Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.114679635_114679647delinsCCATCTCGTTAAGCA1190277421AMPD1c.817_829delinsCTTAACGAGATGG (p.Leu273=)
c.829_841delinsCTTAACGAGATGG (p.Leu277=)
c.612_624delinsCTTAACGAGATGG (n.612_624delinsCTTAACGAGATGG)
n.494_506delinsCTTAACGAGATGG
c.916_928delinsCTTAACGAGATGG (p.Leu306=)
c.928_940delinsCTTAACGAGATGG (p.Leu310=)
1g.114679641_114679652delCA525418812AMPD1c.817_828del (p.Leu273_Met276del)
c.829_840del (p.Leu277_Met280del)
c.612_623del (n.612_623del)
n.494_505del
c.916_927del (p.Leu306_Met309del)
c.928_939del (p.Leu310_Met313del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.114679641C>ACA341750112AMPD1c.823G>T (p.Glu275Ter)
c.835G>T (p.Glu279Ter)
c.618G>T (n.618G>T)
n.500G>T
c.922G>T (p.Glu308Ter)
c.934G>T (p.Glu312Ter)
1g.114679641C=CA1190277431AMPD1c.823G= (p.Glu275=)
c.835G= (p.Glu279=)
c.618G= (n.618G=)
n.500G=
c.922G= (p.Glu308=)
c.934G= (p.Glu312=)
1g.114679641C>GCA341750113AMPD1c.823G>C (p.Glu275Gln)
c.835G>C (p.Glu279Gln)
c.618G>C (n.618G>C)
n.500G>C
c.922G>C (p.Glu308Gln)
c.934G>C (p.Glu312Gln)
1g.114679641C>TCA1020294AMPD1c.823G>A (p.Glu275Lys)
c.835G>A (p.Glu279Lys)
c.618G>A (n.618G>A)
n.500G>A
c.922G>A (p.Glu308Lys)
c.934G>A (p.Glu312Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.114679642G>ACA1020295AMPD1c.822C>T (p.Asn274=)
c.834C>T (p.Asn278=)
c.617C>T (n.617C>T)
n.499C>T
c.921C>T (p.Asn307=)
c.933C>T (p.Asn311=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114679642G>CCA341750114AMPD1c.822C>G (p.Asn274Lys)
c.834C>G (p.Asn278Lys)
c.617C>G (n.617C>G)
n.499C>G
c.921C>G (p.Asn307Lys)
c.933C>G (p.Asn311Lys)
 gnomAD v4
1g.114679642G=CA1147175173AMPD1c.822C= (p.Asn274=)
c.834C= (p.Asn278=)
c.617C= (n.617C=)
n.499C=
c.921C= (p.Asn307=)
c.933C= (p.Asn311=)
1g.114679642G>TCA341750115AMPD1c.822C>A (p.Asn274Lys)
c.834C>A (p.Asn278Lys)
c.617C>A (n.617C>A)
n.499C>A
c.921C>A (p.Asn307Lys)
c.933C>A (p.Asn311Lys)
 gnomAD v4
1g.114679643T>ACA341750118AMPD1c.821A>T (p.Asn274Ile)
c.833A>T (p.Asn278Ile)
c.616A>T (n.616A>T)
n.498A>T
c.920A>T (p.Asn307Ile)
c.932A>T (p.Asn311Ile)
1g.114679643T>CCA341750117AMPD1c.821A>G (p.Asn274Ser)
c.833A>G (p.Asn278Ser)
c.616A>G (n.616A>G)
n.498A>G
c.920A>G (p.Asn307Ser)
c.932A>G (p.Asn311Ser)
1g.114679643T>GCA341750116AMPD1c.821A>C (p.Asn274Thr)
c.833A>C (p.Asn278Thr)
c.616A>C (n.616A>C)
n.498A>C
c.920A>C (p.Asn307Thr)
c.932A>C (p.Asn311Thr)
1g.114679644T>ACA341750119AMPD1c.820A>T (p.Asn274Tyr)
c.832A>T (p.Asn278Tyr)
c.615A>T (n.615A>T)
n.497A>T
c.919A>T (p.Asn307Tyr)
c.931A>T (p.Asn311Tyr)
1g.114679644T>CCA341750120AMPD1c.820A>G (p.Asn274Asp)
c.832A>G (p.Asn278Asp)
c.615A>G (n.615A>G)
n.497A>G
c.919A>G (p.Asn307Asp)
c.931A>G (p.Asn311Asp)
1g.114679644T>GCA341750121AMPD1c.820A>C (p.Asn274His)
c.832A>C (p.Asn278His)
c.615A>C (n.615A>C)
n.497A>C
c.919A>C (p.Asn307His)
c.931A>C (p.Asn311His)
1g.114679645A>CCA419883290AMPD1c.819T>G (p.Leu273=)
c.831T>G (p.Leu277=)
c.614T>G (n.614T>G)
n.496T>G
c.918T>G (p.Leu306=)
c.930T>G (p.Leu310=)
1g.114679645A>GCA419883291AMPD1c.819T>C (p.Leu273=)
c.831T>C (p.Leu277=)
c.614T>C (n.614T>C)
n.496T>C
c.918T>C (p.Leu306=)
c.930T>C (p.Leu310=)
1g.114679645A>TCA419883292AMPD1c.819T>A (p.Leu273=)
c.831T>A (p.Leu277=)
c.614T>A (n.614T>A)
n.496T>A
c.918T>A (p.Leu306=)
c.930T>A (p.Leu310=)
1g.114679646A=CA1190277436AMPD1c.818T= (p.Leu273=)
c.830T= (p.Leu277=)
c.613T= (n.613T=)
n.495T=
c.917T= (p.Leu306=)
c.929T= (p.Leu310=)
1g.114679646A>CCA341750122AMPD1c.818T>G (p.Leu273Arg)
c.830T>G (p.Leu277Arg)
c.613T>G (n.613T>G)
n.495T>G
c.917T>G (p.Leu306Arg)
c.929T>G (p.Leu310Arg)
1g.114679646A>GCA341750123AMPD1c.818T>C (p.Leu273Pro)
c.830T>C (p.Leu277Pro)
c.613T>C (n.613T>C)
n.495T>C
c.917T>C (p.Leu306Pro)
c.929T>C (p.Leu310Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.114679646A>TCA341750124AMPD1c.818T>A (p.Leu273His)
c.830T>A (p.Leu277His)
c.613T>A (n.613T>A)
n.495T>A
c.917T>A (p.Leu306His)
c.929T>A (p.Leu310His)
1g.114679647G>ACA341750125AMPD1c.817C>T (p.Leu273Phe)
c.829C>T (p.Leu277Phe)
c.612C>T (n.612C>T)
n.494C>T
c.916C>T (p.Leu306Phe)
c.928C>T (p.Leu310Phe)
 ClinVar dbSNP gnomAD v4
1g.114679647G>CCA341750126AMPD1c.817C>G (p.Leu273Val)
c.829C>G (p.Leu277Val)
c.612C>G (n.612C>G)
n.494C>G
c.916C>G (p.Leu306Val)
c.928C>G (p.Leu310Val)
1g.114679647G>TCA341750127AMPD1c.817C>A (p.Leu273Ile)
c.829C>A (p.Leu277Ile)
c.612C>A (n.612C>A)
n.494C>A
c.916C>A (p.Leu306Ile)
c.928C>A (p.Leu310Ile)
1g.114679648C>ACA341750128AMPD1c.816G>T (p.Met272Ile)
c.828G>T (p.Met276Ile)
c.611G>T (n.611G>T)
n.493G>T
c.915G>T (p.Met305Ile)
c.927G>T (p.Met309Ile)
1g.114679648C>GCA341750129AMPD1c.816G>C (p.Met272Ile)
c.828G>C (p.Met276Ile)
c.611G>C (n.611G>C)
n.493G>C
c.915G>C (p.Met305Ile)
c.927G>C (p.Met309Ile)
1g.114679648C>TCA341750130AMPD1c.816G>A (p.Met272Ile)
c.828G>A (p.Met276Ile)
c.611G>A (n.611G>A)
n.493G>A
c.915G>A (p.Met305Ile)
c.927G>A (p.Met309Ile)
1g.114679649A>CCA341750133AMPD1c.815T>G (p.Met272Arg)
c.827T>G (p.Met276Arg)
c.610T>G (n.610T>G)
n.492T>G
c.914T>G (p.Met305Arg)
c.926T>G (p.Met309Arg)
1g.114679649A>GCA341750132AMPD1c.815T>C (p.Met272Thr)
c.827T>C (p.Met276Thr)
c.610T>C (n.610T>C)
n.492T>C
c.914T>C (p.Met305Thr)
c.926T>C (p.Met309Thr)
 gnomAD v4
1g.114679649A>TCA341750131AMPD1c.815T>A (p.Met272Lys)
c.827T>A (p.Met276Lys)
c.610T>A (n.610T>A)
n.492T>A
c.914T>A (p.Met305Lys)
c.926T>A (p.Met309Lys)
1g.114679650T>ACA341750134AMPD1c.814A>T (p.Met272Leu)
c.826A>T (p.Met276Leu)
c.609A>T (n.609A>T)
n.491A>T
c.913A>T (p.Met305Leu)
c.925A>T (p.Met309Leu)
1g.114679650T>CCA341750135AMPD1c.814A>G (p.Met272Val)
c.826A>G (p.Met276Val)
c.609A>G (n.609A>G)
n.491A>G
c.913A>G (p.Met305Val)
c.925A>G (p.Met309Val)
1g.114679650T>GCA341750136AMPD1c.814A>C (p.Met272Leu)
c.826A>C (p.Met276Leu)
c.609A>C (n.609A>C)
n.491A>C
c.913A>C (p.Met305Leu)
c.925A>C (p.Met309Leu)
1g.114679651C>ACA341750137AMPD1c.813G>T (p.Gln271His)
c.825G>T (p.Gln275His)
c.608G>T (n.608G>T)
n.490G>T
c.912G>T (p.Gln304His)
c.924G>T (p.Gln308His)
1g.114679651C=CA1190277439AMPD1c.813G= (p.Gln271=)
c.825G= (p.Gln275=)
c.608G= (n.608G=)
n.490G=
c.912G= (p.Gln304=)
c.924G= (p.Gln308=)
1g.114679651C>GCA1020296AMPD1c.813G>C (p.Gln271His)
c.825G>C (p.Gln275His)
c.608G>C (n.608G>C)
n.490G>C
c.912G>C (p.Gln304His)
c.924G>C (p.Gln308His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.114679651C>TCA419883293AMPD1c.813G>A (p.Gln271=)
c.825G>A (p.Gln275=)
c.608G>A (n.608G>A)
n.490G>A
c.912G>A (p.Gln304=)
c.924G>A (p.Gln308=)
1g.114679652T>ACA341750138AMPD1c.812A>T (p.Gln271Leu)
c.824A>T (p.Gln275Leu)
c.607A>T (n.607A>T)
n.489A>T
c.911A>T (p.Gln304Leu)
c.923A>T (p.Gln308Leu)
1g.114679652T>CCA341750139AMPD1c.812A>G (p.Gln271Arg)
c.824A>G (p.Gln275Arg)
c.607A>G (n.607A>G)
n.489A>G
c.911A>G (p.Gln304Arg)
c.923A>G (p.Gln308Arg)
1g.114679652T>GCA341750140AMPD1c.812A>C (p.Gln271Pro)
c.824A>C (p.Gln275Pro)
c.607A>C (n.607A>C)
n.489A>C
c.911A>C (p.Gln304Pro)
c.923A>C (p.Gln308Pro)
1g.114679653G>ACA341750141AMPD1c.811C>T (p.Gln271Ter)
c.823C>T (p.Gln275Ter)
c.606C>T (n.606C>T)
n.488C>T
c.910C>T (p.Gln304Ter)
c.922C>T (p.Gln308Ter)
1g.114679653G>CCA341750142AMPD1c.811C>G (p.Gln271Glu)
c.823C>G (p.Gln275Glu)
c.606C>G (n.606C>G)
n.488C>G
c.910C>G (p.Gln304Glu)
c.922C>G (p.Gln308Glu)
1g.114679653G>TCA341750143AMPD1c.811C>A (p.Gln271Lys)
c.823C>A (p.Gln275Lys)
c.606C>A (n.606C>A)
n.488C>A
c.910C>A (p.Gln304Lys)
c.922C>A (p.Gln308Lys)
1g.114679654A>CCA341750144AMPD1c.810T>G (p.His270Gln)
c.822T>G (p.His274Gln)
c.605T>G (n.605T>G)
n.487T>G
c.909T>G (p.His303Gln)
c.921T>G (p.His307Gln)
1g.114679654A>GCA419883294AMPD1c.810T>C (p.His270=)
c.822T>C (p.His274=)
c.605T>C (n.605T>C)
n.487T>C
c.909T>C (p.His303=)
c.921T>C (p.His307=)
1g.114679654A>TCA341750145AMPD1c.810T>A (p.His270Gln)
c.822T>A (p.His274Gln)
c.605T>A (n.605T>A)
n.487T>A
c.909T>A (p.His303Gln)
c.921T>A (p.His307Gln)
1g.114679655T>ACA341750146AMPD1c.809A>T (p.His270Leu)
c.821A>T (p.His274Leu)
