Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.41474519C>ACA412992497NYXc.1051C>A (p.Arg351Ser)
c.1066C>A (p.Arg356Ser)
Xg.41474519C=CA2425928101NYXc.1051C= (p.Arg351=)
c.1066C= (p.Arg356=)
Xg.41474519C>GCA412992498NYXc.1051C>G (p.Arg351Gly)
c.1066C>G (p.Arg356Gly)
 dbSNP gnomAD v4
Xg.41474519C>TCA10389902NYXc.1051C>T (p.Arg351Cys)
c.1066C>T (p.Arg356Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474519_41474521delinsCGTCA2425928102NYXc.1051_1053delinsCGT (p.Arg351=)
c.1066_1068delinsCGT (p.Arg356=)
Xg.41474520G>ACA412992499NYXc.1052G>A (p.Arg351His)
c.1067G>A (p.Arg356His)
 gnomAD v4
Xg.41474520G>CCA412992500NYXc.1052G>C (p.Arg351Pro)
c.1067G>C (p.Arg356Pro)
Xg.41474520G>TCA412992501NYXc.1052G>T (p.Arg351Leu)
c.1067G>T (p.Arg356Leu)
Xg.41474522_41474523delCA915951044NYXc.1054_1055del (p.Val352HisfsTer?)
c.1069_1070del (p.Val357HisfsTer?)
 ClinVar dbSNP
Xg.41474521T>ACA516365885NYXc.1053T>A (p.Arg351=)
c.1068T>A (p.Arg356=)
Xg.41474521T>CCA516365886NYXc.1053T>C (p.Arg351=)
c.1068T>C (p.Arg356=)
Xg.41474521T>GCA516365887NYXc.1053T>G (p.Arg351=)
c.1068T>G (p.Arg356=)
Xg.41474522G>ACA412992502NYXc.1054G>A (p.Val352Ile)
c.1069G>A (p.Val357Ile)
 gnomAD v4
Xg.41474522G>CCA412992503NYXc.1054G>C (p.Val352Leu)
c.1069G>C (p.Val357Leu)
Xg.41474522G>TCA412992504NYXc.1054G>T (p.Val352Phe)
c.1069G>T (p.Val357Phe)
 gnomAD v4
Xg.41474523delCA2546103442NYXc.1055del (p.Val352AlafsTer20)
c.1070del (p.Val357AlafsTer20)
Xg.41474523T>ACA412992505NYXc.1055T>A (p.Val352Asp)
c.1070T>A (p.Val357Asp)
Xg.41474523T>CCA412992506NYXc.1055T>C (p.Val352Ala)
c.1070T>C (p.Val357Ala)
Xg.41474523T>GCA412992507NYXc.1055T>G (p.Val352Gly)
c.1070T>G (p.Val357Gly)
Xg.41474524C>ACA516365890NYXc.1056C>A (p.Val352=)
c.1071C>A (p.Val357=)
Xg.41474524C>GCA516365892NYXc.1056C>G (p.Val352=)
c.1071C>G (p.Val357=)
Xg.41474524C>TCA516365891NYXc.1056C>T (p.Val352=)
c.1071C>T (p.Val357=)
Xg.41474525A=CA2425928103NYXc.1057A= (p.Thr353=)
c.1072A= (p.Thr358=)
Xg.41474525A>CCA412992510NYXc.1057A>C (p.Thr353Pro)
c.1072A>C (p.Thr358Pro)
Xg.41474525A>GCA412992508NYXc.1057A>G (p.Thr353Ala)
c.1072A>G (p.Thr358Ala)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474525A>TCA412992509NYXc.1057A>T (p.Thr353Ser)
c.1072A>T (p.Thr358Ser)
Xg.41474525_41474526insGCA2545649389NYXc.1057_1058insG (p.Thr353SerfsTer?)
c.1072_1073insG (p.Thr358SerfsTer?)
Xg.41474526C>ACA412992512NYXc.1058C>A (p.Thr353Asn)
c.1073C>A (p.Thr358Asn)
Xg.41474526C=CA2425928104NYXc.1058C= (p.Thr353=)
c.1073C= (p.Thr358=)
Xg.41474526C>GCA412992514NYXc.1058C>G (p.Thr353Ser)
c.1073C>G (p.Thr358Ser)
 gnomAD v4
Xg.41474526C>TCA412992515NYXc.1058C>T (p.Thr353Ile)
c.1073C>T (p.Thr358Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474527C>ACA516365894NYXc.1059C>A (p.Thr353=)
c.1074C>A (p.Thr358=)
 gnomAD v4 COSMIC
Xg.41474527C=CA2425928105NYXc.1059C= (p.Thr353=)
c.1074C= (p.Thr358=)
Xg.41474527C>GCA516365895NYXc.1059C>G (p.Thr353=)
c.1074C>G (p.Thr358=)
Xg.41474527C>TCA10389903NYXc.1059C>T (p.Thr353=)
c.1074C>T (p.Thr358=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474528G>ACA412992518NYXc.1060G>A (p.Asp354Asn)
c.1075G>A (p.Asp359Asn)
 gnomAD v4
Xg.41474528G>CCA412992520NYXc.1060G>C (p.Asp354His)
c.1075G>C (p.Asp359His)
Xg.41474528G>TCA412992522NYXc.1060G>T (p.Asp354Tyr)
c.1075G>T (p.Asp359Tyr)
Xg.41474529A>CCA412992523NYXc.1061A>C (p.Asp354Ala)
c.1076A>C (p.Asp359Ala)
Xg.41474529A>GCA412992525NYXc.1061A>G (p.Asp354Gly)
c.1076A>G (p.Asp359Gly)
Xg.41474529A>TCA412992526NYXc.1061A>T (p.Asp354Val)
c.1076A>T (p.Asp359Val)
Xg.41474530C>ACA412992528NYXc.1062C>A (p.Asp354Glu)
c.1077C>A (p.Asp359Glu)
Xg.41474530C=CA2425928106NYXc.1062C= (p.Asp354=)
c.1077C= (p.Asp359=)
Xg.41474530C>GCA412992529NYXc.1062C>G (p.Asp354Glu)
c.1077C>G (p.Asp359Glu)
 dbSNP
Xg.41474530C>TCA516365897NYXc.1062C>T (p.Asp354=)
