Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.114677980C>ACA1020203AMPD1c.1142G>T (p.Ser381Ile)
c.1154G>T (p.Ser385Ile)
c.937G>T (n.937G>T)
n.819G>T
c.1241G>T (p.Ser414Ile)
c.1253G>T (p.Ser418Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114677980C=CA1146374834AMPD1c.1142G= (p.Ser381=)
c.1154G= (p.Ser385=)
c.937G= (n.937G=)
n.819G=
c.1241G= (p.Ser414=)
c.1253G= (p.Ser418=)
1g.114677980C>GCA341749098AMPD1c.1142G>C (p.Ser381Thr)
c.1154G>C (p.Ser385Thr)
c.937G>C (n.937G>C)
n.819G>C
c.1241G>C (p.Ser414Thr)
c.1253G>C (p.Ser418Thr)
COSMIC COSMIC
1g.114677980C>TCA341749099AMPD1c.1142G>A (p.Ser381Asn)
c.1154G>A (p.Ser385Asn)
c.937G>A (n.937G>A)
n.819G>A
c.1241G>A (p.Ser414Asn)
c.1253G>A (p.Ser418Asn)
1g.114677981T>ACA341749101AMPD1c.1141A>T (p.Ser381Cys)
c.1153A>T (p.Ser385Cys)
c.936A>T (n.936A>T)
n.818A>T
c.1240A>T (p.Ser414Cys)
c.1252A>T (p.Ser418Cys)
1g.114677981T>CCA341749102AMPD1c.1141A>G (p.Ser381Gly)
c.1153A>G (p.Ser385Gly)
c.936A>G (n.936A>G)
n.818A>G
c.1240A>G (p.Ser414Gly)
c.1252A>G (p.Ser418Gly)
1g.114677981T>GCA341749100AMPD1c.1141A>C (p.Ser381Arg)
c.1153A>C (p.Ser385Arg)
c.936A>C (n.936A>C)
n.818A>C
c.1240A>C (p.Ser414Arg)
c.1252A>C (p.Ser418Arg)
1g.114677982delCA2696723536AMPD1c.1141del (p.Ser381ValfsTer8)
c.1153del (p.Ser385ValfsTer8)
c.936del (n.936del)
n.818del
c.1240del (p.Ser414ValfsTer8)
c.1252del (p.Ser418ValfsTer8)
dbSNP
1g.114677982T>ACA419883110AMPD1c.1140A>T (p.Ala380=)
c.1152A>T (p.Ala384=)
c.935A>T (n.935A>T)
n.817A>T
c.1239A>T (p.Ala413=)
c.1251A>T (p.Ala417=)
1g.114677982T>CCA419883111AMPD1c.1140A>G (p.Ala380=)
c.1152A>G (p.Ala384=)
c.935A>G (n.935A>G)
n.817A>G
c.1239A>G (p.Ala413=)
c.1251A>G (p.Ala417=)
1g.114677982T>GCA419883112AMPD1c.1140A>C (p.Ala380=)
c.1152A>C (p.Ala384=)
c.935A>C (n.935A>C)
n.817A>C
c.1239A>C (p.Ala413=)
c.1251A>C (p.Ala417=)
1g.114677983G>ACA341749103AMPD1c.1139C>T (p.Ala380Val)
c.1151C>T (p.Ala384Val)
c.934C>T (n.934C>T)
n.816C>T
c.1238C>T (p.Ala413Val)
c.1250C>T (p.Ala417Val)
1g.114677983G>CCA341749104AMPD1c.1139C>G (p.Ala380Gly)
c.1151C>G (p.Ala384Gly)
c.934C>G (n.934C>G)
n.816C>G
c.1238C>G (p.Ala413Gly)
c.1250C>G (p.Ala417Gly)
1g.114677983G=CA1190276616AMPD1c.1139C= (p.Ala380=)
c.1151C= (p.Ala384=)
c.934C= (n.934C=)
n.816C=
c.1238C= (p.Ala413=)
c.1250C= (p.Ala417=)
1g.114677983G>TCA1020204AMPD1c.1139C>A (p.Ala380Glu)
c.1151C>A (p.Ala384Glu)
c.934C>A (n.934C>A)
n.816C>A
c.1238C>A (p.Ala413Glu)
c.1250C>A (p.Ala417Glu)
ClinVar dbSNP ExAC gnomAD v2 COSMIC
1g.114677984C>ACA341749105AMPD1c.1138G>T (p.Ala380Ser)
c.1150G>T (p.Ala384Ser)
c.933G>T (n.933G>T)
n.815G>T
c.1237G>T (p.Ala413Ser)
c.1249G>T (p.Ala417Ser)
1g.114677984C=CA1190276617AMPD1c.1138G= (p.Ala380=)
c.1150G= (p.Ala384=)
c.933G= (n.933G=)
n.815G=
c.1237G= (p.Ala413=)
c.1249G= (p.Ala417=)
1g.114677984C>GCA341749106AMPD1c.1138G>C (p.Ala380Pro)
c.1150G>C (p.Ala384Pro)
c.933G>C (n.933G>C)
n.815G>C
c.1237G>C (p.Ala413Pro)
c.1249G>C (p.Ala417Pro)
1g.114677984C>TCA341749107AMPD1c.1138G>A (p.Ala380Thr)
c.1150G>A (p.Ala384Thr)
c.933G>A (n.933G>A)
n.815G>A
c.1237G>A (p.Ala413Thr)
c.1249G>A (p.Ala417Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.114677985T>ACA419883113AMPD1c.1137A>T (p.Gly379=)
c.1149A>T (p.Gly383=)
c.932A>T (n.932A>T)
n.814A>T
c.1236A>T (p.Gly412=)
c.1248A>T (p.Gly416=)
1g.114677985T>CCA1020205AMPD1c.1137A>G (p.Gly379=)
c.1149A>G (p.Gly383=)
c.932A>G (n.932A>G)
n.814A>G
c.1236A>G (p.Gly412=)
c.1248A>G (p.Gly416=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.114677985T>GCA419883114AMPD1c.1137A>C (p.Gly379=)
c.1149A>C (p.Gly383=)
c.932A>C (n.932A>C)
n.814A>C
c.1236A>C (p.Gly412=)
c.1248A>C (p.Gly416=)
1g.114677985T=CA1148269336AMPD1c.1137A= (p.Gly379=)
c.1149A= (p.Gly383=)
c.932A= (n.932A=)
n.814A=
c.1236A= (p.Gly412=)
c.1248A= (p.Gly416=)
1g.114677986C>ACA341749108AMPD1c.1136G>T (p.Gly379Val)
c.1148G>T (p.Gly383Val)
c.931G>T (n.931G>T)
n.813G>T
c.1235G>T (p.Gly412Val)
c.1247G>T (p.Gly416Val)
1g.114677986C=CA1190276618AMPD1c.1136G= (p.Gly379=)
c.1148G= (p.Gly383=)
c.931G= (n.931G=)
n.813G=
c.1235G= (p.Gly412=)
c.1247G= (p.Gly416=)
1g.114677986C>GCA341749109AMPD1c.1136G>C (p.Gly379Ala)
c.1148G>C (p.Gly383Ala)
c.931G>C (n.931G>C)
n.813G>C
c.1235G>C (p.Gly412Ala)
c.1247G>C (p.Gly416Ala)
1g.114677986C>TCA1020206AMPD1c.1136G>A (p.Gly379Glu)
c.1148G>A (p.Gly383Glu)
c.931G>A (n.931G>A)
n.813G>A
c.1235G>A (p.Gly412Glu)
c.1247G>A (p.Gly416Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.114677987C>ACA341749110AMPD1c.1135G>T (p.Gly379Ter)
c.1147G>T (p.Gly383Ter)
c.930G>T (n.930G>T)
n.812G>T
c.1234G>T (p.Gly412Ter)
c.1246G>T (p.Gly416Ter)
dbSNP COSMIC COSMIC
1g.114677987C=CA1190276619AMPD1c.1135G= (p.Gly379=)
c.1147G= (p.Gly383=)
c.930G= (n.930G=)
n.812G=
c.1234G= (p.Gly412=)
c.1246G= (p.Gly416=)
1g.114677987C>GCA341749111AMPD1c.1135G>C (p.Gly379Arg)
c.1147G>C (p.Gly383Arg)
c.930G>C (n.930G>C)
n.812G>C
c.1234G>C (p.Gly412Arg)
c.1246G>C (p.Gly416Arg)
gnomAD v4
1g.114677987C>TCA341749112AMPD1c.1135G>A (p.Gly379Arg)
c.1147G>A (p.Gly383Arg)
c.930G>A (n.930G>A)
n.812G>A
c.1234G>A (p.Gly412Arg)
c.1246G>A (p.Gly416Arg)
gnomAD v4
1g.114677988T>ACA419883115AMPD1c.1134A>T (p.Val378=)
c.1146A>T (p.Val382=)
c.929A>T (n.929A>T)
n.811A>T
c.1233A>T (p.Val411=)
c.1245A>T (p.Val415=)
gnomAD v4
1g.114677988T>CCA419883116AMPD1c.1134A>G (p.Val378=)
c.1146A>G (p.Val382=)
c.929A>G (n.929A>G)
n.811A>G
c.1233A>G (p.Val411=)
c.1245A>G (p.Val415=)
1g.114677988T>GCA419883117AMPD1c.1134A>C (p.Val378=)
c.1146A>C (p.Val382=)
c.929A>C (n.929A>C)
n.811A>C
c.1233A>C (p.Val411=)
c.1245A>C (p.Val415=)
1g.114677989A=CA1190276620AMPD1c.1133T= (p.Val378=)
c.1145T= (p.Val382=)
c.928T= (n.928T=)
n.810T=
c.1232T= (p.Val411=)
c.1244T= (p.Val415=)
1g.114677989A>CCA1020207AMPD1c.1133T>G (p.Val378Gly)
c.1145T>G (p.Val382Gly)
c.928T>G (n.928T>G)
n.810T>G
c.1232T>G (p.Val411Gly)
c.1244T>G (p.Val415Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.114677989A>GCA341749114AMPD1c.1133T>C (p.Val378Ala)
c.1145T>C (p.Val382Ala)
c.928T>C (n.928T>C)
n.810T>C
c.1232T>C (p.Val411Ala)
c.1244T>C (p.Val415Ala)
dbSNP
1g.114677989A>TCA341749113AMPD1c.1133T>A (p.Val378Glu)
c.1145T>A (p.Val382Glu)
c.928T>A (n.928T>A)
n.810T>A
c.1232T>A (p.Val411Glu)
c.1244T>A (p.Val415Glu)
1g.114677990C>ACA341749115AMPD1c.1132G>T (p.Val378Leu)
c.1144G>T (p.Val382Leu)
c.927G>T (n.927G>T)
n.809G>T
c.1231G>T (p.Val411Leu)
c.1243G>T (p.Val415Leu)
1g.114677990C>GCA341749116AMPD1c.1132G>C (p.Val378Leu)
c.1144G>C (p.Val382Leu)
c.927G>C (n.927G>C)
n.809G>C
c.1231G>C (p.Val411Leu)
c.1243G>C (p.Val415Leu)
1g.114677990C>TCA341749117AMPD1c.1132G>A (p.Val378Ile)
c.1144G>A (p.Val382Ile)
c.927G>A (n.927G>A)
n.809G>A
c.1231G>A (p.Val411Ile)
c.1243G>A (p.Val415Ile)
gnomAD v4
1g.114677991A=CA1190276621AMPD1c.1131T= (p.Pro377=)
c.1143T= (p.Pro381=)
c.926T= (n.926T=)
n.808T=
c.1230T= (p.Pro410=)
c.1242T= (p.Pro414=)
1g.114677991A>CCA419883120AMPD1c.1131T>G (p.Pro377=)
c.1143T>G (p.Pro381=)
c.926T>G (n.926T>G)
n.808T>G
c.1230T>G (p.Pro410=)
c.1242T>G (p.Pro414=)
dbSNP gnomAD v4
1g.114677991A>GCA419883119AMPD1c.1131T>C (p.Pro377=)
c.1143T>C (p.Pro381=)
c.926T>C (n.926T>C)
n.808T>C
c.1230T>C (p.Pro410=)
c.1242T>C (p.Pro414=)
1g.114677991A>TCA419883118AMPD1c.1131T>A (p.Pro377=)
c.1143T>A (p.Pro381=)
c.926T>A (n.926T>A)
n.808T>A
c.1230T>A (p.Pro410=)
c.1242T>A (p.Pro414=)
1g.114677992G>ACA29055384AMPD1c.1130C>T (p.Pro377Leu)
c.1142C>T (p.Pro381Leu)
c.925C>T (n.925C>T)
n.807C>T
c.1229C>T (p.Pro410Leu)
c.1241C>T (p.Pro414Leu)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.114677992G>CCA341749118AMPD1c.1130C>G (p.Pro377Arg)
c.1142C>G (p.Pro381Arg)
c.925C>G (n.925C>G)
n.807C>G
c.1229C>G (p.Pro410Arg)
c.1241C>G (p.Pro414Arg)
1g.114677992G=CA1146335914AMPD1c.1130C= (p.Pro377=)
c.1142C= (p.Pro381=)
c.925C= (n.925C=)
n.807C=
c.1229C= (p.Pro410=)
c.1241C= (p.Pro414=)
1g.114677992G>TCA341749119AMPD1c.1130C>A (p.Pro377His)
c.1142C>A (p.Pro381His)
c.925C>A (n.925C>A)
n.807C>A
c.1229C>A (p.Pro410His)
c.1241C>A (p.Pro414His)
1g.114677993G>ACA341749120AMPD1c.1129C>T (p.Pro377Ser)
c.1141C>T (p.Pro381Ser)
c.924C>T (n.924C>T)
n.806C>T
c.1228C>T (p.Pro410Ser)
c.1240C>T (p.Pro414Ser)
dbSNP gnomAD v4

Number of alleles fetched