c.604A>T (n.604A>T)
n.486A>T
c.908A>T (p.His303Leu)
c.920A>T (p.His307Leu)
1g.114679655T>CCA341750148AMPD1c.809A>G (p.His270Arg)
c.821A>G (p.His274Arg)
c.604A>G (n.604A>G)
n.486A>G
c.908A>G (p.His303Arg)
c.920A>G (p.His307Arg)
 dbSNP gnomAD v4
1g.114679655T>GCA341750147AMPD1c.809A>C (p.His270Pro)
c.821A>C (p.His274Pro)
c.604A>C (n.604A>C)
n.486A>C
c.908A>C (p.His303Pro)
c.920A>C (p.His307Pro)
1g.114679655T=CA1190277441AMPD1c.809A= (p.His270=)
c.821A= (p.His274=)
c.604A= (n.604A=)
n.486A=
c.908A= (p.His303=)
c.920A= (p.His307=)
1g.114679656G>ACA341750149AMPD1c.808C>T (p.His270Tyr)
c.820C>T (p.His274Tyr)
c.603C>T (n.603C>T)
n.485C>T
c.907C>T (p.His303Tyr)
c.919C>T (p.His307Tyr)
1g.114679656G>CCA341750150AMPD1c.808C>G (p.His270Asp)
c.820C>G (p.His274Asp)
c.603C>G (n.603C>G)
n.485C>G
c.907C>G (p.His303Asp)
c.919C>G (p.His307Asp)
 gnomAD v4
1g.114679656G>TCA341750151AMPD1c.808C>A (p.His270Asn)
c.820C>A (p.His274Asn)
c.603C>A (n.603C>A)
n.485C>A
c.907C>A (p.His303Asn)
c.919C>A (p.His307Asn)
1g.114679657G>ACA419883295AMPD1c.807C>T (p.Val269=)
c.819C>T (p.Val273=)
c.602C>T (n.602C>T)
n.484C>T
c.906C>T (p.Val302=)
c.918C>T (p.Val306=)
 dbSNP gnomAD v4
1g.114679657G>CCA419883296AMPD1c.807C>G (p.Val269=)
c.819C>G (p.Val273=)
c.602C>G (n.602C>G)
n.484C>G
c.906C>G (p.Val302=)
c.918C>G (p.Val306=)
1g.114679657G=CA1190277442AMPD1c.807C= (p.Val269=)
c.819C= (p.Val273=)
c.602C= (n.602C=)
n.484C=
c.906C= (p.Val302=)
c.918C= (p.Val306=)
1g.114679657G>TCA419883297AMPD1c.807C>A (p.Val269=)
c.819C>A (p.Val273=)
c.602C>A (n.602C>A)
n.484C>A
c.906C>A (p.Val302=)
c.918C>A (p.Val306=)
1g.114679658A>CCA341750152AMPD1c.806T>G (p.Val269Gly)
c.818T>G (p.Val273Gly)
c.601T>G (n.601T>G)
n.483T>G
c.905T>G (p.Val302Gly)
c.917T>G (p.Val306Gly)
1g.114679658A>GCA341750153AMPD1c.806T>C (p.Val269Ala)
c.818T>C (p.Val273Ala)
c.601T>C (n.601T>C)
n.483T>C
c.905T>C (p.Val302Ala)
c.917T>C (p.Val306Ala)
1g.114679658A>TCA341750154AMPD1c.806T>A (p.Val269Asp)
c.818T>A (p.Val273Asp)
c.601T>A (n.601T>A)
n.483T>A
c.905T>A (p.Val302Asp)
c.917T>A (p.Val306Asp)
1g.114679659C>ACA1020297AMPD1c.805G>T (p.Val269Phe)
c.817G>T (p.Val273Phe)
c.600G>T (n.600G>T)
n.482G>T
c.904G>T (p.Val302Phe)
c.916G>T (p.Val306Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114679659C=CA1143820732AMPD1c.805G= (p.Val269=)
c.817G= (p.Val273=)
c.600G= (n.600G=)
n.482G=
c.904G= (p.Val302=)
c.916G= (p.Val306=)
1g.114679659C>GCA341750155AMPD1c.805G>C (p.Val269Leu)
c.817G>C (p.Val273Leu)
c.600G>C (n.600G>C)
n.482G>C
c.904G>C (p.Val302Leu)
c.916G>C (p.Val306Leu)
1g.114679659C>TCA341750156AMPD1c.805G>A (p.Val269Ile)
c.817G>A (p.Val273Ile)
