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.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 |
| 1 | g.160127666A>C | CA343237742 | ATP1A2 | c.863A>C (p.His288Pro) n.966A>C | gnomAD v4 |
| 1 | g.160127666A>G | CA343237743 | ATP1A2 | c.863A>G (p.His288Arg) n.966A>G | |
| 1 | g.160127666A>T | CA343237747 | ATP1A2 | c.863A>T (p.His288Leu) n.966A>T | |
| 1 | g.160127667C>A | CA343237751 | ATP1A2 | c.864C>A (p.His288Gln) n.967C>A | |
| 1 | g.160127667C>G | CA343237756 | ATP1A2 | c.864C>G (p.His288Gln) n.967C>G | |
| 1 | g.160127667C>T | CA421599705 | ATP1A2 | c.864C>T (p.His288=) n.967C>T | gnomAD v4 |
| 1 | g.160127668T>A | CA343237764 | ATP1A2 | c.865T>A (p.Phe289Ile) n.968T>A | |
| 1 | g.160127668T>C | CA343237767 | ATP1A2 | c.865T>C (p.Phe289Leu) n.968T>C | |
| 1 | g.160127668T>G | CA343237779 | ATP1A2 | c.865T>G (p.Phe289Val) n.968T>G | |
| 1 | g.160127669T>A | CA343237794 | ATP1A2 | c.866T>A (p.Phe289Tyr) n.969T>A | |
| 1 | g.160127669T>C | CA343237791 | ATP1A2 | c.866T>C (p.Phe289Ser) n.969T>C | |
| 1 | g.160127669T>G | CA343237786 | ATP1A2 | c.866T>G (p.Phe289Cys) n.969T>G | |
| 1 | g.160127669_160127673delinsTCATC | CA1202191874 | ATP1A2 | c.866_870delinsTCATC (p.Phe289=) n.969_973delinsTCATC | |
| 1 | g.160127670C>A | CA343237803 | ATP1A2 | c.867C>A (p.Phe289Leu) n.970C>A | gnomAD v4 |
| 1 | g.160127670C>G | CA343237798 | ATP1A2 | c.867C>G (p.Phe289Leu) n.970C>G | |
| 1 | g.160127670C>T | CA421599722 | ATP1A2 | c.867C>T (p.Phe289=) n.970C>T | |
| 1 | g.160127672_160127675del | CA31493347 | ATP1A2 | c.869_872del (p.Ile290SerfsTer2) n.972_975del | ClinVar dbSNP gnomAD v4 |
| 1 | g.160127671A>C | CA343237820 | ATP1A2 | c.868A>C (p.Ile290Leu) n.971A>C | |
| 1 | g.160127671A>G | CA343237823 | ATP1A2 | c.868A>G (p.Ile290Val) n.971A>G | |
| 1 | g.160127671A>T | CA343237821 | ATP1A2 | c.868A>T (p.Ile290Phe) n.971A>T | |
| 1 | g.160127672T>A | CA343237829 | ATP1A2 | c.869T>A (p.Ile290Asn) c.1T>A n.972T>A | |
| 1 | g.160127672T>C | CA343237830 | ATP1A2 | c.869T>C (p.Ile290Thr) c.1T>C n.972T>C | |
| 1 | g.160127672T>G | CA343237832 | ATP1A2 | c.869T>G (p.Ile290Ser) c.1T>G n.972T>G | |
| 1 | g.160127673C>A | CA421599724 | ATP1A2 | c.870C>A (p.Ile290=) c.2C>A n.973C>A | |
| 1 | g.160127673C>G | CA343237835 | ATP1A2 | c.870C>G (p.Ile290Met) c.2C>G n.973C>G | |
| 1 | g.160127673C>T | CA421599730 | ATP1A2 | c.870C>T (p.Ile290=) c.2C>T n.973C>T | |
| 1 | g.160127674C>A | CA343237836 | ATP1A2 | c.871C>A (p.Gln291Lys) c.3C>A n.974C>A | |
| 1 | g.160127674C= | CA1202191875 | ATP1A2 | c.871C= (p.Gln291=) c.3C= n.974C= | |
| 1 | g.160127674C>G | CA343237838 | ATP1A2 | c.871C>G (p.Gln291Glu) c.3C>G n.974C>G | |
| 1 | g.160127674C>T | CA31493348 | ATP1A2 | c.871C>T (p.Gln291Ter) c.3C>T n.974C>T | dbSNP |
| 1 | g.160127675A= | CA1202191876 | ATP1A2 | c.872A= (p.Gln291=) c.4A= n.975A= | |
| 1 | g.160127675A>C | CA343237841 | ATP1A2 | c.872A>C (p.Gln291Pro) c.4A>C n.975A>C | gnomAD v4 |
| 1 | g.160127675A>G | CA343237842 | ATP1A2 | c.872A>G (p.Gln291Arg) c.4A>G n.975A>G | dbSNP gnomAD v2 |
| 1 | g.160127675A>T | CA343237843 | ATP1A2 | c.872A>T (p.Gln291Leu) c.4A>T n.975A>T | dbSNP |
| 1 | g.160127676G>A | CA31493350 | ATP1A2 | c.873G>A (p.Gln291=) c.5G>A n.976G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.160127676G>C | CA343237846 | ATP1A2 | c.873G>C (p.Gln291His) c.5G>C n.976G>C | |
| 1 | g.160127676G= | CA1202191877 | ATP1A2 | c.873G= (p.Gln291=) c.5G= n.976G= | |
| 1 | g.160127676G>T | CA343237848 | ATP1A2 | c.873G>T (p.Gln291His) c.5G>T n.976G>T | dbSNP |
| 1 | g.160127677C>A | CA343237851 | ATP1A2 | c.874C>A (p.Leu292Met) c.6C>A n.977C>A | |
| 1 | g.160127677C>G | CA343237878 | ATP1A2 | c.874C>G (p.Leu292Val) c.6C>G n.977C>G | |
| 1 | g.160127677C>T | CA421599736 | ATP1A2 | c.874C>T (p.Leu292=) c.6C>T n.977C>T | gnomAD v4 |
| 1 | g.160127678T>A | CA343237879 | ATP1A2 | c.875T>A (p.Leu292Gln) c.7T>A n.978T>A | |
| 1 | g.160127678T>C | CA343237882 | ATP1A2 | c.875T>C (p.Leu292Pro) c.7T>C n.978T>C | |
| 1 | g.160127678T>G | CA343237887 | ATP1A2 | c.875T>G (p.Leu292Arg) c.7T>G n.978T>G | |
| 1 | g.160127679G>A | CA421599739 | ATP1A2 | c.876G>A (p.Leu292=) c.8G>A n.979G>A | ClinVar |
| 1 | g.160127679G>C | CA421599740 | ATP1A2 | c.876G>C (p.Leu292=) c.8G>C n.979G>C | |
| 1 | g.160127679G>T | CA421599741 | ATP1A2 | c.876G>T (p.Leu292=) c.8G>T n.979G>T | |
| 1 | g.160127680A>C | CA343237892 | ATP1A2 | c.877A>C (p.Ile293Leu) c.9A>C n.980A>C | |
| 1 | g.160127680A>G | CA343237895 | ATP1A2 | c.877A>G (p.Ile293Val) c.9A>G n.980A>G | |
| 1 | g.160127680A>T | CA343237897 | ATP1A2 | c.877A>T (p.Ile293Phe) c.9A>T n.980A>T | |
| 1 | g.160127681T>A | CA343237906 | ATP1A2 | c.878T>A (p.Ile293Asn) c.10T>A n.981T>A | |
| 1 | g.160127681T>C | CA343237908 | ATP1A2 | c.878T>C (p.Ile293Thr) c.10T>C n.981T>C | |
| 1 | g.160127681T>G | CA343237914 | ATP1A2 | c.878T>G (p.Ile293Ser) c.10T>G n.981T>G | |
| 1 | g.160127682C>A | CA421599749 | ATP1A2 | c.879C>A (p.Ile293=) c.11C>A n.982C>A | |
| 1 | g.160127682C= | CA1202191878 | ATP1A2 | c.879C= (p.Ile293=) c.11C= n.982C= | |
| 1 | g.160127682C>G | CA343237918 | ATP1A2 | c.879C>G (p.Ile293Met) c.11C>G n.982C>G | ClinVar dbSNP |
| 1 | g.160127682C>T | CA421599750 | ATP1A2 | c.879C>T (p.Ile293=) c.11C>T n.982C>T | |
| 1 | g.160127683A>C | CA343237920 | ATP1A2 | c.880A>C (p.Thr294Pro) c.12A>C n.983A>C | |
| 1 | g.160127683A>G | CA343237922 | ATP1A2 | c.880A>G (p.Thr294Ala) c.12A>G n.983A>G | |
| 1 | g.160127683A>T | CA343237926 | ATP1A2 | c.880A>T (p.Thr294Ser) c.12A>T n.983A>T | |
| 1 | g.160127683_160127699delinsACAGGGGTCGCTGTATT | CA1202191879 | ATP1A2 | c.880_896delinsACAGGGGTCGCTGTATT (p.Thr294=) c.12_28delinsACAGGGGTCGCTGTATT n.983_999delinsACAGGGGTCGCTGTATT | |
| 1 | g.160127684C>A | CA343237949 | ATP1A2 | c.881C>A (p.Thr294Lys) c.13C>A n.984C>A | |
| 1 | g.160127684C>G | CA343237944 | ATP1A2 | c.881C>G (p.Thr294Arg) c.13C>G n.984C>G | |
| 1 | g.160127684C>T | CA343237947 | ATP1A2 | c.881C>T (p.Thr294Ile) c.13C>T n.984C>T | ClinVar |
| 1 | g.160127685_160127700del | CA16617008 | ATP1A2 | c.882_897del (p.Gly295TrpfsTer27) c.14_29del n.985_1000del | ClinVar dbSNP |
| 1 | g.160127685del | CA2648642078 | ATP1A2 | c.882del (p.Val296SerfsTer?) c.14del n.985del | gnomAD v4 |
| 1 | g.160127685A>C | CA421599756 | ATP1A2 | c.882A>C (p.Thr294=) c.14A>C n.985A>C | |
| 1 | g.160127685A>G | CA421599757 | ATP1A2 | c.882A>G (p.Thr294=) c.14A>G n.985A>G | |
| 1 | g.160127685A>T | CA421599758 | ATP1A2 | c.882A>T (p.Thr294=) c.14A>T n.985A>T | |
| 1 | g.160127686G>A | CA343237964 | ATP1A2 | c.883G>A (p.Gly295Arg) c.15G>A n.986G>A | |
| 1 | g.160127686G>C | CA343237970 | ATP1A2 | c.883G>C (p.Gly295Arg) c.15G>C n.986G>C | |
| 1 | g.160127686G>T | CA343237973 | ATP1A2 | c.883G>T (p.Gly295Trp) c.15G>T n.986G>T | |
| 1 | g.160127687G>A | CA343237982 | ATP1A2 | c.884G>A (p.Gly295Glu) c.16G>A n.987G>A | gnomAD v4 |
| 1 | g.160127687G>C | CA343237988 | ATP1A2 | c.884G>C (p.Gly295Ala) c.16G>C n.987G>C | |
| 1 | g.160127687G>T | CA343237989 | ATP1A2 | c.884G>T (p.Gly295Val) c.16G>T n.987G>T | |
| 1 | g.160127688G>A | CA31493371 | ATP1A2 | c.885G>A (p.Gly295=) c.17G>A n.988G>A | dbSNP gnomAD v4 |
| 1 | g.160127688G>C | CA421599763 | ATP1A2 | c.885G>C (p.Gly295=) c.17G>C n.988G>C | ClinVar gnomAD v4 COSMIC |
| 1 | g.160127688G= | CA1202191880 | ATP1A2 | c.885G= (p.Gly295=) c.17G= n.988G= | |
| 1 | g.160127688G>T | CA421599764 | ATP1A2 | c.885G>T (p.Gly295=) c.17G>T n.988G>T | |
| 1 | g.160127689G>A | CA343237990 | ATP1A2 | c.886G>A (p.Val296Ile) c.18G>A n.989G>A | |
| 1 | g.160127689G>C | CA343237991 | ATP1A2 | c.886G>C (p.Val296Leu) c.18G>C n.989G>C | |
| 1 | g.160127689G>T | CA343237992 | ATP1A2 | c.886G>T (p.Val296Phe) c.18G>T n.989G>T | |
| 1 | g.160127690T>A | CA343237994 | ATP1A2 | c.887T>A (p.Val296Asp) c.19T>A n.990T>A | |
| 1 | g.160127690T>C | CA343237998 | ATP1A2 | c.887T>C (p.Val296Ala) c.19T>C n.990T>C | |
| 1 | g.160127690T>G | CA343238002 | ATP1A2 | c.887T>G (p.Val296Gly) c.19T>G n.990T>G | |
| 1 | g.160127691C>A | CA421599768 | ATP1A2 | c.888C>A (p.Val296=) c.20C>A n.991C>A | gnomAD v4 |
| 1 | g.160127691C= | CA1202191881 | ATP1A2 | c.888C= (p.Val296=) c.20C= n.991C= | |
| 1 | g.160127691C>G | CA421599770 | ATP1A2 | c.888C>G (p.Val296=) c.20C>G n.991C>G | |
| 1 | g.160127691C>T | CA1194303 | ATP1A2 | c.888C>T (p.Val296=) c.20C>T n.991C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160127692G>A | CA1194304 | ATP1A2 | c.889G>A (p.Ala297Thr) c.21G>A n.992G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.160127692G>C | CA343238010 | ATP1A2 | c.889G>C (p.Ala297Pro) c.21G>C n.992G>C | |
| 1 | g.160127692G= | CA1142491385 | ATP1A2 | c.889G= (p.Ala297=) c.21G= n.992G= | |
| 1 | g.160127692G>T | CA343238019 | ATP1A2 | c.889G>T (p.Ala297Ser) c.21G>T n.992G>T | |
| 1 | g.160127693C>A | CA343238022 | ATP1A2 | c.890C>A (p.Ala297Asp) c.22C>A n.993C>A | |
| 1 | g.160127693C>G | CA343238023 | ATP1A2 | c.890C>G (p.Ala297Gly) c.22C>G n.993C>G | |
| 1 | g.160127693C>T | CA343238024 | ATP1A2 | c.890C>T (p.Ala297Val) c.22C>T n.993C>T |