c.1077C>T (p.Asp359=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474531G>ACA10389904NYXc.1063G>A (p.Val355Met)
c.1078G>A (p.Val360Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474531G>CCA412992534NYXc.1063G>C (p.Val355Leu)
c.1078G>C (p.Val360Leu)
Xg.41474531G=CA2425928107NYXc.1063G= (p.Val355=)
c.1078G= (p.Val360=)
Xg.41474531G>TCA412992532NYXc.1063G>T (p.Val355Leu)
c.1078G>T (p.Val360Leu)
Xg.41474532T>ACA412992536NYXc.1064T>A (p.Val355Glu)
c.1079T>A (p.Val360Glu)
Xg.41474532T>CCA412992538NYXc.1064T>C (p.Val355Ala)
c.1079T>C (p.Val360Ala)
Xg.41474532T>GCA412992539NYXc.1064T>G (p.Val355Gly)
c.1079T>G (p.Val360Gly)
Xg.41474533G>ACA516365903NYXc.1065G>A (p.Val355=)
c.1080G>A (p.Val360=)
 gnomAD v4
Xg.41474533G>CCA516365901NYXc.1065G>C (p.Val355=)
c.1080G>C (p.Val360=)
Xg.41474533G>TCA516365902NYXc.1065G>T (p.Val355=)
c.1080G>T (p.Val360=)
Xg.41474534C>ACA412992542NYXc.1066C>A (p.Pro356Thr)
c.1081C>A (p.Pro361Thr)
Xg.41474534C>GCA412992543NYXc.1066C>G (p.Pro356Ala)
c.1081C>G (p.Pro361Ala)
Xg.41474534C>TCA412992545NYXc.1066C>T (p.Pro356Ser)
c.1081C>T (p.Pro361Ser)
 gnomAD v4 COSMIC
Xg.41474535C>ACA412992551NYXc.1067C>A (p.Pro356Gln)
c.1082C>A (p.Pro361Gln)
 gnomAD v4
Xg.41474535C>GCA412992547NYXc.1067C>G (p.Pro356Arg)
c.1082C>G (p.Pro361Arg)
Xg.41474535C>TCA412992549NYXc.1067C>T (p.Pro356Leu)
c.1082C>T (p.Pro361Leu)
 gnomAD v4
Xg.41474536G>ACA516365907NYXc.1068G>A (p.Pro356=)
c.1083G>A (p.Pro361=)
 gnomAD v4
Xg.41474536G>CCA516365908NYXc.1068G>C (p.Pro356=)
c.1083G>C (p.Pro361=)
Xg.41474536G>TCA516365909NYXc.1068G>T (p.Pro356=)
c.1083G>T (p.Pro361=)
 gnomAD v4
Xg.41474537T>ACA412992553NYXc.1069T>A (p.Cys357Ser)
c.1084T>A (p.Cys362Ser)
Xg.41474537T>CCA412992555NYXc.1069T>C (p.Cys357Arg)
c.1084T>C (p.Cys362Arg)
Xg.41474537T>GCA412992556NYXc.1069T>G (p.Cys357Gly)
c.1084T>G (p.Cys362Gly)
Xg.41474538G>ACA412992558NYXc.1070G>A (p.Cys357Tyr)
c.1085G>A (p.Cys362Tyr)
Xg.41474538G>CCA412992560NYXc.1070G>C (p.Cys357Ser)
c.1085G>C (p.Cys362Ser)
Xg.41474538G=CA2425928108NYXc.1070G= (p.Cys357=)
c.1085G= (p.Cys362=)
Xg.41474538G>TCA329217076NYXc.1070G>T (p.Cys357Phe)
c.1085G>T (p.Cys362Phe)
 dbSNP gnomAD v4 COSMIC
Xg.41474539delCA2695233446NYXc.1071del (p.Cys357TrpfsTer15)
c.1086del (p.Cys362TrpfsTer15)
Xg.41474539C>ACA412992563NYXc.1071C>A (p.Cys357Ter)
c.1086C>A (p.Cys362Ter)
 ClinVar
Xg.41474539C=CA2425928109NYXc.1071C= (p.Cys357=)
c.1086C= (p.Cys362=)
Xg.41474539C>GCA412992566NYXc.1071C>G (p.Cys357Trp)
c.1086C>G (p.Cys362Trp)
Xg.41474539C>TCA10389905NYXc.1071C>T (p.Cys357=)
c.1086C>T (p.Cys362=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474540G>ACA412992568NYXc.1072G>A (p.Ala358Thr)
c.1087G>A (p.Ala363Thr)
 gnomAD v4
Xg.41474540G>CCA412992570NYXc.1072G>C (p.Ala358Pro)
c.1087G>C (p.Ala363Pro)
Xg.41474540G=CA2425928110NYXc.1072G= (p.Ala358=)
c.1087G= (p.Ala363=)
Xg.41474540G>TCA412992572NYXc.1072G>T (p.Ala358Ser)
c.1087G>T (p.Ala363Ser)
 dbSNP gnomAD v4
Xg.41474541C>ACA412992574NYXc.1073C>A (p.Ala358Asp)
c.1088C>A (p.Ala363Asp)
Xg.41474541C=CA2425928111NYXc.1073C= (p.Ala358=)
c.1088C= (p.Ala363=)
Xg.41474541C>GCA412992576NYXc.1073C>G (p.Ala358Gly)
c.1088C>G (p.Ala363Gly)
 gnomAD v4
Xg.41474541C>TCA412992578NYXc.1073C>T (p.Ala358Val)
c.1088C>T (p.Ala363Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474542C>ACA516365915NYXc.1074C>A (p.Ala358=)
c.1089C>A (p.Ala363=)
 gnomAD v4
Xg.41474542C>GCA516365916NYXc.1074C>G (p.Ala358=)
c.1089C>G (p.Ala363=)
Xg.41474542C>TCA516365917NYXc.1074C>T (p.Ala358=)
c.1089C>T (p.Ala363=)
Xg.41474543T>ACA412992580NYXc.1075T>A (p.Ser359Thr)
c.1090T>A (p.Ser364Thr)
Xg.41474543T>CCA412992582NYXc.1075T>C (p.Ser359Pro)
c.1090T>C (p.Ser364Pro)
 gnomAD v4
Xg.41474543T>GCA412992583NYXc.1075T>G (p.Ser359Ala)
c.1090T>G (p.Ser364Ala)
Xg.41474544C>ACA10389906NYXc.1076C>A (p.Ser359Tyr)
