Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.155235727C>ACA342712871GBA1c.1342G>T (p.Asp448Tyr)
c.1195G>T (p.Asp399Tyr)
c.1081G>T (p.Asp361Tyr)
n.109G>T
n.333G>T
n.501G>T
1g.155235727C=CA1139849879GBA1c.1342G= (p.Asp448=)
c.1195G= (p.Asp399=)
c.1081G= (p.Asp361=)
n.109G=
n.333G=
n.501G=
1g.155235727C>GCA221392GBA1c.1342G>C (p.Asp448His)
c.1195G>C (p.Asp399His)
c.1081G>C (p.Asp361His)
n.109G>C
n.333G>C
n.501G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.[155235727C>G;155237458A>C]CA028618GBA1c.[882T>G;1342G>C] (p.[His294Gln;Asp448His])
c.[735T>G;1195G>C] (p.[His245Gln;Asp399His])
c.[621T>G;1081G>C] (p.[His207Gln;Asp361His])
n.[340-1170T>G;501G>C]
 ClinVar
1g.155235727C>TCA342712884GBA1c.1342G>A (p.Asp448Asn)
c.1195G>A (p.Asp399Asn)
c.1081G>A (p.Asp361Asn)
n.109G>A
n.333G>A
n.501G>A
 gnomAD v4
1g.155235728C>ACA342712887GBA1c.1341G>T (p.Lys447Asn)
c.1194G>T (p.Lys398Asn)
c.1080G>T (p.Lys360Asn)
n.108G>T
n.332G>T
n.500G>T
1g.155235728C>GCA342712889GBA1c.1341G>C (p.Lys447Asn)
c.1194G>C (p.Lys398Asn)
c.1080G>C (p.Lys360Asn)
n.108G>C
n.332G>C
n.500G>C
1g.155235728C>TCA421020277GBA1c.1341G>A (p.Lys447=)
c.1194G>A (p.Lys398=)
c.1080G>A (p.Lys360=)
n.108G>A
n.332G>A
n.500G>A
1g.155235729T>ACA342712895GBA1c.1340A>T (p.Lys447Met)
c.1193A>T (p.Lys398Met)
c.1079A>T (p.Lys360Met)
n.107A>T
n.331A>T
n.499A>T
1g.155235729T>CCA342712898GBA1c.1340A>G (p.Lys447Arg)
c.1193A>G (p.Lys398Arg)
c.1079A>G (p.Lys360Arg)
n.107A>G
n.331A>G
n.499A>G
 dbSNP
1g.155235729T>GCA342712901GBA1c.1340A>C (p.Lys447Thr)
c.1193A>C (p.Lys398Thr)
c.1079A>C (p.Lys360Thr)
n.107A>C
n.331A>C
n.499A>C
1g.155235729T=CA2481201681GBA1c.1340A= (p.Lys447=)
c.1193A= (p.Lys398=)
c.1079A= (p.Lys360=)
n.107A=
n.331A=
n.499A=
1g.155235730T>ACA342712907GBA1c.1339A>T (p.Lys447Ter)
c.1192A>T (p.Lys398Ter)
c.1078A>T (p.Lys360Ter)
n.106A>T
n.330A>T
n.498A>T
1g.155235730T>CCA342712906GBA1c.1339A>G (p.Lys447Glu)
c.1192A>G (p.Lys398Glu)
c.1078A>G (p.Lys360Glu)
n.106A>G
n.330A>G
n.498A>G
1g.155235730T>GCA342712905GBA1c.1339A>C (p.Lys447Gln)
c.1192A>C (p.Lys398Gln)
c.1078A>C (p.Lys360Gln)
n.106A>C
n.330A>C
n.498A>C
1g.155235731G>ACA421020282GBA1c.1338C>T (p.Thr446=)
c.1191C>T (p.Thr397=)
c.1077C>T (p.Thr359=)
n.105C>T
n.329C>T
n.497C>T
 dbSNP gnomAD v2
1g.155235731G>CCA421020281GBA1c.1338C>G (p.Thr446=)
c.1191C>G (p.Thr397=)
c.1077C>G (p.Thr359=)
n.105C>G
n.329C>G
n.497C>G
1g.155235731G=CA2481201682GBA1c.1338C= (p.Thr446=)
c.1191C= (p.Thr397=)
c.1077C= (p.Thr359=)
n.105C=
n.329C=
n.497C=
1g.155235731G>TCA421020280GBA1c.1338C>A (p.Thr446=)
c.1191C>A (p.Thr397=)
c.1077C>A (p.Thr359=)
n.105C>A
n.329C>A
n.497C>A
1g.155235732G>ACA342712908GBA1c.1337C>T (p.Thr446Ile)
c.1190C>T (p.Thr397Ile)
c.1076C>T (p.Thr359Ile)
n.104C>T
n.328C>T
n.496C>T
1g.155235732G>CCA342712909GBA1c.1337C>G (p.Thr446Ser)
c.1190C>G (p.Thr397Ser)
c.1076C>G (p.Thr359Ser)
n.104C>G
n.328C>G
n.496C>G
1g.155235732G=CA1143534667GBA1c.1337C= (p.Thr446=)
c.1190C= (p.Thr397=)
c.1076C= (p.Thr359=)
n.104C=
n.328C=
n.496C=
1g.155235732G>TCA30894467GBA1c.1337C>A (p.Thr446Asn)
c.1190C>A (p.Thr397Asn)
c.1076C>A (p.Thr359Asn)
n.104C>A
n.328C>A
n.496C>A
 dbSNP
1g.155235733T>ACA342712910GBA1c.1336A>T (p.Thr446Ser)
c.1189A>T (p.Thr397Ser)
c.1075A>T (p.Thr359Ser)
n.103A>T
n.327A>T
n.495A>T
1g.155235733T>CCA342712915GBA1c.1336A>G (p.Thr446Ala)
c.1189A>G (p.Thr397Ala)
c.1075A>G (p.Thr359Ala)
n.103A>G
n.327A>G
n.495A>G
1g.155235733T>GCA342712920GBA1c.1336A>C (p.Thr446Pro)
c.1189A>C (p.Thr397Pro)
c.1075A>C (p.Thr359Pro)
n.103A>C
n.327A>C
n.495A>C
1g.155235734G>ACA421020286GBA1c.1335C>T (p.Ile445=)
c.1188C>T (p.Ile396=)
c.1074C>T (p.Ile358=)
n.102C>T
n.326C>T
n.494C>T
1g.155235734G>CCA342712924GBA1c.1335C>G (p.Ile445Met)
c.1188C>G (p.Ile396Met)
c.1074C>G (p.Ile358Met)
n.102C>G
n.326C>G
n.494C>G
1g.155235734G>TCA421020287GBA1c.1335C>A (p.Ile445=)
c.1188C>A (p.Ile396=)
c.1074C>A (p.Ile358=)
n.102C>A
n.326C>A
n.494C>A
1g.155235735A>CCA342712927GBA1c.1334T>G (p.Ile445Ser)
c.1187T>G (p.Ile396Ser)
c.1073T>G (p.Ile358Ser)
n.101T>G
n.325T>G
n.493T>G
1g.155235735A>GCA342712933GBA1c.1334T>C (p.Ile445Thr)
c.1187T>C (p.Ile396Thr)
c.1073T>C (p.Ile358Thr)
n.101T>C
n.325T>C
n.493T>C
1g.155235735A>TCA342712934GBA1c.1334T>A (p.Ile445Asn)
c.1187T>A (p.Ile396Asn)
c.1073T>A (p.Ile358Asn)
n.101T>A
n.325T>A
n.493T>A
1g.155235736T>ACA342712939GBA1c.1333A>T (p.Ile445Phe)
c.1186A>T (p.Ile396Phe)
c.1072A>T (p.Ile358Phe)
n.100A>T
n.324A>T
n.492A>T
1g.155235736T>CCA342712950GBA1c.1333A>G (p.Ile445Val)
c.1186A>G (p.Ile396Val)
c.1072A>G (p.Ile358Val)
n.100A>G
n.324A>G
n.492A>G
 gnomAD v4
1g.155235736T>GCA342712952GBA1c.1333A>C (p.Ile445Leu)
c.1186A>C (p.Ile396Leu)
c.1072A>C (p.Ile358Leu)
n.100A>C
n.324A>C
n.492A>C
1g.155235737G>ACA1141554GBA1c.1332C>T (p.Asp444=)
c.1185C>T (p.Asp395=)
c.1071C>T (p.Asp357=)
n.99C>T
n.323C>T
n.491C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155235737G>CCA342712964GBA1c.1332C>G (p.Asp444Glu)
c.1185C>G (p.Asp395Glu)
c.1071C>G (p.Asp357Glu)
n.99C>G
n.323C>G
n.491C>G
1g.155235737G=CA2481201683GBA1c.1332C= (p.Asp444=)
c.1185C= (p.Asp395=)
c.1071C= (p.Asp357=)
n.99C=
n.323C=
n.491C=
1g.155235737G>TCA342712962GBA1c.1332C>A (p.Asp444Glu)
c.1185C>A (p.Asp395Glu)
c.1071C>A (p.Asp357Glu)
n.99C>A
n.323C>A
n.491C>A
1g.155235738T>ACA342712987GBA1c.1331A>T (p.Asp444Val)
c.1184A>T (p.Asp395Val)
c.1070A>T (p.Asp357Val)
n.98A>T
n.322A>T
n.490A>T
 gnomAD v4
1g.155235738T>CCA342712981GBA1c.1331A>G (p.Asp444Gly)
c.1184A>G (p.Asp395Gly)
c.1070A>G (p.Asp357Gly)
n.98A>G
n.322A>G
n.490A>G
1g.155235738T>GCA342712984GBA1c.1331A>C (p.Asp444Ala)
c.1184A>C (p.Asp395Ala)
c.1070A>C (p.Asp357Ala)
n.98A>C
n.322A>C
n.490A>C
1g.155235739C>ACA342712992GBA1c.1330G>T (p.Asp444Tyr)
c.1183G>T (p.Asp395Tyr)
c.1069G>T (p.Asp357Tyr)
n.97G>T
n.321G>T
n.489G>T
1g.155235739C>GCA342712993GBA1c.1330G>C (p.Asp444His)
c.1183G>C (p.Asp395His)
c.1069G>C (p.Asp357His)
n.97G>C
n.321G>C
n.489G>C
1g.155235739C>TCA342712994GBA1c.1330G>A (p.Asp444Asn)
c.1183G>A (p.Asp395Asn)
c.1069G>A (p.Asp357Asn)
n.97G>A
n.321G>A
n.489G>A
1g.155235740T>ACA421020289GBA1c.1329A>T (p.Val443=)
c.1182A>T (p.Val394=)
c.1068A>T (p.Val356=)
n.96A>T
n.320A>T
n.488A>T
1g.155235740T>CCA421020290GBA1c.1329A>G (p.Val443=)
c.1182A>G (p.Val394=)
c.1068A>G (p.Val356=)
n.96A>G
n.320A>G
n.488A>G
1g.155235740T>GCA421020291GBA1c.1329A>C (p.Val443=)
c.1182A>C (p.Val394=)
c.1068A>C (p.Val356=)
n.96A>C
n.320A>C
n.488A>C
1g.155235741A>CCA342712995GBA1c.1328T>G (p.Val443Gly)
c.1181T>G (p.Val394Gly)
c.1067T>G (p.Val356Gly)
n.95T>G
n.319T>G
n.487T>G
1g.155235741A>GCA342712996GBA1c.1328T>C (p.Val443Ala)
c.1181T>C (p.Val394Ala)
c.1067T>C (p.Val356Ala)
n.95T>C
n.319T>C
n.487T>C
1g.155235741A>TCA342712999GBA1c.1328T>A (p.Val443Glu)
c.1181T>A (p.Val394Glu)
c.1067T>A (p.Val356Glu)
n.95T>A
n.319T>A
n.487T>A
1g.155235742C>ACA342713003GBA1c.1327G>T (p.Val443Leu)
c.1180G>T (p.Val394Leu)
c.1066G>T (p.Val356Leu)
n.94G>T
n.318G>T
n.486G>T
1g.155235742C>GCA342713006GBA1c.1327G>C (p.Val443Leu)
c.1180G>C (p.Val394Leu)
c.1066G>C (p.Val356Leu)
n.94G>C
n.318G>C
n.486G>C
1g.155235742C>TCA342713010GBA1c.1327G>A (p.Val443Ile)
c.1180G>A (p.Val394Ile)
c.1066G>A (p.Val356Ile)
n.94G>A
n.318G>A
n.486G>A
1g.155235742_155235745delinsCAATCA2481201684GBA1c.1324_1327delinsATTG (p.Ile442=)
c.1177_1180delinsATTG (p.Ile393=)
c.1063_1066delinsATTG (p.Ile355=)
n.91_94delinsATTG
n.315_318delinsATTG
n.483_486delinsATTG
1g.155235743A>CCA342713021GBA1c.1326T>G (p.Ile442Met)
c.1179T>G (p.Ile393Met)
c.1065T>G (p.Ile355Met)
n.93T>G
n.317T>G
n.485T>G
1g.155235743A>GCA421020294GBA1c.1326T>C (p.Ile442=)
c.1179T>C (p.Ile393=)
c.1065T>C (p.Ile355=)
n.93T>C
n.317T>C
n.485T>C
1g.155235743A>TCA421020295GBA1c.1326T>A (p.Ile442=)
c.1179T>A (p.Ile393=)
c.1065T>A (p.Ile355=)
n.93T>A
n.317T>A
n.485T>A
1g.155235744dupCA2586967439GBA1c.1326dup (p.Val443CysfsTer26)
c.1179dup (p.Val394CysfsTer26)
c.1065dup (p.Val356CysfsTer26)
n.93dup
n.317dup
n.485dup
1g.155235743_155235745delCA2481201685GBA1c.1324_1326del (p.Ile442del)
c.1177_1179del (p.Ile393del)
c.1063_1065del (p.Ile355del)
n.91_93del
n.315_317del
n.483_485del
 dbSNP
1g.155235744A=CA2481201686GBA1c.1325T= (p.Ile442=)
c.1178T= (p.Ile393=)
c.1064T= (p.Ile355=)
n.92T=
n.316T=
n.484T=
1g.155235744A>CCA342713034GBA1c.1325T>G (p.Ile442Ser)
c.1178T>G (p.Ile393Ser)
c.1064T>G (p.Ile355Ser)
n.92T>G
n.316T>G
n.484T>G
1g.155235744A>GCA342713036GBA1c.1325T>C (p.Ile442Thr)
c.1178T>C (p.Ile393Thr)
c.1064T>C (p.Ile355Thr)
n.92T>C
n.316T>C
n.484T>C
 dbSNP gnomAD v2 gnomAD v4
1g.155235744A>TCA342713028GBA1c.1325T>A (p.Ile442Asn)
c.1178T>A (p.Ile393Asn)
c.1064T>A (p.Ile355Asn)
n.92T>A
n.316T>A
n.484T>A
1g.155235745T>ACA342713039GBA1c.1324A>T (p.Ile442Phe)
c.1177A>T (p.Ile393Phe)
c.1063A>T (p.Ile355Phe)
n.91A>T
n.315A>T
n.483A>T
1g.155235745T>CCA342713043GBA1c.1324A>G (p.Ile442Val)
c.1177A>G (p.Ile393Val)
c.1063A>G (p.Ile355Val)
n.91A>G
n.315A>G
n.483A>G
1g.155235745T>GCA342713049GBA1c.1324A>C (p.Ile442Leu)
c.1177A>C (p.Ile393Leu)
c.1063A>C (p.Ile355Leu)
n.91A>C
n.315A>C
n.483A>C
1g.155235746G>ACA421020300GBA1c.1323C>T (p.Ile441=)
c.1176C>T (p.Ile392=)
c.1062C>T (p.Ile354=)
n.90C>T
n.314C>T
n.482C>T
1g.155235746G>CCA30894468GBA1c.1323C>G (p.Ile441Met)
c.1176C>G (p.Ile392Met)
c.1062C>G (p.Ile354Met)
n.90C>G
n.314C>G
n.482C>G
 dbSNP gnomAD v4
1g.155235746G=CA2481201687GBA1c.1323C= (p.Ile441=)
c.1176C= (p.Ile392=)
c.1062C= (p.Ile354=)
n.90C=
n.314C=
n.482C=
1g.155235746G>TCA421020301GBA1c.1323C>A (p.Ile441=)
c.1176C>A (p.Ile392=)
c.1062C>A (p.Ile354=)
n.90C>A
n.314C>A
n.482C>A
 gnomAD v4
1g.155235747A=CA1140949629GBA1c.1322T= (p.Ile441=)
c.1175T= (p.Ile392=)
c.1061T= (p.Ile354=)
n.89T=
n.313T=
n.481T=
1g.155235747A>CCA342713096GBA1c.1322T>G (p.Ile441Ser)
c.1175T>G (p.Ile392Ser)
c.1061T>G (p.Ile354Ser)
n.89T>G
n.313T>G
n.481T>G
 gnomAD v4
1g.155235747A>GCA30894469GBA1c.1322T>C (p.Ile441Thr)
c.1175T>C (p.Ile392Thr)
c.1061T>C (p.Ile354Thr)
n.89T>C
n.313T>C
n.481T>C
 dbSNP gnomAD v4
1g.155235747A>TCA342713079GBA1c.1322T>A (p.Ile441Asn)
c.1175T>A (p.Ile392Asn)
c.1061T>A (p.Ile354Asn)
n.89T>A
n.313T>A
n.481T>A
1g.155235748T>ACA342713104GBA1c.1321A>T (p.Ile441Phe)
c.1174A>T (p.Ile392Phe)
c.1060A>T (p.Ile354Phe)
n.88A>T
n.312A>T
n.480A>T
 gnomAD v4
1g.155235748T>CCA342713107GBA1c.1321A>G (p.Ile441Val)
c.1174A>G (p.Ile392Val)
c.1060A>G (p.Ile354Val)
n.88A>G
n.312A>G
n.480A>G
1g.155235748T>GCA342713113GBA1c.1321A>C (p.Ile441Leu)
c.1174A>C (p.Ile392Leu)
c.1060A>C (p.Ile354Leu)
n.88A>C
n.312A>C
n.480A>C
1g.155235749G>ACA421020308GBA1c.1320C>T (p.Pro440=)
c.1173C>T (p.Pro391=)
c.1059C>T (p.Pro353=)
n.87C>T
n.311C>T
n.479C>T
 dbSNP gnomAD v4 COSMIC
1g.155235749G>CCA421020305GBA1c.1320C>G (p.Pro440=)
c.1173C>G (p.Pro391=)
c.1059C>G (p.Pro353=)
n.87C>G
n.311C>G
n.479C>G
1g.155235749G=CA2481201689GBA1c.1320C= (p.Pro440=)
c.1173C= (p.Pro391=)
c.1059C= (p.Pro353=)
n.87C=
n.311C=
n.479C=
1g.155235749G>TCA421020307GBA1c.1320C>A (p.Pro440=)
c.1173C>A (p.Pro391=)
c.1059C>A (p.Pro353=)
n.87C>A
n.311C>A
n.479C>A
1g.155235749_155235804delinsGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAACA2481201688GBA1c.1265_1320delinsTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC (p.Leu422=)
c.1118_1173delinsTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC (p.Leu373=)
c.1004_1059delinsTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC (p.Leu335=)
n.32_87delinsTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC
n.256_311delinsTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC
n.424_479delinsTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC
1g.155235751_155235806delCA2573051379GBA1c.1265_1320del (p.Leu422HisfsTer28)
c.1118_1173del (p.Leu373HisfsTer28)
c.1004_1059del (p.Leu335HisfsTer28)
n.32_87del
n.256_311del
n.424_479del
 ClinVar dbSNP
1g.155235750G>ACA253103GBA1c.1319C>T (p.Pro440Leu)
c.1172C>T (p.Pro391Leu)
c.1058C>T (p.Pro353Leu)
n.86C>T
n.310C>T
n.478C>T
 ClinVar dbSNP COSMIC
1g.155235750G>CCA342713122GBA1c.1319C>G (p.Pro440Arg)
c.1172C>G (p.Pro391Arg)
c.1058C>G (p.Pro353Arg)
n.86C>G
n.310C>G
n.478C>G
1g.155235750G=CA1140900752GBA1c.1319C= (p.Pro440=)
c.1172C= (p.Pro391=)
c.1058C= (p.Pro353=)
n.86C=
n.310C=
n.478C=
1g.155235750G>TCA342713128GBA1c.1319C>A (p.Pro440His)
c.1172C>A (p.Pro391His)
c.1058C>A (p.Pro353His)
n.86C>A
n.310C>A
n.478C>A
1g.155235750_155235806delinsGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGCA1141188037GBA1c.1263_1319delinsCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC (p.Asn421=)
c.1116_1172delinsCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC (p.Asn372=)
c.1002_1058delinsCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC (p.Asn334=)
n.30_86delinsCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC
n.254_310delinsCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC
n.422_478delinsCCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCC
1g.155235752_155235806delCA253083GBA1c.1265_1319del (p.Leu422ProfsTer4)
c.1118_1172del (p.Leu373ProfsTer4)
c.1004_1058del (p.Leu335ProfsTer4)
n.32_86del
n.256_310del
n.424_478del
 ClinVar dbSNP
1g.155235752_155235833delCA2586967440GBA1c.1238_1319del (p.His413ProfsTer4)
c.1091_1172del (p.His364ProfsTer4)
c.977_1058del (p.His326ProfsTer4)
n.5_86del
n.229_310del
n.397_478del
1g.155235751G>ACA1141555GBA1c.1318C>T (p.Pro440Ser)
c.1171C>T (p.Pro391Ser)
c.1057C>T (p.Pro353Ser)
n.85C>T
n.309C>T
n.477C>T
 dbSNP ExAC gnomAD v2
1g.155235751G>CCA342713139GBA1c.1318C>G (p.Pro440Ala)
c.1171C>G (p.Pro391Ala)
c.1057C>G (p.Pro353Ala)
n.85C>G
n.309C>G
n.477C>G
1g.155235751G=CA2481201690GBA1c.1318C= (p.Pro440=)
c.1171C= (p.Pro391=)
c.1057C= (p.Pro353=)
n.85C=
n.309C=
n.477C=
1g.155235751G>TCA342713136GBA1c.1318C>A (p.Pro440Thr)
c.1171C>A (p.Pro391Thr)
c.1057C>A (p.Pro353Thr)
n.85C>A
n.309C>A
n.477C>A
1g.155235752A>CCA342713141GBA1c.1317T>G (p.Ser439Arg)
c.1170T>G (p.Ser390Arg)
c.1056T>G (p.Ser352Arg)
n.84T>G
n.308T>G
n.476T>G
1g.155235752A>GCA421020310GBA1c.1317T>C (p.Ser439=)
c.1170T>C (p.Ser390=)
c.1056T>C (p.Ser352=)
n.84T>C
n.308T>C
n.476T>C
 gnomAD v4
1g.155235752A>TCA342713143GBA1c.1317T>A (p.Ser439Arg)
c.1170T>A (p.Ser390Arg)
c.1056T>A (p.Ser352Arg)
n.84T>A
n.308T>A
n.476T>A
1g.155235753C>ACA342713153GBA1c.1316G>T (p.Ser439Ile)
c.1169G>T (p.Ser390Ile)
c.1055G>T (p.Ser352Ile)
n.83G>T
n.307G>T
n.475G>T
1g.155235753C=CA2481201691GBA1c.1316G= (p.Ser439=)
c.1169G= (p.Ser390=)
c.1055G= (p.Ser352=)
n.83G=
n.307G=
n.475G=
1g.155235753C>GCA342713174GBA1c.1316G>C (p.Ser439Thr)
c.1169G>C (p.Ser390Thr)
c.1055G>C (p.Ser352Thr)
n.83G>C
n.307G>C
n.475G>C
1g.155235753C>TCA342713181GBA1c.1316G>A (p.Ser439Asn)
c.1169G>A (p.Ser390Asn)
c.1055G>A (p.Ser352Asn)
n.83G>A
n.307G>A
n.475G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.155235754T>ACA342713185GBA1c.1315A>T (p.Ser439Cys)
c.1168A>T (p.Ser390Cys)
c.1054A>T (p.Ser352Cys)
n.82A>T
n.306A>T
n.474A>T
1g.155235754T>CCA342713186GBA1c.1315A>G (p.Ser439Gly)
c.1168A>G (p.Ser390Gly)
c.1054A>G (p.Ser352Gly)
n.82A>G
n.306A>G
n.474A>G
1g.155235754T>GCA342713188GBA1c.1315A>C (p.Ser439Arg)
c.1168A>C (p.Ser390Arg)
c.1054A>C (p.Ser352Arg)
n.82A>C
n.306A>C
n.474A>C
1g.155235755G>ACA1141556GBA1c.1314C>T (p.Asp438=)
c.1167C>T (p.Asp389=)
c.1053C>T (p.Asp351=)
n.81C>T
n.305C>T
n.473C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155235755G>CCA30894478GBA1c.1314C>G (p.Asp438Glu)
c.1167C>G (p.Asp389Glu)
c.1053C>G (p.Asp351Glu)
n.81C>G
n.305C>G
n.473C>G
 dbSNP
1g.155235755G=CA1140925642GBA1c.1314C= (p.Asp438=)
c.1167C= (p.Asp389=)
c.1053C= (p.Asp351=)
n.81C=
n.305C=
n.473C=
1g.155235755G>TCA342713200GBA1c.1314C>A (p.Asp438Glu)
c.1167C>A (p.Asp389Glu)
c.1053C>A (p.Asp351Glu)
n.81C>A
n.305C>A
n.473C>A
1g.155235756T>ACA342713212GBA1c.1313A>T (p.Asp438Val)
c.1166A>T (p.Asp389Val)
c.1052A>T (p.Asp351Val)
n.80A>T
n.304A>T
n.472A>T
1g.155235756T>CCA342713216GBA1c.1313A>G (p.Asp438Gly)
c.1166A>G (p.Asp389Gly)
c.1052A>G (p.Asp351Gly)
n.80A>G
n.304A>G
n.472A>G
1g.155235756T>GCA342713219GBA1c.1313A>C (p.Asp438Ala)
c.1166A>C (p.Asp389Ala)
c.1052A>C (p.Asp351Ala)
n.80A>C
n.304A>C
n.472A>C
1g.155235757C>ACA342713235GBA1c.1312G>T (p.Asp438Tyr)
c.1165G>T (p.Asp389Tyr)
c.1051G>T (p.Asp351Tyr)
n.79G>T
n.303G>T
n.471G>T
 ClinVar
1g.155235757C=CA2481201692GBA1c.1312G= (p.Asp438=)
c.1165G= (p.Asp389=)
c.1051G= (p.Asp351=)
n.79G=
n.303G=
n.471G=
1g.155235757C>GCA342713226GBA1c.1312G>C (p.Asp438His)
c.1165G>C (p.Asp389His)
c.1051G>C (p.Asp351His)
n.79G>C
n.303G>C
n.471G>C
 ClinVar dbSNP
1g.155235757C>TCA342713229GBA1c.1312G>A (p.Asp438Asn)
c.1165G>A (p.Asp389Asn)
c.1051G>A (p.Asp351Asn)
n.79G>A
n.303G>A
n.471G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.155235758G>ACA1141557GBA1c.1311C>T (p.Val437=)
c.1164C>T (p.Val388=)
c.1050C>T (p.Val350=)
n.78C>T
n.302C>T
n.470C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.155235758G>CCA30894482GBA1c.1311C>G (p.Val437=)
c.1164C>G (p.Val388=)
c.1050C>G (p.Val350=)
n.78C>G
n.302C>G
n.470C>G
 dbSNP gnomAD v4
1g.155235758G=CA1141122424GBA1c.1311C= (p.Val437=)
c.1164C= (p.Val388=)
c.1050C= (p.Val350=)
n.78C=
n.302C=
n.470C=
1g.155235758G>TCA30894485GBA1c.1311C>A (p.Val437=)
c.1164C>A (p.Val388=)
c.1050C>A (p.Val350=)
n.78C>A
n.302C>A
n.470C>A
 dbSNP
1g.155235759A>CCA342713247GBA1c.1310T>G (p.Val437Gly)
c.1163T>G (p.Val388Gly)
c.1049T>G (p.Val350Gly)
n.77T>G
n.301T>G
n.469T>G
1g.155235759A>GCA342713251GBA1c.1310T>C (p.Val437Ala)
c.1163T>C (p.Val388Ala)
c.1049T>C (p.Val350Ala)
n.77T>C
n.301T>C
n.469T>C
1g.155235759A>TCA342713253GBA1c.1310T>A (p.Val437Asp)
c.1163T>A (p.Val388Asp)
c.1049T>A (p.Val350Asp)
n.77T>A
n.301T>A
n.469T>A
1g.155235760delCA2586967441GBA1c.1309del (p.Val437SerfsTer7)
c.1162del (p.Val388SerfsTer7)
c.1048del (p.Val350SerfsTer7)
n.76del
n.300del
n.468del
1g.155235760C>ACA253069GBA1c.1309G>T (p.Val437Phe)
c.1162G>T (p.Val388Phe)
c.1048G>T (p.Val350Phe)
n.76G>T
n.300G>T
n.468G>T
 ClinVar dbSNP COSMIC
1g.155235760C=CA1141581077GBA1c.1309G= (p.Val437=)
c.1162G= (p.Val388=)
c.1048G= (p.Val350=)
n.76G=
n.300G=
n.468G=
1g.155235760C>GCA342713274GBA1c.1309G>C (p.Val437Leu)
c.1162G>C (p.Val388Leu)
c.1048G>C (p.Val350Leu)
n.76G>C
n.300G>C
n.468G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.155235760C>TCA342713276GBA1c.1309G>A (p.Val437Ile)
c.1162G>A (p.Val388Ile)
c.1048G>A (p.Val350Ile)
n.76G>A
n.300G>A
n.468G>A
1g.155235761A=CA2481201693GBA1c.1308T= (p.Phe436=)
c.1161T= (p.Phe387=)
c.1047T= (p.Phe349=)
n.75T=
n.299T=
n.467T=
1g.155235761A>CCA342713280GBA1c.1308T>G (p.Phe436Leu)
c.1161T>G (p.Phe387Leu)
c.1047T>G (p.Phe349Leu)
n.75T>G
n.299T>G
n.467T>G
1g.155235761A>GCA421020317GBA1c.1308T>C (p.Phe436=)
c.1161T>C (p.Phe387=)
c.1047T>C (p.Phe349=)
n.75T>C
n.299T>C
n.467T>C
1g.155235761A>TCA342713300GBA1c.1308T>A (p.Phe436Leu)
c.1161T>A (p.Phe387Leu)
c.1047T>A (p.Phe349Leu)
n.75T>A
n.299T>A
n.467T>A
 dbSNP
1g.155235762A=CA1140933546GBA1c.1307T= (p.Phe436=)
c.1160T= (p.Phe387=)
c.1046T= (p.Phe349=)
n.74T=
n.298T=
n.466T=
1g.155235762A>CCA342713307GBA1c.1307T>G (p.Phe436Cys)
c.1160T>G (p.Phe387Cys)
c.1046T>G (p.Phe349Cys)
n.74T>G
n.298T>G
n.466T>G
1g.155235762A>GCA30894487GBA1c.1307T>C (p.Phe436Ser)
c.1160T>C (p.Phe387Ser)
c.1046T>C (p.Phe349Ser)
n.74T>C
n.298T>C
n.466T>C
 ClinVar dbSNP gnomAD v4
1g.155235762A>TCA342713304GBA1c.1307T>A (p.Phe436Tyr)
c.1160T>A (p.Phe387Tyr)
c.1046T>A (p.Phe349Tyr)
n.74T>A
n.298T>A
n.466T>A
1g.155235763A>CCA342713323GBA1c.1306T>G (p.Phe436Val)
c.1159T>G (p.Phe387Val)
c.1045T>G (p.Phe349Val)
n.73T>G
n.297T>G
n.465T>G
1g.155235763A>GCA342713328GBA1c.1306T>C (p.Phe436Leu)
c.1159T>C (p.Phe387Leu)
c.1045T>C (p.Phe349Leu)
n.73T>C
n.297T>C
n.465T>C
1g.155235763A>TCA342713329GBA1c.1306T>A (p.Phe436Ile)
c.1159T>A (p.Phe387Ile)
c.1045T>A (p.Phe349Ile)
n.73T>A
n.297T>A
n.465T>A
1g.155235764G>ACA1141559GBA1c.1305C>T (p.Asn435=)
c.1158C>T (p.Asn386=)
c.1044C>T (p.Asn348=)
n.72C>T
n.296C>T
n.464C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.155235764G>CCA1141558GBA1c.1305C>G (p.Asn435Lys)
c.1158C>G (p.Asn386Lys)
c.1044C>G (p.Asn348Lys)
n.72C>G
n.296C>G
n.464C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155235764G=CA2481201694GBA1c.1305C= (p.Asn435=)
c.1158C= (p.Asn386=)
c.1044C= (p.Asn348=)
n.72C=
n.296C=
n.464C=
1g.155235764G>TCA342713330GBA1c.1305C>A (p.Asn435Lys)
c.1158C>A (p.Asn386Lys)
c.1044C>A (p.Asn348Lys)
n.72C>A
n.296C>A
n.464C>A
1g.155235765T>ACA342713332GBA1c.1304A>T (p.Asn435Ile)
c.1157A>T (p.Asn386Ile)
c.1043A>T (p.Asn348Ile)
n.71A>T
n.295A>T
n.463A>T
1g.155235765T>CCA342713337GBA1c.1304A>G (p.Asn435Ser)
c.1157A>G (p.Asn386Ser)
c.1043A>G (p.Asn348Ser)
n.71A>G
n.295A>G
n.463A>G
1g.155235765T>GCA30894493GBA1c.1304A>C (p.Asn435Thr)
c.1157A>C (p.Asn386Thr)
c.1043A>C (p.Asn348Thr)
n.71A>C
n.295A>C
n.463A>C
 dbSNP
1g.155235765T=CA1140940955GBA1c.1304A= (p.Asn435=)
c.1157A= (p.Asn386=)
c.1043A= (p.Asn348=)
n.71A=
n.295A=
n.463A=
1g.155235766T>ACA342713343GBA1c.1303A>T (p.Asn435Tyr)
c.1156A>T (p.Asn386Tyr)
c.1042A>T (p.Asn348Tyr)
n.70A>T
n.294A>T
n.462A>T
1g.155235766T>CCA342713345GBA1c.1303A>G (p.Asn435Asp)
c.1156A>G (p.Asn386Asp)
c.1042A>G (p.Asn348Asp)
n.70A>G
n.294A>G
n.462A>G
1g.155235766T>GCA342713350GBA1c.1303A>C (p.Asn435His)
c.1156A>C (p.Asn386His)
c.1042A>C (p.Asn348His)
n.70A>C
n.294A>C
n.462A>C
 gnomAD v4
1g.155235767A=CA2481201695GBA1c.1302T= (p.Arg434=)
c.1155T= (p.Arg385=)
c.1041T= (p.Arg347=)
n.69T=
n.293T=
n.461T=
1g.155235767A>CCA421020319GBA1c.1302T>G (p.Arg434=)
c.1155T>G (p.Arg385=)
c.1041T>G (p.Arg347=)
n.69T>G
n.293T>G
n.461T>G
1g.155235767A>GCA1141560GBA1c.1302T>C (p.Arg434=)
c.1155T>C (p.Arg385=)
c.1041T>C (p.Arg347=)
n.69T>C
n.293T>C
n.461T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155235767A>TCA421020320GBA1c.1302T>A (p.Arg434=)
c.1155T>A (p.Arg385=)
c.1041T>A (p.Arg347=)
n.69T>A
n.293T>A
n.461T>A
 ClinVar dbSNP
1g.155235768C>ACA342713358GBA1c.1301G>T (p.Arg434Leu)
c.1154G>T (p.Arg385Leu)
c.1040G>T (p.Arg347Leu)
n.68G>T
n.292G>T
n.460G>T
 COSMIC
1g.155235768C=CA2481201696GBA1c.1301G= (p.Arg434=)
c.1154G= (p.Arg385=)
c.1040G= (p.Arg347=)
n.68G=
n.292G=
n.460G=
1g.155235768C>GCA342713357GBA1c.1301G>C (p.Arg434Pro)
c.1154G>C (p.Arg385Pro)
c.1040G>C (p.Arg347Pro)
n.68G>C
n.292G>C
n.460G>C
 dbSNP
1g.155235768C>TCA1141561GBA1c.1301G>A (p.Arg434His)
c.1154G>A (p.Arg385His)
c.1040G>A (p.Arg347His)
n.68G>A
n.292G>A
n.460G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155235769G>ACA342713359GBA1c.1300C>T (p.Arg434Cys)
c.1153C>T (p.Arg385Cys)
c.1039C>T (p.Arg347Cys)
n.67C>T
n.291C>T
n.459C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.155235769G>CCA1141562GBA1c.1300C>G (p.Arg434Gly)
c.1153C>G (p.Arg385Gly)
c.1039C>G (p.Arg347Gly)
n.67C>G
n.291C>G
n.459C>G
 dbSNP ExAC gnomAD v2
1g.155235769G=CA1148450077GBA1c.1300C= (p.Arg434=)
c.1153C= (p.Arg385=)
c.1039C= (p.Arg347=)
n.67C=
n.291C=
n.459C=
1g.155235769G>TCA342713367GBA1c.1300C>A (p.Arg434Ser)
c.1153C>A (p.Arg385Ser)
c.1039C>A (p.Arg347Ser)
n.67C>A
n.291C>A
n.459C>A
 gnomAD v4
1g.155235770C>ACA421020326GBA1c.1299G>T (p.Val433=)
c.1152G>T (p.Val384=)
c.1038G>T (p.Val346=)
n.66G>T
n.290G>T
n.458G>T
1g.155235770C>GCA421020324GBA1c.1299G>C (p.Val433=)
c.1152G>C (p.Val384=)
c.1038G>C (p.Val346=)
n.66G>C
n.290G>C
n.458G>C
1g.155235770C>TCA421020325GBA1c.1299G>A (p.Val433=)
c.1152G>A (p.Val384=)
c.1038G>A (p.Val346=)
n.66G>A
n.290G>A
n.458G>A
 gnomAD v4
1g.155235771A>CCA342713373GBA1c.1298T>G (p.Val433Gly)
c.1151T>G (p.Val384Gly)
c.1037T>G (p.Val346Gly)
n.65T>G
n.289T>G
n.457T>G
1g.155235771A>GCA342713377GBA1c.1298T>C (p.Val433Ala)
c.1151T>C (p.Val384Ala)
c.1037T>C (p.Val346Ala)
n.65T>C
n.289T>C
n.457T>C
 gnomAD v4
1g.155235771A>TCA342713379GBA1c.1298T>A (p.Val433Glu)
c.1151T>A (p.Val384Glu)
c.1037T>A (p.Val346Glu)
n.65T>A
n.289T>A
n.457T>A
1g.155235772C>ACA253059GBA1c.1297G>T (p.Val433Leu)
c.1150G>T (p.Val384Leu)
c.1036G>T (p.Val346Leu)
n.64G>T
n.288G>T
n.456G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155235772C=CA1141188038GBA1c.1297G= (p.Val433=)
c.1150G= (p.Val384=)
c.1036G= (p.Val346=)
n.64G=
n.288G=
n.456G=
1g.155235772C>GCA342713384GBA1c.1297G>C (p.Val433Leu)
c.1150G>C (p.Val384Leu)
c.1036G>C (p.Val346Leu)
n.64G>C
n.288G>C
n.456G>C
1g.155235772C>TCA342713395GBA1c.1297G>A (p.Val433Met)
c.1150G>A (p.Val384Met)
c.1036G>A (p.Val346Met)
n.64G>A
n.288G>A
n.456G>A
1g.155235773C>ACA342713409GBA1c.1296G>T (p.Trp432Cys)
c.1149G>T (p.Trp383Cys)
c.1035G>T (p.Trp345Cys)
n.63G>T
n.287G>T
n.455G>T
1g.155235773C=CA2481201697GBA1c.1296G= (p.Trp432=)
c.1149G= (p.Trp383=)
c.1035G= (p.Trp345=)
n.63G=
n.287G=
n.455G=
1g.155235773C>GCA342713413GBA1c.1296G>C (p.Trp432Cys)
c.1149G>C (p.Trp383Cys)
c.1035G>C (p.Trp345Cys)
n.63G>C
n.287G>C
n.455G>C
1g.155235773C>TCA342713418GBA1c.1296G>A (p.Trp432Ter)
c.1149G>A (p.Trp383Ter)
c.1035G>A (p.Trp345Ter)
n.63G>A
n.287G>A
n.455G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.155235774C>ACA342713433GBA1c.1295G>T (p.Trp432Leu)
c.1148G>T (p.Trp383Leu)
c.1034G>T (p.Trp345Leu)
n.62G>T
n.286G>T
n.454G>T
1g.155235774C>GCA342713458GBA1c.1295G>C (p.Trp432Ser)
c.1148G>C (p.Trp383Ser)
c.1034G>C (p.Trp345Ser)
n.62G>C
n.286G>C
n.454G>C
 gnomAD v4
1g.155235774C>TCA342713453GBA1c.1295G>A (p.Trp432Ter)
c.1148G>A (p.Trp383Ter)
c.1034G>A (p.Trp345Ter)
n.62G>A
n.286G>A
n.454G>A
1g.155235775A=CA2481201698GBA1c.1294T= (p.Trp432=)
c.1147T= (p.Trp383=)
c.1033T= (p.Trp345=)
n.61T=
n.285T=
n.453T=
1g.155235775A>CCA342713462GBA1c.1294T>G (p.Trp432Gly)
c.1147T>G (p.Trp383Gly)
c.1033T>G (p.Trp345Gly)
n.61T>G
n.285T>G
n.453T>G
1g.155235775A>GCA342713484GBA1c.1294T>C (p.Trp432Arg)
c.1147T>C (p.Trp383Arg)
c.1033T>C (p.Trp345Arg)
n.61T>C
n.285T>C
n.453T>C
1g.155235775A>TCA342713466GBA1c.1294T>A (p.Trp432Arg)
c.1147T>A (p.Trp383Arg)
c.1033T>A (p.Trp345Arg)
n.61T>A
n.285T>A
n.453T>A
 ClinVar dbSNP gnomAD v4
1g.155235776A=CA2481201699GBA1c.1293T= (p.Asn431=)
c.1146T= (p.Asn382=)
c.1032T= (p.Asn344=)
n.60T=
n.284T=
n.452T=
1g.155235776A>CCA342713489GBA1c.1293T>G (p.Asn431Lys)
c.1146T>G (p.Asn382Lys)
c.1032T>G (p.Asn344Lys)
n.60T>G
n.284T>G
n.452T>G
1g.155235776A>GCA1141563GBA1c.1293T>C (p.Asn431=)
c.1146T>C (p.Asn382=)
c.1032T>C (p.Asn344=)
n.60T>C
n.284T>C
n.452T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155235776A>TCA342713492GBA1c.1293T>A (p.Asn431Lys)
c.1146T>A (p.Asn382Lys)
c.1032T>A (p.Asn344Lys)
n.60T>A
n.284T>A
n.452T>A
1g.155235777T>ACA30894498GBA1c.1292A>T (p.Asn431Ile)
c.1145A>T (p.Asn382Ile)
c.1031A>T (p.Asn344Ile)
n.59A>T
n.283A>T
n.451A>T
 dbSNP
1g.155235777T>CCA1141564GBA1c.1292A>G (p.Asn431Ser)
c.1145A>G (p.Asn382Ser)
c.1031A>G (p.Asn344Ser)
n.59A>G
n.283A>G
n.451A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155235777T>GCA342713512GBA1c.1292A>C (p.Asn431Thr)
c.1145A>C (p.Asn382Thr)
c.1031A>C (p.Asn344Thr)
n.59A>C
n.283A>C
n.451A>C
 dbSNP
1g.155235777T=CA1141057797GBA1c.1292A= (p.Asn431=)
c.1145A= (p.Asn382=)
c.1031A= (p.Asn344=)
n.59A=
n.283A=
n.451A=
1g.155235778T>ACA342713514GBA1c.1291A>T (p.Asn431Tyr)
c.1144A>T (p.Asn382Tyr)
c.1030A>T (p.Asn344Tyr)
n.58A>T
n.282A>T
n.450A>T
1g.155235778T>CCA342713515GBA1c.1291A>G (p.Asn431Asp)
c.1144A>G (p.Asn382Asp)
c.1030A>G (p.Asn344Asp)
n.58A>G
n.282A>G
n.450A>G
1g.155235778T>GCA342713516GBA1c.1291A>C (p.Asn431His)
c.1144A>C (p.Asn382His)
c.1030A>C (p.Asn344His)
n.58A>C
n.282A>C
n.450A>C
1g.155235779G>ACA421020330GBA1c.1290C>T (p.Pro430=)
c.1143C>T (p.Pro381=)
c.1029C>T (p.Pro343=)
n.57C>T
n.281C>T
n.449C>T
 ClinVar dbSNP gnomAD v4
1g.155235779G>CCA421020331GBA1c.1290C>G (p.Pro430=)
c.1143C>G (p.Pro381=)
c.1029C>G (p.Pro343=)
n.57C>G
n.281C>G
n.449C>G
1g.155235779G=CA2481201700GBA1c.1290C= (p.Pro430=)
c.1143C= (p.Pro381=)
c.1029C= (p.Pro343=)
n.57C=
n.281C=
n.449C=
1g.155235779G>TCA421020332GBA1c.1290C>A (p.Pro430=)
c.1143C>A (p.Pro381=)
c.1029C>A (p.Pro343=)
n.57C>A
n.281C>A
n.449C>A
1g.155235780G>ACA30894500GBA1c.1289C>T (p.Pro430Leu)
c.1142C>T (p.Pro381Leu)
c.1028C>T (p.Pro343Leu)
n.56C>T
n.280C>T
n.448C>T
 ClinVar dbSNP gnomAD v4
1g.155235780G>CCA342713521GBA1c.1289C>G (p.Pro430Arg)
c.1142C>G (p.Pro381Arg)
c.1028C>G (p.Pro343Arg)
n.56C>G
n.280C>G
n.448C>G
1g.155235780G=CA1141017487GBA1c.1289C= (p.Pro430=)
c.1142C= (p.Pro381=)
c.1028C= (p.Pro343=)
n.56C=
n.280C=
n.448C=
1g.155235780G>TCA342713523GBA1c.1289C>A (p.Pro430His)
c.1142C>A (p.Pro381His)
c.1028C>A (p.Pro343His)
n.56C>A
n.280C>A
n.448C>A
1g.155235781G>ACA342713525GBA1c.1288C>T (p.Pro430Ser)
c.1141C>T (p.Pro381Ser)
c.1027C>T (p.Pro343Ser)
n.55C>T
n.279C>T
n.447C>T
1g.155235781G>CCA342713527GBA1c.1288C>G (p.Pro430Ala)
c.1141C>G (p.Pro381Ala)
c.1027C>G (p.Pro343Ala)
n.55C>G
n.279C>G
n.447C>G
 gnomAD v4
1g.155235781G>TCA342713529GBA1c.1288C>A (p.Pro430Thr)
c.1141C>A (p.Pro381Thr)
c.1027C>A (p.Pro343Thr)
n.55C>A
n.279C>A
n.447C>A
1g.155235782T>ACA421020335GBA1c.1287A>T (p.Gly429=)
c.1140A>T (p.Gly380=)
c.1026A>T (p.Gly342=)
n.54A>T
n.278A>T
n.446A>T
 gnomAD v4
1g.155235782T>CCA421020337GBA1c.1287A>G (p.Gly429=)
c.1140A>G (p.Gly380=)
c.1026A>G (p.Gly342=)
n.54A>G
n.278A>G
n.446A>G
1g.155235782T>GCA421020339GBA1c.1287A>C (p.Gly429=)
c.1140A>C (p.Gly380=)
c.1026A>C (p.Gly342=)
n.54A>C
n.278A>C
n.446A>C
1g.155235783C>ACA342713544GBA1c.1286G>T (p.Gly429Val)
c.1139G>T (p.Gly380Val)
c.1025G>T (p.Gly342Val)
n.53G>T
n.277G>T
n.445G>T
1g.155235783C>GCA342713535GBA1c.1286G>C (p.Gly429Ala)
c.1139G>C (p.Gly380Ala)
c.1025G>C (p.Gly342Ala)
n.53G>C
n.277G>C
n.445G>C
1g.155235783C>TCA342713536GBA1c.1286G>A (p.Gly429Glu)
c.1139G>A (p.Gly380Glu)
c.1025G>A (p.Gly342Glu)
n.53G>A
n.277G>A
n.445G>A
1g.155235784C>ACA342713545GBA1c.1285G>T (p.Gly429Ter)
c.1138G>T (p.Gly380Ter)
c.1024G>T (p.Gly342Ter)
n.52G>T
n.276G>T
n.444G>T
1g.155235784C>GCA342713550GBA1c.1285G>C (p.Gly429Arg)
c.1138G>C (p.Gly380Arg)
c.1024G>C (p.Gly342Arg)
n.52G>C
n.276G>C
n.444G>C
1g.155235784C>TCA342713553GBA1c.1285G>A (p.Gly429Arg)
c.1138G>A (p.Gly380Arg)
c.1024G>A (p.Gly342Arg)
n.52G>A
n.276G>A
n.444G>A
1g.155235785T>ACA421020343GBA1c.1284A>T (p.Gly428=)
c.1137A>T (p.Gly379=)
c.1023A>T (p.Gly341=)
n.51A>T
n.275A>T
n.443A>T
1g.155235785T>CCA421020344GBA1c.1284A>G (p.Gly428=)
c.1137A>G (p.Gly379=)
c.1023A>G (p.Gly341=)
n.51A>G
n.275A>G
n.443A>G
 gnomAD v4
1g.155235785T>GCA421020345GBA1c.1284A>C (p.Gly428=)
c.1137A>C (p.Gly379=)
c.1023A>C (p.Gly341=)
n.51A>C
n.275A>C
n.443A>C
 ClinVar dbSNP
1g.155235786C>ACA342713554GBA1c.1283G>T (p.Gly428Val)
c.1136G>T (p.Gly379Val)
c.1022G>T (p.Gly341Val)
n.50G>T
n.274G>T
n.442G>T
1g.155235786C>GCA342713555GBA1c.1283G>C (p.Gly428Ala)
c.1136G>C (p.Gly379Ala)
c.1022G>C (p.Gly341Ala)
n.50G>C
n.274G>C
n.442G>C
1g.155235786C>TCA342713556GBA1c.1283G>A (p.Gly428Glu)
c.1136G>A (p.Gly379Glu)
c.1022G>A (p.Gly341Glu)
n.50G>A
n.274G>A
n.442G>A
1g.155235787C>ACA342713557GBA1c.1282G>T (p.Gly428Ter)
c.1135G>T (p.Gly379Ter)
c.1021G>T (p.Gly341Ter)
n.49G>T
n.273G>T
n.441G>T
 gnomAD v4
1g.155235787C>GCA342713559GBA1c.1282G>C (p.Gly428Arg)
c.1135G>C (p.Gly379Arg)
c.1021G>C (p.Gly341Arg)
n.49G>C
n.273G>C
n.441G>C
1g.155235787C>TCA342713563GBA1c.1282G>A (p.Gly428Arg)
c.1135G>A (p.Gly379Arg)
c.1021G>A (p.Gly341Arg)
n.49G>A
n.273G>A
n.441G>A
 gnomAD v4
1g.155235788_155235790delCA2586967442GBA1c.1280_1282del (p.Glu427del)
c.1133_1135del (p.Glu378del)
c.1019_1021del (p.Glu340del)
n.47_49del
n.271_273del
n.439_441del
1g.155235788T>ACA342713567GBA1c.1281A>T (p.Glu427Asp)
c.1134A>T (p.Glu378Asp)
c.1020A>T (p.Glu340Asp)
n.48A>T
n.272A>T
n.440A>T
1g.155235788T>CCA421020349GBA1c.1281A>G (p.Glu427=)
c.1134A>G (p.Glu378=)
c.1020A>G (p.Glu340=)
n.48A>G
n.272A>G
n.440A>G
 ClinVar dbSNP
1g.155235788T>GCA342713568GBA1c.1281A>C (p.Glu427Asp)
c.1134A>C (p.Glu378Asp)
c.1020A>C (p.Glu340Asp)
n.48A>C
n.272A>C
n.440A>C
1g.155235788T=CA2481201701GBA1c.1281A= (p.Glu427=)
c.1134A= (p.Glu378=)
c.1020A= (p.Glu340=)
n.48A=
n.272A=
n.440A=
1g.155235789T>ACA342713572GBA1c.1280A>T (p.Glu427Val)
c.1133A>T (p.Glu378Val)
c.1019A>T (p.Glu340Val)
n.47A>T
n.271A>T
n.439A>T
 gnomAD v4
1g.155235789T>CCA342713570GBA1c.1280A>G (p.Glu427Gly)
c.1133A>G (p.Glu378Gly)
c.1019A>G (p.Glu340Gly)
n.47A>G
n.271A>G
n.439A>G
1g.155235789T>GCA342713569GBA1c.1280A>C (p.Glu427Ala)
c.1133A>C (p.Glu378Ala)
c.1019A>C (p.Glu340Ala)
n.47A>C
n.271A>C
n.439A>C
1g.155235789_155235790delinsCGGGGTTCAGGGCA2586967443GBA1c.1279_1280delinsCCCTGAACCCCG (p.Glu427ProfsTer2)
c.1132_1133delinsCCCTGAACCCCG (p.Glu378ProfsTer2)
c.1018_1019delinsCCCTGAACCCCG (p.Glu340ProfsTer2)
n.46_47delinsCCCTGAACCCCG
n.270_271delinsCCCTGAACCCCG
n.438_439delinsCCCTGAACCCCG
1g.155235790C>ACA342713575GBA1c.1279G>T (p.Glu427Ter)
c.1132G>T (p.Glu378Ter)
c.1018G>T (p.Glu340Ter)
n.46G>T
n.270G>T
n.438G>T
 ClinVar dbSNP
1g.155235790C=CA1142286131GBA1c.1279G= (p.Glu427=)
c.1132G= (p.Glu378=)
c.1018G= (p.Glu340=)
n.46G=
n.270G=
n.438G=
1g.155235790C>GCA342713573GBA1c.1279G>C (p.Glu427Gln)
c.1132G>C (p.Glu378Gln)
c.1018G>C (p.Glu340Gln)
n.46G>C
n.270G>C
n.438G>C
1g.155235790C>TCA1141565GBA1c.1279G>A (p.Glu427Lys)
c.1132G>A (p.Glu378Lys)
c.1018G>A (p.Glu340Lys)
n.46G>A
n.270G>A
n.438G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155235791G>ACA30894509GBA1c.1278C>T (p.Pro426=)
c.1131C>T (p.Pro377=)
c.1017C>T (p.Pro339=)
n.45C>T
n.269C>T
n.437C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.155235791G>CCA421020354GBA1c.1278C>G (p.Pro426=)
c.1131C>G (p.Pro377=)
c.1017C>G (p.Pro339=)
n.45C>G
n.269C>G
n.437C>G
 dbSNP gnomAD v3 gnomAD v4
1g.155235791G=CA1143487031GBA1c.1278C= (p.Pro426=)
c.1131C= (p.Pro377=)
c.1017C= (p.Pro339=)
n.45C=
n.269C=
n.437C=
1g.155235791G>TCA421020353GBA1c.1278C>A (p.Pro426=)
c.1131C>A (p.Pro377=)
c.1017C>A (p.Pro339=)
n.45C>A
n.269C>A
n.437C>A
1g.155235792G>ACA16044122GBA1c.1277C>T (p.Pro426Leu)
c.1130C>T (p.Pro377Leu)
c.1016C>T (p.Pro339Leu)
n.44C>T
n.268C>T
n.436C>T
 ClinVar dbSNP gnomAD v4 COSMIC
1g.155235792G>CCA342713593GBA1c.1277C>G (p.Pro426Arg)
c.1130C>G (p.Pro377Arg)
c.1016C>G (p.Pro339Arg)
n.44C>G
n.268C>G
n.436C>G
 gnomAD v4
1g.155235792G=CA2481201702GBA1c.1277C= (p.Pro426=)
c.1130C= (p.Pro377=)
c.1016C= (p.Pro339=)
n.44C=
n.268C=
n.436C=
1g.155235792G>TCA342713594GBA1c.1277C>A (p.Pro426His)
c.1130C>A (p.Pro377His)
c.1016C>A (p.Pro339His)
n.44C>A
n.268C>A
n.436C>A
1g.155235793G>ACA342713614GBA1c.1276C>T (p.Pro426Ser)
c.1129C>T (p.Pro377Ser)
c.1015C>T (p.Pro339Ser)
n.43C>T
n.267C>T
n.435C>T
 gnomAD v4
1g.155235793G>CCA342713599GBA1c.1276C>G (p.Pro426Ala)
c.1129C>G (p.Pro377Ala)
c.1015C>G (p.Pro339Ala)
n.43C>G
n.267C>G
n.435C>G
1g.155235793G>TCA342713602GBA1c.1276C>A (p.Pro426Thr)
c.1129C>A (p.Pro377Thr)
c.1015C>A (p.Pro339Thr)
n.43C>A
n.267C>A
n.435C>A
1g.155235794G>ACA421020358GBA1c.1275C>T (p.Asn425=)
c.1128C>T (p.Asn376=)
c.1014C>T (p.Asn338=)
n.42C>T
n.266C>T
n.434C>T
 dbSNP gnomAD v4
1g.155235794G>CCA342713626GBA1c.1275C>G (p.Asn425Lys)
c.1128C>G (p.Asn376Lys)
c.1014C>G (p.Asn338Lys)
n.42C>G
n.266C>G
n.434C>G
1g.155235794G=CA2481201703GBA1c.1275C= (p.Asn425=)
c.1128C= (p.Asn376=)
c.1014C= (p.Asn338=)
n.42C=
n.266C=
n.434C=
1g.155235794G>TCA30894515GBA1c.1275C>A (p.Asn425Lys)
c.1128C>A (p.Asn376Lys)
c.1014C>A (p.Asn338Lys)
n.42C>A
n.266C>A
n.434C>A
 ClinVar dbSNP gnomAD v4
1g.155235795T>ACA342713637GBA1c.1274A>T (p.Asn425Ile)
c.1127A>T (p.Asn376Ile)
c.1013A>T (p.Asn338Ile)
n.41A>T
n.265A>T
n.433A>T
1g.155235795T>CCA342713638GBA1c.1274A>G (p.Asn425Ser)
c.1127A>G (p.Asn376Ser)
c.1013A>G (p.Asn338Ser)
n.41A>G
n.265A>G
n.433A>G
1g.155235795T>GCA342713639GBA1c.1274A>C (p.Asn425Thr)
c.1127A>C (p.Asn376Thr)
c.1013A>C (p.Asn338Thr)
n.41A>C
n.265A>C
n.433A>C
1g.155235796dupCA421020360GBA1c.1274dup (p.Asn425LysfsTer11)
c.1127dup (p.Asn376LysfsTer11)
c.1013dup (p.Asn338LysfsTer11)
n.41dup
n.265dup
n.433dup
1g.155235796T>ACA342713640GBA1c.1273A>T (p.Asn425Tyr)
c.1126A>T (p.Asn376Tyr)
c.1012A>T (p.Asn338Tyr)
n.40A>T
n.264A>T
n.432A>T
1g.155235796T>CCA342713642GBA1c.1273A>G (p.Asn425Asp)
c.1126A>G (p.Asn376Asp)
c.1012A>G (p.Asn338Asp)
n.40A>G
n.264A>G
n.432A>G
1g.155235796T>GCA342713641GBA1c.1273A>C (p.Asn425His)
c.1126A>C (p.Asn376His)
c.1012A>C (p.Asn338His)
n.40A>C
n.264A>C
n.432A>C
1g.155235797C>ACA421020361GBA1c.1272G>T (p.Leu424=)
c.1125G>T (p.Leu375=)
c.1011G>T (p.Leu337=)
n.39G>T
n.263G>T
n.431G>T
1g.155235797C>GCA421020362GBA1c.1272G>C (p.Leu424=)
c.1125G>C (p.Leu375=)
c.1011G>C (p.Leu337=)
n.39G>C
n.263G>C
n.431G>C
 ClinVar dbSNP
1g.155235797C>TCA421020363GBA1c.1272G>A (p.Leu424=)
c.1125G>A (p.Leu375=)
c.1011G>A (p.Leu337=)
n.39G>A
n.263G>A
n.431G>A
1g.155235798A=CA2481201704GBA1c.1271T= (p.Leu424=)
c.1124T= (p.Leu375=)
c.1010T= (p.Leu337=)
n.38T=
n.262T=
n.430T=
1g.155235798A>CCA342713643GBA1c.1271T>G (p.Leu424Arg)
c.1124T>G (p.Leu375Arg)
c.1010T>G (p.Leu337Arg)
n.38T>G
n.262T>G
n.430T>G
1g.155235798A>GCA1141566GBA1c.1271T>C (p.Leu424Pro)
c.1124T>C (p.Leu375Pro)
c.1010T>C (p.Leu337Pro)
n.38T>C
n.262T>C
n.430T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.155235798A>TCA342713651GBA1c.1271T>A (p.Leu424Gln)
c.1124T>A (p.Leu375Gln)
c.1010T>A (p.Leu337Gln)
n.38T>A
n.262T>A
n.430T>A
1g.155235799G>ACA421020364GBA1c.1270C>T (p.Leu424=)
c.1123C>T (p.Leu375=)
c.1009C>T (p.Leu337=)
n.37C>T
n.261C>T
n.429C>T
 ClinVar gnomAD v4
1g.155235799G>CCA342713658GBA1c.1270C>G (p.Leu424Val)
c.1123C>G (p.Leu375Val)
c.1009C>G (p.Leu337Val)
n.37C>G
n.261C>G
n.429C>G
1g.155235799G>TCA342713663GBA1c.1270C>A (p.Leu424Met)
c.1123C>A (p.Leu375Met)
c.1009C>A (p.Leu337Met)
n.37C>A
n.261C>A
n.429C>A
1g.155235800G>ACA421020365GBA1c.1269C>T (p.Ala423=)
c.1122C>T (p.Ala374=)
c.1008C>T (p.Ala336=)
n.36C>T
n.260C>T
n.428C>T
1g.155235800G>CCA421020366GBA1c.1269C>G (p.Ala423=)
c.1122C>G (p.Ala374=)
c.1008C>G (p.Ala336=)
n.36C>G
n.260C>G
n.428C>G
1g.155235800G>TCA421020367GBA1c.1269C>A (p.Ala423=)
c.1122C>A (p.Ala374=)
c.1008C>A (p.Ala336=)
n.36C>A
n.260C>A
n.428C>A
1g.155235801G>ACA1141567GBA1c.1268C>T (p.Ala423Val)
c.1121C>T (p.Ala374Val)
c.1007C>T (p.Ala336Val)
n.35C>T
n.259C>T
n.427C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155235801G>CCA342713666GBA1c.1268C>G (p.Ala423Gly)
c.1121C>G (p.Ala374Gly)
c.1007C>G (p.Ala336Gly)
n.35C>G
n.259C>G
n.427C>G
1g.155235801G=CA2481201705GBA1c.1268C= (p.Ala423=)
c.1121C= (p.Ala374=)
c.1007C= (p.Ala336=)
n.35C=
n.259C=
n.427C=
1g.155235801G>TCA342713667GBA1c.1268C>A (p.Ala423Asp)
c.1121C>A (p.Ala374Asp)
c.1007C>A (p.Ala336Asp)
n.35C>A
n.259C>A
n.427C>A
1g.155235802C>ACA342713671GBA1c.1267G>T (p.Ala423Ser)
c.1120G>T (p.Ala374Ser)
c.1006G>T (p.Ala336Ser)
n.34G>T
n.258G>T
n.426G>T
 COSMIC
1g.155235802C>GCA342713676GBA1c.1267G>C (p.Ala423Pro)
c.1120G>C (p.Ala374Pro)
c.1006G>C (p.Ala336Pro)
n.34G>C
n.258G>C
n.426G>C
1g.155235802C>TCA342713678GBA1c.1267G>A (p.Ala423Thr)
c.1120G>A (p.Ala374Thr)
c.1006G>A (p.Ala336Thr)
n.34G>A
n.258G>A
n.426G>A
1g.155235803A=CA2481201706GBA1c.1266T= (p.Leu422=)
c.1119T= (p.Leu373=)
c.1005T= (p.Leu335=)
n.33T=
n.257T=
n.425T=
1g.155235803A>CCA421020371GBA1c.1266T>G (p.Leu422=)
c.1119T>G (p.Leu373=)
c.1005T>G (p.Leu335=)
n.33T>G
n.257T>G
n.425T>G
1g.155235803A>GCA421020373GBA1c.1266T>C (p.Leu422=)
c.1119T>C (p.Leu373=)
c.1005T>C (p.Leu335=)
n.33T>C
n.257T>C
n.425T>C
 dbSNP
1g.155235803A>TCA421020372GBA1c.1266T>A (p.Leu422=)
c.1119T>A (p.Leu373=)
c.1005T>A (p.Leu335=)
n.33T>A
n.257T>A
n.425T>A
 dbSNP
1g.155235804A=CA2481201707GBA1c.1265T= (p.Leu422=)
c.1118T= (p.Leu373=)
c.1004T= (p.Leu335=)
n.32T=
n.256T=
n.424T=
1g.155235804A>CCA342713681GBA1c.1265T>G (p.Leu422Arg)
c.1118T>G (p.Leu373Arg)
c.1004T>G (p.Leu335Arg)
n.32T>G
n.256T>G
n.424T>G
1g.155235804A>GCA342713685GBA1c.1265T>C (p.Leu422Pro)
c.1118T>C (p.Leu373Pro)
c.1004T>C (p.Leu335Pro)
n.32T>C
n.256T>C
n.424T>C
 dbSNP gnomAD v2
1g.155235804A>TCA342713680GBA1c.1265T>A (p.Leu422His)
c.1118T>A (p.Leu373His)
c.1004T>A (p.Leu335His)
n.32T>A
n.256T>A
n.424T>A
1g.155235805G>ACA342713693GBA1c.1264C>T (p.Leu422Phe)
c.1117C>T (p.Leu373Phe)
c.1003C>T (p.Leu335Phe)
n.31C>T
n.255C>T
n.423C>T
1g.155235805G>CCA342713697GBA1c.1264C>G (p.Leu422Val)
c.1117C>G (p.Leu373Val)
c.1003C>G (p.Leu335Val)
n.31C>G
n.255C>G
n.423C>G
1g.155235805G=CA1142899772GBA1c.1264C= (p.Leu422=)
c.1117C= (p.Leu373=)
c.1003C= (p.Leu335=)
n.31C=
n.255C=
n.423C=
1g.155235805G>TCA1141568GBA1c.1264C>A (p.Leu422Ile)
c.1117C>A (p.Leu373Ile)
c.1003C>A (p.Leu335Ile)
n.31C>A
n.255C>A
n.423C>A
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.155235806G>ACA421020377GBA1c.1263C>T (p.Asn421=)
c.1116C>T (p.Asn372=)
c.1002C>T (p.Asn334=)
n.30C>T
n.254C>T
n.422C>T
1g.155235806G>CCA342713700GBA1c.1263C>G (p.Asn421Lys)
c.1116C>G (p.Asn372Lys)
c.1002C>G (p.Asn334Lys)
n.30C>G
n.254C>G
n.422C>G
1g.155235806G>TCA342713714GBA1c.1263C>A (p.Asn421Lys)
c.1116C>A (p.Asn372Lys)
c.1002C>A (p.Asn334Lys)
n.30C>A
n.254C>A
n.422C>A
 ClinVar dbSNP
1g.155235807T>ACA342713725GBA1c.1262A>T (p.Asn421Ile)
c.1115A>T (p.Asn372Ile)
c.1001A>T (p.Asn334Ile)
n.29A>T
n.253A>T
n.421A>T
 COSMIC
1g.155235807T>CCA342713737GBA1c.1262A>G (p.Asn421Ser)
c.1115A>G (p.Asn372Ser)
c.1001A>G (p.Asn334Ser)
n.29A>G
n.253A>G
n.421A>G
1g.155235807T>GCA342713745GBA1c.1262A>C (p.Asn421Thr)
c.1115A>C (p.Asn372Thr)
c.1001A>C (p.Asn334Thr)
n.29A>C
n.253A>C
n.421A>C
1g.155235808T>ACA342713769GBA1c.1261A>T (p.Asn421Tyr)
c.1114A>T (p.Asn372Tyr)
c.1000A>T (p.Asn334Tyr)
n.28A>T
n.252A>T
n.420A>T
1g.155235808T>CCA342713786GBA1c.1261A>G (p.Asn421Asp)
c.1114A>G (p.Asn372Asp)
c.1000A>G (p.Asn334Asp)
n.28A>G
n.252A>G
n.420A>G
1g.155235808T>GCA342713802GBA1c.1261A>C (p.Asn421His)
c.1114A>C (p.Asn372His)
c.1000A>C (p.Asn334His)
n.28A>C
n.252A>C
n.420A>C
 ClinVar gnomAD v4
1g.155235809C>ACA342713811GBA1c.1260G>T (p.Trp420Cys)
c.1113G>T (p.Trp371Cys)
c.999G>T (p.Trp333Cys)
n.27G>T
n.251G>T
n.419G>T
1g.155235809C>GCA342713812GBA1c.1260G>C (p.Trp420Cys)
c.1113G>C (p.Trp371Cys)
c.999G>C (p.Trp333Cys)
n.27G>C
n.251G>C
n.419G>C
1g.155235809C>TCA342713813GBA1c.1260G>A (p.Trp420Ter)
c.1113G>A (p.Trp371Ter)
c.999G>A (p.Trp333Ter)
n.27G>A
n.251G>A
n.419G>A
 ClinVar gnomAD v4
1g.155235810C>ACA342713850GBA1c.1259G>T (p.Trp420Leu)
c.1112G>T (p.Trp371Leu)
c.998G>T (p.Trp333Leu)
n.26G>T
n.250G>T
n.418G>T
1g.155235810C=CA2481201708GBA1c.1259G= (p.Trp420=)
c.1112G= (p.Trp371=)
c.998G= (p.Trp333=)
n.26G=
n.250G=
n.418G=
1g.155235810C>GCA342713839GBA1c.1259G>C (p.Trp420Ser)
c.1112G>C (p.Trp371Ser)
c.998G>C (p.Trp333Ser)
n.26G>C
n.250G>C
n.418G>C
1g.155235810C>TCA342713817GBA1c.1259G>A (p.Trp420Ter)
c.1112G>A (p.Trp371Ter)
c.998G>A (p.Trp333Ter)
n.26G>A
n.250G>A
n.418G>A
 ClinVar dbSNP gnomAD v4
1g.155235811A>CCA342713858GBA1c.1258T>G (p.Trp420Gly)
c.1111T>G (p.Trp371Gly)
c.997T>G (p.Trp333Gly)
n.25T>G
n.249T>G
n.417T>G
1g.155235811A>GCA342713860GBA1c.1258T>C (p.Trp420Arg)
c.1111T>C (p.Trp371Arg)
c.997T>C (p.Trp333Arg)
n.25T>C
n.249T>C
n.417T>C
1g.155235811A>TCA342713865GBA1c.1258T>A (p.Trp420Arg)
c.1111T>A (p.Trp371Arg)
c.997T>A (p.Trp333Arg)
n.25T>A
n.249T>A
n.417T>A
1g.155235812G>ACA30894525GBA1c.1257C>T (p.Asp419=)
c.1110C>T (p.Asp370=)
c.996C>T (p.Asp332=)
n.24C>T
n.248C>T
n.416C>T
 dbSNP gnomAD v4
1g.155235812G>CCA30894529GBA1c.1257C>G (p.Asp419Glu)
c.1110C>G (p.Asp370Glu)
c.996C>G (p.Asp332Glu)
n.24C>G
n.248C>G
n.416C>G
 dbSNP
1g.155235812G=CA1141106809GBA1c.1257C= (p.Asp419=)
c.1110C= (p.Asp370=)
c.996C= (p.Asp332=)
n.24C=
n.248C=
n.416C=
1g.155235812G>TCA30894531GBA1c.1257C>A (p.Asp419Glu)
c.1110C>A (p.Asp370Glu)
c.996C>A (p.Asp332Glu)
n.24C>A
n.248C>A
n.416C>A
 dbSNP gnomAD v4
1g.155235813T>ACA342713875GBA1c.1256A>T (p.Asp419Val)
c.1109A>T (p.Asp370Val)
c.995A>T (p.Asp332Val)
n.23A>T
n.247A>T
n.415A>T
1g.155235813T>CCA342713877GBA1c.1256A>G (p.Asp419Gly)
c.1109A>G (p.Asp370Gly)
c.995A>G (p.Asp332Gly)
n.23A>G
n.247A>G
n.415A>G
1g.155235813T>GCA30894533GBA1c.1256A>C (p.Asp419Ala)
c.1109A>C (p.Asp370Ala)
c.995A>C (p.Asp332Ala)
n.23A>C
n.247A>C
n.415A>C
 dbSNP gnomAD v4
1g.155235813T=CA1141034953GBA1c.1256A= (p.Asp419=)
c.1109A= (p.Asp370=)
c.995A= (p.Asp332=)
n.23A=
n.247A=
n.415A=
1g.155235814C>ACA342713882GBA1c.1255G>T (p.Asp419Tyr)
c.1108G>T (p.Asp370Tyr)
c.994G>T (p.Asp332Tyr)
n.22G>T
n.246G>T
n.414G>T
 gnomAD v4
1g.155235814C=CA2481201709GBA1c.1255G= (p.Asp419=)
c.1108G= (p.Asp370=)
c.994G= (p.Asp332=)
n.22G=
n.246G=
n.414G=
1g.155235814C>GCA342713884GBA1c.1255G>C (p.Asp419His)
c.1108G>C (p.Asp370His)
c.994G>C (p.Asp332His)
n.22G>C
n.246G>C
n.414G>C
1g.155235814C>TCA342713897GBA1c.1255G>A (p.Asp419Asn)
c.1108G>A (p.Asp370Asn)
c.994G>A (p.Asp332Asn)
n.22G>A
n.246G>A
n.414G>A
 ClinVar dbSNP gnomAD v4
1g.155235815G>ACA421020385GBA1c.1254C>T (p.Thr418=)
c.1107C>T (p.Thr369=)
c.993C>T (p.Thr331=)
n.21C>T
n.245C>T
n.413C>T
 dbSNP gnomAD v4
1g.155235815G>CCA1141569GBA1c.1254C>G (p.Thr418=)
c.1107C>G (p.Thr369=)
c.993C>G (p.Thr331=)
n.21C>G
n.245C>G
n.413C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155235815G=CA2481201710GBA1c.1254C= (p.Thr418=)
c.1107C= (p.Thr369=)
c.993C= (p.Thr331=)
n.21C=
n.245C=
n.413C=
1g.155235815G>TCA421020386GBA1c.1254C>A (p.Thr418=)
c.1107C>A (p.Thr369=)
c.993C>A (p.Thr331=)
n.21C>A
n.245C>A
n.413C>A
1g.155235816G>ACA342713903GBA1c.1253C>T (p.Thr418Ile)
c.1106C>T (p.Thr369Ile)
c.992C>T (p.Thr331Ile)
n.20C>T
n.244C>T
n.412C>T
1g.155235816G>CCA342713901GBA1c.1253C>G (p.Thr418Ser)
c.1106C>G (p.Thr369Ser)
c.992C>G (p.Thr331Ser)
n.20C>G
n.244C>G
n.412C>G
1g.155235816G>TCA342713902GBA1c.1253C>A (p.Thr418Asn)
c.1106C>A (p.Thr369Asn)
c.992C>A (p.Thr331Asn)
n.20C>A
n.244C>A
n.412C>A
1g.155235817T>ACA342713904GBA1c.1252A>T (p.Thr418Ser)
c.1105A>T (p.Thr369Ser)
c.991A>T (p.Thr331Ser)
n.19A>T
n.243A>T
n.411A>T
1g.155235817T>CCA342713912GBA1c.1252A>G (p.Thr418Ala)
c.1105A>G (p.Thr369Ala)
c.991A>G (p.Thr331Ala)
n.19A>G
n.243A>G
n.411A>G
1g.155235817T>GCA342713916GBA1c.1252A>C (p.Thr418Pro)
c.1105A>C (p.Thr369Pro)
c.991A>C (p.Thr331Pro)
n.19A>C
n.243A>C
n.411A>C
1g.155235818C>ACA30894535GBA1c.1251G>T (p.Trp417Cys)
c.1104G>T (p.Trp368Cys)
c.990G>T (p.Trp330Cys)
n.18G>T
n.242G>T
n.410G>T
 dbSNP
1g.155235818C=CA1140972413GBA1c.1251G= (p.Trp417=)
c.1104G= (p.Trp368=)
c.990G= (p.Trp330=)
n.18G=
n.242G=
n.410G=
1g.155235818C>GCA342713944GBA1c.1251G>C (p.Trp417Cys)
c.1104G>C (p.Trp368Cys)
c.990G>C (p.Trp330Cys)
n.18G>C
n.242G>C
n.410G>C
1g.155235818C>TCA342713938GBA1c.1251G>A (p.Trp417Ter)
c.1104G>A (p.Trp368Ter)
c.990G>A (p.Trp330Ter)
n.18G>A
n.242G>A
n.410G>A
1g.155235818_155235820delCA2586967444GBA1c.1249_1251del (p.Trp417del)
c.1102_1104del (p.Trp368del)
c.988_990del (p.Trp330del)
n.16_18del
n.240_242del
n.408_410del
1g.155235819C>ACA342713949GBA1c.1250G>T (p.Trp417Leu)
c.1103G>T (p.Trp368Leu)
c.989G>T (p.Trp330Leu)
n.17G>T
n.241G>T
n.409G>T
1g.155235819C=CA2481201711GBA1c.1250G= (p.Trp417=)
c.1103G= (p.Trp368=)
c.989G= (p.Trp330=)
n.17G=
n.241G=
n.409G=
1g.155235819C>GCA342713957GBA1c.1250G>C (p.Trp417Ser)
c.1103G>C (p.Trp368Ser)
c.989G>C (p.Trp330Ser)
n.17G>C
n.241G>C
n.409G>C
1g.155235819C>TCA1141570GBA1c.1250G>A (p.Trp417Ter)
c.1103G>A (p.Trp368Ter)
c.989G>A (p.Trp330Ter)
n.17G>A
n.241G>A
n.409G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155235820A=CA2481201712GBA1c.1249T= (p.Trp417=)
c.1102T= (p.Trp368=)
c.988T= (p.Trp330=)
n.16T=
n.240T=
n.408T=
1g.155235820A>CCA342713973GBA1c.1249T>G (p.Trp417Gly)
c.1102T>G (p.Trp368Gly)
c.988T>G (p.Trp330Gly)
n.16T>G
n.240T>G
n.408T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.155235820A>GCA342713980GBA1c.1249T>C (p.Trp417Arg)
c.1102T>C (p.Trp368Arg)
c.988T>C (p.Trp330Arg)
n.16T>C
n.240T>C
n.408T>C
 gnomAD v4
1g.155235820A>TCA342713985GBA1c.1249T>A (p.Trp417Arg)
c.1102T>A (p.Trp368Arg)
c.988T>A (p.Trp330Arg)
n.16T>A
n.240T>A
n.408T>A
 gnomAD v4
1g.155235821G>ACA1141571GBA1c.1248C>T (p.Gly416=)
c.1101C>T (p.Gly367=)
c.987C>T (p.Gly329=)
n.15C>T
n.239C>T
n.407C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.155235821G>CCA30894542GBA1c.1248C>G (p.Gly416=)
c.1101C>G (p.Gly367=)
c.987C>G (p.Gly329=)
n.15C>G
n.239C>G
n.407C>G
 dbSNP
1g.155235821G=CA1140922620GBA1c.1248C= (p.Gly416=)
c.1101C= (p.Gly367=)
c.987C= (p.Gly329=)
n.15C=
n.239C=
n.407C=
1g.155235821G>TCA30894543GBA1c.1248C>A (p.Gly416=)
c.1101C>A (p.Gly367=)
c.987C>A (p.Gly329=)
n.15C>A
n.239C>A
n.407C>A
 dbSNP
1g.155235822C>ACA342713990GBA1c.1247G>T (p.Gly416Val)
c.1100G>T (p.Gly367Val)
c.986G>T (p.Gly329Val)
n.14G>T
n.238G>T
n.406G>T
1g.155235822C>GCA342713991GBA1c.1247G>C (p.Gly416Ala)
c.1100G>C (p.Gly367Ala)
c.986G>C (p.Gly329Ala)
n.14G>C
n.238G>C
n.406G>C
1g.155235822C>TCA342713997GBA1c.1247G>A (p.Gly416Asp)
c.1100G>A (p.Gly367Asp)
c.986G>A (p.Gly329Asp)
n.14G>A
n.238G>A
n.406G>A
1g.155235823C>ACA342714008GBA1c.1246G>T (p.Gly416Cys)
c.1099G>T (p.Gly367Cys)
c.985G>T (p.Gly329Cys)
n.13G>T
n.237G>T
n.405G>T
 gnomAD v4
1g.155235823C=CA1141581078GBA1c.1246G= (p.Gly416=)
c.1099G= (p.Gly367=)
c.985G= (p.Gly329=)
n.13G=
n.237G=
n.405G=
1g.155235823C>GCA342714017GBA1c.1246G>C (p.Gly416Arg)
c.1099G>C (p.Gly367Arg)
c.985G>C (p.Gly329Arg)
n.13G>C
n.237G>C
n.405G>C
 gnomAD v4
1g.155235823C>TCA253107GBA1c.1246G>A (p.Gly416Ser)
c.1099G>A (p.Gly367Ser)
c.985G>A (p.Gly329Ser)
n.13G>A
n.237G>A
n.405G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155235824G>ACA1141572GBA1c.1245C>T (p.Val415=)
c.1098C>T (p.Val366=)
c.984C>T (p.Val328=)
n.12C>T
n.236C>T
n.404C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.155235824G>CCA421020393GBA1c.1245C>G (p.Val415=)
c.1098C>G (p.Val366=)
c.984C>G (p.Val328=)
n.12C>G
n.236C>G
n.404C>G
1g.155235824G=CA2481201713GBA1c.1245C= (p.Val415=)
c.1098C= (p.Val366=)
c.984C= (p.Val328=)
n.12C=
n.236C=
n.404C=
1g.155235824G>TCA421020394GBA1c.1245C>A (p.Val415=)
c.1098C>A (p.Val366=)
c.984C>A (p.Val328=)
n.12C>A
n.236C>A
n.404C>A
1g.155235825A>CCA342714024GBA1c.1244T>G (p.Val415Gly)
c.1097T>G (p.Val366Gly)
c.983T>G (p.Val328Gly)
n.11T>G
n.235T>G
n.403T>G
1g.155235825A>GCA342714042GBA1c.1244T>C (p.Val415Ala)
c.1097T>C (p.Val366Ala)
c.983T>C (p.Val328Ala)
n.11T>C
n.235T>C
n.403T>C
1g.155235825A>TCA342714056GBA1c.1244T>A (p.Val415Asp)
c.1097T>A (p.Val366Asp)
c.983T>A (p.Val328Asp)
n.11T>A
n.235T>A
n.403T>A
1g.155235826C>ACA342714081GBA1c.1243G>T (p.Val415Phe)
c.1096G>T (p.Val366Phe)
c.982G>T (p.Val328Phe)
n.10G>T
n.234G>T
n.402G>T
 COSMIC
1g.155235826C>GCA342714068GBA1c.1243G>C (p.Val415Leu)
c.1096G>C (p.Val366Leu)
c.982G>C (p.Val328Leu)
n.10G>C
n.234G>C
n.402G>C
1g.155235826C>TCA342714060GBA1c.1243G>A (p.Val415Ile)
c.1096G>A (p.Val366Ile)
c.982G>A (p.Val328Ile)
n.10G>A
n.234G>A
n.402G>A
1g.155235827delCA2648250243GBA1c.1243del (p.Val415SerfsTer10)
c.1096del (p.Val366SerfsTer10)
c.982del (p.Val328SerfsTer10)
n.10del
n.234del
n.402del
 gnomAD v4
1g.155235827C>ACA421020395GBA1c.1242G>T (p.Val414=)
c.1095G>T (p.Val365=)
c.981G>T (p.Val327=)
n.9G>T
n.233G>T
n.401G>T
1g.155235827C=CA2481201714GBA1c.1242G= (p.Val414=)
c.1095G= (p.Val365=)
c.981G= (p.Val327=)
n.9G=
n.233G=
n.401G=
1g.155235827C>GCA421020396GBA1c.1242G>C (p.Val414=)
c.1095G>C (p.Val365=)
c.981G>C (p.Val327=)
n.9G>C
n.233G>C
n.401G>C
1g.155235827C>TCA421020397GBA1c.1242G>A (p.Val414=)
c.1095G>A (p.Val365=)
c.981G>A (p.Val327=)
n.9G>A
n.233G>A
n.401G>A
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched