Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.114677943G>ACA1020195AMPD1c.1179C>T (p.Tyr393=)
c.1191C>T (p.Tyr397=)
c.974C>T (n.974C>T)
n.856C>T
c.1278C>T (p.Tyr426=)
c.1290C>T (p.Tyr430=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114677943G>CCA341749018AMPD1c.1179C>G (p.Tyr393Ter)
c.1191C>G (p.Tyr397Ter)
c.974C>G (n.974C>G)
n.856C>G
c.1278C>G (p.Tyr426Ter)
c.1290C>G (p.Tyr430Ter)
1g.114677943G=CA1147604236AMPD1c.1179C= (p.Tyr393=)
c.1191C= (p.Tyr397=)
c.974C= (n.974C=)
n.856C=
c.1278C= (p.Tyr426=)
c.1290C= (p.Tyr430=)
1g.114677943G>TCA341749017AMPD1c.1179C>A (p.Tyr393Ter)
c.1191C>A (p.Tyr397Ter)
c.974C>A (n.974C>A)
n.856C>A
c.1278C>A (p.Tyr426Ter)
c.1290C>A (p.Tyr430Ter)
1g.114677944T>ACA341749019AMPD1c.1178A>T (p.Tyr393Phe)
c.1190A>T (p.Tyr397Phe)
c.973A>T (n.973A>T)
n.855A>T
c.1277A>T (p.Tyr426Phe)
c.1289A>T (p.Tyr430Phe)
1g.114677944T>CCA341749021AMPD1c.1178A>G (p.Tyr393Cys)
c.1190A>G (p.Tyr397Cys)
c.973A>G (n.973A>G)
n.855A>G
c.1277A>G (p.Tyr426Cys)
c.1289A>G (p.Tyr430Cys)
1g.114677944T>GCA341749020AMPD1c.1178A>C (p.Tyr393Ser)
c.1190A>C (p.Tyr397Ser)
c.973A>C (n.973A>C)
n.855A>C
c.1277A>C (p.Tyr426Ser)
c.1289A>C (p.Tyr430Ser)
1g.114677945A>CCA341749022AMPD1c.1177T>G (p.Tyr393Asp)
c.1189T>G (p.Tyr397Asp)
c.972T>G (n.972T>G)
n.854T>G
c.1276T>G (p.Tyr426Asp)
c.1288T>G (p.Tyr430Asp)
1g.114677945A>GCA341749023AMPD1c.1177T>C (p.Tyr393His)
c.1189T>C (p.Tyr397His)
c.972T>C (n.972T>C)
n.854T>C
c.1276T>C (p.Tyr426His)
c.1288T>C (p.Tyr430His)
1g.114677945A>TCA341749024AMPD1c.1177T>A (p.Tyr393Asn)
c.1189T>A (p.Tyr397Asn)
c.972T>A (n.972T>A)
n.854T>A
c.1276T>A (p.Tyr426Asn)
c.1288T>A (p.Tyr430Asn)
1g.114677946A=CA1144641302AMPD1c.1176T= (p.Asn392=)
c.1188T= (p.Asn396=)
c.971T= (n.971T=)
n.853T=
c.1275T= (p.Asn425=)
c.1287T= (p.Asn429=)
1g.114677946A>CCA341749025AMPD1c.1176T>G (p.Asn392Lys)
c.1188T>G (p.Asn396Lys)
c.971T>G (n.971T>G)
n.853T>G
c.1275T>G (p.Asn425Lys)
c.1287T>G (p.Asn429Lys)
1g.114677946A>GCA1020196AMPD1c.1176T>C (p.Asn392=)
c.1188T>C (p.Asn396=)
c.971T>C (n.971T>C)
n.853T>C
c.1275T>C (p.Asn425=)
c.1287T>C (p.Asn429=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114677946A>TCA341749026AMPD1c.1176T>A (p.Asn392Lys)
c.1188T>A (p.Asn396Lys)
c.971T>A (n.971T>A)
n.853T>A
c.1275T>A (p.Asn425Lys)
c.1287T>A (p.Asn429Lys)
1g.114677947T>ACA341749027AMPD1c.1175A>T (p.Asn392Ile)
c.1187A>T (p.Asn396Ile)
c.970A>T (n.970A>T)
n.852A>T
c.1274A>T (p.Asn425Ile)
c.1286A>T (p.Asn429Ile)
1g.114677947T>CCA341749028AMPD1c.1175A>G (p.Asn392Ser)
c.1187A>G (p.Asn396Ser)
c.970A>G (n.970A>G)
n.852A>G
c.1274A>G (p.Asn425Ser)
c.1286A>G (p.Asn429Ser)
1g.114677947T>GCA341749029AMPD1c.1175A>C (p.Asn392Thr)
c.1187A>C (p.Asn396Thr)
c.970A>C (n.970A>C)
n.852A>C
c.1274A>C (p.Asn425Thr)
c.1286A>C (p.Asn429Thr)
1g.114677947_114677951delinsTTGTCCA1190276605AMPD1c.1171_1175delinsGACAA (p.Asp391=)
c.1183_1187delinsGACAA (p.Asp395=)
c.966_970delinsGACAA (n.966_970delinsGACAA)
n.848_852delinsGACAA
c.1270_1274delinsGACAA (p.Asp424=)
c.1282_1286delinsGACAA (p.Asp428=)
1g.114677948T>ACA341749030AMPD1c.1174A>T (p.Asn392Tyr)
c.1186A>T (p.Asn396Tyr)
c.969A>T (n.969A>T)
n.851A>T
c.1273A>T (p.Asn425Tyr)
c.1285A>T (p.Asn429Tyr)
1g.114677948T>CCA341749031AMPD1c.1174A>G (p.Asn392Asp)
c.1186A>G (p.Asn396Asp)
c.969A>G (n.969A>G)
n.851A>G
c.1273A>G (p.Asn425Asp)
c.1285A>G (p.Asn429Asp)
 gnomAD v4
1g.114677948T>GCA341749032AMPD1c.1174A>C (p.Asn392His)
c.1186A>C (p.Asn396His)
c.969A>C (n.969A>C)
n.851A>C
c.1273A>C (p.Asn425His)
c.1285A>C (p.Asn429His)
1g.114677953_114677956delCA29055300AMPD1c.1171_1174del (p.Asp391IlefsTer15)
c.1183_1186del (p.Asp395IlefsTer15)
c.966_969del (n.966_969del)
n.848_851del
c.1270_1273del (p.Asp424IlefsTer15)
c.1282_1285del (p.Asp428IlefsTer15)
 dbSNP gnomAD v3 gnomAD v4
1g.114677949G>ACA29055320AMPD1c.1173C>T (p.Asp391=)
c.1185C>T (p.Asp395=)
c.968C>T (n.968C>T)
n.850C>T
c.1272C>T (p.Asp424=)
c.1284C>T (p.Asp428=)
 dbSNP
1g.114677949G>CCA341749034AMPD1c.1173C>G (p.Asp391Glu)
c.1185C>G (p.Asp395Glu)
c.968C>G (n.968C>G)
n.850C>G
c.1272C>G (p.Asp424Glu)
c.1284C>G (p.Asp428Glu)
 gnomAD v4
1g.114677949G=CA1190276606AMPD1c.1173C= (p.Asp391=)
c.1185C= (p.Asp395=)
c.968C= (n.968C=)
n.850C=
c.1272C= (p.Asp424=)
c.1284C= (p.Asp428=)
1g.114677949G>TCA341749033AMPD1c.1173C>A (p.Asp391Glu)
c.1185C>A (p.Asp395Glu)
c.968C>A (n.968C>A)
n.850C>A
c.1272C>A (p.Asp424Glu)
c.1284C>A (p.Asp428Glu)
1g.114677950T>ACA341749035AMPD1c.1172A>T (p.Asp391Val)
c.1184A>T (p.Asp395Val)
c.967A>T (n.967A>T)
n.849A>T
c.1271A>T (p.Asp424Val)
c.1283A>T (p.Asp428Val)
1g.114677950T>CCA1020197AMPD1c.1172A>G (p.Asp391Gly)
c.1184A>G (p.Asp395Gly)
c.967A>G (n.967A>G)
n.849A>G
c.1271A>G (p.Asp424Gly)
c.1283A>G (p.Asp428Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.114677950T>GCA341749036AMPD1c.1172A>C (p.Asp391Ala)
c.1184A>C (p.Asp395Ala)
c.967A>C (n.967A>C)
n.849A>C
c.1271A>C (p.Asp424Ala)
c.1283A>C (p.Asp428Ala)
1g.114677950T=CA1190276607AMPD1c.1172A= (p.Asp391=)
c.1184A= (p.Asp395=)
c.967A= (n.967A=)
n.849A=
c.1271A= (p.Asp424=)
c.1283A= (p.Asp428=)
1g.114677951C>ACA341749037AMPD1c.1171G>T (p.Asp391Tyr)
c.1183G>T (p.Asp395Tyr)
c.966G>T (n.966G>T)
n.848G>T
c.1270G>T (p.Asp424Tyr)
c.1282G>T (p.Asp428Tyr)
1g.114677951C=CA1145794039AMPD1c.1171G= (p.Asp391=)
c.1183G= (p.Asp395=)
c.966G= (n.966G=)
n.848G=
c.1270G= (p.Asp424=)
c.1282G= (p.Asp428=)
1g.114677951C>GCA341749038AMPD1c.1171G>C (p.Asp391His)
c.1183G>C (p.Asp395His)
c.966G>C (n.966G>C)
n.848G>C
c.1270G>C (p.Asp424His)
c.1282G>C (p.Asp428His)
1g.114677951C>TCA1020198AMPD1c.1171G>A (p.Asp391Asn)
c.1183G>A (p.Asp395Asn)
c.966G>A (n.966G>A)
n.848G>A
c.1270G>A (p.Asp424Asn)
c.1282G>A (p.Asp428Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114677952T>ACA419883092AMPD1c.1170A>T (p.Thr390=)
c.1182A>T (p.Thr394=)
c.965A>T (n.965A>T)
n.847A>T
c.1269A>T (p.Thr423=)
c.1281A>T (p.Thr427=)
1g.114677952T>CCA419883093AMPD1c.1170A>G (p.Thr390=)
c.1182A>G (p.Thr394=)
c.965A>G (n.965A>G)
n.847A>G
c.1269A>G (p.Thr423=)
c.1281A>G (p.Thr427=)
 dbSNP gnomAD v3 gnomAD v4
1g.114677952T>GCA419883094AMPD1c.1170A>C (p.Thr390=)
c.1182A>C (p.Thr394=)
c.965A>C (n.965A>C)
n.847A>C
c.1269A>C (p.Thr423=)
c.1281A>C (p.Thr427=)
1g.114677952T=CA1190276608AMPD1c.1170A= (p.Thr390=)
c.1182A= (p.Thr394=)
c.965A= (n.965A=)
n.847A=
c.1269A= (p.Thr423=)
c.1281A= (p.Thr427=)
1g.114677953G>ACA341749039AMPD1c.1169C>T (p.Thr390Ile)
c.1181C>T (p.Thr394Ile)
c.964C>T (n.964C>T)
n.846C>T
c.1268C>T (p.Thr423Ile)
c.1280C>T (p.Thr427Ile)
 gnomAD v4
1g.114677953G>CCA341749040AMPD1c.1169C>G (p.Thr390Arg)
c.1181C>G (p.Thr394Arg)
c.964C>G (n.964C>G)
n.846C>G
c.1268C>G (p.Thr423Arg)
c.1280C>G (p.Thr427Arg)
1g.114677953G>TCA341749041AMPD1c.1169C>A (p.Thr390Lys)
c.1181C>A (p.Thr394Lys)
c.964C>A (n.964C>A)
n.846C>A
c.1268C>A (p.Thr423Lys)
c.1280C>A (p.Thr427Lys)
1g.114677954T>ACA341749042AMPD1c.1168A>T (p.Thr390Ser)
c.1180A>T (p.Thr394Ser)
c.963A>T (n.963A>T)
n.845A>T
c.1267A>T (p.Thr423Ser)
c.1279A>T (p.Thr427Ser)
1g.114677954T>CCA341749043AMPD1c.1168A>G (p.Thr390Ala)
c.1180A>G (p.Thr394Ala)
c.963A>G (n.963A>G)
n.845A>G
c.1267A>G (p.Thr423Ala)
c.1279A>G (p.Thr427Ala)
1g.114677954T>GCA341749044AMPD1c.1168A>C (p.Thr390Pro)
c.1180A>C (p.Thr394Pro)
c.963A>C (n.963A>C)
n.845A>C
c.1267A>C (p.Thr423Pro)
c.1279A>C (p.Thr427Pro)
1g.114677955C>ACA341749046AMPD1c.1167G>T (p.Lys389Asn)
c.1179G>T (p.Lys393Asn)
c.962G>T (n.962G>T)
n.844G>T
c.1266G>T (p.Lys422Asn)
c.1278G>T (p.Lys426Asn)
1g.114677955C>GCA341749045AMPD1c.1167G>C (p.Lys389Asn)
c.1179G>C (p.Lys393Asn)
c.962G>C (n.962G>C)
n.844G>C
c.1266G>C (p.Lys422Asn)
c.1278G>C (p.Lys426Asn)
1g.114677955C>TCA419883095AMPD1c.1167G>A (p.Lys389=)
c.1179G>A (p.Lys393=)
c.962G>A (n.962G>A)
n.844G>A
c.1266G>A (p.Lys422=)
c.1278G>A (p.Lys426=)
 gnomAD v4
1g.114677956T>ACA341749047AMPD1c.1166A>T (p.Lys389Met)
c.1178A>T (p.Lys393Met)
c.961A>T (n.961A>T)
n.843A>T
c.1265A>T (p.Lys422Met)
c.1277A>T (p.Lys426Met)
1g.114677956T>CCA341749048AMPD1c.1166A>G (p.Lys389Arg)
c.1178A>G (p.Lys393Arg)
c.961A>G (n.961A>G)
n.843A>G
c.1265A>G (p.Lys422Arg)
c.1277A>G (p.Lys426Arg)
1g.114677956T>GCA341749049AMPD1c.1166A>C (p.Lys389Thr)
c.1178A>C (p.Lys393Thr)
c.961A>C (n.961A>C)
n.843A>C
c.1265A>C (p.Lys422Thr)
c.1277A>C (p.Lys426Thr)
1g.114677957T>ACA341749050AMPD1c.1165A>T (p.Lys389Ter)
c.1177A>T (p.Lys393Ter)
c.960A>T (n.960A>T)
n.842A>T
c.1264A>T (p.Lys422Ter)
c.1276A>T (p.Lys426Ter)
1g.114677957T>CCA29055322AMPD1c.1165A>G (p.Lys389Glu)
c.1177A>G (p.Lys393Glu)
c.960A>G (n.960A>G)
n.842A>G
c.1264A>G (p.Lys422Glu)
c.1276A>G (p.Lys426Glu)
 dbSNP
1g.114677957T>GCA341749051AMPD1c.1165A>C (p.Lys389Gln)
c.1177A>C (p.Lys393Gln)
c.960A>C (n.960A>C)
n.842A>C
c.1264A>C (p.Lys422Gln)
c.1276A>C (p.Lys426Gln)
1g.114677957T=CA1190276609AMPD1c.1165A= (p.Lys389=)
c.1177A= (p.Lys393=)
c.960A= (n.960A=)
n.842A=
c.1264A= (p.Lys422=)
c.1276A= (p.Lys426=)
1g.114677960_114677979delCA2580060835AMPD1c.1146_1165del (p.Leu383AspfsTer6)
c.1158_1177del (p.Leu387AspfsTer6)
c.941_960del (n.941_960del)
n.823_842del
c.1245_1264del (p.Leu416AspfsTer6)
c.1257_1276del (p.Leu420AspfsTer6)
 ClinVar
1g.114677958C>ACA341749052AMPD1c.1164G>T (p.Leu388Phe)
c.1176G>T (p.Leu392Phe)
c.959G>T (n.959G>T)
n.841G>T
c.1263G>T (p.Leu421Phe)
c.1275G>T (p.Leu425Phe)
1g.114677958C>GCA341749053AMPD1c.1164G>C (p.Leu388Phe)
c.1176G>C (p.Leu392Phe)
c.959G>C (n.959G>C)
n.841G>C
c.1263G>C (p.Leu421Phe)
c.1275G>C (p.Leu425Phe)
 gnomAD v4
1g.114677958C>TCA419883096AMPD1c.1164G>A (p.Leu388=)
c.1176G>A (p.Leu392=)
c.959G>A (n.959G>A)
n.841G>A
c.1263G>A (p.Leu421=)
c.1275G>A (p.Leu425=)
1g.114677959A>CCA341749054AMPD1c.1163T>G (p.Leu388Trp)
c.1175T>G (p.Leu392Trp)
c.958T>G (n.958T>G)
n.840T>G
c.1262T>G (p.Leu421Trp)
c.1274T>G (p.Leu425Trp)
1g.114677959A>GCA341749055AMPD1c.1163T>C (p.Leu388Ser)
c.1175T>C (p.Leu392Ser)
c.958T>C (n.958T>C)
n.840T>C
c.1262T>C (p.Leu421Ser)
c.1274T>C (p.Leu425Ser)
 gnomAD v4
1g.114677959A>TCA341749056AMPD1c.1163T>A (p.Leu388Ter)
c.1175T>A (p.Leu392Ter)
c.958T>A (n.958T>A)
n.840T>A
c.1262T>A (p.Leu421Ter)
c.1274T>A (p.Leu425Ter)
1g.114677960A=CA1143685364AMPD1c.1162T= (p.Leu388=)
c.1174T= (p.Leu392=)
c.957T= (n.957T=)
n.839T=
c.1261T= (p.Leu421=)
c.1273T= (p.Leu425=)
1g.114677960A>CCA341749057AMPD1c.1162T>G (p.Leu388Val)
c.1174T>G (p.Leu392Val)
c.957T>G (n.957T>G)
n.839T>G
c.1261T>G (p.Leu421Val)
c.1273T>G (p.Leu425Val)
1g.114677960A>GCA1020199AMPD1c.1162T>C (p.Leu388=)
c.1174T>C (p.Leu392=)
c.957T>C (n.957T>C)
n.839T>C
c.1261T>C (p.Leu421=)
c.1273T>C (p.Leu425=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114677960A>TCA341749058AMPD1c.1162T>A (p.Leu388Met)
c.1174T>A (p.Leu392Met)
c.957T>A (n.957T>A)
n.839T>A
c.1261T>A (p.Leu421Met)
c.1273T>A (p.Leu425Met)
1g.114677961G>ACA419883097AMPD1c.1161C>T (p.Tyr387=)
c.1173C>T (p.Tyr391=)
c.956C>T (n.956C>T)
n.838C>T
c.1260C>T (p.Tyr420=)
c.1272C>T (p.Tyr424=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.114677961G>CCA341749059AMPD1c.1161C>G (p.Tyr387Ter)
c.1173C>G (p.Tyr391Ter)
c.956C>G (n.956C>G)
n.838C>G
c.1260C>G (p.Tyr420Ter)
c.1272C>G (p.Tyr424Ter)
1g.114677961G=CA1190276610AMPD1c.1161C= (p.Tyr387=)
c.1173C= (p.Tyr391=)
c.956C= (n.956C=)
n.838C=
c.1260C= (p.Tyr420=)
c.1272C= (p.Tyr424=)
1g.114677961G>TCA341749060AMPD1c.1161C>A (p.Tyr387Ter)
c.1173C>A (p.Tyr391Ter)
c.956C>A (n.956C>A)
n.838C>A
c.1260C>A (p.Tyr420Ter)
c.1272C>A (p.Tyr424Ter)
1g.114677962T>ACA341749061AMPD1c.1160A>T (p.Tyr387Phe)
c.1172A>T (p.Tyr391Phe)
c.955A>T (n.955A>T)
n.837A>T
c.1259A>T (p.Tyr420Phe)
c.1271A>T (p.Tyr424Phe)
1g.114677962T>CCA341749062AMPD1c.1160A>G (p.Tyr387Cys)
c.1172A>G (p.Tyr391Cys)
c.955A>G (n.955A>G)
n.837A>G
c.1259A>G (p.Tyr420Cys)
c.1271A>G (p.Tyr424Cys)
 dbSNP gnomAD v2 gnomAD v4
1g.114677962T>GCA341749063AMPD1c.1160A>C (p.Tyr387Ser)
c.1172A>C (p.Tyr391Ser)
c.955A>C (n.955A>C)
n.837A>C
c.1259A>C (p.Tyr420Ser)
c.1271A>C (p.Tyr424Ser)
1g.114677962T=CA1190276611AMPD1c.1160A= (p.Tyr387=)
c.1172A= (p.Tyr391=)
c.955A= (n.955A=)
n.837A=
c.1259A= (p.Tyr420=)
c.1271A= (p.Tyr424=)
1g.114677963A>CCA341749064AMPD1c.1159T>G (p.Tyr387Asp)
c.1171T>G (p.Tyr391Asp)
c.954T>G (n.954T>G)
n.836T>G
c.1258T>G (p.Tyr420Asp)
c.1270T>G (p.Tyr424Asp)
1g.114677963A>GCA341749065AMPD1c.1159T>C (p.Tyr387His)
c.1171T>C (p.Tyr391His)
c.954T>C (n.954T>C)
n.836T>C
c.1258T>C (p.Tyr420His)
c.1270T>C (p.Tyr424His)
1g.114677963A>TCA341749066AMPD1c.1159T>A (p.Tyr387Asn)
c.1171T>A (p.Tyr391Asn)
c.954T>A (n.954T>A)
n.836T>A
c.1258T>A (p.Tyr420Asn)
c.1270T>A (p.Tyr424Asn)
1g.114677964G>ACA419883098AMPD1c.1158C>T (p.Leu386=)
c.1170C>T (p.Leu390=)
c.953C>T (n.953C>T)
n.835C>T
c.1257C>T (p.Leu419=)
c.1269C>T (p.Leu423=)
 dbSNP gnomAD v2 gnomAD v4
1g.114677964G>CCA1020200AMPD1c.1158C>G (p.Leu386=)
c.1170C>G (p.Leu390=)
c.953C>G (n.953C>G)
n.835C>G
c.1257C>G (p.Leu419=)
c.1269C>G (p.Leu423=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.114677964G=CA1147214060AMPD1c.1158C= (p.Leu386=)
c.1170C= (p.Leu390=)
c.953C= (n.953C=)
n.835C=
c.1257C= (p.Leu419=)
c.1269C= (p.Leu423=)
1g.114677964G>TCA419883099AMPD1c.1158C>A (p.Leu386=)
c.1170C>A (p.Leu390=)
c.953C>A (n.953C>A)
n.835C>A
c.1257C>A (p.Leu419=)
c.1269C>A (p.Leu423=)
1g.114677965A>CCA341749067AMPD1c.1157T>G (p.Leu386Arg)
c.1169T>G (p.Leu390Arg)
c.952T>G (n.952T>G)
n.834T>G
c.1256T>G (p.Leu419Arg)
c.1268T>G (p.Leu423Arg)
1g.114677965A>GCA341749068AMPD1c.1157T>C (p.Leu386Pro)
c.1169T>C (p.Leu390Pro)
c.952T>C (n.952T>C)
n.834T>C
c.1256T>C (p.Leu419Pro)
c.1268T>C (p.Leu423Pro)
1g.114677965A>TCA341749069AMPD1c.1157T>A (p.Leu386His)
c.1169T>A (p.Leu390His)
c.952T>A (n.952T>A)
n.834T>A
c.1256T>A (p.Leu419His)
c.1268T>A (p.Leu423His)
1g.114677966G>ACA341749070AMPD1c.1156C>T (p.Leu386Phe)
c.1168C>T (p.Leu390Phe)
c.951C>T (n.951C>T)
n.833C>T
c.1255C>T (p.Leu419Phe)
c.1267C>T (p.Leu423Phe)
1g.114677966G>CCA341749071AMPD1c.1156C>G (p.Leu386Val)
c.1168C>G (p.Leu390Val)
c.951C>G (n.951C>G)
n.833C>G
c.1255C>G (p.Leu419Val)
c.1267C>G (p.Leu423Val)
1g.114677966G>TCA341749072AMPD1c.1156C>A (p.Leu386Ile)
c.1168C>A (p.Leu390Ile)
c.951C>A (n.951C>A)
n.833C>A
c.1255C>A (p.Leu419Ile)
c.1267C>A (p.Leu423Ile)
1g.114677967G>ACA419883100AMPD1c.1155C>T (p.Asp385=)
c.1167C>T (p.Asp389=)
c.950C>T (n.950C>T)
n.832C>T
c.1254C>T (p.Asp418=)
c.1266C>T (p.Asp422=)
 dbSNP
1g.114677967G>CCA341749074AMPD1c.1155C>G (p.Asp385Glu)
c.1167C>G (p.Asp389Glu)
c.950C>G (n.950C>G)
n.832C>G
c.1254C>G (p.Asp418Glu)
c.1266C>G (p.Asp422Glu)
 gnomAD v4
1g.114677967G=CA1190276612AMPD1c.1155C= (p.Asp385=)
c.1167C= (p.Asp389=)
c.950C= (n.950C=)
n.832C=
c.1254C= (p.Asp418=)
c.1266C= (p.Asp422=)
1g.114677967G>TCA341749073AMPD1c.1155C>A (p.Asp385Glu)
c.1167C>A (p.Asp389Glu)
c.950C>A (n.950C>A)
n.832C>A
c.1254C>A (p.Asp418Glu)
c.1266C>A (p.Asp422Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.114677968T>ACA341749075AMPD1c.1154A>T (p.Asp385Val)
c.1166A>T (p.Asp389Val)
c.949A>T (n.949A>T)
n.831A>T
c.1253A>T (p.Asp418Val)
c.1265A>T (p.Asp422Val)
 ClinVar gnomAD v4
1g.114677968T>CCA341749077AMPD1c.1154A>G (p.Asp385Gly)
c.1166A>G (p.Asp389Gly)
c.949A>G (n.949A>G)
n.831A>G
c.1253A>G (p.Asp418Gly)
c.1265A>G (p.Asp422Gly)
1g.114677968T>GCA341749076AMPD1c.1154A>C (p.Asp385Ala)
c.1166A>C (p.Asp389Ala)
c.949A>C (n.949A>C)
n.831A>C
c.1253A>C (p.Asp418Ala)
c.1265A>C (p.Asp422Ala)
1g.114677969C>ACA341749078AMPD1c.1153G>T (p.Asp385Tyr)
c.1165G>T (p.Asp389Tyr)
c.948G>T (n.948G>T)
n.830G>T
c.1252G>T (p.Asp418Tyr)
c.1264G>T (p.Asp422Tyr)
1g.114677969C>GCA341749080AMPD1c.1153G>C (p.Asp385His)
c.1165G>C (p.Asp389His)
c.948G>C (n.948G>C)
n.830G>C
c.1252G>C (p.Asp418His)
c.1264G>C (p.Asp422His)
1g.114677969C>TCA341749079AMPD1c.1153G>A (p.Asp385Asn)
c.1165G>A (p.Asp389Asn)
c.948G>A (n.948G>A)
n.830G>A
c.1252G>A (p.Asp418Asn)
c.1264G>A (p.Asp422Asn)
 gnomAD v4
1g.114677971delCA2510837571AMPD1c.1153del (p.Asp385ThrfsTer4)
c.1165del (p.Asp389ThrfsTer4)
c.948del (n.948del)
n.830del
c.1252del (p.Asp418ThrfsTer4)
c.1264del (p.Asp422ThrfsTer4)
1g.114677970C>ACA419883102AMPD1c.1152G>T (p.Arg384=)
c.1164G>T (p.Arg388=)
c.947G>T (n.947G>T)
n.829G>T
c.1251G>T (p.Arg417=)
c.1263G>T (p.Arg421=)
1g.114677970C=CA1190276613AMPD1c.1152G= (p.Arg384=)
c.1164G= (p.Arg388=)
c.947G= (n.947G=)
n.829G=
c.1251G= (p.Arg417=)
c.1263G= (p.Arg421=)
1g.114677970C>GCA419883101AMPD1c.1152G>C (p.Arg384=)
c.1164G>C (p.Arg388=)
c.947G>C (n.947G>C)
n.829G>C
c.1251G>C (p.Arg417=)
c.1263G>C (p.Arg421=)
1g.114677970C>TCA1020201AMPD1c.1152G>A (p.Arg384=)
c.1164G>A (p.Arg388=)
c.947G>A (n.947G>A)
n.829G>A
c.1251G>A (p.Arg417=)
c.1263G>A (p.Arg421=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114677971C>ACA341749081AMPD1c.1151G>T (p.Arg384Leu)
c.1163G>T (p.Arg388Leu)
c.946G>T (n.946G>T)
n.828G>T
c.1250G>T (p.Arg417Leu)
c.1262G>T (p.Arg421Leu)
1g.114677971C=CA1190276614AMPD1c.1151G= (p.Arg384=)
c.1163G= (p.Arg388=)
c.946G= (n.946G=)
n.828G=
c.1250G= (p.Arg417=)
c.1262G= (p.Arg421=)
1g.114677971C>GCA341749082AMPD1c.1151G>C (p.Arg384Pro)
c.1163G>C (p.Arg388Pro)
c.946G>C (n.946G>C)
n.828G>C
c.1250G>C (p.Arg417Pro)
c.1262G>C (p.Arg421Pro)
1g.114677971C>TCA1020202AMPD1c.1151G>A (p.Arg384Gln)
c.1163G>A (p.Arg388Gln)
c.946G>A (n.946G>A)
n.828G>A
c.1250G>A (p.Arg417Gln)
c.1262G>A (p.Arg421Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114677972G>ACA128024AMPD1c.1150C>T (p.Arg384Trp)
c.1162C>T (p.Arg388Trp)
c.945C>T (n.945C>T)
n.827C>T
c.1249C>T (p.Arg417Trp)
c.1261C>T (p.Arg421Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114677972G>CCA341749083AMPD1c.1150C>G (p.Arg384Gly)
c.1162C>G (p.Arg388Gly)
c.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=)
c.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=)
c.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=)
c.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=)
c.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=)
c.944A>C (n.944A>C)
n.826A>C
c.1248A>C (p.Leu416=)
c.1260A>C (p.Leu420=)
 gnomAD v4
1g.114677974A>CCA341749084AMPD1c.1148T>G (p.Leu383Arg)
c.1160T>G (p.Leu387Arg)
c.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)
c.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)
c.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=)
c.942C>T (n.942C>T)
n.824C>T
c.1246C>T (p.Leu416=)
c.1258C>T (p.Leu420=)
 gnomAD v4
1g.114677975G>CCA341749087AMPD1c.1147C>G (p.Leu383Val)
c.1159C>G (p.Leu387Val)
c.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)
c.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)
c.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)
c.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=)
c.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)
c.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)
c.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)
c.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)
c.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=)
c.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)
c.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)
c.939G>A (n.939G>A)
n.821G>A
c.1243G>A (p.Glu415Lys)
c.1255G>A (p.Glu419Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.114677979A>CCA341749096AMPD1c.1143T>G (p.Ser381Arg)
c.1155T>G (p.Ser385Arg)
c.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=)
c.938T>C (n.938T>C)
n.820T>C
c.1242T>C (p.Ser414=)
c.1254T>C (p.Ser418=)
 gnomAD v4
1g.114677979A>TCA341749097AMPD1c.1143T>A (p.Ser381Arg)
c.1155T>A (p.Ser385Arg)
c.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)
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
1g.114677993G>CCA341749121AMPD1c.1129C>G (p.Pro377Ala)
c.1141C>G (p.Pro381Ala)
c.924C>G (n.924C>G)
n.806C>G
c.1228C>G (p.Pro410Ala)
c.1240C>G (p.Pro414Ala)
1g.114677993G=CA1190276622AMPD1c.1129C= (p.Pro377=)
c.1141C= (p.Pro381=)
c.924C= (n.924C=)
n.806C=
c.1228C= (p.Pro410=)
c.1240C= (p.Pro414=)
1g.114677993G>TCA341749122AMPD1c.1129C>A (p.Pro377Thr)
c.1141C>A (p.Pro381Thr)
c.924C>A (n.924C>A)
n.806C>A
c.1228C>A (p.Pro410Thr)
c.1240C>A (p.Pro414Thr)
1g.114677994A=CA1143581691AMPD1c.1128T= (p.Asn376=)
c.1140T= (p.Asn380=)
c.923T= (n.923T=)
n.805T=
c.1227T= (p.Asn409=)
c.1239T= (p.Asn413=)
1g.114677994A>CCA341749123AMPD1c.1128T>G (p.Asn376Lys)
c.1140T>G (p.Asn380Lys)
c.923T>G (n.923T>G)
n.805T>G
c.1227T>G (p.Asn409Lys)
c.1239T>G (p.Asn413Lys)
1g.114677994A>GCA29055386AMPD1c.1128T>C (p.Asn376=)
c.1140T>C (p.Asn380=)
c.923T>C (n.923T>C)
n.805T>C
c.1227T>C (p.Asn409=)
c.1239T>C (p.Asn413=)
 dbSNP gnomAD v4
1g.114677994A>TCA341749124AMPD1c.1128T>A (p.Asn376Lys)
c.1140T>A (p.Asn380Lys)
c.923T>A (n.923T>A)
n.805T>A
c.1227T>A (p.Asn409Lys)
c.1239T>A (p.Asn413Lys)
 gnomAD v4
1g.114677995T>ACA341749127AMPD1c.1127A>T (p.Asn376Ile)
c.1139A>T (p.Asn380Ile)
c.922A>T (n.922A>T)
n.804A>T
c.1226A>T (p.Asn409Ile)
c.1238A>T (p.Asn413Ile)
1g.114677995T>CCA341749126AMPD1c.1127A>G (p.Asn376Ser)
c.1139A>G (p.Asn380Ser)
c.922A>G (n.922A>G)
n.804A>G
c.1226A>G (p.Asn409Ser)
c.1238A>G (p.Asn413Ser)
1g.114677995T>GCA341749125AMPD1c.1127A>C (p.Asn376Thr)
c.1139A>C (p.Asn380Thr)
c.922A>C (n.922A>C)
n.804A>C
c.1226A>C (p.Asn409Thr)
c.1238A>C (p.Asn413Thr)
1g.114677996T>ACA341749129AMPD1c.1126A>T (p.Asn376Tyr)
c.1138A>T (p.Asn380Tyr)
c.921A>T (n.921A>T)
n.803A>T
c.1225A>T (p.Asn409Tyr)
c.1237A>T (p.Asn413Tyr)
1g.114677996T>CCA341749128AMPD1c.1126A>G (p.Asn376Asp)
c.1138A>G (p.Asn380Asp)
c.921A>G (n.921A>G)
n.803A>G
c.1225A>G (p.Asn409Asp)
c.1237A>G (p.Asn413Asp)
1g.114677996T>GCA341749130AMPD1c.1126A>C (p.Asn376His)
c.1138A>C (p.Asn380His)
c.921A>C (n.921A>C)
n.803A>C
c.1225A>C (p.Asn409His)
c.1237A>C (p.Asn413His)
1g.114677997A>CCA341749131AMPD1c.1125T>G (p.Tyr375Ter)
c.1137T>G (p.Tyr379Ter)
c.920T>G (n.920T>G)
n.802T>G
c.1224T>G (p.Tyr408Ter)
c.1236T>G (p.Tyr412Ter)
1g.114677997A>GCA419883121AMPD1c.1125T>C (p.Tyr375=)
c.1137T>C (p.Tyr379=)
c.920T>C (n.920T>C)
n.802T>C
c.1224T>C (p.Tyr408=)
c.1236T>C (p.Tyr412=)
1g.114677997A>TCA341749132AMPD1c.1125T>A (p.Tyr375Ter)
c.1137T>A (p.Tyr379Ter)
c.920T>A (n.920T>A)
n.802T>A
c.1224T>A (p.Tyr408Ter)
c.1236T>A (p.Tyr412Ter)
1g.114677998T>ACA341749133AMPD1c.1124A>T (p.Tyr375Phe)
c.1136A>T (p.Tyr379Phe)
c.919A>T (n.919A>T)
n.801A>T
c.1223A>T (p.Tyr408Phe)
c.1235A>T (p.Tyr412Phe)
1g.114677998T>CCA341749134AMPD1c.1124A>G (p.Tyr375Cys)
c.1136A>G (p.Tyr379Cys)
c.919A>G (n.919A>G)
n.801A>G
c.1223A>G (p.Tyr408Cys)
c.1235A>G (p.Tyr412Cys)
1g.114677998T>GCA341749135AMPD1c.1124A>C (p.Tyr375Ser)
c.1136A>C (p.Tyr379Ser)
c.919A>C (n.919A>C)
n.801A>C
c.1223A>C (p.Tyr408Ser)
c.1235A>C (p.Tyr412Ser)
1g.114677999A>CCA341749136AMPD1c.1123T>G (p.Tyr375Asp)
c.1135T>G (p.Tyr379Asp)
c.918T>G (n.918T>G)
n.800T>G
c.1222T>G (p.Tyr408Asp)
c.1234T>G (p.Tyr412Asp)
1g.114677999A>GCA341749137AMPD1c.1123T>C (p.Tyr375His)
c.1135T>C (p.Tyr379His)
c.918T>C (n.918T>C)
n.800T>C
c.1222T>C (p.Tyr408His)
c.1234T>C (p.Tyr412His)
 gnomAD v4
1g.114677999A>TCA341749138AMPD1c.1123T>A (p.Tyr375Asn)
c.1135T>A (p.Tyr379Asn)
c.918T>A (n.918T>A)
n.800T>A
c.1222T>A (p.Tyr408Asn)
c.1234T>A (p.Tyr412Asn)
1g.114677999_114678001delinsATTCA1190276623AMPD1c.1121_1123delinsAAT (p.Lys374=)
c.1133_1135delinsAAT (p.Lys378=)
c.916_918delinsAAT (n.916_918delinsAAT)
n.798_800delinsAAT
c.1220_1222delinsAAT (p.Lys407=)
c.1232_1234delinsAAT (p.Lys411=)
1g.114678000T>ACA341749139AMPD1c.1122A>T (p.Lys374Asn)
c.1134A>T (p.Lys378Asn)
c.917A>T (n.917A>T)
n.799A>T
c.1221A>T (p.Lys407Asn)
c.1233A>T (p.Lys411Asn)
1g.114678000T>CCA419883122AMPD1c.1122A>G (p.Lys374=)
c.1134A>G (p.Lys378=)
c.917A>G (n.917A>G)
n.799A>G
c.1221A>G (p.Lys407=)
c.1233A>G (p.Lys411=)
1g.114678000T>GCA341749140AMPD1c.1122A>C (p.Lys374Asn)
c.1134A>C (p.Lys378Asn)
c.917A>C (n.917A>C)
n.799A>C
c.1221A>C (p.Lys407Asn)
c.1233A>C (p.Lys411Asn)
1g.114678001_114678002delCA525418509AMPD1c.1121_1122del (p.Lys374IlefsTer2)
c.1133_1134del (p.Lys378IlefsTer2)
c.916_917del (n.916_917del)
n.798_799del
c.1220_1221del (p.Lys407IlefsTer2)
c.1232_1233del (p.Lys411IlefsTer2)
 dbSNP gnomAD v2 gnomAD v4
1g.114678001T>ACA341749141AMPD1c.1121A>T (p.Lys374Ile)
c.1133A>T (p.Lys378Ile)
c.916A>T (n.916A>T)
n.798A>T
c.1220A>T (p.Lys407Ile)
c.1232A>T (p.Lys411Ile)
1g.114678001T>CCA341749142AMPD1c.1121A>G (p.Lys374Arg)
c.1133A>G (p.Lys378Arg)
c.916A>G (n.916A>G)
n.798A>G
c.1220A>G (p.Lys407Arg)
c.1232A>G (p.Lys411Arg)
 dbSNP
1g.114678001T>GCA341749143AMPD1c.1121A>C (p.Lys374Thr)
c.1133A>C (p.Lys378Thr)
c.916A>C (n.916A>C)
n.798A>C
c.1220A>C (p.Lys407Thr)
c.1232A>C (p.Lys411Thr)
1g.114678001T=CA1190276624AMPD1c.1121A= (p.Lys374=)
c.1133A= (p.Lys378=)
c.916A= (n.916A=)
n.798A=
c.1220A= (p.Lys407=)
c.1232A= (p.Lys411=)
1g.114678002T>ACA341749144AMPD1c.1120A>T (p.Lys374Ter)
c.1132A>T (p.Lys378Ter)
c.915A>T (n.915A>T)
n.797A>T
c.1219A>T (p.Lys407Ter)
c.1231A>T (p.Lys411Ter)
1g.114678002T>CCA341749145AMPD1c.1120A>G (p.Lys374Glu)
c.1132A>G (p.Lys378Glu)
c.915A>G (n.915A>G)
n.797A>G
c.1219A>G (p.Lys407Glu)
c.1231A>G (p.Lys411Glu)
1g.114678002T>GCA29055391AMPD1c.1120A>C (p.Lys374Gln)
c.1132A>C (p.Lys378Gln)
c.915A>C (n.915A>C)
n.797A>C
c.1219A>C (p.Lys407Gln)
c.1231A>C (p.Lys411Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.114678002T=CA1147283936AMPD1c.1120A= (p.Lys374=)
c.1132A= (p.Lys378=)
c.915A= (n.915A=)
n.797A=
c.1219A= (p.Lys407=)
c.1231A= (p.Lys411=)
1g.114678003G>ACA419883123AMPD1c.1119C>T (p.Asp373=)
c.1131C>T (p.Asp377=)
c.914C>T (n.914C>T)
n.796C>T
c.1218C>T (p.Asp406=)
c.1230C>T (p.Asp410=)
 gnomAD v4
1g.114678003G>CCA341749146AMPD1c.1119C>G (p.Asp373Glu)
c.1131C>G (p.Asp377Glu)
c.914C>G (n.914C>G)
n.796C>G
c.1218C>G (p.Asp406Glu)
c.1230C>G (p.Asp410Glu)
1g.114678003G>TCA341749147AMPD1c.1119C>A (p.Asp373Glu)
c.1131C>A (p.Asp377Glu)
c.914C>A (n.914C>A)
n.796C>A
c.1218C>A (p.Asp406Glu)
c.1230C>A (p.Asp410Glu)
1g.114678004T>ACA341749148AMPD1c.1118A>T (p.Asp373Val)
c.1130A>T (p.Asp377Val)
c.913A>T (n.913A>T)
n.795A>T
c.1217A>T (p.Asp406Val)
c.1229A>T (p.Asp410Val)
1g.114678004T>CCA1020208AMPD1c.1118A>G (p.Asp373Gly)
c.1130A>G (p.Asp377Gly)
c.913A>G (n.913A>G)
n.795A>G
c.1217A>G (p.Asp406Gly)
c.1229A>G (p.Asp410Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.114678004T>GCA341749149AMPD1c.1118A>C (p.Asp373Ala)
c.1130A>C (p.Asp377Ala)
c.913A>C (n.913A>C)
n.795A>C
c.1217A>C (p.Asp406Ala)
c.1229A>C (p.Asp410Ala)
1g.114678004T=CA1149060783AMPD1c.1118A= (p.Asp373=)
c.1130A= (p.Asp377=)
c.913A= (n.913A=)
n.795A=
c.1217A= (p.Asp406=)
c.1229A= (p.Asp410=)
1g.114678005delCA2696723539AMPD1c.1117del (p.Asp373ThrfsTer6)
c.1129del (p.Asp377ThrfsTer6)
c.912del (n.912del)
n.794del
c.1216del (p.Asp406ThrfsTer6)
c.1228del (p.Asp410ThrfsTer6)
 dbSNP
1g.114678005C>ACA341749150AMPD1c.1117G>T (p.Asp373Tyr)
c.1129G>T (p.Asp377Tyr)
c.912G>T (n.912G>T)
n.794G>T
c.1216G>T (p.Asp406Tyr)
c.1228G>T (p.Asp410Tyr)
1g.114678005C>GCA341749151AMPD1c.1117G>C (p.Asp373His)
c.1129G>C (p.Asp377His)
c.912G>C (n.912G>C)
n.794G>C
c.1216G>C (p.Asp406His)
c.1228G>C (p.Asp410His)
1g.114678005C>TCA341749152AMPD1c.1117G>A (p.Asp373Asn)
c.1129G>A (p.Asp377Asn)
c.912G>A (n.912G>A)
n.794G>A
c.1216G>A (p.Asp406Asn)
c.1228G>A (p.Asp410Asn)
1g.114678006A>CCA341749153AMPD1c.1116T>G (p.Asn372Lys)
c.1128T>G (p.Asn376Lys)
c.911T>G (n.911T>G)
n.793T>G
c.1215T>G (p.Asn405Lys)
c.1227T>G (p.Asn409Lys)
1g.114678006A>GCA419883124AMPD1c.1116T>C (p.Asn372=)
c.1128T>C (p.Asn376=)
c.911T>C (n.911T>C)
n.793T>C
c.1215T>C (p.Asn405=)
c.1227T>C (p.Asn409=)
 COSMIC COSMIC
1g.114678006A>TCA341749154AMPD1c.1116T>A (p.Asn372Lys)
c.1128T>A (p.Asn376Lys)
c.911T>A (n.911T>A)
n.793T>A
c.1215T>A (p.Asn405Lys)
c.1227T>A (p.Asn409Lys)
1g.114678007T>ACA341749156AMPD1c.1115A>T (p.Asn372Ile)
c.1127A>T (p.Asn376Ile)
c.910A>T (n.910A>T)
n.792A>T
c.1214A>T (p.Asn405Ile)
c.1226A>T (p.Asn409Ile)
1g.114678007T>CCA341749157AMPD1c.1115A>G (p.Asn372Ser)
c.1127A>G (p.Asn376Ser)
c.910A>G (n.910A>G)
n.792A>G
c.1214A>G (p.Asn405Ser)
c.1226A>G (p.Asn409Ser)
1g.114678007T>GCA341749155AMPD1c.1115A>C (p.Asn372Thr)
c.1127A>C (p.Asn376Thr)
c.910A>C (n.910A>C)
n.792A>C
c.1214A>C (p.Asn405Thr)
c.1226A>C (p.Asn409Thr)
1g.114678008T>ACA341749158AMPD1c.1114A>T (p.Asn372Tyr)
c.1126A>T (p.Asn376Tyr)
c.909A>T (n.909A>T)
n.791A>T
c.1213A>T (p.Asn405Tyr)
c.1225A>T (p.Asn409Tyr)
1g.114678008T>CCA341749159AMPD1c.1114A>G (p.Asn372Asp)
c.1126A>G (p.Asn376Asp)
c.909A>G (n.909A>G)
n.791A>G
c.1213A>G (p.Asn405Asp)
c.1225A>G (p.Asn409Asp)
 dbSNP gnomAD v4
1g.114678008T>GCA341749160AMPD1c.1114A>C (p.Asn372His)
c.1126A>C (p.Asn376His)
c.909A>C (n.909A>C)
n.791A>C
c.1213A>C (p.Asn405His)
c.1225A>C (p.Asn409His)
1g.114678008T=CA1190276625AMPD1c.1114A= (p.Asn372=)
c.1126A= (p.Asn376=)
c.909A= (n.909A=)
n.791A=
c.1213A= (p.Asn405=)
c.1225A= (p.Asn409=)
1g.114678009G>ACA419883125AMPD1c.1113C>T (p.Phe371=)
c.1125C>T (p.Phe375=)
c.908C>T (n.908C>T)
n.790C>T
c.1212C>T (p.Phe404=)
c.1224C>T (p.Phe408=)
1g.114678009G>CCA341749161AMPD1c.1113C>G (p.Phe371Leu)
c.1125C>G (p.Phe375Leu)
c.908C>G (n.908C>G)
n.790C>G
c.1212C>G (p.Phe404Leu)
c.1224C>G (p.Phe408Leu)
 ClinVar gnomAD v4
1g.114678009G>TCA341749162AMPD1c.1113C>A (p.Phe371Leu)
c.1125C>A (p.Phe375Leu)
c.908C>A (n.908C>A)
n.790C>A
c.1212C>A (p.Phe404Leu)
c.1224C>A (p.Phe408Leu)
1g.114678010A>CCA341749165AMPD1c.1112T>G (p.Phe371Cys)
c.1124T>G (p.Phe375Cys)
c.907T>G (n.907T>G)
n.789T>G
c.1211T>G (p.Phe404Cys)
c.1223T>G (p.Phe408Cys)
1g.114678010A>GCA341749164AMPD1c.1112T>C (p.Phe371Ser)
c.1124T>C (p.Phe375Ser)
c.907T>C (n.907T>C)
n.789T>C
c.1211T>C (p.Phe404Ser)
c.1223T>C (p.Phe408Ser)
1g.114678010A>TCA341749163AMPD1c.1112T>A (p.Phe371Tyr)
c.1124T>A (p.Phe375Tyr)
c.907T>A (n.907T>A)
n.789T>A
c.1211T>A (p.Phe404Tyr)
c.1223T>A (p.Phe408Tyr)
1g.114678011A=CA1190276626AMPD1c.1111T= (p.Phe371=)
c.1123T= (p.Phe375=)
c.906T= (n.906T=)
n.788T=
c.1210T= (p.Phe404=)
c.1222T= (p.Phe408=)
1g.114678011A>CCA341749166AMPD1c.1111T>G (p.Phe371Val)
c.1123T>G (p.Phe375Val)
c.906T>G (n.906T>G)
n.788T>G
c.1210T>G (p.Phe404Val)
c.1222T>G (p.Phe408Val)
1g.114678011A>GCA341749167AMPD1c.1111T>C (p.Phe371Leu)
c.1123T>C (p.Phe375Leu)
c.906T>C (n.906T>C)
n.788T>C
c.1210T>C (p.Phe404Leu)
c.1222T>C (p.Phe408Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.114678011A>TCA341749168AMPD1c.1111T>A (p.Phe371Ile)
c.1123T>A (p.Phe375Ile)
c.906T>A (n.906T>A)
n.788T>A
c.1210T>A (p.Phe404Ile)
c.1222T>A (p.Phe408Ile)
1g.114678012C>ACA341749169AMPD1c.1110G>T (p.Lys370Asn)
c.1122G>T (p.Lys374Asn)
c.905G>T (n.905G>T)
n.787G>T
c.1209G>T (p.Lys403Asn)
c.1221G>T (p.Lys407Asn)
1g.114678012C=CA1141652543AMPD1c.1110G= (p.Lys370=)
c.1122G= (p.Lys374=)
c.905G= (n.905G=)
n.787G=
c.1209G= (p.Lys403=)
c.1221G= (p.Lys407=)
1g.114678012C>GCA341749170AMPD1c.1110G>C (p.Lys370Asn)
c.1122G>C (p.Lys374Asn)
c.905G>C (n.905G>C)
n.787G>C
c.1209G>C (p.Lys403Asn)
c.1221G>C (p.Lys407Asn)
1g.114678012C>TCA203695AMPD1c.1110G>A (p.Lys370=)
c.1122G>A (p.Lys374=)
c.905G>A (n.905G>A)
n.787G>A
c.1209G>A (p.Lys403=)
c.1221G>A (p.Lys407=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114678013T>ACA341749171AMPD1c.1109A>T (p.Lys370Met)
c.1121A>T (p.Lys374Met)
c.904A>T (n.904A>T)
n.786A>T
c.1208A>T (p.Lys403Met)
c.1220A>T (p.Lys407Met)
 gnomAD v4
1g.114678013T>CCA341749173AMPD1c.1109A>G (p.Lys370Arg)
c.1121A>G (p.Lys374Arg)
c.904A>G (n.904A>G)
n.786A>G
c.1208A>G (p.Lys403Arg)
c.1220A>G (p.Lys407Arg)
1g.114678013T>GCA341749172AMPD1c.1109A>C (p.Lys370Thr)
c.1121A>C (p.Lys374Thr)
c.904A>C (n.904A>C)
n.786A>C
c.1208A>C (p.Lys403Thr)
c.1220A>C (p.Lys407Thr)
 COSMIC COSMIC
1g.114678014T>ACA341749174AMPD1c.1108A>T (p.Lys370Ter)
c.1120A>T (p.Lys374Ter)
c.903A>T (n.903A>T)
n.785A>T
c.1207A>T (p.Lys403Ter)
c.1219A>T (p.Lys407Ter)
1g.114678014T>CCA341749175AMPD1c.1108A>G (p.Lys370Glu)
c.1120A>G (p.Lys374Glu)
c.903A>G (n.903A>G)
n.785A>G
c.1207A>G (p.Lys403Glu)
c.1219A>G (p.Lys407Glu)
1g.114678014T>GCA341749176AMPD1c.1108A>C (p.Lys370Gln)
c.1120A>C (p.Lys374Gln)
c.903A>C (n.903A>C)
n.785A>C
c.1207A>C (p.Lys403Gln)
c.1219A>C (p.Lys407Gln)
1g.114678015A>CCA341749177AMPD1c.1107T>G (p.Asp369Glu)
c.1119T>G (p.Asp373Glu)
c.902T>G (n.902T>G)
n.784T>G
c.1206T>G (p.Asp402Glu)
c.1218T>G (p.Asp406Glu)
1g.114678015A>GCA419883126AMPD1c.1107T>C (p.Asp369=)
c.1119T>C (p.Asp373=)
c.902T>C (n.902T>C)
n.784T>C
c.1206T>C (p.Asp402=)
c.1218T>C (p.Asp406=)
 gnomAD v4
1g.114678015A>TCA341749178AMPD1c.1107T>A (p.Asp369Glu)
c.1119T>A (p.Asp373Glu)
c.902T>A (n.902T>A)
n.784T>A
c.1206T>A (p.Asp402Glu)
c.1218T>A (p.Asp406Glu)
1g.114678016T>ACA341749179AMPD1c.1106A>T (p.Asp369Val)
c.1118A>T (p.Asp373Val)
c.901A>T (n.901A>T)
n.783A>T
c.1205A>T (p.Asp402Val)
c.1217A>T (p.Asp406Val)
1g.114678016T>CCA341749180AMPD1c.1106A>G (p.Asp369Gly)
c.1118A>G (p.Asp373Gly)
c.901A>G (n.901A>G)
n.783A>G
c.1205A>G (p.Asp402Gly)
c.1217A>G (p.Asp406Gly)
 ClinVar dbSNP gnomAD v4
1g.114678016T>GCA341749181AMPD1c.1106A>C (p.Asp369Ala)
c.1118A>C (p.Asp373Ala)
c.901A>C (n.901A>C)
n.783A>C
c.1205A>C (p.Asp402Ala)
c.1217A>C (p.Asp406Ala)
1g.114678016T=CA1190276627AMPD1c.1106A= (p.Asp369=)
c.1118A= (p.Asp373=)
c.901A= (n.901A=)
n.783A=
c.1205A= (p.Asp402=)
c.1217A= (p.Asp406=)
1g.114678017C>ACA341749182AMPD1c.1105G>T (p.Asp369Tyr)
c.1117G>T (p.Asp373Tyr)
c.900G>T (n.900G>T)
n.782G>T
c.1204G>T (p.Asp402Tyr)
c.1216G>T (p.Asp406Tyr)
1g.114678017C=CA1190276628AMPD1c.1105G= (p.Asp369=)
c.1117G= (p.Asp373=)
c.900G= (n.900G=)
n.782G=
c.1204G= (p.Asp402=)
c.1216G= (p.Asp406=)
1g.114678017C>GCA341749183AMPD1c.1105G>C (p.Asp369His)
c.1117G>C (p.Asp373His)
c.900G>C (n.900G>C)
n.782G>C
c.1204G>C (p.Asp402His)
c.1216G>C (p.Asp406His)
1g.114678017C>TCA341749184AMPD1c.1105G>A (p.Asp369Asn)
c.1117G>A (p.Asp373Asn)
c.900G>A (n.900G>A)
n.782G>A
c.1204G>A (p.Asp402Asn)
c.1216G>A (p.Asp406Asn)
 dbSNP
1g.114678018A>CCA341749185AMPD1c.1104T>G (p.Phe368Leu)
c.1116T>G (p.Phe372Leu)
c.899T>G (n.899T>G)
n.781T>G
c.1203T>G (p.Phe401Leu)
c.1215T>G (p.Phe405Leu)
1g.114678018A>GCA419883127AMPD1c.1104T>C (p.Phe368=)
c.1116T>C (p.Phe372=)
c.899T>C (n.899T>C)
n.781T>C
c.1203T>C (p.Phe401=)
c.1215T>C (p.Phe405=)
1g.114678018A>TCA341749186AMPD1c.1104T>A (p.Phe368Leu)
c.1116T>A (p.Phe372Leu)
c.899T>A (n.899T>A)
n.781T>A
c.1203T>A (p.Phe401Leu)
c.1215T>A (p.Phe405Leu)
1g.114678019A=CA1190276629AMPD1c.1103T= (p.Phe368=)
c.1115T= (p.Phe372=)
c.898T= (n.898T=)
n.780T=
c.1202T= (p.Phe401=)
c.1214T= (p.Phe405=)
1g.114678019A>CCA341749189AMPD1c.1103T>G (p.Phe368Cys)
c.1115T>G (p.Phe372Cys)
c.898T>G (n.898T>G)
n.780T>G
c.1202T>G (p.Phe401Cys)
c.1214T>G (p.Phe405Cys)
1g.114678019A>GCA341749188AMPD1c.1103T>C (p.Phe368Ser)
c.1115T>C (p.Phe372Ser)
c.898T>C (n.898T>C)
n.780T>C
c.1202T>C (p.Phe401Ser)
c.1214T>C (p.Phe405Ser)
 dbSNP
1g.114678019A>TCA341749187AMPD1c.1103T>A (p.Phe368Tyr)
c.1115T>A (p.Phe372Tyr)
c.898T>A (n.898T>A)
n.780T>A
c.1202T>A (p.Phe401Tyr)
c.1214T>A (p.Phe405Tyr)
1g.114678020A=CA1190276630AMPD1c.1102T= (p.Phe368=)
c.1114T= (p.Phe372=)
c.897T= (n.897T=)
n.779T=
c.1201T= (p.Phe401=)
c.1213T= (p.Phe405=)
1g.114678020A>CCA341749190AMPD1c.1102T>G (p.Phe368Val)
c.1114T>G (p.Phe372Val)
c.897T>G (n.897T>G)
n.779T>G
c.1201T>G (p.Phe401Val)
c.1213T>G (p.Phe405Val)
 dbSNP
1g.114678020A>GCA341749192AMPD1c.1102T>C (p.Phe368Leu)
c.1114T>C (p.Phe372Leu)
c.897T>C (n.897T>C)
n.779T>C
c.1201T>C (p.Phe401Leu)
c.1213T>C (p.Phe405Leu)
1g.114678020A>TCA341749191AMPD1c.1102T>A (p.Phe368Ile)
c.1114T>A (p.Phe372Ile)
c.897T>A (n.897T>A)
n.779T>A
c.1201T>A (p.Phe401Ile)
c.1213T>A (p.Phe405Ile)
1g.114678021A>CCA419883128AMPD1c.1101T>G (p.Arg367=)
c.1113T>G (p.Arg371=)
c.896T>G (n.896T>G)
n.778T>G
c.1200T>G (p.Arg400=)
c.1212T>G (p.Arg404=)
1g.114678021A>GCA419883129AMPD1c.1101T>C (p.Arg367=)
c.1113T>C (p.Arg371=)
c.896T>C (n.896T>C)
n.778T>C
c.1200T>C (p.Arg400=)
c.1212T>C (p.Arg404=)
1g.114678021A>TCA419883130AMPD1c.1101T>A (p.Arg367=)
c.1113T>A (p.Arg371=)
c.896T>A (n.896T>A)
n.778T>A
c.1200T>A (p.Arg400=)
c.1212T>A (p.Arg404=)
1g.114678022C>ACA341749193AMPD1c.1100G>T (p.Arg367Leu)
c.1112G>T (p.Arg371Leu)
c.895G>T (n.895G>T)
n.777G>T
c.1199G>T (p.Arg400Leu)
c.1211G>T (p.Arg404Leu)
1g.114678022C=CA1142116051AMPD1c.1100G= (p.Arg367=)
c.1112G= (p.Arg371=)
c.895G= (n.895G=)
n.777G=
c.1199G= (p.Arg400=)
c.1211G= (p.Arg404=)
1g.114678022C>GCA341749194AMPD1c.1100G>C (p.Arg367Pro)
c.1112G>C (p.Arg371Pro)
c.895G>C (n.895G>C)
n.777G>C
c.1199G>C (p.Arg400Pro)
c.1211G>C (p.Arg404Pro)
 gnomAD v4
1g.114678022C>TCA1020209AMPD1c.1100G>A (p.Arg367His)
c.1112G>A (p.Arg371His)
c.895G>A (n.895G>A)
n.777G>A
c.1199G>A (p.Arg400His)
c.1211G>A (p.Arg404His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114678023G>ACA1020211AMPD1c.1099C>T (p.Arg367Cys)
c.1111C>T (p.Arg371Cys)
c.894C>T (n.894C>T)
n.776C>T
c.1198C>T (p.Arg400Cys)
c.1210C>T (p.Arg404Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.114678023G>CCA341749195AMPD1c.1099C>G (p.Arg367Gly)
c.1111C>G (p.Arg371Gly)
c.894C>G (n.894C>G)
n.776C>G
c.1198C>G (p.Arg400Gly)
c.1210C>G (p.Arg404Gly)
 gnomAD v4
1g.114678023G=CA1141921479AMPD1c.1099C= (p.Arg367=)
c.1111C= (p.Arg371=)
c.894C= (n.894C=)
n.776C=
c.1198C= (p.Arg400=)
c.1210C= (p.Arg404=)
1g.114678023G>TCA1020210AMPD1c.1099C>A (p.Arg367Ser)
c.1111C>A (p.Arg371Ser)
c.894C>A (n.894C>A)
n.776C>A
c.1198C>A (p.Arg400Ser)
c.1210C>A (p.Arg404Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114678024C>ACA341749196AMPD1c.1098G>T (p.Gln366His)
c.1110G>T (p.Gln370His)
c.893G>T (n.893G>T)
n.775G>T
c.1197G>T (p.Gln399His)
c.1209G>T (p.Gln403His)
 gnomAD v4
1g.114678024C>GCA341749197AMPD1c.1098G>C (p.Gln366His)
c.1110G>C (p.Gln370His)
c.893G>C (n.893G>C)
n.775G>C
c.1197G>C (p.Gln399His)
c.1209G>C (p.Gln403His)
1g.114678024C>TCA419883131AMPD1c.1098G>A (p.Gln366=)
c.1110G>A (p.Gln370=)
c.893G>A (n.893G>A)
n.775G>A
c.1197G>A (p.Gln399=)
c.1209G>A (p.Gln403=)
 gnomAD v4
1g.114678025T>ACA341749198AMPD1c.1097A>T (p.Gln366Leu)
c.1109A>T (p.Gln370Leu)
c.892A>T (n.892A>T)
n.774A>T
c.1196A>T (p.Gln399Leu)
c.1208A>T (p.Gln403Leu)
1g.114678025T>CCA341749199AMPD1c.1097A>G (p.Gln366Arg)
c.1109A>G (p.Gln370Arg)
c.892A>G (n.892A>G)
n.774A>G
c.1196A>G (p.Gln399Arg)
c.1208A>G (p.Gln403Arg)
1g.114678025T>GCA341749200AMPD1c.1097A>C (p.Gln366Pro)
c.1109A>C (p.Gln370Pro)
c.892A>C (n.892A>C)
n.774A>C
c.1196A>C (p.Gln399Pro)
c.1208A>C (p.Gln403Pro)
1g.114678026G>ACA341749201AMPD1c.1096C>T (p.Gln366Ter)
c.1108C>T (p.Gln370Ter)
c.891C>T (n.891C>T)
n.773C>T
c.1195C>T (p.Gln399Ter)
c.1207C>T (p.Gln403Ter)
1g.114678026G>CCA341749202AMPD1c.1096C>G (p.Gln366Glu)
c.1108C>G (p.Gln370Glu)
c.891C>G (n.891C>G)
n.773C>G
c.1195C>G (p.Gln399Glu)
c.1207C>G (p.Gln403Glu)
1g.114678026G>TCA341749203AMPD1c.1096C>A (p.Gln366Lys)
c.1108C>A (p.Gln370Lys)
c.891C>A (n.891C>A)
n.773C>A
c.1195C>A (p.Gln399Lys)
c.1207C>A (p.Gln403Lys)
1g.114678027G>ACA419883132AMPD1c.1095C>T (p.Phe365=)
c.1107C>T (p.Phe369=)
c.890C>T (n.890C>T)
n.772C>T
c.1194C>T (p.Phe398=)
c.1206C>T (p.Phe402=)
1g.114678027G>CCA341749205AMPD1c.1095C>G (p.Phe365Leu)
c.1107C>G (p.Phe369Leu)
c.890C>G (n.890C>G)
n.772C>G
c.1194C>G (p.Phe398Leu)
c.1206C>G (p.Phe402Leu)
1g.114678027G>TCA341749204AMPD1c.1095C>A (p.Phe365Leu)
c.1107C>A (p.Phe369Leu)
c.890C>A (n.890C>A)
n.772C>A
c.1194C>A (p.Phe398Leu)
c.1206C>A (p.Phe402Leu)
1g.114678028A>CCA341749206AMPD1c.1094T>G (p.Phe365Cys)
c.1106T>G (p.Phe369Cys)
c.889T>G (n.889T>G)
n.771T>G
c.1193T>G (p.Phe398Cys)
c.1205T>G (p.Phe402Cys)
1g.114678028A>GCA341749207AMPD1c.1094T>C (p.Phe365Ser)
c.1106T>C (p.Phe369Ser)
c.889T>C (n.889T>C)
n.771T>C
c.1193T>C (p.Phe398Ser)
c.1205T>C (p.Phe402Ser)
1g.114678028A>TCA341749208AMPD1c.1094T>A (p.Phe365Tyr)
c.1106T>A (p.Phe369Tyr)
c.889T>A (n.889T>A)
n.771T>A
c.1193T>A (p.Phe398Tyr)
c.1205T>A (p.Phe402Tyr)
1g.114678029A>CCA341749209AMPD1c.1093T>G (p.Phe365Val)
c.1105T>G (p.Phe369Val)
c.888T>G (n.888T>G)
n.770T>G
c.1192T>G (p.Phe398Val)
c.1204T>G (p.Phe402Val)
1g.114678029A>GCA341749210AMPD1c.1093T>C (p.Phe365Leu)
c.1105T>C (p.Phe369Leu)
c.888T>C (n.888T>C)
n.770T>C
c.1192T>C (p.Phe398Leu)
c.1204T>C (p.Phe402Leu)
1g.114678029A>TCA341749211AMPD1c.1093T>A (p.Phe365Ile)
c.1105T>A (p.Phe369Ile)
c.888T>A (n.888T>A)
n.770T>A
c.1192T>A (p.Phe398Ile)
c.1204T>A (p.Phe402Ile)
1g.114678030G>ACA419883133AMPD1c.1092C>T (p.Thr364=)
c.1104C>T (p.Thr368=)
c.887C>T (n.887C>T)
n.769C>T
c.1191C>T (p.Thr397=)
c.1203C>T (p.Thr401=)
 gnomAD v4
1g.114678030G>CCA419883134AMPD1c.1092C>G (p.Thr364=)
c.1104C>G (p.Thr368=)
c.887C>G (n.887C>G)
n.769C>G
c.1191C>G (p.Thr397=)
c.1203C>G (p.Thr401=)
1g.114678030G>TCA419883135AMPD1c.1092C>A (p.Thr364=)
c.1104C>A (p.Thr368=)
c.887C>A (n.887C>A)
n.769C>A
c.1191C>A (p.Thr397=)
c.1203C>A (p.Thr401=)
1g.114678031G>ACA341749214AMPD1c.1091C>T (p.Thr364Ile)
c.1103C>T (p.Thr368Ile)
c.886C>T (n.886C>T)
n.768C>T
c.1190C>T (p.Thr397Ile)
c.1202C>T (p.Thr401Ile)
1g.114678031G>CCA341749212AMPD1c.1091C>G (p.Thr364Ser)
c.1103C>G (p.Thr368Ser)
c.886C>G (n.886C>G)
n.768C>G
c.1190C>G (p.Thr397Ser)
c.1202C>G (p.Thr401Ser)
1g.114678031G>TCA341749213AMPD1c.1091C>A (p.Thr364Asn)
c.1103C>A (p.Thr368Asn)
c.886C>A (n.886C>A)
n.768C>A
c.1190C>A (p.Thr397Asn)
c.1202C>A (p.Thr401Asn)
 gnomAD v4
1g.114678032T>ACA341749215AMPD1c.1090A>T (p.Thr364Ser)
c.1102A>T (p.Thr368Ser)
c.885A>T (n.885A>T)
n.767A>T
c.1189A>T (p.Thr397Ser)
c.1201A>T (p.Thr401Ser)
1g.114678032T>CCA341749216AMPD1c.1090A>G (p.Thr364Ala)
c.1102A>G (p.Thr368Ala)
c.885A>G (n.885A>G)
n.767A>G
c.1189A>G (p.Thr397Ala)
c.1201A>G (p.Thr401Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.114678032T>GCA341749217AMPD1c.1090A>C (p.Thr364Pro)
c.1102A>C (p.Thr368Pro)
c.885A>C (n.885A>C)
n.767A>C
c.1189A>C (p.Thr397Pro)
c.1201A>C (p.Thr401Pro)
1g.114678032T=CA1190276631AMPD1c.1090A= (p.Thr364=)
c.1102A= (p.Thr368=)
c.885A= (n.885A=)
n.767A=
c.1189A= (p.Thr397=)
c.1201A= (p.Thr401=)
1g.114678033C>ACA341749218AMPD1c.1089G>T (p.Gln363His)
c.1101G>T (p.Gln367His)
c.884G>T (n.884G>T)
n.766G>T
c.1188G>T (p.Gln396His)
c.1200G>T (p.Gln400His)
1g.114678033C>GCA341749219AMPD1c.1089G>C (p.Gln363His)
c.1101G>C (p.Gln367His)
c.884G>C (n.884G>C)
n.766G>C
c.1188G>C (p.Gln396His)
c.1200G>C (p.Gln400His)
1g.114678033C>TCA419883136AMPD1c.1089G>A (p.Gln363=)
c.1101G>A (p.Gln367=)
c.884G>A (n.884G>A)
n.766G>A
c.1188G>A (p.Gln396=)
c.1200G>A (p.Gln400=)
1g.114678034T>ACA341749220AMPD1c.1088A>T (p.Gln363Leu)
c.1100A>T (p.Gln367Leu)
c.883A>T (n.883A>T)
n.765A>T
c.1187A>T (p.Gln396Leu)
c.1199A>T (p.Gln400Leu)
 gnomAD v4
1g.114678034T>CCA341749222AMPD1c.1088A>G (p.Gln363Arg)
c.1100A>G (p.Gln367Arg)
c.883A>G (n.883A>G)
n.765A>G
c.1187A>G (p.Gln396Arg)
c.1199A>G (p.Gln400Arg)
1g.114678034T>GCA341749221AMPD1c.1088A>C (p.Gln363Pro)
c.1100A>C (p.Gln367Pro)
c.883A>C (n.883A>C)
n.765A>C
c.1187A>C (p.Gln396Pro)
c.1199A>C (p.Gln400Pro)
1g.114678035G>ACA341749223AMPD1c.1087C>T (p.Gln363Ter)
c.1099C>T (p.Gln367Ter)
c.882C>T (n.882C>T)
n.764C>T
c.1186C>T (p.Gln396Ter)
c.1198C>T (p.Gln400Ter)
1g.114678035G>CCA341749224AMPD1c.1087C>G (p.Gln363Glu)
c.1099C>G (p.Gln367Glu)
c.882C>G (n.882C>G)
n.764C>G
c.1186C>G (p.Gln396Glu)
c.1198C>G (p.Gln400Glu)
1g.114678035G>TCA341749225AMPD1c.1087C>A (p.Gln363Lys)
c.1099C>A (p.Gln367Lys)
c.882C>A (n.882C>A)
n.764C>A
c.1186C>A (p.Gln396Lys)
c.1198C>A (p.Gln400Lys)
1g.114678036delCA2647248320AMPD1c.1087del (p.Gln363ArgfsTer16)
c.1099del (p.Gln367ArgfsTer16)
c.882del (n.882del)
n.764del
c.1186del (p.Gln396ArgfsTer16)
c.1198del (p.Gln400ArgfsTer16)
 gnomAD v4
1g.114678036G>ACA419883137AMPD1c.1086C>T (p.Arg362=)
c.1098C>T (p.Arg366=)
c.881C>T (n.881C>T)
n.763C>T
c.1185C>T (p.Arg395=)
c.1197C>T (p.Arg399=)
1g.114678036G>CCA419883138AMPD1c.1086C>G (p.Arg362=)
c.1098C>G (p.Arg366=)
c.881C>G (n.881C>G)
n.763C>G
c.1185C>G (p.Arg395=)
c.1197C>G (p.Arg399=)
1g.114678036G>TCA419883139AMPD1c.1086C>A (p.Arg362=)
c.1098C>A (p.Arg366=)
c.881C>A (n.881C>A)
n.763C>A
c.1185C>A (p.Arg395=)
c.1197C>A (p.Arg399=)
1g.114678037C>ACA341749226AMPD1c.1085G>T (p.Arg362Leu)
c.1097G>T (p.Arg366Leu)
c.880G>T (n.880G>T)
n.762G>T
c.1184G>T (p.Arg395Leu)
c.1196G>T (p.Arg399Leu)
 dbSNP gnomAD v4
1g.114678037C=CA1143863258AMPD1c.1085G= (p.Arg362=)
c.1097G= (p.Arg366=)
c.880G= (n.880G=)
n.762G=
c.1184G= (p.Arg395=)
c.1196G= (p.Arg399=)
1g.114678037C>GCA341749227AMPD1c.1085G>C (p.Arg362Pro)
c.1097G>C (p.Arg366Pro)
c.880G>C (n.880G>C)
n.762G>C
c.1184G>C (p.Arg395Pro)
c.1196G>C (p.Arg399Pro)
 gnomAD v4
1g.114678037C>TCA1020212AMPD1c.1085G>A (p.Arg362His)
c.1097G>A (p.Arg366His)
c.880G>A (n.880G>A)
n.762G>A
c.1184G>A (p.Arg395His)
c.1196G>A (p.Arg399His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114678038G>ACA1020213AMPD1c.1084C>T (p.Arg362Cys)
c.1096C>T (p.Arg366Cys)
c.879C>T (n.879C>T)
n.761C>T
c.1183C>T (p.Arg395Cys)
c.1195C>T (p.Arg399Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114678038G>CCA341749228AMPD1c.1084C>G (p.Arg362Gly)
c.1096C>G (p.Arg366Gly)
c.879C>G (n.879C>G)
n.761C>G
c.1183C>G (p.Arg395Gly)
c.1195C>G (p.Arg399Gly)
1g.114678038G=CA1141938333AMPD1c.1084C= (p.Arg362=)
c.1096C= (p.Arg366=)
c.879C= (n.879C=)
n.761C=
c.1183C= (p.Arg395=)
c.1195C= (p.Arg399=)
1g.114678038G>TCA341749229AMPD1c.1084C>A (p.Arg362Ser)
c.1096C>A (p.Arg366Ser)
c.879C>A (n.879C>A)
n.761C>A
c.1183C>A (p.Arg395Ser)
c.1195C>A (p.Arg399Ser)
 gnomAD v4
1g.114678038_114678039insCACA1190276632AMPD1c.1083_1084insTG (p.Arg362CysfsTer18)
c.1095_1096insTG (p.Arg366CysfsTer18)
c.878_879insTG (n.878_879insTG)
n.760_761insTG
c.1182_1183insTG (p.Arg395CysfsTer18)
c.1194_1195insTG (p.Arg399CysfsTer18)
 dbSNP
1g.114678038_114678039insCATCGTGGCTATACCGAAGGTTTCCTGCGTCGTCATACCCACGACGATTATCAGAACTACGAATACGGTTATTCGGTTTCTGACCGCCAGCAGTTTGTTGGTGAGTTTACCGGTGAGCGCAAGGGGGACCCA913311033AMPD1c.1083_1084insGGTCCCCCTTGCGCTCACCGGTAAACTCACCAACAAACTGCTGGCGGTCAGAAACCGAATAACCGTATTCGTAGTTCTGATAATCGTCGTGGGTATGACGACGCAGGAAACCTTCGGTATAGCCACGATG (p.Arg362GlyfsTer8)
c.1095_1096insGGTCCCCCTTGCGCTCACCGGTAAACTCACCAACAAACTGCTGGCGGTCAGAAACCGAATAACCGTATTCGTAGTTCTGATAATCGTCGTGGGTATGACGACGCAGGAAACCTTCGGTATAGCCACGATG (p.Arg366GlyfsTer8)
c.878_879insGGTCCCCCTTGCGCTCACCGGTAAACTCACCAACAAACTGCTGGCGGTCAGAAACCGAATAACCGTATTCGTAGTTCTGATAATCGTCGTGGGTATGACGACGCAGGAAACCTTCGGTATAGCCACGATG (n.878_879insGGTCCCCCTTGCGCTCACCGGTAAACTCACCAACAAACTGCTGGCGGTCAGAAACCGAATAACCGTATTCGTAGTTCTGATAATCGTCGTGGGTATGACGACGCAGGAAACCTTCGGTATAGCCACGATG)
n.760_761insGGTCCCCCTTGCGCTCACCGGTAAACTCACCAACAAACTGCTGGCGGTCAGAAACCGAATAACCGTATTCGTAGTTCTGATAATCGTCGTGGGTATGACGACGCAGGAAACCTTCGGTATAGCCACGATG
c.1182_1183insGGTCCCCCTTGCGCTCACCGGTAAACTCACCAACAAACTGCTGGCGGTCAGAAACCGAATAACCGTATTCGTAGTTCTGATAATCGTCGTGGGTATGACGACGCAGGAAACCTTCGGTATAGCCACGATG (p.Arg395GlyfsTer8)
c.1194_1195insGGTCCCCCTTGCGCTCACCGGTAAACTCACCAACAAACTGCTGGCGGTCAGAAACCGAATAACCGTATTCGTAGTTCTGATAATCGTCGTGGGTATGACGACGCAGGAAACCTTCGGTATAGCCACGATG (p.Arg399GlyfsTer8)
 gnomAD v2
1g.114678039T>ACA419883140AMPD1c.1083A>T (p.Gly361=)
c.1095A>T (p.Gly365=)
c.878A>T (n.878A>T)
n.760A>T
c.1182A>T (p.Gly394=)
c.1194A>T (p.Gly398=)
1g.114678039T>CCA419883141AMPD1c.1083A>G (p.Gly361=)
c.1095A>G (p.Gly365=)
c.878A>G (n.878A>G)
n.760A>G
c.1182A>G (p.Gly394=)
c.1194A>G (p.Gly398=)
1g.114678039T>GCA419883142AMPD1c.1083A>C (p.Gly361=)
c.1095A>C (p.Gly365=)
c.878A>C (n.878A>C)
n.760A>C
c.1182A>C (p.Gly394=)
c.1194A>C (p.Gly398=)
1g.114678040C>ACA341749230AMPD1c.1082G>T (p.Gly361Val)
c.1094G>T (p.Gly365Val)
c.877G>T (n.877G>T)
n.759G>T
c.1181G>T (p.Gly394Val)
c.1193G>T (p.Gly398Val)
1g.114678040C=CA1190276633AMPD1c.1082G= (p.Gly361=)
c.1094G= (p.Gly365=)
c.877G= (n.877G=)
n.759G=
c.1181G= (p.Gly394=)
c.1193G= (p.Gly398=)
1g.114678040C>GCA341749231AMPD1c.1082G>C (p.Gly361Ala)
c.1094G>C (p.Gly365Ala)
c.877G>C (n.877G>C)
n.759G>C
c.1181G>C (p.Gly394Ala)
c.1193G>C (p.Gly398Ala)
1g.114678040C>TCA341749232AMPD1c.1082G>A (p.Gly361Glu)
c.1094G>A (p.Gly365Glu)
c.877G>A (n.877G>A)
n.759G>A
c.1181G>A (p.Gly394Glu)
c.1193G>A (p.Gly398Glu)
1g.114678042delCA2647248321AMPD1c.1082del
c.1094del
c.877del
n.759del
c.1181del
c.1193del
 gnomAD v4
1g.114678040_114678041insGCGGCTATACCGAAGGTTTCA1190276634AMPD1c.1081_1082insAAACCTTCGGTATAGCCGC (p.Gly361GlufsTer15)
c.1093_1094insAAACCTTCGGTATAGCCGC (p.Gly365GlufsTer15)
c.876_877insAAACCTTCGGTATAGCCGC (n.876_877insAAACCTTCGGTATAGCCGC)
n.758_759insAAACCTTCGGTATAGCCGC
c.1180_1181insAAACCTTCGGTATAGCCGC (p.Gly394GlufsTer15)
c.1192_1193insAAACCTTCGGTATAGCCGC (p.Gly398GlufsTer15)
 dbSNP
1g.114678041C>ACA341749235AMPD1c.1081G>T (p.Gly361Ter)
c.1093G>T (p.Gly365Ter)
c.876G>T (n.876G>T)
n.758G>T
c.1180G>T (p.Gly394Ter)
c.1192G>T (p.Gly398Ter)
1g.114678041C>GCA341749233AMPD1c.1081G>C (p.Gly361Arg)
c.1093G>C (p.Gly365Arg)
c.876G>C (n.876G>C)
n.758G>C
c.1180G>C (p.Gly394Arg)
c.1192G>C (p.Gly398Arg)
 gnomAD v4
1g.114678041C>TCA341749234AMPD1c.1081G>A (p.Gly361Arg)
c.1093G>A (p.Gly365Arg)
c.876G>A (n.876G>A)
n.758G>A
c.1180G>A (p.Gly394Arg)
c.1192G>A (p.Gly398Arg)
 gnomAD v4
1g.114678042C>ACA341749236AMPD1c.1081-1G>T (n.1081-1G>T)
c.1093-1G>T (n.1093-1G>T)
c.876-1G>T (n.876-1G>T)
n.758-1G>T
c.1180-1G>T (n.1180-1G>T)
c.1192-1G>T (n.1192-1G>T)
1g.114678042C>GCA341749237AMPD1c.1081-1G>C (n.1081-1G>C)
c.1093-1G>C (n.1093-1G>C)
c.876-1G>C (n.876-1G>C)
n.758-1G>C
c.1180-1G>C (n.1180-1G>C)
c.1192-1G>C (n.1192-1G>C)
1g.114678042C>TCA341749238AMPD1c.1081-1G>A (n.1081-1G>A)
c.1093-1G>A (n.1093-1G>A)
c.876-1G>A (n.876-1G>A)
n.758-1G>A
c.1180-1G>A (n.1180-1G>A)
c.1192-1G>A (n.1192-1G>A)
1g.114678043T>ACA341749239AMPD1c.1081-2A>T (n.1081-2A>T)
c.1093-2A>T (n.1093-2A>T)
c.876-2A>T (n.876-2A>T)
n.758-2A>T
c.1180-2A>T (n.1180-2A>T)
c.1192-2A>T (n.1192-2A>T)
1g.114678043T>CCA341749240AMPD1c.1081-2A>G (n.1081-2A>G)
c.1093-2A>G (n.1093-2A>G)
c.876-2A>G (n.876-2A>G)
n.758-2A>G
c.1180-2A>G (n.1180-2A>G)
c.1192-2A>G (n.1192-2A>G)
1g.114678043T>GCA341749241AMPD1c.1081-2A>C (n.1081-2A>C)
c.1093-2A>C (n.1093-2A>C)
c.876-2A>C (n.876-2A>C)
n.758-2A>C
c.1180-2A>C (n.1180-2A>C)
c.1192-2A>C (n.1192-2A>C)
 dbSNP gnomAD v2 gnomAD v4
1g.114678043T=CA1190276635AMPD1c.1081-2A= (n.1081-2A=)
c.1093-2A= (n.1093-2A=)
c.876-2A= (n.876-2A=)
n.758-2A=
c.1180-2A= (n.1180-2A=)
c.1192-2A= (n.1192-2A=)

Number of alleles fetched