UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160127565C>A | CA421599389 | ATP1A2 | c.762C>A (p.Gly254=) n.865C>A | |
| 1 | g.160127565C= | CA1202191845 | ATP1A2 | c.762C= (p.Gly254=) n.865C= | |
| 1 | g.160127565C>G | CA421599388 | ATP1A2 | c.762C>G (p.Gly254=) n.865C>G | |
| 1 | g.160127565C>T | CA1194284 | ATP1A2 | c.762C>T (p.Gly254=) n.865C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160127566A>C | CA343236991 | ATP1A2 | c.763A>C (p.Ile255Leu) n.866A>C | |
| 1 | g.160127566A>G | CA343236995 | ATP1A2 | c.763A>G (p.Ile255Val) n.866A>G | |
| 1 | g.160127566A>T | CA343236996 | ATP1A2 | c.763A>T (p.Ile255Phe) n.866A>T | |
| 1 | g.160127567T>A | CA343236997 | ATP1A2 | c.764T>A (p.Ile255Asn) n.867T>A | |
| 1 | g.160127567T>C | CA1194285 | ATP1A2 | c.764T>C (p.Ile255Thr) n.867T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160127567T>G | CA343236998 | ATP1A2 | c.764T>G (p.Ile255Ser) n.867T>G | |
| 1 | g.160127567T= | CA1142255462 | ATP1A2 | c.764T= (p.Ile255=) n.867T= | |
| 1 | g.160127568T>A | CA1194286 | ATP1A2 | c.765T>A (p.Ile255=) n.868T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160127568T>C | CA1194287 | ATP1A2 | c.765T>C (p.Ile255=) n.868T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160127568T>G | CA343237004 | ATP1A2 | c.765T>G (p.Ile255Met) n.868T>G | |
| 1 | g.160127568T= | CA1144182394 | ATP1A2 | c.765T= (p.Ile255=) n.868T= | |
| 1 | g.160127569G>A | CA343237005 | ATP1A2 | c.766G>A (p.Val256Met) n.869G>A | |
| 1 | g.160127569G>C | CA343237006 | ATP1A2 | c.766G>C (p.Val256Leu) n.869G>C | |
| 1 | g.160127569G>T | CA343237007 | ATP1A2 | c.766G>T (p.Val256Leu) n.869G>T | |
| 1 | g.160127570T>A | CA343237009 | ATP1A2 | c.767T>A (p.Val256Glu) n.870T>A | |
| 1 | g.160127570T>C | CA343237012 | ATP1A2 | c.767T>C (p.Val256Ala) n.870T>C | dbSNP |
| 1 | g.160127570T>G | CA343237014 | ATP1A2 | c.767T>G (p.Val256Gly) n.870T>G | |
| 1 | g.160127570T= | CA1202191846 | ATP1A2 | c.767T= (p.Val256=) n.870T= | |
| 1 | g.160127571G>A | CA421599396 | ATP1A2 | c.768G>A (p.Val256=) n.871G>A | |
| 1 | g.160127571G>C | CA421599397 | ATP1A2 | c.768G>C (p.Val256=) n.871G>C | |
| 1 | g.160127571G>T | CA421599400 | ATP1A2 | c.768G>T (p.Val256=) n.871G>T | |
| 1 | g.160127572A>C | CA343237027 | ATP1A2 | c.769A>C (p.Ile257Leu) n.872A>C | |
| 1 | g.160127572A>G | CA343237031 | ATP1A2 | c.769A>G (p.Ile257Val) n.872A>G | |
| 1 | g.160127572A>T | CA343237019 | ATP1A2 | c.769A>T (p.Ile257Phe) n.872A>T | |
| 1 | g.160127573T>A | CA343237035 | ATP1A2 | c.770T>A (p.Ile257Asn) n.873T>A | |
| 1 | g.160127573T>C | CA343237037 | ATP1A2 | c.770T>C (p.Ile257Thr) n.873T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160127573T>G | CA343237039 | ATP1A2 | c.770T>G (p.Ile257Ser) n.873T>G | |
| 1 | g.160127573T= | CA1202191847 | ATP1A2 | c.770T= (p.Ile257=) n.873T= | |
| 1 | g.160127574T>A | CA421599404 | ATP1A2 | c.771T>A (p.Ile257=) n.874T>A | |
| 1 | g.160127574T>C | CA421599406 | ATP1A2 | c.771T>C (p.Ile257=) n.874T>C | |
| 1 | g.160127574T>G | CA343237041 | ATP1A2 | c.771T>G (p.Ile257Met) n.874T>G | gnomAD v4 |
| 1 | g.160127575G>A | CA343237047 | ATP1A2 | c.772G>A (p.Ala258Thr) n.875G>A | |
| 1 | g.160127575G>C | CA343237046 | ATP1A2 | c.772G>C (p.Ala258Pro) n.875G>C | |
| 1 | g.160127575G>T | CA343237045 | ATP1A2 | c.772G>T (p.Ala258Ser) n.875G>T | |
| 1 | g.160127576C>A | CA343237048 | ATP1A2 | c.773C>A (p.Ala258Asp) n.876C>A | |
| 1 | g.160127576C>G | CA343237049 | ATP1A2 | c.773C>G (p.Ala258Gly) n.876C>G | |
| 1 | g.160127576C>T | CA343237051 | ATP1A2 | c.773C>T (p.Ala258Val) n.876C>T | |
| 1 | g.160127577C>A | CA421599412 | ATP1A2 | c.774C>A (p.Ala258=) n.877C>A | |
| 1 | g.160127577C>G | CA421599413 | ATP1A2 | c.774C>G (p.Ala258=) n.877C>G | |