c.1091C>A (p.Ser364Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474544C=CA2425928112NYXc.1076C= (p.Ser359=)
c.1091C= (p.Ser364=)
Xg.41474544C>GCA412992586NYXc.1076C>G (p.Ser359Cys)
c.1091C>G (p.Ser364Cys)
Xg.41474544C>TCA10389907NYXc.1076C>T (p.Ser359Phe)
c.1091C>T (p.Ser364Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474547delCA645612109NYXc.1079del (p.Pro360ArgfsTer12)
c.1094del (p.Pro365ArgfsTer12)
 gnomAD v4 COSMIC
Xg.41474545C>ACA516365921NYXc.1077C>A (p.Ser359=)
c.1092C>A (p.Ser364=)
Xg.41474545C=CA2425928113NYXc.1077C= (p.Ser359=)
c.1092C= (p.Ser364=)
Xg.41474545C>GCA516365922NYXc.1077C>G (p.Ser359=)
c.1092C>G (p.Ser364=)
Xg.41474545C>TCA516365924NYXc.1077C>T (p.Ser359=)
c.1092C>T (p.Ser364=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474546C>ACA412992589NYXc.1078C>A (p.Pro360Thr)
c.1093C>A (p.Pro365Thr)
 gnomAD v4
Xg.41474546C=CA2425928114NYXc.1078C= (p.Pro360=)
c.1093C= (p.Pro365=)
Xg.41474546C>GCA412992593NYXc.1078C>G (p.Pro360Ala)
c.1093C>G (p.Pro365Ala)
Xg.41474546C>TCA412992591NYXc.1078C>T (p.Pro360Ser)
c.1093C>T (p.Pro365Ser)
 ClinVar dbSNP
Xg.41474547C>ACA412992595NYXc.1079C>A (p.Pro360Gln)
c.1094C>A (p.Pro365Gln)
 gnomAD v4
Xg.41474547C>GCA412992597NYXc.1079C>G (p.Pro360Arg)
c.1094C>G (p.Pro365Arg)
 gnomAD v4
Xg.41474547C>TCA412992598NYXc.1079C>T (p.Pro360Leu)
c.1094C>T (p.Pro365Leu)
 gnomAD v4 COSMIC
Xg.41474548G>ACA329217077NYXc.1080G>A (p.Pro360=)
c.1095G>A (p.Pro365=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474548G>CCA516365932NYXc.1080G>C (p.Pro360=)
c.1095G>C (p.Pro365=)
Xg.41474548G=CA2425928115NYXc.1080G= (p.Pro360=)
c.1095G= (p.Pro365=)
Xg.41474548G>TCA516365933NYXc.1080G>T (p.Pro360=)
c.1095G>T (p.Pro365=)
 ClinVar gnomAD v4
Xg.41474549G>ACA412992599NYXc.1081G>A (p.Gly361Ser)
c.1096G>A (p.Gly366Ser)
Xg.41474549G>CCA329217078NYXc.1081G>C (p.Gly361Arg)
c.1096G>C (p.Gly366Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474549G=CA2425928116NYXc.1081G= (p.Gly361=)
c.1096G= (p.Gly366=)
Xg.41474549G>TCA412992602NYXc.1081G>T (p.Gly361Cys)
c.1096G>T (p.Gly366Cys)
 gnomAD v4
Xg.41474550G>ACA412992604NYXc.1082G>A (p.Gly361Asp)
c.1097G>A (p.Gly366Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474550G>CCA412992605NYXc.1082G>C (p.Gly361Ala)
c.1097G>C (p.Gly366Ala)
 dbSNP gnomAD v3 gnomAD v4
Xg.41474550G=CA2425928117NYXc.1082G= (p.Gly361=)
c.1097G= (p.Gly366=)
Xg.41474550G>TCA412992607NYXc.1082G>T (p.Gly361Val)
c.1097G>T (p.Gly366Val)
 gnomAD v4
Xg.41474551C>ACA516365938NYXc.1083C>A (p.Gly361=)
c.1098C>A (p.Gly366=)
Xg.41474551C=CA2425928118NYXc.1083C= (p.Gly361=)
c.1098C= (p.Gly366=)
Xg.41474551C>GCA516365940NYXc.1083C>G (p.Gly361=)
c.1098C>G (p.Gly366=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474551C>TCA516365941NYXc.1083C>T (p.Gly361=)
c.1098C>T (p.Gly366=)
 ClinVar
Xg.41474552T>ACA412992610NYXc.1084T>A (p.Ser362Thr)
c.1099T>A (p.Ser367Thr)
Xg.41474552T>CCA412992611NYXc.1084T>C (p.Ser362Pro)
c.1099T>C (p.Ser367Pro)
Xg.41474552T>GCA412992613NYXc.1084T>G (p.Ser362Ala)
c.1099T>G (p.Ser367Ala)
Xg.41474553C>ACA412992618NYXc.1085C>A (p.Ser362Tyr)
c.1100C>A (p.Ser367Tyr)
 gnomAD v4
Xg.41474553C>GCA412992617NYXc.1085C>G (p.Ser362Cys)
c.1100C>G (p.Ser367Cys)
Xg.41474553C>TCA412992615NYXc.1085C>T (p.Ser362Phe)
c.1100C>T (p.Ser367Phe)
Xg.41474554C>ACA516365946NYXc.1086C>A (p.Ser362=)
c.1101C>A (p.Ser367=)
 gnomAD v4
Xg.41474554C=CA2425928119NYXc.1086C= (p.Ser362=)
c.1101C= (p.Ser367=)
Xg.41474554C>GCA516365945NYXc.1086C>G (p.Ser362=)
c.1101C>G (p.Ser367=)
Xg.41474554C>TCA10389908NYXc.1086C>T (p.Ser362=)
c.1101C>T (p.Ser367=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474555G>ACA329217079NYXc.1087G>A (p.Val363Met)
c.1102G>A (p.Val368Met)
 dbSNP gnomAD v4
Xg.41474555G>CCA412992621NYXc.1087G>C (p.Val363Leu)
c.1102G>C (p.Val368Leu)
Xg.41474555G=CA2425928120NYXc.1087G= (p.Val363=)
c.1102G= (p.Val368=)
Xg.41474555G>TCA412992622NYXc.1087G>T (p.Val363Leu)
c.1102G>T (p.Val368Leu)
 gnomAD v4
Xg.41474556T>ACA412992624NYXc.1088T>A (p.Val363Glu)
c.1103T>A (p.Val368Glu)
 ClinVar
Xg.41474556T>CCA412992626NYXc.1088T>C (p.Val363Ala)
c.1103T>C (p.Val368Ala)
Xg.41474556T>GCA412992628NYXc.1088T>G (p.Val363Gly)
c.1103T>G (p.Val368Gly)
Xg.41474557G>ACA516365952NYXc.1089G>A (p.Val363=)
c.1104G>A (p.Val368=)
Xg.41474557G>CCA516365953NYXc.1089G>C (p.Val363=)
c.1104G>C (p.Val368=)
Xg.41474557G>TCA516365955NYXc.1089G>T (p.Val363=)
c.1104G>T (p.Val368=)
Xg.41474558G>ACA412992630NYXc.1090G>A (p.Ala364Thr)
c.1105G>A (p.Ala369Thr)
 gnomAD v4
Xg.41474558G>CCA412992632NYXc.1090G>C (p.Ala364Pro)
c.1105G>C (p.Ala369Pro)
Xg.41474558G>TCA412992633NYXc.1090G>T (p.Ala364Ser)
c.1105G>T (p.Ala369Ser)
Xg.41474559C>ACA412992636NYXc.1091C>A (p.Ala364Asp)
c.1106C>A (p.Ala369Asp)
 gnomAD v4
Xg.41474559C>GCA412992637NYXc.1091C>G (p.Ala364Gly)
c.1106C>G (p.Ala369Gly)
Xg.41474559C>TCA412992638NYXc.1091C>T (p.Ala364Val)
c.1106C>T (p.Ala369Val)
 gnomAD v4
Xg.41474560C>ACA516365958NYXc.1092C>A (p.Ala364=)
c.1107C>A (p.Ala369=)
Xg.41474560C=CA2425928121NYXc.1092C= (p.Ala364=)
c.1107C= (p.Ala369=)
Xg.41474560C>GCA516365961NYXc.1092C>G (p.Ala364=)
c.1107C>G (p.Ala369=)
Xg.41474560C>TCA516365959NYXc.1092C>T (p.Ala364=)
c.1107C>T (p.Ala369=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.41474561G>ACA412992643NYXc.1093G>A (p.Gly365Ser)
c.1108G>A (p.Gly370Ser)
 gnomAD v4 COSMIC
Xg.41474561G>CCA412992644NYXc.1093G>C (p.Gly365Arg)
c.1108G>C (p.Gly370Arg)
Xg.41474561G>TCA412992641NYXc.1093G>T (p.Gly365Cys)
c.1108G>T (p.Gly370Cys)
 gnomAD v4
Xg.41474562G>ACA412992646NYXc.1094G>A (p.Gly365Asp)
c.1109G>A (p.Gly370Asp)
 gnomAD v4
Xg.41474562G>CCA412992647NYXc.1094G>C (p.Gly365Ala)
c.1109G>C (p.Gly370Ala)
Xg.41474562G=CA2425928122NYXc.1094G= (p.Gly365=)
c.1109G= (p.Gly370=)
Xg.41474562G>TCA227938NYXc.1094G>T (p.Gly365Val)
c.1109G>T (p.Gly370Val)
 ClinVar dbSNP gnomAD v4
Xg.41474563C>ACA516365968NYXc.1095C>A (p.Gly365=)
c.1110C>A (p.Gly370=)
 gnomAD v4
Xg.41474563C=CA2425928123NYXc.1095C= (p.Gly365=)
c.1110C= (p.Gly370=)
Xg.41474563C>GCA516365966NYXc.1095C>G (p.Gly365=)
c.1110C>G (p.Gly370=)
Xg.41474563C>TCA516365964NYXc.1095C>T (p.Gly365=)
c.1110C>T (p.Gly370=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474564C>ACA412992650NYXc.1096C>A (p.Leu366Met)
c.1111C>A (p.Leu371Met)
 gnomAD v4
Xg.41474564C=CA2425928124NYXc.1096C= (p.Leu366=)
c.1111C= (p.Leu371=)
Xg.41474564C>GCA412992652NYXc.1096C>G (p.Leu366Val)
c.1111C>G (p.Leu371Val)
Xg.41474564C>TCA10389909NYXc.1096C>T (p.Leu366=)
c.1111C>T (p.Leu371=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474565T>ACA412992655NYXc.1097T>A (p.Leu366Gln)
c.1112T>A (p.Leu371Gln)
 gnomAD v4
Xg.41474565T>CCA412992656NYXc.1097T>C (p.Leu366Pro)
c.1112T>C (p.Leu371Pro)
 gnomAD v4
Xg.41474565T>GCA412992658NYXc.1097T>G (p.Leu366Arg)
c.1112T>G (p.Leu371Arg)
Xg.41474566G>ACA516365971NYXc.1098G>A (p.Leu366=)
c.1113G>A (p.Leu371=)
Xg.41474566G>CCA516365975NYXc.1098G>C (p.Leu366=)
c.1113G>C (p.Leu371=)
 gnomAD v4
Xg.41474566G>TCA516365972NYXc.1098G>T (p.Leu366=)
c.1113G>T (p.Leu371=)
 gnomAD v4
Xg.41474567G>ACA412992661NYXc.1099G>A (p.Asp367Asn)
c.1114G>A (p.Asp372Asn)
 gnomAD v4
Xg.41474567G>CCA412992662NYXc.1099G>C (p.Asp367His)
c.1114G>C (p.Asp372His)
Xg.41474567G>TCA412992663NYXc.1099G>T (p.Asp367Tyr)
c.1114G>T (p.Asp372Tyr)
 gnomAD v4
Xg.41474568A>CCA412992666NYXc.1100A>C (p.Asp367Ala)
c.1115A>C (p.Asp372Ala)
Xg.41474568A>GCA412992667NYXc.1100A>G (p.Asp367Gly)
c.1115A>G (p.Asp372Gly)
Xg.41474568A>TCA412992668NYXc.1100A>T (p.Asp367Val)
c.1115A>T (p.Asp372Val)
Xg.41474569C>ACA412992670NYXc.1101C>A (p.Asp367Glu)
c.1116C>A (p.Asp372Glu)
