Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.114677972G>ACA128024AMPD1c.1150C>T (p.Arg384Trp)
c.1162C>T (p.Arg388Trp)
n.945C>T (n.945C>T)
n.827C>T
c.1249C>T (p.Arg417Trp)
c.1261C>T (p.Arg421Trp)
ClinVar dbSNP ExAC gnomAD
1g.114677972G>CCA341749083AMPD1c.1150C>G (p.Arg384Gly)
c.1162C>G (p.Arg388Gly)
n.945C>G (n.945C>G)
n.827C>G
c.1249C>G (p.Arg417Gly)
c.1261C>G (p.Arg421Gly)
1g.114677972G=CA1140594123AMPD1c.1150C= (p.Arg384=)
c.1162C= (p.Arg388=)
n.945C= (n.945C=)
n.827C=
c.1249C= (p.Arg417=)
c.1261C= (p.Arg421=)
1g.114677972G>TCA419883103AMPD1c.1150C>A (p.Arg384=)
c.1162C>A (p.Arg388=)
n.945C>A (n.945C>A)
n.827C>A
c.1249C>A (p.Arg417=)
c.1261C>A (p.Arg421=)
COSMIC COSMIC
1g.114677973T>ACA419883104AMPD1c.1149A>T (p.Leu383=)
c.1161A>T (p.Leu387=)
n.944A>T (n.944A>T)
n.826A>T
c.1248A>T (p.Leu416=)
c.1260A>T (p.Leu420=)
1g.114677973T>CCA419883105AMPD1c.1149A>G (p.Leu383=)
c.1161A>G (p.Leu387=)
n.944A>G (n.944A>G)
n.826A>G
c.1248A>G (p.Leu416=)
c.1260A>G (p.Leu420=)
1g.114677973T>GCA419883106AMPD1c.1149A>C (p.Leu383=)
c.1161A>C (p.Leu387=)
n.944A>C (n.944A>C)
n.826A>C
c.1248A>C (p.Leu416=)
c.1260A>C (p.Leu420=)
1g.114677974A>CCA341749084AMPD1c.1148T>G (p.Leu383Arg)
c.1160T>G (p.Leu387Arg)
n.943T>G (n.943T>G)
n.825T>G
c.1247T>G (p.Leu416Arg)
c.1259T>G (p.Leu420Arg)
1g.114677974A>GCA341749085AMPD1c.1148T>C (p.Leu383Pro)
c.1160T>C (p.Leu387Pro)
n.943T>C (n.943T>C)
n.825T>C
c.1247T>C (p.Leu416Pro)
c.1259T>C (p.Leu420Pro)
1g.114677974A>TCA341749086AMPD1c.1148T>A (p.Leu383Gln)
c.1160T>A (p.Leu387Gln)
n.943T>A (n.943T>A)
n.825T>A
c.1247T>A (p.Leu416Gln)
c.1259T>A (p.Leu420Gln)
1g.114677975G>ACA419883107AMPD1c.1147C>T (p.Leu383=)
c.1159C>T (p.Leu387=)
n.942C>T (n.942C>T)
n.824C>T
c.1246C>T (p.Leu416=)
c.1258C>T (p.Leu420=)
1g.114677975G>CCA341749087AMPD1c.1147C>G (p.Leu383Val)
c.1159C>G (p.Leu387Val)
n.942C>G (n.942C>G)
n.824C>G
c.1246C>G (p.Leu416Val)
c.1258C>G (p.Leu420Val)
1g.114677975G>TCA341749088AMPD1c.1147C>A (p.Leu383Ile)
c.1159C>A (p.Leu387Ile)
n.942C>A (n.942C>A)
n.824C>A
c.1246C>A (p.Leu416Ile)
c.1258C>A (p.Leu420Ile)
1g.114677976C>ACA341749090AMPD1c.1146G>T (p.Glu382Asp)
c.1158G>T (p.Glu386Asp)
n.941G>T (n.941G>T)
n.823G>T
c.1245G>T (p.Glu415Asp)
c.1257G>T (p.Glu419Asp)
1g.114677976C>GCA341749089AMPD1c.1146G>C (p.Glu382Asp)
c.1158G>C (p.Glu386Asp)
n.941G>C (n.941G>C)
n.823G>C
c.1245G>C (p.Glu415Asp)
c.1257G>C (p.Glu419Asp)
1g.114677976C>TCA419883108AMPD1c.1146G>A (p.Glu382=)
c.1158G>A (p.Glu386=)
n.941G>A (n.941G>A)
n.823G>A
c.1245G>A (p.Glu415=)
c.1257G>A (p.Glu419=)
1g.114677977T>ACA341749091AMPD1c.1145A>T (p.Glu382Val)
c.1157A>T (p.Glu386Val)
n.940A>T (n.940A>T)
n.822A>T
c.1244A>T (p.Glu415Val)
c.1256A>T (p.Glu419Val)
1g.114677977T>CCA341749092AMPD1c.1145A>G (p.Glu382Gly)
c.1157A>G (p.Glu386Gly)
n.940A>G (n.940A>G)
n.822A>G
c.1244A>G (p.Glu415Gly)
c.1256A>G (p.Glu419Gly)
1g.114677977T>GCA341749093AMPD1c.1145A>C (p.Glu382Ala)
c.1157A>C (p.Glu386Ala)
n.940A>C (n.940A>C)
n.822A>C
c.1244A>C (p.Glu415Ala)
c.1256A>C (p.Glu419Ala)
1g.114677978C>ACA341749094AMPD1c.1144G>T (p.Glu382Ter)
