Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44351670_44351676dupCA2832528778GRNc.1054_1060dup (p.Leu354ProfsTer16)
c.495_501dup
c.583_589dup (p.Leu197ProfsTer16)
n.312_318dup
17g.44351675C>ACA399765596GRNc.1059C>A (p.Ser353Arg)
c.500C>A
c.588C>A (p.Ser196Arg)
n.317C>A
 gnomAD v4
17g.44351675C=CA2261354267GRNc.1059C= (p.Ser353=)
c.500C=
c.588C= (p.Ser196=)
n.317C=
17g.44351675C>GCA399765600GRNc.1059C>G (p.Ser353Arg)
c.500C>G
c.588C>G (p.Ser196Arg)
n.317C>G
 ClinVar dbSNP
17g.44351675C>TCA500622055GRNc.1059C>T (p.Ser353=)
c.500C>T
c.588C>T (p.Ser196=)
n.317C>T
 dbSNP gnomAD v2
17g.44351676C>ACA399765606GRNc.1060C>A (p.Leu354Met)
c.501C>A
c.589C>A (p.Leu197Met)
n.318C>A
17g.44351676C=CA2261354268GRNc.1060C= (p.Leu354=)
c.501C=
c.589C= (p.Leu197=)
n.318C=
17g.44351676C>GCA399765610GRNc.1060C>G (p.Leu354Val)
c.501C>G
c.589C>G (p.Leu197Val)
n.318C>G
 COSMIC
17g.44351676C>TCA8602094GRNc.1060C>T (p.Leu354=)
c.501C>T
c.589C>T (p.Leu197=)
n.318C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351677T>ACA399765619GRNc.1061T>A (p.Leu354Gln)
c.502T>A
c.590T>A (p.Leu197Gln)
n.319T>A
 gnomAD v4
17g.44351677T>CCA399765623GRNc.1061T>C (p.Leu354Pro)
c.502T>C
c.590T>C (p.Leu197Pro)
n.319T>C
17g.44351677T>GCA399765627GRNc.1061T>G (p.Leu354Arg)
c.502T>G
c.590T>G (p.Leu197Arg)
n.319T>G
17g.44351678G>ACA500622058GRNc.1062G>A (p.Leu354=)
c.503G>A
c.591G>A (p.Leu197=)
n.320G>A
17g.44351678G>CCA500622060GRNc.1062G>C (p.Leu354=)
c.503G>C
c.591G>C (p.Leu197=)
n.320G>C
17g.44351678G>TCA500622061GRNc.1062G>T (p.Leu354=)
c.503G>T
c.591G>T (p.Leu197=)
n.320G>T
17g.44351679C>ACA399765636GRNc.1063C>A (p.Pro355Thr)
c.504C>A
c.592C>A (p.Pro198Thr)
n.321C>A
17g.44351679C=CA2261354269GRNc.1063C= (p.Pro355=)
c.504C=
c.592C= (p.Pro198=)
n.321C=
17g.44351679C>GCA399765634GRNc.1063C>G (p.Pro355Ala)
c.504C>G
c.592C>G (p.Pro198Ala)
n.321C>G
17g.44351679C>TCA399765631GRNc.1063C>T (p.Pro355Ser)
c.504C>T
c.592C>T (p.Pro198Ser)
n.321C>T
 dbSNP
17g.44351679_44351680delCA2809588843GRNc.1063_1064del (p.Pro355ArgfsTer12)
c.504_505del
c.592_593del (p.Pro198ArgfsTer12)
n.321_322del
17g.44351680C>ACA399765642GRNc.1064C>A (p.Pro355Gln)
c.505C>A
c.593C>A (p.Pro198Gln)
n.322C>A
17g.44351680C>GCA399765646GRNc.1064C>G (p.Pro355Arg)
c.505C>G
c.593C>G (p.Pro198Arg)
n.322C>G
17g.44351680C>TCA399765647GRNc.1064C>T (p.Pro355Leu)
c.505C>T
c.593C>T (p.Pro198Leu)
n.322C>T
17g.44351681A>CCA500622062GRNc.1065A>C (p.Pro355=)
c.506A>C
c.594A>C (p.Pro198=)
n.323A>C
17g.44351681A>GCA500622063GRNc.1065A>G (p.Pro355=)
c.506A>G
c.594A>G (p.Pro198=)
n.323A>G
17g.44351681A>TCA500622064GRNc.1065A>T (p.Pro355=)
c.506A>T
c.594A>T (p.Pro198=)
n.323A>T
17g.44351682G>ACA399765654GRNc.1066G>A (p.Asp356Asn)
c.507G>A
c.595G>A (p.Asp199Asn)
n.324G>A
17g.44351682G>CCA399765657GRNc.1066G>C (p.Asp356His)
c.507G>C
c.595G>C (p.Asp199His)
n.324G>C
17g.44351682G>TCA399765660GRNc.1066G>T (p.Asp356Tyr)
c.507G>T
c.595G>T (p.Asp199Tyr)
n.324G>T
17g.44351683A=CA2261354270GRNc.1067A= (p.Asp356=)
c.508A=
c.596A= (p.Asp199=)
n.325A=
17g.44351683A>CCA399765667GRNc.1067A>C (p.Asp356Ala)
c.508A>C
c.596A>C (p.Asp199Ala)
n.325A>C
17g.44351683A>GCA399765670GRNc.1067A>G (p.Asp356Gly)
c.508A>G
c.596A>G (p.Asp199Gly)
n.325A>G
 dbSNP
17g.44351683A>TCA399765672GRNc.1067A>T (p.Asp356Val)
c.508A>T
c.596A>T (p.Asp199Val)
n.325A>T
17g.44351684C>ACA399765678GRNc.1068C>A (p.Asp356Glu)
c.509C>A
c.597C>A (p.Asp199Glu)
n.326C>A
17g.44351684C=CA2261354271GRNc.1068C= (p.Asp356=)
c.509C=
c.597C= (p.Asp199=)
n.326C=
17g.44351684C>GCA399765682GRNc.1068C>G (p.Asp356Glu)
c.509C>G
c.597C>G (p.Asp199Glu)
n.326C>G
17g.44351684C>TCA500622068GRNc.1068C>T (p.Asp356=)
c.509C>T
c.597C>T (p.Asp199=)
n.326C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44351686delCA2638209726GRNc.1070del (p.Pro357HisfsTer4)
c.511del
c.599del (p.Pro200HisfsTer4)
n.328del
 gnomAD v4
17g.44351685C>ACA399765692GRNc.1069C>A (p.Pro357Thr)
c.510C>A
c.598C>A (p.Pro200Thr)
n.327C>A
17g.44351685C=CA2261354272GRNc.1069C= (p.Pro357=)
c.510C=
c.598C= (p.Pro200=)
n.327C=
17g.44351685C>GCA399765691GRNc.1069C>G (p.Pro357Ala)
c.510C>G
c.598C>G (p.Pro200Ala)
n.327C>G
17g.44351685C>TCA399765687GRNc.1069C>T (p.Pro357Ser)
c.510C>T
c.598C>T (p.Pro200Ser)
n.327C>T
 dbSNP gnomAD v3 gnomAD v4
17g.44351686C>ACA399765693GRNc.1070C>A (p.Pro357Gln)
c.511C>A
c.599C>A (p.Pro200Gln)
n.328C>A
17g.44351686C=CA2261354273GRNc.1070C= (p.Pro357=)
c.511C=
c.599C= (p.Pro200=)
n.328C=
17g.44351686C>GCA399765694GRNc.1070C>G (p.Pro357Arg)
c.511C>G
c.599C>G (p.Pro200Arg)
n.328C>G
17g.44351686C>TCA399765695GRNc.1070C>T (p.Pro357Leu)
c.511C>T
c.599C>T (p.Pro200Leu)
n.328C>T
 dbSNP gnomAD v4
17g.44351687A=CA2261354274GRNc.1071A= (p.Pro357=)
c.512A=
c.600A= (p.Pro200=)
n.329A=
17g.44351687A>CCA8602095GRNc.1071A>C (p.Pro357=)
c.512A>C
c.600A>C (p.Pro200=)
n.329A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351687A>GCA500622069GRNc.1071A>G (p.Pro357=)
c.512A>G
c.600A>G (p.Pro200=)
n.329A>G
17g.44351687A>TCA500622070GRNc.1071A>T (p.Pro357=)
c.512A>T
c.600A>T (p.Pro200=)
n.329A>T
 ClinVar dbSNP gnomAD v4
17g.44351688C>ACA399765699GRNc.1072C>A (p.Gln358Lys)
c.513C>A
c.601C>A (p.Gln201Lys)
n.330C>A
17g.44351688C=CA2261354275GRNc.1072C= (p.Gln358=)
c.513C=
c.601C= (p.Gln201=)
n.330C=
17g.44351688C>GCA399765700GRNc.1072C>G (p.Gln358Glu)
c.513C>G
c.601C>G (p.Gln201Glu)
n.330C>G
 gnomAD v4
17g.44351688C>TCA399765702GRNc.1072C>T (p.Gln358Ter)
c.513C>T
c.601C>T (p.Gln201Ter)
n.330C>T
 ClinVar dbSNP gnomAD v4
17g.44351689A=CA2261354276GRNc.1073A= (p.Gln358=)
c.514A=
c.602A= (p.Gln201=)
n.331A=
17g.44351689A>CCA399765705GRNc.1073A>C (p.Gln358Pro)
c.514A>C
c.602A>C (p.Gln201Pro)
n.331A>C
17g.44351689A>GCA399765707GRNc.1073A>G (p.Gln358Arg)
c.514A>G
c.602A>G (p.Gln201Arg)
n.331A>G
 dbSNP gnomAD v4
17g.44351689A>TCA399765710GRNc.1073A>T (p.Gln358Leu)
c.514A>T
c.602A>T (p.Gln201Leu)
n.331A>T
17g.44351689_44351690dupCA891843550GRNc.1073_1074dup (p.Ala359LysfsTer3)
c.514_515dup
c.602_603dup (p.Ala202LysfsTer3)
n.331_332dup
 ClinVar dbSNP
17g.44351690A>CCA399765714GRNc.1074A>C (p.Gln358His)
c.515A>C
c.603A>C (p.Gln201His)
n.332A>C
17g.44351690A>GCA500622071GRNc.1074A>G (p.Gln358=)
c.515A>G
c.603A>G (p.Gln201=)
n.332A>G
17g.44351690A>TCA399765717GRNc.1074A>T (p.Gln358His)
c.515A>T
c.603A>T (p.Gln201His)
n.332A>T
17g.44351691G>ACA399765729GRNc.1075G>A (p.Ala359Thr)
c.516G>A
c.604G>A (p.Ala202Thr)
n.333G>A
 gnomAD v4
17g.44351691G>CCA399765726GRNc.1075G>C (p.Ala359Pro)
c.516G>C
c.604G>C (p.Ala202Pro)
n.333G>C
17g.44351691G>TCA399765722GRNc.1075G>T (p.Ala359Ser)
c.516G>T
c.604G>T (p.Ala202Ser)
n.333G>T
17g.44351692C>ACA399765734GRNc.1076C>A (p.Ala359Asp)
c.517C>A
c.605C>A (p.Ala202Asp)
n.334C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44351692C=CA2261354277GRNc.1076C= (p.Ala359=)
c.517C=
c.605C= (p.Ala202=)
n.334C=
17g.44351692C>GCA399765739GRNc.1076C>G (p.Ala359Gly)
c.517C>G
c.605C>G (p.Ala202Gly)
n.334C>G
 dbSNP gnomAD v3 gnomAD v4
17g.44351692C>TCA8602096GRNc.1076C>T (p.Ala359Val)
c.517C>T
c.605C>T (p.Ala202Val)
n.334C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351693C>ACA500622073GRNc.1077C>A (p.Ala359=)
c.518C>A
c.606C>A (p.Ala202=)
n.335C>A
17g.44351693C>GCA500622075GRNc.1077C>G (p.Ala359=)
c.518C>G
c.606C>G (p.Ala202=)
n.335C>G
17g.44351693C>TCA500622076GRNc.1077C>T (p.Ala359=)
c.518C>T
c.606C>T (p.Ala202=)
n.335C>T
17g.44351694T>ACA399765743GRNc.1078T>A (p.Leu360Met)
c.519T>A
c.607T>A (p.Leu203Met)
n.336T>A
17g.44351694T>CCA8602097GRNc.1078T>C (p.Leu360=)
c.519T>C
c.607T>C (p.Leu203=)
n.336T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351694T>GCA399765749GRNc.1078T>G (p.Leu360Val)
c.519T>G
c.607T>G (p.Leu203Val)
n.336T>G
 gnomAD v4
17g.44351694T=CA2261354278GRNc.1078T= (p.Leu360=)
c.519T=
c.607T= (p.Leu203=)
n.336T=
17g.44351695T>ACA399765753GRNc.1079T>A (p.Leu360Ter)
c.520T>A
c.608T>A (p.Leu203Ter)
n.337T>A
17g.44351695T>CCA399765756GRNc.1079T>C (p.Leu360Ser)
c.520T>C
c.608T>C (p.Leu203Ser)
n.337T>C
17g.44351695T>GCA399765759GRNc.1079T>G (p.Leu360Trp)
c.520T>G
c.608T>G (p.Leu203Trp)
n.337T>G
17g.44351696G>ACA500622077GRNc.1080G>A (p.Leu360=)
c.521G>A
c.609G>A (p.Leu203=)
n.338G>A
 dbSNP gnomAD v2 gnomAD v4
17g.44351696G>CCA399765765GRNc.1080G>C (p.Leu360Phe)
c.521G>C
c.609G>C (p.Leu203Phe)
n.338G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.44351696G=CA2261354279GRNc.1080G= (p.Leu360=)
c.521G=
c.609G= (p.Leu203=)
n.338G=
17g.44351696G>TCA399765770GRNc.1080G>T (p.Leu360Phe)
c.521G>T
c.609G>T (p.Leu203Phe)
n.338G>T
17g.44351697A=CA2261354281GRNc.1081A= (p.Lys361=)
c.522A=
c.610A= (p.Lys204=)
n.339A=
17g.44351697A>CCA399765773GRNc.1081A>C (p.Lys361Gln)
c.522A>C
c.610A>C (p.Lys204Gln)
n.339A>C
17g.44351697A>GCA399765775GRNc.1081A>G (p.Lys361Glu)
c.522A>G
c.610A>G (p.Lys204Glu)
n.339A>G
 dbSNP
17g.44351697A>TCA399765778GRNc.1081A>T (p.Lys361Ter)
c.522A>T
c.610A>T (p.Lys204Ter)
n.339A>T
17g.44351697_44351699delinsAAGCA2261354280GRNc.1081_1083delinsAAG (p.Lys361=)
c.522_524delinsAAG
c.610_612delinsAAG (p.Lys204=)
n.339_341delinsAAG
17g.44351698A>CCA399765791GRNc.1082A>C (p.Lys361Thr)
c.523A>C
c.611A>C (p.Lys204Thr)
n.340A>C
17g.44351698A>GCA399765786GRNc.1082A>G (p.Lys361Arg)
c.523A>G
c.611A>G (p.Lys204Arg)
n.340A>G
 gnomAD v4
17g.44351698A>TCA399765784GRNc.1082A>T (p.Lys361Met)
c.523A>T
c.611A>T (p.Lys204Met)
n.340A>T
17g.44351703_44351704delCA913191166GRNc.1087_1088del (p.Asp363CysfsTer4)
c.528_529del
c.616_617del (p.Asp206CysfsTer4)
n.345_346del
 ClinVar dbSNP gnomAD v4
17g.44351699G>ACA500622078GRNc.1083G>A (p.Lys361=)
c.524G>A
c.612G>A (p.Lys204=)
n.341G>A
17g.44351699G>CCA399765796GRNc.1083G>C (p.Lys361Asn)
c.524G>C
c.612G>C (p.Lys204Asn)
n.341G>C
 gnomAD v4
17g.44351699G=CA2261354282GRNc.1083G= (p.Lys361=)
c.524G=
c.612G= (p.Lys204=)
n.341G=
17g.44351699G>TCA399765800GRNc.1083G>T (p.Lys361Asn)
c.524G>T
c.612G>T (p.Lys204Asn)
n.341G>T
 dbSNP
17g.44351700A>CCA500622079GRNc.1084A>C (p.Arg362=)
c.525A>C
c.613A>C (p.Arg205=)
n.342A>C
17g.44351700A>GCA399765806GRNc.1084A>G (p.Arg362Gly)
c.525A>G
c.613A>G (p.Arg205Gly)
n.342A>G
17g.44351700A>TCA399765808GRNc.1084A>T (p.Arg362Ter)
c.525A>T
c.613A>T (p.Arg205Ter)
n.342A>T
17g.44351701G>ACA399765813GRNc.1085G>A (p.Arg362Lys)
c.526G>A
c.614G>A (p.Arg205Lys)
n.343G>A
17g.44351701G>CCA399765817GRNc.1085G>C (p.Arg362Thr)
c.526G>C
c.614G>C (p.Arg205Thr)
n.343G>C
17g.44351701G>TCA399765820GRNc.1085G>T (p.Arg362Ile)
c.526G>T
c.614G>T (p.Arg205Ile)
n.343G>T
17g.44351702A=CA2261354283GRNc.1086A= (p.Arg362=)
c.527A=
c.615A= (p.Arg205=)
n.344A=
17g.44351702A>CCA399765824GRNc.1086A>C (p.Arg362Ser)
c.527A>C
c.615A>C (p.Arg205Ser)
n.344A>C
 dbSNP
17g.44351702A>GCA500622080GRNc.1086A>G (p.Arg362=)
c.527A>G
c.615A>G (p.Arg205=)
n.344A>G
 gnomAD v4
17g.44351702A>TCA399765828GRNc.1086A>T (p.Arg362Ser)
c.527A>T
c.615A>T (p.Arg205Ser)
n.344A>T
17g.44351704_44351728delCA2576290524GRNc.1088_1112del (p.Asp363AlafsTer?)
c.529_553del
c.617_641del (p.Asp206AlafsTer?)
n.346_370del
17g.44351703G>ACA399765835GRNc.1087G>A (p.Asp363Asn)
c.528G>A
c.616G>A (p.Asp206Asn)
n.345G>A
17g.44351703G>CCA399765839GRNc.1087G>C (p.Asp363His)
c.528G>C
c.616G>C (p.Asp206His)
n.345G>C
17g.44351703G>TCA399765843GRNc.1087G>T (p.Asp363Tyr)
c.528G>T
c.616G>T (p.Asp206Tyr)
n.345G>T
17g.44351704A>CCA399765855GRNc.1088A>C (p.Asp363Ala)
c.529A>C
c.617A>C (p.Asp206Ala)
n.346A>C
17g.44351704A>GCA399765851GRNc.1088A>G (p.Asp363Gly)
c.529A>G
c.617A>G (p.Asp206Gly)
n.346A>G
 gnomAD v4
17g.44351704A>TCA399765847GRNc.1088A>T (p.Asp363Val)
c.529A>T
c.617A>T (p.Asp206Val)
n.346A>T
17g.44351705T>ACA399765858GRNc.1089T>A (p.Asp363Glu)
c.530T>A
c.618T>A (p.Asp206Glu)
n.347T>A
17g.44351705T>CCA500622082GRNc.1089T>C (p.Asp363=)
c.530T>C
c.618T>C (p.Asp206=)
n.347T>C
 dbSNP gnomAD v4
17g.44351705T>GCA399765871GRNc.1089T>G (p.Asp363Glu)
c.530T>G
c.618T>G (p.Asp206Glu)
n.347T>G
17g.44351705T=CA2261354284GRNc.1089T= (p.Asp363=)
c.530T=
c.618T= (p.Asp206=)
n.347T=
17g.44351706G>ACA399765874GRNc.1090G>A (p.Val364Ile)
c.531G>A
c.619G>A (p.Val207Ile)
n.348G>A
17g.44351706G>CCA399765876GRNc.1090G>C (p.Val364Leu)
c.531G>C
c.619G>C (p.Val207Leu)
n.348G>C
17g.44351706G>TCA399765881GRNc.1090G>T (p.Val364Phe)
c.531G>T
c.619G>T (p.Val207Phe)
n.348G>T
17g.44351707T>ACA399765885GRNc.1091T>A (p.Val364Asp)
c.532T>A
c.620T>A (p.Val207Asp)
n.349T>A
17g.44351707T>CCA399765888GRNc.1091T>C (p.Val364Ala)
c.532T>C
c.620T>C (p.Val207Ala)
n.349T>C
17g.44351707T>GCA399765892GRNc.1091T>G (p.Val364Gly)
c.532T>G
c.620T>G (p.Val207Gly)
n.349T>G
17g.44351708C>ACA500622085GRNc.1092C>A (p.Val364=)
c.533C>A
c.621C>A (p.Val207=)
n.350C>A
17g.44351708C=CA2261354285GRNc.1092C= (p.Val364=)
c.533C=
c.621C= (p.Val207=)
n.350C=
17g.44351708C>GCA500622087GRNc.1092C>G (p.Val364=)
c.533C>G
c.621C>G (p.Val207=)
n.350C>G
17g.44351708C>TCA8602098GRNc.1092C>T (p.Val364=)
c.533C>T
c.621C>T (p.Val207=)
n.350C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351709C>ACA399765901GRNc.1093C>A (p.Pro365Thr)
c.534C>A
c.622C>A (p.Pro208Thr)
n.351C>A
17g.44351709C>GCA399765908GRNc.1093C>G (p.Pro365Ala)
c.534C>G
c.622C>G (p.Pro208Ala)
n.351C>G
17g.44351709C>TCA399765910GRNc.1093C>T (p.Pro365Ser)
c.534C>T
c.622C>T (p.Pro208Ser)
n.351C>T
17g.44351710C>ACA399765917GRNc.1094C>A (p.Pro365His)
c.535C>A
c.623C>A (p.Pro208His)
n.352C>A
17g.44351710C>GCA399765914GRNc.1094C>G (p.Pro365Arg)
c.535C>G
c.623C>G (p.Pro208Arg)
n.352C>G
17g.44351710C>TCA399765912GRNc.1094C>T (p.Pro365Leu)
c.535C>T
c.623C>T (p.Pro208Leu)
n.352C>T
17g.44351710_44351712delinsCCTCA2261354286GRNc.1094_1096delinsCCT (p.Pro365=)
c.535_537delinsCCT
c.623_625delinsCCT (p.Pro208=)
n.352_354delinsCCT
17g.44351711C>ACA500622088GRNc.1095C>A (p.Pro365=)
c.536C>A
c.624C>A (p.Pro208=)
n.353C>A
17g.44351711C>GCA500622089GRNc.1095C>G (p.Pro365=)
c.536C>G
c.624C>G (p.Pro208=)
n.353C>G
17g.44351711C>TCA500622090GRNc.1095C>T (p.Pro365=)
c.536C>T
c.624C>T (p.Pro208=)
n.353C>T
 gnomAD v4
17g.44351711_44351712delCA225523GRNc.1095_1096del (p.Cys366Ter)
c.536_537del
c.624_625del (p.Cys209Ter)
n.353_354del
 ClinVar dbSNP gnomAD v4
17g.44351712T>ACA399765927GRNc.1096T>A (p.Cys366Ser)
c.537T>A
c.625T>A (p.Cys209Ser)
n.354T>A
17g.44351712T>CCA399765930GRNc.1096T>C (p.Cys366Arg)
c.537T>C
c.625T>C (p.Cys209Arg)
n.354T>C
17g.44351712T>GCA399765933GRNc.1096T>G (p.Cys366Gly)
c.537T>G
c.625T>G (p.Cys209Gly)
n.354T>G
17g.44351713G>ACA290926425GRNc.1097G>A (p.Cys366Tyr)
c.538G>A
c.626G>A (p.Cys209Tyr)
n.355G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.44351713G>CCA399765943GRNc.1097G>C (p.Cys366Ser)
c.538G>C
c.626G>C (p.Cys209Ser)
n.355G>C
17g.44351713G=CA2261354287GRNc.1097G= (p.Cys366=)
c.538G=
c.626G= (p.Cys209=)
n.355G=
17g.44351713G>TCA399765946GRNc.1097G>T (p.Cys366Phe)
c.538G>T
c.626G>T (p.Cys209Phe)
n.355G>T
 gnomAD v4
17g.44351714T>ACA399765950GRNc.1098T>A (p.Cys366Ter)
c.539T>A
c.627T>A (p.Cys209Ter)
n.356T>A
17g.44351714T>CCA500622091GRNc.1098T>C (p.Cys366=)
c.539T>C
c.627T>C (p.Cys209=)
n.356T>C
17g.44351714T>GCA399765956GRNc.1098T>G (p.Cys366Trp)
c.539T>G
c.627T>G (p.Cys209Trp)
n.356T>G
17g.44351715G>ACA399765960GRNc.1099G>A (p.Asp367Asn)
c.540G>A
c.628G>A (p.Asp210Asn)
n.357G>A
17g.44351715G>CCA399765963GRNc.1099G>C (p.Asp367His)
c.540G>C
c.628G>C (p.Asp210His)
n.357G>C
 gnomAD v4
17g.44351715G>TCA399765966GRNc.1099G>T (p.Asp367Tyr)
c.540G>T
c.628G>T (p.Asp210Tyr)
n.357G>T
17g.44351715_44351718delinsGATACA2261354288GRNc.1099_1102delinsGATA (p.Asp367=)
c.540_543delinsGATA
c.628_631delinsGATA (p.Asp210=)
n.357_360delinsGATA
17g.44351716A=CA2261354289GRNc.1100A= (p.Asp367=)
c.541A=
c.629A= (p.Asp210=)
n.358A=
17g.44351716A>CCA399765975GRNc.1100A>C (p.Asp367Ala)
c.541A>C
c.629A>C (p.Asp210Ala)
n.358A>C
17g.44351716A>GCA399765971GRNc.1100A>G (p.Asp367Gly)
c.541A>G
c.629A>G (p.Asp210Gly)
n.358A>G
17g.44351716A>TCA8602099GRNc.1100A>T (p.Asp367Val)
c.541A>T
c.629A>T (p.Asp210Val)
n.358A>T
 dbSNP ExAC gnomAD v2
17g.44351718_44351720delCA626224175GRNc.1102_1104del (p.Asn368del)
c.543_545del
c.631_633del (p.Asn211del)
n.360_362del
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.44351717T>ACA399765978GRNc.1101T>A (p.Asp367Glu)
c.542T>A
c.630T>A (p.Asp210Glu)
n.359T>A
17g.44351717T>CCA8602100GRNc.1101T>C (p.Asp367=)
c.542T>C
c.630T>C (p.Asp210=)
n.359T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351717T>GCA399765981GRNc.1101T>G (p.Asp367Glu)
c.542T>G
c.630T>G (p.Asp210Glu)
n.359T>G
17g.44351717T=CA2261354290GRNc.1101T= (p.Asp367=)
c.542T=
c.630T= (p.Asp210=)
n.359T=
17g.44351718A=CA2261354291GRNc.1102A= (p.Asn368=)
c.543A=
c.631A= (p.Asn211=)
n.360A=
17g.44351718A>CCA399765987GRNc.1102A>C (p.Asn368His)
c.543A>C
c.631A>C (p.Asn211His)
n.360A>C
17g.44351718A>GCA399765991GRNc.1102A>G (p.Asn368Asp)
c.543A>G
c.631A>G (p.Asn211Asp)
n.360A>G
 dbSNP
17g.44351718A>TCA399765994GRNc.1102A>T (p.Asn368Tyr)
c.543A>T
c.631A>T (p.Asn211Tyr)
n.360A>T
17g.44351719A=CA2261354292GRNc.1103A= (p.Asn368=)
c.544A=
c.632A= (p.Asn211=)
n.361A=
17g.44351719A>CCA399765997GRNc.1103A>C (p.Asn368Thr)
c.544A>C
c.632A>C (p.Asn211Thr)
n.361A>C
 dbSNP gnomAD v3 gnomAD v4
17g.44351719A>GCA399766000GRNc.1103A>G (p.Asn368Ser)
c.544A>G
c.632A>G (p.Asn211Ser)
n.361A>G
17g.44351719A>TCA399766003GRNc.1103A>T (p.Asn368Ile)
c.544A>T
c.632A>T (p.Asn211Ile)
n.361A>T
17g.44351720T>ACA399766008GRNc.1104T>A (p.Asn368Lys)
c.545T>A
c.633T>A (p.Asn211Lys)
n.362T>A
17g.44351720T>CCA500622095GRNc.1104T>C (p.Asn368=)
c.545T>C
c.633T>C (p.Asn211=)
n.362T>C
 dbSNP gnomAD v2 gnomAD v4
17g.44351720T>GCA399766007GRNc.1104T>G (p.Asn368Lys)
c.545T>G
c.633T>G (p.Asn211Lys)
n.362T>G
17g.44351720T=CA2261354293GRNc.1104T= (p.Asn368=)
c.545T=
c.633T= (p.Asn211=)
n.362T=
17g.44351721G>ACA399766012GRNc.1105G>A (p.Val369Ile)
c.546G>A
c.634G>A (p.Val212Ile)
n.363G>A
 gnomAD v4
17g.44351721G>CCA399766015GRNc.1105G>C (p.Val369Leu)
c.546G>C
c.634G>C (p.Val212Leu)
n.363G>C
17g.44351721G=CA2261354294GRNc.1105G= (p.Val369=)
c.546G=
c.634G= (p.Val212=)
n.363G=
17g.44351721G>TCA399766017GRNc.1105G>T (p.Val369Phe)
c.546G>T
c.634G>T (p.Val212Phe)
n.363G>T
 dbSNP gnomAD v2
17g.44351722T>ACA399766021GRNc.1106T>A (p.Val369Asp)
c.547T>A
c.635T>A (p.Val212Asp)
n.364T>A
17g.44351722T>CCA399766024GRNc.1106T>C (p.Val369Ala)
c.547T>C
c.635T>C (p.Val212Ala)
n.364T>C
17g.44351722T>GCA399766026GRNc.1106T>G (p.Val369Gly)
c.547T>G
c.635T>G (p.Val212Gly)
n.364T>G
17g.44351723C>ACA500622099GRNc.1107C>A (p.Val369=)
c.548C>A
c.636C>A (p.Val212=)
n.365C>A
17g.44351723C>GCA500622097GRNc.1107C>G (p.Val369=)
c.548C>G
c.636C>G (p.Val212=)
n.365C>G
17g.44351723C>TCA500622098GRNc.1107C>T (p.Val369=)
c.548C>T
c.636C>T (p.Val212=)
n.365C>T
17g.44351724A=CA2261354295GRNc.1108A= (p.Ser370=)
c.549A=
c.637A= (p.Ser213=)
n.366A=
17g.44351724A>CCA399766029GRNc.1108A>C (p.Ser370Arg)
c.549A>C
c.637A>C (p.Ser213Arg)
n.366A>C
17g.44351724A>GCA399766031GRNc.1108A>G (p.Ser370Gly)
c.549A>G
c.637A>G (p.Ser213Gly)
n.366A>G
17g.44351724A>TCA399766030GRNc.1108A>T (p.Ser370Cys)
c.549A>T
c.637A>T (p.Ser213Cys)
n.366A>T
 dbSNP gnomAD v3 gnomAD v4
17g.44351725G>ACA399766032GRNc.1109G>A (p.Ser370Asn)
c.550G>A
c.638G>A (p.Ser213Asn)
n.367G>A
17g.44351725G>CCA399766033GRNc.1109G>C (p.Ser370Thr)
c.550G>C
c.638G>C (p.Ser213Thr)
n.367G>C
17g.44351725G>TCA399766034GRNc.1109G>T (p.Ser370Ile)
c.550G>T
c.638G>T (p.Ser213Ile)
n.367G>T
17g.44351726C>ACA399766036GRNc.1110C>A (p.Ser370Arg)
c.551C>A
c.639C>A (p.Ser213Arg)
n.368C>A
17g.44351726C>GCA399766038GRNc.1110C>G (p.Ser370Arg)
c.551C>G
c.639C>G (p.Ser213Arg)
n.368C>G
17g.44351726C>TCA500622100GRNc.1110C>T (p.Ser370=)
c.551C>T
c.639C>T (p.Ser213=)
n.368C>T
 COSMIC
17g.44351727A>CCA399766041GRNc.1111A>C (p.Ser371Arg)
c.552A>C
c.640A>C (p.Ser214Arg)
n.369A>C
17g.44351727A>GCA399766044GRNc.1111A>G (p.Ser371Gly)
c.552A>G
c.640A>G (p.Ser214Gly)
n.369A>G
17g.44351727A>TCA399766045GRNc.1111A>T (p.Ser371Cys)
c.552A>T
c.640A>T (p.Ser214Cys)
n.369A>T
17g.44351727_44351729delinsAGCCA2261354296GRNc.1111_1113delinsAGC (p.Ser371=)
c.552_554delinsAGC
c.640_642delinsAGC (p.Ser214=)
n.369_371delinsAGC
17g.44351728G>ACA399766046GRNc.1112G>A (p.Ser371Asn)
c.553G>A
c.641G>A (p.Ser214Asn)
n.370G>A
 gnomAD v4
17g.44351728G>CCA8602101GRNc.1112G>C (p.Ser371Thr)
c.553G>C
c.641G>C (p.Ser214Thr)
n.370G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351728G=CA2261354297GRNc.1112G= (p.Ser371=)
c.553G=
c.641G= (p.Ser214=)
n.370G=
17g.44351728G>TCA399766050GRNc.1112G>T (p.Ser371Ile)
c.553G>T
c.641G>T (p.Ser214Ile)
n.370G>T
17g.44351728_44351729delCA626224176GRNc.1112_1113del (p.Ser371MetfsTer?)
c.1112_1113del (p.Ser371MetfsTer28)
c.553_554del
c.641_642del (p.Ser214MetfsTer?)
n.370_371del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44351729C>ACA399766053GRNc.1113C>A (p.Ser371Arg)
c.554C>A
c.642C>A (p.Ser214Arg)
n.371C>A
17g.44351729C>GCA399766055GRNc.1113C>G (p.Ser371Arg)
c.554C>G
c.642C>G (p.Ser214Arg)
n.371C>G
17g.44351729C>TCA500622101GRNc.1113C>T (p.Ser371=)
c.554C>T
c.642C>T (p.Ser214=)
n.371C>T
17g.44351730T>ACA399766058GRNc.1114T>A (p.Cys372Ser)
c.555T>A
c.643T>A (p.Cys215Ser)
n.372T>A
17g.44351730T>CCA399766060GRNc.1114T>C (p.Cys372Arg)
c.555T>C
c.643T>C (p.Cys215Arg)
n.372T>C
17g.44351730T>GCA399766072GRNc.1114T>G (p.Cys372Gly)
c.555T>G
c.643T>G (p.Cys215Gly)
n.372T>G
17g.44351730_44351731delinsTGCA2261354298GRNc.1114_1115delinsTG (p.Cys372=)
c.555_556delinsTG
c.643_644delinsTG (p.Cys215=)
n.372_373delinsTG
17g.44351731delCA626224177GRNc.1115del (p.Cys372PhefsTer?)
c.556del
c.644del (p.Cys215PhefsTer?)
n.373del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44351731G>ACA399766078GRNc.1115G>A (p.Cys372Tyr)
c.556G>A
c.644G>A (p.Cys215Tyr)
n.373G>A
 COSMIC
17g.44351731G>CCA399766081GRNc.1115G>C (p.Cys372Ser)
c.556G>C
c.644G>C (p.Cys215Ser)
n.373G>C
17g.44351731G>TCA399766084GRNc.1115G>T (p.Cys372Phe)
c.556G>T
c.644G>T (p.Cys215Phe)
n.373G>T
17g.44351732T>ACA399766088GRNc.1116T>A (p.Cys372Ter)
c.557T>A
c.645T>A (p.Cys215Ter)
n.374T>A
17g.44351732T>CCA500622102GRNc.1116T>C (p.Cys372=)
c.557T>C
c.645T>C (p.Cys215=)
n.374T>C
 dbSNP
17g.44351732T>GCA399766091GRNc.1116T>G (p.Cys372Trp)
c.557T>G
c.645T>G (p.Cys215Trp)
n.374T>G
17g.44351732T=CA2261354300GRNc.1116T= (p.Cys372=)
c.557T=
c.645T= (p.Cys215=)
n.374T=
17g.44351732_44351742delinsTCCCTCCTCCGCA2261354299GRNc.1116_1126delinsTCCCTCCTCCG (p.Cys372=)
c.557_567delinsTCCCTCCTCCG
c.645_655delinsTCCCTCCTCCG (p.Cys215=)
n.374_384delinsTCCCTCCTCCG
17g.44351733C>ACA8602102GRNc.1117C>A (p.Pro373Thr)
c.558C>A
c.646C>A (p.Pro216Thr)
n.375C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351733C=CA2261354301GRNc.1117C= (p.Pro373=)
c.558C=
c.646C= (p.Pro216=)
n.375C=
17g.44351733C>GCA399766101GRNc.1117C>G (p.Pro373Ala)
c.558C>G
c.646C>G (p.Pro216Ala)
n.375C>G
17g.44351733C>TCA290926429GRNc.1117C>T (p.Pro373Ser)
c.558C>T
c.646C>T (p.Pro216Ser)
n.375C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44351733_44351736delinsCCCTCA2261354302GRNc.1117_1120delinsCCCT (p.Pro373=)
c.558_561delinsCCCT
c.646_649delinsCCCT (p.Pro216=)
n.375_378delinsCCCT
17g.44351733_44351742delCA626224178GRNc.1117_1126del (p.Pro373IlefsTer?)
c.558_567del
c.646_655del (p.Pro216IlefsTer?)
n.375_384del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44351734C>ACA399766110GRNc.1118C>A (p.Pro373His)
c.559C>A
c.647C>A (p.Pro216His)
n.376C>A
17g.44351734C>GCA399766112GRNc.1118C>G (p.Pro373Arg)
c.559C>G
c.647C>G (p.Pro216Arg)
n.376C>G
17g.44351734C>TCA399766116GRNc.1118C>T (p.Pro373Leu)
c.559C>T
c.647C>T (p.Pro216Leu)
n.376C>T
17g.44351734_44351735delinsGCA2695226231GRNc.1118_1119delinsG (p.Pro373ArgfsTer?)
c.559_560delinsG
c.647_648delinsG (p.Pro216ArgfsTer?)
n.376_377delinsG
17g.44351739_44351741delCA8602103GRNc.1123_1125del (p.Ser375del)
c.564_566del
c.652_654del (p.Ser218del)
n.381_383del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351735C>ACA500622103GRNc.1119C>A (p.Pro373=)
c.560C>A
c.648C>A (p.Pro216=)
n.377C>A
17g.44351735C=CA2261354303GRNc.1119C= (p.Pro373=)
c.560C=
c.648C= (p.Pro216=)
n.377C=
17g.44351735C>GCA500622104GRNc.1119C>G (p.Pro373=)
c.560C>G
c.648C>G (p.Pro216=)
n.377C>G
 dbSNP gnomAD v2 gnomAD v4
17g.44351735C>TCA500622105GRNc.1119C>T (p.Pro373=)
c.560C>T
c.648C>T (p.Pro216=)
n.377C>T
17g.44351736T>ACA399766128GRNc.1120T>A (p.Ser374Thr)
c.561T>A
c.649T>A (p.Ser217Thr)
n.378T>A
17g.44351736T>CCA399766134GRNc.1120T>C (p.Ser374Pro)
c.561T>C
c.649T>C (p.Ser217Pro)
n.378T>C
17g.44351736T>GCA399766131GRNc.1120T>G (p.Ser374Ala)
c.561T>G
c.649T>G (p.Ser217Ala)
n.378T>G
 gnomAD v4
17g.44351737C>ACA399766138GRNc.1121C>A (p.Ser374Tyr)
c.562C>A
c.650C>A (p.Ser217Tyr)
n.379C>A
17g.44351737C>GCA399766141GRNc.1121C>G (p.Ser374Cys)
c.562C>G
c.650C>G (p.Ser217Cys)
n.379C>G
17g.44351737C>TCA399766145GRNc.1121C>T (p.Ser374Phe)
c.562C>T
c.650C>T (p.Ser217Phe)
n.379C>T
17g.44351738C>ACA500622106GRNc.1122C>A (p.Ser374=)
c.563C>A
c.651C>A (p.Ser217=)
n.380C>A
17g.44351738C>GCA500622107GRNc.1122C>G (p.Ser374=)
c.563C>G
c.651C>G (p.Ser217=)
n.380C>G
17g.44351738C>TCA500622108GRNc.1122C>T (p.Ser374=)
c.563C>T
c.651C>T (p.Ser217=)
n.380C>T
17g.44351739T>ACA399766149GRNc.1123T>A (p.Ser375Thr)
c.564T>A
c.652T>A (p.Ser218Thr)
n.381T>A
17g.44351739T>CCA399766153GRNc.1123T>C (p.Ser375Pro)
c.564T>C
c.652T>C (p.Ser218Pro)
n.381T>C
17g.44351739T>GCA399766157GRNc.1123T>G (p.Ser375Ala)
c.564T>G
c.652T>G (p.Ser218Ala)
n.381T>G
17g.44351740C>ACA399766161GRNc.1124C>A (p.Ser375Tyr)
c.565C>A
c.653C>A (p.Ser218Tyr)
n.382C>A
 dbSNP gnomAD v4
17g.44351740C=CA2261354304GRNc.1124C= (p.Ser375=)
c.565C=
c.653C= (p.Ser218=)
n.382C=
17g.44351740C>GCA399766163GRNc.1124C>G (p.Ser375Cys)
c.565C>G
c.653C>G (p.Ser218Cys)
n.382C>G
 ClinVar
17g.44351740C>TCA399766168GRNc.1124C>T (p.Ser375Phe)
c.565C>T
c.653C>T (p.Ser218Phe)
n.382C>T
17g.44351741C>ACA500622109GRNc.1125C>A (p.Ser375=)
c.566C>A
c.654C>A (p.Ser218=)
n.383C>A
17g.44351741C=CA2261354305GRNc.1125C= (p.Ser375=)
c.566C=
c.654C= (p.Ser218=)
n.383C=
17g.44351741C>GCA500622110GRNc.1125C>G (p.Ser375=)
c.566C>G
c.654C>G (p.Ser218=)
n.383C>G
17g.44351741C>TCA8602104GRNc.1125C>T (p.Ser375=)
c.566C>T
c.654C>T (p.Ser218=)
n.383C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351742G>ACA8602105GRNc.1126G>A (p.Asp376Asn)
c.567G>A
c.655G>A (p.Asp219Asn)
n.384G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351742G>CCA399766182GRNc.1126G>C (p.Asp376His)
c.567G>C
c.655G>C (p.Asp219His)
n.384G>C
17g.44351742G=CA2261354306GRNc.1126G= (p.Asp376=)
c.567G=
c.655G= (p.Asp219=)
n.384G=
17g.44351742G>TCA399766179GRNc.1126G>T (p.Asp376Tyr)
c.567G>T
c.655G>T (p.Asp219Tyr)
n.384G>T
17g.44351743A>CCA399766190GRNc.1127A>C (p.Asp376Ala)
c.568A>C
c.656A>C (p.Asp219Ala)
n.385A>C
17g.44351743A>GCA399766197GRNc.1127A>G (p.Asp376Gly)
c.568A>G
c.656A>G (p.Asp219Gly)
n.385A>G
17g.44351743A>TCA399766193GRNc.1127A>T (p.Asp376Val)
c.568A>T
c.656A>T (p.Asp219Val)
n.385A>T
17g.44351744T>ACA399766206GRNc.1128T>A (p.Asp376Glu)
c.569T>A
c.657T>A (p.Asp219Glu)
n.386T>A
17g.44351744T>CCA500622117GRNc.1128T>C (p.Asp376=)
c.569T>C
c.657T>C (p.Asp219=)
n.386T>C
17g.44351744T>GCA399766208GRNc.1128T>G (p.Asp376Glu)
c.569T>G
c.657T>G (p.Asp219Glu)
n.386T>G
17g.44351744_44351753delinsTACCTGCTGCCA2261354307GRNc.1128_1137delinsTACCTGCTGC (p.Asp376=)
c.1128_1136+1delinsTACCTGCTGC
c.569_578delinsTACCTGCTGC
c.657_666delinsTACCTGCTGC (p.Asp219=)
n.386_395delinsTACCTGCTGC
17g.44351745A=CA2261354308GRNc.1129A= (p.Thr377=)
c.570A=
c.658A= (p.Thr220=)
n.387A=
17g.44351745A>CCA399766211GRNc.1129A>C (p.Thr377Pro)
c.570A>C
c.658A>C (p.Thr220Pro)
n.387A>C
 dbSNP
17g.44351745A>GCA399766215GRNc.1129A>G (p.Thr377Ala)
c.570A>G
c.658A>G (p.Thr220Ala)
n.387A>G
17g.44351745A>TCA399766232GRNc.1129A>T (p.Thr377Ser)
c.570A>T
c.658A>T (p.Thr220Ser)
n.387A>T
17g.44351745_44351753delCA626224179GRNc.1129_1137del (p.Thr377_Cys379del)
c.1129_1136+1del
c.570_578del
c.658_666del (p.Thr220_Cys222del)
n.387_395del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44351746C>ACA290926436GRNc.1130C>A (p.Thr377Asn)
c.571C>A
c.659C>A (p.Thr220Asn)
n.388C>A
 dbSNP gnomAD v4
17g.44351746C=CA2261354309GRNc.1130C= (p.Thr377=)
c.571C=
c.659C= (p.Thr220=)
n.388C=
17g.44351746C>GCA399766244GRNc.1130C>G (p.Thr377Ser)
c.571C>G
c.659C>G (p.Thr220Ser)
n.388C>G
17g.44351746C>TCA399766246GRNc.1130C>T (p.Thr377Ile)
c.571C>T
c.659C>T (p.Thr220Ile)
n.388C>T
17g.44351746_44351747insACA2809588844GRNc.1130_1131insA (p.Cys378LeufsTer?)
