Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41984968T>A | CA406052312 | ATP1A3 | c.982A>T (p.Ile328Phe) c.943A>T (p.Ile315Phe) n.256A>T c.976A>T (p.Ile326Phe) c.853A>T (p.Ile285Phe) | ClinVar |
19 | g.41984968T>C | CA406052308 | ATP1A3 | c.982A>G (p.Ile328Val) c.943A>G (p.Ile315Val) n.256A>G c.976A>G (p.Ile326Val) c.853A>G (p.Ile285Val) | |
19 | g.41984968T>G | CA406052306 | ATP1A3 | c.982A>C (p.Ile328Leu) c.943A>C (p.Ile315Leu) n.256A>C c.976A>C (p.Ile326Leu) c.853A>C (p.Ile285Leu) | |
19 | g.41984969G>A | CA9467760 | ATP1A3 | c.981C>T (p.Leu327=) c.942C>T (p.Leu314=) n.255C>T c.975C>T (p.Leu325=) c.852C>T (p.Leu284=) | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.41984969G>C | CA507695398 | ATP1A3 | c.981C>G (p.Leu327=) c.942C>G (p.Leu314=) n.255C>G c.975C>G (p.Leu325=) c.852C>G (p.Leu284=) | |
19 | g.41984969G= | CA2336727988 | ATP1A3 | c.981C= (p.Leu327=) c.942C= (p.Leu314=) n.255C= c.975C= (p.Leu325=) c.852C= (p.Leu284=) | |
19 | g.41984969G>T | CA507695399 | ATP1A3 | c.981C>A (p.Leu327=) c.942C>A (p.Leu314=) n.255C>A c.975C>A (p.Leu325=) c.852C>A (p.Leu284=) | gnomAD v4 |
19 | g.41984970A>C | CA406052316 | ATP1A3 | c.980T>G (p.Leu327Arg) c.941T>G (p.Leu314Arg) n.254T>G c.974T>G (p.Leu325Arg) c.851T>G (p.Leu284Arg) | |
19 | g.41984970A>G | CA406052319 | ATP1A3 | c.980T>C (p.Leu327Pro) c.941T>C (p.Leu314Pro) n.254T>C c.974T>C (p.Leu325Pro) c.851T>C (p.Leu284Pro) | |
19 | g.41984970A>T | CA406052322 | ATP1A3 | c.980T>A (p.Leu327His) c.941T>A (p.Leu314His) n.254T>A c.974T>A (p.Leu325His) c.851T>A (p.Leu284His) | |
19 | g.41984971G>A | CA406052325 | ATP1A3 | c.979C>T (p.Leu327Phe) c.940C>T (p.Leu314Phe) n.253C>T c.973C>T (p.Leu325Phe) c.850C>T (p.Leu284Phe) | |
19 | g.41984971G>C | CA406052327 | ATP1A3 | c.979C>G (p.Leu327Val) c.940C>G (p.Leu314Val) n.253C>G c.973C>G (p.Leu325Val) c.850C>G (p.Leu284Val) | |
19 | g.41984971G>T | CA406052329 | ATP1A3 | c.979C>A (p.Leu327Ile) c.940C>A (p.Leu314Ile) n.253C>A c.973C>A (p.Leu325Ile) c.850C>A (p.Leu284Ile) | |
19 | g.41984972G>A | CA507695400 | ATP1A3 | c.978C>T (p.Phe326=) c.939C>T (p.Phe313=) n.252C>T c.972C>T (p.Phe324=) c.849C>T (p.Phe283=) | COSMIC |
19 | g.41984972G>C | CA406052332 | ATP1A3 | c.978C>G (p.Phe326Leu) c.939C>G (p.Phe313Leu) n.252C>G c.972C>G (p.Phe324Leu) c.849C>G (p.Phe283Leu) | |
19 | g.41984972G>T | CA406052335 | ATP1A3 | c.978C>A (p.Phe326Leu) c.939C>A (p.Phe313Leu) n.252C>A c.972C>A (p.Phe324Leu) c.849C>A (p.Phe283Leu) | |
19 | g.41984973A>C | CA406052337 | ATP1A3 | c.977T>G (p.Phe326Cys) c.938T>G (p.Phe313Cys) n.251T>G c.971T>G (p.Phe324Cys) c.848T>G (p.Phe283Cys) | |
19 | g.41984973A>G | CA406052340 | ATP1A3 | c.977T>C (p.Phe326Ser) c.938T>C (p.Phe313Ser) n.251T>C c.971T>C (p.Phe324Ser) c.848T>C (p.Phe283Ser) | |
19 | g.41984973A>T | CA406052341 | ATP1A3 | c.977T>A (p.Phe326Tyr) c.938T>A (p.Phe313Tyr) n.251T>A c.971T>A (p.Phe324Tyr) c.848T>A (p.Phe283Tyr) | |
19 | g.41984974A>C | CA406052349 | ATP1A3 | c.976T>G (p.Phe326Val) c.937T>G (p.Phe313Val) n.250T>G c.970T>G (p.Phe324Val) c.847T>G (p.Phe283Val) | |
19 | g.41984974A>G | CA406052345 | ATP1A3 | c.976T>C (p.Phe326Leu) c.937T>C (p.Phe313Leu) n.250T>C c.970T>C (p.Phe324Leu) c.847T>C (p.Phe283Leu) | |
19 | g.41984974A>T | CA406052347 | ATP1A3 | c.976T>A (p.Phe326Ile) c.937T>A (p.Phe313Ile) n.250T>A c.970T>A (p.Phe324Ile) c.847T>A (p.Phe283Ile) | |
19 | g.41984975G>A | CA507695401 | ATP1A3 | c.975C>T (p.Ile325=) c.936C>T (p.Ile312=) n.249C>T c.969C>T (p.Ile323=) c.846C>T (p.Ile282=) | |
19 | g.41984975G>C | CA406052351 | ATP1A3 | c.975C>G (p.Ile325Met) c.936C>G (p.Ile312Met) n.249C>G c.969C>G (p.Ile323Met) c.846C>G (p.Ile282Met) | |
19 | g.41984975G= | CA2336727989 | ATP1A3 | c.975C= (p.Ile325=) c.936C= (p.Ile312=) n.249C= c.969C= (p.Ile323=) c.846C= (p.Ile282=) | |
19 | g.41984975G>T | CA308597208 | ATP1A3 | c.975C>A (p.Ile325=) c.936C>A (p.Ile312=) n.249C>A c.969C>A (p.Ile323=) c.846C>A (p.Ile282=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41984976A>C | CA406052356 | ATP1A3 | c.974T>G (p.Ile325Ser) c.935T>G (p.Ile312Ser) n.248T>G c.968T>G (p.Ile323Ser) c.845T>G (p.Ile282Ser) | |
19 | g.41984976A>G | CA406052359 | ATP1A3 | c.974T>C (p.Ile325Thr) c.935T>C (p.Ile312Thr) n.248T>C c.968T>C (p.Ile323Thr) c.845T>C (p.Ile282Thr) | |
19 | g.41984976A>T | CA406052362 | ATP1A3 | c.974T>A (p.Ile325Asn) c.935T>A (p.Ile312Asn) n.248T>A c.968T>A (p.Ile323Asn) c.845T>A (p.Ile282Asn) | |
19 | g.41984977T>A | CA406052363 | ATP1A3 | c.973A>T (p.Ile325Phe) c.934A>T (p.Ile312Phe) n.247A>T c.967A>T (p.Ile323Phe) c.844A>T (p.Ile282Phe) | |
19 | g.41984977T>C | CA406052366 | ATP1A3 | c.973A>G (p.Ile325Val) c.934A>G (p.Ile312Val) n.247A>G c.967A>G (p.Ile323Val) c.844A>G (p.Ile282Val) | |
19 | g.41984977T>G | CA406052369 | ATP1A3 | c.973A>C (p.Ile325Leu) c.934A>C (p.Ile312Leu) n.247A>C c.967A>C (p.Ile323Leu) c.844A>C (p.Ile282Leu) | |
19 | g.41984978G>A | CA507695402 | ATP1A3 | c.972C>T (p.Val324=) c.933C>T (p.Val311=) n.246C>T c.966C>T (p.Val322=) c.843C>T (p.Val281=) | |
19 | g.41984978G>C | CA507695403 | ATP1A3 | c.972C>G (p.Val324=) c.933C>G (p.Val311=) n.246C>G c.966C>G (p.Val322=) c.843C>G (p.Val281=) | |
19 | g.41984978G= | CA2336727990 | ATP1A3 | c.972C= (p.Val324=) c.933C= (p.Val311=) n.246C= c.966C= (p.Val322=) c.843C= (p.Val281=) | |
19 | g.41984978G>T | CA507695404 | ATP1A3 | c.972C>A (p.Val324=) c.933C>A (p.Val311=) n.246C>A c.966C>A (p.Val322=) c.843C>A (p.Val281=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41984979A>C | CA406052372 | ATP1A3 | c.971T>G (p.Val324Gly) c.932T>G (p.Val311Gly) n.245T>G c.965T>G (p.Val322Gly) c.842T>G (p.Val281Gly) | |
19 | g.41984979A>G | CA406052375 | ATP1A3 | c.971T>C (p.Val324Ala) c.932T>C (p.Val311Ala) n.245T>C c.965T>C (p.Val322Ala) c.842T>C (p.Val281Ala) | |
19 | g.41984979A>T | CA406052377 | ATP1A3 | c.971T>A (p.Val324Asp) c.932T>A (p.Val311Asp) n.245T>A c.965T>A (p.Val322Asp) c.842T>A (p.Val281Asp) | |
19 | g.41984980C>A | CA406052384 | ATP1A3 | c.970G>T (p.Val324Phe) c.931G>T (p.Val311Phe) n.244G>T c.964G>T (p.Val322Phe) c.841G>T (p.Val281Phe) | |
19 | g.41984980C= | CA2336727991 | ATP1A3 | c.970G= (p.Val324=) c.931G= (p.Val311=) n.244G= c.964G= (p.Val322=) c.841G= (p.Val281=) | |
19 | g.41984980C>G | CA406052381 | ATP1A3 | c.970G>C (p.Val324Leu) c.931G>C (p.Val311Leu) n.244G>C c.964G>C (p.Val322Leu) c.841G>C (p.Val281Leu) | |
19 | g.41984980C>T | CA9467761 | ATP1A3 | c.970G>A (p.Val324Ile) c.931G>A (p.Val311Ile) n.244G>A c.964G>A (p.Val322Ile) c.841G>A (p.Val281Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41984981A>C | CA507695405 | ATP1A3 | c.969T>G (p.Ala323=) c.930T>G (p.Ala310=) n.243T>G c.963T>G (p.Ala321=) c.840T>G (p.Ala280=) | |
19 | g.41984981A>G | CA507695406 | ATP1A3 | c.969T>C (p.Ala323=) c.930T>C (p.Ala310=) n.243T>C c.963T>C (p.Ala321=) c.840T>C (p.Ala280=) | |
19 | g.41984981A>T | CA507695407 | ATP1A3 | c.969T>A (p.Ala323=) c.930T>A (p.Ala310=) n.243T>A c.963T>A (p.Ala321=) c.840T>A (p.Ala280=) | |
19 | g.41984982G>A | CA406052388 | ATP1A3 | c.968C>T (p.Ala323Val) c.929C>T (p.Ala310Val) n.242C>T c.962C>T (p.Ala321Val) c.839C>T (p.Ala280Val) | |
19 | g.41984982G>C | CA406052389 | ATP1A3 | c.968C>G (p.Ala323Gly) c.929C>G (p.Ala310Gly) n.242C>G c.962C>G (p.Ala321Gly) c.839C>G (p.Ala280Gly) | |
19 | g.41984982G>T | CA406052393 | ATP1A3 | c.968C>A (p.Ala323Asp) c.929C>A (p.Ala310Asp) n.242C>A c.962C>A (p.Ala321Asp) c.839C>A (p.Ala280Asp) | |
19 | g.41984983C>A | CA406052396 | ATP1A3 | c.967G>T (p.Ala323Ser) c.928G>T (p.Ala310Ser) n.241G>T c.961G>T (p.Ala321Ser) c.838G>T (p.Ala280Ser) | |
19 | g.41984983C>G | CA406052399 | ATP1A3 | c.967G>C (p.Ala323Pro) c.928G>C (p.Ala310Pro) n.241G>C c.961G>C (p.Ala321Pro) c.838G>C (p.Ala280Pro) | |
19 | g.41984983C>T | CA406052403 | ATP1A3 | c.967G>A (p.Ala323Thr) c.928G>A (p.Ala310Thr) n.241G>A c.961G>A (p.Ala321Thr) c.838G>A (p.Ala280Thr) | |
19 | g.41984984C>A | CA406052408 | ATP1A3 | c.966G>T (p.Glu322Asp) c.927G>T (p.Glu309Asp) n.240G>T c.960G>T (p.Glu320Asp) c.837G>T (p.Glu279Asp) | |
19 | g.41984984C= | CA2336727992 | ATP1A3 | c.966G= (p.Glu322=) c.927G= (p.Glu309=) n.240G= c.960G= (p.Glu320=) c.837G= (p.Glu279=) | |
19 | g.41984984C>G | CA406052406 | ATP1A3 | c.966G>C (p.Glu322Asp) c.927G>C (p.Glu309Asp) n.240G>C c.960G>C (p.Glu320Asp) c.837G>C (p.Glu279Asp) | |
19 | g.41984984C>T | CA507695408 | ATP1A3 | c.966G>A (p.Glu322=) c.927G>A (p.Glu309=) n.240G>A c.960G>A (p.Glu320=) c.837G>A (p.Glu279=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41984985T>A | CA406052410 | ATP1A3 | c.965A>T (p.Glu322Val) c.926A>T (p.Glu309Val) n.239A>T c.959A>T (p.Glu320Val) c.836A>T (p.Glu279Val) | |
19 | g.41984985T>C | CA406052411 | ATP1A3 | c.965A>G (p.Glu322Gly) c.926A>G (p.Glu309Gly) n.239A>G c.959A>G (p.Glu320Gly) c.836A>G (p.Glu279Gly) | |
19 | g.41984985T>G | CA406052413 | ATP1A3 | c.965A>C (p.Glu322Ala) c.926A>C (p.Glu309Ala) n.239A>C c.959A>C (p.Glu320Ala) c.836A>C (p.Glu279Ala) | |
19 | g.41984986C>A | CA406052416 | ATP1A3 | c.964G>T (p.Glu322Ter) c.925G>T (p.Glu309Ter) n.238G>T c.958G>T (p.Glu320Ter) c.835G>T (p.Glu279Ter) | |
19 | g.41984986C>G | CA406052419 | ATP1A3 | c.964G>C (p.Glu322Gln) c.925G>C (p.Glu309Gln) n.238G>C c.958G>C (p.Glu320Gln) c.835G>C (p.Glu279Gln) | |
19 | g.41984986C>T | CA406052420 | ATP1A3 | c.964G>A (p.Glu322Lys) c.925G>A (p.Glu309Lys) n.238G>A c.958G>A (p.Glu320Lys) c.835G>A (p.Glu279Lys) | dbSNP |
19 | g.41984987A>C | CA507695409 | ATP1A3 | c.963T>G (p.Leu321=) c.924T>G (p.Leu308=) n.237T>G c.957T>G (p.Leu319=) c.834T>G (p.Leu278=) | |
19 | g.41984987A>G | CA507695410 | ATP1A3 | c.963T>C (p.Leu321=) c.924T>C (p.Leu308=) n.237T>C c.957T>C (p.Leu319=) c.834T>C (p.Leu278=) | |
19 | g.41984987A>T | CA507695411 | ATP1A3 | c.963T>A (p.Leu321=) c.924T>A (p.Leu308=) n.237T>A c.957T>A (p.Leu319=) c.834T>A (p.Leu278=) | gnomAD v4 |
19 | g.41984988A>C | CA406052427 | ATP1A3 | c.962T>G (p.Leu321Arg) c.923T>G (p.Leu308Arg) n.236T>G c.956T>G (p.Leu319Arg) c.833T>G (p.Leu278Arg) | |
19 | g.41984988A>G | CA406052423 | ATP1A3 | c.962T>C (p.Leu321Pro) c.923T>C (p.Leu308Pro) n.236T>C c.956T>C (p.Leu319Pro) c.833T>C (p.Leu278Pro) | |
19 | g.41984988A>T | CA406052425 | ATP1A3 | c.962T>A (p.Leu321His) c.923T>A (p.Leu308His) n.236T>A c.956T>A (p.Leu319His) c.833T>A (p.Leu278His) | |
19 | g.41984989G>A | CA406052429 | ATP1A3 | c.961C>T (p.Leu321Phe) c.922C>T (p.Leu308Phe) n.235C>T c.955C>T (p.Leu319Phe) c.832C>T (p.Leu278Phe) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41984989G>C | CA406052431 | ATP1A3 | c.961C>G (p.Leu321Val) c.922C>G (p.Leu308Val) n.235C>G c.955C>G (p.Leu319Val) c.832C>G (p.Leu278Val) | |
19 | g.41984989G= | CA2336727993 | ATP1A3 | c.961C= (p.Leu321=) c.922C= (p.Leu308=) n.235C= c.955C= (p.Leu319=) c.832C= (p.Leu278=) | |
19 | g.41984989G>T | CA406052434 | ATP1A3 | c.961C>A (p.Leu321Ile) c.922C>A (p.Leu308Ile) n.235C>A c.955C>A (p.Leu319Ile) c.832C>A (p.Leu278Ile) | |
19 | g.41984990C>A | CA406052437 | ATP1A3 | c.960G>T (p.Trp320Cys) c.921G>T (p.Trp307Cys) n.234G>T c.954G>T (p.Trp318Cys) c.831G>T (p.Trp277Cys) | |
19 | g.41984990C>G | CA406052440 | ATP1A3 | c.960G>C (p.Trp320Cys) c.921G>C (p.Trp307Cys) n.234G>C c.954G>C (p.Trp318Cys) c.831G>C (p.Trp277Cys) | |
19 | g.41984990C>T | CA406052442 | ATP1A3 | c.960G>A (p.Trp320Ter) c.921G>A (p.Trp307Ter) n.234G>A c.954G>A (p.Trp318Ter) c.831G>A (p.Trp277Ter) | |
19 | g.41984991C>A | CA406052444 | ATP1A3 | c.959G>T (p.Trp320Leu) c.920G>T (p.Trp307Leu) n.233G>T c.953G>T (p.Trp318Leu) c.830G>T (p.Trp277Leu) | |
19 | g.41984991C>G | CA406052447 | ATP1A3 | c.959G>C (p.Trp320Ser) c.920G>C (p.Trp307Ser) n.233G>C c.953G>C (p.Trp318Ser) c.830G>C (p.Trp277Ser) | |
19 | g.41984991C>T | CA406052450 | ATP1A3 | c.959G>A (p.Trp320Ter) c.920G>A (p.Trp307Ter) n.233G>A c.953G>A (p.Trp318Ter) c.830G>A (p.Trp277Ter) | |
19 | g.41984992A>C | CA406052453 | ATP1A3 | c.958T>G (p.Trp320Gly) c.919T>G (p.Trp307Gly) n.232T>G c.952T>G (p.Trp318Gly) c.829T>G (p.Trp277Gly) | |
19 | g.41984992A>G | CA406052456 | ATP1A3 | c.958T>C (p.Trp320Arg) c.919T>C (p.Trp307Arg) n.232T>C c.952T>C (p.Trp318Arg) c.829T>C (p.Trp277Arg) | |
19 | g.41984992A>T | CA406052457 | ATP1A3 | c.958T>A (p.Trp320Arg) c.919T>A (p.Trp307Arg) n.232T>A c.952T>A (p.Trp318Arg) c.829T>A (p.Trp277Arg) | |
19 | g.41984993G>A | CA507695413 | ATP1A3 | c.957C>T (p.Thr319=) c.918C>T (p.Thr306=) n.231C>T c.951C>T (p.Thr317=) c.828C>T (p.Thr276=) | gnomAD v4 |
19 | g.41984993G>C | CA507695414 | ATP1A3 | c.957C>G (p.Thr319=) c.918C>G (p.Thr306=) n.231C>G c.951C>G (p.Thr317=) c.828C>G (p.Thr276=) | ClinVar dbSNP |
19 | g.41984993G= | CA2336727994 | ATP1A3 | c.957C= (p.Thr319=) c.918C= (p.Thr306=) n.231C= c.951C= (p.Thr317=) c.828C= (p.Thr276=) | |
19 | g.41984993G>T | CA507695412 | ATP1A3 | c.957C>A (p.Thr319=) c.918C>A (p.Thr306=) n.231C>A c.951C>A (p.Thr317=) c.828C>A (p.Thr276=) | |
19 | g.41984994G>A | CA406052460 | ATP1A3 | c.956C>T (p.Thr319Ile) c.917C>T (p.Thr306Ile) n.230C>T c.950C>T (p.Thr317Ile) c.827C>T (p.Thr276Ile) | |
19 | g.41984994G>C | CA406052465 | ATP1A3 | c.956C>G (p.Thr319Ser) c.917C>G (p.Thr306Ser) n.230C>G c.950C>G (p.Thr317Ser) c.827C>G (p.Thr276Ser) | |
19 | g.41984994G>T | CA406052463 | ATP1A3 | c.956C>A (p.Thr319Asn) c.917C>A (p.Thr306Asn) n.230C>A c.950C>A (p.Thr317Asn) c.827C>A (p.Thr276Asn) | |
19 | g.41984995T>A | CA406052468 | ATP1A3 | c.955A>T (p.Thr319Ser) c.916A>T (p.Thr306Ser) n.229A>T c.949A>T (p.Thr317Ser) c.826A>T (p.Thr276Ser) | |
19 | g.41984995T>C | CA406052469 | ATP1A3 | c.955A>G (p.Thr319Ala) c.916A>G (p.Thr306Ala) n.229A>G c.949A>G (p.Thr317Ala) c.826A>G (p.Thr276Ala) | |
19 | g.41984995T>G | CA406052472 | ATP1A3 | c.955A>C (p.Thr319Pro) c.916A>C (p.Thr306Pro) n.229A>C c.949A>C (p.Thr317Pro) c.826A>C (p.Thr276Pro) | |
19 | g.41984996G>A | CA9467762 | ATP1A3 | c.954C>T (p.Tyr318=) c.915C>T (p.Tyr305=) n.228C>T c.948C>T (p.Tyr316=) c.825C>T (p.Tyr275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41984996G>C | CA406052476 | ATP1A3 | c.954C>G (p.Tyr318Ter) c.915C>G (p.Tyr305Ter) n.228C>G c.948C>G (p.Tyr316Ter) c.825C>G (p.Tyr275Ter) | |
19 | g.41984996G= | CA2336727995 | ATP1A3 | c.954C= (p.Tyr318=) c.915C= (p.Tyr305=) n.228C= c.948C= (p.Tyr316=) c.825C= (p.Tyr275=) | |
19 | g.41984996G>T | CA406052478 | ATP1A3 | c.954C>A (p.Tyr318Ter) c.915C>A (p.Tyr305Ter) n.228C>A c.948C>A (p.Tyr316Ter) c.825C>A (p.Tyr275Ter) | |
19 | g.41984997T>A | CA406052481 | ATP1A3 | c.953A>T (p.Tyr318Phe) c.914A>T (p.Tyr305Phe) n.227A>T c.947A>T (p.Tyr316Phe) c.824A>T (p.Tyr275Phe) | |
19 | g.41984997T>C | CA406052484 | ATP1A3 | c.953A>G (p.Tyr318Cys) c.914A>G (p.Tyr305Cys) n.227A>G c.947A>G (p.Tyr316Cys) c.824A>G (p.Tyr275Cys) | |
19 | g.41984997T>G | CA406052487 | ATP1A3 | c.953A>C (p.Tyr318Ser) c.914A>C (p.Tyr305Ser) n.227A>C c.947A>C (p.Tyr316Ser) c.824A>C (p.Tyr275Ser) | |
19 | g.41984998A>C | CA406052488 | ATP1A3 | c.952T>G (p.Tyr318Asp) c.913T>G (p.Tyr305Asp) n.226T>G c.946T>G (p.Tyr316Asp) c.823T>G (p.Tyr275Asp) | |
19 | g.41984998A>G | CA406052490 | ATP1A3 | c.952T>C (p.Tyr318His) c.913T>C (p.Tyr305His) n.226T>C c.946T>C (p.Tyr316His) c.823T>C (p.Tyr275His) | |
19 | g.41984998A>T | CA406052493 | ATP1A3 | c.952T>A (p.Tyr318Asn) c.913T>A (p.Tyr305Asn) n.226T>A c.946T>A (p.Tyr316Asn) c.823T>A (p.Tyr275Asn) | |
19 | g.41984999T>A | CA507695415 | ATP1A3 | c.951A>T (p.Gly317=) c.912A>T (p.Gly304=) n.225A>T c.945A>T (p.Gly315=) c.822A>T (p.Gly274=) | |
19 | g.41984999T>C | CA507695417 | ATP1A3 | c.951A>G (p.Gly317=) c.912A>G (p.Gly304=) n.225A>G c.945A>G (p.Gly315=) c.822A>G (p.Gly274=) | |
19 | g.41984999T>G | CA507695416 | ATP1A3 | c.951A>C (p.Gly317=) c.912A>C (p.Gly304=) n.225A>C c.945A>C (p.Gly315=) c.822A>C (p.Gly274=) | |
19 | g.41985000C>A | CA406052499 | ATP1A3 | c.950G>T (p.Gly317Val) c.911G>T (p.Gly304Val) n.224G>T c.944G>T (p.Gly315Val) c.821G>T (p.Gly274Val) | COSMIC |
19 | g.41985000C>G | CA406052494 | ATP1A3 | c.950G>C (p.Gly317Ala) c.911G>C (p.Gly304Ala) n.224G>C c.944G>C (p.Gly315Ala) c.821G>C (p.Gly274Ala) | |
19 | g.41985000C>T | CA406052496 | ATP1A3 | c.950G>A (p.Gly317Glu) c.911G>A (p.Gly304Glu) n.224G>A c.944G>A (p.Gly315Glu) c.821G>A (p.Gly274Glu) | |
19 | g.41985001C>A | CA406052502 | ATP1A3 | c.949G>T (p.Gly317Ter) c.910G>T (p.Gly304Ter) n.223G>T c.943G>T (p.Gly315Ter) c.820G>T (p.Gly274Ter) | |
19 | g.41985001C= | CA2336727996 | ATP1A3 | c.949G= (p.Gly317=) c.910G= (p.Gly304=) n.223G= c.943G= (p.Gly315=) c.820G= (p.Gly274=) | |
19 | g.41985001C>G | CA406052505 | ATP1A3 | c.949G>C (p.Gly317Arg) c.910G>C (p.Gly304Arg) n.223G>C c.943G>C (p.Gly315Arg) c.820G>C (p.Gly274Arg) | |
19 | g.41985001C>T | CA308597221 | ATP1A3 | c.949G>A (p.Gly317Arg) c.910G>A (p.Gly304Arg) n.223G>A c.943G>A (p.Gly315Arg) c.820G>A (p.Gly274Arg) | ClinVar dbSNP |
19 | g.41985002G>A | CA9467763 | ATP1A3 | c.948C>T (p.Leu316=) c.909C>T (p.Leu303=) n.222C>T c.942C>T (p.Leu314=) c.819C>T (p.Leu273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985002G>C | CA9467764 | ATP1A3 | c.948C>G (p.Leu316=) c.909C>G (p.Leu303=) n.222C>G c.942C>G (p.Leu314=) c.819C>G (p.Leu273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985002G= | CA2336727997 | ATP1A3 | c.948C= (p.Leu316=) c.909C= (p.Leu303=) n.222C= c.942C= (p.Leu314=) c.819C= (p.Leu273=) | |
19 | g.41985002G>T | CA507695418 | ATP1A3 | c.948C>A (p.Leu316=) c.909C>A (p.Leu303=) n.222C>A c.942C>A (p.Leu314=) c.819C>A (p.Leu273=) | |
19 | g.41985003A>C | CA406052509 | ATP1A3 | c.947T>G (p.Leu316Arg) c.908T>G (p.Leu303Arg) n.221T>G c.941T>G (p.Leu314Arg) c.818T>G (p.Leu273Arg) | |
19 | g.41985003A>G | CA406052511 | ATP1A3 | c.947T>C (p.Leu316Pro) c.908T>C (p.Leu303Pro) n.221T>C c.941T>C (p.Leu314Pro) c.818T>C (p.Leu273Pro) | |
19 | g.41985003A>T | CA406052513 | ATP1A3 | c.947T>A (p.Leu316His) c.908T>A (p.Leu303His) n.221T>A c.941T>A (p.Leu314His) c.818T>A (p.Leu273His) | |
19 | g.41985004G>A | CA406052515 | ATP1A3 | c.946C>T (p.Leu316Phe) c.907C>T (p.Leu303Phe) n.220C>T c.940C>T (p.Leu314Phe) c.817C>T (p.Leu273Phe) | |
19 | g.41985004G>C | CA406052518 | ATP1A3 | c.946C>G (p.Leu316Val) c.907C>G (p.Leu303Val) n.220C>G c.940C>G (p.Leu314Val) c.817C>G (p.Leu273Val) | |
19 | g.41985004G>T | CA406052520 | ATP1A3 | c.946C>A (p.Leu316Ile) c.907C>A (p.Leu303Ile) n.220C>A c.940C>A (p.Leu314Ile) c.817C>A (p.Leu273Ile) | ClinVar |
19 | g.41985005A>C | CA406052522 | ATP1A3 | c.945T>G (p.Ile315Met) c.906T>G (p.Ile302Met) n.219T>G c.939T>G (p.Ile313Met) c.816T>G (p.Ile272Met) | |
19 | g.41985005A>G | CA507695419 | ATP1A3 | c.945T>C (p.Ile315=) c.906T>C (p.Ile302=) n.219T>C c.939T>C (p.Ile313=) c.816T>C (p.Ile272=) | |
19 | g.41985005A>T | CA507695420 | ATP1A3 | c.945T>A (p.Ile315=) c.906T>A (p.Ile302=) n.219T>A c.939T>A (p.Ile313=) c.816T>A (p.Ile272=) | |
19 | g.41985006A>C | CA406052529 | ATP1A3 | c.944T>G (p.Ile315Ser) c.905T>G (p.Ile302Ser) n.218T>G c.938T>G (p.Ile313Ser) c.815T>G (p.Ile272Ser) | |
19 | g.41985006A>G | CA406052530 | ATP1A3 | c.944T>C (p.Ile315Thr) c.905T>C (p.Ile302Thr) n.218T>C c.938T>C (p.Ile313Thr) c.815T>C (p.Ile272Thr) | |
19 | g.41985006A>T | CA406052525 | ATP1A3 | c.944T>A (p.Ile315Asn) c.905T>A (p.Ile302Asn) n.218T>A c.938T>A (p.Ile313Asn) c.815T>A (p.Ile272Asn) | |
19 | g.41985007T>A | CA406052534 | ATP1A3 | c.943A>T (p.Ile315Phe) c.904A>T (p.Ile302Phe) n.217A>T c.937A>T (p.Ile313Phe) c.814A>T (p.Ile272Phe) | |
19 | g.41985007T>C | CA9467765 | ATP1A3 | c.943A>G (p.Ile315Val) c.904A>G (p.Ile302Val) n.217A>G c.937A>G (p.Ile313Val) c.814A>G (p.Ile272Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985007T>G | CA406052537 | ATP1A3 | c.943A>C (p.Ile315Leu) c.904A>C (p.Ile302Leu) n.217A>C c.937A>C (p.Ile313Leu) c.814A>C (p.Ile272Leu) | |
19 | g.41985007T= | CA2336727998 | ATP1A3 | c.943A= (p.Ile315=) c.904A= (p.Ile302=) n.217A= c.937A= (p.Ile313=) c.814A= (p.Ile272=) | |
19 | g.41985008G>A | CA507695421 | ATP1A3 | c.942C>T (p.Leu314=) c.903C>T (p.Leu301=) n.216C>T c.936C>T (p.Leu312=) c.813C>T (p.Leu271=) | gnomAD v4 |
19 | g.41985008G>C | CA507695422 | ATP1A3 | c.942C>G (p.Leu314=) c.903C>G (p.Leu301=) n.216C>G c.936C>G (p.Leu312=) c.813C>G (p.Leu271=) | |
19 | g.41985008G>T | CA507695423 | ATP1A3 | c.942C>A (p.Leu314=) c.903C>A (p.Leu301=) n.216C>A c.936C>A (p.Leu312=) c.813C>A (p.Leu271=) | |
19 | g.41985009A>C | CA406052541 | ATP1A3 | c.941T>G (p.Leu314Arg) c.902T>G (p.Leu301Arg) n.215T>G c.935T>G (p.Leu312Arg) c.812T>G (p.Leu271Arg) | ClinVar |
19 | g.41985009A>G | CA406052546 | ATP1A3 | c.941T>C (p.Leu314Pro) c.902T>C (p.Leu301Pro) n.215T>C c.935T>C (p.Leu312Pro) c.812T>C (p.Leu271Pro) | |
19 | g.41985009A>T | CA406052544 | ATP1A3 | c.941T>A (p.Leu314His) c.902T>A (p.Leu301His) n.215T>A c.935T>A (p.Leu312His) c.812T>A (p.Leu271His) | |
19 | g.41985010G>A | CA406052548 | ATP1A3 | c.940C>T (p.Leu314Phe) c.901C>T (p.Leu301Phe) n.214C>T c.934C>T (p.Leu312Phe) c.811C>T (p.Leu271Phe) | |
19 | g.41985010G>C | CA406052550 | ATP1A3 | c.940C>G (p.Leu314Val) c.901C>G (p.Leu301Val) n.214C>G c.934C>G (p.Leu312Val) c.811C>G (p.Leu271Val) | |
19 | g.41985010G>T | CA406052552 | ATP1A3 | c.940C>A (p.Leu314Ile) c.901C>A (p.Leu301Ile) n.214C>A c.934C>A (p.Leu312Ile) c.811C>A (p.Leu271Ile) | |
19 | g.41985011G>A | CA507695424 | ATP1A3 | c.939C>T (p.Ser313=) c.900C>T (p.Ser300=) n.213C>T c.933C>T (p.Ser311=) c.810C>T (p.Ser270=) | COSMIC |
19 | g.41985011G>C | CA507695425 | ATP1A3 | c.939C>G (p.Ser313=) c.900C>G (p.Ser300=) n.213C>G c.933C>G (p.Ser311=) c.810C>G (p.Ser270=) | |
19 | g.41985011G>T | CA507695426 | ATP1A3 | c.939C>A (p.Ser313=) c.900C>A (p.Ser300=) n.213C>A c.933C>A (p.Ser311=) c.810C>A (p.Ser270=) | |
19 | g.41985012G>A | CA406052556 | ATP1A3 | c.938C>T (p.Ser313Phe) c.899C>T (p.Ser300Phe) n.212C>T c.932C>T (p.Ser311Phe) c.809C>T (p.Ser270Phe) | |
19 | g.41985012G>C | CA406052558 | ATP1A3 | c.938C>G (p.Ser313Cys) c.899C>G (p.Ser300Cys) n.212C>G c.932C>G (p.Ser311Cys) c.809C>G (p.Ser270Cys) | |
19 | g.41985012G>T | CA406052561 | ATP1A3 | c.938C>A (p.Ser313Tyr) c.899C>A (p.Ser300Tyr) n.212C>A c.932C>A (p.Ser311Tyr) c.809C>A (p.Ser270Tyr) | |
19 | g.41985013A>C | CA406052563 | ATP1A3 | c.937T>G (p.Ser313Ala) c.898T>G (p.Ser300Ala) n.211T>G c.931T>G (p.Ser311Ala) c.808T>G (p.Ser270Ala) | |
19 | g.41985013A>G | CA406052566 | ATP1A3 | c.937T>C (p.Ser313Pro) c.898T>C (p.Ser300Pro) n.211T>C c.931T>C (p.Ser311Pro) c.808T>C (p.Ser270Pro) | |
19 | g.41985013A>T | CA406052567 | ATP1A3 | c.937T>A (p.Ser313Thr) c.898T>A (p.Ser300Thr) n.211T>A c.931T>A (p.Ser311Thr) c.808T>A (p.Ser270Thr) | |
19 | g.41985014G>A | CA507695427 | ATP1A3 | c.936C>T (p.Leu312=) c.897C>T (p.Leu299=) n.210C>T c.930C>T (p.Leu310=) c.807C>T (p.Leu269=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985014G>C | CA507695429 | ATP1A3 | c.936C>G (p.Leu312=) c.897C>G (p.Leu299=) n.210C>G c.930C>G (p.Leu310=) c.807C>G (p.Leu269=) | |
19 | g.41985014G= | CA2336727999 | ATP1A3 | c.936C= (p.Leu312=) c.897C= (p.Leu299=) n.210C= c.930C= (p.Leu310=) c.807C= (p.Leu269=) | |
19 | g.41985014G>T | CA507695428 | ATP1A3 | c.936C>A (p.Leu312=) c.897C>A (p.Leu299=) n.210C>A c.930C>A (p.Leu310=) c.807C>A (p.Leu269=) | |
19 | g.41985015A>C | CA406052568 | ATP1A3 | c.935T>G (p.Leu312Arg) c.896T>G (p.Leu299Arg) n.209T>G c.929T>G (p.Leu310Arg) c.806T>G (p.Leu269Arg) | |
19 | g.41985015A>G | CA406052569 | ATP1A3 | c.935T>C (p.Leu312Pro) c.896T>C (p.Leu299Pro) n.209T>C c.929T>C (p.Leu310Pro) c.806T>C (p.Leu269Pro) | |
19 | g.41985015A>T | CA406052570 | ATP1A3 | c.935T>A (p.Leu312His) c.896T>A (p.Leu299His) n.209T>A c.929T>A (p.Leu310His) c.806T>A (p.Leu269His) | |
19 | g.41985016G>A | CA406052571 | ATP1A3 | c.934C>T (p.Leu312Phe) c.895C>T (p.Leu299Phe) n.208C>T c.928C>T (p.Leu310Phe) c.805C>T (p.Leu269Phe) | |
19 | g.41985016G>C | CA406052576 | ATP1A3 | c.934C>G (p.Leu312Val) c.895C>G (p.Leu299Val) n.208C>G c.928C>G (p.Leu310Val) c.805C>G (p.Leu269Val) | |
19 | g.41985016G>T | CA406052574 | ATP1A3 | c.934C>A (p.Leu312Ile) c.895C>A (p.Leu299Ile) n.208C>A c.928C>A (p.Leu310Ile) c.805C>A (p.Leu269Ile) | |
19 | g.41985017G>A | CA507695430 | ATP1A3 | c.933C>T (p.Ile311=) c.894C>T (p.Ile298=) n.207C>T c.927C>T (p.Ile309=) c.804C>T (p.Ile268=) | gnomAD v4 COSMIC |
19 | g.41985017G>C | CA406052579 | ATP1A3 | c.933C>G (p.Ile311Met) c.894C>G (p.Ile298Met) n.207C>G c.927C>G (p.Ile309Met) c.804C>G (p.Ile268Met) | gnomAD v4 |
19 | g.41985017G>T | CA507695431 | ATP1A3 | c.933C>A (p.Ile311=) c.894C>A (p.Ile298=) n.207C>A c.927C>A (p.Ile309=) c.804C>A (p.Ile268=) | |
19 | g.41985018A= | CA2336728000 | ATP1A3 | c.932T= (p.Ile311=) c.893T= (p.Ile298=) n.206T= c.926T= (p.Ile309=) c.803T= (p.Ile268=) | |
19 | g.41985018A>C | CA406052582 | ATP1A3 | c.932T>G (p.Ile311Ser) c.893T>G (p.Ile298Ser) n.206T>G c.926T>G (p.Ile309Ser) c.803T>G (p.Ile268Ser) | |
19 | g.41985018A>G | CA406052583 | ATP1A3 | c.932T>C (p.Ile311Thr) c.893T>C (p.Ile298Thr) n.206T>C c.926T>C (p.Ile309Thr) c.803T>C (p.Ile268Thr) | ClinVar dbSNP |
19 | g.41985018A>T | CA406052585 | ATP1A3 | c.932T>A (p.Ile311Asn) c.893T>A (p.Ile298Asn) n.206T>A c.926T>A (p.Ile309Asn) c.803T>A (p.Ile268Asn) | |
19 | g.41985019T>A | CA406052588 | ATP1A3 | c.931A>T (p.Ile311Phe) c.892A>T (p.Ile298Phe) n.205A>T c.925A>T (p.Ile309Phe) c.802A>T (p.Ile268Phe) | |
19 | g.41985019T>C | CA406052590 | ATP1A3 | c.931A>G (p.Ile311Val) c.892A>G (p.Ile298Val) n.205A>G c.925A>G (p.Ile309Val) c.802A>G (p.Ile268Val) | |
19 | g.41985019T>G | CA406052591 | ATP1A3 | c.931A>C (p.Ile311Leu) c.892A>C (p.Ile298Leu) n.205A>C c.925A>C (p.Ile309Leu) c.802A>C (p.Ile268Leu) | gnomAD v4 |
19 | g.41985019_41985022delinsTGAA | CA2336728001 | ATP1A3 | c.928_931delinsTTCA (p.Phe310=) c.889_892delinsTTCA (p.Phe297=) n.202_205delinsTTCA c.922_925delinsTTCA (p.Phe308=) c.799_802delinsTTCA (p.Phe267=) | |
19 | g.41985020G>A | CA308597228 | ATP1A3 | c.930C>T (p.Phe310=) c.891C>T (p.Phe297=) n.204C>T c.924C>T (p.Phe308=) c.801C>T (p.Phe267=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41985020G>C | CA406052593 | ATP1A3 | c.930C>G (p.Phe310Leu) c.891C>G (p.Phe297Leu) n.204C>G c.924C>G (p.Phe308Leu) c.801C>G (p.Phe267Leu) | |
19 | g.41985020G= | CA2336728002 | ATP1A3 | c.930C= (p.Phe310=) c.891C= (p.Phe297=) n.204C= c.924C= (p.Phe308=) c.801C= (p.Phe267=) | |
19 | g.41985020G>T | CA406052597 | ATP1A3 | c.930C>A (p.Phe310Leu) c.891C>A (p.Phe297Leu) n.204C>A c.924C>A (p.Phe308Leu) c.801C>A (p.Phe267Leu) | |
19 | g.41985024_41985026del | CA658658818 | ATP1A3 | c.928_930del (p.Phe310del) c.889_891del (p.Phe297del) n.202_204del c.922_924del (p.Phe308del) c.799_801del (p.Phe267del) | ClinVar dbSNP |
19 | g.41985021A= | CA2336728003 | ATP1A3 | c.929T= (p.Phe310=) c.890T= (p.Phe297=) n.203T= c.923T= (p.Phe308=) c.800T= (p.Phe267=) | |
19 | g.41985021A>C | CA406052604 | ATP1A3 | c.929T>G (p.Phe310Cys) c.890T>G (p.Phe297Cys) n.203T>G c.923T>G (p.Phe308Cys) c.800T>G (p.Phe267Cys) | |
19 | g.41985021A>G | CA406052602 | ATP1A3 | c.929T>C (p.Phe310Ser) c.890T>C (p.Phe297Ser) n.203T>C c.923T>C (p.Phe308Ser) c.800T>C (p.Phe267Ser) | dbSNP |
19 | g.41985021A>T | CA406052599 | ATP1A3 | c.929T>A (p.Phe310Tyr) c.890T>A (p.Phe297Tyr) n.203T>A c.923T>A (p.Phe308Tyr) c.800T>A (p.Phe267Tyr) | |
19 | g.41985022A>C | CA406052607 | ATP1A3 | c.928T>G (p.Phe310Val) c.889T>G (p.Phe297Val) n.202T>G c.922T>G (p.Phe308Val) c.799T>G (p.Phe267Val) | |
19 | g.41985022A>G | CA406052609 | ATP1A3 | c.928T>C (p.Phe310Leu) c.889T>C (p.Phe297Leu) n.202T>C c.922T>C (p.Phe308Leu) c.799T>C (p.Phe267Leu) | gnomAD v4 |
19 | g.41985022A>T | CA406052611 | ATP1A3 | c.928T>A (p.Phe310Ile) c.889T>A (p.Phe297Ile) n.202T>A c.922T>A (p.Phe308Ile) c.799T>A (p.Phe267Ile) | |
19 | g.41985023G>A | CA507695432 | ATP1A3 | c.927C>T (p.Phe309=) c.888C>T (p.Phe296=) n.201C>T c.921C>T (p.Phe307=) c.798C>T (p.Phe266=) | gnomAD v4 |
19 | g.41985023G>C | CA406052614 | ATP1A3 | c.927C>G (p.Phe309Leu) c.888C>G (p.Phe296Leu) n.201C>G c.921C>G (p.Phe307Leu) c.798C>G (p.Phe266Leu) | dbSNP |
19 | g.41985023G>T | CA406052617 | ATP1A3 | c.927C>A (p.Phe309Leu) c.888C>A (p.Phe296Leu) n.201C>A c.921C>A (p.Phe307Leu) c.798C>A (p.Phe266Leu) | |
19 | g.41985024A= | CA2336728004 | ATP1A3 | c.926T= (p.Phe309=) c.887T= (p.Phe296=) n.200T= c.920T= (p.Phe307=) c.797T= (p.Phe266=) | |
19 | g.41985024A>C | CA406052620 | ATP1A3 | c.926T>G (p.Phe309Cys) c.887T>G (p.Phe296Cys) n.200T>G c.920T>G (p.Phe307Cys) c.797T>G (p.Phe266Cys) | |
19 | g.41985024A>G | CA406052623 | ATP1A3 | c.926T>C (p.Phe309Ser) c.887T>C (p.Phe296Ser) n.200T>C c.920T>C (p.Phe307Ser) c.797T>C (p.Phe266Ser) | dbSNP |
19 | g.41985024A>T | CA406052624 | ATP1A3 | c.926T>A (p.Phe309Tyr) c.887T>A (p.Phe296Tyr) n.200T>A c.920T>A (p.Phe307Tyr) c.797T>A (p.Phe266Tyr) | |
19 | g.41985025A>C | CA406052626 | ATP1A3 | c.925T>G (p.Phe309Val) c.886T>G (p.Phe296Val) n.199T>G c.919T>G (p.Phe307Val) c.796T>G (p.Phe266Val) | |
19 | g.41985025A>G | CA406052627 | ATP1A3 | c.925T>C (p.Phe309Leu) c.886T>C (p.Phe296Leu) n.199T>C c.919T>C (p.Phe307Leu) c.796T>C (p.Phe266Leu) | |
19 | g.41985025A>T | CA406052629 | ATP1A3 | c.925T>A (p.Phe309Ile) c.886T>A (p.Phe296Ile) n.199T>A c.919T>A (p.Phe307Ile) c.796T>A (p.Phe266Ile) | |
19 | g.41985026G>A | CA507695433 | ATP1A3 | c.924C>T (p.Ser308=) c.885C>T (p.Ser295=) n.198C>T c.918C>T (p.Ser306=) c.795C>T (p.Ser265=) | |
19 | g.41985026G>C | CA507695434 | ATP1A3 | c.924C>G (p.Ser308=) c.885C>G (p.Ser295=) n.198C>G c.918C>G (p.Ser306=) c.795C>G (p.Ser265=) | |
19 | g.41985026G>T | CA507695435 | ATP1A3 | c.924C>A (p.Ser308=) c.885C>A (p.Ser295=) n.198C>A c.918C>A (p.Ser306=) c.795C>A (p.Ser265=) | |
19 | g.41985027G>A | CA406052636 | ATP1A3 | c.923C>T (p.Ser308Phe) c.884C>T (p.Ser295Phe) n.197C>T c.917C>T (p.Ser306Phe) c.794C>T (p.Ser265Phe) | |
19 | g.41985027G>C | CA406052633 | ATP1A3 | c.923C>G (p.Ser308Cys) c.884C>G (p.Ser295Cys) n.197C>G c.917C>G (p.Ser306Cys) c.794C>G (p.Ser265Cys) | |
19 | g.41985027G>T | CA406052631 | ATP1A3 | c.923C>A (p.Ser308Tyr) c.884C>A (p.Ser295Tyr) n.197C>A c.917C>A (p.Ser306Tyr) c.794C>A (p.Ser265Tyr) | |
19 | g.41985027_41985028delinsAC | CA645620114 | ATP1A3 | c.922_923delinsGT (p.Ser308Val) c.883_884delinsGT (p.Ser295Val) n.196_197delinsGT c.916_917delinsGT (p.Ser306Val) c.793_794delinsGT (p.Ser265Val) | COSMIC |
19 | g.41985028A>C | CA406052637 | ATP1A3 | c.922T>G (p.Ser308Ala) c.883T>G (p.Ser295Ala) n.196T>G c.916T>G (p.Ser306Ala) c.793T>G (p.Ser265Ala) | |
19 | g.41985028A>G | CA406052638 | ATP1A3 | c.922T>C (p.Ser308Pro) c.883T>C (p.Ser295Pro) n.196T>C c.916T>C (p.Ser306Pro) c.793T>C (p.Ser265Pro) | |
19 | g.41985028A>T | CA406052639 | ATP1A3 | c.922T>A (p.Ser308Thr) c.883T>A (p.Ser295Thr) n.196T>A c.916T>A (p.Ser306Thr) c.793T>A (p.Ser265Thr) | |
19 | g.41985029G>A | CA507695436 | ATP1A3 | c.921C>T (p.Val307=) c.882C>T (p.Val294=) n.195C>T c.915C>T (p.Val305=) c.792C>T (p.Val264=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.41985029G>C | CA507695437 | ATP1A3 | c.921C>G (p.Val307=) c.882C>G (p.Val294=) n.195C>G c.915C>G (p.Val305=) c.792C>G (p.Val264=) | ClinVar dbSNP |
19 | g.41985029G= | CA2336728005 | ATP1A3 | c.921C= (p.Val307=) c.882C= (p.Val294=) n.195C= c.915C= (p.Val305=) c.792C= (p.Val264=) | |
19 | g.41985029G>T | CA507695438 | ATP1A3 | c.921C>A (p.Val307=) c.882C>A (p.Val294=) n.195C>A c.915C>A (p.Val305=) c.792C>A (p.Val264=) | |
19 | g.41985030A>C | CA406052640 | ATP1A3 | c.920T>G (p.Val307Gly) c.881T>G (p.Val294Gly) n.194T>G c.914T>G (p.Val305Gly) c.791T>G (p.Val264Gly) | |
19 | g.41985030A>G | CA406052641 | ATP1A3 | c.920T>C (p.Val307Ala) c.881T>C (p.Val294Ala) n.194T>C c.914T>C (p.Val305Ala) c.791T>C (p.Val264Ala) | |
19 | g.41985030A>T | CA406052642 | ATP1A3 | c.920T>A (p.Val307Asp) c.881T>A (p.Val294Asp) n.194T>A c.914T>A (p.Val305Asp) c.791T>A (p.Val264Asp) | |
19 | g.41985031C>A | CA406052644 | ATP1A3 | c.919G>T (p.Val307Phe) c.880G>T (p.Val294Phe) n.193G>T c.913G>T (p.Val305Phe) c.790G>T (p.Val264Phe) | |
19 | g.41985031C>G | CA406052645 | ATP1A3 | c.919G>C (p.Val307Leu) c.880G>C (p.Val294Leu) n.193G>C c.913G>C (p.Val305Leu) c.790G>C (p.Val264Leu) | |
19 | g.41985031C>T | CA406052646 | ATP1A3 | c.919G>A (p.Val307Ile) c.880G>A (p.Val294Ile) n.193G>A c.913G>A (p.Val305Ile) c.790G>A (p.Val264Ile) | |
19 | g.41985032A= | CA2336728006 | ATP1A3 | c.918T= (p.Gly306=) c.879T= (p.Gly293=) n.192T= c.912T= (p.Gly304=) c.789T= (p.Gly263=) | |
19 | g.41985032A>C | CA507695439 | ATP1A3 | c.918T>G (p.Gly306=) c.879T>G (p.Gly293=) n.192T>G c.912T>G (p.Gly304=) c.789T>G (p.Gly263=) | |
19 | g.41985032A>G | CA9467766 | ATP1A3 | c.918T>C (p.Gly306=) c.879T>C (p.Gly293=) n.192T>C c.912T>C (p.Gly304=) c.789T>C (p.Gly263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985032A>T | CA507695440 | ATP1A3 | c.918T>A (p.Gly306=) c.879T>A (p.Gly293=) n.192T>A c.912T>A (p.Gly304=) c.789T>A (p.Gly263=) | |
19 | g.41985033C>A | CA406052648 | ATP1A3 | c.917G>T (p.Gly306Val) c.878G>T (p.Gly293Val) n.191G>T c.911G>T (p.Gly304Val) c.788G>T (p.Gly263Val) | |
19 | g.41985033C>G | CA406052649 | ATP1A3 | c.917G>C (p.Gly306Ala) c.878G>C (p.Gly293Ala) n.191G>C c.911G>C (p.Gly304Ala) c.788G>C (p.Gly263Ala) | |
19 | g.41985033C>T | CA406052651 | ATP1A3 | c.917G>A (p.Gly306Asp) c.878G>A (p.Gly293Asp) n.191G>A c.911G>A (p.Gly304Asp) c.788G>A (p.Gly263Asp) | |
19 | g.41985034C>A | CA406052655 | ATP1A3 | c.916G>T (p.Gly306Cys) c.877G>T (p.Gly293Cys) n.190G>T c.910G>T (p.Gly304Cys) c.787G>T (p.Gly263Cys) | |
19 | g.41985034C>G | CA406052657 | ATP1A3 | c.916G>C (p.Gly306Arg) c.877G>C (p.Gly293Arg) n.190G>C c.910G>C (p.Gly304Arg) c.787G>C (p.Gly263Arg) | |
19 | g.41985034C>T | CA406052653 | ATP1A3 | c.916G>A (p.Gly306Ser) c.877G>A (p.Gly293Ser) n.190G>A c.910G>A (p.Gly304Ser) c.787G>A (p.Gly263Ser) | |
19 | g.41985037_41985048del | CA2695228881 | ATP1A3 | c.905_916del (p.Ala302_Leu305del) c.866_877del (p.Ala289_Leu292del) n.179_190del c.899_910del (p.Ala300_Leu303del) c.776_787del (p.Ala259_Leu262del) | |
19 | g.41985035C>A | CA507695442 | ATP1A3 | c.915G>T (p.Leu305=) c.876G>T (p.Leu292=) n.189G>T c.909G>T (p.Leu303=) c.786G>T (p.Leu262=) | gnomAD v4 |
19 | g.41985035C>G | CA507695443 | ATP1A3 | c.915G>C (p.Leu305=) c.876G>C (p.Leu292=) n.189G>C c.909G>C (p.Leu303=) c.786G>C (p.Leu262=) | |
19 | g.41985035C>T | CA507695441 | ATP1A3 | c.915G>A (p.Leu305=) c.876G>A (p.Leu292=) n.189G>A c.909G>A (p.Leu303=) c.786G>A (p.Leu262=) | |
19 | g.41985036A>C | CA406052662 | ATP1A3 | c.914T>G (p.Leu305Arg) c.875T>G (p.Leu292Arg) n.188T>G c.908T>G (p.Leu303Arg) c.785T>G (p.Leu262Arg) | ClinVar dbSNP |
19 | g.41985036A>G | CA406052659 | ATP1A3 | c.914T>C (p.Leu305Pro) c.875T>C (p.Leu292Pro) n.188T>C c.908T>C (p.Leu303Pro) c.785T>C (p.Leu262Pro) | |
19 | g.41985036A>T | CA406052661 | ATP1A3 | c.914T>A (p.Leu305Gln) c.875T>A (p.Leu292Gln) n.188T>A c.908T>A (p.Leu303Gln) c.785T>A (p.Leu262Gln) | |
19 | g.41985037G>A | CA507695444 | ATP1A3 | c.913C>T (p.Leu305=) c.874C>T (p.Leu292=) n.187C>T c.907C>T (p.Leu303=) c.784C>T (p.Leu262=) | COSMIC |
19 | g.41985037G>C | CA406052663 | ATP1A3 | c.913C>G (p.Leu305Val) c.874C>G (p.Leu292Val) n.187C>G c.907C>G (p.Leu303Val) c.784C>G (p.Leu262Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41985037G= | CA2336728007 | ATP1A3 | c.913C= (p.Leu305=) c.874C= (p.Leu292=) n.187C= c.907C= (p.Leu303=) c.784C= (p.Leu262=) | |
19 | g.41985037G>T | CA406052665 | ATP1A3 | c.913C>A (p.Leu305Met) c.874C>A (p.Leu292Met) n.187C>A c.907C>A (p.Leu303Met) c.784C>A (p.Leu262Met) | |
19 | g.41985038G>A | CA507695445 | ATP1A3 | c.912C>T (p.Phe304=) c.873C>T (p.Phe291=) n.186C>T c.906C>T (p.Phe302=) c.783C>T (p.Phe261=) | COSMIC |
19 | g.41985038G>C | CA406052669 | ATP1A3 | c.912C>G (p.Phe304Leu) c.873C>G (p.Phe291Leu) n.186C>G c.906C>G (p.Phe302Leu) c.783C>G (p.Phe261Leu) | |
19 | g.41985038G>T | CA406052671 | ATP1A3 | c.912C>A (p.Phe304Leu) c.873C>A (p.Phe291Leu) n.186C>A c.906C>A (p.Phe302Leu) c.783C>A (p.Phe261Leu) | |
19 | g.41985039A>C | CA406052674 | ATP1A3 | c.911T>G (p.Phe304Cys) c.872T>G (p.Phe291Cys) n.185T>G c.905T>G (p.Phe302Cys) c.782T>G (p.Phe261Cys) | |
19 | g.41985039A>G | CA406052677 | ATP1A3 | c.911T>C (p.Phe304Ser) c.872T>C (p.Phe291Ser) n.185T>C c.905T>C (p.Phe302Ser) c.782T>C (p.Phe261Ser) | |
19 | g.41985039A>T | CA406052680 | ATP1A3 | c.911T>A (p.Phe304Tyr) c.872T>A (p.Phe291Tyr) n.185T>A c.905T>A (p.Phe302Tyr) c.782T>A (p.Phe261Tyr) | |
19 | g.41985040A>C | CA406052682 | ATP1A3 | c.910T>G (p.Phe304Val) c.871T>G (p.Phe291Val) n.184T>G c.904T>G (p.Phe302Val) c.781T>G (p.Phe261Val) | |
19 | g.41985040A>G | CA406052685 | ATP1A3 | c.910T>C (p.Phe304Leu) c.871T>C (p.Phe291Leu) n.184T>C c.904T>C (p.Phe302Leu) c.781T>C (p.Phe261Leu) | |
19 | g.41985040A>T | CA406052687 | ATP1A3 | c.910T>A (p.Phe304Ile) c.871T>A (p.Phe291Ile) n.184T>A c.904T>A (p.Phe302Ile) c.781T>A (p.Phe261Ile) | |
19 | g.41985041G>A | CA507695446 | ATP1A3 | c.909C>T (p.Val303=) c.870C>T (p.Val290=) n.183C>T c.903C>T (p.Val301=) c.780C>T (p.Val260=) | |
19 | g.41985041G>C | CA507695448 | ATP1A3 | c.909C>G (p.Val303=) c.870C>G (p.Val290=) n.183C>G c.903C>G (p.Val301=) c.780C>G (p.Val260=) | |
19 | g.41985041G>T | CA507695447 | ATP1A3 | c.909C>A (p.Val303=) c.870C>A (p.Val290=) n.183C>A c.903C>A (p.Val301=) c.780C>A (p.Val260=) | |
19 | g.41985041dup | CA2832575074 | ATP1A3 | c.909dup (p.Phe304LeufsTer19) c.870dup (p.Phe291LeufsTer19) n.183dup c.903dup (p.Phe302LeufsTer19) c.780dup (p.Phe261LeufsTer19) | |
19 | g.41985042A= | CA2336728008 | ATP1A3 | c.908T= (p.Val303=) c.869T= (p.Val290=) n.182T= c.902T= (p.Val301=) c.779T= (p.Val260=) | |
19 | g.41985042A>C | CA406052695 | ATP1A3 | c.908T>G (p.Val303Gly) c.869T>G (p.Val290Gly) n.182T>G c.902T>G (p.Val301Gly) c.779T>G (p.Val260Gly) | dbSNP |
19 | g.41985042A>G | CA406052691 | ATP1A3 | c.908T>C (p.Val303Ala) c.869T>C (p.Val290Ala) n.182T>C c.902T>C (p.Val301Ala) c.779T>C (p.Val260Ala) | |
19 | g.41985042A>T | CA406052692 | ATP1A3 | c.908T>A (p.Val303Asp) c.869T>A (p.Val290Asp) n.182T>A c.902T>A (p.Val301Asp) c.779T>A (p.Val260Asp) | |
19 | g.41985043C>A | CA406052698 | ATP1A3 | c.907G>T (p.Val303Phe) c.868G>T (p.Val290Phe) n.181G>T c.901G>T (p.Val301Phe) c.778G>T (p.Val260Phe) | |
19 | g.41985043C>G | CA406052699 | ATP1A3 | c.907G>C (p.Val303Leu) c.868G>C (p.Val290Leu) n.181G>C c.901G>C (p.Val301Leu) c.778G>C (p.Val260Leu) | gnomAD v4 |
19 | g.41985043C>T | CA406052702 | ATP1A3 | c.907G>A (p.Val303Ile) c.868G>A (p.Val290Ile) n.181G>A c.901G>A (p.Val301Ile) c.778G>A (p.Val260Ile) | |
19 | g.41985044A>C | CA507695449 | ATP1A3 | c.906T>G (p.Ala302=) c.867T>G (p.Ala289=) n.180T>G c.900T>G (p.Ala300=) c.777T>G (p.Ala259=) | |
19 | g.41985044A>G | CA507695450 | ATP1A3 | c.906T>C (p.Ala302=) c.867T>C (p.Ala289=) n.180T>C c.900T>C (p.Ala300=) c.777T>C (p.Ala259=) | |
19 | g.41985044A>T | CA507695451 | ATP1A3 | c.906T>A (p.Ala302=) c.867T>A (p.Ala289=) n.180T>A c.900T>A (p.Ala300=) c.777T>A (p.Ala259=) | |
19 | g.41985045G>A | CA406052705 | ATP1A3 | c.905C>T (p.Ala302Val) c.866C>T (p.Ala289Val) n.179C>T c.899C>T (p.Ala300Val) c.776C>T (p.Ala259Val) | |
19 | g.41985045G>C | CA406052708 | ATP1A3 | c.905C>G (p.Ala302Gly) c.866C>G (p.Ala289Gly) n.179C>G c.899C>G (p.Ala300Gly) c.776C>G (p.Ala259Gly) | |
19 | g.41985045G>T | CA406052709 | ATP1A3 | c.905C>A (p.Ala302Asp) c.866C>A (p.Ala289Asp) n.179C>A c.899C>A (p.Ala300Asp) c.776C>A (p.Ala259Asp) | |
19 | g.41985046C>A | CA406052711 | ATP1A3 | c.904G>T (p.Ala302Ser) c.865G>T (p.Ala289Ser) n.178G>T c.898G>T (p.Ala300Ser) c.775G>T (p.Ala259Ser) | |
19 | g.41985046C>G | CA406052712 | ATP1A3 | c.904G>C (p.Ala302Pro) c.865G>C (p.Ala289Pro) n.178G>C c.898G>C (p.Ala300Pro) c.775G>C (p.Ala259Pro) | |
19 | g.41985046C>T | CA406052715 | ATP1A3 | c.904G>A (p.Ala302Thr) c.865G>A (p.Ala289Thr) n.178G>A c.898G>A (p.Ala300Thr) c.775G>A (p.Ala259Thr) | |
19 | g.41985047C>A | CA507695452 | ATP1A3 | c.903G>T (p.Val301=) c.864G>T (p.Val288=) n.177G>T c.897G>T (p.Val299=) c.774G>T (p.Val258=) | |
19 | g.41985047C= | CA2336728009 | ATP1A3 | c.903G= (p.Val301=) c.864G= (p.Val288=) n.177G= c.897G= (p.Val299=) c.774G= (p.Val258=) | |
19 | g.41985047C>G | CA507695453 | ATP1A3 | c.903G>C (p.Val301=) c.864G>C (p.Val288=) n.177G>C c.897G>C (p.Val299=) c.774G>C (p.Val258=) | |
19 | g.41985047C>T | CA507695454 | ATP1A3 | c.903G>A (p.Val301=) c.864G>A (p.Val288=) n.177G>A c.897G>A (p.Val299=) c.774G>A (p.Val258=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41985048A>C | CA406052718 | ATP1A3 | c.902T>G (p.Val301Gly) c.863T>G (p.Val288Gly) n.176T>G c.896T>G (p.Val299Gly) c.773T>G (p.Val258Gly) | |
19 | g.41985048A>G | CA406052720 | ATP1A3 | c.902T>C (p.Val301Ala) c.863T>C (p.Val288Ala) n.176T>C c.896T>C (p.Val299Ala) c.773T>C (p.Val258Ala) | |
19 | g.41985048A>T | CA406052722 | ATP1A3 | c.902T>A (p.Val301Glu) c.863T>A (p.Val288Glu) n.176T>A c.896T>A (p.Val299Glu) c.773T>A (p.Val258Glu) | |
19 | g.41985049C>A | CA406052725 | ATP1A3 | c.901G>T (p.Val301Leu) c.862G>T (p.Val288Leu) n.175G>T c.895G>T (p.Val299Leu) c.772G>T (p.Val258Leu) | |
19 | g.41985049C= | CA2336728010 | ATP1A3 | c.901G= (p.Val301=) c.862G= (p.Val288=) n.175G= c.895G= (p.Val299=) c.772G= (p.Val258=) | |
19 | g.41985049C>G | CA9467768 | ATP1A3 | c.901G>C (p.Val301Leu) c.862G>C (p.Val288Leu) n.175G>C c.895G>C (p.Val299Leu) c.772G>C (p.Val258Leu) | dbSNP ExAC gnomAD v2 |
19 | g.41985049C>T | CA9467767 | ATP1A3 | c.901G>A (p.Val301Met) c.862G>A (p.Val288Met) n.175G>A c.895G>A (p.Val299Met) c.772G>A (p.Val258Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985050G>A | CA9467769 | ATP1A3 | c.900C>T (p.Gly300=) c.861C>T (p.Gly287=) n.174C>T c.894C>T (p.Gly298=) c.771C>T (p.Gly257=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985050G>C | CA507695455 | ATP1A3 | c.900C>G (p.Gly300=) c.861C>G (p.Gly287=) n.174C>G c.894C>G (p.Gly298=) c.771C>G (p.Gly257=) | |
19 | g.41985050G= | CA2336728011 | ATP1A3 | c.900C= (p.Gly300=) c.861C= (p.Gly287=) n.174C= c.894C= (p.Gly298=) c.771C= (p.Gly257=) | |
19 | g.41985050G>T | CA507695456 | ATP1A3 | c.900C>A (p.Gly300=) c.861C>A (p.Gly287=) n.174C>A c.894C>A (p.Gly298=) c.771C>A (p.Gly257=) | |
19 | g.41985051C>A | CA406052731 | ATP1A3 | c.899G>T (p.Gly300Val) c.860G>T (p.Gly287Val) n.173G>T c.893G>T (p.Gly298Val) c.770G>T (p.Gly257Val) | |
19 | g.41985051C>G | CA406052732 | ATP1A3 | c.899G>C (p.Gly300Ala) c.860G>C (p.Gly287Ala) n.173G>C c.893G>C (p.Gly298Ala) c.770G>C (p.Gly257Ala) | |
19 | g.41985051C>T | CA406052735 | ATP1A3 | c.899G>A (p.Gly300Asp) c.860G>A (p.Gly287Asp) n.173G>A c.893G>A (p.Gly298Asp) c.770G>A (p.Gly257Asp) | COSMIC |
19 | g.41985052dup | CA2840784590 | ATP1A3 | c.899dup (p.Val301ArgfsTer22) c.860dup (p.Val288ArgfsTer22) n.173dup c.893dup (p.Val299ArgfsTer22) c.770dup (p.Val258ArgfsTer22) | |
19 | g.41985052C>A | CA406052739 | ATP1A3 | c.898G>T (p.Gly300Cys) c.859G>T (p.Gly287Cys) n.172G>T c.892G>T (p.Gly298Cys) c.769G>T (p.Gly257Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41985052C= | CA2336728012 | ATP1A3 | c.898G= (p.Gly300=) c.859G= (p.Gly287=) n.172G= c.892G= (p.Gly298=) c.769G= (p.Gly257=) | |
19 | g.41985052C>G | CA406052743 | ATP1A3 | c.898G>C (p.Gly300Arg) c.859G>C (p.Gly287Arg) n.172G>C c.892G>C (p.Gly298Arg) c.769G>C (p.Gly257Arg) | |
19 | g.41985052C>T | CA406052746 | ATP1A3 | c.898G>A (p.Gly300Ser) c.859G>A (p.Gly287Ser) n.172G>A c.892G>A (p.Gly298Ser) c.769G>A (p.Gly257Ser) | ClinVar gnomAD v4 |
19 | g.41985053G>A | CA9467770 | ATP1A3 | c.897C>T (p.Thr299=) c.858C>T (p.Thr286=) n.171C>T c.891C>T (p.Thr297=) c.768C>T (p.Thr256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985053G>C | CA507695458 | ATP1A3 | c.897C>G (p.Thr299=) c.858C>G (p.Thr286=) n.171C>G c.891C>G (p.Thr297=) c.768C>G (p.Thr256=) | |
19 | g.41985053G= | CA2336728013 | ATP1A3 | c.897C= (p.Thr299=) c.858C= (p.Thr286=) n.171C= c.891C= (p.Thr297=) c.768C= (p.Thr256=) | |
19 | g.41985053G>T | CA507695459 | ATP1A3 | c.897C>A (p.Thr299=) c.858C>A (p.Thr286=) n.171C>A c.891C>A (p.Thr297=) c.768C>A (p.Thr256=) | |
19 | g.41985054G>A | CA406052751 | ATP1A3 | c.896C>T (p.Thr299Ile) c.857C>T (p.Thr286Ile) n.170C>T c.890C>T (p.Thr297Ile) c.767C>T (p.Thr256Ile) | |
19 | g.41985054G>C | CA406052753 | ATP1A3 | c.896C>G (p.Thr299Ser) c.857C>G (p.Thr286Ser) n.170C>G c.890C>G (p.Thr297Ser) c.767C>G (p.Thr256Ser) | |
19 | g.41985054G>T | CA406052755 | ATP1A3 | c.896C>A (p.Thr299Asn) c.857C>A (p.Thr286Asn) n.170C>A c.890C>A (p.Thr297Asn) c.767C>A (p.Thr256Asn) | |
19 | g.41985055T>A | CA406052758 | ATP1A3 | c.895A>T (p.Thr299Ser) c.856A>T (p.Thr286Ser) n.169A>T c.889A>T (p.Thr297Ser) c.766A>T (p.Thr256Ser) | |
19 | g.41985055T>C | CA406052760 | ATP1A3 | c.895A>G (p.Thr299Ala) c.856A>G (p.Thr286Ala) n.169A>G c.889A>G (p.Thr297Ala) c.766A>G (p.Thr256Ala) | |
19 | g.41985055T>G | CA406052765 | ATP1A3 | c.895A>C (p.Thr299Pro) c.856A>C (p.Thr286Pro) n.169A>C c.889A>C (p.Thr297Pro) c.766A>C (p.Thr256Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41985055T= | CA2336728014 | ATP1A3 | c.895A= (p.Thr299=) c.856A= (p.Thr286=) n.169A= c.889A= (p.Thr297=) c.766A= (p.Thr256=) | |
19 | g.41985056G>A | CA507695462 | ATP1A3 | c.894C>T (p.Ile298=) c.855C>T (p.Ile285=) n.168C>T c.888C>T (p.Ile296=) c.765C>T (p.Ile255=) | dbSNP |
19 | g.41985056G>C | CA406052767 | ATP1A3 | c.894C>G (p.Ile298Met) c.855C>G (p.Ile285Met) n.168C>G c.888C>G (p.Ile296Met) c.765C>G (p.Ile255Met) | |
19 | g.41985056G= | CA2336728015 | ATP1A3 | c.894C= (p.Ile298=) c.855C= (p.Ile285=) n.168C= c.888C= (p.Ile296=) c.765C= (p.Ile255=) | |
19 | g.41985056G>T | CA507695463 | ATP1A3 | c.894C>A (p.Ile298=) c.855C>A (p.Ile285=) n.168C>A c.888C>A (p.Ile296=) c.765C>A (p.Ile255=) | |
19 | g.41985057A>C | CA406052771 | ATP1A3 | c.893T>G (p.Ile298Ser) c.854T>G (p.Ile285Ser) n.167T>G c.887T>G (p.Ile296Ser) c.764T>G (p.Ile255Ser) | |
19 | g.41985057A>G | CA406052774 | ATP1A3 | c.893T>C (p.Ile298Thr) c.854T>C (p.Ile285Thr) n.167T>C c.887T>C (p.Ile296Thr) c.764T>C (p.Ile255Thr) | |
19 | g.41985057A>T | CA406052777 | ATP1A3 | c.893T>A (p.Ile298Asn) c.854T>A (p.Ile285Asn) n.167T>A c.887T>A (p.Ile296Asn) c.764T>A (p.Ile255Asn) | |
19 | g.41985058T>A | CA406052780 | ATP1A3 | c.892A>T (p.Ile298Phe) c.853A>T (p.Ile285Phe) n.166A>T c.886A>T (p.Ile296Phe) c.763A>T (p.Ile255Phe) | |
19 | g.41985058T>C | CA406052784 | ATP1A3 | c.892A>G (p.Ile298Val) c.853A>G (p.Ile285Val) n.166A>G c.886A>G (p.Ile296Val) c.763A>G (p.Ile255Val) | |
19 | g.41985058T>G | CA406052787 | ATP1A3 | c.892A>C (p.Ile298Leu) c.853A>C (p.Ile285Leu) n.166A>C c.886A>C (p.Ile296Leu) c.763A>C (p.Ile255Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41985058T= | CA2336728016 | ATP1A3 | c.892A= (p.Ile298=) c.853A= (p.Ile285=) n.166A= c.886A= (p.Ile296=) c.763A= (p.Ile255=) | |
19 | g.41985059G>A | CA9467771 | ATP1A3 | c.891C>T (p.Leu297=) c.852C>T (p.Leu284=) n.165C>T c.885C>T (p.Leu295=) c.762C>T (p.Leu254=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41985059G>C | CA507695464 | ATP1A3 | c.891C>G (p.Leu297=) c.852C>G (p.Leu284=) n.165C>G c.885C>G (p.Leu295=) c.762C>G (p.Leu254=) | |
19 | g.41985059G= | CA2336728017 | ATP1A3 | c.891C= (p.Leu297=) c.852C= (p.Leu284=) n.165C= c.885C= (p.Leu295=) c.762C= (p.Leu254=) | |
19 | g.41985059G>T | CA507695466 | ATP1A3 | c.891C>A (p.Leu297=) c.852C>A (p.Leu284=) n.165C>A c.885C>A (p.Leu295=) c.762C>A (p.Leu254=) | |
19 | g.41985060A>C | CA406052790 | ATP1A3 | c.890T>G (p.Leu297Arg) c.851T>G (p.Leu284Arg) n.164T>G c.884T>G (p.Leu295Arg) c.761T>G (p.Leu254Arg) | |
19 | g.41985060A>G | CA406052793 | ATP1A3 | c.890T>C (p.Leu297Pro) c.851T>C (p.Leu284Pro) n.164T>C c.884T>C (p.Leu295Pro) c.761T>C (p.Leu254Pro) | |
19 | g.41985060A>T | CA406052795 | ATP1A3 | c.890T>A (p.Leu297His) c.851T>A (p.Leu284His) n.164T>A c.884T>A (p.Leu295His) c.761T>A (p.Leu254His) | |
19 | g.41985061G>A | CA406052798 | ATP1A3 | c.889C>T (p.Leu297Phe) c.850C>T (p.Leu284Phe) n.163C>T c.883C>T (p.Leu295Phe) c.760C>T (p.Leu254Phe) | |
19 | g.41985061G>C | CA406052799 | ATP1A3 | c.889C>G (p.Leu297Val) c.850C>G (p.Leu284Val) n.163C>G c.883C>G (p.Leu295Val) c.760C>G (p.Leu254Val) | |
19 | g.41985061G>T | CA406052800 | ATP1A3 | c.889C>A (p.Leu297Ile) c.850C>A (p.Leu284Ile) n.163C>A c.883C>A (p.Leu295Ile) c.760C>A (p.Leu254Ile) | COSMIC |
19 | g.41985062C>A | CA406052804 | ATP1A3 | c.888G>T (p.Gln296His) c.849G>T (p.Gln283His) n.162G>T c.882G>T (p.Gln294His) c.759G>T (p.Gln253His) | |
19 | g.41985062C= | CA2336728018 | ATP1A3 | c.888G= (p.Gln296=) c.849G= (p.Gln283=) n.162G= c.882G= (p.Gln294=) c.759G= (p.Gln253=) | |
19 | g.41985062C>G | CA406052805 | ATP1A3 | c.888G>C (p.Gln296His) c.849G>C (p.Gln283His) n.162G>C c.882G>C (p.Gln294His) c.759G>C (p.Gln253His) | |
19 | g.41985062C>T | CA507695469 | ATP1A3 | c.888G>A (p.Gln296=) c.849G>A (p.Gln283=) n.162G>A c.882G>A (p.Gln294=) c.759G>A (p.Gln253=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41985063T>A | CA406052811 | ATP1A3 | c.887A>T (p.Gln296Leu) c.848A>T (p.Gln283Leu) n.161A>T c.881A>T (p.Gln294Leu) c.758A>T (p.Gln253Leu) | |
19 | g.41985063T>C | CA406052813 | ATP1A3 | c.887A>G (p.Gln296Arg) c.848A>G (p.Gln283Arg) n.161A>G c.881A>G (p.Gln294Arg) c.758A>G (p.Gln253Arg) | |
19 | g.41985063T>G | CA406052809 | ATP1A3 | c.887A>C (p.Gln296Pro) c.848A>C (p.Gln283Pro) n.161A>C c.881A>C (p.Gln294Pro) c.758A>C (p.Gln253Pro) | |
19 | g.41985064G>A | CA406052818 | ATP1A3 | c.886C>T (p.Gln296Ter) c.847C>T (p.Gln283Ter) n.160C>T c.880C>T (p.Gln294Ter) c.757C>T (p.Gln253Ter) | |
19 | g.41985064G>C | CA406052816 | ATP1A3 | c.886C>G (p.Gln296Glu) c.847C>G (p.Gln283Glu) n.160C>G c.880C>G (p.Gln294Glu) c.757C>G (p.Gln253Glu) | |
19 | g.41985064G>T | CA406052820 | ATP1A3 | c.886C>A (p.Gln296Lys) c.847C>A (p.Gln283Lys) n.160C>A c.880C>A (p.Gln294Lys) c.757C>A (p.Gln253Lys) | |
19 | g.41985065G>A | CA507695470 | ATP1A3 | c.885C>T (p.Ile295=) c.846C>T (p.Ile282=) n.159C>T c.879C>T (p.Ile293=) c.756C>T (p.Ile252=) | |
19 | g.41985065G>C | CA406052824 | ATP1A3 | c.885C>G (p.Ile295Met) c.846C>G (p.Ile282Met) n.159C>G c.879C>G (p.Ile293Met) c.756C>G (p.Ile252Met) | |
19 | g.41985065G>T | CA507695471 | ATP1A3 | c.885C>A (p.Ile295=) c.846C>A (p.Ile282=) n.159C>A c.879C>A (p.Ile293=) c.756C>A (p.Ile252=) | |
19 | g.41985066A>C | CA406052827 | ATP1A3 | c.884T>G (p.Ile295Ser) c.845T>G (p.Ile282Ser) n.158T>G c.878T>G (p.Ile293Ser) c.755T>G (p.Ile252Ser) | |
19 | g.41985066A>G | CA406052829 | ATP1A3 | c.884T>C (p.Ile295Thr) c.845T>C (p.Ile282Thr) n.158T>C c.878T>C (p.Ile293Thr) c.755T>C (p.Ile252Thr) | |
19 | g.41985066A>T | CA406052832 | ATP1A3 | c.884T>A (p.Ile295Asn) c.845T>A (p.Ile282Asn) n.158T>A c.878T>A (p.Ile293Asn) c.755T>A (p.Ile252Asn) | |
19 | g.41985067T>A | CA406052841 | ATP1A3 | c.883A>T (p.Ile295Phe) c.844A>T (p.Ile282Phe) c.754A>T n.157A>T c.877A>T (p.Ile293Phe) c.754A>T (p.Ile252Phe) | |
19 | g.41985067T>C | CA406052842 | ATP1A3 | c.883A>G (p.Ile295Val) c.844A>G (p.Ile282Val) c.754A>G n.157A>G c.877A>G (p.Ile293Val) c.754A>G (p.Ile252Val) | |
19 | g.41985067T>G | CA406052843 | ATP1A3 | c.883A>C (p.Ile295Leu) c.844A>C (p.Ile282Leu) c.754A>C n.157A>C c.877A>C (p.Ile293Leu) c.754A>C (p.Ile252Leu) | |
19 | g.41985068G>A | CA507695474 | ATP1A3 | c.882C>T (p.Phe294=) c.843C>T (p.Phe281=) c.753C>T (p.Phe251=) n.156C>T c.876C>T (p.Phe292=) | COSMIC |
19 | g.41985068G>C | CA406052844 | ATP1A3 | c.882C>G (p.Phe294Leu) c.843C>G (p.Phe281Leu) c.753C>G (p.Phe251Leu) n.156C>G c.876C>G (p.Phe292Leu) | |
19 | g.41985068G>T | CA406052845 | ATP1A3 | c.882C>A (p.Phe294Leu) c.843C>A (p.Phe281Leu) c.753C>A (p.Phe251Leu) n.156C>A c.876C>A (p.Phe292Leu) |