Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.4787949T>ACA432322277ITPR1c.6629T>A (n.6629T>A)
c.6594T>A (p.Ile2198=)
c.6573T>A (p.Ile2191=)
c.6474T>A (p.Ile2158=)
c.6429T>A (p.Ile2143=)
n.510T>A
c.997-18154T>A (n.997-18154T>A)
c.2517T>A
n.4122T>A
c.2953T>A
c.4380T>A (p.Ile1460=)
c.3526T>A
c.6591T>A (p.Ile2197=)
c.6546T>A (p.Ile2182=)
c.447-58190T>A
c.3920T>A
n.452T>A
c.6618T>A (p.Ile2206=)
n.1666T>A
n.180T>A
n.4103T>A
c.6576T>A (p.Ile2192=)
c.6549T>A (p.Ile2183=)
c.6501T>A (p.Ile2167=)
c.6552T>A (p.Ile2184=)
c.6621T>A (p.Ile2207=)
c.6588T>A (p.Ile2196=)
c.6585T>A (p.Ile2195=)
c.6510T>A (p.Ile2170=)
3g.4787949T>CCA432322279ITPR1c.6629T>C (n.6629T>C)
c.6594T>C (p.Ile2198=)
c.6573T>C (p.Ile2191=)
c.6474T>C (p.Ile2158=)
c.6429T>C (p.Ile2143=)
n.510T>C
c.997-18154T>C (n.997-18154T>C)
c.2517T>C
n.4122T>C
c.2953T>C
c.4380T>C (p.Ile1460=)
c.3526T>C
c.6591T>C (p.Ile2197=)
c.6546T>C (p.Ile2182=)
c.447-58190T>C
c.3920T>C
n.452T>C
c.6618T>C (p.Ile2206=)
n.1666T>C
n.180T>C
n.4103T>C
c.6576T>C (p.Ile2192=)
c.6549T>C (p.Ile2183=)
c.6501T>C (p.Ile2167=)
c.6552T>C (p.Ile2184=)
c.6621T>C (p.Ile2207=)
c.6588T>C (p.Ile2196=)
c.6585T>C (p.Ile2195=)
c.6510T>C (p.Ile2170=)
3g.4787949T>GCA351640426ITPR1c.6629T>G (n.6629T>G)
c.6594T>G (p.Ile2198Met)
c.6573T>G (p.Ile2191Met)
c.6474T>G (p.Ile2158Met)
c.6429T>G (p.Ile2143Met)
n.510T>G
c.997-18154T>G (n.997-18154T>G)
c.2517T>G
n.4122T>G
c.2953T>G
c.4380T>G (p.Ile1460Met)
c.3526T>G
c.6591T>G (p.Ile2197Met)
c.6546T>G (p.Ile2182Met)
c.447-58190T>G
c.3920T>G
n.452T>G
c.6618T>G (p.Ile2206Met)
n.1666T>G
n.180T>G
n.4103T>G
c.6576T>G (p.Ile2192Met)
c.6549T>G (p.Ile2183Met)
c.6501T>G (p.Ile2167Met)
c.6552T>G (p.Ile2184Met)
c.6621T>G (p.Ile2207Met)
c.6588T>G (p.Ile2196Met)
c.6585T>G (p.Ile2195Met)
c.6510T>G (p.Ile2170Met)
3g.4787950G>ACA351640427ITPR1c.6630G>A (n.6630G>A)
c.6595G>A (p.Val2199Ile)
c.6574G>A (p.Val2192Ile)
c.6475G>A (p.Val2159Ile)
c.6430G>A (p.Val2144Ile)
n.511G>A
c.997-18153G>A (n.997-18153G>A)
c.2518G>A
n.4123G>A
c.2954G>A
c.4381G>A (p.Val1461Ile)
c.3527G>A
c.6592G>A (p.Val2198Ile)
c.6547G>A (p.Val2183Ile)
c.447-58189G>A
c.3921G>A
n.453G>A
c.6619G>A (p.Val2207Ile)
n.1667G>A
n.181G>A
n.4104G>A
c.6577G>A (p.Val2193Ile)
c.6550G>A (p.Val2184Ile)
c.6502G>A (p.Val2168Ile)
c.6553G>A (p.Val2185Ile)
c.6622G>A (p.Val2208Ile)
c.6589G>A (p.Val2197Ile)
c.6586G>A (p.Val2196Ile)
c.6511G>A (p.Val2171Ile)
3g.4787950G>CCA351640429ITPR1c.6630G>C (n.6630G>C)
c.6595G>C (p.Val2199Leu)
c.6574G>C (p.Val2192Leu)
c.6475G>C (p.Val2159Leu)
c.6430G>C (p.Val2144Leu)
n.511G>C
c.997-18153G>C (n.997-18153G>C)
c.2518G>C
n.4123G>C
c.2954G>C
c.4381G>C (p.Val1461Leu)
c.3527G>C
c.6592G>C (p.Val2198Leu)
c.6547G>C (p.Val2183Leu)
c.447-58189G>C
c.3921G>C
n.453G>C
c.6619G>C (p.Val2207Leu)
n.1667G>C
n.181G>C
n.4104G>C
c.6577G>C (p.Val2193Leu)
c.6550G>C (p.Val2184Leu)
c.6502G>C (p.Val2168Leu)
c.6553G>C (p.Val2185Leu)
c.6622G>C (p.Val2208Leu)
c.6589G>C (p.Val2197Leu)
c.6586G>C (p.Val2196Leu)
c.6511G>C (p.Val2171Leu)
3g.4787950G>TCA351640428ITPR1c.6630G>T (n.6630G>T)
c.6595G>T (p.Val2199Phe)
c.6574G>T (p.Val2192Phe)
c.6475G>T (p.Val2159Phe)
c.6430G>T (p.Val2144Phe)
n.511G>T
c.997-18153G>T (n.997-18153G>T)
c.2518G>T
n.4123G>T
c.2954G>T
c.4381G>T (p.Val1461Phe)
c.3527G>T
c.6592G>T (p.Val2198Phe)
c.6547G>T (p.Val2183Phe)
c.447-58189G>T
c.3921G>T
n.453G>T
c.6619G>T (p.Val2207Phe)
n.1667G>T
n.181G>T
n.4104G>T
c.6577G>T (p.Val2193Phe)
c.6550G>T (p.Val2184Phe)
c.6502G>T (p.Val2168Phe)
c.6553G>T (p.Val2185Phe)
c.6622G>T (p.Val2208Phe)
c.6589G>T (p.Val2197Phe)
c.6586G>T (p.Val2196Phe)
c.6511G>T (p.Val2171Phe)
3g.4787951T>ACA351640430ITPR1c.6631T>A (n.6631T>A)
c.6596T>A (p.Val2199Asp)
c.6575T>A (p.Val2192Asp)
c.6476T>A (p.Val2159Asp)
c.6431T>A (p.Val2144Asp)
n.512T>A
c.997-18152T>A (n.997-18152T>A)
c.2519T>A
n.4124T>A
c.2955T>A
c.4382T>A (p.Val1461Asp)
c.3528T>A
c.6593T>A (p.Val2198Asp)
c.6548T>A (p.Val2183Asp)
c.447-58188T>A
c.3922T>A
n.454T>A
c.6620T>A (p.Val2207Asp)
n.1668T>A
n.182T>A
n.4105T>A
c.6578T>A (p.Val2193Asp)
c.6551T>A (p.Val2184Asp)
c.6503T>A (p.Val2168Asp)
c.6554T>A (p.Val2185Asp)
c.6623T>A (p.Val2208Asp)
c.6590T>A (p.Val2197Asp)
c.6587T>A (p.Val2196Asp)
c.6512T>A (p.Val2171Asp)
3g.4787951T>CCA351640432ITPR1c.6631T>C (n.6631T>C)
c.6596T>C (p.Val2199Ala)
c.6575T>C (p.Val2192Ala)
c.6476T>C (p.Val2159Ala)
c.6431T>C (p.Val2144Ala)
n.512T>C
c.997-18152T>C (n.997-18152T>C)
c.2519T>C
n.4124T>C
c.2955T>C
c.4382T>C (p.Val1461Ala)
c.3528T>C
c.6593T>C (p.Val2198Ala)
c.6548T>C (p.Val2183Ala)
c.447-58188T>C
c.3922T>C
n.454T>C
c.6620T>C (p.Val2207Ala)
n.1668T>C
n.182T>C
n.4105T>C
c.6578T>C (p.Val2193Ala)
c.6551T>C (p.Val2184Ala)
c.6503T>C (p.Val2168Ala)
c.6554T>C (p.Val2185Ala)
c.6623T>C (p.Val2208Ala)
c.6590T>C (p.Val2197Ala)
c.6587T>C (p.Val2196Ala)
c.6512T>C (p.Val2171Ala)
3g.4787951T>GCA351640431ITPR1c.6631T>G (n.6631T>G)
c.6596T>G (p.Val2199Gly)
c.6575T>G (p.Val2192Gly)
c.6476T>G (p.Val2159Gly)
c.6431T>G (p.Val2144Gly)
n.512T>G
c.997-18152T>G (n.997-18152T>G)
c.2519T>G
n.4124T>G
c.2955T>G
c.4382T>G (p.Val1461Gly)
c.3528T>G
c.6593T>G (p.Val2198Gly)
c.6548T>G (p.Val2183Gly)
c.447-58188T>G
c.3922T>G
n.454T>G
c.6620T>G (p.Val2207Gly)
n.1668T>G
n.182T>G
n.4105T>G
c.6578T>G (p.Val2193Gly)
c.6551T>G (p.Val2184Gly)
c.6503T>G (p.Val2168Gly)
c.6554T>G (p.Val2185Gly)
c.6623T>G (p.Val2208Gly)
c.6590T>G (p.Val2197Gly)
c.6587T>G (p.Val2196Gly)
c.6512T>G (p.Val2171Gly)
3g.4787952C>ACA432322297ITPR1c.6632C>A (n.6632C>A)
c.6597C>A (p.Val2199=)
c.6576C>A (p.Val2192=)
c.6477C>A (p.Val2159=)
c.6432C>A (p.Val2144=)
n.513C>A
c.997-18151C>A (n.997-18151C>A)
c.2520C>A
n.4125C>A
c.2956C>A
c.4383C>A (p.Val1461=)
c.3529C>A
c.6594C>A (p.Val2198=)
c.6549C>A (p.Val2183=)
c.447-58187C>A
c.3923C>A
n.455C>A
c.6621C>A (p.Val2207=)
n.1669C>A
n.183C>A
n.4106C>A
c.6579C>A (p.Val2193=)
c.6552C>A (p.Val2184=)
c.6504C>A (p.Val2168=)
c.6555C>A (p.Val2185=)
c.6624C>A (p.Val2208=)
c.6591C>A (p.Val2197=)
c.6588C>A (p.Val2196=)
c.6513C>A (p.Val2171=)
3g.4787952C>GCA432322299ITPR1c.6632C>G (n.6632C>G)
c.6597C>G (p.Val2199=)
c.6576C>G (p.Val2192=)
c.6477C>G (p.Val2159=)
c.6432C>G (p.Val2144=)
n.513C>G
c.997-18151C>G (n.997-18151C>G)
c.2520C>G
n.4125C>G
c.2956C>G
c.4383C>G (p.Val1461=)
c.3529C>G
c.6594C>G (p.Val2198=)
c.6549C>G (p.Val2183=)
c.447-58187C>G
c.3923C>G
n.455C>G
c.6621C>G (p.Val2207=)
n.1669C>G
n.183C>G
n.4106C>G
c.6579C>G (p.Val2193=)
c.6552C>G (p.Val2184=)
c.6504C>G (p.Val2168=)
c.6555C>G (p.Val2185=)
c.6624C>G (p.Val2208=)
c.6591C>G (p.Val2197=)
c.6588C>G (p.Val2196=)
c.6513C>G (p.Val2171=)
3g.4787952C>TCA432322303ITPR1c.6632C>T (n.6632C>T)
c.6597C>T (p.Val2199=)
c.6576C>T (p.Val2192=)
c.6477C>T (p.Val2159=)
c.6432C>T (p.Val2144=)
n.513C>T
c.997-18151C>T (n.997-18151C>T)
c.2520C>T
n.4125C>T
c.2956C>T
c.4383C>T (p.Val1461=)
c.3529C>T
c.6594C>T (p.Val2198=)
c.6549C>T (p.Val2183=)
c.447-58187C>T
c.3923C>T
n.455C>T
c.6621C>T (p.Val2207=)
n.1669C>T
n.183C>T
n.4106C>T
c.6579C>T (p.Val2193=)
c.6552C>T (p.Val2184=)
c.6504C>T (p.Val2168=)
c.6555C>T (p.Val2185=)
c.6624C>T (p.Val2208=)
c.6591C>T (p.Val2197=)
c.6588C>T (p.Val2196=)
c.6513C>T (p.Val2171=)
3g.4787953A=CA1342337410ITPR1c.6633A= (n.6633A=)
c.6598A= (p.Arg2200=)
c.6577A= (p.Arg2193=)
c.6478A= (p.Arg2160=)
c.6433A= (p.Arg2145=)
n.514A=
c.997-18150A= (n.997-18150A=)
c.2521A=
n.4126A=
c.2957A=
c.4384A= (p.Arg1462=)
c.3530A=
c.6595A= (p.Arg2199=)
c.6550A= (p.Arg2184=)
c.447-58186A=
c.3924A=
n.456A=
c.6622A= (p.Arg2208=)
n.1670A=
n.184A=
n.4107A=
c.6580A= (p.Arg2194=)
c.6553A= (p.Arg2185=)
c.6505A= (p.Arg2169=)
c.6556A= (p.Arg2186=)
c.6625A= (p.Arg2209=)
c.6592A= (p.Arg2198=)
c.6589A= (p.Arg2197=)
c.6514A= (p.Arg2172=)
3g.4787953A>CCA432322307ITPR1c.6633A>C (n.6633A>C)
c.6598A>C (p.Arg2200=)
c.6577A>C (p.Arg2193=)
c.6478A>C (p.Arg2160=)
c.6433A>C (p.Arg2145=)
n.514A>C
c.997-18150A>C (n.997-18150A>C)
c.2521A>C
n.4126A>C
c.2957A>C
c.4384A>C (p.Arg1462=)
c.3530A>C
c.6595A>C (p.Arg2199=)
c.6550A>C (p.Arg2184=)
c.447-58186A>C
c.3924A>C
n.456A>C
c.6622A>C (p.Arg2208=)
n.1670A>C
n.184A>C
n.4107A>C
c.6580A>C (p.Arg2194=)
c.6553A>C (p.Arg2185=)
c.6505A>C (p.Arg2169=)
c.6556A>C (p.Arg2186=)
c.6625A>C (p.Arg2209=)
c.6592A>C (p.Arg2198=)
c.6589A>C (p.Arg2197=)
c.6514A>C (p.Arg2172=)
 dbSNP gnomAD v2
3g.4787953A>GCA351640433ITPR1c.6633A>G (n.6633A>G)
c.6598A>G (p.Arg2200Gly)
c.6577A>G (p.Arg2193Gly)
c.6478A>G (p.Arg2160Gly)
c.6433A>G (p.Arg2145Gly)
n.514A>G
c.997-18150A>G (n.997-18150A>G)
c.2521A>G
n.4126A>G
c.2957A>G
c.4384A>G (p.Arg1462Gly)
c.3530A>G
c.6595A>G (p.Arg2199Gly)
c.6550A>G (p.Arg2184Gly)
c.447-58186A>G
c.3924A>G
n.456A>G
c.6622A>G (p.Arg2208Gly)
n.1670A>G
n.184A>G
n.4107A>G
c.6580A>G (p.Arg2194Gly)
c.6553A>G (p.Arg2185Gly)
c.6505A>G (p.Arg2169Gly)
c.6556A>G (p.Arg2186Gly)
c.6625A>G (p.Arg2209Gly)
c.6592A>G (p.Arg2198Gly)
c.6589A>G (p.Arg2197Gly)
c.6514A>G (p.Arg2172Gly)
3g.4787953A>TCA351640434ITPR1c.6633A>T (n.6633A>T)
c.6598A>T (p.Arg2200Ter)
c.6577A>T (p.Arg2193Ter)
c.6478A>T (p.Arg2160Ter)
c.6433A>T (p.Arg2145Ter)
n.514A>T
c.997-18150A>T (n.997-18150A>T)
c.2521A>T
n.4126A>T
c.2957A>T
c.4384A>T (p.Arg1462Ter)
c.3530A>T
c.6595A>T (p.Arg2199Ter)
c.6550A>T (p.Arg2184Ter)
c.447-58186A>T
c.3924A>T
n.456A>T
c.6622A>T (p.Arg2208Ter)
n.1670A>T
n.184A>T
n.4107A>T
c.6580A>T (p.Arg2194Ter)
c.6553A>T (p.Arg2185Ter)
c.6505A>T (p.Arg2169Ter)
c.6556A>T (p.Arg2186Ter)
c.6625A>T (p.Arg2209Ter)
c.6592A>T (p.Arg2198Ter)
c.6589A>T (p.Arg2197Ter)
c.6514A>T (p.Arg2172Ter)
3g.4787954G>ACA351640435ITPR1c.6634G>A (n.6634G>A)
c.6599G>A (p.Arg2200Lys)
c.6578G>A (p.Arg2193Lys)
c.6479G>A (p.Arg2160Lys)
c.6434G>A (p.Arg2145Lys)
n.515G>A
c.997-18149G>A (n.997-18149G>A)
c.2522G>A
n.4127G>A
c.2958G>A
c.4385G>A (p.Arg1462Lys)
c.3531G>A
c.6596G>A (p.Arg2199Lys)
c.6551G>A (p.Arg2184Lys)
c.447-58185G>A
c.3925G>A
n.457G>A
c.6623G>A (p.Arg2208Lys)
n.1671G>A
n.185G>A
n.4108G>A
c.6581G>A (p.Arg2194Lys)
c.6554G>A (p.Arg2185Lys)
c.6506G>A (p.Arg2169Lys)
c.6557G>A (p.Arg2186Lys)
c.6626G>A (p.Arg2209Lys)
c.6593G>A (p.Arg2198Lys)
c.6590G>A (p.Arg2197Lys)
c.6515G>A (p.Arg2172Lys)
3g.4787954G>CCA351640436ITPR1c.6634G>C (n.6634G>C)
c.6599G>C (p.Arg2200Thr)
c.6578G>C (p.Arg2193Thr)
c.6479G>C (p.Arg2160Thr)
c.6434G>C (p.Arg2145Thr)
n.515G>C
c.997-18149G>C (n.997-18149G>C)
c.2522G>C
n.4127G>C
c.2958G>C
c.4385G>C (p.Arg1462Thr)
c.3531G>C
c.6596G>C (p.Arg2199Thr)
c.6551G>C (p.Arg2184Thr)
c.447-58185G>C
c.3925G>C
n.457G>C
c.6623G>C (p.Arg2208Thr)
n.1671G>C
n.185G>C
n.4108G>C
c.6581G>C (p.Arg2194Thr)
c.6554G>C (p.Arg2185Thr)
c.6506G>C (p.Arg2169Thr)
c.6557G>C (p.Arg2186Thr)
c.6626G>C (p.Arg2209Thr)
c.6593G>C (p.Arg2198Thr)
c.6590G>C (p.Arg2197Thr)
c.6515G>C (p.Arg2172Thr)
3g.4787954G>TCA351640437ITPR1c.6634G>T (n.6634G>T)
c.6599G>T (p.Arg2200Ile)
c.6578G>T (p.Arg2193Ile)
c.6479G>T (p.Arg2160Ile)
c.6434G>T (p.Arg2145Ile)
n.515G>T
c.997-18149G>T (n.997-18149G>T)
c.2522G>T
n.4127G>T
c.2958G>T
c.4385G>T (p.Arg1462Ile)
c.3531G>T
c.6596G>T (p.Arg2199Ile)
c.6551G>T (p.Arg2184Ile)
c.447-58185G>T
c.3925G>T
n.457G>T
c.6623G>T (p.Arg2208Ile)
n.1671G>T
n.185G>T
n.4108G>T
c.6581G>T (p.Arg2194Ile)
c.6554G>T (p.Arg2185Ile)
c.6506G>T (p.Arg2169Ile)
c.6557G>T (p.Arg2186Ile)
c.6626G>T (p.Arg2209Ile)
c.6593G>T (p.Arg2198Ile)
c.6590G>T (p.Arg2197Ile)
c.6515G>T (p.Arg2172Ile)
3g.4787955A>CCA351640438ITPR1c.6635A>C (n.6635A>C)
c.6600A>C (p.Arg2200Ser)
c.6579A>C (p.Arg2193Ser)
c.6480A>C (p.Arg2160Ser)
c.6435A>C (p.Arg2145Ser)
n.516A>C
c.997-18148A>C (n.997-18148A>C)
c.2523A>C
n.4128A>C
c.2959A>C
c.4386A>C (p.Arg1462Ser)
c.3532A>C
c.6597A>C (p.Arg2199Ser)
c.6552A>C (p.Arg2184Ser)
c.447-58184A>C
c.3926A>C
n.458A>C
c.6624A>C (p.Arg2208Ser)
n.1672A>C
n.186A>C
n.4109A>C
c.6582A>C (p.Arg2194Ser)
c.6555A>C (p.Arg2185Ser)
c.6507A>C (p.Arg2169Ser)
c.6558A>C (p.Arg2186Ser)
c.6627A>C (p.Arg2209Ser)
c.6594A>C (p.Arg2198Ser)
c.6591A>C (p.Arg2197Ser)
c.6516A>C (p.Arg2172Ser)
3g.4787955A>GCA432322323ITPR1c.6635A>G (n.6635A>G)
c.6600A>G (p.Arg2200=)
c.6579A>G (p.Arg2193=)
c.6480A>G (p.Arg2160=)
c.6435A>G (p.Arg2145=)
n.516A>G
c.997-18148A>G (n.997-18148A>G)
c.2523A>G
n.4128A>G
c.2959A>G
c.4386A>G (p.Arg1462=)
c.3532A>G
c.6597A>G (p.Arg2199=)
c.6552A>G (p.Arg2184=)
c.447-58184A>G
c.3926A>G
n.458A>G
c.6624A>G (p.Arg2208=)
n.1672A>G
n.186A>G
n.4109A>G
c.6582A>G (p.Arg2194=)
c.6555A>G (p.Arg2185=)
c.6507A>G (p.Arg2169=)
c.6558A>G (p.Arg2186=)
c.6627A>G (p.Arg2209=)
c.6594A>G (p.Arg2198=)
c.6591A>G (p.Arg2197=)
c.6516A>G (p.Arg2172=)
3g.4787955A>TCA351640439ITPR1c.6635A>T (n.6635A>T)
c.6600A>T (p.Arg2200Ser)
c.6579A>T (p.Arg2193Ser)
c.6480A>T (p.Arg2160Ser)
c.6435A>T (p.Arg2145Ser)
n.516A>T
c.997-18148A>T (n.997-18148A>T)
c.2523A>T
n.4128A>T
c.2959A>T
c.4386A>T (p.Arg1462Ser)
c.3532A>T
c.6597A>T (p.Arg2199Ser)
c.6552A>T (p.Arg2184Ser)
c.447-58184A>T
c.3926A>T
n.458A>T
c.6624A>T (p.Arg2208Ser)
n.1672A>T
n.186A>T
n.4109A>T
c.6582A>T (p.Arg2194Ser)
c.6555A>T (p.Arg2185Ser)
c.6507A>T (p.Arg2169Ser)
c.6558A>T (p.Arg2186Ser)
c.6627A>T (p.Arg2209Ser)
c.6594A>T (p.Arg2198Ser)
c.6591A>T (p.Arg2197Ser)
c.6516A>T (p.Arg2172Ser)
3g.4787956T>ACA351640440ITPR1c.6636T>A (n.6636T>A)
c.6601T>A (p.Leu2201Ile)
c.6580T>A (p.Leu2194Ile)
c.6481T>A (p.Leu2161Ile)
c.6436T>A (p.Leu2146Ile)
n.517T>A
c.997-18147T>A (n.997-18147T>A)
c.2524T>A
n.4129T>A
c.2960T>A
c.4387T>A (p.Leu1463Ile)
c.3533T>A
c.6598T>A (p.Leu2200Ile)
c.6553T>A (p.Leu2185Ile)
c.447-58183T>A
c.3927T>A
n.459T>A
c.6625T>A (p.Leu2209Ile)
n.1673T>A
n.187T>A
n.4110T>A
c.6583T>A (p.Leu2195Ile)
c.6556T>A (p.Leu2186Ile)
c.6508T>A (p.Leu2170Ile)
c.6559T>A (p.Leu2187Ile)
c.6628T>A (p.Leu2210Ile)
c.6595T>A (p.Leu2199Ile)
c.6592T>A (p.Leu2198Ile)
c.6517T>A (p.Leu2173Ile)
3g.4787956T>CCA432322332ITPR1c.6636T>C (n.6636T>C)
c.6601T>C (p.Leu2201=)
c.6580T>C (p.Leu2194=)
c.6481T>C (p.Leu2161=)
c.6436T>C (p.Leu2146=)
n.517T>C
c.997-18147T>C (n.997-18147T>C)
c.2524T>C
n.4129T>C
c.2960T>C
c.4387T>C (p.Leu1463=)
c.3533T>C
c.6598T>C (p.Leu2200=)
c.6553T>C (p.Leu2185=)
c.447-58183T>C
c.3927T>C
n.459T>C
c.6625T>C (p.Leu2209=)
n.1673T>C
n.187T>C
n.4110T>C
c.6583T>C (p.Leu2195=)
c.6556T>C (p.Leu2186=)
c.6508T>C (p.Leu2170=)
c.6559T>C (p.Leu2187=)
c.6628T>C (p.Leu2210=)
c.6595T>C (p.Leu2199=)
c.6592T>C (p.Leu2198=)
c.6517T>C (p.Leu2173=)
3g.4787956T>GCA351640441ITPR1c.6636T>G (n.6636T>G)
c.6601T>G (p.Leu2201Val)
c.6580T>G (p.Leu2194Val)
c.6481T>G (p.Leu2161Val)
c.6436T>G (p.Leu2146Val)
n.517T>G
c.997-18147T>G (n.997-18147T>G)
c.2524T>G
n.4129T>G
c.2960T>G
c.4387T>G (p.Leu1463Val)
c.3533T>G
c.6598T>G (p.Leu2200Val)
c.6553T>G (p.Leu2185Val)
c.447-58183T>G
c.3927T>G
n.459T>G
c.6625T>G (p.Leu2209Val)
n.1673T>G
n.187T>G
n.4110T>G
c.6583T>G (p.Leu2195Val)
c.6556T>G (p.Leu2186Val)
c.6508T>G (p.Leu2170Val)
c.6559T>G (p.Leu2187Val)
c.6628T>G (p.Leu2210Val)
c.6595T>G (p.Leu2199Val)
c.6592T>G (p.Leu2198Val)
c.6517T>G (p.Leu2173Val)
3g.4787957T>ACA351640442ITPR1c.6637T>A (n.6637T>A)
c.6602T>A (p.Leu2201Ter)
c.6581T>A (p.Leu2194Ter)
c.6482T>A (p.Leu2161Ter)
c.6437T>A (p.Leu2146Ter)
n.518T>A
c.997-18146T>A (n.997-18146T>A)
c.2525T>A
n.4130T>A
c.2961T>A
c.4388T>A (p.Leu1463Ter)
c.3534T>A
c.6599T>A (p.Leu2200Ter)
c.6554T>A (p.Leu2185Ter)
c.447-58182T>A
c.3928T>A
n.460T>A
c.6626T>A (p.Leu2209Ter)
n.1674T>A
n.188T>A
n.4111T>A
c.6584T>A (p.Leu2195Ter)
c.6557T>A (p.Leu2186Ter)
c.6509T>A (p.Leu2170Ter)
c.6560T>A (p.Leu2187Ter)
c.6629T>A (p.Leu2210Ter)
c.6596T>A (p.Leu2199Ter)
c.6593T>A (p.Leu2198Ter)
c.6518T>A (p.Leu2173Ter)
3g.4787957T>CCA351640443ITPR1c.6637T>C (n.6637T>C)
c.6602T>C (p.Leu2201Ser)
c.6581T>C (p.Leu2194Ser)
c.6482T>C (p.Leu2161Ser)
c.6437T>C (p.Leu2146Ser)
n.518T>C
c.997-18146T>C (n.997-18146T>C)
c.2525T>C
n.4130T>C
c.2961T>C
c.4388T>C (p.Leu1463Ser)
c.3534T>C
c.6599T>C (p.Leu2200Ser)
c.6554T>C (p.Leu2185Ser)
c.447-58182T>C
c.3928T>C
n.460T>C
c.6626T>C (p.Leu2209Ser)
n.1674T>C
n.188T>C
n.4111T>C
c.6584T>C (p.Leu2195Ser)
c.6557T>C (p.Leu2186Ser)
c.6509T>C (p.Leu2170Ser)
c.6560T>C (p.Leu2187Ser)
c.6629T>C (p.Leu2210Ser)
c.6596T>C (p.Leu2199Ser)
c.6593T>C (p.Leu2198Ser)
c.6518T>C (p.Leu2173Ser)
3g.4787957T>GCA351640444ITPR1c.6637T>G (n.6637T>G)
c.6602T>G (p.Leu2201Ter)
c.6581T>G (p.Leu2194Ter)
c.6482T>G (p.Leu2161Ter)
c.6437T>G (p.Leu2146Ter)
n.518T>G
c.997-18146T>G (n.997-18146T>G)
c.2525T>G
n.4130T>G
c.2961T>G
c.4388T>G (p.Leu1463Ter)
c.3534T>G
c.6599T>G (p.Leu2200Ter)
c.6554T>G (p.Leu2185Ter)
c.447-58182T>G
c.3928T>G
n.460T>G
c.6626T>G (p.Leu2209Ter)
n.1674T>G
n.188T>G
n.4111T>G
c.6584T>G (p.Leu2195Ter)
c.6557T>G (p.Leu2186Ter)
c.6509T>G (p.Leu2170Ter)
c.6560T>G (p.Leu2187Ter)
c.6629T>G (p.Leu2210Ter)
c.6596T>G (p.Leu2199Ter)
c.6593T>G (p.Leu2198Ter)
c.6518T>G (p.Leu2173Ter)
3g.4787958A>CCA351640445ITPR1c.6638A>C (n.6638A>C)
c.6603A>C (p.Leu2201Phe)
c.6582A>C (p.Leu2194Phe)
c.6483A>C (p.Leu2161Phe)
c.6438A>C (p.Leu2146Phe)
n.519A>C
c.997-18145A>C (n.997-18145A>C)
c.2526A>C
n.4131A>C
c.2962A>C
c.4389A>C (p.Leu1463Phe)
c.3535A>C
c.6600A>C (p.Leu2200Phe)
c.6555A>C (p.Leu2185Phe)
c.447-58181A>C
c.3929A>C
n.461A>C
c.6627A>C (p.Leu2209Phe)
n.1675A>C
n.189A>C
n.4112A>C
c.6585A>C (p.Leu2195Phe)
c.6558A>C (p.Leu2186Phe)
c.6510A>C (p.Leu2170Phe)
c.6561A>C (p.Leu2187Phe)
c.6630A>C (p.Leu2210Phe)
c.6597A>C (p.Leu2199Phe)
c.6594A>C (p.Leu2198Phe)
c.6519A>C (p.Leu2173Phe)
3g.4787958A>GCA432322347ITPR1c.6638A>G (n.6638A>G)
c.6603A>G (p.Leu2201=)
c.6582A>G (p.Leu2194=)
c.6483A>G (p.Leu2161=)
c.6438A>G (p.Leu2146=)
n.519A>G
c.997-18145A>G (n.997-18145A>G)
c.2526A>G
n.4131A>G
c.2962A>G
c.4389A>G (p.Leu1463=)
c.3535A>G
c.6600A>G (p.Leu2200=)
c.6555A>G (p.Leu2185=)
c.447-58181A>G
c.3929A>G
n.461A>G
c.6627A>G (p.Leu2209=)
n.1675A>G
n.189A>G
n.4112A>G
c.6585A>G (p.Leu2195=)
c.6558A>G (p.Leu2186=)
c.6510A>G (p.Leu2170=)
c.6561A>G (p.Leu2187=)
c.6630A>G (p.Leu2210=)
c.6597A>G (p.Leu2199=)
c.6594A>G (p.Leu2198=)
c.6519A>G (p.Leu2173=)
3g.4787958A>TCA351640446ITPR1c.6638A>T (n.6638A>T)
c.6603A>T (p.Leu2201Phe)
c.6582A>T (p.Leu2194Phe)
c.6483A>T (p.Leu2161Phe)
c.6438A>T (p.Leu2146Phe)
n.519A>T
c.997-18145A>T (n.997-18145A>T)
c.2526A>T
n.4131A>T
c.2962A>T
c.4389A>T (p.Leu1463Phe)
c.3535A>T
c.6600A>T (p.Leu2200Phe)
c.6555A>T (p.Leu2185Phe)
c.447-58181A>T
c.3929A>T
n.461A>T
c.6627A>T (p.Leu2209Phe)
n.1675A>T
n.189A>T
n.4112A>T
c.6585A>T (p.Leu2195Phe)
c.6558A>T (p.Leu2186Phe)
c.6510A>T (p.Leu2170Phe)
c.6561A>T (p.Leu2187Phe)
c.6630A>T (p.Leu2210Phe)
c.6597A>T (p.Leu2199Phe)
c.6594A>T (p.Leu2198Phe)
c.6519A>T (p.Leu2173Phe)
3g.4787959G>ACA351640447ITPR1c.6639G>A (n.6639G>A)
c.6604G>A (p.Asp2202Asn)
c.6583G>A (p.Asp2195Asn)
c.6484G>A (p.Asp2162Asn)
c.6439G>A (p.Asp2147Asn)
n.520G>A
c.997-18144G>A (n.997-18144G>A)
c.2527G>A
n.4132G>A
c.2963G>A
c.4390G>A (p.Asp1464Asn)
c.3536G>A
c.6601G>A (p.Asp2201Asn)
c.6556G>A (p.Asp2186Asn)
c.447-58180G>A
c.3930G>A
n.462G>A
c.6628G>A (p.Asp2210Asn)
n.1676G>A
n.190G>A
n.4113G>A
c.6586G>A (p.Asp2196Asn)
c.6559G>A (p.Asp2187Asn)
c.6511G>A (p.Asp2171Asn)
c.6562G>A (p.Asp2188Asn)
c.6631G>A (p.Asp2211Asn)
c.6598G>A (p.Asp2200Asn)
c.6595G>A (p.Asp2199Asn)
c.6520G>A (p.Asp2174Asn)
3g.4787959G>CCA2232645ITPR1c.6639G>C (n.6639G>C)
c.6604G>C (p.Asp2202His)
c.6583G>C (p.Asp2195His)
c.6484G>C (p.Asp2162His)
c.6439G>C (p.Asp2147His)
n.520G>C
c.997-18144G>C (n.997-18144G>C)
c.2527G>C
n.4132G>C
c.2963G>C
c.4390G>C (p.Asp1464His)
c.3536G>C
c.6601G>C (p.Asp2201His)
c.6556G>C (p.Asp2186His)
c.447-58180G>C
c.3930G>C
n.462G>C
c.6628G>C (p.Asp2210His)
n.1676G>C
n.190G>C
n.4113G>C
c.6586G>C (p.Asp2196His)
c.6559G>C (p.Asp2187His)
c.6511G>C (p.Asp2171His)
c.6562G>C (p.Asp2188His)
c.6631G>C (p.Asp2211His)
c.6598G>C (p.Asp2200His)
c.6595G>C (p.Asp2199His)
c.6520G>C (p.Asp2174His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4787959G=CA1342337411ITPR1c.6639G= (n.6639G=)
c.6604G= (p.Asp2202=)
c.6583G= (p.Asp2195=)
c.6484G= (p.Asp2162=)
c.6439G= (p.Asp2147=)
n.520G=
c.997-18144G= (n.997-18144G=)
c.2527G=
n.4132G=
c.2963G=
c.4390G= (p.Asp1464=)
c.3536G=
c.6601G= (p.Asp2201=)
c.6556G= (p.Asp2186=)
c.447-58180G=
c.3930G=
n.462G=
c.6628G= (p.Asp2210=)
n.1676G=
n.190G=
n.4113G=
c.6586G= (p.Asp2196=)
c.6559G= (p.Asp2187=)
c.6511G= (p.Asp2171=)
c.6562G= (p.Asp2188=)
c.6631G= (p.Asp2211=)
c.6598G= (p.Asp2200=)
c.6595G= (p.Asp2199=)
c.6520G= (p.Asp2174=)
3g.4787959G>TCA351640448ITPR1c.6639G>T (n.6639G>T)
c.6604G>T (p.Asp2202Tyr)
c.6583G>T (p.Asp2195Tyr)
c.6484G>T (p.Asp2162Tyr)
c.6439G>T (p.Asp2147Tyr)
n.520G>T
c.997-18144G>T (n.997-18144G>T)
c.2527G>T
n.4132G>T
c.2963G>T
c.4390G>T (p.Asp1464Tyr)
c.3536G>T
c.6601G>T (p.Asp2201Tyr)
c.6556G>T (p.Asp2186Tyr)
c.447-58180G>T
c.3930G>T
n.462G>T
c.6628G>T (p.Asp2210Tyr)
n.1676G>T
n.190G>T
n.4113G>T
c.6586G>T (p.Asp2196Tyr)
c.6559G>T (p.Asp2187Tyr)
c.6511G>T (p.Asp2171Tyr)
c.6562G>T (p.Asp2188Tyr)
c.6631G>T (p.Asp2211Tyr)
c.6598G>T (p.Asp2200Tyr)
c.6595G>T (p.Asp2199Tyr)
c.6520G>T (p.Asp2174Tyr)
3g.4787960A>CCA351640449ITPR1c.6640A>C (n.6640A>C)
c.6605A>C (p.Asp2202Ala)
c.6584A>C (p.Asp2195Ala)
c.6485A>C (p.Asp2162Ala)
c.6440A>C (p.Asp2147Ala)
n.521A>C
c.997-18143A>C (n.997-18143A>C)
c.2528A>C
n.4133A>C
c.2964A>C
c.4391A>C (p.Asp1464Ala)
c.3537A>C
c.6602A>C (p.Asp2201Ala)
c.6557A>C (p.Asp2186Ala)
c.447-58179A>C
c.3931A>C
n.463A>C
c.6629A>C (p.Asp2210Ala)
n.1677A>C
n.191A>C
n.4114A>C
c.6587A>C (p.Asp2196Ala)
c.6560A>C (p.Asp2187Ala)
c.6512A>C (p.Asp2171Ala)
c.6563A>C (p.Asp2188Ala)
c.6632A>C (p.Asp2211Ala)
c.6599A>C (p.Asp2200Ala)
c.6596A>C (p.Asp2199Ala)
c.6521A>C (p.Asp2174Ala)
3g.4787960A>GCA351640450ITPR1c.6640A>G (n.6640A>G)
c.6605A>G (p.Asp2202Gly)
c.6584A>G (p.Asp2195Gly)
c.6485A>G (p.Asp2162Gly)
c.6440A>G (p.Asp2147Gly)
n.521A>G
c.997-18143A>G (n.997-18143A>G)
c.2528A>G
n.4133A>G
c.2964A>G
c.4391A>G (p.Asp1464Gly)
c.3537A>G
c.6602A>G (p.Asp2201Gly)
c.6557A>G (p.Asp2186Gly)
c.447-58179A>G
c.3931A>G
n.463A>G
c.6629A>G (p.Asp2210Gly)
n.1677A>G
n.191A>G
n.4114A>G
c.6587A>G (p.Asp2196Gly)
c.6560A>G (p.Asp2187Gly)
c.6512A>G (p.Asp2171Gly)
c.6563A>G (p.Asp2188Gly)
c.6632A>G (p.Asp2211Gly)
c.6599A>G (p.Asp2200Gly)
c.6596A>G (p.Asp2199Gly)
c.6521A>G (p.Asp2174Gly)
3g.4787960A>TCA351640451ITPR1c.6640A>T (n.6640A>T)
c.6605A>T (p.Asp2202Val)
c.6584A>T (p.Asp2195Val)
c.6485A>T (p.Asp2162Val)
c.6440A>T (p.Asp2147Val)
n.521A>T
c.997-18143A>T (n.997-18143A>T)
c.2528A>T
n.4133A>T
c.2964A>T
c.4391A>T (p.Asp1464Val)
c.3537A>T
c.6602A>T (p.Asp2201Val)
c.6557A>T (p.Asp2186Val)
c.447-58179A>T
c.3931A>T
n.463A>T
c.6629A>T (p.Asp2210Val)
n.1677A>T
n.191A>T
n.4114A>T
c.6587A>T (p.Asp2196Val)
c.6560A>T (p.Asp2187Val)
c.6512A>T (p.Asp2171Val)
c.6563A>T (p.Asp2188Val)
c.6632A>T (p.Asp2211Val)
c.6599A>T (p.Asp2200Val)
c.6596A>T (p.Asp2199Val)
c.6521A>T (p.Asp2174Val)
3g.4787961C>ACA351640452ITPR1c.6641C>A (n.6641C>A)
c.6606C>A (p.Asp2202Glu)
c.6585C>A (p.Asp2195Glu)
c.6486C>A (p.Asp2162Glu)
c.6441C>A (p.Asp2147Glu)
n.522C>A
c.997-18142C>A (n.997-18142C>A)
c.2529C>A
n.4134C>A
c.2965C>A
c.4392C>A (p.Asp1464Glu)
c.3538C>A
c.6603C>A (p.Asp2201Glu)
c.6558C>A (p.Asp2186Glu)
c.447-58178C>A
c.3932C>A
n.464C>A
c.6630C>A (p.Asp2210Glu)
n.1678C>A
n.192C>A
n.4115C>A
c.6588C>A (p.Asp2196Glu)
c.6561C>A (p.Asp2187Glu)
c.6513C>A (p.Asp2171Glu)
c.6564C>A (p.Asp2188Glu)
c.6633C>A (p.Asp2211Glu)
c.6600C>A (p.Asp2200Glu)
c.6597C>A (p.Asp2199Glu)
c.6522C>A (p.Asp2174Glu)
3g.4787961C>GCA351640453ITPR1c.6641C>G (n.6641C>G)
c.6606C>G (p.Asp2202Glu)
c.6585C>G (p.Asp2195Glu)
c.6486C>G (p.Asp2162Glu)
c.6441C>G (p.Asp2147Glu)
n.522C>G
c.997-18142C>G (n.997-18142C>G)
c.2529C>G
n.4134C>G
c.2965C>G
c.4392C>G (p.Asp1464Glu)
c.3538C>G
c.6603C>G (p.Asp2201Glu)
c.6558C>G (p.Asp2186Glu)
c.447-58178C>G
c.3932C>G
n.464C>G
c.6630C>G (p.Asp2210Glu)
n.1678C>G
n.192C>G
n.4115C>G
c.6588C>G (p.Asp2196Glu)
c.6561C>G (p.Asp2187Glu)
c.6513C>G (p.Asp2171Glu)
c.6564C>G (p.Asp2188Glu)
c.6633C>G (p.Asp2211Glu)
c.6600C>G (p.Asp2200Glu)
c.6597C>G (p.Asp2199Glu)
c.6522C>G (p.Asp2174Glu)
3g.4787961C>TCA432322374ITPR1c.6641C>T (n.6641C>T)
c.6606C>T (p.Asp2202=)
c.6585C>T (p.Asp2195=)
c.6486C>T (p.Asp2162=)
c.6441C>T (p.Asp2147=)
n.522C>T
c.997-18142C>T (n.997-18142C>T)
c.2529C>T
n.4134C>T
c.2965C>T
c.4392C>T (p.Asp1464=)
c.3538C>T
c.6603C>T (p.Asp2201=)
c.6558C>T (p.Asp2186=)
c.447-58178C>T
c.3932C>T
n.464C>T
c.6630C>T (p.Asp2210=)
n.1678C>T
n.192C>T
n.4115C>T
c.6588C>T (p.Asp2196=)
c.6561C>T (p.Asp2187=)
c.6513C>T (p.Asp2171=)
c.6564C>T (p.Asp2188=)
c.6633C>T (p.Asp2211=)
c.6600C>T (p.Asp2200=)
c.6597C>T (p.Asp2199=)
c.6522C>T (p.Asp2174=)
3g.4787962C>ACA432322375ITPR1c.6642C>A (n.6642C>A)
c.6607C>A (p.Arg2203=)
c.6586C>A (p.Arg2196=)
c.6487C>A (p.Arg2163=)
c.6442C>A (p.Arg2148=)
n.523C>A
c.997-18141C>A (n.997-18141C>A)
c.2530C>A
n.4135C>A
c.2966C>A
c.4393C>A (p.Arg1465=)
c.3539C>A
c.6604C>A (p.Arg2202=)
c.6559C>A (p.Arg2187=)
c.447-58177C>A
c.3933C>A
n.465C>A
c.6631C>A (p.Arg2211=)
n.1679C>A
n.193C>A
n.4116C>A
c.6589C>A (p.Arg2197=)
c.6562C>A (p.Arg2188=)
c.6514C>A (p.Arg2172=)
c.6565C>A (p.Arg2189=)
c.6634C>A (p.Arg2212=)
c.6601C>A (p.Arg2201=)
c.6598C>A (p.Arg2200=)
c.6523C>A (p.Arg2175=)
 gnomAD v4
3g.4787962C=CA1342337412ITPR1c.6642C= (n.6642C=)
c.6607C= (p.Arg2203=)
c.6586C= (p.Arg2196=)
c.6487C= (p.Arg2163=)
c.6442C= (p.Arg2148=)
n.523C=
c.997-18141C= (n.997-18141C=)
c.2530C=
n.4135C=
c.2966C=
c.4393C= (p.Arg1465=)
c.3539C=
c.6604C= (p.Arg2202=)
c.6559C= (p.Arg2187=)
c.447-58177C=
c.3933C=
n.465C=
c.6631C= (p.Arg2211=)
n.1679C=
n.193C=
n.4116C=
c.6589C= (p.Arg2197=)
c.6562C= (p.Arg2188=)
c.6514C= (p.Arg2172=)
c.6565C= (p.Arg2189=)
c.6634C= (p.Arg2212=)
c.6601C= (p.Arg2201=)
c.6598C= (p.Arg2200=)
c.6523C= (p.Arg2175=)
3g.4787962C>GCA351640454ITPR1c.6642C>G (n.6642C>G)
c.6607C>G (p.Arg2203Gly)
c.6586C>G (p.Arg2196Gly)
c.6487C>G (p.Arg2163Gly)
c.6442C>G (p.Arg2148Gly)
n.523C>G
c.997-18141C>G (n.997-18141C>G)
c.2530C>G
n.4135C>G
c.2966C>G
c.4393C>G (p.Arg1465Gly)
c.3539C>G
c.6604C>G (p.Arg2202Gly)
c.6559C>G (p.Arg2187Gly)
c.447-58177C>G
c.3933C>G
n.465C>G
c.6631C>G (p.Arg2211Gly)
n.1679C>G
n.193C>G
n.4116C>G
c.6589C>G (p.Arg2197Gly)
c.6562C>G (p.Arg2188Gly)
c.6514C>G (p.Arg2172Gly)
c.6565C>G (p.Arg2189Gly)
c.6634C>G (p.Arg2212Gly)
c.6601C>G (p.Arg2201Gly)
c.6598C>G (p.Arg2200Gly)
c.6523C>G (p.Arg2175Gly)
3g.4787962C>TCA351640455ITPR1c.6642C>T (n.6642C>T)
c.6607C>T (p.Arg2203Ter)
c.6586C>T (p.Arg2196Ter)
c.6487C>T (p.Arg2163Ter)
c.6442C>T (p.Arg2148Ter)
n.523C>T
c.997-18141C>T (n.997-18141C>T)
c.2530C>T
n.4135C>T
c.2966C>T
c.4393C>T (p.Arg1465Ter)
c.3539C>T
c.6604C>T (p.Arg2202Ter)
c.6559C>T (p.Arg2187Ter)
c.447-58177C>T
c.3933C>T
n.465C>T
c.6631C>T (p.Arg2211Ter)
n.1679C>T
n.193C>T
n.4116C>T
c.6589C>T (p.Arg2197Ter)
c.6562C>T (p.Arg2188Ter)
c.6514C>T (p.Arg2172Ter)
c.6565C>T (p.Arg2189Ter)
c.6634C>T (p.Arg2212Ter)
c.6601C>T (p.Arg2201Ter)
c.6598C>T (p.Arg2200Ter)
c.6523C>T (p.Arg2175Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.4787963G>ACA2232646ITPR1c.6643G>A (n.6643G>A)
c.6608G>A (p.Arg2203Gln)
c.6587G>A (p.Arg2196Gln)
c.6488G>A (p.Arg2163Gln)
c.6443G>A (p.Arg2148Gln)
n.524G>A
c.997-18140G>A (n.997-18140G>A)
c.2531G>A
n.4136G>A
c.2967G>A
c.4394G>A (p.Arg1465Gln)
c.3540G>A
c.6605G>A (p.Arg2202Gln)
c.6560G>A (p.Arg2187Gln)
c.447-58176G>A
c.3934G>A
n.466G>A
c.6632G>A (p.Arg2211Gln)
n.1680G>A
n.194G>A
n.4117G>A
c.6590G>A (p.Arg2197Gln)
c.6563G>A (p.Arg2188Gln)
c.6515G>A (p.Arg2172Gln)
c.6566G>A (p.Arg2189Gln)
c.6635G>A (p.Arg2212Gln)
c.6602G>A (p.Arg2201Gln)
c.6599G>A (p.Arg2200Gln)
c.6524G>A (p.Arg2175Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.4787963G>CCA351640456ITPR1c.6643G>C (n.6643G>C)
c.6608G>C (p.Arg2203Pro)
c.6587G>C (p.Arg2196Pro)
c.6488G>C (p.Arg2163Pro)
c.6443G>C (p.Arg2148Pro)
n.524G>C
c.997-18140G>C (n.997-18140G>C)
c.2531G>C
n.4136G>C
c.2967G>C
c.4394G>C (p.Arg1465Pro)
c.3540G>C
c.6605G>C (p.Arg2202Pro)
c.6560G>C (p.Arg2187Pro)
c.447-58176G>C
c.3934G>C
n.466G>C
c.6632G>C (p.Arg2211Pro)
n.1680G>C
n.194G>C
n.4117G>C
c.6590G>C (p.Arg2197Pro)
c.6563G>C (p.Arg2188Pro)
c.6515G>C (p.Arg2172Pro)
c.6566G>C (p.Arg2189Pro)
c.6635G>C (p.Arg2212Pro)
c.6602G>C (p.Arg2201Pro)
c.6599G>C (p.Arg2200Pro)
c.6524G>C (p.Arg2175Pro)
3g.4787963G=CA1342337413ITPR1c.6643G= (n.6643G=)
c.6608G= (p.Arg2203=)
c.6587G= (p.Arg2196=)
c.6488G= (p.Arg2163=)
c.6443G= (p.Arg2148=)
n.524G=
c.997-18140G= (n.997-18140G=)
c.2531G=
n.4136G=
c.2967G=
c.4394G= (p.Arg1465=)
c.3540G=
c.6605G= (p.Arg2202=)
c.6560G= (p.Arg2187=)
c.447-58176G=
c.3934G=
n.466G=
c.6632G= (p.Arg2211=)
n.1680G=
n.194G=
n.4117G=
c.6590G= (p.Arg2197=)
c.6563G= (p.Arg2188=)
c.6515G= (p.Arg2172=)
c.6566G= (p.Arg2189=)
c.6635G= (p.Arg2212=)
c.6602G= (p.Arg2201=)
c.6599G= (p.Arg2200=)
c.6524G= (p.Arg2175=)
3g.4787963G>TCA351640457ITPR1c.6643G>T (n.6643G>T)
c.6608G>T (p.Arg2203Leu)
c.6587G>T (p.Arg2196Leu)
c.6488G>T (p.Arg2163Leu)
c.6443G>T (p.Arg2148Leu)
n.524G>T
c.997-18140G>T (n.997-18140G>T)
c.2531G>T
n.4136G>T
c.2967G>T
c.4394G>T (p.Arg1465Leu)
c.3540G>T
c.6605G>T (p.Arg2202Leu)
c.6560G>T (p.Arg2187Leu)
c.447-58176G>T
c.3934G>T
n.466G>T
c.6632G>T (p.Arg2211Leu)
n.1680G>T
n.194G>T
n.4117G>T
c.6590G>T (p.Arg2197Leu)
c.6563G>T (p.Arg2188Leu)
c.6515G>T (p.Arg2172Leu)
c.6566G>T (p.Arg2189Leu)
c.6635G>T (p.Arg2212Leu)
c.6602G>T (p.Arg2201Leu)
c.6599G>T (p.Arg2200Leu)
c.6524G>T (p.Arg2175Leu)
 gnomAD v4
3g.4787964A=CA1342337414ITPR1c.6644A= (n.6644A=)
c.6609A= (p.Arg2203=)
c.6588A= (p.Arg2196=)
c.6489A= (p.Arg2163=)
c.6444A= (p.Arg2148=)
n.525A=
c.997-18139A= (n.997-18139A=)
c.2532A=
n.4137A=
c.2968A=
c.4395A= (p.Arg1465=)
c.3541A=
c.6606A= (p.Arg2202=)
c.6561A= (p.Arg2187=)
c.447-58175A=
c.3935A=
n.467A=
c.6633A= (p.Arg2211=)
n.1681A=
n.195A=
n.4118A=
c.6591A= (p.Arg2197=)
c.6564A= (p.Arg2188=)
c.6516A= (p.Arg2172=)
c.6567A= (p.Arg2189=)
c.6636A= (p.Arg2212=)
c.6603A= (p.Arg2201=)
c.6600A= (p.Arg2200=)
c.6525A= (p.Arg2175=)

Number of alleles fetched