c.1130_1131insA (p.Cys378LeufsTer22)
c.571_572insA
c.659_660insA (p.Cys221LeufsTer?)
n.388_389insA
17g.44351747C>ACA500622119GRNc.1131C>A (p.Thr377=)
c.572C>A
c.660C>A (p.Thr220=)
n.389C>A
 gnomAD v4
17g.44351747C=CA2261354310GRNc.1131C= (p.Thr377=)
c.572C=
c.660C= (p.Thr220=)
n.389C=
17g.44351747C>GCA290926438GRNc.1131C>G (p.Thr377=)
c.572C>G
c.660C>G (p.Thr220=)
n.389C>G
 dbSNP gnomAD v3 gnomAD v4
17g.44351747C>TCA500622118GRNc.1131C>T (p.Thr377=)
c.572C>T
c.660C>T (p.Thr220=)
n.389C>T
 gnomAD v4
17g.44351748T>ACA399766254GRNc.1132T>A (p.Cys378Ser)
c.573T>A
c.661T>A (p.Cys221Ser)
n.390T>A
17g.44351748T>CCA399766258GRNc.1132T>C (p.Cys378Arg)
c.573T>C
c.661T>C (p.Cys221Arg)
n.390T>C
 dbSNP gnomAD v4
17g.44351748T>GCA399766263GRNc.1132T>G (p.Cys378Gly)
c.573T>G
c.661T>G (p.Cys221Gly)
n.390T>G
17g.44351748T=CA2261354311GRNc.1132T= (p.Cys378=)
c.573T=
c.661T= (p.Cys221=)
n.390T=
17g.44351749G>ACA399766274GRNc.1133G>A (p.Cys378Tyr)
c.574G>A
c.662G>A (p.Cys221Tyr)
n.391G>A
 COSMIC
17g.44351749G>CCA399766272GRNc.1133G>C (p.Cys378Ser)
c.574G>C
c.662G>C (p.Cys221Ser)
n.391G>C
 gnomAD v4
17g.44351749G>TCA399766268GRNc.1133G>T (p.Cys378Phe)
c.574G>T
c.662G>T (p.Cys221Phe)
n.391G>T
17g.44351750C>ACA399766279GRNc.1134C>A (p.Cys378Ter)
c.575C>A
c.663C>A (p.Cys221Ter)
n.392C>A
17g.44351750C=CA2261354312GRNc.1134C= (p.Cys378=)
c.575C=
c.663C= (p.Cys221=)
n.392C=
17g.44351750C>GCA399766282GRNc.1134C>G (p.Cys378Trp)
c.575C>G
c.663C>G (p.Cys221Trp)
n.392C>G
17g.44351750C>TCA8602106GRNc.1134C>T (p.Cys378=)
c.575C>T
c.663C>T (p.Cys221=)
n.392C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351751T>ACA399766294GRNc.1135T>A (p.Cys379Ser)
c.576T>A
c.664T>A (p.Cys222Ser)
n.393T>A
17g.44351751T>CCA399766296GRNc.1135T>C (p.Cys379Arg)
c.576T>C
c.664T>C (p.Cys222Arg)
n.393T>C
17g.44351751T>GCA399766299GRNc.1135T>G (p.Cys379Gly)
c.576T>G
c.664T>G (p.Cys222Gly)
n.393T>G
17g.44351752G>ACA399766304GRNc.1136G>A (p.Cys379Tyr)
c.577G>A
c.665G>A (p.Cys222Tyr)
n.394G>A
 gnomAD v4
17g.44351752G>CCA399766308GRNc.1136G>C (p.Cys379Ser)
c.577G>C
c.665G>C (p.Cys222Ser)
n.394G>C
17g.44351752G>TCA399766311GRNc.1136G>T (p.Cys379Phe)
c.577G>T
c.665G>T (p.Cys222Phe)
n.394G>T
17g.44351753C>ACA399766316GRNc.1137C>A (p.Cys379Ter)
c.1136+1C>A (n.1136+1C>A)
c.578C>A
c.666C>A (p.Cys222Ter)
n.395C>A
 COSMIC
17g.44351753C>GCA399766323GRNc.1137C>G (p.Cys379Trp)
c.1136+1C>G (n.1136+1C>G)
c.578C>G
c.666C>G (p.Cys222Trp)
n.395C>G
17g.44351753C>TCA500622126GRNc.1137C>T (p.Cys379=)
c.1136+1C>T (n.1136+1C>T)
c.578C>T
c.666C>T (p.Cys222=)
n.395C>T
17g.44351754C>ACA399766334GRNc.1138C>A (p.Gln380Lys)
c.1136+2C>A (n.1136+2C>A)
c.579C>A
c.667C>A (p.Gln223Lys)
n.396C>A
17g.44351754C=CA2261354313GRNc.1138C= (p.Gln380=)
c.1136+2C= (n.1136+2C=)
c.579C=
c.667C= (p.Gln223=)
n.396C=
17g.44351754C>GCA8602107GRNc.1138C>G (p.Gln380Glu)
c.1136+2C>G (n.1136+2C>G)
c.579C>G
c.667C>G (p.Gln223Glu)
n.396C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351754C>TCA399766328GRNc.1138C>T (p.Gln380Ter)
c.1136+2C>T (n.1136+2C>T)
c.579C>T
c.667C>T (p.Gln223Ter)
n.396C>T
17g.44351755A=CA2261354315GRNc.1139A= (p.Gln380=)
c.1136+3A= (n.1136+3A=)
c.580A=
c.668A= (p.Gln223=)
n.397A=
17g.44351755A>CCA399766339GRNc.1139A>C (p.Gln380Pro)
c.1136+3A>C (n.1136+3A>C)
c.580A>C
c.668A>C (p.Gln223Pro)
n.397A>C
 dbSNP
17g.44351755A>GCA399766343GRNc.1139A>G (p.Gln380Arg)
c.1136+3A>G (n.1136+3A>G)
c.580A>G
c.668A>G (p.Gln223Arg)
n.397A>G
17g.44351755A>TCA399766346GRNc.1139A>T (p.Gln380Leu)
c.1136+3A>T (n.1136+3A>T)
c.580A>T
c.668A>T (p.Gln223Leu)
n.397A>T
17g.44351755_44351758delinsAACTCA2261354314GRNc.1139_1142delinsAACT (p.Gln380=)
c.1136+3_1136+6delinsAACT (n.1136+3_1136+6delinsAACT)
c.580_583delinsAACT
c.668_671delinsAACT (p.Gln223=)
n.397_400delinsAACT
17g.44351756A=CA2261354316GRNc.1140A= (p.Gln380=)
c.1136+4A= (n.1136+4A=)
c.581A=
c.669A= (p.Gln223=)
n.398A=
17g.44351756A>CCA399766349GRNc.1140A>C (p.Gln380His)
c.1136+4A>C (n.1136+4A>C)
c.581A>C
c.669A>C (p.Gln223His)
n.398A>C
17g.44351756A>GCA290926443GRNc.1140A>G (p.Gln380=)
c.1136+4A>G (n.1136+4A>G)
c.581A>G
c.669A>G (p.Gln223=)
n.398A>G
 dbSNP gnomAD v3 gnomAD v4
17g.44351756A>TCA399766351GRNc.1140A>T (p.Gln380His)
c.1136+4A>T (n.1136+4A>T)
c.581A>T
c.669A>T (p.Gln223His)
n.398A>T
17g.44351756_44351758delCA626224180GRNc.1140_1142del (p.Gln380_Leu381delinsHis)
c.1136+4_1136+6del (n.1136+4_1136+6del)
c.581_583del
c.669_671del (p.Gln223_Leu224delinsHis)
n.398_400del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44351757C>ACA399766365GRNc.1141C>A (p.Leu381Ile)
c.1136+5C>A (n.1136+5C>A)
c.582C>A
c.670C>A (p.Leu224Ile)
n.399C>A
 gnomAD v4
17g.44351757C>GCA399766361GRNc.1141C>G (p.Leu381Val)
c.1136+5C>G (n.1136+5C>G)
c.582C>G
c.670C>G (p.Leu224Val)
n.399C>G
17g.44351757C>TCA399766357GRNc.1141C>T (p.Leu381Phe)
c.1136+5C>T (n.1136+5C>T)
c.582C>T
c.670C>T (p.Leu224Phe)
n.399C>T
17g.44351758T>ACA399766369GRNc.1142T>A (p.Leu381His)
c.1136+6T>A (n.1136+6T>A)
c.583T>A
c.671T>A (p.Leu224His)
n.400T>A
17g.44351758T>CCA399766376GRNc.1142T>C (p.Leu381Pro)
c.1136+6T>C (n.1136+6T>C)
c.583T>C
c.671T>C (p.Leu224Pro)
n.400T>C
17g.44351758T>GCA399766378GRNc.1142T>G (p.Leu381Arg)
c.1136+6T>G (n.1136+6T>G)
c.583T>G
c.671T>G (p.Leu224Arg)
n.400T>G
17g.44351759C>ACA500622131GRNc.1143C>A (p.Leu381=)
c.1136+7C>A (n.1136+7C>A)
c.584C>A
c.672C>A (p.Leu224=)
n.401C>A
17g.44351759C=CA2261354317GRNc.1143C= (p.Leu381=)
c.1136+7C= (n.1136+7C=)
c.584C=
c.672C= (p.Leu224=)
n.401C=
17g.44351759C>GCA500622132GRNc.1143C>G (p.Leu381=)
c.1136+7C>G (n.1136+7C>G)
c.584C>G
c.672C>G (p.Leu224=)
n.401C>G
 gnomAD v4
17g.44351759C>TCA500622133GRNc.1143C>T (p.Leu381=)
c.1136+7C>T (n.1136+7C>T)
c.584C>T
c.672C>T (p.Leu224=)
n.401C>T
 gnomAD v4
17g.44351760A>CCA399766382GRNc.1144A>C (p.Thr382Pro)
c.1136+8A>C (n.1136+8A>C)
c.585A>C
c.673A>C (p.Thr225Pro)
n.402A>C
17g.44351760A>GCA399766385GRNc.1144A>G (p.Thr382Ala)
c.1136+8A>G (n.1136+8A>G)
c.585A>G
c.673A>G (p.Thr225Ala)
n.402A>G
17g.44351760A>TCA399766388GRNc.1144A>T (p.Thr382Ser)
c.1136+8A>T (n.1136+8A>T)
c.585A>T
c.673A>T (p.Thr225Ser)
n.402A>T
17g.44351760dupCA225311GRNc.1144dup (p.Thr382AsnfsTer?)
c.1136+8dup (n.1136+8dup)
c.585dup
c.673dup (p.Thr225AsnfsTer?)
n.402dup
 ClinVar dbSNP
17g.44351760_44351761delinsACCA2261354318GRNc.1144_1145delinsAC (p.Thr382=)
c.1136+8_1136+9delinsAC (n.1136+8_1136+9delinsAC)
c.585_586delinsAC
c.673_674delinsAC (p.Thr225=)
n.402_403delinsAC
17g.44351761delCA225312GRNc.1145del (p.Thr382SerfsTer30)
c.1136+9del (n.1136+9del)
c.586del
c.674del (p.Thr225SerfsTer30)
n.403del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44351761C>ACA399766393GRNc.1145C>A (p.Thr382Lys)
c.1136+9C>A (n.1136+9C>A)
c.586C>A
c.674C>A (p.Thr225Lys)
n.403C>A
17g.44351761C=CA2261354319GRNc.1145C= (p.Thr382=)
c.1136+9C= (n.1136+9C=)
c.586C=
c.674C= (p.Thr225=)
n.403C=
17g.44351761C>GCA399766406GRNc.1145C>G (p.Thr382Arg)
c.1136+9C>G (n.1136+9C>G)
c.586C>G
c.674C>G (p.Thr225Arg)
n.403C>G
 gnomAD v4
17g.44351761C>TCA8602108GRNc.1145C>T (p.Thr382Met)
c.1136+9C>T (n.1136+9C>T)
c.586C>T
c.674C>T (p.Thr225Met)
n.403C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351761_44351762insACA2695226232GRNc.1145_1146insA (p.Ser383ValfsTer?)
c.1136+9_1136+10insA (n.1136+9_1136+10insA)
c.586_587insA
c.674_675insA (p.Ser226ValfsTer?)
n.403_404insA
17g.44351762G>ACA8602109GRNc.1146G>A (p.Thr382=)
c.1136+10G>A (n.1136+10G>A)
c.587G>A
c.675G>A (p.Thr225=)
n.404G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44351762G>CCA500622136GRNc.1146G>C (p.Thr382=)
c.1136+10G>C (n.1136+10G>C)
c.587G>C
c.675G>C (p.Thr225=)
n.404G>C
17g.44351762G=CA2261354320GRNc.1146G= (p.Thr382=)
c.1136+10G= (n.1136+10G=)
c.587G=
c.675G= (p.Thr225=)
n.404G=
17g.44351762G>TCA500622137GRNc.1146G>T (p.Thr382=)
c.1136+10G>T (n.1136+10G>T)
c.587G>T
c.675G>T (p.Thr225=)
n.404G>T
 COSMIC
17g.44351763T>ACA399766416GRNc.1147T>A (p.Ser383Thr)
c.1136+11T>A (n.1136+11T>A)
c.588T>A
c.676T>A (p.Ser226Thr)
n.405T>A
17g.44351763T>CCA399766418GRNc.1147T>C (p.Ser383Pro)
c.1136+11T>C (n.1136+11T>C)
c.588T>C
c.676T>C (p.Ser226Pro)
n.405T>C
17g.44351763T>GCA399766421GRNc.1147T>G (p.Ser383Ala)
c.1136+11T>G (n.1136+11T>G)
c.588T>G
c.676T>G (p.Ser226Ala)
n.405T>G
17g.44351764C>ACA399766427GRNc.1148C>A (p.Ser383Tyr)
c.1136+12C>A (n.1136+12C>A)
c.589C>A
c.677C>A (p.Ser226Tyr)
n.406C>A
17g.44351764C=CA2261354321GRNc.1148C= (p.Ser383=)
c.1136+12C= (n.1136+12C=)
c.589C=
c.677C= (p.Ser226=)
n.406C=
17g.44351764C>GCA8602111GRNc.1148C>G (p.Ser383Cys)
c.1136+12C>G (n.1136+12C>G)
c.589C>G
c.677C>G (p.Ser226Cys)
n.406C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351764C>TCA8602110GRNc.1148C>T (p.Ser383Phe)
c.1136+12C>T (n.1136+12C>T)
c.589C>T
c.677C>T (p.Ser226Phe)
n.406C>T
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
17g.44351765T>ACA500622141GRNc.1149T>A (p.Ser383=)
c.1136+13T>A (n.1136+13T>A)
c.590T>A
c.678T>A (p.Ser226=)
n.407T>A
 ClinVar
17g.44351765T>CCA500622142GRNc.1149T>C (p.Ser383=)
c.1136+13T>C (n.1136+13T>C)
c.590T>C
c.678T>C (p.Ser226=)
n.407T>C
17g.44351765T>GCA500622143GRNc.1149T>G (p.Ser383=)
c.1136+13T>G (n.1136+13T>G)
c.590T>G
c.678T>G (p.Ser226=)
n.407T>G
17g.44351766G>ACA399766439GRNc.1150G>A (p.Gly384Arg)
c.1136+14G>A (n.1136+14G>A)
c.591G>A
c.679G>A (p.Gly227Arg)
n.408G>A
17g.44351766G>CCA399766442GRNc.1150G>C (p.Gly384Arg)
c.1136+14G>C (n.1136+14G>C)
c.591G>C
c.679G>C (p.Gly227Arg)
n.408G>C
17g.44351766G>TCA399766445GRNc.1150G>T (p.Gly384Trp)
c.1136+14G>T (n.1136+14G>T)
c.591G>T
c.679G>T (p.Gly227Trp)
n.408G>T
17g.44351769dupCA2638209897GRNc.1153dup (p.Glu385GlyfsTer29)
c.1136+17dup (n.1136+17dup)
c.594dup
c.682dup (p.Glu228GlyfsTer29)
n.411dup
 gnomAD v4
17g.44351769delCA2573153932GRNc.1153del (p.Glu385SerfsTer27)
c.1136+17del (n.1136+17del)
c.594del
c.682del (p.Glu228SerfsTer27)
n.411del
 ClinVar dbSNP
17g.44351767G>ACA399766456GRNc.1151G>A (p.Gly384Glu)
c.1136+15G>A (n.1136+15G>A)
c.592G>A
c.680G>A (p.Gly227Glu)
n.409G>A
17g.44351767G>CCA399766455GRNc.1151G>C (p.Gly384Ala)
c.1136+15G>C (n.1136+15G>C)
c.592G>C
c.680G>C (p.Gly227Ala)
n.409G>C
17g.44351767G>TCA399766450GRNc.1151G>T (p.Gly384Val)
c.1136+15G>T (n.1136+15G>T)
c.592G>T
c.680G>T (p.Gly227Val)
n.409G>T
17g.44351768G>ACA500622144GRNc.1152G>A (p.Gly384=)
c.1136+16G>A (n.1136+16G>A)
c.593G>A
c.681G>A (p.Gly227=)
n.410G>A
 ClinVar
17g.44351768G>CCA500622147GRNc.1152G>C (p.Gly384=)
c.1136+16G>C (n.1136+16G>C)
c.593G>C
c.681G>C (p.Gly227=)
n.410G>C
17g.44351768G>TCA500622145GRNc.1152G>T (p.Gly384=)
c.1136+16G>T (n.1136+16G>T)
c.593G>T
c.681G>T (p.Gly227=)
n.410G>T
 ClinVar dbSNP
17g.44351768_44351792delinsGGAGTGGGGCTGCTGTCCAATCCCACA2261354322GRNc.1152_1176delinsGGAGTGGGGCTGCTGTCCAATCCCA (p.Gly384=)
c.1136+16_1136+40delinsGGAGTGGGGCTGCTGTCCAATCCCA (n.1136+16_1136+40delinsGGAGTGGGGCTGCTGTCCAATCCCA)
c.593_617delinsGGAGTGGGGCTGCTGTCCAATCCCA
c.681_705delinsGGAGTGGGGCTGCTGTCCAATCCCA (p.Gly227=)
n.410_434delinsGGAGTGGGGCTGCTGTCCAATCCCA
17g.44351769G>ACA399766463GRNc.1153G>A (p.Glu385Lys)
c.1136+17G>A (n.1136+17G>A)
c.594G>A
c.682G>A (p.Glu228Lys)
n.411G>A
17g.44351769G>CCA399766461GRNc.1153G>C (p.Glu385Gln)
c.1136+17G>C (n.1136+17G>C)
c.594G>C
c.682G>C (p.Glu228Gln)
n.411G>C
17g.44351769G>TCA399766469GRNc.1153G>T (p.Glu385Ter)
c.1136+17G>T (n.1136+17G>T)
c.594G>T
c.682G>T (p.Glu228Ter)
n.411G>T
 ClinVar
17g.44351772_44351795delCA8602112GRNc.1156_1179del (p.Trp386_Glu393del)
c.1136+20_1136+43del (n.1136+20_1136+43del)
c.597_620del
c.685_708del (p.Trp229_Glu236del)
n.414_437del
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44351770A>CCA399766473GRNc.1154A>C (p.Glu385Ala)
c.1136+18A>C (n.1136+18A>C)
c.595A>C
c.683A>C (p.Glu228Ala)
n.412A>C
17g.44351770A>GCA399766478GRNc.1154A>G (p.Glu385Gly)
c.1136+18A>G (n.1136+18A>G)
c.595A>G
c.683A>G (p.Glu228Gly)
n.412A>G
17g.44351770A>TCA399766476GRNc.1154A>T (p.Glu385Val)
c.1136+18A>T (n.1136+18A>T)
c.595A>T
c.683A>T (p.Glu228Val)
n.412A>T
 gnomAD v4
17g.44351771G>ACA500622148GRNc.1155G>A (p.Glu385=)
c.1136+19G>A (n.1136+19G>A)
c.596G>A
c.684G>A (p.Glu228=)
n.413G>A
 gnomAD v4
17g.44351771G>CCA399766481GRNc.1155G>C (p.Glu385Asp)
c.1136+19G>C (n.1136+19G>C)
c.596G>C
c.684G>C (p.Glu228Asp)
n.413G>C
17g.44351771G>TCA399766483GRNc.1155G>T (p.Glu385Asp)
c.1136+19G>T (n.1136+19G>T)
c.596G>T
c.684G>T (p.Glu228Asp)
n.413G>T
17g.44351772T>ACA399766488GRNc.1156T>A (p.Trp386Arg)
c.1136+20T>A (n.1136+20T>A)
c.597T>A
c.685T>A (p.Trp229Arg)
n.414T>A
17g.44351772T>CCA399766490GRNc.1156T>C (p.Trp386Arg)
c.1136+20T>C (n.1136+20T>C)
c.597T>C
c.685T>C (p.Trp229Arg)
n.414T>C
17g.44351772T>GCA399766492GRNc.1156T>G (p.Trp386Gly)
c.1136+20T>G (n.1136+20T>G)
c.597T>G
c.685T>G (p.Trp229Gly)
n.414T>G
 dbSNP
17g.44351772T=CA2261354323GRNc.1156T= (p.Trp386=)
c.1136+20T= (n.1136+20T=)
c.597T=
c.685T= (p.Trp229=)
n.414T=
17g.44351773G>ACA225313GRNc.1157G>A (p.Trp386Ter)
c.1136+21G>A (n.1136+21G>A)
c.598G>A
c.686G>A (p.Trp229Ter)
n.415G>A
 ClinVar dbSNP
17g.44351773G>CCA399766499GRNc.1157G>C (p.Trp386Ser)
c.1136+21G>C (n.1136+21G>C)
c.598G>C
c.686G>C (p.Trp229Ser)
n.415G>C
 dbSNP gnomAD v4
17g.44351773G=CA2261354324GRNc.1157G= (p.Trp386=)
c.1136+21G= (n.1136+21G=)
c.598G=
c.686G= (p.Trp229=)
n.415G=
17g.44351773G>TCA399766496GRNc.1157G>T (p.Trp386Leu)
c.1136+21G>T (n.1136+21G>T)
c.598G>T
c.686G>T (p.Trp229Leu)
n.415G>T
17g.44351776dupCA2695226233GRNc.1160dup (p.Cys388LeufsTer26)
c.1136+24dup (n.1136+24dup)
c.601dup
c.689dup (p.Cys231LeufsTer26)
n.418dup
17g.44351776delCA2638209899GRNc.1160del (p.Gly387AlafsTer25)
c.1136+24del (n.1136+24del)
c.601del
c.689del (p.Gly230AlafsTer25)
n.418del
 gnomAD v4
17g.44351774G>ACA399766505GRNc.1158G>A (p.Trp386Ter)
c.1136+22G>A (n.1136+22G>A)
c.599G>A
c.687G>A (p.Trp229Ter)
n.416G>A
 ClinVar
17g.44351774G>CCA399766507GRNc.1158G>C (p.Trp386Cys)
c.1136+22G>C (n.1136+22G>C)
c.599G>C
c.687G>C (p.Trp229Cys)
n.416G>C
17g.44351774G=CA2261354325GRNc.1158G= (p.Trp386=)
c.1136+22G= (n.1136+22G=)
c.599G=
c.687G= (p.Trp229=)
n.416G=
17g.44351774G>TCA399766510GRNc.1158G>T (p.Trp386Cys)
c.1136+22G>T (n.1136+22G>T)
c.599G>T
c.687G>T (p.Trp229Cys)
n.416G>T
 dbSNP gnomAD v4
17g.44351775G>ACA399766515GRNc.1159G>A (p.Gly387Ser)
c.1136+23G>A (n.1136+23G>A)
c.600G>A
c.688G>A (p.Gly230Ser)
n.417G>A
17g.44351775G>CCA399766516GRNc.1159G>C (p.Gly387Arg)
c.1136+23G>C (n.1136+23G>C)
c.600G>C
c.688G>C (p.Gly230Arg)
n.417G>C
17g.44351775G>TCA399766518GRNc.1159G>T (p.Gly387Cys)
c.1136+23G>T (n.1136+23G>T)
c.600G>T
c.688G>T (p.Gly230Cys)
n.417G>T

Number of alleles fetched