Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.48688838_48688918delCA2693644735WASn.354_434del
c.1110_1190del (p.Pro371_Pro397del)
c.954_1034del (p.Pro319_Pro345del)
 gnomAD v4
Xg.48688838_48688927delCA2693644759WASn.354_443del
c.1110_1199del (p.Pro371_Pro400del)
c.954_1043del (p.Pro319_Pro348del)
 gnomAD v4
Xg.48688907_48688912dupCA2693644933WASn.423_428dup
c.1179_1184dup (p.Pro395_Pro396insProPro)
c.1023_1028dup (p.Pro343_Pro344insProPro)
 gnomAD v4
Xg.48688907_48688915dupCA2740092136WASn.423_431dup
c.1179_1187dup (p.Pro396_Pro397insProProPro)
c.1023_1031dup (p.Pro344_Pro345insProProPro)
 ClinVar
Xg.48688907_48688916delinsGCCACCACCACA2428355739WASn.423_432delinsGCCACCACCA
c.1179_1188delinsGCCACCACCA (p.Met393=)
c.1023_1032delinsGCCACCACCA (p.Met341=)
Xg.48688916_48688927dupCA2693644934WASn.432_443dup
c.1188_1199dup (p.Pro400_Pro401insProProProPro)
c.1032_1043dup (p.Pro348_Pro349insProProProPro)
 gnomAD v4
Xg.48688916_48688927delCA2695233784WASn.432_443del
c.1188_1199del (p.Pro397_Pro400del)
c.1032_1043del (p.Pro345_Pro348del)
Xg.48688910_48688918dupCA2428355744WASn.426_434dup
c.1182_1190dup (p.Pro397_Pro398insProProPro)
c.1026_1034dup (p.Pro345_Pro346insProProPro)
 dbSNP gnomAD v4
Xg.48688916_48688918delCA641901768WASn.432_434del
c.1188_1190del (p.Pro397del)
c.1032_1034del (p.Pro345del)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688910_48688918delCA2428355743WASn.426_434del
c.1182_1190del (p.Pro395_Pro397del)
c.1026_1034del (p.Pro343_Pro345del)
 dbSNP gnomAD v4
Xg.48688913_48688927delCA516356337WASn.429_443del
c.1185_1199del (p.Pro396_Pro400del)
c.1029_1043del (p.Pro344_Pro348del)
Xg.48688910_48688919delinsACCACCACCGCA2428355746WASn.426_435delinsACCACCACCG
c.1182_1191delinsACCACCACCG (p.Pro394=)
c.1026_1035delinsACCACCACCG (p.Pro342=)
Xg.48688911_48688918dupCA16043275WASn.427_434dup
c.1183_1190dup (p.Pro398HisfsTer?)
c.1027_1034dup (p.Pro346HisfsTer?)
 ClinVar dbSNP
Xg.48688925_48688933dupCA10404045WASn.441_449dup
c.1197_1205dup (p.Pro402_Pro403insProProPro)
c.1041_1049dup (p.Pro350_Pro351insProProPro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688925_48688933delCA342890WASn.441_449del
c.1197_1205del (p.Pro400_Pro402del)
c.1041_1049del (p.Pro348_Pro350del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688912C>ACA412873455WASn.428C>A
c.1184C>A (p.Pro395Gln)
c.1028C>A (p.Pro343Gln)
 gnomAD v4
Xg.48688912C>GCA412873456WASn.428C>G
c.1184C>G (p.Pro395Arg)
c.1028C>G (p.Pro343Arg)
Xg.48688912C>TCA412873457WASn.428C>T
c.1184C>T (p.Pro395Leu)
c.1028C>T (p.Pro343Leu)
 gnomAD v4
Xg.48688913delCA2738505179WASn.429del
c.1185del (p.Pro396HisfsTer?)
c.1029del (p.Pro344HisfsTer?)
 dbSNP
Xg.48688913A>CCA516356351WASn.429A>C
c.1185A>C (p.Pro395=)
c.1029A>C (p.Pro343=)
 dbSNP
Xg.48688913A>GCA516356352WASn.429A>G
c.1185A>G (p.Pro395=)
c.1029A>G (p.Pro343=)
Xg.48688913A>TCA516356353WASn.429A>T
c.1185A>T (p.Pro395=)
c.1029A>T (p.Pro343=)
 gnomAD v4
Xg.48688914C>ACA412873460WASn.430C>A
c.1186C>A (p.Pro396Thr)
c.1030C>A (p.Pro344Thr)
 gnomAD v4
Xg.48688914C>GCA412873458WASn.430C>G
c.1186C>G (p.Pro396Ala)
c.1030C>G (p.Pro344Ala)
Xg.48688914C>TCA412873459WASn.430C>T
c.1186C>T (p.Pro396Ser)
c.1030C>T (p.Pro344Ser)
 gnomAD v4
Xg.48688922_48688936delCA2693644960WASn.438_452del
c.1194_1208del (p.Pro399_Pro403del)
c.1038_1052del (p.Pro347_Pro351del)
 gnomAD v4
Xg.48688915C>ACA412873461WASn.431C>A
c.1187C>A (p.Pro396Gln)
c.1031C>A (p.Pro344Gln)
 ClinVar gnomAD v4
Xg.48688915C=CA2428355749WASn.431C=
c.1187C= (p.Pro396=)
c.1031C= (p.Pro344=)
Xg.48688915C>GCA412873462WASn.431C>G
c.1187C>G (p.Pro396Arg)
c.1031C>G (p.Pro344Arg)
Xg.48688915C>TCA412873463WASn.431C>T
c.1187C>T (p.Pro396Leu)
c.1031C>T (p.Pro344Leu)
 dbSNP gnomAD v2
Xg.48688916A=CA2428355750WASn.432A=
c.1188A= (p.Pro396=)
c.1032A= (p.Pro344=)
Xg.48688916A>CCA516356357WASn.432A>C
c.1188A>C (p.Pro396=)
c.1032A>C (p.Pro344=)
 ClinVar dbSNP
Xg.48688916A>GCA516356358WASn.432A>G
c.1188A>G (p.Pro396=)
c.1032A>G (p.Pro344=)
 gnomAD v4
Xg.48688916A>TCA516356359WASn.432A>T
c.1188A>T (p.Pro396=)
c.1032A>T (p.Pro344=)
Xg.48688917C>ACA412873464WASn.433C>A
c.1189C>A (p.Pro397Thr)
c.1033C>A (p.Pro345Thr)
 gnomAD v4
Xg.48688917C>GCA412873466WASn.433C>G
c.1189C>G (p.Pro397Ala)
c.1033C>G (p.Pro345Ala)
Xg.48688917C>TCA412873465WASn.433C>T
c.1189C>T (p.Pro397Ser)
c.1033C>T (p.Pro345Ser)
 gnomAD v4
Xg.48688918delCA2695233785WASn.434del
c.1190del (p.Pro397ArgfsTer?)
c.1034del (p.Pro345ArgfsTer?)
