| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |