Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122282083C>ACA2569707CASRc.1378-30C>A (n.1378-30C>A)
c.1609C>A (p.Pro537Thr)
c.1609-30C>A (n.1609-30C>A)
c.1126-30C>A (n.1126-30C>A)
c.1021-30C>A (n.1021-30C>A)
 dbSNP ExAC gnomAD v2
3g.122282083C=CA1397885772CASRc.1378-30C= (n.1378-30C=)
c.1609C= (p.Pro537=)
c.1609-30C= (n.1609-30C=)
c.1126-30C= (n.1126-30C=)
c.1021-30C= (n.1021-30C=)
3g.122282083C>GCA354156030CASRc.1378-30C>G (n.1378-30C>G)
c.1609C>G (p.Pro537Ala)
c.1609-30C>G (n.1609-30C>G)
c.1126-30C>G (n.1126-30C>G)
c.1021-30C>G (n.1021-30C>G)
 dbSNP gnomAD v3 gnomAD v4
3g.122282083C>TCA354156032CASRc.1378-30C>T (n.1378-30C>T)
c.1609C>T (p.Pro537Ser)
c.1609-30C>T (n.1609-30C>T)
c.1126-30C>T (n.1126-30C>T)
c.1021-30C>T (n.1021-30C>T)
 dbSNP
3g.122282084C>ACA354156034CASRc.1378-29C>A (n.1378-29C>A)
c.1610C>A (p.Pro537Gln)
c.1609-29C>A (n.1609-29C>A)
c.1126-29C>A (n.1126-29C>A)
c.1021-29C>A (n.1021-29C>A)
3g.122282084C=CA1397885773CASRc.1378-29C= (n.1378-29C=)
c.1610C= (p.Pro537=)
c.1609-29C= (n.1609-29C=)
c.1126-29C= (n.1126-29C=)
c.1021-29C= (n.1021-29C=)
3g.122282084C>GCA354156035CASRc.1378-29C>G (n.1378-29C>G)
c.1610C>G (p.Pro537Arg)
c.1609-29C>G (n.1609-29C>G)
c.1126-29C>G (n.1126-29C>G)
c.1021-29C>G (n.1021-29C>G)
3g.122282084C>TCA354156037CASRc.1378-29C>T (n.1378-29C>T)
c.1610C>T (p.Pro537Leu)
c.1609-29C>T (n.1609-29C>T)
c.1126-29C>T (n.1126-29C>T)
c.1021-29C>T (n.1021-29C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.122282085_122282090delCA2667223081CASRc.1378-28_1378-23del (n.1378-28_1378-23del)
c.1611_1616del (p.Leu538_Thr539del)
c.1609-28_1609-23del (n.1609-28_1609-23del)
c.1126-28_1126-23del (n.1126-28_1126-23del)
c.1021-28_1021-23del (n.1021-28_1021-23del)
 gnomAD v4
3g.122282085A>CCA435251434CASRc.1378-28A>C (n.1378-28A>C)
c.1611A>C (p.Pro537=)
c.1609-28A>C (n.1609-28A>C)
c.1126-28A>C (n.1126-28A>C)
c.1021-28A>C (n.1021-28A>C)
3g.122282085A>GCA435251435CASRc.1378-28A>G (n.1378-28A>G)
c.1611A>G (p.Pro537=)
c.1609-28A>G (n.1609-28A>G)
c.1126-28A>G (n.1126-28A>G)
c.1021-28A>G (n.1021-28A>G)
3g.122282085A>TCA435251436CASRc.1378-28A>T (n.1378-28A>T)
c.1611A>T (p.Pro537=)
c.1609-28A>T (n.1609-28A>T)
c.1126-28A>T (n.1126-28A>T)
c.1021-28A>T (n.1021-28A>T)
3g.122282086C>ACA354156039CASRc.1378-27C>A (n.1378-27C>A)
c.1612C>A (p.Leu538Ile)
c.1609-27C>A (n.1609-27C>A)
c.1126-27C>A (n.1126-27C>A)
c.1021-27C>A (n.1021-27C>A)
3g.122282086C=CA1397885774CASRc.1378-27C= (n.1378-27C=)
c.1612C= (p.Leu538=)
c.1609-27C= (n.1609-27C=)
c.1126-27C= (n.1126-27C=)
c.1021-27C= (n.1021-27C=)
3g.122282086C>GCA354156041CASRc.1378-27C>G (n.1378-27C>G)
c.1612C>G (p.Leu538Val)
c.1609-27C>G (n.1609-27C>G)
c.1126-27C>G (n.1126-27C>G)
c.1021-27C>G (n.1021-27C>G)
3g.122282086C>TCA2569708CASRc.1378-27C>T (n.1378-27C>T)
c.1612C>T (p.Leu538Phe)
c.1609-27C>T (n.1609-27C>T)
c.1126-27C>T (n.1126-27C>T)
c.1021-27C>T (n.1021-27C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122282087T>ACA354156043CASRc.1378-26T>A (n.1378-26T>A)
c.1613T>A (p.Leu538His)
c.1609-26T>A (n.1609-26T>A)
c.1126-26T>A (n.1126-26T>A)
c.1021-26T>A (n.1021-26T>A)
3g.122282087T>CCA354156045CASRc.1378-26T>C (n.1378-26T>C)
c.1613T>C (p.Leu538Pro)
c.1609-26T>C (n.1609-26T>C)
c.1126-26T>C (n.1126-26T>C)
c.1021-26T>C (n.1021-26T>C)
3g.122282087T>GCA354156047CASRc.1378-26T>G (n.1378-26T>G)
c.1613T>G (p.Leu538Arg)
c.1609-26T>G (n.1609-26T>G)
c.1126-26T>G (n.1126-26T>G)
c.1021-26T>G (n.1021-26T>G)
3g.122282088C>ACA435251437CASRc.1378-25C>A (n.1378-25C>A)
c.1614C>A (p.Leu538=)
c.1609-25C>A (n.1609-25C>A)
c.1126-25C>A (n.1126-25C>A)
c.1021-25C>A (n.1021-25C>A)
3g.122282088C>GCA435251438CASRc.1378-25C>G (n.1378-25C>G)
c.1614C>G (p.Leu538=)
c.1609-25C>G (n.1609-25C>G)
c.1126-25C>G (n.1126-25C>G)
c.1021-25C>G (n.1021-25C>G)
3g.122282088C>TCA435251439CASRc.1378-25C>T (n.1378-25C>T)
c.1614C>T (p.Leu538=)
c.1609-25C>T (n.1609-25C>T)
c.1126-25C>T (n.1126-25C>T)
c.1021-25C>T (n.1021-25C>T)
3g.122282089A>CCA354156051CASRc.1378-24A>C (n.1378-24A>C)
c.1615A>C (p.Thr539Pro)
c.1609-24A>C (n.1609-24A>C)
c.1126-24A>C (n.1126-24A>C)
c.1021-24A>C (n.1021-24A>C)
3g.122282089A>GCA354156052CASRc.1378-24A>G (n.1378-24A>G)
c.1615A>G (p.Thr539Ala)
c.1609-24A>G (n.1609-24A>G)
c.1126-24A>G (n.1126-24A>G)
c.1021-24A>G (n.1021-24A>G)
3g.122282089A>TCA354156049CASRc.1378-24A>T (n.1378-24A>T)
c.1615A>T (p.Thr539Ser)
c.1609-24A>T (n.1609-24A>T)
c.1126-24A>T (n.1126-24A>T)
c.1021-24A>T (n.1021-24A>T)
3g.122282090C>ACA354156054CASRc.1378-23C>A (n.1378-23C>A)
c.1616C>A (p.Thr539Asn)
c.1609-23C>A (n.1609-23C>A)
c.1126-23C>A (n.1126-23C>A)
c.1021-23C>A (n.1021-23C>A)
3g.122282090C=CA1397885775CASRc.1378-23C= (n.1378-23C=)
c.1616C= (p.Thr539=)
c.1609-23C= (n.1609-23C=)
c.1126-23C= (n.1126-23C=)
c.1021-23C= (n.1021-23C=)
3g.122282090C>GCA354156056CASRc.1378-23C>G (n.1378-23C>G)
c.1616C>G (p.Thr539Ser)
c.1609-23C>G (n.1609-23C>G)
c.1126-23C>G (n.1126-23C>G)
c.1021-23C>G (n.1021-23C>G)
3g.122282090C>TCA2569709CASRc.1378-23C>T (n.1378-23C>T)
c.1616C>T (p.Thr539Ile)
c.1609-23C>T (n.1609-23C>T)
c.1126-23C>T (n.1126-23C>T)
c.1021-23C>T (n.1021-23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122282091C>ACA435251440CASRc.1378-22C>A (n.1378-22C>A)
c.1617C>A (p.Thr539=)
c.1609-22C>A (n.1609-22C>A)
c.1126-22C>A (n.1126-22C>A)
c.1021-22C>A (n.1021-22C>A)
3g.122282091C>GCA435251441CASRc.1378-22C>G (n.1378-22C>G)
c.1617C>G (p.Thr539=)
c.1609-22C>G (n.1609-22C>G)
c.1126-22C>G (n.1126-22C>G)
c.1021-22C>G (n.1021-22C>G)
3g.122282091C>TCA435251442CASRc.1378-22C>T (n.1378-22C>T)
c.1617C>T (p.Thr539=)
c.1609-22C>T (n.1609-22C>T)
c.1126-22C>T (n.1126-22C>T)
c.1021-22C>T (n.1021-22C>T)
3g.122282092T>ACA354156058CASRc.1378-21T>A (n.1378-21T>A)
c.1618T>A (p.Phe540Ile)
c.1609-21T>A (n.1609-21T>A)
c.1126-21T>A (n.1126-21T>A)
c.1021-21T>A (n.1021-21T>A)
3g.122282092T>CCA2569710CASRc.1378-21T>C (n.1378-21T>C)
c.1618T>C (p.Phe540Leu)
c.1609-21T>C (n.1609-21T>C)
c.1126-21T>C (n.1126-21T>C)
c.1021-21T>C (n.1021-21T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122282092T>GCA354156061CASRc.1378-21T>G (n.1378-21T>G)
c.1618T>G (p.Phe540Val)
c.1609-21T>G (n.1609-21T>G)
c.1126-21T>G (n.1126-21T>G)
c.1021-21T>G (n.1021-21T>G)
3g.122282092T=CA1397885776CASRc.1378-21T= (n.1378-21T=)
c.1618T= (p.Phe540=)
c.1609-21T= (n.1609-21T=)
c.1126-21T= (n.1126-21T=)
c.1021-21T= (n.1021-21T=)
3g.122282093T>ACA354156067CASRc.1378-20T>A (n.1378-20T>A)
c.1619T>A (p.Phe540Tyr)
c.1609-20T>A (n.1609-20T>A)
c.1126-20T>A (n.1126-20T>A)
c.1021-20T>A (n.1021-20T>A)
3g.122282093T>CCA354156063CASRc.1378-20T>C (n.1378-20T>C)
c.1619T>C (p.Phe540Ser)
c.1609-20T>C (n.1609-20T>C)
c.1126-20T>C (n.1126-20T>C)
c.1021-20T>C (n.1021-20T>C)
 gnomAD v4
3g.122282093T>GCA354156064CASRc.1378-20T>G (n.1378-20T>G)
c.1619T>G (p.Phe540Cys)
c.1609-20T>G (n.1609-20T>G)
c.1126-20T>G (n.1126-20T>G)
c.1021-20T>G (n.1021-20T>G)
3g.122282094T>ACA354156069CASRc.1378-19T>A (n.1378-19T>A)
c.1620T>A (p.Phe540Leu)
c.1609-19T>A (n.1609-19T>A)
c.1126-19T>A (n.1126-19T>A)
c.1021-19T>A (n.1021-19T>A)
3g.122282094T>CCA435251443CASRc.1378-19T>C (n.1378-19T>C)
c.1620T>C (p.Phe540=)
c.1609-19T>C (n.1609-19T>C)
c.1126-19T>C (n.1126-19T>C)
c.1021-19T>C (n.1021-19T>C)
 gnomAD v4
3g.122282094T>GCA354156070CASRc.1378-19T>G (n.1378-19T>G)
c.1620T>G (p.Phe540Leu)
c.1609-19T>G (n.1609-19T>G)
c.1126-19T>G (n.1126-19T>G)
c.1021-19T>G (n.1021-19T>G)
3g.122282095G>ACA354156073CASRc.1378-18G>A (n.1378-18G>A)
c.1621G>A (p.Val541Met)
c.1609-18G>A (n.1609-18G>A)
c.1126-18G>A (n.1126-18G>A)
c.1021-18G>A (n.1021-18G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.122282095G>CCA354156075CASRc.1378-18G>C (n.1378-18G>C)
c.1621G>C (p.Val541Leu)
c.1609-18G>C (n.1609-18G>C)
c.1126-18G>C (n.1126-18G>C)
c.1021-18G>C (n.1021-18G>C)
3g.122282095G=CA1397885777CASRc.1378-18G= (n.1378-18G=)
c.1621G= (p.Val541=)
c.1609-18G= (n.1609-18G=)
c.1126-18G= (n.1126-18G=)
c.1021-18G= (n.1021-18G=)
3g.122282095G>TCA354156076CASRc.1378-18G>T (n.1378-18G>T)
c.1621G>T (p.Val541Leu)
c.1609-18G>T (n.1609-18G>T)
c.1126-18G>T (n.1126-18G>T)
c.1021-18G>T (n.1021-18G>T)
3g.122282096T>ACA354156077CASRc.1378-17T>A (n.1378-17T>A)
c.1622T>A (p.Val541Glu)
c.1609-17T>A (n.1609-17T>A)
c.1126-17T>A (n.1126-17T>A)
c.1021-17T>A (n.1021-17T>A)
3g.122282096T>CCA354156079CASRc.1378-17T>C (n.1378-17T>C)
c.1622T>C (p.Val541Ala)
c.1609-17T>C (n.1609-17T>C)
c.1126-17T>C (n.1126-17T>C)
c.1021-17T>C (n.1021-17T>C)
3g.122282096T>GCA354156078CASRc.1378-17T>G (n.1378-17T>G)
c.1622T>G (p.Val541Gly)
c.1609-17T>G (n.1609-17T>G)
c.1126-17T>G (n.1126-17T>G)
c.1021-17T>G (n.1021-17T>G)
 dbSNP
3g.122282096T=CA1397885778CASRc.1378-17T= (n.1378-17T=)
c.1622T= (p.Val541=)
c.1609-17T= (n.1609-17T=)
c.1126-17T= (n.1126-17T=)
c.1021-17T= (n.1021-17T=)
3g.122282097G>ACA435251446CASRc.1378-16G>A (n.1378-16G>A)
c.1623G>A (p.Val541=)
c.1609-16G>A (n.1609-16G>A)
c.1126-16G>A (n.1126-16G>A)
c.1021-16G>A (n.1021-16G>A)
3g.122282097G>CCA435251444CASRc.1378-16G>C (n.1378-16G>C)
c.1623G>C (p.Val541=)
c.1609-16G>C (n.1609-16G>C)
c.1126-16G>C (n.1126-16G>C)
c.1021-16G>C (n.1021-16G>C)
3g.122282097G>TCA435251445CASRc.1378-16G>T (n.1378-16G>T)
c.1623G>T (p.Val541=)
c.1609-16G>T (n.1609-16G>T)
c.1126-16G>T (n.1126-16G>T)
c.1021-16G>T (n.1021-16G>T)
3g.122282098C>ACA354156080CASRc.1378-15C>A (n.1378-15C>A)
c.1624C>A (p.Leu542Met)
c.1609-15C>A (n.1609-15C>A)
c.1126-15C>A (n.1126-15C>A)
c.1021-15C>A (n.1021-15C>A)
3g.122282098C>GCA354156081CASRc.1378-15C>G (n.1378-15C>G)
c.1624C>G (p.Leu542Val)
c.1609-15C>G (n.1609-15C>G)
c.1126-15C>G (n.1126-15C>G)
c.1021-15C>G (n.1021-15C>G)
3g.122282098C>TCA435251447CASRc.1378-15C>T (n.1378-15C>T)
c.1624C>T (p.Leu542=)
c.1609-15C>T (n.1609-15C>T)
c.1126-15C>T (n.1126-15C>T)
c.1021-15C>T (n.1021-15C>T)
3g.122282099T>ACA354156082CASRc.1378-14T>A (n.1378-14T>A)
c.1625T>A (p.Leu542Gln)
c.1609-14T>A (n.1609-14T>A)
c.1126-14T>A (n.1126-14T>A)
c.1021-14T>A (n.1021-14T>A)
3g.122282099T>CCA354156084CASRc.1378-14T>C (n.1378-14T>C)
c.1625T>C (p.Leu542Pro)
c.1609-14T>C (n.1609-14T>C)
c.1126-14T>C (n.1126-14T>C)
c.1021-14T>C (n.1021-14T>C)
3g.122282099T>GCA354156083CASRc.1378-14T>G (n.1378-14T>G)
c.1625T>G (p.Leu542Arg)
c.1609-14T>G (n.1609-14T>G)
c.1126-14T>G (n.1126-14T>G)
c.1021-14T>G (n.1021-14T>G)
3g.122282100G>ACA435251448CASRc.1378-13G>A (n.1378-13G>A)
c.1626G>A (p.Leu542=)
c.1609-13G>A (n.1609-13G>A)
c.1126-13G>A (n.1126-13G>A)
c.1021-13G>A (n.1021-13G>A)
 ClinVar dbSNP gnomAD v4
3g.122282100G>CCA435251450CASRc.1378-13G>C (n.1378-13G>C)
c.1626G>C (p.Leu542=)
c.1609-13G>C (n.1609-13G>C)
c.1126-13G>C (n.1126-13G>C)
c.1021-13G>C (n.1021-13G>C)
 dbSNP gnomAD v2 gnomAD v4
3g.122282100G=CA1397885779CASRc.1378-13G= (n.1378-13G=)
c.1626G= (p.Leu542=)
c.1609-13G= (n.1609-13G=)
c.1126-13G= (n.1126-13G=)
c.1021-13G= (n.1021-13G=)
3g.122282100G>TCA435251449CASRc.1378-13G>T (n.1378-13G>T)
c.1626G>T (p.Leu542=)
c.1609-13G>T (n.1609-13G>T)
c.1126-13G>T (n.1126-13G>T)
c.1021-13G>T (n.1021-13G>T)
3g.122282101T>ACA354156085CASRc.1378-12T>A (n.1378-12T>A)
c.1627T>A (p.Ser543Thr)
c.1609-12T>A (n.1609-12T>A)
c.1126-12T>A (n.1126-12T>A)
c.1021-12T>A (n.1021-12T>A)
 dbSNP gnomAD v2 gnomAD v4
3g.122282101T>CCA354156086CASRc.1378-12T>C (n.1378-12T>C)
c.1627T>C (p.Ser543Pro)
c.1609-12T>C (n.1609-12T>C)
c.1126-12T>C (n.1126-12T>C)
c.1021-12T>C (n.1021-12T>C)
3g.122282101T>GCA354156087CASRc.1378-12T>G (n.1378-12T>G)
c.1627T>G (p.Ser543Ala)
c.1609-12T>G (n.1609-12T>G)
c.1126-12T>G (n.1126-12T>G)
c.1021-12T>G (n.1021-12T>G)
3g.122282101T=CA1397885780CASRc.1378-12T= (n.1378-12T=)
c.1627T= (p.Ser543=)
c.1609-12T= (n.1609-12T=)
c.1126-12T= (n.1126-12T=)
c.1021-12T= (n.1021-12T=)
3g.122282102C>ACA354156088CASRc.1378-11C>A (n.1378-11C>A)
c.1628C>A (p.Ser543Tyr)
c.1609-11C>A (n.1609-11C>A)
c.1126-11C>A (n.1126-11C>A)
c.1021-11C>A (n.1021-11C>A)
3g.122282102C=CA1397885781CASRc.1378-11C= (n.1378-11C=)
c.1628C= (p.Ser543=)
c.1609-11C= (n.1609-11C=)
c.1126-11C= (n.1126-11C=)
c.1021-11C= (n.1021-11C=)
3g.122282102C>GCA354156089CASRc.1378-11C>G (n.1378-11C>G)
c.1628C>G (p.Ser543Cys)
c.1609-11C>G (n.1609-11C>G)
c.1126-11C>G (n.1126-11C>G)
c.1021-11C>G (n.1021-11C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122282102C>TCA2569711CASRc.1378-11C>T (n.1378-11C>T)
c.1628C>T (p.Ser543Phe)
c.1609-11C>T (n.1609-11C>T)
c.1126-11C>T (n.1126-11C>T)
c.1021-11C>T (n.1021-11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122282103T>ACA435251451CASRc.1378-10T>A (n.1378-10T>A)
c.1629T>A (p.Ser543=)
c.1609-10T>A (n.1609-10T>A)
c.1126-10T>A (n.1126-10T>A)
c.1021-10T>A (n.1021-10T>A)
3g.122282103T>CCA435251452CASRc.1378-10T>C (n.1378-10T>C)
c.1629T>C (p.Ser543=)
c.1609-10T>C (n.1609-10T>C)
c.1126-10T>C (n.1126-10T>C)
c.1021-10T>C (n.1021-10T>C)
3g.122282103T>GCA435251453CASRc.1378-10T>G (n.1378-10T>G)
c.1629T>G (p.Ser543=)
c.1609-10T>G (n.1609-10T>G)
c.1126-10T>G (n.1126-10T>G)
c.1021-10T>G (n.1021-10T>G)
 ClinVar dbSNP
3g.122282103T=CA1397885782CASRc.1378-10T= (n.1378-10T=)
c.1629T= (p.Ser543=)
c.1609-10T= (n.1609-10T=)
c.1126-10T= (n.1126-10T=)
c.1021-10T= (n.1021-10T=)
3g.122282104G>ACA354156090CASRc.1378-9G>A (n.1378-9G>A)
c.1630G>A (p.Val544Ile)
c.1609-9G>A (n.1609-9G>A)
c.1126-9G>A (n.1126-9G>A)
c.1021-9G>A (n.1021-9G>A)
 gnomAD v4
3g.122282104G>CCA354156091CASRc.1378-9G>C (n.1378-9G>C)
c.1630G>C (p.Val544Leu)
c.1609-9G>C (n.1609-9G>C)
c.1126-9G>C (n.1126-9G>C)
c.1021-9G>C (n.1021-9G>C)
3g.122282104G>TCA354156092CASRc.1378-9G>T (n.1378-9G>T)
c.1630G>T (p.Val544Phe)
c.1609-9G>T (n.1609-9G>T)
c.1126-9G>T (n.1126-9G>T)
c.1021-9G>T (n.1021-9G>T)
3g.122282105T>ACA354156093CASRc.1378-8T>A (n.1378-8T>A)
c.1631T>A (p.Val544Asp)
c.1609-8T>A (n.1609-8T>A)
c.1126-8T>A (n.1126-8T>A)
c.1021-8T>A (n.1021-8T>A)
3g.122282105T>CCA354156094CASRc.1378-8T>C (n.1378-8T>C)
c.1631T>C (p.Val544Ala)
c.1609-8T>C (n.1609-8T>C)
c.1126-8T>C (n.1126-8T>C)
c.1021-8T>C (n.1021-8T>C)
3g.122282105T>GCA354156095CASRc.1378-8T>G (n.1378-8T>G)
c.1631T>G (p.Val544Gly)
c.1609-8T>G (n.1609-8T>G)
c.1126-8T>G (n.1126-8T>G)
c.1021-8T>G (n.1021-8T>G)
3g.122282105_122282106delinsTCCA1397885783CASRc.1378-8_1378-7delinsTC (n.1378-8_1378-7delinsTC)
c.1631_1632delinsTC (p.Val544=)
c.1609-8_1609-7delinsTC (n.1609-8_1609-7delinsTC)
c.1126-8_1126-7delinsTC (n.1126-8_1126-7delinsTC)
c.1021-8_1021-7delinsTC (n.1021-8_1021-7delinsTC)
3g.122282106C>ACA435251454CASRc.1378-7C>A (n.1378-7C>A)
c.1632C>A (p.Val544=)
c.1609-7C>A (n.1609-7C>A)
c.1126-7C>A (n.1126-7C>A)
c.1021-7C>A (n.1021-7C>A)
3g.122282106C>GCA435251455CASRc.1378-7C>G (n.1378-7C>G)
c.1632C>G (p.Val544=)
c.1609-7C>G (n.1609-7C>G)
c.1126-7C>G (n.1126-7C>G)
c.1021-7C>G (n.1021-7C>G)
 gnomAD v4
3g.122282106C>TCA435251456CASRc.1378-7C>T (n.1378-7C>T)
c.1632C>T (p.Val544=)
c.1609-7C>T (n.1609-7C>T)
c.1126-7C>T (n.1126-7C>T)
c.1021-7C>T (n.1021-7C>T)
 ClinVar
3g.122282107delCA2569712CASRc.1378-6del (n.1378-6del)
c.1633del (p.Leu545SerfsTer?)
c.1609-6del (n.1609-6del)
c.1126-6del (n.1126-6del)
c.1021-6del (n.1021-6del)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122282107C>ACA354156096CASRc.1378-6C>A (n.1378-6C>A)
c.1633C>A (p.Leu545Ile)
c.1609-6C>A (n.1609-6C>A)
c.1126-6C>A (n.1126-6C>A)
c.1021-6C>A (n.1021-6C>A)
3g.122282107C=CA1397885784CASRc.1378-6C= (n.1378-6C=)
c.1633C= (p.Leu545=)
c.1609-6C= (n.1609-6C=)
c.1126-6C= (n.1126-6C=)
c.1021-6C= (n.1021-6C=)
3g.122282107C>GCA354156098CASRc.1378-6C>G (n.1378-6C>G)
c.1633C>G (p.Leu545Val)
c.1609-6C>G (n.1609-6C>G)
c.1126-6C>G (n.1126-6C>G)
c.1021-6C>G (n.1021-6C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122282107C>TCA354156097CASRc.1378-6C>T (n.1378-6C>T)
c.1633C>T (p.Leu545Phe)
c.1609-6C>T (n.1609-6C>T)
c.1126-6C>T (n.1126-6C>T)
c.1021-6C>T (n.1021-6C>T)
3g.122282108T>ACA354156099CASRc.1378-5T>A (n.1378-5T>A)
c.1634T>A (p.Leu545His)
c.1609-5T>A (n.1609-5T>A)
c.1126-5T>A (n.1126-5T>A)
c.1021-5T>A (n.1021-5T>A)
3g.122282108T>CCA354156100CASRc.1378-5T>C (n.1378-5T>C)
c.1634T>C (p.Leu545Pro)
c.1609-5T>C (n.1609-5T>C)
c.1126-5T>C (n.1126-5T>C)
c.1021-5T>C (n.1021-5T>C)
 ClinVar
3g.122282108T>GCA354156101CASRc.1378-5T>G (n.1378-5T>G)
c.1634T>G (p.Leu545Arg)
c.1609-5T>G (n.1609-5T>G)
c.1126-5T>G (n.1126-5T>G)
c.1021-5T>G (n.1021-5T>G)
3g.122282109C>ACA435251457CASRc.1378-4C>A (n.1378-4C>A)
c.1635C>A (p.Leu545=)
c.1609-4C>A (n.1609-4C>A)
c.1126-4C>A (n.1126-4C>A)
c.1021-4C>A (n.1021-4C>A)
3g.122282109C=CA1397885785CASRc.1378-4C= (n.1378-4C=)
c.1635C= (p.Leu545=)
c.1609-4C= (n.1609-4C=)
c.1126-4C= (n.1126-4C=)
c.1021-4C= (n.1021-4C=)
3g.122282109C>GCA435251458CASRc.1378-4C>G (n.1378-4C>G)
c.1635C>G (p.Leu545=)
c.1609-4C>G (n.1609-4C>G)
c.1126-4C>G (n.1126-4C>G)
c.1021-4C>G (n.1021-4C>G)
3g.122282109C>TCA82747947CASRc.1378-4C>T (n.1378-4C>T)
c.1635C>T (p.Leu545=)
c.1609-4C>T (n.1609-4C>T)
c.1126-4C>T (n.1126-4C>T)
c.1021-4C>T (n.1021-4C>T)
 ClinVar dbSNP gnomAD v4
3g.122282110C>ACA354156102CASRc.1378-3C>A (n.1378-3C>A)
c.1636C>A (p.Gln546Lys)
c.1609-3C>A (n.1609-3C>A)
c.1126-3C>A (n.1126-3C>A)
c.1021-3C>A (n.1021-3C>A)
3g.122282110C=CA1397885786CASRc.1378-3C= (n.1378-3C=)
c.1636C= (p.Gln546=)
c.1609-3C= (n.1609-3C=)
c.1126-3C= (n.1126-3C=)
c.1021-3C= (n.1021-3C=)
3g.122282110C>GCA354156103CASRc.1378-3C>G (n.1378-3C>G)
c.1636C>G (p.Gln546Glu)
c.1609-3C>G (n.1609-3C>G)
c.1126-3C>G (n.1126-3C>G)
c.1021-3C>G (n.1021-3C>G)
3g.122282110C>TCA354156104CASRc.1378-3C>T (n.1378-3C>T)
c.1636C>T (p.Gln546Ter)
c.1609-3C>T (n.1609-3C>T)
c.1126-3C>T (n.1126-3C>T)
c.1021-3C>T (n.1021-3C>T)
 dbSNP
3g.122282111A=CA1397885787CASRc.1378-2A= (n.1378-2A=)
c.1637A= (p.Gln546=)
c.1609-2A= (n.1609-2A=)
c.1126-2A= (n.1126-2A=)
c.1021-2A= (n.1021-2A=)
3g.122282111A>CCA354156105CASRc.1378-2A>C (n.1378-2A>C)
c.1637A>C (p.Gln546Pro)
c.1609-2A>C (n.1609-2A>C)
c.1126-2A>C (n.1126-2A>C)
c.1021-2A>C (n.1021-2A>C)
3g.122282111A>GCA354156106CASRc.1378-2A>G (n.1378-2A>G)
c.1637A>G (p.Gln546Arg)
c.1609-2A>G (n.1609-2A>G)
c.1126-2A>G (n.1126-2A>G)
c.1021-2A>G (n.1021-2A>G)
 ClinVar dbSNP
3g.122282111A>TCA2569713CASRc.1378-2A>T (n.1378-2A>T)
c.1637A>T (p.Gln546Leu)
c.1609-2A>T (n.1609-2A>T)
c.1126-2A>T (n.1126-2A>T)
c.1021-2A>T (n.1021-2A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122282112G>ACA354156109CASRc.1378-1G>A (n.1378-1G>A)
c.1638G>A (p.Gln546=)
c.1609-1G>A (n.1609-1G>A)
c.1126-1G>A (n.1126-1G>A)
c.1021-1G>A (n.1021-1G>A)
3g.122282112G>CCA354156108CASRc.1378-1G>C (n.1378-1G>C)
c.1638G>C (p.Gln546His)
c.1609-1G>C (n.1609-1G>C)
c.1126-1G>C (n.1126-1G>C)
c.1021-1G>C (n.1021-1G>C)
3g.122282112G>TCA354156107CASRc.1378-1G>T (n.1378-1G>T)
c.1638G>T (p.Gln546His)
c.1609-1G>T (n.1609-1G>T)
c.1126-1G>T (n.1126-1G>T)
c.1021-1G>T (n.1021-1G>T)
3g.122282113G>ACA354156112CASRc.1378G>A (p.Val460Met)
c.1639G>A (p.Val547Met)
c.1609G>A (p.Val537Met)
c.1126G>A (p.Val376Met)
c.1021G>A (p.Val341Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122282113G>CCA354156110CASRc.1378G>C (p.Val460Leu)
c.1639G>C (p.Val547Leu)
c.1609G>C (p.Val537Leu)
c.1126G>C (p.Val376Leu)
c.1021G>C (p.Val341Leu)
 ClinVar
3g.122282113G=CA1397885788CASRc.1378G= (p.Val460=)
c.1639G= (p.Val547=)
c.1609G= (p.Val537=)
c.1126G= (p.Val376=)
c.1021G= (p.Val341=)
3g.122282113G>TCA354156111CASRc.1378G>T (p.Val460Leu)
c.1639G>T (p.Val547Leu)
c.1609G>T (p.Val537Leu)
c.1126G>T (p.Val376Leu)
c.1021G>T (p.Val341Leu)
3g.122282114T>ACA354156113CASRc.1379T>A (p.Val460Glu)
c.1640T>A (p.Val547Glu)
c.1610T>A (p.Val537Glu)
c.1127T>A (p.Val376Glu)
c.1022T>A (p.Val341Glu)
3g.122282114T>CCA354156114CASRc.1379T>C (p.Val460Ala)
c.1640T>C (p.Val547Ala)
c.1610T>C (p.Val537Ala)
c.1127T>C (p.Val376Ala)
c.1022T>C (p.Val341Ala)
3g.122282114T>GCA354156115CASRc.1379T>G (p.Val460Gly)
c.1640T>G (p.Val547Gly)
c.1610T>G (p.Val537Gly)
c.1127T>G (p.Val376Gly)
c.1022T>G (p.Val341Gly)
3g.122282115G>ACA435251461CASRc.1380G>A (p.Val460=)
c.1641G>A (p.Val547=)
c.1611G>A (p.Val537=)
c.1128G>A (p.Val376=)
c.1023G>A (p.Val341=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122282115G>CCA435251460CASRc.1380G>C (p.Val460=)
c.1641G>C (p.Val547=)
c.1611G>C (p.Val537=)
c.1128G>C (p.Val376=)
c.1023G>C (p.Val341=)
 ClinVar dbSNP
3g.122282115G=CA1397885789CASRc.1380G= (p.Val460=)
c.1641G= (p.Val547=)
c.1611G= (p.Val537=)
c.1128G= (p.Val376=)
c.1023G= (p.Val341=)
3g.122282115G>TCA435251459CASRc.1380G>T (p.Val460=)
c.1641G>T (p.Val547=)
c.1611G>T (p.Val537=)
c.1128G>T (p.Val376=)
c.1023G>T (p.Val341=)
3g.122282116C>ACA354156118CASRc.1381C>A (p.Pro461Thr)
c.1642C>A (p.Pro548Thr)
c.1612C>A (p.Pro538Thr)
c.1129C>A (p.Pro377Thr)
c.1024C>A (p.Pro342Thr)
3g.122282116C>GCA354156117CASRc.1381C>G (p.Pro461Ala)
c.1642C>G (p.Pro548Ala)
c.1612C>G (p.Pro538Ala)
c.1129C>G (p.Pro377Ala)
c.1024C>G (p.Pro342Ala)
3g.122282116C>TCA354156116CASRc.1381C>T (p.Pro461Ser)
c.1642C>T (p.Pro548Ser)
c.1612C>T (p.Pro538Ser)
c.1129C>T (p.Pro377Ser)
c.1024C>T (p.Pro342Ser)
3g.122282117C>ACA354156119CASRc.1382C>A (p.Pro461His)
c.1643C>A (p.Pro548His)
c.1613C>A (p.Pro538His)
c.1130C>A (p.Pro377His)
c.1025C>A (p.Pro342His)
 COSMIC
3g.122282117C>GCA354156120CASRc.1382C>G (p.Pro461Arg)
c.1643C>G (p.Pro548Arg)
c.1613C>G (p.Pro538Arg)
c.1130C>G (p.Pro377Arg)
c.1025C>G (p.Pro342Arg)
3g.122282117C>TCA354156121CASRc.1382C>T (p.Pro461Leu)
c.1643C>T (p.Pro548Leu)
c.1613C>T (p.Pro538Leu)
c.1130C>T (p.Pro377Leu)
c.1025C>T (p.Pro342Leu)
3g.122282118C>ACA435251462CASRc.1383C>A (p.Pro461=)
c.1644C>A (p.Pro548=)
c.1614C>A (p.Pro538=)
c.1131C>A (p.Pro377=)
c.1026C>A (p.Pro342=)
3g.122282118C>GCA435251463CASRc.1383C>G (p.Pro461=)
c.1644C>G (p.Pro548=)
c.1614C>G (p.Pro538=)
c.1131C>G (p.Pro377=)
c.1026C>G (p.Pro342=)
3g.122282118C>TCA435251464CASRc.1383C>T (p.Pro461=)
c.1644C>T (p.Pro548=)
c.1614C>T (p.Pro538=)
c.1131C>T (p.Pro377=)
c.1026C>T (p.Pro342=)
3g.122282119T>ACA354156122CASRc.1384T>A (p.Phe462Ile)
c.1645T>A (p.Phe549Ile)
c.1615T>A (p.Phe539Ile)
c.1132T>A (p.Phe378Ile)
c.1027T>A (p.Phe343Ile)
3g.122282119T>CCA354156123CASRc.1384T>C (p.Phe462Leu)
c.1645T>C (p.Phe549Leu)
c.1615T>C (p.Phe539Leu)
c.1132T>C (p.Phe378Leu)
c.1027T>C (p.Phe343Leu)
3g.122282119T>GCA354156124CASRc.1384T>G (p.Phe462Val)