c.1156G>T (p.Glu386Ter)
n.939G>T (n.939G>T)
n.821G>T
c.1243G>T (p.Glu415Ter)
c.1255G>T (p.Glu419Ter)
1g.114677978C=CA1190276615AMPD1c.1144G= (p.Glu382=)
c.1156G= (p.Glu386=)
n.939G= (n.939G=)
n.821G=
c.1243G= (p.Glu415=)
c.1255G= (p.Glu419=)
1g.114677978C>GCA341749095AMPD1c.1144G>C (p.Glu382Gln)
c.1156G>C (p.Glu386Gln)
n.939G>C (n.939G>C)
n.821G>C
c.1243G>C (p.Glu415Gln)
c.1255G>C (p.Glu419Gln)
1g.114677978C>TCA29055344AMPD1c.1144G>A (p.Glu382Lys)
c.1156G>A (p.Glu386Lys)
n.939G>A (n.939G>A)
n.821G>A
c.1243G>A (p.Glu415Lys)
c.1255G>A (p.Glu419Lys)
dbSNP gnomAD
1g.114677979A>CCA341749096AMPD1c.1143T>G (p.Ser381Arg)
c.1155T>G (p.Ser385Arg)
n.938T>G (n.938T>G)
n.820T>G
c.1242T>G (p.Ser414Arg)
c.1254T>G (p.Ser418Arg)
1g.114677979A>GCA419883109AMPD1c.1143T>C (p.Ser381=)
c.1155T>C (p.Ser385=)
n.938T>C (n.938T>C)
n.820T>C
c.1242T>C (p.Ser414=)
c.1254T>C (p.Ser418=)
1g.114677979A>TCA341749097AMPD1c.1143T>A (p.Ser381Arg)
c.1155T>A (p.Ser385Arg)
n.938T>A (n.938T>A)
n.820T>A
c.1242T>A (p.Ser414Arg)
c.1254T>A (p.Ser418Arg)
1g.114677980C>ACA1020203AMPD1c.1142G>T (p.Ser381Ile)
c.1154G>T (p.Ser385Ile)
n.937G>T (n.937G>T)
n.819G>T
c.1241G>T (p.Ser414Ile)
c.1253G>T (p.Ser418Ile)
dbSNP ExAC gnomAD
1g.114677980C=CA1146374834AMPD1c.1142G= (p.Ser381=)
c.1154G= (p.Ser385=)
n.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)
n.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)
n.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)
n.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)
n.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)
n.936A>C (n.936A>C)
n.818A>C
c.1240A>C (p.Ser414Arg)
c.1252A>C (p.Ser418Arg)
1g.114677982T>ACA419883110AMPD1c.1140A>T (p.Ala380=)
c.1152A>T (p.Ala384=)
n.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=)
n.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=)
n.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)
n.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)
n.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=)
n.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)
n.934C>A (n.934C>A)
n.816C>A
c.1238C>A (p.Ala413Glu)
c.1250C>A (p.Ala417Glu)
dbSNP ExAC gnomAD COSMIC
1g.114677984C>ACA341749105AMPD1c.1138G>T (p.Ala380Ser)
c.1150G>T (p.Ala384Ser)
n.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=)
n.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)
n.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)
n.933G>A (n.933G>A)
n.815G>A
c.1237G>A (p.Ala413Thr)
c.1249G>A (p.Ala417Thr)
gnomAD
1g.114677985T>ACA419883113AMPD1c.1137A>T (p.Gly379=)
c.1149A>T (p.Gly383=)
n.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=)
n.932A>G (n.932A>G)
n.814A>G
c.1236A>G (p.Gly412=)
c.1248A>G (p.Gly416=)
dbSNP ExAC gnomAD
1g.114677985T>GCA419883114AMPD1c.1137A>C (p.Gly379=)
c.1149A>C (p.Gly383=)
n.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=)
n.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)
n.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=)
n.931G= (n.931G=)
n.813G=
c.1235G= (p.Gly412=)
c.1247G= (p.Gly416=)

Number of alleles fetched