Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.16985984G>ACA1156048566ATP13A2c.*237C>T (n.*237C>T)
c.*1C>T (n.*1C>T)
n.1826C>T
c.1198C>T (n.1198C>T)
 dbSNP
1g.16985984G=CA1156048567ATP13A2c.*237C= (n.*237C=)
c.*1C= (n.*1C=)
n.1826C=
c.1198C= (n.1198C=)
1g.16985984G>TCA2643667450ATP13A2c.*237C>A (n.*237C>A)
c.*1C>A (n.*1C>A)
n.1826C>A
c.1198C>A (n.1198C>A)
 gnomAD v4
1g.16985985C>ACA636406ATP13A2c.*236G>T (n.*236G>T)
c.3477G>T (p.Ter1159Tyr)
n.1825G>T
c.1197G>T (p.Ter399Tyr)
c.3609G>T (p.Ter1203Tyr)
c.3606G>T (p.Ter1202Tyr)
c.3594G>T (p.Ter1198Tyr)
c.3582G>T (p.Ter1194Tyr)
c.3549G>T (p.Ter1183Tyr)
c.3492G>T (p.Ter1164Tyr)
c.3591G>T (p.Ter1197Tyr)
c.3567G>T (p.Ter1189Tyr)
c.3402G>T (p.Ter1134Tyr)
 dbSNP ExAC gnomAD v4
1g.16985985C=CA1149059388ATP13A2c.*236G= (n.*236G=)
c.3477G= (p.Ter1159=)
n.1825G=
c.1197G= (p.Ter399=)
c.3609G= (p.Ter1203=)
c.3606G= (p.Ter1202=)
c.3594G= (p.Ter1198=)
c.3582G= (p.Ter1194=)
c.3549G= (p.Ter1183=)
c.3492G= (p.Ter1164=)
c.3591G= (p.Ter1197=)
c.3567G= (p.Ter1189=)
c.3402G= (p.Ter1134=)
1g.16985985C>GCA338230271ATP13A2c.*236G>C (n.*236G>C)
c.3477G>C (p.Ter1159Tyr)
n.1825G>C
c.1197G>C (p.Ter399Tyr)
c.3609G>C (p.Ter1203Tyr)
c.3606G>C (p.Ter1202Tyr)
c.3594G>C (p.Ter1198Tyr)
c.3582G>C (p.Ter1194Tyr)
c.3549G>C (p.Ter1183Tyr)
c.3492G>C (p.Ter1164Tyr)
c.3591G>C (p.Ter1197Tyr)
c.3567G>C (p.Ter1189Tyr)
c.3402G>C (p.Ter1134Tyr)
 dbSNP gnomAD v3 gnomAD v4
1g.16985985C>TCA18624201ATP13A2c.*236G>A (n.*236G>A)
c.3477G>A (p.Ter1159=)
n.1825G>A
c.1197G>A (p.Ter399=)
c.3609G>A (p.Ter1203=)
c.3606G>A (p.Ter1202=)
c.3594G>A (p.Ter1198=)
c.3582G>A (p.Ter1194=)
c.3549G>A (p.Ter1183=)
c.3492G>A (p.Ter1164=)
c.3591G>A (p.Ter1197=)
c.3567G>A (p.Ter1189=)
c.3402G>A (p.Ter1134=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16985986T>ACA338230277ATP13A2c.*235A>T (n.*235A>T)
c.3476A>T (p.Ter1159Leu)
n.1824A>T
c.1196A>T (p.Ter399Leu)
c.3608A>T (p.Ter1203Leu)
c.3605A>T (p.Ter1202Leu)
c.3593A>T (p.Ter1198Leu)
c.3581A>T (p.Ter1194Leu)
c.3548A>T (p.Ter1183Leu)
c.3491A>T (p.Ter1164Leu)
c.3590A>T (p.Ter1197Leu)
c.3566A>T (p.Ter1189Leu)
c.3401A>T (p.Ter1134Leu)
1g.16985986T>CCA338230276ATP13A2c.*235A>G (n.*235A>G)
c.3476A>G (p.Ter1159Trp)
n.1824A>G
c.1196A>G (p.Ter399Trp)
c.3608A>G (p.Ter1203Trp)
c.3605A>G (p.Ter1202Trp)
c.3593A>G (p.Ter1198Trp)
c.3581A>G (p.Ter1194Trp)
c.3548A>G (p.Ter1183Trp)
c.3491A>G (p.Ter1164Trp)
c.3590A>G (p.Ter1197Trp)
c.3566A>G (p.Ter1189Trp)
c.3401A>G (p.Ter1134Trp)
 gnomAD v4
1g.16985986T>GCA338230273ATP13A2c.*235A>C (n.*235A>C)
c.3476A>C (p.Ter1159Ser)
n.1824A>C
c.1196A>C (p.Ter399Ser)
c.3608A>C (p.Ter1203Ser)
c.3605A>C (p.Ter1202Ser)
c.3593A>C (p.Ter1198Ser)
c.3581A>C (p.Ter1194Ser)
c.3548A>C (p.Ter1183Ser)
c.3491A>C (p.Ter1164Ser)
c.3590A>C (p.Ter1197Ser)
c.3566A>C (p.Ter1189Ser)
c.3401A>C (p.Ter1134Ser)
1g.16985987A>CCA338230283ATP13A2c.*234T>G (n.*234T>G)
c.3475T>G (p.Ter1159Glu)
n.1823T>G
c.1195T>G (p.Ter399Glu)
c.3607T>G (p.Ter1203Glu)
c.3604T>G (p.Ter1202Glu)
c.3592T>G (p.Ter1198Glu)
c.3580T>G (p.Ter1194Glu)
c.3547T>G (p.Ter1183Glu)
c.3490T>G (p.Ter1164Glu)
c.3589T>G (p.Ter1197Glu)
c.3565T>G (p.Ter1189Glu)
c.3400T>G (p.Ter1134Glu)
1g.16985987A>GCA338230286ATP13A2c.*234T>C (n.*234T>C)
c.3475T>C (p.Ter1159Gln)
n.1823T>C
c.1195T>C (p.Ter399Gln)
c.3607T>C (p.Ter1203Gln)
c.3604T>C (p.Ter1202Gln)
c.3592T>C (p.Ter1198Gln)
c.3580T>C (p.Ter1194Gln)
c.3547T>C (p.Ter1183Gln)
c.3490T>C (p.Ter1164Gln)
c.3589T>C (p.Ter1197Gln)
c.3565T>C (p.Ter1189Gln)
c.3400T>C (p.Ter1134Gln)
1g.16985987A>TCA338230288ATP13A2c.*234T>A (n.*234T>A)
c.3475T>A (p.Ter1159Lys)
n.1823T>A
c.1195T>A (p.Ter399Lys)
c.3607T>A (p.Ter1203Lys)
c.3604T>A (p.Ter1202Lys)
c.3592T>A (p.Ter1198Lys)
c.3580T>A (p.Ter1194Lys)
c.3547T>A (p.Ter1183Lys)
c.3490T>A (p.Ter1164Lys)
c.3589T>A (p.Ter1197Lys)
c.3565T>A (p.Ter1189Lys)
c.3400T>A (p.Ter1134Lys)
1g.16985988C>TCA2643667456ATP13A2c.*233G>A (n.*233G>A)
c.3474G>A (p.Val1158=)
n.1822G>A
c.1194G>A (p.Val398=)
c.3606G>A (p.Val1202=)
c.3603G>A (p.Val1201=)
c.3591G>A (p.Val1197=)
c.3579G>A (p.Val1193=)
c.3546G>A (p.Val1182=)
c.3489G>A (p.Val1163=)
c.3588G>A (p.Val1196=)
c.3564G>A (p.Val1188=)
c.3399G>A (p.Val1133=)
 gnomAD v4
1g.16985989A>CCA338230291ATP13A2c.*232T>G (n.*232T>G)
c.3473T>G (p.Val1158Gly)
n.1821T>G
c.1193T>G (p.Val398Gly)
c.3605T>G (p.Val1202Gly)
c.3602T>G (p.Val1201Gly)
c.3590T>G (p.Val1197Gly)
c.3578T>G (p.Val1193Gly)
c.3545T>G (p.Val1182Gly)
c.3488T>G (p.Val1163Gly)
c.3587T>G (p.Val1196Gly)
c.3563T>G (p.Val1188Gly)
c.3398T>G (p.Val1133Gly)
1g.16985989A>GCA338230293ATP13A2c.*232T>C (n.*232T>C)
c.3473T>C (p.Val1158Ala)
n.1821T>C
c.1193T>C (p.Val398Ala)
c.3605T>C (p.Val1202Ala)
c.3602T>C (p.Val1201Ala)
c.3590T>C (p.Val1197Ala)
c.3578T>C (p.Val1193Ala)
c.3545T>C (p.Val1182Ala)
c.3488T>C (p.Val1163Ala)
c.3587T>C (p.Val1196Ala)
c.3563T>C (p.Val1188Ala)
c.3398T>C (p.Val1133Ala)
1g.16985989A>TCA338230295ATP13A2c.*232T>A (n.*232T>A)
c.3473T>A (p.Val1158Glu)
n.1821T>A
c.1193T>A (p.Val398Glu)
c.3605T>A (p.Val1202Glu)
c.3602T>A (p.Val1201Glu)
c.3590T>A (p.Val1197Glu)
c.3578T>A (p.Val1193Glu)
c.3545T>A (p.Val1182Glu)
c.3488T>A (p.Val1163Glu)
c.3587T>A (p.Val1196Glu)
c.3563T>A (p.Val1188Glu)
c.3398T>A (p.Val1133Glu)
1g.16985990C>ACA338230298ATP13A2c.*231G>T (n.*231G>T)
c.3472G>T (p.Val1158Leu)
n.1820G>T
c.1192G>T (p.Val398Leu)
c.3604G>T (p.Val1202Leu)
c.3601G>T (p.Val1201Leu)
c.3589G>T (p.Val1197Leu)
c.3577G>T (p.Val1193Leu)
c.3544G>T (p.Val1182Leu)
c.3487G>T (p.Val1163Leu)
c.3586G>T (p.Val1196Leu)
c.3562G>T (p.Val1188Leu)
c.3397G>T (p.Val1133Leu)
 gnomAD v4
1g.16985990C=CA1140985773ATP13A2c.*231G= (n.*231G=)
c.3472G= (p.Val1158=)
n.1820G=
c.1192G= (p.Val398=)
c.3604G= (p.Val1202=)
c.3601G= (p.Val1201=)
c.3589G= (p.Val1197=)
c.3577G= (p.Val1193=)
c.3544G= (p.Val1182=)
c.3487G= (p.Val1163=)
c.3586G= (p.Val1196=)
c.3562G= (p.Val1188=)
c.3397G= (p.Val1133=)
1g.16985990C>GCA338230301ATP13A2c.*231G>C (n.*231G>C)
c.3472G>C (p.Val1158Leu)
n.1820G>C
c.1192G>C (p.Val398Leu)
c.3604G>C (p.Val1202Leu)
c.3601G>C (p.Val1201Leu)
c.3589G>C (p.Val1197Leu)
c.3577G>C (p.Val1193Leu)
c.3544G>C (p.Val1182Leu)
c.3487G>C (p.Val1163Leu)
c.3586G>C (p.Val1196Leu)
c.3562G>C (p.Val1188Leu)
c.3397G>C (p.Val1133Leu)
1g.16985990C>TCA636407ATP13A2c.*231G>A (n.*231G>A)
c.3472G>A (p.Val1158Met)
n.1820G>A
c.1192G>A (p.Val398Met)
c.3604G>A (p.Val1202Met)
c.3601G>A (p.Val1201Met)
c.3589G>A (p.Val1197Met)
c.3577G>A (p.Val1193Met)
c.3544G>A (p.Val1182Met)
c.3487G>A (p.Val1163Met)
c.3586G>A (p.Val1196Met)
c.3562G>A (p.Val1188Met)
c.3397G>A (p.Val1133Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16985991T>CCA2643667457ATP13A2c.*230A>G (n.*230A>G)
c.3471A>G (p.Ser1157=)
n.1819A>G
c.1191A>G (p.Ser397=)
c.3603A>G (p.Ser1201=)
c.3600A>G (p.Ser1200=)
c.3588A>G (p.Ser1196=)
c.3576A>G (p.Ser1192=)
c.3543A>G (p.Ser1181=)
c.3486A>G (p.Ser1162=)
c.3585A>G (p.Ser1195=)
c.3561A>G (p.Ser1187=)
c.3396A>G (p.Ser1132=)
 dbSNP gnomAD v4
1g.16985992G>ACA338230306ATP13A2c.*229C>T (n.*229C>T)
c.3470C>T (p.Ser1157Leu)
n.1818C>T
c.1190C>T (p.Ser397Leu)
c.3602C>T (p.Ser1201Leu)
c.3599C>T (p.Ser1200Leu)
c.3587C>T (p.Ser1196Leu)
c.3575C>T (p.Ser1192Leu)
c.3542C>T (p.Ser1181Leu)
c.3485C>T (p.Ser1162Leu)
c.3584C>T (p.Ser1195Leu)
c.3560C>T (p.Ser1187Leu)
c.3395C>T (p.Ser1132Leu)
1g.16985992G>CCA338230309ATP13A2c.*229C>G (n.*229C>G)
c.3470C>G (p.Ser1157Ter)
n.1818C>G
c.1190C>G (p.Ser397Ter)
c.3602C>G (p.Ser1201Ter)
c.3599C>G (p.Ser1200Ter)
c.3587C>G (p.Ser1196Ter)
c.3575C>G (p.Ser1192Ter)
c.3542C>G (p.Ser1181Ter)
c.3485C>G (p.Ser1162Ter)
c.3584C>G (p.Ser1195Ter)
c.3560C>G (p.Ser1187Ter)
c.3395C>G (p.Ser1132Ter)
1g.16985992G>TCA338230311ATP13A2c.*229C>A (n.*229C>A)
c.3470C>A (p.Ser1157Ter)
n.1818C>A
c.1190C>A (p.Ser397Ter)
c.3602C>A (p.Ser1201Ter)
c.3599C>A (p.Ser1200Ter)
c.3587C>A (p.Ser1196Ter)
c.3575C>A (p.Ser1192Ter)
c.3542C>A (p.Ser1181Ter)
c.3485C>A (p.Ser1162Ter)
c.3584C>A (p.Ser1195Ter)
c.3560C>A (p.Ser1187Ter)
c.3395C>A (p.Ser1132Ter)
1g.16985993A>CCA338230323ATP13A2c.*228T>G (n.*228T>G)
c.3469T>G (p.Ser1157Ala)
n.1817T>G
c.1189T>G (p.Ser397Ala)
c.3601T>G (p.Ser1201Ala)
c.3598T>G (p.Ser1200Ala)
c.3586T>G (p.Ser1196Ala)
c.3574T>G (p.Ser1192Ala)
c.3541T>G (p.Ser1181Ala)
c.3484T>G (p.Ser1162Ala)
c.3583T>G (p.Ser1195Ala)
c.3559T>G (p.Ser1187Ala)
c.3394T>G (p.Ser1132Ala)
1g.16985993A>GCA338230322ATP13A2c.*228T>C (n.*228T>C)
c.3469T>C (p.Ser1157Pro)
n.1817T>C
c.1189T>C (p.Ser397Pro)
c.3601T>C (p.Ser1201Pro)
c.3598T>C (p.Ser1200Pro)
c.3586T>C (p.Ser1196Pro)
c.3574T>C (p.Ser1192Pro)
c.3541T>C (p.Ser1181Pro)
c.3484T>C (p.Ser1162Pro)
c.3583T>C (p.Ser1195Pro)
c.3559T>C (p.Ser1187Pro)
c.3394T>C (p.Ser1132Pro)
 gnomAD v4
1g.16985993A>TCA338230316ATP13A2c.*228T>A (n.*228T>A)
c.3469T>A (p.Ser1157Thr)
n.1817T>A
c.1189T>A (p.Ser397Thr)
c.3601T>A (p.Ser1201Thr)
c.3598T>A (p.Ser1200Thr)
c.3586T>A (p.Ser1196Thr)
c.3574T>A (p.Ser1192Thr)
c.3541T>A (p.Ser1181Thr)
c.3484T>A (p.Ser1162Thr)
c.3583T>A (p.Ser1195Thr)
c.3559T>A (p.Ser1187Thr)
c.3394T>A (p.Ser1132Thr)
1g.16985994C>TCA2643667458ATP13A2c.*227G>A (n.*227G>A)
c.3468G>A (p.Leu1156=)
n.1816G>A
c.1188G>A (p.Leu396=)
c.3600G>A (p.Leu1200=)
c.3597G>A (p.Leu1199=)
c.3585G>A (p.Leu1195=)
c.3573G>A (p.Leu1191=)
c.3540G>A (p.Leu1180=)
c.3483G>A (p.Leu1161=)
c.3582G>A (p.Leu1194=)
c.3558G>A (p.Leu1186=)
c.3393G>A (p.Leu1131=)
 gnomAD v4
1g.16985995A>CCA338230331ATP13A2c.*226T>G (n.*226T>G)
c.3467T>G (p.Leu1156Arg)
n.1815T>G
c.1187T>G (p.Leu396Arg)
c.3599T>G (p.Leu1200Arg)
c.3596T>G (p.Leu1199Arg)
c.3584T>G (p.Leu1195Arg)
c.3572T>G (p.Leu1191Arg)
c.3539T>G (p.Leu1180Arg)
c.3482T>G (p.Leu1161Arg)
c.3581T>G (p.Leu1194Arg)
c.3557T>G (p.Leu1186Arg)
c.3392T>G (p.Leu1131Arg)
1g.16985995A>GCA338230327ATP13A2c.*226T>C (n.*226T>C)
c.3467T>C (p.Leu1156Pro)
n.1815T>C
c.1187T>C (p.Leu396Pro)
c.3599T>C (p.Leu1200Pro)
c.3596T>C (p.Leu1199Pro)
c.3584T>C (p.Leu1195Pro)
c.3572T>C (p.Leu1191Pro)
c.3539T>C (p.Leu1180Pro)
c.3482T>C (p.Leu1161Pro)
c.3581T>C (p.Leu1194Pro)
c.3557T>C (p.Leu1186Pro)
c.3392T>C (p.Leu1131Pro)
 gnomAD v4
1g.16985995A>TCA338230330ATP13A2c.*226T>A (n.*226T>A)
c.3467T>A (p.Leu1156Gln)
n.1815T>A
c.1187T>A (p.Leu396Gln)
c.3599T>A (p.Leu1200Gln)
c.3596T>A (p.Leu1199Gln)
c.3584T>A (p.Leu1195Gln)
c.3572T>A (p.Leu1191Gln)
c.3539T>A (p.Leu1180Gln)
c.3482T>A (p.Leu1161Gln)
c.3581T>A (p.Leu1194Gln)
c.3557T>A (p.Leu1186Gln)
c.3392T>A (p.Leu1131Gln)
1g.16985996G>ACA636408ATP13A2c.*225C>T (n.*225C>T)
c.3466C>T (p.Leu1156=)
n.1814C>T
c.1186C>T (p.Leu396=)
c.3598C>T (p.Leu1200=)
c.3595C>T (p.Leu1199=)
c.3583C>T (p.Leu1195=)
c.3571C>T (p.Leu1191=)
c.3538C>T (p.Leu1180=)
c.3481C>T (p.Leu1161=)
c.3580C>T (p.Leu1194=)
c.3556C>T (p.Leu1186=)
c.3391C>T (p.Leu1131=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16985996G>CCA338230335ATP13A2c.*225C>G (n.*225C>G)
c.3466C>G (p.Leu1156Val)
n.1814C>G
c.1186C>G (p.Leu396Val)
c.3598C>G (p.Leu1200Val)
c.3595C>G (p.Leu1199Val)
c.3583C>G (p.Leu1195Val)
c.3571C>G (p.Leu1191Val)
c.3538C>G (p.Leu1180Val)
c.3481C>G (p.Leu1161Val)
c.3580C>G (p.Leu1194Val)
c.3556C>G (p.Leu1186Val)
c.3391C>G (p.Leu1131Val)
1g.16985996G=CA1156048573ATP13A2c.*225C= (n.*225C=)
c.3466C= (p.Leu1156=)
n.1814C=
c.1186C= (p.Leu396=)
c.3598C= (p.Leu1200=)
c.3595C= (p.Leu1199=)
c.3583C= (p.Leu1195=)
c.3571C= (p.Leu1191=)
c.3538C= (p.Leu1180=)
c.3481C= (p.Leu1161=)
c.3580C= (p.Leu1194=)
c.3556C= (p.Leu1186=)
c.3391C= (p.Leu1131=)
1g.16985996G>TCA338230342ATP13A2c.*225C>A (n.*225C>A)
c.3466C>A (p.Leu1156Met)
n.1814C>A
c.1186C>A (p.Leu396Met)
c.3598C>A (p.Leu1200Met)
c.3595C>A (p.Leu1199Met)
c.3583C>A (p.Leu1195Met)
c.3571C>A (p.Leu1191Met)
c.3538C>A (p.Leu1180Met)
c.3481C>A (p.Leu1161Met)
c.3580C>A (p.Leu1194Met)
c.3556C>A (p.Leu1186Met)
c.3391C>A (p.Leu1131Met)
 gnomAD v4
1g.16985997C>ACA2643667462ATP13A2c.*224G>T (n.*224G>T)
c.3465G>T (p.Leu1155=)
n.1813G>T
c.1185G>T (p.Leu395=)
c.3597G>T (p.Leu1199=)
c.3594G>T (p.Leu1198=)
c.3582G>T (p.Leu1194=)
c.3570G>T (p.Leu1190=)
c.3537G>T (p.Leu1179=)
c.3480G>T (p.Leu1160=)
c.3579G>T (p.Leu1193=)
c.3555G>T (p.Leu1185=)
c.3390G>T (p.Leu1130=)
 gnomAD v4
1g.16985997C=CA1156048575ATP13A2c.*224G= (n.*224G=)
c.3465G= (p.Leu1155=)
n.1813G=
c.1185G= (p.Leu395=)
c.3597G= (p.Leu1199=)
c.3594G= (p.Leu1198=)
c.3582G= (p.Leu1194=)
c.3570G= (p.Leu1190=)
c.3537G= (p.Leu1179=)
c.3480G= (p.Leu1160=)
c.3579G= (p.Leu1193=)
c.3555G= (p.Leu1185=)
c.3390G= (p.Leu1130=)
1g.16985997C>TCA1156048579ATP13A2c.*224G>A (n.*224G>A)
c.3465G>A (p.Leu1155=)
n.1813G>A
c.1185G>A (p.Leu395=)
c.3597G>A (p.Leu1199=)
c.3594G>A (p.Leu1198=)
c.3582G>A (p.Leu1194=)
c.3570G>A (p.Leu1190=)
c.3537G>A (p.Leu1179=)
c.3480G>A (p.Leu1160=)
c.3579G>A (p.Leu1193=)
c.3555G>A (p.Leu1185=)
c.3390G>A (p.Leu1130=)
 dbSNP
1g.16985998A>CCA338230344ATP13A2c.*223T>G (n.*223T>G)
c.3464T>G (p.Leu1155Arg)
n.1812T>G
c.1184T>G (p.Leu395Arg)
c.3596T>G (p.Leu1199Arg)
c.3593T>G (p.Leu1198Arg)
c.3581T>G (p.Leu1194Arg)
c.3569T>G (p.Leu1190Arg)
c.3536T>G (p.Leu1179Arg)
c.3479T>G (p.Leu1160Arg)
c.3578T>G (p.Leu1193Arg)
c.3554T>G (p.Leu1185Arg)
c.3389T>G (p.Leu1130Arg)
1g.16985998A>GCA338230345ATP13A2c.*223T>C (n.*223T>C)
c.3464T>C (p.Leu1155Pro)
n.1812T>C
c.1184T>C (p.Leu395Pro)
c.3596T>C (p.Leu1199Pro)
c.3593T>C (p.Leu1198Pro)
c.3581T>C (p.Leu1194Pro)
c.3569T>C (p.Leu1190Pro)
c.3536T>C (p.Leu1179Pro)
c.3479T>C (p.Leu1160Pro)
c.3578T>C (p.Leu1193Pro)
c.3554T>C (p.Leu1185Pro)
c.3389T>C (p.Leu1130Pro)
1g.16985998A>TCA338230347ATP13A2c.*223T>A (n.*223T>A)
c.3464T>A (p.Leu1155Gln)
n.1812T>A
c.1184T>A (p.Leu395Gln)
c.3596T>A (p.Leu1199Gln)
c.3593T>A (p.Leu1198Gln)
c.3581T>A (p.Leu1194Gln)
c.3569T>A (p.Leu1190Gln)
c.3536T>A (p.Leu1179Gln)
c.3479T>A (p.Leu1160Gln)
c.3578T>A (p.Leu1193Gln)
c.3554T>A (p.Leu1185Gln)
c.3389T>A (p.Leu1130Gln)
1g.16985999G>ACA2643667464ATP13A2c.*222C>T (n.*222C>T)
c.3463C>T (p.Leu1155=)
n.1811C>T
c.1183C>T (p.Leu395=)
c.3595C>T (p.Leu1199=)
c.3592C>T (p.Leu1198=)
c.3580C>T (p.Leu1194=)
c.3568C>T (p.Leu1190=)
c.3535C>T (p.Leu1179=)
c.3478C>T (p.Leu1160=)
c.3577C>T (p.Leu1193=)
c.3553C>T (p.Leu1185=)
c.3388C>T (p.Leu1130=)
 gnomAD v4
1g.16985999G>CCA338230349ATP13A2c.*222C>G (n.*222C>G)
c.3463C>G (p.Leu1155Val)
n.1811C>G
c.1183C>G (p.Leu395Val)
c.3595C>G (p.Leu1199Val)
c.3592C>G (p.Leu1198Val)
c.3580C>G (p.Leu1194Val)
c.3568C>G (p.Leu1190Val)
c.3535C>G (p.Leu1179Val)
c.3478C>G (p.Leu1160Val)
c.3577C>G (p.Leu1193Val)
c.3553C>G (p.Leu1185Val)
c.3388C>G (p.Leu1130Val)
1g.16985999G>TCA338230352ATP13A2c.*222C>A (n.*222C>A)
c.3463C>A (p.Leu1155Met)
n.1811C>A
c.1183C>A (p.Leu395Met)
c.3595C>A (p.Leu1199Met)
c.3592C>A (p.Leu1198Met)
c.3580C>A (p.Leu1194Met)
c.3568C>A (p.Leu1190Met)
c.3535C>A (p.Leu1179Met)
c.3478C>A (p.Leu1160Met)
c.3577C>A (p.Leu1193Met)
c.3553C>A (p.Leu1185Met)
c.3388C>A (p.Leu1130Met)
1g.16986000C>TCA2643667467ATP13A2c.*221G>A (n.*221G>A)
c.3462G>A (p.Val1154=)
n.1810G>A
c.1182G>A (p.Val394=)
c.3594G>A (p.Val1198=)
c.3591G>A (p.Val1197=)
c.3579G>A (p.Val1193=)
c.3567G>A (p.Val1189=)
c.3534G>A (p.Val1178=)
c.3477G>A (p.Val1159=)
c.3576G>A (p.Val1192=)
c.3552G>A (p.Val1184=)
c.3387G>A (p.Val1129=)
 gnomAD v4
1g.16986001A=CA1156048585ATP13A2c.*220T= (n.*220T=)
c.3461T= (p.Val1154=)
n.1809T=
c.1181T= (p.Val394=)
c.3593T= (p.Val1198=)
c.3590T= (p.Val1197=)
c.3578T= (p.Val1193=)
c.3566T= (p.Val1189=)
c.3533T= (p.Val1178=)
c.3476T= (p.Val1159=)
c.3575T= (p.Val1192=)
c.3551T= (p.Val1184=)
c.3386T= (p.Val1129=)
1g.16986001A>CCA338230354ATP13A2c.*220T>G (n.*220T>G)
c.3461T>G (p.Val1154Gly)
n.1809T>G
c.1181T>G (p.Val394Gly)
c.3593T>G (p.Val1198Gly)
c.3590T>G (p.Val1197Gly)
c.3578T>G (p.Val1193Gly)
c.3566T>G (p.Val1189Gly)
c.3533T>G (p.Val1178Gly)
c.3476T>G (p.Val1159Gly)
c.3575T>G (p.Val1192Gly)
c.3551T>G (p.Val1184Gly)
c.3386T>G (p.Val1129Gly)
1g.16986001A>GCA338230356ATP13A2c.*220T>C (n.*220T>C)
c.3461T>C (p.Val1154Ala)
n.1809T>C
c.1181T>C (p.Val394Ala)
c.3593T>C (p.Val1198Ala)
c.3590T>C (p.Val1197Ala)
c.3578T>C (p.Val1193Ala)
c.3566T>C (p.Val1189Ala)
c.3533T>C (p.Val1178Ala)
c.3476T>C (p.Val1159Ala)
c.3575T>C (p.Val1192Ala)
c.3551T>C (p.Val1184Ala)
c.3386T>C (p.Val1129Ala)
 dbSNP gnomAD v4
1g.16986001A>TCA338230358ATP13A2c.*220T>A (n.*220T>A)
c.3461T>A (p.Val1154Glu)
n.1809T>A
c.1181T>A (p.Val394Glu)
c.3593T>A (p.Val1198Glu)
c.3590T>A (p.Val1197Glu)
c.3578T>A (p.Val1193Glu)
c.3566T>A (p.Val1189Glu)
c.3533T>A (p.Val1178Glu)
c.3476T>A (p.Val1159Glu)
c.3575T>A (p.Val1192Glu)
c.3551T>A (p.Val1184Glu)
c.3386T>A (p.Val1129Glu)
1g.16986002C>ACA338230371ATP13A2c.*219G>T (n.*219G>T)
c.3460G>T (p.Val1154Leu)
n.1808G>T
c.1180G>T (p.Val394Leu)
c.3592G>T (p.Val1198Leu)
c.3589G>T (p.Val1197Leu)
c.3577G>T (p.Val1193Leu)
c.3565G>T (p.Val1189Leu)
c.3532G>T (p.Val1178Leu)
c.3475G>T (p.Val1159Leu)
c.3574G>T (p.Val1192Leu)
c.3550G>T (p.Val1184Leu)
c.3385G>T (p.Val1129Leu)
1g.16986002C>GCA338230361ATP13A2c.*219G>C (n.*219G>C)
c.3460G>C (p.Val1154Leu)
n.1808G>C
c.1180G>C (p.Val394Leu)
c.3592G>C (p.Val1198Leu)
c.3589G>C (p.Val1197Leu)
c.3577G>C (p.Val1193Leu)
c.3565G>C (p.Val1189Leu)
c.3532G>C (p.Val1178Leu)
c.3475G>C (p.Val1159Leu)
c.3574G>C (p.Val1192Leu)
c.3550G>C (p.Val1184Leu)
c.3385G>C (p.Val1129Leu)
 gnomAD v4
1g.16986002C>TCA338230369ATP13A2c.*219G>A (n.*219G>A)
c.3460G>A (p.Val1154Met)
n.1808G>A
c.1180G>A (p.Val394Met)
c.3592G>A (p.Val1198Met)
c.3589G>A (p.Val1197Met)
c.3577G>A (p.Val1193Met)
c.3565G>A (p.Val1189Met)
c.3532G>A (p.Val1178Met)
c.3475G>A (p.Val1159Met)
c.3574G>A (p.Val1192Met)
c.3550G>A (p.Val1184Met)
c.3385G>A (p.Val1129Met)
 gnomAD v4
1g.16986004G>ACA338230373ATP13A2c.*217C>T (n.*217C>T)
c.3458C>T (p.Ser1153Leu)
n.1806C>T
c.1178C>T (p.Ser393Leu)
c.3590C>T (p.Ser1197Leu)
c.3587C>T (p.Ser1196Leu)
c.3575C>T (p.Ser1192Leu)
c.3563C>T (p.Ser1188Leu)
c.3530C>T (p.Ser1177Leu)
c.3473C>T (p.Ser1158Leu)
c.3572C>T (p.Ser1191Leu)
c.3548C>T (p.Ser1183Leu)
c.3383C>T (p.Ser1128Leu)
 gnomAD v4
1g.16986004G>CCA338230375ATP13A2c.*217C>G (n.*217C>G)
c.3458C>G (p.Ser1153Ter)
n.1806C>G
c.1178C>G (p.Ser393Ter)
c.3590C>G (p.Ser1197Ter)
c.3587C>G (p.Ser1196Ter)
c.3575C>G (p.Ser1192Ter)
c.3563C>G (p.Ser1188Ter)
c.3530C>G (p.Ser1177Ter)
c.3473C>G (p.Ser1158Ter)
c.3572C>G (p.Ser1191Ter)
c.3548C>G (p.Ser1183Ter)
c.3383C>G (p.Ser1128Ter)
1g.16986004G>TCA338230377ATP13A2c.*217C>A (n.*217C>A)
c.3458C>A (p.Ser1153Ter)
n.1806C>A
c.1178C>A (p.Ser393Ter)
c.3590C>A (p.Ser1197Ter)
c.3587C>A (p.Ser1196Ter)
c.3575C>A (p.Ser1192Ter)
c.3563C>A (p.Ser1188Ter)
c.3530C>A (p.Ser1177Ter)
c.3473C>A (p.Ser1158Ter)
c.3572C>A (p.Ser1191Ter)
c.3548C>A (p.Ser1183Ter)
c.3383C>A (p.Ser1128Ter)
1g.16986005A>CCA338230384ATP13A2c.*216T>G (n.*216T>G)
c.3457T>G (p.Ser1153Ala)
n.1805T>G
c.1177T>G (p.Ser393Ala)
c.3589T>G (p.Ser1197Ala)
c.3586T>G (p.Ser1196Ala)
c.3574T>G (p.Ser1192Ala)
c.3562T>G (p.Ser1188Ala)
c.3529T>G (p.Ser1177Ala)
c.3472T>G (p.Ser1158Ala)
c.3571T>G (p.Ser1191Ala)
c.3547T>G (p.Ser1183Ala)
c.3382T>G (p.Ser1128Ala)
1g.16986005A>GCA338230387ATP13A2c.*216T>C (n.*216T>C)
c.3457T>C (p.Ser1153Pro)
n.1805T>C
c.1177T>C (p.Ser393Pro)
c.3589T>C (p.Ser1197Pro)
c.3586T>C (p.Ser1196Pro)
c.3574T>C (p.Ser1192Pro)
c.3562T>C (p.Ser1188Pro)
c.3529T>C (p.Ser1177Pro)
c.3472T>C (p.Ser1158Pro)
c.3571T>C (p.Ser1191Pro)
c.3547T>C (p.Ser1183Pro)
c.3382T>C (p.Ser1128Pro)
 gnomAD v4
1g.16986005A>TCA338230390ATP13A2c.*216T>A (n.*216T>A)
c.3457T>A (p.Ser1153Thr)
n.1805T>A
c.1177T>A (p.Ser393Thr)
c.3589T>A (p.Ser1197Thr)
c.3586T>A (p.Ser1196Thr)
c.3574T>A (p.Ser1192Thr)
c.3562T>A (p.Ser1188Thr)
c.3529T>A (p.Ser1177Thr)
c.3472T>A (p.Ser1158Thr)
c.3571T>A (p.Ser1191Thr)
c.3547T>A (p.Ser1183Thr)
c.3382T>A (p.Ser1128Thr)
1g.16986006G>ACA2643667479ATP13A2c.*215C>T (n.*215C>T)
c.3456C>T (p.Pro1152=)
n.1804C>T
c.1176C>T (p.Pro392=)
c.3588C>T (p.Pro1196=)
c.3585C>T (p.Pro1195=)
c.3573C>T (p.Pro1191=)
c.3561C>T (p.Pro1187=)
c.3528C>T (p.Pro1176=)
c.3471C>T (p.Pro1157=)
c.3570C>T (p.Pro1190=)
c.3546C>T (p.Pro1182=)
c.3381C>T (p.Pro1127=)
 gnomAD v4
1g.16986006G>TCA2643667480ATP13A2c.*215C>A (n.*215C>A)
c.3456C>A (p.Pro1152=)
n.1804C>A
c.1176C>A (p.Pro392=)
c.3588C>A (p.Pro1196=)
c.3585C>A (p.Pro1195=)
c.3573C>A (p.Pro1191=)
c.3561C>A (p.Pro1187=)
c.3528C>A (p.Pro1176=)
c.3471C>A (p.Pro1157=)
c.3570C>A (p.Pro1190=)
c.3546C>A (p.Pro1182=)
c.3381C>A (p.Pro1127=)
 gnomAD v4
1g.16986009delCA2643667477ATP13A2c.*215del (n.*215del)
c.3456del (p.Ser1153GlnfsTer9)
n.1804del
c.1176del (p.Ser393GlnfsTer?)
c.3588del (p.Ser1197GlnfsTer9)
c.3585del (p.Ser1196GlnfsTer9)
c.3573del (p.Ser1192GlnfsTer9)
c.3561del (p.Ser1188GlnfsTer9)
c.3528del (p.Ser1177GlnfsTer9)
c.3471del (p.Ser1158GlnfsTer9)
c.3570del (p.Ser1191GlnfsTer9)
c.3546del (p.Ser1183GlnfsTer9)
c.3381del (p.Ser1128GlnfsTer9)
 gnomAD v4
1g.16986007G>ACA338230393ATP13A2c.*214C>T (n.*214C>T)
c.3455C>T (p.Pro1152Leu)
n.1803C>T
c.1175C>T (p.Pro392Leu)
c.3587C>T (p.Pro1196Leu)
c.3584C>T (p.Pro1195Leu)
c.3572C>T (p.Pro1191Leu)
c.3560C>T (p.Pro1187Leu)
c.3527C>T (p.Pro1176Leu)
c.3470C>T (p.Pro1157Leu)
c.3569C>T (p.Pro1190Leu)
c.3545C>T (p.Pro1182Leu)
c.3380C>T (p.Pro1127Leu)
 gnomAD v4
1g.16986007G>CCA338230395ATP13A2c.*214C>G (n.*214C>G)
c.3455C>G (p.Pro1152Arg)
n.1803C>G
c.1175C>G (p.Pro392Arg)
c.3587C>G (p.Pro1196Arg)
c.3584C>G (p.Pro1195Arg)
c.3572C>G (p.Pro1191Arg)
c.3560C>G (p.Pro1187Arg)
c.3527C>G (p.Pro1176Arg)
c.3470C>G (p.Pro1157Arg)
c.3569C>G (p.Pro1190Arg)
c.3545C>G (p.Pro1182Arg)
c.3380C>G (p.Pro1127Arg)
1g.16986007G>TCA338230397ATP13A2c.*214C>A (n.*214C>A)
c.3455C>A (p.Pro1152His)
n.1803C>A
c.1175C>A (p.Pro392His)
c.3587C>A (p.Pro1196His)
c.3584C>A (p.Pro1195His)
c.3572C>A (p.Pro1191His)
c.3560C>A (p.Pro1187His)
c.3527C>A (p.Pro1176His)
c.3470C>A (p.Pro1157His)
c.3569C>A (p.Pro1190His)
c.3545C>A (p.Pro1182His)
c.3380C>A (p.Pro1127His)
 gnomAD v4
1g.16986008G>ACA338230400ATP13A2c.*213C>T (n.*213C>T)
c.3454C>T (p.Pro1152Ser)
n.1802C>T
c.1174C>T (p.Pro392Ser)
c.3586C>T (p.Pro1196Ser)
c.3583C>T (p.Pro1195Ser)
c.3571C>T (p.Pro1191Ser)
c.3559C>T (p.Pro1187Ser)
c.3526C>T (p.Pro1176Ser)
c.3469C>T (p.Pro1157Ser)
c.3568C>T (p.Pro1190Ser)
c.3544C>T (p.Pro1182Ser)
c.3379C>T (p.Pro1127Ser)
 gnomAD v4
1g.16986008G>CCA338230403ATP13A2c.*213C>G (n.*213C>G)
c.3454C>G (p.Pro1152Ala)
n.1802C>G
c.1174C>G (p.Pro392Ala)
c.3586C>G (p.Pro1196Ala)
c.3583C>G (p.Pro1195Ala)
c.3571C>G (p.Pro1191Ala)
c.3559C>G (p.Pro1187Ala)
c.3526C>G (p.Pro1176Ala)
c.3469C>G (p.Pro1157Ala)
c.3568C>G (p.Pro1190Ala)
c.3544C>G (p.Pro1182Ala)
c.3379C>G (p.Pro1127Ala)
1g.16986008G>TCA338230406ATP13A2c.*213C>A (n.*213C>A)
c.3454C>A (p.Pro1152Thr)
n.1802C>A
c.1174C>A (p.Pro392Thr)
c.3586C>A (p.Pro1196Thr)
c.3583C>A (p.Pro1195Thr)
c.3571C>A (p.Pro1191Thr)
c.3559C>A (p.Pro1187Thr)
c.3526C>A (p.Pro1176Thr)
c.3469C>A (p.Pro1157Thr)
c.3568C>A (p.Pro1190Thr)
c.3544C>A (p.Pro1182Thr)
c.3379C>A (p.Pro1127Thr)
 gnomAD v4
1g.16986009G>ACA521027686ATP13A2c.*212C>T (n.*212C>T)
c.3453C>T (p.Leu1151=)
n.1801C>T
c.1173C>T (p.Leu391=)
c.3585C>T (p.Leu1195=)
c.3582C>T (p.Leu1194=)
c.3570C>T (p.Leu1190=)
c.3558C>T (p.Leu1186=)
c.3525C>T (p.Leu1175=)
c.3468C>T (p.Leu1156=)
c.3567C>T (p.Leu1189=)
c.3543C>T (p.Leu1181=)
c.3378C>T (p.Leu1126=)
 dbSNP gnomAD v2 gnomAD v4
1g.16986009G>CCA2643667491ATP13A2c.*212C>G (n.*212C>G)
c.3453C>G (p.Leu1151=)
n.1801C>G
c.1173C>G (p.Leu391=)
c.3585C>G (p.Leu1195=)
c.3582C>G (p.Leu1194=)
c.3570C>G (p.Leu1190=)
c.3558C>G (p.Leu1186=)
c.3525C>G (p.Leu1175=)
c.3468C>G (p.Leu1156=)
c.3567C>G (p.Leu1189=)
c.3543C>G (p.Leu1181=)
c.3378C>G (p.Leu1126=)
 gnomAD v4
1g.16986009G=CA1156048590ATP13A2c.*212C= (n.*212C=)
c.3453C= (p.Leu1151=)
n.1801C=
c.1173C= (p.Leu391=)
c.3585C= (p.Leu1195=)
c.3582C= (p.Leu1194=)
c.3570C= (p.Leu1190=)
c.3558C= (p.Leu1186=)
c.3525C= (p.Leu1175=)
c.3468C= (p.Leu1156=)
c.3567C= (p.Leu1189=)
c.3543C= (p.Leu1181=)
c.3378C= (p.Leu1126=)
1g.16986009G>TCA2643667493ATP13A2c.*212C>A (n.*212C>A)
c.3453C>A (p.Leu1151=)
n.1801C>A
c.1173C>A (p.Leu391=)
c.3585C>A (p.Leu1195=)
c.3582C>A (p.Leu1194=)
c.3570C>A (p.Leu1190=)
c.3558C>A (p.Leu1186=)
c.3525C>A (p.Leu1175=)
c.3468C>A (p.Leu1156=)
c.3567C>A (p.Leu1189=)
c.3543C>A (p.Leu1181=)
c.3378C>A (p.Leu1126=)
 gnomAD v4
1g.16986010A=CA1156048596ATP13A2c.*211T= (n.*211T=)
c.3452T= (p.Leu1151=)
n.1800T=
c.1172T= (p.Leu391=)
c.3584T= (p.Leu1195=)
c.3581T= (p.Leu1194=)
c.3569T= (p.Leu1190=)
c.3557T= (p.Leu1186=)
c.3524T= (p.Leu1175=)
c.3467T= (p.Leu1156=)
c.3566T= (p.Leu1189=)
c.3542T= (p.Leu1181=)
c.3377T= (p.Leu1126=)
1g.16986010A>CCA338230410ATP13A2c.*211T>G (n.*211T>G)
c.3452T>G (p.Leu1151Arg)
n.1800T>G
c.1172T>G (p.Leu391Arg)
c.3584T>G (p.Leu1195Arg)
c.3581T>G (p.Leu1194Arg)
c.3569T>G (p.Leu1190Arg)
c.3557T>G (p.Leu1186Arg)
c.3524T>G (p.Leu1175Arg)
c.3467T>G (p.Leu1156Arg)
c.3566T>G (p.Leu1189Arg)
c.3542T>G (p.Leu1181Arg)
c.3377T>G (p.Leu1126Arg)
1g.16986010A>GCA338230414ATP13A2c.*211T>C (n.*211T>C)
c.3452T>C (p.Leu1151Pro)
n.1800T>C
c.1172T>C (p.Leu391Pro)
c.3584T>C (p.Leu1195Pro)
c.3581T>C (p.Leu1194Pro)
c.3569T>C (p.Leu1190Pro)
c.3557T>C (p.Leu1186Pro)
c.3524T>C (p.Leu1175Pro)
c.3467T>C (p.Leu1156Pro)
c.3566T>C (p.Leu1189Pro)
c.3542T>C (p.Leu1181Pro)
c.3377T>C (p.Leu1126Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.16986010A>TCA338230408ATP13A2c.*211T>A (n.*211T>A)
c.3452T>A (p.Leu1151His)
n.1800T>A
c.1172T>A (p.Leu391His)
c.3584T>A (p.Leu1195His)
c.3581T>A (p.Leu1194His)
c.3569T>A (p.Leu1190His)
c.3557T>A (p.Leu1186His)
c.3524T>A (p.Leu1175His)
c.3467T>A (p.Leu1156His)
c.3566T>A (p.Leu1189His)
c.3542T>A (p.Leu1181His)
c.3377T>A (p.Leu1126His)
1g.16986011G>ACA18624214ATP13A2c.*210C>T (n.*210C>T)
c.3451C>T (p.Leu1151Phe)
n.1799C>T
c.1171C>T (p.Leu391Phe)
c.3583C>T (p.Leu1195Phe)
c.3580C>T (p.Leu1194Phe)
c.3568C>T (p.Leu1190Phe)
c.3556C>T (p.Leu1186Phe)
c.3523C>T (p.Leu1175Phe)
c.3466C>T (p.Leu1156Phe)
c.3565C>T (p.Leu1189Phe)
c.3541C>T (p.Leu1181Phe)
c.3376C>T (p.Leu1126Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.16986011G>CCA338230417ATP13A2c.*210C>G (n.*210C>G)
c.3451C>G (p.Leu1151Val)
n.1799C>G
c.1171C>G (p.Leu391Val)
c.3583C>G (p.Leu1195Val)
c.3580C>G (p.Leu1194Val)
c.3568C>G (p.Leu1190Val)
c.3556C>G (p.Leu1186Val)
c.3523C>G (p.Leu1175Val)
c.3466C>G (p.Leu1156Val)
c.3565C>G (p.Leu1189Val)
c.3541C>G (p.Leu1181Val)
c.3376C>G (p.Leu1126Val)
1g.16986011G=CA1146124920ATP13A2c.*210C= (n.*210C=)
c.3451C= (p.Leu1151=)
n.1799C=
c.1171C= (p.Leu391=)
c.3583C= (p.Leu1195=)
c.3580C= (p.Leu1194=)
c.3568C= (p.Leu1190=)
c.3556C= (p.Leu1186=)
c.3523C= (p.Leu1175=)
c.3466C= (p.Leu1156=)
c.3565C= (p.Leu1189=)
c.3541C= (p.Leu1181=)
c.3376C= (p.Leu1126=)
1g.16986011G>TCA338230415ATP13A2c.*210C>A (n.*210C>A)
c.3451C>A (p.Leu1151Ile)
n.1799C>A
c.1171C>A (p.Leu391Ile)
c.3583C>A (p.Leu1195Ile)
c.3580C>A (p.Leu1194Ile)
c.3568C>A (p.Leu1190Ile)
c.3556C>A (p.Leu1186Ile)
c.3523C>A (p.Leu1175Ile)
c.3466C>A (p.Leu1156Ile)
c.3565C>A (p.Leu1189Ile)
c.3541C>A (p.Leu1181Ile)
c.3376C>A (p.Leu1126Ile)
 gnomAD v4
1g.16986012C>ACA338230420ATP13A2c.*209G>T (n.*209G>T)
c.3450G>T (p.Gln1150His)
n.1798G>T
c.1170G>T (p.Gln390His)
c.3582G>T (p.Gln1194His)
c.3579G>T (p.Gln1193His)
c.3567G>T (p.Gln1189His)
c.3555G>T (p.Gln1185His)
c.3522G>T (p.Gln1174His)
c.3465G>T (p.Gln1155His)
c.3564G>T (p.Gln1188His)
c.3540G>T (p.Gln1180His)
c.3375G>T (p.Gln1125His)
 gnomAD v4
1g.16986012C>GCA338230421ATP13A2c.*209G>C (n.*209G>C)
c.3450G>C (p.Gln1150His)
n.1798G>C
c.1170G>C (p.Gln390His)
c.3582G>C (p.Gln1194His)
c.3579G>C (p.Gln1193His)
c.3567G>C (p.Gln1189His)
c.3555G>C (p.Gln1185His)
c.3522G>C (p.Gln1174His)
c.3465G>C (p.Gln1155His)
c.3564G>C (p.Gln1188His)
c.3540G>C (p.Gln1180His)
c.3375G>C (p.Gln1125His)
 gnomAD v4
1g.16986012C>TCA2643667505ATP13A2c.*209G>A (n.*209G>A)
c.3450G>A (p.Gln1150=)
n.1798G>A
c.1170G>A (p.Gln390=)
c.3582G>A (p.Gln1194=)
c.3579G>A (p.Gln1193=)
c.3567G>A (p.Gln1189=)
c.3555G>A (p.Gln1185=)
c.3522G>A (p.Gln1174=)
c.3465G>A (p.Gln1155=)
c.3564G>A (p.Gln1188=)
c.3540G>A (p.Gln1180=)
c.3375G>A (p.Gln1125=)
 gnomAD v4
1g.16986013T>ACA338230423ATP13A2c.*208A>T (n.*208A>T)
c.3449A>T (p.Gln1150Leu)
n.1797A>T
c.1169A>T (p.Gln390Leu)
c.3581A>T (p.Gln1194Leu)
c.3578A>T (p.Gln1193Leu)
c.3566A>T (p.Gln1189Leu)
c.3554A>T (p.Gln1185Leu)
c.3521A>T (p.Gln1174Leu)
c.3464A>T (p.Gln1155Leu)
c.3563A>T (p.Gln1188Leu)
c.3539A>T (p.Gln1180Leu)
c.3374A>T (p.Gln1125Leu)
1g.16986013T>CCA338230424ATP13A2c.*208A>G (n.*208A>G)
c.3449A>G (p.Gln1150Arg)
n.1797A>G
c.1169A>G (p.Gln390Arg)
c.3581A>G (p.Gln1194Arg)
c.3578A>G (p.Gln1193Arg)
c.3566A>G (p.Gln1189Arg)
c.3554A>G (p.Gln1185Arg)
c.3521A>G (p.Gln1174Arg)
c.3464A>G (p.Gln1155Arg)
c.3563A>G (p.Gln1188Arg)
c.3539A>G (p.Gln1180Arg)
c.3374A>G (p.Gln1125Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.16986013T>GCA338230425ATP13A2c.*208A>C (n.*208A>C)
c.3449A>C (p.Gln1150Pro)
n.1797A>C
c.1169A>C (p.Gln390Pro)
c.3581A>C (p.Gln1194Pro)
c.3578A>C (p.Gln1193Pro)
c.3566A>C (p.Gln1189Pro)
c.3554A>C (p.Gln1185Pro)
c.3521A>C (p.Gln1174Pro)
c.3464A>C (p.Gln1155Pro)
c.3563A>C (p.Gln1188Pro)
c.3539A>C (p.Gln1180Pro)
c.3374A>C (p.Gln1125Pro)
1g.16986013T=CA1156048603ATP13A2c.*208A= (n.*208A=)
c.3449A= (p.Gln1150=)
n.1797A=
c.1169A= (p.Gln390=)
c.3581A= (p.Gln1194=)
c.3578A= (p.Gln1193=)
c.3566A= (p.Gln1189=)
c.3554A= (p.Gln1185=)
c.3521A= (p.Gln1174=)
c.3464A= (p.Gln1155=)
c.3563A= (p.Gln1188=)
c.3539A= (p.Gln1180=)
c.3374A= (p.Gln1125=)
1g.16986013_16986014delinsTGCA1156048604ATP13A2c.*207_*208delinsCA (n.*207_*208delinsCA)
c.3448_3449delinsCA (p.Gln1150=)
n.1796_1797delinsCA
c.1168_1169delinsCA (p.Gln390=)
c.3580_3581delinsCA (p.Gln1194=)
c.3577_3578delinsCA (p.Gln1193=)
c.3565_3566delinsCA (p.Gln1189=)
c.3553_3554delinsCA (p.Gln1185=)
c.3520_3521delinsCA (p.Gln1174=)
c.3463_3464delinsCA (p.Gln1155=)
c.3562_3563delinsCA (p.Gln1188=)
c.3538_3539delinsCA (p.Gln1180=)
c.3373_3374delinsCA (p.Gln1125=)
1g.16986014G>ACA338230427ATP13A2c.*207C>T (n.*207C>T)
c.3448C>T (p.Gln1150Ter)
n.1796C>T
c.1168C>T (p.Gln390Ter)
c.3580C>T (p.Gln1194Ter)
c.3577C>T (p.Gln1193Ter)
c.3565C>T (p.Gln1189Ter)
c.3553C>T (p.Gln1185Ter)
c.3520C>T (p.Gln1174Ter)
c.3463C>T (p.Gln1155Ter)
c.3562C>T (p.Gln1188Ter)
c.3538C>T (p.Gln1180Ter)
c.3373C>T (p.Gln1125Ter)
 ClinVar
1g.16986014G>CCA338230428ATP13A2c.*207C>G (n.*207C>G)
c.3448C>G (p.Gln1150Glu)
n.1796C>G
c.1168C>G (p.Gln390Glu)
c.3580C>G (p.Gln1194Glu)
c.3577C>G (p.Gln1193Glu)
c.3565C>G (p.Gln1189Glu)
c.3553C>G (p.Gln1185Glu)
c.3520C>G (p.Gln1174Glu)
c.3463C>G (p.Gln1155Glu)
c.3562C>G (p.Gln1188Glu)
c.3538C>G (p.Gln1180Glu)
c.3373C>G (p.Gln1125Glu)
1g.16986014G>TCA338230430ATP13A2c.*207C>A (n.*207C>A)
c.3448C>A (p.Gln1150Lys)
n.1796C>A
c.1168C>A (p.Gln390Lys)
c.3580C>A (p.Gln1194Lys)
c.3577C>A (p.Gln1193Lys)
c.3565C>A (p.Gln1189Lys)
c.3553C>A (p.Gln1185Lys)
c.3520C>A (p.Gln1174Lys)
c.3463C>A (p.Gln1155Lys)
c.3562C>A (p.Gln1188Lys)
c.3538C>A (p.Gln1180Lys)
c.3373C>A (p.Gln1125Lys)
 gnomAD v4
1g.16986018dupCA2643667519ATP13A2c.*207dup (n.*207dup)
c.3448dup (p.Gln1150ProfsTer?)
n.1796dup
c.1168dup (p.Gln390ProfsTer?)
c.3580dup (p.Gln1194ProfsTer?)
c.3577dup (p.Gln1193ProfsTer?)
c.3565dup (p.Gln1189ProfsTer?)
c.3553dup (p.Gln1185ProfsTer?)
c.3520dup (p.Gln1174ProfsTer?)
c.3463dup (p.Gln1155ProfsTer?)
c.3562dup (p.Gln1188ProfsTer?)
c.3538dup (p.Gln1180ProfsTer?)
c.3373dup (p.Gln1125ProfsTer?)
 gnomAD v4
1g.16986018delCA916118985ATP13A2c.*207del (n.*207del)
c.3448del (p.Gln1150SerfsTer12)
n.1796del
c.1168del (p.Gln390SerfsTer?)
c.3580del (p.Gln1194SerfsTer12)
c.3577del (p.Gln1193SerfsTer12)
c.3565del (p.Gln1189SerfsTer12)
c.3553del (p.Gln1185SerfsTer12)
c.3520del (p.Gln1174SerfsTer12)
c.3463del (p.Gln1155SerfsTer12)
c.3562del (p.Gln1188SerfsTer12)
c.3538del (p.Gln1180SerfsTer12)
c.3373del (p.Gln1125SerfsTer12)
 dbSNP gnomAD v4
1g.16986015G>TCA2643667520ATP13A2c.*206C>A (n.*206C>A)
c.3447C>A (p.Pro1149=)
n.1795C>A
c.1167C>A (p.Pro389=)
c.3579C>A (p.Pro1193=)
c.3576C>A (p.Pro1192=)
c.3564C>A (p.Pro1188=)
c.3552C>A (p.Pro1184=)
c.3519C>A (p.Pro1173=)
c.3462C>A (p.Pro1154=)
c.3561C>A (p.Pro1187=)
c.3537C>A (p.Pro1179=)
c.3372C>A (p.Pro1124=)
 gnomAD v4
1g.16986016G>ACA338230431ATP13A2c.*205C>T (n.*205C>T)
c.3446C>T (p.Pro1149Leu)
n.1794C>T
c.1166C>T (p.Pro389Leu)
c.3578C>T (p.Pro1193Leu)
c.3575C>T (p.Pro1192Leu)
c.3563C>T (p.Pro1188Leu)
c.3551C>T (p.Pro1184Leu)
c.3518C>T (p.Pro1173Leu)
c.3461C>T (p.Pro1154Leu)
c.3560C>T (p.Pro1187Leu)
c.3536C>T (p.Pro1179Leu)
c.3371C>T (p.Pro1124Leu)
1g.16986016G>CCA338230432ATP13A2c.*205C>G (n.*205C>G)
c.3446C>G (p.Pro1149Arg)
n.1794C>G
c.1166C>G (p.Pro389Arg)
c.3578C>G (p.Pro1193Arg)
c.3575C>G (p.Pro1192Arg)
c.3563C>G (p.Pro1188Arg)
c.3551C>G (p.Pro1184Arg)
c.3518C>G (p.Pro1173Arg)
c.3461C>G (p.Pro1154Arg)
c.3560C>G (p.Pro1187Arg)
c.3536C>G (p.Pro1179Arg)
c.3371C>G (p.Pro1124Arg)
1g.16986016G>TCA338230433ATP13A2c.*205C>A (n.*205C>A)
c.3446C>A (p.Pro1149His)
n.1794C>A
c.1166C>A (p.Pro389His)
c.3578C>A (p.Pro1193His)
c.3575C>A (p.Pro1192His)
c.3563C>A (p.Pro1188His)
c.3551C>A (p.Pro1184His)
c.3518C>A (p.Pro1173His)
c.3461C>A (p.Pro1154His)
c.3560C>A (p.Pro1187His)
c.3536C>A (p.Pro1179His)
c.3371C>A (p.Pro1124His)
1g.16986017G>ACA338230436ATP13A2c.*204C>T (n.*204C>T)
c.3445C>T (p.Pro1149Ser)
n.1793C>T
c.1165C>T (p.Pro389Ser)
c.3577C>T (p.Pro1193Ser)
c.3574C>T (p.Pro1192Ser)
c.3562C>T (p.Pro1188Ser)
c.3550C>T (p.Pro1184Ser)
c.3517C>T (p.Pro1173Ser)
c.3460C>T (p.Pro1154Ser)
c.3559C>T (p.Pro1187Ser)
c.3535C>T (p.Pro1179Ser)
c.3370C>T (p.Pro1124Ser)
 dbSNP gnomAD v2
1g.16986017G>CCA338230435ATP13A2c.*204C>G (n.*204C>G)
c.3445C>G (p.Pro1149Ala)
n.1793C>G
c.1165C>G (p.Pro389Ala)
c.3577C>G (p.Pro1193Ala)
c.3574C>G (p.Pro1192Ala)
c.3562C>G (p.Pro1188Ala)
c.3550C>G (p.Pro1184Ala)
c.3517C>G (p.Pro1173Ala)
c.3460C>G (p.Pro1154Ala)
c.3559C>G (p.Pro1187Ala)
c.3535C>G (p.Pro1179Ala)
c.3370C>G (p.Pro1124Ala)
1g.16986017G=CA1156048608ATP13A2c.*204C= (n.*204C=)
c.3445C= (p.Pro1149=)
n.1793C=
c.1165C= (p.Pro389=)
c.3577C= (p.Pro1193=)
c.3574C= (p.Pro1192=)
c.3562C= (p.Pro1188=)
c.3550C= (p.Pro1184=)
c.3517C= (p.Pro1173=)
c.3460C= (p.Pro1154=)
c.3559C= (p.Pro1187=)
c.3535C= (p.Pro1179=)
c.3370C= (p.Pro1124=)
1g.16986017G>TCA338230434ATP13A2c.*204C>A (n.*204C>A)
c.3445C>A (p.Pro1149Thr)
n.1793C>A
c.1165C>A (p.Pro389Thr)
c.3577C>A (p.Pro1193Thr)
c.3574C>A (p.Pro1192Thr)
c.3562C>A (p.Pro1188Thr)
c.3550C>A (p.Pro1184Thr)
c.3517C>A (p.Pro1173Thr)
c.3460C>A (p.Pro1154Thr)
c.3559C>A (p.Pro1187Thr)
c.3535C>A (p.Pro1179Thr)
c.3370C>A (p.Pro1124Thr)
 gnomAD v4
1g.16986018G>ACA2643667525ATP13A2c.*203C>T (n.*203C>T)
c.3444C>T (p.Ser1148=)
n.1792C>T
c.1164C>T (p.Ser388=)
c.3576C>T (p.Ser1192=)
c.3573C>T (p.Ser1191=)
c.3561C>T (p.Ser1187=)
c.3549C>T (p.Ser1183=)
c.3516C>T (p.Ser1172=)
c.3459C>T (p.Ser1153=)
c.3558C>T (p.Ser1186=)
c.3534C>T (p.Ser1178=)
c.3369C>T (p.Ser1123=)
 gnomAD v4
1g.16986018G>CCA338230438ATP13A2c.*203C>G (n.*203C>G)
c.3444C>G (p.Ser1148Arg)
n.1792C>G
c.1164C>G (p.Ser388Arg)
c.3576C>G (p.Ser1192Arg)
c.3573C>G (p.Ser1191Arg)
c.3561C>G (p.Ser1187Arg)
c.3549C>G (p.Ser1183Arg)
c.3516C>G (p.Ser1172Arg)
c.3459C>G (p.Ser1153Arg)
c.3558C>G (p.Ser1186Arg)
c.3534C>G (p.Ser1178Arg)
c.3369C>G (p.Ser1123Arg)
1g.16986018G=CA1156048610ATP13A2c.*203C= (n.*203C=)
c.3444C= (p.Ser1148=)
n.1792C=
c.1164C= (p.Ser388=)
c.3576C= (p.Ser1192=)
c.3573C= (p.Ser1191=)
c.3561C= (p.Ser1187=)
c.3549C= (p.Ser1183=)
c.3516C= (p.Ser1172=)
c.3459C= (p.Ser1153=)
c.3558C= (p.Ser1186=)
c.3534C= (p.Ser1178=)
c.3369C= (p.Ser1123=)
1g.16986018G>TCA338230440ATP13A2c.*203C>A (n.*203C>A)
c.3444C>A (p.Ser1148Arg)
n.1792C>A
c.1164C>A (p.Ser388Arg)
c.3576C>A (p.Ser1192Arg)
c.3573C>A (p.Ser1191Arg)
c.3561C>A (p.Ser1187Arg)
c.3549C>A (p.Ser1183Arg)
c.3516C>A (p.Ser1172Arg)
c.3459C>A (p.Ser1153Arg)
c.3558C>A (p.Ser1186Arg)
c.3534C>A (p.Ser1178Arg)
c.3369C>A (p.Ser1123Arg)
 dbSNP gnomAD v4
1g.16986019C>ACA338230441ATP13A2c.*202G>T (n.*202G>T)
c.3443G>T (p.Ser1148Ile)
n.1791G>T
c.1163G>T (p.Ser388Ile)
c.3575G>T (p.Ser1192Ile)
c.3572G>T (p.Ser1191Ile)
c.3560G>T (p.Ser1187Ile)
c.3548G>T (p.Ser1183Ile)
c.3515G>T (p.Ser1172Ile)
c.3458G>T (p.Ser1153Ile)
c.3557G>T (p.Ser1186Ile)
c.3533G>T (p.Ser1178Ile)
c.3368G>T (p.Ser1123Ile)
 gnomAD v4
1g.16986019C>GCA338230442ATP13A2c.*202G>C (n.*202G>C)
c.3443G>C (p.Ser1148Thr)
n.1791G>C
c.1163G>C (p.Ser388Thr)
c.3575G>C (p.Ser1192Thr)
c.3572G>C (p.Ser1191Thr)
c.3560G>C (p.Ser1187Thr)
c.3548G>C (p.Ser1183Thr)
c.3515G>C (p.Ser1172Thr)
c.3458G>C (p.Ser1153Thr)
c.3557G>C (p.Ser1186Thr)
c.3533G>C (p.Ser1178Thr)
c.3368G>C (p.Ser1123Thr)
1g.16986019C>TCA338230443ATP13A2c.*202G>A (n.*202G>A)
c.3443G>A (p.Ser1148Asn)
n.1791G>A
c.1163G>A (p.Ser388Asn)
c.3575G>A (p.Ser1192Asn)
c.3572G>A (p.Ser1191Asn)
c.3560G>A (p.Ser1187Asn)
c.3548G>A (p.Ser1183Asn)
c.3515G>A (p.Ser1172Asn)
c.3458G>A (p.Ser1153Asn)
c.3557G>A (p.Ser1186Asn)
c.3533G>A (p.Ser1178Asn)
c.3368G>A (p.Ser1123Asn)
 gnomAD v4
1g.16986020T>ACA338230444ATP13A2c.*201A>T (n.*201A>T)
c.3442A>T (p.Ser1148Cys)
n.1790A>T
c.1162A>T (p.Ser388Cys)
c.3574A>T (p.Ser1192Cys)
c.3571A>T (p.Ser1191Cys)
c.3559A>T (p.Ser1187Cys)
c.3547A>T (p.Ser1183Cys)
c.3514A>T (p.Ser1172Cys)
c.3457A>T (p.Ser1153Cys)
c.3556A>T (p.Ser1186Cys)
c.3532A>T (p.Ser1178Cys)
c.3367A>T (p.Ser1123Cys)
1g.16986020T>CCA636409ATP13A2c.*201A>G (n.*201A>G)
c.3442A>G (p.Ser1148Gly)
n.1790A>G
c.1162A>G (p.Ser388Gly)
c.3574A>G (p.Ser1192Gly)
c.3571A>G (p.Ser1191Gly)
c.3559A>G (p.Ser1187Gly)
c.3547A>G (p.Ser1183Gly)
c.3514A>G (p.Ser1172Gly)
c.3457A>G (p.Ser1153Gly)
c.3556A>G (p.Ser1186Gly)
c.3532A>G (p.Ser1178Gly)
c.3367A>G (p.Ser1123Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986020T>GCA338230445ATP13A2c.*201A>C (n.*201A>C)
c.3442A>C (p.Ser1148Arg)
n.1790A>C
c.1162A>C (p.Ser388Arg)
c.3574A>C (p.Ser1192Arg)
c.3571A>C (p.Ser1191Arg)
c.3559A>C (p.Ser1187Arg)
c.3547A>C (p.Ser1183Arg)
c.3514A>C (p.Ser1172Arg)
c.3457A>C (p.Ser1153Arg)
c.3556A>C (p.Ser1186Arg)
c.3532A>C (p.Ser1178Arg)
c.3367A>C (p.Ser1123Arg)
1g.16986020T=CA1156048614ATP13A2c.*201A= (n.*201A=)
c.3442A= (p.Ser1148=)
n.1790A=
c.1162A= (p.Ser388=)
c.3574A= (p.Ser1192=)
c.3571A= (p.Ser1191=)
c.3559A= (p.Ser1187=)
c.3547A= (p.Ser1183=)
c.3514A= (p.Ser1172=)
c.3457A= (p.Ser1153=)
c.3556A= (p.Ser1186=)
c.3532A= (p.Ser1178=)
c.3367A= (p.Ser1123=)
1g.16986021G>ACA999084871ATP13A2c.*200C>T (n.*200C>T)
c.3441C>T (p.Gly1147=)
n.1789C>T
c.1161C>T (p.Gly387=)
c.3573C>T (p.Gly1191=)
c.3570C>T (p.Gly1190=)
c.3558C>T (p.Gly1186=)
c.3546C>T (p.Gly1182=)
c.3513C>T (p.Gly1171=)
c.3456C>T (p.Gly1152=)
c.3555C>T (p.Gly1185=)
c.3531C>T (p.Gly1177=)
c.3366C>T (p.Gly1122=)
 dbSNP gnomAD v3 gnomAD v4
1g.16986021G>CCA2643667539ATP13A2c.*200C>G (n.*200C>G)
c.3441C>G (p.Gly1147=)
n.1789C>G
c.1161C>G (p.Gly387=)
c.3573C>G (p.Gly1191=)
c.3570C>G (p.Gly1190=)
c.3558C>G (p.Gly1186=)
c.3546C>G (p.Gly1182=)
c.3513C>G (p.Gly1171=)
c.3456C>G (p.Gly1152=)
c.3555C>G (p.Gly1185=)
c.3531C>G (p.Gly1177=)
c.3366C>G (p.Gly1122=)
 gnomAD v4
1g.16986021G=CA1156048626ATP13A2c.*200C= (n.*200C=)
c.3441C= (p.Gly1147=)
n.1789C=
c.1161C= (p.Gly387=)
c.3573C= (p.Gly1191=)
c.3570C= (p.Gly1190=)
c.3558C= (p.Gly1186=)
c.3546C= (p.Gly1182=)
c.3513C= (p.Gly1171=)
c.3456C= (p.Gly1152=)
c.3555C= (p.Gly1185=)
c.3531C= (p.Gly1177=)
c.3366C= (p.Gly1122=)
1g.16986021G>TCA2643667540ATP13A2c.*200C>A (n.*200C>A)
c.3441C>A (p.Gly1147=)
n.1789C>A
c.1161C>A (p.Gly387=)
c.3573C>A (p.Gly1191=)
c.3570C>A (p.Gly1190=)
c.3558C>A (p.Gly1186=)
c.3546C>A (p.Gly1182=)
c.3513C>A (p.Gly1171=)
c.3456C>A (p.Gly1152=)
c.3555C>A (p.Gly1185=)
c.3531C>A (p.Gly1177=)
c.3366C>A (p.Gly1122=)
 gnomAD v4
1g.16986022C>ACA338230446ATP13A2c.*199G>T (n.*199G>T)
c.3440G>T (p.Gly1147Val)
n.1788G>T
c.1160G>T (p.Gly387Val)
c.3572G>T (p.Gly1191Val)
c.3569G>T (p.Gly1190Val)
c.3557G>T (p.Gly1186Val)
c.3545G>T (p.Gly1182Val)
c.3512G>T (p.Gly1171Val)
c.3455G>T (p.Gly1152Val)
c.3554G>T (p.Gly1185Val)
c.3530G>T (p.Gly1177Val)
c.3365G>T (p.Gly1122Val)
 gnomAD v4
1g.16986022C>GCA338230447ATP13A2c.*199G>C (n.*199G>C)
c.3440G>C (p.Gly1147Ala)
n.1788G>C
c.1160G>C (p.Gly387Ala)
c.3572G>C (p.Gly1191Ala)
c.3569G>C (p.Gly1190Ala)
c.3557G>C (p.Gly1186Ala)
c.3545G>C (p.Gly1182Ala)
c.3512G>C (p.Gly1171Ala)
c.3455G>C (p.Gly1152Ala)
c.3554G>C (p.Gly1185Ala)
c.3530G>C (p.Gly1177Ala)
c.3365G>C (p.Gly1122Ala)
1g.16986022C>TCA338230449ATP13A2c.*199G>A (n.*199G>A)
c.3440G>A (p.Gly1147Asp)
n.1788G>A
c.1160G>A (p.Gly387Asp)
c.3572G>A (p.Gly1191Asp)
c.3569G>A (p.Gly1190Asp)
c.3557G>A (p.Gly1186Asp)
c.3545G>A (p.Gly1182Asp)
c.3512G>A (p.Gly1171Asp)
c.3455G>A (p.Gly1152Asp)
c.3554G>A (p.Gly1185Asp)
c.3530G>A (p.Gly1177Asp)
c.3365G>A (p.Gly1122Asp)
 gnomAD v4
1g.16986023C>ACA338230454ATP13A2c.*198G>T (n.*198G>T)
c.3439G>T (p.Gly1147Cys)
n.1787G>T
c.1159G>T (p.Gly387Cys)
c.3571G>T (p.Gly1191Cys)
c.3568G>T (p.Gly1190Cys)
c.3556G>T (p.Gly1186Cys)
c.3544G>T (p.Gly1182Cys)
c.3511G>T (p.Gly1171Cys)
c.3454G>T (p.Gly1152Cys)
c.3553G>T (p.Gly1185Cys)
c.3529G>T (p.Gly1177Cys)
c.3364G>T (p.Gly1122Cys)
1g.16986023C>GCA338230453ATP13A2c.*198G>C (n.*198G>C)
c.3439G>C (p.Gly1147Arg)
n.1787G>C
c.1159G>C (p.Gly387Arg)
c.3571G>C (p.Gly1191Arg)
c.3568G>C (p.Gly1190Arg)
c.3556G>C (p.Gly1186Arg)
c.3544G>C (p.Gly1182Arg)
c.3511G>C (p.Gly1171Arg)
c.3454G>C (p.Gly1152Arg)
c.3553G>C (p.Gly1185Arg)
c.3529G>C (p.Gly1177Arg)
c.3364G>C (p.Gly1122Arg)
1g.16986023C>TCA338230452ATP13A2c.*198G>A (n.*198G>A)
c.3439G>A (p.Gly1147Ser)
n.1787G>A
c.1159G>A (p.Gly387Ser)
c.3571G>A (p.Gly1191Ser)
c.3568G>A (p.Gly1190Ser)
c.3556G>A (p.Gly1186Ser)
c.3544G>A (p.Gly1182Ser)
c.3511G>A (p.Gly1171Ser)
c.3454G>A (p.Gly1152Ser)
c.3553G>A (p.Gly1185Ser)
c.3529G>A (p.Gly1177Ser)
c.3364G>A (p.Gly1122Ser)
1g.16986025C>ACA338230456ATP13A2c.*196G>T (n.*196G>T)
c.3437G>T (p.Gly1146Val)
n.1785G>T
c.1157G>T (p.Gly386Val)
c.3569G>T (p.Gly1190Val)
c.3566G>T (p.Gly1189Val)
c.3554G>T (p.Gly1185Val)
c.3542G>T (p.Gly1181Val)
c.3509G>T (p.Gly1170Val)
c.3452G>T (p.Gly1151Val)
c.3551G>T (p.Gly1184Val)
c.3527G>T (p.Gly1176Val)
c.3362G>T (p.Gly1121Val)
1g.16986025C=CA1156048631ATP13A2c.*196G= (n.*196G=)
c.3437G= (p.Gly1146=)
n.1785G=
c.1157G= (p.Gly386=)
c.3569G= (p.Gly1190=)
c.3566G= (p.Gly1189=)
c.3554G= (p.Gly1185=)
c.3542G= (p.Gly1181=)
c.3509G= (p.Gly1170=)
c.3452G= (p.Gly1151=)
c.3551G= (p.Gly1184=)
c.3527G= (p.Gly1176=)
c.3362G= (p.Gly1121=)
1g.16986025C>GCA338230458ATP13A2c.*196G>C (n.*196G>C)
c.3437G>C (p.Gly1146Ala)
n.1785G>C
c.1157G>C (p.Gly386Ala)
c.3569G>C (p.Gly1190Ala)
c.3566G>C (p.Gly1189Ala)
c.3554G>C (p.Gly1185Ala)
c.3542G>C (p.Gly1181Ala)
c.3509G>C (p.Gly1170Ala)
c.3452G>C (p.Gly1151Ala)
c.3551G>C (p.Gly1184Ala)
c.3527G>C (p.Gly1176Ala)
c.3362G>C (p.Gly1121Ala)
1g.16986025C>TCA338230459ATP13A2c.*196G>A (n.*196G>A)
c.3437G>A (p.Gly1146Asp)
n.1785G>A
c.1157G>A (p.Gly386Asp)
c.3569G>A (p.Gly1190Asp)
c.3566G>A (p.Gly1189Asp)
c.3554G>A (p.Gly1185Asp)
c.3542G>A (p.Gly1181Asp)
c.3509G>A (p.Gly1170Asp)
c.3452G>A (p.Gly1151Asp)
c.3551G>A (p.Gly1184Asp)
c.3527G>A (p.Gly1176Asp)
c.3362G>A (p.Gly1121Asp)
 dbSNP gnomAD v2
1g.16986026C>ACA338230460ATP13A2c.*195G>T (n.*195G>T)
c.3436G>T (p.Gly1146Cys)
n.1784G>T
c.1156G>T (p.Gly386Cys)
c.3568G>T (p.Gly1190Cys)
c.3565G>T (p.Gly1189Cys)
c.3553G>T (p.Gly1185Cys)
c.3541G>T (p.Gly1181Cys)
c.3508G>T (p.Gly1170Cys)
c.3451G>T (p.Gly1151Cys)
c.3550G>T (p.Gly1184Cys)
c.3526G>T (p.Gly1176Cys)
c.3361G>T (p.Gly1121Cys)
1g.16986026C=CA1156048644ATP13A2c.*195G= (n.*195G=)
c.3436G= (p.Gly1146=)
n.1784G=
c.1156G= (p.Gly386=)
c.3568G= (p.Gly1190=)
c.3565G= (p.Gly1189=)
c.3553G= (p.Gly1185=)
c.3541G= (p.Gly1181=)
c.3508G= (p.Gly1170=)
c.3451G= (p.Gly1151=)
c.3550G= (p.Gly1184=)
c.3526G= (p.Gly1176=)
c.3361G= (p.Gly1121=)
1g.16986026C>GCA338230461ATP13A2c.*195G>C (n.*195G>C)
c.3436G>C (p.Gly1146Arg)
n.1784G>C
c.1156G>C (p.Gly386Arg)
c.3568G>C (p.Gly1190Arg)
c.3565G>C (p.Gly1189Arg)
c.3553G>C (p.Gly1185Arg)
c.3541G>C (p.Gly1181Arg)
c.3508G>C (p.Gly1170Arg)
c.3451G>C (p.Gly1151Arg)
c.3550G>C (p.Gly1184Arg)
c.3526G>C (p.Gly1176Arg)
c.3361G>C (p.Gly1121Arg)
 dbSNP
1g.16986026C>TCA338230462ATP13A2c.*195G>A (n.*195G>A)
c.3436G>A (p.Gly1146Ser)
n.1784G>A
c.1156G>A (p.Gly386Ser)
c.3568G>A (p.Gly1190Ser)
c.3565G>A (p.Gly1189Ser)
c.3553G>A (p.Gly1185Ser)
c.3541G>A (p.Gly1181Ser)
c.3508G>A (p.Gly1170Ser)
c.3451G>A (p.Gly1151Ser)
c.3550G>A (p.Gly1184Ser)
c.3526G>A (p.Gly1176Ser)
c.3361G>A (p.Gly1121Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.16986027C>ACA338230463ATP13A2c.*194G>T (n.*194G>T)
c.3435G>T (p.Arg1145Ser)
n.1783G>T
c.1155G>T (p.Arg385Ser)
c.3567G>T (p.Arg1189Ser)
c.3564G>T (p.Arg1188Ser)
c.3552G>T (p.Arg1184Ser)
c.3540G>T (p.Arg1180Ser)
c.3507G>T (p.Arg1169Ser)
c.3450G>T (p.Arg1150Ser)
c.3549G>T (p.Arg1183Ser)
c.3525G>T (p.Arg1175Ser)
c.3360G>T (p.Arg1120Ser)
 gnomAD v4
1g.16986027C>GCA338230464ATP13A2c.*194G>C (n.*194G>C)
c.3435G>C (p.Arg1145Ser)
n.1783G>C
c.1155G>C (p.Arg385Ser)
c.3567G>C (p.Arg1189Ser)
c.3564G>C (p.Arg1188Ser)
c.3552G>C (p.Arg1184Ser)
c.3540G>C (p.Arg1180Ser)
c.3507G>C (p.Arg1169Ser)
c.3450G>C (p.Arg1150Ser)
c.3549G>C (p.Arg1183Ser)
c.3525G>C (p.Arg1175Ser)
c.3360G>C (p.Arg1120Ser)
1g.16986028C>ACA338230465ATP13A2c.*193G>T (n.*193G>T)
c.3434G>T (p.Arg1145Met)
n.1782G>T
c.1154G>T (p.Arg385Met)
c.3566G>T (p.Arg1189Met)
c.3563G>T (p.Arg1188Met)
c.3551G>T (p.Arg1184Met)
c.3539G>T (p.Arg1180Met)
c.3506G>T (p.Arg1169Met)
c.3449G>T (p.Arg1150Met)
c.3548G>T (p.Arg1183Met)
c.3524G>T (p.Arg1175Met)
c.3359G>T (p.Arg1120Met)
 gnomAD v4
1g.16986028C=CA1156048648ATP13A2c.*193G= (n.*193G=)
c.3434G= (p.Arg1145=)
n.1782G=
c.1154G= (p.Arg385=)
c.3566G= (p.Arg1189=)
c.3563G= (p.Arg1188=)
c.3551G= (p.Arg1184=)
c.3539G= (p.Arg1180=)
c.3506G= (p.Arg1169=)
c.3449G= (p.Arg1150=)
c.3548G= (p.Arg1183=)
c.3524G= (p.Arg1175=)
c.3359G= (p.Arg1120=)
1g.16986028C>GCA338230467ATP13A2c.*193G>C (n.*193G>C)
c.3434G>C (p.Arg1145Thr)
n.1782G>C
c.1154G>C (p.Arg385Thr)
c.3566G>C (p.Arg1189Thr)
c.3563G>C (p.Arg1188Thr)
c.3551G>C (p.Arg1184Thr)
c.3539G>C (p.Arg1180Thr)
c.3506G>C (p.Arg1169Thr)
c.3449G>C (p.Arg1150Thr)
c.3548G>C (p.Arg1183Thr)
c.3524G>C (p.Arg1175Thr)
c.3359G>C (p.Arg1120Thr)
1g.16986028C>TCA338230468ATP13A2c.*193G>A (n.*193G>A)
c.3434G>A (p.Arg1145Lys)
n.1782G>A
c.1154G>A (p.Arg385Lys)
c.3566G>A (p.Arg1189Lys)
c.3563G>A (p.Arg1188Lys)
c.3551G>A (p.Arg1184Lys)
c.3539G>A (p.Arg1180Lys)
c.3506G>A (p.Arg1169Lys)
c.3449G>A (p.Arg1150Lys)
c.3548G>A (p.Arg1183Lys)
c.3524G>A (p.Arg1175Lys)
c.3359G>A (p.Arg1120Lys)
 dbSNP gnomAD v2
1g.16986029T>ACA338230469ATP13A2c.*192A>T (n.*192A>T)
c.3433A>T (p.Arg1145Trp)
n.1781A>T
c.1153A>T (p.Arg385Trp)
c.3565A>T (p.Arg1189Trp)
c.3562A>T (p.Arg1188Trp)
c.3550A>T (p.Arg1184Trp)
c.3538A>T (p.Arg1180Trp)
c.3505A>T (p.Arg1169Trp)
c.3448A>T (p.Arg1150Trp)
c.3547A>T (p.Arg1183Trp)
c.3523A>T (p.Arg1175Trp)
c.3358A>T (p.Arg1120Trp)
1g.16986029T>CCA338230471ATP13A2c.*192A>G (n.*192A>G)
c.3433A>G (p.Arg1145Gly)
n.1781A>G
c.1153A>G (p.Arg385Gly)
c.3565A>G (p.Arg1189Gly)
c.3562A>G (p.Arg1188Gly)
c.3550A>G (p.Arg1184Gly)
c.3538A>G (p.Arg1180Gly)
c.3505A>G (p.Arg1169Gly)
c.3448A>G (p.Arg1150Gly)
c.3547A>G (p.Arg1183Gly)
c.3523A>G (p.Arg1175Gly)
c.3358A>G (p.Arg1120Gly)
1g.16986030A>CCA2742637999ATP13A2c.*191T>G (n.*191T>G)
c.3432T>G (p.Arg1144=)
n.1780T>G
c.1152T>G (p.Arg384=)
c.3564T>G (p.Arg1188=)
c.3561T>G (p.Arg1187=)
c.3549T>G (p.Arg1183=)
c.3537T>G (p.Arg1179=)
c.3504T>G (p.Arg1168=)
c.3447T>G (p.Arg1149=)
c.3546T>G (p.Arg1182=)
c.3522T>G (p.Arg1174=)
c.3357T>G (p.Arg1119=)
1g.16986030A>GCA2643667553ATP13A2c.*191T>C (n.*191T>C)
c.3432T>C (p.Arg1144=)
n.1780T>C
c.1152T>C (p.Arg384=)
c.3564T>C (p.Arg1188=)
c.3561T>C (p.Arg1187=)
c.3549T>C (p.Arg1183=)
c.3537T>C (p.Arg1179=)
c.3504T>C (p.Arg1168=)
c.3447T>C (p.Arg1149=)
c.3546T>C (p.Arg1182=)
c.3522T>C (p.Arg1174=)
c.3357T>C (p.Arg1119=)
 gnomAD v4
1g.16986031C>ACA18624245ATP13A2c.*190G>T (n.*190G>T)
c.3431G>T (p.Arg1144Leu)
n.1779G>T
c.1151G>T (p.Arg384Leu)
c.3563G>T (p.Arg1188Leu)
c.3560G>T (p.Arg1187Leu)
c.3548G>T (p.Arg1183Leu)
c.3536G>T (p.Arg1179Leu)
c.3503G>T (p.Arg1168Leu)
c.3446G>T (p.Arg1149Leu)
c.3545G>T (p.Arg1182Leu)
c.3521G>T (p.Arg1174Leu)
c.3356G>T (p.Arg1119Leu)
 dbSNP gnomAD v4
1g.16986031C=CA1146496101ATP13A2c.*190G= (n.*190G=)
c.3431G= (p.Arg1144=)
n.1779G=
c.1151G= (p.Arg384=)
c.3563G= (p.Arg1188=)
c.3560G= (p.Arg1187=)
c.3548G= (p.Arg1183=)
c.3536G= (p.Arg1179=)
c.3503G= (p.Arg1168=)
c.3446G= (p.Arg1149=)
c.3545G= (p.Arg1182=)
c.3521G= (p.Arg1174=)
c.3356G= (p.Arg1119=)
1g.16986031C>GCA338230474ATP13A2c.*190G>C (n.*190G>C)
c.3431G>C (p.Arg1144Pro)
n.1779G>C
c.1151G>C (p.Arg384Pro)
c.3563G>C (p.Arg1188Pro)
c.3560G>C (p.Arg1187Pro)
c.3548G>C (p.Arg1183Pro)
c.3536G>C (p.Arg1179Pro)
c.3503G>C (p.Arg1168Pro)
c.3446G>C (p.Arg1149Pro)
c.3545G>C (p.Arg1182Pro)
c.3521G>C (p.Arg1174Pro)
c.3356G>C (p.Arg1119Pro)
1g.16986031C>TCA636410ATP13A2c.*190G>A (n.*190G>A)
c.3431G>A (p.Arg1144His)
n.1779G>A
c.1151G>A (p.Arg384His)
c.3563G>A (p.Arg1188His)
c.3560G>A (p.Arg1187His)
c.3548G>A (p.Arg1183His)
c.3536G>A (p.Arg1179His)
c.3503G>A (p.Arg1168His)
c.3446G>A (p.Arg1149His)
c.3545G>A (p.Arg1182His)
c.3521G>A (p.Arg1174His)
c.3356G>A (p.Arg1119His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.16986032G>ACA18624254ATP13A2c.*189C>T (n.*189C>T)
c.3430C>T (p.Arg1144Cys)
n.1778C>T
c.1150C>T (p.Arg384Cys)
c.3562C>T (p.Arg1188Cys)
c.3559C>T (p.Arg1187Cys)
c.3547C>T (p.Arg1183Cys)
c.3535C>T (p.Arg1179Cys)
c.3502C>T (p.Arg1168Cys)
c.3445C>T (p.Arg1149Cys)
c.3544C>T (p.Arg1182Cys)
c.3520C>T (p.Arg1174Cys)
c.3355C>T (p.Arg1119Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.16986032G>CCA338230480ATP13A2c.*189C>G (n.*189C>G)
c.3430C>G (p.Arg1144Gly)
n.1778C>G
c.1150C>G (p.Arg384Gly)
c.3562C>G (p.Arg1188Gly)
c.3559C>G (p.Arg1187Gly)
c.3547C>G (p.Arg1183Gly)
c.3535C>G (p.Arg1179Gly)
c.3502C>G (p.Arg1168Gly)
c.3445C>G (p.Arg1149Gly)
c.3544C>G (p.Arg1182Gly)
c.3520C>G (p.Arg1174Gly)
c.3355C>G (p.Arg1119Gly)
1g.16986032G=CA1156048655ATP13A2c.*189C= (n.*189C=)
c.3430C= (p.Arg1144=)
n.1778C=
c.1150C= (p.Arg384=)
c.3562C= (p.Arg1188=)
c.3559C= (p.Arg1187=)
c.3547C= (p.Arg1183=)
c.3535C= (p.Arg1179=)
c.3502C= (p.Arg1168=)
c.3445C= (p.Arg1149=)
c.3544C= (p.Arg1182=)
c.3520C= (p.Arg1174=)
c.3355C= (p.Arg1119=)
1g.16986032G>TCA338230481ATP13A2c.*189C>A (n.*189C>A)
c.3430C>A (p.Arg1144Ser)
n.1778C>A
c.1150C>A (p.Arg384Ser)
c.3562C>A (p.Arg1188Ser)
c.3559C>A (p.Arg1187Ser)
c.3547C>A (p.Arg1183Ser)
c.3535C>A (p.Arg1179Ser)
c.3502C>A (p.Arg1168Ser)
c.3445C>A (p.Arg1149Ser)
c.3544C>A (p.Arg1182Ser)
c.3520C>A (p.Arg1174Ser)
c.3355C>A (p.Arg1119Ser)
 gnomAD v4
1g.16986033C=CA1156048661ATP13A2c.*188G= (n.*188G=)
c.3429G= (p.Pro1143=)
n.1777G=
c.1149G= (p.Pro383=)
c.3561G= (p.Pro1187=)
c.3558G= (p.Pro1186=)
c.3546G= (p.Pro1182=)
c.3534G= (p.Pro1178=)
c.3501G= (p.Pro1167=)
c.3444G= (p.Pro1148=)
c.3543G= (p.Pro1181=)
c.3519G= (p.Pro1173=)
c.3354G= (p.Pro1118=)
1g.16986033C>TCA636411ATP13A2c.*188G>A (n.*188G>A)
c.3429G>A (p.Pro1143=)
n.1777G>A
c.1149G>A (p.Pro383=)
c.3561G>A (p.Pro1187=)
c.3558G>A (p.Pro1186=)
c.3546G>A (p.Pro1182=)
c.3534G>A (p.Pro1178=)
c.3501G>A (p.Pro1167=)
c.3444G>A (p.Pro1148=)
c.3543G>A (p.Pro1181=)
c.3519G>A (p.Pro1173=)
c.3354G>A (p.Pro1118=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986034G>ACA338230484ATP13A2c.*187C>T (n.*187C>T)
c.3428C>T (p.Pro1143Leu)
n.1776C>T
c.1148C>T (p.Pro383Leu)
c.3560C>T (p.Pro1187Leu)
c.3557C>T (p.Pro1186Leu)
c.3545C>T (p.Pro1182Leu)
c.3533C>T (p.Pro1178Leu)
c.3500C>T (p.Pro1167Leu)
c.3443C>T (p.Pro1148Leu)
c.3542C>T (p.Pro1181Leu)
c.3518C>T (p.Pro1173Leu)
c.3353C>T (p.Pro1118Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986034G>CCA338230485ATP13A2c.*187C>G (n.*187C>G)
c.3428C>G (p.Pro1143Arg)
n.1776C>G
c.1148C>G (p.Pro383Arg)
c.3560C>G (p.Pro1187Arg)
c.3557C>G (p.Pro1186Arg)
c.3545C>G (p.Pro1182Arg)
c.3533C>G (p.Pro1178Arg)
c.3500C>G (p.Pro1167Arg)
c.3443C>G (p.Pro1148Arg)
c.3542C>G (p.Pro1181Arg)
c.3518C>G (p.Pro1173Arg)
c.3353C>G (p.Pro1118Arg)
1g.16986034G=CA1156048666ATP13A2c.*187C= (n.*187C=)
c.3428C= (p.Pro1143=)
n.1776C=
c.1148C= (p.Pro383=)
c.3560C= (p.Pro1187=)
c.3557C= (p.Pro1186=)
c.3545C= (p.Pro1182=)
c.3533C= (p.Pro1178=)
c.3500C= (p.Pro1167=)
c.3443C= (p.Pro1148=)
c.3542C= (p.Pro1181=)
c.3518C= (p.Pro1173=)
c.3353C= (p.Pro1118=)
1g.16986034G>TCA338230487ATP13A2c.*187C>A (n.*187C>A)
c.3428C>A (p.Pro1143Gln)
n.1776C>A
c.1148C>A (p.Pro383Gln)
c.3560C>A (p.Pro1187Gln)
c.3557C>A (p.Pro1186Gln)
c.3545C>A (p.Pro1182Gln)
c.3533C>A (p.Pro1178Gln)
c.3500C>A (p.Pro1167Gln)
c.3443C>A (p.Pro1148Gln)
c.3542C>A (p.Pro1181Gln)
c.3518C>A (p.Pro1173Gln)
c.3353C>A (p.Pro1118Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986035G>ACA338230488ATP13A2c.*186C>T (n.*186C>T)
c.3427C>T (p.Pro1143Ser)
n.1775C>T
c.1147C>T (p.Pro383Ser)
c.3559C>T (p.Pro1187Ser)
c.3556C>T (p.Pro1186Ser)
c.3544C>T (p.Pro1182Ser)
c.3532C>T (p.Pro1178Ser)
c.3499C>T (p.Pro1167Ser)
c.3442C>T (p.Pro1148Ser)
c.3541C>T (p.Pro1181Ser)
c.3517C>T (p.Pro1173Ser)
c.3352C>T (p.Pro1118Ser)
1g.16986035G>CCA338230490ATP13A2c.*186C>G (n.*186C>G)
c.3427C>G (p.Pro1143Ala)
n.1775C>G
c.1147C>G (p.Pro383Ala)
c.3559C>G (p.Pro1187Ala)
c.3556C>G (p.Pro1186Ala)
c.3544C>G (p.Pro1182Ala)
c.3532C>G (p.Pro1178Ala)
c.3499C>G (p.Pro1167Ala)
c.3442C>G (p.Pro1148Ala)
c.3541C>G (p.Pro1181Ala)
c.3517C>G (p.Pro1173Ala)
c.3352C>G (p.Pro1118Ala)
1g.16986035G>TCA338230491ATP13A2c.*186C>A (n.*186C>A)
c.3427C>A (p.Pro1143Thr)
n.1775C>A
c.1147C>A (p.Pro383Thr)
c.3559C>A (p.Pro1187Thr)
c.3556C>A (p.Pro1186Thr)
c.3544C>A (p.Pro1182Thr)
c.3532C>A (p.Pro1178Thr)
c.3499C>A (p.Pro1167Thr)
c.3442C>A (p.Pro1148Thr)
c.3541C>A (p.Pro1181Thr)
c.3517C>A (p.Pro1173Thr)
c.3352C>A (p.Pro1118Thr)
1g.16986036G>ACA645512527ATP13A2c.*185C>T (n.*185C>T)
c.3426C>T (p.Ile1142=)
n.1774C>T
c.1146C>T (p.Ile382=)
c.3558C>T (p.Ile1186=)
c.3555C>T (p.Ile1185=)
c.3543C>T (p.Ile1181=)
c.3531C>T (p.Ile1177=)
c.3498C>T (p.Ile1166=)
c.3441C>T (p.Ile1147=)
c.3540C>T (p.Ile1180=)
c.3516C>T (p.Ile1172=)
c.3351C>T (p.Ile1117=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.16986036G>CCA338230493ATP13A2c.*185C>G (n.*185C>G)
c.3426C>G (p.Ile1142Met)
n.1774C>G
c.1146C>G (p.Ile382Met)
c.3558C>G (p.Ile1186Met)
c.3555C>G (p.Ile1185Met)
c.3543C>G (p.Ile1181Met)
c.3531C>G (p.Ile1177Met)
c.3498C>G (p.Ile1166Met)
c.3441C>G (p.Ile1147Met)
c.3540C>G (p.Ile1180Met)
c.3516C>G (p.Ile1172Met)
c.3351C>G (p.Ile1117Met)
1g.16986036G=CA1156048674ATP13A2c.*185C= (n.*185C=)
c.3426C= (p.Ile1142=)
n.1774C=
c.1146C= (p.Ile382=)
c.3558C= (p.Ile1186=)
c.3555C= (p.Ile1185=)
c.3543C= (p.Ile1181=)
c.3531C= (p.Ile1177=)
c.3498C= (p.Ile1166=)
c.3441C= (p.Ile1147=)
c.3540C= (p.Ile1180=)
c.3516C= (p.Ile1172=)
c.3351C= (p.Ile1117=)
1g.16986037A>CCA338230496ATP13A2c.*184T>G (n.*184T>G)
c.3425T>G (p.Ile1142Ser)
n.1773T>G
c.1145T>G (p.Ile382Ser)
c.3557T>G (p.Ile1186Ser)
c.3554T>G (p.Ile1185Ser)
c.3542T>G (p.Ile1181Ser)
c.3530T>G (p.Ile1177Ser)
c.3497T>G (p.Ile1166Ser)
c.3440T>G (p.Ile1147Ser)
c.3539T>G (p.Ile1180Ser)
c.3515T>G (p.Ile1172Ser)
c.3350T>G (p.Ile1117Ser)
1g.16986037A>GCA338230497ATP13A2c.*184T>C (n.*184T>C)
c.3425T>C (p.Ile1142Thr)
n.1773T>C
c.1145T>C (p.Ile382Thr)
c.3557T>C (p.Ile1186Thr)
c.3554T>C (p.Ile1185Thr)
c.3542T>C (p.Ile1181Thr)
c.3530T>C (p.Ile1177Thr)
c.3497T>C (p.Ile1166Thr)
c.3440T>C (p.Ile1147Thr)
c.3539T>C (p.Ile1180Thr)
c.3515T>C (p.Ile1172Thr)
c.3350T>C (p.Ile1117Thr)
1g.16986037A>TCA338230495ATP13A2c.*184T>A (n.*184T>A)
c.3425T>A (p.Ile1142Asn)
n.1773T>A
c.1145T>A (p.Ile382Asn)
c.3557T>A (p.Ile1186Asn)
c.3554T>A (p.Ile1185Asn)
c.3542T>A (p.Ile1181Asn)
c.3530T>A (p.Ile1177Asn)
c.3497T>A (p.Ile1166Asn)
c.3440T>A (p.Ile1147Asn)
c.3539T>A (p.Ile1180Asn)
c.3515T>A (p.Ile1172Asn)
c.3350T>A (p.Ile1117Asn)
1g.16986038T>ACA338230498ATP13A2c.*183A>T (n.*183A>T)
c.3424A>T (p.Ile1142Phe)
n.1772A>T
c.1144A>T (p.Ile382Phe)
c.3556A>T (p.Ile1186Phe)
c.3553A>T (p.Ile1185Phe)
c.3541A>T (p.Ile1181Phe)
c.3529A>T (p.Ile1177Phe)
c.3496A>T (p.Ile1166Phe)
c.3439A>T (p.Ile1147Phe)
c.3538A>T (p.Ile1180Phe)
c.3514A>T (p.Ile1172Phe)
c.3349A>T (p.Ile1117Phe)
1g.16986038T>CCA338230499ATP13A2c.*183A>G (n.*183A>G)
c.3424A>G (p.Ile1142Val)
n.1772A>G
c.1144A>G (p.Ile382Val)
c.3556A>G (p.Ile1186Val)
c.3553A>G (p.Ile1185Val)
c.3541A>G (p.Ile1181Val)
c.3529A>G (p.Ile1177Val)
c.3496A>G (p.Ile1166Val)
c.3439A>G (p.Ile1147Val)
c.3538A>G (p.Ile1180Val)
c.3514A>G (p.Ile1172Val)
c.3349A>G (p.Ile1117Val)
1g.16986038T>GCA338230500ATP13A2c.*183A>C (n.*183A>C)
c.3424A>C (p.Ile1142Leu)
n.1772A>C
c.1144A>C (p.Ile382Leu)
c.3556A>C (p.Ile1186Leu)
c.3553A>C (p.Ile1185Leu)
c.3541A>C (p.Ile1181Leu)
c.3529A>C (p.Ile1177Leu)
c.3496A>C (p.Ile1166Leu)
c.3439A>C (p.Ile1147Leu)
c.3538A>C (p.Ile1180Leu)
c.3514A>C (p.Ile1172Leu)
c.3349A>C (p.Ile1117Leu)
1g.16986039G>ACA18624260ATP13A2c.*182C>T (n.*182C>T)
c.3423C>T (p.Thr1141=)
n.1771C>T
c.1143C>T (p.Thr381=)
c.3555C>T (p.Thr1185=)
c.3552C>T (p.Thr1184=)
c.3540C>T (p.Thr1180=)
c.3528C>T (p.Thr1176=)
c.3495C>T (p.Thr1165=)
c.3438C>T (p.Thr1146=)
c.3537C>T (p.Thr1179=)
c.3513C>T (p.Thr1171=)
c.3348C>T (p.Thr1116=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.16986039G=CA1156048681ATP13A2c.*182C= (n.*182C=)
c.3423C= (p.Thr1141=)
n.1771C=
c.1143C= (p.Thr381=)
c.3555C= (p.Thr1185=)
c.3552C= (p.Thr1184=)
c.3540C= (p.Thr1180=)
c.3528C= (p.Thr1176=)
c.3495C= (p.Thr1165=)
c.3438C= (p.Thr1146=)
c.3537C= (p.Thr1179=)
c.3513C= (p.Thr1171=)
c.3348C= (p.Thr1116=)
1g.16986039G>TCA2643667566ATP13A2c.*182C>A (n.*182C>A)
c.3423C>A (p.Thr1141=)
n.1771C>A
c.1143C>A (p.Thr381=)
c.3555C>A (p.Thr1185=)
c.3552C>A (p.Thr1184=)
c.3540C>A (p.Thr1180=)
c.3528C>A (p.Thr1176=)
c.3495C>A (p.Thr1165=)
c.3438C>A (p.Thr1146=)
c.3537C>A (p.Thr1179=)
c.3513C>A (p.Thr1171=)
c.3348C>A (p.Thr1116=)
 gnomAD v4
1g.16986040G>ACA338230501ATP13A2c.*181C>T (n.*181C>T)
c.3422C>T (p.Thr1141Ile)
n.1770C>T
c.1142C>T (p.Thr381Ile)
c.3554C>T (p.Thr1185Ile)
c.3551C>T (p.Thr1184Ile)
c.3539C>T (p.Thr1180Ile)
c.3527C>T (p.Thr1176Ile)
c.3494C>T (p.Thr1165Ile)
c.3437C>T (p.Thr1146Ile)
c.3536C>T (p.Thr1179Ile)
c.3512C>T (p.Thr1171Ile)
c.3347C>T (p.Thr1116Ile)
1g.16986040G>CCA338230502ATP13A2c.*181C>G (n.*181C>G)
c.3422C>G (p.Thr1141Ser)
n.1770C>G
c.1142C>G (p.Thr381Ser)
c.3554C>G (p.Thr1185Ser)
c.3551C>G (p.Thr1184Ser)
c.3539C>G (p.Thr1180Ser)
c.3527C>G (p.Thr1176Ser)
c.3494C>G (p.Thr1165Ser)
c.3437C>G (p.Thr1146Ser)
c.3536C>G (p.Thr1179Ser)
c.3512C>G (p.Thr1171Ser)
c.3347C>G (p.Thr1116Ser)
1g.16986040G>TCA338230503ATP13A2c.*181C>A (n.*181C>A)
c.3422C>A (p.Thr1141Asn)
n.1770C>A
c.1142C>A (p.Thr381Asn)
c.3554C>A (p.Thr1185Asn)
c.3551C>A (p.Thr1184Asn)
c.3539C>A (p.Thr1180Asn)
c.3527C>A (p.Thr1176Asn)
c.3494C>A (p.Thr1165Asn)
c.3437C>A (p.Thr1146Asn)
c.3536C>A (p.Thr1179Asn)
c.3512C>A (p.Thr1171Asn)
c.3347C>A (p.Thr1116Asn)
 gnomAD v4
1g.16986041T>ACA338230504ATP13A2c.*180A>T (n.*180A>T)
c.3421A>T (p.Thr1141Ser)
n.1769A>T
c.1141A>T (p.Thr381Ser)
c.3553A>T (p.Thr1185Ser)
c.3550A>T (p.Thr1184Ser)
c.3538A>T (p.Thr1180Ser)
c.3526A>T (p.Thr1176Ser)
c.3493A>T (p.Thr1165Ser)
c.3436A>T (p.Thr1146Ser)
c.3535A>T (p.Thr1179Ser)
c.3511A>T (p.Thr1171Ser)
c.3346A>T (p.Thr1116Ser)
1g.16986041T>CCA338230505ATP13A2c.*180A>G (n.*180A>G)
c.3421A>G (p.Thr1141Ala)
n.1769A>G
c.1141A>G (p.Thr381Ala)
c.3553A>G (p.Thr1185Ala)
c.3550A>G (p.Thr1184Ala)
c.3538A>G (p.Thr1180Ala)
c.3526A>G (p.Thr1176Ala)
c.3493A>G (p.Thr1165Ala)
c.3436A>G (p.Thr1146Ala)
c.3535A>G (p.Thr1179Ala)
c.3511A>G (p.Thr1171Ala)
c.3346A>G (p.Thr1116Ala)
 gnomAD v4
1g.16986041T>GCA338230506ATP13A2c.*180A>C (n.*180A>C)
c.3421A>C (p.Thr1141Pro)
n.1769A>C
c.1141A>C (p.Thr381Pro)
c.3553A>C (p.Thr1185Pro)
c.3550A>C (p.Thr1184Pro)
c.3538A>C (p.Thr1180Pro)
c.3526A>C (p.Thr1176Pro)
c.3493A>C (p.Thr1165Pro)
c.3436A>C (p.Thr1146Pro)
c.3535A>C (p.Thr1179Pro)
c.3511A>C (p.Thr1171Pro)
c.3346A>C (p.Thr1116Pro)
1g.16986041_16986042delinsTCCA1156048687ATP13A2c.*179_*180delinsGA (n.*179_*180delinsGA)
c.3420_3421delinsGA (p.Trp1140=)
n.1768_1769delinsGA
c.1140_1141delinsGA (p.Trp380=)
c.3552_3553delinsGA (p.Trp1184=)
c.3549_3550delinsGA (p.Trp1183=)
c.3537_3538delinsGA (p.Trp1179=)
c.3525_3526delinsGA (p.Trp1175=)
c.3492_3493delinsGA (p.Trp1164=)
c.3435_3436delinsGA (p.Trp1145=)
c.3534_3535delinsGA (p.Trp1178=)
c.3510_3511delinsGA (p.Trp1170=)
c.3345_3346delinsGA (p.Trp1115=)
1g.16986042C>ACA338230507ATP13A2c.*179G>T (n.*179G>T)
c.3420G>T (p.Trp1140Cys)
n.1768G>T
c.1140G>T (p.Trp380Cys)
c.3552G>T (p.Trp1184Cys)
c.3549G>T (p.Trp1183Cys)
c.3537G>T (p.Trp1179Cys)
c.3525G>T (p.Trp1175Cys)
c.3492G>T (p.Trp1164Cys)
c.3435G>T (p.Trp1145Cys)
c.3534G>T (p.Trp1178Cys)
c.3510G>T (p.Trp1170Cys)
c.3345G>T (p.Trp1115Cys)
1g.16986042C>GCA338230508ATP13A2c.*179G>C (n.*179G>C)
c.3420G>C (p.Trp1140Cys)
n.1768G>C
c.1140G>C (p.Trp380Cys)
c.3552G>C (p.Trp1184Cys)
c.3549G>C (p.Trp1183Cys)
c.3537G>C (p.Trp1179Cys)
c.3525G>C (p.Trp1175Cys)
c.3492G>C (p.Trp1164Cys)
c.3435G>C (p.Trp1145Cys)
c.3534G>C (p.Trp1178Cys)
c.3510G>C (p.Trp1170Cys)
c.3345G>C (p.Trp1115Cys)
 gnomAD v4
1g.16986042C>TCA338230509ATP13A2c.*179G>A (n.*179G>A)
c.3420G>A (p.Trp1140Ter)
n.1768G>A
c.1140G>A (p.Trp380Ter)
c.3552G>A (p.Trp1184Ter)
c.3549G>A (p.Trp1183Ter)
c.3537G>A (p.Trp1179Ter)
c.3525G>A (p.Trp1175Ter)
c.3492G>A (p.Trp1164Ter)
c.3435G>A (p.Trp1145Ter)
c.3534G>A (p.Trp1178Ter)
c.3510G>A (p.Trp1170Ter)
c.3345G>A (p.Trp1115Ter)
1g.16986043delCA999084888ATP13A2c.*179del (n.*179del)
c.3420del (p.Trp1140Ter)
n.1768del
c.1140del (p.Trp380Ter)
c.3552del (p.Trp1184Ter)
c.3549del (p.Trp1183Ter)
c.3537del (p.Trp1179Ter)
c.3525del (p.Trp1175Ter)
c.3492del (p.Trp1164Ter)
c.3435del (p.Trp1145Ter)
c.3534del (p.Trp1178Ter)
c.3510del (p.Trp1170Ter)
c.3345del (p.Trp1115Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.16986043C>ACA338230514ATP13A2c.*178G>T (n.*178G>T)
c.3419G>T (p.Trp1140Leu)
n.1767G>T
c.1139G>T (p.Trp380Leu)
c.3551G>T (p.Trp1184Leu)
c.3548G>T (p.Trp1183Leu)
c.3536G>T (p.Trp1179Leu)
c.3524G>T (p.Trp1175Leu)
c.3491G>T (p.Trp1164Leu)
c.3434G>T (p.Trp1145Leu)
c.3533G>T (p.Trp1178Leu)
c.3509G>T (p.Trp1170Leu)
c.3344G>T (p.Trp1115Leu)
1g.16986043C=CA1156048692ATP13A2c.*178G= (n.*178G=)
c.3419G= (p.Trp1140=)
n.1767G=
c.1139G= (p.Trp380=)
c.3551G= (p.Trp1184=)
c.3548G= (p.Trp1183=)
c.3536G= (p.Trp1179=)
c.3524G= (p.Trp1175=)
c.3491G= (p.Trp1164=)
c.3434G= (p.Trp1145=)
c.3533G= (p.Trp1178=)
c.3509G= (p.Trp1170=)
c.3344G= (p.Trp1115=)
1g.16986043C>GCA338230512ATP13A2c.*178G>C (n.*178G>C)
c.3419G>C (p.Trp1140Ser)
n.1767G>C
c.1139G>C (p.Trp380Ser)
c.3551G>C (p.Trp1184Ser)
c.3548G>C (p.Trp1183Ser)
c.3536G>C (p.Trp1179Ser)
c.3524G>C (p.Trp1175Ser)
c.3491G>C (p.Trp1164Ser)
c.3434G>C (p.Trp1145Ser)
c.3533G>C (p.Trp1178Ser)
c.3509G>C (p.Trp1170Ser)
c.3344G>C (p.Trp1115Ser)
1g.16986043C>TCA338230511ATP13A2c.*178G>A (n.*178G>A)
c.3419G>A (p.Trp1140Ter)
n.1767G>A
c.1139G>A (p.Trp380Ter)
c.3551G>A (p.Trp1184Ter)
c.3548G>A (p.Trp1183Ter)
c.3536G>A (p.Trp1179Ter)
c.3524G>A (p.Trp1175Ter)
c.3491G>A (p.Trp1164Ter)
c.3434G>A (p.Trp1145Ter)
c.3533G>A (p.Trp1178Ter)
c.3509G>A (p.Trp1170Ter)
c.3344G>A (p.Trp1115Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986044A=CA1156048695ATP13A2c.*177T= (n.*177T=)
c.3418T= (p.Trp1140=)
n.1766T=
c.1138T= (p.Trp380=)
c.3550T= (p.Trp1184=)
c.3547T= (p.Trp1183=)
c.3535T= (p.Trp1179=)
c.3523T= (p.Trp1175=)
c.3490T= (p.Trp1164=)
c.3433T= (p.Trp1145=)
c.3532T= (p.Trp1178=)
c.3508T= (p.Trp1170=)
c.3343T= (p.Trp1115=)
1g.16986044A>CCA338230516ATP13A2c.*177T>G (n.*177T>G)
c.3418T>G (p.Trp1140Gly)
n.1766T>G
c.1138T>G (p.Trp380Gly)
c.3550T>G (p.Trp1184Gly)
c.3547T>G (p.Trp1183Gly)
c.3535T>G (p.Trp1179Gly)
c.3523T>G (p.Trp1175Gly)
c.3490T>G (p.Trp1164Gly)
c.3433T>G (p.Trp1145Gly)
c.3532T>G (p.Trp1178Gly)
c.3508T>G (p.Trp1170Gly)
c.3343T>G (p.Trp1115Gly)
 gnomAD v4
1g.16986044A>GCA338230517ATP13A2c.*177T>C (n.*177T>C)
c.3418T>C (p.Trp1140Arg)
n.1766T>C
c.1138T>C (p.Trp380Arg)
c.3550T>C (p.Trp1184Arg)
c.3547T>C (p.Trp1183Arg)
c.3535T>C (p.Trp1179Arg)
c.3523T>C (p.Trp1175Arg)
c.3490T>C (p.Trp1164Arg)
c.3433T>C (p.Trp1145Arg)
c.3532T>C (p.Trp1178Arg)
c.3508T>C (p.Trp1170Arg)
c.3343T>C (p.Trp1115Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.16986044A>TCA338230518ATP13A2c.*177T>A (n.*177T>A)
c.3418T>A (p.Trp1140Arg)
n.1766T>A
c.1138T>A (p.Trp380Arg)
c.3550T>A (p.Trp1184Arg)
c.3547T>A (p.Trp1183Arg)
c.3535T>A (p.Trp1179Arg)
c.3523T>A (p.Trp1175Arg)
c.3490T>A (p.Trp1164Arg)
c.3433T>A (p.Trp1145Arg)
c.3532T>A (p.Trp1178Arg)
c.3508T>A (p.Trp1170Arg)
c.3343T>A (p.Trp1115Arg)
1g.16986046G>ACA338230520ATP13A2c.*175C>T (n.*175C>T)
c.3416C>T (p.Pro1139Leu)
n.1764C>T
c.1136C>T (p.Pro379Leu)
c.3548C>T (p.Pro1183Leu)
c.3545C>T (p.Pro1182Leu)
c.3533C>T (p.Pro1178Leu)
c.3521C>T (p.Pro1174Leu)
c.3488C>T (p.Pro1163Leu)
c.3431C>T (p.Pro1144Leu)
c.3530C>T (p.Pro1177Leu)
c.3506C>T (p.Pro1169Leu)
c.3341C>T (p.Pro1114Leu)
1g.16986046G>CCA338230521ATP13A2c.*175C>G (n.*175C>G)
c.3416C>G (p.Pro1139Arg)
n.1764C>G
c.1136C>G (p.Pro379Arg)
c.3548C>G (p.Pro1183Arg)
c.3545C>G (p.Pro1182Arg)
c.3533C>G (p.Pro1178Arg)
c.3521C>G (p.Pro1174Arg)
c.3488C>G (p.Pro1163Arg)
c.3431C>G (p.Pro1144Arg)
c.3530C>G (p.Pro1177Arg)
c.3506C>G (p.Pro1169Arg)
c.3341C>G (p.Pro1114Arg)
1g.16986046G>TCA338230522ATP13A2c.*175C>A (n.*175C>A)
c.3416C>A (p.Pro1139His)
n.1764C>A
c.1136C>A (p.Pro379His)
c.3548C>A (p.Pro1183His)
c.3545C>A (p.Pro1182His)
c.3533C>A (p.Pro1178His)
c.3521C>A (p.Pro1174His)
c.3488C>A (p.Pro1163His)
c.3431C>A (p.Pro1144His)
c.3530C>A (p.Pro1177His)
c.3506C>A (p.Pro1169His)
c.3341C>A (p.Pro1114His)
 gnomAD v4
1g.16986047G>ACA338230523ATP13A2c.*174C>T (n.*174C>T)
c.3415C>T (p.Pro1139Ser)
n.1763C>T
c.1135C>T (p.Pro379Ser)
c.3547C>T (p.Pro1183Ser)
c.3544C>T (p.Pro1182Ser)
c.3532C>T (p.Pro1178Ser)
c.3520C>T (p.Pro1174Ser)
c.3487C>T (p.Pro1163Ser)
c.3430C>T (p.Pro1144Ser)
c.3529C>T (p.Pro1177Ser)
c.3505C>T (p.Pro1169Ser)
c.3340C>T (p.Pro1114Ser)
1g.16986047G>CCA338230524ATP13A2c.*174C>G (n.*174C>G)
c.3415C>G (p.Pro1139Ala)
n.1763C>G
c.1135C>G (p.Pro379Ala)
c.3547C>G (p.Pro1183Ala)
c.3544C>G (p.Pro1182Ala)
c.3532C>G (p.Pro1178Ala)
c.3520C>G (p.Pro1174Ala)
c.3487C>G (p.Pro1163Ala)
c.3430C>G (p.Pro1144Ala)
c.3529C>G (p.Pro1177Ala)
c.3505C>G (p.Pro1169Ala)
c.3340C>G (p.Pro1114Ala)
1g.16986047G=CA1156048700ATP13A2c.*174C= (n.*174C=)
c.3415C= (p.Pro1139=)
n.1763C=
c.1135C= (p.Pro379=)
c.3547C= (p.Pro1183=)
c.3544C= (p.Pro1182=)
c.3532C= (p.Pro1178=)
c.3520C= (p.Pro1174=)
c.3487C= (p.Pro1163=)
c.3430C= (p.Pro1144=)
c.3529C= (p.Pro1177=)
c.3505C= (p.Pro1169=)
c.3340C= (p.Pro1114=)
1g.16986047G>TCA338230525ATP13A2c.*174C>A (n.*174C>A)
c.3415C>A (p.Pro1139Thr)
n.1763C>A
c.1135C>A (p.Pro379Thr)
c.3547C>A (p.Pro1183Thr)
c.3544C>A (p.Pro1182Thr)
c.3532C>A (p.Pro1178Thr)
c.3520C>A (p.Pro1174Thr)
c.3487C>A (p.Pro1163Thr)
c.3430C>A (p.Pro1144Thr)
c.3529C>A (p.Pro1177Thr)
c.3505C>A (p.Pro1169Thr)
c.3340C>A (p.Pro1114Thr)
 dbSNP
1g.16986048T>ACA1156048710ATP13A2c.*173A>T (n.*173A>T)
c.3414A>T (p.Leu1138=)
n.1762A>T
c.1134A>T (p.Leu378=)
c.3546A>T (p.Leu1182=)
c.3543A>T (p.Leu1181=)
c.3531A>T (p.Leu1177=)
c.3519A>T (p.Leu1173=)
c.3486A>T (p.Leu1162=)
c.3429A>T (p.Leu1143=)
c.3528A>T (p.Leu1176=)
c.3504A>T (p.Leu1168=)
c.3339A>T (p.Leu1113=)
 dbSNP
1g.16986048T>CCA521027687ATP13A2c.*173A>G (n.*173A>G)
c.3414A>G (p.Leu1138=)
n.1762A>G
c.1134A>G (p.Leu378=)
c.3546A>G (p.Leu1182=)
c.3543A>G (p.Leu1181=)
c.3531A>G (p.Leu1177=)
c.3519A>G (p.Leu1173=)
c.3486A>G (p.Leu1162=)
c.3429A>G (p.Leu1143=)
c.3528A>G (p.Leu1176=)
c.3504A>G (p.Leu1168=)
c.3339A>G (p.Leu1113=)
 dbSNP gnomAD v2 gnomAD v4
1g.16986048T>GCA1156048714ATP13A2c.*173A>C (n.*173A>C)
c.3414A>C (p.Leu1138=)
n.1762A>C
c.1134A>C (p.Leu378=)
c.3546A>C (p.Leu1182=)
c.3543A>C (p.Leu1181=)
c.3531A>C (p.Leu1177=)
c.3519A>C (p.Leu1173=)
c.3486A>C (p.Leu1162=)
c.3429A>C (p.Leu1143=)
c.3528A>C (p.Leu1176=)
c.3504A>C (p.Leu1168=)
c.3339A>C (p.Leu1113=)
 dbSNP
1g.16986048T=CA1156048704ATP13A2c.*173A= (n.*173A=)
c.3414A= (p.Leu1138=)
n.1762A=
c.1134A= (p.Leu378=)
c.3546A= (p.Leu1182=)
c.3543A= (p.Leu1181=)
c.3531A= (p.Leu1177=)
c.3519A= (p.Leu1173=)
c.3486A= (p.Leu1162=)
c.3429A= (p.Leu1143=)
c.3528A= (p.Leu1176=)
c.3504A= (p.Leu1168=)
c.3339A= (p.Leu1113=)
1g.16986049A>CCA338230526ATP13A2c.*172T>G (n.*172T>G)
c.3413T>G (p.Leu1138Arg)
n.1761T>G
c.1133T>G (p.Leu378Arg)
c.3545T>G (p.Leu1182Arg)
c.3542T>G (p.Leu1181Arg)
c.3530T>G (p.Leu1177Arg)
c.3518T>G (p.Leu1173Arg)
c.3485T>G (p.Leu1162Arg)
c.3428T>G (p.Leu1143Arg)
c.3527T>G (p.Leu1176Arg)
c.3503T>G (p.Leu1168Arg)
c.3338T>G (p.Leu1113Arg)
1g.16986049A>GCA338230527ATP13A2c.*172T>C (n.*172T>C)
c.3413T>C (p.Leu1138Pro)
n.1761T>C
c.1133T>C (p.Leu378Pro)
c.3545T>C (p.Leu1182Pro)
c.3542T>C (p.Leu1181Pro)
c.3530T>C (p.Leu1177Pro)
c.3518T>C (p.Leu1173Pro)
c.3485T>C (p.Leu1162Pro)
c.3428T>C (p.Leu1143Pro)
c.3527T>C (p.Leu1176Pro)
c.3503T>C (p.Leu1168Pro)
c.3338T>C (p.Leu1113Pro)
1g.16986049A>TCA338230528ATP13A2c.*172T>A (n.*172T>A)
c.3413T>A (p.Leu1138Gln)
n.1761T>A
c.1133T>A (p.Leu378Gln)
c.3545T>A (p.Leu1182Gln)
c.3542T>A (p.Leu1181Gln)
c.3530T>A (p.Leu1177Gln)
c.3518T>A (p.Leu1173Gln)
c.3485T>A (p.Leu1162Gln)
c.3428T>A (p.Leu1143Gln)
c.3527T>A (p.Leu1176Gln)
c.3503T>A (p.Leu1168Gln)
c.3338T>A (p.Leu1113Gln)
1g.16986050G>CCA338230531ATP13A2c.*171C>G (n.*171C>G)
c.3412C>G (p.Leu1138Val)
n.1760C>G
c.1132C>G (p.Leu378Val)
c.3544C>G (p.Leu1182Val)
c.3541C>G (p.Leu1181Val)
c.3529C>G (p.Leu1177Val)
c.3517C>G (p.Leu1173Val)
c.3484C>G (p.Leu1162Val)
c.3427C>G (p.Leu1143Val)
c.3526C>G (p.Leu1176Val)
c.3502C>G (p.Leu1168Val)
c.3337C>G (p.Leu1113Val)
1g.16986050G>TCA338230532ATP13A2c.*171C>A (n.*171C>A)
c.3412C>A (p.Leu1138Ile)
n.1760C>A
c.1132C>A (p.Leu378Ile)
c.3544C>A (p.Leu1182Ile)
c.3541C>A (p.Leu1181Ile)
c.3529C>A (p.Leu1177Ile)
c.3517C>A (p.Leu1173Ile)
c.3484C>A (p.Leu1162Ile)
c.3427C>A (p.Leu1143Ile)
c.3526C>A (p.Leu1176Ile)
c.3502C>A (p.Leu1168Ile)
c.3337C>A (p.Leu1113Ile)
 gnomAD v4
1g.16986052_16986053delCA2574234588ATP13A2c.*170_*171del (n.*170_*171del)
c.3411_3412del (p.Leu1138ThrfsTer7)
n.1759_1760del
c.1131_1132del (p.Leu378ThrfsTer7)
c.3543_3544del (p.Leu1182ThrfsTer7)
c.3540_3541del (p.Leu1181ThrfsTer7)
c.3528_3529del (p.Leu1177ThrfsTer7)
c.3516_3517del (p.Leu1173ThrfsTer7)
c.3483_3484del (p.Leu1162ThrfsTer7)
c.3426_3427del (p.Leu1143ThrfsTer7)
c.3525_3526del (p.Leu1176ThrfsTer7)
c.3501_3502del (p.Leu1168ThrfsTer7)
c.3336_3337del (p.Leu1113ThrfsTer7)
 gnomAD v4
1g.16986051G>ACA2574234592ATP13A2c.*170C>T (n.*170C>T)
c.3411C>T (p.Pro1137=)
n.1759C>T
c.1131C>T (p.Pro377=)
c.3543C>T (p.Pro1181=)
c.3540C>T (p.Pro1180=)
c.3528C>T (p.Pro1176=)
c.3516C>T (p.Pro1172=)
c.3483C>T (p.Pro1161=)
c.3426C>T (p.Pro1142=)
c.3525C>T (p.Pro1175=)
c.3501C>T (p.Pro1167=)
c.3336C>T (p.Pro1112=)
1g.16986051G>CCA1156048722ATP13A2c.*170C>G (n.*170C>G)
c.3411C>G (p.Pro1137=)
n.1759C>G
c.1131C>G (p.Pro377=)
c.3543C>G (p.Pro1181=)
c.3540C>G (p.Pro1180=)
c.3528C>G (p.Pro1176=)
c.3516C>G (p.Pro1172=)
c.3483C>G (p.Pro1161=)
c.3426C>G (p.Pro1142=)
c.3525C>G (p.Pro1175=)
c.3501C>G (p.Pro1167=)
c.3336C>G (p.Pro1112=)
 dbSNP gnomAD v4
1g.16986051G=CA1156048719ATP13A2c.*170C= (n.*170C=)
c.3411C= (p.Pro1137=)
n.1759C=
c.1131C= (p.Pro377=)
c.3543C= (p.Pro1181=)
c.3540C= (p.Pro1180=)
c.3528C= (p.Pro1176=)
c.3516C= (p.Pro1172=)
c.3483C= (p.Pro1161=)
c.3426C= (p.Pro1142=)
c.3525C= (p.Pro1175=)
c.3501C= (p.Pro1167=)
c.3336C= (p.Pro1112=)
1g.16986052G>ACA338230539ATP13A2c.*169C>T (n.*169C>T)
c.3410C>T (p.Pro1137Leu)
n.1758C>T
c.1130C>T (p.Pro377Leu)
c.3542C>T (p.Pro1181Leu)
c.3539C>T (p.Pro1180Leu)
c.3527C>T (p.Pro1176Leu)
c.3515C>T (p.Pro1172Leu)
c.3482C>T (p.Pro1161Leu)
c.3425C>T (p.Pro1142Leu)
c.3524C>T (p.Pro1175Leu)
c.3500C>T (p.Pro1167Leu)
c.3335C>T (p.Pro1112Leu)
1g.16986052G>CCA338230537ATP13A2c.*169C>G (n.*169C>G)
c.3410C>G (p.Pro1137Arg)
n.1758C>G
c.1130C>G (p.Pro377Arg)
c.3542C>G (p.Pro1181Arg)
c.3539C>G (p.Pro1180Arg)
c.3527C>G (p.Pro1176Arg)
c.3515C>G (p.Pro1172Arg)
c.3482C>G (p.Pro1161Arg)
c.3425C>G (p.Pro1142Arg)
c.3524C>G (p.Pro1175Arg)
c.3500C>G (p.Pro1167Arg)
c.3335C>G (p.Pro1112Arg)
1g.16986052G=CA1156048726ATP13A2c.*169C= (n.*169C=)
c.3410C= (p.Pro1137=)
n.1758C=
c.1130C= (p.Pro377=)
c.3542C= (p.Pro1181=)
c.3539C= (p.Pro1180=)
c.3527C= (p.Pro1176=)
c.3515C= (p.Pro1172=)
c.3482C= (p.Pro1161=)
c.3425C= (p.Pro1142=)
c.3524C= (p.Pro1175=)
c.3500C= (p.Pro1167=)
c.3335C= (p.Pro1112=)
1g.16986052G>TCA338230536ATP13A2c.*169C>A (n.*169C>A)
c.3410C>A (p.Pro1137His)
n.1758C>A
c.1130C>A (p.Pro377His)
c.3542C>A (p.Pro1181His)
c.3539C>A (p.Pro1180His)
c.3527C>A (p.Pro1176His)
c.3515C>A (p.Pro1172His)
c.3482C>A (p.Pro1161His)
c.3425C>A (p.Pro1142His)
c.3524C>A (p.Pro1175His)
c.3500C>A (p.Pro1167His)
c.3335C>A (p.Pro1112His)
1g.16986052_16986053insTTCA1156048730ATP13A2c.*168_*169insAA (n.*168_*169insAA)
c.3409_3410insAA (p.Pro1137GlnfsTer26)
n.1757_1758insAA
c.1129_1130insAA (p.Pro377GlnfsTer?)
c.3541_3542insAA (p.Pro1181GlnfsTer26)
c.3538_3539insAA (p.Pro1180GlnfsTer26)
c.3526_3527insAA (p.Pro1176GlnfsTer26)
c.3514_3515insAA (p.Pro1172GlnfsTer26)
c.3481_3482insAA (p.Pro1161GlnfsTer26)
c.3424_3425insAA (p.Pro1142GlnfsTer26)
c.3523_3524insAA (p.Pro1175GlnfsTer26)
c.3499_3500insAA (p.Pro1167GlnfsTer26)
c.3334_3335insAA (p.Pro1112GlnfsTer26)
 dbSNP
1g.16986053G>ACA338230541ATP13A2c.*168C>T (n.*168C>T)
c.3409C>T (p.Pro1137Ser)
n.1757C>T
c.1129C>T (p.Pro377Ser)
c.3541C>T (p.Pro1181Ser)
c.3538C>T (p.Pro1180Ser)
c.3526C>T (p.Pro1176Ser)
c.3514C>T (p.Pro1172Ser)
c.3481C>T (p.Pro1161Ser)
c.3424C>T (p.Pro1142Ser)
c.3523C>T (p.Pro1175Ser)
c.3499C>T (p.Pro1167Ser)
c.3334C>T (p.Pro1112Ser)
1g.16986053G>CCA338230543ATP13A2c.*168C>G (n.*168C>G)
c.3409C>G (p.Pro1137Ala)
n.1757C>G
c.1129C>G (p.Pro377Ala)
c.3541C>G (p.Pro1181Ala)
c.3538C>G (p.Pro1180Ala)
c.3526C>G (p.Pro1176Ala)
c.3514C>G (p.Pro1172Ala)
c.3481C>G (p.Pro1161Ala)
c.3424C>G (p.Pro1142Ala)
c.3523C>G (p.Pro1175Ala)
c.3499C>G (p.Pro1167Ala)
c.3334C>G (p.Pro1112Ala)
 gnomAD v4
1g.16986053G>TCA338230544ATP13A2c.*168C>A (n.*168C>A)
c.3409C>A (p.Pro1137Thr)
n.1757C>A
c.1129C>A (p.Pro377Thr)
c.3541C>A (p.Pro1181Thr)
c.3538C>A (p.Pro1180Thr)
c.3526C>A (p.Pro1176Thr)
c.3514C>A (p.Pro1172Thr)
c.3481C>A (p.Pro1161Thr)
c.3424C>A (p.Pro1142Thr)
c.3523C>A (p.Pro1175Thr)
c.3499C>A (p.Pro1167Thr)
c.3334C>A (p.Pro1112Thr)
 gnomAD v4
1g.16986054A>CCA338230545ATP13A2c.*167T>G (n.*167T>G)
c.3408T>G (p.Cys1136Trp)
n.1756T>G
c.1128T>G (p.Cys376Trp)
c.3540T>G (p.Cys1180Trp)
c.3537T>G (p.Cys1179Trp)
c.3525T>G (p.Cys1175Trp)
c.3513T>G (p.Cys1171Trp)
c.3480T>G (p.Cys1160Trp)
c.3423T>G (p.Cys1141Trp)
c.3522T>G (p.Cys1174Trp)
c.3498T>G (p.Cys1166Trp)
c.3333T>G (p.Cys1111Trp)
1g.16986054A>TCA338230547ATP13A2c.*167T>A (n.*167T>A)
c.3408T>A (p.Cys1136Ter)
n.1756T>A
c.1128T>A (p.Cys376Ter)
c.3540T>A (p.Cys1180Ter)
c.3537T>A (p.Cys1179Ter)
c.3525T>A (p.Cys1175Ter)
c.3513T>A (p.Cys1171Ter)
c.3480T>A (p.Cys1160Ter)
c.3423T>A (p.Cys1141Ter)
c.3522T>A (p.Cys1174Ter)
c.3498T>A (p.Cys1166Ter)
c.3333T>A (p.Cys1111Ter)
1g.16986055C>ACA338230549ATP13A2c.*166G>T (n.*166G>T)
c.3407G>T (p.Cys1136Phe)
n.1755G>T
c.1127G>T (p.Cys376Phe)
c.3539G>T (p.Cys1180Phe)
c.3536G>T (p.Cys1179Phe)
c.3524G>T (p.Cys1175Phe)
c.3512G>T (p.Cys1171Phe)
c.3479G>T (p.Cys1160Phe)
c.3422G>T (p.Cys1141Phe)
c.3521G>T (p.Cys1174Phe)
c.3497G>T (p.Cys1166Phe)
c.3332G>T (p.Cys1111Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986055C=CA1156048735ATP13A2c.*166G= (n.*166G=)
c.3407G= (p.Cys1136=)
n.1755G=
c.1127G= (p.Cys376=)
c.3539G= (p.Cys1180=)
c.3536G= (p.Cys1179=)
c.3524G= (p.Cys1175=)
c.3512G= (p.Cys1171=)
c.3479G= (p.Cys1160=)
c.3422G= (p.Cys1141=)
c.3521G= (p.Cys1174=)
c.3497G= (p.Cys1166=)
c.3332G= (p.Cys1111=)
1g.16986055C>GCA338230550ATP13A2c.*166G>C (n.*166G>C)
c.3407G>C (p.Cys1136Ser)
n.1755G>C
c.1127G>C (p.Cys376Ser)
c.3539G>C (p.Cys1180Ser)
c.3536G>C (p.Cys1179Ser)
c.3524G>C (p.Cys1175Ser)
c.3512G>C (p.Cys1171Ser)
c.3479G>C (p.Cys1160Ser)
c.3422G>C (p.Cys1141Ser)
c.3521G>C (p.Cys1174Ser)
c.3497G>C (p.Cys1166Ser)
c.3332G>C (p.Cys1111Ser)
1g.16986055C>TCA338230551ATP13A2c.*166G>A (n.*166G>A)
c.3407G>A (p.Cys1136Tyr)
n.1755G>A
c.1127G>A (p.Cys376Tyr)
c.3539G>A (p.Cys1180Tyr)
c.3536G>A (p.Cys1179Tyr)
c.3524G>A (p.Cys1175Tyr)
c.3512G>A (p.Cys1171Tyr)
c.3479G>A (p.Cys1160Tyr)
c.3422G>A (p.Cys1141Tyr)
c.3521G>A (p.Cys1174Tyr)
c.3497G>A (p.Cys1166Tyr)
c.3332G>A (p.Cys1111Tyr)
1g.16986055_16986057delinsCAGCA1156048733ATP13A2c.*164_*166delinsCTG (n.*164_*166delinsCTG)
c.3405_3407delinsCTG (p.Tyr1135=)
n.1753_1755delinsCTG
c.1125_1127delinsCTG (p.Tyr375=)
c.3537_3539delinsCTG (p.Tyr1179=)
c.3534_3536delinsCTG (p.Tyr1178=)
c.3522_3524delinsCTG (p.Tyr1174=)
c.3510_3512delinsCTG (p.Tyr1170=)
c.3477_3479delinsCTG (p.Tyr1159=)
c.3420_3422delinsCTG (p.Tyr1140=)
c.3519_3521delinsCTG (p.Tyr1173=)
c.3495_3497delinsCTG (p.Tyr1165=)
c.3330_3332delinsCTG (p.Tyr1110=)
1g.16986056A=CA1156048739ATP13A2c.*165T= (n.*165T=)
c.3406T= (p.Cys1136=)
n.1754T=
c.1126T= (p.Cys376=)
c.3538T= (p.Cys1180=)
c.3535T= (p.Cys1179=)
c.3523T= (p.Cys1175=)
c.3511T= (p.Cys1171=)
c.3478T= (p.Cys1160=)
c.3421T= (p.Cys1141=)
c.3520T= (p.Cys1174=)
c.3496T= (p.Cys1166=)
c.3331T= (p.Cys1111=)
1g.16986056A>CCA338230552ATP13A2c.*165T>G (n.*165T>G)
c.3406T>G (p.Cys1136Gly)
n.1754T>G
c.1126T>G (p.Cys376Gly)
c.3538T>G (p.Cys1180Gly)
c.3535T>G (p.Cys1179Gly)
c.3523T>G (p.Cys1175Gly)
c.3511T>G (p.Cys1171Gly)
c.3478T>G (p.Cys1160Gly)
c.3421T>G (p.Cys1141Gly)
c.3520T>G (p.Cys1174Gly)
c.3496T>G (p.Cys1166Gly)
c.3331T>G (p.Cys1111Gly)
1g.16986056A>GCA338230553ATP13A2c.*165T>C (n.*165T>C)
c.3406T>C (p.Cys1136Arg)
n.1754T>C
c.1126T>C (p.Cys376Arg)
c.3538T>C (p.Cys1180Arg)
c.3535T>C (p.Cys1179Arg)
c.3523T>C (p.Cys1175Arg)
c.3511T>C (p.Cys1171Arg)
c.3478T>C (p.Cys1160Arg)
c.3421T>C (p.Cys1141Arg)
c.3520T>C (p.Cys1174Arg)
c.3496T>C (p.Cys1166Arg)
c.3331T>C (p.Cys1111Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.16986056A>TCA338230554ATP13A2c.*165T>A (n.*165T>A)
c.3406T>A (p.Cys1136Ser)
n.1754T>A
c.1126T>A (p.Cys376Ser)
c.3538T>A (p.Cys1180Ser)
c.3535T>A (p.Cys1179Ser)
c.3523T>A (p.Cys1175Ser)
c.3511T>A (p.Cys1171Ser)
c.3478T>A (p.Cys1160Ser)
c.3421T>A (p.Cys1141Ser)
c.3520T>A (p.Cys1174Ser)
c.3496T>A (p.Cys1166Ser)
c.3331T>A (p.Cys1111Ser)
1g.16986056_16986057delCA1156048738ATP13A2c.*164_*165del (n.*164_*165del)
c.3405_3406del (p.Tyr1135Ter)
n.1753_1754del
c.1125_1126del (p.Tyr375Ter)
c.3537_3538del (p.Tyr1179Ter)
c.3534_3535del (p.Tyr1178Ter)
c.3522_3523del (p.Tyr1174Ter)
c.3510_3511del (p.Tyr1170Ter)
c.3477_3478del (p.Tyr1159Ter)
c.3420_3421del (p.Tyr1140Ter)
c.3519_3520del (p.Tyr1173Ter)
c.3495_3496del (p.Tyr1165Ter)
c.3330_3331del (p.Tyr1110Ter)
 dbSNP
1g.16986057G>CCA338230556ATP13A2c.*164C>G (n.*164C>G)
c.3405C>G (p.Tyr1135Ter)
n.1753C>G
c.1125C>G (p.Tyr375Ter)
c.3537C>G (p.Tyr1179Ter)
c.3534C>G (p.Tyr1178Ter)
c.3522C>G (p.Tyr1174Ter)
c.3510C>G (p.Tyr1170Ter)
c.3477C>G (p.Tyr1159Ter)
c.3420C>G (p.Tyr1140Ter)
c.3519C>G (p.Tyr1173Ter)
c.3495C>G (p.Tyr1165Ter)
c.3330C>G (p.Tyr1110Ter)
1g.16986057G>TCA338230558ATP13A2c.*164C>A (n.*164C>A)
c.3405C>A (p.Tyr1135Ter)
n.1753C>A
c.1125C>A (p.Tyr375Ter)
c.3537C>A (p.Tyr1179Ter)
c.3534C>A (p.Tyr1178Ter)
c.3522C>A (p.Tyr1174Ter)
c.3510C>A (p.Tyr1170Ter)
c.3477C>A (p.Tyr1159Ter)
c.3420C>A (p.Tyr1140Ter)
c.3519C>A (p.Tyr1173Ter)
c.3495C>A (p.Tyr1165Ter)
c.3330C>A (p.Tyr1110Ter)
1g.16986058T>ACA338230566ATP13A2c.*163A>T (n.*163A>T)
c.3404A>T (p.Tyr1135Phe)
n.1752A>T
c.1124A>T (p.Tyr375Phe)
c.3536A>T (p.Tyr1179Phe)
c.3533A>T (p.Tyr1178Phe)
c.3521A>T (p.Tyr1174Phe)
c.3509A>T (p.Tyr1170Phe)
c.3476A>T (p.Tyr1159Phe)
c.3419A>T (p.Tyr1140Phe)
c.3518A>T (p.Tyr1173Phe)
c.3494A>T (p.Tyr1165Phe)
c.3329A>T (p.Tyr1110Phe)
1g.16986058T>CCA338230564ATP13A2c.*163A>G (n.*163A>G)
c.3404A>G (p.Tyr1135Cys)
n.1752A>G
c.1124A>G (p.Tyr375Cys)
c.3536A>G (p.Tyr1179Cys)
c.3533A>G (p.Tyr1178Cys)
c.3521A>G (p.Tyr1174Cys)
c.3509A>G (p.Tyr1170Cys)
c.3476A>G (p.Tyr1159Cys)
c.3419A>G (p.Tyr1140Cys)
c.3518A>G (p.Tyr1173Cys)
c.3494A>G (p.Tyr1165Cys)
c.3329A>G (p.Tyr1110Cys)
 gnomAD v4
1g.16986058T>GCA338230560ATP13A2c.*163A>C (n.*163A>C)
c.3404A>C (p.Tyr1135Ser)
n.1752A>C
c.1124A>C (p.Tyr375Ser)
c.3536A>C (p.Tyr1179Ser)
c.3533A>C (p.Tyr1178Ser)
c.3521A>C (p.Tyr1174Ser)
c.3509A>C (p.Tyr1170Ser)
c.3476A>C (p.Tyr1159Ser)
c.3419A>C (p.Tyr1140Ser)
c.3518A>C (p.Tyr1173Ser)
c.3494A>C (p.Tyr1165Ser)
c.3329A>C (p.Tyr1110Ser)
1g.16986059A=CA1156048742ATP13A2c.*162T= (n.*162T=)
c.3403T= (p.Tyr1135=)
n.1751T=
c.1123T= (p.Tyr375=)
c.3535T= (p.Tyr1179=)
c.3532T= (p.Tyr1178=)
c.3520T= (p.Tyr1174=)
c.3508T= (p.Tyr1170=)
c.3475T= (p.Tyr1159=)
c.3418T= (p.Tyr1140=)
c.3517T= (p.Tyr1173=)
c.3493T= (p.Tyr1165=)
c.3328T= (p.Tyr1110=)
1g.16986059A>CCA338230568ATP13A2c.*162T>G (n.*162T>G)
c.3403T>G (p.Tyr1135Asp)
n.1751T>G
c.1123T>G (p.Tyr375Asp)
c.3535T>G (p.Tyr1179Asp)
c.3532T>G (p.Tyr1178Asp)
c.3520T>G (p.Tyr1174Asp)
c.3508T>G (p.Tyr1170Asp)
c.3475T>G (p.Tyr1159Asp)
c.3418T>G (p.Tyr1140Asp)
c.3517T>G (p.Tyr1173Asp)
c.3493T>G (p.Tyr1165Asp)
c.3328T>G (p.Tyr1110Asp)
1g.16986059A>GCA338230573ATP13A2c.*162T>C (n.*162T>C)
c.3403T>C (p.Tyr1135His)
n.1751T>C
c.1123T>C (p.Tyr375His)
c.3535T>C (p.Tyr1179His)
c.3532T>C (p.Tyr1178His)
c.3520T>C (p.Tyr1174His)
c.3508T>C (p.Tyr1170His)
c.3475T>C (p.Tyr1159His)
c.3418T>C (p.Tyr1140His)
c.3517T>C (p.Tyr1173His)
c.3493T>C (p.Tyr1165His)
c.3328T>C (p.Tyr1110His)
1g.16986059A>TCA338230574ATP13A2c.*162T>A (n.*162T>A)
c.3403T>A (p.Tyr1135Asn)
n.1751T>A
c.1123T>A (p.Tyr375Asn)
c.3535T>A (p.Tyr1179Asn)
c.3532T>A (p.Tyr1178Asn)
c.3520T>A (p.Tyr1174Asn)
c.3508T>A (p.Tyr1170Asn)
c.3475T>A (p.Tyr1159Asn)
c.3418T>A (p.Tyr1140Asn)
c.3517T>A (p.Tyr1173Asn)
c.3493T>A (p.Tyr1165Asn)
c.3328T>A (p.Tyr1110Asn)
1g.16986059_16986060insCTCA1156048745ATP13A2c.*161_*162insAG (n.*161_*162insAG)
c.3402_3403insAG (p.Tyr1135SerfsTer28)
n.1750_1751insAG
c.1122_1123insAG (p.Tyr375SerfsTer?)
c.3534_3535insAG (p.Tyr1179SerfsTer28)
c.3531_3532insAG (p.Tyr1178SerfsTer28)
c.3519_3520insAG (p.Tyr1174SerfsTer28)
c.3507_3508insAG (p.Tyr1170SerfsTer28)
c.3474_3475insAG (p.Tyr1159SerfsTer28)
c.3417_3418insAG (p.Tyr1140SerfsTer28)
c.3516_3517insAG (p.Tyr1173SerfsTer28)
c.3492_3493insAG (p.Tyr1165SerfsTer28)
c.3327_3328insAG (p.Tyr1110SerfsTer28)
 dbSNP
1g.16986060G>CCA338230576ATP13A2c.*161C>G (n.*161C>G)
c.3402C>G (p.Asp1134Glu)
n.1750C>G
c.1122C>G (p.Asp374Glu)
c.3534C>G (p.Asp1178Glu)
c.3531C>G (p.Asp1177Glu)
c.3519C>G (p.Asp1173Glu)
c.3507C>G (p.Asp1169Glu)
c.3474C>G (p.Asp1158Glu)
c.3417C>G (p.Asp1139Glu)
c.3516C>G (p.Asp1172Glu)
c.3492C>G (p.Asp1164Glu)
c.3327C>G (p.Asp1109Glu)
1g.16986060G>TCA338230580ATP13A2c.*161C>A (n.*161C>A)
c.3402C>A (p.Asp1134Glu)
n.1750C>A
c.1122C>A (p.Asp374Glu)
c.3534C>A (p.Asp1178Glu)
c.3531C>A (p.Asp1177Glu)
c.3519C>A (p.Asp1173Glu)
c.3507C>A (p.Asp1169Glu)
c.3474C>A (p.Asp1158Glu)
c.3417C>A (p.Asp1139Glu)
c.3516C>A (p.Asp1172Glu)
c.3492C>A (p.Asp1164Glu)
c.3327C>A (p.Asp1109Glu)
1g.16986061T>ACA338230581ATP13A2c.*160A>T (n.*160A>T)
c.3401A>T (p.Asp1134Val)
n.1749A>T
c.1121A>T (p.Asp374Val)
c.3533A>T (p.Asp1178Val)
c.3530A>T (p.Asp1177Val)
c.3518A>T (p.Asp1173Val)
c.3506A>T (p.Asp1169Val)
c.3473A>T (p.Asp1158Val)
c.3416A>T (p.Asp1139Val)
c.3515A>T (p.Asp1172Val)
c.3491A>T (p.Asp1164Val)
c.3326A>T (p.Asp1109Val)
1g.16986061T>CCA338230588ATP13A2c.*160A>G (n.*160A>G)
c.3401A>G (p.Asp1134Gly)
n.1749A>G
c.1121A>G (p.Asp374Gly)
c.3533A>G (p.Asp1178Gly)
c.3530A>G (p.Asp1177Gly)
c.3518A>G (p.Asp1173Gly)
c.3506A>G (p.Asp1169Gly)
c.3473A>G (p.Asp1158Gly)
c.3416A>G (p.Asp1139Gly)
c.3515A>G (p.Asp1172Gly)
c.3491A>G (p.Asp1164Gly)
c.3326A>G (p.Asp1109Gly)
 gnomAD v4
1g.16986061T>GCA338230590ATP13A2c.*160A>C (n.*160A>C)
c.3401A>C (p.Asp1134Ala)
n.1749A>C
c.1121A>C (p.Asp374Ala)
c.3533A>C (p.Asp1178Ala)
c.3530A>C (p.Asp1177Ala)
c.3518A>C (p.Asp1173Ala)
c.3506A>C (p.Asp1169Ala)
c.3473A>C (p.Asp1158Ala)
c.3416A>C (p.Asp1139Ala)
c.3515A>C (p.Asp1172Ala)
c.3491A>C (p.Asp1164Ala)
c.3326A>C (p.Asp1109Ala)
1g.16986062C>ACA338230598ATP13A2c.*159G>T (n.*159G>T)
c.3400G>T (p.Asp1134Tyr)
n.1748G>T
c.1120G>T (p.Asp374Tyr)
c.3532G>T (p.Asp1178Tyr)
c.3529G>T (p.Asp1177Tyr)
c.3517G>T (p.Asp1173Tyr)
c.3505G>T (p.Asp1169Tyr)
c.3472G>T (p.Asp1158Tyr)
c.3415G>T (p.Asp1139Tyr)
c.3514G>T (p.Asp1172Tyr)
c.3490G>T (p.Asp1164Tyr)
c.3325G>T (p.Asp1109Tyr)
 gnomAD v4
1g.16986062C=CA1156048751ATP13A2c.*159G= (n.*159G=)
c.3400G= (p.Asp1134=)
n.1748G=
c.1120G= (p.Asp374=)
c.3532G= (p.Asp1178=)
c.3529G= (p.Asp1177=)
c.3517G= (p.Asp1173=)
c.3505G= (p.Asp1169=)
c.3472G= (p.Asp1158=)
c.3415G= (p.Asp1139=)
c.3514G= (p.Asp1172=)
c.3490G= (p.Asp1164=)
c.3325G= (p.Asp1109=)
1g.16986062C>GCA18624266ATP13A2c.*159G>C (n.*159G>C)
c.3400G>C (p.Asp1134His)
n.1748G>C
c.1120G>C (p.Asp374His)
c.3532G>C (p.Asp1178His)
c.3529G>C (p.Asp1177His)
c.3517G>C (p.Asp1173His)
c.3505G>C (p.Asp1169His)
c.3472G>C (p.Asp1158His)
c.3415G>C (p.Asp1139His)
c.3514G>C (p.Asp1172His)
c.3490G>C (p.Asp1164His)
c.3325G>C (p.Asp1109His)
 dbSNP
1g.16986062C>TCA338230601ATP13A2c.*159G>A (n.*159G>A)
c.3400G>A (p.Asp1134Asn)
n.1748G>A
c.1120G>A (p.Asp374Asn)
c.3532G>A (p.Asp1178Asn)
c.3529G>A (p.Asp1177Asn)
c.3517G>A (p.Asp1173Asn)
c.3505G>A (p.Asp1169Asn)
c.3472G>A (p.Asp1158Asn)
c.3415G>A (p.Asp1139Asn)
c.3514G>A (p.Asp1172Asn)
c.3490G>A (p.Asp1164Asn)
c.3325G>A (p.Asp1109Asn)
1g.16986062_16986064delinsCAACA1156048753ATP13A2c.*157_*159delinsTTG (n.*157_*159delinsTTG)
c.3398_3400delinsTTG (p.Val1133=)
n.1746_1748delinsTTG
c.1118_1120delinsTTG (p.Val373=)
c.3530_3532delinsTTG (p.Val1177=)
c.3527_3529delinsTTG (p.Val1176=)
c.3515_3517delinsTTG (p.Val1172=)
c.3503_3505delinsTTG (p.Val1168=)
c.3470_3472delinsTTG (p.Val1157=)
c.3413_3415delinsTTG (p.Val1138=)
c.3512_3514delinsTTG (p.Val1171=)
c.3488_3490delinsTTG (p.Val1163=)
c.3323_3325delinsTTG (p.Val1108=)
1g.16986063A=CA1142779322ATP13A2c.*158T= (n.*158T=)
c.3399T= (p.Val1133=)
n.1747T=
c.1119T= (p.Val373=)
c.3531T= (p.Val1177=)
c.3528T= (p.Val1176=)
c.3516T= (p.Val1172=)
c.3504T= (p.Val1168=)
c.3471T= (p.Val1157=)
c.3414T= (p.Val1138=)
c.3513T= (p.Val1171=)
c.3489T= (p.Val1163=)
c.3324T= (p.Val1108=)
1g.16986063A>CCA636413ATP13A2c.*158T>G (n.*158T>G)
c.3399T>G (p.Val1133=)
n.1747T>G
c.1119T>G (p.Val373=)
c.3531T>G (p.Val1177=)
c.3528T>G (p.Val1176=)
c.3516T>G (p.Val1172=)
c.3504T>G (p.Val1168=)
c.3471T>G (p.Val1157=)
c.3414T>G (p.Val1138=)
c.3513T>G (p.Val1171=)
c.3489T>G (p.Val1163=)
c.3324T>G (p.Val1108=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986063A>GCA636412ATP13A2c.*158T>C (n.*158T>C)
c.3399T>C (p.Val1133=)
n.1747T>C
c.1119T>C (p.Val373=)
c.3531T>C (p.Val1177=)
c.3528T>C (p.Val1176=)
c.3516T>C (p.Val1172=)
c.3504T>C (p.Val1168=)
c.3471T>C (p.Val1157=)
c.3414T>C (p.Val1138=)
c.3513T>C (p.Val1171=)
c.3489T>C (p.Val1163=)
c.3324T>C (p.Val1108=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986063_16986064delCA1156048759ATP13A2c.*157_*158del (n.*157_*158del)
c.3398_3399del (p.Val1133GlyfsTer12)
n.1746_1747del
c.1118_1119del (p.Val373GlyfsTer12)
c.3530_3531del (p.Val1177GlyfsTer12)
c.3527_3528del (p.Val1176GlyfsTer12)
c.3515_3516del (p.Val1172GlyfsTer12)
c.3503_3504del (p.Val1168GlyfsTer12)
c.3470_3471del (p.Val1157GlyfsTer12)
c.3413_3414del (p.Val1138GlyfsTer12)
c.3512_3513del (p.Val1171GlyfsTer12)
c.3488_3489del (p.Val1163GlyfsTer12)
c.3323_3324del (p.Val1108GlyfsTer12)
 dbSNP
1g.16986064A>CCA338230608ATP13A2c.*157T>G (n.*157T>G)
c.3398T>G (p.Val1133Gly)
n.1746T>G
c.1118T>G (p.Val373Gly)
c.3530T>G (p.Val1177Gly)
c.3527T>G (p.Val1176Gly)
c.3515T>G (p.Val1172Gly)
c.3503T>G (p.Val1168Gly)
c.3470T>G (p.Val1157Gly)
c.3413T>G (p.Val1138Gly)
c.3512T>G (p.Val1171Gly)
c.3488T>G (p.Val1163Gly)
c.3323T>G (p.Val1108Gly)
1g.16986064A>GCA338230610ATP13A2c.*157T>C (n.*157T>C)
c.3398T>C (p.Val1133Ala)
n.1746T>C
c.1118T>C (p.Val373Ala)
c.3530T>C (p.Val1177Ala)
c.3527T>C (p.Val1176Ala)
c.3515T>C (p.Val1172Ala)
c.3503T>C (p.Val1168Ala)
c.3470T>C (p.Val1157Ala)
c.3413T>C (p.Val1138Ala)
c.3512T>C (p.Val1171Ala)
c.3488T>C (p.Val1163Ala)
c.3323T>C (p.Val1108Ala)
1g.16986064A>TCA338230607ATP13A2c.*157T>A (n.*157T>A)
c.3398T>A (p.Val1133Asp)
n.1746T>A
c.1118T>A (p.Val373Asp)
c.3530T>A (p.Val1177Asp)
c.3527T>A (p.Val1176Asp)
c.3515T>A (p.Val1172Asp)
c.3503T>A (p.Val1168Asp)
c.3470T>A (p.Val1157Asp)
c.3413T>A (p.Val1138Asp)
c.3512T>A (p.Val1171Asp)
c.3488T>A (p.Val1163Asp)
c.3323T>A (p.Val1108Asp)
1g.16986065C>ACA338230612ATP13A2c.*156G>T (n.*156G>T)
c.3397G>T (p.Val1133Phe)
n.1745G>T
c.1117G>T (p.Val373Phe)
c.3529G>T (p.Val1177Phe)
c.3526G>T (p.Val1176Phe)
c.3514G>T (p.Val1172Phe)
c.3502G>T (p.Val1168Phe)
c.3469G>T (p.Val1157Phe)
c.3412G>T (p.Val1138Phe)
c.3511G>T (p.Val1171Phe)
c.3487G>T (p.Val1163Phe)
c.3322G>T (p.Val1108Phe)
1g.16986065C=CA1145379443ATP13A2c.*156G= (n.*156G=)
c.3397G= (p.Val1133=)
n.1745G=
c.1117G= (p.Val373=)
c.3529G= (p.Val1177=)
c.3526G= (p.Val1176=)
c.3514G= (p.Val1172=)
c.3502G= (p.Val1168=)
c.3469G= (p.Val1157=)
c.3412G= (p.Val1138=)
c.3511G= (p.Val1171=)
c.3487G= (p.Val1163=)
c.3322G= (p.Val1108=)
1g.16986065C>GCA338230613ATP13A2c.*156G>C (n.*156G>C)
c.3397G>C (p.Val1133Leu)
n.1745G>C
c.1117G>C (p.Val373Leu)
c.3529G>C (p.Val1177Leu)
c.3526G>C (p.Val1176Leu)
c.3514G>C (p.Val1172Leu)
c.3502G>C (p.Val1168Leu)
c.3469G>C (p.Val1157Leu)
c.3412G>C (p.Val1138Leu)
c.3511G>C (p.Val1171Leu)
c.3487G>C (p.Val1163Leu)
c.3322G>C (p.Val1108Leu)
1g.16986065C>TCA636414ATP13A2c.*156G>A (n.*156G>A)
c.3397G>A (p.Val1133Ile)
n.1745G>A
c.1117G>A (p.Val373Ile)
c.3529G>A (p.Val1177Ile)
c.3526G>A (p.Val1176Ile)
c.3514G>A (p.Val1172Ile)
c.3502G>A (p.Val1168Ile)
c.3469G>A (p.Val1157Ile)
c.3412G>A (p.Val1138Ile)
c.3511G>A (p.Val1171Ile)
c.3487G>A (p.Val1163Ile)
c.3322G>A (p.Val1108Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986066G>ACA636415ATP13A2c.*155C>T (n.*155C>T)
c.3396C>T (p.Ser1132=)
n.1744C>T
c.1116C>T (p.Ser372=)
c.3528C>T (p.Ser1176=)
c.3525C>T (p.Ser1175=)
c.3513C>T (p.Ser1171=)
c.3501C>T (p.Ser1167=)
c.3468C>T (p.Ser1156=)
c.3411C>T (p.Ser1137=)
c.3510C>T (p.Ser1170=)
c.3486C>T (p.Ser1162=)
c.3321C>T (p.Ser1107=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986066G>CCA338230615ATP13A2c.*155C>G (n.*155C>G)
c.3396C>G (p.Ser1132Arg)
n.1744C>G
c.1116C>G (p.Ser372Arg)
c.3528C>G (p.Ser1176Arg)
c.3525C>G (p.Ser1175Arg)
c.3513C>G (p.Ser1171Arg)
c.3501C>G (p.Ser1167Arg)
c.3468C>G (p.Ser1156Arg)
c.3411C>G (p.Ser1137Arg)
c.3510C>G (p.Ser1170Arg)
c.3486C>G (p.Ser1162Arg)
c.3321C>G (p.Ser1107Arg)
1g.16986066G=CA1156048766ATP13A2c.*155C= (n.*155C=)
c.3396C= (p.Ser1132=)
n.1744C=
c.1116C= (p.Ser372=)
c.3528C= (p.Ser1176=)
c.3525C= (p.Ser1175=)
c.3513C= (p.Ser1171=)
c.3501C= (p.Ser1167=)
c.3468C= (p.Ser1156=)
c.3411C= (p.Ser1137=)
c.3510C= (p.Ser1170=)
c.3486C= (p.Ser1162=)
c.3321C= (p.Ser1107=)
1g.16986066G>TCA338230618ATP13A2c.*155C>A (n.*155C>A)
c.3396C>A (p.Ser1132Arg)
n.1744C>A
c.1116C>A (p.Ser372Arg)
c.3528C>A (p.Ser1176Arg)
c.3525C>A (p.Ser1175Arg)
c.3513C>A (p.Ser1171Arg)
c.3501C>A (p.Ser1167Arg)
c.3468C>A (p.Ser1156Arg)
c.3411C>A (p.Ser1137Arg)
c.3510C>A (p.Ser1170Arg)
c.3486C>A (p.Ser1162Arg)
c.3321C>A (p.Ser1107Arg)
 gnomAD v4
1g.16986067C>ACA338230620ATP13A2c.*154G>T (n.*154G>T)
c.3395G>T (p.Ser1132Ile)
n.1743G>T
c.1115G>T (p.Ser372Ile)
c.3527G>T (p.Ser1176Ile)
c.3524G>T (p.Ser1175Ile)
c.3512G>T (p.Ser1171Ile)
c.3500G>T (p.Ser1167Ile)
c.3467G>T (p.Ser1156Ile)
c.3410G>T (p.Ser1137Ile)
c.3509G>T (p.Ser1170Ile)
c.3485G>T (p.Ser1162Ile)
c.3320G>T (p.Ser1107Ile)
 gnomAD v4
1g.16986067C>GCA338230622ATP13A2c.*154G>C (n.*154G>C)
c.3395G>C (p.Ser1132Thr)
n.1743G>C
c.1115G>C (p.Ser372Thr)
c.3527G>C (p.Ser1176Thr)
c.3524G>C (p.Ser1175Thr)
c.3512G>C (p.Ser1171Thr)
c.3500G>C (p.Ser1167Thr)
c.3467G>C (p.Ser1156Thr)
c.3410G>C (p.Ser1137Thr)
c.3509G>C (p.Ser1170Thr)
c.3485G>C (p.Ser1162Thr)
c.3320G>C (p.Ser1107Thr)
1g.16986067C>TCA338230624ATP13A2c.*154G>A (n.*154G>A)
c.3395G>A (p.Ser1132Asn)
n.1743G>A
c.1115G>A (p.Ser372Asn)
c.3527G>A (p.Ser1176Asn)
c.3524G>A (p.Ser1175Asn)
c.3512G>A (p.Ser1171Asn)
c.3500G>A (p.Ser1167Asn)
c.3467G>A (p.Ser1156Asn)
c.3410G>A (p.Ser1137Asn)
c.3509G>A (p.Ser1170Asn)
c.3485G>A (p.Ser1162Asn)
c.3320G>A (p.Ser1107Asn)
1g.16986068T>ACA338230628ATP13A2c.*153A>T (n.*153A>T)
c.3394A>T (p.Ser1132Cys)
n.1742A>T
c.1114A>T (p.Ser372Cys)
c.3526A>T (p.Ser1176Cys)
c.3523A>T (p.Ser1175Cys)
c.3511A>T (p.Ser1171Cys)
c.3499A>T (p.Ser1167Cys)
c.3466A>T (p.Ser1156Cys)
c.3409A>T (p.Ser1137Cys)
c.3508A>T (p.Ser1170Cys)
c.3484A>T (p.Ser1162Cys)
c.3319A>T (p.Ser1107Cys)
1g.16986068T>CCA338230631ATP13A2c.*153A>G (n.*153A>G)
c.3394A>G (p.Ser1132Gly)
n.1742A>G
c.1114A>G (p.Ser372Gly)
c.3526A>G (p.Ser1176Gly)
c.3523A>G (p.Ser1175Gly)
c.3511A>G (p.Ser1171Gly)
c.3499A>G (p.Ser1167Gly)
c.3466A>G (p.Ser1156Gly)
c.3409A>G (p.Ser1137Gly)
c.3508A>G (p.Ser1170Gly)
c.3484A>G (p.Ser1162Gly)
c.3319A>G (p.Ser1107Gly)
1g.16986068T>GCA338230634ATP13A2c.*153A>C (n.*153A>C)
c.3394A>C (p.Ser1132Arg)
n.1742A>C
c.1114A>C (p.Ser372Arg)
c.3526A>C (p.Ser1176Arg)
c.3523A>C (p.Ser1175Arg)
c.3511A>C (p.Ser1171Arg)
c.3499A>C (p.Ser1167Arg)
c.3466A>C (p.Ser1156Arg)
c.3409A>C (p.Ser1137Arg)
c.3508A>C (p.Ser1170Arg)
c.3484A>C (p.Ser1162Arg)
c.3319A>C (p.Ser1107Arg)
1g.16986069T>CCA2695407043ATP13A2c.*152A>G (n.*152A>G)
c.3393A>G (p.Gly1131=)
n.1741A>G
c.1113A>G (p.Gly371=)
c.3525A>G (p.Gly1175=)
c.3522A>G (p.Gly1174=)
c.3510A>G (p.Gly1170=)
c.3498A>G (p.Gly1166=)
c.3465A>G (p.Gly1155=)
c.3408A>G (p.Gly1136=)
c.3507A>G (p.Gly1169=)
c.3483A>G (p.Gly1161=)
c.3318A>G (p.Gly1106=)
 dbSNP
1g.16986069T=CA1156048770ATP13A2c.*152A= (n.*152A=)
c.3393A= (p.Gly1131=)
n.1741A=
c.1113A= (p.Gly371=)
c.3525A= (p.Gly1175=)
c.3522A= (p.Gly1174=)
c.3510A= (p.Gly1170=)
c.3498A= (p.Gly1166=)
c.3465A= (p.Gly1155=)
c.3408A= (p.Gly1136=)
c.3507A= (p.Gly1169=)
c.3483A= (p.Gly1161=)
c.3318A= (p.Gly1106=)
1g.16986070C>ACA338230635ATP13A2c.*151G>T (n.*151G>T)
c.3392G>T (p.Gly1131Val)
n.1740G>T
c.1112G>T (p.Gly371Val)
c.3524G>T (p.Gly1175Val)
c.3521G>T (p.Gly1174Val)
c.3509G>T (p.Gly1170Val)
c.3497G>T (p.Gly1166Val)
c.3464G>T (p.Gly1155Val)
c.3407G>T (p.Gly1136Val)
c.3506G>T (p.Gly1169Val)
c.3482G>T (p.Gly1161Val)
c.3317G>T (p.Gly1106Val)
1g.16986070C=CA1156048781ATP13A2c.*151G= (n.*151G=)
c.3392G= (p.Gly1131=)
n.1740G=
c.1112G= (p.Gly371=)
c.3524G= (p.Gly1175=)
c.3521G= (p.Gly1174=)
c.3509G= (p.Gly1170=)
c.3497G= (p.Gly1166=)
c.3464G= (p.Gly1155=)
c.3407G= (p.Gly1136=)
c.3506G= (p.Gly1169=)
c.3482G= (p.Gly1161=)
c.3317G= (p.Gly1106=)
1g.16986070C>GCA338230639ATP13A2c.*151G>C (n.*151G>C)
c.3392G>C (p.Gly1131Ala)
n.1740G>C
c.1112G>C (p.Gly371Ala)
c.3524G>C (p.Gly1175Ala)
c.3521G>C (p.Gly1174Ala)
c.3509G>C (p.Gly1170Ala)
c.3497G>C (p.Gly1166Ala)
c.3464G>C (p.Gly1155Ala)
c.3407G>C (p.Gly1136Ala)
c.3506G>C (p.Gly1169Ala)
c.3482G>C (p.Gly1161Ala)
c.3317G>C (p.Gly1106Ala)
1g.16986070C>TCA338230641ATP13A2c.*151G>A (n.*151G>A)
c.3392G>A (p.Gly1131Glu)
n.1740G>A
c.1112G>A (p.Gly371Glu)
c.3524G>A (p.Gly1175Glu)
c.3521G>A (p.Gly1174Glu)
c.3509G>A (p.Gly1170Glu)
c.3497G>A (p.Gly1166Glu)
c.3464G>A (p.Gly1155Glu)
c.3407G>A (p.Gly1136Glu)
c.3506G>A (p.Gly1169Glu)
c.3482G>A (p.Gly1161Glu)
c.3317G>A (p.Gly1106Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.16986073dupCA636416ATP13A2c.*151dup (n.*151dup)
c.3392dup (p.Ser1132LysfsTer3)
n.1740dup
c.1112dup (p.Ser372LysfsTer3)
c.3524dup (p.Ser1176LysfsTer3)
c.3521dup (p.Ser1175LysfsTer3)
c.3509dup (p.Ser1171LysfsTer3)
c.3497dup (p.Ser1167LysfsTer3)
c.3464dup (p.Ser1156LysfsTer3)
c.3407dup (p.Ser1137LysfsTer3)
c.3506dup (p.Ser1170LysfsTer3)
c.3482dup (p.Ser1162LysfsTer3)
c.3317dup (p.Ser1107LysfsTer3)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986071C>ACA338230642ATP13A2c.*150G>T (n.*150G>T)
c.3391G>T (p.Gly1131Ter)
n.1739G>T
c.1111G>T (p.Gly371Ter)
c.3523G>T (p.Gly1175Ter)
c.3520G>T (p.Gly1174Ter)
c.3508G>T (p.Gly1170Ter)
c.3496G>T (p.Gly1166Ter)
c.3463G>T (p.Gly1155Ter)
c.3406G>T (p.Gly1136Ter)
c.3505G>T (p.Gly1169Ter)
c.3481G>T (p.Gly1161Ter)
c.3316G>T (p.Gly1106Ter)
1g.16986071C>GCA338230644ATP13A2c.*150G>C (n.*150G>C)
c.3391G>C (p.Gly1131Arg)
n.1739G>C
c.1111G>C (p.Gly371Arg)
c.3523G>C (p.Gly1175Arg)
c.3520G>C (p.Gly1174Arg)
c.3508G>C (p.Gly1170Arg)
c.3496G>C (p.Gly1166Arg)
c.3463G>C (p.Gly1155Arg)
c.3406G>C (p.Gly1136Arg)
c.3505G>C (p.Gly1169Arg)
c.3481G>C (p.Gly1161Arg)
c.3316G>C (p.Gly1106Arg)
1g.16986071C>TCA338230643ATP13A2c.*150G>A (n.*150G>A)
c.3391G>A (p.Gly1131Arg)
n.1739G>A
c.1111G>A (p.Gly371Arg)
c.3523G>A (p.Gly1175Arg)
c.3520G>A (p.Gly1174Arg)
c.3508G>A (p.Gly1170Arg)
c.3496G>A (p.Gly1166Arg)
c.3463G>A (p.Gly1155Arg)
c.3406G>A (p.Gly1136Arg)
c.3505G>A (p.Gly1169Arg)
c.3481G>A (p.Gly1161Arg)
c.3316G>A (p.Gly1106Arg)
 dbSNP
1g.16986072C>ACA338230645ATP13A2c.*149G>T (n.*149G>T)
c.3390G>T (p.Trp1130Cys)
n.1738G>T
c.1110G>T (p.Trp370Cys)
c.3522G>T (p.Trp1174Cys)
c.3519G>T (p.Trp1173Cys)
c.3507G>T (p.Trp1169Cys)
c.3495G>T (p.Trp1165Cys)
c.3462G>T (p.Trp1154Cys)
c.3405G>T (p.Trp1135Cys)
c.3504G>T (p.Trp1168Cys)
c.3480G>T (p.Trp1160Cys)
c.3315G>T (p.Trp1105Cys)
 gnomAD v4
1g.16986072C=CA1156048785ATP13A2c.*149G= (n.*149G=)
c.3390G= (p.Trp1130=)
n.1738G=
c.1110G= (p.Trp370=)
c.3522G= (p.Trp1174=)
c.3519G= (p.Trp1173=)
c.3507G= (p.Trp1169=)
c.3495G= (p.Trp1165=)
c.3462G= (p.Trp1154=)
c.3405G= (p.Trp1135=)
c.3504G= (p.Trp1168=)
c.3480G= (p.Trp1160=)
c.3315G= (p.Trp1105=)
1g.16986072C>GCA338230647ATP13A2c.*149G>C (n.*149G>C)
c.3390G>C (p.Trp1130Cys)
n.1738G>C
c.1110G>C (p.Trp370Cys)
c.3522G>C (p.Trp1174Cys)
c.3519G>C (p.Trp1173Cys)
c.3507G>C (p.Trp1169Cys)
c.3495G>C (p.Trp1165Cys)
c.3462G>C (p.Trp1154Cys)
c.3405G>C (p.Trp1135Cys)
c.3504G>C (p.Trp1168Cys)
c.3480G>C (p.Trp1160Cys)
c.3315G>C (p.Trp1105Cys)
1g.16986072C>TCA338230648ATP13A2c.*149G>A (n.*149G>A)
c.3390G>A (p.Trp1130Ter)
n.1738G>A
c.1110G>A (p.Trp370Ter)
c.3522G>A (p.Trp1174Ter)
c.3519G>A (p.Trp1173Ter)
c.3507G>A (p.Trp1169Ter)
c.3495G>A (p.Trp1165Ter)
c.3462G>A (p.Trp1154Ter)
c.3405G>A (p.Trp1135Ter)
c.3504G>A (p.Trp1168Ter)
c.3480G>A (p.Trp1160Ter)
c.3315G>A (p.Trp1105Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.16986073C>ACA338230649ATP13A2c.*148G>T (n.*148G>T)
c.3389G>T (p.Trp1130Leu)
n.1737G>T
c.1109G>T (p.Trp370Leu)
c.3521G>T (p.Trp1174Leu)
c.3518G>T (p.Trp1173Leu)
c.3506G>T (p.Trp1169Leu)
c.3494G>T (p.Trp1165Leu)
c.3461G>T (p.Trp1154Leu)
c.3404G>T (p.Trp1135Leu)
c.3503G>T (p.Trp1168Leu)
c.3479G>T (p.Trp1160Leu)
c.3314G>T (p.Trp1105Leu)
1g.16986073C=CA1156048787ATP13A2c.*148G= (n.*148G=)
c.3389G= (p.Trp1130=)
n.1737G=
c.1109G= (p.Trp370=)
c.3521G= (p.Trp1174=)
c.3518G= (p.Trp1173=)
c.3506G= (p.Trp1169=)
c.3494G= (p.Trp1165=)
c.3461G= (p.Trp1154=)
c.3404G= (p.Trp1135=)
c.3503G= (p.Trp1168=)
c.3479G= (p.Trp1160=)
c.3314G= (p.Trp1105=)
1g.16986073C>GCA338230651ATP13A2c.*148G>C (n.*148G>C)
c.3389G>C (p.Trp1130Ser)
n.1737G>C
c.1109G>C (p.Trp370Ser)
c.3521G>C (p.Trp1174Ser)
c.3518G>C (p.Trp1173Ser)
c.3506G>C (p.Trp1169Ser)
c.3494G>C (p.Trp1165Ser)
c.3461G>C (p.Trp1154Ser)
c.3404G>C (p.Trp1135Ser)
c.3503G>C (p.Trp1168Ser)
c.3479G>C (p.Trp1160Ser)
c.3314G>C (p.Trp1105Ser)
1g.16986073C>TCA338230653ATP13A2c.*148G>A (n.*148G>A)
c.3389G>A (p.Trp1130Ter)
n.1737G>A
c.1109G>A (p.Trp370Ter)
c.3521G>A (p.Trp1174Ter)
c.3518G>A (p.Trp1173Ter)
c.3506G>A (p.Trp1169Ter)
c.3494G>A (p.Trp1165Ter)
c.3461G>A (p.Trp1154Ter)
c.3404G>A (p.Trp1135Ter)
c.3503G>A (p.Trp1168Ter)
c.3479G>A (p.Trp1160Ter)
c.3314G>A (p.Trp1105Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986074A>CCA338230655ATP13A2c.*147T>G (n.*147T>G)
c.3388T>G (p.Trp1130Gly)
n.1736T>G
c.1108T>G (p.Trp370Gly)
c.3520T>G (p.Trp1174Gly)
c.3517T>G (p.Trp1173Gly)
c.3505T>G (p.Trp1169Gly)
c.3493T>G (p.Trp1165Gly)
c.3460T>G (p.Trp1154Gly)
c.3403T>G (p.Trp1135Gly)
c.3502T>G (p.Trp1168Gly)
c.3478T>G (p.Trp1160Gly)
c.3313T>G (p.Trp1105Gly)
 dbSNP
1g.16986074A>GCA338230657ATP13A2c.*147T>C (n.*147T>C)
c.3388T>C (p.Trp1130Arg)
n.1736T>C
c.1108T>C (p.Trp370Arg)
c.3520T>C (p.Trp1174Arg)
c.3517T>C (p.Trp1173Arg)
c.3505T>C (p.Trp1169Arg)
c.3493T>C (p.Trp1165Arg)
c.3460T>C (p.Trp1154Arg)
c.3403T>C (p.Trp1135Arg)
c.3502T>C (p.Trp1168Arg)
c.3478T>C (p.Trp1160Arg)
c.3313T>C (p.Trp1105Arg)
1g.16986074A>TCA338230658ATP13A2c.*147T>A (n.*147T>A)
c.3388T>A (p.Trp1130Arg)
n.1736T>A
c.1108T>A (p.Trp370Arg)
c.3520T>A (p.Trp1174Arg)
c.3517T>A (p.Trp1173Arg)
c.3505T>A (p.Trp1169Arg)
c.3493T>A (p.Trp1165Arg)
c.3460T>A (p.Trp1154Arg)
c.3403T>A (p.Trp1135Arg)
c.3502T>A (p.Trp1168Arg)
c.3478T>A (p.Trp1160Arg)
c.3313T>A (p.Trp1105Arg)
 dbSNP
1g.16986075G>ACA636417ATP13A2c.*146C>T (n.*146C>T)
c.3387C>T (p.Pro1129=)
n.1735C>T
c.1107C>T (p.Pro369=)
c.3519C>T (p.Pro1173=)
c.3516C>T (p.Pro1172=)
c.3504C>T (p.Pro1168=)
c.3492C>T (p.Pro1164=)
c.3459C>T (p.Pro1153=)
c.3402C>T (p.Pro1134=)
c.3501C>T (p.Pro1167=)
c.3477C>T (p.Pro1159=)
c.3312C>T (p.Pro1104=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986075G=CA1145031133ATP13A2c.*146C= (n.*146C=)
c.3387C= (p.Pro1129=)
n.1735C=
c.1107C= (p.Pro369=)
c.3519C= (p.Pro1173=)
c.3516C= (p.Pro1172=)
c.3504C= (p.Pro1168=)
c.3492C= (p.Pro1164=)
c.3459C= (p.Pro1153=)
c.3402C= (p.Pro1134=)
c.3501C= (p.Pro1167=)
c.3477C= (p.Pro1159=)
c.3312C= (p.Pro1104=)
1g.16986078_16986081dupCA2643667692ATP13A2c.*143_*146dup (n.*143_*146dup)
c.3384_3387dup (p.Trp1130ThrfsTer6)
n.1732_1735dup
c.1104_1107dup (p.Trp370ThrfsTer6)
c.3516_3519dup (p.Trp1174ThrfsTer6)
c.3513_3516dup (p.Trp1173ThrfsTer6)
c.3501_3504dup (p.Trp1169ThrfsTer6)
c.3489_3492dup (p.Trp1165ThrfsTer6)
c.3456_3459dup (p.Trp1154ThrfsTer6)
c.3399_3402dup (p.Trp1135ThrfsTer6)
c.3498_3501dup (p.Trp1168ThrfsTer6)
c.3474_3477dup (p.Trp1160ThrfsTer6)
c.3309_3312dup (p.Trp1105ThrfsTer6)
 gnomAD v4
1g.16986076G>ACA338230667ATP13A2c.*145C>T (n.*145C>T)
c.3386C>T (p.Pro1129Leu)
n.1734C>T
c.1106C>T (p.Pro369Leu)
c.3518C>T (p.Pro1173Leu)
c.3515C>T (p.Pro1172Leu)
c.3503C>T (p.Pro1168Leu)
c.3491C>T (p.Pro1164Leu)
c.3458C>T (p.Pro1153Leu)
c.3401C>T (p.Pro1134Leu)
c.3500C>T (p.Pro1167Leu)
c.3476C>T (p.Pro1159Leu)
c.3311C>T (p.Pro1104Leu)
 ClinVar dbSNP gnomAD v4
1g.16986076G>CCA338230666ATP13A2c.*145C>G (n.*145C>G)
c.3386C>G (p.Pro1129Arg)
n.1734C>G
c.1106C>G (p.Pro369Arg)
c.3518C>G (p.Pro1173Arg)
c.3515C>G (p.Pro1172Arg)
c.3503C>G (p.Pro1168Arg)
c.3491C>G (p.Pro1164Arg)
c.3458C>G (p.Pro1153Arg)
c.3401C>G (p.Pro1134Arg)
c.3500C>G (p.Pro1167Arg)
c.3476C>G (p.Pro1159Arg)
c.3311C>G (p.Pro1104Arg)
1g.16986076G=CA1156048790ATP13A2c.*145C= (n.*145C=)
c.3386C= (p.Pro1129=)
n.1734C=
c.1106C= (p.Pro369=)
c.3518C= (p.Pro1173=)
c.3515C= (p.Pro1172=)
c.3503C= (p.Pro1168=)
c.3491C= (p.Pro1164=)
c.3458C= (p.Pro1153=)
c.3401C= (p.Pro1134=)
c.3500C= (p.Pro1167=)
c.3476C= (p.Pro1159=)
c.3311C= (p.Pro1104=)
1g.16986076G>TCA18624310ATP13A2c.*145C>A (n.*145C>A)
c.3386C>A (p.Pro1129His)
n.1734C>A
c.1106C>A (p.Pro369His)
c.3518C>A (p.Pro1173His)
c.3515C>A (p.Pro1172His)
c.3503C>A (p.Pro1168His)
c.3491C>A (p.Pro1164His)
c.3458C>A (p.Pro1153His)
c.3401C>A (p.Pro1134His)
c.3500C>A (p.Pro1167His)
c.3476C>A (p.Pro1159His)
c.3311C>A (p.Pro1104His)
 dbSNP
1g.16986077G>ACA338230668ATP13A2c.*144C>T (n.*144C>T)
c.3385C>T (p.Pro1129Ser)
n.1733C>T
c.1105C>T (p.Pro369Ser)
c.3517C>T (p.Pro1173Ser)
c.3514C>T (p.Pro1172Ser)
c.3502C>T (p.Pro1168Ser)
c.3490C>T (p.Pro1164Ser)
c.3457C>T (p.Pro1153Ser)
c.3400C>T (p.Pro1134Ser)
c.3499C>T (p.Pro1167Ser)
c.3475C>T (p.Pro1159Ser)
c.3310C>T (p.Pro1104Ser)
 dbSNP gnomAD v2
1g.16986077G>CCA338230669ATP13A2c.*144C>G (n.*144C>G)
c.3385C>G (p.Pro1129Ala)
n.1733C>G
c.1105C>G (p.Pro369Ala)
c.3517C>G (p.Pro1173Ala)
c.3514C>G (p.Pro1172Ala)
c.3502C>G (p.Pro1168Ala)
c.3490C>G (p.Pro1164Ala)
c.3457C>G (p.Pro1153Ala)
c.3400C>G (p.Pro1134Ala)
c.3499C>G (p.Pro1167Ala)
c.3475C>G (p.Pro1159Ala)
c.3310C>G (p.Pro1104Ala)
1g.16986077G=CA1156048792ATP13A2c.*144C= (n.*144C=)
c.3385C= (p.Pro1129=)
n.1733C=
c.1105C= (p.Pro369=)
c.3517C= (p.Pro1173=)
c.3514C= (p.Pro1172=)
c.3502C= (p.Pro1168=)
c.3490C= (p.Pro1164=)
c.3457C= (p.Pro1153=)
c.3400C= (p.Pro1134=)
c.3499C= (p.Pro1167=)
c.3475C= (p.Pro1159=)
c.3310C= (p.Pro1104=)
1g.16986077G>TCA338230670ATP13A2c.*144C>A (n.*144C>A)
c.3385C>A (p.Pro1129Thr)
n.1733C>A
c.1105C>A (p.Pro369Thr)
c.3517C>A (p.Pro1173Thr)
c.3514C>A (p.Pro1172Thr)
c.3502C>A (p.Pro1168Thr)
c.3490C>A (p.Pro1164Thr)
c.3457C>A (p.Pro1153Thr)
c.3400C>A (p.Pro1134Thr)
c.3499C>A (p.Pro1167Thr)
c.3475C>A (p.Pro1159Thr)
c.3310C>A (p.Pro1104Thr)
 dbSNP gnomAD v2
1g.16986078T>ACA2643667700ATP13A2c.*143A>T (n.*143A>T)
c.3384A>T (p.Pro1128=)
n.1732A>T
c.1104A>T (p.Pro368=)
c.3516A>T (p.Pro1172=)
c.3513A>T (p.Pro1171=)
c.3501A>T (p.Pro1167=)
c.3489A>T (p.Pro1163=)
c.3456A>T (p.Pro1152=)
c.3399A>T (p.Pro1133=)
c.3498A>T (p.Pro1166=)
c.3474A>T (p.Pro1158=)
c.3309A>T (p.Pro1103=)
 gnomAD v4
1g.16986078T>GCA999084916ATP13A2c.*143A>C (n.*143A>C)
c.3384A>C (p.Pro1128=)
n.1732A>C
c.1104A>C (p.Pro368=)
c.3516A>C (p.Pro1172=)
c.3513A>C (p.Pro1171=)
c.3501A>C (p.Pro1167=)
c.3489A>C (p.Pro1163=)
c.3456A>C (p.Pro1152=)
c.3399A>C (p.Pro1133=)
c.3498A>C (p.Pro1166=)
c.3474A>C (p.Pro1158=)
c.3309A>C (p.Pro1103=)
 dbSNP gnomAD v3 gnomAD v4
1g.16986079G>ACA338230671ATP13A2c.*142C>T (n.*142C>T)
c.3383C>T (p.Pro1128Leu)
n.1731C>T
c.1103C>T (p.Pro368Leu)
c.3515C>T (p.Pro1172Leu)
c.3512C>T (p.Pro1171Leu)
c.3500C>T (p.Pro1167Leu)
c.3488C>T (p.Pro1163Leu)
c.3455C>T (p.Pro1152Leu)
c.3398C>T (p.Pro1133Leu)
c.3497C>T (p.Pro1166Leu)
c.3473C>T (p.Pro1158Leu)
c.3308C>T (p.Pro1103Leu)
 gnomAD v4
1g.16986079G>CCA338230673ATP13A2c.*142C>G (n.*142C>G)
c.3383C>G (p.Pro1128Arg)
n.1731C>G
c.1103C>G (p.Pro368Arg)
c.3515C>G (p.Pro1172Arg)
c.3512C>G (p.Pro1171Arg)
c.3500C>G (p.Pro1167Arg)
c.3488C>G (p.Pro1163Arg)
c.3455C>G (p.Pro1152Arg)
c.3398C>G (p.Pro1133Arg)
c.3497C>G (p.Pro1166Arg)
c.3473C>G (p.Pro1158Arg)
c.3308C>G (p.Pro1103Arg)
 gnomAD v4
1g.16986079G=CA1156048796ATP13A2c.*142C= (n.*142C=)
c.3383C= (p.Pro1128=)
n.1731C=
c.1103C= (p.Pro368=)
c.3515C= (p.Pro1172=)
c.3512C= (p.Pro1171=)
c.3500C= (p.Pro1167=)
c.3488C= (p.Pro1163=)
c.3455C= (p.Pro1152=)
c.3398C= (p.Pro1133=)
c.3497C= (p.Pro1166=)
c.3473C= (p.Pro1158=)
c.3308C= (p.Pro1103=)
1g.16986079G>TCA636418ATP13A2c.*142C>A (n.*142C>A)
c.3383C>A (p.Pro1128Gln)
n.1731C>A
c.1103C>A (p.Pro368Gln)
c.3515C>A (p.Pro1172Gln)
c.3512C>A (p.Pro1171Gln)
c.3500C>A (p.Pro1167Gln)
c.3488C>A (p.Pro1163Gln)
c.3455C>A (p.Pro1152Gln)
c.3398C>A (p.Pro1133Gln)
c.3497C>A (p.Pro1166Gln)
c.3473C>A (p.Pro1158Gln)
c.3308C>A (p.Pro1103Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986083delCA2643667704ATP13A2c.*142del (n.*142del)
c.3383del (p.Pro1128HisfsTer?)
n.1731del
c.1103del (p.Pro368HisfsTer?)
c.3515del (p.Pro1172HisfsTer?)
c.3512del (p.Pro1171HisfsTer?)
c.3500del (p.Pro1167HisfsTer?)
c.3488del (p.Pro1163HisfsTer?)
c.3455del (p.Pro1152HisfsTer?)
c.3398del (p.Pro1133HisfsTer?)
c.3497del (p.Pro1166HisfsTer?)
c.3473del (p.Pro1158HisfsTer?)
c.3308del (p.Pro1103HisfsTer?)
 gnomAD v4
1g.16986080G>ACA338230674ATP13A2c.*141C>T (n.*141C>T)
c.3382C>T (p.Pro1128Ser)
n.1730C>T
c.1102C>T (p.Pro368Ser)
c.3514C>T (p.Pro1172Ser)
c.3511C>T (p.Pro1171Ser)
c.3499C>T (p.Pro1167Ser)
c.3487C>T (p.Pro1163Ser)
c.3454C>T (p.Pro1152Ser)
c.3397C>T (p.Pro1133Ser)
c.3496C>T (p.Pro1166Ser)
c.3472C>T (p.Pro1158Ser)
c.3307C>T (p.Pro1103Ser)
1g.16986080G>CCA338230676ATP13A2c.*141C>G (n.*141C>G)
c.3382C>G (p.Pro1128Ala)
n.1730C>G
c.1102C>G (p.Pro368Ala)
c.3514C>G (p.Pro1172Ala)
c.3511C>G (p.Pro1171Ala)
c.3499C>G (p.Pro1167Ala)
c.3487C>G (p.Pro1163Ala)
c.3454C>G (p.Pro1152Ala)
c.3397C>G (p.Pro1133Ala)
c.3496C>G (p.Pro1166Ala)
c.3472C>G (p.Pro1158Ala)
c.3307C>G (p.Pro1103Ala)
1g.16986080G>TCA338230678ATP13A2c.*141C>A (n.*141C>A)
c.3382C>A (p.Pro1128Thr)
n.1730C>A
c.1102C>A (p.Pro368Thr)
c.3514C>A (p.Pro1172Thr)
c.3511C>A (p.Pro1171Thr)
c.3499C>A (p.Pro1167Thr)
c.3487C>A (p.Pro1163Thr)
c.3454C>A (p.Pro1152Thr)
c.3397C>A (p.Pro1133Thr)
c.3496C>A (p.Pro1166Thr)
c.3472C>A (p.Pro1158Thr)
c.3307C>A (p.Pro1103Thr)
1g.16986081G>CCA636419ATP13A2c.*140C>G (n.*140C>G)
c.3381C>G (p.Pro1127=)
n.1729C>G
c.1101C>G (p.Pro367=)
c.3513C>G (p.Pro1171=)
c.3510C>G (p.Pro1170=)
c.3498C>G (p.Pro1166=)
c.3486C>G (p.Pro1162=)
c.3453C>G (p.Pro1151=)
c.3396C>G (p.Pro1132=)
c.3495C>G (p.Pro1165=)
c.3471C>G (p.Pro1157=)
c.3306C>G (p.Pro1102=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986081G=CA1146542995ATP13A2c.*140C= (n.*140C=)
c.3381C= (p.Pro1127=)
n.1729C=
c.1101C= (p.Pro367=)
c.3513C= (p.Pro1171=)
c.3510C= (p.Pro1170=)
c.3498C= (p.Pro1166=)
c.3486C= (p.Pro1162=)
c.3453C= (p.Pro1151=)
c.3396C= (p.Pro1132=)
c.3495C= (p.Pro1165=)
c.3471C= (p.Pro1157=)
c.3306C= (p.Pro1102=)
1g.16986082G>ACA18624343ATP13A2c.*139C>T (n.*139C>T)
c.3380C>T (p.Pro1127Leu)
n.1728C>T
c.1100C>T (p.Pro367Leu)
c.3512C>T (p.Pro1171Leu)
c.3509C>T (p.Pro1170Leu)
c.3497C>T (p.Pro1166Leu)
c.3485C>T (p.Pro1162Leu)
c.3452C>T (p.Pro1151Leu)
c.3395C>T (p.Pro1132Leu)
c.3494C>T (p.Pro1165Leu)
c.3470C>T (p.Pro1157Leu)
c.3305C>T (p.Pro1102Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986082G>CCA338230681ATP13A2c.*139C>G (n.*139C>G)
c.3380C>G (p.Pro1127Arg)
n.1728C>G
c.1100C>G (p.Pro367Arg)
c.3512C>G (p.Pro1171Arg)
c.3509C>G (p.Pro1170Arg)
c.3497C>G (p.Pro1166Arg)
c.3485C>G (p.Pro1162Arg)
c.3452C>G (p.Pro1151Arg)
c.3395C>G (p.Pro1132Arg)
c.3494C>G (p.Pro1165Arg)
c.3470C>G (p.Pro1157Arg)
c.3305C>G (p.Pro1102Arg)
1g.16986082G=CA1156048808ATP13A2c.*139C= (n.*139C=)
c.3380C= (p.Pro1127=)
n.1728C=
c.1100C= (p.Pro367=)
c.3512C= (p.Pro1171=)
c.3509C= (p.Pro1170=)
c.3497C= (p.Pro1166=)
c.3485C= (p.Pro1162=)
c.3452C= (p.Pro1151=)
c.3395C= (p.Pro1132=)
c.3494C= (p.Pro1165=)
c.3470C= (p.Pro1157=)
c.3305C= (p.Pro1102=)
1g.16986082G>TCA338230682ATP13A2c.*139C>A (n.*139C>A)
c.3380C>A (p.Pro1127His)
n.1728C>A
c.1100C>A (p.Pro367His)
c.3512C>A (p.Pro1171His)
c.3509C>A (p.Pro1170His)
c.3497C>A (p.Pro1166His)
c.3485C>A (p.Pro1162His)
c.3452C>A (p.Pro1151His)
c.3395C>A (p.Pro1132His)
c.3494C>A (p.Pro1165His)
c.3470C>A (p.Pro1157His)
c.3305C>A (p.Pro1102His)
1g.16986083G>ACA338230685ATP13A2c.*138C>T (n.*138C>T)
c.3379C>T (p.Pro1127Ser)
n.1727C>T
c.1099C>T (p.Pro367Ser)
c.3511C>T (p.Pro1171Ser)
c.3508C>T (p.Pro1170Ser)
c.3496C>T (p.Pro1166Ser)
c.3484C>T (p.Pro1162Ser)
c.3451C>T (p.Pro1151Ser)
c.3394C>T (p.Pro1132Ser)
c.3493C>T (p.Pro1165Ser)
c.3469C>T (p.Pro1157Ser)
c.3304C>T (p.Pro1102Ser)
 ClinVar
1g.16986083G>CCA338230683ATP13A2c.*138C>G (n.*138C>G)
c.3379C>G (p.Pro1127Ala)
n.1727C>G
c.1099C>G (p.Pro367Ala)
c.3511C>G (p.Pro1171Ala)
c.3508C>G (p.Pro1170Ala)
c.3496C>G (p.Pro1166Ala)
c.3484C>G (p.Pro1162Ala)
c.3451C>G (p.Pro1151Ala)
c.3394C>G (p.Pro1132Ala)
c.3493C>G (p.Pro1165Ala)
c.3469C>G (p.Pro1157Ala)
c.3304C>G (p.Pro1102Ala)
1g.16986083G=CA1156048815ATP13A2c.*138C= (n.*138C=)
c.3379C= (p.Pro1127=)
n.1727C=
c.1099C= (p.Pro367=)
c.3511C= (p.Pro1171=)
c.3508C= (p.Pro1170=)
c.3496C= (p.Pro1166=)
c.3484C= (p.Pro1162=)
c.3451C= (p.Pro1151=)
c.3394C= (p.Pro1132=)
c.3493C= (p.Pro1165=)
c.3469C= (p.Pro1157=)
c.3304C= (p.Pro1102=)
1g.16986083G>TCA636420ATP13A2c.*138C>A (n.*138C>A)
c.3379C>A (p.Pro1127Thr)
n.1727C>A
c.1099C>A (p.Pro367Thr)
c.3511C>A (p.Pro1171Thr)
c.3508C>A (p.Pro1170Thr)
c.3496C>A (p.Pro1166Thr)
c.3484C>A (p.Pro1162Thr)
c.3451C>A (p.Pro1151Thr)
c.3394C>A (p.Pro1132Thr)
c.3493C>A (p.Pro1165Thr)
c.3469C>A (p.Pro1157Thr)
c.3304C>A (p.Pro1102Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.16986084T>ACA890928313ATP13A2c.*137A>T (n.*137A>T)
c.3378A>T (p.Pro1126=)
n.1726A>T
c.1098A>T (p.Pro366=)
c.3510A>T (p.Pro1170=)
c.3507A>T (p.Pro1169=)
c.3495A>T (p.Pro1165=)
c.3483A>T (p.Pro1161=)
c.3450A>T (p.Pro1150=)
c.3393A>T (p.Pro1131=)
c.3492A>T (p.Pro1164=)
c.3468A>T (p.Pro1156=)
c.3303A>T (p.Pro1101=)
 dbSNP gnomAD v3 gnomAD v4
1g.16986084T>CCA636421ATP13A2c.*137A>G (n.*137A>G)
c.3378A>G (p.Pro1126=)
n.1726A>G
c.1098A>G (p.Pro366=)
c.3510A>G (p.Pro1170=)
c.3507A>G (p.Pro1169=)
c.3495A>G (p.Pro1165=)
c.3483A>G (p.Pro1161=)
c.3450A>G (p.Pro1150=)
c.3393A>G (p.Pro1131=)
c.3492A>G (p.Pro1164=)
c.3468A>G (p.Pro1156=)
c.3303A>G (p.Pro1101=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986084T>GCA2643667730ATP13A2c.*137A>C (n.*137A>C)
c.3378A>C (p.Pro1126=)
n.1726A>C
c.1098A>C (p.Pro366=)
c.3510A>C (p.Pro1170=)
c.3507A>C (p.Pro1169=)
c.3495A>C (p.Pro1165=)
c.3483A>C (p.Pro1161=)
c.3450A>C (p.Pro1150=)
c.3393A>C (p.Pro1131=)
c.3492A>C (p.Pro1164=)
c.3468A>C (p.Pro1156=)
c.3303A>C (p.Pro1101=)
 dbSNP gnomAD v4
1g.16986084T=CA1143558522ATP13A2c.*137A= (n.*137A=)
c.3378A= (p.Pro1126=)
n.1726A=
c.1098A= (p.Pro366=)
c.3510A= (p.Pro1170=)
c.3507A= (p.Pro1169=)
c.3495A= (p.Pro1165=)
c.3483A= (p.Pro1161=)
c.3450A= (p.Pro1150=)
c.3393A= (p.Pro1131=)
c.3492A= (p.Pro1164=)
c.3468A= (p.Pro1156=)
c.3303A= (p.Pro1101=)

Number of alleles fetched