Xg.41474569C>GCA412992671NYXc.1101C>G (p.Asp367Glu)
c.1116C>G (p.Asp372Glu)
Xg.41474569C>TCA516365979NYXc.1101C>T (p.Asp367=)
c.1116C>T (p.Asp372=)
Xg.41474570C>ACA412992674NYXc.1102C>A (p.Leu368Ile)
c.1117C>A (p.Leu373Ile)
 gnomAD v4
Xg.41474570C>GCA412992676NYXc.1102C>G (p.Leu368Val)
c.1117C>G (p.Leu373Val)
Xg.41474570C>TCA412992686NYXc.1102C>T (p.Leu368Phe)
c.1117C>T (p.Leu373Phe)
Xg.41474571T>ACA412992688NYXc.1103T>A (p.Leu368His)
c.1118T>A (p.Leu373His)
Xg.41474571T>CCA412992690NYXc.1103T>C (p.Leu368Pro)
c.1118T>C (p.Leu373Pro)
 gnomAD v4
Xg.41474571T>GCA412992692NYXc.1103T>G (p.Leu368Arg)
c.1118T>G (p.Leu373Arg)
Xg.41474572C>ACA516365983NYXc.1104C>A (p.Leu368=)
c.1119C>A (p.Leu373=)
Xg.41474572C>GCA516365985NYXc.1104C>G (p.Leu368=)
c.1119C>G (p.Leu373=)
Xg.41474572C>TCA516365987NYXc.1104C>T (p.Leu368=)
c.1119C>T (p.Leu373=)
Xg.41474573A>CCA412992697NYXc.1105A>C (p.Ser369Arg)
c.1120A>C (p.Ser374Arg)
Xg.41474573A>GCA412992694NYXc.1105A>G (p.Ser369Gly)
c.1120A>G (p.Ser374Gly)
 gnomAD v4
Xg.41474573A>TCA412992696NYXc.1105A>T (p.Ser369Cys)
c.1120A>T (p.Ser374Cys)
Xg.41474575_41474910delCA2573050969NYXc.1107_*11del (n.[c.1107_*11del;Ser369ArgfsTer10])
c.1122_*11del (n.[c.1122_*11del;Ser374ArgfsTer10])
Xg.41474574G>ACA412992699NYXc.1106G>A (p.Ser369Asn)
c.1121G>A (p.Ser374Asn)
 gnomAD v4
Xg.41474574G>CCA412992700NYXc.1106G>C (p.Ser369Thr)
c.1121G>C (p.Ser374Thr)
Xg.41474574G>TCA412992702NYXc.1106G>T (p.Ser369Ile)
c.1121G>T (p.Ser374Ile)
 gnomAD v4
Xg.41474575C>ACA412992704NYXc.1107C>A (p.Ser369Arg)
c.1122C>A (p.Ser374Arg)
 gnomAD v4
Xg.41474575C=CA2425928125NYXc.1107C= (p.Ser369=)
c.1122C= (p.Ser374=)
Xg.41474575C>GCA412992705NYXc.1107C>G (p.Ser369Arg)
c.1122C>G (p.Ser374Arg)
Xg.41474575C>TCA516365994NYXc.1107C>T (p.Ser369=)
c.1122C>T (p.Ser374=)
 ClinVar dbSNP gnomAD v4
Xg.41474576C>ACA412992708NYXc.1108C>A (p.Gln370Lys)
c.1123C>A (p.Gln375Lys)
 gnomAD v4
Xg.41474576C=CA2425928126NYXc.1108C= (p.Gln370=)
c.1123C= (p.Gln375=)
Xg.41474576C>GCA412992711NYXc.1108C>G (p.Gln370Glu)
c.1123C>G (p.Gln375Glu)
Xg.41474576C>TCA412992709NYXc.1108C>T (p.Gln370Ter)
c.1123C>T (p.Gln375Ter)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474577A>CCA412992713NYXc.1109A>C (p.Gln370Pro)
c.1124A>C (p.Gln375Pro)
Xg.41474577A>GCA412992715NYXc.1109A>G (p.Gln370Arg)
c.1124A>G (p.Gln375Arg)
Xg.41474577A>TCA412992717NYXc.1109A>T (p.Gln370Leu)
c.1124A>T (p.Gln375Leu)
Xg.41474578G>ACA516365999NYXc.1110G>A (p.Gln370=)
c.1125G>A (p.Gln375=)
Xg.41474578G>CCA412992719NYXc.1110G>C (p.Gln370His)
c.1125G>C (p.Gln375His)
Xg.41474578G>TCA412992721NYXc.1110G>T (p.Gln370His)
c.1125G>T (p.Gln375His)
 gnomAD v4
Xg.41474579delCA2568781542NYXc.1111del (p.Val371Ter)
c.1126del (p.Val376Ter)
Xg.41474579G>ACA412992727NYXc.1111G>A (p.Val371Met)
c.1126G>A (p.Val376Met)
 gnomAD v4
Xg.41474579G>CCA412992725NYXc.1111G>C (p.Val371Leu)
c.1126G>C (p.Val376Leu)
Xg.41474579G>TCA412992723NYXc.1111G>T (p.Val371Leu)
c.1126G>T (p.Val376Leu)
 gnomAD v4
Xg.41474580T>ACA412992728NYXc.1112T>A (p.Val371Glu)
c.1127T>A (p.Val376Glu)
Xg.41474580T>CCA412992730NYXc.1112T>C (p.Val371Ala)
c.1127T>C (p.Val376Ala)
Xg.41474580T>GCA412992732NYXc.1112T>G (p.Val371Gly)
c.1127T>G (p.Val376Gly)
Xg.41474581G>ACA516366009NYXc.1113G>A (p.Val371=)
c.1128G>A (p.Val376=)
Xg.41474581G>CCA516366011NYXc.1113G>C (p.Val371=)
c.1128G>C (p.Val376=)
Xg.41474581G>TCA516366010NYXc.1113G>T (p.Val371=)
c.1128G>T (p.Val376=)
 gnomAD v4
Xg.41474582A>CCA412992734NYXc.1114A>C (p.Thr372Pro)
c.1129A>C (p.Thr377Pro)
Xg.41474582A>GCA412992736NYXc.1114A>G (p.Thr372Ala)
c.1129A>G (p.Thr377Ala)
Xg.41474582A>TCA412992738NYXc.1114A>T (p.Thr372Ser)
c.1129A>T (p.Thr377Ser)
Xg.41474583C>ACA412992740NYXc.1115C>A (p.Thr372Asn)
c.1130C>A (p.Thr377Asn)
 ClinVar
Xg.41474583C>GCA412992744NYXc.1115C>G (p.Thr372Ser)
c.1130C>G (p.Thr377Ser)
Xg.41474583C>TCA412992742NYXc.1115C>T (p.Thr372Ile)
c.1130C>T (p.Thr377Ile)
Xg.41474584C>ACA516366014NYXc.1116C>A (p.Thr372=)
c.1131C>A (p.Thr377=)
Xg.41474584C=CA2425928127NYXc.1116C= (p.Thr372=)
c.1131C= (p.Thr377=)
Xg.41474584C>GCA516366015NYXc.1116C>G (p.Thr372=)
c.1131C>G (p.Thr377=)
Xg.41474584C>TCA516366017NYXc.1116C>T (p.Thr372=)
c.1131C>T (p.Thr377=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474585T>ACA412992746NYXc.1117T>A (p.Phe373Ile)
c.1132T>A (p.Phe378Ile)
Xg.41474585T>CCA412992748NYXc.1117T>C (p.Phe373Leu)
c.1132T>C (p.Phe378Leu)
 dbSNP
Xg.41474585T>GCA412992750NYXc.1117T>G (p.Phe373Val)
c.1132T>G (p.Phe378Val)
Xg.41474586T>ACA412992752NYXc.1118T>A (p.Phe373Tyr)
c.1133T>A (p.Phe378Tyr)
Xg.41474586T>CCA412992754NYXc.1118T>C (p.Phe373Ser)
c.1133T>C (p.Phe378Ser)
Xg.41474586T>GCA412992755NYXc.1118T>G (p.Phe373Cys)
c.1133T>G (p.Phe378Cys)
 dbSNP
Xg.41474586T=CA2425928128NYXc.1118T= (p.Phe373=)
c.1133T= (p.Phe378=)
Xg.41474587C>ACA412992757NYXc.1119C>A (p.Phe373Leu)
c.1134C>A (p.Phe378Leu)
 gnomAD v4
Xg.41474587C=CA2425928129NYXc.1119C= (p.Phe373=)
c.1134C= (p.Phe378=)
Xg.41474587C>GCA412992759NYXc.1119C>G (p.Phe373Leu)
c.1134C>G (p.Phe378Leu)
Xg.41474587C>TCA516366024NYXc.1119C>T (p.Phe373=)
c.1134C>T (p.Phe378=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.41474588G>ACA412992762NYXc.1120G>A (p.Gly374Arg)
c.1135G>A (p.Gly379Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.41474588G>CCA412992763NYXc.1120G>C (p.Gly374Arg)
c.1135G>C (p.Gly379Arg)
Xg.41474588G=CA2425928130NYXc.1120G= (p.Gly374=)
c.1135G= (p.Gly379=)
Xg.41474588G>TCA412992764NYXc.1120G>T (p.Gly374Trp)
c.1135G>T (p.Gly379Trp)
 gnomAD v4
Xg.41474589G>ACA329217080NYXc.1121G>A (p.Gly374Glu)
c.1136G>A (p.Gly379Glu)
 dbSNP
Xg.41474589G>CCA412992767NYXc.1121G>C (p.Gly374Ala)
c.1136G>C (p.Gly379Ala)
Xg.41474589G=CA2425928131NYXc.1121G= (p.Gly374=)
c.1136G= (p.Gly379=)
Xg.41474589G>TCA412992768NYXc.1121G>T (p.Gly374Val)
c.1136G>T (p.Gly379Val)
 gnomAD v4
Xg.41474590G>ACA516366031NYXc.1122G>A (p.Gly374=)
c.1137G>A (p.Gly379=)
 gnomAD v4
Xg.41474590G>CCA516366032NYXc.1122G>C (p.Gly374=)
c.1137G>C (p.Gly379=)
Xg.41474590G>TCA516366034NYXc.1122G>T (p.Gly374=)
c.1137G>T (p.Gly379=)
Xg.41474591C>ACA412992772NYXc.1123C>A (p.Arg375Ser)
c.1138C>A (p.Arg380Ser)
Xg.41474591C=CA2425928132NYXc.1123C= (p.Arg375=)
c.1138C= (p.Arg380=)
Xg.41474591C>GCA412992775NYXc.1123C>G (p.Arg375Gly)
c.1138C>G (p.Arg380Gly)
Xg.41474591C>TCA412992773NYXc.1123C>T (p.Arg375Cys)
c.1138C>T (p.Arg380Cys)
 dbSNP gnomAD v4
Xg.41474592G>ACA10389910NYXc.1124G>A (p.Arg375His)
c.1139G>A (p.Arg380His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474592G>CCA412992778NYXc.1124G>C (p.Arg375Pro)
c.1139G>C (p.Arg380Pro)
Xg.41474592G=CA2425928133NYXc.1124G= (p.Arg375=)
c.1139G= (p.Arg380=)
Xg.41474592G>TCA412992779NYXc.1124G>T (p.Arg375Leu)
c.1139G>T (p.Arg380Leu)
 gnomAD v4
Xg.41474593C>ACA516366043NYXc.1125C>A (p.Arg375=)
c.1140C>A (p.Arg380=)
 gnomAD v4
Xg.41474593C>GCA516366045NYXc.1125C>G (p.Arg375=)
c.1140C>G (p.Arg380=)
Xg.41474593C>TCA516366046NYXc.1125C>T (p.Arg375=)
c.1140C>T (p.Arg380=)
Xg.41474594T>ACA412992782NYXc.1126T>A (p.Ser376Thr)
c.1141T>A (p.Ser381Thr)
Xg.41474594T>CCA10389911NYXc.1126T>C (p.Ser376Pro)
c.1141T>C (p.Ser381Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474594T>GCA412992784NYXc.1126T>G (p.Ser376Ala)
c.1141T>G (p.Ser381Ala)
Xg.41474594T=CA2425928134NYXc.1126T= (p.Ser376=)
c.1141T= (p.Ser381=)
Xg.41474595C>ACA412992787NYXc.1127C>A (p.Ser376Tyr)
c.1142C>A (p.Ser381Tyr)
Xg.41474595C>GCA412992788NYXc.1127C>G (p.Ser376Cys)
c.1142C>G (p.Ser381Cys)
Xg.41474595C>TCA412992789NYXc.1127C>T (p.Ser376Phe)
c.1142C>T (p.Ser381Phe)
 gnomAD v4
Xg.41474596C>ACA516366058NYXc.1128C>A (p.Ser376=)
c.1143C>A (p.Ser381=)
Xg.41474596C>GCA516366055NYXc.1128C>G (p.Ser376=)
c.1143C>G (p.Ser381=)
Xg.41474596C>TCA516366057NYXc.1128C>T (p.Ser376=)
c.1143C>T (p.Ser381=)
Xg.41474597T>ACA412992791NYXc.1129T>A (p.Ser377Thr)
c.1144T>A (p.Ser382Thr)
Xg.41474597T>CCA412992793NYXc.1129T>C (p.Ser377Pro)
c.1144T>C (p.Ser382Pro)
Xg.41474597T>GCA412992794NYXc.1129T>G (p.Ser377Ala)
c.1144T>G (p.Ser382Ala)
Xg.41474598C>ACA412992805NYXc.1130C>A (p.Ser377Tyr)
c.1145C>A (p.Ser382Tyr)
 gnomAD v4
Xg.41474598C=CA2425928135NYXc.1130C= (p.Ser377=)
c.1145C= (p.Ser382=)
Xg.41474598C>GCA412992797NYXc.1130C>G (p.Ser377Cys)
c.1145C>G (p.Ser382Cys)
 dbSNP
Xg.41474598C>TCA412992804NYXc.1130C>T (p.Ser377Phe)
c.1145C>T (p.Ser382Phe)
 COSMIC
Xg.41474599C>ACA516366063NYXc.1131C>A (p.Ser377=)
c.1146C>A (p.Ser382=)
 gnomAD v4
Xg.41474599C>GCA516366064NYXc.1131C>G (p.Ser377=)
c.1146C>G (p.Ser382=)
Xg.41474599C>TCA516366065NYXc.1131C>T (p.Ser377=)
c.1146C>T (p.Ser382=)
 gnomAD v4
Xg.41474600G>ACA10389912NYXc.1132G>A (p.Asp378Asn)
c.1147G>A (p.Asp383Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474600G>CCA412992808NYXc.1132G>C (p.Asp378His)
c.1147G>C (p.Asp383His)
 gnomAD v4
Xg.41474600G=CA2425928136NYXc.1132G= (p.Asp378=)
c.1147G= (p.Asp383=)
Xg.41474600G>TCA412992810NYXc.1132G>T (p.Asp378Tyr)
c.1147G>T (p.Asp383Tyr)
 gnomAD v4
Xg.41474601A>CCA412992812NYXc.1133A>C (p.Asp378Ala)
c.1148A>C (p.Asp383Ala)
 ClinVar
Xg.41474601A>GCA412992814NYXc.1133A>G (p.Asp378Gly)
c.1148A>G (p.Asp383Gly)
Xg.41474601A>TCA412992815NYXc.1133A>T (p.Asp378Val)
c.1148A>T (p.Asp383Val)
 gnomAD v4
Xg.41474602T>ACA412992818NYXc.1134T>A (p.Asp378Glu)
c.1149T>A (p.Asp383Glu)
Xg.41474602T>CCA516366066NYXc.1134T>C (p.Asp378=)
c.1149T>C (p.Asp383=)
 gnomAD v4
Xg.41474602T>GCA412992819NYXc.1134T>G (p.Asp378Glu)
c.1149T>G (p.Asp383Glu)
Xg.41474603G>ACA412992822NYXc.1135G>A (p.Gly379Ser)
c.1150G>A (p.Gly384Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474603G>CCA412992824NYXc.1135G>C (p.Gly379Arg)
c.1150G>C (p.Gly384Arg)
Xg.41474603G=CA2425928137NYXc.1135G= (p.Gly379=)
c.1150G= (p.Gly384=)
Xg.41474603G>TCA412992826NYXc.1135G>T (p.Gly379Cys)
c.1150G>T (p.Gly384Cys)
Xg.41474604G>ACA412992832NYXc.1136G>A (p.Gly379Asp)
c.1151G>A (p.Gly384Asp)
Xg.41474604G>CCA412992830NYXc.1136G>C (p.Gly379Ala)
c.1151G>C (p.Gly384Ala)
Xg.41474604G>TCA412992828NYXc.1136G>T (p.Gly379Val)
c.1151G>T (p.Gly384Val)
 gnomAD v4
Xg.41474605C>ACA516366071NYXc.1137C>A (p.Gly379=)
c.1152C>A (p.Gly384=)
Xg.41474605C=CA2425928138NYXc.1137C= (p.Gly379=)
c.1152C= (p.Gly384=)
Xg.41474605C>GCA516366072NYXc.1137C>G (p.Gly379=)
c.1152C>G (p.Gly384=)
Xg.41474605C>TCA10389913NYXc.1137C>T (p.Gly379=)
c.1152C>T (p.Gly384=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474606C>ACA412992835NYXc.1138C>A (p.Leu380Ile)
c.1153C>A (p.Leu385Ile)
Xg.41474606C>GCA412992837NYXc.1138C>G (p.Leu380Val)
c.1153C>G (p.Leu385Val)
 gnomAD v4
Xg.41474606C>TCA412992839NYXc.1138C>T (p.Leu380Phe)
c.1153C>T (p.Leu385Phe)
Xg.41474607T>ACA10389914NYXc.1139T>A (p.Leu380His)
c.1154T>A (p.Leu385His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474607T>CCA412992842NYXc.1139T>C (p.Leu380Pro)
c.1154T>C (p.Leu385Pro)
Xg.41474607T>GCA412992844NYXc.1139T>G (p.Leu380Arg)
c.1154T>G (p.Leu385Arg)
Xg.41474607T=CA2425928139NYXc.1139T= (p.Leu380=)
c.1154T= (p.Leu385=)
Xg.41474608C>ACA516366077NYXc.1140C>A (p.Leu380=)
c.1155C>A (p.Leu385=)
Xg.41474608C>GCA516366080NYXc.1140C>G (p.Leu380=)
c.1155C>G (p.Leu385=)
Xg.41474608C>TCA516366079NYXc.1140C>T (p.Leu380=)
c.1155C>T (p.Leu385=)
Xg.41474609T>ACA412992850NYXc.1141T>A (p.Cys381Ser)
c.1156T>A (p.Cys386Ser)
Xg.41474609T>CCA412992847NYXc.1141T>C (p.Cys381Arg)
c.1156T>C (p.Cys386Arg)
Xg.41474609T>GCA412992849NYXc.1141T>G (p.Cys381Gly)
c.1156T>G (p.Cys386Gly)
Xg.41474613_41474614delCA2579588842NYXc.1145_1146del (p.Val382GlyfsTer?)
c.1160_1161del (p.Val387GlyfsTer?)
Xg.41474610G>ACA412992852NYXc.1142G>A (p.Cys381Tyr)
c.1157G>A (p.Cys386Tyr)
 gnomAD v4
Xg.41474610G>CCA412992854NYXc.1142G>C (p.Cys381Ser)
c.1157G>C (p.Cys386Ser)
Xg.41474610G>TCA412992856NYXc.1142G>T (p.Cys381Phe)
c.1157G>T (p.Cys386Phe)
Xg.41474611T>ACA412992858NYXc.1143T>A (p.Cys381Ter)
c.1158T>A (p.Cys386Ter)
Xg.41474611T>CCA516366081NYXc.1143T>C (p.Cys381=)
c.1158T>C (p.Cys386=)
Xg.41474611T>GCA412992860NYXc.1143T>G (p.Cys381Trp)
c.1158T>G (p.Cys386Trp)
Xg.41474612G>ACA412992862NYXc.1144G>A (p.Val382Met)
c.1159G>A (p.Val387Met)
 dbSNP gnomAD v4
Xg.41474612G>CCA412992865NYXc.1144G>C (p.Val382Leu)
c.1159G>C (p.Val387Leu)
Xg.41474612G=CA2425928140NYXc.1144G= (p.Val382=)
c.1159G= (p.Val387=)
Xg.41474612G>TCA412992864NYXc.1144G>T (p.Val382Leu)
c.1159G>T (p.Val387Leu)
 gnomAD v4
Xg.41474613T>ACA412992867NYXc.1145T>A (p.Val382Glu)
c.1160T>A (p.Val387Glu)
Xg.41474613T>CCA412992868NYXc.1145T>C (p.Val382Ala)
c.1160T>C (p.Val387Ala)
Xg.41474613T>GCA412992869NYXc.1145T>G (p.Val382Gly)
c.1160T>G (p.Val387Gly)
Xg.41474614G>ACA516366084NYXc.1146G>A (p.Val382=)
c.1161G>A (p.Val387=)
 gnomAD v4
Xg.41474614G>CCA516366085NYXc.1146G>C (p.Val382=)
c.1161G>C (p.Val387=)
Xg.41474614G>TCA516366086NYXc.1146G>T (p.Val382=)
c.1161G>T (p.Val387=)
 gnomAD v4
Xg.41474615G>ACA329217081NYXc.1147G>A (p.Asp383Asn)
c.1162G>A (p.Asp388Asn)
 dbSNP gnomAD v4 COSMIC
Xg.41474615G>CCA412992873NYXc.1147G>C (p.Asp383His)
c.1162G>C (p.Asp388His)
 gnomAD v4
Xg.41474615G=CA2425928141NYXc.1147G= (p.Asp383=)
c.1162G= (p.Asp388=)
Xg.41474615G>TCA412992874NYXc.1147G>T (p.Asp383Tyr)
c.1162G>T (p.Asp388Tyr)
Xg.41474616A>CCA412992877NYXc.1148A>C (p.Asp383Ala)
c.1163A>C (p.Asp388Ala)
Xg.41474616A>GCA412992879NYXc.1148A>G (p.Asp383Gly)
c.1163A>G (p.Asp388Gly)
Xg.41474616A>TCA412992881NYXc.1148A>T (p.Asp383Val)
c.1163A>T (p.Asp388Val)
Xg.41474617C>ACA412992883NYXc.1149C>A (p.Asp383Glu)
c.1164C>A (p.Asp388Glu)
Xg.41474617C=CA2425928142NYXc.1149C= (p.Asp383=)
c.1164C= (p.Asp388=)
Xg.41474617C>GCA412992884NYXc.1149C>G (p.Asp383Glu)
c.1164C>G (p.Asp388Glu)
 gnomAD v4
Xg.41474617C>TCA516366089NYXc.1149C>T (p.Asp383=)
c.1164C>T (p.Asp388=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474618C>ACA412992888NYXc.1150C>A (p.Pro384Thr)
c.1165C>A (p.Pro389Thr)
 gnomAD v4
Xg.41474618C=CA2425928143NYXc.1150C= (p.Pro384=)
c.1165C= (p.Pro389=)
Xg.41474618C>GCA412992890NYXc.1150C>G (p.Pro384Ala)
c.1165C>G (p.Pro389Ala)
Xg.41474618C>TCA412992887NYXc.1150C>T (p.Pro384Ser)
c.1165C>T (p.Pro389Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.41474619C>ACA412992892NYXc.1151C>A (p.Pro384His)
c.1166C>A (p.Pro389His)
 gnomAD v4
Xg.41474619C>GCA412992896NYXc.1151C>G (p.Pro384Arg)
c.1166C>G (p.Pro389Arg)
Xg.41474619C>TCA412992894NYXc.1151C>T (p.Pro384Leu)
c.1166C>T (p.Pro389Leu)

Number of alleles fetched