Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41970501T>A | CA406039643 | ATP1A3 | c.2344A>T (p.Thr782Ser) c.2305A>T (p.Thr769Ser) c.2338A>T (p.Thr780Ser) c.2215A>T (p.Thr739Ser) | gnomAD v4 |
19 | g.41970501T>C | CA406039644 | ATP1A3 | c.2344A>G (p.Thr782Ala) c.2305A>G (p.Thr769Ala) c.2338A>G (p.Thr780Ala) c.2215A>G (p.Thr739Ala) | |
19 | g.41970501T>G | CA406039646 | ATP1A3 | c.2344A>C (p.Thr782Pro) c.2305A>C (p.Thr769Pro) c.2338A>C (p.Thr780Pro) c.2215A>C (p.Thr739Pro) | |
19 | g.41970502G>A | CA507583189 | ATP1A3 | c.2343C>T (p.Tyr781=) c.2304C>T (p.Tyr768=) c.2337C>T (p.Tyr779=) c.2214C>T (p.Tyr738=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970502G>C | CA406039648 | ATP1A3 | c.2343C>G (p.Tyr781Ter) c.2304C>G (p.Tyr768Ter) c.2337C>G (p.Tyr779Ter) c.2214C>G (p.Tyr738Ter) | |
19 | g.41970502G= | CA2336721054 | ATP1A3 | c.2343C= (p.Tyr781=) c.2304C= (p.Tyr768=) c.2337C= (p.Tyr779=) c.2214C= (p.Tyr738=) | |
19 | g.41970502G>T | CA406039649 | ATP1A3 | c.2343C>A (p.Tyr781Ter) c.2304C>A (p.Tyr768Ter) c.2337C>A (p.Tyr779Ter) c.2214C>A (p.Tyr738Ter) | |
19 | g.41970503T>A | CA406039651 | ATP1A3 | c.2342A>T (p.Tyr781Phe) c.2303A>T (p.Tyr768Phe) c.2336A>T (p.Tyr779Phe) c.2213A>T (p.Tyr738Phe) | |
19 | g.41970503T>C | CA406039653 | ATP1A3 | c.2342A>G (p.Tyr781Cys) c.2303A>G (p.Tyr768Cys) c.2336A>G (p.Tyr779Cys) c.2213A>G (p.Tyr738Cys) | ClinVar dbSNP |
19 | g.41970503T>G | CA406039654 | ATP1A3 | c.2342A>C (p.Tyr781Ser) c.2303A>C (p.Tyr768Ser) c.2336A>C (p.Tyr779Ser) c.2213A>C (p.Tyr738Ser) | |
19 | g.41970503T= | CA2336721056 | ATP1A3 | c.2342A= (p.Tyr781=) c.2303A= (p.Tyr768=) c.2336A= (p.Tyr779=) c.2213A= (p.Tyr738=) | |
19 | g.41970504A>C | CA406039656 | ATP1A3 | c.2341T>G (p.Tyr781Asp) c.2302T>G (p.Tyr768Asp) c.2335T>G (p.Tyr779Asp) c.2212T>G (p.Tyr738Asp) | |
19 | g.41970504A>G | CA406039657 | ATP1A3 | c.2341T>C (p.Tyr781His) c.2302T>C (p.Tyr768His) c.2335T>C (p.Tyr779His) c.2212T>C (p.Tyr738His) | ClinVar |
19 | g.41970504A>T | CA406039659 | ATP1A3 | c.2341T>A (p.Tyr781Asn) c.2302T>A (p.Tyr768Asn) c.2335T>A (p.Tyr779Asn) c.2212T>A (p.Tyr738Asn) | |
19 | g.41970505G>A | CA507583195 | ATP1A3 | c.2340C>T (p.Ala780=) c.2301C>T (p.Ala767=) c.2334C>T (p.Ala778=) c.2211C>T (p.Ala737=) | |
19 | g.41970505G>C | CA507583193 | ATP1A3 | c.2340C>G (p.Ala780=) c.2301C>G (p.Ala767=) c.2334C>G (p.Ala778=) c.2211C>G (p.Ala737=) | |
19 | g.41970505G= | CA2336721061 | ATP1A3 | c.2340C= (p.Ala780=) c.2301C= (p.Ala767=) c.2334C= (p.Ala778=) c.2211C= (p.Ala737=) | |
19 | g.41970505G>T | CA507583194 | ATP1A3 | c.2340C>A (p.Ala780=) c.2301C>A (p.Ala767=) c.2334C>A (p.Ala778=) c.2211C>A (p.Ala737=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970506G>A | CA406039664 | ATP1A3 | c.2339C>T (p.Ala780Val) c.2300C>T (p.Ala767Val) c.2333C>T (p.Ala778Val) c.2210C>T (p.Ala737Val) | gnomAD v4 |
19 | g.41970506G>C | CA406039661 | ATP1A3 | c.2339C>G (p.Ala780Gly) c.2300C>G (p.Ala767Gly) c.2333C>G (p.Ala778Gly) c.2210C>G (p.Ala737Gly) | |
19 | g.41970506G>T | CA406039663 | ATP1A3 | c.2339C>A (p.Ala780Asp) c.2300C>A (p.Ala767Asp) c.2333C>A (p.Ala778Asp) c.2210C>A (p.Ala737Asp) | |
19 | g.41970507C>A | CA406039666 | ATP1A3 | c.2338G>T (p.Ala780Ser) c.2299G>T (p.Ala767Ser) c.2332G>T (p.Ala778Ser) c.2209G>T (p.Ala737Ser) | |
19 | g.41970507C>G | CA406039668 | ATP1A3 | c.2338G>C (p.Ala780Pro) c.2299G>C (p.Ala767Pro) c.2332G>C (p.Ala778Pro) c.2209G>C (p.Ala737Pro) | |
19 | g.41970507C>T | CA406039669 | ATP1A3 | c.2338G>A (p.Ala780Thr) c.2299G>A (p.Ala767Thr) c.2332G>A (p.Ala778Thr) c.2209G>A (p.Ala737Thr) | |
19 | g.41970508A>C | CA406039671 | ATP1A3 | c.2337T>G (p.Ile779Met) c.2298T>G (p.Ile766Met) c.2331T>G (p.Ile777Met) c.2208T>G (p.Ile736Met) | |
19 | g.41970508A>G | CA507583199 | ATP1A3 | c.2337T>C (p.Ile779=) c.2298T>C (p.Ile766=) c.2331T>C (p.Ile777=) c.2208T>C (p.Ile736=) | |
19 | g.41970508A>T | CA507583198 | ATP1A3 | c.2337T>A (p.Ile779=) c.2298T>A (p.Ile766=) c.2331T>A (p.Ile777=) c.2208T>A (p.Ile736=) | |
19 | g.41970509A>C | CA406039673 | ATP1A3 | c.2336T>G (p.Ile779Ser) c.2297T>G (p.Ile766Ser) c.2330T>G (p.Ile777Ser) c.2207T>G (p.Ile736Ser) | |
19 | g.41970509A>G | CA406039674 | ATP1A3 | c.2336T>C (p.Ile779Thr) c.2297T>C (p.Ile766Thr) c.2330T>C (p.Ile777Thr) c.2207T>C (p.Ile736Thr) | gnomAD v4 |
19 | g.41970509A>T | CA406039676 | ATP1A3 | c.2336T>A (p.Ile779Asn) c.2297T>A (p.Ile766Asn) c.2330T>A (p.Ile777Asn) c.2207T>A (p.Ile736Asn) | |
19 | g.41970510T>A | CA406039677 | ATP1A3 | c.2335A>T (p.Ile779Phe) c.2296A>T (p.Ile766Phe) c.2329A>T (p.Ile777Phe) c.2206A>T (p.Ile736Phe) | |
19 | g.41970510T>C | CA406039679 | ATP1A3 | c.2335A>G (p.Ile779Val) c.2296A>G (p.Ile766Val) c.2329A>G (p.Ile777Val) c.2206A>G (p.Ile736Val) | |
19 | g.41970510T>G | CA406039681 | ATP1A3 | c.2335A>C (p.Ile779Leu) c.2296A>C (p.Ile766Leu) c.2329A>C (p.Ile777Leu) c.2206A>C (p.Ile736Leu) | |
19 | g.41970511G>A | CA9467416 | ATP1A3 | c.2334C>T (p.Ser778=) c.2295C>T (p.Ser765=) c.2328C>T (p.Ser776=) c.2205C>T (p.Ser735=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.41970511G>C | CA507583208 | ATP1A3 | c.2334C>G (p.Ser778=) c.2295C>G (p.Ser765=) c.2328C>G (p.Ser776=) c.2205C>G (p.Ser735=) | |
19 | g.41970511G= | CA2336721063 | ATP1A3 | c.2334C= (p.Ser778=) c.2295C= (p.Ser765=) c.2328C= (p.Ser776=) c.2205C= (p.Ser735=) | |
19 | g.41970511G>T | CA507583207 | ATP1A3 | c.2334C>A (p.Ser778=) c.2295C>A (p.Ser765=) c.2328C>A (p.Ser776=) c.2205C>A (p.Ser735=) | |
19 | g.41970512G>A | CA406039686 | ATP1A3 | c.2333C>T (p.Ser778Phe) c.2294C>T (p.Ser765Phe) c.2327C>T (p.Ser776Phe) c.2204C>T (p.Ser735Phe) | |
19 | g.41970512G>C | CA406039685 | ATP1A3 | c.2333C>G (p.Ser778Cys) c.2294C>G (p.Ser765Cys) c.2327C>G (p.Ser776Cys) c.2204C>G (p.Ser735Cys) | |
19 | g.41970512G>T | CA406039683 | ATP1A3 | c.2333C>A (p.Ser778Tyr) c.2294C>A (p.Ser765Tyr) c.2327C>A (p.Ser776Tyr) c.2204C>A (p.Ser735Tyr) | |
19 | g.41970513A>C | CA406039688 | ATP1A3 | c.2332T>G (p.Ser778Ala) c.2293T>G (p.Ser765Ala) c.2326T>G (p.Ser776Ala) c.2203T>G (p.Ser735Ala) | |
19 | g.41970513A>G | CA406039689 | ATP1A3 | c.2332T>C (p.Ser778Pro) c.2293T>C (p.Ser765Pro) c.2326T>C (p.Ser776Pro) c.2203T>C (p.Ser735Pro) | |
19 | g.41970513A>T | CA406039690 | ATP1A3 | c.2332T>A (p.Ser778Thr) c.2293T>A (p.Ser765Thr) c.2326T>A (p.Ser776Thr) c.2203T>A (p.Ser735Thr) | |
19 | g.41970514C>A | CA406039692 | ATP1A3 | c.2331G>T (p.Lys777Asn) c.2292G>T (p.Lys764Asn) c.2325G>T (p.Lys775Asn) c.2202G>T (p.Lys734Asn) | |
19 | g.41970514C>G | CA406039694 | ATP1A3 | c.2331G>C (p.Lys777Asn) c.2292G>C (p.Lys764Asn) c.2325G>C (p.Lys775Asn) c.2202G>C (p.Lys734Asn) | |
19 | g.41970514C>T | CA507583211 | ATP1A3 | c.2331G>A (p.Lys777=) c.2292G>A (p.Lys764=) c.2325G>A (p.Lys775=) c.2202G>A (p.Lys734=) | |
19 | g.41970517_41970519del | CA2573105901 | ATP1A3 | c.2329_2331del (p.Lys777del) c.2290_2292del (p.Lys764del) c.2323_2325del (p.Lys775del) c.2200_2202del (p.Lys734del) | |
19 | g.41970515T>A | CA406039695 | ATP1A3 | c.2330A>T (p.Lys777Met) c.2291A>T (p.Lys764Met) c.2324A>T (p.Lys775Met) c.2201A>T (p.Lys734Met) | |
19 | g.41970515T>C | CA406039697 | ATP1A3 | c.2330A>G (p.Lys777Arg) c.2291A>G (p.Lys764Arg) c.2324A>G (p.Lys775Arg) c.2201A>G (p.Lys734Arg) | |
19 | g.41970515T>G | CA406039698 | ATP1A3 | c.2330A>C (p.Lys777Thr) c.2291A>C (p.Lys764Thr) c.2324A>C (p.Lys775Thr) c.2201A>C (p.Lys734Thr) | |
19 | g.41970516T>A | CA406039700 | ATP1A3 | c.2329A>T (p.Lys777Ter) c.2290A>T (p.Lys764Ter) c.2323A>T (p.Lys775Ter) c.2200A>T (p.Lys734Ter) | |
19 | g.41970516T>C | CA406039701 | ATP1A3 | c.2329A>G (p.Lys777Glu) c.2290A>G (p.Lys764Glu) c.2323A>G (p.Lys775Glu) c.2200A>G (p.Lys734Glu) | |
19 | g.41970516T>G | CA406039703 | ATP1A3 | c.2329A>C (p.Lys777Gln) c.2290A>C (p.Lys764Gln) c.2323A>C (p.Lys775Gln) c.2200A>C (p.Lys734Gln) | |
19 | g.41970517C>A | CA406039704 | ATP1A3 | c.2328G>T (p.Lys776Asn) c.2289G>T (p.Lys763Asn) c.2322G>T (p.Lys774Asn) c.2199G>T (p.Lys733Asn) | |
19 | g.41970517C>G | CA406039706 | ATP1A3 | c.2328G>C (p.Lys776Asn) c.2289G>C (p.Lys763Asn) c.2322G>C (p.Lys774Asn) c.2199G>C (p.Lys733Asn) | |
19 | g.41970517C>T | CA507583218 | ATP1A3 | c.2328G>A (p.Lys776=) c.2289G>A (p.Lys763=) c.2322G>A (p.Lys774=) c.2199G>A (p.Lys733=) | |
19 | g.41970518T>A | CA406039711 | ATP1A3 | c.2327A>T (p.Lys776Met) c.2288A>T (p.Lys763Met) c.2321A>T (p.Lys774Met) c.2198A>T (p.Lys733Met) | |
19 | g.41970518T>C | CA406039709 | ATP1A3 | c.2327A>G (p.Lys776Arg) c.2288A>G (p.Lys763Arg) c.2321A>G (p.Lys774Arg) c.2198A>G (p.Lys733Arg) | |
19 | g.41970518T>G | CA406039708 | ATP1A3 | c.2327A>C (p.Lys776Thr) c.2288A>C (p.Lys763Thr) c.2321A>C (p.Lys774Thr) c.2198A>C (p.Lys733Thr) | |
19 | g.41970519T>A | CA406039713 | ATP1A3 | c.2326A>T (p.Lys776Ter) c.2287A>T (p.Lys763Ter) c.2320A>T (p.Lys774Ter) c.2197A>T (p.Lys733Ter) | |
19 | g.41970519T>C | CA406039714 | ATP1A3 | c.2326A>G (p.Lys776Glu) c.2287A>G (p.Lys763Glu) c.2320A>G (p.Lys774Glu) c.2197A>G (p.Lys733Glu) | |
19 | g.41970519T>G | CA406039716 | ATP1A3 | c.2326A>C (p.Lys776Gln) c.2287A>C (p.Lys763Gln) c.2320A>C (p.Lys774Gln) c.2197A>C (p.Lys733Gln) | |
19 | g.41970520T>A | CA507583227 | ATP1A3 | c.2325A>T (p.Leu775=) c.2286A>T (p.Leu762=) c.2319A>T (p.Leu773=) c.2196A>T (p.Leu732=) | |
19 | g.41970520T>C | CA507583228 | ATP1A3 | c.2325A>G (p.Leu775=) c.2286A>G (p.Leu762=) c.2319A>G (p.Leu773=) c.2196A>G (p.Leu732=) | |
19 | g.41970520T>G | CA507583229 | ATP1A3 | c.2325A>C (p.Leu775=) c.2286A>C (p.Leu762=) c.2319A>C (p.Leu773=) c.2196A>C (p.Leu732=) | |
19 | g.41970521A>C | CA406039717 | ATP1A3 | c.2324T>G (p.Leu775Arg) c.2285T>G (p.Leu762Arg) c.2318T>G (p.Leu773Arg) c.2195T>G (p.Leu732Arg) | |
19 | g.41970521A>G | CA406039719 | ATP1A3 | c.2324T>C (p.Leu775Pro) c.2285T>C (p.Leu762Pro) c.2318T>C (p.Leu773Pro) c.2195T>C (p.Leu732Pro) | |
19 | g.41970521A>T | CA406039720 | ATP1A3 | c.2324T>A (p.Leu775Gln) c.2285T>A (p.Leu762Gln) c.2318T>A (p.Leu773Gln) c.2195T>A (p.Leu732Gln) | |
19 | g.41970522G>A | CA507583233 | ATP1A3 | c.2323C>T (p.Leu775=) c.2284C>T (p.Leu762=) c.2317C>T (p.Leu773=) c.2194C>T (p.Leu732=) | |
19 | g.41970522G>C | CA406039722 | ATP1A3 | c.2323C>G (p.Leu775Val) c.2284C>G (p.Leu762Val) c.2317C>G (p.Leu773Val) c.2194C>G (p.Leu732Val) | |
19 | g.41970522G>T | CA406039724 | ATP1A3 | c.2323C>A (p.Leu775Ile) c.2284C>A (p.Leu762Ile) c.2317C>A (p.Leu773Ile) c.2194C>A (p.Leu732Ile) | |
19 | g.41970523G>A | CA308586654 | ATP1A3 | c.2322C>T (p.Asn774=) c.2283C>T (p.Asn761=) c.2316C>T (p.Asn772=) c.2193C>T (p.Asn731=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970523G>C | CA406039725 | ATP1A3 | c.2322C>G (p.Asn774Lys) c.2283C>G (p.Asn761Lys) c.2316C>G (p.Asn772Lys) c.2193C>G (p.Asn731Lys) | |
19 | g.41970523G= | CA2336721065 | ATP1A3 | c.2322C= (p.Asn774=) c.2283C= (p.Asn761=) c.2316C= (p.Asn772=) c.2193C= (p.Asn731=) | |
19 | g.41970523G>T | CA406039727 | ATP1A3 | c.2322C>A (p.Asn774Lys) c.2283C>A (p.Asn761Lys) c.2316C>A (p.Asn772Lys) c.2193C>A (p.Asn731Lys) | |
19 | g.41970524T>A | CA406039729 | ATP1A3 | c.2321A>T (p.Asn774Ile) c.2282A>T (p.Asn761Ile) c.2315A>T (p.Asn772Ile) c.2192A>T (p.Asn731Ile) | |
19 | g.41970524T>C | CA406039731 | ATP1A3 | c.2321A>G (p.Asn774Ser) c.2282A>G (p.Asn761Ser) c.2315A>G (p.Asn772Ser) c.2192A>G (p.Asn731Ser) | |
19 | g.41970524T>G | CA406039732 | ATP1A3 | c.2321A>C (p.Asn774Thr) c.2282A>C (p.Asn761Thr) c.2315A>C (p.Asn772Thr) c.2192A>C (p.Asn731Thr) | |
19 | g.41970525T>A | CA406039737 | ATP1A3 | c.2320A>T (p.Asn774Tyr) c.2281A>T (p.Asn761Tyr) c.2314A>T (p.Asn772Tyr) c.2191A>T (p.Asn731Tyr) | |
19 | g.41970525T>C | CA406039736 | ATP1A3 | c.2320A>G (p.Asn774Asp) c.2281A>G (p.Asn761Asp) c.2314A>G (p.Asn772Asp) c.2191A>G (p.Asn731Asp) | |
19 | g.41970525T>G | CA406039734 | ATP1A3 | c.2320A>C (p.Asn774His) c.2281A>C (p.Asn761His) c.2314A>C (p.Asn772His) c.2191A>C (p.Asn731His) | |
19 | g.41970526G>A | CA507583243 | ATP1A3 | c.2319C>T (p.Asp773=) c.2280C>T (p.Asp760=) c.2313C>T (p.Asp771=) c.2190C>T (p.Asp730=) | ClinVar dbSNP gnomAD v4 |
19 | g.41970526G>C | CA406039739 | ATP1A3 | c.2319C>G (p.Asp773Glu) c.2280C>G (p.Asp760Glu) c.2313C>G (p.Asp771Glu) c.2190C>G (p.Asp730Glu) | |
19 | g.41970526G= | CA2336721068 | ATP1A3 | c.2319C= (p.Asp773=) c.2280C= (p.Asp760=) c.2313C= (p.Asp771=) c.2190C= (p.Asp730=) | |
19 | g.41970526G>T | CA406039740 | ATP1A3 | c.2319C>A (p.Asp773Glu) c.2280C>A (p.Asp760Glu) c.2313C>A (p.Asp771Glu) c.2190C>A (p.Asp730Glu) | |
19 | g.41970527T>A | CA406039742 | ATP1A3 | c.2318A>T (p.Asp773Val) c.2279A>T (p.Asp760Val) c.2312A>T (p.Asp771Val) c.2189A>T (p.Asp730Val) | |
19 | g.41970527T>C | CA406039744 | ATP1A3 | c.2318A>G (p.Asp773Gly) c.2279A>G (p.Asp760Gly) c.2312A>G (p.Asp771Gly) c.2189A>G (p.Asp730Gly) | |
19 | g.41970527T>G | CA406039745 | ATP1A3 | c.2318A>C (p.Asp773Ala) c.2279A>C (p.Asp760Ala) c.2312A>C (p.Asp771Ala) c.2189A>C (p.Asp730Ala) | |
19 | g.41970528C>A | CA406039750 | ATP1A3 | c.2317G>T (p.Asp773Tyr) c.2278G>T (p.Asp760Tyr) c.2311G>T (p.Asp771Tyr) c.2188G>T (p.Asp730Tyr) | |
19 | g.41970528C= | CA2336721069 | ATP1A3 | c.2317G= (p.Asp773=) c.2278G= (p.Asp760=) c.2311G= (p.Asp771=) c.2188G= (p.Asp730=) | |
19 | g.41970528C>G | CA406039749 | ATP1A3 | c.2317G>C (p.Asp773His) c.2278G>C (p.Asp760His) c.2311G>C (p.Asp771His) c.2188G>C (p.Asp730His) | gnomAD v4 |
19 | g.41970528C>T | CA406039747 | ATP1A3 | c.2317G>A (p.Asp773Asn) c.2278G>A (p.Asp760Asn) c.2311G>A (p.Asp771Asn) c.2188G>A (p.Asp730Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970529G>A | CA9467417 | ATP1A3 | c.2316C>T (p.Phe772=) c.2277C>T (p.Phe759=) c.2310C>T (p.Phe770=) c.2187C>T (p.Phe729=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970529G>C | CA406039752 | ATP1A3 | c.2316C>G (p.Phe772Leu) c.2277C>G (p.Phe759Leu) c.2310C>G (p.Phe770Leu) c.2187C>G (p.Phe729Leu) | |
19 | g.41970529G= | CA2336721074 | ATP1A3 | c.2316C= (p.Phe772=) c.2277C= (p.Phe759=) c.2310C= (p.Phe770=) c.2187C= (p.Phe729=) | |
19 | g.41970529G>T | CA406039754 | ATP1A3 | c.2316C>A (p.Phe772Leu) c.2277C>A (p.Phe759Leu) c.2310C>A (p.Phe770Leu) c.2187C>A (p.Phe729Leu) | |
19 | g.41970530A>C | CA406039756 | ATP1A3 | c.2315T>G (p.Phe772Cys) c.2276T>G (p.Phe759Cys) c.2309T>G (p.Phe770Cys) c.2186T>G (p.Phe729Cys) | |
19 | g.41970530A>G | CA406039757 | ATP1A3 | c.2315T>C (p.Phe772Ser) c.2276T>C (p.Phe759Ser) c.2309T>C (p.Phe770Ser) c.2186T>C (p.Phe729Ser) | |
19 | g.41970530A>T | CA406039758 | ATP1A3 | c.2315T>A (p.Phe772Tyr) c.2276T>A (p.Phe759Tyr) c.2309T>A (p.Phe770Tyr) c.2186T>A (p.Phe729Tyr) | |
19 | g.41970531A>C | CA406039763 | ATP1A3 | c.2314T>G (p.Phe772Val) c.2275T>G (p.Phe759Val) c.2308T>G (p.Phe770Val) c.2185T>G (p.Phe729Val) | |
19 | g.41970531A>G | CA406039760 | ATP1A3 | c.2314T>C (p.Phe772Leu) c.2275T>C (p.Phe759Leu) c.2308T>C (p.Phe770Leu) c.2185T>C (p.Phe729Leu) | |
19 | g.41970531A>T | CA406039762 | ATP1A3 | c.2314T>A (p.Phe772Ile) c.2275T>A (p.Phe759Ile) c.2308T>A (p.Phe770Ile) c.2185T>A (p.Phe729Ile) | |
19 | g.41970532G>A | CA507583261 | ATP1A3 | c.2313C>T (p.Ile771=) c.2274C>T (p.Ile758=) c.2307C>T (p.Ile769=) c.2184C>T (p.Ile728=) | |
