Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41985066A>CCA406052827ATP1A3c.884T>G (p.Ile295Ser)
c.845T>G (p.Ile282Ser)
n.158T>G
c.878T>G (p.Ile293Ser)
c.755T>G (p.Ile252Ser)
19g.41985066A>GCA406052829ATP1A3c.884T>C (p.Ile295Thr)
c.845T>C (p.Ile282Thr)
n.158T>C
c.878T>C (p.Ile293Thr)
c.755T>C (p.Ile252Thr)
19g.41985066A>TCA406052832ATP1A3c.884T>A (p.Ile295Asn)
c.845T>A (p.Ile282Asn)
n.158T>A
c.878T>A (p.Ile293Asn)
c.755T>A (p.Ile252Asn)
19g.41985067T>ACA406052841ATP1A3c.883A>T (p.Ile295Phe)
c.844A>T (p.Ile282Phe)
c.754A>T
n.157A>T
c.877A>T (p.Ile293Phe)
c.754A>T (p.Ile252Phe)
19g.41985067T>CCA406052842ATP1A3c.883A>G (p.Ile295Val)
c.844A>G (p.Ile282Val)
c.754A>G
n.157A>G
c.877A>G (p.Ile293Val)
c.754A>G (p.Ile252Val)
19g.41985067T>GCA406052843ATP1A3c.883A>C (p.Ile295Leu)
c.844A>C (p.Ile282Leu)
c.754A>C
n.157A>C
c.877A>C (p.Ile293Leu)
c.754A>C (p.Ile252Leu)
19g.41985068G>ACA507695474ATP1A3c.882C>T (p.Phe294=)
c.843C>T (p.Phe281=)
c.753C>T (p.Phe251=)
n.156C>T
c.876C>T (p.Phe292=)
COSMIC
19g.41985068G>CCA406052844ATP1A3c.882C>G (p.Phe294Leu)
c.843C>G (p.Phe281Leu)
c.753C>G (p.Phe251Leu)
n.156C>G
c.876C>G (p.Phe292Leu)
19g.41985068G>TCA406052845ATP1A3c.882C>A (p.Phe294Leu)
c.843C>A (p.Phe281Leu)
c.753C>A (p.Phe251Leu)
n.156C>A
c.876C>A (p.Phe292Leu)
19g.41985069A>CCA406052847ATP1A3c.881T>G (p.Phe294Cys)
c.842T>G (p.Phe281Cys)
c.752T>G (p.Phe251Cys)
n.155T>G
c.875T>G (p.Phe292Cys)
19g.41985069A>GCA406052849ATP1A3c.881T>C (p.Phe294Ser)
c.842T>C (p.Phe281Ser)
c.752T>C (p.Phe251Ser)
n.155T>C
c.875T>C (p.Phe292Ser)
19g.41985069A>TCA406052851ATP1A3c.881T>A (p.Phe294Tyr)
c.842T>A (p.Phe281Tyr)
c.752T>A (p.Phe251Tyr)
n.155T>A
c.875T>A (p.Phe292Tyr)
19g.41985070A>CCA406052852ATP1A3c.880T>G (p.Phe294Val)
c.841T>G (p.Phe281Val)
c.751T>G (p.Phe251Val)
n.154T>G
c.874T>G (p.Phe292Val)
ClinVar dbSNP
19g.41985070A>GCA406052854ATP1A3c.880T>C (p.Phe294Leu)
c.841T>C (p.Phe281Leu)
c.751T>C (p.Phe251Leu)
n.154T>C
c.874T>C (p.Phe292Leu)
19g.41985070A>TCA406052853ATP1A3c.880T>A (p.Phe294Ile)
c.841T>A (p.Phe281Ile)
c.751T>A (p.Phe251Ile)
n.154T>A
c.874T>A (p.Phe292Ile)
19g.41985071G>ACA507695476ATP1A3c.879C>T (p.His293=)
c.840C>T (p.His280=)
c.750C>T (p.His250=)
n.153C>T
c.873C>T (p.His291=)
19g.41985071G>CCA406052855ATP1A3c.879C>G (p.His293Gln)
c.840C>G (p.His280Gln)
c.750C>G (p.His250Gln)
n.153C>G
c.873C>G (p.His291Gln)
19g.41985071G>TCA406052857ATP1A3c.879C>A (p.His293Gln)
c.840C>A (p.His280Gln)
c.750C>A (p.His250Gln)
n.153C>A
c.873C>A (p.His291Gln)
gnomAD v4
19g.41985072T>ACA406052858ATP1A3c.878A>T (p.His293Leu)
c.839A>T (p.His280Leu)
c.749A>T (p.His250Leu)
n.152A>T
c.872A>T (p.His291Leu)
gnomAD v4
19g.41985072T>CCA406052859ATP1A3c.878A>G (p.His293Arg)
c.839A>G (p.His280Arg)
c.749A>G (p.His250Arg)
n.152A>G
c.872A>G (p.His291Arg)
19g.41985072T>GCA406052862ATP1A3c.878A>C (p.His293Pro)
c.839A>C (p.His280Pro)
c.749A>C (p.His250Pro)
n.152A>C
c.872A>C (p.His291Pro)
19g.41985073G>ACA406052863ATP1A3c.877C>T (p.His293Tyr)
c.838C>T (p.His280Tyr)
c.748C>T (p.His250Tyr)
n.151C>T
c.871C>T (p.His291Tyr)
ClinVar dbSNP gnomAD v4
19g.41985073G>CCA406052864ATP1A3c.877C>G (p.His293Asp)
c.838C>G (p.His280Asp)
c.748C>G (p.His250Asp)
n.151C>G
c.871C>G (p.His291Asp)
19g.41985073G=CA2336728019ATP1A3c.877C= (p.His293=)
c.838C= (p.His280=)
c.748C= (p.His250=)
n.151C=
c.871C= (p.His291=)
19g.41985073G>TCA406052866ATP1A3c.877C>A (p.His293Asn)
c.838C>A (p.His280Asn)
c.748C>A (p.His250Asn)
n.151C>A
c.871C>A (p.His291Asn)
19g.41985074C>ACA406052868ATP1A3c.876G>T (p.Glu292Asp)
c.837G>T (p.Glu279Asp)
c.747G>T (p.Glu249Asp)
n.150G>T
c.870G>T (p.Glu290Asp)
gnomAD v4
19g.41985074C>GCA406052869ATP1A3c.876G>C (p.Glu292Asp)
c.837G>C (p.Glu279Asp)
c.747G>C (p.Glu249Asp)
n.150G>C
c.870G>C (p.Glu290Asp)
19g.41985074C>TCA507695123ATP1A3c.876G>A (p.Glu292=)
c.837G>A (p.Glu279=)
c.747G>A (p.Glu249=)
n.150G>A
c.870G>A (p.Glu290=)
gnomAD v4
19g.41985075T>ACA406052874ATP1A3c.875A>T (p.Glu292Val)
c.836A>T (p.Glu279Val)
c.746A>T (p.Glu249Val)
n.149A>T
c.869A>T (p.Glu290Val)
19g.41985075T>CCA406052876ATP1A3c.875A>G (p.Glu292Gly)
c.836A>G (p.Glu279Gly)
c.746A>G (p.Glu249Gly)
n.149A>G
c.869A>G (p.Glu290Gly)
19g.41985075T>GCA406052872ATP1A3c.875A>C (p.Glu292Ala)
c.836A>C (p.Glu279Ala)
c.746A>C (p.Glu249Ala)
n.149A>C
c.869A>C (p.Glu290Ala)
19g.41985076C>ACA406052878ATP1A3c.874G>T (p.Glu292Ter)
c.835G>T (p.Glu279Ter)
c.745G>T (p.Glu249Ter)
n.148G>T
c.868G>T (p.Glu290Ter)
19g.41985076C=CA2336728020ATP1A3c.874G= (p.Glu292=)
c.835G= (p.Glu279=)
c.745G= (p.Glu249=)
n.148G=
c.868G= (p.Glu290=)
19g.41985076C>GCA406052880ATP1A3c.874G>C (p.Glu292Gln)
c.835G>C (p.Glu279Gln)
c.745G>C (p.Glu249Gln)
n.148G>C
c.868G>C (p.Glu290Gln)
19g.41985076C>TCA406052881ATP1A3c.874G>A (p.Glu292Lys)
c.835G>A (p.Glu279Lys)
c.745G>A (p.Glu249Lys)
n.148G>A
c.868G>A (p.Glu290Lys)
dbSNP gnomAD v3 gnomAD v4
19g.41985077A>CCA406052883ATP1A3c.873T>G (p.Ile291Met)
c.834T>G (p.Ile278Met)
c.744T>G (p.Ile248Met)
n.147T>G
c.867T>G (p.Ile289Met)
19g.41985077A>GCA507695128ATP1A3c.873T>C (p.Ile291=)
c.834T>C (p.Ile278=)
c.744T>C (p.Ile248=)
n.147T>C
c.867T>C (p.Ile289=)
ClinVar dbSNP
19g.41985077A>TCA507695129ATP1A3c.873T>A (p.Ile291=)
c.834T>A (p.Ile278=)
c.744T>A (p.Ile248=)
n.147T>A
c.867T>A (p.Ile289=)
19g.41985078A>CCA406052886ATP1A3c.872T>G (p.Ile291Ser)
c.833T>G (p.Ile278Ser)
c.743T>G (p.Ile248Ser)
n.146T>G
c.866T>G (p.Ile289Ser)
19g.41985078A>GCA406052888ATP1A3c.872T>C (p.Ile291Thr)
c.833T>C (p.Ile278Thr)
c.743T>C (p.Ile248Thr)
n.146T>C
c.866T>C (p.Ile289Thr)
19g.41985078A>TCA406052891ATP1A3c.872T>A (p.Ile291Asn)
c.833T>A (p.Ile278Asn)
c.743T>A (p.Ile248Asn)
n.146T>A
c.866T>A (p.Ile289Asn)
19g.41985079T>ACA406052894ATP1A3c.871A>T (p.Ile291Phe)
c.832A>T (p.Ile278Phe)
c.742A>T (p.Ile248Phe)
n.145A>T
