Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.114677911T>ACA341748945AMPD1c.1211A>T (p.Lys404Met)
c.1223A>T (p.Lys408Met)
c.1006A>T (n.1006A>T)
n.888A>T
c.1310A>T (p.Lys437Met)
c.1322A>T (p.Lys441Met)
1g.114677911T>CCA341748947AMPD1c.1211A>G (p.Lys404Arg)
c.1223A>G (p.Lys408Arg)
c.1006A>G (n.1006A>G)
n.888A>G
c.1310A>G (p.Lys437Arg)
c.1322A>G (p.Lys441Arg)
1g.114677911T>GCA341748946AMPD1c.1211A>C (p.Lys404Thr)
c.1223A>C (p.Lys408Thr)
c.1006A>C (n.1006A>C)
n.888A>C
c.1310A>C (p.Lys437Thr)
c.1322A>C (p.Lys441Thr)
1g.114677912T>ACA341748948AMPD1c.1210A>T (p.Lys404Ter)
c.1222A>T (p.Lys408Ter)
c.1005A>T (n.1005A>T)
n.887A>T
c.1309A>T (p.Lys437Ter)
c.1321A>T (p.Lys441Ter)
1g.114677912T>CCA341748949AMPD1c.1210A>G (p.Lys404Glu)
c.1222A>G (p.Lys408Glu)
c.1005A>G (n.1005A>G)
n.887A>G
c.1309A>G (p.Lys437Glu)
c.1321A>G (p.Lys441Glu)
1g.114677912T>GCA341748950AMPD1c.1210A>C (p.Lys404Gln)
c.1222A>C (p.Lys408Gln)
c.1005A>C (n.1005A>C)
n.887A>C
c.1309A>C (p.Lys437Gln)
c.1321A>C (p.Lys441Gln)
1g.114677913G>ACA419883076AMPD1c.1209C>T (p.Ile403=)
c.1221C>T (p.Ile407=)
c.1004C>T (n.1004C>T)
n.886C>T
c.1308C>T (p.Ile436=)
c.1320C>T (p.Ile440=)
1g.114677913G>CCA1020188AMPD1c.1209C>G (p.Ile403Met)
c.1221C>G (p.Ile407Met)
c.1004C>G (n.1004C>G)
n.886C>G
c.1308C>G (p.Ile436Met)
c.1320C>G (p.Ile440Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114677913G=CA1141965129AMPD1c.1209C= (p.Ile403=)
c.1221C= (p.Ile407=)
c.1004C= (n.1004C=)
n.886C=
c.1308C= (p.Ile436=)
c.1320C= (p.Ile440=)
1g.114677913G>TCA419883077AMPD1c.1209C>A (p.Ile403=)
c.1221C>A (p.Ile407=)
c.1004C>A (n.1004C>A)
n.886C>A
c.1308C>A (p.Ile436=)
c.1320C>A (p.Ile440=)
1g.114677914A=CA1190276591AMPD1c.1208T= (p.Ile403=)
c.1220T= (p.Ile407=)
c.1003T= (n.1003T=)
n.885T=
c.1307T= (p.Ile436=)
c.1319T= (p.Ile440=)
1g.114677914A>CCA341748951AMPD1c.1208T>G (p.Ile403Ser)
c.1220T>G (p.Ile407Ser)
c.1003T>G (n.1003T>G)
n.885T>G
c.1307T>G (p.Ile436Ser)
c.1319T>G (p.Ile440Ser)
1g.114677914A>GCA29055257AMPD1c.1208T>C (p.Ile403Thr)
c.1220T>C (p.Ile407Thr)
c.1003T>C (n.1003T>C)
n.885T>C
c.1307T>C (p.Ile436Thr)
c.1319T>C (p.Ile440Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.114677914A>TCA341748952AMPD1c.1208T>A (p.Ile403Asn)
c.1220T>A (p.Ile407Asn)
c.1003T>A (n.1003T>A)
n.885T>A
c.1307T>A (p.Ile436Asn)
c.1319T>A (p.Ile440Asn)
1g.114677915T>ACA341748953AMPD1c.1207A>T (p.Ile403Phe)
c.1219A>T (p.Ile407Phe)
c.1002A>T (n.1002A>T)
n.884A>T
c.1306A>T (p.Ile436Phe)
c.1318A>T (p.Ile440Phe)
dbSNP
1g.114677915T>CCA341748954AMPD1c.1207A>G (p.Ile403Val)
c.1219A>G (p.Ile407Val)
c.1002A>G (n.1002A>G)
n.884A>G
c.1306A>G (p.Ile436Val)
c.1318A>G (p.Ile440Val)
dbSNP gnomAD v4
1g.114677915T>GCA341748955AMPD1c.1207A>C (p.Ile403Leu)
c.1219A>C (p.Ile407Leu)
c.1002A>C (n.1002A>C)
n.884A>C
c.1306A>C (p.Ile436Leu)
c.1318A>C (p.Ile440Leu)
1g.114677915T=CA1190276592AMPD1c.1207A= (p.Ile403=)
c.1219A= (p.Ile407=)
c.1002A= (n.1002A=)
n.884A=
c.1306A= (p.Ile436=)
c.1318A= (p.Ile440=)
1g.114677916G>ACA419883078AMPD1c.1206C>T (p.Ile402=)
c.1218C>T (p.Ile406=)
c.1001C>T (n.1001C>T)
n.883C>T
c.1305C>T (p.Ile435=)
c.1317C>T (p.Ile439=)
gnomAD v4
1g.114677916G>CCA341748956AMPD1c.1206C>G (p.Ile402Met)
c.1218C>G (p.Ile406Met)
c.1001C>G (n.1001C>G)
n.883C>G
c.1305C>G (p.Ile435Met)
c.1317C>G (p.Ile439Met)
1g.114677916G>TCA419883079AMPD1c.1206C>A (p.Ile402=)
c.1218C>A (p.Ile406=)
c.1001C>A (n.1001C>A)
n.883C>A
c.1305C>A (p.Ile435=)
c.1317C>A (p.Ile439=)
1g.114677917A=CA1145430801AMPD1c.1205T= (p.Ile402=)
c.1217T= (p.Ile406=)
c.1000T= (n.1000T=)
n.882T=
c.1304T= (p.Ile435=)
c.1316T= (p.Ile439=)
1g.114677917A>CCA341748958AMPD1c.1205T>G (p.Ile402Ser)
c.1217T>G (p.Ile406Ser)
c.1000T>G (n.1000T>G)
n.882T>G
c.1304T>G (p.Ile435Ser)
c.1316T>G (p.Ile439Ser)
1g.114677917A>GCA1020189AMPD1c.1205T>C (p.Ile402Thr)
c.1217T>C (p.Ile406Thr)
c.1000T>C (n.1000T>C)
n.882T>C
c.1304T>C (p.Ile435Thr)
c.1316T>C (p.Ile439Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.114677917A>TCA341748957AMPD1c.1205T>A (p.Ile402Asn)
c.1217T>A (p.Ile406Asn)
c.1000T>A (n.1000T>A)
n.882T>A
c.1304T>A (p.Ile435Asn)
c.1316T>A (p.Ile439Asn)
1g.114677918T>ACA341748959AMPD1c.1204A>T (p.Ile402Phe)
c.1216A>T (p.Ile406Phe)
c.999A>T (n.999A>T)
n.881A>T
c.1303A>T (p.Ile435Phe)
c.1315A>T (p.Ile439Phe)
dbSNP gnomAD v3 gnomAD v4
1g.114677918T>CCA341748960AMPD1c.1204A>G (p.Ile402Val)
c.1216A>G (p.Ile406Val)
c.999A>G (n.999A>G)
n.881A>G
c.1303A>G (p.Ile435Val)
c.1315A>G (p.Ile439Val)
COSMIC COSMIC
1g.114677918T>GCA341748961AMPD1c.1204A>C (p.Ile402Leu)
c.1216A>C (p.Ile406Leu)
c.999A>C (n.999A>C)
n.881A>C
c.1303A>C (p.Ile435Leu)
c.1315A>C (p.Ile439Leu)
1g.114677918T=CA1190276593AMPD1c.1204A= (p.Ile402=)
c.1216A= (p.Ile406=)
c.999A= (n.999A=)
n.881A=
c.1303A= (p.Ile435=)
c.1315A= (p.Ile439=)
1g.114677919A>CCA419883080AMPD1c.1203T>G (p.Thr401=)
c.1215T>G (p.Thr405=)
c.998T>G (n.998T>G)
n.880T>G
c.1302T>G (p.Thr434=)
c.1314T>G (p.Thr438=)
1g.114677919A>GCA419883081AMPD1c.1203T>C (p.Thr401=)
c.1215T>C (p.Thr405=)
c.998T>C (n.998T>C)
n.880T>C
c.1302T>C (p.Thr434=)
c.1314T>C (p.Thr438=)
1g.114677919A>TCA419883082AMPD1c.1203T>A (p.Thr401=)
c.1215T>A (p.Thr405=)
c.998T>A (n.998T>A)
n.880T>A
c.1302T>A (p.Thr434=)
c.1314T>A (p.Thr438=)
1g.114677920G>ACA1020190AMPD1c.1202C>T (p.Thr401Ile)
c.1214C>T (p.Thr405Ile)
c.997C>T (n.997C>T)
n.879C>T
c.1301C>T (p.Thr434Ile)
c.1313C>T (p.Thr438Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114677920G>CCA341748962AMPD1c.1202C>G (p.Thr401Ser)
c.1214C>G (p.Thr405Ser)
c.997C>G (n.997C>G)
n.879C>G
c.1301C>G (p.Thr434Ser)
c.1313C>G (p.Thr438Ser)
1g.114677920G=CA1190276594AMPD1c.1202C= (p.Thr401=)
c.1214C= (p.Thr405=)
c.997C= (n.997C=)
n.879C=
c.1301C= (p.Thr434=)
c.1313C= (p.Thr438=)
1g.114677920G>TCA341748963AMPD1c.1202C>A (p.Thr401Asn)
c.1214C>A (p.Thr405Asn)
c.997C>A (n.997C>A)
n.879C>A
c.1301C>A (p.Thr434Asn)
c.1313C>A (p.Thr438Asn)
1g.114677921T>ACA341748964AMPD1c.1201A>T (p.Thr401Ser)
c.1213A>T (p.Thr405Ser)
c.996A>T (n.996A>T)
n.878A>T
c.1300A>T (p.Thr434Ser)
c.1312A>T (p.Thr438Ser)
gnomAD v4
1g.114677921T>CCA341748965AMPD1c.1201A>G (p.Thr401Ala)
c.1213A>G (p.Thr405Ala)
c.996A>G (n.996A>G)
n.878A>G
c.1300A>G (p.Thr434Ala)
c.1312A>G (p.Thr438Ala)
COSMIC COSMIC
1g.114677921T>GCA341748966AMPD1c.1201A>C (p.Thr401Pro)
c.1213A>C (p.Thr405Pro)
c.996A>C (n.996A>C)
n.878A>C
c.1300A>C (p.Thr434Pro)
c.1312A>C (p.Thr438Pro)
1g.114677922G>ACA1020191AMPD1c.1200C>T (p.Ala400=)
c.1212C>T (p.Ala404=)
c.995C>T (n.995C>T)
n.877C>T
c.1299C>T (p.Ala433=)
c.1311C>T (p.Ala437=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114677922G>CCA419883084AMPD1c.1200C>G (p.Ala400=)
c.1212C>G (p.Ala404=)
c.995C>G (n.995C>G)
n.877C>G
c.1299C>G (p.Ala433=)
c.1311C>G (p.Ala437=)
1g.114677922G=CA1190276595AMPD1c.1200C= (p.Ala400=)
c.1212C= (p.Ala404=)
c.995C= (n.995C=)
n.877C=
c.1299C= (p.Ala433=)
c.1311C= (p.Ala437=)
1g.114677922G>TCA419883083AMPD1c.1200C>A (p.Ala400=)
c.1212C>A (p.Ala404=)
c.995C>A (n.995C>A)
n.877C>A
c.1299C>A (p.Ala433=)
c.1311C>A (p.Ala437=)
1g.114677923G>ACA341748967AMPD1c.1199C>T (p.Ala400Val)
c.1211C>T (p.Ala404Val)
c.994C>T (n.994C>T)
n.876C>T
c.1298C>T (p.Ala433Val)
c.1310C>T (p.Ala437Val)
1g.114677923G>CCA341748968AMPD1c.1199C>G (p.Ala400Gly)
c.1211C>G (p.Ala404Gly)
c.994C>G (n.994C>G)
n.876C>G
c.1298C>G (p.Ala433Gly)
c.1310C>G (p.Ala437Gly)
gnomAD v4
1g.114677923G>TCA341748969AMPD1c.1199C>A (p.Ala400Asp)
c.1211C>A (p.Ala404Asp)
c.994C>A (n.994C>A)
n.876C>A
c.1298C>A (p.Ala433Asp)
c.1310C>A (p.Ala437Asp)
1g.114677924C>ACA341748971AMPD1c.1198G>T (p.Ala400Ser)
c.1210G>T (p.Ala404Ser)
c.993G>T (n.993G>T)
n.875G>T
c.1297G>T (p.Ala433Ser)
c.1309G>T (p.Ala437Ser)
1g.114677924C=CA1190276596AMPD1c.1198G= (p.Ala400=)
c.1210G= (p.Ala404=)
c.993G= (n.993G=)
n.875G=
c.1297G= (p.Ala433=)
c.1309G= (p.Ala437=)
1g.114677924C>GCA341748970AMPD1c.1198G>C (p.Ala400Pro)
c.1210G>C (p.Ala404Pro)
c.993G>C (n.993G>C)
n.875G>C
c.1297G>C (p.Ala433Pro)
c.1309G>C (p.Ala437Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.114677924C>TCA1020192AMPD1c.1198G>A (p.Ala400Thr)
c.1210G>A (p.Ala404Thr)
c.993G>A (n.993G>A)
n.875G>A
c.1297G>A (p.Ala433Thr)
c.1309G>A (p.Ala437Thr)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched