Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41970475G>A | CA9467413 | ATP1A3 | c.2370C>T (p.Ile790=) c.2331C>T (p.Ile777=) c.2364C>T (p.Ile788=) c.2241C>T (p.Ile747=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970475G>C | CA406039555 | ATP1A3 | c.2370C>G (p.Ile790Met) c.2331C>G (p.Ile777Met) c.2364C>G (p.Ile788Met) c.2241C>G (p.Ile747Met) | |
19 | g.41970475G= | CA2336720990 | ATP1A3 | c.2370C= (p.Ile790=) c.2331C= (p.Ile777=) c.2364C= (p.Ile788=) c.2241C= (p.Ile747=) | |
19 | g.41970475G>T | CA507694844 | ATP1A3 | c.2370C>A (p.Ile790=) c.2331C>A (p.Ile777=) c.2364C>A (p.Ile788=) c.2241C>A (p.Ile747=) | |
19 | g.41970476A= | CA2336720992 | ATP1A3 | c.2369T= (p.Ile790=) c.2330T= (p.Ile777=) c.2363T= (p.Ile788=) c.2240T= (p.Ile747=) | |
19 | g.41970476A>C | CA406039556 | ATP1A3 | c.2369T>G (p.Ile790Ser) c.2330T>G (p.Ile777Ser) c.2363T>G (p.Ile788Ser) c.2240T>G (p.Ile747Ser) | |
19 | g.41970476A>G | CA406039558 | ATP1A3 | c.2369T>C (p.Ile790Thr) c.2330T>C (p.Ile777Thr) c.2363T>C (p.Ile788Thr) c.2240T>C (p.Ile747Thr) | |
19 | g.41970476A>T | CA406039560 | ATP1A3 | c.2369T>A (p.Ile790Asn) c.2330T>A (p.Ile777Asn) c.2363T>A (p.Ile788Asn) c.2240T>A (p.Ile747Asn) | ClinVar dbSNP |
19 | g.41970477T>A | CA406039562 | ATP1A3 | c.2368A>T (p.Ile790Phe) c.2329A>T (p.Ile777Phe) c.2362A>T (p.Ile788Phe) c.2239A>T (p.Ile747Phe) | |
19 | g.41970477T>C | CA406039563 | ATP1A3 | c.2368A>G (p.Ile790Val) c.2329A>G (p.Ile777Val) c.2362A>G (p.Ile788Val) c.2239A>G (p.Ile747Val) | |
19 | g.41970477T>G | CA406039565 | ATP1A3 | c.2368A>C (p.Ile790Leu) c.2329A>C (p.Ile777Leu) c.2362A>C (p.Ile788Leu) c.2239A>C (p.Ile747Leu) | |
19 | g.41970478C>A | CA406039567 | ATP1A3 | c.2367G>T (p.Glu789Asp) c.2328G>T (p.Glu776Asp) c.2361G>T (p.Glu787Asp) c.2238G>T (p.Glu746Asp) | |
19 | g.41970478C= | CA2336720999 | ATP1A3 | c.2367G= (p.Glu789=) c.2328G= (p.Glu776=) c.2361G= (p.Glu787=) c.2238G= (p.Glu746=) | |
19 | g.41970478C>G | CA406039568 | ATP1A3 | c.2367G>C (p.Glu789Asp) c.2328G>C (p.Glu776Asp) c.2361G>C (p.Glu787Asp) c.2238G>C (p.Glu746Asp) | ClinVar dbSNP |
19 | g.41970478C>T | CA507694845 | ATP1A3 | c.2367G>A (p.Glu789=) c.2328G>A (p.Glu776=) c.2361G>A (p.Glu787=) c.2238G>A (p.Glu746=) | |
19 | g.41970478dup | CA2840693857 | ATP1A3 | c.2367dup (p.Ile790AspfsTer29) c.2328dup (p.Ile777AspfsTer29) c.2361dup (p.Ile788AspfsTer29) c.2238dup (p.Ile747AspfsTer29) | |
19 | g.41970479T>A | CA406039570 | ATP1A3 | c.2366A>T (p.Glu789Val) c.2327A>T (p.Glu776Val) c.2360A>T (p.Glu787Val) c.2237A>T (p.Glu746Val) | |
19 | g.41970479T>C | CA406039571 | ATP1A3 | c.2366A>G (p.Glu789Gly) c.2327A>G (p.Glu776Gly) c.2360A>G (p.Glu787Gly) c.2237A>G (p.Glu746Gly) | |
19 | g.41970479T>G | CA406039573 | ATP1A3 | c.2366A>C (p.Glu789Ala) c.2327A>C (p.Glu776Ala) c.2360A>C (p.Glu787Ala) c.2237A>C (p.Glu746Ala) | |
19 | g.41970480C>A | CA406039578 | ATP1A3 | c.2365G>T (p.Glu789Ter) c.2326G>T (p.Glu776Ter) c.2359G>T (p.Glu787Ter) c.2236G>T (p.Glu746Ter) | |
19 | g.41970480C>G | CA406039575 | ATP1A3 | c.2365G>C (p.Glu789Gln) c.2326G>C (p.Glu776Gln) c.2359G>C (p.Glu787Gln) c.2236G>C (p.Glu746Gln) | |
19 | g.41970480C>T | CA406039577 | ATP1A3 | c.2365G>A (p.Glu789Lys) c.2326G>A (p.Glu776Lys) c.2359G>A (p.Glu787Lys) c.2236G>A (p.Glu746Lys) | ClinVar dbSNP |
19 | g.41970481C>A | CA507583158 | ATP1A3 | c.2364G>T (p.Pro788=) c.2325G>T (p.Pro775=) c.2358G>T (p.Pro786=) c.2235G>T (p.Pro745=) | |
19 | g.41970481C= | CA2336721003 | ATP1A3 | c.2364G= (p.Pro788=) c.2325G= (p.Pro775=) c.2358G= (p.Pro786=) c.2235G= (p.Pro745=) | |
19 | g.41970481C>G | CA507583159 | ATP1A3 | c.2364G>C (p.Pro788=) c.2325G>C (p.Pro775=) c.2358G>C (p.Pro786=) c.2235G>C (p.Pro745=) | ClinVar dbSNP |
19 | g.41970481C>T | CA9467414 | ATP1A3 | c.2364G>A (p.Pro788=) c.2325G>A (p.Pro775=) c.2358G>A (p.Pro786=) c.2235G>A (p.Pro745=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41970482G>A | CA10603656 | ATP1A3 | c.2363C>T (p.Pro788Leu) c.2324C>T (p.Pro775Leu) c.2357C>T (p.Pro786Leu) c.2234C>T (p.Pro745Leu) | ClinVar dbSNP |
19 | g.41970482G>C | CA406039582 | ATP1A3 | c.2363C>G (p.Pro788Arg) c.2324C>G (p.Pro775Arg) c.2357C>G (p.Pro786Arg) c.2234C>G (p.Pro745Arg) | |
19 | g.41970482G= | CA2336721008 | ATP1A3 | c.2363C= (p.Pro788=) c.2324C= (p.Pro775=) c.2357C= (p.Pro786=) c.2234C= (p.Pro745=) | |
19 | g.41970482G>T | CA406039583 | ATP1A3 | c.2363C>A (p.Pro788Gln) c.2324C>A (p.Pro775Gln) c.2357C>A (p.Pro786Gln) c.2234C>A (p.Pro745Gln) | |
19 | g.41970483G>A | CA406039585 | ATP1A3 | c.2362C>T (p.Pro788Ser) c.2323C>T (p.Pro775Ser) c.2356C>T (p.Pro786Ser) c.2233C>T (p.Pro745Ser) | |
19 | g.41970483G>C | CA406039587 | ATP1A3 | c.2362C>G (p.Pro788Ala) c.2323C>G (p.Pro775Ala) c.2356C>G (p.Pro786Ala) c.2233C>G (p.Pro745Ala) | |
19 | g.41970483G= | CA2336721014 | ATP1A3 | c.2362C= (p.Pro788=) c.2323C= (p.Pro775=) c.2356C= (p.Pro786=) c.2233C= (p.Pro745=) | |
19 | g.41970483G>T | CA406039589 | ATP1A3 | c.2362C>A (p.Pro788Thr) c.2323C>A (p.Pro775Thr) c.2356C>A (p.Pro786Thr) c.2233C>A (p.Pro745Thr) | ClinVar dbSNP |
19 | g.41970484G>A | CA507583164 | ATP1A3 | c.2361C>T (p.Ile787=) c.2322C>T (p.Ile774=) c.2355C>T (p.Ile785=) c.2232C>T (p.Ile744=) | gnomAD v4 |
19 | g.41970484G>C | CA406039590 | ATP1A3 | c.2361C>G (p.Ile787Met) c.2322C>G (p.Ile774Met) c.2355C>G (p.Ile785Met) c.2232C>G (p.Ile744Met) | |
19 | g.41970484G= | CA2336721016 | ATP1A3 | c.2361C= (p.Ile787=) c.2322C= (p.Ile774=) c.2355C= (p.Ile785=) c.2232C= (p.Ile744=) | |
19 | g.41970484G>T | CA507583165 | ATP1A3 | c.2361C>A (p.Ile787=) c.2322C>A (p.Ile774=) c.2355C>A (p.Ile785=) c.2232C>A (p.Ile744=) | dbSNP |
19 | g.41970485A>C | CA406039593 | ATP1A3 | c.2360T>G (p.Ile787Ser) c.2321T>G (p.Ile774Ser) c.2354T>G (p.Ile785Ser) c.2231T>G (p.Ile744Ser) | |
19 | g.41970485A>G | CA406039594 | ATP1A3 | c.2360T>C (p.Ile787Thr) c.2321T>C (p.Ile774Thr) c.2354T>C (p.Ile785Thr) c.2231T>C (p.Ile744Thr) | |
19 | g.41970485A>T | CA406039596 | ATP1A3 | c.2360T>A (p.Ile787Asn) c.2321T>A (p.Ile774Asn) c.2354T>A (p.Ile785Asn) c.2231T>A (p.Ile744Asn) | |
19 | g.41970486T>A | CA406039597 | ATP1A3 | c.2359A>T (p.Ile787Phe) c.2320A>T (p.Ile774Phe) c.2353A>T (p.Ile785Phe) c.2230A>T (p.Ile744Phe) | |
19 | g.41970486T>C | CA9467415 | ATP1A3 | c.2359A>G (p.Ile787Val) c.2320A>G (p.Ile774Val) c.2353A>G (p.Ile785Val) c.2230A>G (p.Ile744Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970486T>G | CA406039598 | ATP1A3 | c.2359A>C (p.Ile787Leu) c.2320A>C (p.Ile774Leu) c.2353A>C (p.Ile785Leu) c.2230A>C (p.Ile744Leu) | |
19 | g.41970486T= | CA2336721019 | ATP1A3 | c.2359A= (p.Ile787=) c.2320A= (p.Ile774=) c.2353A= (p.Ile785=) c.2230A= (p.Ile744=) | |
19 | g.41970487A= | CA2336721024 | ATP1A3 | c.2358T= (p.Asn786=) c.2319T= (p.Asn773=) c.2352T= (p.Asn784=) c.2229T= (p.Asn743=) | |
19 | g.41970487A>C | CA406039601 | ATP1A3 | c.2358T>G (p.Asn786Lys) c.2319T>G (p.Asn773Lys) c.2352T>G (p.Asn784Lys) c.2229T>G (p.Asn743Lys) | |
19 | g.41970487A>G | CA171285 | ATP1A3 | c.2358T>C (p.Asn786=) c.2319T>C (p.Asn773=) c.2352T>C (p.Asn784=) c.2229T>C (p.Asn743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41970487A>T | CA406039603 | ATP1A3 | c.2358T>A (p.Asn786Lys) c.2319T>A (p.Asn773Lys) c.2352T>A (p.Asn784Lys) c.2229T>A (p.Asn743Lys) | |
19 | g.41970488T>A | CA346022 | ATP1A3 | c.2357A>T (p.Asn786Ile) c.2318A>T (p.Asn773Ile) c.2351A>T (p.Asn784Ile) c.2228A>T (p.Asn743Ile) | dbSNP |
19 | g.41970488T>C | CA346021 | ATP1A3 | c.2357A>G (p.Asn786Ser) c.2318A>G (p.Asn773Ser) c.2351A>G (p.Asn784Ser) c.2228A>G (p.Asn743Ser) | ClinVar dbSNP |
19 | g.41970488T>G | CA406039607 | ATP1A3 | c.2357A>C (p.Asn786Thr) c.2318A>C (p.Asn773Thr) c.2351A>C (p.Asn784Thr) c.2228A>C (p.Asn743Thr) | |
19 | g.41970488T= | CA2336721029 | ATP1A3 | c.2357A= (p.Asn786=) c.2318A= (p.Asn773=) c.2351A= (p.Asn784=) c.2228A= (p.Asn743=) | |
19 | g.41970489T>A | CA406039609 | ATP1A3 | c.2356A>T (p.Asn786Tyr) c.2317A>T (p.Asn773Tyr) c.2350A>T (p.Asn784Tyr) c.2227A>T (p.Asn743Tyr) | |
19 | g.41970489T>C | CA406039610 | ATP1A3 | c.2356A>G (p.Asn786Asp) c.2317A>G (p.Asn773Asp) c.2350A>G (p.Asn784Asp) c.2227A>G (p.Asn743Asp) | |
19 | g.41970489T>G | CA406039611 | ATP1A3 | c.2356A>C (p.Asn786His) c.2317A>C (p.Asn773His) c.2350A>C (p.Asn784His) c.2227A>C (p.Asn743His) | |
19 | g.41970490G>A | CA507583171 | ATP1A3 | c.2355C>T (p.Ser785=) c.2316C>T (p.Ser772=) c.2349C>T (p.Ser783=) c.2226C>T (p.Ser742=) | |
19 | g.41970490G>C | CA308586631 | ATP1A3 | c.2355C>G (p.Ser785Arg) c.2316C>G (p.Ser772Arg) c.2349C>G (p.Ser783Arg) c.2226C>G (p.Ser742Arg) | dbSNP |
19 | g.41970490G= | CA2336721032 | ATP1A3 | c.2355C= (p.Ser785=) c.2316C= (p.Ser772=) c.2349C= (p.Ser783=) c.2226C= (p.Ser742=) | |
19 | g.41970490G>T | CA346020 | ATP1A3 | c.2355C>A (p.Ser785Arg) c.2316C>A (p.Ser772Arg) c.2349C>A (p.Ser783Arg) c.2226C>A (p.Ser742Arg) | dbSNP |
19 | g.41970491C>A | CA406039613 | ATP1A3 | c.2354G>T (p.Ser785Ile) c.2315G>T (p.Ser772Ile) c.2348G>T (p.Ser783Ile) c.2225G>T (p.Ser742Ile) | |
19 | g.41970491C= | CA2336721036 | ATP1A3 | c.2354G= (p.Ser785=) c.2315G= (p.Ser772=) c.2348G= (p.Ser783=) c.2225G= (p.Ser742=) | |
19 | g.41970491C>G | CA406039614 | ATP1A3 | c.2354G>C (p.Ser785Thr) c.2315G>C (p.Ser772Thr) c.2348G>C (p.Ser783Thr) c.2225G>C (p.Ser742Thr) | |
19 | g.41970491C>T | CA16620856 | ATP1A3 | c.2354G>A (p.Ser785Asn) c.2315G>A (p.Ser772Asn) c.2348G>A (p.Ser783Asn) c.2225G>A (p.Ser742Asn) | ClinVar dbSNP |
19 | g.41970492T>A | CA406039619 | ATP1A3 | c.2353A>T (p.Ser785Cys) c.2314A>T (p.Ser772Cys) c.2347A>T (p.Ser783Cys) c.2224A>T (p.Ser742Cys) | |
19 | g.41970492T>C | CA406039617 | ATP1A3 | c.2353A>G (p.Ser785Gly) c.2314A>G (p.Ser772Gly) c.2347A>G (p.Ser783Gly) c.2224A>G (p.Ser742Gly) | |
19 | g.41970492T>G | CA406039616 | ATP1A3 | c.2353A>C (p.Ser785Arg) c.2314A>C (p.Ser772Arg) c.2347A>C (p.Ser783Arg) c.2224A>C (p.Ser742Arg) | |
19 | g.41970493G>A | CA507583172 | ATP1A3 | c.2352C>T (p.Thr784=) c.2313C>T (p.Thr771=) c.2346C>T (p.Thr782=) c.2223C>T (p.Thr741=) | gnomAD v4 |
19 | g.41970493G>C | CA507583173 | ATP1A3 | c.2352C>G (p.Thr784=) c.2313C>G (p.Thr771=) c.2346C>G (p.Thr782=) c.2223C>G (p.Thr741=) | |
19 | g.41970493G>T | CA507583174 | ATP1A3 | c.2352C>A (p.Thr784=) c.2313C>A (p.Thr771=) c.2346C>A (p.Thr782=) c.2223C>A (p.Thr741=) | |
19 | g.41970494G>A | CA308586633 | ATP1A3 | c.2351C>T (p.Thr784Ile) c.2312C>T (p.Thr771Ile) c.2345C>T (p.Thr782Ile) c.2222C>T (p.Thr741Ile) | ClinVar dbSNP |
19 | g.41970494G>C | CA406039621 | ATP1A3 | c.2351C>G (p.Thr784Ser) c.2312C>G (p.Thr771Ser) c.2345C>G (p.Thr782Ser) c.2222C>G (p.Thr741Ser) | |
19 | g.41970494G= | CA2336721041 | ATP1A3 | c.2351C= (p.Thr784=) c.2312C= (p.Thr771=) c.2345C= (p.Thr782=) c.2222C= (p.Thr741=) | |
19 | g.41970494G>T | CA346018 | ATP1A3 | c.2351C>A (p.Thr784Asn) c.2312C>A (p.Thr771Asn) c.2345C>A (p.Thr782Asn) c.2222C>A (p.Thr741Asn) | dbSNP |
19 | g.41970495T>A | CA406039624 | ATP1A3 | c.2350A>T (p.Thr784Ser) c.2311A>T (p.Thr771Ser) c.2344A>T (p.Thr782Ser) c.2221A>T (p.Thr741Ser) | |
19 | g.41970495T>C | CA406039625 | ATP1A3 | c.2350A>G (p.Thr784Ala) c.2311A>G (p.Thr771Ala) c.2344A>G (p.Thr782Ala) c.2221A>G (p.Thr741Ala) | |
19 | g.41970495T>G | CA406039627 | ATP1A3 | c.2350A>C (p.Thr784Pro) c.2311A>C (p.Thr771Pro) c.2344A>C (p.Thr782Pro) c.2221A>C (p.Thr741Pro) | |
19 | g.41970496C>A | CA507583178 | ATP1A3 | c.2349G>T (p.Leu783=) c.2310G>T (p.Leu770=) c.2343G>T (p.Leu781=) c.2220G>T (p.Leu740=) | |
19 | g.41970496C= | CA2336721045 | ATP1A3 | c.2349G= (p.Leu783=) c.2310G= (p.Leu770=) c.2343G= (p.Leu781=) c.2220G= (p.Leu740=) | |
19 | g.41970496C>G | CA507583179 | ATP1A3 | c.2349G>C (p.Leu783=) c.2310G>C (p.Leu770=) c.2343G>C (p.Leu781=) c.2220G>C (p.Leu740=) | |
19 | g.41970496C>T | CA308586637 | ATP1A3 | c.2349G>A (p.Leu783=) c.2310G>A (p.Leu770=) c.2343G>A (p.Leu781=) c.2220G>A (p.Leu740=) | dbSNP |
19 | g.41970497A= | CA2336721049 | ATP1A3 | c.2348T= (p.Leu783=) c.2309T= (p.Leu770=) c.2342T= (p.Leu781=) c.2219T= (p.Leu740=) | |
19 | g.41970497A>C | CA308586643 | ATP1A3 | c.2348T>G (p.Leu783Arg) c.2309T>G (p.Leu770Arg) c.2342T>G (p.Leu781Arg) c.2219T>G (p.Leu740Arg) | ClinVar dbSNP |
19 | g.41970497A>G | CA406039630 | ATP1A3 | c.2348T>C (p.Leu783Pro) c.2309T>C (p.Leu770Pro) c.2342T>C (p.Leu781Pro) c.2219T>C (p.Leu740Pro) | |
19 | g.41970497A>T | CA406039632 | ATP1A3 | c.2348T>A (p.Leu783Gln) c.2309T>A (p.Leu770Gln) c.2342T>A (p.Leu781Gln) c.2219T>A (p.Leu740Gln) | |
19 | g.41970498G>A | CA507583181 | ATP1A3 | c.2347C>T (p.Leu783=) c.2308C>T (p.Leu770=) c.2341C>T (p.Leu781=) c.2218C>T (p.Leu740=) | dbSNP |
19 | g.41970498G>C | CA406039634 | ATP1A3 | c.2347C>G (p.Leu783Val) c.2308C>G (p.Leu770Val) c.2341C>G (p.Leu781Val) c.2218C>G (p.Leu740Val) | |
19 | g.41970498G= | CA2336721051 | ATP1A3 | c.2347C= (p.Leu783=) c.2308C= (p.Leu770=) c.2341C= (p.Leu781=) c.2218C= (p.Leu740=) | |
19 | g.41970498G>T | CA406039636 | ATP1A3 | c.2347C>A (p.Leu783Met) c.2308C>A (p.Leu770Met) c.2341C>A (p.Leu781Met) c.2218C>A (p.Leu740Met) | |
19 | g.41970499G>A | CA10648759 | ATP1A3 | c.2346C>T (p.Thr782=) c.2307C>T (p.Thr769=) c.2340C>T (p.Thr780=) c.2217C>T (p.Thr739=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970499G>C | CA507583183 | ATP1A3 | c.2346C>G (p.Thr782=) c.2307C>G (p.Thr769=) c.2340C>G (p.Thr780=) c.2217C>G (p.Thr739=) | |
19 | g.41970499G= | CA2336721053 | ATP1A3 | c.2346C= (p.Thr782=) c.2307C= (p.Thr769=) c.2340C= (p.Thr780=) c.2217C= (p.Thr739=) | |
19 | g.41970499G>T | CA507583185 | ATP1A3 | c.2346C>A (p.Thr782=) c.2307C>A (p.Thr769=) c.2340C>A (p.Thr780=) c.2217C>A (p.Thr739=) | |
19 | g.41970500G>A | CA406039642 | ATP1A3 | c.2345C>T (p.Thr782Ile) c.2306C>T (p.Thr769Ile) c.2339C>T (p.Thr780Ile) c.2216C>T (p.Thr739Ile) | |
19 | g.41970500G>C | CA406039639 | ATP1A3 | c.2345C>G (p.Thr782Ser) c.2306C>G (p.Thr769Ser) c.2339C>G (p.Thr780Ser) c.2216C>G (p.Thr739Ser) | |
19 | g.41970500G>T | CA406039640 | ATP1A3 | c.2345C>A (p.Thr782Asn) c.2306C>A (p.Thr769Asn) c.2339C>A (p.Thr780Asn) c.2216C>A (p.Thr739Asn) | |
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 |