c.1645T>G (p.Phe549Val)
c.1615T>G (p.Phe539Val)
c.1132T>G (p.Phe378Val)
c.1027T>G (p.Phe343Val)
3g.122282120T>ACA354156125CASRc.1385T>A (p.Phe462Tyr)
c.1646T>A (p.Phe549Tyr)
c.1616T>A (p.Phe539Tyr)
c.1133T>A (p.Phe378Tyr)
c.1028T>A (p.Phe343Tyr)
 gnomAD v4
3g.122282120T>CCA354156127CASRc.1385T>C (p.Phe462Ser)
c.1646T>C (p.Phe549Ser)
c.1616T>C (p.Phe539Ser)
c.1133T>C (p.Phe378Ser)
c.1028T>C (p.Phe343Ser)
3g.122282120T>GCA354156126CASRc.1385T>G (p.Phe462Cys)
c.1646T>G (p.Phe549Cys)
c.1616T>G (p.Phe539Cys)
c.1133T>G (p.Phe378Cys)
c.1028T>G (p.Phe343Cys)
3g.122282121C>ACA354156128CASRc.1386C>A (p.Phe462Leu)
c.1647C>A (p.Phe549Leu)
c.1617C>A (p.Phe539Leu)
c.1134C>A (p.Phe378Leu)
c.1029C>A (p.Phe343Leu)
3g.122282121C=CA1397885790CASRc.1386C= (p.Phe462=)
c.1647C= (p.Phe549=)
c.1617C= (p.Phe539=)
c.1134C= (p.Phe378=)
c.1029C= (p.Phe343=)
3g.122282121C>GCA2569714CASRc.1386C>G (p.Phe462Leu)
c.1647C>G (p.Phe549Leu)
c.1617C>G (p.Phe539Leu)
c.1134C>G (p.Phe378Leu)
c.1029C>G (p.Phe343Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122282121C>TCA435251465CASRc.1386C>T (p.Phe462=)
c.1647C>T (p.Phe549=)
c.1617C>T (p.Phe539=)
c.1134C>T (p.Phe378=)
c.1029C>T (p.Phe343=)
3g.122282122T>ACA354156129CASRc.1387T>A (p.Ser463Thr)
c.1648T>A (p.Ser550Thr)
c.1618T>A (p.Ser540Thr)
c.1135T>A (p.Ser379Thr)
c.1030T>A (p.Ser344Thr)
 ClinVar
3g.122282122T>CCA354156130CASRc.1387T>C (p.Ser463Pro)
c.1648T>C (p.Ser550Pro)
c.1618T>C (p.Ser540Pro)
c.1135T>C (p.Ser379Pro)
c.1030T>C (p.Ser344Pro)
3g.122282122T>GCA354156131CASRc.1387T>G (p.Ser463Ala)
c.1648T>G (p.Ser550Ala)
c.1618T>G (p.Ser540Ala)
c.1135T>G (p.Ser379Ala)
c.1030T>G (p.Ser344Ala)
3g.122282123C>ACA354156132CASRc.1388C>A (p.Ser463Tyr)
c.1649C>A (p.Ser550Tyr)
c.1619C>A (p.Ser540Tyr)
c.1136C>A (p.Ser379Tyr)
c.1031C>A (p.Ser344Tyr)
3g.122282123C=CA1397885791CASRc.1388C= (p.Ser463=)
c.1649C= (p.Ser550=)
c.1619C= (p.Ser540=)
c.1136C= (p.Ser379=)
c.1031C= (p.Ser344=)
3g.122282123C>GCA354156133CASRc.1388C>G (p.Ser463Cys)
c.1649C>G (p.Ser550Cys)
c.1619C>G (p.Ser540Cys)
c.1136C>G (p.Ser379Cys)
c.1031C>G (p.Ser344Cys)
3g.122282123C>TCA16042450CASRc.1388C>T (p.Ser463Phe)
c.1649C>T (p.Ser550Phe)
c.1619C>T (p.Ser540Phe)
c.1136C>T (p.Ser379Phe)
c.1031C>T (p.Ser344Phe)
 ClinVar dbSNP
3g.122282124C>ACA435251466CASRc.1389C>A (p.Ser463=)
c.1650C>A (p.Ser550=)
c.1620C>A (p.Ser540=)
c.1137C>A (p.Ser379=)
c.1032C>A (p.Ser344=)
3g.122282124C=CA1397885792CASRc.1389C= (p.Ser463=)
c.1650C= (p.Ser550=)
c.1620C= (p.Ser540=)
c.1137C= (p.Ser379=)
c.1032C= (p.Ser344=)
3g.122282124C>GCA435251467CASRc.1389C>G (p.Ser463=)
c.1650C>G (p.Ser550=)
c.1620C>G (p.Ser540=)
c.1137C>G (p.Ser379=)
c.1032C>G (p.Ser344=)
3g.122282124C>TCA435251468CASRc.1389C>T (p.Ser463=)
c.1650C>T (p.Ser550=)
c.1620C>T (p.Ser540=)
c.1137C>T (p.Ser379=)
c.1032C>T (p.Ser344=)
 ClinVar dbSNP gnomAD v4
3g.122282125A>CCA354156134CASRc.1390A>C (p.Asn464His)
c.1651A>C (p.Asn551His)
c.1621A>C (p.Asn541His)
c.1138A>C (p.Asn380His)
c.1033A>C (p.Asn345His)
3g.122282125A>GCA354156135CASRc.1390A>G (p.Asn464Asp)
c.1651A>G (p.Asn551Asp)
c.1621A>G (p.Asn541Asp)
c.1138A>G (p.Asn380Asp)
c.1033A>G (p.Asn345Asp)
3g.122282125A>TCA354156136CASRc.1390A>T (p.Asn464Tyr)
c.1651A>T (p.Asn551Tyr)
c.1621A>T (p.Asn541Tyr)
c.1138A>T (p.Asn380Tyr)
c.1033A>T (p.Asn345Tyr)
3g.122282126A=CA1397885793CASRc.1391A= (p.Asn464=)
c.1652A= (p.Asn551=)
c.1622A= (p.Asn541=)
c.1139A= (p.Asn380=)
c.1034A= (p.Asn345=)
3g.122282126A>CCA354156138CASRc.1391A>C (p.Asn464Thr)
c.1652A>C (p.Asn551Thr)
c.1622A>C (p.Asn541Thr)
c.1139A>C (p.Asn380Thr)
c.1034A>C (p.Asn345Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122282126A>GCA2569715CASRc.1391A>G (p.Asn464Ser)
c.1652A>G (p.Asn551Ser)
c.1622A>G (p.Asn541Ser)
c.1139A>G (p.Asn380Ser)
c.1034A>G (p.Asn345Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122282126A>TCA354156137CASRc.1391A>T (p.Asn464Ile)
c.1652A>T (p.Asn551Ile)
c.1622A>T (p.Asn541Ile)
c.1139A>T (p.Asn380Ile)
c.1034A>T (p.Asn345Ile)
 dbSNP gnomAD v4
3g.122282126_122282129delinsACTGCA1397885794CASRc.1391_1394delinsACTG (p.Asn464=)
c.1652_1655delinsACTG (p.Asn551=)
c.1622_1625delinsACTG (p.Asn541=)
c.1139_1142delinsACTG (p.Asn380=)
c.1034_1037delinsACTG (p.Asn345=)
3g.122282127C>ACA354156139CASRc.1392C>A (p.Asn464Lys)
c.1653C>A (p.Asn551Lys)
c.1623C>A (p.Asn541Lys)
c.1140C>A (p.Asn380Lys)
c.1035C>A (p.Asn345Lys)
3g.122282127C>GCA354156140CASRc.1392C>G (p.Asn464Lys)
c.1653C>G (p.Asn551Lys)
c.1623C>G (p.Asn541Lys)
c.1140C>G (p.Asn380Lys)
c.1035C>G (p.Asn345Lys)
3g.122282127C>TCA435251469CASRc.1392C>T (p.Asn464=)
c.1653C>T (p.Asn551=)
c.1623C>T (p.Asn541=)
c.1140C>T (p.Asn380=)
c.1035C>T (p.Asn345=)
3g.122282128_122282130delCA16611305CASRc.1393_1395del (p.Cys465del)
c.1654_1656del (p.Cys552del)
c.1624_1626del (p.Cys542del)
c.1141_1143del (p.Cys381del)
c.1036_1038del (p.Cys346del)
 ClinVar dbSNP
3g.122282128T>ACA354156141CASRc.1393T>A (p.Cys465Ser)
c.1654T>A (p.Cys552Ser)
c.1624T>A (p.Cys542Ser)
c.1141T>A (p.Cys381Ser)
c.1036T>A (p.Cys346Ser)
3g.122282128T>CCA354156142CASRc.1393T>C (p.Cys465Arg)
c.1654T>C (p.Cys552Arg)
c.1624T>C (p.Cys542Arg)
c.1141T>C (p.Cys381Arg)
c.1036T>C (p.Cys346Arg)
3g.122282128T>GCA354156143CASRc.1393T>G (p.Cys465Gly)
c.1654T>G (p.Cys552Gly)
c.1624T>G (p.Cys542Gly)
c.1141T>G (p.Cys381Gly)
c.1036T>G (p.Cys346Gly)
3g.122282129G>ACA354156144CASRc.1394G>A (p.Cys465Tyr)
c.1655G>A (p.Cys552Tyr)
c.1625G>A (p.Cys542Tyr)
c.1142G>A (p.Cys381Tyr)
c.1037G>A (p.Cys346Tyr)
3g.122282129G>CCA354156145CASRc.1394G>C (p.Cys465Ser)
c.1655G>C (p.Cys552Ser)
c.1625G>C (p.Cys542Ser)
c.1142G>C (p.Cys381Ser)
c.1037G>C (p.Cys346Ser)
3g.122282129G>TCA354156146CASRc.1394G>T (p.Cys465Phe)
c.1655G>T (p.Cys552Phe)
c.1625G>T (p.Cys542Phe)
c.1142G>T (p.Cys381Phe)
c.1037G>T (p.Cys346Phe)
3g.122282130C>ACA354156147CASRc.1395C>A (p.Cys465Ter)
c.1656C>A (p.Cys552Ter)
c.1626C>A (p.Cys542Ter)
c.1143C>A (p.Cys381Ter)
c.1038C>A (p.Cys346Ter)
3g.122282130C=CA1397885795CASRc.1395C= (p.Cys465=)
c.1656C= (p.Cys552=)
c.1626C= (p.Cys542=)
c.1143C= (p.Cys381=)
c.1038C= (p.Cys346=)
3g.122282130C>GCA354156148CASRc.1395C>G (p.Cys465Trp)
c.1656C>G (p.Cys552Trp)
c.1626C>G (p.Cys542Trp)
c.1143C>G (p.Cys381Trp)
c.1038C>G (p.Cys346Trp)
3g.122282130C>TCA435251470CASRc.1395C>T (p.Cys465=)
c.1656C>T (p.Cys552=)
c.1626C>T (p.Cys542=)
c.1143C>T (p.Cys381=)
c.1038C>T (p.Cys346=)
 ClinVar dbSNP
3g.122282131A>CCA354156149CASRc.1396A>C (p.Ser466Arg)
c.1657A>C (p.Ser553Arg)
c.1627A>C (p.Ser543Arg)
c.1144A>C (p.Ser382Arg)
c.1039A>C (p.Ser347Arg)
3g.122282131A>GCA354156150CASRc.1396A>G (p.Ser466Gly)
c.1657A>G (p.Ser553Gly)
c.1627A>G (p.Ser543Gly)
c.1144A>G (p.Ser382Gly)
c.1039A>G (p.Ser347Gly)
3g.122282131A>TCA354156151CASRc.1396A>T (p.Ser466Cys)
c.1657A>T (p.Ser553Cys)
c.1627A>T (p.Ser543Cys)
c.1144A>T (p.Ser382Cys)
c.1039A>T (p.Ser347Cys)
3g.122282132G>ACA354156154CASRc.1397G>A (p.Ser466Asn)
c.1658G>A (p.Ser553Asn)
c.1628G>A (p.Ser543Asn)
c.1145G>A (p.Ser382Asn)
c.1040G>A (p.Ser347Asn)
 ClinVar
3g.122282132G>CCA354156152CASRc.1397G>C (p.Ser466Thr)
c.1658G>C (p.Ser553Thr)
c.1628G>C (p.Ser543Thr)
c.1145G>C (p.Ser382Thr)
c.1040G>C (p.Ser347Thr)
 ClinVar dbSNP
3g.122282132G=CA1397885796CASRc.1397G= (p.Ser466=)
c.1658G= (p.Ser553=)
c.1628G= (p.Ser543=)
c.1145G= (p.Ser382=)
c.1040G= (p.Ser347=)
3g.122282132G>TCA354156153CASRc.1397G>T (p.Ser466Ile)
c.1658G>T (p.Ser553Ile)
c.1628G>T (p.Ser543Ile)
c.1145G>T (p.Ser382Ile)
c.1040G>T (p.Ser347Ile)
3g.122282133C>ACA354156155CASRc.1398C>A (p.Ser466Arg)
c.1659C>A (p.Ser553Arg)
c.1629C>A (p.Ser543Arg)
c.1146C>A (p.Ser382Arg)
c.1041C>A (p.Ser347Arg)
3g.122282133C=CA1397885797CASRc.1398C= (p.Ser466=)
c.1659C= (p.Ser553=)
c.1629C= (p.Ser543=)
c.1146C= (p.Ser382=)
c.1041C= (p.Ser347=)
3g.122282133C>GCA354156156CASRc.1398C>G (p.Ser466Arg)
c.1659C>G (p.Ser553Arg)
c.1629C>G (p.Ser543Arg)
c.1146C>G (p.Ser382Arg)
c.1041C>G (p.Ser347Arg)
3g.122282133C>TCA216124CASRc.1398C>T (p.Ser466=)
c.1659C>T (p.Ser553=)
c.1629C>T (p.Ser543=)
c.1146C>T (p.Ser382=)
c.1041C>T (p.Ser347=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122282134C>ACA435251471CASRc.1399C>A (p.Arg467=)
c.1660C>A (p.Arg554=)
c.1630C>A (p.Arg544=)
c.1147C>A (p.Arg383=)
c.1042C>A (p.Arg348=)
 gnomAD v4
3g.122282134C=CA1397885798CASRc.1399C= (p.Arg467=)
c.1660C= (p.Arg554=)
c.1630C= (p.Arg544=)
c.1147C= (p.Arg383=)
c.1042C= (p.Arg348=)
3g.122282134C>GCA354156157CASRc.1399C>G (p.Arg467Gly)
c.1660C>G (p.Arg554Gly)
c.1630C>G (p.Arg544Gly)
c.1147C>G (p.Arg383Gly)
c.1042C>G (p.Arg348Gly)
3g.122282134C>TCA10602891CASRc.1399C>T (p.Arg467Ter)
c.1660C>T (p.Arg554Ter)
c.1630C>T (p.Arg544Ter)
c.1147C>T (p.Arg383Ter)
c.1042C>T (p.Arg348Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122282135G>ACA2569716CASRc.1400G>A (p.Arg467Gln)
c.1661G>A (p.Arg554Gln)
c.1631G>A (p.Arg544Gln)
c.1148G>A (p.Arg383Gln)
c.1043G>A (p.Arg348Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122282135G>CCA354156158CASRc.1400G>C (p.Arg467Pro)
c.1661G>C (p.Arg554Pro)
c.1631G>C (p.Arg544Pro)
c.1148G>C (p.Arg383Pro)
c.1043G>C (p.Arg348Pro)
3g.122282135G=CA1397885799CASRc.1400G= (p.Arg467=)
c.1661G= (p.Arg554=)
c.1631G= (p.Arg544=)
c.1148G= (p.Arg383=)
c.1043G= (p.Arg348=)
3g.122282135G>TCA2569717CASRc.1400G>T (p.Arg467Leu)
c.1661G>T (p.Arg554Leu)
c.1631G>T (p.Arg544Leu)
c.1148G>T (p.Arg383Leu)
c.1043G>T (p.Arg348Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122282136A>CCA435251472CASRc.1401A>C (p.Arg467=)
c.1662A>C (p.Arg554=)
c.1632A>C (p.Arg544=)
c.1149A>C (p.Arg383=)
c.1044A>C (p.Arg348=)
3g.122282136A>GCA435251473CASRc.1401A>G (p.Arg467=)
c.1662A>G (p.Arg554=)
c.1632A>G (p.Arg544=)
c.1149A>G (p.Arg383=)
c.1044A>G (p.Arg348=)
3g.122282136A>TCA435251474CASRc.1401A>T (p.Arg467=)
c.1662A>T (p.Arg554=)
c.1632A>T (p.Arg544=)
c.1149A>T (p.Arg383=)
c.1044A>T (p.Arg348=)
3g.122282137G>ACA354156159CASRc.1402G>A (p.Asp468Asn)
c.1663G>A (p.Asp555Asn)
c.1633G>A (p.Asp545Asn)
c.1150G>A (p.Asp384Asn)
c.1045G>A (p.Asp349Asn)
 dbSNP gnomAD v2 gnomAD v4
3g.122282137G>CCA354156160CASRc.1402G>C (p.Asp468His)
c.1663G>C (p.Asp555His)
c.1633G>C (p.Asp545His)
c.1150G>C (p.Asp384His)
c.1045G>C (p.Asp349His)
3g.122282137G=CA1397885800CASRc.1402G= (p.Asp468=)
c.1663G= (p.Asp555=)
c.1633G= (p.Asp545=)
c.1150G= (p.Asp384=)
c.1045G= (p.Asp349=)
3g.122282137G>TCA354156161CASRc.1402G>T (p.Asp468Tyr)
c.1663G>T (p.Asp555Tyr)
c.1633G>T (p.Asp545Tyr)
c.1150G>T (p.Asp384Tyr)
c.1045G>T (p.Asp349Tyr)
 COSMIC
3g.122282138A>CCA354156163CASRc.1403A>C (p.Asp468Ala)
c.1664A>C (p.Asp555Ala)
c.1634A>C (p.Asp545Ala)
c.1151A>C (p.Asp384Ala)
c.1046A>C (p.Asp349Ala)
3g.122282138A>GCA354156164CASRc.1403A>G (p.Asp468Gly)
c.1664A>G (p.Asp555Gly)
c.1634A>G (p.Asp545Gly)
c.1151A>G (p.Asp384Gly)
c.1046A>G (p.Asp349Gly)
3g.122282138A>TCA354156162CASRc.1403A>T (p.Asp468Val)
c.1664A>T (p.Asp555Val)
c.1634A>T (p.Asp545Val)
c.1151A>T (p.Asp384Val)
c.1046A>T (p.Asp349Val)
3g.122282139C>ACA354156165CASRc.1404C>A (p.Asp468Glu)
c.1665C>A (p.Asp555Glu)
c.1635C>A (p.Asp545Glu)
c.1152C>A (p.Asp384Glu)
c.1047C>A (p.Asp349Glu)
3g.122282139C>GCA354156166CASRc.1404C>G (p.Asp468Glu)
c.1665C>G (p.Asp555Glu)
c.1635C>G (p.Asp545Glu)
c.1152C>G (p.Asp384Glu)
c.1047C>G (p.Asp349Glu)
3g.122282139C>TCA435251475CASRc.1404C>T (p.Asp468=)
c.1665C>T (p.Asp555=)
c.1635C>T (p.Asp545=)
c.1152C>T (p.Asp384=)
c.1047C>T (p.Asp349=)
3g.122282140T>ACA354156167CASRc.1405T>A (p.Cys469Ser)
c.1666T>A (p.Cys556Ser)
c.1636T>A (p.Cys546Ser)
c.1153T>A (p.Cys385Ser)
c.1048T>A (p.Cys350Ser)
3g.122282140T>CCA354156168CASRc.1405T>C (p.Cys469Arg)
c.1666T>C (p.Cys556Arg)
c.1636T>C (p.Cys546Arg)
c.1153T>C (p.Cys385Arg)
c.1048T>C (p.Cys350Arg)
3g.122282140T>GCA354156169CASRc.1405T>G (p.Cys469Gly)
c.1666T>G (p.Cys556Gly)
c.1636T>G (p.Cys546Gly)
c.1153T>G (p.Cys385Gly)
c.1048T>G (p.Cys350Gly)
3g.122282141G>ACA354156170CASRc.1406G>A (p.Cys469Tyr)
c.1667G>A (p.Cys556Tyr)
c.1637G>A (p.Cys546Tyr)
c.1154G>A (p.Cys385Tyr)
c.1049G>A (p.Cys350Tyr)
 ClinVar dbSNP
3g.122282141G>CCA354156171CASRc.1406G>C (p.Cys469Ser)
c.1667G>C (p.Cys556Ser)
c.1637G>C (p.Cys546Ser)
c.1154G>C (p.Cys385Ser)
c.1049G>C (p.Cys350Ser)
3g.122282141G>TCA354156172CASRc.1406G>T (p.Cys469Phe)
c.1667G>T (p.Cys556Phe)
c.1637G>T (p.Cys546Phe)
c.1154G>T (p.Cys385Phe)
c.1049G>T (p.Cys350Phe)
 ClinVar dbSNP
3g.122282142C>ACA354156173CASRc.1407C>A (p.Cys469Ter)
c.1668C>A (p.Cys556Ter)
c.1638C>A (p.Cys546Ter)
c.1155C>A (p.Cys385Ter)
c.1050C>A (p.Cys350Ter)
 gnomAD v4
3g.122282142C=CA1397885801CASRc.1407C= (p.Cys469=)
c.1668C= (p.Cys556=)
c.1638C= (p.Cys546=)
c.1155C= (p.Cys385=)
c.1050C= (p.Cys350=)
3g.122282142C>GCA354156174CASRc.1407C>G (p.Cys469Trp)
c.1668C>G (p.Cys556Trp)
c.1638C>G (p.Cys546Trp)
c.1155C>G (p.Cys385Trp)
c.1050C>G (p.Cys350Trp)
3g.122282142C>TCA2569718CASRc.1407C>T (p.Cys469=)
c.1668C>T (p.Cys556=)
c.1638C>T (p.Cys546=)
c.1155C>T (p.Cys385=)
c.1050C>T (p.Cys350=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122282143C>ACA354156175CASRc.1408C>A (p.Leu470Met)
c.1669C>A (p.Leu557Met)
c.1639C>A (p.Leu547Met)
c.1156C>A (p.Leu386Met)
c.1051C>A (p.Leu351Met)
 gnomAD v4
3g.122282143C>GCA354156176CASRc.1408C>G (p.Leu470Val)
c.1669C>G (p.Leu557Val)
c.1639C>G (p.Leu547Val)
c.1156C>G (p.Leu386Val)
c.1051C>G (p.Leu351Val)
3g.122282143C>TCA435251477CASRc.1408C>T (p.Leu470=)
c.1669C>T (p.Leu557=)
c.1639C>T (p.Leu547=)
c.1156C>T (p.Leu386=)
c.1051C>T (p.Leu351=)
 ClinVar
3g.122282144T>ACA354156179CASRc.1409T>A (p.Leu470Gln)
c.1670T>A (p.Leu557Gln)
c.1640T>A (p.Leu547Gln)
c.1157T>A (p.Leu386Gln)
c.1052T>A (p.Leu351Gln)
3g.122282144T>CCA354156178CASRc.1409T>C (p.Leu470Pro)
c.1670T>C (p.Leu557Pro)
c.1640T>C (p.Leu547Pro)
c.1157T>C (p.Leu386Pro)
c.1052T>C (p.Leu351Pro)
 ClinVar dbSNP
3g.122282144T>GCA354156177CASRc.1409T>G (p.Leu470Arg)
c.1670T>G (p.Leu557Arg)
c.1640T>G (p.Leu547Arg)
c.1157T>G (p.Leu386Arg)
c.1052T>G (p.Leu351Arg)
3g.122282144T=CA1397885802CASRc.1409T= (p.Leu470=)
c.1670T= (p.Leu557=)
c.1640T= (p.Leu547=)
c.1157T= (p.Leu386=)
c.1052T= (p.Leu351=)
3g.122282145G>ACA435251478CASRc.1410G>A (p.Leu470=)
c.1671G>A (p.Leu557=)
c.1641G>A (p.Leu547=)
c.1158G>A (p.Leu386=)
c.1053G>A (p.Leu351=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122282145G>CCA435251479CASRc.1410G>C (p.Leu470=)
c.1671G>C (p.Leu557=)
c.1641G>C (p.Leu547=)
c.1158G>C (p.Leu386=)
c.1053G>C (p.Leu351=)
 dbSNP
3g.122282145G=CA1397885803CASRc.1410G= (p.Leu470=)
c.1671G= (p.Leu557=)
c.1641G= (p.Leu547=)
c.1158G= (p.Leu386=)
c.1053G= (p.Leu351=)
3g.122282145G>TCA435251480CASRc.1410G>T (p.Leu470=)
c.1671G>T (p.Leu557=)
c.1641G>T (p.Leu547=)
c.1158G>T (p.Leu386=)
c.1053G>T (p.Leu351=)
 gnomAD v4
3g.122282146G>ACA2569719CASRc.1411G>A (p.Ala471Thr)
c.1672G>A (p.Ala558Thr)
c.1642G>A (p.Ala548Thr)
c.1159G>A (p.Ala387Thr)
c.1054G>A (p.Ala352Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122282146G>CCA354156180CASRc.1411G>C (p.Ala471Pro)
c.1672G>C (p.Ala558Pro)
c.1642G>C (p.Ala548Pro)
c.1159G>C (p.Ala387Pro)
c.1054G>C (p.Ala352Pro)
3g.122282146G=CA1397885804CASRc.1411G= (p.Ala471=)
c.1672G= (p.Ala558=)
c.1642G= (p.Ala548=)
c.1159G= (p.Ala387=)
c.1054G= (p.Ala352=)
3g.122282146G>TCA82747979CASRc.1411G>T (p.Ala471Ser)
c.1672G>T (p.Ala558Ser)
c.1642G>T (p.Ala548Ser)
c.1159G>T (p.Ala387Ser)
c.1054G>T (p.Ala352Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122282147C>ACA354156181CASRc.1412C>A (p.Ala471Glu)
c.1673C>A (p.Ala558Glu)
c.1643C>A (p.Ala548Glu)
c.1160C>A (p.Ala387Glu)
c.1055C>A (p.Ala352Glu)
 ClinVar gnomAD v4
3g.122282147C>GCA354156182CASRc.1412C>G (p.Ala471Gly)
c.1673C>G (p.Ala558Gly)
c.1643C>G (p.Ala548Gly)
c.1160C>G (p.Ala387Gly)
c.1055C>G (p.Ala352Gly)
3g.122282147C>TCA354156183CASRc.1412C>T (p.Ala471Val)
c.1673C>T (p.Ala558Val)
c.1643C>T (p.Ala548Val)
c.1160C>T (p.Ala387Val)
c.1055C>T (p.Ala352Val)
3g.122282148A>CCA435251481CASRc.1413A>C (p.Ala471=)
c.1674A>C (p.Ala558=)
c.1644A>C (p.Ala548=)
c.1161A>C (p.Ala387=)
c.1056A>C (p.Ala352=)
3g.122282148A>GCA435251482CASRc.1413A>G (p.Ala471=)
c.1674A>G (p.Ala558=)
c.1644A>G (p.Ala548=)
c.1161A>G (p.Ala387=)
c.1056A>G (p.Ala352=)
3g.122282148A>TCA435251483CASRc.1413A>T (p.Ala471=)
c.1674A>T (p.Ala558=)
c.1644A>T (p.Ala548=)
c.1161A>T (p.Ala387=)
c.1056A>T (p.Ala352=)
3g.122282149G>ACA354156184CASRc.1414G>A (p.Gly472Arg)
c.1675G>A (p.Gly559Arg)
c.1645G>A (p.Gly549Arg)
c.1162G>A (p.Gly388Arg)
c.1057G>A (p.Gly353Arg)
 ClinVar dbSNP
3g.122282149G>CCA354156185CASRc.1414G>C (p.Gly472Arg)
c.1675G>C (p.Gly559Arg)
c.1645G>C (p.Gly549Arg)
c.1162G>C (p.Gly388Arg)
c.1057G>C (p.Gly353Arg)
3g.122282149G>TCA354156186CASRc.1414G>T (p.Gly472Trp)
c.1675G>T (p.Gly559Trp)
c.1645G>T (p.Gly549Trp)
c.1162G>T (p.Gly388Trp)
c.1057G>T (p.Gly353Trp)
3g.122282150G>ACA354156187CASRc.1415G>A (p.Gly472Glu)
c.1676G>A (p.Gly559Glu)
c.1646G>A (p.Gly549Glu)
c.1163G>A (p.Gly388Glu)
c.1058G>A (p.Gly353Glu)
 ClinVar dbSNP
3g.122282150G>CCA354156188CASRc.1415G>C (p.Gly472Ala)
c.1676G>C (p.Gly559Ala)
c.1646G>C (p.Gly549Ala)
c.1163G>C (p.Gly388Ala)
c.1058G>C (p.Gly353Ala)
3g.122282150G>TCA354156189CASRc.1415G>T (p.Gly472Val)
c.1676G>T (p.Gly559Val)
c.1646G>T (p.Gly549Val)
c.1163G>T (p.Gly388Val)
c.1058G>T (p.Gly353Val)
3g.122282151G>ACA435251484CASRc.1416G>A (p.Gly472=)
c.1677G>A (p.Gly559=)
c.1647G>A (p.Gly549=)
c.1164G>A (p.Gly388=)
c.1059G>A (p.Gly353=)
 dbSNP gnomAD v4
3g.122282151G>CCA435251485CASRc.1416G>C (p.Gly472=)
c.1677G>C (p.Gly559=)
c.1647G>C (p.Gly549=)
c.1164G>C (p.Gly388=)
c.1059G>C (p.Gly353=)
3g.122282151G=CA1397885805CASRc.1416G= (p.Gly472=)
c.1677G= (p.Gly559=)
c.1647G= (p.Gly549=)
c.1164G= (p.Gly388=)
c.1059G= (p.Gly353=)
3g.122282151G>TCA435251486CASRc.1416G>T (p.Gly472=)
c.1677G>T (p.Gly559=)
c.1647G>T (p.Gly549=)
c.1164G>T (p.Gly388=)
c.1059G>T (p.Gly353=)
 ClinVar dbSNP gnomAD v4
3g.122282152A>CCA354156192CASRc.1417A>C (p.Thr473Pro)
c.1678A>C (p.Thr560Pro)
c.1648A>C (p.Thr550Pro)
c.1165A>C (p.Thr389Pro)
c.1060A>C (p.Thr354Pro)
3g.122282152A>GCA354156191CASRc.1417A>G (p.Thr473Ala)
c.1678A>G (p.Thr560Ala)
c.1648A>G (p.Thr550Ala)
c.1165A>G (p.Thr389Ala)
c.1060A>G (p.Thr354Ala)
3g.122282152A>TCA354156190CASRc.1417A>T (p.Thr473Ser)
c.1678A>T (p.Thr560Ser)
c.1648A>T (p.Thr550Ser)
c.1165A>T (p.Thr389Ser)
c.1060A>T (p.Thr354Ser)
3g.122282153C>ACA354156193CASRc.1418C>A (p.Thr473Asn)
c.1679C>A (p.Thr560Asn)
c.1649C>A (p.Thr550Asn)
c.1166C>A (p.Thr389Asn)
c.1061C>A (p.Thr354Asn)
3g.122282153C>GCA354156195CASRc.1418C>G (p.Thr473Ser)
c.1679C>G (p.Thr560Ser)
c.1649C>G (p.Thr550Ser)
c.1166C>G (p.Thr389Ser)
c.1061C>G (p.Thr354Ser)
3g.122282153C>TCA354156194CASRc.1418C>T (p.Thr473Ile)
c.1679C>T (p.Thr560Ile)
c.1649C>T (p.Thr550Ile)
c.1166C>T (p.Thr389Ile)
c.1061C>T (p.Thr354Ile)
3g.122282154C>ACA435251490CASRc.1419C>A (p.Thr473=)
c.1680C>A (p.Thr560=)
c.1650C>A (p.Thr550=)
c.1167C>A (p.Thr389=)
c.1062C>A (p.Thr354=)
 ClinVar
3g.122282154C>GCA435251491CASRc.1419C>G (p.Thr473=)
c.1680C>G (p.Thr560=)
c.1650C>G (p.Thr550=)
c.1167C>G (p.Thr389=)
c.1062C>G (p.Thr354=)
3g.122282154C>TCA435251492CASRc.1419C>T (p.Thr473=)
c.1680C>T (p.Thr560=)
c.1650C>T (p.Thr550=)
c.1167C>T (p.Thr389=)
c.1062C>T (p.Thr354=)
 gnomAD v4 COSMIC
3g.122282155A>CCA435251493CASRc.1420A>C (p.Arg474=)
c.1681A>C (p.Arg561=)
c.1651A>C (p.Arg551=)
c.1168A>C (p.Arg390=)
c.1063A>C (p.Arg355=)
3g.122282155A>GCA354156196CASRc.1420A>G (p.Arg474Gly)
c.1681A>G (p.Arg561Gly)
c.1651A>G (p.Arg551Gly)
c.1168A>G (p.Arg390Gly)
c.1063A>G (p.Arg355Gly)
3g.122282155A>TCA354156197CASRc.1420A>T (p.Arg474Trp)
c.1681A>T (p.Arg561Trp)
c.1651A>T (p.Arg551Trp)
c.1168A>T (p.Arg390Trp)
c.1063A>T (p.Arg355Trp)
3g.122282156G>ACA16611307CASRc.1421G>A (p.Arg474Lys)
c.1682G>A (p.Arg561Lys)
c.1652G>A (p.Arg551Lys)
c.1169G>A (p.Arg390Lys)
c.1064G>A (p.Arg355Lys)
 ClinVar dbSNP COSMIC
3g.122282156G>CCA354156198CASRc.1421G>C (p.Arg474Thr)
c.1682G>C (p.Arg561Thr)
c.1652G>C (p.Arg551Thr)
c.1169G>C (p.Arg390Thr)
c.1064G>C (p.Arg355Thr)
3g.122282156G=CA1397885806CASRc.1421G= (p.Arg474=)
c.1682G= (p.Arg561=)
c.1652G= (p.Arg551=)
c.1169G= (p.Arg390=)
c.1064G= (p.Arg355=)
3g.122282156G>TCA354156199CASRc.1421G>T (p.Arg474Met)
c.1682G>T (p.Arg561Met)
c.1652G>T (p.Arg551Met)
c.1169G>T (p.Arg390Met)
c.1064G>T (p.Arg355Met)
3g.122282157G>ACA435251497CASRc.1422G>A (p.Arg474=)
c.1683G>A (p.Arg561=)
c.1653G>A (p.Arg551=)
c.1170G>A (p.Arg390=)
c.1065G>A (p.Arg355=)
 ClinVar dbSNP
3g.122282157G>CCA354156200CASRc.1422G>C (p.Arg474Ser)
c.1683G>C (p.Arg561Ser)
c.1653G>C (p.Arg551Ser)
c.1170G>C (p.Arg390Ser)
c.1065G>C (p.Arg355Ser)
3g.122282157G=CA1397885807CASRc.1422G= (p.Arg474=)
c.1683G= (p.Arg561=)
c.1653G= (p.Arg551=)
c.1170G= (p.Arg390=)
c.1065G= (p.Arg355=)
3g.122282157G>TCA354156201CASRc.1422G>T (p.Arg474Ser)
c.1683G>T (p.Arg561Ser)
c.1653G>T (p.Arg551Ser)
c.1170G>T (p.Arg390Ser)
c.1065G>T (p.Arg355Ser)
3g.122282158A>CCA354156204CASRc.1423A>C (p.Lys475Gln)
c.1684A>C (p.Lys562Gln)
c.1654A>C (p.Lys552Gln)
c.1171A>C (p.Lys391Gln)
c.1066A>C (p.Lys356Gln)
3g.122282158A>GCA354156202CASRc.1423A>G (p.Lys475Glu)
c.1684A>G (p.Lys562Glu)
c.1654A>G (p.Lys552Glu)
c.1171A>G (p.Lys391Glu)
c.1066A>G (p.Lys356Glu)
3g.122282158A>TCA354156203CASRc.1423A>T (p.Lys475Ter)
c.1684A>T (p.Lys562Ter)
c.1654A>T (p.Lys552Ter)
c.1171A>T (p.Lys391Ter)
c.1066A>T (p.Lys356Ter)
3g.122282160delCA2580618229CASRc.1425del (p.Ile477SerfsTer?)
c.1686del (p.Ile564SerfsTer?)
c.1656del (p.Ile554SerfsTer?)
c.1173del (p.Ile393SerfsTer?)
c.1068del (p.Ile358SerfsTer?)