Xg.48688918C>ACA412873467WASn.434C>A
c.1190C>A (p.Pro397Gln)
c.1034C>A (p.Pro345Gln)
 gnomAD v4
Xg.48688918C=CA2428355751WASn.434C=
c.1190C= (p.Pro397=)
c.1034C= (p.Pro345=)
Xg.48688918C>GCA412873468WASn.434C>G
c.1190C>G (p.Pro397Arg)
c.1034C>G (p.Pro345Arg)
Xg.48688918C>TCA412873469WASn.434C>T
c.1190C>T (p.Pro397Leu)
c.1034C>T (p.Pro345Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688919G>ACA10404046WASn.435G>A
c.1191G>A (p.Pro397=)
c.1035G>A (p.Pro345=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688919G>CCA516356363WASn.435G>C
c.1191G>C (p.Pro397=)
c.1035G>C (p.Pro345=)
 ClinVar dbSNP gnomAD v4
Xg.48688919G=CA2428355752WASn.435G=
c.1191G= (p.Pro397=)
c.1035G= (p.Pro345=)
Xg.48688919G>TCA516356364WASn.435G>T
c.1191G>T (p.Pro397=)
c.1035G>T (p.Pro345=)
 gnomAD v4
Xg.48688920C>ACA412873470WASn.436C>A
c.1192C>A (p.Pro398Thr)
c.1036C>A (p.Pro346Thr)
 gnomAD v4
Xg.48688920C>GCA412873471WASn.436C>G
c.1192C>G (p.Pro398Ala)
c.1036C>G (p.Pro346Ala)
Xg.48688920C>TCA412873472WASn.436C>T
c.1192C>T (p.Pro398Ser)
c.1036C>T (p.Pro346Ser)
Xg.48688921C>ACA412873473WASn.437C>A
c.1193C>A (p.Pro398Gln)
c.1037C>A (p.Pro346Gln)
 gnomAD v4
Xg.48688921C>GCA412873474WASn.437C>G
c.1193C>G (p.Pro398Arg)
c.1037C>G (p.Pro346Arg)
Xg.48688921C>TCA412873475WASn.437C>T
c.1193C>T (p.Pro398Leu)
c.1037C>T (p.Pro346Leu)
Xg.48688922A=CA2428355753WASn.438A=
c.1194A= (p.Pro398=)
c.1038A= (p.Pro346=)
Xg.48688922A>CCA516356369WASn.438A>C
c.1194A>C (p.Pro398=)
c.1038A>C (p.Pro346=)
 dbSNP gnomAD v4
Xg.48688922A>GCA10404047WASn.438A>G
c.1194A>G (p.Pro398=)
c.1038A>G (p.Pro346=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688922A>TCA516356370WASn.438A>T
c.1194A>T (p.Pro398=)
c.1038A>T (p.Pro346=)
Xg.48688923C>ACA412873476WASn.439C>A
c.1195C>A (p.Pro399Thr)
c.1039C>A (p.Pro347Thr)
Xg.48688923C>GCA412873478WASn.439C>G
c.1195C>G (p.Pro399Ala)
c.1039C>G (p.Pro347Ala)
Xg.48688923C>TCA412873477WASn.439C>T
c.1195C>T (p.Pro399Ser)
c.1039C>T (p.Pro347Ser)
 gnomAD v4
Xg.48688931_48688936dupCA2693644986WASn.447_452dup
c.1203_1208dup (p.Pro403_Pro404insProPro)
c.1047_1052dup (p.Pro351_Pro352insProPro)
 gnomAD v4
Xg.48688931_48688936delCA2693644988WASn.447_452del
c.1203_1208del (p.Pro402_Pro403del)
c.1047_1052del (p.Pro350_Pro351del)
 gnomAD v4
Xg.48688924C>ACA412873479WASn.440C>A
c.1196C>A (p.Pro399Gln)
c.1040C>A (p.Pro347Gln)
Xg.48688924C=CA2428355754WASn.440C=
c.1196C= (p.Pro399=)
c.1040C= (p.Pro347=)
Xg.48688924C>GCA412873480WASn.440C>G
c.1196C>G (p.Pro399Arg)
c.1040C>G (p.Pro347Arg)
 ClinVar dbSNP
Xg.48688924C>TCA412873481WASn.440C>T
c.1196C>T (p.Pro399Leu)
c.1040C>T (p.Pro347Leu)
Xg.48688925A=CA2428355755WASn.441A=
c.1197A= (p.Pro399=)
c.1041A= (p.Pro347=)
Xg.48688925A>CCA516356374WASn.441A>C
c.1197A>C (p.Pro399=)
c.1041A>C (p.Pro347=)
 dbSNP gnomAD v3 gnomAD v4
Xg.48688925A>GCA516356375WASn.441A>G
c.1197A>G (p.Pro399=)
c.1041A>G (p.Pro347=)
 ClinVar dbSNP gnomAD v4
Xg.48688925A>TCA516356376WASn.441A>T
c.1197A>T (p.Pro399=)
c.1041A>T (p.Pro347=)
Xg.48688926C>ACA412873482WASn.442C>A
c.1198C>A (p.Pro400Thr)
c.1042C>A (p.Pro348Thr)
Xg.48688926C=CA2428355757WASn.442C=
c.1198C= (p.Pro400=)
c.1042C= (p.Pro348=)
Xg.48688926C>GCA412873483WASn.442C>G
c.1198C>G (p.Pro400Ala)
c.1042C>G (p.Pro348Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688926C>TCA412873484WASn.442C>T
c.1198C>T (p.Pro400Ser)
c.1042C>T (p.Pro348Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688931_48688939dupCA2428355756WASn.447_455dup
c.1203_1211dup (p.Pro404_Ser405insProProPro)
c.1047_1055dup (p.Pro352_Ser353insProProPro)
 ClinVar dbSNP gnomAD v4
Xg.48688927C>ACA412873485WASn.443C>A
c.1199C>A (p.Pro400Gln)
c.1043C>A (p.Pro348Gln)
Xg.48688927C=CA2428355758WASn.443C=
c.1199C= (p.Pro400=)
c.1043C= (p.Pro348=)
Xg.48688927C>GCA412873486WASn.443C>G
c.1199C>G (p.Pro400Arg)
c.1043C>G (p.Pro348Arg)
Xg.48688927C>TCA10404048WASn.443C>T
c.1199C>T (p.Pro400Leu)
c.1043C>T (p.Pro348Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688928G>ACA10404049WASn.444G>A
c.1200G>A (p.Pro400=)
c.1044G>A (p.Pro348=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688928G>CCA516356380WASn.444G>C
c.1200G>C (p.Pro400=)
c.1044G>C (p.Pro348=)
 dbSNP
Xg.48688928G=CA2428355759WASn.444G=
c.1200G= (p.Pro400=)
c.1044G= (p.Pro348=)
Xg.48688928G>TCA516356381WASn.444G>T
c.1200G>T (p.Pro400=)
c.1044G>T (p.Pro348=)
Xg.48688929C>ACA412873487WASn.445C>A
c.1201C>A (p.Pro401Thr)
c.1045C>A (p.Pro349Thr)
Xg.48688929C>GCA412873489WASn.445C>G
c.1201C>G (p.Pro401Ala)
c.1045C>G (p.Pro349Ala)
Xg.48688929C>TCA412873488WASn.445C>T
c.1201C>T (p.Pro401Ser)
c.1045C>T (p.Pro349Ser)
Xg.48688932_48688941delCA2695233786WASn.448_457del
c.1204_1213del (p.Pro402AlafsTer?)
c.1048_1057del (p.Pro350AlafsTer?)
Xg.48688930C>ACA412873490WASn.446C>A
c.1202C>A (p.Pro401Gln)
c.1046C>A (p.Pro349Gln)
 gnomAD v4
Xg.48688930C>GCA412873491WASn.446C>G
c.1202C>G (p.Pro401Arg)
c.1046C>G (p.Pro349Arg)
Xg.48688930C>TCA412873492WASn.446C>T
c.1202C>T (p.Pro401Leu)
c.1046C>T (p.Pro349Leu)
Xg.48688931delCA2580101064WASn.447del
c.1203del (p.Pro402ArgfsTer?)
c.1047del (p.Pro350ArgfsTer?)
 ClinVar
Xg.48688931A=CA2428355760WASn.447A=
c.1203A= (p.Pro401=)
c.1047A= (p.Pro349=)
Xg.48688931A>CCA516356384WASn.447A>C
c.1203A>C (p.Pro401=)
c.1047A>C (p.Pro349=)
 dbSNP
Xg.48688931A>GCA10404050WASn.447A>G
c.1203A>G (p.Pro401=)
c.1047A>G (p.Pro349=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688931A>TCA516356385WASn.447A>T
c.1203A>T (p.Pro401=)
c.1047A>T (p.Pro349=)
Xg.48688932C>ACA412873493WASn.448C>A
c.1204C>A (p.Pro402Thr)
c.1048C>A (p.Pro350Thr)
Xg.48688932C>GCA412873494WASn.448C>G
c.1204C>G (p.Pro402Ala)
c.1048C>G (p.Pro350Ala)
Xg.48688932C>TCA412873495WASn.448C>T
c.1204C>T (p.Pro402Ser)
c.1048C>T (p.Pro350Ser)
Xg.48688934_48688939dupCA2693645009WASn.450_455dup
c.1206_1211dup (p.Pro404_Ser405insProPro)
c.1050_1055dup (p.Pro352_Ser353insProPro)
 gnomAD v4
Xg.48688934_48688939delCA2579600725WASn.450_455del
c.1206_1211del (p.Pro403_Pro404del)
c.1050_1055del (p.Pro351_Pro352del)
Xg.48688933C>ACA412873496WASn.449C>A
c.1205C>A (p.Pro402Gln)
c.1049C>A (p.Pro350Gln)
Xg.48688933C=CA2428355761WASn.449C=
c.1205C= (p.Pro402=)
c.1049C= (p.Pro350=)
Xg.48688933C>GCA412873497WASn.449C>G
c.1205C>G (p.Pro402Arg)
c.1049C>G (p.Pro350Arg)
Xg.48688933C>TCA412873498WASn.449C>T
c.1205C>T (p.Pro402Leu)
c.1049C>T (p.Pro350Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48688934G>ACA516356389WASn.450G>A
c.1206G>A (p.Pro402=)
c.1050G>A (p.Pro350=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688934G>CCA516356390WASn.450G>C
c.1206G>C (p.Pro402=)
c.1050G>C (p.Pro350=)
 dbSNP
Xg.48688934G=CA2428355762WASn.450G=
c.1206G= (p.Pro402=)
c.1050G= (p.Pro350=)
Xg.48688934G>TCA516356391WASn.450G>T
c.1206G>T (p.Pro402=)
c.1050G>T (p.Pro350=)
Xg.48688935C>ACA412873499WASn.451C>A
c.1207C>A (p.Pro403Thr)
c.1051C>A (p.Pro351Thr)
 gnomAD v4
Xg.48688935C>GCA412873500WASn.451C>G
c.1207C>G (p.Pro403Ala)
c.1051C>G (p.Pro351Ala)
Xg.48688935C>TCA412873501WASn.451C>T
c.1207C>T (p.Pro403Ser)
c.1051C>T (p.Pro351Ser)
Xg.48688936C>ACA412873502WASn.452C>A
c.1208C>A (p.Pro403Gln)
c.1052C>A (p.Pro351Gln)
 gnomAD v4
Xg.48688936C=CA2428355763WASn.452C=
c.1208C= (p.Pro403=)
c.1052C= (p.Pro351=)
Xg.48688936C>GCA412873503WASn.452C>G
c.1208C>G (p.Pro403Arg)
c.1052C>G (p.Pro351Arg)
Xg.48688936C>TCA10404051WASn.452C>T
c.1208C>T (p.Pro403Leu)
c.1052C>T (p.Pro351Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688937G>ACA10404052WASn.453G>A
c.1209G>A (p.Pro403=)
c.1053G>A (p.Pro351=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688937G>CCA516356395WASn.453G>C
c.1209G>C (p.Pro403=)
c.1053G>C (p.Pro351=)
 dbSNP
Xg.48688937G=CA2428355764WASn.453G=
c.1209G= (p.Pro403=)
c.1053G= (p.Pro351=)
Xg.48688937G>TCA516356396WASn.453G>T
c.1209G>T (p.Pro403=)
c.1053G>T (p.Pro351=)
Xg.48688938C>ACA412873504WASn.454C>A
c.1210C>A (p.Pro404Thr)
c.1054C>A (p.Pro352Thr)
Xg.48688938C>GCA412873505WASn.454C>G
c.1210C>G (p.Pro404Ala)
c.1054C>G (p.Pro352Ala)
Xg.48688938C>TCA412873506WASn.454C>T
c.1210C>T (p.Pro404Ser)
c.1054C>T (p.Pro352Ser)
Xg.48688939C>ACA412873507WASn.455C>A
c.1211C>A (p.Pro404His)
c.1055C>A (p.Pro352His)
Xg.48688939C=CA2428355765WASn.455C=
c.1211C= (p.Pro404=)
c.1055C= (p.Pro352=)
Xg.48688939C>GCA412873508WASn.455C>G
c.1211C>G (p.Pro404Arg)
c.1055C>G (p.Pro352Arg)
 gnomAD v4
Xg.48688939C>TCA412873509WASn.455C>T
c.1211C>T (p.Pro404Leu)
c.1055C>T (p.Pro352Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688939_48688940insGCCA2695233787WASn.455_456insGC
c.1211_1212insGC (p.Ser405ProfsTer?)
c.1055_1056insGC (p.Ser353ProfsTer?)
Xg.48688940C>ACA516356402WASn.456C>A
c.1212C>A (p.Pro404=)
c.1056C>A (p.Pro352=)
Xg.48688940C>GCA516356401WASn.456C>G
c.1212C>G (p.Pro404=)
c.1056C>G (p.Pro352=)
Xg.48688940C>TCA516356400WASn.456C>T
c.1212C>T (p.Pro404=)
c.1056C>T (p.Pro352=)
Xg.48688941A>CCA412873510WASn.457A>C
c.1213A>C (p.Ser405Arg)
c.1057A>C (p.Ser353Arg)
 dbSNP
Xg.48688941A>GCA412873511WASn.457A>G
c.1213A>G (p.Ser405Gly)
c.1057A>G (p.Ser353Gly)
Xg.48688941A>TCA412873512WASn.457A>T
c.1213A>T (p.Ser405Cys)
c.1057A>T (p.Ser353Cys)
Xg.48688942G>ACA412873514WASn.458G>A
c.1214G>A (p.Ser405Asn)
c.1058G>A (p.Ser353Asn)
Xg.48688942G>CCA412873515WASn.458G>C
c.1214G>C (p.Ser405Thr)
c.1058G>C (p.Ser353Thr)
 dbSNP
Xg.48688942G>TCA412873513WASn.458G>T
c.1214G>T (p.Ser405Ile)
c.1058G>T (p.Ser353Ile)
Xg.48688943C>ACA412873516WASn.459C>A
c.1215C>A (p.Ser405Arg)
c.1059C>A (p.Ser353Arg)
 gnomAD v4
Xg.48688943C>GCA412873517WASn.459C>G
c.1215C>G (p.Ser405Arg)
c.1059C>G (p.Ser353Arg)
Xg.48688943C>TCA516356407WASn.459C>T
c.1215C>T (p.Ser405=)
c.1059C>T (p.Ser353=)
Xg.48688944T>ACA412873518WASn.460T>A
c.1216T>A (p.Ser406Thr)
c.1060T>A (p.Ser354Thr)
 dbSNP
Xg.48688944T>CCA412873519WASn.460T>C
c.1216T>C (p.Ser406Pro)
c.1060T>C (p.Ser354Pro)
Xg.48688944T>GCA412873520WASn.460T>G
c.1216T>G (p.Ser406Ala)
c.1060T>G (p.Ser354Ala)
Xg.48688944T=CA2428355766WASn.460T=
c.1216T= (p.Ser406=)
c.1060T= (p.Ser354=)
Xg.48688945C>ACA412873523WASn.461C>A
c.1217C>A (p.Ser406Tyr)
c.1061C>A (p.Ser354Tyr)
Xg.48688945C>GCA412873522WASn.461C>G
c.1217C>G (p.Ser406Cys)
c.1061C>G (p.Ser354Cys)
Xg.48688945C>TCA412873521WASn.461C>T
c.1217C>T (p.Ser406Phe)
c.1061C>T (p.Ser354Phe)
Xg.48688947_48688963dupCA16621419WASn.463_479dup
c.1219_1235dup (p.Pro413GlyfsTer?)
c.1063_1079dup (p.Pro361GlyfsTer?)
 ClinVar dbSNP
Xg.48688947_48688963delCA2695233788WASn.463_479del
c.1219_1235del (p.Gly407SerfsTer?)
c.1063_1079del (p.Gly355SerfsTer?)
Xg.48688946C>ACA516356411WASn.462C>A
c.1218C>A (p.Ser406=)
c.1062C>A (p.Ser354=)
 gnomAD v4
Xg.48688946C=CA2428355767WASn.462C=
c.1218C= (p.Ser406=)
c.1062C= (p.Ser354=)
Xg.48688946C>GCA516356412WASn.462C>G
c.1218C>G (p.Ser406=)
c.1062C>G (p.Ser354=)
Xg.48688946C>TCA10404053WASn.462C>T
c.1218C>T (p.Ser406=)
c.1062C>T (p.Ser354=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688947G>ACA10404054WASn.463G>A
c.1219G>A (p.Gly407Arg)
c.1063G>A (p.Gly355Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688947G>CCA412873524WASn.463G>C
c.1219G>C (p.Gly407Arg)
c.1063G>C (p.Gly355Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688947G=CA2428355768WASn.463G=
c.1219G= (p.Gly407=)
c.1063G= (p.Gly355=)
Xg.48688947G>TCA412873525WASn.463G>T
c.1219G>T (p.Gly407Trp)
c.1063G>T (p.Gly355Trp)
 gnomAD v4
Xg.48688948_48688949dupCA2695233789WASn.464_465dup
c.1220_1221dup (p.Asn408GlyfsTer?)
c.1064_1065dup (p.Asn356GlyfsTer?)
Xg.48688949delCA2580101065WASn.465del
c.1221del (p.Asn408MetfsTer?)
c.1065del (p.Asn356MetfsTer?)
 ClinVar
Xg.48688948G>ACA412873526WASn.464G>A
c.1220G>A (p.Gly407Glu)
c.1064G>A (p.Gly355Glu)
Xg.48688948G>CCA412873527WASn.464G>C
c.1220G>C (p.Gly407Ala)
c.1064G>C (p.Gly355Ala)
Xg.48688948G>TCA412873528WASn.464G>T
c.1220G>T (p.Gly407Val)
c.1064G>T (p.Gly355Val)
 gnomAD v4
Xg.48688949G>ACA516356416WASn.465G>A
c.1221G>A (p.Gly407=)
c.1065G>A (p.Gly355=)
Xg.48688949G>CCA516356417WASn.465G>C
c.1221G>C (p.Gly407=)
c.1065G>C (p.Gly355=)
Xg.48688949G>TCA516356418WASn.465G>T
c.1221G>T (p.Gly407=)
c.1065G>T (p.Gly355=)
Xg.48688950A>CCA412873529WASn.466A>C
c.1222A>C (p.Asn408His)
c.1066A>C (p.Asn356His)
Xg.48688950A>GCA412873531WASn.466A>G
c.1222A>G (p.Asn408Asp)
c.1066A>G (p.Asn356Asp)
Xg.48688950A>TCA412873530WASn.466A>T
c.1222A>T (p.Asn408Tyr)
c.1066A>T (p.Asn356Tyr)
 gnomAD v4
Xg.48688951A>CCA412873532WASn.467A>C
c.1223A>C (p.Asn408Thr)
c.1067A>C (p.Asn356Thr)
Xg.48688951A>GCA412873533WASn.467A>G
c.1223A>G (p.Asn408Ser)
c.1067A>G (p.Asn356Ser)
Xg.48688951A>TCA412873534WASn.467A>T
c.1223A>T (p.Asn408Ile)
c.1067A>T (p.Asn356Ile)
Xg.48688951_48688952delCA2695233790WASn.467_468del
c.1223_1224del (p.Asn408ArgfsTer?)
c.1067_1068del (p.Asn356ArgfsTer?)
Xg.48688952T>ACA412873535WASn.468T>A
c.1224T>A (p.Asn408Lys)
c.1068T>A (p.Asn356Lys)
Xg.48688952T>CCA516356422WASn.468T>C
c.1224T>C (p.Asn408=)
c.1068T>C (p.Asn356=)
Xg.48688952T>GCA412873536WASn.468T>G
c.1224T>G (p.Asn408Lys)
c.1068T>G (p.Asn356Lys)
Xg.48688953G>ACA412873537WASn.469G>A
c.1225G>A (p.Gly409Arg)
c.1069G>A (p.Gly357Arg)
 gnomAD v4
Xg.48688953G>CCA412873538WASn.469G>C
c.1225G>C (p.Gly409Arg)
c.1069G>C (p.Gly357Arg)
Xg.48688953G>TCA412873539WASn.469G>T
c.1225G>T (p.Gly409Ter)
c.1069G>T (p.Gly357Ter)
 gnomAD v4
Xg.48688954G>ACA10404055WASn.470G>A
c.1226G>A (p.Gly409Glu)
c.1070G>A (p.Gly357Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688954G>CCA412873540WASn.470G>C
c.1226G>C (p.Gly409Ala)
c.1070G>C (p.Gly357Ala)
Xg.48688954G=CA2428355769WASn.470G=
c.1226G= (p.Gly409=)
c.1070G= (p.Gly357=)
Xg.48688954G>TCA412873541WASn.470G>T
c.1226G>T (p.Gly409Val)
c.1070G>T (p.Gly357Val)
Xg.48688955A=CA2428355770WASn.471A=
c.1227A= (p.Gly409=)
c.1071A= (p.Gly357=)
Xg.48688955A>CCA10404056WASn.471A>C
c.1227A>C (p.Gly409=)
c.1071A>C (p.Gly357=)
 dbSNP ExAC gnomAD v4
Xg.48688955A>GCA516356426WASn.471A>G
c.1227A>G (p.Gly409=)
c.1071A>G (p.Gly357=)
Xg.48688955A>TCA516356427WASn.471A>T
c.1227A>T (p.Gly409=)
c.1071A>T (p.Gly357=)
Xg.48688956C>ACA412873542WASn.472C>A
c.1228C>A (p.Pro410Thr)
c.1072C>A (p.Pro358Thr)
Xg.48688956C>GCA412873544WASn.472C>G
c.1228C>G (p.Pro410Ala)
c.1072C>G (p.Pro358Ala)
Xg.48688956C>TCA412873543WASn.472C>T
c.1228C>T (p.Pro410Ser)
c.1072C>T (p.Pro358Ser)
Xg.48688957C>ACA412873545WASn.473C>A
c.1229C>A (p.Pro410Gln)
c.1073C>A (p.Pro358Gln)
 gnomAD v4
Xg.48688957C=CA2428355771WASn.473C=
c.1229C= (p.Pro410=)
c.1073C= (p.Pro358=)
Xg.48688957C>GCA412873546WASn.473C>G
c.1229C>G (p.Pro410Arg)
c.1073C>G (p.Pro358Arg)
 ClinVar dbSNP
Xg.48688957C>TCA412873547WASn.473C>T
c.1229C>T (p.Pro410Leu)
c.1073C>T (p.Pro358Leu)
Xg.48688958A>CCA516356431WASn.474A>C
c.1230A>C (p.Pro410=)
c.1074A>C (p.Pro358=)
Xg.48688958A>GCA516356432WASn.474A>G
c.1230A>G (p.Pro410=)
c.1074A>G (p.Pro358=)
Xg.48688958A>TCA516356433WASn.474A>T
c.1230A>T (p.Pro410=)
c.1074A>T (p.Pro358=)
Xg.48688959G>ACA412873548WASn.475G>A
c.1231G>A (p.Ala411Thr)
c.1075G>A (p.Ala359Thr)
 dbSNP
Xg.48688959G>CCA412873549WASn.475G>C
c.1231G>C (p.Ala411Pro)
c.1075G>C (p.Ala359Pro)
Xg.48688959G=CA2428355772WASn.475G=
c.1231G= (p.Ala411=)
c.1075G= (p.Ala359=)
Xg.48688959G>TCA412873550WASn.475G>T
c.1231G>T (p.Ala411Ser)
c.1075G>T (p.Ala359Ser)
Xg.48688960C>ACA412873551WASn.476C>A
c.1232C>A (p.Ala411Asp)
c.1076C>A (p.Ala359Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688960C=CA2428355773WASn.476C=
c.1232C= (p.Ala411=)
c.1076C= (p.Ala359=)
Xg.48688960C>GCA412873552WASn.476C>G
c.1232C>G (p.Ala411Gly)
c.1076C>G (p.Ala359Gly)
Xg.48688960C>TCA10404057WASn.476C>T
c.1232C>T (p.Ala411Val)
c.1076C>T (p.Ala359Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688960_48688961delinsGCA2695233792WASn.476_477delinsG
c.1232_1233delinsG (p.Ala411GlyfsTer?)
c.1076_1077delinsG (p.Ala359GlyfsTer?)
Xg.48688963dupCA2695233794WASn.479dup
c.1235dup (p.Pro413SerfsTer?)
c.1079dup (p.Pro361SerfsTer?)
Xg.48688962_48688963dupCA2695233793WASn.478_479dup
c.1234_1235dup (p.Pro413LeufsTer?)
c.1078_1079dup (p.Pro361LeufsTer?)
Xg.48688963delCA2695233791WASn.479del
c.1235del (p.Pro412LeufsTer?)
c.1079del (p.Pro360LeufsTer?)
Xg.48688961C>ACA516356438WASn.477C>A
c.1233C>A (p.Ala411=)
c.1077C>A (p.Ala359=)
 gnomAD v4
Xg.48688961C>GCA516356436WASn.477C>G
c.1233C>G (p.Ala411=)
c.1077C>G (p.Ala359=)
Xg.48688961C>TCA516356437WASn.477C>T
c.1233C>T (p.Ala411=)
c.1077C>T (p.Ala359=)
 gnomAD v4
Xg.48688962C>ACA412873553WASn.478C>A
c.1234C>A (p.Pro412Thr)
c.1078C>A (p.Pro360Thr)
Xg.48688962C>GCA412873554WASn.478C>G
c.1234C>G (p.Pro412Ala)
c.1078C>G (p.Pro360Ala)
Xg.48688962C>TCA412873555WASn.478C>T
c.1234C>T (p.Pro412Ser)
c.1078C>T (p.Pro360Ser)
Xg.48688963C>ACA412873558WASn.479C>A
c.1235C>A (p.Pro412His)
c.1079C>A (p.Pro360His)
Xg.48688963C>GCA412873557WASn.479C>G
c.1235C>G (p.Pro412Arg)
c.1079C>G (p.Pro360Arg)
Xg.48688963C>TCA412873556WASn.479C>T
c.1235C>T (p.Pro412Leu)
c.1079C>T (p.Pro360Leu)
Xg.48688968_48688975delCA2695233795WASn.484_491del
c.1240_1247del (p.Pro414SerfsTer?)
c.1084_1091del (p.Pro362SerfsTer?)
Xg.48688964T>ACA516356440WASn.480T>A
c.1236T>A (p.Pro412=)
c.1080T>A (p.Pro360=)
Xg.48688964T>CCA516356442WASn.480T>C
c.1236T>C (p.Pro412=)
c.1080T>C (p.Pro360=)
 gnomAD v4
Xg.48688964T>GCA516356443WASn.480T>G
c.1236T>G (p.Pro412=)
c.1080T>G (p.Pro360=)
Xg.48688965C>ACA412873559WASn.481C>A
c.1237C>A (p.Pro413Thr)
c.1081C>A (p.Pro361Thr)
Xg.48688965C>GCA412873560WASn.481C>G
c.1237C>G (p.Pro413Ala)
c.1081C>G (p.Pro361Ala)
Xg.48688965C>TCA412873561WASn.481C>T
c.1237C>T (p.Pro413Ser)
c.1081C>T (p.Pro361Ser)
Xg.48688969dupCA2695233796WASn.485dup
c.1241dup (p.Leu415ThrfsTer?)
c.1085dup (p.Leu363ThrfsTer?)
Xg.48688969delCA2693645043WASn.485del
c.1241del (p.Pro414HisfsTer?)
c.1085del (p.Pro362HisfsTer?)
 gnomAD v4
Xg.48688966C>ACA412873562WASn.482C>A
c.1238C>A (p.Pro413His)
c.1082C>A (p.Pro361His)
 gnomAD v4
Xg.48688966C>GCA412873563WASn.482C>G
c.1238C>G (p.Pro413Arg)
c.1082C>G (p.Pro361Arg)
Xg.48688966C>TCA412873564WASn.482C>T
c.1238C>T (p.Pro413Leu)
c.1082C>T (p.Pro361Leu)
 gnomAD v4
Xg.48688967C>ACA516356446WASn.483C>A
c.1239C>A (p.Pro413=)
c.1083C>A (p.Pro361=)
Xg.48688967C>GCA516356448WASn.483C>G
c.1239C>G (p.Pro413=)
c.1083C>G (p.Pro361=)
 gnomAD v4
Xg.48688967C>TCA516356449WASn.483C>T
c.1239C>T (p.Pro413=)
c.1083C>T (p.Pro361=)
 gnomAD v4
Xg.48688968C>ACA412873565WASn.484C>A
c.1240C>A (p.Pro414Thr)
c.1084C>A (p.Pro362Thr)
 dbSNP
Xg.48688968C>GCA412873566WASn.484C>G
c.1240C>G (p.Pro414Ala)
c.1084C>G (p.Pro362Ala)
Xg.48688968C>TCA412873567WASn.484C>T
c.1240C>T (p.Pro414Ser)
c.1084C>T (p.Pro362Ser)
 dbSNP gnomAD v4
Xg.48688969C>ACA412873568WASn.485C>A
c.1241C>A (p.Pro414Gln)
c.1085C>A (p.Pro362Gln)
 gnomAD v4
Xg.48688969C=CA2428355774WASn.485C=
c.1241C= (p.Pro414=)
c.1085C= (p.Pro362=)
Xg.48688969C>GCA329102421WASn.485C>G
c.1241C>G (p.Pro414Arg)
c.1085C>G (p.Pro362Arg)
 dbSNP
Xg.48688969C>TCA412873569WASn.485C>T
c.1241C>T (p.Pro414Leu)
c.1085C>T (p.Pro362Leu)
Xg.48688970A>CCA516356451WASn.486A>C
c.1242A>C (p.Pro414=)
c.1086A>C (p.Pro362=)
Xg.48688970A>GCA516356453WASn.486A>G
c.1242A>G (p.Pro414=)
c.1086A>G (p.Pro362=)
Xg.48688970A>TCA516356455WASn.486A>T
c.1242A>T (p.Pro414=)
c.1086A>T (p.Pro362=)
Xg.48688970dupCA2695233797WASn.486dup
c.1242dup (p.Leu415ThrfsTer?)
c.1086dup (p.Leu363ThrfsTer?)
Xg.48688971C>ACA412873572WASn.487C>A
c.1243C>A (p.Leu415Ile)
c.1087C>A (p.Leu363Ile)
Xg.48688971C>GCA412873571WASn.487C>G
c.1243C>G (p.Leu415Val)
c.1087C>G (p.Leu363Val)
Xg.48688971C>TCA412873570WASn.487C>T
c.1243C>T (p.Leu415Phe)
c.1087C>T (p.Leu363Phe)
Xg.48688972T>ACA412873573WASn.488T>A
c.1244T>A (p.Leu415His)
c.1088T>A (p.Leu363His)
Xg.48688972T>CCA10404058WASn.488T>C
c.1244T>C (p.Leu415Pro)
c.1088T>C (p.Leu363Pro)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
Xg.48688972T>GCA412873574WASn.488T>G
c.1244T>G (p.Leu415Arg)
c.1088T>G (p.Leu363Arg)
Xg.48688972T=CA2428355775WASn.488T=
c.1244T= (p.Leu415=)
c.1088T= (p.Leu363=)
Xg.48688973C>ACA516356456WASn.489C>A
c.1245C>A (p.Leu415=)
c.1089C>A (p.Leu363=)
 gnomAD v4
Xg.48688973C=CA2428355776WASn.489C=
c.1245C= (p.Leu415=)
c.1089C= (p.Leu363=)
Xg.48688973C>GCA516356457WASn.489C>G
c.1245C>G (p.Leu415=)
c.1089C>G (p.Leu363=)
Xg.48688973C>TCA516356458WASn.489C>T
c.1245C>T (p.Leu415=)
c.1089C>T (p.Leu363=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.48688974C>ACA412873575WASn.490C>A
c.1246C>A (p.Pro416Thr)
c.1090C>A (p.Pro364Thr)
Xg.48688974C>GCA412873576WASn.490C>G
c.1246C>G (p.Pro416Ala)
c.1090C>G (p.Pro364Ala)
Xg.48688974C>TCA412873577WASn.490C>T
c.1246C>T (p.Pro416Ser)
c.1090C>T (p.Pro364Ser)
Xg.48688975C>ACA412873578WASn.491C>A
c.1247C>A (p.Pro416His)
c.1091C>A (p.Pro364His)
Xg.48688975C=CA2428355777WASn.491C=
c.1247C= (p.Pro416=)
c.1091C= (p.Pro364=)
Xg.48688975C>GCA412873579WASn.491C>G
c.1247C>G (p.Pro416Arg)
c.1091C>G (p.Pro364Arg)
Xg.48688975C>TCA412873580WASn.491C>T
c.1247C>T (p.Pro416Leu)
c.1091C>T (p.Pro364Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48688976T>ACA516356459WASn.492T>A
c.1248T>A (p.Pro416=)
c.1092T>A (p.Pro364=)
Xg.48688976T>CCA516356460WASn.492T>C
c.1248T>C (p.Pro416=)
c.1092T>C (p.Pro364=)
Xg.48688976T>GCA516356461WASn.492T>G
c.1248T>G (p.Pro416=)
c.1092T>G (p.Pro364=)
Xg.48688977C>ACA412873583WASn.493C>A
c.1249C>A (p.Pro417Thr)
c.1093C>A (p.Pro365Thr)
Xg.48688977C>GCA412873582WASn.493C>G
c.1249C>G (p.Pro417Ala)
c.1093C>G (p.Pro365Ala)
 gnomAD v4
Xg.48688977C>TCA412873581WASn.493C>T
c.1249C>T (p.Pro417Ser)
c.1093C>T (p.Pro365Ser)
 gnomAD v4 COSMIC
Xg.48688978C>ACA412873584WASn.494C>A
c.1250C>A (p.Pro417His)
c.1094C>A (p.Pro365His)
Xg.48688978C>GCA412873585WASn.494C>G
c.1250C>G (p.Pro417Arg)
c.1094C>G (p.Pro365Arg)
Xg.48688978C>TCA412873586WASn.494C>T
c.1250C>T (p.Pro417Leu)
c.1094C>T (p.Pro365Leu)
Xg.48688979T>ACA516356462WASn.495T>A
c.1251T>A (p.Pro417=)
c.1095T>A (p.Pro365=)
Xg.48688979T>CCA516356463WASn.495T>C
c.1251T>C (p.Pro417=)
c.1095T>C (p.Pro365=)
Xg.48688979T>GCA516356464WASn.495T>G
c.1251T>G (p.Pro417=)
c.1095T>G (p.Pro365=)
Xg.48688980G>ACA412873587WASn.496G>A
c.1252G>A (p.Ala418Thr)
c.1096G>A (p.Ala366Thr)
 ClinVar dbSNP
Xg.48688980G>CCA412873588WASn.496G>C
c.1252G>C (p.Ala418Pro)
c.1096G>C (p.Ala366Pro)
Xg.48688980G=CA2428355778WASn.496G=
c.1252G= (p.Ala418=)
c.1096G= (p.Ala366=)
Xg.48688980G>TCA10404059WASn.496G>T
c.1252G>T (p.Ala418Ser)
c.1096G>T (p.Ala366Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688981C>ACA412873590WASn.497C>A
c.1253C>A (p.Ala418Asp)
c.1097C>A (p.Ala366Asp)
 gnomAD v4
Xg.48688981C=CA2428355779WASn.497C=
c.1253C= (p.Ala418=)
c.1097C= (p.Ala366=)
Xg.48688981C>GCA412873589WASn.497C>G
c.1253C>G (p.Ala418Gly)
c.1097C>G (p.Ala366Gly)
Xg.48688981C>TCA10404060WASn.497C>T
c.1253C>T (p.Ala418Val)
c.1097C>T (p.Ala366Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688982T>ACA516356467WASn.498T>A
c.1254T>A (p.Ala418=)
c.1098T>A (p.Ala366=)
Xg.48688982T>CCA516356466WASn.498T>C
c.1254T>C (p.Ala418=)
c.1098T>C (p.Ala366=)
Xg.48688982T>GCA516356465WASn.498T>G
c.1254T>G (p.Ala418=)
c.1098T>G (p.Ala366=)
Xg.48688983C>ACA412873591WASn.499C>A
c.1255C>A (p.Leu419Met)
c.1099C>A (p.Leu367Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688983C=CA2428355780WASn.499C=
c.1255C= (p.Leu419=)
c.1099C= (p.Leu367=)
Xg.48688983C>GCA412873592WASn.499C>G
c.1255C>G (p.Leu419Val)
c.1099C>G (p.Leu367Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688983C>TCA516356468WASn.499C>T
c.1255C>T (p.Leu419=)
c.1099C>T (p.Leu367=)
Xg.48688984T>ACA412873593WASn.500T>A
c.1256T>A (p.Leu419Gln)
c.1100T>A (p.Leu367Gln)
Xg.48688984T>CCA412873594WASn.500T>C
c.1256T>C (p.Leu419Pro)
c.1100T>C (p.Leu367Pro)
Xg.48688984T>GCA412873595WASn.500T>G
c.1256T>G (p.Leu419Arg)
c.1100T>G (p.Leu367Arg)
Xg.48688985G>ACA516356469WASn.501G>A
c.1257G>A (p.Leu419=)
c.1101G>A (p.Leu367=)
Xg.48688985G>CCA516356470WASn.501G>C
c.1257G>C (p.Leu419=)
c.1101G>C (p.Leu367=)
Xg.48688985G>TCA516356471WASn.501G>T
c.1257G>T (p.Leu419=)
c.1101G>T (p.Leu367=)
 gnomAD v4
Xg.48688986G>ACA412873598WASn.502G>A
c.1258G>A (p.Val420Met)
c.1102G>A (p.Val368Met)
 gnomAD v4
Xg.48688986G>CCA412873597WASn.502G>C
c.1258G>C (p.Val420Leu)
c.1102G>C (p.Val368Leu)
Xg.48688986G>TCA412873596WASn.502G>T
c.1258G>T (p.Val420Leu)
c.1102G>T (p.Val368Leu)
Xg.48688987T>ACA412873599WASn.503T>A
c.1259T>A (p.Val420Glu)
c.1103T>A (p.Val368Glu)
Xg.48688987T>CCA412873600WASn.503T>C
c.1259T>C (p.Val420Ala)
c.1103T>C (p.Val368Ala)
 ClinVar
Xg.48688987T>GCA412873601WASn.503T>G
c.1259T>G (p.Val420Gly)
c.1103T>G (p.Val368Gly)
Xg.48688988G>ACA516356472WASn.504G>A
c.1260G>A (p.Val420=)
c.1104G>A (p.Val368=)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688988G>CCA516356474WASn.504G>C
c.1260G>C (p.Val420=)
c.1104G>C (p.Val368=)
Xg.48688988G=CA2428355781WASn.504G=
c.1260G= (p.Val420=)
c.1104G= (p.Val368=)
Xg.48688988G>TCA516356473WASn.504G>T
c.1260G>T (p.Val420=)
c.1104G>T (p.Val368=)
Xg.48688993_48689003delCA2695233798WASn.509_519del
c.1265_1275del (p.Ala422GlyfsTer?)
c.1109_1119del (p.Ala370GlyfsTer?)
Xg.48688989C>ACA412873602WASn.505C>A
c.1261C>A (p.Pro421Thr)
c.1105C>A (p.Pro369Thr)
Xg.48688989C>GCA412873603WASn.505C>G
c.1261C>G (p.Pro421Ala)
c.1105C>G (p.Pro369Ala)
Xg.48688989C>TCA412873604WASn.505C>T
c.1261C>T (p.Pro421Ser)
c.1105C>T (p.Pro369Ser)
 gnomAD v4 COSMIC
Xg.48688990C>ACA412873605WASn.506C>A
c.1262C>A (p.Pro421His)
c.1106C>A (p.Pro369His)
Xg.48688990C>GCA412873607WASn.506C>G
c.1262C>G (p.Pro421Arg)
c.1106C>G (p.Pro369Arg)
Xg.48688990C>TCA412873606WASn.506C>T
c.1262C>T (p.Pro421Leu)
c.1106C>T (p.Pro369Leu)
Xg.48688991T>ACA516356475WASn.507T>A
c.1263T>A (p.Pro421=)
c.1107T>A (p.Pro369=)
 ClinVar
Xg.48688991T>CCA516356477WASn.507T>C
c.1263T>C (p.Pro421=)
c.1107T>C (p.Pro369=)
Xg.48688991T>GCA516356476WASn.507T>G
c.1263T>G (p.Pro421=)
c.1107T>G (p.Pro369=)
Xg.48688992G>ACA412873608WASn.508G>A
c.1264G>A (p.Ala422Thr)
c.1108G>A (p.Ala370Thr)
Xg.48688992G>CCA412873609WASn.508G>C
c.1264G>C (p.Ala422Pro)
c.1108G>C (p.Ala370Pro)
Xg.48688992G>TCA412873610WASn.508G>T
c.1264G>T (p.Ala422Ser)
c.1108G>T (p.Ala370Ser)
Xg.48688993C>ACA412873611WASn.509C>A
c.1265C>A (p.Ala422Asp)
c.1109C>A (p.Ala370Asp)
 gnomAD v4
Xg.48688993C=CA2428355782WASn.509C=
c.1265C= (p.Ala422=)
c.1109C= (p.Ala370=)
Xg.48688993C>GCA412873612WASn.509C>G
c.1265C>G (p.Ala422Gly)
c.1109C>G (p.Ala370Gly)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688993C>TCA412873613WASn.509C>T
c.1265C>T (p.Ala422Val)
c.1109C>T (p.Ala370Val)
 gnomAD v4 COSMIC
Xg.48688994delCA2580101067WASn.510del
c.1266del (p.Gly424AlafsTer21)
c.1110del (p.Gly372AlafsTer21)
 ClinVar
Xg.48688994C>ACA516356478WASn.510C>A
c.1266C>A (p.Ala422=)
c.1110C>A (p.Ala370=)
 gnomAD v4
Xg.48688994C=CA2428355783WASn.510C=
c.1266C= (p.Ala422=)
c.1110C= (p.Ala370=)
Xg.48688994C>GCA516356479WASn.510C>G
c.1266C>G (p.Ala422=)
c.1110C>G (p.Ala370=)
 gnomAD v4
Xg.48688994C>TCA10404061WASn.510C>T
c.1266C>T (p.Ala422=)
c.1110C>T (p.Ala370=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688995G>ACA10404063WASn.511G>A
c.1267G>A (p.Gly423Arg)
c.1111G>A (p.Gly371Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688995G>CCA10404062WASn.511G>C
c.1267G>C (p.Gly423Arg)
c.1111G>C (p.Gly371Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688995G=CA2428355784WASn.511G=
c.1267G= (p.Gly423=)
c.1111G= (p.Gly371=)
Xg.48688995G>TCA412873614WASn.511G>T
c.1267G>T (p.Gly423Trp)
c.1111G>T (p.Gly371Trp)
 gnomAD v4
Xg.48688999dupCA658684302WASn.515dup
c.1271dup (p.Leu425ProfsTer?)
c.1115dup (p.Leu373ProfsTer?)
 ClinVar dbSNP
Xg.48688999delCA2579600726WASn.515del
c.1271del (p.Gly424AlafsTer21)
c.1115del (p.Gly372AlafsTer21)
 ClinVar gnomAD v4
Xg.48689000_48689017delCA2695233799WASn.516_533del
c.1272_1289del (p.Leu425_Gly430del)
c.1116_1133del (p.Leu373_Gly378del)
Xg.48688998_48689023delCA2573158943WASn.514_539del
c.1270_1295del (p.Gly424SerfsTer?)
c.1114_1139del (p.Gly372SerfsTer?)
 ClinVar dbSNP
Xg.48688996G>ACA412873615WASn.512G>A
c.1268G>A (p.Gly423Glu)
c.1112G>A (p.Gly371Glu)
 dbSNP gnomAD v4
Xg.48688996G>CCA412873616WASn.512G>C
c.1268G>C (p.Gly423Ala)
c.1112G>C (p.Gly371Ala)
Xg.48688996G=CA2428355785WASn.512G=
c.1268G= (p.Gly423=)
c.1112G= (p.Gly371=)
Xg.48688996G>TCA412873617WASn.512G>T
c.1268G>T (p.Gly423Val)
c.1112G>T (p.Gly371Val)
Xg.48688997G>ACA516356480WASn.513G>A
c.1269G>A (p.Gly423=)
c.1113G>A (p.Gly371=)
 gnomAD v4
Xg.48688997G>CCA516356482WASn.513G>C
c.1269G>C (p.Gly423=)
c.1113G>C (p.Gly371=)
Xg.48688997G>TCA516356481WASn.513G>T
c.1269G>T (p.Gly423=)
c.1113G>T (p.Gly371=)
Xg.48688998G>ACA412873620WASn.514G>A
c.1270G>A (p.Gly424Ser)
c.1114G>A (p.Gly372Ser)
 gnomAD v4
Xg.48688998G>CCA412873618WASn.514G>C
c.1270G>C (p.Gly424Arg)
c.1114G>C (p.Gly372Arg)
Xg.48688998G>TCA412873619WASn.514G>T
c.1270G>T (p.Gly424Cys)
c.1114G>T (p.Gly372Cys)
Xg.48689001_48689046delCA2580101069WASn.517_562del
c.1273_1318del (p.Leu425ArgfsTer5)
c.1117_1162del (p.Leu373ArgfsTer5)
 ClinVar
Xg.48688999G>ACA412873621WASn.515G>A
c.1271G>A (p.Gly424Asp)
c.1115G>A (p.Gly372Asp)
Xg.48688999G>CCA412873622WASn.515G>C
c.1271G>C (p.Gly424Ala)
c.1115G>C (p.Gly372Ala)
 gnomAD v4
Xg.48688999G>TCA412873623WASn.515G>T
c.1271G>T (p.Gly424Val)
c.1115G>T (p.Gly372Val)
 gnomAD v4
Xg.48689000C>ACA516356483WASn.516C>A
c.1272C>A (p.Gly424=)
c.1116C>A (p.Gly372=)
Xg.48689000C=CA2428355786WASn.516C=
c.1272C= (p.Gly424=)
c.1116C= (p.Gly372=)
Xg.48689000C>GCA516356484WASn.516C>G
c.1272C>G (p.Gly424=)
c.1116C>G (p.Gly372=)
Xg.48689000C>TCA10404064WASn.516C>T
c.1272C>T (p.Gly424=)
c.1116C>T (p.Gly372=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48689000_48689005delinsCCTGGCCA2428355787WASn.516_521delinsCCTGGC
c.1272_1277delinsCCTGGC (p.Gly424=)
c.1116_1121delinsCCTGGC (p.Gly372=)
Xg.48689000_48689005delinsGCCTGGCA1139667533WASn.516_521delinsGCCTGG
c.1272_1277delinsGCCTGG (p.Leu425_Ala426delinsProGly)
c.1116_1121delinsGCCTGG (p.Leu373_Ala374delinsProGly)
 ClinVar dbSNP
Xg.48689001C>ACA412873624WASn.517C>A
c.1273C>A (p.Leu425Met)
c.1117C>A (p.Leu373Met)
 gnomAD v4
Xg.48689001C>GCA412873625WASn.517C>G
c.1273C>G (p.Leu425Val)
c.1117C>G (p.Leu373Val)
Xg.48689001C>TCA516356485WASn.517C>T
c.1273C>T (p.Leu425=)
c.1117C>T (p.Leu373=)
Xg.48689002T>ACA412873626WASn.518T>A
c.1274T>A (p.Leu425Gln)
c.1118T>A (p.Leu373Gln)
 dbSNP gnomAD v2
Xg.48689002T>CCA412873627WASn.518T>C
c.1274T>C (p.Leu425Pro)
c.1118T>C (p.Leu373Pro)
 ClinVar gnomAD v4
Xg.48689002T>GCA412873628WASn.518T>G
c.1274T>G (p.Leu425Arg)
c.1118T>G (p.Leu373Arg)
Xg.48689002T=CA2428355788WASn.518T=
c.1274T= (p.Leu425=)
c.1118T= (p.Leu373=)
Xg.48689005_48689014delCA2695233800WASn.521_530del
c.1277_1286del (p.Ala426GlyfsTer16)
c.1121_1130del (p.Ala374GlyfsTer16)
Xg.48689003G>ACA516356486WASn.519G>A
c.1275G>A (p.Leu425=)
c.1119G>A (p.Leu373=)
 dbSNP gnomAD v2 gnomAD v4
Xg.48689003G>CCA516356487WASn.519G>C
c.1275G>C (p.Leu425=)
c.1119G>C (p.Leu373=)
Xg.48689003G=CA2428355789WASn.519G=
c.1275G= (p.Leu425=)
c.1119G= (p.Leu373=)
Xg.48689003G>TCA516356488WASn.519G>T
c.1275G>T (p.Leu425=)
c.1119G>T (p.Leu373=)
Xg.48689004G>ACA412873629WASn.520G>A
c.1276G>A (p.Ala426Thr)
c.1120G>A (p.Ala374Thr)
Xg.48689004G>CCA412873630WASn.520G>C
c.1276G>C (p.Ala426Pro)
c.1120G>C (p.Ala374Pro)
Xg.48689004G=CA2428355790WASn.520G=
c.1276G= (p.Ala426=)
c.1120G= (p.Ala374=)
Xg.48689004G>TCA10404065WASn.520G>T
c.1276G>T (p.Ala426Ser)
c.1120G>T (p.Ala374Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48689005C>ACA412873631WASn.521C>A
c.1277C>A (p.Ala426Asp)
c.1121C>A (p.Ala374Asp)
 gnomAD v4
Xg.48689005C>GCA412873633WASn.521C>G
c.1277C>G (p.Ala426Gly)
c.1121C>G (p.Ala374Gly)
Xg.48689005C>TCA412873632WASn.521C>T
c.1277C>T (p.Ala426Val)
c.1121C>T (p.Ala374Val)
 gnomAD v4
Xg.48689006C>ACA516356491WASn.522C>A
c.1278C>A (p.Ala426=)
c.1122C>A (p.Ala374=)
Xg.48689006C>GCA516356489WASn.522C>G
c.1278C>G (p.Ala426=)
c.1122C>G (p.Ala374=)
Xg.48689006C>TCA516356490WASn.522C>T
c.1278C>T (p.Ala426=)
c.1122C>T (p.Ala374=)
Xg.48689007C>ACA412873634WASn.523C>A
c.1279C>A (p.Pro427Thr)
c.1123C>A (p.Pro375Thr)
Xg.48689007C>GCA412873635WASn.523C>G
c.1279C>G (p.Pro427Ala)
c.1123C>G (p.Pro375Ala)
Xg.48689007C>TCA412873636WASn.523C>T
c.1279C>T (p.Pro427Ser)
c.1123C>T (p.Pro375Ser)
Xg.48689008C>ACA412873637WASn.524C>A
c.1280C>A (p.Pro427His)
c.1124C>A (p.Pro375His)
Xg.48689008C=CA2428355791WASn.524C=
c.1280C= (p.Pro427=)
c.1124C= (p.Pro375=)
Xg.48689008C>GCA412873638WASn.524C>G
c.1280C>G (p.Pro427Arg)
c.1124C>G (p.Pro375Arg)
Xg.48689008C>TCA10404066WASn.524C>T
c.1280C>T (p.Pro427Leu)
c.1124C>T (p.Pro375Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48689009T>ACA516356492WASn.525T>A
c.1281T>A (p.Pro427=)
c.1125T>A (p.Pro375=)
Xg.48689009T>CCA516356493WASn.525T>C
c.1281T>C (p.Pro427=)
c.1125T>C (p.Pro375=)
 dbSNP gnomAD v2 gnomAD v4
Xg.48689009T>GCA516356494WASn.525T>G
c.1281T>G (p.Pro427=)
c.1125T>G (p.Pro375=)
Xg.48689009T=CA2428355792WASn.525T=
c.1281T= (p.Pro427=)
c.1125T= (p.Pro375=)
Xg.48689010G>ACA412873641WASn.526G>A
c.1282G>A (p.Gly428Ser)
c.1126G>A (p.Gly376Ser)
Xg.48689010G>CCA412873640WASn.526G>C
c.1282G>C (p.Gly428Arg)
c.1126G>C (p.Gly376Arg)
Xg.48689010G>TCA412873639WASn.526G>T
c.1282G>T (p.Gly428Cys)
c.1126G>T (p.Gly376Cys)
Xg.48689011G>ACA412873642WASn.527G>A
c.1283G>A (p.Gly428Asp)
c.1127G>A (p.Gly376Asp)
Xg.48689011G>CCA412873643WASn.527G>C
c.1283G>C (p.Gly428Ala)
c.1127G>C (p.Gly376Ala)
 gnomAD v4
Xg.48689011G>TCA412873644WASn.527G>T
c.1283G>T (p.Gly428Val)
c.1127G>T (p.Gly376Val)
 gnomAD v4
Xg.48689012T>ACA516356497WASn.528T>A
c.1284T>A (p.Gly428=)
c.1128T>A (p.Gly376=)
Xg.48689012T>CCA516356495WASn.528T>C
c.1284T>C (p.Gly428=)
c.1128T>C (p.Gly376=)
Xg.48689012T>GCA516356496WASn.528T>G
c.1284T>G (p.Gly428=)
c.1128T>G (p.Gly376=)
 gnomAD v3 gnomAD v4

Number of alleles fetched