myopathy	64
c.5226C>T	Heterozygous	p.His1742His	1742	47	CAC	Ts	CAT	C->T			No data		JP28-39-1-1	0	Male	Proband	JAPAN	Miyoshi myopathy	61
c.5243A>T	Homozygous	p.Glu1748Val	1748	47	GAG	Tv	GTG	A->T			Absent		F1-18-1-2	0	Female	Proband	MAGHREB	proximodistal	1
c.5289G>C	Heterozygous	p.Glu1763Asp	1763	47	GAG	Tv	GAC	G->C			Reduced		S13-38-1-2	1	Female	Proband	SLOVENIA	LGMD2B	65
c.5289G>C	Heterozygous	p.Glu1763Asp	1763	47	GAG	Tv	GAC	G->C			Absent		S13-39-1-1	1	Male	Proband	SLOVENIA	Miyoshi myopathy	65
c.5296G>T	Homozygous	p.Glu1766X	1766	47	GAG	Tv	TAG	G->T			Absent		F1-18-1-2	1	Female	Proband	MAGHREB	proximodistal	1
c.5296G>A	Heterozygous	p.Glu1766Lys	1766	47	GAG	Ts	AAG	G->A			Absent		US32-31-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.5296G>A	Heterozygous	p.Glu1766Lys	1766	47	GAG	Ts	AAG	G->A			No data		US32-35-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.5302C>T	Heterozygous	p.Arg1768Trp	1768	47	CGG	Ts	TGG	C->T			Absent		CAN15-8-1-0	1	Unknown	Proband	ITALIA	LGMD2B	34
c.5302C>T	Heterozygous	p.Arg1768Trp	1768	47	CGG	Ts	TGG	C->T			Absent		F1-100-1-1	0	Male	Proband		proximodistal	1
c.5302C>T	Heterozygous	p.Arg1768Trp	1768	47	CGG	Ts	TGG	C->T			Reduced		F1-29-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.5302C>T	Heterozygous	p.Arg1768Trp	1768	47	CGG	Ts	TGG	C->T			Absent		F1-313-1-2	0	Female	Proband	CHINA (Han population)	Miyoshi myopathy	72
c.5302C>T	Heterozygous	p.Arg1768Trp	1768	47	CGG	Ts	TGG	C->T					H23-1-1-1	1	Male	Proband		unknown	49
c.5302C>T	Homozygous	p.Arg1768Trp	1768	47	CGG	Ts	TGG	C->T			Reduced		IT9-11-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.5302C>T	Heterozygous	p.Arg1768Trp	1768	47	CGG	Ts	TGG	C->T			Absent		S13-26-1-0	0	Unknown	Proband	SPAIN	Miyoshi myopathy	35
c.5302C>T	Heterozygous	p.Arg1768Trp	1768	47	CGG	Ts	TGG	C->T			Absent		F1-89-2-2	1	Female	Relative	FRANCE	Miyoshi myopathy	78
c.5302C>T	Homozygous	p.Arg1768Trp	1768	47	CGG	Ts	TGG	C->T			Reduced		IT9-11-2-0	1	Unknown	Relative		LGMD2B or Miyoshi myopathy	64
c.5302C>T	Homozygous	p.Arg1768Trp	1768	47	CGG	Ts	TGG	C->T			Reduced		IT9-11-3-0	1	Unknown	Relative		LGMD2B or Miyoshi myopathy	64
c.5302C>T	Homozygous	p.Arg1768Trp	1768	47	CGG	Ts	TGG	C->T			Reduced		IT9-11-4-0	1	Unknown	Relative		LGMD2B or Miyoshi myopathy	64
c.5302C>T	Heterozygous	p.Arg1768Trp	1768	47	CGG	Ts	TGG	C->T			Absent		S13-26-2-0	0	Unknown	Relative	SPAIN	Miyoshi myopathy	35
c.5314_5318delAGCCC	Heterozygous	p.Ser1772ProfsX54	1772	47	AGC	Fr.	del5a	Stop at 1825			Absent		F1-86-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.IVS47-1G>A (c.5341-1G>A)	Homozygous		1781	48	GGG	Ts	spl-1	G->A				r.spl?	UK2-47-1-0	0	Unknown	Proband		Miyoshi myopathy	54
c.5429G>A	Homozygous	p.Arg1810Lys	1810	48_49	AGG	Ts	AAG	G->A			Absent	r.5341_5429del (exon 48 skipping)	PO27-1-1-1	1	Male	Proband	PORTUGAL	LGMD2B	59
c.5429G>A	Homozygous	p.Arg1810Lys	1810	48_49	AGG	Ts	AAG	G->A			Absent	r.5341_5429del (exon 48 skipping)	PO27-2-1-1	1	Male	Proband	PORTUGAL	LGMD2B	59
c.5429G>A	Heterozygous	p.Arg1810Lys	1810	48_49	AGG	Ts	AAG	G->A			Reduced	r.5341_5429del (exon 48 skipping)	PO27-3-1-1	1	Male	Proband	PORTUGAL	LGMD2B	59
c.5429G>A	Homozygous	p.Arg1810Lys	1810	48_49	AGG	Ts	AAG	G->A			Absent	r.5341_5429del (exon 48 skipping)	PO27-4-1-1	1	Male	Proband	PORTUGAL	LGMD2B	59
c.5429G>A	Homozygous	p.Arg1810Lys	1810	48_49	AGG	Ts	AAG	G->A			No data	r.5341_5429del (exon 48 skipping)	PO27-5-1-1	1	Male	Proband	PORTUGAL	Miyoshi myopathy	59
c.5429G>A	Homozygous	p.Arg1810Lys	1810	48_49	AGG	Ts	AAG	G->A			Absent	r.5341_5429del (exon 48 skipping)	PO27-6-1-1	1	Male	Proband	PORTUGAL	LGMD2B	59
c.5429G>A	Homozygous	p.Arg1810Lys	1810	48_49	AGG	Ts	AAG	G->A			Absent	r.5341_5429del (exon 48 skipping)	PO27-7-1-1	1	Male	Proband	PORTUGAL	LGMD2B	59
c.IVS48-2A>G (c.5430-2A>G)	Heterozygous		1810	48_49	AGG	Ts	spl-2	A->G			Absent	r.spl?	US21-20-1-1	1	Male	Proband		LGMD2B or Miyoshi myopathy	50
c.5440C>T	Heterozygous	p.Arg1814Cys	1814	49	CGT	Ts	TGT	C->T	C2 domain G		Reduced		IT9-48-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.5441G>A	Heterozygous	p.Arg1814His	1814	49	CGT	Ts	CAT	G->A	C2 domain G		Absent		US32-15-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.5441G>A	Heterozygous	p.Arg1814His	1814	49	CGT	Ts	CAT	G->A	C2 domain G		No data	r.spl?	US32-19-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.5444G>T	Heterozygous	p.Cys1815Phe	1815	49	TGT	Tv	TTT	G->T	C2 domain G		Reduced		US26-9-1-1	0	Male	Proband		LGMD2B	58
c.5461A>T	Heterozygous	p.Arg1821X	1821	49	AGA	Tv	TGA	A->T	C2 domain G		Absent		F1-317-1-1	0	Male	Proband	CHINA (Han population)	Miyoshi myopathy	72
c.5497G>T	Heterozygous	p.Glu1833X	1833	49	GAG	Tv	TAG	G->T	C2 domain G		Absent		US26-5-1-1	1	Male	Proband		Miyoshi myopathy	58
c.5497G>T	Heterozygous	p.Glu1833X	1833	49	GAG	Tv	TAG	G->T	C2 domain G				USJP3-5-1-0	1	Unknown	Proband	U.K.	Miyoshi myopathy	8
c.5503A>G	Heterozygous	p.Met1835Val	1835	49	ATG	Ts	GTG	A->G	C2 domain G		No data		US32-34-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.5509G>A	Heterozygous	p.Asp1837Asn	1837	49	GAC	Ts	AAC	G->A	C2 domain G		Absent		F1-135-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.5509G>A	Heterozygous	p.Asp1837Asn	1837	49	GAC	Ts	AAC	G->A	C2 domain G		Absent		F1-19-1-1	0	Male	Proband	FRANCE	Miyoshi myopathy	1
c.5509G>A	Homozygous	p.Asp1837Asn	1837	49	GAC	Ts	AAC	G->A	C2 domain G		Reduced		IT4-17-1-1	1	Male	Proband	ITALIA	Miyoshi myopathy	17
c.5509G>A	Heterozygous	p.Asp1837Asn	1837	49	GAC	Ts	AAC	G->A	C2 domain G		Reduced	r.5509G>A	IT9-46-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.5509G>A	Homozygous	p.Asp1837Asn	1837	49	GAC	Ts	AAC	G->A	C2 domain G		Reduced	r.5509G>A	IT9-58-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.5509G>A	Homozygous	p.Asp1837Asn	1837	49	GAC	Ts	AAC	G->A	C2 domain G				JP7-1-1-2	1	Female	Proband	JAPAN	LGMD2B	21
c.5509G>A	Homozygous	p.Asp1837Asn	1837	49	GAC	Ts	AAC	G->A	C2 domain G				JP7-2-1-2	1	Female	Proband	JAPAN	Miyoshi myopathy	21
c.5509G>A	Heterozygous	p.Asp1837Asn	1837	49	GAC	Ts	AAC	G->A	C2 domain G		Absent		S13-17-1-0	1	Unknown	Proband	SPAIN	LGMD2B	35
c.5509G>A	Homozygous	p.Asp1837Asn	1837	49	GAC	Ts	AAC	G->A	C2 domain G		Absent		US26-6-1-1	1	Male	Proband		Miyoshi myopathy	58
c.5509G>A	Heterozygous	p.Asp1837Asn	1837	49	GAC	Ts	AAC	G->A	C2 domain G		Absent		US32-11-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.5509G>A	Heterozygous	p.Asp1837Asn	1837	49	GAC	Ts	AAC	G->A	C2 domain G		Absent		US32-9-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.5509G>T	Heterozygous	p.Asp1837Tyr	1837	49	GAC	Tv	TAC	G->T	C2 domain G				USJP3-12-1-0	0	Unknown	Proband	JAPAN	Miyoshi myopathy	10
c.5509G>A	Homozygous	p.Asp1837Asn	1837	49	GAC	Ts	AAC	G->A	C2 domain G				JP7-1-2-2	1	Female	Relative	JAPAN	LGMD2B	21
c.5509G>A	Homozygous	p.Asp1837Asn	1837	49	GAC	Ts	AAC	G->A	C2 domain G				JP7-1-3-2	1	Female	Relative	JAPAN	LGMD2B	21
c.5509G>A	Homozygous	p.Asp1837Asn	1837	49	GAC	Ts	AAC	G->A	C2 domain G				JP7-1-4-1	1	Male	Relative	JAPAN	LGMD2B	21
c.IVS49+3A>G (c.5525+3A>G)	Heterozygous		1842	49_50	GGT	Ts	spl+3	A->G				r.spl?	G14-1-1-1	1	Male	Proband	MACEDONIA	LGMD2B	28
c.IVS49+1G>A (c.5525+1G>A)	Homozygous		1842	49_50	GGT		spl+1	G>A	C2 domain G		Absent	r.5430_5525del (exon 49 skipping)	IT9-41-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.IVS49+3A>G (c.5525+3A>G)	Homozygous		1842	49_50	GGT	Ts	spl+3	A->G	C2 domain G		Absent	r.5430_5525del (exon 49 skipping)	S13-12-1-0	1	Unknown	Proband	SPAIN	LGMD2B	35
c.IVS49-1G>A (c.5526-1G>A)	Heterozygous		1842	49_50	GGT	Ts	spl-1	G->A			Absent	r.spl?	US26-13-1-1	0	Male	Proband		Miyoshi myopathy	58
c.5525G>A	Heterozygous	p.Gly1842Asp	1842	49_50	GGT	Ts	GAT	G->A	C2 domain G				USJP3-47-1-1	1	Male	Proband	JAPAN	Miyoshi myopathy	15
c.IVS49+3A>G (c.5525+3A>G)	Heterozygous		1842	49_50	GGT	Ts	spl+3	A->G				r.spl?	G14-1-2-2	1	Female	Relative	MACEDONIA	LGMD2B	28
c.5529G>A	Homozygous	p.Trp1843X	1843	50	TGG	Ts	TGA	G->A	C2 domain G		Absent		IT4-24-1-2	1	Female	Proband	ITALIA	LGMD2B	44
c.5563_5564delGA	Heterozygous	p.Asp1855ArgfsX9	1855	50	GAC	Fr.	del2a	Stop at 1863	C2 domain G	Calcium binding 1855	Absent		C29-4-1-1	0	Male	Proband	CHINA	Miyoshi myopathy	70
c.5563G>A	Heterozygous	p.Asp1855Asn	1855	50	GAC	Ts	AAC	G->A	C2 domain G	Calcium binding 1855	Reduced	r.5563G>A	IT9-27-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.5570A>C	Heterozygous	p.His1857Pro	1857	50	CAT	Tv	CCT	A->C	C2 domain G		Absent		F1-330-1-1	0	Male	Proband	CHINA (Han population)	LGMD2B	72
c.5570A>G	Heterozygous	p.His1857Arg	1857	50	CAT	Ts	CGT	A->G	C2 domain G				USJP3-7-1-0	1	Unknown	Proband	U.K.	Miyoshi myopathy	8
c.5572delT	Heterozygous	p.Tyr1858IlefsX108	1858	50	TAT	Fr.	del1a	Stop at 1965	C2 domain G		No data		IT4-12-1-1	0	Male	Proband	ITALIA	Miyoshi myopathy	17
c.5572delT	Heterozygous	p.Tyr1858IlefsX108	1858	50	TAT	Fr.	del1a	Stop at 1965	C2 domain G		Absent		IT9-16-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.5572delT	Heterozygous	p.Tyr1858IlefsX108	1858	50	TAT	Fr.	del1a	Stop at 1965	C2 domain G		Absent		IT4-12-2-1	0	Male	Relative	ITALIA	Miyoshi myopathy	17
c.5572delT	Heterozygous	p.Tyr1858IlefsX108	1858	50	TAT	Fr.	del1a	Stop at 1965	C2 domain G		Absent		IT9-16-2-0	0	Unknown	Relative		LGMD2B or Miyoshi myopathy	64
c.5594delG	Heterozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G				F1-125-1-0	1	Unknown	Proband	FRANCE	LGMD2B	1
c.5594delG	Homozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G				F1-138-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.5594delG	Heterozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G		Absent		F1-144-1-3	0	Male	Proband	NETHERLAND	Miyoshi myopathy	74
c.5594delG	Heterozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G				F1-144-1-3	0	Male	Proband	NETHERLAND	Miyoshi myopathy	74
c.5594delG	Heterozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G		Absent		F1-153-1-1	0	Male	Proband	FRANCE	proximodistal	1
c.5594delG	Heterozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G		Absent		F1-450-1-2	0	Female	Proband		Miyoshi myopathy	0
c.5594delG	Heterozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G				F1-65-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.5594delG	Homozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G		Absent		F1-91-1-1	1	Male	Proband	MOROCCO	proximodistal	1
c.5594delG	Homozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G		Absent		IT4-25-1-1	1	Male	Proband	ITALIA	LGMD2B	44
c.5594delG	Heterozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G		Reduced		PO27-3-1-1	0	Male	Proband	PORTUGAL	LGMD2B	59
c.5594delG	Homozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G		Absent		S13-35-1-2	1	Female	Proband	SPAIN	distal myopathy with anterior tibial onset (DMAT/DACM)	67
c.5594delG	Homozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G				USJP3-3-1-2	1	Female	Proband	SPAIN	DMAT	9
c.5594delG	Homozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G				USJP3-4-1-0	1	Unknown	Proband	SPAIN	Miyoshi myopathy	8
c.5594delG	Homozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G				F1-138-2-1	1	Male	Relative	FRANCE	Miyoshi myopathy	1
c.5594delG	Homozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G				F1-138-3-1	1	Unknown	Relative	FRANCE	Miyoshi myopathy	1
c.5594delG	Homozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G				F1-65-2-1	1	Male	Relative	FRANCE	Miyoshi myopathy	1
c.5594delG	Homozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G				F1-65-3-2	1	Female	Relative	FRANCE	Miyoshi myopathy	1
c.5594delG	Homozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G				USJP3-3-2-1	1	Male	Relative	SPAIN	DMAT	9
c.5594delG	Homozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G				USJP3-3-3-2	1	Female	Relative	SPAIN	DMAT	9
c.5594delG	Homozygous	p.Gly1865AlafsX101	1865	50	GGC	Fr.	del1b	Stop at 1965	C2 domain G				USJP3-3-4-2	1	Female	Relative	SPAIN	DMAT	9
c.5601C>A	Heterozygous	p.Phe1867Leu	1867	50	TTC	Tv	TTA	C->A	C2 domain G		Absent		F1-331-1-1	1	Male	Proband	URUGUAY	Miyoshi myopathy	62
c.5606G>A	Heterozygous	p.Trp1869X	1869	50	TGG	Ts	TAG	G->A	C2 domain G		Reduced		IT9-47-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.5612T>C	Homozygous	p.Phe1871Ser	1871	50	TTC	Ts	TCC	T->C	C2 domain G		Absent		AUS19-3-1-0	1	Unknown	Proband	AUSTRALIA	LGMD2B	40
c.5610dup	Heterozygous	p.Phe1871ValfsX11	1871	50	TTC	Fr.	ins1a	Stop at 1881	C2 domain G		Absent		K10-18-1-1	0	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.5626G>A	Heterozygous	p.Asp1876Asn	1876	50	GAC	Ts	AAC	G->A	C2 domain G		Absent		AUS19-4-1-0	0	Unknown	Proband	AUSTRALIA	LGMD2B	40
c.5626G>A	Homozygous	p.Asp1876Asn	1876	50	GAC	Ts	AAC	G->A	C2 domain G		Reduced		IT9-20-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.5670_5671delTG	Heterozygous	p.Ala1891LeufsX8	1890	51	GAT	Fr.	del2c	Stop at 1898	C2 domain G		Absent		C29-8-1-2	1	Female	Proband	CHINA	DMAT	70
c.IVS50-7G>A (c.5668-7G>A)	Heterozygous		1890	51	GAT	Ts	spl-7	G->A			Absent	r.spl?	F1-182-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.IVS50-7G>A (c.5668-7G>A)	Heterozygous		1890	51	GAT	Ts	spl-7	G->A	C2 domain G		Reduced	r.spl?	F1-314-1-1	1	Male	Proband	CHINA (Han population)	Miyoshi myopathy	72
c.IVS50-7G>A (c.5668-7G>A)	Homozygous		1890	51	GAT	Ts	spl-7	G->A			Absent	r.spl?	F1-8-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.IVS50-7G>A (c.5668-7G>A)	Heterozygous		1890	51	GAT	Ts	spl-7	G->A			Reduced	"[5668-5_5668-1ins;r.5668-7g>a]"	IT4-9-1-1	0	Male	Proband	ITALIA	LGMD2B	17
c.IVS50-7G>A (c.5668-7G>A)	Heterozygous		1890	51	GAT	Ts	spl-7	G->A				r.spl?	UK2-54-1-0	0	Unknown	Proband		LGMD2B	54
c.IVS50-7G>A (c.5668-7G>A)	Heterozygous		1890	51	GAT	Ts	spl-7	G->A			Absent	r.spl?	US26-15-1-1	1	Male	Proband		Miyoshi myopathy	58
c.IVS50-7G>A (c.5668-7G>A)	Heterozygous		1890	51	GAT		spl-7	G>A	C2 domain G		Absent	r.spl?	US32-2-1-0	1	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.5675delT	Homozygous	p.Phe1892SerfsX74	1892	51	TTC	Fr.	del1b	Stop at 1965	C2 domain G				USJP3-39-1-2	1	Female	Proband	JAPAN	Miyoshi myopathy	13
c.5698_5699delAG	Heterozygous	p.Ser1900GlnfsX14	1900	51	AGC	Fr.	del2a	Stop at 1913	C2 domain G		Absent		F1-139-1-1	1	Male	Proband	BELGIUM	Miyoshi myopathy	1
c.5698_5699delAG	Heterozygous	p.Ser1900GlnfsX14	1900	51	AGC	Fr.	del2a	Stop at 1913	C2 domain G				F1-139-1-1	0	Male	Proband	NETHERLAND	Miyoshi myopathy	74
c.5698_5699delAG	Heterozygous	p.Ser1900GlnfsX14	1900	51	AGC	Fr.	del2a	Stop at 1913	C2 domain G				UK2-35-1-0	1	Unknown	Proband		LGMD2B	54
c.5698_5699delAG	Heterozygous	p.Ser1900GlnfsX14	1900	51	AGC	Fr.	del2a	Stop at 1913	C2 domain G				UK2-50-1-0	1	Unknown	Proband		LGMD2B	54
c.5698_5699delAG	Heterozygous	p.Ser1900GlnfsX14	1900	51	AGC	Fr.	del2a	Stop at 1913	C2 domain G		Absent		US26-4-1-2	0	Female	Proband		LGMD2B	58
c.5698_5699delAG	Heterozygous	p.Ser1900GlnfsX14	1900	51	AGC	Fr.	del2a	Stop at 1913	C2 domain G		Absent		US32-4-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.5698_5699delAG	Heterozygous	p.Ser1900GlnfsX14	1900	51	AGC	Fr.	del2a	Stop at 1913	C2 domain G				USJP3-31-1-1	0	Male	Proband	JAPAN	Miyoshi myopathy	13
c.5698_5699delAG	Heterozygous	p.Ser1900GlnfsX14	1900	51	AGC	Fr.	del2a	Stop at 1913	C2 domain G				USJP3-8-1-0	1	Unknown	Proband	U.K.	Miyoshi myopathy	8
c.5698_5699delAG	Heterozygous	p.Ser1900GlnfsX14	1900	51	AGC	Fr.	del2a	Stop at 1913	C2 domain G				UK2-50-2-0	1	Unknown	Relative		LGMD2B	54
c.5713C>T	Heterozygous	p.Arg1905X	1905	51	CGA	Ts	TGA	C->T	C2 domain G		Absent		F1-187-1-1	0	Male	Proband	INDIA	Miyoshi myopathy	1
c.5713C>T	Heterozygous	p.Arg1905X	1905	51	CGA	Ts	TGA	C->T	C2 domain G		Absent		F1-30-1-2	1	Female	Proband	FRANCE	Miyoshi myopathy	1
c.5713C>T	Heterozygous	p.Arg1905X	1905	51	CGA	Ts	TGA	C->T	C2 domain G		Absent		F1-37-1-1	0	Male	Proband	FRANCE	Miyoshi myopathy	1
c.5713C>T	Heterozygous	p.Arg1905X	1905	51	CGA	Ts	TGA	C->T	C2 domain G		Absent		K10-2-1-1	0	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.5713C>T	Heterozygous	p.Arg1905X	1905	51	CGA	Ts	TGA	C->T	C2 domain G		Absent		K10-8-1-2	1	Female	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.5713C>T	Homozygous	p.Arg1905X	1905	51	CGA	Ts	TGA	C->T	C2 domain G				S13-1-1-0	1	Unknown	Proband	SPAIN	Miyoshi myopathy	27
c.5713C>T	Homozygous	p.Arg1905X	1905	51	CGA	Ts	TGA	C->T	C2 domain G				S13-2-1-0	1	Unknown	Proband	SPAIN	LGMD2B	27
c.5713C>T	Homozygous	p.Arg1905X	1905	51	CGA	Ts	TGA	C->T	C2 domain G				S13-3-1-0	1	Unknown	Proband	SPAIN	DMAT	27
c.5713C>T	Homozygous	p.Arg1905X	1905	51	CGA	Ts	TGA	C->T	C2 domain G		Absent		S13-6-1-0	1	Unknown	Proband	SPAIN	Miyoshi myopathy	35
c.5713C>T	Heterozygous	p.Arg1905X	1905	51	CGA	Ts	TGA	C->T	C2 domain G		Absent		US26-16-1-2	0	Female	Proband		LGMD2B	58
c.5713C>T	Heterozygous	p.Arg1905X	1905	51	CGA	Ts	TGA	C->T	C2 domain G		No data		US26-28-1-2	0	Female	Proband	U.S.A.	LGMD2B	66
c.5713C>T	Heterozygous	p.Arg1905X	1905	51	CGA	Ts	TGA	C->T	C2 domain G		No data		US32-10-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.5713C>T	Heterozygous	p.Arg1905X	1905	51	CGA	Ts	TGA	C->T	C2 domain G		No data		US32-23-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.5713C>T	Heterozygous	p.Arg1905X	1905	51	CGA	Ts	TGA	C->T	C2 domain G		Absent		US32-8-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.5713C>T	Homozygous	p.Arg1905X	1905	51	CGA	Ts	TGA	C->T	C2 domain G		Absent		S13-6-2-0	1	Unknown	Relative	SPAIN	Miyoshi myopathy	35
c.5729T>A	Heterozygous	p.Ile1910Asn	1910	51	ATC	Tv	AAC	T->A	C2 domain G		Absent		F1-301-1-2	0	Female	Proband	CHINA (Han population)	DMAT	72
c.5765T>C	Heterozygous	p.Leu1922Pro	1922	51	CTG	Ts	CCG	T->C	C2 domain G				USJP3-47-1-1	0	Male	Proband	JAPAN	Miyoshi myopathy	15
c.IVS51+1G>A (c.5767+1G>A)	Homozygous		1923	51_52	GGC	Ts	spl+1	G->A			Absent	r.spl?	F1-148-1-1	1	Male	Proband	FRANCE	LGMD2B	1
c.5768_5946del	Heterozygous	p.Ser1924GlnfsX13	1923	51_52	GGC	Fr.	del179b	Stop at 1936	C2 domain G		Absent		F1-205-1-1	0	Male	Proband	U.S.A.	Miyoshi myopathy	55
c.IVS51+6C>T (c.5767+6C>T)	Heterozygous		1923	51_52	GGC	Ts	spl+6	C->T	C2 domain G		Reduced	r.spl?	F1-323-1-1	0	Male	Proband	CHINA (Han population)	isolated hyperCKaemia	72
c.5768_5946del	Heterozygous	p.Ser1924GlnfsX13	1923	51_52	GGC	Fr.	del179b	Stop at 1936	C2 domain G		Absent		US32-2-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.5782_5785dup	Heterozygous	p.Leu1929ArgfsX22	1929	52	CTC	Fr.	ins4b	Stop at 1950					USJP3-27-1-1	0	Male	Proband	JAPAN	Miyoshi myopathy	13
c.5805delA	Homozygous	p.Ala1936ProfsX30	1935	52	CCA	Fr.	del1c	Stop at 1965			Reduced		F1-156-1-2	1	Female	Proband	BELGIUM	Miyoshi myopathy	1
c.5813_5821del	Heterozygous	p.Thr1938_Lys1940del	1938	52	ACA	InF	del9b	In frame del			Absent		F1-13-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.5813_5821del	Heterozygous	p.Thr1938_Lys1940del	1938	52	ACA	InF	del9b	In frame del			Reduced		IT4-26-1-1	0	Male	Proband	ITALIA	LGMD2B	44
c.5813_5821del	Heterozygous	p.Thr1938_Lys1940del	1938	52	ACA	InF	del9b	In frame del			Absent	r.5813_5821del	IT9-25-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.5813_5821del	Heterozygous	p.Thr1938_Lys1940del	1938	52	ACA	InF	del9b	In frame del			Reduced	r.5813_5821del	IT9-26-1-0	0	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.5813_5821del	Heterozygous	p.Thr1938_Lys1940del	1938	52	ACA	InF	del9b	In frame del			No data		IT4-26-2-1	0	Male	Relative	ITALIA	LGMD2B	44
c.5813_5821del	Heterozygous	p.Thr1938_Lys1940del	1938	52	ACA	InF	del9b	In frame del			Absent	r.5813_5821del	IT9-25-2-0	1	Unknown	Relative		LGMD2B or Miyoshi myopathy	64
c.5826C>A	Heterozygous	p.Cys1942X	1942	52	TGC	Tv	TGA	C->A			Absent		C35-3-1-2	1	Female	Proband	CHINA	LGMD2B	80
c.5824T>G	Heterozygous	p.Cys1942Gly	1942	52	TGC	Tv	GGC	T->G			Absent		IT4-13-1-1	0	Male	Proband	ITALIA	Miyoshi myopathy	17
c.5835_5838delCCAG	Heterozygous	p.Gln1946TrpfsX19	1945	52	GAC	Fr.	del4c	Stop at 1964					UK2-44-1-0	1	Unknown	Proband		LGMD2B	54
c.5835_5838delCCAG	Homozygous	p.Gln1946TrpfsX19	1945	52	GAC	Fr.	del4c	Stop at 1964			Absent		US21-10-1-1	1	Male	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	46
c.5835_5838delCCAG	Heterozygous	p.Gln1946TrpfsX19	1945	52	GAC	Fr.	del4c	Stop at 1964					UK2-44-2-0	1	Unknown	Relative		LGMD2B	54
c.5836_5839delCAGC	Heterozygous	p.Gln1946TrpfsX19	1946	52	CAG	Fr.	del4a	Stop at 1964					UK2-29-1-0	0	Unknown	Proband		LGMD2B	54
c.5836_5839delCAGC	Heterozygous	p.Gln1946TrpfsX19	1946	52	CAG	Fr.	del4a	Stop at 1964			Absent		US26-2-1-1	0	Male	Proband		Miyoshi myopathy	58
c.5836_5839delCAGC	Heterozygous	p.Gln1946TrpfsX19	1946	52	CAG	Fr.	del4a	Stop at 1964			No data		US26-21-1-1	0	Male	Proband	U.S.A.	Miyoshi myopathy	66
c.5836_5839delCAGC	Heterozygous	p.Gln1946TrpfsX19	1946	52	CAG	Fr.	del4a	Stop at 1964			Reduced		US30-1-1-2	1	Female	Proband	CANADA (Caucasian)	Miyoshi myopathy	71
c.5871_5872delGT	Heterozygous	p.Ser1958ProfsX3	1957	52	GTG	Fr.	del2c	Stop at 1960			Absent		F1-179-1-1	1	Male	Proband	FRANCE	isolated hyperCKaemia	1
c.5871_5872delGT	Heterozygous	p.Ser1958ProfsX3	1957	52	GTG	Fr.	del2c	Stop at 1960					UK2-45-1-0	1	Unknown	Proband		LGMD2B	54
c.5884C>T	Heterozygous	p.Gln1962X	1962	52	CAG	Ts	TAG	C->T			Reduced		US26-14-1-1	0	Male	Proband		Miyoshi myopathy	58
c.5884C>T	Heterozygous	p.Gln1962X	1962	52	CAG	Ts	TAG	C->T			No data		US26-25-1-1	0	Male	Proband	U.S.A.	Miyoshi myopathy	66
c.5884C>T	Heterozygous	p.Gln1962X	1962	52	CAG	Ts	TAG	C->T			No data		US26-14-2-1	0	Male	Relative		Miyoshi myopathy	58
c.5899G>A	Homozygous	p.Gly1967Ser	1967	52	GGC	Ts	AGC	G->A			Reduced		F1-413-1-1	1	Male	Proband		Miyoshi myopathy	0
c.5903G>A	Heterozygous	p.Trp1968X	1968	52	TGG	Ts	TAG	G->A			Absent		F1-50-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.5903G>A	Heterozygous	p.Trp1968X	1968	52	TGG	Ts	TAG	G->A			Absent		F1-82-1-1	1	Male	Proband	FRANCE	pseudometabolic	1
c.5903G>A	Heterozygous	p.Trp1968X	1968	52	TGG	Ts	TAG	G->A			Absent		S13-17-1-0	0	Unknown	Proband	SPAIN	LGMD2B	35
c.5903G>A	Heterozygous	p.Trp1968X	1968	52	TGG	Ts	TAG	G->A					F1-82-2-2	1	Female	Relative	FRANCE	LGMD2B	1
c.5908C>T	Heterozygous	p.Pro1970Ser	1970	52	CCC	Ts	TCC	C->T			Absent		F1-182-1-2	0	Female	Proband	FRANCE	LGMD2B	1
c.5908C>T	Heterozygous	p.Pro1970Ser	1970	52	CCC	Ts	TCC	C->T			Reduced		UK2-55-1-2	1	Female	Proband	IRELAND	LGMD2B	63
c.5939T>A	Heterozygous	p.Ile1980Lys	1980	52	ATA	Tv	AAA	T->A			Absent		K10-19-1-1	1	Male	Proband	REPUBLIC OF KOREA (SOUTH KOREA)	Miyoshi myopathy	68
c.IVS52+1G>A (c.5946+1G>A)	Heterozygous		1982	52	GCG	Ts	spl+1	G->A			Absent	r.spl?	US26-5-1-1	0	Male	Proband		Miyoshi myopathy	58
c.IVS52+1G>A (c.5946+1G>A)	Heterozygous		1982	52	GCG	Ts	spl+1	G->A				r.spl?	USJP3-5-1-0	0	Unknown	Proband	U.K.	Miyoshi myopathy	8
c.5979dup	Heterozygous	p.Glu1994ArgfsX3	1993	53	GCA	Fr.	ins1c	Stop at 1996			Absent		AUS19-2-1-0	1	Unknown	Proband	AUSTRALIA	LGMD2B	40
c.5979dup	Heterozygous	p.Glu1994ArgfsX3	1993	53	GCA	Fr.	ins1c	Stop at 1996			Absent		F1-155-1-2	1	Female	Proband	FRANCE	unknown	1
c.5979dup	Heterozygous	p.Glu1994ArgfsX3	1993	53	GCA		ins1c	Stop at 1996			Absent		F1-291-1-1	1	Male	Proband		LGMD2B	81
c.5979dup	Heterozygous	p.Glu1994ArgfsX3	1993	53	GCA	Fr.	ins1c	Stop at 1996					F1-38-1-2	0	Female	Proband	FRANCE	Miyoshi myopathy	1
c.5979dup	Heterozygous	p.Glu1994ArgfsX3	1993	53	GCA		ins1c	Stop at 1996			No data		PO27-10-1-1	1	Male	Proband	PORTUGAL	proximodistal	62
c.5979dup	Heterozygous	p.Glu1994ArgfsX3	1993	53	GCA		ins1c	Stop at 1996			Absent		S13-33-1-2	0	Female	Proband	SPAIN	LGMD2B	67
c.5979dup	Heterozygous	p.Glu1994ArgfsX3	1993	53	GCA		ins1c	Stop at 1996			Reduced		S13-36-1-2	1	Female	Proband	SPAIN	Miyoshi myopathy	67
c.5979dup	Heterozygous	p.Glu1994ArgfsX3	1993	53	GCA		ins1c	Stop at 1996			No data		US32-24-1-0	0	Unknown	Proband	U.S.A.	LGMD2B or Miyoshi myopathy	75
c.5979dup	Heterozygous	p.Glu1994ArgfsX3	1994	53	GAG	Fr.	ins1a	Stop at 1996			Absent		F1-100-1-1	1	Male	Proband		proximodistal	1
c.5979dup	Homozygous	p.Glu1994ArgfsX3	1994	53	GAG	Fr.	ins1a	Stop at 1996			Absent		F1-9-1-2	1	Female	Proband	FRANCE	LGMD2B	1
c.5979dup	Heterozygous	p.Glu1994ArgfsX3	1994	53	GAG	Fr.	ins1a	Stop at 1996					IT4-2-1-1	0	Male	Proband	ITALIA	LGMD2B	16
c.5979dup	Homozygous	p.Glu1994ArgfsX3	1994	53	GAG	Fr.	ins1a	Stop at 1996			Absent		S13-10-1-0	1	Unknown	Proband	SPAIN	LGMD2B	35
c.5979dup	Homozygous	p.Glu1994ArgfsX3	1994	53	GAG	Fr.	ins1a	Stop at 1996					S13-16-1-0	1	Unknown	Proband	SPAIN	LGMD2B	35
c.5979dup	Homozygous	p.Glu1994ArgfsX3	1994	53	GAG	Fr.	ins1a	Stop at 1996			Absent		S13-8-1-0	1	Unknown	Proband	SPAIN	Miyoshi myopathy	35
c.5979dup	Heterozygous	p.Glu1994ArgfsX3	1994	53	GAG	Fr.	ins1a	Stop at 1996					UK2-40-1-0	1	Unknown	Proband		LGMD2B	54
c.5979dup	Heterozygous	p.Glu1994ArgfsX3	1994	53	GAG	Fr.	ins1a	Stop at 1996					UK2-42-1-0	0	Unknown	Proband		Miyoshi myopathy	54
c.5979dup	Heterozygous	p.Glu1994ArgfsX3	1994	53	GAG	Fr.	ins1a	Stop at 1996			Absent		UK2-6-1-0	0	Unknown	Proband	U.K.	LGMD2B	4
c.5979dup	Heterozygous	p.Glu1994ArgfsX3	1994	53	GAG	Fr.	ins1a	Stop at 1996					IT4-2-2-1	0	Male	Relative	ITALIA	LGMD2B	16
c.5979dup	Homozygous	p.Glu1994ArgfsX3	1994	53	GAG	Fr.	ins1a	Stop at 1996			Absent		S13-10-2-0	1	Unknown	Relative	SPAIN	LGMD2B	35
c.5979dup	Homozygous	p.Glu1994ArgfsX3	1994	53	GAG	Fr.	ins1a	Stop at 1996			Absent		S13-8-2-0	1	Unknown	Relative	SPAIN	Miyoshi myopathy	35
c.5999G>A	Heterozygous	p.Arg2000Gln	2000	53	CGG	Ts	CAG	G->A			Absent		S13-4-1-0	0	Unknown	Proband	SPAIN	Miyoshi myopathy	35
c.5999G>A	Heterozygous	p.Arg2000Gln	2000	53	CGG	Ts	CAG	G->A					USJP3-20-1-0	0	Unknown	Proband	SPAIN	Miyoshi myopathy	11
c.6059delG	Homozygous	p.Arg2020ProfsX16	2020	54	CGC	Fr.	del1b	Stop at 2035					C11-1-1-1	1	Male	Proband	CHINA	Miyoshi myopathy	25
c.6059delG	Homozygous	p.Arg2020ProfsX16	2020	54	CGC	Fr.	del1b	Stop at 2035					C11-1-2-1	1	Male	Relative	CHINA	Miyoshi myopathy	25
c.6059delG	Homozygous	p.Arg2020ProfsX16	2020	54	CGC	Fr.	del1b	Stop at 2035					C11-1-3-1	1	Male	Relative	CHINA	Miyoshi myopathy	25
c.6124C>T	Heterozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T			Reduced		CAN15-7-1-0	1	Unknown	Proband	ITALIA	LGMD2B	34
c.6124C>T	Heterozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T			Reduced		F1-150-1-2	0	Female	Proband	ITALIA	proximodistal	1
c.6124C>T	Heterozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T			Absent		F1-241-1-1	1	Male	Proband	INDIA	DMAT	51
c.6124C>T	Heterozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T			Reduced		F1-314-1-1	0	Male	Proband	CHINA (Han population)	Miyoshi myopathy	72
c.6124C>T	Heterozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T			Reduced		F1-332-1-1	0	Male	Proband	NETHERLAND	Miyoshi myopathy	74
c.6124C>T	Heterozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T					F1-73-1-1	1	Male	Proband	FRANCE	Miyoshi myopathy	1
c.6124C>T	Heterozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T			Absent		IT4-20-1-1	0	Male	Proband	ITALIA	proximodistal	17
c.6124C>T	Homozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T			Reduced		IT9-15-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.6124C>T	Heterozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T			Absent		PL33-1-1-2	1	Female	Proband	POLAND	LGMD2B	76
c.6124C>T	Heterozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T			Reduced		S13-36-1-2	0	Female	Proband	SPAIN	Miyoshi myopathy	67
c.6124C>T	Heterozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T			Reduced		US21-16-1-1	1	Male	Proband		LGMD2B or Miyoshi myopathy	50
c.6124C>T	Heterozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T			Reduced		US21-22-1-1	1	Male	Proband		LGMD2B or Miyoshi myopathy	50
c.6124C>T	Heterozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T					USJP3-6-1-0	0	Unknown	Proband	ITALIA	Miyoshi myopathy	8
c.6124C>T	Heterozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T					F1-150-2-2	0	Female	Relative	FRANCE	LGMD2B	1
c.6124C>T	Heterozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T					USJP3-6-2-0	0	Unknown	Relative	ITALIA	LGMD2B	33
c.6124C>T	Heterozygous	p.Arg2042Cys	2042	54	CGT	Ts	TGT	C->T					USJP3-6-3-0	0	Unknown	Relative	ITALIA	LGMD2B	33
c.6135G>A	Heterozygous	p.Trp2045X	2045	54	TGG	Ts	TGA	G->A	Transmembrane domain		No data		JP28-33-1-1	0	Male	Proband	JAPAN	LGMD2B	69
c.6142_6153dup	Heterozygous	p.Ile2048_Ile2052dup	2052	54	ATC	Fr.	ins12a	In frame ins	Transmembrane domain		No data		IT4-39-1-2	1	Female	Proband	ITALIA	LGMD2B	44
c.6196G>A	Homozygous	p.Ala2066Thr	2066	54	GCC	Ts	ACC	G->A	Transmembrane domain		Reduced	r.6196G>A	IT9-51-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64
c.6203C>T	Heterozygous	p.Pro2068Leu	2068	54	CCG	Ts	CTG	C->T					C12-2-1-1	0	Male	Proband	CHINA	Miyoshi myopathy	26
c.6205_6243del	Homozygous	p.Asn2069fsX138	2069	55	AAC	InF	del39a	Stop at 2206			Reduced		F1-181-1-1	1	Male	Proband		LGMD2B	55
c.6217A>G	Heterozygous	p.Met2073Val	2073	55	ATG	Ts	GTG	A->G			Reduced		G16-4-1-2	0	Female	Proband	CAUCASIAN	LGMD2B	36
c.6233_6240del	Homozygous	p.Pro2078fsX8	2078	55	CCC	Fr.	del8b	Stop at 2085			Reduced		IT9-33-1-0	1	Unknown	Proband		LGMD2B or Miyoshi myopathy	64