3g.122282159A>CCA354156205CASRc.1424A>C (p.Lys475Thr)
c.1685A>C (p.Lys562Thr)
c.1655A>C (p.Lys552Thr)
c.1172A>C (p.Lys391Thr)
c.1067A>C (p.Lys356Thr)
3g.122282159A>GCA354156206CASRc.1424A>G (p.Lys475Arg)
c.1685A>G (p.Lys562Arg)
c.1655A>G (p.Lys552Arg)
c.1172A>G (p.Lys391Arg)
c.1067A>G (p.Lys356Arg)
3g.122282159A>TCA354156207CASRc.1424A>T (p.Lys475Ile)
c.1685A>T (p.Lys562Ile)
c.1655A>T (p.Lys552Ile)
c.1172A>T (p.Lys391Ile)
c.1067A>T (p.Lys356Ile)
3g.122282160A>CCA354156208CASRc.1425A>C (p.Lys475Asn)
c.1686A>C (p.Lys562Asn)
c.1656A>C (p.Lys552Asn)
c.1173A>C (p.Lys391Asn)
c.1068A>C (p.Lys356Asn)
3g.122282160A>GCA435251501CASRc.1425A>G (p.Lys475=)
c.1686A>G (p.Lys562=)
c.1656A>G (p.Lys552=)
c.1173A>G (p.Lys391=)
c.1068A>G (p.Lys356=)
3g.122282160A>TCA354156209CASRc.1425A>T (p.Lys475Asn)
c.1686A>T (p.Lys562Asn)
c.1656A>T (p.Lys552Asn)
c.1173A>T (p.Lys391Asn)
c.1068A>T (p.Lys356Asn)
3g.122282161G>ACA119547CASRc.1426G>A (p.Gly476Arg)
c.1687G>A (p.Gly563Arg)
c.1657G>A (p.Gly553Arg)
c.1174G>A (p.Gly392Arg)
c.1069G>A (p.Gly357Arg)
 ClinVar dbSNP
3g.122282161G>CCA354156211CASRc.1426G>C (p.Gly476Arg)
c.1687G>C (p.Gly563Arg)
c.1657G>C (p.Gly553Arg)
c.1174G>C (p.Gly392Arg)
c.1069G>C (p.Gly357Arg)
3g.122282161G=CA1397885808CASRc.1426G= (p.Gly476=)
c.1687G= (p.Gly563=)
c.1657G= (p.Gly553=)
c.1174G= (p.Gly392=)
c.1069G= (p.Gly357=)
3g.122282161G>TCA354156210CASRc.1426G>T (p.Gly476Trp)
c.1687G>T (p.Gly563Trp)
c.1657G>T (p.Gly553Trp)
c.1174G>T (p.Gly392Trp)
c.1069G>T (p.Gly357Trp)
3g.122282162G>ACA354156212CASRc.1427G>A (p.Gly476Glu)
c.1688G>A (p.Gly563Glu)
c.1658G>A (p.Gly553Glu)
c.1175G>A (p.Gly392Glu)
c.1070G>A (p.Gly357Glu)
3g.122282162G>CCA354156213CASRc.1427G>C (p.Gly476Ala)
c.1688G>C (p.Gly563Ala)
c.1658G>C (p.Gly553Ala)
c.1175G>C (p.Gly392Ala)
c.1070G>C (p.Gly357Ala)
3g.122282162G=CA1397885809CASRc.1427G= (p.Gly476=)
c.1688G= (p.Gly563=)
c.1658G= (p.Gly553=)
c.1175G= (p.Gly392=)
c.1070G= (p.Gly357=)
3g.122282162G>TCA354156214CASRc.1427G>T (p.Gly476Val)
c.1688G>T (p.Gly563Val)
c.1658G>T (p.Gly553Val)
c.1175G>T (p.Gly392Val)
c.1070G>T (p.Gly357Val)
 ClinVar dbSNP
3g.122282163G>ACA435251508CASRc.1428G>A (p.Gly476=)
c.1689G>A (p.Gly563=)
c.1659G>A (p.Gly553=)
c.1176G>A (p.Gly392=)
c.1071G>A (p.Gly357=)
3g.122282163G>CCA435251506CASRc.1428G>C (p.Gly476=)
c.1689G>C (p.Gly563=)
c.1659G>C (p.Gly553=)
c.1176G>C (p.Gly392=)
c.1071G>C (p.Gly357=)
3g.122282163G>TCA435251507CASRc.1428G>T (p.Gly476=)
c.1689G>T (p.Gly563=)
c.1659G>T (p.Gly553=)
c.1176G>T (p.Gly392=)
c.1071G>T (p.Gly357=)
3g.122282164A=CA1397885810CASRc.1429A= (p.Ile477=)
c.1690A= (p.Ile564=)
c.1660A= (p.Ile554=)
c.1177A= (p.Ile393=)
c.1072A= (p.Ile358=)
3g.122282164A>CCA354156215CASRc.1429A>C (p.Ile477Leu)
c.1690A>C (p.Ile564Leu)
c.1660A>C (p.Ile554Leu)
c.1177A>C (p.Ile393Leu)
c.1072A>C (p.Ile358Leu)
3g.122282164A>GCA354156216CASRc.1429A>G (p.Ile477Val)
c.1690A>G (p.Ile564Val)
c.1660A>G (p.Ile554Val)
c.1177A>G (p.Ile393Val)
c.1072A>G (p.Ile358Val)
3g.122282164A>TCA354156217CASRc.1429A>T (p.Ile477Phe)
c.1690A>T (p.Ile564Phe)
c.1660A>T (p.Ile554Phe)
c.1177A>T (p.Ile393Phe)
c.1072A>T (p.Ile358Phe)
 ClinVar dbSNP
3g.122282165T>ACA354156218CASRc.1430T>A (p.Ile477Asn)
c.1691T>A (p.Ile564Asn)
c.1661T>A (p.Ile554Asn)
c.1178T>A (p.Ile393Asn)
c.1073T>A (p.Ile358Asn)
3g.122282165T>CCA354156219CASRc.1430T>C (p.Ile477Thr)
c.1691T>C (p.Ile564Thr)
c.1661T>C (p.Ile554Thr)
c.1178T>C (p.Ile393Thr)
c.1073T>C (p.Ile358Thr)
 ClinVar dbSNP
3g.122282165T>GCA354156220CASRc.1430T>G (p.Ile477Ser)
c.1691T>G (p.Ile564Ser)
c.1661T>G (p.Ile554Ser)
c.1178T>G (p.Ile393Ser)
c.1073T>G (p.Ile358Ser)
3g.122282165T=CA1397885811CASRc.1430T= (p.Ile477=)
c.1691T= (p.Ile564=)
c.1661T= (p.Ile554=)
c.1178T= (p.Ile393=)
c.1073T= (p.Ile358=)
3g.122282166C>ACA435251511CASRc.1431C>A (p.Ile477=)
c.1692C>A (p.Ile564=)
c.1662C>A (p.Ile554=)
c.1179C>A (p.Ile393=)
c.1074C>A (p.Ile358=)
3g.122282166C=CA1397885812CASRc.1431C= (p.Ile477=)
c.1692C= (p.Ile564=)
c.1662C= (p.Ile554=)
c.1179C= (p.Ile393=)
c.1074C= (p.Ile358=)
3g.122282166C>GCA354156221CASRc.1431C>G (p.Ile477Met)
c.1692C>G (p.Ile564Met)
c.1662C>G (p.Ile554Met)
c.1179C>G (p.Ile393Met)
c.1074C>G (p.Ile358Met)
3g.122282166C>TCA82747980CASRc.1431C>T (p.Ile477=)
c.1692C>T (p.Ile564=)
c.1662C>T (p.Ile554=)
c.1179C>T (p.Ile393=)
c.1074C>T (p.Ile358=)
 ClinVar dbSNP
3g.122282167A=CA1397885813CASRc.1432A= (p.Ile478=)
c.1693A= (p.Ile565=)
c.1663A= (p.Ile555=)
c.1180A= (p.Ile394=)
c.1075A= (p.Ile359=)
3g.122282167A>CCA354156222CASRc.1432A>C (p.Ile478Leu)
c.1693A>C (p.Ile565Leu)
c.1663A>C (p.Ile555Leu)
c.1180A>C (p.Ile394Leu)
c.1075A>C (p.Ile359Leu)
3g.122282167A>GCA2569720CASRc.1432A>G (p.Ile478Val)
c.1693A>G (p.Ile565Val)
c.1663A>G (p.Ile555Val)
c.1180A>G (p.Ile394Val)
c.1075A>G (p.Ile359Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122282167A>TCA354156223CASRc.1432A>T (p.Ile478Phe)
c.1693A>T (p.Ile565Phe)
c.1663A>T (p.Ile555Phe)
c.1180A>T (p.Ile394Phe)
c.1075A>T (p.Ile359Phe)
3g.122282168T>ACA354156224CASRc.1433T>A (p.Ile478Asn)
c.1694T>A (p.Ile565Asn)
c.1664T>A (p.Ile555Asn)
c.1181T>A (p.Ile394Asn)
c.1076T>A (p.Ile359Asn)
3g.122282168T>CCA354156225CASRc.1433T>C (p.Ile478Thr)
c.1694T>C (p.Ile565Thr)
c.1664T>C (p.Ile555Thr)
c.1181T>C (p.Ile394Thr)
c.1076T>C (p.Ile359Thr)
 ClinVar dbSNP gnomAD v4
3g.122282168T>GCA354156226CASRc.1433T>G (p.Ile478Ser)
c.1694T>G (p.Ile565Ser)
c.1664T>G (p.Ile555Ser)
c.1181T>G (p.Ile394Ser)
c.1076T>G (p.Ile359Ser)
3g.122282168T=CA1397885814CASRc.1433T= (p.Ile478=)
c.1694T= (p.Ile565=)
c.1664T= (p.Ile555=)
c.1181T= (p.Ile394=)
c.1076T= (p.Ile359=)
3g.122282169T>ACA435251513CASRc.1434T>A (p.Ile478=)
c.1695T>A (p.Ile565=)
c.1665T>A (p.Ile555=)
c.1182T>A (p.Ile394=)
c.1077T>A (p.Ile359=)
3g.122282169T>CCA2569721CASRc.1434T>C (p.Ile478=)
c.1695T>C (p.Ile565=)
c.1665T>C (p.Ile555=)
c.1182T>C (p.Ile394=)
c.1077T>C (p.Ile359=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122282169T>GCA354156227CASRc.1434T>G (p.Ile478Met)
c.1695T>G (p.Ile565Met)
c.1665T>G (p.Ile555Met)
c.1182T>G (p.Ile394Met)
c.1077T>G (p.Ile359Met)
3g.122282169T=CA1397885815CASRc.1434T= (p.Ile478=)
c.1695T= (p.Ile565=)
c.1665T= (p.Ile555=)
c.1182T= (p.Ile394=)
c.1077T= (p.Ile359=)
3g.122282170G>ACA354156228CASRc.1435G>A (p.Glu479Lys)
c.1696G>A (p.Glu566Lys)
c.1666G>A (p.Glu556Lys)
c.1183G>A (p.Glu395Lys)
c.1078G>A (p.Glu360Lys)
3g.122282170G>CCA354156229CASRc.1435G>C (p.Glu479Gln)
c.1696G>C (p.Glu566Gln)
c.1666G>C (p.Glu556Gln)
c.1183G>C (p.Glu395Gln)
c.1078G>C (p.Glu360Gln)
3g.122282170G>TCA354156230CASRc.1435G>T (p.Glu479Ter)
c.1696G>T (p.Glu566Ter)
c.1666G>T (p.Glu556Ter)
c.1183G>T (p.Glu395Ter)
c.1078G>T (p.Glu360Ter)
3g.122282171A>CCA354156231CASRc.1436A>C (p.Glu479Ala)
c.1697A>C (p.Glu566Ala)
c.1667A>C (p.Glu556Ala)
c.1184A>C (p.Glu395Ala)
c.1079A>C (p.Glu360Ala)
 gnomAD v4
3g.122282171A>GCA354156232CASRc.1436A>G (p.Glu479Gly)
c.1697A>G (p.Glu566Gly)
c.1667A>G (p.Glu556Gly)
c.1184A>G (p.Glu395Gly)
c.1079A>G (p.Glu360Gly)
 ClinVar
3g.122282171A>TCA354156233CASRc.1436A>T (p.Glu479Val)
c.1697A>T (p.Glu566Val)
c.1667A>T (p.Glu556Val)
c.1184A>T (p.Glu395Val)
c.1079A>T (p.Glu360Val)
3g.122282172G>ACA216126CASRc.1437G>A (p.Glu479=)
c.1698G>A (p.Glu566=)
c.1668G>A (p.Glu556=)
c.1185G>A (p.Glu395=)
c.1080G>A (p.Glu360=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122282172G>CCA82747988CASRc.1437G>C (p.Glu479Asp)
c.1698G>C (p.Glu566Asp)
c.1668G>C (p.Glu556Asp)
c.1185G>C (p.Glu395Asp)
c.1080G>C (p.Glu360Asp)
 ClinVar dbSNP gnomAD v4
3g.122282172G=CA1397885816CASRc.1437G= (p.Glu479=)
c.1698G= (p.Glu566=)
c.1668G= (p.Glu556=)
c.1185G= (p.Glu395=)
c.1080G= (p.Glu360=)
3g.122282172G>TCA354156234CASRc.1437G>T (p.Glu479Asp)
c.1698G>T (p.Glu566Asp)
c.1668G>T (p.Glu556Asp)
c.1185G>T (p.Glu395Asp)
c.1080G>T (p.Glu360Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122282176dupCA916079843CASRc.1441dup (p.Glu481GlyfsTer7)
c.1702dup (p.Glu568GlyfsTer7)
c.1672dup (p.Glu558GlyfsTer7)
c.1189dup (p.Glu397GlyfsTer7)
c.1084dup (p.Glu362GlyfsTer7)
 ClinVar dbSNP
3g.122282173G>ACA354156235CASRc.1438G>A (p.Gly480Arg)
c.1699G>A (p.Gly567Arg)
c.1669G>A (p.Gly557Arg)
c.1186G>A (p.Gly396Arg)
c.1081G>A (p.Gly361Arg)
 ClinVar dbSNP
3g.122282173G>CCA354156236CASRc.1438G>C (p.Gly480Arg)
c.1699G>C (p.Gly567Arg)
c.1669G>C (p.Gly557Arg)
c.1186G>C (p.Gly396Arg)
c.1081G>C (p.Gly361Arg)
 gnomAD v4
3g.122282173G>TCA354156237CASRc.1438G>T (p.Gly480Trp)
c.1699G>T (p.Gly567Trp)
c.1669G>T (p.Gly557Trp)
c.1186G>T (p.Gly396Trp)
c.1081G>T (p.Gly361Trp)
 ClinVar
3g.122282174G>ACA354156238CASRc.1439G>A (p.Gly480Glu)
c.1700G>A (p.Gly567Glu)
c.1670G>A (p.Gly557Glu)
c.1187G>A (p.Gly396Glu)
c.1082G>A (p.Gly361Glu)
 ClinVar dbSNP
3g.122282174G>CCA354156239CASRc.1439G>C (p.Gly480Ala)
c.1700G>C (p.Gly567Ala)
c.1670G>C (p.Gly557Ala)
c.1187G>C (p.Gly396Ala)
c.1082G>C (p.Gly361Ala)
3g.122282174G=CA1397885817CASRc.1439G= (p.Gly480=)
c.1700G= (p.Gly567=)
c.1670G= (p.Gly557=)
c.1187G= (p.Gly396=)
c.1082G= (p.Gly361=)
3g.122282174G>TCA354156240CASRc.1439G>T (p.Gly480Val)
c.1700G>T (p.Gly567Val)
c.1670G>T (p.Gly557Val)
c.1187G>T (p.Gly396Val)
c.1082G>T (p.Gly361Val)
3g.122282174_122282175delinsAACA645532165CASRc.1439_1440delinsAA (p.Gly480Glu)
c.1700_1701delinsAA (p.Gly567Glu)
c.1670_1671delinsAA (p.Gly557Glu)
c.1187_1188delinsAA (p.Gly396Glu)
c.1082_1083delinsAA (p.Gly361Glu)
 COSMIC
3g.122282175G>ACA82747991CASRc.1440G>A (p.Gly480=)
c.1701G>A (p.Gly567=)
c.1671G>A (p.Gly557=)
c.1188G>A (p.Gly396=)
c.1083G>A (p.Gly361=)
 ClinVar dbSNP
3g.122282175G>CCA435251516CASRc.1440G>C (p.Gly480=)
c.1701G>C (p.Gly567=)
c.1671G>C (p.Gly557=)
c.1188G>C (p.Gly396=)
c.1083G>C (p.Gly361=)
3g.122282175G=CA1397885818CASRc.1440G= (p.Gly480=)
c.1701G= (p.Gly567=)
c.1671G= (p.Gly557=)
c.1188G= (p.Gly396=)
c.1083G= (p.Gly361=)
3g.122282175G>TCA435251517CASRc.1440G>T (p.Gly480=)
c.1701G>T (p.Gly567=)
c.1671G>T (p.Gly557=)
c.1188G>T (p.Gly396=)
c.1083G>T (p.Gly361=)
3g.122282176G>ACA354156241CASRc.1441G>A (p.Glu481Lys)
c.1702G>A (p.Glu568Lys)
c.1672G>A (p.Glu558Lys)
c.1189G>A (p.Glu397Lys)
c.1084G>A (p.Glu362Lys)
 gnomAD v4 COSMIC
3g.122282176G>CCA354156242CASRc.1441G>C (p.Glu481Gln)
c.1702G>C (p.Glu568Gln)
c.1672G>C (p.Glu558Gln)
c.1189G>C (p.Glu397Gln)
c.1084G>C (p.Glu362Gln)
3g.122282176G>TCA354156243CASRc.1441G>T (p.Glu481Ter)
c.1702G>T (p.Glu568Ter)
c.1672G>T (p.Glu558Ter)
c.1189G>T (p.Glu397Ter)
c.1084G>T (p.Glu362Ter)
 COSMIC
3g.122282177A=CA1397885819CASRc.1442A= (p.Glu481=)
c.1703A= (p.Glu568=)
c.1673A= (p.Glu558=)
c.1190A= (p.Glu397=)
c.1085A= (p.Glu362=)
3g.122282177A>CCA354156244CASRc.1442A>C (p.Glu481Ala)
c.1703A>C (p.Glu568Ala)
c.1673A>C (p.Glu558Ala)
c.1190A>C (p.Glu397Ala)
c.1085A>C (p.Glu362Ala)
3g.122282177A>GCA354156245CASRc.1442A>G (p.Glu481Gly)
c.1703A>G (p.Glu568Gly)
c.1673A>G (p.Glu558Gly)
c.1190A>G (p.Glu397Gly)
c.1085A>G (p.Glu362Gly)
 ClinVar dbSNP COSMIC
3g.122282177A>TCA354156246CASRc.1442A>T (p.Glu481Val)
c.1703A>T (p.Glu568Val)
c.1673A>T (p.Glu558Val)
c.1190A>T (p.Glu397Val)
c.1085A>T (p.Glu362Val)
3g.122282178_122282182delCA2580068632CASRc.1443_1447del (p.Glu481AspfsTer5)
c.1704_1708del (p.Glu568AspfsTer5)
c.1674_1678del (p.Glu558AspfsTer5)
c.1191_1195del (p.Glu397AspfsTer5)
c.1086_1090del (p.Glu362AspfsTer5)
 ClinVar
3g.122282178G>ACA435251521CASRc.1443G>A (p.Glu481=)
c.1704G>A (p.Glu568=)
c.1674G>A (p.Glu558=)
c.1191G>A (p.Glu397=)
c.1086G>A (p.Glu362=)
 COSMIC
3g.122282178G>CCA354156247CASRc.1443G>C (p.Glu481Asp)
c.1704G>C (p.Glu568Asp)
c.1674G>C (p.Glu558Asp)
c.1191G>C (p.Glu397Asp)
c.1086G>C (p.Glu362Asp)
3g.122282178G>TCA354156248CASRc.1443G>T (p.Glu481Asp)
c.1704G>T (p.Glu568Asp)
c.1674G>T (p.Glu558Asp)
c.1191G>T (p.Glu397Asp)
c.1086G>T (p.Glu362Asp)
3g.122282179C>ACA354156249CASRc.1444C>A (p.Pro482Thr)
c.1705C>A (p.Pro569Thr)
c.1675C>A (p.Pro559Thr)
c.1192C>A (p.Pro398Thr)
c.1087C>A (p.Pro363Thr)
3g.122282179C>GCA354156250CASRc.1444C>G (p.Pro482Ala)
c.1705C>G (p.Pro569Ala)
c.1675C>G (p.Pro559Ala)
c.1192C>G (p.Pro398Ala)
c.1087C>G (p.Pro363Ala)
 COSMIC
3g.122282179C>TCA354156251CASRc.1444C>T (p.Pro482Ser)
c.1705C>T (p.Pro569Ser)
c.1675C>T (p.Pro559Ser)
c.1192C>T (p.Pro398Ser)
c.1087C>T (p.Pro363Ser)
3g.122282180C>ACA213567CASRc.1445C>A (p.Pro482His)
c.1706C>A (p.Pro569His)
c.1676C>A (p.Pro559His)
c.1193C>A (p.Pro398His)
c.1088C>A (p.Pro363His)
 ClinVar dbSNP
3g.122282180C=CA1397885820CASRc.1445C= (p.Pro482=)
c.1706C= (p.Pro569=)
c.1676C= (p.Pro559=)
c.1193C= (p.Pro398=)
c.1088C= (p.Pro363=)
3g.122282180C>GCA354156252CASRc.1445C>G (p.Pro482Arg)
c.1706C>G (p.Pro569Arg)
c.1676C>G (p.Pro559Arg)
c.1193C>G (p.Pro398Arg)
c.1088C>G (p.Pro363Arg)
3g.122282180C>TCA2569722CASRc.1445C>T (p.Pro482Leu)
c.1706C>T (p.Pro569Leu)
c.1676C>T (p.Pro559Leu)
c.1193C>T (p.Pro398Leu)
c.1088C>T (p.Pro363Leu)
 dbSNP ExAC gnomAD v2
3g.122282181C>ACA435251525CASRc.1446C>A (p.Pro482=)
c.1707C>A (p.Pro569=)
c.1677C>A (p.Pro559=)
c.1194C>A (p.Pro398=)
c.1089C>A (p.Pro363=)
3g.122282181C=CA1397885821CASRc.1446C= (p.Pro482=)
c.1707C= (p.Pro569=)
c.1677C= (p.Pro559=)
c.1194C= (p.Pro398=)
c.1089C= (p.Pro363=)
3g.122282181C>GCA435251523CASRc.1446C>G (p.Pro482=)
c.1707C>G (p.Pro569=)
c.1677C>G (p.Pro559=)
c.1194C>G (p.Pro398=)
c.1089C>G (p.Pro363=)
3g.122282181C>TCA435251524CASRc.1446C>T (p.Pro482=)
c.1707C>T (p.Pro569=)
c.1677C>T (p.Pro559=)
c.1194C>T (p.Pro398=)
c.1089C>T (p.Pro363=)
 ClinVar dbSNP
3g.122282182A=CA1397885822CASRc.1447A= (p.Thr483=)
c.1708A= (p.Thr570=)
c.1678A= (p.Thr560=)
c.1195A= (p.Thr399=)
c.1090A= (p.Thr364=)
3g.122282182A>CCA2569723CASRc.1447A>C (p.Thr483Pro)
c.1708A>C (p.Thr570Pro)
c.1678A>C (p.Thr560Pro)
c.1195A>C (p.Thr399Pro)
c.1090A>C (p.Thr364Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122282182A>GCA354156254CASRc.1447A>G (p.Thr483Ala)
c.1708A>G (p.Thr570Ala)
c.1678A>G (p.Thr560Ala)
c.1195A>G (p.Thr399Ala)
c.1090A>G (p.Thr364Ala)
 dbSNP gnomAD v2 gnomAD v4
3g.122282182A>TCA354156253CASRc.1447A>T (p.Thr483Ser)
c.1708A>T (p.Thr570Ser)
c.1678A>T (p.Thr560Ser)
c.1195A>T (p.Thr399Ser)
c.1090A>T (p.Thr364Ser)
3g.122282183C>ACA354156255CASRc.1448C>A (p.Thr483Asn)
c.1709C>A (p.Thr570Asn)
c.1679C>A (p.Thr560Asn)
c.1196C>A (p.Thr399Asn)
c.1091C>A (p.Thr364Asn)
 ClinVar dbSNP
3g.122282183C=CA1397885823CASRc.1448C= (p.Thr483=)
c.1709C= (p.Thr570=)
c.1679C= (p.Thr560=)
c.1196C= (p.Thr399=)
c.1091C= (p.Thr364=)
3g.122282183C>GCA354156256CASRc.1448C>G (p.Thr483Ser)
c.1709C>G (p.Thr570Ser)
c.1679C>G (p.Thr560Ser)
c.1196C>G (p.Thr399Ser)
c.1091C>G (p.Thr364Ser)
3g.122282183C>TCA2569724CASRc.1448C>T (p.Thr483Ile)
c.1709C>T (p.Thr570Ile)
c.1679C>T (p.Thr560Ile)
c.1196C>T (p.Thr399Ile)
c.1091C>T (p.Thr364Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched