Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.4787948T>A | CA351640423 | ITPR1 | c.6628T>A (n.6628T>A) c.6593T>A (p.Ile2198Asn) c.6572T>A (p.Ile2191Asn) c.6473T>A (p.Ile2158Asn) c.6428T>A (p.Ile2143Asn) n.509T>A c.997-18155T>A (n.997-18155T>A) c.2516T>A n.4121T>A c.2952T>A c.4379T>A (p.Ile1460Asn) c.3525T>A c.6590T>A (p.Ile2197Asn) c.6545T>A (p.Ile2182Asn) c.447-58191T>A c.3919T>A n.451T>A c.6617T>A (p.Ile2206Asn) n.1665T>A n.179T>A n.4102T>A c.6575T>A (p.Ile2192Asn) c.6548T>A (p.Ile2183Asn) c.6500T>A (p.Ile2167Asn) c.6551T>A (p.Ile2184Asn) c.6620T>A (p.Ile2207Asn) c.6587T>A (p.Ile2196Asn) c.6584T>A (p.Ile2195Asn) c.6509T>A (p.Ile2170Asn) | |
3 | g.4787948T>C | CA351640424 | ITPR1 | c.6628T>C (n.6628T>C) c.6593T>C (p.Ile2198Thr) c.6572T>C (p.Ile2191Thr) c.6473T>C (p.Ile2158Thr) c.6428T>C (p.Ile2143Thr) n.509T>C c.997-18155T>C (n.997-18155T>C) c.2516T>C n.4121T>C c.2952T>C c.4379T>C (p.Ile1460Thr) c.3525T>C c.6590T>C (p.Ile2197Thr) c.6545T>C (p.Ile2182Thr) c.447-58191T>C c.3919T>C n.451T>C c.6617T>C (p.Ile2206Thr) n.1665T>C n.179T>C n.4102T>C c.6575T>C (p.Ile2192Thr) c.6548T>C (p.Ile2183Thr) c.6500T>C (p.Ile2167Thr) c.6551T>C (p.Ile2184Thr) c.6620T>C (p.Ile2207Thr) c.6587T>C (p.Ile2196Thr) c.6584T>C (p.Ile2195Thr) c.6509T>C (p.Ile2170Thr) | |
3 | g.4787948T>G | CA351640425 | ITPR1 | c.6628T>G (n.6628T>G) c.6593T>G (p.Ile2198Ser) c.6572T>G (p.Ile2191Ser) c.6473T>G (p.Ile2158Ser) c.6428T>G (p.Ile2143Ser) n.509T>G c.997-18155T>G (n.997-18155T>G) c.2516T>G n.4121T>G c.2952T>G c.4379T>G (p.Ile1460Ser) c.3525T>G c.6590T>G (p.Ile2197Ser) c.6545T>G (p.Ile2182Ser) c.447-58191T>G c.3919T>G n.451T>G c.6617T>G (p.Ile2206Ser) n.1665T>G n.179T>G n.4102T>G c.6575T>G (p.Ile2192Ser) c.6548T>G (p.Ile2183Ser) c.6500T>G (p.Ile2167Ser) c.6551T>G (p.Ile2184Ser) c.6620T>G (p.Ile2207Ser) c.6587T>G (p.Ile2196Ser) c.6584T>G (p.Ile2195Ser) c.6509T>G (p.Ile2170Ser) | |
3 | g.4787949T>A | CA432322277 | ITPR1 | c.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=) | |
3 | g.4787949T>C | CA432322279 | ITPR1 | c.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=) | |
3 | g.4787949T>G | CA351640426 | ITPR1 | c.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) | |
3 | g.4787950G>A | CA351640427 | ITPR1 | c.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) | |
3 | g.4787950G>C | CA351640429 | ITPR1 | c.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) | |
3 | g.4787950G>T | CA351640428 | ITPR1 | c.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) | |
3 | g.4787951T>A | CA351640430 | ITPR1 | c.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) | |
3 | g.4787951T>C | CA351640432 | ITPR1 | c.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) | |
3 | g.4787951T>G | CA351640431 | ITPR1 | c.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) | |
3 | g.4787952C>A | CA432322297 | ITPR1 | c.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=) | |
3 | g.4787952C>G | CA432322299 | ITPR1 | c.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=) | |
3 | g.4787952C>T | CA432322303 | ITPR1 | c.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=) | |
3 | g.4787953A= | CA1342337410 | ITPR1 | c.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=) | |
3 | g.4787953A>C | CA432322307 | ITPR1 | c.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 |
3 | g.4787953A>G | CA351640433 | ITPR1 | c.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) | |
3 | g.4787953A>T | CA351640434 | ITPR1 | c.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) | |
3 | g.4787954G>A | CA351640435 | ITPR1 | c.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) | |
3 | g.4787954G>C | CA351640436 | ITPR1 | c.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) | |
3 | g.4787954G>T | CA351640437 | ITPR1 | c.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) | |
3 | g.4787955A>C | CA351640438 | ITPR1 | c.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) | |
3 | g.4787955A>G | CA432322323 | ITPR1 | c.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=) | |
3 | g.4787955A>T | CA351640439 | ITPR1 | c.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) | |
3 | g.4787956T>A | CA351640440 | ITPR1 | c.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) | |
3 | g.4787956T>C | CA432322332 | ITPR1 | c.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=) | |
3 | g.4787956T>G | CA351640441 | ITPR1 | c.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) | |
3 | g.4787957T>A | CA351640442 | ITPR1 | c.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) | |
3 | g.4787957T>C | CA351640443 | ITPR1 | c.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) | |
3 | g.4787957T>G | CA351640444 | ITPR1 | c.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) | |
3 | g.4787958A>C | CA351640445 | ITPR1 | c.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) | |
3 | g.4787958A>G | CA432322347 | ITPR1 | c.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=) | |
3 | g.4787958A>T | CA351640446 | ITPR1 | c.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) | |
3 | g.4787959G>A | CA351640447 | ITPR1 | c.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) | |
3 | g.4787959G>C | CA2232645 | ITPR1 | c.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 |
3 | g.4787959G= | CA1342337411 | ITPR1 | c.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=) | |
3 | g.4787959G>T | CA351640448 | ITPR1 | c.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) | |
3 | g.4787960A>C | CA351640449 | ITPR1 | c.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) | |
3 | g.4787960A>G | CA351640450 | ITPR1 | c.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) | |
3 | g.4787960A>T | CA351640451 | ITPR1 | c.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) | |
3 | g.4787961C>A | CA351640452 | ITPR1 | c.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) | |
3 | g.4787961C>G | CA351640453 | ITPR1 | c.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) | |
3 | g.4787961C>T | CA432322374 | ITPR1 | c.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=) | |
3 | g.4787962C>A | CA432322375 | ITPR1 | c.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 |
3 | g.4787962C= | CA1342337412 | ITPR1 | c.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=) | |
3 | g.4787962C>G | CA351640454 | ITPR1 | c.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) | |
3 | g.4787962C>T | CA351640455 | ITPR1 | c.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 |
3 | g.4787963G>A | CA2232646 | ITPR1 | c.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 |
3 | g.4787963G>C | CA351640456 | ITPR1 | c.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) |