| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16985911G>A | CA2643667345 | gnomAD v4 | ||
| 1 | g.16985911G>T | CA2643667347 | gnomAD v4 | ||
| 1 | g.16985912C>A | CA2643667349 | gnomAD v4 | ||
| 1 | g.16985912C= | CA1156048464 | |||
| 1 | g.16985912C>T | CA18624117 | dbSNP gnomAD v4 | ||
| 1 | g.16985914G>A | CA2643667354 | gnomAD v4 | ||
| 1 | g.16985914G= | CA1156048466 | |||
| 1 | g.16985914G>T | CA1156048468 | dbSNP gnomAD v4 | ||
| 1 | g.16985915G>T | CA2643667357 | gnomAD v4 | ||
| 1 | g.16985916T>C | CA2643667360 | gnomAD v4 | ||
| 1 | g.16985916T>G | CA2643667361 | gnomAD v4 | ||
| 1 | g.16985916dup | CA2643667359 | gnomAD v4 | ||
| 1 | g.16985917G>A | CA1156048472 | dbSNP gnomAD v4 | ||
| 1 | g.16985917G= | CA1156048471 | |||
| 1 | g.16985917G>T | CA2643667364 | gnomAD v4 | ||
| 1 | g.16985918_16985919del | CA2643667363 | gnomAD v4 | ||
| 1 | g.16985918G>A | CA1156048477 | dbSNP | ||
| 1 | g.16985918G= | CA1156048474 | |||
| 1 | g.16985918G>T | CA2643667365 | gnomAD v4 | ||
| 1 | g.16985919G>A | CA2643667366 | gnomAD v4 | ||
| 1 | g.16985919G>T | CA2643667367 | gnomAD v4 | ||
| 1 | g.16985920A>C | CA2643667369 | gnomAD v4 | ||
| 1 | g.16985920A>G | CA2643667371 | gnomAD v4 | ||
| 1 | g.16985921G>A | CA2643667373 | gnomAD v4 | ||
| 1 | g.16985921G= | CA1156048480 | |||
| 1 | g.16985921G>T | CA890928123 | dbSNP gnomAD v4 | ||
| 1 | g.16985922G>A | CA2643667377 | gnomAD v4 | ||
| 1 | g.16985922G= | CA1156048482 | |||
| 1 | g.16985922G>T | CA1156048481 | dbSNP gnomAD v4 | ||
| 1 | g.16985923G>A | CA2643667378 | gnomAD v4 | ||
| 1 | g.16985923G>T | CA2643667379 | gnomAD v4 | ||
| 1 | g.16985924T>C | CA2643667380 | gnomAD v4 | ||
| 1 | g.16985924T>G | CA999084842 | dbSNP gnomAD v3 gnomAD v4 | ||
| 1 | g.16985924T= | CA1156048483 | |||
| 1 | g.16985925C>A | CA2643667381 | gnomAD v4 | ||
| 1 | g.16985925C>G | CA2643667382 | gnomAD v4 | ||
| 1 | g.16985926T>C | CA2643667383 | gnomAD v4 | ||
| 1 | g.16985927A= | CA1156048485 | |||
| 1 | g.16985927A>C | CA2742637994 | |||
| 1 | g.16985927A>G | CA890928124 | dbSNP gnomAD v4 | ||
| 1 | g.16985927A>T | CA1156048491 | dbSNP gnomAD v3 gnomAD v4 | ||
| 1 | g.16985928T>C | CA1156048497 | dbSNP gnomAD v4 | ||
| 1 | g.16985928T= | CA1156048495 | |||
| 1 | g.16985929G>T | CA2643667385 | gnomAD v4 | ||
| 1 | g.16985930G>A | CA2742637995 | |||
| 1 | g.16985930G>C | CA2643667386 | gnomAD v4 | ||
| 1 | g.16985930G>T | CA2643667387 | gnomAD v4 | ||
| 1 | g.16985931T>C | CA2643667389 | gnomAD v4 | ||
| 1 | g.16985932G>A | CA2643667390 | gnomAD v4 | ||
| 1 | g.16985932G>C | CA2643667391 | gnomAD v4 | ||
| 1 | g.16985932G>T | CA2643667392 | gnomAD v4 | ||
| 1 | g.16985933C>A | CA2643667394 | gnomAD v4 | ||
| 1 | g.16985933C= | CA1156048500 | |||
| 1 | g.16985933C>T | CA890928126 | dbSNP gnomAD v3 gnomAD v4 | ||
| 1 | g.16985935A= | CA1156048503 | |||
| 1 | g.16985935A>G | CA521027681 | dbSNP gnomAD v2 gnomAD v4 | ||
| 1 | g.16985936G>A | CA2574234072 | gnomAD v4 | ||
| 1 | g.16985936G>T | CA2643667395 | gnomAD v4 | ||
| 1 | g.16985937G>A | CA2574234075 | |||
| 1 | g.16985937G>T | CA2643667396 | gnomAD v4 | ||
| 1 | g.16985938T>C | CA2643667397 | gnomAD v4 | ||
| 1 | g.16985940C= | CA1156048505 | |||
| 1 | g.16985940C>T | CA521027682 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
| 1 | g.16985941A>C | CA2643667398 | gnomAD v4 | ||
| 1 | g.16985941A>G | CA2643667399 | dbSNP gnomAD v4 | ||
| 1 | g.16985943G>A | CA18624120 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
| 1 | g.16985943G= | CA1156048508 | |||
| 1 | g.16985943G>T | CA2643667400 | gnomAD v4 | ||
| 1 | g.16985944A>G | CA2574234077 | |||
| 1 | g.16985945C>A | CA2643667403 | gnomAD v4 | ||
| 1 | g.16985945C= | CA1156048511 | |||
| 1 | g.16985945C>G | CA1156048513 | dbSNP gnomAD v4 | ||
| 1 | g.16985945C>T | CA2574234080 | gnomAD v4 | ||
| 1 | g.16985946A>G | CA2643667404 | gnomAD v4 | ||
| 1 | g.16985947G>C | CA2643667405 | gnomAD v4 | ||
| 1 | g.16985947G>T | CA2643667406 | gnomAD v4 | ||
| 1 | g.16985948G>A | CA636400 | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 | ||
| 1 | g.16985948G= | CA1156048516 | |||
| 1 | g.16985948G>T | CA2643667408 | gnomAD v4 | ||
| 1 | g.16985949C>A | CA2643667410 | gnomAD v4 | ||
| 1 | g.16985949C>T | CA2643667411 | gnomAD v4 | ||
| 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 |