Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41988002C>A | CA507695535 | ATP1A3 | c.330G>T (p.Gly110=) c.291G>T (p.Gly97=) n.600G>T c.201G>T (p.Gly67=) c.324G>T (p.Gly108=) | |
19 | g.41988002C= | CA2336729279 | ATP1A3 | c.330G= (p.Gly110=) c.291G= (p.Gly97=) n.600G= c.201G= (p.Gly67=) c.324G= (p.Gly108=) | |
19 | g.41988002C>G | CA507695536 | ATP1A3 | c.330G>C (p.Gly110=) c.291G>C (p.Gly97=) n.600G>C c.201G>C (p.Gly67=) c.324G>C (p.Gly108=) | |
19 | g.41988002C>T | CA9467909 | ATP1A3 | c.330G>A (p.Gly110=) c.291G>A (p.Gly97=) n.600G>A c.201G>A (p.Gly67=) c.324G>A (p.Gly108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41988003C>A | CA406056317 | ATP1A3 | c.329G>T (p.Gly110Val) c.290G>T (p.Gly97Val) n.599G>T c.200G>T (p.Gly67Val) c.323G>T (p.Gly108Val) | |
19 | g.41988003C>G | CA406056319 | ATP1A3 | c.329G>C (p.Gly110Ala) c.290G>C (p.Gly97Ala) n.599G>C c.200G>C (p.Gly67Ala) c.323G>C (p.Gly108Ala) | |
19 | g.41988003C>T | CA406056322 | ATP1A3 | c.329G>A (p.Gly110Glu) c.290G>A (p.Gly97Glu) n.599G>A c.200G>A (p.Gly67Glu) c.323G>A (p.Gly108Glu) | |
19 | g.41988004C>A | CA406056324 | ATP1A3 | c.328G>T (p.Gly110Trp) c.289G>T (p.Gly97Trp) n.598G>T c.199G>T (p.Gly67Trp) c.322G>T (p.Gly108Trp) | |
19 | g.41988004C>G | CA406056328 | ATP1A3 | c.328G>C (p.Gly110Arg) c.289G>C (p.Gly97Arg) n.598G>C c.199G>C (p.Gly67Arg) c.322G>C (p.Gly108Arg) | |
19 | g.41988004C>T | CA406056326 | ATP1A3 | c.328G>A (p.Gly110Arg) c.289G>A (p.Gly97Arg) n.598G>A c.199G>A (p.Gly67Arg) c.322G>A (p.Gly108Arg) | gnomAD v4 |
19 | g.41988005G>A | CA9467910 | ATP1A3 | c.327C>T (p.Ile109=) c.288C>T (p.Ile96=) n.597C>T c.198C>T (p.Ile66=) c.321C>T (p.Ile107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41988005G>C | CA406056332 | ATP1A3 | c.327C>G (p.Ile109Met) c.288C>G (p.Ile96Met) n.597C>G c.198C>G (p.Ile66Met) c.321C>G (p.Ile107Met) | |
19 | g.41988005G= | CA2336729280 | ATP1A3 | c.327C= (p.Ile109=) c.288C= (p.Ile96=) n.597C= c.198C= (p.Ile66=) c.321C= (p.Ile107=) | |
19 | g.41988005G>T | CA507695538 | ATP1A3 | c.327C>A (p.Ile109=) c.288C>A (p.Ile96=) n.597C>A c.198C>A (p.Ile66=) c.321C>A (p.Ile107=) | |
19 | g.41988006A>C | CA406056335 | ATP1A3 | c.326T>G (p.Ile109Ser) c.287T>G (p.Ile96Ser) n.596T>G c.197T>G (p.Ile66Ser) c.320T>G (p.Ile107Ser) | |
19 | g.41988006A>G | CA406056338 | ATP1A3 | c.326T>C (p.Ile109Thr) c.287T>C (p.Ile96Thr) n.596T>C c.197T>C (p.Ile66Thr) c.320T>C (p.Ile107Thr) | |
19 | g.41988006A>T | CA406056340 | ATP1A3 | c.326T>A (p.Ile109Asn) c.287T>A (p.Ile96Asn) n.596T>A c.197T>A (p.Ile66Asn) c.320T>A (p.Ile107Asn) | |
19 | g.41988007T>A | CA406056341 | ATP1A3 | c.325A>T (p.Ile109Phe) c.286A>T (p.Ile96Phe) n.595A>T c.196A>T (p.Ile66Phe) c.319A>T (p.Ile107Phe) | |
19 | g.41988007T>C | CA406056342 | ATP1A3 | c.325A>G (p.Ile109Val) c.286A>G (p.Ile96Val) n.595A>G c.196A>G (p.Ile66Val) c.319A>G (p.Ile107Val) | |
19 | g.41988007T>G | CA406056344 | ATP1A3 | c.325A>C (p.Ile109Leu) c.286A>C (p.Ile96Leu) n.595A>C c.196A>C (p.Ile66Leu) c.319A>C (p.Ile107Leu) | |
19 | g.41988008C>A | CA406056348 | ATP1A3 | c.324G>T (p.Trp108Cys) c.285G>T (p.Trp95Cys) n.594G>T c.195G>T (p.Trp65Cys) c.318G>T (p.Trp106Cys) | |
19 | g.41988008C>G | CA406056350 | ATP1A3 | c.324G>C (p.Trp108Cys) c.285G>C (p.Trp95Cys) n.594G>C c.195G>C (p.Trp65Cys) c.318G>C (p.Trp106Cys) | |
19 | g.41988008C>T | CA406056352 | ATP1A3 | c.324G>A (p.Trp108Ter) c.285G>A (p.Trp95Ter) n.594G>A c.195G>A (p.Trp65Ter) c.318G>A (p.Trp106Ter) | |
19 | g.41988009C>A | CA406056353 | ATP1A3 | c.323G>T (p.Trp108Leu) c.284G>T (p.Trp95Leu) n.593G>T c.194G>T (p.Trp65Leu) c.317G>T (p.Trp106Leu) | |
19 | g.41988009C>G | CA406056358 | ATP1A3 | c.323G>C (p.Trp108Ser) c.284G>C (p.Trp95Ser) n.593G>C c.194G>C (p.Trp65Ser) c.317G>C (p.Trp106Ser) | |
19 | g.41988009C>T | CA406056356 | ATP1A3 | c.323G>A (p.Trp108Ter) c.284G>A (p.Trp95Ter) n.593G>A c.194G>A (p.Trp65Ter) c.317G>A (p.Trp106Ter) | COSMIC |
19 | g.41988010A>C | CA406056361 | ATP1A3 | c.322T>G (p.Trp108Gly) c.283T>G (p.Trp95Gly) n.592T>G c.193T>G (p.Trp65Gly) c.316T>G (p.Trp106Gly) | COSMIC |
19 | g.41988010A>G | CA406056365 | ATP1A3 | c.322T>C (p.Trp108Arg) c.283T>C (p.Trp95Arg) n.592T>C c.193T>C (p.Trp65Arg) c.316T>C (p.Trp106Arg) | |
19 | g.41988010A>T | CA406056363 | ATP1A3 | c.322T>A (p.Trp108Arg) c.283T>A (p.Trp95Arg) n.592T>A c.193T>A (p.Trp65Arg) c.316T>A (p.Trp106Arg) | |
19 | g.41988011C>A | CA507695542 | ATP1A3 | c.321G>T (p.Leu107=) c.282G>T (p.Leu94=) n.591G>T c.192G>T (p.Leu64=) c.315G>T (p.Leu105=) | |
19 | g.41988011C>G | CA507695543 | ATP1A3 | c.321G>C (p.Leu107=) c.282G>C (p.Leu94=) n.591G>C c.192G>C (p.Leu64=) c.315G>C (p.Leu105=) | |
19 | g.41988011C>T | CA507695544 | ATP1A3 | c.321G>A (p.Leu107=) c.282G>A (p.Leu94=) n.591G>A c.192G>A (p.Leu64=) c.315G>A (p.Leu105=) | |
19 | g.41988012A>C | CA406056368 | ATP1A3 | c.320T>G (p.Leu107Arg) c.281T>G (p.Leu94Arg) n.590T>G c.191T>G (p.Leu64Arg) c.314T>G (p.Leu105Arg) | |
19 | g.41988012A>G | CA406056371 | ATP1A3 | c.320T>C (p.Leu107Pro) c.281T>C (p.Leu94Pro) n.590T>C c.191T>C (p.Leu64Pro) c.314T>C (p.Leu105Pro) | ClinVar |
19 | g.41988012A>T | CA406056372 | ATP1A3 | c.320T>A (p.Leu107Gln) c.281T>A (p.Leu94Gln) n.590T>A c.191T>A (p.Leu64Gln) c.314T>A (p.Leu105Gln) | |
19 | g.41988013G>A | CA507695545 | ATP1A3 | c.319C>T (p.Leu107=) c.280C>T (p.Leu94=) n.589C>T c.190C>T (p.Leu64=) c.313C>T (p.Leu105=) | |
19 | g.41988013G>C | CA406056377 | ATP1A3 | c.319C>G (p.Leu107Val) c.280C>G (p.Leu94Val) n.589C>G c.190C>G (p.Leu64Val) c.313C>G (p.Leu105Val) | |
19 | g.41988013G>T | CA406056379 | ATP1A3 | c.319C>A (p.Leu107Met) c.280C>A (p.Leu94Met) n.589C>A c.190C>A (p.Leu64Met) c.313C>A (p.Leu105Met) | |
19 | g.41988014C>A | CA507695548 | ATP1A3 | c.318G>T (p.Leu106=) c.279G>T (p.Leu93=) n.588G>T c.189G>T (p.Leu63=) c.312G>T (p.Leu104=) | dbSNP |
19 | g.41988014C= | CA2336729281 | ATP1A3 | c.318G= (p.Leu106=) c.279G= (p.Leu93=) n.588G= c.189G= (p.Leu63=) c.312G= (p.Leu104=) | |
19 | g.41988014C>G | CA507695547 | ATP1A3 | c.318G>C (p.Leu106=) c.279G>C (p.Leu93=) n.588G>C c.189G>C (p.Leu63=) c.312G>C (p.Leu104=) | |
19 | g.41988014C>T | CA507695546 | ATP1A3 | c.318G>A (p.Leu106=) c.279G>A (p.Leu93=) n.588G>A c.189G>A (p.Leu63=) c.312G>A (p.Leu104=) | |
19 | g.41988015A>C | CA406056386 | ATP1A3 | c.317T>G (p.Leu106Arg) c.278T>G (p.Leu93Arg) n.587T>G c.188T>G (p.Leu63Arg) c.311T>G (p.Leu104Arg) | |
19 | g.41988015A>G | CA406056384 | ATP1A3 | c.317T>C (p.Leu106Pro) c.278T>C (p.Leu93Pro) n.587T>C c.188T>C (p.Leu63Pro) c.311T>C (p.Leu104Pro) | |
19 | g.41988015A>T | CA406056382 | ATP1A3 | c.317T>A (p.Leu106Gln) c.278T>A (p.Leu93Gln) n.587T>A c.188T>A (p.Leu63Gln) c.311T>A (p.Leu104Gln) | |
19 | g.41988016G>A | CA308599001 | ATP1A3 | c.316C>T (p.Leu106=) c.277C>T (p.Leu93=) n.586C>T c.187C>T (p.Leu63=) c.310C>T (p.Leu104=) | dbSNP |
19 | g.41988016G>C | CA406056388 | ATP1A3 | c.316C>G (p.Leu106Val) c.277C>G (p.Leu93Val) n.586C>G c.187C>G (p.Leu63Val) c.310C>G (p.Leu104Val) | |
19 | g.41988016G= | CA2336729282 | ATP1A3 | c.316C= (p.Leu106=) c.277C= (p.Leu93=) n.586C= c.187C= (p.Leu63=) c.310C= (p.Leu104=) | |
19 | g.41988016G>T | CA406056392 | ATP1A3 | c.316C>A (p.Leu106Met) c.277C>A (p.Leu93Met) n.586C>A c.187C>A (p.Leu63Met) c.310C>A (p.Leu104Met) | |
19 | g.41988017G>A | CA507695550 | ATP1A3 | c.315C>T (p.Ile105=) c.276C>T (p.Ile92=) n.585C>T c.186C>T (p.Ile62=) c.309C>T (p.Ile103=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41988017G>C | CA406056394 | ATP1A3 | c.315C>G (p.Ile105Met) c.276C>G (p.Ile92Met) n.585C>G c.186C>G (p.Ile62Met) c.309C>G (p.Ile103Met) | |
19 | g.41988017G= | CA2336729283 | ATP1A3 | c.315C= (p.Ile105=) c.276C= (p.Ile92=) n.585C= c.186C= (p.Ile62=) c.309C= (p.Ile103=) | |
19 | g.41988017G>T | CA507695551 | ATP1A3 | c.315C>A (p.Ile105=) c.276C>A (p.Ile92=) n.585C>A c.186C>A (p.Ile62=) c.309C>A (p.Ile103=) | |
19 | g.41988018A>C | CA406056397 | ATP1A3 | c.314T>G (p.Ile105Ser) c.275T>G (p.Ile92Ser) n.584T>G c.185T>G (p.Ile62Ser) c.308T>G (p.Ile103Ser) | |
19 | g.41988018A>G | CA406056407 | ATP1A3 | c.314T>C (p.Ile105Thr) c.275T>C (p.Ile92Thr) n.584T>C c.185T>C (p.Ile62Thr) c.308T>C (p.Ile103Thr) | |
19 | g.41988018A>T | CA406056409 | ATP1A3 | c.314T>A (p.Ile105Asn) c.275T>A (p.Ile92Asn) n.584T>A c.185T>A (p.Ile62Asn) c.308T>A (p.Ile103Asn) | |
19 | g.41988019T>A | CA406056415 | ATP1A3 | c.313A>T (p.Ile105Phe) c.274A>T (p.Ile92Phe) n.583A>T c.184A>T (p.Ile62Phe) c.307A>T (p.Ile103Phe) | |
19 | g.41988019T>C | CA308599033 | ATP1A3 | c.313A>G (p.Ile105Val) c.274A>G (p.Ile92Val) n.583A>G c.184A>G (p.Ile62Val) c.307A>G (p.Ile103Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41988019T>G | CA406056414 | ATP1A3 | c.313A>C (p.Ile105Leu) c.274A>C (p.Ile92Leu) n.583A>C c.184A>C (p.Ile62Leu) c.307A>C (p.Ile103Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41988019T= | CA2336729284 | ATP1A3 | c.313A= (p.Ile105=) c.274A= (p.Ile92=) n.583A= c.184A= (p.Ile62=) c.307A= (p.Ile103=) | |
19 | g.41988020G>A | CA507695554 | ATP1A3 | c.312C>T (p.Ser104=) c.273C>T (p.Ser91=) n.582C>T c.183C>T (p.Ser61=) c.306C>T (p.Ser102=) | |
19 | g.41988020G>C | CA507695556 | ATP1A3 | c.312C>G (p.Ser104=) c.273C>G (p.Ser91=) n.582C>G c.183C>G (p.Ser61=) c.306C>G (p.Ser102=) | |
19 | g.41988020G>T | CA507695557 | ATP1A3 | c.312C>A (p.Ser104=) c.273C>A (p.Ser91=) n.582C>A c.183C>A (p.Ser61=) c.306C>A (p.Ser102=) | |
19 | g.41988021G>A | CA406056418 | ATP1A3 | c.311C>T (p.Ser104Phe) c.272C>T (p.Ser91Phe) n.581C>T c.182C>T (p.Ser61Phe) c.305C>T (p.Ser102Phe) | |
19 | g.41988021G>C | CA406056421 | ATP1A3 | c.311C>G (p.Ser104Cys) c.272C>G (p.Ser91Cys) n.581C>G c.182C>G (p.Ser61Cys) c.305C>G (p.Ser102Cys) | gnomAD v4 |
19 | g.41988021G>T | CA406056423 | ATP1A3 | c.311C>A (p.Ser104Tyr) c.272C>A (p.Ser91Tyr) n.581C>A c.182C>A (p.Ser61Tyr) c.305C>A (p.Ser102Tyr) | |
19 | g.41988022A>C | CA406056426 | ATP1A3 | c.310T>G (p.Ser104Ala) c.271T>G (p.Ser91Ala) n.580T>G c.181T>G (p.Ser61Ala) c.304T>G (p.Ser102Ala) | |
19 | g.41988022A>G | CA406056429 | ATP1A3 | c.310T>C (p.Ser104Pro) c.271T>C (p.Ser91Pro) n.580T>C c.181T>C (p.Ser61Pro) c.304T>C (p.Ser102Pro) | |
19 | g.41988022A>T | CA406056431 | ATP1A3 | c.310T>A (p.Ser104Thr) c.271T>A (p.Ser91Thr) n.580T>A c.181T>A (p.Ser61Thr) c.304T>A (p.Ser102Thr) | |
19 | g.41988023G>A | CA9467911 | ATP1A3 | c.309C>T (p.Phe103=) c.270C>T (p.Phe90=) n.579C>T c.180C>T (p.Phe60=) c.303C>T (p.Phe101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41988023G>C | CA406056434 | ATP1A3 | c.309C>G (p.Phe103Leu) c.270C>G (p.Phe90Leu) n.579C>G c.180C>G (p.Phe60Leu) c.303C>G (p.Phe101Leu) | |
19 | g.41988023G= | CA2336729285 | ATP1A3 | c.309C= (p.Phe103=) c.270C= (p.Phe90=) n.579C= c.180C= (p.Phe60=) c.303C= (p.Phe101=) | |
19 | g.41988023G>T | CA406056436 | ATP1A3 | c.309C>A (p.Phe103Leu) c.270C>A (p.Phe90Leu) n.579C>A c.180C>A (p.Phe60Leu) c.303C>A (p.Phe101Leu) | |
19 | g.41988024A>C | CA406056438 | ATP1A3 | c.308T>G (p.Phe103Cys) c.269T>G (p.Phe90Cys) n.578T>G c.179T>G (p.Phe60Cys) c.302T>G (p.Phe101Cys) | |
19 | g.41988024A>G | CA406056440 | ATP1A3 | c.308T>C (p.Phe103Ser) c.269T>C (p.Phe90Ser) n.578T>C c.179T>C (p.Phe60Ser) c.302T>C (p.Phe101Ser) | |
19 | g.41988024A>T | CA406056442 | ATP1A3 | c.308T>A (p.Phe103Tyr) c.269T>A (p.Phe90Tyr) n.578T>A c.179T>A (p.Phe60Tyr) c.302T>A (p.Phe101Tyr) | |
19 | g.41988025A>C | CA406056445 | ATP1A3 | c.307T>G (p.Phe103Val) c.268T>G (p.Phe90Val) n.577T>G c.178T>G (p.Phe60Val) c.301T>G (p.Phe101Val) | |
19 | g.41988025A>G | CA406056448 | ATP1A3 | c.307T>C (p.Phe103Leu) c.268T>C (p.Phe90Leu) n.577T>C c.178T>C (p.Phe60Leu) c.301T>C (p.Phe101Leu) | |
19 | g.41988025A>T | CA406056447 | ATP1A3 | c.307T>A (p.Phe103Ile) c.268T>A (p.Phe90Ile) n.577T>A c.178T>A (p.Phe60Ile) c.301T>A (p.Phe101Ile) | |
19 | g.41988026G>A | CA507695560 | ATP1A3 | c.306C>T (p.Gly102=) c.267C>T (p.Gly89=) n.576C>T c.177C>T (p.Gly59=) c.300C>T (p.Gly100=) | |
19 | g.41988026G>C | CA507695561 | ATP1A3 | c.306C>G (p.Gly102=) c.267C>G (p.Gly89=) n.576C>G c.177C>G (p.Gly59=) c.300C>G (p.Gly100=) | |
19 | g.41988026G>T | CA507695562 | ATP1A3 | c.306C>A (p.Gly102=) c.267C>A (p.Gly89=) n.576C>A c.177C>A (p.Gly59=) c.300C>A (p.Gly100=) | |
19 | g.41988027C>A | CA406056450 | ATP1A3 | c.305G>T (p.Gly102Val) c.266G>T (p.Gly89Val) n.575G>T c.176G>T (p.Gly59Val) c.299G>T (p.Gly100Val) | |
19 | g.41988027C= | CA2336729286 | ATP1A3 | c.305G= (p.Gly102=) c.266G= (p.Gly89=) n.575G= c.176G= (p.Gly59=) c.299G= (p.Gly100=) | |
19 | g.41988027C>G | CA406056451 | ATP1A3 | c.305G>C (p.Gly102Ala) c.266G>C (p.Gly89Ala) n.575G>C c.176G>C (p.Gly59Ala) c.299G>C (p.Gly100Ala) | ClinVar dbSNP |
19 | g.41988027C>T | CA406056452 | ATP1A3 | c.305G>A (p.Gly102Asp) c.266G>A (p.Gly89Asp) n.575G>A c.176G>A (p.Gly59Asp) c.299G>A (p.Gly100Asp) | |
19 | g.41988028C>A | CA406056455 | ATP1A3 | c.304G>T (p.Gly102Cys) c.265G>T (p.Gly89Cys) n.574G>T c.175G>T (p.Gly59Cys) c.298G>T (p.Gly100Cys) | ClinVar |
19 | g.41988028C= | CA2336729287 | ATP1A3 | c.304G= (p.Gly102=) c.265G= (p.Gly89=) n.574G= c.175G= (p.Gly59=) c.298G= (p.Gly100=) | |
19 | g.41988028C>G | CA406056456 | ATP1A3 | c.304G>C (p.Gly102Arg) c.265G>C (p.Gly89Arg) n.574G>C c.175G>C (p.Gly59Arg) c.298G>C (p.Gly100Arg) | |
19 | g.41988028C>T | CA16608263 | ATP1A3 | c.304G>A (p.Gly102Ser) c.265G>A (p.Gly89Ser) n.574G>A c.175G>A (p.Gly59Ser) c.298G>A (p.Gly100Ser) | ClinVar dbSNP |
19 | g.41988029C>A | CA507695564 | ATP1A3 | c.303G>T (p.Gly101=) c.264G>T (p.Gly88=) n.573G>T c.174G>T (p.Gly58=) c.297G>T (p.Gly99=) | |
19 | g.41988029C= | CA2336729288 | ATP1A3 | c.303G= (p.Gly101=) c.264G= (p.Gly88=) n.573G= c.174G= (p.Gly58=) c.297G= (p.Gly99=) | |
19 | g.41988029C>G | CA507695565 | ATP1A3 | c.303G>C (p.Gly101=) c.264G>C (p.Gly88=) n.573G>C c.174G>C (p.Gly58=) c.297G>C (p.Gly99=) | gnomAD v4 |
19 | g.41988029C>T | CA9467912 | ATP1A3 | c.303G>A (p.Gly101=) c.264G>A (p.Gly88=) n.573G>A c.174G>A (p.Gly58=) c.297G>A (p.Gly99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41988030C>A | CA406056460 | ATP1A3 | c.302G>T (p.Gly101Val) c.263G>T (p.Gly88Val) n.572G>T c.173G>T (p.Gly58Val) c.296G>T (p.Gly99Val) | |
19 | g.41988030C>G | CA406056462 | ATP1A3 | c.302G>C (p.Gly101Ala) c.263G>C (p.Gly88Ala) n.572G>C c.173G>C (p.Gly58Ala) c.296G>C (p.Gly99Ala) | |
19 | g.41988030C>T | CA406056464 | ATP1A3 | c.302G>A (p.Gly101Glu) c.263G>A (p.Gly88Glu) n.572G>A c.173G>A (p.Gly58Glu) c.296G>A (p.Gly99Glu) | |
19 | g.41988031C>A | CA406056467 | ATP1A3 | c.301G>T (p.Gly101Trp) c.262G>T (p.Gly88Trp) n.571G>T c.172G>T (p.Gly58Trp) c.295G>T (p.Gly99Trp) | |
19 | g.41988031C= | CA2336729289 | ATP1A3 | c.301G= (p.Gly101=) c.262G= (p.Gly88=) n.571G= c.172G= (p.Gly58=) c.295G= (p.Gly99=) | |
19 | g.41988031C>G | CA406056468 | ATP1A3 | c.301G>C (p.Gly101Arg) c.262G>C (p.Gly88Arg) n.571G>C c.172G>C (p.Gly58Arg) c.295G>C (p.Gly99Arg) | dbSNP |
19 | g.41988031C>T | CA406056470 | ATP1A3 | c.301G>A (p.Gly101Arg) c.262G>A (p.Gly88Arg) n.571G>A c.172G>A (p.Gly58Arg) c.295G>A (p.Gly99Arg) | ClinVar gnomAD v4 |
19 | g.41988032G>A | CA507695568 | ATP1A3 | c.300C>T (p.Phe100=) c.261C>T (p.Phe87=) n.570C>T c.171C>T (p.Phe57=) c.294C>T (p.Phe98=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41988032G>C | CA406056472 | ATP1A3 | c.300C>G (p.Phe100Leu) c.261C>G (p.Phe87Leu) n.570C>G c.171C>G (p.Phe57Leu) c.294C>G (p.Phe98Leu) | |
19 | g.41988032G= | CA2336729290 | ATP1A3 | c.300C= (p.Phe100=) c.261C= (p.Phe87=) n.570C= c.171C= (p.Phe57=) c.294C= (p.Phe98=) | |
19 | g.41988032G>T | CA406056473 | ATP1A3 | c.300C>A (p.Phe100Leu) c.261C>A (p.Phe87Leu) n.570C>A c.171C>A (p.Phe57Leu) c.294C>A (p.Phe98Leu) | |
19 | g.41988033A>C | CA406056475 | ATP1A3 | c.299T>G (p.Phe100Cys) c.260T>G (p.Phe87Cys) n.569T>G c.170T>G (p.Phe57Cys) c.293T>G (p.Phe98Cys) | |
19 | g.41988033A>G | CA406056476 | ATP1A3 | c.299T>C (p.Phe100Ser) c.260T>C (p.Phe87Ser) n.569T>C c.170T>C (p.Phe57Ser) c.293T>C (p.Phe98Ser) | |
19 | g.41988033A>T | CA406056477 | ATP1A3 | c.299T>A (p.Phe100Tyr) c.260T>A (p.Phe87Tyr) n.569T>A c.170T>A (p.Phe57Tyr) c.293T>A (p.Phe98Tyr) | |
19 | g.41988034A>C | CA406056479 | ATP1A3 | c.298T>G (p.Phe100Val) c.259T>G (p.Phe87Val) n.568T>G c.169T>G (p.Phe57Val) c.292T>G (p.Phe98Val) | |
19 | g.41988034A>G | CA406056481 | ATP1A3 | c.298T>C (p.Phe100Leu) c.259T>C (p.Phe87Leu) n.568T>C c.169T>C (p.Phe57Leu) c.292T>C (p.Phe98Leu) | |
19 | g.41988034A>T | CA406056483 | ATP1A3 | c.298T>A (p.Phe100Ile) c.259T>A (p.Phe87Ile) n.568T>A c.169T>A (p.Phe57Ile) c.292T>A (p.Phe98Ile) | |
19 | g.41988035G>A | CA507695571 | ATP1A3 | c.297C>T (p.Leu99=) c.258C>T (p.Leu86=) n.567C>T c.168C>T (p.Leu56=) c.291C>T (p.Leu97=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41988035G>C | CA507695573 | ATP1A3 | c.297C>G (p.Leu99=) c.258C>G (p.Leu86=) n.567C>G c.168C>G (p.Leu56=) c.291C>G (p.Leu97=) | dbSNP |
19 | g.41988035G= | CA2336729291 | ATP1A3 | c.297C= (p.Leu99=) c.258C= (p.Leu86=) n.567C= c.168C= (p.Leu56=) c.291C= (p.Leu97=) | |
19 | g.41988035G>T | CA507695572 | ATP1A3 | c.297C>A (p.Leu99=) c.258C>A (p.Leu86=) n.567C>A c.168C>A (p.Leu56=) c.291C>A (p.Leu97=) | |
19 | g.41988036A>C | CA406056485 | ATP1A3 | c.296T>G (p.Leu99Arg) c.257T>G (p.Leu86Arg) n.566T>G c.167T>G (p.Leu56Arg) c.290T>G (p.Leu97Arg) | |
19 | g.41988036A>G | CA406056487 | ATP1A3 | c.296T>C (p.Leu99Pro) c.257T>C (p.Leu86Pro) n.566T>C c.167T>C (p.Leu56Pro) c.290T>C (p.Leu97Pro) | |
19 | g.41988036A>T | CA406056489 | ATP1A3 | c.296T>A (p.Leu99His) c.257T>A (p.Leu86His) n.566T>A c.167T>A (p.Leu56His) c.290T>A (p.Leu97His) | |
19 | g.41988037G>A | CA406056491 | ATP1A3 | c.295C>T (p.Leu99Phe) c.256C>T (p.Leu86Phe) n.565C>T c.166C>T (p.Leu56Phe) c.289C>T (p.Leu97Phe) | |
19 | g.41988037G>C | CA406056493 | ATP1A3 | c.295C>G (p.Leu99Val) c.256C>G (p.Leu86Val) n.565C>G c.166C>G (p.Leu56Val) c.289C>G (p.Leu97Val) | |
19 | g.41988037G>T | CA406056495 | ATP1A3 | c.295C>A (p.Leu99Ile) c.256C>A (p.Leu86Ile) n.565C>A c.166C>A (p.Leu56Ile) c.289C>A (p.Leu97Ile) | |
19 | g.41988038C>A | CA406056497 | ATP1A3 | c.294G>T (p.Gln98His) c.255G>T (p.Gln85His) n.564G>T c.165G>T (p.Gln55His) c.288G>T (p.Gln96His) | |
19 | g.41988038C= | CA2336729292 | ATP1A3 | c.294G= (p.Gln98=) c.255G= (p.Gln85=) n.564G= c.165G= (p.Gln55=) c.288G= (p.Gln96=) | |
19 | g.41988038C>G | CA406056499 | ATP1A3 | c.294G>C (p.Gln98His) c.255G>C (p.Gln85His) n.564G>C c.165G>C (p.Gln55His) c.288G>C (p.Gln96His) | |
19 | g.41988038C>T | CA507695578 | ATP1A3 | c.294G>A (p.Gln98=) c.255G>A (p.Gln85=) n.564G>A c.165G>A (p.Gln55=) c.288G>A (p.Gln96=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41988039T>A | CA406056501 | ATP1A3 | c.293A>T (p.Gln98Leu) c.254A>T (p.Gln85Leu) n.563A>T c.164A>T (p.Gln55Leu) c.287A>T (p.Gln96Leu) | |
19 | g.41988039T>C | CA406056503 | ATP1A3 | c.293A>G (p.Gln98Arg) c.254A>G (p.Gln85Arg) n.563A>G c.164A>G (p.Gln55Arg) c.287A>G (p.Gln96Arg) | |
19 | g.41988039T>G | CA406056504 | ATP1A3 | c.293A>C (p.Gln98Pro) c.254A>C (p.Gln85Pro) n.563A>C c.164A>C (p.Gln55Pro) c.287A>C (p.Gln96Pro) | |
19 | g.41988040G>A | CA406056507 | ATP1A3 | c.292C>T (p.Gln98Ter) c.253C>T (p.Gln85Ter) n.562C>T c.163C>T (p.Gln55Ter) c.286C>T (p.Gln96Ter) | |
19 | g.41988040G>C | CA406056509 | ATP1A3 | c.292C>G (p.Gln98Glu) c.253C>G (p.Gln85Glu) n.562C>G c.163C>G (p.Gln55Glu) c.286C>G (p.Gln96Glu) | |
19 | g.41988040G>T | CA406056511 | ATP1A3 | c.292C>A (p.Gln98Lys) c.253C>A (p.Gln85Lys) n.562C>A c.163C>A (p.Gln55Lys) c.286C>A (p.Gln96Lys) | |
19 | g.41988041C>A | CA507695579 | ATP1A3 | c.291G>T (p.Arg97=) c.252G>T (p.Arg84=) n.561G>T c.162G>T (p.Arg54=) c.285G>T (p.Arg95=) | |
19 | g.41988041C= | CA2336729293 | ATP1A3 | c.291G= (p.Arg97=) c.252G= (p.Arg84=) n.561G= c.162G= (p.Arg54=) c.285G= (p.Arg95=) | |
19 | g.41988041C>G | CA507695580 | ATP1A3 | c.291G>C (p.Arg97=) c.252G>C (p.Arg84=) n.561G>C c.162G>C (p.Arg54=) c.285G>C (p.Arg95=) | |
19 | g.41988041C>T | CA507695581 | ATP1A3 | c.291G>A (p.Arg97=) c.252G>A (p.Arg84=) n.561G>A c.162G>A (p.Arg54=) c.285G>A (p.Arg95=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41988042C>A | CA406056513 | ATP1A3 | c.290G>T (p.Arg97Leu) c.251G>T (p.Arg84Leu) n.560G>T c.161G>T (p.Arg54Leu) c.284G>T (p.Arg95Leu) | |
19 | g.41988042C= | CA2336729294 | ATP1A3 | c.290G= (p.Arg97=) c.251G= (p.Arg84=) n.560G= c.161G= (p.Arg54=) c.284G= (p.Arg95=) | |
19 | g.41988042C>G | CA406056515 | ATP1A3 | c.290G>C (p.Arg97Pro) c.251G>C (p.Arg84Pro) n.560G>C c.161G>C (p.Arg54Pro) c.284G>C (p.Arg95Pro) | |
19 | g.41988042C>T | CA9467913 | ATP1A3 | c.290G>A (p.Arg97Gln) c.251G>A (p.Arg84Gln) n.560G>A c.161G>A (p.Arg54Gln) c.284G>A (p.Arg95Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.41988043G>A | CA406056519 | ATP1A3 | c.289C>T (p.Arg97Trp) c.250C>T (p.Arg84Trp) n.559C>T c.160C>T (p.Arg54Trp) c.283C>T (p.Arg95Trp) | ClinVar dbSNP gnomAD v4 |
19 | g.41988043G>C | CA406056520 | ATP1A3 | c.289C>G (p.Arg97Gly) c.250C>G (p.Arg84Gly) n.559C>G c.160C>G (p.Arg54Gly) c.283C>G (p.Arg95Gly) | ClinVar dbSNP |
19 | g.41988043G= | CA2336729295 | ATP1A3 | c.289C= (p.Arg97=) c.250C= (p.Arg84=) n.559C= c.160C= (p.Arg54=) c.283C= (p.Arg95=) | |
19 | g.41988043G>T | CA507695583 | ATP1A3 | c.289C>A (p.Arg97=) c.250C>A (p.Arg84=) n.559C>A c.160C>A (p.Arg54=) c.283C>A (p.Arg95=) | |
19 | g.41988044G>A | CA507695584 | ATP1A3 | c.288C>T (p.Cys96=) c.249C>T (p.Cys83=) n.558C>T c.159C>T (p.Cys53=) c.282C>T (p.Cys94=) | |
19 | g.41988044G>C | CA406056524 | ATP1A3 | c.288C>G (p.Cys96Trp) c.249C>G (p.Cys83Trp) n.558C>G c.159C>G (p.Cys53Trp) c.282C>G (p.Cys94Trp) | |
19 | g.41988044G>T | CA406056526 | ATP1A3 | c.288C>A (p.Cys96Ter) c.249C>A (p.Cys83Ter) n.558C>A c.159C>A (p.Cys53Ter) c.282C>A (p.Cys94Ter) | |
19 | g.41988045C>A | CA406056532 | ATP1A3 | c.287G>T (p.Cys96Phe) c.248G>T (p.Cys83Phe) n.557G>T c.158G>T (p.Cys53Phe) c.281G>T (p.Cys94Phe) | dbSNP |
19 | g.41988045C= | CA2336729296 | ATP1A3 | c.287G= (p.Cys96=) c.248G= (p.Cys83=) n.557G= c.158G= (p.Cys53=) c.281G= (p.Cys94=) | |
19 | g.41988045C>G | CA406056530 | ATP1A3 | c.287G>C (p.Cys96Ser) c.248G>C (p.Cys83Ser) n.557G>C c.158G>C (p.Cys53Ser) c.281G>C (p.Cys94Ser) | |
19 | g.41988045C>T | CA406056529 | ATP1A3 | c.287G>A (p.Cys96Tyr) c.248G>A (p.Cys83Tyr) n.557G>A c.158G>A (p.Cys53Tyr) c.281G>A (p.Cys94Tyr) | |
19 | g.41988046A>C | CA406056534 | ATP1A3 | c.286T>G (p.Cys96Gly) c.247T>G (p.Cys83Gly) n.556T>G c.157T>G (p.Cys53Gly) c.280T>G (p.Cys94Gly) | |
19 | g.41988046A>G | CA406056535 | ATP1A3 | c.286T>C (p.Cys96Arg) c.247T>C (p.Cys83Arg) n.556T>C c.157T>C (p.Cys53Arg) c.280T>C (p.Cys94Arg) | |
19 | g.41988046A>T | CA406056536 | ATP1A3 | c.286T>A (p.Cys96Ser) c.247T>A (p.Cys83Ser) n.556T>A c.157T>A (p.Cys53Ser) c.280T>A (p.Cys94Ser) | |
19 | g.41988047A>C | CA406056539 | ATP1A3 | c.285T>G (p.Phe95Leu) c.246T>G (p.Phe82Leu) n.555T>G c.156T>G (p.Phe52Leu) c.279T>G (p.Phe93Leu) | |
19 | g.41988047A>G | CA507695591 | ATP1A3 | c.285T>C (p.Phe95=) c.246T>C (p.Phe82=) n.555T>C c.156T>C (p.Phe52=) c.279T>C (p.Phe93=) | |
19 | g.41988047A>T | CA406056540 | ATP1A3 | c.285T>A (p.Phe95Leu) c.246T>A (p.Phe82Leu) n.555T>A c.156T>A (p.Phe52Leu) c.279T>A (p.Phe93Leu) | |
19 | g.41988048A>C | CA406056542 | ATP1A3 | c.284T>G (p.Phe95Cys) c.245T>G (p.Phe82Cys) n.554T>G c.155T>G (p.Phe52Cys) c.278T>G (p.Phe93Cys) | |
19 | g.41988048A>G | CA406056543 | ATP1A3 | c.284T>C (p.Phe95Ser) c.245T>C (p.Phe82Ser) n.554T>C c.155T>C (p.Phe52Ser) c.278T>C (p.Phe93Ser) | |
19 | g.41988048A>T | CA406056545 | ATP1A3 | c.284T>A (p.Phe95Tyr) c.245T>A (p.Phe82Tyr) n.554T>A c.155T>A (p.Phe52Tyr) c.278T>A (p.Phe93Tyr) | |
19 | g.41988049A>C | CA406056548 | ATP1A3 | c.283T>G (p.Phe95Val) c.244T>G (p.Phe82Val) n.553T>G c.154T>G (p.Phe52Val) c.277T>G (p.Phe93Val) | |
19 | g.41988049A>G | CA406056550 | ATP1A3 | c.283T>C (p.Phe95Leu) c.244T>C (p.Phe82Leu) n.553T>C c.154T>C (p.Phe52Leu) c.277T>C (p.Phe93Leu) | |
19 | g.41988049A>T | CA406056551 | ATP1A3 | c.283T>A (p.Phe95Ile) c.244T>A (p.Phe82Ile) n.553T>A c.154T>A (p.Phe52Ile) c.277T>A (p.Phe93Ile) | |
19 | g.41988050C>A | CA406056552 | ATP1A3 | c.282G>T (p.Lys94Asn) c.243G>T (p.Lys81Asn) n.552G>T c.153G>T (p.Lys51Asn) c.276G>T (p.Lys92Asn) | |
19 | g.41988050C= | CA2336729297 | ATP1A3 | c.282G= (p.Lys94=) c.243G= (p.Lys81=) n.552G= c.153G= (p.Lys51=) c.276G= (p.Lys92=) | |
19 | g.41988050C>G | CA406056554 | ATP1A3 | c.282G>C (p.Lys94Asn) c.243G>C (p.Lys81Asn) n.552G>C c.153G>C (p.Lys51Asn) c.276G>C (p.Lys92Asn) | |
19 | g.41988050C>T | CA9467914 | ATP1A3 | c.282G>A (p.Lys94=) c.243G>A (p.Lys81=) n.552G>A c.153G>A (p.Lys51=) c.276G>A (p.Lys92=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41988051T>A | CA406056558 | ATP1A3 | c.281A>T (p.Lys94Met) c.242A>T (p.Lys81Met) n.551A>T c.152A>T (p.Lys51Met) c.275A>T (p.Lys92Met) | |
19 | g.41988051T>C | CA406056560 | ATP1A3 | c.281A>G (p.Lys94Arg) c.242A>G (p.Lys81Arg) n.551A>G c.152A>G (p.Lys51Arg) c.275A>G (p.Lys92Arg) | |
19 | g.41988051T>G | CA406056557 | ATP1A3 | c.281A>C (p.Lys94Thr) c.242A>C (p.Lys81Thr) n.551A>C c.152A>C (p.Lys51Thr) c.275A>C (p.Lys92Thr) | |
19 | g.41988052T>A | CA406056562 | ATP1A3 | c.280A>T (p.Lys94Ter) c.241A>T (p.Lys81Ter) n.550A>T c.151A>T (p.Lys51Ter) c.274A>T (p.Lys92Ter) | |
19 | g.41988052T>C | CA406056564 | ATP1A3 | c.280A>G (p.Lys94Glu) c.241A>G (p.Lys81Glu) n.550A>G c.151A>G (p.Lys51Glu) c.274A>G (p.Lys92Glu) | |
19 | g.41988052T>G | CA406056566 | ATP1A3 | c.280A>C (p.Lys94Gln) c.241A>C (p.Lys81Gln) n.550A>C c.151A>C (p.Lys51Gln) c.274A>C (p.Lys92Gln) | gnomAD v4 |
19 | g.41988053G>A | CA9467915 | ATP1A3 | c.279C>T (p.Val93=) c.240C>T (p.Val80=) n.549C>T c.150C>T (p.Val50=) c.273C>T (p.Val91=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41988053G>C | CA507695594 | ATP1A3 | c.279C>G (p.Val93=) c.240C>G (p.Val80=) n.549C>G c.150C>G (p.Val50=) c.273C>G (p.Val91=) | |
19 | g.41988053G= | CA2336729298 | ATP1A3 | c.279C= (p.Val93=) c.240C= (p.Val80=) n.549C= c.150C= (p.Val50=) c.273C= (p.Val91=) | |
19 | g.41988053G>T | CA507695595 | ATP1A3 | c.279C>A (p.Val93=) c.240C>A (p.Val80=) n.549C>A c.150C>A (p.Val50=) c.273C>A (p.Val91=) | |
19 | g.41988054A>C | CA406056568 | ATP1A3 | c.278T>G (p.Val93Gly) c.239T>G (p.Val80Gly) n.548T>G c.149T>G (p.Val50Gly) c.272T>G (p.Val91Gly) | |
19 | g.41988054A>G | CA406056571 | ATP1A3 | c.278T>C (p.Val93Ala) c.239T>C (p.Val80Ala) n.548T>C c.149T>C (p.Val50Ala) c.272T>C (p.Val91Ala) | |
19 | g.41988054A>T | CA406056573 | ATP1A3 | c.278T>A (p.Val93Asp) c.239T>A (p.Val80Asp) n.548T>A c.149T>A (p.Val50Asp) c.272T>A (p.Val91Asp) | |
19 | g.41988055C>A | CA406056575 | ATP1A3 | c.277G>T (p.Val93Phe) c.238G>T (p.Val80Phe) n.547G>T c.148G>T (p.Val50Phe) c.271G>T (p.Val91Phe) | |
19 | g.41988055C= | CA2336729299 | ATP1A3 | c.277G= (p.Val93=) c.238G= (p.Val80=) n.547G= c.148G= (p.Val50=) c.271G= (p.Val91=) | |
19 | g.41988055C>G | CA406056577 | ATP1A3 | c.277G>C (p.Val93Leu) c.238G>C (p.Val80Leu) n.547G>C c.148G>C (p.Val50Leu) c.271G>C (p.Val91Leu) | |
19 | g.41988055C>T | CA9467916 | ATP1A3 | c.277G>A (p.Val93Ile) c.238G>A (p.Val80Ile) n.547G>A c.148G>A (p.Val50Ile) c.271G>A (p.Val91Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41988056C>A | CA406056579 | ATP1A3 | c.276G>T (p.Trp92Cys) c.237G>T (p.Trp79Cys) n.546G>T c.147G>T (p.Trp49Cys) c.270G>T (p.Trp90Cys) | |
19 | g.41988056C>G | CA406056581 | ATP1A3 | c.276G>C (p.Trp92Cys) c.237G>C (p.Trp79Cys) n.546G>C c.147G>C (p.Trp49Cys) c.270G>C (p.Trp90Cys) | |
19 | g.41988056C>T | CA406056583 | ATP1A3 | c.276G>A (p.Trp92Ter) c.237G>A (p.Trp79Ter) n.546G>A c.147G>A (p.Trp49Ter) c.270G>A (p.Trp90Ter) | |
19 | g.41988057C>A | CA406056585 | ATP1A3 | c.275G>T (p.Trp92Leu) c.236G>T (p.Trp79Leu) n.545G>T c.146G>T (p.Trp49Leu) c.269G>T (p.Trp90Leu) | |
19 | g.41988057C>G | CA406056589 | ATP1A3 | c.275G>C (p.Trp92Ser) c.236G>C (p.Trp79Ser) n.545G>C c.146G>C (p.Trp49Ser) c.269G>C (p.Trp90Ser) | |
19 | g.41988057C>T | CA406056587 | ATP1A3 | c.275G>A (p.Trp92Ter) c.236G>A (p.Trp79Ter) n.545G>A c.146G>A (p.Trp49Ter) c.269G>A (p.Trp90Ter) | |
19 | g.41988058del | CA2573156407 | ATP1A3 | c.274del (p.Trp92GlyfsTer?) c.235del (p.Trp79GlyfsTer?) n.544del c.145del (p.Trp49GlyfsTer?) c.268del (p.Trp90GlyfsTer?) | ClinVar dbSNP |
19 | g.41988058A>C | CA406056591 | ATP1A3 | c.274T>G (p.Trp92Gly) c.235T>G (p.Trp79Gly) n.544T>G c.145T>G (p.Trp49Gly) c.268T>G (p.Trp90Gly) | |
19 | g.41988058A>G | CA406056592 | ATP1A3 | c.274T>C (p.Trp92Arg) c.235T>C (p.Trp79Arg) n.544T>C c.145T>C (p.Trp49Arg) c.268T>C (p.Trp90Arg) | |
19 | g.41988058A>T | CA406056598 | ATP1A3 | c.274T>A (p.Trp92Arg) c.235T>A (p.Trp79Arg) n.544T>A c.145T>A (p.Trp49Arg) c.268T>A (p.Trp90Arg) | |
19 | g.41988059C>A | CA406056600 | ATP1A3 | c.273G>T (p.Glu91Asp) c.234G>T (p.Glu78Asp) n.543G>T c.144G>T (p.Glu48Asp) c.267G>T (p.Glu89Asp) | |
19 | g.41988059C>G | CA406056602 | ATP1A3 | c.273G>C (p.Glu91Asp) c.234G>C (p.Glu78Asp) n.543G>C c.144G>C (p.Glu48Asp) c.267G>C (p.Glu89Asp) | |
19 | g.41988059C>T | CA507695604 | ATP1A3 | c.273G>A (p.Glu91=) c.234G>A (p.Glu78=) n.543G>A c.144G>A (p.Glu48=) c.267G>A (p.Glu89=) | |
19 | g.41988060T>A | CA406056603 | ATP1A3 | c.272A>T (p.Glu91Val) c.233A>T (p.Glu78Val) n.542A>T c.143A>T (p.Glu48Val) c.266A>T (p.Glu89Val) | |
19 | g.41988060T>C | CA406056605 | ATP1A3 | c.272A>G (p.Glu91Gly) c.233A>G (p.Glu78Gly) n.542A>G c.143A>G (p.Glu48Gly) c.266A>G (p.Glu89Gly) | |
19 | g.41988060T>G | CA406056607 | ATP1A3 | c.272A>C (p.Glu91Ala) c.233A>C (p.Glu78Ala) n.542A>C c.143A>C (p.Glu48Ala) c.266A>C (p.Glu89Ala) | |
19 | g.41988061C>A | CA406056609 | ATP1A3 | c.271G>T (p.Glu91Ter) c.232G>T (p.Glu78Ter) n.541G>T c.142G>T (p.Glu48Ter) c.265G>T (p.Glu89Ter) | |
19 | g.41988061C>G | CA406056611 | ATP1A3 | c.271G>C (p.Glu91Gln) c.232G>C (p.Glu78Gln) n.541G>C c.142G>C (p.Glu48Gln) c.265G>C (p.Glu89Gln) | |
19 | g.41988061C>T | CA406056613 | ATP1A3 | c.271G>A (p.Glu91Lys) c.232G>A (p.Glu78Lys) n.541G>A c.142G>A (p.Glu48Lys) c.265G>A (p.Glu89Lys) | |
19 | g.41988062T>A | CA507695607 | ATP1A3 | c.270A>T (p.Pro90=) c.231A>T (p.Pro77=) n.540A>T c.141A>T (p.Pro47=) c.264A>T (p.Pro88=) | |
19 | g.41988062T>C | CA507695608 | ATP1A3 | c.270A>G (p.Pro90=) c.231A>G (p.Pro77=) n.540A>G c.141A>G (p.Pro47=) c.264A>G (p.Pro88=) | |
19 | g.41988062T>G | CA507695609 | ATP1A3 | c.270A>C (p.Pro90=) c.231A>C (p.Pro77=) n.540A>C c.141A>C (p.Pro47=) c.264A>C (p.Pro88=) | |
19 | g.41988063G>A | CA308599065 | ATP1A3 | c.269C>T (p.Pro90Leu) c.230C>T (p.Pro77Leu) n.539C>T c.140C>T (p.Pro47Leu) c.263C>T (p.Pro88Leu) | dbSNP |
19 | g.41988063G>C | CA406056618 | ATP1A3 | c.269C>G (p.Pro90Arg) c.230C>G (p.Pro77Arg) n.539C>G c.140C>G (p.Pro47Arg) c.263C>G (p.Pro88Arg) | |
19 | g.41988063G= | CA2336729300 | ATP1A3 | c.269C= (p.Pro90=) c.230C= (p.Pro77=) n.539C= c.140C= (p.Pro47=) c.263C= (p.Pro88=) | |
19 | g.41988063G>T | CA406056615 | ATP1A3 | c.269C>A (p.Pro90Gln) c.230C>A (p.Pro77Gln) n.539C>A c.140C>A (p.Pro47Gln) c.263C>A (p.Pro88Gln) | ClinVar |
19 | g.41988064G>A | CA406056620 | ATP1A3 | c.268C>T (p.Pro90Ser) c.229C>T (p.Pro77Ser) n.538C>T c.139C>T (p.Pro47Ser) c.262C>T (p.Pro88Ser) | |
19 | g.41988064G>C | CA406056624 | ATP1A3 | c.268C>G (p.Pro90Ala) c.229C>G (p.Pro77Ala) n.538C>G c.139C>G (p.Pro47Ala) c.262C>G (p.Pro88Ala) | |
19 | g.41988064G>T | CA406056622 | ATP1A3 | c.268C>A (p.Pro90Thr) c.229C>A (p.Pro77Thr) n.538C>A c.139C>A (p.Pro47Thr) c.262C>A (p.Pro88Thr) | |
19 | g.41988065G>A | CA507695613 | ATP1A3 | c.267C>T (p.Thr89=) c.228C>T (p.Thr76=) n.537C>T c.138C>T (p.Thr46=) c.261C>T (p.Thr87=) | dbSNP gnomAD v4 |
19 | g.41988065G>C | CA507695615 | ATP1A3 | c.267C>G (p.Thr89=) c.228C>G (p.Thr76=) n.537C>G c.138C>G (p.Thr46=) c.261C>G (p.Thr87=) | |
19 | g.41988065G= | CA2336729301 | ATP1A3 | c.267C= (p.Thr89=) c.228C= (p.Thr76=) n.537C= c.138C= (p.Thr46=) c.261C= (p.Thr87=) | |
19 | g.41988065G>T | CA9467917 | ATP1A3 | c.267C>A (p.Thr89=) c.228C>A (p.Thr76=) n.537C>A c.138C>A (p.Thr46=) c.261C>A (p.Thr87=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41988066G>A | CA406056628 | ATP1A3 | c.266C>T (p.Thr89Ile) c.227C>T (p.Thr76Ile) n.536C>T c.137C>T (p.Thr46Ile) c.260C>T (p.Thr87Ile) | ClinVar dbSNP gnomAD v4 |
19 | g.41988066G>C | CA406056629 | ATP1A3 | c.266C>G (p.Thr89Ser) c.227C>G (p.Thr76Ser) n.536C>G c.137C>G (p.Thr46Ser) c.260C>G (p.Thr87Ser) | |
19 | g.41988066G>T | CA406056631 | ATP1A3 | c.266C>A (p.Thr89Asn) c.227C>A (p.Thr76Asn) n.536C>A c.137C>A (p.Thr46Asn) c.260C>A (p.Thr87Asn) | |
19 | g.41988067T>A | CA406056633 | ATP1A3 | c.265A>T (p.Thr89Ser) c.226A>T (p.Thr76Ser) n.535A>T c.136A>T (p.Thr46Ser) c.259A>T (p.Thr87Ser) | |
19 | g.41988067T>C | CA406056634 | ATP1A3 | c.265A>G (p.Thr89Ala) c.226A>G (p.Thr76Ala) n.535A>G c.136A>G (p.Thr46Ala) c.259A>G (p.Thr87Ala) | |
19 | g.41988067T>G | CA406056636 | ATP1A3 | c.265A>C (p.Thr89Pro) c.226A>C (p.Thr76Pro) n.535A>C c.136A>C (p.Thr46Pro) c.259A>C (p.Thr87Pro) | |
19 | g.41988068G>A | CA507695622 | ATP1A3 | c.264C>T (p.Thr88=) c.225C>T (p.Thr75=) n.534C>T c.135C>T (p.Thr45=) c.258C>T (p.Thr86=) | gnomAD v4 |
19 | g.41988068G>C | CA507695623 | ATP1A3 | c.264C>G (p.Thr88=) c.225C>G (p.Thr75=) n.534C>G c.135C>G (p.Thr45=) c.258C>G (p.Thr86=) | ClinVar |
19 | g.41988068G>T | CA507695624 | ATP1A3 | c.264C>A (p.Thr88=) c.225C>A (p.Thr75=) n.534C>A c.135C>A (p.Thr45=) c.258C>A (p.Thr86=) | gnomAD v4 |
19 | g.41988069G>A | CA406056638 | ATP1A3 | c.263C>T (p.Thr88Ile) c.224C>T (p.Thr75Ile) n.533C>T c.134C>T (p.Thr45Ile) c.257C>T (p.Thr86Ile) | gnomAD v4 |
19 | g.41988069G>C | CA406056639 | ATP1A3 | c.263C>G (p.Thr88Ser) c.224C>G (p.Thr75Ser) n.533C>G c.134C>G (p.Thr45Ser) c.257C>G (p.Thr86Ser) | |
19 | g.41988069G>T | CA406056641 | ATP1A3 | c.263C>A (p.Thr88Asn) c.224C>A (p.Thr75Asn) n.533C>A c.134C>A (p.Thr45Asn) c.257C>A (p.Thr86Asn) | |
19 | g.41988070T>A | CA406056643 | ATP1A3 | c.262A>T (p.Thr88Ser) c.223A>T (p.Thr75Ser) n.532A>T c.133A>T (p.Thr45Ser) c.256A>T (p.Thr86Ser) | |
19 | g.41988070T>C | CA406056644 | ATP1A3 | c.262A>G (p.Thr88Ala) c.223A>G (p.Thr75Ala) n.532A>G c.133A>G (p.Thr45Ala) c.256A>G (p.Thr86Ala) | |
19 | g.41988070T>G | CA406056645 | ATP1A3 | c.262A>C (p.Thr88Pro) c.223A>C (p.Thr75Pro) n.532A>C c.133A>C (p.Thr45Pro) c.256A>C (p.Thr86Pro) | |
19 | g.41988071A>C | CA507695628 | ATP1A3 | c.261T>G (p.Pro87=) c.222T>G (p.Pro74=) n.531T>G c.132T>G (p.Pro44=) c.255T>G (p.Pro85=) | |
19 | g.41988071A>G | CA507695629 | ATP1A3 | c.261T>C (p.Pro87=) c.222T>C (p.Pro74=) n.531T>C c.132T>C (p.Pro44=) c.255T>C (p.Pro85=) | gnomAD v4 |
19 | g.41988071A>T | CA507695630 | ATP1A3 | c.261T>A (p.Pro87=) c.222T>A (p.Pro74=) n.531T>A c.132T>A (p.Pro44=) c.255T>A (p.Pro85=) | |
19 | g.41988072G>A | CA406056651 | ATP1A3 | c.260C>T (p.Pro87Leu) c.221C>T (p.Pro74Leu) n.530C>T c.131C>T (p.Pro44Leu) c.254C>T (p.Pro85Leu) | |
19 | g.41988072G>C | CA406056650 | ATP1A3 | c.260C>G (p.Pro87Arg) c.221C>G (p.Pro74Arg) n.530C>G c.131C>G (p.Pro44Arg) c.254C>G (p.Pro85Arg) | |
19 | g.41988072G>T | CA406056648 | ATP1A3 | c.260C>A (p.Pro87His) c.221C>A (p.Pro74His) n.530C>A c.131C>A (p.Pro44His) c.254C>A (p.Pro85His) | |
19 | g.41988073G>A | CA406056654 | ATP1A3 | c.259C>T (p.Pro87Ser) c.220C>T (p.Pro74Ser) n.529C>T c.130C>T (p.Pro44Ser) c.253C>T (p.Pro85Ser) | |
19 | g.41988073G>C | CA406056655 | ATP1A3 | c.259C>G (p.Pro87Ala) c.220C>G (p.Pro74Ala) n.529C>G c.130C>G (p.Pro44Ala) c.253C>G (p.Pro85Ala) | |
19 | g.41988073G>T | CA406056656 | ATP1A3 | c.259C>A (p.Pro87Thr) c.220C>A (p.Pro74Thr) n.529C>A c.130C>A (p.Pro44Thr) c.253C>A (p.Pro85Thr) | |
19 | g.41988074C>A | CA507695635 | ATP1A3 | c.258G>T (p.Pro86=) c.219G>T (p.Pro73=) n.528G>T c.129G>T (p.Pro43=) c.252G>T (p.Pro84=) | ClinVar |
19 | g.41988074C= | CA2336729302 | ATP1A3 | c.258G= (p.Pro86=) c.219G= (p.Pro73=) n.528G= c.129G= (p.Pro43=) c.252G= (p.Pro84=) | |
19 | g.41988074C>G | CA507695636 | ATP1A3 | c.258G>C (p.Pro86=) c.219G>C (p.Pro73=) n.528G>C c.129G>C (p.Pro43=) c.252G>C (p.Pro84=) | |
19 | g.41988074C>T | CA9467918 | ATP1A3 | c.258G>A (p.Pro86=) c.219G>A (p.Pro73=) n.528G>A c.129G>A (p.Pro43=) c.252G>A (p.Pro84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41988075G>A | CA406056658 | ATP1A3 | c.257C>T (p.Pro86Leu) c.218C>T (p.Pro73Leu) n.527C>T c.128C>T (p.Pro43Leu) c.251C>T (p.Pro84Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.41988075G>C | CA406056659 | ATP1A3 | c.257C>G (p.Pro86Arg) c.218C>G (p.Pro73Arg) n.527C>G c.128C>G (p.Pro43Arg) c.251C>G (p.Pro84Arg) | |
19 | g.41988075G= | CA2336729303 | ATP1A3 | c.257C= (p.Pro86=) c.218C= (p.Pro73=) n.527C= c.128C= (p.Pro43=) c.251C= (p.Pro84=) | |
19 | g.41988075G>T | CA406056661 | ATP1A3 | c.257C>A (p.Pro86Gln) c.218C>A (p.Pro73Gln) n.527C>A c.128C>A (p.Pro43Gln) c.251C>A (p.Pro84Gln) | |
19 | g.41988076G>A | CA406056663 | ATP1A3 | c.256C>T (p.Pro86Ser) c.217C>T (p.Pro73Ser) n.526C>T c.127C>T (p.Pro43Ser) c.250C>T (p.Pro84Ser) | |
19 | g.41988076G>C | CA406056665 | ATP1A3 | c.256C>G (p.Pro86Ala) c.217C>G (p.Pro73Ala) n.526C>G c.127C>G (p.Pro43Ala) c.250C>G (p.Pro84Ala) | |
19 | g.41988076G>T | CA406056667 | ATP1A3 | c.256C>A (p.Pro86Thr) c.217C>A (p.Pro73Thr) n.526C>A c.127C>A (p.Pro43Thr) c.250C>A (p.Pro84Thr) | |
19 | g.41988077T>A | CA507695640 | ATP1A3 | c.255A>T (p.Pro85=) c.216A>T (p.Pro72=) n.525A>T c.126A>T (p.Pro42=) c.249A>T (p.Pro83=) | |
19 | g.41988077T>C | CA507695642 | ATP1A3 | c.255A>G (p.Pro85=) c.216A>G (p.Pro72=) n.525A>G c.126A>G (p.Pro42=) c.249A>G (p.Pro83=) | |
19 | g.41988077T>G | CA507695643 | ATP1A3 | c.255A>C (p.Pro85=) c.216A>C (p.Pro72=) n.525A>C c.126A>C (p.Pro42=) c.249A>C (p.Pro83=) | |
19 | g.41988078G>A | CA406056670 | ATP1A3 | c.254C>T (p.Pro85Leu) c.215C>T (p.Pro72Leu) n.524C>T c.125C>T (p.Pro42Leu) c.248C>T (p.Pro83Leu) | |
19 | g.41988078G>C | CA406056673 | ATP1A3 | c.254C>G (p.Pro85Arg) c.215C>G (p.Pro72Arg) n.524C>G c.125C>G (p.Pro42Arg) c.248C>G (p.Pro83Arg) | |
19 | g.41988078G>T | CA406056676 | ATP1A3 | c.254C>A (p.Pro85Gln) c.215C>A (p.Pro72Gln) n.524C>A c.125C>A (p.Pro42Gln) c.248C>A (p.Pro83Gln) | |
19 | g.41988079G>A | CA406056681 | ATP1A3 | c.253C>T (p.Pro85Ser) c.214C>T (p.Pro72Ser) n.523C>T c.124C>T (p.Pro42Ser) c.247C>T (p.Pro83Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41988079G>C | CA406056684 | ATP1A3 | c.253C>G (p.Pro85Ala) c.214C>G (p.Pro72Ala) n.523C>G c.124C>G (p.Pro42Ala) c.247C>G (p.Pro83Ala) | |
19 | g.41988079G= | CA2336729304 | ATP1A3 | c.253C= (p.Pro85=) c.214C= (p.Pro72=) n.523C= c.124C= (p.Pro42=) c.247C= (p.Pro83=) | |
19 | g.41988079G>T | CA9467919 | ATP1A3 | c.253C>A (p.Pro85Thr) c.214C>A (p.Pro72Thr) n.523C>A c.124C>A (p.Pro42Thr) c.247C>A (p.Pro83Thr) | dbSNP ExAC |
19 | g.41988080C>A | CA507695648 | ATP1A3 | c.252G>T (p.Thr84=) c.213G>T (p.Thr71=) n.522G>T c.123G>T (p.Thr41=) c.246G>T (p.Thr82=) | ClinVar dbSNP |
19 | g.41988080C= | CA2336729305 | ATP1A3 | c.252G= (p.Thr84=) c.213G= (p.Thr71=) n.522G= c.123G= (p.Thr41=) c.246G= (p.Thr82=) | |
19 | g.41988080C>G | CA507695649 | ATP1A3 | c.252G>C (p.Thr84=) c.213G>C (p.Thr71=) n.522G>C c.123G>C (p.Thr41=) c.246G>C (p.Thr82=) | |
19 | g.41988080C>T | CA507695650 | ATP1A3 | c.252G>A (p.Thr84=) c.213G>A (p.Thr71=) n.522G>A c.123G>A (p.Thr41=) c.246G>A (p.Thr82=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41988081G>A | CA406056688 | ATP1A3 | c.251C>T (p.Thr84Met) c.212C>T (p.Thr71Met) n.521C>T c.122C>T (p.Thr41Met) c.245C>T (p.Thr82Met) | gnomAD v4 COSMIC |
19 | g.41988081G>C | CA406056691 | ATP1A3 | c.251C>G (p.Thr84Arg) c.212C>G (p.Thr71Arg) n.521C>G c.122C>G (p.Thr41Arg) c.245C>G (p.Thr82Arg) | |
19 | g.41988081G>T | CA406056692 | ATP1A3 | c.251C>A (p.Thr84Lys) c.212C>A (p.Thr71Lys) n.521C>A c.122C>A (p.Thr41Lys) c.245C>A (p.Thr82Lys) | |
19 | g.41988082T>A | CA406056696 | ATP1A3 | c.250A>T (p.Thr84Ser) c.211A>T (p.Thr71Ser) n.520A>T c.121A>T (p.Thr41Ser) c.244A>T (p.Thr82Ser) | |
19 | g.41988082T>C | CA406056698 | ATP1A3 | c.250A>G (p.Thr84Ala) c.211A>G (p.Thr71Ala) n.520A>G c.121A>G (p.Thr41Ala) c.244A>G (p.Thr82Ala) | |
19 | g.41988082T>G | CA406056700 | ATP1A3 | c.250A>C (p.Thr84Pro) c.211A>C (p.Thr71Pro) n.520A>C c.121A>C (p.Thr41Pro) c.244A>C (p.Thr82Pro) | |
19 | g.41988083G>A | CA507695654 | ATP1A3 | c.249C>T (p.Leu83=) c.210C>T (p.Leu70=) n.519C>T c.120C>T (p.Leu40=) c.243C>T (p.Leu81=) | |
19 | g.41988083G>C | CA507695655 | ATP1A3 | c.249C>G (p.Leu83=) c.210C>G (p.Leu70=) n.519C>G c.120C>G (p.Leu40=) c.243C>G (p.Leu81=) | |
19 | g.41988083G>T | CA507695656 | ATP1A3 | c.249C>A (p.Leu83=) c.210C>A (p.Leu70=) n.519C>A c.120C>A (p.Leu40=) c.243C>A (p.Leu81=) | |
19 | g.41988084A>C | CA406056703 | ATP1A3 | c.248T>G (p.Leu83Arg) c.209T>G (p.Leu70Arg) n.518T>G c.119T>G (p.Leu40Arg) c.242T>G (p.Leu81Arg) | |
19 | g.41988084A>G | CA406056706 | ATP1A3 | c.248T>C (p.Leu83Pro) c.209T>C (p.Leu70Pro) n.518T>C c.119T>C (p.Leu40Pro) c.242T>C (p.Leu81Pro) | |
19 | g.41988084A>T | CA406056708 | ATP1A3 | c.248T>A (p.Leu83His) c.209T>A (p.Leu70His) n.518T>A c.119T>A (p.Leu40His) c.242T>A (p.Leu81His) | |
19 | g.41988085G>A | CA406056711 | ATP1A3 | c.247C>T (p.Leu83Phe) c.208C>T (p.Leu70Phe) n.517C>T c.118C>T (p.Leu40Phe) c.241C>T (p.Leu81Phe) | |
19 | g.41988085G>C | CA406056712 | ATP1A3 | c.247C>G (p.Leu83Val) c.208C>G (p.Leu70Val) n.517C>G c.118C>G (p.Leu40Val) c.241C>G (p.Leu81Val) | |
19 | g.41988085G>T | CA406056715 | ATP1A3 | c.247C>A (p.Leu83Ile) c.208C>A (p.Leu70Ile) n.517C>A c.118C>A (p.Leu40Ile) c.241C>A (p.Leu81Ile) | |
19 | g.41988086T>A | CA9467920 | ATP1A3 | c.246A>T (p.Ala82=) c.207A>T (p.Ala69=) n.516A>T c.117A>T (p.Ala39=) c.240A>T (p.Ala80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41988086T>C | CA507695663 | ATP1A3 | c.246A>G (p.Ala82=) c.207A>G (p.Ala69=) n.516A>G c.117A>G (p.Ala39=) c.240A>G (p.Ala80=) | |
19 | g.41988086T>G | CA9467921 | ATP1A3 | c.246A>C (p.Ala82=) c.207A>C (p.Ala69=) n.516A>C c.117A>C (p.Ala39=) c.240A>C (p.Ala80=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41988086T= | CA2336729306 | ATP1A3 | c.246A= (p.Ala82=) c.207A= (p.Ala69=) n.516A= c.117A= (p.Ala39=) c.240A= (p.Ala80=) | |
19 | g.41988087G>A | CA406056724 | ATP1A3 | c.245C>T (p.Ala82Val) c.206C>T (p.Ala69Val) n.515C>T c.116C>T (p.Ala39Val) c.239C>T (p.Ala80Val) | dbSNP |
19 | g.41988087G>C | CA406056726 | ATP1A3 | c.245C>G (p.Ala82Gly) c.206C>G (p.Ala69Gly) n.515C>G c.116C>G (p.Ala39Gly) c.239C>G (p.Ala80Gly) | |
19 | g.41988087G>T | CA406056728 | ATP1A3 | c.245C>A (p.Ala82Glu) c.206C>A (p.Ala69Glu) n.515C>A c.116C>A (p.Ala39Glu) c.239C>A (p.Ala80Glu) | |
19 | g.41988088C>A | CA406056729 | ATP1A3 | c.244G>T (p.Ala82Ser) c.205G>T (p.Ala69Ser) n.514G>T c.115G>T (p.Ala39Ser) c.238G>T (p.Ala80Ser) | |
19 | g.41988088C>G | CA406056731 | ATP1A3 | c.244G>C (p.Ala82Pro) c.205G>C (p.Ala69Pro) n.514G>C c.115G>C (p.Ala39Pro) c.238G>C (p.Ala80Pro) | |
19 | g.41988088C>T | CA406056733 | ATP1A3 | c.244G>A (p.Ala82Thr) c.205G>A (p.Ala69Thr) n.514G>A c.115G>A (p.Ala39Thr) c.238G>A (p.Ala80Thr) | gnomAD v4 COSMIC |
19 | g.41988089G>A | CA9467922 | ATP1A3 | c.243C>T (p.Asn81=) c.204C>T (p.Asn68=) n.513C>T c.114C>T (p.Asn38=) c.237C>T (p.Asn79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41988089G>C | CA406056737 | ATP1A3 | c.243C>G (p.Asn81Lys) c.204C>G (p.Asn68Lys) n.513C>G c.114C>G (p.Asn38Lys) c.237C>G (p.Asn79Lys) | |
19 | g.41988089G= | CA2336729307 | ATP1A3 | c.243C= (p.Asn81=) c.204C= (p.Asn68=) n.513C= c.114C= (p.Asn38=) c.237C= (p.Asn79=) | |
19 | g.41988089G>T | CA406056740 | ATP1A3 | c.243C>A (p.Asn81Lys) c.204C>A (p.Asn68Lys) n.513C>A c.114C>A (p.Asn38Lys) c.237C>A (p.Asn79Lys) | |
19 | g.41988090T>A | CA406056744 | ATP1A3 | c.242A>T (p.Asn81Ile) c.203A>T (p.Asn68Ile) n.512A>T c.113A>T (p.Asn38Ile) c.236A>T (p.Asn79Ile) | |
19 | g.41988090T>C | CA406056746 | ATP1A3 | c.242A>G (p.Asn81Ser) c.203A>G (p.Asn68Ser) n.512A>G c.113A>G (p.Asn38Ser) c.236A>G (p.Asn79Ser) | |
19 | g.41988090T>G | CA406056749 | ATP1A3 | c.242A>C (p.Asn81Thr) c.203A>C (p.Asn68Thr) n.512A>C c.113A>C (p.Asn38Thr) c.236A>C (p.Asn79Thr) | gnomAD v4 |
19 | g.41988091T>A | CA406056756 | ATP1A3 | c.241A>T (p.Asn81Tyr) c.202A>T (p.Asn68Tyr) n.511A>T c.112A>T (p.Asn38Tyr) c.235A>T (p.Asn79Tyr) | |
19 | g.41988091T>C | CA406056754 | ATP1A3 | c.241A>G (p.Asn81Asp) c.202A>G (p.Asn68Asp) n.511A>G c.112A>G (p.Asn38Asp) c.235A>G (p.Asn79Asp) | |
19 | g.41988091T>G | CA406056752 | ATP1A3 | c.241A>C (p.Asn81His) c.202A>C (p.Asn68His) n.511A>C c.112A>C (p.Asn38His) c.235A>C (p.Asn79His) | |
19 | g.41988092A= | CA2336729308 | ATP1A3 | c.240T= (p.Pro80=) c.201T= (p.Pro67=) n.510T= c.111T= (p.Pro37=) c.234T= (p.Pro78=) | |
19 | g.41988092A>C | CA507695667 | ATP1A3 | c.240T>G (p.Pro80=) c.201T>G (p.Pro67=) n.510T>G c.111T>G (p.Pro37=) c.234T>G (p.Pro78=) | |
19 | g.41988092A>G | CA9467923 | ATP1A3 | c.240T>C (p.Pro80=) c.201T>C (p.Pro67=) n.510T>C c.111T>C (p.Pro37=) c.234T>C (p.Pro78=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41988092A>T | CA9467924 | ATP1A3 | c.240T>A (p.Pro80=) c.201T>A (p.Pro67=) n.510T>A c.111T>A (p.Pro37=) c.234T>A (p.Pro78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41988093G>A | CA406056763 | ATP1A3 | c.239C>T (p.Pro80Leu) c.200C>T (p.Pro67Leu) n.509C>T c.110C>T (p.Pro37Leu) c.233C>T (p.Pro78Leu) | COSMIC |
19 | g.41988093G>C | CA406056766 | ATP1A3 | c.239C>G (p.Pro80Arg) c.200C>G (p.Pro67Arg) n.509C>G c.110C>G (p.Pro37Arg) c.233C>G (p.Pro78Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41988093G= | CA2336729309 | ATP1A3 | c.239C= (p.Pro80=) c.200C= (p.Pro67=) n.509C= c.110C= (p.Pro37=) c.233C= (p.Pro78=) | |
19 | g.41988093G>T | CA406056769 | ATP1A3 | c.239C>A (p.Pro80His) c.200C>A (p.Pro67His) n.509C>A c.110C>A (p.Pro37His) c.233C>A (p.Pro78His) | |
19 | g.41988094G>A | CA406056772 | ATP1A3 | c.238C>T (p.Pro80Ser) c.199C>T (p.Pro67Ser) n.508C>T c.109C>T (p.Pro37Ser) c.232C>T (p.Pro78Ser) | ClinVar |
19 | g.41988094G>C | CA406056774 | ATP1A3 | c.238C>G (p.Pro80Ala) c.199C>G (p.Pro67Ala) n.508C>G c.109C>G (p.Pro37Ala) c.232C>G (p.Pro78Ala) | gnomAD v4 |
19 | g.41988094G>T | CA406056777 | ATP1A3 | c.238C>A (p.Pro80Thr) c.199C>A (p.Pro67Thr) n.508C>A c.109C>A (p.Pro37Thr) c.232C>A (p.Pro78Thr) | |
19 | g.41988095C>A | CA507695670 | ATP1A3 | c.237G>T (p.Gly79=) c.198G>T (p.Gly66=) n.507G>T c.108G>T (p.Gly36=) c.231G>T (p.Gly77=) | |
19 | g.41988095C>G | CA507695669 | ATP1A3 | c.237G>C (p.Gly79=) c.198G>C (p.Gly66=) n.507G>C c.108G>C (p.Gly36=) c.231G>C (p.Gly77=) | |
19 | g.41988095C>T | CA507695668 | ATP1A3 | c.237G>A (p.Gly79=) c.198G>A (p.Gly66=) n.507G>A c.108G>A (p.Gly36=) c.231G>A (p.Gly77=) | |
19 | g.41988096C>A | CA406056784 | ATP1A3 | c.236G>T (p.Gly79Val) c.197G>T (p.Gly66Val) n.506G>T c.107G>T (p.Gly36Val) c.230G>T (p.Gly77Val) | |
19 | g.41988096C>G | CA406056779 | ATP1A3 | c.236G>C (p.Gly79Ala) c.197G>C (p.Gly66Ala) n.506G>C c.107G>C (p.Gly36Ala) c.230G>C (p.Gly77Ala) | |
19 | g.41988096C>T | CA406056782 | ATP1A3 | c.236G>A (p.Gly79Glu) c.197G>A (p.Gly66Glu) n.506G>A c.107G>A (p.Gly36Glu) c.230G>A (p.Gly77Glu) | |
19 | g.41988097C>A | CA406056787 | ATP1A3 | c.235G>T (p.Gly79Trp) c.196G>T (p.Gly66Trp) n.505G>T c.106G>T (p.Gly36Trp) c.229G>T (p.Gly77Trp) | |
19 | g.41988097C>G | CA406056789 | ATP1A3 | c.235G>C (p.Gly79Arg) c.196G>C (p.Gly66Arg) n.505G>C c.106G>C (p.Gly36Arg) c.229G>C (p.Gly77Arg) | |
19 | g.41988097C>T | CA406056791 | ATP1A3 | c.235G>A (p.Gly79Arg) c.196G>A (p.Gly66Arg) n.505G>A c.106G>A (p.Gly36Arg) c.229G>A (p.Gly77Arg) | ClinVar dbSNP |
19 | g.41988098A>C | CA406056793 | ATP1A3 | c.234T>G (p.Asp78Glu) c.195T>G (p.Asp65Glu) n.504T>G c.105T>G (p.Asp35Glu) c.228T>G (p.Asp76Glu) | |
19 | g.41988098A>G | CA507695671 | ATP1A3 | c.234T>C (p.Asp78=) c.195T>C (p.Asp65=) n.504T>C c.105T>C (p.Asp35=) c.228T>C (p.Asp76=) | gnomAD v4 |
19 | g.41988098A>T | CA406056795 | ATP1A3 | c.234T>A (p.Asp78Glu) c.195T>A (p.Asp65Glu) n.504T>A c.105T>A (p.Asp35Glu) c.228T>A (p.Asp76Glu) | |
19 | g.41988099T>A | CA406056798 | ATP1A3 | c.233A>T (p.Asp78Val) c.194A>T (p.Asp65Val) n.503A>T c.104A>T (p.Asp35Val) c.227A>T (p.Asp76Val) | |
19 | g.41988099T>C | CA406056803 | ATP1A3 | c.233A>G (p.Asp78Gly) c.194A>G (p.Asp65Gly) n.503A>G c.104A>G (p.Asp35Gly) c.227A>G (p.Asp76Gly) | |
19 | g.41988099T>G | CA406056799 | ATP1A3 | c.233A>C (p.Asp78Ala) c.194A>C (p.Asp65Ala) n.503A>C c.104A>C (p.Asp35Ala) c.227A>C (p.Asp76Ala) | |
19 | g.41988100C>A | CA406056806 | ATP1A3 | c.232G>T (p.Asp78Tyr) c.193G>T (p.Asp65Tyr) n.502G>T c.103G>T (p.Asp35Tyr) c.226G>T (p.Asp76Tyr) | |
19 | g.41988100C= | CA2336729310 | ATP1A3 | c.232G= (p.Asp78=) c.193G= (p.Asp65=) n.502G= c.103G= (p.Asp35=) c.226G= (p.Asp76=) | |
19 | g.41988100C>G | CA406056807 | ATP1A3 | c.232G>C (p.Asp78His) c.193G>C (p.Asp65His) n.502G>C c.103G>C (p.Asp35His) c.226G>C (p.Asp76His) | |
19 | g.41988100C>T | CA406056809 | ATP1A3 | c.232G>A (p.Asp78Asn) c.193G>A (p.Asp65Asn) n.502G>A c.103G>A (p.Asp35Asn) c.226G>A (p.Asp76Asn) | dbSNP COSMIC |
19 | g.41988101C>A | CA507695672 | ATP1A3 | c.231G>T (p.Arg77=) c.192G>T (p.Arg64=) n.501G>T c.102G>T (p.Arg34=) c.225G>T (p.Arg75=) | |
19 | g.41988101C= | CA2336729311 | ATP1A3 | c.231G= (p.Arg77=) c.192G= (p.Arg64=) n.501G= c.102G= (p.Arg34=) c.225G= (p.Arg75=) | |
19 | g.41988101C>G | CA507695673 | ATP1A3 | c.231G>C (p.Arg77=) c.192G>C (p.Arg64=) n.501G>C c.102G>C (p.Arg34=) c.225G>C (p.Arg75=) | |
19 | g.41988101C>T | CA9467925 | ATP1A3 | c.231G>A (p.Arg77=) c.192G>A (p.Arg64=) n.501G>A c.102G>A (p.Arg34=) c.225G>A (p.Arg75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41988102C>A | CA406056813 | ATP1A3 | c.230G>T (p.Arg77Leu) c.191G>T (p.Arg64Leu) n.500G>T c.101G>T (p.Arg34Leu) c.224G>T (p.Arg75Leu) | |
19 | g.41988102C= | CA2336729312 | ATP1A3 | c.230G= (p.Arg77=) c.191G= (p.Arg64=) n.500G= c.101G= (p.Arg34=) c.224G= (p.Arg75=) | |
19 | g.41988102C>G | CA406056814 | ATP1A3 | c.230G>C (p.Arg77Pro) c.191G>C (p.Arg64Pro) n.500G>C c.101G>C (p.Arg34Pro) c.224G>C (p.Arg75Pro) | |
19 | g.41988102C>T | CA9467926 | ATP1A3 | c.230G>A (p.Arg77Gln) c.191G>A (p.Arg64Gln) n.500G>A c.101G>A (p.Arg34Gln) c.224G>A (p.Arg75Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |