Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80108679_80116948del	CA913184754	GAA	c.1195-18_2190-20del c.1195-18_*328-20del
17	g.80108678_80116951del	CA658795244	GAA	c.1195-19_2190-17del c.1195-19_*328-17del	ClinVar
17	g.80110786_80110801delinsGGAGGACATGGTGGCT	CA2277814090	GAA	c.1497_1512delinsGGAGGACATGGTGGCT (p.Trp499=)
17	g.80110787G>A	CA401367013	GAA	c.1498G>A (p.Glu500Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110787G>C	CA401367015	GAA	c.1498G>C (p.Glu500Gln)
17	g.80110787G=	CA2277814091	GAA	c.1498G= (p.Glu500=)
17	g.80110787G>T	CA401367017	GAA	c.1498G>T (p.Glu500Ter)
17	g.80110790_80110804del	CA16620647	GAA	c.1501_1515del (p.Asp501_Glu505del)	ClinVar dbSNP gnomAD v4
17	g.80110788A=	CA2277814092	GAA	c.1499A= (p.Glu500=)
17	g.80110788A>C	CA401367020	GAA	c.1499A>C (p.Glu500Ala)
17	g.80110788A>G	CA401367022	GAA	c.1499A>G (p.Glu500Gly)	dbSNP gnomAD v4
17	g.80110788A>T	CA401367021	GAA	c.1499A>T (p.Glu500Val)
17	g.80110789G>A	CA294894891	GAA	c.1500G>A (p.Glu500=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110789G>C	CA401367024	GAA	c.1500G>C (p.Glu500Asp)	gnomAD v4
17	g.80110789G=	CA2277814093	GAA	c.1500G= (p.Glu500=)
17	g.80110789G>T	CA401367026	GAA	c.1500G>T (p.Glu500Asp)
17	g.80110790G>A	CA401367028	GAA	c.1501G>A (p.Asp501Asn)
17	g.80110790G>C	CA401367029	GAA	c.1501G>C (p.Asp501His)
17	g.80110790G>T	CA401367031	GAA	c.1501G>T (p.Asp501Tyr)
17	g.80110791A>C	CA401367033	GAA	c.1502A>C (p.Asp501Ala)
17	g.80110791A>G	CA401367034	GAA	c.1502A>G (p.Asp501Gly)	ClinVar dbSNP COSMIC
17	g.80110791A>T	CA401367036	GAA	c.1502A>T (p.Asp501Val)
17	g.80110792C>A	CA401367038	GAA	c.1503C>A (p.Asp501Glu)
17	g.80110792C>G	CA401367040	GAA	c.1503C>G (p.Asp501Glu)
17	g.80110792C>T	CA502178563	GAA	c.1503C>T (p.Asp501=)
17	g.80110793A=	CA2277814094	GAA	c.1504A= (p.Met502=)
17	g.80110793A>C	CA401367042	GAA	c.1504A>C (p.Met502Leu)	gnomAD v4
17	g.80110793A>G	CA8815358	GAA	c.1504A>G (p.Met502Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110793A>T	CA401367045	GAA	c.1504A>T (p.Met502Leu)
17	g.80110793_80110796delinsATGG	CA2277814095	GAA	c.1504_1507delinsATGG (p.Met502=)
17	g.80110794T>A	CA401367051	GAA	c.1505T>A (p.Met502Lys)
17	g.80110794T>C	CA401367048	GAA	c.1505T>C (p.Met502Thr)	dbSNP
17	g.80110794T>G	CA401367049	GAA	c.1505T>G (p.Met502Arg)	dbSNP
17	g.80110794T=	CA2277814096	GAA	c.1505T= (p.Met502=)
17	g.80110797_80110799del	CA627699576	GAA	c.1508_1510del (p.Val503del)	dbSNP gnomAD v2
17	g.80110795G>A	CA401367053	GAA	c.1506G>A (p.Met502Ile)
17	g.80110795G>C	CA401367055	GAA	c.1506G>C (p.Met502Ile)
17	g.80110795G>T	CA401367057	GAA	c.1506G>T (p.Met502Ile)
17	g.80110796del	CA2695227094	GAA	c.1507del (p.Val503TrpfsTer17)
17	g.80110796G>A	CA401367059	GAA	c.1507G>A (p.Val503Met)
17	g.80110796G>C	CA401367061	GAA	c.1507G>C (p.Val503Leu)
17	g.80110796G>T	CA401367063	GAA	c.1507G>T (p.Val503Leu)
17	g.80110797T>A	CA401367065	GAA	c.1508T>A (p.Val503Glu)
17	g.80110797T>C	CA401367066	GAA	c.1508T>C (p.Val503Ala)	ClinVar
17	g.80110797T>G	CA401367067	GAA	c.1508T>G (p.Val503Gly)
17	g.80110798G>A	CA502178573	GAA	c.1509G>A (p.Val503=)	ClinVar dbSNP gnomAD v4
17	g.80110798G>C	CA502178572	GAA	c.1509G>C (p.Val503=)
17	g.80110798G>T	CA502178571	GAA	c.1509G>T (p.Val503=)
17	g.80110798_80110800del	CA658795258	GAA	c.1509_1511del (p.Ala504del)
17	g.80110799G>A	CA401367068	GAA	c.1510G>A (p.Ala504Thr)	ClinVar dbSNP gnomAD v4
17	g.80110799G>C	CA401367069	GAA	c.1510G>C (p.Ala504Pro)
17	g.80110799G>T	CA401367070	GAA	c.1510G>T (p.Ala504Ser)	gnomAD v4
17	g.80110800C>A	CA401367072	GAA	c.1511C>A (p.Ala504Asp)
17	g.80110800C>G	CA401367073	GAA	c.1511C>G (p.Ala504Gly)
17	g.80110800C>T	CA401367071	GAA	c.1511C>T (p.Ala504Val)	gnomAD v4
17	g.80110801T>A	CA502178575	GAA	c.1512T>A (p.Ala504=)
17	g.80110801T>C	CA502178576	GAA	c.1512T>C (p.Ala504=)
17	g.80110801T>G	CA502178577	GAA	c.1512T>G (p.Ala504=)
17	g.80110802G>A	CA401367075	GAA	c.1513G>A (p.Glu505Lys)
17	g.80110802G>C	CA401367074	GAA	c.1513G>C (p.Glu505Gln)
17	g.80110802G>T	CA401367076	GAA	c.1513G>T (p.Glu505Ter)	gnomAD v4
17	g.80110803A=	CA2277814097	GAA	c.1514A= (p.Glu505=)
17	g.80110803A>C	CA401367077	GAA	c.1514A>C (p.Glu505Ala)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110803A>G	CA401367078	GAA	c.1514A>G (p.Glu505Gly)
17	g.80110803A>T	CA401367079	GAA	c.1514A>T (p.Glu505Val)
17	g.80110804G>A	CA502178578	GAA	c.1515G>A (p.Glu505=)	gnomAD v4
17	g.80110804G>C	CA401367080	GAA	c.1515G>C (p.Glu505Asp)
17	g.80110804G>T	CA401367081	GAA	c.1515G>T (p.Glu505Asp)
17	g.80110805T>A	CA401367082	GAA	c.1516T>A (p.Phe506Ile)
17	g.80110805T>C	CA401367083	GAA	c.1516T>C (p.Phe506Leu)
17	g.80110805T>G	CA401367084	GAA	c.1516T>G (p.Phe506Val)
17	g.80110806T>A	CA401367085	GAA	c.1517T>A (p.Phe506Tyr)
17	g.80110806T>C	CA401367086	GAA	c.1517T>C (p.Phe506Ser)
17	g.80110806T>G	CA401367087	GAA	c.1517T>G (p.Phe506Cys)
17	g.80110806T=	CA2277814098	GAA	c.1517T= (p.Phe506=)
17	g.80110807C>A	CA401367088	GAA	c.1518C>A (p.Phe506Leu)
17	g.80110807C=	CA2277814099	GAA	c.1518C= (p.Phe506=)
17	g.80110807C>G	CA401367089	GAA	c.1518C>G (p.Phe506Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110807C>T	CA502178579	GAA	c.1518C>T (p.Phe506=)	ClinVar dbSNP
17	g.80110808dup	CA1139665922	GAA	c.1519dup (p.His507ProfsTer2)	ClinVar dbSNP
17	g.80110808C>A	CA401367090	GAA	c.1519C>A (p.His507Asn)
17	g.80110808C>G	CA401367092	GAA	c.1519C>G (p.His507Asp)
17	g.80110808C>T	CA401367091	GAA	c.1519C>T (p.His507Tyr)	gnomAD v4
17	g.80110809A>C	CA401367093	GAA	c.1520A>C (p.His507Pro)
17	g.80110809A>G	CA401367094	GAA	c.1520A>G (p.His507Arg)
17	g.80110809A>T	CA401367095	GAA	c.1520A>T (p.His507Leu)
17	g.80110810T>A	CA401367096	GAA	c.1521T>A (p.His507Gln)
17	g.80110810T>C	CA294894897	GAA	c.1521T>C (p.His507=)	dbSNP gnomAD v4
17	g.80110810T>G	CA401367097	GAA	c.1521T>G (p.His507Gln)
17	g.80110810T=	CA2277814100	GAA	c.1521T= (p.His507=)
17	g.80110811G>A	CA401367098	GAA	c.1522G>A (p.Asp508Asn)
17	g.80110811G>C	CA401367099	GAA	c.1522G>C (p.Asp508His)
17	g.80110811G>T	CA401367100	GAA	c.1522G>T (p.Asp508Tyr)	dbSNP gnomAD v4
17	g.80110812A>C	CA401367101	GAA	c.1523A>C (p.Asp508Ala)
17	g.80110812A>G	CA401367102	GAA	c.1523A>G (p.Asp508Gly)
17	g.80110812A>T	CA401367103	GAA	c.1523A>T (p.Asp508Val)
17	g.80110813C>A	CA401367105	GAA	c.1524C>A (p.Asp508Glu)
17	g.80110813C>G	CA401367104	GAA	c.1524C>G (p.Asp508Glu)
17	g.80110813C>T	CA502178584	GAA	c.1524C>T (p.Asp508=)	gnomAD v4
17	g.80110814C>A	CA401367106	GAA	c.1525C>A (p.Gln509Lys)
17	g.80110814C>G	CA401367108	GAA	c.1525C>G (p.Gln509Glu)
17	g.80110814C>T	CA401367107	GAA	c.1525C>T (p.Gln509Ter)	ClinVar
17	g.80110815A=	CA2277814101	GAA	c.1526A= (p.Gln509=)
17	g.80110815A>C	CA401367109	GAA	c.1526A>C (p.Gln509Pro)
17	g.80110815A>G	CA401367110	GAA	c.1526A>G (p.Gln509Arg)
17	g.80110815A>T	CA401367111	GAA	c.1526A>T (p.Gln509Leu)	dbSNP
17	g.80110816G>A	CA502178586	GAA	c.1527G>A (p.Gln509=)	ClinVar
17	g.80110816G>C	CA401367112	GAA	c.1527G>C (p.Gln509His)
17	g.80110816G>T	CA401367113	GAA	c.1527G>T (p.Gln509His)
17	g.80110817G>A	CA401367114	GAA	c.1528G>A (p.Val510Met)	gnomAD v4
17	g.80110817G>C	CA401367115	GAA	c.1528G>C (p.Val510Leu)
17	g.80110817G>T	CA401367116	GAA	c.1528G>T (p.Val510Leu)
17	g.80110818T>A	CA401367117	GAA	c.1529T>A (p.Val510Glu)
17	g.80110818T>C	CA401367118	GAA	c.1529T>C (p.Val510Ala)
17	g.80110818T>G	CA294894901	GAA	c.1529T>G (p.Val510Gly)	dbSNP
17	g.80110818T=	CA2277814102	GAA	c.1529T= (p.Val510=)
17	g.80110819G>A	CA502178591	GAA	c.1530G>A (p.Val510=)	dbSNP
17	g.80110819G>C	CA502178593	GAA	c.1530G>C (p.Val510=)
17	g.80110819G>T	CA502178594	GAA	c.1530G>T (p.Val510=)
17	g.80110820C>A	CA401367121	GAA	c.1531C>A (p.Pro511Thr)
17	g.80110820C>G	CA401367120	GAA	c.1531C>G (p.Pro511Ala)
17	g.80110820C>T	CA401367119	GAA	c.1531C>T (p.Pro511Ser)	gnomAD v4
17	g.80110821C>A	CA401367122	GAA	c.1532C>A (p.Pro511His)
17	g.80110821C=	CA2277814103	GAA	c.1532C= (p.Pro511=)
17	g.80110821C>G	CA401367123	GAA	c.1532C>G (p.Pro511Arg)
17	g.80110821C>T	CA294894906	GAA	c.1532C>T (p.Pro511Leu)	ClinVar dbSNP gnomAD v4
17	g.80110822C>A	CA502178597	GAA	c.1533C>A (p.Pro511=)
17	g.80110822C=	CA2277814104	GAA	c.1533C= (p.Pro511=)
17	g.80110822C>G	CA502178599	GAA	c.1533C>G (p.Pro511=)	ClinVar dbSNP gnomAD v4
17	g.80110822C>T	CA502178600	GAA	c.1533C>T (p.Pro511=)
17	g.80110823T>A	CA401367124	GAA	c.1534T>A (p.Phe512Ile)
17	g.80110823T>C	CA401367125	GAA	c.1534T>C (p.Phe512Leu)
17	g.80110823T>G	CA401367126	GAA	c.1534T>G (p.Phe512Val)	gnomAD v4
17	g.80110824T>A	CA401367127	GAA	c.1535T>A (p.Phe512Tyr)
17	g.80110824T>C	CA401367128	GAA	c.1535T>C (p.Phe512Ser)
17	g.80110824T>G	CA401367129	GAA	c.1535T>G (p.Phe512Cys)
17	g.80110825C>A	CA8815360	GAA	c.1536C>A (p.Phe512Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110825C=	CA2277814105	GAA	c.1536C= (p.Phe512=)
17	g.80110825C>G	CA401367130	GAA	c.1536C>G (p.Phe512Leu)
17	g.80110825C>T	CA8815359	GAA	c.1536C>T (p.Phe512=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80110826G>A	CA8815361	GAA	c.1537G>A (p.Asp513Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110826G>C	CA401367132	GAA	c.1537G>C (p.Asp513His)	gnomAD v4
17	g.80110826G=	CA2277814106	GAA	c.1537G= (p.Asp513=)
17	g.80110826G>T	CA401367131	GAA	c.1537G>T (p.Asp513Tyr)
17	g.80110827A=	CA2277814107	GAA	c.1538A= (p.Asp513=)
17	g.80110827A>C	CA401367133	GAA	c.1538A>C (p.Asp513Ala)
17	g.80110827A>G	CA401367134	GAA	c.1538A>G (p.Asp513Gly)	ClinVar dbSNP
17	g.80110827A>T	CA401367135	GAA	c.1538A>T (p.Asp513Val)
17	g.80110828C>A	CA401367136	GAA	c.1539C>A (p.Asp513Glu)
17	g.80110828C=	CA2277814108	GAA	c.1539C= (p.Asp513=)
17	g.80110828C>G	CA401367137	GAA	c.1539C>G (p.Asp513Glu)	gnomAD v4
17	g.80110828C>T	CA8815362	GAA	c.1539C>T (p.Asp513=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110828_80110829delinsCG	CA2277814109	GAA	c.1539_1540delinsCG (p.Asp513=)
17	g.80110829G>A	CA8815363	GAA	c.1540G>A (p.Gly514Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110829G>C	CA401367139	GAA	c.1540G>C (p.Gly514Arg)
17	g.80110829G=	CA2277814111	GAA	c.1540G= (p.Gly514=)
17	g.80110829G>T	CA401367138	GAA	c.1540G>T (p.Gly514Cys)
17	g.80110830del	CA2277814110	GAA	c.1541del (p.Gly514AlafsTer6)	ClinVar dbSNP
17	g.80110829_80110832dup	CA2640288557	GAA	c.1540_1543dup (p.Met515ArgfsTer5)	gnomAD v4
17	g.80110830G>A	CA401367140	GAA	c.1541G>A (p.Gly514Asp)
17	g.80110830G>C	CA401367141	GAA	c.1541G>C (p.Gly514Ala)	gnomAD v4
17	g.80110830G>T	CA401367142	GAA	c.1541G>T (p.Gly514Val)
17	g.80110831C>A	CA502178602	GAA	c.1542C>A (p.Gly514=)
17	g.80110831C=	CA2277814112	GAA	c.1542C= (p.Gly514=)
17	g.80110831C>G	CA502178603	GAA	c.1542C>G (p.Gly514=)
17	g.80110831C>T	CA502178604	GAA	c.1542C>T (p.Gly514=)	dbSNP
17	g.80110832A=	CA2277814113	GAA	c.1543A= (p.Met515=)
17	g.80110832A>C	CA401367143	GAA	c.1543A>C (p.Met515Leu)	dbSNP gnomAD v4
17	g.80110832A>G	CA401367144	GAA	c.1543A>G (p.Met515Val)
17	g.80110832A>T	CA401367145	GAA	c.1543A>T (p.Met515Leu)	gnomAD v4
17	g.80110832_80110833del	CA2576414101	GAA	c.1543_1544del (p.Met515ValfsTer3)
17	g.80110833T>A	CA401367146	GAA	c.1544T>A (p.Met515Lys)
17	g.80110833T>C	CA401367148	GAA	c.1544T>C (p.Met515Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110833T>G	CA401367147	GAA	c.1544T>G (p.Met515Arg)
17	g.80110833T=	CA2277814114	GAA	c.1544T= (p.Met515=)
17	g.80110834G>A	CA401367149	GAA	c.1545G>A (p.Met515Ile)
17	g.80110834G>C	CA401367150	GAA	c.1545G>C (p.Met515Ile)
17	g.80110834G>T	CA401367151	GAA	c.1545G>T (p.Met515Ile)
17	g.80110835T>A	CA401367152	GAA	c.1546T>A (p.Trp516Arg)
17	g.80110835T>C	CA401367153	GAA	c.1546T>C (p.Trp516Arg)	ClinVar
17	g.80110835T>G	CA401367154	GAA	c.1546T>G (p.Trp516Gly)
17	g.80110836G>A	CA401367155	GAA	c.1547G>A (p.Trp516Ter)	ClinVar dbSNP
17	g.80110836G>C	CA401367156	GAA	c.1547G>C (p.Trp516Ser)
17	g.80110836G=	CA2277814115	GAA	c.1547G= (p.Trp516=)
17	g.80110836G>T	CA401367157	GAA	c.1547G>T (p.Trp516Leu)
17	g.80110837G>A	CA274281	GAA	c.1548G>A (p.Trp516Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110837G>C	CA401367158	GAA	c.1548G>C (p.Trp516Cys)
17	g.80110837G=	CA2277814116	GAA	c.1548G= (p.Trp516=)
17	g.80110837G>T	CA401367159	GAA	c.1548G>T (p.Trp516Cys)
17	g.80110838A=	CA2277814117	GAA	c.1549A= (p.Ile517=)
17	g.80110838A>C	CA401367160	GAA	c.1549A>C (p.Ile517Leu)	dbSNP gnomAD v4
17	g.80110838A>G	CA8815364	GAA	c.1549A>G (p.Ile517Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110838A>T	CA401367161	GAA	c.1549A>T (p.Ile517Phe)
17	g.80110839T>A	CA401367162	GAA	c.1550T>A (p.Ile517Asn)
17	g.80110839T>C	CA401367163	GAA	c.1550T>C (p.Ile517Thr)
17	g.80110839T>G	CA401367164	GAA	c.1550T>G (p.Ile517Ser)
17	g.80110840T>A	CA502178612	GAA	c.1551T>A (p.Ile517=)
17	g.80110840T>C	CA294894931	GAA	c.1551T>C (p.Ile517=)	dbSNP gnomAD v4
17	g.80110840T>G	CA401367165	GAA	c.1551T>G (p.Ile517Met)
17	g.80110840T=	CA2277814118	GAA	c.1551T= (p.Ile517=)
17	g.80110841del	CA2640288616	GAA	c.1551+1del (n.1551+1del)	gnomAD v4
17	g.80110841G>A	CA401367166	GAA	c.1551+1G>A (n.1551+1G>A)	ClinVar dbSNP
17	g.80110841G>C	CA401367167	GAA	c.1551+1G>C (n.1551+1G>C)	ClinVar dbSNP gnomAD v4
17	g.80110841G=	CA2277814119	GAA	c.1551+1G= (n.1551+1G=)
17	g.80110841G>T	CA8815365	GAA	c.1551+1G>T (n.1551+1G>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110843_80110846del	CA913187388	GAA	c.1551+3_1551+6del (n.1551+3_1551+6del)
17	g.80110842T>A	CA401367168	GAA	c.1551+2T>A (n.1551+2T>A)
17	g.80110842T>C	CA401367169	GAA	c.1551+2T>C (n.1551+2T>C)
17	g.80110842T>G	CA401367170	GAA	c.1551+2T>G (n.1551+2T>G)
17	g.80110842dup	CA2640288624	GAA	c.1551+2dup (n.1551+2dup)	gnomAD v4
17	g.80110843A=	CA2277814120	GAA	c.1551+3A= (n.1551+3A=)
17	g.80110843A>T	CA2277814121	GAA	c.1551+3A>T (n.1551+3A>T)	dbSNP
17	g.80110844A=	CA2277814122	GAA	c.1551+4A= (n.1551+4A=)
17	g.80110844A>C	CA2580095757	GAA	c.1551+4A>C (n.1551+4A>C)	ClinVar
17	g.80110844A>G	CA627699577	GAA	c.1551+4A>G (n.1551+4A>G)	dbSNP gnomAD v2 gnomAD v4
17	g.80110845G>A	CA1139665923	GAA	c.1551+5G>A (n.1551+5G>A)	ClinVar dbSNP
17	g.80110845G=	CA2277814123	GAA	c.1551+5G= (n.1551+5G=)
17	g.80110846T>C	CA627699578	GAA	c.1551+6T>C (n.1551+6T>C)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110846T=	CA2277814124	GAA	c.1551+6T= (n.1551+6T=)
17	g.80110847G>A	CA627699579	GAA	c.1551+7G>A (n.1551+7G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110847G=	CA2277814125	GAA	c.1551+7G= (n.1551+7G=)
17	g.80110847G>T	CA2499225012	GAA	c.1551+7G>T (n.1551+7G>T)	ClinVar dbSNP gnomAD v4
17	g.80110848T>C	CA627699580	GAA	c.1551+8T>C (n.1551+8T>C)	dbSNP gnomAD v2 gnomAD v4
17	g.80110848T=	CA2277814126	GAA	c.1551+8T= (n.1551+8T=)
17	g.80110850dup	CA2573154973	GAA	c.1551+10dup (n.1551+10dup)	ClinVar dbSNP
17	g.80110850G>A	CA2697555222	GAA	c.1551+10G>A (n.1551+10G>A)	ClinVar
17	g.80110850G=	CA2277814127	GAA	c.1551+10G= (n.1551+10G=)
17	g.80110850G>T	CA294894938	GAA	c.1551+10G>T (n.1551+10G>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80110851C>A	CA2640288662	GAA	c.1551+11C>A (n.1551+11C>A)	gnomAD v4
17	g.80110851C=	CA2277814129	GAA	c.1551+11C= (n.1551+11C=)
17	g.80110851C>T	CA2277814128	GAA	c.1551+11C>T (n.1551+11C>T)	ClinVar dbSNP gnomAD v4
17	g.80110855dup	CA2810585811	GAA	c.1551+15dup (n.1551+15dup)
17	g.80110855del	CA2580095758	GAA	c.1551+15del (n.1551+15del)	ClinVar gnomAD v4
17	g.80110852C>A	CA16607901	GAA	c.1551+12C>A (n.1551+12C>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110852C=	CA2277814130	GAA	c.1551+12C= (n.1551+12C=)
17	g.80110853C=	CA2277814131	GAA	c.1551+13C= (n.1551+13C=)
17	g.80110853C>G	CA2277814132	GAA	c.1551+13C>G (n.1551+13C>G)	dbSNP
17	g.80110854C=	CA2277814133	GAA	c.1551+14C= (n.1551+14C=)
17	g.80110854C>T	CA2277814134	GAA	c.1551+14C>T (n.1551+14C>T)	dbSNP
17	g.80110855C=	CA2277814135	GAA	c.1551+15C= (n.1551+15C=)
17	g.80110855C>G	CA8815366	GAA	c.1551+15C>G (n.1551+15C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110855C>T	CA2640288676	GAA	c.1551+15C>T (n.1551+15C>T)	gnomAD v4
17	g.80110857C=	CA2277814136	GAA	c.1551+17C= (n.1551+17C=)
17	g.80110857C>T	CA627699581	GAA	c.1551+17C>T (n.1551+17C>T)	dbSNP gnomAD v2 gnomAD v4
17	g.80110859T>G	CA2640288683	GAA	c.1551+19T>G (n.1551+19T>G)	gnomAD v4
17	g.80110860G>A	CA627699582	GAA	c.1551+20G>A (n.1551+20G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80110860G=	CA2277814137	GAA	c.1551+20G= (n.1551+20G=)
17	g.80110861A=	CA2277814138	GAA	c.1551+21A= (n.1551+21A=)
17	g.80110861A>C	CA8815367	GAA	c.1551+21A>C (n.1551+21A>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110861A>G	CA2640288696	GAA	c.1551+21A>G (n.1551+21A>G)	gnomAD v4
17	g.80110862G>C	CA2576414102	GAA	c.1551+22G>C (n.1551+22G>C)
17	g.80110863C>A	CA775516718	GAA	c.1551+23C>A (n.1551+23C>A)	dbSNP gnomAD v3 gnomAD v4
17	g.80110863C=	CA2277814139	GAA	c.1551+23C= (n.1551+23C=)
17	g.80110863C>T	CA627699583	GAA	c.1551+23C>T (n.1551+23C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110864A>G	CA2640288706	GAA	c.1551+24A>G (n.1551+24A>G)	gnomAD v4
17	g.80110864A>T	CA2640288709	GAA	c.1551+24A>T (n.1551+24A>T)	gnomAD v4
17	g.80110865T>C	CA8815368	GAA	c.1551+25T>C (n.1551+25T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110865T=	CA2277814140	GAA	c.1551+25T= (n.1551+25T=)
17	g.80110867C>A	CA2640288710	GAA	c.1551+27C>A (n.1551+27C>A)	gnomAD v4
17	g.80110868C=	CA2277814141	GAA	c.1551+28C= (n.1551+28C=)
17	g.80110868C>G	CA775516719	GAA	c.1551+28C>G (n.1551+28C>G)	dbSNP gnomAD v4
17	g.80110869C>T	CA2640288711	GAA	c.1551+29C>T (n.1551+29C>T)	gnomAD v4
17	g.80110870_80110871insG	CA2576414103	GAA	c.1551+30_1551+31insG (n.1551+30_1551+31insG)	gnomAD v4
17	g.80110874C>A	CA2640288712	GAA	c.1551+34C>A (n.1551+34C>A)	gnomAD v4
17	g.80110875C=	CA2277814142	GAA	c.1551+35C= (n.1551+35C=)
17	g.80110875C>G	CA2640288713	GAA	c.1551+35C>G (n.1551+35C>G)	gnomAD v4
17	g.80110875C>T	CA8815369	GAA	c.1551+35C>T (n.1551+35C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80110876T>C	CA2640288714	GAA	c.1551+36T>C (n.1551+36T>C)	gnomAD v4
17	g.80110877del	CA2576414104	GAA	c.1551+37del (n.1551+37del)	gnomAD v4
17	g.80110882_80110883insTAGTCCCCAGAGGCCTTGGGG	CA2640288715	GAA	c.1551+42_1551+43insTAGTCCCCAGAGGCCTTGGGG (n.1551+42_1551+43insTAGTCCCCAGAGGCCTTGGGG)	gnomAD v4
17	g.80110879G>A	CA8815370	GAA	c.1551+39G>A (n.1551+39G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110879G=	CA2277814143	GAA	c.1551+39G= (n.1551+39G=)
17	g.80110879G>T	CA2576414105	GAA	c.1551+39G>T (n.1551+39G>T)
17	g.80110882del	CA2640288716	GAA	c.1551+42del (n.1551+42del)	gnomAD v4
17	g.80110882G>A	CA8815371	GAA	c.1551+42G>A (n.1551+42G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110882G>C	CA2581285034	GAA	c.1551+42G>C (n.1551+42G>C)
17	g.80110882G=	CA2277814144	GAA	c.1551+42G= (n.1551+42G=)
17	g.80110882G>T	CA2581285035	GAA	c.1551+42G>T (n.1551+42G>T)
17	g.80110884C=	CA2277814145	GAA	c.1551+44C= (n.1551+44C=)
17	g.80110884C>T	CA2277814146	GAA	c.1551+44C>T (n.1551+44C>T)	dbSNP
17	g.80110887C>A	CA627699584	GAA	c.1551+47C>A (n.1551+47C>A)	dbSNP gnomAD v2 gnomAD v4
17	g.80110887C=	CA2277814147	GAA	c.1551+47C= (n.1551+47C=)
17	g.80110887C>T	CA2640288719	GAA	c.1551+47C>T (n.1551+47C>T)	gnomAD v4

Number of alleles fetched