c.865A>T (p.Ile289Phe)
19g.41985079T>CCA406052896ATP1A3c.871A>G (p.Ile291Val)
c.832A>G (p.Ile278Val)
c.742A>G (p.Ile248Val)
n.145A>G
c.865A>G (p.Ile289Val)
19g.41985079T>GCA406052898ATP1A3c.871A>C (p.Ile291Leu)
c.832A>C (p.Ile278Leu)
c.742A>C (p.Ile248Leu)
n.145A>C
c.865A>C (p.Ile289Leu)
19g.41985080C>ACA406052899ATP1A3c.870G>T (p.Glu290Asp)
c.831G>T (p.Glu277Asp)
c.741G>T (p.Glu247Asp)
n.144G>T
c.864G>T (p.Glu288Asp)
19g.41985080C>GCA406052901ATP1A3c.870G>C (p.Glu290Asp)
c.831G>C (p.Glu277Asp)
c.741G>C (p.Glu247Asp)
n.144G>C
c.864G>C (p.Glu288Asp)
19g.41985080C>TCA507695136ATP1A3c.870G>A (p.Glu290=)
c.831G>A (p.Glu277=)
c.741G>A (p.Glu247=)
n.144G>A
c.864G>A (p.Glu288=)
19g.41985081T>ACA406052906ATP1A3c.869A>T (p.Glu290Val)
c.830A>T (p.Glu277Val)
c.740A>T (p.Glu247Val)
n.143A>T
c.863A>T (p.Glu288Val)
19g.41985081T>CCA406052911ATP1A3c.869A>G (p.Glu290Gly)
c.830A>G (p.Glu277Gly)
c.740A>G (p.Glu247Gly)
n.143A>G
c.863A>G (p.Glu288Gly)
19g.41985081T>GCA406052903ATP1A3c.869A>C (p.Glu290Ala)
c.830A>C (p.Glu277Ala)
c.740A>C (p.Glu247Ala)
n.143A>C
c.863A>C (p.Glu288Ala)
19g.41985082C>ACA406052914ATP1A3c.868G>T (p.Glu290Ter)
c.829G>T (p.Glu277Ter)
c.739G>T (p.Glu247Ter)
n.142G>T
c.862G>T (p.Glu288Ter)
19g.41985082C=CA2336728021ATP1A3c.868G= (p.Glu290=)
c.829G= (p.Glu277=)
c.739G= (p.Glu247=)
n.142G=
c.862G= (p.Glu288=)
19g.41985082C>GCA406052917ATP1A3c.868G>C (p.Glu290Gln)
c.829G>C (p.Glu277Gln)
c.739G>C (p.Glu247Gln)
n.142G>C
c.862G>C (p.Glu288Gln)
19g.41985082C>TCA341235ATP1A3c.868G>A (p.Glu290Lys)
c.829G>A (p.Glu277Lys)
c.739G>A (p.Glu247Lys)
n.142G>A
c.862G>A (p.Glu288Lys)
ClinVar dbSNP COSMIC
19g.41985083G>ACA9467772ATP1A3c.867C>T (p.Ile289=)
c.828C>T (p.Ile276=)
c.738C>T (p.Ile246=)
n.141C>T
c.861C>T (p.Ile287=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985083G>CCA406052920ATP1A3c.867C>G (p.Ile289Met)
c.828C>G (p.Ile276Met)
c.738C>G (p.Ile246Met)
n.141C>G
c.861C>G (p.Ile287Met)
dbSNP gnomAD v4
19g.41985083G=CA2336728022ATP1A3c.867C= (p.Ile289=)
c.828C= (p.Ile276=)
c.738C= (p.Ile246=)
n.141C=
c.861C= (p.Ile287=)
19g.41985083G>TCA507695138ATP1A3c.867C>A (p.Ile289=)
c.828C>A (p.Ile276=)
c.738C>A (p.Ile246=)
n.141C>A
c.861C>A (p.Ile287=)
19g.41985084A>CCA406052931ATP1A3c.866T>G (p.Ile289Ser)
c.827T>G (p.Ile276Ser)
c.737T>G (p.Ile246Ser)
n.140T>G
c.860T>G (p.Ile287Ser)
19g.41985084A>GCA406052927ATP1A3c.866T>C (p.Ile289Thr)
c.827T>C (p.Ile276Thr)
c.737T>C (p.Ile246Thr)
n.140T>C
c.860T>C (p.Ile287Thr)
19g.41985084A>TCA406052929ATP1A3c.866T>A (p.Ile289Asn)
c.827T>A (p.Ile276Asn)
c.737T>A (p.Ile246Asn)
n.140T>A
c.860T>A (p.Ile287Asn)
19g.41985085T>ACA406052933ATP1A3c.865A>T (p.Ile289Phe)
c.826A>T (p.Ile276Phe)
c.736A>T (p.Ile246Phe)
n.139A>T
c.859A>T (p.Ile287Phe)
19g.41985085T>CCA406052935ATP1A3c.865A>G (p.Ile289Val)
c.826A>G (p.Ile276Val)
c.736A>G (p.Ile246Val)
n.139A>G
c.859A>G (p.Ile287Val)
19g.41985085T>GCA406052937ATP1A3c.865A>C (p.Ile289Leu)
c.826A>C (p.Ile276Leu)
c.736A>C (p.Ile246Leu)
n.139A>C
c.859A>C (p.Ile287Leu)
19g.41985086G>ACA507695142ATP1A3c.864C>T (p.Ala288=)
c.825C>T (p.Ala275=)
c.735C>T (p.Ala245=)
n.138C>T
c.858C>T (p.Ala286=)
19g.41985086G>CCA507695143ATP1A3c.864C>G (p.Ala288=)
c.825C>G (p.Ala275=)
c.735C>G (p.Ala245=)
n.138C>G
c.858C>G (p.Ala286=)
19g.41985086G>TCA507695144ATP1A3c.864C>A (p.Ala288=)
c.825C>A (p.Ala275=)
c.735C>A (p.Ala245=)
n.138C>A
c.858C>A (p.Ala286=)
19g.41985087G>ACA406052940ATP1A3c.863C>T (p.Ala288Val)
c.824C>T (p.Ala275Val)
c.734C>T (p.Ala245Val)
n.137C>T
c.857C>T (p.Ala286Val)
19g.41985087G>CCA406052946ATP1A3c.863C>G (p.Ala288Gly)
c.824C>G (p.Ala275Gly)
c.734C>G (p.Ala245Gly)
n.137C>G
c.857C>G (p.Ala286Gly)
19g.41985087G>TCA406052948ATP1A3c.863C>A (p.Ala288Asp)
c.824C>A (p.Ala275Asp)
c.734C>A (p.Ala245Asp)
n.137C>A
c.857C>A (p.Ala286Asp)
19g.41985088C>ACA406052954ATP1A3c.862G>T (p.Ala288Ser)
c.823G>T (p.Ala275Ser)
c.733G>T (p.Ala245Ser)
n.136G>T
c.856G>T (p.Ala286Ser)
19g.41985088C=CA2336728023ATP1A3c.862G= (p.Ala288=)
c.823G= (p.Ala275=)
c.733G= (p.Ala245=)
n.136G=
c.856G= (p.Ala286=)
19g.41985088C>GCA406052956ATP1A3c.862G>C (p.Ala288Pro)
c.823G>C (p.Ala275Pro)
c.733G>C (p.Ala245Pro)
n.136G>C
c.856G>C (p.Ala286Pro)
19g.41985088C>TCA406052951ATP1A3c.862G>A (p.Ala288Thr)
c.823G>A (p.Ala275Thr)
c.733G>A (p.Ala245Thr)
n.136G>A
c.856G>A (p.Ala286Thr)
dbSNP COSMIC
19g.41985089G>ACA9467773ATP1A3c.861C>T (p.Ile287=)
c.822C>T (p.Ile274=)
c.732C>T (p.Ile244=)
n.135C>T
c.855C>T (p.Ile285=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985089G>CCA406052959ATP1A3c.861C>G (p.Ile287Met)
c.822C>G (p.Ile274Met)
c.732C>G (p.Ile244Met)
n.135C>G
c.855C>G (p.Ile285Met)
19g.41985089G=CA2336728024ATP1A3c.861C= (p.Ile287=)
c.822C= (p.Ile274=)
c.732C= (p.Ile244=)
n.135C=
c.855C= (p.Ile285=)
19g.41985089G>TCA507695149ATP1A3c.861C>A (p.Ile287=)
c.822C>A (p.Ile274=)
c.732C>A (p.Ile244=)
n.135C>A
c.855C>A (p.Ile285=)
gnomAD v4
19g.41985090A=CA2336728025ATP1A3c.860T= (p.Ile287=)
c.821T= (p.Ile274=)
c.731T= (p.Ile244=)
n.134T=
c.854T= (p.Ile285=)
19g.41985090A>CCA406052965ATP1A3c.860T>G (p.Ile287Ser)
c.821T>G (p.Ile274Ser)
c.731T>G (p.Ile244Ser)
n.134T>G
c.854T>G (p.Ile285Ser)
19g.41985090A>GCA341234ATP1A3c.860T>C (p.Ile287Thr)
c.821T>C (p.Ile274Thr)
c.731T>C (p.Ile244Thr)
n.134T>C
c.854T>C (p.Ile285Thr)
ClinVar dbSNP
19g.41985090A>TCA346000ATP1A3c.860T>A (p.Ile287Asn)
c.821T>A (p.Ile274Asn)
c.731T>A (p.Ile244Asn)
n.134T>A
c.854T>A (p.Ile285Asn)
ClinVar dbSNP gnomAD v4
19g.41985091T>ACA406052972ATP1A3c.859A>T (p.Ile287Phe)
c.820A>T (p.Ile274Phe)
c.730A>T (p.Ile244Phe)
n.133A>T
c.853A>T (p.Ile285Phe)
ClinVar
19g.41985091T>CCA406052974ATP1A3c.859A>G (p.Ile287Val)
c.820A>G (p.Ile274Val)
c.730A>G (p.Ile244Val)
n.133A>G
c.853A>G (p.Ile285Val)
dbSNP
19g.41985091T>GCA406052976ATP1A3c.859A>C (p.Ile287Leu)
c.820A>C (p.Ile274Leu)
c.730A>C (p.Ile244Leu)
n.133A>C
c.853A>C (p.Ile285Leu)
19g.41985091T=CA2336728026ATP1A3c.859A= (p.Ile287=)
c.820A= (p.Ile274=)
c.730A= (p.Ile244=)
n.133A=
c.853A= (p.Ile285=)
19g.41985092G>ACA507695153ATP1A3c.858C>T (p.Pro286=)
c.819C>T (p.Pro273=)
c.729C>T (p.Pro243=)
n.132C>T
c.852C>T (p.Pro284=)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.41985092G>CCA507695154ATP1A3c.858C>G (p.Pro286=)
c.819C>G (p.Pro273=)
c.729C>G (p.Pro243=)
n.132C>G
c.852C>G (p.Pro284=)
19g.41985092G=CA2336728027ATP1A3c.858C= (p.Pro286=)
c.819C= (p.Pro273=)
c.729C= (p.Pro243=)
n.132C=
c.852C= (p.Pro284=)
19g.41985092G>TCA9467774ATP1A3c.858C>A (p.Pro286=)
c.819C>A (p.Pro273=)
c.729C>A (p.Pro243=)
n.132C>A
c.852C>A (p.Pro284=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41985093G>ACA406052980ATP1A3c.857C>T (p.Pro286Leu)
c.818C>T (p.Pro273Leu)
c.728C>T (p.Pro243Leu)
n.131C>T
c.851C>T (p.Pro284Leu)
19g.41985093G>CCA406052985ATP1A3c.857C>G (p.Pro286Arg)
c.818C>G (p.Pro273Arg)
c.728C>G (p.Pro243Arg)
n.131C>G
c.851C>G (p.Pro284Arg)
19g.41985093G>TCA406052982ATP1A3c.857C>A (p.Pro286His)
c.818C>A (p.Pro273His)
c.728C>A (p.Pro243His)
n.131C>A
c.851C>A (p.Pro284His)
19g.41985094G>ACA406052987ATP1A3c.856C>T (p.Pro286Ser)
c.817C>T (p.Pro273Ser)
c.727C>T (p.Pro243Ser)
n.130C>T
c.850C>T (p.Pro284Ser)
19g.41985094G>CCA406052990ATP1A3c.856C>G (p.Pro286Ala)
c.817C>G (p.Pro273Ala)
c.727C>G (p.Pro243Ala)
n.130C>G
c.850C>G (p.Pro284Ala)
19g.41985094G>TCA406052992ATP1A3c.856C>A (p.Pro286Thr)
c.817C>A (p.Pro273Thr)
c.727C>A (p.Pro243Thr)
n.130C>A
c.850C>A (p.Pro284Thr)
19g.41985095C>ACA507695159ATP1A3c.855G>T (p.Thr285=)
c.816G>T (p.Thr272=)
c.726G>T (p.Thr242=)
n.129G>T
c.849G>T (p.Thr283=)
19g.41985095C=CA2336728028ATP1A3c.855G= (p.Thr285=)
c.816G= (p.Thr272=)
c.726G= (p.Thr242=)
n.129G=
c.849G= (p.Thr283=)
19g.41985095C>GCA507695158ATP1A3c.855G>C (p.Thr285=)
c.816G>C (p.Thr272=)
c.726G>C (p.Thr242=)
n.129G>C
c.849G>C (p.Thr283=)
19g.41985095C>TCA9467775ATP1A3c.855G>A (p.Thr285=)
c.816G>A (p.Thr272=)
c.726G>A (p.Thr242=)
n.129G>A
c.849G>A (p.Thr283=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985096G>ACA406052996ATP1A3c.854C>T (p.Thr285Met)
c.815C>T (p.Thr272Met)
c.725C>T (p.Thr242Met)
n.128C>T
c.848C>T (p.Thr283Met)
COSMIC
19g.41985096G>CCA406053001ATP1A3c.854C>G (p.Thr285Arg)
c.815C>G (p.Thr272Arg)
c.725C>G (p.Thr242Arg)
n.128C>G
c.848C>G (p.Thr283Arg)
gnomAD v4
19g.41985096G>TCA406052999ATP1A3c.854C>A (p.Thr285Lys)
c.815C>A (p.Thr272Lys)
c.725C>A (p.Thr242Lys)
n.128C>A
c.848C>A (p.Thr283Lys)
19g.41985097T>ACA406053004ATP1A3c.853A>T (p.Thr285Ser)
c.814A>T (p.Thr272Ser)
c.724A>T (p.Thr242Ser)
n.127A>T
c.847A>T (p.Thr283Ser)
19g.41985097T>CCA406053006ATP1A3c.853A>G (p.Thr285Ala)
c.814A>G (p.Thr272Ala)
c.724A>G (p.Thr242Ala)
n.127A>G
c.847A>G (p.Thr283Ala)
gnomAD v4
19g.41985097T>GCA406053009ATP1A3c.853A>C (p.Thr285Pro)
c.814A>C (p.Thr272Pro)
c.724A>C (p.Thr242Pro)
n.127A>C
c.847A>C (p.Thr283Pro)
19g.41985098C>ACA406053011ATP1A3c.852G>T (p.Lys284Asn)
c.813G>T (p.Lys271Asn)
c.723G>T (p.Lys241Asn)
n.126G>T
c.846G>T (p.Lys282Asn)
19g.41985098C>GCA406053014ATP1A3c.852G>C (p.Lys284Asn)
c.813G>C (p.Lys271Asn)
c.723G>C (p.Lys241Asn)
n.126G>C
c.846G>C (p.Lys282Asn)
19g.41985098C>TCA507695164ATP1A3c.852G>A (p.Lys284=)
c.813G>A (p.Lys271=)
c.723G>A (p.Lys241=)
n.126G>A
c.846G>A (p.Lys282=)
19g.41985099T>ACA406053016ATP1A3c.851A>T (p.Lys284Met)
c.812A>T (p.Lys271Met)
c.722A>T (p.Lys241Met)
n.125A>T
c.845A>T (p.Lys282Met)
19g.41985099T>CCA406053025ATP1A3c.851A>G (p.Lys284Arg)
c.812A>G (p.Lys271Arg)
c.722A>G (p.Lys241Arg)
n.125A>G
c.845A>G (p.Lys282Arg)
19g.41985099T>GCA406053027ATP1A3c.851A>C (p.Lys284Thr)
c.812A>C (p.Lys271Thr)
c.722A>C (p.Lys241Thr)
n.125A>C
c.845A>C (p.Lys282Thr)
19g.41985100T>ACA406053029ATP1A3c.850A>T (p.Lys284Ter)
c.811A>T (p.Lys271Ter)
c.721A>T (p.Lys241Ter)
n.124A>T
c.844A>T (p.Lys282Ter)
19g.41985100T>CCA406053030ATP1A3c.850A>G (p.Lys284Glu)
c.811A>G (p.Lys271Glu)
c.721A>G (p.Lys241Glu)
n.124A>G
c.844A>G (p.Lys282Glu)
dbSNP
19g.41985100T>GCA406053032ATP1A3c.850A>C (p.Lys284Gln)
c.811A>C (p.Lys271Gln)
c.721A>C (p.Lys241Gln)
n.124A>C
c.844A>C (p.Lys282Gln)
19g.41985100T=CA2336728029ATP1A3c.850A= (p.Lys284=)
c.811A= (p.Lys271=)
c.721A= (p.Lys241=)
n.124A=
c.844A= (p.Lys282=)
19g.41985101G>ACA507695169ATP1A3c.849C>T (p.Gly283=)
c.810C>T (p.Gly270=)
c.720C>T (p.Gly240=)
n.123C>T
c.843C>T (p.Gly281=)
19g.41985101G>CCA507695171ATP1A3c.849C>G (p.Gly283=)
c.810C>G (p.Gly270=)
c.720C>G (p.Gly240=)
n.123C>G
c.843C>G (p.Gly281=)
gnomAD v4
19g.41985101G=CA2336728030ATP1A3c.849C= (p.Gly283=)
c.810C= (p.Gly270=)
c.720C= (p.Gly240=)
n.123C=
c.843C= (p.Gly281=)
19g.41985101G>TCA507695170ATP1A3c.849C>A (p.Gly283=)
c.810C>A (p.Gly270=)
c.720C>A (p.Gly240=)
n.123C>A
c.843C>A (p.Gly281=)
dbSNP
19g.41985102C>ACA406053041ATP1A3c.848G>T (p.Gly283Val)
c.809G>T (p.Gly270Val)
c.719G>T (p.Gly240Val)
n.122G>T
c.842G>T (p.Gly281Val)
19g.41985102C=CA2336728031ATP1A3c.848G= (p.Gly283=)
c.809G= (p.Gly270=)
c.719G= (p.Gly240=)
n.122G=
c.842G= (p.Gly281=)
19g.41985102C>GCA406053038ATP1A3c.848G>C (p.Gly283Ala)
c.809G>C (p.Gly270Ala)
c.719G>C (p.Gly240Ala)
n.122G>C
c.842G>C (p.Gly281Ala)
19g.41985102C>TCA406053036ATP1A3c.848G>A (p.Gly283Asp)
c.809G>A (p.Gly270Asp)
c.719G>A (p.Gly240Asp)
n.122G>A
c.842G>A (p.Gly281Asp)
ClinVar dbSNP gnomAD v2
19g.41985103C>ACA406053044ATP1A3c.847G>T (p.Gly283Cys)
c.808G>T (p.Gly270Cys)
c.718G>T (p.Gly240Cys)
n.121G>T
c.841G>T (p.Gly281Cys)
19g.41985103C>GCA406053046ATP1A3c.847G>C (p.Gly283Arg)
c.808G>C (p.Gly270Arg)
c.718G>C (p.Gly240Arg)
n.121G>C
c.841G>C (p.Gly281Arg)
19g.41985103C>TCA406053049ATP1A3c.847G>A (p.Gly283Ser)
c.808G>A (p.Gly270Ser)
c.718G>A (p.Gly240Ser)
n.121G>A
c.841G>A (p.Gly281Ser)
ClinVar
19g.41985104C>ACA507695175ATP1A3c.846G>T (p.Val282=)
c.807G>T (p.Val269=)
c.717G>T (p.Val239=)
n.120G>T
c.840G>T (p.Val280=)
19g.41985104C>GCA507695176ATP1A3c.846G>C (p.Val282=)
c.807G>C (p.Val269=)
c.717G>C (p.Val239=)
n.120G>C
c.840G>C (p.Val280=)
19g.41985104C>TCA507695178ATP1A3c.846G>A (p.Val282=)
c.807G>A (p.Val269=)
c.717G>A (p.Val239=)
n.120G>A
c.840G>A (p.Val280=)
19g.41985105A=CA2336728032ATP1A3c.845T= (p.Val282=)
c.806T= (p.Val269=)
c.716T= (p.Val239=)
n.119T=
c.839T= (p.Val280=)
19g.41985105A>CCA406053052ATP1A3c.845T>G (p.Val282Gly)
c.806T>G (p.Val269Gly)
c.716T>G (p.Val239Gly)
n.119T>G
c.839T>G (p.Val280Gly)
dbSNP
19g.41985105A>GCA406053053ATP1A3c.845T>C (p.Val282Ala)
c.806T>C (p.Val269Ala)
c.716T>C (p.Val239Ala)
n.119T>C
c.839T>C (p.Val280Ala)
19g.41985105A>TCA406053055ATP1A3c.845T>A (p.Val282Glu)
c.806T>A (p.Val269Glu)
c.716T>A (p.Val239Glu)
n.119T>A
c.839T>A (p.Val280Glu)
19g.41985106C>ACA406053062ATP1A3c.844G>T (p.Val282Leu)
c.805G>T (p.Val269Leu)
c.715G>T (p.Val239Leu)
n.118G>T
c.838G>T (p.Val280Leu)
19g.41985106C=CA2336728033ATP1A3c.844G= (p.Val282=)
c.805G= (p.Val269=)
c.715G= (p.Val239=)
n.118G=
c.838G= (p.Val280=)
19g.41985106C>GCA406053061ATP1A3c.844G>C (p.Val282Leu)
c.805G>C (p.Val269Leu)
c.715G>C (p.Val239Leu)
n.118G>C
c.838G>C (p.Val280Leu)
19g.41985106C>TCA9467776ATP1A3c.844G>A (p.Val282Met)
c.805G>A (p.Val269Met)
c.715G>A (p.Val239Met)
n.118G>A
c.838G>A (p.Val280Met)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.41985107C>ACA406053066ATP1A3c.843G>T (p.Glu281Asp)
c.804G>T (p.Glu268Asp)
c.714G>T (p.Glu238Asp)
n.117G>T
c.837G>T (p.Glu279Asp)
19g.41985107C=CA2336728034ATP1A3c.843G= (p.Glu281=)
c.804G= (p.Glu268=)
c.714G= (p.Glu238=)
n.117G=
c.837G= (p.Glu279=)
19g.41985107C>GCA406053068ATP1A3c.843G>C (p.Glu281Asp)
c.804G>C (p.Glu268Asp)
c.714G>C (p.Glu238Asp)
n.117G>C
c.837G>C (p.Glu279Asp)
19g.41985107C>TCA9467777ATP1A3c.843G>A (p.Glu281=)
c.804G>A (p.Glu268=)
c.714G>A (p.Glu238=)
n.117G>A
c.837G>A (p.Glu279=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985108T>ACA406053071ATP1A3c.842A>T (p.Glu281Val)
c.803A>T (p.Glu268Val)
c.713A>T (p.Glu238Val)
n.116A>T
c.836A>T (p.Glu279Val)
19g.41985108T>CCA406053074ATP1A3c.842A>G (p.Glu281Gly)
c.803A>G (p.Glu268Gly)
c.713A>G (p.Glu238Gly)
n.116A>G
c.836A>G (p.Glu279Gly)
19g.41985108T>GCA406053076ATP1A3c.842A>C (p.Glu281Ala)
c.803A>C (p.Glu268Ala)
c.713A>C (p.Glu238Ala)
n.116A>C
c.836A>C (p.Glu279Ala)
19g.41985109C>ACA406053078ATP1A3c.841G>T (p.Glu281Ter)
c.802G>T (p.Glu268Ter)
c.712G>T (p.Glu238Ter)
n.115G>T
c.835G>T (p.Glu279Ter)
COSMIC
19g.41985109C>GCA406053085ATP1A3c.841G>C (p.Glu281Gln)
c.802G>C (p.Glu268Gln)
c.712G>C (p.Glu238Gln)
n.115G>C
c.835G>C (p.Glu279Gln)
19g.41985109C>TCA406053082ATP1A3c.841G>A (p.Glu281Lys)
c.802G>A (p.Glu268Lys)
c.712G>A (p.Glu238Lys)
n.115G>A
c.835G>A (p.Glu279Lys)
19g.41985110C>ACA507695182ATP1A3c.840G>T (p.Leu280=)
c.801G>T (p.Leu267=)
c.711G>T (p.Leu237=)
n.114G>T
c.834G>T (p.Leu278=)
19g.41985110C>GCA507695183ATP1A3c.840G>C (p.Leu280=)
c.801G>C (p.Leu267=)
c.711G>C (p.Leu237=)
n.114G>C
c.834G>C (p.Leu278=)
19g.41985110C>TCA507695184ATP1A3c.840G>A (p.Leu280=)
c.801G>A (p.Leu267=)
c.711G>A (p.Leu237=)
n.114G>A
c.834G>A (p.Leu278=)
19g.41985111A>CCA406053088ATP1A3c.839T>G (p.Leu280Arg)
c.800T>G (p.Leu267Arg)
c.710T>G (p.Leu237Arg)
n.113T>G
c.833T>G (p.Leu278Arg)
19g.41985111A>GCA406053090ATP1A3c.839T>C (p.Leu280Pro)
c.800T>C (p.Leu267Pro)
c.710T>C (p.Leu237Pro)
n.113T>C
c.833T>C (p.Leu278Pro)
19g.41985111A>TCA406053093ATP1A3c.839T>A (p.Leu280Gln)
c.800T>A (p.Leu267Gln)
c.710T>A (p.Leu237Gln)
n.113T>A
c.833T>A (p.Leu278Gln)
19g.41985111dupCA2814451412ATP1A3c.839dup (p.Glu281GlyfsTer12)
c.800dup (p.Glu268GlyfsTer12)
c.710dup (p.Glu238GlyfsTer12)
n.113dup
c.833dup (p.Glu279GlyfsTer12)
19g.41985112G>ACA507695185ATP1A3c.838C>T (p.Leu280=)
c.799C>T (p.Leu267=)
c.709C>T (p.Leu237=)
n.112C>T
c.832C>T (p.Leu278=)
19g.41985112G>CCA406053094ATP1A3c.838C>G (p.Leu280Val)
c.799C>G (p.Leu267Val)
c.709C>G (p.Leu237Val)
n.112C>G
c.832C>G (p.Leu278Val)
19g.41985112G>TCA406053096ATP1A3c.838C>A (p.Leu280Met)
c.799C>A (p.Leu267Met)
c.709C>A (p.Leu237Met)
n.112C>A
c.832C>A (p.Leu278Met)
19g.41985113C>ACA507695186ATP1A3c.837G>T (p.Gly279=)
c.798G>T (p.Gly266=)
c.708G>T (p.Gly236=)
n.111G>T
c.831G>T (p.Gly277=)
gnomAD v4
19g.41985113C>GCA507695187ATP1A3c.837G>C (p.Gly279=)
c.798G>C (p.Gly266=)
c.708G>C (p.Gly236=)
n.111G>C
c.831G>C (p.Gly277=)
gnomAD v4
19g.41985113C>TCA507695188ATP1A3c.837G>A (p.Gly279=)
c.798G>A (p.Gly266=)
c.708G>A (p.Gly236=)
n.111G>A
c.831G>A (p.Gly277=)
ClinVar dbSNP
19g.41985114C>ACA406053099ATP1A3c.836G>T (p.Gly279Val)
c.797G>T (p.Gly266Val)
c.707G>T (p.Gly236Val)
n.110G>T
c.830G>T (p.Gly277Val)
ClinVar
19g.41985114C>GCA406053101ATP1A3c.836G>C (p.Gly279Ala)
c.797G>C (p.Gly266Ala)
c.707G>C (p.Gly236Ala)
n.110G>C
c.830G>C (p.Gly277Ala)
19g.41985114C>TCA406053104ATP1A3c.836G>A (p.Gly279Glu)
c.797G>A (p.Gly266Glu)
c.707G>A (p.Gly236Glu)
n.110G>A
c.830G>A (p.Gly277Glu)
19g.41985115C>ACA406053107ATP1A3c.835G>T (p.Gly279Trp)
c.796G>T (p.Gly266Trp)
c.706G>T (p.Gly236Trp)
n.109G>T
c.829G>T (p.Gly277Trp)
19g.41985115C=CA2336728035ATP1A3c.835G= (p.Gly279=)
c.796G= (p.Gly266=)
c.706G= (p.Gly236=)
n.109G=
c.829G= (p.Gly277=)
19g.41985115C>GCA406053108ATP1A3c.835G>C (p.Gly279Arg)
c.796G>C (p.Gly266Arg)
c.706G>C (p.Gly236Arg)
n.109G>C
c.829G>C (p.Gly277Arg)
dbSNP gnomAD v3 gnomAD v4
19g.41985115C>TCA406053111ATP1A3c.835G>A (p.Gly279Arg)
c.796G>A (p.Gly266Arg)
c.706G>A (p.Gly236Arg)
n.109G>A
c.829G>A (p.Gly277Arg)
19g.41985116delCA2814451413ATP1A3c.834del (p.Leu280TrpfsTer?)
c.795del (p.Leu267TrpfsTer?)
c.705del (p.Leu237TrpfsTer?)
n.108del
c.828del (p.Leu278TrpfsTer?)
19g.41985116T>ACA507695191ATP1A3c.834A>T (p.Ser278=)
c.795A>T (p.Ser265=)
c.705A>T (p.Ser235=)
n.108A>T
c.828A>T (p.Ser276=)
19g.41985116T>CCA507695189ATP1A3c.834A>G (p.Ser278=)
c.795A>G (p.Ser265=)
c.705A>G (p.Ser235=)
n.108A>G
c.828A>G (p.Ser276=)
19g.41985116T>GCA507695190ATP1A3c.834A>C (p.Ser278=)
c.795A>C (p.Ser265=)
c.705A>C (p.Ser235=)
n.108A>C
c.828A>C (p.Ser276=)
19g.41985117G>ACA406053121ATP1A3c.833C>T (p.Ser278Leu)
c.794C>T (p.Ser265Leu)
c.704C>T (p.Ser235Leu)
n.107C>T
c.827C>T (p.Ser276Leu)
19g.41985117G>CCA406053118ATP1A3c.833C>G (p.Ser278Ter)
c.794C>G (p.Ser265Ter)
c.704C>G (p.Ser235Ter)
n.107C>G
c.827C>G (p.Ser276Ter)
19g.41985117G>TCA406053115ATP1A3c.833C>A (p.Ser278Ter)
c.794C>A (p.Ser265Ter)
c.704C>A (p.Ser235Ter)
n.107C>A
c.827C>A (p.Ser276Ter)
19g.41985118A>CCA406053124ATP1A3c.832T>G (p.Ser278Ala)
c.793T>G (p.Ser265Ala)
c.703T>G (p.Ser235Ala)
n.106T>G
c.826T>G (p.Ser276Ala)
19g.41985118A>GCA406053128ATP1A3c.832T>C (p.Ser278Pro)
c.793T>C (p.Ser265Pro)
c.703T>C (p.Ser235Pro)
n.106T>C
c.826T>C (p.Ser276Pro)
19g.41985118A>TCA406053126ATP1A3c.832T>A (p.Ser278Thr)
c.793T>A (p.Ser265Thr)
c.703T>A (p.Ser235Thr)
n.106T>A
c.826T>A (p.Ser276Thr)
ClinVar
19g.41985119T>ACA507695192ATP1A3c.831A>T (p.Ala277=)
c.792A>T (p.Ala264=)
c.702A>T (p.Ala234=)
n.105A>T
c.825A>T (p.Ala275=)
dbSNP gnomAD v2 gnomAD v4
19g.41985119T>CCA507695193ATP1A3c.831A>G (p.Ala277=)
c.792A>G (p.Ala264=)
c.702A>G (p.Ala234=)
n.105A>G
c.825A>G (p.Ala275=)
19g.41985119T>GCA507695194ATP1A3c.831A>C (p.Ala277=)
c.792A>C (p.Ala264=)
c.702A>C (p.Ala234=)
n.105A>C
c.825A>C (p.Ala275=)
19g.41985119T=CA2336728036ATP1A3c.831A= (p.Ala277=)
c.792A= (p.Ala264=)
c.702A= (p.Ala234=)
n.105A=
c.825A= (p.Ala275=)
19g.41985120G>ACA406053131ATP1A3c.830C>T (p.Ala277Val)
c.791C>T (p.Ala264Val)
c.701C>T (p.Ala234Val)
n.104C>T
c.824C>T (p.Ala275Val)
19g.41985120G>CCA406053135ATP1A3c.830C>G (p.Ala277Gly)
c.791C>G (p.Ala264Gly)
c.701C>G (p.Ala234Gly)
n.104C>G
c.824C>G (p.Ala275Gly)
19g.41985120G>TCA406053133ATP1A3c.830C>A (p.Ala277Glu)
c.791C>A (p.Ala264Glu)
c.701C>A (p.Ala234Glu)
n.104C>A
c.824C>A (p.Ala275Glu)
19g.41985121C>ACA406053136ATP1A3c.829G>T (p.Ala277Ser)
c.790G>T (p.Ala264Ser)
c.700G>T (p.Ala234Ser)
n.103G>T
c.823G>T (p.Ala275Ser)
19g.41985121C>GCA406053139ATP1A3c.829G>C (p.Ala277Pro)
c.790G>C (p.Ala264Pro)
c.700G>C (p.Ala234Pro)
n.103G>C
c.823G>C (p.Ala275Pro)
19g.41985121C>TCA406053137ATP1A3c.829G>A (p.Ala277Thr)
c.790G>A (p.Ala264Thr)
c.700G>A (p.Ala234Thr)
n.103G>A
c.823G>A (p.Ala275Thr)
gnomAD v4
19g.41985122C>ACA507695195ATP1A3c.828G>T (p.Leu276=)
c.789G>T (p.Leu263=)
c.699G>T (p.Leu233=)
n.102G>T
c.822G>T (p.Leu274=)
19g.41985122C=CA2336728037ATP1A3c.828G= (p.Leu276=)
c.789G= (p.Leu263=)
c.699G= (p.Leu233=)
n.102G=
c.822G= (p.Leu274=)
19g.41985122C>GCA507695196ATP1A3c.828G>C (p.Leu276=)
c.789G>C (p.Leu263=)
c.699G>C (p.Leu233=)
n.102G>C
c.822G>C (p.Leu274=)
19g.41985122C>TCA308597284ATP1A3c.828G>A (p.Leu276=)
c.789G>A (p.Leu263=)
c.699G>A (p.Leu233=)
n.102G>A
c.822G>A (p.Leu274=)
dbSNP
19g.41985123A=CA2336728038ATP1A3c.827T= (p.Leu276=)
c.788T= (p.Leu263=)
c.698T= (p.Leu233=)
n.101T=
c.821T= (p.Leu274=)
19g.41985123A>CCA406053145ATP1A3c.827T>G (p.Leu276Arg)
c.788T>G (p.Leu263Arg)
c.698T>G (p.Leu233Arg)
n.101T>G
c.821T>G (p.Leu274Arg)
19g.41985123A>GCA406053142ATP1A3c.827T>C (p.Leu276Pro)
c.788T>C (p.Leu263Pro)
c.698T>C (p.Leu233Pro)
n.101T>C
c.821T>C (p.Leu274Pro)
dbSNP
19g.41985123A>TCA406053144ATP1A3c.827T>A (p.Leu276Gln)
c.788T>A (p.Leu263Gln)
c.698T>A (p.Leu233Gln)
n.101T>A
c.821T>A (p.Leu274Gln)
19g.41985124G>ACA507695197ATP1A3c.826C>T (p.Leu276=)
c.787C>T (p.Leu263=)
c.697C>T (p.Leu233=)
n.100C>T
c.820C>T (p.Leu274=)
19g.41985124G>CCA406053147ATP1A3c.826C>G (p.Leu276Val)
c.787C>G (p.Leu263Val)
c.697C>G (p.Leu233Val)
n.100C>G
c.820C>G (p.Leu274Val)
19g.41985124G>TCA406053149ATP1A3c.826C>A (p.Leu276Met)
c.787C>A (p.Leu263Met)
c.697C>A (p.Leu233Met)
n.100C>A
c.820C>A (p.Leu274Met)
19g.41985125G>ACA9467778ATP1A3c.825C>T (p.Thr275=)
c.786C>T (p.Thr262=)
c.696C>T (p.Thr232=)
n.99C>T
c.819C>T (p.Thr273=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985125G>CCA507695198ATP1A3c.825C>G (p.Thr275=)
c.786C>G (p.Thr262=)
c.696C>G (p.Thr232=)
n.99C>G
c.819C>G (p.Thr273=)
19g.41985125G=CA2336728039ATP1A3c.825C= (p.Thr275=)
c.786C= (p.Thr262=)
c.696C= (p.Thr232=)
n.99C=
c.819C= (p.Thr273=)
19g.41985125G>TCA507695199ATP1A3c.825C>A (p.Thr275=)
c.786C>A (p.Thr262=)
c.696C>A (p.Thr232=)
n.99C>A
c.819C>A (p.Thr273=)
19g.41985126G>ACA406053155ATP1A3c.824C>T (p.Thr275Ile)
c.785C>T (p.Thr262Ile)
c.695C>T (p.Thr232Ile)
n.98C>T
c.818C>T (p.Thr273Ile)
19g.41985126G>CCA406053153ATP1A3c.824C>G (p.Thr275Ser)
c.785C>G (p.Thr262Ser)
c.695C>G (p.Thr232Ser)
n.98C>G
c.818C>G (p.Thr273Ser)
19g.41985126G>TCA406053151ATP1A3c.824C>A (p.Thr275Asn)
c.785C>A (p.Thr262Asn)
c.695C>A (p.Thr232Asn)
n.98C>A
c.818C>A (p.Thr273Asn)
19g.41985127T>ACA406053157ATP1A3c.823A>T (p.Thr275Ser)
c.784A>T (p.Thr262Ser)
c.694A>T (p.Thr232Ser)
n.97A>T
c.817A>T (p.Thr273Ser)
19g.41985127T>CCA406053158ATP1A3c.823A>G (p.Thr275Ala)
c.784A>G (p.Thr262Ala)
c.694A>G (p.Thr232Ala)
n.97A>G
c.817A>G (p.Thr273Ala)
19g.41985127T>GCA406053160ATP1A3c.823A>C (p.Thr275Pro)
c.784A>C (p.Thr262Pro)
c.694A>C (p.Thr232Pro)
n.97A>C
c.817A>C (p.Thr273Pro)
19g.41985128G>ACA507695201ATP1A3c.822C>T (p.Ala274=)
c.783C>T (p.Ala261=)
c.693C>T (p.Ala231=)
n.96C>T
c.816C>T (p.Ala272=)
gnomAD v4
19g.41985128G>CCA507695202ATP1A3c.822C>G (p.Ala274=)
c.783C>G (p.Ala261=)
c.693C>G (p.Ala231=)
n.96C>G
c.816C>G (p.Ala272=)
19g.41985128G>TCA507695203ATP1A3c.822C>A (p.Ala274=)
c.783C>A (p.Ala261=)
c.693C>A (p.Ala231=)
n.96C>A
c.816C>A (p.Ala272=)
19g.41985129G>ACA406053161ATP1A3c.821C>T (p.Ala274Val)
c.782C>T (p.Ala261Val)
c.692C>T (p.Ala231Val)
n.95C>T
c.815C>T (p.Ala272Val)
19g.41985129G>CCA406053163ATP1A3c.821C>G (p.Ala274Gly)
c.782C>G (p.Ala261Gly)
c.692C>G (p.Ala231Gly)
n.95C>G
c.815C>G (p.Ala272Gly)
19g.41985129G>TCA406053165ATP1A3c.821C>A (p.Ala274Asp)
c.782C>A (p.Ala261Asp)
c.692C>A (p.Ala231Asp)
n.95C>A
c.815C>A (p.Ala272Asp)
19g.41985130C>ACA406053170ATP1A3c.820G>T (p.Ala274Ser)
c.781G>T (p.Ala261Ser)
c.691G>T (p.Ala231Ser)
n.94G>T
c.814G>T (p.Ala272Ser)
19g.41985130C>GCA406053167ATP1A3c.820G>C (p.Ala274Pro)
c.781G>C (p.Ala261Pro)
c.691G>C (p.Ala231Pro)
n.94G>C
c.814G>C (p.Ala272Pro)
19g.41985130C>TCA406053168ATP1A3c.820G>A (p.Ala274Thr)
c.781G>A (p.Ala261Thr)
c.691G>A (p.Ala231Thr)
n.94G>A
c.814G>A (p.Ala272Thr)
19g.41985131G>ACA507695205ATP1A3c.819C>T (p.Ile273=)
c.780C>T (p.Ile260=)
c.690C>T (p.Ile230=)
n.93C>T
c.813C>T (p.Ile271=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.41985131G>CCA406053172ATP1A3c.819C>G (p.Ile273Met)
c.780C>G (p.Ile260Met)
c.690C>G (p.Ile230Met)
n.93C>G
c.813C>G (p.Ile271Met)
COSMIC
19g.41985131G=CA2336728040ATP1A3c.819C= (p.Ile273=)
c.780C= (p.Ile260=)
c.690C= (p.Ile230=)
n.93C=
c.813C= (p.Ile271=)
19g.41985131G>TCA507695207ATP1A3c.819C>A (p.Ile273=)
c.780C>A (p.Ile260=)
c.690C>A (p.Ile230=)
n.93C>A
c.813C>A (p.Ile271=)
19g.41985132A>CCA406053174ATP1A3c.818T>G (p.Ile273Ser)
c.779T>G (p.Ile260Ser)
c.689T>G (p.Ile230Ser)
n.92T>G
c.812T>G (p.Ile271Ser)
19g.41985132A>GCA406053175ATP1A3c.818T>C (p.Ile273Thr)
c.779T>C (p.Ile260Thr)
c.689T>C (p.Ile230Thr)
n.92T>C
c.812T>C (p.Ile271Thr)
19g.41985132A>TCA406053177ATP1A3c.818T>A (p.Ile273Asn)
c.779T>A (p.Ile260Asn)
c.689T>A (p.Ile230Asn)
n.92T>A
c.812T>A (p.Ile271Asn)
19g.41985133T>ACA406053179ATP1A3c.817A>T (p.Ile273Phe)
c.778A>T (p.Ile260Phe)
c.688A>T (p.Ile230Phe)
n.91A>T
c.811A>T (p.Ile271Phe)
19g.41985133T>CCA406053181ATP1A3c.817A>G (p.Ile273Val)
c.778A>G (p.Ile260Val)
c.688A>G (p.Ile230Val)
n.91A>G
c.811A>G (p.Ile271Val)
19g.41985133T>GCA406053182ATP1A3c.817A>C (p.Ile273Leu)
c.778A>C (p.Ile260Leu)
c.688A>C (p.Ile230Leu)
n.91A>C
c.811A>C (p.Ile271Leu)
19g.41985134A>CCA507695210ATP1A3c.816T>G (p.Arg272=)
c.777T>G (p.Arg259=)
c.687T>G (p.Arg229=)
n.90T>G
c.810T>G (p.Arg270=)
19g.41985134A>GCA507695211ATP1A3c.816T>C (p.Arg272=)
c.777T>C (p.Arg259=)
c.687T>C (p.Arg229=)
n.90T>C
c.810T>C (p.Arg270=)
19g.41985134A>TCA507695212ATP1A3c.816T>A (p.Arg272=)
c.777T>A (p.Arg259=)
c.687T>A (p.Arg229=)
n.90T>A
c.810T>A (p.Arg270=)
19g.41985135C>ACA406053183ATP1A3c.815G>T (p.Arg272Leu)
c.776G>T (p.Arg259Leu)
c.686G>T (p.Arg229Leu)
n.89G>T
c.809G>T (p.Arg270Leu)
19g.41985135C=CA2336728041ATP1A3c.815G= (p.Arg272=)
c.776G= (p.Arg259=)
c.686G= (p.Arg229=)
n.89G=
c.809G= (p.Arg270=)
19g.41985135C>GCA406053184ATP1A3c.815G>C (p.Arg272Pro)
c.776G>C (p.Arg259Pro)
c.686G>C (p.Arg229Pro)
n.89G>C
c.809G>C (p.Arg270Pro)
19g.41985135C>TCA406053185ATP1A3c.815G>A (p.Arg272His)
c.776G>A (p.Arg259His)
c.686G>A (p.Arg229His)
n.89G>A
c.809G>A (p.Arg270His)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.41985136G>ACA406053186ATP1A3c.814C>T (p.Arg272Cys)
c.775C>T (p.Arg259Cys)
c.685C>T (p.Arg229Cys)
n.88C>T
c.808C>T (p.Arg270Cys)
ClinVar dbSNP
19g.41985136G>CCA406053187ATP1A3c.814C>G (p.Arg272Gly)
c.775C>G (p.Arg259Gly)
c.685C>G (p.Arg229Gly)
n.88C>G
c.808C>G (p.Arg270Gly)
19g.41985136G>TCA406053188ATP1A3c.814C>A (p.Arg272Ser)
c.775C>A (p.Arg259Ser)
c.685C>A (p.Arg229Ser)
n.88C>A
c.808C>A (p.Arg270Ser)
19g.41985137G>ACA507695221ATP1A3c.813C>T (p.Gly271=)
c.774C>T (p.Gly258=)
c.684C>T (p.Gly228=)
n.87C>T
c.807C>T (p.Gly269=)
COSMIC
19g.41985137G>CCA507695220ATP1A3c.813C>G (p.Gly271=)
c.774C>G (p.Gly258=)
c.684C>G (p.Gly228=)
n.87C>G
c.807C>G (p.Gly269=)
gnomAD v4
19g.41985137G>TCA507695218ATP1A3c.813C>A (p.Gly271=)
c.774C>A (p.Gly258=)
c.684C>A (p.Gly228=)
n.87C>A
c.807C>A (p.Gly269=)
19g.41985138C>ACA406053189ATP1A3c.812G>T (p.Gly271Val)
c.773G>T (p.Gly258Val)
c.683G>T (p.Gly228Val)
n.86G>T
c.806G>T (p.Gly269Val)
19g.41985138C>GCA406053191ATP1A3c.812G>C (p.Gly271Ala)
c.773G>C (p.Gly258Ala)
c.683G>C (p.Gly228Ala)
n.86G>C
c.806G>C (p.Gly269Ala)
19g.41985138C>TCA406053190ATP1A3c.812G>A (p.Gly271Asp)
c.773G>A (p.Gly258Asp)
c.683G>A (p.Gly228Asp)
n.86G>A
c.806G>A (p.Gly269Asp)
19g.41985139C>ACA406053192ATP1A3c.811G>T (p.Gly271Cys)
c.772G>T (p.Gly258Cys)
c.682G>T (p.Gly228Cys)
n.85G>T
c.805G>T (p.Gly269Cys)
19g.41985139C>GCA406053193ATP1A3c.811G>C (p.Gly271Arg)
c.772G>C (p.Gly258Arg)
c.682G>C (p.Gly228Arg)
n.85G>C
c.805G>C (p.Gly269Arg)
19g.41985139C>TCA406053194ATP1A3c.811G>A (p.Gly271Ser)
c.772G>A (p.Gly258Ser)
c.682G>A (p.Gly228Ser)
n.85G>A
c.805G>A (p.Gly269Ser)
19g.41985140C>ACA406053195ATP1A3c.810G>T (p.Met270Ile)
c.771G>T (p.Met257Ile)
c.681G>T (p.Met227Ile)
n.84G>T
c.804G>T (p.Met268Ile)
19g.41985140C>GCA406053196ATP1A3c.810G>C (p.Met270Ile)
c.771G>C (p.Met257Ile)
c.681G>C (p.Met227Ile)
n.84G>C
c.804G>C (p.Met268Ile)
19g.41985140C>TCA406053197ATP1A3c.810G>A (p.Met270Ile)
c.771G>A (p.Met257Ile)
c.681G>A (p.Met227Ile)
n.84G>A
c.804G>A (p.Met268Ile)
gnomAD v4
19g.41985141A>CCA406053199ATP1A3c.809T>G (p.Met270Arg)
c.770T>G (p.Met257Arg)
c.680T>G (p.Met227Arg)
n.83T>G
c.803T>G (p.Met268Arg)
19g.41985141A>GCA406053200ATP1A3c.809T>C (p.Met270Thr)
c.770T>C (p.Met257Thr)
c.680T>C (p.Met227Thr)
n.83T>C
c.803T>C (p.Met268Thr)
19g.41985141A>TCA406053201ATP1A3c.809T>A (p.Met270Lys)
c.770T>A (p.Met257Lys)
c.680T>A (p.Met227Lys)
n.83T>A
c.803T>A (p.Met268Lys)
19g.41985142T>ACA406053202ATP1A3c.808A>T (p.Met270Leu)
c.769A>T (p.Met257Leu)
c.679A>T (p.Met227Leu)
n.82A>T
c.802A>T (p.Met268Leu)
19g.41985142T>CCA406053203ATP1A3c.808A>G (p.Met270Val)
c.769A>G (p.Met257Val)
c.679A>G (p.Met227Val)
n.82A>G
c.802A>G (p.Met268Val)
19g.41985142T>GCA406053204ATP1A3c.808A>C (p.Met270Leu)
c.769A>C (p.Met257Leu)
c.679A>C (p.Met227Leu)
n.82A>C
c.802A>C (p.Met268Leu)
19g.41985143G>ACA507695230ATP1A3c.807C>T (p.Val269=)
c.768C>T (p.Val256=)
c.678C>T (p.Val226=)
n.81C>T
c.801C>T (p.Val267=)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.41985143G>CCA507695234ATP1A3c.807C>G (p.Val269=)
c.768C>G (p.Val256=)
c.678C>G (p.Val226=)
n.81C>G
c.801C>G (p.Val267=)
19g.41985143G=CA2336728042ATP1A3c.807C= (p.Val269=)
c.768C= (p.Val256=)
c.678C= (p.Val226=)
n.81C=
c.801C= (p.Val267=)
19g.41985143G>TCA507695231ATP1A3c.807C>A (p.Val269=)
c.768C>A (p.Val256=)
c.678C>A (p.Val226=)
n.81C>A
c.801C>A (p.Val267=)
19g.41985144A>CCA406053207ATP1A3c.806T>G (p.Val269Gly)
c.767T>G (p.Val256Gly)
c.677T>G (p.Val226Gly)
n.80T>G
c.800T>G (p.Val267Gly)
19g.41985144A>GCA406053206ATP1A3c.806T>C (p.Val269Ala)
c.767T>C (p.Val256Ala)
c.677T>C (p.Val226Ala)
n.80T>C
c.800T>C (p.Val267Ala)
19g.41985144A>TCA406053205ATP1A3c.806T>A (p.Val269Asp)
c.767T>A (p.Val256Asp)
c.677T>A (p.Val226Asp)
n.80T>A
c.800T>A (p.Val267Asp)
19g.41985145C>ACA406053208ATP1A3c.805G>T (p.Val269Phe)
c.766G>T (p.Val256Phe)
c.676G>T (p.Val226Phe)
n.79G>T
c.799G>T (p.Val267Phe)
19g.41985145C>GCA406053209ATP1A3c.805G>C (p.Val269Leu)
c.766G>C (p.Val256Leu)
c.676G>C (p.Val226Leu)
n.79G>C
c.799G>C (p.Val267Leu)
19g.41985145C>TCA406053210ATP1A3c.805G>A (p.Val269Ile)
c.766G>A (p.Val256Ile)
c.676G>A (p.Val226Ile)
n.79G>A
c.799G>A (p.Val267Ile)
19g.41985146A>CCA507695239ATP1A3c.804T>G (p.Thr268=)
c.765T>G (p.Thr255=)
c.675T>G (p.Thr225=)
n.78T>G
c.798T>G (p.Thr266=)
19g.41985146A>GCA507695238ATP1A3c.804T>C (p.Thr268=)
c.765T>C (p.Thr255=)
c.675T>C (p.Thr225=)
n.78T>C
c.798T>C (p.Thr266=)
19g.41985146A>TCA507695237ATP1A3c.804T>A (p.Thr268=)
c.765T>A (p.Thr255=)
c.675T>A (p.Thr225=)
n.78T>A
c.798T>A (p.Thr266=)
19g.41985147G>ACA406053211ATP1A3c.803C>T (p.Thr268Ile)
c.764C>T (p.Thr255Ile)
c.674C>T (p.Thr225Ile)
n.77C>T
c.797C>T (p.Thr266Ile)
19g.41985147G>CCA406053212ATP1A3c.803C>G (p.Thr268Ser)
c.764C>G (p.Thr255Ser)
c.674C>G (p.Thr225Ser)
n.77C>G
c.797C>G (p.Thr266Ser)
19g.41985147G>TCA406053213ATP1A3c.803C>A (p.Thr268Asn)
c.764C>A (p.Thr255Asn)
c.674C>A (p.Thr225Asn)
n.77C>A
c.797C>A (p.Thr266Asn)
COSMIC
19g.41985148T>ACA406053214ATP1A3c.802A>T (p.Thr268Ser)
c.763A>T (p.Thr255Ser)
c.673A>T (p.Thr225Ser)
n.76A>T
c.796A>T (p.Thr266Ser)
gnomAD v4
19g.41985148T>CCA406053215ATP1A3c.802A>G (p.Thr268Ala)
c.763A>G (p.Thr255Ala)
c.673A>G (p.Thr225Ala)
n.76A>G
c.796A>G (p.Thr266Ala)
19g.41985148T>GCA406053216ATP1A3c.802A>C (p.Thr268Pro)
c.763A>C (p.Thr255Pro)
c.673A>C (p.Thr225Pro)
n.76A>C
c.796A>C (p.Thr266Pro)
19g.41985149G>ACA507695243ATP1A3c.801C>T (p.Arg267=)
c.762C>T (p.Arg254=)
c.672C>T (p.Arg224=)
n.75C>T
c.795C>T (p.Arg265=)
ClinVar
19g.41985149G>CCA507695247ATP1A3c.801C>G (p.Arg267=)
c.762C>G (p.Arg254=)
c.672C>G (p.Arg224=)
n.75C>G
c.795C>G (p.Arg265=)
19g.41985149G>TCA507695244ATP1A3c.801C>A (p.Arg267=)
c.762C>A (p.Arg254=)
c.672C>A (p.Arg224=)
n.75C>A
c.795C>A (p.Arg265=)
gnomAD v4
19g.41985150C>ACA406053217ATP1A3c.800G>T (p.Arg267Leu)
c.761G>T (p.Arg254Leu)
c.671G>T (p.Arg224Leu)
n.74G>T
c.794G>T (p.Arg265Leu)
19g.41985150C=CA2336728043ATP1A3c.800G= (p.Arg267=)
c.761G= (p.Arg254=)
c.671G= (p.Arg224=)
n.74G=
c.794G= (p.Arg265=)
19g.41985150C>GCA406053218ATP1A3c.800G>C (p.Arg267Pro)
c.761G>C (p.Arg254Pro)
c.671G>C (p.Arg224Pro)
n.74G>C
c.794G>C (p.Arg265Pro)
19g.41985150C>TCA406053219ATP1A3c.800G>A (p.Arg267His)
c.761G>A (p.Arg254His)
c.671G>A (p.Arg224His)
n.74G>A
c.794G>A (p.Arg265His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41985152_41985155dupCA2585370644ATP1A3c.797_800dup (p.Thr268ProfsTer26)
c.758_761dup (p.Thr255ProfsTer26)
c.668_671dup (p.Thr225ProfsTer26)
n.71_74dup
c.791_794dup (p.Thr266ProfsTer26)
gnomAD v4
19g.41985151G>ACA9467779ATP1A3c.799C>T (p.Arg267Cys)
c.760C>T (p.Arg254Cys)
c.670C>T (p.Arg224Cys)
n.73C>T
c.793C>T (p.Arg265Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985151G>CCA406053221ATP1A3c.799C>G (p.Arg267Gly)
c.760C>G (p.Arg254Gly)
c.670C>G (p.Arg224Gly)
n.73C>G
c.793C>G (p.Arg265Gly)
19g.41985151G=CA2336728044ATP1A3c.799C= (p.Arg267=)
c.760C= (p.Arg254=)
c.670C= (p.Arg224=)
n.73C=
c.793C= (p.Arg265=)
19g.41985151G>TCA406053220ATP1A3c.799C>A (p.Arg267Ser)
c.760C>A (p.Arg254Ser)
c.670C>A (p.Arg224Ser)
n.73C>A
c.793C>A (p.Arg265Ser)
19g.41985152G>ACA308597298ATP1A3c.798C>T (p.Asp266=)
c.759C>T (p.Asp253=)
c.669C>T (p.Asp223=)
n.72C>T
c.792C>T (p.Asp264=)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41985152G>CCA406053222ATP1A3c.798C>G (p.Asp266Glu)
c.759C>G (p.Asp253Glu)
c.669C>G (p.Asp223Glu)
n.72C>G
c.792C>G (p.Asp264Glu)
19g.41985152G=CA2336728045ATP1A3c.798C= (p.Asp266=)
c.759C= (p.Asp253=)
c.669C= (p.Asp223=)
n.72C=
c.792C= (p.Asp264=)
19g.41985152G>TCA406053223ATP1A3c.798C>A (p.Asp266Glu)
c.759C>A (p.Asp253Glu)
c.669C>A (p.Asp223Glu)
n.72C>A
c.792C>A (p.Asp264Glu)
19g.41985153T>ACA406053224ATP1A3c.797A>T (p.Asp266Val)
c.758A>T (p.Asp253Val)
c.668A>T (p.Asp223Val)
n.71A>T
c.791A>T (p.Asp264Val)
19g.41985153T>CCA406053225ATP1A3c.797A>G (p.Asp266Gly)
c.758A>G (p.Asp253Gly)
c.668A>G (p.Asp223Gly)
n.71A>G
c.791A>G (p.Asp264Gly)
19g.41985153T>GCA406053226ATP1A3c.797A>C (p.Asp266Ala)
c.758A>C (p.Asp253Ala)
c.668A>C (p.Asp223Ala)
n.71A>C
c.791A>C (p.Asp264Ala)
19g.41985154C>ACA406053227ATP1A3c.796G>T (p.Asp266Tyr)
c.757G>T (p.Asp253Tyr)
c.667G>T (p.Asp223Tyr)
n.70G>T
c.790G>T (p.Asp264Tyr)
gnomAD v4
19g.41985154C=CA2336728046ATP1A3c.796G= (p.Asp266=)
c.757G= (p.Asp253=)
c.667G= (p.Asp223=)
n.70G=
c.790G= (p.Asp264=)
19g.41985154C>GCA406053228ATP1A3c.796G>C (p.Asp266His)
c.757G>C (p.Asp253His)
c.667G>C (p.Asp223His)
n.70G>C
c.790G>C (p.Asp264His)
19g.41985154C>TCA16608258ATP1A3c.796G>A (p.Asp266Asn)
c.757G>A (p.Asp253Asn)
c.667G>A (p.Asp223Asn)
n.70G>A
c.790G>A (p.Asp264Asn)
ClinVar dbSNP gnomAD v4
19g.41985155G>ACA9467780ATP1A3c.795C>T (p.Gly265=)
c.756C>T (p.Gly252=)
c.666C>T (p.Gly222=)
n.69C>T
c.789C>T (p.Gly263=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985155G>CCA507695257ATP1A3c.795C>G (p.Gly265=)
c.756C>G (p.Gly252=)
c.666C>G (p.Gly222=)
n.69C>G
c.789C>G (p.Gly263=)
19g.41985155G=CA2336728047ATP1A3c.795C= (p.Gly265=)
c.756C= (p.Gly252=)
c.666C= (p.Gly222=)
n.69C=
c.789C= (p.Gly263=)
19g.41985155G>TCA507695258ATP1A3c.795C>A (p.Gly265=)
c.756C>A (p.Gly252=)
c.666C>A (p.Gly222=)
n.69C>A
c.789C>A (p.Gly263=)
19g.41985156C>ACA406053229ATP1A3c.794G>T (p.Gly265Val)
c.755G>T (p.Gly252Val)
c.665G>T (p.Gly222Val)
n.68G>T
c.788G>T (p.Gly263Val)
19g.41985156C>GCA406053230ATP1A3c.794G>C (p.Gly265Ala)
c.755G>C (p.Gly252Ala)
c.665G>C (p.Gly222Ala)
n.68G>C
c.788G>C (p.Gly263Ala)
19g.41985156C>TCA406053231ATP1A3c.794G>A (p.Gly265Asp)
c.755G>A (p.Gly252Asp)
c.665G>A (p.Gly222Asp)
n.68G>A
c.788G>A (p.Gly263Asp)
19g.41985157C>ACA406053234ATP1A3c.793G>T (p.Gly265Cys)
c.754G>T (p.Gly252Cys)
c.664G>T (p.Gly222Cys)
n.67G>T
c.787G>T (p.Gly263Cys)
19g.41985157C>GCA406053233ATP1A3c.793G>C (p.Gly265Arg)
c.754G>C (p.Gly252Arg)
c.664G>C (p.Gly222Arg)
n.67G>C
c.787G>C (p.Gly263Arg)
19g.41985157C>TCA406053232ATP1A3c.793G>A (p.Gly265Ser)
c.754G>A (p.Gly252Ser)
c.664G>A (p.Gly222Ser)
n.67G>A
c.787G>A (p.Gly263Ser)
19g.41985158C>ACA507695265ATP1A3c.792G>T (p.Thr264=)
c.753G>T (p.Thr251=)
c.663G>T (p.Thr221=)
n.66G>T
c.786G>T (p.Thr262=)
ClinVar gnomAD v4
19g.41985158C=CA2336728048ATP1A3c.792G= (p.Thr264=)
c.753G= (p.Thr251=)
c.663G= (p.Thr221=)
n.66G=
c.786G= (p.Thr262=)
19g.41985158C>GCA507695266ATP1A3c.792G>C (p.Thr264=)
c.753G>C (p.Thr251=)
c.663G>C (p.Thr221=)
n.66G>C
c.786G>C (p.Thr262=)
19g.41985158C>TCA9467781ATP1A3c.792G>A (p.Thr264=)
c.753G>A (p.Thr251=)
c.663G>A (p.Thr221=)
n.66G>A
c.786G>A (p.Thr262=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.41985159G>ACA406053235ATP1A3c.791C>T (p.Thr264Met)
c.752C>T (p.Thr251Met)
c.662C>T (p.Thr221Met)
n.65C>T
c.785C>T (p.Thr262Met)
dbSNP gnomAD v3 gnomAD v4
19g.41985159G>CCA406053236ATP1A3c.791C>G (p.Thr264Arg)
c.752C>G (p.Thr251Arg)
c.662C>G (p.Thr221Arg)
n.65C>G
c.785C>G (p.Thr262Arg)
ClinVar
19g.41985159G=CA2336728049ATP1A3c.791C= (p.Thr264=)
c.752C= (p.Thr251=)
c.662C= (p.Thr221=)
n.65C=
c.785C= (p.Thr262=)
19g.41985159G>TCA406053237ATP1A3c.791C>A (p.Thr264Lys)
c.752C>A (p.Thr251Lys)
c.662C>A (p.Thr221Lys)
n.65C>A
c.785C>A (p.Thr262Lys)
COSMIC
19g.41985160T>ACA406053238ATP1A3c.790A>T (p.Thr264Ser)
c.751A>T (p.Thr251Ser)
c.661A>T (p.Thr221Ser)
n.64A>T
c.784A>T (p.Thr262Ser)
19g.41985160T>CCA406053239ATP1A3c.790A>G (p.Thr264Ala)
c.751A>G (p.Thr251Ala)
c.661A>G (p.Thr221Ala)
n.64A>G
c.784A>G (p.Thr262Ala)
19g.41985160T>GCA406053240ATP1A3c.790A>C (p.Thr264Pro)
c.751A>C (p.Thr251Pro)
c.661A>C (p.Thr221Pro)
n.64A>C
c.784A>C (p.Thr262Pro)
19g.41985161G>ACA507695269ATP1A3c.789C>T (p.Ala263=)
c.750C>T (p.Ala250=)
c.660C>T (p.Ala220=)
n.63C>T
c.783C>T (p.Ala261=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41985161G>CCA507695271ATP1A3c.789C>G (p.Ala263=)
c.750C>G (p.Ala250=)
c.660C>G (p.Ala220=)
n.63C>G
c.783C>G (p.Ala261=)
19g.41985161G=CA2336728050ATP1A3c.789C= (p.Ala263=)
c.750C= (p.Ala250=)
c.660C= (p.Ala220=)
n.63C=
c.783C= (p.Ala261=)
19g.41985161G>TCA507695272ATP1A3c.789C>A (p.Ala263=)
c.750C>A (p.Ala250=)
c.660C>A (p.Ala220=)
n.63C>A
c.783C>A (p.Ala261=)
19g.41985162G>ACA406053241ATP1A3c.788C>T (p.Ala263Val)
c.749C>T (p.Ala250Val)
c.659C>T (p.Ala220Val)
n.62C>T
c.782C>T (p.Ala261Val)
19g.41985162G>CCA406053242ATP1A3c.788C>G (p.Ala263Gly)
c.749C>G (p.Ala250Gly)
c.659C>G (p.Ala220Gly)
n.62C>G
c.782C>G (p.Ala261Gly)
19g.41985162G>TCA406053243ATP1A3c.788C>A (p.Ala263Asp)
c.749C>A (p.Ala250Asp)
c.659C>A (p.Ala220Asp)
n.62C>A
c.782C>A (p.Ala261Asp)
19g.41985163C>ACA406053244ATP1A3c.787G>T (p.Ala263Ser)
c.748G>T (p.Ala250Ser)
c.658G>T (p.Ala220Ser)
n.61G>T
c.781G>T (p.Ala261Ser)
19g.41985163C>GCA406053245ATP1A3c.787G>C (p.Ala263Pro)
c.748G>C (p.Ala250Pro)
c.658G>C (p.Ala220Pro)
n.61G>C
c.781G>C (p.Ala261Pro)
19g.41985163C>TCA406053246ATP1A3c.787G>A (p.Ala263Thr)
c.748G>A (p.Ala250Thr)
c.658G>A (p.Ala220Thr)
n.61G>A
c.781G>A (p.Ala261Thr)
19g.41985164C>ACA507695275ATP1A3c.786G>T (p.Val262=)
c.747G>T (p.Val249=)
c.657G>T (p.Val219=)
n.60G>T
c.780G>T (p.Val260=)
19g.41985164C=CA2336728051ATP1A3c.786G= (p.Val262=)
c.747G= (p.Val249=)
c.657G= (p.Val219=)
n.60G=
c.780G= (p.Val260=)
19g.41985164C>GCA507695279ATP1A3c.786G>C (p.Val262=)
c.747G>C (p.Val249=)
c.657G>C (p.Val219=)
n.60G>C
c.780G>C (p.Val260=)
19g.41985164C>TCA507695278ATP1A3c.786G>A (p.Val262=)
c.747G>A (p.Val249=)
c.657G>A (p.Val219=)
n.60G>A
c.780G>A (p.Val260=)
dbSNP gnomAD v4
19g.41985165A>CCA406053248ATP1A3c.785T>G (p.Val262Gly)
c.746T>G (p.Val249Gly)
c.656T>G (p.Val219Gly)
n.59T>G
c.779T>G (p.Val260Gly)
19g.41985165A>GCA406053249ATP1A3c.785T>C (p.Val262Ala)
c.746T>C (p.Val249Ala)
c.656T>C (p.Val219Ala)
n.59T>C
c.779T>C (p.Val260Ala)
19g.41985165A>TCA406053247ATP1A3c.785T>A (p.Val262Glu)
c.746T>A (p.Val249Glu)
c.656T>A (p.Val219Glu)
n.59T>A
c.779T>A (p.Val260Glu)
19g.41985166C>ACA406053250ATP1A3c.784G>T (p.Val262Leu)
c.745G>T (p.Val249Leu)
c.655G>T (p.Val219Leu)
n.58G>T
c.778G>T (p.Val260Leu)
19g.41985166C>GCA406053251ATP1A3c.784G>C (p.Val262Leu)
c.745G>C (p.Val249Leu)
c.655G>C (p.Val219Leu)
n.58G>C
c.778G>C (p.Val260Leu)
19g.41985166C>TCA406053252ATP1A3c.784G>A (p.Val262Met)
c.745G>A (p.Val249Met)
c.655G>A (p.Val219Met)
n.58G>A
c.778G>A (p.Val260Met)

Number of alleles fetched