| 1 | g.160127577C>T | CA421599414 | ATP1A2 | c.774C>T (p.Ala258=) n.877C>T | |
| 1 | g.160127578A>C | CA343237053 | ATP1A2 | c.775A>C (p.Thr259Pro) n.878A>C | |
| 1 | g.160127578A>G | CA343237058 | ATP1A2 | c.775A>G (p.Thr259Ala) n.878A>G | |
| 1 | g.160127578A>T | CA343237065 | ATP1A2 | c.775A>T (p.Thr259Ser) n.878A>T | |
| 1 | g.160127579C>A | CA343237071 | ATP1A2 | c.776C>A (p.Thr259Lys) n.879C>A | |
| 1 | g.160127579C= | CA1202191848 | ATP1A2 | c.776C= (p.Thr259=) n.879C= | |
| 1 | g.160127579C>G | CA343237077 | ATP1A2 | c.776C>G (p.Thr259Arg) n.879C>G | |
| 1 | g.160127579C>T | CA343237073 | ATP1A2 | c.776C>T (p.Thr259Ile) n.879C>T | dbSNP |
| 1 | g.160127580A>C | CA421599417 | ATP1A2 | c.777A>C (p.Thr259=) n.880A>C | |
| 1 | g.160127580A>G | CA421599424 | ATP1A2 | c.777A>G (p.Thr259=) n.880A>G | |
| 1 | g.160127580A>T | CA421599425 | ATP1A2 | c.777A>T (p.Thr259=) n.880A>T | |
| 1 | g.160127580_160127581delinsAG | CA1202191849 | ATP1A2 | c.777_778delinsAG (p.Thr259=) n.880_881delinsAG | |
| 1 | g.160127581G>A | CA343237082 | ATP1A2 | c.778G>A (p.Gly260Arg) n.881G>A | |
| 1 | g.160127581G>C | CA343237084 | ATP1A2 | c.778G>C (p.Gly260Arg) n.881G>C | |
| 1 | g.160127581G>T | CA343237086 | ATP1A2 | c.778G>T (p.Gly260Ter) n.881G>T | |
| 1 | g.160127582del | CA526678396 | ATP1A2 | c.779del (p.Gly260GlufsTer5) n.882del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160127582G>A | CA343237088 | ATP1A2 | c.779G>A (p.Gly260Glu) n.882G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160127582G>C | CA343237089 | ATP1A2 | c.779G>C (p.Gly260Ala) n.882G>C | |
| 1 | g.160127582G= | CA1202191850 | ATP1A2 | c.779G= (p.Gly260=) n.882G= | |
| 1 | g.160127582G>T | CA343237093 | ATP1A2 | c.779G>T (p.Gly260Val) n.882G>T | |
| 1 | g.160127583A>C | CA421599433 | ATP1A2 | c.780A>C (p.Gly260=) n.883A>C | |
| 1 | g.160127583A>G | CA421599434 | ATP1A2 | c.780A>G (p.Gly260=) n.883A>G | |
| 1 | g.160127583A>T | CA421599432 | ATP1A2 | c.780A>T (p.Gly260=) n.883A>T | COSMIC |
| 1 | g.160127584G>A | CA343237109 | ATP1A2 | c.781G>A (p.Asp261Asn) n.884G>A | gnomAD v4 |
| 1 | g.160127584G>C | CA343237119 | ATP1A2 | c.781G>C (p.Asp261His) n.884G>C | |
| 1 | g.160127584G>T | CA343237124 | ATP1A2 | c.781G>T (p.Asp261Tyr) n.884G>T | |
| 1 | g.160127585A>C | CA343237128 | ATP1A2 | c.782A>C (p.Asp261Ala) n.885A>C | |
| 1 | g.160127585A>G | CA343237134 | ATP1A2 | c.782A>G (p.Asp261Gly) n.885A>G | ClinVar COSMIC |
| 1 | g.160127585A>T | CA343237141 | ATP1A2 | c.782A>T (p.Asp261Val) n.885A>T | |
| 1 | g.160127586C>A | CA343237158 | ATP1A2 | c.783C>A (p.Asp261Glu) n.886C>A | |
| 1 | g.160127586C>G | CA343237151 | ATP1A2 | c.783C>G (p.Asp261Glu) n.886C>G | |
| 1 | g.160127586C>T | CA421599439 | ATP1A2 | c.783C>T (p.Asp261=) n.886C>T | |
| 1 | g.160127587C>A | CA421599441 | ATP1A2 | c.784C>A (p.Arg262=) n.887C>A | |
| 1 | g.160127587C= | CA1148722163 | ATP1A2 | c.784C= (p.Arg262=) n.887C= | |
| 1 | g.160127587C>G | CA343237165 | ATP1A2 | c.784C>G (p.Arg262Gly) n.887C>G | dbSNP |
| 1 | g.160127587C>T | CA1194288 | ATP1A2 | c.784C>T (p.Arg262Trp) n.887C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160127588G>A | CA1194289 | ATP1A2 | c.785G>A (p.Arg262Gln) n.888G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160127588G>C | CA343237175 | ATP1A2 | c.785G>C (p.Arg262Pro) n.888G>C | |
| 1 | g.160127588G= | CA1202191851 | ATP1A2 | c.785G= (p.Arg262=) n.888G= | |
| 1 | g.160127588G>T | CA343237177 | ATP1A2 | c.785G>T (p.Arg262Leu) n.888G>T | |
| 1 | g.160127589G>A | CA421599448 | ATP1A2 | c.786G>A (p.Arg262=) n.889G>A | |
| 1 | g.160127589G>C | CA421599451 | ATP1A2 | c.786G>C (p.Arg262=) n.889G>C | |
| 1 | g.160127589G>T | CA421599449 | ATP1A2 | c.786G>T (p.Arg262=) n.889G>T | |
| 1 | g.160127590A>C | CA343237181 | ATP1A2 | c.787A>C (p.Thr263Pro) n.890A>C | |
| 1 | g.160127590A>G | CA343237183 | ATP1A2 | c.787A>G (p.Thr263Ala) n.890A>G | |
| 1 | g.160127590A>T | CA343237200 | ATP1A2 | c.787A>T (p.Thr263Ser) n.890A>T | |
| 1 | g.160127591C>A | CA1194290 | ATP1A2 | c.788C>A (p.Thr263Lys) n.891C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160127591C= | CA1202191852 | ATP1A2 | c.788C= (p.Thr263=) n.891C= | |
| 1 | g.160127591C>G | CA343237211 | ATP1A2 | c.788C>G (p.Thr263Arg) n.891C>G | |
| 1 | g.160127591C>T | CA343237213 | ATP1A2 | c.788C>T (p.Thr263Met) n.891C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.160127592G>A | CA1194291 | ATP1A2 | c.789G>A (p.Thr263=) n.892G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160127592G>C | CA1194292 | ATP1A2 | c.789G>C (p.Thr263=) n.892G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160127592G= | CA1149050296 | ATP1A2 | c.789G= (p.Thr263=) n.892G= | |
| 1 | g.160127592G>T | CA421599458 | ATP1A2 | c.789G>T (p.Thr263=) n.892G>T | |
| 1 | g.160127593G>A | CA343237225 | ATP1A2 | c.790G>A (p.Val264Met) n.893G>A | COSMIC |
| 1 | g.160127593G>C | CA343237224 | ATP1A2 | c.790G>C (p.Val264Leu) n.893G>C | |
| 1 | g.160127593G>T | CA343237221 | ATP1A2 | c.790G>T (p.Val264Leu) n.893G>T | |
| 1 | g.160127594T>A | CA343237226 | ATP1A2 | c.791T>A (p.Val264Glu) n.894T>A | |
| 1 | g.160127594T>C | CA343237227 | ATP1A2 | c.791T>C (p.Val264Ala) n.894T>C | gnomAD v4 |
| 1 | g.160127594T>G | CA343237229 | ATP1A2 | c.791T>G (p.Val264Gly) n.894T>G | |
| 1 | g.160127595G>A | CA421599464 | ATP1A2 | c.792G>A (p.Val264=) n.895G>A | |
| 1 | g.160127595G>C | CA421599466 | ATP1A2 | c.792G>C (p.Val264=) n.895G>C | |
| 1 | g.160127595G>T | CA421599468 | ATP1A2 | c.792G>T (p.Val264=) n.895G>T | |
| 1 | g.160127596A>C | CA343237232 | ATP1A2 | c.793A>C (p.Met265Leu) n.896A>C | |
| 1 | g.160127596A>G | CA343237235 | ATP1A2 | c.793A>G (p.Met265Val) n.896A>G | |
| 1 | g.160127596A>T | CA343237236 | ATP1A2 | c.793A>T (p.Met265Leu) n.896A>T | |
| 1 | g.160127597T>A | CA343237239 | ATP1A2 | c.794T>A (p.Met265Lys) n.897T>A | |
| 1 | g.160127597T>C | CA343237241 | ATP1A2 | c.794T>C (p.Met265Thr) n.897T>C | ClinVar dbSNP |
| 1 | g.160127597T>G | CA343237243 | ATP1A2 | c.794T>G (p.Met265Arg) n.897T>G | |
| 1 | g.160127597T= | CA1202191853 | ATP1A2 | c.794T= (p.Met265=) n.897T= | |
| 1 | g.160127598G>A | CA343237245 | ATP1A2 | c.795G>A (p.Met265Ile) n.898G>A | |
| 1 | g.160127598G>C | CA343237246 | ATP1A2 | c.795G>C (p.Met265Ile) n.898G>C | |
| 1 | g.160127598G>T | CA343237254 | ATP1A2 | c.795G>T (p.Met265Ile) n.898G>T | |
| 1 | g.160127599G>A | CA343237263 | ATP1A2 | c.796G>A (p.Gly266Ser) n.899G>A | |
| 1 | g.160127599G>C | CA343237270 | ATP1A2 | c.796G>C (p.Gly266Arg) n.899G>C | |
| 1 | g.160127599G>T | CA343237260 | ATP1A2 | c.796G>T (p.Gly266Cys) n.899G>T | |
| 1 | g.160127600G>A | CA343237278 | ATP1A2 | c.797G>A (p.Gly266Asp) n.900G>A | dbSNP |
| 1 | g.160127600G>C | CA343237281 | ATP1A2 | c.797G>C (p.Gly266Ala) n.900G>C | |
| 1 | g.160127600G= | CA1202191854 | ATP1A2 | c.797G= (p.Gly266=) n.900G= | |
| 1 | g.160127600G>T | CA343237284 | ATP1A2 | c.797G>T (p.Gly266Val) n.900G>T | |
| 1 | g.160127601C>A | CA421599479 | ATP1A2 | c.798C>A (p.Gly266=) n.901C>A | |
| 1 | g.160127601C>G | CA421599481 | ATP1A2 | c.798C>G (p.Gly266=) n.901C>G | ClinVar |
| 1 | g.160127601C>T | CA421599482 | ATP1A2 | c.798C>T (p.Gly266=) n.901C>T | |
| 1 | g.160127602C>A | CA343237287 | ATP1A2 | c.799C>A (p.Arg267Ser) n.902C>A | |
| 1 | g.160127602C= | CA1202191855 | ATP1A2 | c.799C= (p.Arg267=) n.902C= | |
| 1 | g.160127602C>G | CA343237288 | ATP1A2 | c.799C>G (p.Arg267Gly) n.902C>G | |
| 1 | g.160127602C>T | CA343237291 | ATP1A2 | c.799C>T (p.Arg267Cys) n.902C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.160127603G>A | CA1194293 | ATP1A2 | c.800G>A (p.Arg267His) n.903G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.160127603G>C | CA343237295 | ATP1A2 | c.800G>C (p.Arg267Pro) n.903G>C | |
| 1 | g.160127603G= | CA1202191856 | ATP1A2 | c.800G= (p.Arg267=) n.903G= | |
| 1 | g.160127603G>T | CA343237297 | ATP1A2 | c.800G>T (p.Arg267Leu) n.903G>T | |
| 1 | g.160127604C>A | CA421599493 | ATP1A2 | c.801C>A (p.Arg267=) n.904C>A | |
| 1 | g.160127604C>G | CA421599495 | ATP1A2 | c.801C>G (p.Arg267=) n.904C>G | |
| 1 | g.160127604C>T | CA421599496 | ATP1A2 | c.801C>T (p.Arg267=) n.904C>T | |
| 1 | g.160127605A>C | CA343237299 | ATP1A2 | c.802A>C (p.Ile268Leu) n.905A>C | |
| 1 | g.160127605A>G | CA343237303 | ATP1A2 | c.802A>G (p.Ile268Val) n.905A>G | |
| 1 | g.160127605A>T | CA343237306 | ATP1A2 | c.802A>T (p.Ile268Leu) n.905A>T | |
| 1 | g.160127606T>A | CA343237312 | ATP1A2 | c.803T>A (p.Ile268Lys) n.906T>A | |
| 1 | g.160127606T>C | CA343237316 | ATP1A2 | c.803T>C (p.Ile268Thr) n.906T>C | |
| 1 | g.160127606T>G | CA343237309 | ATP1A2 | c.803T>G (p.Ile268Arg) n.906T>G | |
| 1 | g.160127607A>C | CA421599503 | ATP1A2 | c.804A>C (p.Ile268=) n.907A>C | |
| 1 | g.160127607A>G | CA343237319 | ATP1A2 | c.804A>G (p.Ile268Met) n.907A>G | |
| 1 | g.160127607A>T | CA421599507 | ATP1A2 | c.804A>T (p.Ile268=) n.907A>T | |
| 1 | g.160127608G>A | CA343237325 | ATP1A2 | c.805G>A (p.Ala269Thr) n.908G>A | ClinVar dbSNP |
| 1 | g.160127608G>C | CA343237328 | ATP1A2 | c.805G>C (p.Ala269Pro) n.908G>C | |
| 1 | g.160127608G>T | CA343237329 | ATP1A2 | c.805G>T (p.Ala269Ser) n.908G>T | |
| 1 | g.160127609C>A | CA343237336 | ATP1A2 | c.806C>A (p.Ala269Asp) n.909C>A | |
| 1 | g.160127609C>G | CA343237333 | ATP1A2 | c.806C>G (p.Ala269Gly) n.909C>G | |
| 1 | g.160127609C>T | CA343237330 | ATP1A2 | c.806C>T (p.Ala269Val) n.909C>T | |
| 1 | g.160127610T>A | CA421599513 | ATP1A2 | c.807T>A (p.Ala269=) n.910T>A | |
| 1 | g.160127610T>C | CA31493306 | ATP1A2 | c.807T>C (p.Ala269=) n.910T>C | dbSNP |
| 1 | g.160127610T>G | CA421599516 | ATP1A2 | c.807T>G (p.Ala269=) n.910T>G | |
| 1 | g.160127610T= | CA1202191857 | ATP1A2 | c.807T= (p.Ala269=) n.910T= | |
| 1 | g.160127611A>C | CA343237339 | ATP1A2 | c.808A>C (p.Thr270Pro) n.911A>C | |
| 1 | g.160127611A>G | CA343237348 | ATP1A2 | c.808A>G (p.Thr270Ala) n.911A>G | |
| 1 | g.160127611A>T | CA343237351 | ATP1A2 | c.808A>T (p.Thr270Ser) n.911A>T | |
| 1 | g.160127612C>A | CA343237352 | ATP1A2 | c.809C>A (p.Thr270Asn) n.912C>A | |
| 1 | g.160127612C>G | CA343237353 | ATP1A2 | c.809C>G (p.Thr270Ser) n.912C>G | |
| 1 | g.160127612C>T | CA343237354 | ATP1A2 | c.809C>T (p.Thr270Ile) n.912C>T | |
| 1 | g.160127613T>A | CA421599530 | ATP1A2 | c.810T>A (p.Thr270=) n.913T>A | |
| 1 | g.160127613T>C | CA421599532 | ATP1A2 | c.810T>C (p.Thr270=) n.913T>C | |
| 1 | g.160127613T>G | CA421599534 | ATP1A2 | c.810T>G (p.Thr270=) n.913T>G | ClinVar gnomAD v4 |
| 1 | g.160127614C>A | CA343237363 | ATP1A2 | c.811C>A (p.Leu271Ile) n.914C>A | |
| 1 | g.160127614C>G | CA343237362 | ATP1A2 | c.811C>G (p.Leu271Val) n.914C>G | |
| 1 | g.160127614C>T | CA343237357 | ATP1A2 | c.811C>T (p.Leu271Phe) n.914C>T | |
| 1 | g.160127615T>A | CA343237365 | ATP1A2 | c.812T>A (p.Leu271His) n.915T>A | |
| 1 | g.160127615T>C | CA343237366 | ATP1A2 | c.812T>C (p.Leu271Pro) n.915T>C | |
| 1 | g.160127615T>G | CA343237368 | ATP1A2 | c.812T>G (p.Leu271Arg) n.915T>G | |
| 1 | g.160127616C>A | CA421599537 | ATP1A2 | c.813C>A (p.Leu271=) n.916C>A | dbSNP |
| 1 | g.160127616C= | CA1148559160 | ATP1A2 | c.813C= (p.Leu271=) n.916C= | |
| 1 | g.160127616C>G | CA421599542 | ATP1A2 | c.813C>G (p.Leu271=) n.916C>G | ClinVar dbSNP |
| 1 | g.160127616C>T | CA1194294 | ATP1A2 | c.813C>T (p.Leu271=) n.916C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160127617G>A | CA1194295 | ATP1A2 | c.814G>A (p.Ala272Thr) n.917G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160127617G>C | CA343237379 | ATP1A2 | c.814G>C (p.Ala272Pro) n.917G>C | COSMIC |
| 1 | g.160127617G= | CA1143694313 | ATP1A2 | c.814G= (p.Ala272=) n.917G= | |
| 1 | g.160127617G>T | CA343237385 | ATP1A2 | c.814G>T (p.Ala272Ser) n.917G>T | |
| 1 | g.160127618C>A | CA343237404 | ATP1A2 | c.815C>A (p.Ala272Asp) n.918C>A | |
| 1 | g.160127618C= | CA1202191858 | ATP1A2 | c.815C= (p.Ala272=) n.918C= | |
| 1 | g.160127618C>G | CA343237390 | ATP1A2 | c.815C>G (p.Ala272Gly) n.918C>G | |
| 1 | g.160127618C>T | CA1194296 | ATP1A2 | c.815C>T (p.Ala272Val) n.918C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160127619C>A | CA421599549 | ATP1A2 | c.816C>A (p.Ala272=) n.919C>A | |
| 1 | g.160127619C>G | CA421599551 | ATP1A2 | c.816C>G (p.Ala272=) n.919C>G | gnomAD v4 |
| 1 | g.160127619C>T | CA421599552 | ATP1A2 | c.816C>T (p.Ala272=) n.919C>T | |
| 1 | g.160127620T>A | CA343237426 | ATP1A2 | c.817T>A (p.Ser273Thr) n.920T>A | |
| 1 | g.160127620T>C | CA343237433 | ATP1A2 | c.817T>C (p.Ser273Pro) n.920T>C | |
| 1 | g.160127620T>G | CA343237439 | ATP1A2 | c.817T>G (p.Ser273Ala) n.920T>G | |
| 1 | g.160127621C>A | CA343237443 | ATP1A2 | c.818C>A (p.Ser273Ter) n.921C>A | |
| 1 | g.160127621C>G | CA343237457 | ATP1A2 | c.818C>G (p.Ser273Ter) n.921C>G | |
| 1 | g.160127621C>T | CA343237473 | ATP1A2 | c.818C>T (p.Ser273Leu) n.921C>T | |
| 1 | g.160127622A>C | CA421599560 | ATP1A2 | c.819A>C (p.Ser273=) n.922A>C | |
| 1 | g.160127622A>G | CA421599561 | ATP1A2 | c.819A>G (p.Ser273=) n.922A>G | |
| 1 | g.160127622A>T | CA421599562 | ATP1A2 | c.819A>T (p.Ser273=) n.922A>T | |
| 1 | g.160127623G>A | CA1194297 | ATP1A2 | c.820G>A (p.Gly274Ser) n.923G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160127623G>C | CA343237485 | ATP1A2 | c.820G>C (p.Gly274Arg) n.923G>C | |
| 1 | g.160127623G= | CA1202191859 | ATP1A2 | c.820G= (p.Gly274=) n.923G= | |
| 1 | g.160127623G>T | CA343237480 | ATP1A2 | c.820G>T (p.Gly274Cys) n.923G>T | |
| 1 | g.160127624G>A | CA343237490 | ATP1A2 | c.821G>A (p.Gly274Asp) n.924G>A | gnomAD v4 |
| 1 | g.160127624G>C | CA343237495 | ATP1A2 | c.821G>C (p.Gly274Ala) n.924G>C | |
| 1 | g.160127624G>T | CA343237498 | ATP1A2 | c.821G>T (p.Gly274Val) n.924G>T | COSMIC |
| 1 | g.160127625C>A | CA421599570 | ATP1A2 | c.822C>A (p.Gly274=) n.925C>A | |
| 1 | g.160127625C= | CA1202191860 | ATP1A2 | c.822C= (p.Gly274=) n.925C= | |
| 1 | g.160127625C>G | CA421599571 | ATP1A2 | c.822C>G (p.Gly274=) n.925C>G | |
| 1 | g.160127625C>T | CA1194298 | ATP1A2 | c.822C>T (p.Gly274=) n.925C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160127626C>A | CA343237519 | ATP1A2 | c.823C>A (p.Leu275Met) n.926C>A | |
| 1 | g.160127626C>G | CA343237520 | ATP1A2 | c.823C>G (p.Leu275Val) n.926C>G | |
| 1 | g.160127626C>T | CA421599578 | ATP1A2 | c.823C>T (p.Leu275=) n.926C>T | |
| 1 | g.160127627T>A | CA343237522 | ATP1A2 | c.824T>A (p.Leu275Gln) n.927T>A | |
| 1 | g.160127627T>C | CA343237527 | ATP1A2 | c.824T>C (p.Leu275Pro) n.927T>C | |
| 1 | g.160127627T>G | CA343237529 | ATP1A2 | c.824T>G (p.Leu275Arg) n.927T>G | |
| 1 | g.160127628G>A | CA421599582 | ATP1A2 | c.825G>A (p.Leu275=) n.928G>A | |
| 1 | g.160127628G>C | CA421599586 | ATP1A2 | c.825G>C (p.Leu275=) n.928G>C | |
| 1 | g.160127628G>T | CA421599585 | ATP1A2 | c.825G>T (p.Leu275=) n.928G>T | |
| 1 | g.160127629G>A | CA343237534 | ATP1A2 | c.826G>A (p.Glu276Lys) n.929G>A | |
| 1 | g.160127629G>C | CA343237537 | ATP1A2 | c.826G>C (p.Glu276Gln) n.929G>C | |
| 1 | g.160127629G>T | CA343237538 | ATP1A2 | c.826G>T (p.Glu276Ter) n.929G>T | |
| 1 | g.160127630A>C | CA343237542 | ATP1A2 | c.827A>C (p.Glu276Ala) n.930A>C | |
| 1 | g.160127630A>G | CA343237546 | ATP1A2 | c.827A>G (p.Glu276Gly) n.930A>G | |
| 1 | g.160127630A>T | CA343237545 | ATP1A2 | c.827A>T (p.Glu276Val) n.930A>T | |
| 1 | g.160127631G>A | CA1194299 | ATP1A2 | c.828G>A (p.Glu276=) n.931G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160127631G>C | CA343237549 | ATP1A2 | c.828G>C (p.Glu276Asp) n.931G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160127631G= | CA1202191861 | ATP1A2 | c.828G= (p.Glu276=) n.931G= | |
| 1 | g.160127631G>T | CA343237550 | ATP1A2 | c.828G>T (p.Glu276Asp) n.931G>T | dbSNP |
| 1 | g.160127632G>A | CA343237551 | ATP1A2 | c.829G>A (p.Val277Ile) n.932G>A | |
| 1 | g.160127632G>C | CA343237552 | ATP1A2 | c.829G>C (p.Val277Leu) n.932G>C | |
| 1 | g.160127632G>T | CA343237554 | ATP1A2 | c.829G>T (p.Val277Phe) n.932G>T | |
| 1 | g.160127633T>A | CA343237556 | ATP1A2 | c.830T>A (p.Val277Asp) n.933T>A | |
| 1 | g.160127633T>C | CA343237557 | ATP1A2 | c.830T>C (p.Val277Ala) n.933T>C | gnomAD v4 COSMIC |
| 1 | g.160127633T>G | CA343237558 | ATP1A2 | c.830T>G (p.Val277Gly) n.933T>G | gnomAD v4 |
| 1 | g.160127634T>A | CA421599595 | ATP1A2 | c.831T>A (p.Val277=) n.934T>A | |
| 1 | g.160127634T>C | CA421599598 | ATP1A2 | c.831T>C (p.Val277=) n.934T>C | |
| 1 | g.160127634T>G | CA421599599 | ATP1A2 | c.831T>G (p.Val277=) n.934T>G | |
| 1 | g.160127635G>A | CA343237560 | ATP1A2 | c.832G>A (p.Gly278Arg) n.935G>A | |
| 1 | g.160127635G>C | CA343237564 | ATP1A2 | c.832G>C (p.Gly278Arg) n.935G>C | |
| 1 | g.160127635G>T | CA343237566 | ATP1A2 | c.832G>T (p.Gly278Trp) n.935G>T | |
| 1 | g.160127636G>A | CA343237575 | ATP1A2 | c.833G>A (p.Gly278Glu) n.936G>A | |
| 1 | g.160127636G>C | CA343237573 | ATP1A2 | c.833G>C (p.Gly278Ala) n.936G>C | |
| 1 | g.160127636G>T | CA343237572 | ATP1A2 | c.833G>T (p.Gly278Val) n.936G>T | |
| 1 | g.160127636_160127637delinsAA | CA645531311 | ATP1A2 | c.833_834delinsAA (p.Gly278Glu) n.936_937delinsAA | COSMIC |
| 1 | g.160127637G>A | CA421599607 | ATP1A2 | c.834G>A (p.Gly278=) n.937G>A | gnomAD v4 |
| 1 | g.160127637G>C | CA421599606 | ATP1A2 | c.834G>C (p.Gly278=) n.937G>C | |
| 1 | g.160127637G= | CA1202191863 | ATP1A2 | c.834G= (p.Gly278=) n.937G= | |
| 1 | g.160127637G>T | CA1194300 | ATP1A2 | c.834G>T (p.Gly278=) n.937G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160127637_160127638delinsGC | CA1202191862 | ATP1A2 | c.834_835delinsGC (p.Gly278=) n.937_938delinsGC | |
| 1 | g.160127638del | CA913189843 | ATP1A2 | c.835del (p.Arg279GlyfsTer4) n.938del | ClinVar dbSNP |
| 1 | g.160127638C>A | CA421599608 | ATP1A2 | c.835C>A (p.Arg279=) n.938C>A | |
| 1 | g.160127638C= | CA1202191864 | ATP1A2 | c.835C= (p.Arg279=) n.938C= | |
| 1 | g.160127638C>G | CA343237580 | ATP1A2 | c.835C>G (p.Arg279Gly) n.938C>G | |
| 1 | g.160127638C>T | CA343237581 | ATP1A2 | c.835C>T (p.Arg279Trp) n.938C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.160127639G>A | CA247550 | ATP1A2 | c.836G>A (p.Arg279Gln) n.939G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160127639G>C | CA343237582 | ATP1A2 | c.836G>C (p.Arg279Pro) n.939G>C | |
| 1 | g.160127639G= | CA1143911859 | ATP1A2 | c.836G= (p.Arg279=) n.939G= | |
| 1 | g.160127639G>T | CA343237583 | ATP1A2 | c.836G>T (p.Arg279Leu) n.939G>T | gnomAD v4 COSMIC |
| 1 | g.160127640G>A | CA421599620 | ATP1A2 | c.837G>A (p.Arg279=) n.940G>A | |
| 1 | g.160127640G>C | CA421599621 | ATP1A2 | c.837G>C (p.Arg279=) n.940G>C | |
| 1 | g.160127640G>T | CA421599622 | ATP1A2 | c.837G>T (p.Arg279=) n.940G>T | |
| 1 | g.160127641A>C | CA343237584 | ATP1A2 | c.838A>C (p.Thr280Pro) n.941A>C | |
| 1 | g.160127641A>G | CA343237593 | ATP1A2 | c.838A>G (p.Thr280Ala) n.941A>G | |
| 1 | g.160127641A>T | CA343237596 | ATP1A2 | c.838A>T (p.Thr280Ser) n.941A>T | |
| 1 | g.160127642C>A | CA343237598 | ATP1A2 | c.839C>A (p.Thr280Lys) n.942C>A | |
| 1 | g.160127642C= | CA1202191865 | ATP1A2 | c.839C= (p.Thr280=) n.942C= | |
| 1 | g.160127642C>G | CA343237599 | ATP1A2 | c.839C>G (p.Thr280Arg) n.942C>G | |
| 1 | g.160127642C>T | CA343237601 | ATP1A2 | c.839C>T (p.Thr280Ile) n.942C>T | ClinVar dbSNP |
| 1 | g.160127643A>C | CA421599631 | ATP1A2 | c.840A>C (p.Thr280=) n.943A>C | |
| 1 | g.160127643A>G | CA421599632 | ATP1A2 | c.840A>G (p.Thr280=) n.943A>G | |
| 1 | g.160127643A>T | CA421599636 | ATP1A2 | c.840A>T (p.Thr280=) n.943A>T | |
| 1 | g.160127644C>A | CA343237603 | ATP1A2 | c.841C>A (p.Pro281Thr) n.944C>A | ClinVar |
| 1 | g.160127644C= | CA1202191866 | ATP1A2 | c.841C= (p.Pro281=) n.944C= | |
| 1 | g.160127644C>G | CA343237606 | ATP1A2 | c.841C>G (p.Pro281Ala) n.944C>G | |
| 1 | g.160127644C>T | CA1194301 | ATP1A2 | c.841C>T (p.Pro281Ser) n.944C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160127645C>A | CA343237608 | ATP1A2 | c.842C>A (p.Pro281His) n.945C>A | |
| 1 | g.160127645C>G | CA343237613 | ATP1A2 | c.842C>G (p.Pro281Arg) n.945C>G | |
| 1 | g.160127645C>T | CA343237612 | ATP1A2 | c.842C>T (p.Pro281Leu) n.945C>T | |
| 1 | g.160127646C>A | CA421599641 | ATP1A2 | c.843C>A (p.Pro281=) n.946C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160127646C= | CA1202191867 | ATP1A2 | c.843C= (p.Pro281=) n.946C= | |
| 1 | g.160127646C>G | CA421599643 | ATP1A2 | c.843C>G (p.Pro281=) n.946C>G | |
| 1 | g.160127646C>T | CA421599644 | ATP1A2 | c.843C>T (p.Pro281=) n.946C>T | |
| 1 | g.160127647A= | CA1202191868 | ATP1A2 | c.844A= (p.Ile282=) n.947A= | |
| 1 | g.160127647A>C | CA343237614 | ATP1A2 | c.844A>C (p.Ile282Leu) n.947A>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160127647A>G | CA343237615 | ATP1A2 | c.844A>G (p.Ile282Val) n.947A>G | |
| 1 | g.160127647A>T | CA343237618 | ATP1A2 | c.844A>T (p.Ile282Leu) n.947A>T | |
| 1 | g.160127648T>A | CA343237620 | ATP1A2 | c.845T>A (p.Ile282Lys) n.948T>A | |
| 1 | g.160127648T>C | CA343237622 | ATP1A2 | c.845T>C (p.Ile282Thr) n.948T>C | |
| 1 | g.160127648T>G | CA343237626 | ATP1A2 | c.845T>G (p.Ile282Arg) n.948T>G | |
| 1 | g.160127649A>C | CA421599649 | ATP1A2 | c.846A>C (p.Ile282=) n.949A>C | |
| 1 | g.160127649A>G | CA343237628 | ATP1A2 | c.846A>G (p.Ile282Met) n.949A>G | |
| 1 | g.160127649A>T | CA421599651 | ATP1A2 | c.846A>T (p.Ile282=) n.949A>T | |
| 1 | g.160127650G>A | CA343237632 | ATP1A2 | c.847G>A (p.Ala283Thr) n.950G>A | ClinVar |
| 1 | g.160127650G>C | CA343237634 | ATP1A2 | c.847G>C (p.Ala283Pro) n.950G>C | |
| 1 | g.160127650G>T | CA343237636 | ATP1A2 | c.847G>T (p.Ala283Ser) n.950G>T | |
| 1 | g.160127651C>A | CA343237638 | ATP1A2 | c.848C>A (p.Ala283Glu) n.951C>A | ClinVar |
| 1 | g.160127651C= | CA1202191869 | ATP1A2 | c.848C= (p.Ala283=) n.951C= | |
| 1 | g.160127651C>G | CA343237642 | ATP1A2 | c.848C>G (p.Ala283Gly) n.951C>G | |
| 1 | g.160127651C>T | CA343237644 | ATP1A2 | c.848C>T (p.Ala283Val) n.951C>T | ClinVar dbSNP |
| 1 | g.160127652A>C | CA421599659 | ATP1A2 | c.849A>C (p.Ala283=) n.952A>C | |
| 1 | g.160127652A>G | CA421599662 | ATP1A2 | c.849A>G (p.Ala283=) n.952A>G | |
| 1 | g.160127652A>T | CA421599665 | ATP1A2 | c.849A>T (p.Ala283=) n.952A>T | |
| 1 | g.160127653A= | CA1202191870 | ATP1A2 | c.850A= (p.Met284=) n.953A= | |
| 1 | g.160127653A>C | CA343237648 | ATP1A2 | c.850A>C (p.Met284Leu) n.953A>C | |
| 1 | g.160127653A>G | CA31493341 | ATP1A2 | c.850A>G (p.Met284Val) n.953A>G | dbSNP |
| 1 | g.160127653A>T | CA343237655 | ATP1A2 | c.850A>T (p.Met284Leu) n.953A>T | |
| 1 | g.160127654T>A | CA343237658 | ATP1A2 | c.851T>A (p.Met284Lys) n.954T>A | |
| 1 | g.160127654T>C | CA343237660 | ATP1A2 | c.851T>C (p.Met284Thr) n.954T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160127654T>G | CA343237664 | ATP1A2 | c.851T>G (p.Met284Arg) n.954T>G | |
| 1 | g.160127654T= | CA1202191871 | ATP1A2 | c.851T= (p.Met284=) n.954T= | |
| 1 | g.160127655G>A | CA343237666 | ATP1A2 | c.852G>A (p.Met284Ile) n.955G>A | |
| 1 | g.160127655G>C | CA343237668 | ATP1A2 | c.852G>C (p.Met284Ile) n.955G>C | |
| 1 | g.160127655G>T | CA343237670 | ATP1A2 | c.852G>T (p.Met284Ile) n.955G>T | |
| 1 | g.160127656G>A | CA343237674 | ATP1A2 | c.853G>A (p.Glu285Lys) n.956G>A | |
| 1 | g.160127656G>C | CA343237676 | ATP1A2 | c.853G>C (p.Glu285Gln) n.956G>C | |
| 1 | g.160127656G>T | CA343237677 | ATP1A2 | c.853G>T (p.Glu285Ter) n.956G>T | |
| 1 | g.160127657A>C | CA343237686 | ATP1A2 | c.854A>C (p.Glu285Ala) n.957A>C | |
| 1 | g.160127657A>G | CA343237683 | ATP1A2 | c.854A>G (p.Glu285Gly) n.957A>G | gnomAD v4 |
| 1 | g.160127657A>T | CA343237681 | ATP1A2 | c.854A>T (p.Glu285Val) n.957A>T | |
| 1 | g.160127658G>A | CA421599680 | ATP1A2 | c.855G>A (p.Glu285=) n.958G>A | dbSNP |
| 1 | g.160127658G>C | CA343237687 | ATP1A2 | c.855G>C (p.Glu285Asp) n.958G>C | |
| 1 | g.160127658G= | CA1202191872 | ATP1A2 | c.855G= (p.Glu285=) n.958G= | |
| 1 | g.160127658G>T | CA343237688 | ATP1A2 | c.855G>T (p.Glu285Asp) n.958G>T | |
| 1 | g.160127658dup | CA2573131133 | ATP1A2 | c.855dup (p.Ile286AspfsTer2) n.958dup | ClinVar dbSNP |
| 1 | g.160127659A>C | CA343237689 | ATP1A2 | c.856A>C (p.Ile286Leu) n.959A>C | |
| 1 | g.160127659A>G | CA343237690 | ATP1A2 | c.856A>G (p.Ile286Val) n.959A>G | |
| 1 | g.160127659A>T | CA343237693 | ATP1A2 | c.856A>T (p.Ile286Phe) n.959A>T | |
| 1 | g.160127660T>A | CA343237697 | ATP1A2 | c.857T>A (p.Ile286Asn) n.960T>A | |
| 1 | g.160127660T>C | CA256647 | ATP1A2 | c.857T>C (p.Ile286Thr) n.960T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160127660T>G | CA343237701 | ATP1A2 | c.857T>G (p.Ile286Ser) n.960T>G | |
| 1 | g.160127660T= | CA1141581111 | ATP1A2 | c.857T= (p.Ile286=) n.960T= | |
| 1 | g.160127661T>A | CA421599685 | ATP1A2 | c.858T>A (p.Ile286=) n.961T>A | |
| 1 | g.160127661T>C | CA421599687 | ATP1A2 | c.858T>C (p.Ile286=) n.961T>C | |
| 1 | g.160127661T>G | CA343237705 | ATP1A2 | c.858T>G (p.Ile286Met) n.961T>G | |
| 1 | g.160127662G>A | CA343237710 | ATP1A2 | c.859G>A (p.Glu287Lys) n.962G>A | |
| 1 | g.160127662G>C | CA343237712 | ATP1A2 | c.859G>C (p.Glu287Gln) n.962G>C | |
| 1 | g.160127662G>T | CA343237715 | ATP1A2 | c.859G>T (p.Glu287Ter) n.962G>T | |
| 1 | g.160127663A>C | CA343237726 | ATP1A2 | c.860A>C (p.Glu287Ala) n.963A>C | |
| 1 | g.160127663A>G | CA343237724 | ATP1A2 | c.860A>G (p.Glu287Gly) n.963A>G | |
| 1 | g.160127663A>T | CA343237719 | ATP1A2 | c.860A>T (p.Glu287Val) n.963A>T | |
| 1 | g.160127664A>C | CA343237730 | ATP1A2 | c.861A>C (p.Glu287Asp) n.964A>C | |
| 1 | g.160127664A>G | CA421599694 | ATP1A2 | c.861A>G (p.Glu287=) n.964A>G | |
| 1 | g.160127664A>T | CA343237734 | ATP1A2 | c.861A>T (p.Glu287Asp) n.964A>T | |
| 1 | g.160127665C>A | CA343237740 | ATP1A2 | c.862C>A (p.His288Asn) n.965C>A | |
| 1 | g.160127665C= | CA1202191873 | ATP1A2 | c.862C= (p.His288=) n.965C= | |
| 1 | g.160127665C>G | CA343237741 | ATP1A2 | c.862C>G (p.His288Asp) n.965C>G | |
| 1 | g.160127665C>T | CA1194302 | ATP1A2 | c.862C>T (p.His288Tyr) n.965C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |