The UMD-MEN1 mutations database
Missense mutations (478 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Met1?	c.1A>C	2	1	Ju, NM, RP		Small rearrangement	Tv	A->C	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1805 02-FO18-V09R-982 Female Heterozygous CAUSAL W2049 15 1806 02-FO18-Y15L-955 Female Heterozygous CAUSAL W2049 15
p.Met1?	c.1A>G	2	1	Ju, NM, RP		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1801 02-FA21-G05O-958 Male Heterozygous CAUSAL 15
p.Met1?	c.1A>T	2	1	Ju, NM, RP		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 379 03-DU16-E18I-963 Male Heterozygous CAUSAL 0
p.Ala6Ala	c.18C>T	2	6	Ju, NM, RP		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1931 04-LA21-J05-981 Female LIKELY NEUTRAL 0
p.Thr9Ala	c.25A>G	2	9	Ju, NM, RP		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1864 04-RO21-A12A-965 Male Heterozygous UV 0
p.Leu13Arg	c.38T>G	2	13	Ju, NM, RP		Small rearrangement	Tv	T->G	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 256 03-BL15-S01N-972 Female Heterozygous LIKELY CAUSAL W1040 0 380 03-CO18-J05S-988 Female Heterozygous LIKELY CAUSAL W2002 0 393 03-CO18-M01R-964 Male Heterozygous LIKELY CAUSAL W2002 0 1366 01-ET09-A14N-945 Female Heterozygous LIKELY CAUSAL 0
p.Arg14Cys	c.40C>T	2	14	Ju, NM, RP		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1983 04-PI03-C05-981 Female UV 0
p.Arg21Ser	c.61C>A	2	21	Ju, NM, RP		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1858 02-SR09-S21G-981 Female Heterozygous LIKELY NEUTRAL 0
p.Arg21Cys	c.61C>T	2	21	Ju, NM, RP		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1952 04-PO07-M01R-969 Female UV 0
p.Leu22Pro	c.65T>C	2	22	Ju, NM, RP		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 2 04-CH01-C08R-970 Male Heterozygous LIKELY CAUSAL 0
p.Leu22Arg	c.65T>G	2	22	Ju, NM, RP		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1 04-AU07-F01N-979 Female Heterozygous LIKELY CAUSAL 2
p.Glu26Lys	c.76G>A	2	26	Ju, NM, RP		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 5 04-DA25-M09C-947 Male Heterozygous LIKELY CAUSAL W1074 4
p.Leu27Pro	c.80T>C	2	27	Ju, NM, RP		Small rearrangement	Ts	T->C	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 6 04-LA21-P01U-954 Male Heterozygous CAUSAL W2062 0 7 04-LA21-N09C-986 Male Heterozygous CAUSAL W2062 0 8 04-LA21-A21D-978 Female Heterozygous CAUSAL W2062 0 348 03-DE12-G08I-952 Female Heterozygous CAUSAL W1034 0 349 03-BE03-M09C-954 Male Heterozygous CAUSAL W1034 0 404 03-BE03-S20E-980 Female Heterozygous CAUSAL W1034 0 1865 04-BE18-L09S-952 Female Heterozygous CAUSAL W2062 0
p.Ser38Cys	c.113C>G	2	38	Ju, NM, RP		Small rearrangement	Tv	C->G	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 331 03-NA26-K01T-988 Female Heterozygous UV W225 0 418 03-NA26-A14D-957 Male Heterozygous UV W225 0 1953 05-JU19-C05L-982 Female LIKELY CAUSAL 0
p.Ser38Phe	c.113C>T	2	38	Ju, NM, RP		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1479 01-DO21-L21C-939 Female Heterozygous LIKELY CAUSAL 0
p.Leu39Trp	c.116T>G	2	39	Ju, NM, RP		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 337 03-BR21-A14E-952 Female Heterozygous CAUSAL W125 9
p.Leu41Leu	c.121C>T	2	41	Sm, NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1935 04-CO19-M01-945 Female NEUTRAL 0
p.Gly42Cys	c.124G>T	2	42	Sm, NM		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 10 04-SI12-B18I-996 Male Heterozygous LIKELY CAUSAL W1103 0 240 03-SI12-A18M-968 Female Heterozygous LIKELY CAUSAL W1103 0
p.Gly42Val	c.125G>T	2	42	Sm, NM		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 427 03-AV09-S05V-986 Female Heterozygous LIKELY CAUSAL 0
p.Glu45Lys	c.133G>A	2	45	Sm, NM		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 11 04-LA14-T08I-966 Male Heterozygous LIKELY CAUSAL W1085 36 1659 02-LA14-J05A-954 Male Heterozygous LIKELY CAUSAL W1085 36 1660 02-LA14-K05V-991 Male Heterozygous LIKELY CAUSAL W1085 36
p.Glu45Gly	c.134A>G	2	45	Sm, NM		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1669 02-DE13-K01D-985 Female Heterozygous CAUSAL 37
p.His46Arg	c.137A>G	2	46	Sm, NM		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1863 04-LA06-V05R-979 Female Heterozygous UV 0
p.Leu48Pro	c.143T>C	2	48	Sm, NM		Small rearrangement	Ts	T->C	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 244 03-PE19-J15H-975 Male Heterozygous LIKELY CAUSAL W1081 0 245 03-PE19-D05N-939 Female Heterozygous LIKELY CAUSAL W1081 0 246 03-PE19-P18I-987 Female Heterozygous LIKELY CAUSAL W1081 0
p.Ala49Pro	c.145G>C	2	49	Sm, NM		Small rearrangement	Tv	G->C	9
UMD_id Sample ID Gender Mutation status Variation class Family ID References 284 03-LE02-O12I-960 Male Heterozygous CAUSAL W43 0 285 03-AN17-J01C-934 Female Heterozygous CAUSAL W43 0 332 03--LE02-F18A-959 Male Heterozygous CAUSAL W43 0 333 03-LE02-B18I-935 Female Heterozygous CAUSAL W43 0 395 03-LE02-T08I-987 Male Heterozygous CAUSAL W43 0 399 03-CA22-S20E-967 Male Heterozygous CAUSAL W43 0 401 03-AN17-A12E-978 Male Heterozygous CAUSAL W43 0 1624 02-LE02-A21R-985 Female Heterozygous CAUSAL W43 0 1625 02-LE02-A14A-989 Female Heterozygous CAUSAL W43 0
p.Ala87Thr	c.259G>A	2	87	Sm, NM		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1703 02-DA22-G01E-978 Female Heterozygous UV 0
p.Tyr106Cys	c.317A>G	2	106	Sm, NM		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1955 01-VA12-V05-969 Female LIKELY CAUSAL W2021-7 0
p.Glu109Asp	c.327A>T	2	109	Sm, NM		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1616 02-RO07-P01S-954 Male Heterozygous UV 0
p.Val118Gly	c.353T>G	2	118	Sm, NM		Small rearrangement	Tv	T->G	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 382 03-GR15-Y22E-966 Male Heterozygous UV W2048 0 392 03-BO09-V05R-975 Female Heterozygous UV 0 406 03-SC01-K01R-974 Female Heterozygous UV W2048 0
p.Lys120Asn	c.360G>T	2	120	Sm, NM		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1969 01-CH01-K05-982 Male UV 0
p.His139Asn	c.415C>A	2	139	Ju, Sm, NM		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1564 02-PE19-D15M-957 Female Heterozygous LIKELY CAUSAL 0
p.His139Tyr	c.415C>T	2	139	Ju, Sm, NM		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 36 04-LE22-C01R-969 Female Heterozygous UV w2052 2 37 04-MA09-C01N-975 Female Heterozygous UV w2052 2 383 03-LE22-J15R-992 Male Heterozygous UV W2052 2 384 03-LE22-V09N-004 Male Heterozygous UV W2052 2
p.Leu143Pro	c.428T>C	2	143	Ju, Sm, NM		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 257 03-MA21-C12A-951 Female Heterozygous LIKELY CAUSAL W1039 0
p.Phe144Cys	c.431T>G	2	144	Ju, Sm, NM		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 325 03-NU14-J15S-968 Male Heterozygous LIKELY CAUSAL W154 3 326 03-MA18-A14N-936 Female Heterozygous LIKELY CAUSAL W154 3
p.Ser145Ile	c.434G>T	2	145	Ju, Sm,NM,HD		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1706 02-KA18-M01R-969 Female Heterozygous LIKELY CAUSAL 0
p.Ser145Arg	c.435C>A	2	145	Ju, Sm,NM,HD		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 297 03-CH01-J05A-961 Male Heterozygous LIKELY CAUSAL W1056 0
p.Ser145Arg	c.435C>G	2	145	Ju, Sm,NM,HD		Small rearrangement	Tv	C->G	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 388 03-DE02-A14T-992 Male Heterozygous LIKELY CAUSAL W2007 20 390 03-DE02-A12I-994 Female Heterozygous LIKELY CAUSAL W2007 20 1827 02-PI18-C01R-982 Female Heterozygous LIKELY CAUSAL W2025 20 1828 02-PI18-M01R-955 Female Heterozygous LIKELY CAUSAL W2025 20
p.Ser145Ser	c.435C>T	2	145	Ju, Sm,NM,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1845 000-000-0000 Polymorphism 0
p.Leu152Trp	c.455T>G	3	152	Ju, Sm,NM,HD		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 450 03-ME20-J15S-957 Female Heterozygous LIKELY CAUSAL W1086 22
p.Asp153Glu	c.459C>G	3	153	Ju, Sm,NM,HD		Small rearrangement	Tv	C->G	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 444 03-PA19-S05B-996 Female Heterozygous CAUSAL W245 0 445 03-PA19-C08R-975 Male Heterozygous CAUSAL W245 0 446 03-PA19-N09C-963 Female Heterozygous CAUSAL W245 0 447 03-PA19-M01R-951 Female Heterozygous CAUSAL W245 0 448 03-PA19-M01R-948 Male Heterozygous CAUSAL W245 0 449 03-PA19-M01R-926 Female Heterozygous CAUSAL W245 0
p.Ser154Ile	c.461G>T	3	154	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1956 03-DI13-S20-971 Female CAUSAL 0
p.Gly156Arg	c.466G>C	3	156	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1318 01-BO21-A14N-975 Female Heterozygous CAUSAL W1146 38
p.Gly156Cys	c.466G>T	3	156	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	G->T	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 40 04-CH01-M21R-954 Female Heterozygous LIKELY CAUSAL 39 468 03-PA20-S20E-968 Female Heterozygous LIKELY CAUSAL W180 39 487 03-LA21-F12A-973 Male Heterozygous LIKELY CAUSAL W180 39 489 03-DA22-A12E-978 Female Heterozygous LIKELY CAUSAL W122 39 518 03-DE03-M21R-984 Female Heterozygous LIKELY CAUSAL 39
p.Gly156Asp	c.467G>A	3	156	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 461 03-DI01-C12A-990 Female Heterozygous CAUSAL W184 3 462 03-DI01-M01L-992 Male Heterozygous CAUSAL W184 3 467 03-DI01-O21L-964 Female Heterozygous CAUSAL W184 3
p.Gly156Val	c.467G>T	3	156	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 451 03-GA09-I19A-964 Male Heterozygous LIKELY CAUSAL W1075 0 452 03-GA09-A14T-988 Male Heterozygous LIKELY CAUSAL W1075 0
p.Val162Phe	c.484G>T	3	162	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 473 03-MO09-F18A-957 Male Heterozygous UV W123 9 1984 04-ME18-A14-987 Female LIKELY CAUSAL 0
p.Ala164Asp	c.491C>A	3	164	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 517 03-DE01-V05R-987 Female Heterozygous LIKELY CAUSAL 9
p.Ala164Val	c.491C>T	3	164	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1667 02-MA14-B05N-951 Male Heterozygous LIKELY CAUSAL 0
p.Cys165Arg	c.493T>C	3	165	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	T->C	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 41 04-FL05-G09L-963 Male Heterozygous LIKELY CAUSAL W101 3 480 03-CO12-R01P-971 Male Heterozygous LIKELY CAUSAL W1021 14 501 03-CO12-G21I-000 Male Heterozygous LIKELY CAUSAL W1021 9
p.Cys165Trp	c.495C>G	3	165	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 42 04-OU08-N01D-975 Female Heterozygous LIKELY CAUSAL 0
p.Arg171Gln	c.512G>A	3	171	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1504 02-MI18-N01D-946 Female Heterozygous NEUTRAL 0 1846 NEUTRAL 0
p.Asp172Tyr	c.514G>T	3	172	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 481 03-CO12-M01R-953 Female Heterozygous CAUSAL W1020 3
p.Asp172Val	c.515A>T	3	172	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1423 01-PA12-M09R-951 Female Heterozygous CAUSAL W268 41 1424 01-PA12-E12I-949 Female Heterozygous CAUSAL W268 41
p.Leu175Pro	c.524T>C	3	175	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1928 01-PR01-P01-978 Female LIKELY CAUSAL 0
p.Leu175Leu	c.525C>T	3	175	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1859 03-ISR-ELK-000 Unknown Heterozygous LIKELY NEUTRAL 0
p.Ala176Pro	c.526G>C	3	176	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1288 01-AL01-J05R-969 Male Heterozygous UV 2
p.Ser178Phe	c.533C>T	3	178	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 520 03-OU22-E20I-995 Male Heterozygous UV 0
p.Glu179Lys	c.535G>A	3	179	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1849 03-CH01-D10E-940 Female Heterozygous CAUSAL W1014 40
p.His181Asp	c.541C>G	3	181	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	C->G	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 441 03-GU09-G09N-949 Female Heterozygous UV W271 0 510 03-GO21-T08O-997 Male Heterozygous UV W271 0 511 03-GO21-V09N-994 Male Heterozygous UV W271 0 522 03-GO21-K01T-970 Female Heterozygous UV W271 0
p.Trp183Ser	c.548G>C	3	183	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1306 02-BE18-N01D-990 Female Heterozygous CAUSAL 6
p.Trp183Cys	c.549G>C	3	183	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 43 04-EL11-M15R-978 Male Heterozygous CAUSAL 42
p.Gly187Val	c.560G>T	3	187	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 504 03-EL11-K08A-955 Female Heterozygous UV 0 1979 01-EL11-K08-955 Female UV W2023-1 0
p.Pro188Leu	c.563C>T	3	188	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 508 03-DU18-D26E-970 Male Heterozygous UV 0
p.Thr193Thr	c.579A>T	3	193	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1970 04-LE07-L05-018 Female LIKELY NEUTRAL 0
p.Glu195Gly	c.584A>G	3	195	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	A->G	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 46 04-CA19-A18L-933 Female Heterozygous LIKELY CAUSAL W61 44 47 04-CA19-Y22-950 Male Heterozygous LIKELY CAUSAL W61 44 488 03-CA19-J01C-964 Male Heterozygous LIKELY CAUSAL W61 44 498 03-CA19-G21Y-938 Male Heterozygous LIKELY CAUSAL W61 44 506 03-MA07-T08I-959 Male Heterozygous LIKELY CAUSAL W61 44
p.Thr197Ile	c.590C>T	3	197	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1937 04-CA19-L05-000 Female UV 0
p.Thr197Thr	c.591C>T	3	197	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1938 04-ME03-S25-976 Female NEUTRAL 0
p.His199His	c.597C>T	3	199	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	18
UMD_id Sample ID Gender Mutation status Variation class Family ID References 49 04-DU18-G09L-948 Female Heterozygous UV W1001 0 50 04-IS19-A08M-981 Male Heterozygous UV 0 51 04-SE22-BI12A-940 Female Heterozygous UV 0 52 04-TU18-JA19-995 Male Heterozygous UV W2096 0 53 04-TU18-S20A-995 Female Heterozygous UV W2096 0 55 04-TU18-J05A-972 Male Heterozygous UV W2096 0 456 03-FR01-Y22E-945 Female Heterozygous UV W1001 0 457 03-MO14-M15N-947 Female Heterozygous UV W1001 0 458 03-DU18-G09L-948 Female Heterozygous UV W1001 0 500 03-TE18-S05B-969 Male Heterozygous UV W2008 0 507 03-BO14-V05R-962 Female Heterozygous UV W2008 0 514 03-VE12-J01C-974 Male Heterozygous UV W223 0 523 03-VE12-E18I-965 Male Heterozygous UV W223 0 524 03-VE12-D01N-964 Male Heterozygous UV W223 0 525 03-VE12-J05A-970 Male Heterozygous UV W223 0 528 03-SO15-J01C-934 Female Heterozygous UV W223 0 1599 02-DU18-A21R-977 Female Heterozygous UV W1001 0 1656 02-TE07-M01R-962 Female Heterozygous UV 0
p.Gly200Gly	c.600C>T	3	200	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1898 03-ISR-2-1-970 Unknown LIKELY CAUSAL 0
p.Asn203Asn	c.609C>T	3	203	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1875 04-PE19-J05A-933 Female Heterozygous LIKELY NEUTRAL 0
p.Arg206Arg	c.618C>A	3	206	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 56 04-BA21-C08R-979 Female Heterozygous LIKELY NEUTRAL W2065 0 1873 04-BA21-R21B-011 Female Heterozygous LIKELY NEUTRAL W2065 0
p.Thr210Ile	c.629C>T	3	210	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1876 04-PE19-J05A-933 Female Heterozygous UV 0
p.Thr210Thr	c.630A>G	3	210	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1911 01-WA18-C01R-973 Female Heterozygous UV W2057 0 1912 03-WA18-N01D-945 Female Heterozygous UV W2057 0
p.Gly214Ser	c.640G>A	3	214	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 72 04-GA18-V01L-971 Female Heterozygous UV 0 1850 01-BU20-S01N-971 Female Heterozygous UV 0 1939 04-GA18-V01-971 Female UV 0
p.Arg218Trp	c.652C>T	3	218	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 73 04-GI18-V09O-983 Female Heterozygous LIKELY CAUSAL W2067 0 1940 04-GI18-V01-983 Female UV 0 1971 04-GI18-V09-983 Female LIKELY CAUSAL 0 1874 04-PA25-C12E-010 Male Heterozygous LIKELY CAUSAL W2067 0
p.Arg218Arg	c.654G>T	3	218	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	G->T	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 483 03-BA16-J05R-979 Male Heterozygous CAUSAL W66 15 484 03-BA16-R15S-959 Female Heterozygous CAUSAL W66 15 492 03-BA16-A18M-950 Male Heterozygous CAUSAL W66 15 493 03-BA16-J15S-954 Male Heterozygous CAUSAL W66 15 494 03-BA16-G01B-956 Male Heterozygous CAUSAL W66 15
p.Trp220Arg	c.658T>C	4	220	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1958 03-BO21-S01-972 Female LIKELY CAUSAL 0
p.Leu221Pro	c.662T>C	4	221	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	T->C	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 613 03-ST21-E13M-984 Male Heterozygous UV W272 0 614 03-ST21-D15N-979 Female Heterozygous UV W272 0 616 03-ST21-J01C-943 Male Heterozygous UV W272 0 617 03-ST21-C01R-976 Female Heterozygous UV W272 0 1580 02-GU05-S15P-961 Female Heterozygous UV 0
p.Leu223Pro	c.668T>C	4	223	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	T->C	13
UMD_id Sample ID Gender Mutation status Variation class Family ID References 86 04-BI12-P01T-981 Female Heterozygous CAUSAL W249 7 563 03-BI12-J05A-950 Male Heterozygous CAUSAL W249 7 566 03-BR01-V05R-XXX Female Heterozygous CAUSAL W173 7 567 03-CH01-S01N-991 Female Heterozygous CAUSAL W58 7 571 03-BR01-J01C-950 Female Heterozygous CAUSAL W173 7 572 03-PH09-S09M-940 Female Heterozygous CAUSAL W100 7 574 03-MA07-E13I-944 Female Heterozygous CAUSAL W100 7 578 03-BE25-R05N-938 Male Heterozygous CAUSAL W100 7 579 03-BE25-D09D-969 Male Heterozygous CAUSAL W100 7 592 03-CH01-H08N-953 Male Heterozygous CAUSAL W58 7 601 03-BE25-F12O-945 Male Heterozygous CAUSAL W100 7 1550 02-AI01-R01C-983 Male Heterozygous CAUSAL W58 7 1589 02-AI01-F01R-978 Male Heterozygous CAUSAL W58 7
p.Arg229Cys	c.685C>T	4	229	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1533 02-IM21-D15R-954 Female Heterozygous UV 0 1972 04-AR01-J05-989 Male UV 0
p.Asp231His	c.691G>C	4	231	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 87 04-CA04-J05A-951 Male Heterozygous UV 0
p.Lys233Lys	c.699G>A	4	233	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1959 03-DZ09-A14-951 Female UV 0
p.Met234Leu	c.700A>T	4	234	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 618 03-GI18-S25L-966 Female Heterozygous UV 0
p.Cys241Tyr	c.722G>A	4	241	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 612 03-NO21-M25R-963 Female Heterozygous CAUSAL 24
p.Cys241Phe	c.722G>T	4	241	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Tv	G->T	11
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1458 01-HI18-M05L-003 Female Heterozygous CAUSAL W46 27 1460 01-TH09-M01X-999 Male Heterozygous CAUSAL W46 27 1461 01-TH09-R15M-975 Male Heterozygous CAUSAL W46 27 1462 01-TH09-R01P-993 Male Heterozygous CAUSAL W46 27 1464 01-BO21-Q21E-995 Male Heterozygous CAUSAL W46 27 1465 01-BO21-V09C-999 Male Heterozygous CAUSAL W46 27 1466 01-TH09-E13M-968 Female Heterozygous CAUSAL W46 27 1467 01-TH09-A14G-971 Female Heterozygous CAUSAL W46 27 1468 01-TH09-M01G-977 Female Heterozygous CAUSAL W46 27 1469 01-FR05-V09N-983 Male Heterozygous CAUSAL W46 27 1470 01-DH21-J15S-954 Female Heterozygous CAUSAL W46 27
p.Ala242Val	c.725C>T	4	242	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1960 01-MO14-D01-985 Female UV 0
p.Ile247Thr	c.740T>C	4	247	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1985 04-HO13-M01-952 Female UV 0
p.Thr251Pro	c.751A>C	4	251	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1899 03-GRE-001-000 Unknown UV 0
p.Thr251Ala	c.751A>G	4	251	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1961 04-MA19-I19A-954 Female UV 0
p.Ser253Leu	c.758C>T	4	253	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1942 04-OL19-M09-994 Female CAUSAL 0 1941 04-TH01-J05-953 Male CAUSAL 0 1919 04-ES20-M01-959 Female LIKELY CAUSAL 0 1878 04-ES20-M01R-959 Female Heterozygous LIKELY CAUSAL 43
p.Leu254Leu	c.762G>A	4	254	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 619 03-ST18-H05L-937 Female Heterozygous LIKELY NEUTRAL 0
p.Tyr268Cys	c.803A>G	5	268	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1929 01-JO01-G05-948 Male UV W2020-1 0 1783 02-BO21-R15L-947 Male Heterozygous UV 0
p.Leu270Leu	c.810G>C	5	270	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1943 04-CH01-D01N-004 Male UV 0
p.Arg275Lys	c.824G>A	5-6	275	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	12
UMD_id Sample ID Gender Mutation status Variation class Family ID References 93 04-BR21-J15E-956 Female Heterozygous CAUSAL W1148 0 94 04-BR21-E04O-985 Male Heterozygous CAUSAL W1148 0 95 04-BR21-B05N-983 Male Heterozygous CAUSAL W1148 0 96 04-MA18-M09R-949 Female Heterozygous CAUSAL W1148 0 684 03-EM05-J05A-940 Male Heterozygous CAUSAL W131 0 691 03-MA03-A14N-968 Female Heterozygous CAUSAL W1009 0 692 03-GR05-D05L-978 Female Heterozygous CAUSAL W108 0 693 03-VI05-V09C-965 Male Heterozygous CAUSAL W1004 0 695 03-BU09-D15M-948 Female Heterozygous CAUSAL W108 0 1802 02-FE18-A12E-977 Male Heterozygous CAUSAL W2050 0 1803 02-FE18-C08A-948 Female Heterozygous CAUSAL W2050 0 1804 02-FE18-J21L-977 Female Heterozygous CAUSAL W2050 0
p.Arg275Ser	c.825G>C	5-6	275	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	G->C	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 101 04-GA18-C12A-956 Male Heterozygous LIKELY CAUSAL W2095 0 102 04-GA18-L01U-977 Male Heterozygous LIKELY CAUSAL W2095 0 103 04-GA18-C05L-981 Female Heterozygous LIKELY CAUSAL W2095 0 104 04-RE02-G05R-959 Male Heterozygous LIKELY CAUSAL W2095 0 105 04-RE02-D05N-964 Male Heterozygous LIKELY CAUSAL W2095 0
p.Pro277Leu	c.830C>T	6	277	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	C->T	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 106 04-CO18-I07N-969 Male Heterozygous CAUSAL 0 697 03-BO14-A21D-979 Male Heterozygous CAUSAL W2043 0 1345 01-DE12-S05B-979 Male Heterozygous CAUSAL W229 0 1346 01-MO18-G05N-947 Female Heterozygous CAUSAL W229 0 1779 02-BO14-J05A-952 Male Heterozygous CAUSAL W2043 0
p.Met278Ile	c.834G>A	6	278	Pem,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1962 03-DE19-A13-963 Male UV 0
p.Gly281Arg	c.841G>A	6	281	Pem,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	11
UMD_id Sample ID Gender Mutation status Variation class Family ID References 699 03-PI05-R15G-939 Male Heterozygous CAUSAL W174 25 700 03-VA14-F09O-994 Female Heterozygous CAUSAL W151 25 701 03-VA14-L21C-991 Female Heterozygous CAUSAL W151 25 702 03-VA14-L01U-966 Female Heterozygous CAUSAL W151 25 703 03-CO21-O12I-971 Male Heterozygous CAUSAL W151 25 704 03-PI05-J05A-964 Male Heterozygous CAUSAL W174 25 705 03-CL01-A14N-968 Female Heterozygous CAUSAL W211 25 1341 01-CO21-D01N-955 Male Heterozygous CAUSAL W47 25 1446 01-LA16-G05O-981 Male Heterozygous CAUSAL W151 14 1447 01-RI03-P01S-960 Male Heterozygous CAUSAL W151 14 1576 02-FO14-A14N-970 Female Heterozygous CAUSAL 25
p.Gly281Glu	c.842G>A	6	281	Pem,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1646 02-GE18-G12A-994 Female Heterozygous LIKELY CAUSAL 1103 13
p.Gly281Gly	c.843G>C	6	281	Pem,NM,NMH,FA,HD		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 107 04-RO13-X01V-975 Male Heterozygous LIKELY NEUTRAL 0
p.Glu290Val	c.869A>T	6	290	Pem,NM,RP,NMH,FA,HD		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 108 04-ST05-J05N-986 Female Heterozygous UV 0 1920 04-ST05-J05-986 Female UV 0
p.Leu301Leu	c.903C>T	6	301	Pem,NM,RP,NMH,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1945 04-BL01-F18-981 Male UV 0
p.Lys304Lys	c.912G>A	6	304	Pem,NM,RP,NMH,FA,HD		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1946 04-VI05-J05-948 Male LIKELY CAUSAL 0
p.Gly305Asp	c.914G>A	7	305	NF,Pem,NM,RP,NMH,FA,HD		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 768 03-MA18-M01R-968 Male Heterozygous LIKELY CAUSAL W2018 26 770 03-MA18-J15S-945 Male Heterozygous LIKELY CAUSAL W2018 26
p.Thr311Pro	c.931A>C	7	311	NF,NM,RP,FA,HD		Small rearrangement	Tv	A->C	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 731 03-AU18-A21R-983 Male Heterozygous LIKELY CAUSAL W109 3 732 03-GU09-J21L-978 Male Heterozygous LIKELY CAUSAL W109 3 733 03-PI03-N09C-956 Female Heterozygous LIKELY CAUSAL W109 3 745 03-AU18-B05R-948 Male Heterozygous LIKELY CAUSAL W109 3 1586 02-MA18-M01D-926 Female Heterozygous LIKELY CAUSAL 3
p.Arg314Pro	c.941G>C	7	314	NF,NM,RP,FA,HD		Small rearrangement	Tv	G->C	13
UMD_id Sample ID Gender Mutation status Variation class Family ID References 110 03-BL01-K01T-980 Female Heterozygous CAUSAL W85 7 112 04-BL01-F18E-988 Male Heterozygous CAUSAL W85 7 734 04-BL01-V01N-984 Male Heterozygous CAUSAL W85 7 736 03-BL01-F18E-988 Male Heterozygous CAUSAL W85 7 739 03-CA22-S15P-978 Female Heterozygous CAUSAL W85 7 740 03-CA22-M01T-993 Female Heterozygous CAUSAL W85 7 741 03-CA22-C12A-980 Female Heterozygous CAUSAL W85 7 746 03-CA22-C08R-953 Male Heterozygous CAUSAL W85 9 747 03-DI22-L09S-951 Female Heterozygous CAUSAL W85 7 748 03-CA22-P01T-961 Male Heterozygous CAUSAL W85 7 753 03-CA22-R05M-956 Male Heterozygous CAUSAL W85 7 766 03-AT07-C08A-005 Female Heterozygous CAUSAL W85 7 1881 04-CA22-E12S-976 Female Heterozygous CAUSAL W85 7
p.Glu316Asp	c.948A>T	7	316	NF,NM,RP,FA,HD		Small rearrangement	Tv	A->T	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 114 04-FO21-R15M-984 Male Heterozygous UV W1094 0 115 04-OT08-G21I-989 Male Heterozygous UV W2098 0 116 04-OT08-J15S-961 Female Heterozygous UV W2098 0 117 04-OT08-O03E-995 Female Heterozygous UV W2098 0 118 04-OT08-B05N-996 Male Heterozygous UV W2098 0
p.His317Tyr	c.949C>T	7	317	NF,NM,RP,FA,HD		Small rearrangement	Ts	C->T	9
UMD_id Sample ID Gender Mutation status Variation class Family ID References 119 04-GU20-N15E-992 Female Heterozygous LIKELY CAUSAL W2015 14 120 04-GU20-C08R-958 Male Heterozygous LIKELY CAUSAL W2015 14 717 03-SE12-J05A-959 Male Heterozygous LIKELY CAUSAL W1022 9 719 03-SC08-A12B-933 Male Heterozygous LIKELY CAUSAL W156 9 720 03-GA02-M01R-987 Female Heterozygous LIKELY CAUSAL W156 9 721 03-GA02-A14A-985 Female Heterozygous LIKELY CAUSAL W156 9 722 03-GA02-B18I-960 Female Heterozygous LIKELY CAUSAL W156 9 759 03-FU08-C01M-005 Female Heterozygous LIKELY CAUSAL W2013 9 762 03-FU08-L21C-968 Male Heterozygous LIKELY CAUSAL W2013 9
p.His317Arg	c.950A>G	7	317	NF,NM,RP,FA,HD		Small rearrangement	Ts	A->G	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 724 03-PA20-P01T-963 Female Heterozygous LIKELY CAUSAL W127 7 728 03-SA14-G21I-978 Male Heterozygous LIKELY CAUSAL W127 7 729 03-SA14-A12A-952 Male Heterozygous LIKELY CAUSAL W127 7 730 03-RU06-A14N-958 Female Heterozygous LIKELY CAUSAL W127 7 737 03-RU06-D25L-992 Male Heterozygous LIKELY CAUSAL W127 9 738 03-GE18-T08I-966 Male Heterozygous LIKELY CAUSAL W127 9 769 03-GE18-P01T-963 Female Heterozygous LIKELY CAUSAL W127 12
p.Pro320His	c.959C>A	7	320	NF,NM,RP,FA,HD		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 122 04-RA14-P08I-941 Male Heterozygous LIKELY CAUSAL 0
p.Pro320Leu	c.959C>T	7	320	NF,NM,RP,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1623 02-CH05-Y21N-971 Female Heterozygous CAUSAL 35
p.Met322Leu	c.964A>T	7	322	NF,NM,RP,FA,HD		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1561 02-PH01-N09C-951 Female Heterozygous UV W1122 0 1562 02-PH01-D01N-948 Female Heterozygous UV W1122 0
p.Ala325Val	c.974C>T	7	325	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1981 01-RA07-N09-984 Male LIKELY CAUSAL W2022-13 0
p.Asn331Asn	c.993C>T	7	331	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 715 03-GO14-S15L-949 Female Heterozygous LIKELY NEUTRAL W1076 0 716 03-GO14-A14N-983 Female Heterozygous LIKELY NEUTRAL W1076 0
p.Ala337Asp	c.1010C>A	7	337	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	C->A	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 718 03-PL01-H05L-965 Female Heterozygous LIKELY CAUSAL W29 7 725 03-BE18-C15R-959 Female Heterozygous LIKELY CAUSAL W29 7 742 03-BE18-S05B-988 Male Heterozygous LIKELY CAUSAL W29 7 756 03-RO12-A14N-942 Female Heterozygous LIKELY CAUSAL W29 21 1557 02-BE18-M09C-935 Female Heterozygous LIKELY CAUSAL W29 21 1558 02-RO25-S05B-988 Male Heterozygous LIKELY CAUSAL W29 21 1560 02-PL01-N09C-994 Male Heterozygous LIKELY CAUSAL W29 21
p.Trp341Arg	c.1021T>C	7	341	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 743 03-TE12-D05L-972 Female Heterozygous LIKELY CAUSAL W94 9 751 03-TE12-D05N-949 Male Heterozygous LIKELY CAUSAL W94 7
p.Thr344Arg	c.1031C>G	7	344	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1922 04-HA02-K09-001 Male CAUSAL 0
p.Ala345Asp	c.1034C>A	7	345	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 125 04-CA14-D01N-965 Male Heterozygous UV 0 1924 04-CA14-D01-965 Male UV 0
p.Tyr351Cys	c.1052A>G	8	351	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	A->G	15
UMD_id Sample ID Gender Mutation status Variation class Family ID References 786 01-AL09-L21C-005 Female Heterozygous CAUSAL W240 0 787 01-AL09-A21R-987 Female Heterozygous CAUSAL W240 0 791 03-GU05-C08A-987 Male Heterozygous CAUSAL W240 0 793 01-LE19-C01R-977 Female Heterozygous CAUSAL W240 0 800 01-AL09-D01V-979 Male Heterozygous CAUSAL W240 0 807 03-AL09-J05R-969 Male Heterozygous CAUSAL W240 0 812 03-AL09-D15M-952 Female Heterozygous CAUSAL W240 0 813 03-AL09-A14T-977 Male Heterozygous CAUSAL W240 0 814 03-GU05-C01T-955 Female Heterozygous CAUSAL W240 0 817 03-BA18-B05N-963 Male Heterozygous CAUSAL W998 0 1389 01-LE19-T09T-004 Male Heterozygous CAUSAL W240 0 1772 02-BA18-E12O-991 Female Heterozygous CAUSAL W998 0 1773 02-BA18-S09N-986 Female Heterozygous CAUSAL W998 0 1774 02-BA18-V01N-989 Female Heterozygous CAUSAL W998 0 1883 04-AL09-F01B-984 Female Heterozygous CAUSAL W240 0
p.Asn352Asp	c.1054A>G	8	352	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1963 01-DA12-M15-959 Male UV 0
p.Arg355Trp	c.1063C>T	8	355	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 133 04-LA22-J05A-944 Male Heterozygous UV 15
p.Asp357His	c.1069G>C	8	357	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	G->C	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 795 03-LA22-A04R-984 Male Heterozygous LIKELY CAUSAL W144 9 796 03-LA22-A21R-979 Female Heterozygous LIKELY CAUSAL W144 9 797 03-LA22-J15E-952 Male Heterozygous LIKELY CAUSAL W144 9 1409 01-LI05-F01B-961 Female Heterozygous LIKELY CAUSAL 9
p.Ile360Phe	c.1078A>T	8	360	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 798 02-RE07-P01S-970 Male Heterozygous UV W1024 0
p.Ile360Ile	c.1080C>T	8	360	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 136 04-VI07-V05R-970 Female Heterozygous LIKELY NEUTRAL 0 806 03-TR01-C01T-963 Female Heterozygous LIKELY NEUTRAL 0
p.Ala368Asp	c.1103C>A	8	368	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	C->A	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 792 03-IV01-J05A-950 Male Heterozygous LIKELY CAUSAL W147 7 794 03-FA02-A12E-992 Male Heterozygous LIKELY CAUSAL W147 7 799 03-FA02-J05A-949 Male Heterozygous LIKELY CAUSAL W147 7 802 03-IV01-A14N-926 Female Heterozygous LIKELY CAUSAL W147 7 808 03-IV01-M01Y-988 Female Heterozygous LIKELY CAUSAL W147 7 809 03-IV01-L01U-985 Female Heterozygous LIKELY CAUSAL W147 7
p.Leu376Leu	c.1128G>A	8	376	Ju,NF,Pem,NM,RP,FA,mS,HD		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1925 04-LA06-C05-958 Female UV 0
p.Ala385Val	c.1154C>T	8	385	Ju,Pem,NM,RP,FA,mS,HD		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 801 03-MO21-C01R-979 Female Heterozygous UV W133 12 803 03-MO21-C15L-951 Female Heterozygous UV W133 12
p.Gly386Gly	c.1158C>T	8	386	Ju,Pem,NM,RP,FA,mS,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1974 01-DO18-S25-966 Female UV 0
p.Pro390Pro	c.1170G>A	8	390	Ju,Pem,NM,RP,FA,HD		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 138 04-AY01-S01R-986 Female Heterozygous LIKELY NEUTRAL 0 139 04-PE18-P18I-986 Female Heterozygous LIKELY NEUTRAL 0 1926 04-AY01-S01-986 Female LIKELY NEUTRAL 0
p.Ala403Thr	c.1207G>A	9	403	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1930 01-QU05-E12-978 Female UV W2020-3 0
p.Ala403Ala	c.1209C>A	9	403	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1641 02-DE19-M01R-943 Male Heterozygous UV 0
p.Ala411Pro	c.1231G>C	9	411	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 822 03-FO12-M01R-961 Female Heterozygous LIKELY CAUSAL W1093 29 1685 02-BO21-B12O-983 Female Heterozygous LIKELY CAUSAL 29
p.Leu413Pro	c.1238T>C	9	413	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	T->C	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1315 01-BO21-E19T-999 Male Heterozygous CAUSAL W2042 34 1316 01-BO21-E12O-000 Female Heterozygous CAUSAL W2042 34 1317 01-BO21-P08I-970 Male Heterozygous CAUSAL W2042 34
p.Asp418Asn	c.1252G>A	9	418	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	G->A	38
UMD_id Sample ID Gender Mutation status Variation class Family ID References 158 04-SI18-Y01N-969 Male Heterozygous CAUSAL W2081 4 159 04-SI18-J05A-944 Male Heterozygous CAUSAL W2081 4 819 03-RO02-A14N-936 Female Heterozygous CAUSAL W1102 7 824 03-CH01-B18I-986 Male Heterozygous CAUSAL W230 7 828 03-CH01-R05M-949 Male Heterozygous CAUSAL W37 7 830 03-CH01-B05N-977 Male Heterozygous CAUSAL W37 7 831 03-CH01-A14N-944 Male Heterozygous CAUSAL W37 7 832 03-CH01-L01E-981 Female Heterozygous CAUSAL W37 7 846 03-BU12-H05L-949 Female Heterozygous CAUSAL W230 7 847 03-MA19-M09C-956 Female Heterozygous CAUSAL W201 7 848 03-CH01-K01R-987 Female Heterozygous CAUSAL W37 7 860 03-RE20-M01R-947 Female Heterozygous CAUSAL W37 7 871 03-CH01-M01R-950 Female Heterozygous CAUSAL W37 7 883 03-CH01-C08R-955 Male Heterozygous CAUSAL W37 3 891 03-CH01-G05R-960 Male Heterozygous CAUSAL W37 14 892 03-CH01-J05A-958 Male Heterozygous CAUSAL W37 14 893 03-CH01-J05A-932 Female Heterozygous CAUSAL W37 14 894 03-CH01-M09C-943 Male Heterozygous CAUSAL W37 14 895 03-MA18-M01R-970 Female Heterozygous CAUSAL W37 14 896 03-MA18-S09M-937 Female Heterozygous CAUSAL W37 14 912 03-CH01-N01T-971 Female Heterozygous CAUSAL 21 916 03-CH15-C12A-940 Male Heterozygous CAUSAL 21 918 03-LE08-J05A-948 Male Heterozygous CAUSAL W1107 21 922 03-ZA14-Q21E-999 Male Heterozygous CAUSAL W1107 21 926 03-ZA14-S25L-972 Female Heterozygous CAUSAL W1107 7 1307 01-TA02-M25R-991 Female Heterozygous CAUSAL W2040 6 1308 01-BE20-F18A-962 Female Heterozygous CAUSAL W2040 6 1309 01-TA02-S01M-985 Male Heterozygous CAUSAL W2040 6 1340 03-CH01-D01V-983 Male Heterozygous CAUSAL W230 21 1472 01-WA18-C01R-973 Female Heterozygous CAUSAL W2057 21 1475 01-WA22-M01R-955 Female Heterozygous CAUSAL W49 21 1474 01-WA18-N01D-945 Female Heterozygous CAUSAL W2057 21 1590 02-HA25-B18U-957 Male Heterozygous CAUSAL W1077 14 1591 02-HA25-A18T-996 Male Heterozygous CAUSAL W1077 14 1807 02-GE04-D21M-988 Male Heterozygous CAUSAL W2036 7 1808 02-GE04-J15S-954 Male Heterozygous CAUSAL W2036 7 1809 02-GE04-P08A-989 Female Heterozygous CAUSAL W2036 7 1884 04-QU09-P01T-971 Female Heterozygous CAUSAL 7
p.Asp418Tyr	c.1252G>T	9	418	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1948 04-SE07-V01-969 Female CAUSAL 0
p.Asp418Asp	c.1254C>T	9	418	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1847 Benign 0
p.Gly419Asp	c.1256G>A	9	419	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 924 03-LE03-J05R-979 Male Heterozygous UV 0
p.Ile420Asn	c.1259T>A	9	420	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 869 03-PA12-F18E-959 Female Heterozygous LIKELY CAUSAL W1025 0
p.Ile420Ser	c.1259T>G	9	420	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 930 03-PU12-L01U-961 Female Heterozygous LIKELY CAUSAL 0
p.Trp423Arg	c.1267T>C	9	423	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 827 03-MP15-C15L-969 Female Heterozygous CAUSAL W1026 0
p.Trp423Cys	c.1269G>C	9	423	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 934 03-AU02-F12O-968 Female Heterozygous LIKELY CAUSAL W1113 0
p.Trp423Cys	c.1269G>T	9	423	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 929 03-PE18-M15N-947 Female Heterozygous LIKELY CAUSAL 0
p.Glu424Lys	c.1270G>A	9	424	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1949 01-OU01-H01-977 Male UV W2021-4 0
p.Glu425Lys	c.1273G>A	9	425	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 915 03-PE18-R15G-939 Male Heterozygous UV 0
p.Ser427Arg	c.1279A>C	9	427	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Tv	A->C	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 908 03-TA04-E19T-978 Female Heterozygous LIKELY CAUSAL W2029 0 913 03-LE10-Y22E-937 Female Heterozygous LIKELY CAUSAL W2029 0 923 03-TA04-F05R-939 Female Heterozygous LIKELY CAUSAL W2029 0
p.Leu432Leu	c.1296G>A	9	432	Pem,NM,RP,HD,CH		Small rearrangement	Ts	G->A	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1505 02-CO08-R05B-985 Female Heterozygous LIKELY NEUTRAL 0 1904 04-AY01-S01R-986 Female LIKELY NEUTRAL 0 1885 04-MO14-M01R-959 Female Heterozygous LIKELY NEUTRAL 0 1886 04-BO21-S15P-955 Female Heterozygous LIKELY NEUTRAL 0
p.Leu432Leu	c.1296G>C	9	432	Pem,NM,RP,HD,CH		Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1636 02-GO14-M01N-971 Female Heterozygous LIKELY NEUTRAL 0 1686 02-MO21-L09L-980 Female Heterozygous LIKELY NEUTRAL 0
p.His433His	c.1299T>C	9	433	Pem,NM,RP,HD,CH		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1677 Benign 0
p.Trp436Arg	c.1306T>A	9	436	Pem,NM,RP,HD,CH		Small rearrangement	Tv	T->A	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 914 03-BO04-S25L-960 Female Heterozygous LIKELY CAUSAL 0 935 03-LA16-N09C-980 Male Heterozygous LIKELY CAUSAL W1099 0
p.Ser443Tyr	c.1328C>A	9	443	Pem,NM,RP,HD,CH		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 834 03-SC08-L09S-966 Female Heterozygous LIKELY CAUSAL W137 0 876 03-PA09-L09L-935 Female Heterozygous LIKELY CAUSAL W137 0
p.Phe447Leu	c.1341T>G	9	447	Pem,NM,RP,HD,CH		Small rearrangement	Tv	T->G	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 917 03-BL01-E13I-979 Female Heterozygous LIKELY CAUSAL W2030 0 919 03-BL01-S25L-957 Female Heterozygous LIKELY CAUSAL W2030 0 920 03-KR05-F01B-968 Male Heterozygous LIKELY CAUSAL W2030 0
p.Arg452Trp	c.1354C>T	10	452	Pem,NM,CH		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 169 04-DU16-A09M-943 Female Heterozygous UV 0 170 04-GA18-M01R-951 Female Heterozygous UV 0 1214 03-OK20-M09C-954 Male Heterozygous UV 0
p.Ala464Ala	c.1392G>A	10	464	Pem,NM,CH		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1227 03-CA03-J05S-985 Female Heterozygous LIKELY NEUTRAL 0
p.Ala465Ala	c.1395C>T	10	465	Pem,NM,CH		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1860 04-NI03-F01B-978 Male Heterozygous LIKELY NEUTRAL 0
p.Glu469Gln	c.1405G>C	10	469	Pem,NM,CH		Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1198 03-DU18-H05N-966 Male Heterozygous UV W2035 0 1199 01-DU18-N09C-995 Male Heterozygous UV W2035 0
p.Pro470Leu	c.1409C>T	10	470	Pem,NM,CH		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1975 04-VE18-I19-984 Male NEUTRAL 0
p.Glu486Gly	c.1457A>G	10	486	Sm,NM,CH		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1982 01-HE14-C01R-005 Female LIKELY CAUSAL 0
p.Gly505Ser	c.1513G>A	10	505	Sm3,CH		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1596 02-YI14-P01U-964 Female Heterozygous UV 0
p.Gly505Val	c.1514G>T	10	505	Sm3,CH		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 976 03-GA21-C01N-986 Female Heterozygous UV W2039 0 1216 03-GA21-M01R-950 Female Heterozygous UV W2039 0
p.Gln508Lys	c.1522C>A	10	508	Sm3,CH		Small rearrangement	Tv	C->A	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1456 01-TR01-M15N-937 Female Heterozygous LIKELY NEUTRAL 0 1577 02-PA19-V01L-966 Female Heterozygous LIKELY NEUTRAL W2056 0 1578 02-SA14-D05L-970 Female Heterozygous LIKELY NEUTRAL W2056 0
p.Ser512Leu	c.1535C>T	10	512	Sm3,CH		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1894 04-PA21-M01M-956 Female Heterozygous LIKELY NEUTRAL 0 1668 02-WE18-M09C-959 Female Heterozygous LIKELY NEUTRAL 0
p.Pro514Leu	c.1541C>T	10	514	Sm3,CH		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1192 03-MA26-A13A-978 Female Heterozygous LIKELY NEUTRAL W12 0
p.Arg516Gln	c.1547G>A	10	516	Sm3,CH		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1285 03-FR21-F12O-984 Male Heterozygous UV 0
p.Gly520Gly	c.1560G>A	10	520	Sm3,CH		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1964 04-BO19-C08R-951 Female UV 0
p.Ala523Pro	c.1567G>C	10	523	Sm3,CH		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1594 02-LI14-M01R-962 Male Heterozygous UV 0
p.Gly532Cys	c.1594G>T	10	532	Sm3,CH		Small rearrangement	Tv	G->T	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 206 04-GL15-C01R-965 Female Heterozygous UV 9 1372 01-FR01-G01E-977 Female Heterozygous UV W1112 3 1373 01-FR01-E13E-987 Female Heterozygous UV W1112 3 1374 01-FR01-E12E-985 Female Heterozygous UV W1112 3 1375 01-FR01-D15M-957 Female Heterozygous UV W1112 3 1376 01-FR01-D01N-978 Male Heterozygous UV W1112 3 1514 02-KO16-H05N-938 Male Heterozygous UV 3
p.Pro540Ser	c.1618C>T	10	540	Sm3,CH		Small rearrangement	Ts	C->T	13
UMD_id Sample ID Gender Mutation status Variation class Family ID References 207 04-CH01-S25L-967 Male Heterozygous UV W2072 14 208 04-CH01-S01L-997 Female Heterozygous UV W2072 14 209 04-GU05-T08I-970 Male Heterozygous UV W2071 14 210 04-GU05-E12I-942 Female Heterozygous UV W2071 14 211 04-GU05-F12O-964 Female Heterozygous UV W2071 14 212 04-OL09-S25V-963 Female Heterozygous UV W2094 14 213 04-OL09-H05L-938 Female Heterozygous UV W2094 14 214 04-RO07-M01R-990 Male Heterozygous UV W2094 14 1108 03-DU02-D01N-944 Female Heterozygous UV W1029 14 1174 03-GU01-P09E-934 Male Heterozygous UV W1027 14 1274 03-AY18-J05A-944 Male Heterozygous UV W1033 14 1282 03-AY18-M09C-006 Male Heterozygous UV W1033 14 1889 04-QU05-C12A-947 Female Heterozygous UV 14
p.Thr541Ala	c.1621A>G	10	541	Sm3,CH		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1700 0-000-000-000 Heterozygous Polymorphism 30
p.Thr541Ser	c.1621A>T	10	541	Sm3,CH		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1584 02-LA13-M01R-952 Female Heterozygous UV 0
p.Pro545Pro	c.1635G>A	10	545	Sm3,CH		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1976 04-BE25-Y01-005 Female UV 0
p.Val550Leu	c.1648G>C	10	550	Sm3,CH		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1965 01-MA18-J15-965 Male UV 0
p.Leu551Pro	c.1652T>C	10	551	Sm3,CH		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1606 02-FL15-A14N-935 Female Heterozygous LIKELY CAUSAL W2051 0
p.Ser555Asn	c.1664G>A	10	555	Sm3,CH		Small rearrangement	Ts	G->A	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1030 03-RI16-S20E-978 Female Heterozygous LIKELY CAUSAL W2 9 1031 03-RI16-V01L-969 Female Heterozygous LIKELY CAUSAL W2 9 1032 03-RI16-D09D-968 Male Heterozygous LIKELY CAUSAL W2 9 1165 03-RI16-F18A-937 Male Heterozygous LIKELY CAUSAL W2 9
p.Ser555Thr	c.1664G>C	10	555	Sm3,CH		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1047 03-JA03-A14T-947 Male Heterozygous LIKELY CAUSAL W1031 0
p.Ser555Arg	c.1665T>G	10	555	Sm3,CH		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 966 03-PO09-A14N-960 Female Heterozygous LIKELY CAUSAL W148 3 1114 03-TO06-A14D-939 Female Heterozygous LIKELY CAUSAL W148 3
p.Asn571Ser	c.1712A>G	10	571	Sm,ASK,CH		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1967 03-NA22-A21-991 Female UV 0
p.Ser572Leu	c.1715C>T	10	572	Sm,ASK,CH		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1977 01-GR09-F01-970 Female UV 0
p.Ser572Ser	c.1716G>C	10	572	Sm,ASK,CH		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1968 03-GU09-G05-943 Female UV 0
p.Ile575Ser	c.1724T>G	10	575	Sm,ASK,CH		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1890 04-EQ21-C08R-957 Female Heterozygous LIKELY CAUSAL 0
p.Lys588Lys	c.1764G>A	10	588	Sm,ASK,CH		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1950 04-DE20-L09-989 Female LIKELY NEUTRAL 0
p.Arg605Gln	c.1814G>A	10	605	Sm,ASK,CH		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1705 02-DR15-A18N-962 Male Heterozygous UV 0