| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16985950A>G | CA2643667412 | gnomAD v4 | ||
| 1 | g.16985951C>G | CA2643667414 | gnomAD v4 | ||
| 1 | g.16985952A= | CA1156048519 | |||
| 1 | g.16985952A>G | CA18624150 | dbSNP gnomAD v3 gnomAD v4 | ||
| 1 | g.16985953G>A | CA890928133 | dbSNP gnomAD v4 | ||
| 1 | g.16985953G= | CA1156048527 | |||
| 1 | g.16985953G>T | CA2643667417 | gnomAD v4 | ||
| 1 | g.16985954C>T | CA2643667418 | gnomAD v4 | ||
| 1 | g.16985956G>A | CA2643667419 | gnomAD v4 | ||
| 1 | g.16985958G>A | CA18624152 | ATP13A2 | c.*263C>T (n.*263C>T) c.*27C>T (n.*27C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16985958G= | CA1156048528 | ATP13A2 | c.*263C= (n.*263C=) c.*27C= (n.*27C=) | |
| 1 | g.16985958G>T | CA2643667421 | ATP13A2 | c.*263C>A (n.*263C>A) c.*27C>A (n.*27C>A) | gnomAD v4 |
| 1 | g.16985959C>T | CA2643667423 | ATP13A2 | c.*262G>A (n.*262G>A) c.*26G>A (n.*26G>A) n.1851G>A | gnomAD v4 |
| 1 | g.16985962_16985963insA | CA645671293 | ATP13A2 | c.*258_*259insT (n.*258_*259insT) c.*22_*23insT (n.*22_*23insT) n.1847_1848insT | COSMIC |
| 1 | g.16985963G>A | CA636401 | ATP13A2 | c.*258C>T (n.*258C>T) c.*22C>T (n.*22C>T) n.1847C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16985963G= | CA1156048533 | ATP13A2 | c.*258C= (n.*258C=) c.*22C= (n.*22C=) n.1847C= | |
| 1 | g.16985963G>T | CA2643667429 | ATP13A2 | c.*258C>A (n.*258C>A) c.*22C>A (n.*22C>A) n.1847C>A | gnomAD v4 |
| 1 | g.16985964A>G | CA2643667430 | ATP13A2 | c.*257T>C (n.*257T>C) c.*21T>C (n.*21T>C) n.1846T>C | gnomAD v4 |
| 1 | g.16985967A= | CA1156048537 | ATP13A2 | c.*254T= (n.*254T=) c.*18T= (n.*18T=) n.1843T= | |
| 1 | g.16985967A>C | CA18624162 | ATP13A2 | c.*254T>G (n.*254T>G) c.*18T>G (n.*18T>G) n.1843T>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16985967A>G | CA18624170 | ATP13A2 | c.*254T>C (n.*254T>C) c.*18T>C (n.*18T>C) n.1843T>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16985967A>T | CA890928138 | ATP13A2 | c.*254T>A (n.*254T>A) c.*18T>A (n.*18T>A) n.1843T>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16985968T>A | CA636402 | ATP13A2 | c.*253A>T (n.*253A>T) c.*17A>T (n.*17A>T) n.1842A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16985968T>C | CA2643667433 | ATP13A2 | c.*253A>G (n.*253A>G) c.*17A>G (n.*17A>G) n.1842A>G | gnomAD v4 |
| 1 | g.16985968T= | CA1156048542 | ATP13A2 | c.*253A= (n.*253A=) c.*17A= (n.*17A=) n.1842A= | |
| 1 | g.16985968_16985971delinsTATC | CA1156048543 | ATP13A2 | c.*250_*253delinsGATA (n.*250_*253delinsGATA) c.*14_*17delinsGATA (n.*14_*17delinsGATA) n.1839_1842delinsGATA | |
| 1 | g.16985969A>G | CA2574234553 | ATP13A2 | c.*252T>C (n.*252T>C) c.*16T>C (n.*16T>C) n.1841T>C | gnomAD v4 |
| 1 | g.16985971_16985973del | CA999084852 | ATP13A2 | c.*250_*252del (n.*250_*252del) c.*14_*16del (n.*14_*16del) n.1839_1841del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16985970T>A | CA636404 | ATP13A2 | c.*251A>T (n.*251A>T) c.*15A>T (n.*15A>T) n.1840A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16985970T>C | CA636403 | ATP13A2 | c.*251A>G (n.*251A>G) c.*15A>G (n.*15A>G) n.1840A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16985970T= | CA1144857442 | ATP13A2 | c.*251A= (n.*251A=) c.*15A= (n.*15A=) n.1840A= | |
| 1 | g.16985971C>A | CA2643667439 | ATP13A2 | c.*250G>T (n.*250G>T) c.*14G>T (n.*14G>T) n.1839G>T | gnomAD v4 |
| 1 | g.16985972A>C | CA2643667440 | ATP13A2 | c.*249T>G (n.*249T>G) c.*13T>G (n.*13T>G) n.1838T>G | gnomAD v4 |
| 1 | g.16985972A>G | CA2695407036 | ATP13A2 | c.*249T>C (n.*249T>C) c.*13T>C (n.*13T>C) n.1838T>C | dbSNP |
| 1 | g.16985972A>T | CA2643667441 | ATP13A2 | c.*249T>A (n.*249T>A) c.*13T>A (n.*13T>A) n.1838T>A | gnomAD v4 |
| 1 | g.16985973T>A | CA521027683 | ATP13A2 | c.*248A>T (n.*248A>T) c.*12A>T (n.*12A>T) n.1837A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16985973T= | CA1156048551 | ATP13A2 | c.*248A= (n.*248A=) c.*12A= (n.*12A=) n.1837A= | |
| 1 | g.16985974G>C | CA521027684 | ATP13A2 | c.*247C>G (n.*247C>G) c.*11C>G (n.*11C>G) n.1836C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16985974G= | CA1156048555 | ATP13A2 | c.*247C= (n.*247C=) c.*11C= (n.*11C=) n.1836C= | |
| 1 | g.16985974G>T | CA2643667442 | ATP13A2 | c.*247C>A (n.*247C>A) c.*11C>A (n.*11C>A) n.1836C>A | gnomAD v4 |
| 1 | g.16985975A= | CA1156048557 | ATP13A2 | c.*246T= (n.*246T=) c.*10T= (n.*10T=) n.1835T= | |
| 1 | g.16985975A>G | CA521027685 | ATP13A2 | c.*246T>C (n.*246T>C) c.*10T>C (n.*10T>C) n.1835T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16985976C>A | CA2643667443 | ATP13A2 | c.*245G>T (n.*245G>T) c.*9G>T (n.*9G>T) n.1834G>T | gnomAD v4 |
| 1 | g.16985976C>T | CA2643667444 | ATP13A2 | c.*245G>A (n.*245G>A) c.*9G>A (n.*9G>A) n.1834G>A | gnomAD v4 |
| 1 | g.16985976_16985977delinsCT | CA1156048558 | ATP13A2 | c.*244_*245delinsAG (n.*244_*245delinsAG) c.*8_*9delinsAG (n.*8_*9delinsAG) n.1833_1834delinsAG | |
| 1 | g.16985977T>C | CA2643667446 | ATP13A2 | c.*244A>G (n.*244A>G) c.*8A>G (n.*8A>G) n.1833A>G | gnomAD v4 |
| 1 | g.16985979del | CA890928153 | ATP13A2 | c.*244del (n.*244del) c.*8del (n.*8del) n.1833del | dbSNP gnomAD v4 |
| 1 | g.16985977_16985978insA | CA2643667447 | ATP13A2 | c.*243_*244insT (n.*243_*244insT) c.*7_*8insT (n.*7_*8insT) n.1832_1833insT | gnomAD v4 |
| 1 | g.16985978T>G | CA636405 | ATP13A2 | c.*243A>C (n.*243A>C) c.*7A>C (n.*7A>C) n.1832A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16985978T= | CA1156048560 | ATP13A2 | c.*243A= (n.*243A=) c.*7A= (n.*7A=) n.1832A= | |
| 1 | g.16985978_16985979insA | CA2643667449 | ATP13A2 | c.*242_*243insT (n.*242_*243insT) c.*6_*7insT (n.*6_*7insT) n.1831_1832insT | gnomAD v4 |
| 1 | g.16985981T>C | CA2574234570 | ATP13A2 | c.*240A>G (n.*240A>G) c.*4A>G (n.*4A>G) n.1829A>G c.1201A>G (n.1201A>G) | gnomAD v4 |
| 1 | g.16985983T>C | CA1156048564 | ATP13A2 | c.*238A>G (n.*238A>G) c.*2A>G (n.*2A>G) n.1827A>G c.1199A>G (n.1199A>G) | dbSNP gnomAD v4 |
| 1 | g.16985983T= | CA1156048563 | ATP13A2 | c.*238A= (n.*238A=) c.*2A= (n.*2A=) n.1827A= c.1199A= (n.1199A=) | |
| 1 | g.16985984G>A | CA1156048566 | ATP13A2 | c.*237C>T (n.*237C>T) c.*1C>T (n.*1C>T) n.1826C>T c.1198C>T (n.1198C>T) | dbSNP |
| 1 | g.16985984G= | CA1156048567 | ATP13A2 | c.*237C= (n.*237C=) c.*1C= (n.*1C=) n.1826C= c.1198C= (n.1198C=) | |
| 1 | g.16985984G>T | CA2643667450 | ATP13A2 | c.*237C>A (n.*237C>A) c.*1C>A (n.*1C>A) n.1826C>A c.1198C>A (n.1198C>A) | gnomAD v4 |
| 1 | g.16985985C>A | CA636406 | ATP13A2 | c.*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 |
| 1 | g.16985985C= | CA1149059388 | ATP13A2 | c.*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=) | |
| 1 | g.16985985C>G | CA338230271 | ATP13A2 | c.*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 |
| 1 | g.16985985C>T | CA18624201 | ATP13A2 | c.*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 |
| 1 | g.16985986T>A | CA338230277 | ATP13A2 | c.*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) | |
| 1 | g.16985986T>C | CA338230276 | ATP13A2 | c.*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 |
| 1 | g.16985986T>G | CA338230273 | ATP13A2 | c.*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) | |
| 1 | g.16985987A>C | CA338230283 | ATP13A2 | c.*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) | |
| 1 | g.16985987A>G | CA338230286 | ATP13A2 | c.*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) | |
| 1 | g.16985987A>T | CA338230288 | ATP13A2 | c.*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) | |
| 1 | g.16985988C>T | CA2643667456 | ATP13A2 | c.*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 |
| 1 | g.16985989A>C | CA338230291 | ATP13A2 | c.*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) | |
| 1 | g.16985989A>G | CA338230293 | ATP13A2 | c.*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) | |
| 1 | g.16985989A>T | CA338230295 | ATP13A2 | c.*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) | |
| 1 | g.16985990C>A | CA338230298 | ATP13A2 | c.*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 |
| 1 | g.16985990C= | CA1140985773 | ATP13A2 | c.*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=) | |
| 1 | g.16985990C>G | CA338230301 | ATP13A2 | c.*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) | |
| 1 | g.16985990C>T | CA636407 | ATP13A2 | c.*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 |
| 1 | g.16985991T>C | CA2643667457 | ATP13A2 | c.*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 |
| 1 | g.16985992G>A | CA338230306 | ATP13A2 | c.*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) | |
| 1 | g.16985992G>C | CA338230309 | ATP13A2 | c.*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) | |
| 1 | g.16985992G>T | CA338230311 | ATP13A2 | c.*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) | |
| 1 | g.16985993A>C | CA338230323 | ATP13A2 | c.*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) | |
| 1 | g.16985993A>G | CA338230322 | ATP13A2 | c.*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 |
| 1 | g.16985993A>T | CA338230316 | ATP13A2 | c.*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) | |
| 1 | g.16985994C>T | CA2643667458 | ATP13A2 | c.*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 |
| 1 | g.16985995A>C | CA338230331 | ATP13A2 | c.*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) | |
| 1 | g.16985995A>G | CA338230327 | ATP13A2 | c.*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 |
| 1 | g.16985995A>T | CA338230330 | ATP13A2 | c.*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) | |
| 1 | g.16985996G>A | CA636408 | ATP13A2 | c.*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 |
| 1 | g.16985996G>C | CA338230335 | ATP13A2 | c.*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) | |
| 1 | g.16985996G= | CA1156048573 | ATP13A2 | c.*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=) | |
| 1 | g.16985996G>T | CA338230342 | ATP13A2 | c.*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 |
| 1 | g.16985997C>A | CA2643667462 | ATP13A2 | c.*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 |
| 1 | g.16985997C= | CA1156048575 | ATP13A2 | c.*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=) | |
| 1 | g.16985997C>T | CA1156048579 | ATP13A2 | c.*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 |
| 1 | g.16985998A>C | CA338230344 | ATP13A2 | c.*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) | |
| 1 | g.16985998A>G | CA338230345 | ATP13A2 | c.*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) | |
| 1 | g.16985998A>T | CA338230347 | ATP13A2 | c.*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) | |
| 1 | g.16985999G>A | CA2643667464 | ATP13A2 | c.*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 |
| 1 | g.16985999G>C | CA338230349 | ATP13A2 | c.*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) | |
| 1 | g.16985999G>T | CA338230352 | ATP13A2 | c.*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) | |
| 1 | g.16986000C>T | CA2643667467 | ATP13A2 | c.*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 |
| 1 | g.16986001A= | CA1156048585 | ATP13A2 | c.*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=) | |
| 1 | g.16986001A>C | CA338230354 | ATP13A2 | c.*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) | |
| 1 | g.16986001A>G | CA338230356 | ATP13A2 | c.*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 |
| 1 | g.16986001A>T | CA338230358 | ATP13A2 | c.*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) | |
| 1 | g.16986002C>A | CA338230371 | ATP13A2 | c.*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) | |
| 1 | g.16986002C>G | CA338230361 | ATP13A2 | c.*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 |
| 1 | g.16986002C>T | CA338230369 | ATP13A2 | c.*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 |
| 1 | g.16986004G>A | CA338230373 | ATP13A2 | c.*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 |
| 1 | g.16986004G>C | CA338230375 | ATP13A2 | c.*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) | |
| 1 | g.16986004G>T | CA338230377 | ATP13A2 | c.*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) | |
| 1 | g.16986005A>C | CA338230384 | ATP13A2 | c.*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) | |
| 1 | g.16986005A>G | CA338230387 | ATP13A2 | c.*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 |
| 1 | g.16986005A>T | CA338230390 | ATP13A2 | c.*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) | |
| 1 | g.16986006G>A | CA2643667479 | ATP13A2 | c.*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 |
| 1 | g.16986006G>T | CA2643667480 | ATP13A2 | c.*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 |
| 1 | g.16986009del | CA2643667477 | ATP13A2 | c.*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 |
| 1 | g.16986007G>A | CA338230393 | ATP13A2 | c.*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 |
| 1 | g.16986007G>C | CA338230395 | ATP13A2 | c.*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) | |
| 1 | g.16986007G>T | CA338230397 | ATP13A2 | c.*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 |
| 1 | g.16986008G>A | CA338230400 | ATP13A2 | c.*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 |
| 1 | g.16986008G>C | CA338230403 | ATP13A2 | c.*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) | |
| 1 | g.16986008G>T | CA338230406 | ATP13A2 | c.*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 |
| 1 | g.16986009G>A | CA521027686 | ATP13A2 | c.*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 |
| 1 | g.16986009G>C | CA2643667491 | ATP13A2 | c.*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 |
| 1 | g.16986009G= | CA1156048590 | ATP13A2 | c.*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=) | |
| 1 | g.16986009G>T | CA2643667493 | ATP13A2 | c.*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 |
| 1 | g.16986010A= | CA1156048596 | ATP13A2 | c.*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=) | |
| 1 | g.16986010A>C | CA338230410 | ATP13A2 | c.*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) | |
| 1 | g.16986010A>G | CA338230414 | ATP13A2 | c.*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 |
| 1 | g.16986010A>T | CA338230408 | ATP13A2 | c.*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) | |
| 1 | g.16986011G>A | CA18624214 | ATP13A2 | c.*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 |
| 1 | g.16986011G>C | CA338230417 | ATP13A2 | c.*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) | |
| 1 | g.16986011G= | CA1146124920 | ATP13A2 | c.*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=) | |
| 1 | g.16986011G>T | CA338230415 | ATP13A2 | c.*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 |
| 1 | g.16986012C>A | CA338230420 | ATP13A2 | c.*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 |
| 1 | g.16986012C>G | CA338230421 | ATP13A2 | c.*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 |
| 1 | g.16986012C>T | CA2643667505 | ATP13A2 | c.*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 |
| 1 | g.16986013T>A | CA338230423 | ATP13A2 | c.*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) | |
| 1 | g.16986013T>C | CA338230424 | ATP13A2 | c.*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 |
| 1 | g.16986013T>G | CA338230425 | ATP13A2 | c.*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) | |
| 1 | g.16986013T= | CA1156048603 | ATP13A2 | c.*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=) | |
| 1 | g.16986013_16986014delinsTG | CA1156048604 | ATP13A2 | c.*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=) | |
| 1 | g.16986014G>A | CA338230427 | ATP13A2 | c.*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 |
| 1 | g.16986014G>C | CA338230428 | ATP13A2 | c.*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) | |
| 1 | g.16986014G>T | CA338230430 | ATP13A2 | c.*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 |
| 1 | g.16986018dup | CA2643667519 | ATP13A2 | c.*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 |
| 1 | g.16986018del | CA916118985 | ATP13A2 | c.*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 |
| 1 | g.16986015G>T | CA2643667520 | ATP13A2 | c.*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 |
| 1 | g.16986016G>A | CA338230431 | ATP13A2 | c.*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) | |
| 1 | g.16986016G>C | CA338230432 | ATP13A2 | c.*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) | |
| 1 | g.16986016G>T | CA338230433 | ATP13A2 | c.*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) | |
| 1 | g.16986017G>A | CA338230436 | ATP13A2 | c.*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 |
| 1 | g.16986017G>C | CA338230435 | ATP13A2 | c.*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) | |
| 1 | g.16986017G= | CA1156048608 | ATP13A2 | c.*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=) | |
| 1 | g.16986017G>T | CA338230434 | ATP13A2 | c.*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 |
| 1 | g.16986018G>A | CA2643667525 | ATP13A2 | c.*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 |
| 1 | g.16986018G>C | CA338230438 | ATP13A2 | c.*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) | |
| 1 | g.16986018G= | CA1156048610 | ATP13A2 | c.*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=) | |
| 1 | g.16986018G>T | CA338230440 | ATP13A2 | c.*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 |
| 1 | g.16986019C>A | CA338230441 | ATP13A2 | c.*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 |
| 1 | g.16986019C>G | CA338230442 | ATP13A2 | c.*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) | |
| 1 | g.16986019C>T | CA338230443 | ATP13A2 | c.*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 |
| 1 | g.16986020T>A | CA338230444 | ATP13A2 | c.*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) | |
| 1 | g.16986020T>C | CA636409 | ATP13A2 | c.*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 |
| 1 | g.16986020T>G | CA338230445 | ATP13A2 | c.*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) | |
| 1 | g.16986020T= | CA1156048614 | ATP13A2 | c.*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=) | |
| 1 | g.16986021G>A | CA999084871 | ATP13A2 | c.*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 |
| 1 | g.16986021G>C | CA2643667539 | ATP13A2 | c.*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 |
| 1 | g.16986021G= | CA1156048626 | ATP13A2 | c.*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=) | |
| 1 | g.16986021G>T | CA2643667540 | ATP13A2 | c.*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 |
| 1 | g.16986022C>A | CA338230446 | ATP13A2 | c.*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 |
| 1 | g.16986022C>G | CA338230447 | ATP13A2 | c.*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) | |
| 1 | g.16986022C>T | CA338230449 | ATP13A2 | c.*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 |
| 1 | g.16986023C>A | CA338230454 | ATP13A2 | c.*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) | |
| 1 | g.16986023C>G | CA338230453 | ATP13A2 | c.*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) | |
| 1 | g.16986023C>T | CA338230452 | ATP13A2 | c.*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) | |
| 1 | g.16986025C>A | CA338230456 | ATP13A2 | c.*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) | |
| 1 | g.16986025C= | CA1156048631 | ATP13A2 | c.*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=) | |
| 1 | g.16986025C>G | CA338230458 | ATP13A2 | c.*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) | |
| 1 | g.16986025C>T | CA338230459 | ATP13A2 | c.*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 |
| 1 | g.16986026C>A | CA338230460 | ATP13A2 | c.*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) | |
| 1 | g.16986026C= | CA1156048644 | ATP13A2 | c.*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=) | |
| 1 | g.16986026C>G | CA338230461 | ATP13A2 | c.*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 |
| 1 | g.16986026C>T | CA338230462 | ATP13A2 | c.*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 |
| 1 | g.16986027C>A | CA338230463 | ATP13A2 | c.*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 |
| 1 | g.16986027C>G | CA338230464 | ATP13A2 | c.*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) | |
| 1 | g.16986028C>A | CA338230465 | ATP13A2 | c.*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 |
| 1 | g.16986028C= | CA1156048648 | ATP13A2 | c.*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=) | |
| 1 | g.16986028C>G | CA338230467 | ATP13A2 | c.*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) | |
| 1 | g.16986028C>T | CA338230468 | ATP13A2 | c.*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 |
| 1 | g.16986029T>A | CA338230469 | ATP13A2 | c.*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) | |
| 1 | g.16986029T>C | CA338230471 | ATP13A2 | c.*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) | |
| 1 | g.16986030A>C | CA2742637999 | ATP13A2 | c.*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=) | |
| 1 | g.16986030A>G | CA2643667553 | ATP13A2 | c.*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 |
| 1 | g.16986031C>A | CA18624245 | ATP13A2 | c.*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 |
| 1 | g.16986031C= | CA1146496101 | ATP13A2 | c.*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=) | |
| 1 | g.16986031C>G | CA338230474 | ATP13A2 | c.*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) | |
| 1 | g.16986031C>T | CA636410 | ATP13A2 | c.*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 |
| 1 | g.16986032G>A | CA18624254 | ATP13A2 | c.*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 |
| 1 | g.16986032G>C | CA338230480 | ATP13A2 | c.*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) | |
| 1 | g.16986032G= | CA1156048655 | ATP13A2 | c.*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=) | |
| 1 | g.16986032G>T | CA338230481 | ATP13A2 | c.*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 |
| 1 | g.16986033C= | CA1156048661 | ATP13A2 | c.*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=) | |
| 1 | g.16986033C>T | CA636411 | ATP13A2 | c.*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 |
| 1 | g.16986034G>A | CA338230484 | ATP13A2 | c.*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 |
| 1 | g.16986034G>C | CA338230485 | ATP13A2 | c.*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) | |
| 1 | g.16986034G= | CA1156048666 | ATP13A2 | c.*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=) | |
| 1 | g.16986034G>T | CA338230487 | ATP13A2 | c.*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 |
| 1 | g.16986035G>A | CA338230488 | ATP13A2 | c.*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) | |
| 1 | g.16986035G>C | CA338230490 | ATP13A2 | c.*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) | |
| 1 | g.16986035G>T | CA338230491 | ATP13A2 | c.*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) | |
| 1 | g.16986036G>A | CA645512527 | ATP13A2 | c.*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 |
| 1 | g.16986036G>C | CA338230493 | ATP13A2 | c.*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) | |
| 1 | g.16986036G= | CA1156048674 | ATP13A2 | c.*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=) | |
| 1 | g.16986037A>C | CA338230496 | ATP13A2 | c.*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) | |
| 1 | g.16986037A>G | CA338230497 | ATP13A2 | c.*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) | |
| 1 | g.16986037A>T | CA338230495 | ATP13A2 | c.*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) | |
| 1 | g.16986038T>A | CA338230498 | ATP13A2 | c.*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) | |
| 1 | g.16986038T>C | CA338230499 | ATP13A2 | c.*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) | |
| 1 | g.16986038T>G | CA338230500 | ATP13A2 | c.*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) | |
| 1 | g.16986039G>A | CA18624260 | ATP13A2 | c.*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 |
| 1 | g.16986039G= | CA1156048681 | ATP13A2 | c.*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=) | |
| 1 | g.16986039G>T | CA2643667566 | ATP13A2 | c.*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 |
| 1 | g.16986040G>A | CA338230501 | ATP13A2 | c.*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) | |
| 1 | g.16986040G>C | CA338230502 | ATP13A2 | c.*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) | |
| 1 | g.16986040G>T | CA338230503 | ATP13A2 | c.*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 |
| 1 | g.16986041T>A | CA338230504 | ATP13A2 | c.*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) | |
| 1 | g.16986041T>C | CA338230505 | ATP13A2 | c.*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 |
| 1 | g.16986041T>G | CA338230506 | ATP13A2 | c.*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) | |
| 1 | g.16986041_16986042delinsTC | CA1156048687 | ATP13A2 | c.*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=) | |
| 1 | g.16986042C>A | CA338230507 | ATP13A2 | c.*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) | |
| 1 | g.16986042C>G | CA338230508 | ATP13A2 | c.*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 |
| 1 | g.16986042C>T | CA338230509 | ATP13A2 | c.*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) | |
| 1 | g.16986043del | CA999084888 | ATP13A2 | c.*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 |
| 1 | g.16986043C>A | CA338230514 | ATP13A2 | c.*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) | |
| 1 | g.16986043C= | CA1156048692 | ATP13A2 | c.*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=) | |
| 1 | g.16986043C>G | CA338230512 | ATP13A2 | c.*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) | |
| 1 | g.16986043C>T | CA338230511 | ATP13A2 | c.*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 |
| 1 | g.16986044A= | CA1156048695 | ATP13A2 | c.*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=) | |
| 1 | g.16986044A>C | CA338230516 | ATP13A2 | c.*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 |
| 1 | g.16986044A>G | CA338230517 | ATP13A2 | c.*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 |
| 1 | g.16986044A>T | CA338230518 | ATP13A2 | c.*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) | |
| 1 | g.16986046G>A | CA338230520 | ATP13A2 | c.*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) | |
| 1 | g.16986046G>C | CA338230521 | ATP13A2 | c.*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) | |
| 1 | g.16986046G>T | CA338230522 | ATP13A2 | c.*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 |
| 1 | g.16986047G>A | CA338230523 | ATP13A2 | c.*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) | |
| 1 | g.16986047G>C | CA338230524 | ATP13A2 | c.*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) | |
| 1 | g.16986047G= | CA1156048700 | ATP13A2 | c.*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=) | |
| 1 | g.16986047G>T | CA338230525 | ATP13A2 | c.*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 |
| 1 | g.16986048T>A | CA1156048710 | ATP13A2 | c.*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 |
| 1 | g.16986048T>C | CA521027687 | ATP13A2 | c.*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 |
| 1 | g.16986048T>G | CA1156048714 | ATP13A2 | c.*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 |
| 1 | g.16986048T= | CA1156048704 | ATP13A2 | c.*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=) | |
| 1 | g.16986049A>C | CA338230526 | ATP13A2 | c.*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) | |
| 1 | g.16986049A>G | CA338230527 | ATP13A2 | c.*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) | |
| 1 | g.16986049A>T | CA338230528 | ATP13A2 | c.*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) | |
| 1 | g.16986050G>C | CA338230531 | ATP13A2 | c.*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) | |
| 1 | g.16986050G>T | CA338230532 | ATP13A2 | c.*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 |
| 1 | g.16986052_16986053del | CA2574234588 | ATP13A2 | c.*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 |