Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
19g.41985167C>ACA507695284ATP1A3c.783G>T (p.Val261=)
c.744G>T (p.Val248=)
c.654G>T (p.Val218=)
n.57G>T
c.777G>T (p.Val259=)
19g.41985167C>GCA507695285ATP1A3c.783G>C (p.Val261=)
c.744G>C (p.Val248=)
c.654G>C (p.Val218=)
n.57G>C
c.777G>C (p.Val259=)
19g.41985167C>TCA507695287ATP1A3c.783G>A (p.Val261=)
c.744G>A (p.Val248=)
c.654G>A (p.Val218=)
n.57G>A
c.777G>A (p.Val259=)
19g.41985168A>CCA406053253ATP1A3c.782T>G (p.Val261Gly)
c.743T>G (p.Val248Gly)
c.653T>G (p.Val218Gly)
n.56T>G
c.776T>G (p.Val259Gly)
19g.41985168A>GCA406053254ATP1A3c.782T>C (p.Val261Ala)
c.743T>C (p.Val248Ala)
c.653T>C (p.Val218Ala)
n.56T>C
c.776T>C (p.Val259Ala)
19g.41985168A>TCA406053255ATP1A3c.782T>A (p.Val261Glu)
c.743T>A (p.Val248Glu)
c.653T>A (p.Val218Glu)
n.56T>A
c.776T>A (p.Val259Glu)
19g.41985169C>ACA406053256ATP1A3c.781G>T (p.Val261Leu)
c.742G>T (p.Val248Leu)
c.652G>T (p.Val218Leu)
n.55G>T
c.775G>T (p.Val259Leu)
19g.41985169C>GCA406053257ATP1A3c.781G>C (p.Val261Leu)
c.742G>C (p.Val248Leu)
c.652G>C (p.Val218Leu)
n.55G>C
c.775G>C (p.Val259Leu)
19g.41985169C>TCA406053258ATP1A3c.781G>A (p.Val261Met)
c.742G>A (p.Val248Met)
c.652G>A (p.Val218Met)
n.55G>A
c.775G>A (p.Val259Met)
19g.41985170C>ACA308597312ATP1A3c.780G>T (p.Val260=)
c.741G>T (p.Val247=)
c.651G>T (p.Val217=)
n.54G>T
c.774G>T (p.Val258=)
dbSNP
19g.41985170C=CA2336728052ATP1A3c.780G= (p.Val260=)
c.741G= (p.Val247=)
c.651G= (p.Val217=)
n.54G=
c.774G= (p.Val258=)
19g.41985170C>GCA9467782ATP1A3c.780G>C (p.Val260=)
c.741G>C (p.Val247=)
c.651G>C (p.Val217=)
n.54G>C
c.774G>C (p.Val258=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985170C>TCA507695291ATP1A3c.780G>A (p.Val260=)
c.741G>A (p.Val247=)
c.651G>A (p.Val217=)
n.54G>A
c.774G>A (p.Val258=)
19g.41985171A>CCA406053261ATP1A3c.779T>G (p.Val260Gly)
c.740T>G (p.Val247Gly)
c.650T>G (p.Val217Gly)
n.53T>G
c.773T>G (p.Val258Gly)
19g.41985171A>GCA406053260ATP1A3c.779T>C (p.Val260Ala)
c.740T>C (p.Val247Ala)
c.650T>C (p.Val217Ala)
n.53T>C
c.773T>C (p.Val258Ala)
19g.41985171A>TCA406053259ATP1A3c.779T>A (p.Val260Glu)
c.740T>A (p.Val247Glu)
c.650T>A (p.Val217Glu)
n.53T>A
c.773T>A (p.Val258Glu)
19g.41985172C>ACA406053262ATP1A3c.778G>T (p.Val260Leu)
c.739G>T (p.Val247Leu)
c.649G>T (p.Val217Leu)
n.52G>T
c.772G>T (p.Val258Leu)
19g.41985172C=CA2336728053ATP1A3c.778G= (p.Val260=)
c.739G= (p.Val247=)
c.649G= (p.Val217=)
n.52G=
c.772G= (p.Val258=)
19g.41985172C>GCA406053263ATP1A3c.778G>C (p.Val260Leu)
c.739G>C (p.Val247Leu)
c.649G>C (p.Val217Leu)
n.52G>C
c.772G>C (p.Val258Leu)
19g.41985172C>TCA9467783ATP1A3c.778G>A (p.Val260Met)
c.739G>A (p.Val247Met)
c.649G>A (p.Val217Met)
n.52G>A
c.772G>A (p.Val258Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985173G>ACA308597325ATP1A3c.777C>T (p.Gly259=)
c.738C>T (p.Gly246=)
c.648C>T (p.Gly216=)
n.51C>T
c.771C>T (p.Gly257=)
dbSNP gnomAD v4
19g.41985173G>CCA507695295ATP1A3c.777C>G (p.Gly259=)
c.738C>G (p.Gly246=)
c.648C>G (p.Gly216=)
n.51C>G
c.771C>G (p.Gly257=)
19g.41985173G=CA2336728054ATP1A3c.777C= (p.Gly259=)
c.738C= (p.Gly246=)
c.648C= (p.Gly216=)
n.51C=
c.771C= (p.Gly257=)
19g.41985173G>TCA507695297ATP1A3c.777C>A (p.Gly259=)
c.738C>A (p.Gly246=)
c.648C>A (p.Gly216=)
n.51C>A
c.771C>A (p.Gly257=)
19g.41985174C>ACA406053264ATP1A3c.776G>T (p.Gly259Val)
c.737G>T (p.Gly246Val)
c.647G>T (p.Gly216Val)
n.50G>T
c.770G>T (p.Gly257Val)
19g.41985174C>GCA406053265ATP1A3c.776G>C (p.Gly259Ala)
c.737G>C (p.Gly246Ala)
c.647G>C (p.Gly216Ala)
n.50G>C
c.770G>C (p.Gly257Ala)
19g.41985174C>TCA406053266ATP1A3c.776G>A (p.Gly259Asp)
c.737G>A (p.Gly246Asp)
c.647G>A (p.Gly216Asp)
n.50G>A
c.770G>A (p.Gly257Asp)
19g.41985175C>ACA406053267ATP1A3c.775G>T (p.Gly259Cys)
c.736G>T (p.Gly246Cys)
c.646G>T (p.Gly216Cys)
n.49G>T
c.769G>T (p.Gly257Cys)
19g.41985175C>GCA406053268ATP1A3c.775G>C (p.Gly259Arg)
c.736G>C (p.Gly246Arg)
c.646G>C (p.Gly216Arg)
n.49G>C
c.769G>C (p.Gly257Arg)
19g.41985175C>TCA406053269ATP1A3c.775G>A (p.Gly259Ser)
c.736G>A (p.Gly246Ser)
c.646G>A (p.Gly216Ser)
n.49G>A
c.769G>A (p.Gly257Ser)
gnomAD v4
19g.41985176C>ACA507695301ATP1A3c.774G>T (p.Arg258=)
c.735G>T (p.Arg245=)
c.645G>T (p.Arg215=)
n.48G>T
c.768G>T (p.Arg256=)
dbSNP
19g.41985176C=CA2336728055ATP1A3c.774G= (p.Arg258=)
c.735G= (p.Arg245=)
c.645G= (p.Arg215=)
n.48G=
c.768G= (p.Arg256=)
19g.41985176C>GCA507695302ATP1A3c.774G>C (p.Arg258=)
c.735G>C (p.Arg245=)
c.645G>C (p.Arg215=)
n.48G>C
c.768G>C (p.Arg256=)
19g.41985176C>TCA507695303ATP1A3c.774G>A (p.Arg258=)
c.735G>A (p.Arg245=)
c.645G>A (p.Arg215=)
n.48G>A
c.768G>A (p.Arg256=)
19g.41985177C>ACA406053270ATP1A3c.773G>T (p.Arg258Leu)
c.734G>T (p.Arg245Leu)
c.644G>T (p.Arg215Leu)
n.47G>T
c.767G>T (p.Arg256Leu)
gnomAD v4
19g.41985177C=CA2336728056ATP1A3c.773G= (p.Arg258=)
c.734G= (p.Arg245=)
c.644G= (p.Arg215=)
n.47G=
c.767G= (p.Arg256=)
19g.41985177C>GCA406053271ATP1A3c.773G>C (p.Arg258Pro)
c.734G>C (p.Arg245Pro)
c.644G>C (p.Arg215Pro)
n.47G>C
c.767G>C (p.Arg256Pro)
dbSNP gnomAD v2 gnomAD v4
19g.41985177C>TCA406053272ATP1A3c.773G>A (p.Arg258Gln)
c.734G>A (p.Arg245Gln)
c.644G>A (p.Arg215Gln)
n.47G>A
c.767G>A (p.Arg256Gln)
19g.41985178G>ACA406053274ATP1A3c.772C>T (p.Arg258Trp)
c.733C>T (p.Arg245Trp)
c.643C>T (p.Arg215Trp)
n.46C>T
c.766C>T (p.Arg256Trp)
19g.41985178G>CCA406053273ATP1A3c.772C>G (p.Arg258Gly)
c.733C>G (p.Arg245Gly)
c.643C>G (p.Arg215Gly)
n.46C>G
c.766C>G (p.Arg256Gly)
19g.41985178G>TCA507695305ATP1A3c.772C>A (p.Arg258=)
c.733C>A (p.Arg245=)
c.643C>A (p.Arg215=)
n.46C>A
c.766C>A (p.Arg256=)
19g.41985178_41985179delinsGACA2336728057ATP1A3c.771_772delinsTC (p.Ala257=)
c.732_733delinsTC (p.Ala244=)
c.642_643delinsTC (p.Ala214=)
n.45_46delinsTC
c.765_766delinsTC (p.Ala255=)
19g.41985179delCA882392799ATP1A3c.771del (p.Arg258GlyfsTer?)
c.732del (p.Arg245GlyfsTer?)
c.642del (p.Arg215GlyfsTer?)
n.45del
c.765del (p.Arg256GlyfsTer?)
dbSNP
19g.41985179A>CCA507695308ATP1A3c.771T>G (p.Ala257=)
c.732T>G (p.Ala244=)
c.642T>G (p.Ala214=)
n.45T>G
c.765T>G (p.Ala255=)
19g.41985179A>GCA507695306ATP1A3c.771T>C (p.Ala257=)
c.732T>C (p.Ala244=)
c.642T>C (p.Ala214=)
n.45T>C
c.765T>C (p.Ala255=)
19g.41985179A>TCA507695307ATP1A3c.771T>A (p.Ala257=)
c.732T>A (p.Ala244=)
c.642T>A (p.Ala214=)
n.45T>A
c.765T>A (p.Ala255=)
19g.41985180G>ACA406053275ATP1A3c.770C>T (p.Ala257Val)
c.731C>T (p.Ala244Val)
c.641C>T (p.Ala214Val)
n.44C>T
c.764C>T (p.Ala255Val)
19g.41985180G>CCA406053277ATP1A3c.770C>G (p.Ala257Gly)
c.731C>G (p.Ala244Gly)
c.641C>G (p.Ala214Gly)
n.44C>G
c.764C>G (p.Ala255Gly)
19g.41985180G>TCA406053276ATP1A3c.770C>A (p.Ala257Asp)
c.731C>A (p.Ala244Asp)
c.641C>A (p.Ala214Asp)
n.44C>A
c.764C>A (p.Ala255Asp)
19g.41985181C>ACA406053278ATP1A3c.769G>T (p.Ala257Ser)
c.730G>T (p.Ala244Ser)
c.640G>T (p.Ala214Ser)
n.43G>T
c.763G>T (p.Ala255Ser)
19g.41985181C>GCA406053279ATP1A3c.769G>C (p.Ala257Pro)
c.730G>C (p.Ala244Pro)
c.640G>C (p.Ala214Pro)
n.43G>C
c.763G>C (p.Ala255Pro)
19g.41985181C>TCA406053280ATP1A3c.769G>A (p.Ala257Thr)
c.730G>A (p.Ala244Thr)
c.640G>A (p.Ala214Thr)
n.43G>A
c.763G>A (p.Ala255Thr)
19g.41985182C>ACA507695312ATP1A3c.768G>T (p.Thr256=)
c.729G>T (p.Thr243=)
c.639G>T (p.Thr213=)
n.42G>T
c.762G>T (p.Thr254=)
19g.41985182C=CA2336728058ATP1A3c.768G= (p.Thr256=)
c.729G= (p.Thr243=)
c.639G= (p.Thr213=)
n.42G=
c.762G= (p.Thr254=)
19g.41985182C>GCA507695313ATP1A3c.768G>C (p.Thr256=)
c.729G>C (p.Thr243=)
c.639G>C (p.Thr213=)
n.42G>C
c.762G>C (p.Thr254=)
dbSNP
19g.41985182C>TCA9467784ATP1A3c.768G>A (p.Thr256=)
c.729G>A (p.Thr243=)
c.639G>A (p.Thr213=)
n.42G>A
c.762G>A (p.Thr254=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41985182_41985211delCA2814451414ATP1A3c.764-25_768del
c.725-25_729del
c.635-25_639del
n.38-25_42del
c.758-25_762del
19g.41985183G>ACA406053281ATP1A3c.767C>T (p.Thr256Met)
c.728C>T (p.Thr243Met)
c.638C>T (p.Thr213Met)
n.41C>T
c.761C>T (p.Thr254Met)
ClinVar dbSNP gnomAD v4 COSMIC
19g.41985183G>CCA406053282ATP1A3c.767C>G (p.Thr256Arg)
c.728C>G (p.Thr243Arg)
c.638C>G (p.Thr213Arg)
n.41C>G
c.761C>G (p.Thr254Arg)
19g.41985183G=CA2336728059ATP1A3c.767C= (p.Thr256=)
c.728C= (p.Thr243=)
c.638C= (p.Thr213=)
n.41C=
c.761C= (p.Thr254=)
19g.41985183G>TCA406053283ATP1A3c.767C>A (p.Thr256Lys)
c.728C>A (p.Thr243Lys)
c.638C>A (p.Thr213Lys)
n.41C>A
c.761C>A (p.Thr254Lys)
19g.41985184delCA2585370645ATP1A3c.766del (p.Thr256ArgfsTer?)
c.727del (p.Thr243ArgfsTer?)
c.637del (p.Thr213ArgfsTer?)
n.40del
c.760del (p.Thr254ArgfsTer?)
gnomAD v4
19g.41985184T>ACA406053284ATP1A3c.766A>T (p.Thr256Ser)
c.727A>T (p.Thr243Ser)
c.637A>T (p.Thr213Ser)
n.40A>T
c.760A>T (p.Thr254Ser)
19g.41985184T>CCA406053285ATP1A3c.766A>G (p.Thr256Ala)
c.727A>G (p.Thr243Ala)
c.637A>G (p.Thr213Ala)
n.40A>G
c.760A>G (p.Thr254Ala)
19g.41985184T>GCA406053286ATP1A3c.766A>C (p.Thr256Pro)
c.727A>C (p.Thr243Pro)
c.637A>C (p.Thr213Pro)
n.40A>C
c.760A>C (p.Thr254Pro)
19g.41985185G>ACA507695316ATP1A3c.765C>T (p.Gly255=)
c.726C>T (p.Gly242=)
c.636C>T (p.Gly212=)
n.39C>T
c.759C>T (p.Gly253=)
gnomAD v4
19g.41985185G>CCA507695319ATP1A3c.765C>G (p.Gly255=)
c.726C>G (p.Gly242=)
c.636C>G (p.Gly212=)
n.39C>G
c.759C>G (p.Gly253=)
19g.41985185G>TCA507695318ATP1A3c.765C>A (p.Gly255=)
c.726C>A (p.Gly242=)
c.636C>A (p.Gly212=)
n.39C>A
c.759C>A (p.Gly253=)
19g.41985186C>ACA406053287ATP1A3c.764G>T (p.Gly255Val)
c.725G>T (p.Gly242Val)
c.635G>T (p.Gly212Val)
n.38G>T
c.758G>T (p.Gly253Val)
ClinVar
19g.41985186C=CA2336728060ATP1A3c.764G= (p.Gly255=)
c.725G= (p.Gly242=)
c.635G= (p.Gly212=)
n.38G=
c.758G= (p.Gly253=)
19g.41985186C>GCA406053288ATP1A3c.764G>C (p.Gly255Ala)
c.725G>C (p.Gly242Ala)
c.635G>C (p.Gly212Ala)
n.38G>C
c.758G>C (p.Gly253Ala)
19g.41985186C>TCA406053289ATP1A3c.764G>A (p.Gly255Asp)
c.725G>A (p.Gly242Asp)
c.635G>A (p.Gly212Asp)
n.38G>A
c.758G>A (p.Gly253Asp)
dbSNP gnomAD v2 COSMIC
19g.41985187C>ACA406053292ATP1A3c.764-1G>T (n.764-1G>T)
c.725-1G>T (n.725-1G>T)
c.635-1G>T (n.635-1G>T)
n.38-1G>T
c.758-1G>T (n.758-1G>T)
19g.41985187C>GCA406053290ATP1A3c.764-1G>C (n.764-1G>C)
c.725-1G>C (n.725-1G>C)
c.635-1G>C (n.635-1G>C)
n.38-1G>C
c.758-1G>C (n.758-1G>C)
19g.41985187C>TCA406053291ATP1A3c.764-1G>A (n.764-1G>A)
c.725-1G>A (n.725-1G>A)
c.635-1G>A (n.635-1G>A)
n.38-1G>A
c.758-1G>A (n.758-1G>A)
19g.41985188T>ACA406053293ATP1A3c.764-2A>T (n.764-2A>T)
c.725-2A>T (n.725-2A>T)
c.635-2A>T (n.635-2A>T)
n.38-2A>T
c.758-2A>T (n.758-2A>T)
19g.41985188T>CCA406053294ATP1A3c.764-2A>G (n.764-2A>G)
c.725-2A>G (n.725-2A>G)
c.635-2A>G (n.635-2A>G)
n.38-2A>G
c.758-2A>G (n.758-2A>G)
19g.41985188T>GCA406053295ATP1A3c.764-2A>C (n.764-2A>C)
c.725-2A>C (n.725-2A>C)
c.635-2A>C (n.635-2A>C)
n.38-2A>C
c.758-2A>C (n.758-2A>C)
19g.41985189G>ACA633471541ATP1A3c.764-3C>T (n.764-3C>T)
c.725-3C>T (n.725-3C>T)
c.635-3C>T (n.635-3C>T)
n.38-3C>T
c.758-3C>T (n.758-3C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.41985189G=CA2336728061ATP1A3c.764-3C= (n.764-3C=)
c.725-3C= (n.725-3C=)
c.635-3C= (n.635-3C=)
n.38-3C=
c.758-3C= (n.758-3C=)
19g.41985190C>TCA2585370646ATP1A3c.764-4G>A (n.764-4G>A)
c.725-4G>A (n.725-4G>A)
c.635-4G>A (n.635-4G>A)
n.38-4G>A
c.758-4G>A (n.758-4G>A)
gnomAD v4
19g.41985191A=CA2336728062ATP1A3c.764-5T= (n.764-5T=)
c.725-5T= (n.725-5T=)
c.635-5T= (n.635-5T=)
n.38-5T=
c.758-5T= (n.758-5T=)
19g.41985191A>GCA633471542ATP1A3c.764-5T>C (n.764-5T>C)
c.725-5T>C (n.725-5T>C)
c.635-5T>C (n.635-5T>C)
n.38-5T>C
c.758-5T>C (n.758-5T>C)
dbSNP gnomAD v2 gnomAD v4
19g.41985192G>ACA9467785ATP1A3c.764-6C>T (n.764-6C>T)
c.725-6C>T (n.725-6C>T)
c.635-6C>T (n.635-6C>T)
n.38-6C>T
c.758-6C>T (n.758-6C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.41985192G=CA2336728063ATP1A3c.764-6C= (n.764-6C=)
c.725-6C= (n.725-6C=)
c.635-6C= (n.635-6C=)
n.38-6C=
c.758-6C= (n.758-6C=)
19g.41985193G>ACA9467786ATP1A3c.764-7C>T (n.764-7C>T)
c.725-7C>T (n.725-7C>T)
c.635-7C>T (n.635-7C>T)
n.38-7C>T
c.758-7C>T (n.758-7C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.41985193G=CA2336728064ATP1A3c.764-7C= (n.764-7C=)
c.725-7C= (n.725-7C=)
c.635-7C= (n.635-7C=)
n.38-7C=
c.758-7C= (n.758-7C=)
19g.41985193G>TCA2585370647ATP1A3c.764-7C>A (n.764-7C>A)
c.725-7C>A (n.725-7C>A)
c.635-7C>A (n.635-7C>A)
n.38-7C>A
c.758-7C>A (n.758-7C>A)
gnomAD v4
19g.41985194C=CA2336728066ATP1A3c.764-8G= (n.764-8G=)
c.725-8G= (n.725-8G=)
c.635-8G= (n.635-8G=)
n.38-8G=
c.758-8G= (n.758-8G=)
19g.41985194C>GCA996012092ATP1A3c.764-8G>C (n.764-8G>C)
c.725-8G>C (n.725-8G>C)
c.635-8G>C (n.635-8G>C)
n.38-8G>C
c.758-8G>C (n.758-8G>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.41985194C>TCA2336728065ATP1A3c.764-8G>A (n.764-8G>A)
c.725-8G>A (n.725-8G>A)
c.635-8G>A (n.635-8G>A)
n.38-8G>A
c.758-8G>A (n.758-8G>A)
dbSNP
19g.41985196A>TCA2585370648ATP1A3c.764-10T>A (n.764-10T>A)
c.725-10T>A (n.725-10T>A)
c.635-10T>A (n.635-10T>A)
n.38-10T>A
c.758-10T>A (n.758-10T>A)
gnomAD v4
19g.41985199G>ACA2585370649ATP1A3c.764-13C>T (n.764-13C>T)
c.725-13C>T (n.725-13C>T)
c.635-13C>T (n.635-13C>T)
n.38-13C>T
c.758-13C>T (n.758-13C>T)
gnomAD v4
19g.41985200G>ACA2585370651ATP1A3c.764-14C>T (n.764-14C>T)
c.725-14C>T (n.725-14C>T)
c.635-14C>T (n.635-14C>T)
n.38-14C>T
c.758-14C>T (n.758-14C>T)
gnomAD v4
19g.41985200G>TCA2585370650ATP1A3c.764-14C>A (n.764-14C>A)
c.725-14C>A (n.725-14C>A)
c.635-14C>A (n.635-14C>A)
n.38-14C>A
c.758-14C>A (n.758-14C>A)
gnomAD v4

Number of alleles fetched