19 | g.41970532G>C | CA406039765 | ATP1A3 | c.2313C>G (p.Ile771Met) c.2274C>G (p.Ile758Met) c.2307C>G (p.Ile769Met) c.2184C>G (p.Ile728Met) | |
19 | g.41970532G>T | CA507583259 | ATP1A3 | c.2313C>A (p.Ile771=) c.2274C>A (p.Ile758=) c.2307C>A (p.Ile769=) c.2184C>A (p.Ile728=) | |
19 | g.41970533A= | CA2336721076 | ATP1A3 | c.2312T= (p.Ile771=) c.2273T= (p.Ile758=) c.2306T= (p.Ile769=) c.2183T= (p.Ile728=) | |
19 | g.41970533A>C | CA341236 | ATP1A3 | c.2312T>G (p.Ile771Ser) c.2273T>G (p.Ile758Ser) c.2306T>G (p.Ile769Ser) c.2183T>G (p.Ile728Ser) | ClinVar dbSNP |
19 | g.41970533A>G | CA406039767 | ATP1A3 | c.2312T>C (p.Ile771Thr) c.2273T>C (p.Ile758Thr) c.2306T>C (p.Ile769Thr) c.2183T>C (p.Ile728Thr) | |
19 | g.41970533A>T | CA406039769 | ATP1A3 | c.2312T>A (p.Ile771Asn) c.2273T>A (p.Ile758Asn) c.2306T>A (p.Ile769Asn) c.2183T>A (p.Ile728Asn) | |
19 | g.41970534T>A | CA406039771 | ATP1A3 | c.2311A>T (p.Ile771Phe) c.2272A>T (p.Ile758Phe) c.2305A>T (p.Ile769Phe) c.2182A>T (p.Ile728Phe) | |
19 | g.41970534T>C | CA406039772 | ATP1A3 | c.2311A>G (p.Ile771Val) c.2272A>G (p.Ile758Val) c.2305A>G (p.Ile769Val) c.2182A>G (p.Ile728Val) | |
19 | g.41970534T>G | CA406039773 | ATP1A3 | c.2311A>C (p.Ile771Leu) c.2272A>C (p.Ile758Leu) c.2305A>C (p.Ile769Leu) c.2182A>C (p.Ile728Leu) | |
19 | g.41970535C>A | CA507583267 | ATP1A3 | c.2310G>T (p.Leu770=) c.2271G>T (p.Leu757=) c.2304G>T (p.Leu768=) c.2181G>T (p.Leu727=) | |
19 | g.41970535C>G | CA507583272 | ATP1A3 | c.2310G>C (p.Leu770=) c.2271G>C (p.Leu757=) c.2304G>C (p.Leu768=) c.2181G>C (p.Leu727=) | |
19 | g.41970535C>T | CA507583274 | ATP1A3 | c.2310G>A (p.Leu770=) c.2271G>A (p.Leu757=) c.2304G>A (p.Leu768=) c.2181G>A (p.Leu727=) | |
19 | g.41970540_41970555del | CA2576797080 | ATP1A3 | c.2303-8_2310del c.2264-8_2271del c.2297-8_2304del c.2174-8_2181del | |
19 | g.41970536A= | CA2336721078 | ATP1A3 | c.2309T= (p.Leu770=) c.2270T= (p.Leu757=) c.2303T= (p.Leu768=) c.2180T= (p.Leu727=) | |
19 | g.41970536A>C | CA406039775 | ATP1A3 | c.2309T>G (p.Leu770Arg) c.2270T>G (p.Leu757Arg) c.2303T>G (p.Leu768Arg) c.2180T>G (p.Leu727Arg) | |
19 | g.41970536A>G | CA346016 | ATP1A3 | c.2309T>C (p.Leu770Pro) c.2270T>C (p.Leu757Pro) c.2303T>C (p.Leu768Pro) c.2180T>C (p.Leu727Pro) | ClinVar dbSNP |
19 | g.41970536A>T | CA406039777 | ATP1A3 | c.2309T>A (p.Leu770Gln) c.2270T>A (p.Leu757Gln) c.2303T>A (p.Leu768Gln) c.2180T>A (p.Leu727Gln) | |
19 | g.41970537G>A | CA507583275 | ATP1A3 | c.2308C>T (p.Leu770=) c.2269C>T (p.Leu757=) c.2302C>T (p.Leu768=) c.2179C>T (p.Leu727=) | |
19 | g.41970537G>C | CA406039778 | ATP1A3 | c.2308C>G (p.Leu770Val) c.2269C>G (p.Leu757Val) c.2302C>G (p.Leu768Val) c.2179C>G (p.Leu727Val) | |
19 | g.41970537G>T | CA406039780 | ATP1A3 | c.2308C>A (p.Leu770Met) c.2269C>A (p.Leu757Met) c.2302C>A (p.Leu768Met) c.2179C>A (p.Leu727Met) | |
19 | g.41970538G>A | CA507583278 | ATP1A3 | c.2307C>T (p.Arg769=) c.2268C>T (p.Arg756=) c.2301C>T (p.Arg767=) c.2178C>T (p.Arg726=) | |
19 | g.41970538G>C | CA507583281 | ATP1A3 | c.2307C>G (p.Arg769=) c.2268C>G (p.Arg756=) c.2301C>G (p.Arg767=) c.2178C>G (p.Arg726=) | |
19 | g.41970538G>T | CA507583280 | ATP1A3 | c.2307C>A (p.Arg769=) c.2268C>A (p.Arg756=) c.2301C>A (p.Arg767=) c.2178C>A (p.Arg726=) | |
19 | g.41970539C>A | CA406039782 | ATP1A3 | c.2306G>T (p.Arg769Leu) c.2267G>T (p.Arg756Leu) c.2300G>T (p.Arg767Leu) c.2177G>T (p.Arg726Leu) | ClinVar dbSNP |
19 | g.41970539C= | CA2336721080 | ATP1A3 | c.2306G= (p.Arg769=) c.2267G= (p.Arg756=) c.2300G= (p.Arg767=) c.2177G= (p.Arg726=) | |
19 | g.41970539C>G | CA406039784 | ATP1A3 | c.2306G>C (p.Arg769Pro) c.2267G>C (p.Arg756Pro) c.2300G>C (p.Arg767Pro) c.2177G>C (p.Arg726Pro) | |
19 | g.41970539C>T | CA346014 | ATP1A3 | c.2306G>A (p.Arg769His) c.2267G>A (p.Arg756His) c.2300G>A (p.Arg767His) c.2177G>A (p.Arg726His) | ClinVar dbSNP gnomAD v4 |
19 | g.41970540G>A | CA16621741 | ATP1A3 | c.2305C>T (p.Arg769Cys) c.2266C>T (p.Arg756Cys) c.2299C>T (p.Arg767Cys) c.2176C>T (p.Arg726Cys) | ClinVar dbSNP |
19 | g.41970540G>C | CA406039788 | ATP1A3 | c.2305C>G (p.Arg769Gly) c.2266C>G (p.Arg756Gly) c.2299C>G (p.Arg767Gly) c.2176C>G (p.Arg726Gly) | |
19 | g.41970540G= | CA2336721082 | ATP1A3 | c.2305C= (p.Arg769=) c.2266C= (p.Arg756=) c.2299C= (p.Arg767=) c.2176C= (p.Arg726=) | |
19 | g.41970540G>T | CA406039787 | ATP1A3 | c.2305C>A (p.Arg769Ser) c.2266C>A (p.Arg756Ser) c.2299C>A (p.Arg767Ser) c.2176C>A (p.Arg726Ser) | ClinVar |
19 | g.41970541G>A | CA507583288 | ATP1A3 | c.2304C>T (p.Gly768=) c.2265C>T (p.Gly755=) c.2298C>T (p.Gly766=) c.2175C>T (p.Gly725=) | ClinVar gnomAD v4 |
19 | g.41970541G>C | CA507583289 | ATP1A3 | c.2304C>G (p.Gly768=) c.2265C>G (p.Gly755=) c.2298C>G (p.Gly766=) c.2175C>G (p.Gly725=) | |
19 | g.41970541G>T | CA507583290 | ATP1A3 | c.2304C>A (p.Gly768=) c.2265C>A (p.Gly755=) c.2298C>A (p.Gly766=) c.2175C>A (p.Gly725=) | |
19 | g.41970542C>A | CA406039789 | ATP1A3 | c.2303G>T (p.Gly768Val) c.2264G>T (p.Gly755Val) c.2297G>T (p.Gly766Val) c.2174G>T (p.Gly725Val) | |
19 | g.41970542C= | CA2336721086 | ATP1A3 | c.2303G= (p.Gly768=) c.2264G= (p.Gly755=) c.2297G= (p.Gly766=) c.2174G= (p.Gly725=) | |
19 | g.41970542C>G | CA346010 | ATP1A3 | c.2303G>C (p.Gly768Ala) c.2264G>C (p.Gly755Ala) c.2297G>C (p.Gly766Ala) c.2174G>C (p.Gly725Ala) | ClinVar dbSNP |
19 | g.41970542C>T | CA406039791 | ATP1A3 | c.2303G>A (p.Gly768Asp) c.2264G>A (p.Gly755Asp) c.2297G>A (p.Gly766Asp) c.2174G>A (p.Gly725Asp) | |
19 | g.41970543C>A | CA406039793 | ATP1A3 | c.2303-1G>T (n.2303-1G>T) c.2264-1G>T (n.2264-1G>T) c.2297-1G>T (n.2297-1G>T) c.2174-1G>T (n.2174-1G>T) | |
19 | g.41970543C>G | CA406039795 | ATP1A3 | c.2303-1G>C (n.2303-1G>C) c.2264-1G>C (n.2264-1G>C) c.2297-1G>C (n.2297-1G>C) c.2174-1G>C (n.2174-1G>C) | |
19 | g.41970543C>T | CA406039796 | ATP1A3 | c.2303-1G>A (n.2303-1G>A) c.2264-1G>A (n.2264-1G>A) c.2297-1G>A (n.2297-1G>A) c.2174-1G>A (n.2174-1G>A) | |
19 | g.41970544T>A | CA406039798 | ATP1A3 | c.2303-2A>T (n.2303-2A>T) c.2264-2A>T (n.2264-2A>T) c.2297-2A>T (n.2297-2A>T) c.2174-2A>T (n.2174-2A>T) | |
19 | g.41970544T>C | CA308586686 | ATP1A3 | c.2303-2A>G (n.2303-2A>G) c.2264-2A>G (n.2264-2A>G) c.2297-2A>G (n.2297-2A>G) c.2174-2A>G (n.2174-2A>G) | dbSNP |
19 | g.41970544T>G | CA406039800 | ATP1A3 | c.2303-2A>C (n.2303-2A>C) c.2264-2A>C (n.2264-2A>C) c.2297-2A>C (n.2297-2A>C) c.2174-2A>C (n.2174-2A>C) | |
19 | g.41970544T= | CA2336721088 | ATP1A3 | c.2303-2A= (n.2303-2A=) c.2264-2A= (n.2264-2A=) c.2297-2A= (n.2297-2A=) c.2174-2A= (n.2174-2A=) | |
19 | g.41970545G>A | CA633184442 | ATP1A3 | c.2303-3C>T (n.2303-3C>T) c.2264-3C>T (n.2264-3C>T) c.2297-3C>T (n.2297-3C>T) c.2174-3C>T (n.2174-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970545G= | CA2336721090 | ATP1A3 | c.2303-3C= (n.2303-3C=) c.2264-3C= (n.2264-3C=) c.2297-3C= (n.2297-3C=) c.2174-3C= (n.2174-3C=) | |
19 | g.41970546T>C | CA2814441628 | ATP1A3 | c.2303-4A>G (n.2303-4A>G) c.2264-4A>G (n.2264-4A>G) c.2297-4A>G (n.2297-4A>G) c.2174-4A>G (n.2174-4A>G) | |
19 | g.41970548G>A | CA2585368947 | ATP1A3 | c.2303-6C>T (n.2303-6C>T) c.2264-6C>T (n.2264-6C>T) c.2297-6C>T (n.2297-6C>T) c.2174-6C>T (n.2174-6C>T) | gnomAD v4 |
19 | g.41970548G>C | CA2576797081 | ATP1A3 | c.2303-6C>G (n.2303-6C>G) c.2264-6C>G (n.2264-6C>G) c.2297-6C>G (n.2297-6C>G) c.2174-6C>G (n.2174-6C>G) | |
19 | g.41970549C>T | CA2585368948 | ATP1A3 | c.2303-7G>A (n.2303-7G>A) c.2264-7G>A (n.2264-7G>A) c.2297-7G>A (n.2297-7G>A) c.2174-7G>A (n.2174-7G>A) | gnomAD v4 |
19 | g.41970550A= | CA2336721091 | ATP1A3 | c.2303-8T= (n.2303-8T=) c.2264-8T= (n.2264-8T=) c.2297-8T= (n.2297-8T=) c.2174-8T= (n.2174-8T=) | |
19 | g.41970550A>G | CA9467418 | ATP1A3 | c.2303-8T>C (n.2303-8T>C) c.2264-8T>C (n.2264-8T>C) c.2297-8T>C (n.2297-8T>C) c.2174-8T>C (n.2174-8T>C) | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.41970551C= | CA2336721092 | ATP1A3 | c.2303-9G= (n.2303-9G=) c.2264-9G= (n.2264-9G=) c.2297-9G= (n.2297-9G=) c.2174-9G= (n.2174-9G=) | |
19 | g.41970551C>T | CA2336721093 | ATP1A3 | c.2303-9G>A (n.2303-9G>A) c.2264-9G>A (n.2264-9G>A) c.2297-9G>A (n.2297-9G>A) c.2174-9G>A (n.2174-9G>A) | dbSNP gnomAD v4 |
19 | g.41970552A>G | CA2576797082 | ATP1A3 | c.2303-10T>C (n.2303-10T>C) c.2264-10T>C (n.2264-10T>C) c.2297-10T>C (n.2297-10T>C) c.2174-10T>C (n.2174-10T>C) | |
19 | g.41970554G>A | CA2814441629 | ATP1A3 | c.2303-12C>T (n.2303-12C>T) c.2264-12C>T (n.2264-12C>T) c.2297-12C>T (n.2297-12C>T) c.2174-12C>T (n.2174-12C>T) | |
19 | g.41970555C>T | CA2585368949 | ATP1A3 | c.2303-13G>A (n.2303-13G>A) c.2264-13G>A (n.2264-13G>A) c.2297-13G>A (n.2297-13G>A) c.2174-13G>A (n.2174-13G>A) | gnomAD v4 |
19 | g.41970556A>C | CA2576797083 | ATP1A3 | c.2303-14T>G (n.2303-14T>G) c.2264-14T>G (n.2264-14T>G) c.2297-14T>G (n.2297-14T>G) c.2174-14T>G (n.2174-14T>G) | |
19 | g.41970558G>A | CA9467419 | ATP1A3 | c.2303-16C>T (n.2303-16C>T) c.2264-16C>T (n.2264-16C>T) c.2297-16C>T (n.2297-16C>T) c.2174-16C>T (n.2174-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970558G>C | CA9467421 | ATP1A3 | c.2303-16C>G (n.2303-16C>G) c.2264-16C>G (n.2264-16C>G) c.2297-16C>G (n.2297-16C>G) c.2174-16C>G (n.2174-16C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970558G= | CA2336721094 | ATP1A3 | c.2303-16C= (n.2303-16C=) c.2264-16C= (n.2264-16C=) c.2297-16C= (n.2297-16C=) c.2174-16C= (n.2174-16C=) | |
19 | g.41970558G>T | CA9467420 | ATP1A3 | c.2303-16C>A (n.2303-16C>A) c.2264-16C>A (n.2264-16C>A) c.2297-16C>A (n.2297-16C>A) c.2174-16C>A (n.2174-16C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970559del | CA2585368950 | ATP1A3 | c.2303-17del (n.2303-17del) c.2264-17del (n.2264-17del) c.2297-17del (n.2297-17del) c.2174-17del (n.2174-17del) | gnomAD v4 |
19 | g.41970559C= | CA2336721095 | ATP1A3 | c.2303-17G= (n.2303-17G=) c.2264-17G= (n.2264-17G=) c.2297-17G= (n.2297-17G=) c.2174-17G= (n.2174-17G=) | |
19 | g.41970559C>G | CA2336721096 | ATP1A3 | c.2303-17G>C (n.2303-17G>C) c.2264-17G>C (n.2264-17G>C) c.2297-17G>C (n.2297-17G>C) c.2174-17G>C (n.2174-17G>C) | dbSNP |
19 | g.41970559C>T | CA2585368951 | ATP1A3 | c.2303-17G>A (n.2303-17G>A) c.2264-17G>A (n.2264-17G>A) c.2297-17G>A (n.2297-17G>A) c.2174-17G>A (n.2174-17G>A) | gnomAD v4 |
19 | g.41970560T>C | CA2336721098 | ATP1A3 | c.2303-18A>G (n.2303-18A>G) c.2264-18A>G (n.2264-18A>G) c.2297-18A>G (n.2297-18A>G) c.2174-18A>G (n.2174-18A>G) | dbSNP |
19 | g.41970560T= | CA2336721097 | ATP1A3 | c.2303-18A= (n.2303-18A=) c.2264-18A= (n.2264-18A=) c.2297-18A= (n.2297-18A=) c.2174-18A= (n.2174-18A=) | |
19 | g.41970561C= | CA2336721099 | ATP1A3 | c.2303-19G= (n.2303-19G=) c.2264-19G= (n.2264-19G=) c.2297-19G= (n.2297-19G=) c.2174-19G= (n.2174-19G=) | |
19 | g.41970561C>G | CA2336721100 | ATP1A3 | c.2303-19G>C (n.2303-19G>C) c.2264-19G>C (n.2264-19G>C) c.2297-19G>C (n.2297-19G>C) c.2174-19G>C (n.2174-19G>C) | dbSNP |
19 | g.41970561C>T | CA633184443 | ATP1A3 | c.2303-19G>A (n.2303-19G>A) c.2264-19G>A (n.2264-19G>A) c.2297-19G>A (n.2297-19G>A) c.2174-19G>A (n.2174-19G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970562A= | CA2336721101 | ATP1A3 | c.2303-20T= (n.2303-20T=) c.2264-20T= (n.2264-20T=) c.2297-20T= (n.2297-20T=) c.2174-20T= (n.2174-20T=) | |
19 | g.41970562A>G | CA2336721102 | ATP1A3 | c.2303-20T>C (n.2303-20T>C) c.2264-20T>C (n.2264-20T>C) c.2297-20T>C (n.2297-20T>C) c.2174-20T>C (n.2174-20T>C) | dbSNP |
19 | g.41970562A>T | CA9467422 | ATP1A3 | c.2303-20T>A (n.2303-20T>A) c.2264-20T>A (n.2264-20T>A) c.2297-20T>A (n.2297-20T>A) c.2174-20T>A (n.2174-20T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970563G>A | CA2585368952 | ATP1A3 | c.2303-21C>T (n.2303-21C>T) c.2264-21C>T (n.2264-21C>T) c.2297-21C>T (n.2297-21C>T) c.2174-21C>T (n.2174-21C>T) | gnomAD v4 |
19 | g.41970563G>C | CA882382583 | ATP1A3 | c.2303-21C>G (n.2303-21C>G) c.2264-21C>G (n.2264-21C>G) c.2297-21C>G (n.2297-21C>G) c.2174-21C>G (n.2174-21C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970563G= | CA2336721103 | ATP1A3 | c.2303-21C= (n.2303-21C=) c.2264-21C= (n.2264-21C=) c.2297-21C= (n.2297-21C=) c.2174-21C= (n.2174-21C=) | |
19 | g.41970565G>A | CA2585368953 | ATP1A3 | c.2303-23C>T (n.2303-23C>T) c.2264-23C>T (n.2264-23C>T) c.2297-23C>T (n.2297-23C>T) c.2174-23C>T (n.2174-23C>T) | gnomAD v4 |
19 | g.41970567A= | CA2336721104 | ATP1A3 | c.2303-25T= (n.2303-25T=) c.2264-25T= (n.2264-25T=) c.2297-25T= (n.2297-25T=) c.2174-25T= (n.2174-25T=) | |
19 | g.41970567A>C | CA9467423 | ATP1A3 | c.2303-25T>G (n.2303-25T>G) c.2264-25T>G (n.2264-25T>G) c.2297-25T>G (n.2297-25T>G) c.2174-25T>G (n.2174-25T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970568G>A | CA507583299 | ATP1A3 | c.2303-26C>T (n.2303-26C>T) c.2264-26C>T (n.2264-26C>T) c.2297-26C>T (n.2297-26C>T) c.2174-26C>T (n.2174-26C>T) | gnomAD v4 |
19 | g.41970568G>C | CA2585368955 | ATP1A3 | c.2303-26C>G (n.2303-26C>G) c.2264-26C>G (n.2264-26C>G) c.2297-26C>G (n.2297-26C>G) c.2174-26C>G (n.2174-26C>G) | gnomAD v4 |
19 | g.41970569_41970583del | CA2585368954 | ATP1A3 | c.2303-40_2303-26del (n.2303-40_2303-26del) c.2264-40_2264-26del (n.2264-40_2264-26del) c.2297-40_2297-26del (n.2297-40_2297-26del) c.2174-40_2174-26del (n.2174-40_2174-26del) | gnomAD v4 |
19 | g.41970570C>A | CA9467424 | ATP1A3 | c.2303-28G>T (n.2303-28G>T) c.2264-28G>T (n.2264-28G>T) c.2297-28G>T (n.2297-28G>T) c.2174-28G>T (n.2174-28G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970570C= | CA2336721105 | ATP1A3 | c.2303-28G= (n.2303-28G=) c.2264-28G= (n.2264-28G=) c.2297-28G= (n.2297-28G=) c.2174-28G= (n.2174-28G=) | |
19 | g.41970570C>T | CA9467425 | ATP1A3 | c.2303-28G>A (n.2303-28G>A) c.2264-28G>A (n.2264-28G>A) c.2297-28G>A (n.2297-28G>A) c.2174-28G>A (n.2174-28G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970571G>A | CA9467426 | ATP1A3 | c.2303-29C>T (n.2303-29C>T) c.2264-29C>T (n.2264-29C>T) c.2297-29C>T (n.2297-29C>T) c.2174-29C>T (n.2174-29C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970571G= | CA2336721106 | ATP1A3 | c.2303-29C= (n.2303-29C=) c.2264-29C= (n.2264-29C=) c.2297-29C= (n.2297-29C=) c.2174-29C= (n.2174-29C=) | |
19 | g.41970572C>A | CA633184444 | ATP1A3 | c.2303-30G>T (n.2303-30G>T) c.2264-30G>T (n.2264-30G>T) c.2297-30G>T (n.2297-30G>T) c.2174-30G>T (n.2174-30G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970572C= | CA2336721107 | ATP1A3 | c.2303-30G= (n.2303-30G=) c.2264-30G= (n.2264-30G=) c.2297-30G= (n.2297-30G=) c.2174-30G= (n.2174-30G=) | |
19 | g.41970574del | CA2576797084 | ATP1A3 | c.2303-30del (n.2303-30del) c.2264-30del (n.2264-30del) c.2297-30del (n.2297-30del) c.2174-30del (n.2174-30del) | |
19 | g.41970574C>A | CA2576797085 | ATP1A3 | c.2303-32G>T (n.2303-32G>T) c.2264-32G>T (n.2264-32G>T) c.2297-32G>T (n.2297-32G>T) c.2174-32G>T (n.2174-32G>T) | |
19 | g.41970575A= | CA2336721108 | ATP1A3 | c.2303-33T= (n.2303-33T=) c.2264-33T= (n.2264-33T=) c.2297-33T= (n.2297-33T=) c.2174-33T= (n.2174-33T=) | |
19 | g.41970575A>G | CA633184445 | ATP1A3 | c.2303-33T>C (n.2303-33T>C) c.2264-33T>C (n.2264-33T>C) c.2297-33T>C (n.2297-33T>C) c.2174-33T>C (n.2174-33T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970576T>C | CA2585368956 | ATP1A3 | c.2303-34A>G (n.2303-34A>G) c.2264-34A>G (n.2264-34A>G) c.2297-34A>G (n.2297-34A>G) c.2174-34A>G (n.2174-34A>G) | gnomAD v4 |
19 | g.41970577G>A | CA2336721110 | ATP1A3 | c.2303-35C>T (n.2303-35C>T) c.2264-35C>T (n.2264-35C>T) c.2297-35C>T (n.2297-35C>T) c.2174-35C>T (n.2174-35C>T) | dbSNP |
19 | g.41970577G= | CA2336721109 | ATP1A3 | c.2303-35C= (n.2303-35C=) c.2264-35C= (n.2264-35C=) c.2297-35C= (n.2297-35C=) c.2174-35C= (n.2174-35C=) | |
19 | g.41970578C>A | CA633184446 | ATP1A3 | c.2303-36G>T (n.2303-36G>T) c.2264-36G>T (n.2264-36G>T) c.2297-36G>T (n.2297-36G>T) c.2174-36G>T (n.2174-36G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970578C= | CA2336721111 | ATP1A3 | c.2303-36G= (n.2303-36G=) c.2264-36G= (n.2264-36G=) c.2297-36G= (n.2297-36G=) c.2174-36G= (n.2174-36G=) | |
19 | g.41970581G>A | CA2814441634 | ATP1A3 | c.2303-39C>T (n.2303-39C>T) c.2264-39C>T (n.2264-39C>T) c.2297-39C>T (n.2297-39C>T) c.2174-39C>T (n.2174-39C>T) | |
19 | g.41970582G>A | CA2585368957 | ATP1A3 | c.2303-40C>T (n.2303-40C>T) c.2264-40C>T (n.2264-40C>T) c.2297-40C>T (n.2297-40C>T) c.2174-40C>T (n.2174-40C>T) | gnomAD v4 |
19 | g.41970583G>A | CA2336721113 | ATP1A3 | c.2303-41C>T (n.2303-41C>T) c.2264-41C>T (n.2264-41C>T) c.2297-41C>T (n.2297-41C>T) c.2174-41C>T (n.2174-41C>T) | dbSNP |
19 | g.41970583G>C | CA2585368958 | ATP1A3 | c.2303-41C>G (n.2303-41C>G) c.2264-41C>G (n.2264-41C>G) c.2297-41C>G (n.2297-41C>G) c.2174-41C>G (n.2174-41C>G) | gnomAD v4 |
19 | g.41970583G= | CA2336721112 | ATP1A3 | c.2303-41C= (n.2303-41C=) c.2264-41C= (n.2264-41C=) c.2297-41C= (n.2297-41C=) c.2174-41C= (n.2174-41C=) | |
19 | g.41970584A>G | CA2585368959 | ATP1A3 | c.2303-42T>C (n.2303-42T>C) c.2264-42T>C (n.2264-42T>C) c.2297-42T>C (n.2297-42T>C) c.2174-42T>C (n.2174-42T>C) | gnomAD v4 |
19 | g.41970584dup | CA9467427 | ATP1A3 | c.2303-42dup (n.2303-42dup) c.2264-42dup (n.2264-42dup) c.2297-42dup (n.2297-42dup) c.2174-42dup (n.2174-42dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970585G>C | CA2585368960 | ATP1A3 | c.2303-43C>G (n.2303-43C>G) c.2264-43C>G (n.2264-43C>G) c.2297-43C>G (n.2297-43C>G) c.2174-43C>G (n.2174-43C>G) | gnomAD v4 |
19 | g.41970585G= | CA2336721114 | ATP1A3 | c.2303-43C= (n.2303-43C=) c.2264-43C= (n.2264-43C=) c.2297-43C= (n.2297-43C=) c.2174-43C= (n.2174-43C=) | |
19 | g.41970585G>T | CA9467428 | ATP1A3 | c.2303-43C>A (n.2303-43C>A) c.2264-43C>A (n.2264-43C>A) c.2297-43C>A (n.2297-43C>A) c.2174-43C>A (n.2174-43C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970586C>A | CA9467429 | ATP1A3 | c.2303-44G>T (n.2303-44G>T) c.2264-44G>T (n.2264-44G>T) c.2297-44G>T (n.2297-44G>T) c.2174-44G>T (n.2174-44G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970586C= | CA2336721115 | ATP1A3 | c.2303-44G= (n.2303-44G=) c.2264-44G= (n.2264-44G=) c.2297-44G= (n.2297-44G=) c.2174-44G= (n.2174-44G=) | |
19 | g.41970586C>G | CA882382595 | ATP1A3 | c.2303-44G>C (n.2303-44G>C) c.2264-44G>C (n.2264-44G>C) c.2297-44G>C (n.2297-44G>C) c.2174-44G>C (n.2174-44G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970586C>T | CA2576797087 | ATP1A3 | c.2303-44G>A (n.2303-44G>A) c.2264-44G>A (n.2264-44G>A) c.2297-44G>A (n.2297-44G>A) c.2174-44G>A (n.2174-44G>A) | gnomAD v4 |
19 | g.41970588_41970589del | CA2576797086 | ATP1A3 | c.2303-45_2303-44del (n.2303-45_2303-44del) c.2264-45_2264-44del (n.2264-45_2264-44del) c.2297-45_2297-44del (n.2297-45_2297-44del) c.2174-45_2174-44del (n.2174-45_2174-44del) | |
19 | g.41970587_41970591del | CA2585368961 | ATP1A3 | c.2303-48_2303-44del (n.2303-48_2303-44del) c.2264-48_2264-44del (n.2264-48_2264-44del) c.2297-48_2297-44del (n.2297-48_2297-44del) c.2174-48_2174-44del (n.2174-48_2174-44del) | gnomAD v4 |
19 | g.41970587C>A | CA2576797088 | ATP1A3 | c.2303-45G>T (n.2303-45G>T) c.2264-45G>T (n.2264-45G>T) c.2297-45G>T (n.2297-45G>T) c.2174-45G>T (n.2174-45G>T) | |
19 | g.41970589C>A | CA2576797089 | ATP1A3 | c.2303-47G>T (n.2303-47G>T) c.2264-47G>T (n.2264-47G>T) c.2297-47G>T (n.2297-47G>T) c.2174-47G>T (n.2174-47G>T) | |
19 | g.41970590A= | CA2336721117 | ATP1A3 | c.2303-48T= (n.2303-48T=) c.2264-48T= (n.2264-48T=) c.2297-48T= (n.2297-48T=) c.2174-48T= (n.2174-48T=) | |
19 | g.41970590A>C | CA996017871 | ATP1A3 | c.2303-48T>G (n.2303-48T>G) c.2264-48T>G (n.2264-48T>G) c.2297-48T>G (n.2297-48T>G) c.2174-48T>G (n.2174-48T>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970590A>G | CA882382599 | ATP1A3 | c.2303-48T>C (n.2303-48T>C) c.2264-48T>C (n.2264-48T>C) c.2297-48T>C (n.2297-48T>C) c.2174-48T>C (n.2174-48T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970591C>G | CA2576797090 | ATP1A3 | c.2303-49G>C (n.2303-49G>C) c.2264-49G>C (n.2264-49G>C) c.2297-49G>C (n.2297-49G>C) c.2174-49G>C (n.2174-49G>C) | |
19 | g.41970591C>T | CA2585368962 | ATP1A3 | c.2303-49G>A (n.2303-49G>A) c.2264-49G>A (n.2264-49G>A) c.2297-49G>A (n.2297-49G>A) c.2174-49G>A (n.2174-49G>A) | gnomAD v4 |
19 | g.41970592T>C | CA2585368964 | ATP1A3 | c.2303-50A>G (n.2303-50A>G) c.2264-50A>G (n.2264-50A>G) c.2297-50A>G (n.2297-50A>G) c.2174-50A>G (n.2174-50A>G) | dbSNP gnomAD v4 |
19 | g.41970592T>G | CA2585368963 | ATP1A3 | c.2303-50A>C (n.2303-50A>C) c.2264-50A>C (n.2264-50A>C) c.2297-50A>C (n.2297-50A>C) c.2174-50A>C (n.2174-50A>C) | gnomAD v4 |
19 | g.41970593C= | CA2336721118 | ATP1A3 | c.2303-51G= (n.2303-51G=) c.2264-51G= (n.2264-51G=) c.2297-51G= (n.2297-51G=) c.2174-51G= (n.2174-51G=) | |
19 | g.41970593C>T | CA2585368966 | ATP1A3 | c.2303-51G>A (n.2303-51G>A) c.2264-51G>A (n.2264-51G>A) c.2297-51G>A (n.2297-51G>A) c.2174-51G>A (n.2174-51G>A) | gnomAD v4 |
19 | g.41970595del | CA2585368965 | ATP1A3 | c.2303-51del (n.2303-51del) c.2264-51del (n.2264-51del) c.2297-51del (n.2297-51del) c.2174-51del (n.2174-51del) | gnomAD v4 |
19 | g.41970594C= | CA2336721120 | ATP1A3 | c.2303-52G= (n.2303-52G=) c.2264-52G= (n.2264-52G=) c.2297-52G= (n.2297-52G=) c.2174-52G= (n.2174-52G=) | |
19 | g.41970594C>G | CA9467432 | ATP1A3 | c.2303-52G>C (n.2303-52G>C) c.2264-52G>C (n.2264-52G>C) c.2297-52G>C (n.2297-52G>C) c.2174-52G>C (n.2174-52G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970594C>T | CA9467431 | ATP1A3 | c.2303-52G>A (n.2303-52G>A) c.2264-52G>A (n.2264-52G>A) c.2297-52G>A (n.2297-52G>A) c.2174-52G>A (n.2174-52G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970603_41970613dup | CA9467430 | ATP1A3 | c.2303-62_2303-52dup (n.2303-62_2303-52dup) c.2264-62_2264-52dup (n.2264-62_2264-52dup) c.2297-62_2297-52dup (n.2297-62_2297-52dup) c.2174-62_2174-52dup (n.2174-62_2174-52dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970603_41970613del | CA2576797091 | ATP1A3 | c.2303-62_2303-52del (n.2303-62_2303-52del) c.2264-62_2264-52del (n.2264-62_2264-52del) c.2297-62_2297-52del (n.2297-62_2297-52del) c.2174-62_2174-52del (n.2174-62_2174-52del) | gnomAD v4 |
19 | g.41970596T>A | CA2585368967 | ATP1A3 | c.2303-54A>T (n.2303-54A>T) c.2264-54A>T (n.2264-54A>T) c.2297-54A>T (n.2297-54A>T) c.2174-54A>T (n.2174-54A>T) | gnomAD v4 |
19 | g.41970596T>C | CA2585368968 | ATP1A3 | c.2303-54A>G (n.2303-54A>G) c.2264-54A>G (n.2264-54A>G) c.2297-54A>G (n.2297-54A>G) c.2174-54A>G (n.2174-54A>G) | gnomAD v4 |
19 | g.41970596T= | CA2336721122 | ATP1A3 | c.2303-54A= (n.2303-54A=) c.2264-54A= (n.2264-54A=) c.2297-54A= (n.2297-54A=) c.2174-54A= (n.2174-54A=) | |
19 | g.41970597C>A | CA2585368969 | ATP1A3 | c.2303-55G>T (n.2303-55G>T) c.2264-55G>T (n.2264-55G>T) c.2297-55G>T (n.2297-55G>T) c.2174-55G>T (n.2174-55G>T) | gnomAD v4 |
19 | g.41970599_41970604dup | CA996017877 | ATP1A3 | c.2303-60_2303-55dup (n.2303-60_2303-55dup) c.2264-60_2264-55dup (n.2264-60_2264-55dup) c.2297-60_2297-55dup (n.2297-60_2297-55dup) c.2174-60_2174-55dup (n.2174-60_2174-55dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970598T>G | CA2585368970 | ATP1A3 | c.2303-56A>C (n.2303-56A>C) c.2264-56A>C (n.2264-56A>C) c.2297-56A>C (n.2297-56A>C) c.2174-56A>C (n.2174-56A>C) | gnomAD v4 |
19 | g.41970599G>A | CA2585368971 | ATP1A3 | c.2303-57C>T (n.2303-57C>T) c.2264-57C>T (n.2264-57C>T) c.2297-57C>T (n.2297-57C>T) c.2174-57C>T (n.2174-57C>T) | gnomAD v4 |
19 | g.41970599G= | CA2336721123 | ATP1A3 | c.2303-57C= (n.2303-57C=) c.2264-57C= (n.2264-57C=) c.2297-57C= (n.2297-57C=) c.2174-57C= (n.2174-57C=) | |
19 | g.41970599G>T | CA2585368972 | ATP1A3 | c.2303-57C>A (n.2303-57C>A) c.2264-57C>A (n.2264-57C>A) c.2297-57C>A (n.2297-57C>A) c.2174-57C>A (n.2174-57C>A) | gnomAD v4 |
19 | g.41970600C>A | CA996017880 | ATP1A3 | c.2303-58G>T (n.2303-58G>T) c.2264-58G>T (n.2264-58G>T) c.2297-58G>T (n.2297-58G>T) c.2174-58G>T (n.2174-58G>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970600C= | CA2336721125 | ATP1A3 | c.2303-58G= (n.2303-58G=) c.2264-58G= (n.2264-58G=) c.2297-58G= (n.2297-58G=) c.2174-58G= (n.2174-58G=) | |
19 | g.41970600C>T | CA2336721124 | ATP1A3 | c.2303-58G>A (n.2303-58G>A) c.2264-58G>A (n.2264-58G>A) c.2297-58G>A (n.2297-58G>A) c.2174-58G>A (n.2174-58G>A) | dbSNP gnomAD v4 |
19 | g.41970601_41970603dup | CA2336721126 | ATP1A3 | c.2303-60_2303-58dup (n.2303-60_2303-58dup) c.2264-60_2264-58dup (n.2264-60_2264-58dup) c.2297-60_2297-58dup (n.2297-60_2297-58dup) c.2174-60_2174-58dup (n.2174-60_2174-58dup) | dbSNP gnomAD v4 |
19 | g.41970601C>A | CA2585368973 | ATP1A3 | c.2303-59G>T (n.2303-59G>T) c.2264-59G>T (n.2264-59G>T) c.2297-59G>T (n.2297-59G>T) c.2174-59G>T (n.2174-59G>T) | gnomAD v4 |
19 | g.41970601C= | CA2336721127 | ATP1A3 | c.2303-59G= (n.2303-59G=) c.2264-59G= (n.2264-59G=) c.2297-59G= (n.2297-59G=) c.2174-59G= (n.2174-59G=) | |
19 | g.41970601C>G | CA996017882 | ATP1A3 | c.2303-59G>C (n.2303-59G>C) c.2264-59G>C (n.2264-59G>C) c.2297-59G>C (n.2297-59G>C) c.2174-59G>C (n.2174-59G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970601C>T | CA2585368974 | ATP1A3 | c.2303-59G>A (n.2303-59G>A) c.2264-59G>A (n.2264-59G>A) c.2297-59G>A (n.2297-59G>A) c.2174-59G>A (n.2174-59G>A) | gnomAD v4 |