The UMD-MEN1 mutations database
All mutations (1761 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.Met1?	c.1_1833del	2	1	Ju, NM, RP		Large rearrangement Deletion from exon 2 to 10	InF	Stop at 26	67
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1895 03-AR12-P08I-981 Male Heterozygous CAUSAL W2073 0 1483 03-AN03-N09C-948 Male Heterozygous CAUSAL W70 0 1485 03-ME18-P01T-951 Male Heterozygous CAUSAL W129 0 1486 03-GO01-A18M-967 Male Heterozygous CAUSAL W155 0 1489 03-DE15-W09L-987 Male Heterozygous CAUSAL W34 0 1490 03-DE15-M01R-962 Female Heterozygous CAUSAL W34 0 1491 03-DE01-M01R-959 Female Heterozygous CAUSAL W34 0 1492 03-AR12-F18A-975 Male Heterozygous CAUSAL W2073 0 1710 03-DA12-K01R-970 Female Heterozygous CAUSAL W21 0 1711 03-DA12-E13I-002 Female Heterozygous CAUSAL W21 0 1712 03-DE22-C08I-959 Male Heterozygous CAUSAL W21 0 1713 01-WI20-C08A-962 Female Heterozygous CAUSAL W21 0 1714 03-BO21-C08R-953 Female Heterozygous CAUSAL W21 0 1715 03-DE12-J15C-956 Male Heterozygous CAUSAL W21 0 1716 01-CA18-S01R-973 Female Heterozygous CAUSAL W21 0 1717 03-PI17-M01R-959 Female Heterozygous CAUSAL W21 0 1718 01-DE23-S25L-977 Female Heterozygous CAUSAL W21 0 1719 01-BO21-C08R-975 Female Heterozygous CAUSAL W21 0 1720 03-DA12-R15G-953 Male Heterozygous CAUSAL W21 0 1721 03-MA18-M01R-963 Female Heterozygous CAUSAL W21 0 1722 01-BE04-L21C-958 Male Heterozygous CAUSAL W21 0 1723 01-BE04-J01C-990 Male Heterozygous CAUSAL W21 0 1724 01-BE04-Y22E-935 Female Heterozygous CAUSAL W21 0 1725 03-DE22-L09L-931 Female Heterozygous CAUSAL W21 0 1726 03-DA12-D01N-952 Male Heterozygous CAUSAL W21 0 1727 01-BO05-N01T-968 Female Heterozygous CAUSAL W21 0 1728 01-VE18-A14G-980 Female Heterozygous CAUSAL W21 0 1729 01-BO21-L09O-946 Male Heterozygous CAUSAL W21 0 1730 01-BO21-Y22O-957 Male Heterozygous CAUSAL W21 0 1731 01-BO21-Y22E-930 Female Heterozygous CAUSAL W21 0 1732 01-PE03-M01R-952 Female Heterozygous CAUSAL W21 0 1733 01-BO21-H05L-982 Female Heterozygous CAUSAL W21 0 1734 01-CH15-H05L-982 Female Heterozygous CAUSAL W21 0 1735 01-DA12-S01N-979 Female Heterozygous CAUSAL W21 0 1736 01-CH05-S25L-961 Female Heterozygous CAUSAL W21 0 1737 01-DU03-C08A-956 Female Heterozygous CAUSAL W21 0 1738 03-DE22-C08R-967 Male Heterozygous CAUSAL W21 0 1739 01-CO17-R15G-923 Male Heterozygous CAUSAL W21 0 1740 01-CH15-P08I-952 Male Heterozygous CAUSAL W21 0 1741 01-DA12-J05A-946 Male Heterozygous CAUSAL W21 0 1742 01-BO21-S25L-987 Female Heterozygous CAUSAL W21 0 1743 01-DE12-J21L-987 Male Heterozygous CAUSAL W21 0 1744 01-DE12-P18I-980 Female Heterozygous CAUSAL W21 0 1745 01-DE12-S05B-983 Male Heterozygous CAUSAL W21 0 1746 01-DU03-S15P-983 Female Heterozygous CAUSAL W21 0 1747 01-GA16-M01R-962 Female Heterozygous CAUSAL W21 0 1748 01-DE12-N01T-954 Female Heterozygous CAUSAL W21 0 1749 01-CH15-D15M-954 Female Heterozygous CAUSAL W21 0 1750 01-DE12-L01U-985 Female Heterozygous CAUSAL W21 0 1751 01-DE12-R15G-984 Male Heterozygous CAUSAL W21 0 1752 01-BE04-L21C-985 Female Heterozygous CAUSAL W21 0 1753 01-BE04-P01T-959 Male Heterozygous CAUSAL W21 0 1754 01-CH15-N01D-000 Female Heterozygous CAUSAL W21 0 1755 01-CO17-F18A-949 Male Heterozygous CAUSAL W21 0 1756 01-DA12-J05A-957 Male Heterozygous CAUSAL W21 0 1757 03-DA12-O12I-972 Male Heterozygous CAUSAL W21 0 1758 01-DA12-H05L-986 Female Heterozygous CAUSAL W21 0 1759 01-DE22-M09C-937 Female Heterozygous CAUSAL W21 0 1760 01-DE22-A12E-986 Female Heterozygous CAUSAL W21 0 1761 01-JO12-H01R-997 Female Heterozygous CAUSAL W21 0 1762 01-BO13-F18A-955 Female Heterozygous CAUSAL W21 0 1763 01-DA12-L09L-996 Male Heterozygous CAUSAL W21 0 1764 01-DE12-R15M-997 Male Heterozygous CAUSAL W21 0 1765 01-DE22-A14G-998 Female Heterozygous CAUSAL W21 0 1766 01-PE03-F12O-976 Female Heterozygous CAUSAL W21 0 1767 01-BO21-L09L-996 Male Heterozygous CAUSAL W21 0 1768 01-BE04-C09N-990 Female Heterozygous CAUSAL W21 0
p.Met1?	c.1_445del	2	1	Ju, NM, RP		Large rearrangement Deletion from exon 2 to 2	Fr.	Stop at 36	22
UMD_id Sample ID Gender Mutation status Variation class Family ID References 227 04-SA14-A14N-933 Female Heterozygous CAUSAL W72 0 228 04-SA14-G05R-953 Female Heterozygous CAUSAL W72 0 1312 01-L01P-M01T-002 Male Heterozygous CAUSAL W2041 0 1313 01-LO16-D05N-949 Female Heterozygous CAUSAL W2041 0 1314 01-LO16-S01N-974 Female Heterozygous CAUSAL W2041 0 1427 01-BE12-A14T-993 Male Heterozygous CAUSAL W52 0 1428 01-BE12-A21R-997 Female Heterozygous CAUSAL W52 0 1429 01-BE12-E22A-999 Female Heterozygous CAUSAL W52 0 1430 01-PL05-O03E-998 Female Heterozygous CAUSAL W52 0 1431 01-PL05-C12E-001 Female Heterozygous CAUSAL W52 0 1432 01-PL05-N09C-949 Female Heterozygous CAUSAL W52 0 1433 01-PA19-Y22A-976 Female Heterozygous CAUSAL W52 0 1434 01-PL05-Y22O-973 Male Heterozygous CAUSAL W52 0 1435 01-LE12-E12I-950 Female Heterozygous CAUSAL W52 0 1436 01-LE12-E13I-980 Female Heterozygous CAUSAL W52 0 1437 01-LE12-H05L-978 Female Heterozygous CAUSAL W52 0 1438 01-PL05-P01S-967 Female Heterozygous CAUSAL W52 0 1480 03-JO21-E18I-958 Male Heterozygous CAUSAL W1058 0 1481 03-JO21-Y22O-936 Female Heterozygous CAUSAL W1058 0 1499 03-BE12-F18E-968 Female Heterozygous CAUSAL W52 0 1500 03-LE12-M09C-938 Male Heterozygous CAUSAL W52 0 1501 03-LE12-H12B-946 Male Heterozygous CAUSAL W52 0
p.Met1?	c.1_912del	2	1	Ju, NM, RP		Large rearrangement Deletion from exon 2 to 6	InF	In frame del	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1493 03-FE12-C01R-987 Female Heterozygous CAUSAL W280 0 1494 03-DE19-C08R-941 Female Heterozygous CAUSAL W280 0 1495 03-FE12-M01N-965 Male Heterozygous CAUSAL W280 0 1496 03-FE12-A14A-986 Female Heterozygous CAUSAL W280 0 1604 02-FE12-D21A-969 Male Heterozygous CAUSAL W2021 0 1605 02-FE12-L01E-999 Female Heterozygous CAUSAL W2021 0
p.Met1?	c.IVS1-10G>A (c.1-10G>A)	2	1	Ju, NM, RP		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 224 04-BE10-H01Y-983 Female Heterozygous LIKELY NEUTRAL 0 225 04-PA19-C25R-986 Male Heterozygous LIKELY NEUTRAL 0 1866 04-LA21-M09C-976 Male Heterozygous LIKELY NEUTRAL 0
p.Met1?	c.IVS1-19C>G (c.1-19C>G)	2	1	Ju, NM, RP		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1585 02-JO19-W02R-996 Male Heterozygous UV 0
p.Met1?	c.IVS1-20G>A (c.1-20G>A)	2	1	Ju, NM, RP		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1644 02-LA23-M09C-961 Female Heterozygous LIKELY NEUTRAL 0 1906 03-BE01-G05R-008 Female Heterozygous LIKELY NEUTRAL 0 1709 02-BL01-B18I-961 Unknown Heterozygous LIKELY NEUTRAL 0
p.Met1?	c.IVS1-22C>A (c.1-22C>A)	2	1	Ju, NM, RP		Small rearrangement	Tv	C->A	10
UMD_id Sample ID Gender Mutation status Variation class Family ID References 219 04-DE22-D09D-953 Male Heterozygous LIKELY NEUTRAL 0 220 04-DU13-C08R-956 Female Heterozygous LIKELY NEUTRAL 0 221 04-MA21-H05L-980 Female Heterozygous LIKELY NEUTRAL W2063 0 222 04-MO18-L21D-982 Male Heterozygous LIKELY NEUTRAL 0 223 04-PE20-J21L-988 Female Heterozygous LIKELY NEUTRAL 0 229 04-FA18-J05A-944 Male Heterozygous LIKELY NEUTRAL 0 1311 01-BL01-C15L-943 Female Heterozygous LIKELY NEUTRAL 0 1861 04-MA21-N05L-959 Female Heterozygous LIKELY NEUTRAL W2063 0 1867 04-BO21-P05G-976 Female Heterozygous LIKELY NEUTRAL 0 1868 04-BO21-H05L-980 Female Heterozygous LIKELY NEUTRAL 0
p.Met1?	c.IVS1-39C>G (c.1-39C>G)	2	1	Ju, NM, RP		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1651 02-BO18-C01R-979 Female Heterozygous Benign 0
p.Met1?	c.IVS1-56G>T (c.1-56G>T)	2	1			Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1978 01-DE-C01R-977 Female UV W2022-7 0
p.Met1?	c.IVS1-6G>A (c.1-6G>A)	2	1	Ju, NM, RP		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 226 04-MA18-J05A-980 Male Heterozygous LIKELY NEUTRAL 0 1418 01-MA26-L15U-995 Female Heterozygous LIKELY NEUTRAL w2060 0 1419 01-MA26-O12I-967 Male Heterozygous LIKELY NEUTRAL w2060 0
p.Leu3X	c.7delC	2	3	Ju, NM, RP		Small rearrangement	Fr.	Stop at 3	8
UMD_id Sample ID Gender Mutation status Variation class Family ID References 307 03-GA13-D15M-968 Female Heterozygous CAUSAL W69 0 422 03-GA13-A14N-994 Female Heterozygous CAUSAL W69 0 1445 02-RE13-A12A-952 Male Heterozygous CAUSAL W2023 0 1831 02-RE13-A12I-981 Female Heterozygous CAUSAL W2023 0 1832 02-RE13-C05C-988 Female Heterozygous CAUSAL W2023 0 1833 02-RE13-G21Y-947 Male Heterozygous CAUSAL W2023 0 1834 02-RE13-M09C-985 Male Heterozygous CAUSAL W2023 0 1835 02-RE13-Y22E-920 Female Heterozygous CAUSAL W2023 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.Val20GlyfsX97	c.58dup	2	20	Ju, NM, RP		Small rearrangement	Fr.	Stop at 116	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 346 03-GA12-N01T-964 Female Heterozygous CAUSAL W262 0 407 03-GA12-J15N-000 Male Heterozygous CAUSAL W262 0 408 03-GA12-L05O-992 Male Heterozygous CAUSAL W262 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.Phe23LeufsX96	c.69delT	2	23	Ju, NM, RP		Small rearrangement	Fr.	Stop at 118	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 3 04-MA12-B18I-945 Female Heterozygous CAUSAL W19 3 4 04-MA12-J05A-973 Male Heterozygous CAUSAL W19 3 293 03-GE18-S25L-971 Female Heterozygous CAUSAL W19 3 298 03-BR09-L09L-951 Female Heterozygous CAUSAL W19 9 299 03-ME09-S15N-944 Female Heterozygous CAUSAL W19 9 373 03-AL10-M15N-948 Female Heterozygous CAUSAL W19 3
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.Leu27ArgfsX89	c.79_88del	2	27	Ju, NM, RP		Small rearrangement	Fr.	Stop at 115	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 261 03-GE15-L21D-971 Male Heterozygous CAUSAL W1059 0 262 03-GE15-C08R-973 Male Heterozygous CAUSAL W1059 0 389 03-GE15-M09C-947 Male Heterozygous CAUSAL W1059 20 1664 02-MI12-D01M-969 Male Heterozygous CAUSAL 0
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.Arg29X	c.85C>T	2	29	Ju, NM, RP		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 269 03-VU10-N01D-979 Female Heterozygous CAUSAL W213 15 305 03-SC08-M01R-955 Female Heterozygous CAUSAL W1070 15 412 03-LI13-S05N-XXX Male Heterozygous CAUSAL 15
p.Glu31X	c.91G>T	2	31	Ju, NM, RP		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 237 03-CH01-J21L-981 Female Heterozygous CAUSAL W1114 0 1634 02-CH01-J21L-981 Male Heterozygous CAUSAL W1114 0
p.Val35CysfsX84	c.103delG	2	35	Ju, NM, RP		Small rearrangement	Fr.	Stop at 118	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1392 01-HE18-M01R-988 Female Heterozygous Mutation W1120 0
p.Leu37_Leu41del	c.108_122del	2	36	Ju, NM, RP		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1927 02-VA18-V09-990 Male LIKELY CAUSAL W2018-11 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.Pro55GlnfsX60	c.164_168delCTACC	2	55	Sm, NM		Small rearrangement	Fr.	Stop at 114	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 12 04-LL05-C08I-974 Female Heterozygous CAUSAL 0
p.Glu60SerfsX59	c.177delC	2	59	Sm, NM		Small rearrangement	Fr.	Stop at 118	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 241 03-RA02-M01R-978 Female Heterozygous CAUSAL W235 3
p.Asp70ProfsX51	c.191_195dup	2	66	Sm, NM		Small rearrangement	Fr.	Stop at 120	11
UMD_id Sample ID Gender Mutation status Variation class Family ID References 260 03-SI13-L21C--981 Male Heterozygous CAUSAL W248 15 265 03-SI22-N01D-956 Female Heterozygous CAUSAL W220 7 266 03-BE12-E12I-948 Female Heterozygous CAUSAL W220 15 271 03-BE12-F18A-977 Male Heterozygous CAUSAL W220 15 268 03-BE12-C01R-973 Female Heterozygous CAUSAL W220 15 369 03-SO21-J15S-947 Male Heterozygous CAUSAL W39 15 372 03-SO21-F18A-973 Male Heterozygous CAUSAL W39 15 386 03-GI18-M01R-994 Female Heterozygous CAUSAL W2004 15 413 03-PE25-M01R-938 Female Heterozygous CAUSAL 15 421 03-BO14-E12I-948 Female Heterozygous CAUSAL W220 0 428 03-GI18-C05C-962 Female Heterozygous CAUSAL W2004 15
p.Pro65_Ser66insSerPro	c.196_201dup	2	66	Sm, NM		Small rearrangement	Fr.	In frame ins	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 254 03-MA12-Y01N-973 Male Heterozygous LIKELY CAUSAL W256 0 255 03-MA12-J05A-946 Male Heterozygous LIKELY CAUSAL W256 0 378 03-MA12-S23A-007 Female Heterozygous LIKELY CAUSAL W256 0
p.Pro69ArgfsX49	c.202_205dup	2	69	Sm, NM		Small rearrangement	Fr.	Stop at 117	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1515 02-AR13-D01N-943 Female Heterozygous CAUSAL 0
p.Asp70ProfsX51	c.202_206dup	2	69	Sm, NM		Small rearrangement	Fr.	Stop at 120	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 15 04-MI12-S05T-970 Female Heterozygous CAUSAL W2076 7 19 04-MI12-M15R-992 Female Heterozygous CAUSAL W2076 7 230 03-JO12-O12I-966 Male Heterozygous CAUSAL W1144 7 281 03-PO20-V01N-984 Female Heterozygous CAUSAL W110 7 318 03-PO20-C05C-989 Female Heterozygous CAUSAL W110 7 322 03-PO20-E18I-960 Male Heterozygous CAUSAL W110 5 394 03-JO12-E19T-993 Female Heterozygous CAUSAL W1144 0
p.Pro69TrpfsX44	c.205_215del	2	69	Sm, NM		Small rearrangement	Fr.	Stop at 112	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 13 04-KW09-K05V-992 Male Heterozygous CAUSAL W2077 6 14 04-KW09-E18I-962 Male Heterozygous CAUSAL W2077 6
p.Asp70GlyfsX47	c.208dup	2	70	Sm, NM		Small rearrangement	Fr.	Stop at 116	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 247 03-GR25-J21L-986 Female Heterozygous CAUSAL W261 0 264 03-GR25-L01R-991 Female Heterozygous CAUSAL W261 0 301 03-KL05-J01C-939 Female Heterozygous CAUSAL W261 0 409 03-KL05-C01T-960 Female Heterozygous CAUSAL W261 0
p.Asp70GlyfsX48	c.208insGGTG	2	70	Sm, NM		Small rearrangement	Fr.	Stop at 117	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 232 03-AS09-V05R-971 Female Heterozygous CAUSAL W238 15 233 03-GE25-C08R-975 Male Heterozygous CAUSAL W238 15 234 03-RE09-V09N-979 Male Heterozygous CAUSAL W238 15 235 03-BA18-S20E-972 Female Heterozygous CAUSAL W238 15 236 03-RE09-S21Z-950 Female Heterozygous CAUSAL W238 15
p.Gly73LeufsX47	c.214_215dup	2	72	Sm, NM		Small rearrangement	Fr.	Stop at 119	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 21 04-VA18-S01R-003 Female Heterozygous CAUSAL W212 0 20 04-VA18-J05A-957 Male Heterozygous CAUSAL W212 0 270 03-VA18-J15S-954 Female Heterozygous CAUSAL W212 0
p.Tyr77ThrfsX42	c.228delC	2	76	Sm, NM		Small rearrangement	Fr.	Stop at 118	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 352 03-VI14-A14T-958 Male Heterozygous CAUSAL W80 7 353 03-VI14-D15M-952 Male Heterozygous CAUSAL W80 0 354 03-VI14-F18A-947 Male Heterozygous CAUSAL W80 7 355 03-VI14-O18E-925 Female Heterozygous CAUSAL W80 0 358 03-VI14-R01P-970 Male Heterozygous CAUSAL W80 7
p.Ile85SerfsX33	c.247_250delCTGT	2	83	Sm, NM		Small rearrangement	Fr.	Stop at 117	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 327 03-CH01-D15M-953 Male Heterozygous CAUSAL W152 0 1322 01-BU09-E04I-960 Female Heterozygous CAUSAL W152 0 1522 02-HI09-M09C-945 Female Heterozygous CAUSAL W2059 0 1523 02-HI09-M25R-979 Female Heterozygous CAUSAL W2059 0 1524 02-GI01-E19T-968 Female Heterozygous CAUSAL W2003 0 1525 02-GI01-R15B-995 Male Heterozygous CAUSAL W2003 0 1526 02-GI01-M15R-990 Female Heterozygous CAUSAL W2003 0
p.Ser84CysfsX36	c.249_250dup	2	83	Sm, NM		Small rearrangement	Fr.	Stop at 119	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 288 03-SI12-H05R-957 Female Heterozygous CAUSAL W18 7 289 03-MA20-M01N-945 Male Heterozygous CAUSAL W18 7 310 03-SI12-O19C-979 Male Heterozygous CAUSAL W18 0 311 03-MA20-S01N-981 Female Heterozygous CAUSAL W18 0
p.Ile85SerfsX33	c.249_252delGTCT	2	83	Sm, NM		Small rearrangement	Fr.	Stop at 117	45
UMD_id Sample ID Gender Mutation status Variation class Family ID References 22 04-BI03-S15F-004 Male Heterozygous CAUSAL W22 8 23 04-GR26-G09S-957 Female Heterozygous CAUSAL 8 24 04-LA13-A12A-958 Male Heterozygous CAUSAL W7 8 25 04-SU01-J01D-987 Female Heterozygous CAUSAL W257 8 231 03-MA08-B12A-972 Male Heterozygous CAUSAL W257 8 250 03-BO21-N01D-955 Female Heterozygous CAUSAL 8 251 03-MA08-A12E-987 Male Heterozygous CAUSAL W257 8 252 03-MA08-P01T-951 Male Heterozygous CAUSAL W257 8 253 03-SU01-E04I-958 Female Heterozygous CAUSAL W257 8 258 03-OS12-C08A-998 Female Heterozygous CAUSAL W1038 8 259 03-OS12-Y22E-942 Female Heterozygous CAUSAL W1038 8 276 03-RO13-S05B-977 Male Heterozygous CAUSAL W130 12 277 03-DE22-N01T-989 Female Heterozygous CAUSAL W130 9 278 03-DE12-C08R-964 Male Heterozygous CAUSAL W130 9 290 03-LA13-V01L-000 Female Heterozygous CAUSAL W7 2 292 03-JU09-M01R-950 Female Heterozygous CAUSAL W130 2 295 03-LA13-P09E-951 Male Heterozygous CAUSAL W7 8 296 03-LA13-M01R-960 Female Heterozygous CAUSAL W7 8 302 03-PA18-J05A-960 Female Heterozygous CAUSAL W130 8 309 03-VI14-C08R-951 Male Heterozygous CAUSAL W86 15 313 03-GA14-D10A-991 Male Heterozygous CAUSAL W22 7 314 03-GA14-D01O-995 Female Heterozygous CAUSAL W22 7 317 03-BI03-S09H-984 Female Heterozygous CAUSAL W22 15 321 03-CH05-B05R-955 Female Heterozygous CAUSAL W7 15 330 03-GA14-S01M-986 Female Heterozygous CAUSAL W22 15 334 03-RO21-S05B-972 Male Heterozygous CAUSAL W143 15 335 03-RO21-C01R-975 Female Heterozygous CAUSAL W143 15 336 03-R021-M01R-953 Female Heterozygous CAUSAL W143 15 341 03-BA21-I18E-923 Female Heterozygous CAUSAL W102 15 344 03-BI03-M15H-977 Male Heterozygous CAUSAL W22 15 347 03-PH09-V09N-962 Male Heterozygous CAUSAL W130 15 356 03-GA14-A13A-954 Male Heterozygous CAUSAL W22 15 357 03-LA13-GE14-949 Female Heterozygous CAUSAL W7 15 368 03-BI03-K08E-952 Female Heterozygous CAUSAL W22 15 371 03-MA18-R15S-947 Female Heterozygous CAUSAL W113 15 381 03-MA18-S01C-010 Male Heterozygous CAUSAL W2078 15 397 03-LE07-M15N-954 Female Heterozygous CAUSAL W130 15 403 03-MA18-A04R-981 Male Heterozygous CAUSAL W2078 15 405 03-OS12-J05A-969 Male Heterozygous CAUSAL W1038 15 410 03-SU01-A14N-976 Female Heterozygous CAUSAL W257 15 417 03-NU05-Z09G-985 Male Heterozygous CAUSAL 15 1896 03-MA18-A12Y-006 Female Heterozygous CAUSAL W2078 15 1290 01-AR03-J05A-947 Male Heterozygous CAUSAL W198 15 1662 02-LE18-M01R-970 Male Heterozygous CAUSAL 21 1775 02-BA21-J15H-948 Male Heterozygous CAUSAL W102 15
p.Ile85TyrfsX32	c.252dup	2	84	Sm, NM		Small rearrangement	Fr.	Stop at 116	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1403 01-LA14-B05R-957 Male Heterozygous CAUSAL W1098 0
	c.252_253delinsG	2	84	Sm, NM		Small rearrangement	indels	indels	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 238 03-SO21-G09L-943 Male Heterozygous CAUSAL W1064 0 239 03-SO21-S05B-976 Male Heterozygous CAUSAL W1064 0
p.Ser84delinsSerIle	c.252_254dup	2	84	Sm, NM		Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1954 04-BA18-M01R-975 Female UV 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.Leu89_Ala95del	c.266_286del	2	89	Sm, NM		Small rearrangement	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1771 02-AL02-P08I-951 Male Heterozygous UV W2001 0 1795 02-DEO-A12Z-967 Female Heterozygous UV W2001 0
p.Arg92AlafsX27	c.274delC	2	92	Sm, NM		Small rearrangement	Fr.	Stop at 118	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 308 03-PA18-A21R-979 Female Heterozygous CAUSAL W164 9 324 03-PA18-G21Y-949 Male Heterozygous CAUSAL W164 9
p.Gln96X	c.286C>T	2	96	Sm, NM		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 26 04-SE02-M15H-955 Male Heterozygous CAUSAL W1013 7 27 04-SE02-R01N-001 Female Heterozygous CAUSAL W1013 7 28 04-SE02-Y15U-989 Female Heterozygous CAUSAL W1013 7 359 03-CR05-F18A-952 Female Heterozygous CAUSAL W106 9
p.Arg98X	c.292C>T	2	98	Sm, NM		Small rearrangement	Ts	C->T	32
UMD_id Sample ID Gender Mutation status Variation class Family ID References 243 03-PO18-R15M-973 Male Heterozygous CAUSAL W231 9 280 03-MI18-S05B-977 Male Heterozygous CAUSAL W124 9 282 03-JO21-N15L-994 Female Heterozygous CAUSAL W45 8 283 03-BO21-V01N-987 Female Heterozygous CAUSAL W45 8 294 03-PO21-G05N-944 Female Heterozygous CAUSAL W231 7 300 03-PO18-M01R-942 Female Heterozygous CAUSAL W231 9 303 03-MO14-M01R-953 Female Heterozygous CAUSAL W231 9 316 03-CH01-C01T-974 Female Heterozygous CAUSAL W68 9 328 03-MI18-C25R-975 Male Heterozygous CAUSAL W124 9 329 03-MI18-N09C-952 Female Heterozygous CAUSAL W124 9 338 03-MA18-S20E-969 Male Heterozygous CAUSAL W68 9 339 03-CH01-M01R-947 Female Heterozygous CAUSAL W68 9 342 03-MA18-D05N-949 Female Heterozygous CAUSAL W68 9 363 03-BO21-J21L-916 Male Heterozygous CAUSAL W45 7 364 03-BO21-W09L-965 Male Heterozygous CAUSAL W45 9 365 03-VO12-L25D-963 Female Heterozygous CAUSAL W45 3 366 03-JO21-V01L-968 Female Heterozygous CAUSAL W45 9 367 03-BO21-J15E-956 Male Heterozygous CAUSAL W45 9 370 03-BO21-A12A-956 Male Heterozygous CAUSAL W45 9 385 03-MA18-I18E-951 Female Heterozygous CAUSAL 9 391 03-BO21-S01M-990 Male Heterozygous CAUSAL W45 9 396 03-MA18-R01P-002 Male Heterozygous CAUSAL W68 9 398 03-RO25-C08L-009 Female Heterozygous CAUSAL W45 9 411 03-BO21-A12E-000 Female Heterozygous CAUSAL W45 14 419 03-BO14-C12A-995 Female Heterozygous CAUSAL W224 14 420 03-BO14-E13M-997 Female Heterozygous CAUSAL W224 14 426 03-IG14-D01V-988 Male Heterozygous CAUSAL 9 1368 01-GO13-A24E-993 Male Heterozygous CAUSAL W199 14 1369 01-FI05-S01N-972 Female Heterozygous CAUSAL W199 4 1370 01-NE22-C12A-952 Female Heterozygous CAUSAL W199 14 1708 02-PE18-A18T-970 Male Heterozygous CAUSAL 9 1813 02-HO21-M09C-948 Female Heterozygous CAUSAL 14
p.Leu103ProfsX15	c.307_310delCTGT	2	103	Sm, NM		Small rearrangement	Fr.	Stop at 117	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 291 03-RO26-A14N-982 Female Heterozygous CAUSAL W252 0
p.Ser104ProfsX15	c.309delG	2	103	Sm, NM		Small rearrangement	Fr.	Stop at 118	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1320 01-BR21-J01C-950 Female Heterozygous CAUSAL 0
p.Tyr106ProfsX15	c.310_314dup	2	104	Sm, NM		Small rearrangement	Fr.	Stop at 120	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 377 03-LE02-A14N-949 Female Heterozygous CAUSAL W149 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.Arg108X	c.322C>T	2	108	Sm, NM		Small rearrangement	Ts	C->T	10
UMD_id Sample ID Gender Mutation status Variation class Family ID References 29 04-MA08-J05A-948 Male Heterozygous CAUSAL W1079 8 30 04-SI13-C08R-972 Female Heterozygous CAUSAL W1079 8 286 03-DE12-O03E-003 Female Heterozygous CAUSAL W28 8 287 03-DE12-B18I-000 Male Heterozygous CAUSAL W28 8 315 03-RO20-A21R-980 Female Heterozygous CAUSAL W28 3 350 03-DE12-K01R-982 Male Heterozygous CAUSAL W28 7 351 03-DE12-F18A-978 Male Heterozygous CAUSAL W28 7 360 03-DE12-S05R-953 Male Heterozygous CAUSAL W28 7 362 03-PO09-J15S-955 Female Heterozygous CAUSAL W28 7 375 03-DE12-J05A-929 Female Heterozygous CAUSAL W28 9
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.Gly111delinsGly	c.331_332dup	2	111	Sm, NM		Small rearrangement	Fr.	Ins	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 32 04-MU19-S05R-947 Male Heterozygous CAUSAL W160 3 33 04-MU19-J05A-942 Male Heterozygous CAUSAL W160 3 272 03-BE18-C08A-972 Female Heterozygous CAUSAL W160 3 273 03-BE18-C08R-001 Female Heterozygous CAUSAL W160 3 274 03-BE18-A14T-997 Male Heterozygous CAUSAL W160 3 304 03-MU19-M01G-972 Female Heterozygous CAUSAL W160 0
p.Val112CysfsX5	c.332dup	2	111	Sm, NM		Small rearrangement	Fr.	Stop at 116	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 306 03-MU07-E12I-951 Male Heterozygous CAUSAL W1037 0 345 03-RA22-Y22E-948 Male Heterozygous CAUSAL W42 0
p.Leu117delins9AA	c.349_350ins26	2	117	Sm, NM		Large rearrangement	Fr.	Ins	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 34 04-DO19-C09N-989 Female Heterozygous CAUSAL W227 0 1862 04-MU12-C01P-015 Female Heterozygous CAUSAL W227 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.Lys120del	c.358_360delAAG	2	120	Sm, NM		Small rearrangement	InF	In frame del	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 374 03-MA18-C08R-954 Female Heterozygous CAUSAL W1035 3 400 03-GO13-R09C-974 Male Heterozygous CAUSAL W2087 3 414 03-GO13-C05C-950 Female Heterozygous CAUSAL W2087 15 1811 02-GO13-A06O-965 Male Heterozygous CAUSAL W2087 11
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.Ile125MetfsX54	c.375_376delAT	2	125	Sm, NM		Small rearrangement	Fr.	Stop at 178	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 319 03-JO19-C08A-955 Female Heterozygous CAUSAL W114 9 320 03-JO19-S01B-983 Female Heterozygous CAUSAL W114 9 323 03-DE21-B05R-952 Male Heterozygous CAUSAL W114 9
p.Trp126X	c.378G>A	2	126	Sm, NM		Small rearrangement	Ts	G->A	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1358 01-DE19-P01T-953 Male Heterozygous CAUSAL W153 31 1359 03-DE19-S15P-989 Female Heterozygous CAUSAL W153 31 1360 03-DE19-C01R-991 Female Heterozygous CAUSAL W153 31 1457 01-VA14-C05D-979 Male Heterozygous CAUSAL 15
p.Ser130ArgfsX50	c.389dup	2	130	Sm, NM		Small rearrangement	Fr.	Stop at 179	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 376 03-MA09-C12A-951 Male Heterozygous CAUSAL W139 0 425 03-MA09-A07N-981 Female Heterozygous CAUSAL W139 0
p.Phe134LeufsX51	c.402delC	2	134	Sm, NM		Small rearrangement	Fr.	Stop at 184	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 35 04-SN25-B05N-977 Male Heterozygous CAUSAL 2
p.Ala138GlyfsX42	c.412dup	2	138	Sm, NM		Small rearrangement	Fr.	Stop at 179	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1425 01-PA18-N09C-984 Male Heterozygous CAUSAL 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.His139ThrfsX46	c.415delC	2	139	Ju, Sm, NM		Small rearrangement	Fr.	Stop at 184	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 38 04-MU12-N01T-989 Male Heterozygous CAUSAL W2088 9 39 04-MU12-H01R-959 Male Heterozygous CAUSAL W2088 9 279 03-SC08-C12E-989 Female Heterozygous CAUSAL W117 9 340 03-SC08-L09S-982 Female Heterozygous CAUSAL W117 9 343 03-SC08-M09C-950 Male Heterozygous CAUSAL W117 9
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
	c.431_432delinsAA	2	145	Ju, Sm,NM,HD		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1780 02-BO14-J05A-942 Male Heterozygous CAUSAL 27
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.Ile147_Ile147del	c.440_442delTCA	2	147	Ju, Sm,NM,HD		Small rearrangement	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 402 03-BE01-G05R-008 Female Heterozygous UV 20 1936 04-MO11-K01-964 Female CAUSAL 0
p.Thr150HisfsX12	c.446_1185del	2-3	149	Ju, Sm,NM,HD		Large rearrangement Deletion from exon 3 to 8	Fr.	Stop at 161	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1498 03-AT18-H05L-959 Female Heterozygous CAUSAL 0
p.Gly149fsX49	c.446_1833del	2-3	149	Ju, Sm,NM,HD		Large rearrangement Deletion from exon 3 to 10	Fr.	Stop at 197	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1482 03-BA21-F01B-Y22O-936 Female Heterozygous CAUSAL W24 0
p.Thr150HisfsX11	c.446_912del	2-3	149	Ju, Sm,NM,HD		Large rearrangement Deletion from exon 3 to 6	Fr.	Stop at 160	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1487 03-SE18-M01R-954 Female Heterozygous CAUSAL W2047 0 1488 03-SE18-O12I-978 Male Heterozygous CAUSAL W2047 0
	c.IVS2+11A>G (c.445+11A>G)	2-3	149			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1934 01-DE02-M09-961 Female UV 0
	c.IVS2+73G>C (c.445+73G>C)	2-3	149	Ju, Sm,NM,HD		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1619 02-GU09-V01L-969 Female Heterozygous LIKELY NEUTRAL 0
	c.IVS2-3C>G (c.446-3C>G)	2-3	149	Ju, Sm,NM,HD		Small rearrangement	Tv	C->G	14
UMD_id Sample ID Gender Mutation status Variation class Family ID References 429 03-LE15-R15B-951 Male Heterozygous CAUSAL W119 21 430 03-BO21-C08R-976 Female Heterozygous CAUSAL W119 21 432 03-ME14-J05A-942 Male Heterozygous CAUSAL W119 21 433 03-MA04-N05L-947 Female Heterozygous CAUSAL W119 21 434 03-LE15-B18U-966 Male Heterozygous CAUSAL W119 21 435 03-MA04-G21L-982 Male Heterozygous CAUSAL W119 21 436 03-WE19-V05R-963 Female Heterozygous CAUSAL W2064 21 437 03-LE15-B05N-996 Male Heterozygous CAUSAL W119 21 438 03-MA04-L09L-009 Female Heterozygous CAUSAL W119 21 439 03-LE15-M01R-994 Female Heterozygous CAUSAL W119 21 440 03-MA04-N14A-005 Male Heterozygous CAUSAL W119 21 1583 02-ME14-J05A-942 Male Heterozygous CAUSAL W119 0 1869 04-WE19-E12O-994 Female Heterozygous CAUSAL W2064 21 1870 04-WE19-R15M-991 Male Heterozygous CAUSAL W2064 21
p.Lys151AsnfsX28	c.453_454delAT	3	151	Ju, Sm,NM,HD		Small rearrangement	Fr.	Stop at 178	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1511 02-MA18-E12E-984 Female Heterozygous CAUSAL W171 0 1512 02-MA18-S05R-945 Male Heterozygous CAUSAL W171 0 1513 02-MA18-V01L-982 Female Heterozygous CAUSAL W171 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.Gly169ValfsX16	c.504delG	3	168	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 184	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1785 02-CA18-P01T-979 Male Heterozygous 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.Glu179X	c.534dup	3	178	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 179	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 459 03-DI18-S01N-961 Female Heterozygous CAUSAL W203 0 1394 01-JA19-N09C-943 Female Heterozygous CAUSAL W203 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.Phe186_Gly187del	c.556_561del	3	186	Ju,Sm,NMH,HD,NM		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 505 03-CO03-N01T-969 Female Heterozygous CAUSAL 0
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
	c.570_571delinsC	3	190	Ju,Sm,NMH,HD,NM		Small rearrangement	indels	indels	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 44 04-ZA14-M01R-942 Male Heterozygous CAUSAL W1069 0 45 04-AB18-EI21-003 Female Heterozygous CAUSAL W1069 0 1871 04-AB18-R15B-009 Male Heterozygous CAUSAL W1069 0
	c.570_571delinsC	3	190	Ju,Sm,NMH,HD,NM		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 54 04-DE12-J05A-962 Male Heterozygous CAUSAL W1069 0
p.Gln192X	c.574C>T	3	192	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 470 03-CU09-C08R-965 Male Heterozygous CAUSAL W233 13
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.Glu195ThrfsX21	c.582_606del	3	194	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 215	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 48 04-LE03-D05N-969 Male Heterozygous CAUSAL 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.Thr197del	c.589_591delACC	3	197	Ju,Sm,NMH,HD,NM		Small rearrangement	InF	In frame del	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 474 03-RE07-S01N-977 Female Heterozygous CAUSAL W60 7 482 03-RE07-G21Y-953 Male Heterozygous CAUSAL W60 7 486 03-RE07-J01C-950 Male Heterozygous CAUSAL W60 9 490 03-RE07-M09C-945 Male Heterozygous CAUSAL W60 9 491 03-RE07-K18I-981 Male Heterozygous CAUSAL W60 9
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.Lys201ThrfsX24	c.600_601dup	3	200	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 224	15
UMD_id Sample ID Gender Mutation status Variation class Family ID References 442 03-DU03-M01R-960 Female Heterozygous CAUSAL W83 9 443 03-JO19-I19A-958 Female Heterozygous CAUSAL W83 9 453 03-BA19-K05N-993 Male Heterozygous CAUSAL W83 9 454 03-BA19-K05L-991 Female Heterozygous CAUSAL W83 9 455 03-BA19-V05R-963 Female Heterozygous CAUSAL W83 9 464 03-NI12-L21D-970 Male Heterozygous CAUSAL W95 0 465 03-NI12-P09E-944 Male Heterozygous CAUSAL W95 0 466 03-GR05-F01B-982 Male Heterozygous CAUSAL W83 9 469 03-BR01-J05A-947 Male Heterozygous CAUSAL W83 9 472 03-BR01-K01R-977 Female Heterozygous CAUSAL W83 9 479 03-DU03-A14D-938 Female Heterozygous CAUSAL W83 9 515 03-DE19-F18A-971 Male Heterozygous CAUSAL W95 9 516 03-SU02-A14G-988 Female Heterozygous CAUSAL W83 9 519 03-SU02-C08R-966 Female Heterozygous CAUSAL W83 9 521 03-GR05-G05O-940 Male Heterozygous CAUSAL W83 9
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.Asn203LysfsX21	c.609delC	3	203	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 223	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1877 04-CA22-C15R-972 Female Heterozygous CAUSAL 13
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.Gly208AlafsX16	c.623delG	3	208	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 223	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 57 04-BA21-C08R-979 Female Heterozygous CAUSAL W2065 10 1872 04-BA21-R21B-011 Female Heterozygous CAUSAL W2065 10
p.Gln209SerfsX7	c.625_629delCAGAC	3	209	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 215	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 526 03-DU13-C05L-978 Female Heterozygous CAUSAL 0
p.Thr210SerfsX13	c.628_631delACAG	3	210	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 222	34
UMD_id Sample ID Gender Mutation status Variation class Family ID References 58 04-TI19-C09N-980 Female Heterozygous CAUSAL W2066 11 59 04-DA03-B05N-000 Male Heterozygous CAUSAL W2066 11 60 04-DA03-B18A-007 Male Heterozygous CAUSAL W2066 11 61 04-GA04-E12O-983 Female Heterozygous CAUSAL W2066 11 62 04-GA04-L21C-993 Female Heterozygous CAUSAL W2066 11 63 04-GO13-S25V-972 Female Heterozygous CAUSAL W2066 11 64 04-HE18-C01R-962 Female Heterozygous CAUSAL W2066 11 65 04-HE18-A14N-964 Male Heterozygous CAUSAL W2066 11 66 04-HE18-A21R-993 Male Heterozygous CAUSAL W2066 11 67 04-HE18-M01R-965 Female Heterozygous CAUSAL W2066 11 68 04-HE18-J21A-956 Male Heterozygous CAUSAL W2066 11 69 04-LA14-J15S-954 Male Heterozygous CAUSAL W2066 11 70 04-TH05-E19T-977 Female Heterozygous CAUSAL W2066 11 71 04-VI04-E14Z-011 Male Heterozygous CAUSAL W2066 11 475 03-RO25-J05A-971 Male Heterozygous CAUSAL W176 13 476 03-LA18-A14N-947 Female Heterozygous CAUSAL W105 13 477 03-VE18-C05L-978 Female Heterozygous CAUSAL W107 13 478 03-GO13-B05R-971 Male Heterozygous CAUSAL W126 13 485 03-RO25-A07N-962 Female Heterozygous CAUSAL W176 15 495 03-VE18-C08A-954 Female Heterozygous CAUSAL W107 15 499 03-RO25-J05A-939 Male Heterozygous CAUSAL W176 15 502 03-MO09-G05R-954 Male Heterozygous CAUSAL W2089 15 503 03-MO09-M01U-996 Female Heterozygous CAUSAL W2089 15 509 03-MO09-F12A-991 Female Heterozygous CAUSAL W2089 15 512 03-BE01-D01V-983 Male Heterozygous CAUSAL 15 513 03-RO25-N01T-002 Male Heterozygous CAUSAL W176 15 1343 01-CO21-N09C-983 Male Heterozygous CAUSAL W183 13 1406 01-LE16-S01N-969 Female Heterozygous CAUSAL 0 1411 01-MA18-A21D-985 Female Heterozygous CAUSAL 27 1420 01-MA26-O12I-967 Male Heterozygous CAUSAL W2060 0 1448 01-RO07-A18N-974 Male Heterozygous CAUSAL 0 1587 02-HE18-J05A-956 Male Heterozygous CAUSAL W2074 21 1588 02-HE18-B05N-988 Male Heterozygous CAUSAL W2074 21 1614 02-BA18-Y22E-964 Male Heterozygous CAUSAL W204 15
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.Ala213ProfsX11	c.637delG	3	213	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 223	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 460 03-DO19-S01B-991 Female Heterozygous CAUSAL W195 0 471 03-DO19-A18S-964 Male Heterozygous CAUSAL W195 0 1364 01-DO19-R15S-967 Female Heterozygous CAUSAL W195 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
	c.IVS3+18INS c (c.654+18INS c)	3	218	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	INS c	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 552 03-DI13-V01L-988 Female Heterozygous UV 0
	c.IVS3+1G>A (c.654+1G>A)	3	218			Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 496 03-LE04-V05R-968 Female Heterozygous CAUSAL W1000 45 1842 02-SR09-S21G-981 Female Heterozygous CAUSAL 45
	c.IVS3+41A>G (c.654+41A>G)	3	218			Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1851 01-MO18-M01R-953 Female Heterozygous LIKELY NEUTRAL 0
	c.IVS3+48C>T (c.654+48C>T)	3	218	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 74 04-CA20-J21L-990 Female Heterozygous LIKELY NEUTRAL 0
	c.IVS3+82C>T (c.654+82C>T)	3	218			Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1897 04-GO14-M05L-991 Female Heterozygous LIKELY NEUTRAL 0 551 03-VA12-C12A-964 Female Heterozygous LIKELY NEUTRAL 0
p.Ser219fsX4	c.655_1833del	4	219	Ju,Sm,NM,NMH,FA,HD		Large rearrangement Deletion from exon 4 to 10	InF	Stop at 222	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1484 03-ZI20-S08A-951 Female Heterozygous CAUSAL W2046 0 1497 03-ZI20-A21R-991 Female Heterozygous CAUSAL W2046 0
	c.IVS3-1delinsTT (c.655-1delinsTT)	4	219			Small rearrangement	Tv	delinsTT	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1516 02-DE12-L01U-964 Female Heterozygous CAUSAL W2006 23 1518 02-BO21-G05O-936 Male Heterozygous CAUSAL W2006 23
	c.IVS3-1G>T (c.655-1G>T)	4	219	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 554 03-MA20-H21B-938 Male Heterozygous CAUSAL 23
	c.IVS3-22Del12 (c.655-22Del12)	4	219			Small rearrangement	Tv	Del12	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 543 03-RO14-A14N-938 Female Heterozygous Mutation 0
	c.IVS3-2A>G (c.655-2A>G)	4	219	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 75 04-BO21-Y14E-999 Female Heterozygous LIKELY CAUSAL W2097 0 76 04-BO21-A02D-977 Male Heterozygous LIKELY CAUSAL W2097 0
	c.IVS3-3A>G (c.655-3A>G)	4	219	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	A->G	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 538 03-LE22-B05N-982 Male Heterozygous CAUSAL W55 3 539 03-LE22-N01T-983 Female Heterozygous CAUSAL W55 3 540 03-LE22-F18A-974 Male Heterozygous CAUSAL W55 3 542 03-LE22-G01B-008 Male Heterozygous CAUSAL W55 3 544 03-LE22-A12A-956 Female Heterozygous CAUSAL W55 3 548 03-GU18-S01C-007 Male Heterozygous CAUSAL W55 3
	c.IVS3-4Del (c.655-4Del)	4	219			Small rearrangement	Tv	Del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1966 03-DU02-A21-971 Female UV 0
	c.IVS3-5C>G (c.655-5C>G)	4	219	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 532 03-TR01-D01O-962 Male Heterozygous UV 0
	c.IVS3-64T>G (c.655-64T>G)	4	219	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Tv	T->G	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 531 03-CA22-I19A-958 Female Heterozygous LIKELY NEUTRAL W1109 0 535 03-VE12-J05A-945 Female Heterozygous LIKELY NEUTRAL W1011 0 541 03-RO04-J05A-943 Male Heterozygous LIKELY NEUTRAL W1005 0 550 03-CA22-R01P-984 Male Heterozygous LIKELY NEUTRAL W1109 0 553 03-DO21-C12A-935 Female Heterozygous LIKELY NEUTRAL 0 1879 04-CO13-S20E-983 Female Heterozygous LIKELY NEUTRAL 0
	c.IVS3-6C>A (c.655-6C>A)	4	219	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Tv	C->A	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 79 04-DU22-E19T-976 Female Heterozygous UV W2091 13 80 04-DU22-A14D-943 Female Heterozygous UV W2091 13 81 04-FR01-Z05F-011 Male Heterozygous UV W2090 13 82 04-FR01-M01R-976 Female Heterozygous UV W2090 13 83 04-FR01-F05R-947 Female Heterozygous UV W2090 13 84 04-FR01-A14A-974 Female Heterozygous UV W2090 13 1645 02-GE18-G12A-994 Female Heterozygous UV 13
	c.IVS3-6C>T (c.655-6C>T)	4	219	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	C->T	22
UMD_id Sample ID Gender Mutation status Variation class Family ID References 77 04-CR05-M01R-974 Female Heterozygous LIKELY CAUSAL 12 78 04-DI15-N01B-976 Male Heterozygous LIKELY CAUSAL 12 85 04-MO25-O12G-990 Female Heterozygous LIKELY CAUSAL 12 1852 01-PA20-A14N-000 Female Heterozygous LIKELY CAUSAL 12 529 03-LU26-M21A-964 Female Heterozygous LIKELY CAUSAL W1100 12 530 03-LA25-T01N-961 Female Heterozygous LIKELY CAUSAL W1137 12 533 03-AL09-A04E-000 Female Heterozygous LIKELY CAUSAL 12 534 03-MA18-N09C-958 Female Heterozygous LIKELY CAUSAL W150 12 536 03-CA18-L09S-951 Female Heterozygous LIKELY CAUSAL W150 12 537 03-CA18-T08E-933 Female Heterozygous LIKELY CAUSAL W150 12 545 03-JA12-F05L-963 Male Heterozygous LIKELY CAUSAL W2009 12 546 03-JA12-C08L-992 Female Heterozygous LIKELY CAUSAL W2009 12 547 03-JA12-O12I-990 Female Heterozygous LIKELY CAUSAL W2009 3 549 03-JU19-C12A-947 Female Heterozygous LIKELY CAUSAL 12 555 03-DJ05-N01D-962 Female Heterozygous LIKELY CAUSAL 3 556 03-LU26-C12A-990 Female Heterozygous LIKELY CAUSAL W1100 3 1607 02-FI19-E12I-980 Female Heterozygous LIKELY CAUSAL 3 1907 02-GE04-J15S-954 Male Heterozygous LIKELY CAUSAL W2036 7 1670 02-LA23-D05D-958 Female Heterozygous LIKELY CAUSAL 12 1679 02-LO21-G08I-988 Female Heterozygous LIKELY CAUSAL 3 1791 02-CU22-J15S-947 Female Heterozygous LIKELY CAUSAL 3 1823 02-MA14-F18A-955 Female Heterozygous LIKELY CAUSAL 3
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.Leu223X	c.667delC	4	223	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 223	12
UMD_id Sample ID Gender Mutation status Variation class Family ID References 560 03-RA02-N15E-004 Female Heterozygous CAUSAL W27 3 561 03-RA02-L21C-002 Male Heterozygous CAUSAL W27 3 568 03-ME18-E04W-958 Female Heterozygous CAUSAL W27 3 573 03-ME18-A14T-988 Male Heterozygous CAUSAL W27 9 575 03-GUO9-D01N-948 Male Heterozygous CAUSAL W27 3 580 03-RA02-S20E-975 Male Heterozygous CAUSAL W27 3 602 03-BR15-S25L-971 Female Heterozygous CAUSAL W27 3 603 03-GU09-B05R-947 Male Heterozygous CAUSAL W27 3 604 03-GU09-D01V-973 Male Heterozygous CAUSAL W27 3 605 03-GU09-H05L-978 Female Heterozygous CAUSAL W27 3 606 03-RA02-C08R-951 Female Heterozygous CAUSAL W27 3 1553 02-MO18-S15P-968 Female Heterozygous CAUSAL 3
p.Leu223ArgfsX58	c.668delT	4	223	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 280	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 586 03-TO18-O04E-925 Female Heterozygous CAUSAL W16 9 587 03-TO18-R05N-943 Female Heterozygous CAUSAL W16 9 588 03-WA18-C08R-985 Male Heterozygous CAUSAL W16 9 589 03-WA18-D05N-952 Female Heterozygous CAUSAL W16 9 590 03-LE02-C12A-955 Female Heterozygous CAUSAL W16 9 591 03-BO14-J05A-958 Male Heterozygous CAUSAL W16 9 1609 02-WA18-C08L-006 Female Heterozygous CAUSAL W16 9
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.Ser226X	c.677C>G	4	226	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Tv	C->G	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 585 03-RO21-R05J-937 Female Heterozygous CAUSAL W158 14 1439 01-PO18-S20E-974 Female Heterozygous CAUSAL W158 14 1440 01-PO18-P01T-950 Male Heterozygous CAUSAL W158 14 1441 01-PO18-Y15L-930 Female Heterozygous CAUSAL W158 14 1442 01-PO18-B05A-947 Female Heterozygous CAUSAL W158 14 1443 01-PO18-M01R-972 Female Heterozygous CAUSAL W158 14
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.Met239HisfsX2	c.711_733del	4	237	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 240	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 608 03-PI03-J01C-941 Male Heterozygous CAUSAL W2010 0 609 03-BO21-M01X-003 Male Heterozygous CAUSAL w31 0 610 03-PI03-K01R-975 Female Heterozygous CAUSAL W2010 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.Ile247HisfsX2	c.737dup	4	246	Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 248	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 88 04-DE22-S01N-985 Female Heterozygous CAUSAL W1089 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.Ser253X	c.758C>A	4	253	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	C->A	17
UMD_id Sample ID Gender Mutation status Variation class Family ID References 559 03-FA09-J21L-984 Male Heterozygous CAUSAL W92 9 564 03-FI12-V05R-965 Female Heterozygous CAUSAL W1003 14 576 03-FA09-I19A-966 Female Heterozygous CAUSAL W92 3 577 03-DE12-T08I-992 Male Heterozygous CAUSAL W92 3 581 03-BA12-S25L-984 Female Heterozygous CAUSAL W92 3 582 03-BU18-A14N-945 Female Heterozygous CAUSAL W92 3 583 03-BA12-D09D-962 Male Heterozygous CAUSAL W92 9 584 03-BA12-A04R-984 Male Heterozygous CAUSAL W92 3 593 03-FA09-J05A-955 Male Heterozygous CAUSAL W92 14 594 03-BO21-C08R-942 Female Heterozygous CAUSAL W92 14 596 03-DE12-M01R-964 Female Heterozygous CAUSAL W92 14 597 03-WA20-D01N-951 Female Heterozygous CAUSAL W92 14 598 03-FA09-D05N-954 Male Heterozygous CAUSAL W92 14 599 03-BA12-G09N-940 Female Heterozygous CAUSAL W92 14 600 03-FA09-S21Z-927 Female Heterozygous CAUSAL W92 14 607 03-FA09-C12E-981 Male Heterozygous CAUSAL W92 14 611 03-TO21-L09N-009 Female Heterozygous CAUSAL W92 14
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.Leu254ArgfsX27	c.761delT	4	254	Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 280	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 565 03-FE18-N09C-979 Male Heterozygous CAUSAL W1041 0 1416 01-MA26-S25L-981 Female Heterozygous CAUSAL 0
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.Leu259AlafsX11	c.773dup	4	258	Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 269	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 569 03-GA21-N01T-979 Female Heterozygous CAUSAL W185 0 570 03-JU14-J01C-939 Male Heterozygous CAUSAL W185 0 615 03-LA12-M01R-959 Female Heterozygous CAUSAL 0
p.Leu259ArgfsX22	c.776delT	4	259	Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 280	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1367 01-FA07-S01B-981 Female Heterozygous CAUSAL 0
p.Gln260X	c.778C>T	4	260	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1682 02-MA20-D01L-984 Female Heterozygous CAUSAL 2
p.Gln261X	c.781C>T	4	261	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 557 03-PA17-A25M-979 Male Heterozygous CAUSAL W178 9 558 03-PA17-S05R-976 Female Heterozygous CAUSAL W178 9 595 03-WA12-S25L-969 Female Heterozygous CAUSAL W33 0
	c.IVS4+1G>A (c.783+1G>A)	4	261	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 89 04-IB01-F12O-977 Female Heterozygous CAUSAL W2092 5 90 04-IB01-F12O-000 Male Heterozygous CAUSAL W2092 5 91 04-MU18-A12A-947 Male Heterozygous CAUSAL W2092 5
	c.IVS4+1G>T (c.783+1G>T)	4	261	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	G->T	37
UMD_id Sample ID Gender Mutation status Variation class Family ID References 620 03-GU05-T08O-004 Male Heterozygous CAUSAL W31 7 624 03-RO03-J15S-934 Male Heterozygous CAUSAL W31 7 625 03-GU05-D15M-964 Male Heterozygous CAUSAL W31 7 626 03-BO21-T08E-937 Female Heterozygous CAUSAL W31 7 627 03-GU05-F05R-956 Male Heterozygous CAUSAL W31 7 628 03-JO12-E18I-976 Male Heterozygous CAUSAL W31 7 629 03-GU05-C25R-983 Male Heterozygous CAUSAL W31 7 630 03-RO03-D01M-988 Male Heterozygous CAUSAL W31 7 631 03-CA04-Y22E-963 Male Heterozygous CAUSAL W31 7 632 03-CA04-O12I-976 Male Heterozygous CAUSAL W31 7 633 03-BR15-C05L-982 Female Heterozygous CAUSAL W31 7 635 03-BO21-V09R-980 Female Heterozygous CAUSAL W31 7 636 03-BO21-S15P-978 Female Heterozygous CAUSAL W31 7 637 03-GU09-M09R-949 Female Heterozygous CAUSAL W31 7 639 03-BO19-S25L-970 Female Heterozygous CAUSAL W31 7 640 03-DE14-M01R-961 Female Heterozygous CAUSAL W31 7 641 03-GU05-M09C-944 Male Heterozygous CAUSAL W31 7 642 03-PO20-S15N-972 Female Heterozygous CAUSAL W31 7 643 03-GU05-C12A-937 Male Heterozygous CAUSAL W31 7 644 03-GU05-C08R-968 Male Heterozygous CAUSAL W31 7 645 03-BR15-N01D-960 Female Heterozygous CAUSAL W31 7 646 03-BO21-E12I-942 Female Heterozygous CAUSAL W31 7 647 03-BU12-L01U-972 Male Heterozygous CAUSAL W31 7 648 03-BU12-J05A-975 Male Heterozygous CAUSAL W31 7 649 03-RO03-G09L-957 Male Heterozygous CAUSAL W31 7 650 03-MO18-D01N-951 Female Heterozygous CAUSAL W31 7 651 03-GU05-Y01N-960 Male Heterozygous CAUSAL W31 7 652 03-GU09-E12O-972 Female Heterozygous CAUSAL W31 7 653 03-GU09-H21G-952 Female Heterozygous CAUSAL W31 7 654 03-MO18-D15M-969 Male Heterozygous CAUSAL W31 7 657 03-RO03-B05R-964 Male Heterozygous CAUSAL W31 3 1291 01-BA26-N15A-009 Male Heterozygous CAUSAL W31 3 1292 01-AV18-A16P-996 Female Heterozygous CAUSAL W31 3 1293 01-AV18-E12I-000 Female Heterozygous CAUSAL W31 3 1294 01-PO20-M01R-997 Male Heterozygous CAUSAL W31 3 1295 01-DE14-Z15E-000 Female Heterozygous CAUSAL W31 3 1296 01-MO18-C12E-000 Female Heterozygous CAUSAL W31 3
	c.IVS4-15Del2 (c.784-15Del2)	5	262			Small rearrangement	Tv	Del2	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1980 01-DU10-A04-992 Female LIKELY NEUTRAL W2022-12 0
	c.IVS4-15DelTC (c.784-15DelTC)	5	262	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	DelTC	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 92 04-LE07-J01C-928 Female Heterozygous UV 13 658 03-DE02-I19A-971 Female Heterozygous UV 13 661 03-BO21-J21L-995 Male Heterozygous UV W2012 0 663 03-BO21-L01U-967 Female Heterozygous UV W2012 24
	c.IVS4-1G>C (c.784-1G>C)	5	262	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 431 03-LA08-A02D-959 Male Heterozygous CAUSAL W1010 7 638 03-AS01-M01R-964 Female Heterozygous CAUSAL W111 7
	c.IVS4-20DelCT (c.784-20DelCT)	5	262	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	DelCT	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 664 03-CO12-M01R-968 Female Heterozygous UV 0
	c.IVS4-49C>T (c.784-49C>T)	5	262			Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1903 02-MA18-J01X-958 Heterozygous NEUTRAL 0
	c.IVS4-9G>A (c.784-9G>A)	5	262	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	10
UMD_id Sample ID Gender Mutation status Variation class Family ID References 634 03-CU19-E04D-975 Male Heterozygous CAUSAL W57 24 655 03-E12I-P09E-957 Male Heterozygous CAUSAL W57 24 656 03-LE02-F18A-966 Male Heterozygous CAUSAL W1002 24 659 03-OR09-G05O-990 Female Heterozygous CAUSAL W2011 24 660 03-NO18-L09N-957 Female Heterozygous CAUSAL W2011 24 662 03-CU19-M01R-953 Female Heterozygous CAUSAL W57 24 1321 01-BR21-J05A-943 Male Heterozygous CAUSAL 27 1365 01-EL09-K05V-987 Male Heterozygous CAUSAL W57 28 1769 02-AB09-C12A-000 Female Heterozygous CAUSAL 13 1782 02-BO21-E12I-955 Female Heterozygous CAUSAL 13
p.Trp265X	c.794G>A	5	265	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1323 01-BU09-S20E-975 Female Heterozygous CAUSAL W1066 0 1324 01-BU18-D15M-950 Female Heterozygous CAUSAL W1066 0
p.Trp265X	c.795G>A	5	265	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 666 03-LA16-S20E-968 Male Heterozygous CAUSAL W1015 12 667 03-LA16-J01M-939 Male Heterozygous CAUSAL W1015 12 670 03-BO21-M01R-956 Female Heterozygous CAUSAL W79 12 671 03-GU09-D15M-961 Male Heterozygous CAUSAL W79 24 672 03-GU09-P01U-932 Male Heterozygous CAUSAL W79 12 681 03-LA16-L01U-001 Female Heterozygous CAUSAL W1015 12
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.His272ProfsX45	c.814dup	5	272	Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 316	13
UMD_id Sample ID Gender Mutation status Variation class Family ID References 665 03-LU18-M01R-996 Female Heterozygous CAUSAL W59 3 668 03-DU02-D15R-001 Male Heterozygous CAUSAL W59 3 669 03-DU02-F12O-994 Female Heterozygous CAUSAL W59 3 673 03-DU02-F18A-964 Male Heterozygous CAUSAL W59 3 674 03-M012-C25R-978 Male Heterozygous CAUSAL W59 9 675 03-LU18-S15P-970 Female Heterozygous CAUSAL W59 9 676 03-MO12-M01R-956 Female Heterozygous CAUSAL W59 9 677 03-HA13-M09C-972 Male Heterozygous CAUSAL W59 9 678 03-DU02-E20I-969 Male Heterozygous CAUSAL W59 9 679 03-ME18-M01R-947 Female Heterozygous CAUSAL W59 9 682 03-DU02-M01X-001 Male Heterozygous CAUSAL W59 3 1390 01-HA13-M09C-945 Male Heterozygous CAUSAL W59 9 1391 01-HA13-M01R-944 Female Heterozygous CAUSAL W59 9
p.Leu273TrpfsX8	c.816delT	5	272	Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 280	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 680 03-CH01-A14N-946 Female Heterozygous CAUSAL W1042 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
	c.IVS5+27C>T (c.824+27C>T)	5-6	275	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1593 02-KI22-M01R-970 Female Heterozygous LIKELY NEUTRAL 0
	c.IVS5+5G>A (c.824+5G>A)	5-6	275	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	10
UMD_id Sample ID Gender Mutation status Variation class Family ID References 100 04-BO25-M01R-951 Female Heterozygous CAUSAL 0 683 03-MA21-R15M-992 Male Heterozygous CAUSAL W30 0 685 03-GR09-R05N-942 Male Heterozygous CAUSAL W30 0 686 03-GR09-J05A-974 Male Heterozygous CAUSAL W30 0 687 03-GR09-P09E-940 Male Heterozygous CAUSAL W30 0 688 03-GR09-M09C-946 Female Heterozygous CAUSAL W30 0 689 03-MA21-P01T-960 Male Heterozygous CAUSAL W30 0 690 03-MA21-G09N-936 Female Heterozygous CAUSAL W30 0 696 03-MA21-M01R-936 Female Heterozygous CAUSAL W30 0 1319 01-BR01-C12A-943 Male Heterozygous CAUSAL 0
	c.IVS5-14T>C (c.825-14T>C)	5-6	275			Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1944 04-AD14-M01-974 Male UV 0
	c.IVS5-1G>C (c.825-1G>C)	5-6	275	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1362 01-DE12-C08O-011 Female Heterozygous CAUSAL W1090 7 1363 01-DI05-D05L-985 Female Heterozygous CAUSAL W1090 6
	c.IVS5-22DelCT (c.825-22DelCT)	5-6	275			Small rearrangement	Tv	DelCT	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1853 01-FE18-I19A-000 Female Heterozygous UV 0
	c.IVS5-35INS G (c.825-35INS G)	5-6	275	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	INS G	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 97 04-KL09-A14N-928 Female Heterozygous LIKELY NEUTRAL W2099 0 98 04-ZI20-M000-947 Male Heterozygous LIKELY NEUTRAL W2099 0 99 04-ZI20-E22Z-973 Male Heterozygous LIKELY NEUTRAL W2099 0
	c.IVS5-41C>T (c.825-41C>T)	5-6	275	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 694 03-MI04-M01R-945 Female Heterozygous LIKELY NEUTRAL W1006 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.His303GlnfsX13	c.909_910delCA	6	303	Pem,NM,RP,NMH,FA,HD		Small rearrangement	Fr.	Stop at 315	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1602 02-LO14-G21Y-982 Male Heterozygous CAUSAL W194 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
	c.IVS6+1G>A (c.912+1G>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 709 03-TH05-J05A-955 Male Heterozygous CAUSAL 15
	c.IVS6+1G>T (c.912+1G>T)	6	304	Pem,NM,RP,NMH,FA,HD		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 710 03-TO02-S21Z-968 Female Heterozygous CAUSAL W1062 0
	c.IVS6+23C>T (c.912+23C>T)	6	304	Pem,NM,RP,NMH,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 708 03-OG18-N09C-941 Female Heterozygous UV W1008 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
	c.IVS6-1G>A (c.913-1G>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 109 04-CE12-A14N-978 Female Heterozygous CAUSAL 0 707 03-RI22-M01R-958 Female Heterozygous CAUSAL W1012 0
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.Tyr312ThrfsX56	c.933delC	7	311	NF,NM,RP,FA,HD		Small rearrangement	Fr.	Stop at 367	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 755 03-ME02-N15R-975 Female Heterozygous CAUSAL W1043 0 757 03-ME02-S05B-976 Male Heterozygous CAUSAL W1043 0
p.Tyr313X	c.939T>G	7	313	NF,NM,RP,FA,HD		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 758 03-ST09-M25R-958 Female Heterozygous CAUSAL W115 14 774 03-CH01-L01U-985 Female Heterozygous CAUSAL W115 14
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.Asp315GlufsX2	c.944dup	7	315	NF,NM,RP,FA,HD		Small rearrangement	Fr.	Stop at 316	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 744 03-CO18-M01R-949 Female Heterozygous CAUSAL W1045 9
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.Tyr319X	c.957C>A	7	319	NF,NM,RP,FA,HD		Small rearrangement	Tv	C->A	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 121 04-AR09-C05C-969 Female Heterozygous CAUSAL W1108 0 763 03-AU04-G05O-942 Male Heterozygous CAUSAL W2005 0 764 03-DE22-L09L-001 Female Heterozygous CAUSAL W2017 0 767 03-DE22-A13A-974 Female Heterozygous CAUSAL W2017 0 776 03-AU04-P09E-938 Male Heterozygous CAUSAL W2005 0 1573 02-FO21-A18N-966 Female Heterozygous CAUSAL W2014 0 1574 02-FO21-G09L-930 Male Heterozygous CAUSAL W2014 0
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.Tyr321X	c.963C>A	7	321	NF,NM,RP,FA,HD		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 760 03-SO13-M09C-958 Female Heterozygous CAUSAL 0
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.Tyr323X	c.969C>A	7	323	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 723 03-HA13-M01R-939 Female Heterozygous CAUSAL W145 17 727 03-VA18-L01U-964 Female Heterozygous CAUSAL W1017 17 761 03-LE09-M01R-992 Female Heterozygous CAUSAL 17 765 03-ME22-F18A-982 Female Heterozygous CAUSAL 17 1534 02-PE18-D15L-969 Female Heterozygous CAUSAL W2020 17 1535 02-PE18-J01C-948 Female Heterozygous CAUSAL W2020 17 1536 02-GE19-E22E-957 Female Heterozygous CAUSAL W2020 17
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.Tyr327X	c.981C>A	7	327	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 123 04-PO16-L21C-972 Female Heterozygous CAUSAL W1016 0 124 04-PO16-S01V-940 Male Heterozygous CAUSAL W1016 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.Arg335_Leu338del	c.1004_1015del	7	335	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1921 04-LA02-A14-988 Male LIKELY CAUSAL 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.Ala340ProfsX28	c.1018delG	7	340	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Fr.	Stop at 367	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 713 Male Heterozygous CAUSAL W267 0 714 03-MO14-C08R-957 Male Heterozygous CAUSAL W267 0
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.Thr344delinsThrAlaThr	c.1032_1037dup	7	344	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Fr.	In frame ins	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1923 04-VA14-E13-965 Female LIKELY CAUSAL 0 1880 04-VA14-E13I-965 Female Heterozygous LIKELY 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.Thr346SerfsX20	c.1037_1038delCT	7	346	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Fr.	Stop at 365	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 754 03-AO21-Y15U-946 Male Heterozygous CAUSAL W1044 0
p.Gln349X	c.1045C>T	7	349	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 711 03-PE18-J05A-954 Male Heterozygous CAUSAL W246 3 749 03-AR18-O12I-971 Male Heterozygous CAUSAL W132 15 750 03-AR18-J05A-946 Male Heterozygous CAUSAL W132 15 771 03-EU04-F18A-943 Male Heterozygous CAUSAL W275 3 772 03-LE03-M01R-969 Female Heterozygous CAUSAL 3 773 03-PE18-A21D-984 Female Heterozygous CAUSAL W246 3 775 03-PE18-R15L-950 Male Heterozygous CAUSAL W246 3
p.Gln349ThrfsX17	c.1045_1051del	7	349	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Fr.	Stop at 365	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 712 03-NO05-F18E-970 Male Heterozygous CAUSAL W236 0 752 03-NO05-J01C-945 Male Heterozygous CAUSAL W236 0
	c.IVS7+10C>T (c.1049+10C>T)	7-8	350	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 1339 01-CH01-J05S-982 Female Heterozygous UV 0 1973 04-LA13-C08-993 Female LIKELY NEUTRAL 0
	c.IVS7+1G>A (c.1049+1G>A)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	G->A	9
UMD_id Sample ID Gender Mutation status Variation class Family ID References 782 03-ME18-F18A-955 Male Heterozygous CAUSAL W118 6 777 03-AU20-R15L-955 Male Heterozygous CAUSAL W260 6 779 03-LE04-E13M-951 Male Heterozygous CAUSAL W112 6 1302 01-BE18-L09O-972 Male Heterozygous CAUSAL W270 3 1303 01-BE18-L01U-997 Female Heterozygous CAUSAL W270 3 1304 01-BE18-T08O-001 Male Heterozygous CAUSAL W270 3 1305 02-BE18-Y22O-976 Male Heterozygous CAUSAL W270 3 1824 02-ME18-J05S--984 Female Heterozygous CAUSAL W118 3 1825 02-ME18-F18A-955 Male Heterozygous CAUSAL W118 3
	c.IVS7+1G>T (c.1049+1G>T)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	G>T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1471 01-WA12-C08R-972 Female Heterozygous LIKELY CAUSAL 0
	c.IVS7+2T>C (c.1049+2T>C)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 781 04-VI04-D15M-973 Female Heterozygous CAUSAL W1007 0
	c.IVS7+3G>C (c.1049+3G>C)	7-8	350	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 127 04-US05-M01R-960 Female Heterozygous LIKELY CAUSAL W2093 0 783 03-RI03-D05N-934 Female Heterozygous LIKELY CAUSAL W56 0 1567 02-DE12-M09C-956 Female Heterozygous LIKELY CAUSAL W2093 0 1569 02-DE12-D09A-988 Female Heterozygous LIKELY CAUSAL W2093 0
	c.IVS7+4A>T (c.1049+4A>T)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	A->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 778 03-LA13-M01U-978 Female Heterozygous LIKELY CAUSAL W219 0 780 03-JE26-H05R-949 Male Heterozygous LIKELY CAUSAL W219 0
	c.IVS7+5G>A (c.1049+5G>A)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 128 04-PO21-M01R-960 Female Heterozygous LIKELY CAUSAL W2027 12 129 04-ZE18-B18I-969 Female Heterozygous LIKELY CAUSAL 12 1836 02-RI03-R15B-951 Male Heterozygous LIKELY CAUSAL W2027 12
	c.IVS7+9C>T (c.1049+9C>T)	7-8	350	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 784 03-GO21-S05V-985 Female Heterozygous LIKELY NEUTRAL 0
	c.IVS7-1G>C (c.1050-1G>C)	7-8	350	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 130 04-BE14-M25R-970 Female Heterozygous LIKELY CAUSAL W2068 0 131 04-BE14-K01R-972 Female Heterozygous LIKELY CAUSAL W2068 0 132 04-CA26-M01R-994 Female Heterozygous LIKELY CAUSAL W2068 0 1882 04-GA21-Z15E-001 Heterozygous LIKELY CAUSAL W2068 0
	c.IVS7-2A>C (c.1050-2A>C)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1613 02-CE18-C01R-994 Female Heterozygous LIKELY CAUSAL 0
	c.IVS7-3C>G (c.1050-3C>G)	7-8	350			Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1855 01-AB04-B05N-948 Male Heterozygous UV 0
	c.IVS7-42G>C (c.1050-42G>C)	7-8	350	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1626 02-TH09-L01W-963 Female Heterozygous 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.Cys354AlafsX14	c.1060delT	8	354	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Fr.	Stop at 367	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1310 01-BI05-H05R-958 Male Heterozygous CAUSAL W1046 14
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.Glu356X	c.1066G>T	8	356	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	G->T	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 790 03-LE16-Y15N-988 Female Heterozygous CAUSAL W1078 0 810 03-LE16-M09C-959 Male Heterozygous CAUSAL W1078 0 816 03-LE16-A12A-961 Male Heterozygous CAUSAL W1078 0 1549 02-LE16-R01Y-998 Male Heterozygous CAUSAL W1078 0 1548 02-LE16-A12A-994 Male Heterozygous CAUSAL W1078 0
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.Glu359del	c.1075_1077delGAG	8	359	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	InF	In frame del	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 134 04-HU19-G09L-962 Male Heterozygous LIKELY CAUSAL W1092 6 135 04-EN15-N09C-950 Female Heterozygous LIKELY CAUSAL W1092 6 811 03-HU19-S25L-962 Female Heterozygous LIKELY CAUSAL W1092 6
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.Ile360delinsIleThrLysAsnSer	c.1080ins12	8	360	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 137 04-ME18-N09C-975 Male Heterozygous LIKELY CAUSAL 0
p.Glu363X	c.1087G>T	8	363	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	G->T	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1570 02-AB04-L01T-944 Male Heterozygous CAUSAL W2022 0 1571 02-SA18-P01U-972 Female Heterozygous CAUSAL W2022 0 1572 02-AB04-PA11-995 Female Heterozygous CAUSAL W2022 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.Ile372ThrfsX5	c.1115delT	8	372	Ju,NF,Pem,NM,RP,FA,mS,HD		Small rearrangement	Fr.	Stop at 376	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 788 03-OT08-D05N-944 Female Heterozygous CAUSAL W228 0 789 03-OT08-N15R-937 Male Heterozygous CAUSAL W228 0 804 03-OT08-B18I-960 Female Heterozygous CAUSAL W228 0
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.Glu392X	c.1174G>T	8	392	Ju,Pem,NM,RP,FA,HD		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 805 03-MA18-A20E-008 Female Heterozygous CAUSAL W2019 28 815 03-MA18-J05R-979 Male Heterozygous CAUSAL W2019 28
p.Gln395X	c.1183C>T	8	395	Ju,Pem,NM,RP,FA,HD		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 140 04-MA07-A14N-972 Female Heterozygous CAUSAL W2069 16 141 04-MA07-E12S-948 Female Heterozygous CAUSAL W2069 16 142 04-MA07-J05R-973 Male Heterozygous CAUSAL W2069 16 143 04-TR21-J21L-981 Female Heterozygous CAUSAL 16
	c.IVS8-53Del36 (c.1186-53Del36)	9	396			Small rearrangement	Tv	Del36	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1933 01-PO09-D01-967 Male LIKELY CAUSAL W2020-5 0
	c.IVS8-89G>A (c.1186-89G>A)	9	396	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 144 04-PO25-F18A-955 Female Heterozygous LIKELY NEUTRAL 0
	c.IVS8-96G>T (c.1186-96G>T)	9	396	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 145 04-GO01-R15M-991 Male Heterozygous UV 0 1932 04-GO01-R15-991 Male LIKELY NEUTRAL 0
p.Gln398X	c.1192C>T	9	398	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 932 03-PU12-E04I-963 Male Heterozygous CAUSAL 12
p.Gln398ArgfsX47	c.1192delC	9	398	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 444	11
UMD_id Sample ID Gender Mutation status Variation class Family ID References 829 03-BE25-A13B-001 Female Heterozygous CAUSAL W87 7 833 03-FO18-G09L-951 Male Heterozygous CAUSAL W87 7 835 03-MA21-S05B-000 Male Heterozygous CAUSAL W87 7 836 03-FO18-G21Y-947 Male Heterozygous CAUSAL W87 7 837 03-LE19-E04W-963 Female Heterozygous CAUSAL W87 7 838 03-FO18-R01Y-929 Male Heterozygous CAUSAL W87 7 851 03-MA21-G08I-958 Female Heterozygous CAUSAL W87 29 858 03-CR05-V01N-981 Female Heterozygous CAUSAL W87 7 859 03-CR05-N09C-983 Male Heterozygous CAUSAL W87 7 861 03-BE25-S25L-962 Female Heterozygous CAUSAL W87 7 874 03-CR05-G09N-956 Female Heterozygous CAUSAL W87 7
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.Leu404SerfsX41	c.1210delC	9	404	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 444	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 146 04-KH15-R09M-981 Female Heterozygous CAUSAL W188 0 147 04-KH15-B15U-963 Female Heterozygous CAUSAL W188 0 148 04-KH15-C08A-100 Female Heterozygous CAUSAL W188 0
p.Gln405X	c.1213C>T	9	405	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 149 04-AD01-A14O-981 Female Heterozygous CAUSAL 17 150 04-RO04-H05N-958 Male Heterozygous CAUSAL W2070 17 151 04-RO04-J15H-981 Male Heterozygous CAUSAL W2070 17
p.Asp406ThrfsX39	c.1216delG	9	406	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 444	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 867 03-DU02-N09C-950 Female Heterozygous CAUSAL W32 8 868 03-DU02-H05R-970 Male Heterozygous CAUSAL W32 9 928 03-DU02-A13A-994 Female Heterozygous CAUSAL W32 9
	c.1229_1243delinsG	9	411	Ju,Pem,NM,RP,HD,CH		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 925 03-PO14-C08R-970 Female Heterozygous CAUSAL 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.Leu414_Leu414del	c.1241_1243delTGC	9	414	Ju,Pem,NM,RP,HD,CH		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1947 04-HA13-S09-964 Female CAUSAL 0
p.Arg415X	c.1243C>T	9	415	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	C->T	33
UMD_id Sample ID Gender Mutation status Variation class Family ID References 152 04-JO25-F12O-955 Female Heterozygous CAUSAL W2080 8 153 04-JO25-K05V-992 Male Heterozygous CAUSAL W2080 8 154 04-MU12-M01R-961 Female Heterozygous CAUSAL W2079 8 155 04-MU12-E22A-994 Female Heterozygous CAUSAL W2079 8 156 04-MU12-M01T-990 Male Heterozygous CAUSAL W2079 8 157 04-OB09-R15S-960 Female Heterozygous CAUSAL 8 826 03-BI07-S01N-980 Female Heterozygous CAUSAL 5 850 03-MI19-D05B-985 Female Heterozygous CAUSAL W9 3 852 03-SI03-C01R-963 Female Heterozygous CAUSAL W9 3 853 03-SC08-V09N-929 Male Heterozygous CAUSAL W9 3 854 03-SC08-B18U-938 Male Heterozygous CAUSAL W9 3 870 03-BE14-A04R-970 Female Heterozygous CAUSAL W9 8 879 03-SC08-L09N-971 Female Heterozygous CAUSAL W9 12 880 03-GR05-C15S-952 Male Heterozygous CAUSAL W9 12 881 03-GR05-V09N-949 Male Heterozygous CAUSAL W9 12 882 03-MI19-M01R-962 Female Heterozygous CAUSAL W9 12 884 03-SC08-D01N-972 Male Heterozygous CAUSAL W9 8 885 03-SC08-J15S-965 Female Heterozygous CAUSAL W9 8 886 03-SC08-S05R-969 Male Heterozygous CAUSAL W9 8 887 03-GR05-F01N-981 Female Heterozygous CAUSAL W9 8 888 03-GR05-S20E-981 Female Heterozygous CAUSAL W9 8 889 03-GR05-L09O-979 Male Heterozygous CAUSAL W9 8 906 03-SA14-C12A-000 Female Heterozygous CAUSAL W9 8 907 03-SA14-C01S-000 Female Heterozygous CAUSAL W9 8 1385 01-GR01-G21I-995 Male Heterozygous CAUSAL W1117 14 1386 01-GR01-P01S-959 Male Heterozygous CAUSAL W1117 14 1387 01-GR01-A18N-997 Male Heterozygous CAUSAL W1117 9 1388 01-GR01-G01S-934 Male Heterozygous CAUSAL W1117 9 1412 01-MA19-P01T-952 Male Heterozygous CAUSAL W136 27 1413 01-MA19-F01N-976 Female Heterozygous CAUSAL W136 27 1414 01-MA19-J15H-979 Male Heterozygous CAUSAL W136 27 1415 01-MA19-D05L-981 Female Heterozygous CAUSAL W136 27 1702 02-JO25-I14G-989 Female Heterozygous CAUSAL W2080 27
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.Asp418_Cys421del	c.1252_1263del	9	418	Ju,Pem,NM,RP,HD,CH		Small rearrangement	InF	In frame del	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 823 03-DA13-S15P-987 Female Heterozygous CAUSAL W3 7 856 03-DA13-J05A-954 Male Heterozygous CAUSAL W3 7 863 03-PY00-D01N-945 Female Heterozygous CAUSAL W3 7 864 03-TA09-M01R-952 Female Heterozygous CAUSAL W3 7 865 03-DA13-P09E-958 Male Heterozygous CAUSAL W3 7 900 03-DA13-M01R-929 Female Heterozygous CAUSAL W3 7 1601 02-PA13-C08A-991 Female Heterozygous CAUSAL W3 0
	c.1252_1269delinsAAATGT	9	418			Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1986 04-RA14-E13-978 Female LIKELY 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.Lys422AsnfsX23	c.1266delA	9	422	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 444	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 843 03-SC15-J05A-973 Male Heterozygous CAUSAL W51 9 844 03-SC15-G09S-944 Female Heterozygous CAUSAL W51 9 872 03-SO09-M15N-954 Female Heterozygous CAUSAL W51 9 902 03-SO09-C12A-943 Male Heterozygous CAUSAL W51 3 903 03-SO09-J05A-950 Male Heterozygous CAUSAL W51 3 1552 02-SO09-M01U-939 Male Heterozygous CAUSAL W51 3
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.Glu424GlyfsX25	c.1270dup	9	424	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 448	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1454 01-SG15-M01R-975 Female Heterozygous CAUSAL W142 9 1455 01-SG15-P01N-974 Male Heterozygous CAUSAL W142 9
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.Glu425_Glu425del	c.1274_1276delAGG	9	425	Ju,Pem,NM,RP,HD,CH		Small rearrangement	InF	In frame del	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 841 03-DO18-J15C-996 Male Heterozygous CAUSAL W67 9 875 03-DO18-P01T-966 Female Heterozygous CAUSAL W67 3 877 03-GA21-A14N-949 Female Heterozygous CAUSAL W67 9 897 03-GA21-E18N-924 Male Heterozygous CAUSAL W67 9
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.Trp436X	c.1308G>A	9	436	Pem,NM,RP,HD,CH		Small rearrangement	Ts	G->A	12
UMD_id Sample ID Gender Mutation status Variation class Family ID References 160 03-GE18-V09R-985 Female Heterozygous CAUSAL W134 14 161 04-TI05-L01U-988 Female Heterozygous CAUSAL w2075 14 825 03-CA18-M09C-956 Male Heterozygous CAUSAL W253 23 839 03-TA22-F18E-970 Male Heterozygous CAUSAL W76 23 840 03-TA22-O12I-970 Male Heterozygous CAUSAL W76 23 901 03-CA18-H21G-934 Female Heterozygous CAUSAL W253 15 910 03-SO21-A14N-967 Female Heterozygous CAUSAL W2075 14 911 03-SO21-F12O-993 Female Heterozygous CAUSAL W2075 14 921 03-CA12-C25R-987 Male Heterozygous CAUSAL W253 14 1121 03-GE18-S25L-974 Female Heterozygous CAUSAL W134 14 1122 03-GE18-M01R-954 Female Heterozygous CAUSAL W134 14 1123 03-GE18-A12I-980 Female Heterozygous CAUSAL W134 14
p.Phe439LeufsX5	c.1317_1320delTCTT	9	439	Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 443	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 898 03-TA12-C12A-937 Male Heterozygous CAUSAL W1 3 899 03-TA12-M09C-960 Male Heterozygous CAUSAL W1 3 904 03-BE18-R15L-933 Female Heterozygous CAUSAL W1 7
p.Ser443ValfsX6	c.1325dup	9	442	Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 448	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 905 03-BE14-S01M-978 Female Heterozygous CAUSAL 0
p.Gln442ProfsX3	c.1325_1335del	9	442	Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 444	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 162 04-CO21-C08R-966 Male Heterozygous CAUSAL 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.Leu444X	c.1330delC	9	444	Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 444	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 163 04-AY05-M09C-976 Male Heterozygous CAUSAL W2082 0 164 04-AY05-D25L-998 Male Heterozygous CAUSAL W2082 0 165 04-AY05-E25T-006 Male Heterozygous CAUSAL W2082 0
p.Phe447GlyfsX80	c.1339_1349del	9	447	Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 526	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 820 03-MA19-G09U-934 Female Heterozygous CAUSAL W1080 3 873 03-RO19-J05A-969 Male Heterozygous CAUSAL W53 3 878 03-FR01-E13M-931 Female Heterozygous CAUSAL W53 3
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.Gln450ThrfsX81	c.1346dup	9	449	Pem,NM,HD,CH		Small rearrangement	Fr.	Stop at 530	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 909 03-BE12-C08R-973 Female Heterozygous CAUSAL 0
	c.IVS9+1Del12 (c.1350+1Del12)	9	450			Small rearrangement	Tv	Del12	8
UMD_id Sample ID Gender Mutation status Variation class Family ID References 849 03-FA20-C12A-944 Female Heterozygous CAUSAL W168 0 855 03-FA20-A14T-993 Male Heterozygous CAUSAL W168 0 857 03-FA20-C09N-991 Female Heterozygous CAUSAL W168 0 862 03-FA20-D05N-965 Male Heterozygous CAUSAL W168 0 1298 01-HO21-M05L-997 Female Heterozygous CAUSAL W168 15 1299 01-HO21-S15N-990 Female Heterozygous CAUSAL W168 15 1300 01-HO21-S25L-966 Female Heterozygous CAUSAL W168 15 1301 01-BE01-J05A-941 Male Heterozygous CAUSAL W168 15
	c.IVS9+4DelAG (c.1350+4DelAG)	9	450	Pem,NM,HD,CH		Small rearrangement	Tv	DelAG	8
UMD_id Sample ID Gender Mutation status Variation class Family ID References 939 03-RO07-C08A-995 Female Heterozygous LIKELY CAUSAL W41 7 940 03-RO07-S01N-972 Female Heterozygous LIKELY CAUSAL W41 7 941 03-GE18-L15U-935 Female Heterozygous LIKELY CAUSAL W41 7 942 03-GE18-D15M-955 Male Heterozygous LIKELY CAUSAL W41 7 945 03-GE18-S21Z-981 Female Heterozygous LIKELY CAUSAL W41 7 946 03-GE18-O12I-978 Male Heterozygous LIKELY CAUSAL W41 7 947 03-GE18-A14G-985 Female Heterozygous LIKELY CAUSAL W41 7 950 03-GE18-R05N-958 Male Heterozygous LIKELY CAUSAL W41 7
p.Val451fsX67	c.1351_1833del	10	451	Pem,NM,CH		Large rearrangement Deletion from exon 10 to 10	InF	Stop at 517	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1581 02-SA21-S05R-953 Male Heterozygous CAUSAL 0
	c.IVS9-115G>C (c.1351-115G>C)	10	451	Pem,NM,CH		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1848 Benign 0
	c.IVS9-1G>C (c.1351-1G>C)	10	451	Pem,NM,CH		Small rearrangement	Tv	G->C	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 937 03-LE06-E12O-978 Female Heterozygous CAUSAL W1115 0 943 03-BA09-B12A-950 Female Heterozygous CAUSAL W232 0 948 03-BA09-A12E-973 Male Heterozygous CAUSAL W232 0
	c.IVS9-1G>T (c.1351-1G>T)	10	451	Pem,NM,CH		Small rearrangement	Tv	G->T	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 166 04-ES20-M01G-972 Female Heterozygous CAUSAL W190 18 168 04-VO12-J15C-952 Female Heterozygous CAUSAL W190 18 938 03-OL09-M01R-926 Female Heterozygous CAUSAL W190 18 944 03-VO12-J15C-952 Male Heterozygous CAUSAL W190 18 1598 02-GO21-R01J-974 Male Heterozygous CAUSAL 0
	c.IVS9-24A>G (c.1351-24A>G)	10	451	Pem,NM,CH		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1521 02-BE01-V09R-976 Female Heterozygous UV 0
	c.IVS9-39Del36 (c.1351-39Del36)	10	451			Small rearrangement	Tv	Del36	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 936 03-DI01-M01R-972 Female Heterozygous LIKELY CAUSAL W75 0 949 03-NE09-M01R-953 Female Heterozygous LIKELY CAUSAL W75 0
	c.IVS9-4C>T (c.1351-4C>T)	10	451	Pem,NM,CH		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 951 03-HA02-A14D-942 Male Heterozygous LIKELY NEUTRAL 31
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.Gln453ArgfsX5	c.1356delG	10	452	Pem,NM,CH		Small rearrangement	Fr.	Stop at 457	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 957 03-BU09-L25D-975 Female Heterozygous CAUSAL W1140 0 962 03-VI14-F01B-976 Female Heterozygous CAUSAL W1105 0 1130 03-BU09-F18A-940 Female Heterozygous CAUSAL W1140 0 1243 03-BO03-A04R-948 Male Heterozygous CAUSAL 0 1284 03-BA18-C12A-954 Female Heterozygous CAUSAL 0
p.Gln453X	c.1357C>T	10	453	Pem,NM,CH		Small rearrangement	Ts	C->T	20
UMD_id Sample ID Gender Mutation status Variation class Family ID References 171 04-BO19-M01R-964 Female Heterozygous CAUSAL 0 959 03-RA09-M01R-976 Female Heterozygous CAUSAL W1111 6 979 03-DO19-R05G-973 Female Heterozygous CAUSAL W222 6 980 03-DO19-M01R-974 Female Heterozygous CAUSAL W237 6 981 03-DA03-D05L-935 Female Heterozygous CAUSAL W222 6 1038 03-ET09-J05A-951 Male Heterozygous CAUSAL W226 6 1186 03-OL09-C01R-002 Female Heterozygous CAUSAL W1111 13 1261 03-MO14-L21I-984 Male Heterozygous CAUSAL W237 6 1262 03-MO14-G05O-986 Male Heterozygous CAUSAL W237 6 1267 03-MO14-M01R-964 Female Heterozygous CAUSAL W237 6 1275 03-AB18-N05L-986 Male Heterozygous CAUSAL W222 6 1276 03-DO13-J05R-997 Male Heterozygous CAUSAL W222 6 1277 03-DO13-C08R-992 Male Heterozygous CAUSAL W222 6 1278 03-DO13-P01U-971 Male Heterozygous CAUSAL W222 6 1279 03-DO13-F05R-937 Male Heterozygous CAUSAL W222 6 1280 03-AB18-V09C-964 Male Heterozygous CAUSAL W222 6 1281 03-AB18-D15R-995 Female Heterozygous CAUSAL W222 6 1426 01-PE18-C01R-994 Male Heterozygous CAUSAL 13 1701 02-AN20-A14D-013 Female Heterozygous CAUSAL 13 1798 02-DO13-F05R-937 Male Heterozygous CAUSAL W222 6
p.Arg460X	c.1378C>T	10	460	Pem,NM,CH		Small rearrangement	Ts	C->T	55
UMD_id Sample ID Gender Mutation status Variation class Family ID References 361 03-LA03-P08L-947 Male Heterozygous CAUSAL W11 6 960 03-CH01-P08L-965 Male Heterozygous CAUSAL W128 14 963 03-SU02-A14N-944 Female Heterozygous CAUSAL W258 14 969 03-MA21-V09N-981 Male Heterozygous CAUSAL W255 14 971 03-LA16-M01T-984 Male Heterozygous CAUSAL W78 0 972 03-LA16-M21R-958 Female Heterozygous CAUSAL W78 14 982 03-CH01-V01L-964 Female Heterozygous CAUSAL W128 21 988 03-BO04-M01R-937 Female Heterozygous CAUSAL W269 21 995 03-GR05-L01U-996 Female Heterozygous CAUSAL W244 6 996 03-GR05-E12O-998 Female Heterozygous CAUSAL W244 6 997 03-RO20-A14N-982 Female Heterozygous CAUSAL W269 6 998 03-BO04-G21Y-969 Male Heterozygous CAUSAL W269 6 1024 03-YG05-B05R-928 Male Heterozygous CAUSAL W96 3 1027 03-VI07-J21L-997 Male Heterozygous CAUSAL W26 14 1036 03-HE09-S25L-955 Female Heterozygous CAUSAL W169 15 1037 03-NO02-L21C-927 Female Heterozygous CAUSAL W169 15 1042 03-NO02-D15M-960 Male Heterozygous CAUSAL W169 15 1049 03-PA14-J05A-958 Male Heterozygous CAUSAL W192 21 1052 03-PA14-F01B-957 Male Heterozygous CAUSAL W192 21 1057 03-FU19-F18E-975 Male Heterozygous CAUSAL W244 15 1066 03-PO09-G18E-981 Male Heterozygous CAUSAL W96 21 1071 03-VA19-V01L-987 Female Heterozygous CAUSAL W96 9 1078 03-VI07-L01U-991 Male Heterozygous CAUSAL W26 14 1088 03-PO09-A14T-985 Male Heterozygous CAUSAL W96 15 1098 03-UR02-M01R-943 Female Heterozygous CAUSAL W88 15 1110 03-VI07-J05A-944 Male Heterozygous CAUSAL W26 14 1111 03-VI07-O12I-962 Male Heterozygous CAUSAL W26 14 1112 03-GO09-C08R-984 Female Heterozygous CAUSAL W26 14 1118 03-VA19-A18M-962 Female Heterozygous CAUSAL W96 21 1129 03-FU19-M09C-949 Male Heterozygous CAUSAL W244 3 1131 03-LE20-D05N-932 Female Heterozygous CAUSAL W96 3 1132 03-GR05-L01U-976 Female Heterozygous CAUSAL W244 3 1136 03-GO09-I19A-957 Female Heterozygous CAUSAL W26 14 1140 03-AM05-L09L-942 Female Heterozygous CAUSAL W26 14 1159 03-GO21-D01N-946 Male Heterozygous CAUSAL W78 15 1167 03-DE19-P01U-938 Female Heterozygous CAUSAL W243 27 1170 03-PO09-M01R-952 Female Heterozygous CAUSAL W96 27 1200 03-YG05-Y15H-003 Male Heterozygous CAUSAL W96 21 1205 03-LE07-J05A-956 Male Heterozygous CAUSAL W2038 14 1207 03-LE07-D09D-972 Male Heterozygous CAUSAL W2038 14 1209 03-LE07-N05L-966 Female Heterozygous CAUSAL W2038 14 1233 03-BR09-N09C-979 Male Heterozygous CAUSAL 21 1283 03-BA18-V09R-972 Female Heterozygous CAUSAL 21 1384 01-GI18-J01C-939 Female Heterozygous CAUSAL W1095 14 1449 01-RO20-M01X-009 Male Heterozygous CAUSAL W269 14 1450 01-RO20-Y01N-978 Male Heterozygous CAUSAL W269 14 1451 01-RO20-A14N-947 Female Heterozygous CAUSAL W269 14 1531 02-LE03-B18U-961 Male Heterozygous CAUSAL 15 1537 02-FO18-P08I-961 Male Heterozygous CAUSAL W202 3 1538 02-FO18-S15L-966 Female Heterozygous CAUSAL W202 3 1539 02-CI20-N01I-997 Female Heterozygous CAUSAL W202 3 1542 02-DE18-M01R-948 Female Heterozygous CAUSAL W202 3 1543 02-CI20-S15P-973 Female Heterozygous CAUSAL W202 3 1618 02-AM05-L09L-942 Female Heterozygous CAUSAL W26 21 1665 02-HE03-J10R-990 Male Heterozygous CAUSAL 21
	c.1378_1378delinsAATAAG	10	460	Pem,NM,CH		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1657 02-BO21-F01B-969 Male Heterozygous CAUSAL 0
	c.1378_1378delinsAATAAGT	10	460	Pem,NM,CH		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1689 02-RO19-E13M-003 Female Heterozygous CAUSAL 0
	c.1378_1378delinsACATAAT	10	460	Pem,NM,CH		Small rearrangement	indels	indels	11
UMD_id Sample ID Gender Mutation status Variation class Family ID References 954 03-DE03-C12A-957 Female Heterozygous CAUSAL 31 958 03-DE12-M01R-950 Male Heterozygous CAUSAL W90 0 974 03-DE12-E13M-980 Female Heterozygous CAUSAL W90 0 985 03-BI19-A14D-956 Male Heterozygous CAUSAL W1053 0 986 03-DE12-S01N-974 Male Heterozygous CAUSAL W90 0 1000 03-BI19-G18E-983 Male Heterozygous CAUSAL W1053 0 1149 03-DE12-M01R-923 Female Heterozygous CAUSAL W90 0 1221 03-BO05-A21R-989 Female Heterozygous CAUSAL W1053 0 1222 03-BO05-A21R-934 Female Heterozygous CAUSAL W1053 0 1223 03-BI19-M01R-934 Female Heterozygous CAUSAL W1053 0 1224 03-SE12-R05G-963 Female Heterozygous CAUSAL W1053 0
p.Glu461_Ala464del	c.1380_1391del	10	460	Pem,NM,CH		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1453 01-SE11-M01R-950 Female Heterozygous UV W1018 0
p.Glu461ProfsX99	c.1381insCC	10	461	Pem,NM,CH		Small rearrangement	Fr.	Stop at 559	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 973 03-LA07-P01S-960 Female Heterozygous CAUSAL W98 3 1148 03-DE12-J05A-940 Male Heterozygous CAUSAL W98 3
p.Glu461GlyfsX67	c.1382_1389del	10	461	Pem,NM,CH		Small rearrangement	Fr.	Stop at 527	28
UMD_id Sample ID Gender Mutation status Variation class Family ID References 172 04-MO14-G01L-990 Male Heterozygous CAUSAL W2083 0 173 04-MO14-E18I-966 Male Heterozygous CAUSAL W2083 0 174 04-MO14-E12S-996 Female Heterozygous CAUSAL W2083 0 175 04-PA07-S05V-977 Female Heterozygous CAUSAL W120 0 176 04-PA07-J15H-980 Female Heterozygous CAUSAL W120 0 177 04-PA07-E13M-979 Female Heterozygous CAUSAL W120 0 179 04-SA18-C01T-949 Female Heterozygous CAUSAL 0 953 03-JE08-D05B-989 Female Heterozygous CAUSAL W234 0 961 03-BE21-D01N-953 Male Heterozygous CAUSAL W234 0 989 03-HO21-E18I-958 Male Heterozygous CAUSAL W1054 0 1023 03-NA14-C05C-002 Female Heterozygous CAUSAL W120 0 1033 03-PA07-J15N-985 Male Heterozygous CAUSAL W120 0 1035 03-PA07-M09C-954 Male Heterozygous CAUSAL W120 0 1068 03-PA07-S05V-977 Female Heterozygous CAUSAL W120 0 1069 03-PA07-J15H-980 Female Heterozygous CAUSAL W120 0 1070 03-PA07-G05O-931 Male Heterozygous CAUSAL W120 0 1137 03-CU22-F12O-987 Male Heterozygous CAUSAL W234 0 1138 03-BE21-M01T-988 Male Heterozygous CAUSAL W234 0 1143 03-BE21-J05A-956 Male Heterozygous CAUSAL W234 0 1194 03-JE08-M01R-960 Male Heterozygous CAUSAL W234 0 1238 03-JE08-A14D-935 Female Heterozygous CAUSAL W234 0 1554 02-CA14-M09R-961 Female Heterozygous CAUSAL W234 0 1555 02-BE21-A14N-974 Female Heterozygous CAUSAL W234 0 1556 02-CA14-S05B-987 Male Heterozygous CAUSAL W234 0 1777 02-BE21-O12I-985 Male Heterozygous CAUSAL W234 0 1778 02-BE21-F18A-969 Female Heterozygous CAUSAL W234 0 1796 02-DE12-L25D-969 Female Heterozygous CAUSAL W234 0 1812 02-HO18-M15N-939 Female Heterozygous CAUSAL 0
p.Glu461delinsGluAlaGluGlu	c.1382_1390dup	10	461	Pem,NM,CH		Small rearrangement	Fr.	In frame ins	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1039 03-JU16-M15N-952 Female Heterozygous CAUSAL W12 0 1115 03-MA26-S15F-984 Male Heterozygous CAUSAL W12 0 1160 03-MA26-M09C-955 Female Heterozygous CAUSAL W12 0 1191 03-MA26-A13A-978 Female Heterozygous CAUSAL W12 0 1197 03-LI18-C08R-976 Female Heterozygous CAUSAL W12 0 1225 03-RO19-B05R-954 Male Heterozygous CAUSAL W12 0 1231 03-RO19-L01U-947 Male Heterozygous CAUSAL W12 0
p.Ala467ArgfsX98	c.1382_1398dup	10	461	Pem,NM,CH		Small rearrangement	Fr.	Stop at 564	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 180 04-BE20-C05L-976 Female Heterozygous CAUSAL W104 0 181 04-BE20-J05A-950 Male Heterozygous CAUSAL W104 0 1103 03-BE20-J05A-948 Male Heterozygous CAUSAL W104 0 1187 03-BE20-J05A-950 Male Heterozygous CAUSAL W104 31
p.Glu461_Glu466del	c.1382_1399del	10	461	Pem,NM,CH		Small rearrangement	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 967 03-NE18-P01T-953 Male Heterozygous LIKELY CAUSAL W242 0 1139 03-CU22-I19A-963 Female Heterozygous LIKELY CAUSAL W264 0
p.Glu461GlyfsX62	c.1382_1404del	10	461	Pem,NM,CH		Small rearrangement	Fr.	Stop at 522	8
UMD_id Sample ID Gender Mutation status Variation class Family ID References 178 04-PO13-S01N-975 Female Heterozygous CAUSAL W157 0 965 03-PO13-S01N-975 Female Heterozygous CAUSAL W157 9 1040 03-PO13-C08R-951 Female Heterozygous CAUSAL W157 9 1061 03-PO13-N01T-974 Female Heterozygous CAUSAL W157 9 1062 03-AU02-F12O-988 Female Heterozygous CAUSAL W157 0 1089 03-AU02-A18N-984 Male Heterozygous CAUSAL W157 0 1094 03-AU02-M01R-948 Male Heterozygous CAUSAL W157 9 1095 03-AU02-F18A-976 Male Heterozygous CAUSAL W157 9
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.Trp471X	c.1413G>A	10	471	Pem,NM,CH		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1213 03-RO21-L01U-965 Female Heterozygous CAUSAL 32
p.Glu473ArgfsX58	c.1415dup	10	472	Pem,NM,CH		Small rearrangement	Fr.	Stop at 530	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 182 04-SP21-R15B-994 Male Heterozygous CAUSAL W2084 0 183 04-ZA16-L01D-974 Female Heterozygous CAUSAL W2084 0 184 04-ZA16-H01N-001 Female Heterozygous CAUSAL W2084 0
p.Glu486SerfsX73	c.1456delG	10	486	Sm,NM,CH		Small rearrangement	Fr.	Stop at 558	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1344 01-DA14-F18A-970 Male Heterozygous CAUSAL W1087 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.Pro494AlafsX37	c.1478dup	10	493	Sm3,CH		Small rearrangement	Fr.	Stop at 530	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1820 02-LO21-A12A-967 Male Heterozygous CAUSAL W2053 0 1821 02-LO21-D15L-946 Female Heterozygous CAUSAL W2053 0 1822 02-LO21-F18A-966 Female Heterozygous CAUSAL W2053 0
	c.1478_1479delinsA	10	494	Sm3,CH		Small rearrangement	indels	indels	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1016 03-NI03-M01R-964 Female Heterozygous CAUSAL W170 0 1063 03-GO21-M01R-931 Male Heterozygous CAUSAL W170 0 1064 03-DA08-A12A-969 Male Heterozygous CAUSAL W170 0 1065 03-DA08-D05N-943 Female Heterozygous CAUSAL W170 0
p.Lys496GlnfsX35	c.1485dup	10	496	Sm3,CH		Small rearrangement	Fr.	Stop at 530	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1107 03-ME25-P01T-966 Female Heterozygous CAUSAL W166 3 1151 03-ME25-A18N-963 Male Heterozygous CAUSAL W166 9 1257 03-CE02-J05S-979 Female Heterozygous CAUSAL W166 3
p.Lys496ArgfsX63	c.1487delA	10	496	Sm3,CH		Small rearrangement	Fr.	Stop at 558	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1204 03-PE18-D09E-000 Male Heterozygous CAUSAL W2031 0 1286 03-PE18-G21I-997 Male Heterozygous CAUSAL W2031 0
p.Leu500TrpfsX59	c.1497delA	10	499	Sm3,CH		Small rearrangement	Fr.	Stop at 558	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1134 03-TR15-F01B-970 Male Heterozygous CAUSAL W77 9 1142 03-TR15-M01G-984 Female Heterozygous CAUSAL W77 7 1155 03-TR15-R15L-934 Male Heterozygous CAUSAL W77 3 1156 03-TR15-B05R-957 Male Heterozygous CAUSAL W77 3
p.Leu500ThrfsX31	c.1497dup	10	499	Sm3,CH		Small rearrangement	Fr.	Stop at 530	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1784 02-BU09-T01M-992 Female Heterozygous CAUSAL 0
p.Asp501_Leu504delinsVal	c.1502_1510del	10	501	Sm3,CH		Small rearrangement	InF	In frame del	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1909 03-PE19-D05N-939 Female Heterozygous LIKELY CAUSAL W1081 0 1910 03-PE19-P18I-987 Female Heterozygous LIKELY CAUSAL W1081 0 1908 03-PE19-J15H-975 Male Heterozygous LIKELY CAUSAL W1081 0
p.Leu504ProfsX27	c.1505dup	10	502	Sm3,CH		Small rearrangement	Fr.	Stop at 530	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1246 03-DA11-R01F-943 Male Heterozygous 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.Thr506AsnfsX25	c.1516dup	10	506	Sm3,CH		Small rearrangement	Fr.	Stop at 530	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1255 03-VO12-E22E-952 Female Heterozygous CAUSAL W162 0 1395 01-KJ09-E22E-952 Female Heterozygous CAUSAL 0 1551 02-VO12-E22E-952 Female Heterozygous CAUSAL W2028 0
p.Val511ArgfsX51	c.1519_1526dup	10	507	Sm3,CH		Small rearrangement	Fr.	Stop at 561	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 185 04-DU18-C05L-988 Female Heterozygous CAUSAL 0
p.Ala510ProfsX23	c.1520_1526dup	10	507	Sm3,CH		Small rearrangement	Fr.	Stop at 532	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1652 02-DU18-C05L-988 Female Heterozygous CAUSAL 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.Gln508X	c.1522C>T	10	508	Sm3,CH		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1647 02-DE22-F18A-957 Female Heterozygous CAUSAL W1143 5
p.Gly509ValfsX50	c.1525delG	10	509	Sm3,CH		Small rearrangement	Fr.	Stop at 558	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1102 03-RE04-M09C-944 Female Heterozygous CAUSAL W1048 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.Arg516GlufsX14	c.1539_1540delAC	10	513	Sm3,CH		Small rearrangement	Fr.	Stop at 529	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1478 01-GI02-J05A-943 Male Heterozygous CAUSAL 0 1891 04-BO14-V01L-967 Female Heterozygous CAUSAL 0
p.Pro514AlafsX17	c.1540insG	10	514	Sm3,CH		Small rearrangement	Fr.	Stop at 530	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1020 03-CO12-V05R-982 Female Heterozygous CAUSAL W146 9 1021 03-CO12-D15M-950 Male Heterozygous CAUSAL W146 9
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.Arg516ProfsX15	c.1545insG	10	515	Sm3,CH		Small rearrangement	Fr.	Stop at 530	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1004 03-MA21-D01V-985 Male Heterozygous CAUSAL W193 21 1005 03-MA21-G09L-959 Male Heterozygous CAUSAL W193 21 1006 03-MA21-P01T-962 Male Heterozygous CAUSAL W193 21 1008 03-MA18-P08I-957 Male Heterozygous CAUSAL W193 21 1009 03-MA18-C08R-937 Female Heterozygous CAUSAL W193 21
p.Arg516AlafsX15	c.1545_1546insg	10	516	Sm3,CH		Large rearrangement	Fr.	Stop at 530	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1007 03-MA18-P09E-958 Male Heterozygous CAUSAL W193 21 1116 03-MA21-M01R-935 Female Heterozygous CAUSAL W193 21
p.Arg516GlyfsX43	c.1546delC	10	516	Sm3,CH		Small rearrangement	Fr.	Stop at 558	20
UMD_id Sample ID Gender Mutation status Variation class Family ID References 186 04-BA21-D01P-974 Female Heterozygous CAUSAL W2085 2 188 04-BR21-S20E-973 Female Heterozygous CAUSAL W13 2 190 04-CH01-F12O-959 Female Heterozygous CAUSAL 2 194 04-LE02-A12E-991 Male Heterozygous CAUSAL 2 199 04-MA18-M05L-993 Female Heterozygous CAUSAL W89 2 200 04-MA18-A12I-993 Female Heterozygous CAUSAL W89 2 978 03-FR05-M09C-984 Female Heterozygous CAUSAL W13 31 1073 03-MA18-M05L-993 Female Heterozygous CAUSAL W89 21 1082 03-FR05-C12A-962 Male Heterozygous CAUSAL W13 21 1083 03-FR05-C08R-975 Female Heterozygous CAUSAL W13 21 1135 03-MA18-C15R-966 Female Heterozygous CAUSAL W89 21 1141 03-GO13-J05A-927 Male Heterozygous CAUSAL W13 3 1172 03-FR05-C05C-934 Female Heterozygous CAUSAL W13 21 1173 03-LA12-M09R-947 Female Heterozygous CAUSAL W13 31 1206 03-CA12-G05O-943 Male Heterozygous CAUSAL W2054 7 1220 03-CA12-J05A-969 Male Heterozygous CAUSAL W2054 21 1232 03-FO21-R15L-950 Male Heterozygous CAUSAL 21 1234 03-MU14-A14T-935 Male Heterozygous CAUSAL 21 1240 03-BA21-A18N-991 Male Heterozygous CAUSAL W2085 21 1887 04-AM16-S20E-973 Female Heterozygous CAUSAL W13 21
p.Arg516ProfsX15	c.1546dup	10	516	Sm3,CH		Small rearrangement	Fr.	Stop at 530	115
UMD_id Sample ID Gender Mutation status Variation class Family ID References 187 04-BE18-M25R-971 Female Heterozygous CAUSAL W1052 21 191 04-DU13-J05A-964 Male Heterozygous CAUSAL W172 21 192 04-FO18-A14N-932 Female Heterozygous CAUSAL W84 21 193 04-GR01-S01B-950 Female Heterozygous CAUSAL W1096 21 195 04-JE26-P05R-995 Female Heterozygous CAUSAL W2086 21 196 04-JE26-H21G-953 Female Heterozygous CAUSAL W2086 21 197 04-MA18-L21C-988 Female Heterozygous CAUSAL W2086 21 198 04-MA18-G23E-986 Female Heterozygous CAUSAL W2086 21 201 04-PI14-A12E-982 Male Heterozygous CAUSAL W1055 21 202 04-PO16-H21G-967 Male Heterozygous CAUSAL W1083 21 203 04-RE19-B05R-940 Female Heterozygous CAUSAL W216 21 1126 03-MO08-N01D-990 Male Heterozygous CAUSAL W1110 21 952 03-AB02-E13I-990 Female Heterozygous CAUSAL W172 21 956 03-FU07-V09N-976 Male Heterozygous CAUSAL W1119 3 964 03-SI24-B05A-963 Female Heterozygous CAUSAL W1067 3 968 03-MO08-S13A-953 Male Heterozygous CAUSAL W1110 3 975 03-GR01-L21C-975 Male Heterozygous CAUSAL W1096 3 992 03-AR14-G21Y-971 Male Heterozygous CAUSAL W1067 3 999 03-LE17-F01B-968 Female Heterozygous CAUSAL W215 7 1002 03-TR05-D09M-990 Male Heterozygous CAUSAL W216 3 1003 03-SA14-B05A-965 Female Heterozygous CAUSAL W216 3 1013 03-CH05-I12A-990 Male Heterozygous CAUSAL W179 15 1014 03-CH05-L09S-987 Female Heterozygous CAUSAL W179 15 1015 03-CH05-M01R-958 Female Heterozygous CAUSAL W179 15 1025 03-KO18-H05L-944 Female Heterozygous CAUSAL W84 3 1026 03-KO18-A18I-978 Female Heterozygous CAUSAL W84 3 1043 03-KO18-M01Y-976 Female Heterozygous CAUSAL W84 21 1048 03-DU13-J05A-964 Male Heterozygous CAUSAL W172 21 1050 03-MO18-M09C-947 Female Heterozygous CAUSAL W44 21 1054 03-TR05-V05R-964 Female Heterozygous CAUSAL W216 21 1055 03-PO09-B05R-952 Female Heterozygous CAUSAL W6 21 1056 03-JA25-J05A-951 Male Heterozygous CAUSAL W6 21 1067 03-PI05-A21R-986 Female Heterozygous CAUSAL W84 21 1076 03-JA25-S01N-980 Female Heterozygous CAUSAL W6 21 1077 03-JA25-M01R-986 Female Heterozygous CAUSAL W6 21 1086 03-CH21-S01B-981 Female Heterozygous CAUSAL W6 21 1091 03-HA21-M01U-929 Male Heterozygous CAUSAL W177 21 1093 03-HA21-N15R-971 Male Heterozygous CAUSAL W177 21 1097 03-LE17-P09E-926 Male Heterozygous CAUSAL W215 21 1099 03-YA04-L01U-975 Female Heterozygous CAUSAL W1049 21 1100 03-DU13-J05A-941 Male Heterozygous CAUSAL W172 21 1101 03-AB02-L01U-966 Female Heterozygous CAUSAL W172 21 1105 03-DH08-S25L-971 Female Heterozygous CAUSAL W1055 21 1109 03-SA02-M09C-945 Male Heterozygous CAUSAL W44 21 1119 03-HI22-G05R-957 Male Heterozygous CAUSAL W8 21 1144 03-CA07-H05L-935 Female Heterozygous CAUSAL W84 21 1145 03-PI05-G08I-960 Male Heterozygous CAUSAL W84 21 1146 03-CH21-P01T-959 Female Heterozygous CAUSAL W6 21 1147 03-JA25-R01Y-926 Male Heterozygous CAUSAL W6 21 1150 03-JA04-G05R-936 Male Heterozygous CAUSAL W38 21 1153 03-LA22-A07N-968 Female Heterozygous CAUSAL W35 21 1154 03-JA25-O03T-952 Male Heterozygous CAUSAL W6 21 1157 03-JA25-F01B-971 Male Heterozygous CAUSAL W6 21 1162 03-MO18-R15G-920 Male Heterozygous CAUSAL W44 21 1176 03-SA14-A04R-003 Male Heterozygous CAUSAL W216 21 1177 03-SA14-C12E-000 Male Heterozygous CAUSAL W216 21 1179 03-SA14-L21C-998 Female Heterozygous CAUSAL W216 21 1190 03-HA21-B05N-003 Male Heterozygous CAUSAL W177 21 1195 03-MO21-C25R-974 Male Heterozygous CAUSAL W2034 21 1196 03-MO21-C08R-954 Male Heterozygous CAUSAL W2034 21 1202 03-GU09-M01R-954 Female Heterozygous CAUSAL 3 1630 02-BO21-D09N-000 Female Heterozygous CAUSAL W2045 21 1239 03-NA18-M01U-956 Male Heterozygous CAUSAL 21 1263 03-BE18-M09C-945 Male Heterozygous CAUSAL 21 1269 03-HA21-V01L-998 Male Heterozygous CAUSAL W177 21 1272 03-PI14-S25L-971 Female Heterozygous CAUSAL W1055 21 1325 01-LE07-I19A-971 Female Heterozygous CAUSAL W35 3 1326 01-DE12-A07N-968 Female Heterozygous CAUSAL W35 3 1327 01-LA22-M01R-003 Female Heterozygous CAUSAL W35 3 1328 01-DE12-F05R-945 Female Heterozygous CAUSAL W35 3 1329 01-CA26-B05R-952 Male Heterozygous CAUSAL W35 3 1330 01-CA26-C05C-985 Female Heterozygous CAUSAL W35 3 1331 01-CA26-S05B-990 Male Heterozygous CAUSAL W35 3 1332 01-CA26-A14D-926 Male Heterozygous CAUSAL W35 3 1333 01-SU13-P01S-959 Female Heterozygous CAUSAL W35 3 1334 01-SU13-D15M-955 Female Heterozygous CAUSAL W35 3 1335 01-SU13-J05A-932 Female Heterozygous CAUSAL W35 3 1336 01-LE03-M01R-000 Female Heterozygous CAUSAL W35 3 1337 01-LE03-R05N-000 Male Heterozygous CAUSAL W35 3 1338 01-LE03-C05C-000 Female Heterozygous CAUSAL W35 3 1371 01-FO18-J15S-961 Female Heterozygous CAUSAL W84 21 1396 01-VE12-J15N-985 Male Heterozygous CAUSAL W6 12 1397 01-PO09-I19A-979 Female Heterozygous CAUSAL W6 12 1398 01-JA25-A24E-998 Male Heterozygous CAUSAL W6 12 1399 01-JA25-A14N-984 Female Heterozygous CAUSAL W6 12 1400 01-VI12-C15R-969 Female Heterozygous CAUSAL W6 12 1401 01-JA25-J05A-928 Female Heterozygous CAUSAL W6 12 1402 01-DE17-M01D-924 Female Heterozygous CAUSAL W6 12 1404 01-PO16-L01U-961 Female Heterozygous CAUSAL W1083 14 1405 01-DE06-C08A-932 Female Heterozygous CAUSAL W1083 14 1407 01-MO18-Z15E-002 Female Heterozygous CAUSAL W215 14 1417 01-ME09-M01R-924 Male Heterozygous CAUSAL W1047 14 1527 02-RE19-M25R-962 Female Heterozygous CAUSAL W216 7 1528 02-RE19-V09N-970 Male Heterozygous CAUSAL W216 7 1529 02-RE19-D01V-996 Male Heterozygous CAUSAL W216 7 1544 02-LE13-C01T-956 Female Heterozygous CAUSAL 21 1545 02-PE20-B05T-956 Female Heterozygous CAUSAL W6 21 1546 02-PE20-S05B-979 Male Heterozygous CAUSAL W6 21 1565 02-DE12-C01M-939 Female Heterozygous CAUSAL W1088 7 1566 02-DE12-H05N-934 Male Heterozygous CAUSAL W1088 3 1610 02-CO08-Y22A-964 Male Heterozygous CAUSAL W179 15 1611 02-CO08-M09C-971 Male Heterozygous CAUSAL W179 15 1612 02-CO08-A12F-960 Male Heterozygous CAUSAL W179 15 1628 02-BO21-M05B-948 Female Heterozygous CAUSAL W2045 21 1629 02-BO21-R01C-000 Male Heterozygous CAUSAL W2045 21 1631 02-BO21-S01M-000 Female Heterozygous CAUSAL W2045 21 1632 02-ZA26-M15H-007 Male Heterozygous CAUSAL W2061 21 1633 02-ZA26-L09N-013 Female Heterozygous CAUSAL W2061 21 1786 02-CA18-A12A-959 Male Heterozygous CAUSAL 21 1787 02-CO08-P01U-938 Female Heterozygous CAUSAL W179 21 1837 02-RO03-J15N-984 Male Heterozygous CAUSAL W2026 21 1838 02-RO03-L01U-961 Female Heterozygous CAUSAL W2026 21 1839 02-RO03-C12A-990 Female Heterozygous CAUSAL W2026 21 1888 04-TO13-A14D-981 Male Heterozygous CAUSAL 21 1892 04-ME14-L21E-983 Female Heterozygous CAUSAL 21
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.Lys517AlafsX13	c.1549_1550delAA	10	517	Sm3,CH		Small rearrangement	Fr.	Stop at 529	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 970 03-MA18-J15E-949 Male Heterozygous CAUSAL W1101 0 1818 02-LA21-G08I-950 Female Heterozygous CAUSAL W2055 0 1819 02-LA21-J05R-973 Male Heterozygous CAUSAL W2055 0
p.Gly520TrpfsX11	c.1556dup	10	519	Sm3,CH		Small rearrangement	Fr.	Stop at 530	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1635 02-CH09-M05H-981 Male Heterozygous CAUSAL 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
	c.1567_1568delinsA	10	523	Sm3,CH		Small rearrangement	indels	indels	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1506 02-CL15-S20E-972 Male Heterozygous CAUSAL W1019 0 1507 02-CL15-JE18-973 Male Heterozygous CAUSAL W1019 0 1508 02-CL15-R05N-950 Female Heterozygous CAUSAL W1019 0 1509 02-CL15-L05A-000 Female Heterozygous CAUSAL W1019 0 1510 02-CL15-J05R-970 Male Heterozygous CAUSAL W1019 0
p.Arg527X	c.1579C>T	10	527	Sm3,CH		Small rearrangement	Ts	C->T	16
UMD_id Sample ID Gender Mutation status Variation class Family ID References 990 03-VE14S05B-975 Male Heterozygous CAUSAL W4 6 991 03-VE14-Y22E-947 Female Heterozygous CAUSAL W4 6 1053 03-PE18-C08R-949 Female Heterozygous CAUSAL W4 25 1058 03-GR15-J05A-963 Male Heterozygous CAUSAL 696 0 1072 03-ST15-J15N-985 Male Heterozygous CAUSAL W25 25 1113 03-GU02-B18U-957 Male Heterozygous CAUSAL W4 25 1117 03-EU26-S25L-956 Female Heterozygous CAUSAL W25 25 1128 03-FR05-P01S-959 Male Heterozygous CAUSAL W4 21 1152 03-BE18-M01R-923 Female Heterozygous CAUSAL W4 25 1166 03-GU02-C08R-955 Male Heterozygous CAUSAL W4 25 1169 03-ST15-D05N-952 Male Heterozygous CAUSAL W25 25 1175 03-ST15-L15U-928 Male Heterozygous CAUSAL W25 25 1189 03-GU02-G09L-958 Male Heterozygous CAUSAL W4 21 1254 03-GU02-S09M-949 Female Heterozygous CAUSAL W4 25 1258 03-KO08-A14G-XXX Female Heterozygous CAUSAL 27 1704 02-ST15-L15U-954 Male Heterozygous CAUSAL W25 21
p.Arg527GlufsX32	c.1579delC	10	527	Sm3,CH		Small rearrangement	Fr.	Stop at 558	11
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1012 03-PO09-M01R-979 Female Heterozygous CAUSAL W181 0 987 03-HA19-M05L-989 Female Heterozygous CAUSAL W181 0 1010 03-HA19-C12A-950 Male Heterozygous CAUSAL W181 0 1011 03-GA02-S15P-988 Female Heterozygous CAUSAL W181 0 1044 03-GA02-M01R-953 Female Heterozygous CAUSAL W181 0 1045 03-PO09-R05N-955 Female Heterozygous CAUSAL W181 0 1046 03-PO09-E13I-983 Female Heterozygous CAUSAL W181 0 1059 03-MO14-J05A-934 Male Heterozygous CAUSAL W182 0 1060 03-MO14-O12I-962 Male Heterozygous CAUSAL W182 0 1090 03-HA19-M09C-951 Male Heterozygous CAUSAL W181 0 1247 03-GA02-S05B-983 Male Heterozygous CAUSAL W181 0
p.Gly531ValfsX28	c.1590delA	10	530	Sm3,CH		Small rearrangement	Fr.	Stop at 558	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 204 04-BR01-R01P-963 Male Heterozygous CAUSAL W200 19 205 04-GI06-J15C-948 Female Heterozygous CAUSAL 19 1092 03-BR01-R01P-963 Male Heterozygous CAUSAL W200 9
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.Ala535ThrfsX12	c.1603_1631del	10	535	Sm3,CH		Small rearrangement	Fr.	Stop at 546	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1377 01-GE22-P01T-968 Male Heterozygous CAUSAL W167 0 1378 01-CO18-M09C-000 Female Heterozygous CAUSAL W167 0 1379 01-GE22-C05D-968 Male Heterozygous CAUSAL W167 0 1380 01-CO18-T08B-998 Male Heterozygous CAUSAL W167 0 1381 01-CO18-T15M-000 Male Heterozygous CAUSAL W167 0 1382 01-CO18-A12A-967 Male Heterozygous CAUSAL W167 0 1383 01-GE22-D15R-970 Female Heterozygous CAUSAL W167 0
p.Gln536X	c.1606C>T	10	536	Sm3,CH		Small rearrangement	Ts	C->T	10
UMD_id Sample ID Gender Mutation status Variation class Family ID References 993 03-BU07-C08R-973 Female Heterozygous CAUSAL W263 3 994 03-PE07-J15S-943 Male Heterozygous CAUSAL W263 3 1074 03-JO21-Y01N-968 Male Heterozygous CAUSAL W36 3 1075 03-JO21-B18U-965 Male Heterozygous CAUSAL W36 3 1079 03-GI07-P08I-000 Male Heterozygous CAUSAL W36 3 1087 03-BI01-G21I-970 Male Heterozygous CAUSAL W36 3 1161 03-BI01-E04I-943 Female Heterozygous CAUSAL W36 3 1163 03-GI07-B05R-945 Male Heterozygous CAUSAL W36 3 1164 03-JO21-I19A-941 Female Heterozygous CAUSAL W36 3 1810 02-GI07-P08I-980 Male Heterozygous CAUSAL W36 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.Thr541GlnfsX18	c.1620delC	10	540	Sm3,CH		Small rearrangement	Fr.	Stop at 558	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 983 03-CA19-I22A-977 Male Heterozygous CAUSAL 0
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.Ser543X	c.1628C>G	10	543	Sm3,CH		Small rearrangement	Tv	C->G	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1253 03-DE06-C01R-974 Female Heterozygous CAUSAL W251 33 1265 03-SA12-B05R-948 Male Heterozygous CAUSAL 33 1893 04-EM01-F12A-988 Female Heterozygous CAUSAL 33
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.Phe553SerfsX6	c.1658delT	10	553	Sm3,CH		Small rearrangement	Fr.	Stop at 558	16
UMD_id Sample ID Gender Mutation status Variation class Family ID References 215 04-DE19-D09D-962 Male Heterozygous CAUSAL W50 7 216 04-DE19-C01T-955 Female Heterozygous CAUSAL W50 7 1085 03-DE19-D05N-963 Male Heterozygous CAUSAL W50 7 1124 03-DE19-A14D-927 Female Heterozygous CAUSAL W50 7 1127 03-DE19-C01T-955 Female Heterozygous CAUSAL W50 3 1287 01-AG01-N01T-960 Female Heterozygous CAUSAL 14 1348 01-LE10-H21G-006 Male Heterozygous CAUSAL W50 33 1349 01-LE10-A07A-004 Female Heterozygous CAUSAL W50 33 1350 01-LE10-A21R-985 Female Heterozygous CAUSAL W50 33 1351 01-VA14-M01T-002 Male Heterozygous CAUSAL W50 33 1352 01-VA14-F18E-000 Male Heterozygous CAUSAL W50 33 1353 01-DE19-S20E-972 Male Heterozygous CAUSAL W50 33 1354 01-DE19-F18E-973 Male Heterozygous CAUSAL W50 33 1355 01-DE19-S05B-978 Male Heterozygous CAUSAL W50 33 1356 03-DE19-A21R-998 Female Heterozygous CAUSAL W50 33 1357 01-DE19-C15R-000 Female Heterozygous CAUSAL W50 33
p.Ser555ValfsX4	c.1662delG	10	554	Sm3,CH		Small rearrangement	Fr.	Stop at 558	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1393 01-HO21-F18A-958 Female Heterozygous CAUSAL 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.Met558X	c.1672delA	10	558	Sm,ASK,CH		Small rearrangement	Fr.	Stop at 558	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1080 03-GA18-S25L-984 Male Heterozygous CAUSAL W97 9 1081 03-GA18-P09E-989 Male Heterozygous CAUSAL W97 9 1104 03-MI07-S21Z-961 Female Heterozygous CAUSAL W97 9
p.Lys559X	c.1675A>T	10	559	Sm,ASK,CH		Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1211 03-CI01-L21C-961 Male Heterozygous CAUSAL 0
	c.1691_1694delinsCCAACGAAAATGAAG	10	565	Sm,ASK,CH		Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1184 03-JE01-L09L-946 Female Heterozygous CAUSAL 0
	c.1691_1694delinsCCACCAAGATGAA	10	565			Small rearrangement	indels	indels	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1957 04-JE01-Y15-004 Male LIKELY CAUSAL 0
p.Leu565ArgfsX23	c.1694delT	10	565	Sm,ASK,CH		Small rearrangement	Fr.	Stop at 587	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1603 02-PE20-T08O-990 Male Heterozygous CAUSAL W2032 0
p.Val566GlyfsX23	c.1695_1696dup	10	565	Sm,ASK,CH		Small rearrangement	Fr.	Stop at 588	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1250 03-MU12-J21L-993 Male Heterozygous CAUSAL w255 0 1256 03-GA21-B18I-960 Female Heterozygous CAUSAL 0
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
p.X611Spl.ext175	c.IVS10+39T>G (c.1833+39T>G)	10	611			Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 217 04-LA14-C08R-970 Male Heterozygous UV 0 218 04-MO18-L15I-983 Male Heterozygous UV 0