c.600G>A (n.600G>A)
n.482G>A
c.904G>A (p.Val302Ile)
c.916G>A (p.Val306Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.114679660C>ACA341750157AMPD1c.804G>T (p.Gln268His)
c.816G>T (p.Gln272His)
c.599G>T (n.599G>T)
n.481G>T
c.903G>T (p.Gln301His)
c.915G>T (p.Gln305His)
1g.114679660C>GCA341750158AMPD1c.804G>C (p.Gln268His)
c.816G>C (p.Gln272His)
c.599G>C (n.599G>C)
n.481G>C
c.903G>C (p.Gln301His)
c.915G>C (p.Gln305His)
1g.114679660C>TCA419883298AMPD1c.804G>A (p.Gln268=)
c.816G>A (p.Gln272=)
c.599G>A (n.599G>A)
n.481G>A
c.903G>A (p.Gln301=)
c.915G>A (p.Gln305=)
1g.114679661T>ACA341750160AMPD1c.803A>T (p.Gln268Leu)
c.815A>T (p.Gln272Leu)
c.598A>T (n.598A>T)
n.480A>T
c.902A>T (p.Gln301Leu)
c.914A>T (p.Gln305Leu)
1g.114679661T>CCA341750161AMPD1c.803A>G (p.Gln268Arg)
c.815A>G (p.Gln272Arg)
c.598A>G (n.598A>G)
n.480A>G
c.902A>G (p.Gln301Arg)
c.914A>G (p.Gln305Arg)
1g.114679661T>GCA341750159AMPD1c.803A>C (p.Gln268Pro)
c.815A>C (p.Gln272Pro)
c.598A>C (n.598A>C)
n.480A>C
c.902A>C (p.Gln301Pro)
c.914A>C (p.Gln305Pro)
 dbSNP
1g.114679661T=CA1190277448AMPD1c.803A= (p.Gln268=)
c.815A= (p.Gln272=)
c.598A= (n.598A=)
n.480A=
c.902A= (p.Gln301=)
c.914A= (p.Gln305=)
1g.114679662G>ACA341750162AMPD1c.802C>T (p.Gln268Ter)
c.814C>T (p.Gln272Ter)
c.597C>T (n.597C>T)
n.479C>T
c.901C>T (p.Gln301Ter)
c.913C>T (p.Gln305Ter)
1g.114679662G>CCA341750163AMPD1c.802C>G (p.Gln268Glu)
c.814C>G (p.Gln272Glu)
c.597C>G (n.597C>G)
n.479C>G
c.901C>G (p.Gln301Glu)
c.913C>G (p.Gln305Glu)
1g.114679662G>TCA341750164AMPD1c.802C>A (p.Gln268Lys)
c.814C>A (p.Gln272Lys)
c.597C>A (n.597C>A)
n.479C>A
c.901C>A (p.Gln301Lys)
c.913C>A (p.Gln305Lys)
1g.114679663G>ACA419883299AMPD1c.801C>T (p.Phe267=)
c.813C>T (p.Phe271=)
c.596C>T (n.596C>T)
n.478C>T
c.900C>T (p.Phe300=)
c.912C>T (p.Phe304=)
1g.114679663G>CCA341750165AMPD1c.801C>G (p.Phe267Leu)
c.813C>G (p.Phe271Leu)
c.596C>G (n.596C>G)
n.478C>G
c.900C>G (p.Phe300Leu)
c.912C>G (p.Phe304Leu)
1g.114679663G>TCA341750166AMPD1c.801C>A (p.Phe267Leu)
c.813C>A (p.Phe271Leu)
c.596C>A (n.596C>A)
n.478C>A
c.900C>A (p.Phe300Leu)
c.912C>A (p.Phe304Leu)
 gnomAD v4
1g.114679664A>CCA341750167AMPD1c.800T>G (p.Phe267Cys)
c.812T>G (p.Phe271Cys)
c.595T>G (n.595T>G)
n.477T>G
c.899T>G (p.Phe300Cys)
c.911T>G (p.Phe304Cys)
1g.114679664A>GCA341750168AMPD1c.800T>C (p.Phe267Ser)
c.812T>C (p.Phe271Ser)
c.595T>C (n.595T>C)
n.477T>C
c.899T>C (p.Phe300Ser)
c.911T>C (p.Phe304Ser)
1g.114679664A>TCA341750169AMPD1c.800T>A (p.Phe267Tyr)
c.812T>A (p.Phe271Tyr)
c.595T>A (n.595T>A)
n.477T>A
c.899T>A (p.Phe300Tyr)
c.911T>A (p.Phe304Tyr)
1g.114679665A=CA1190277450AMPD1c.799T= (p.Phe267=)
c.811T= (p.Phe271=)
c.594T= (n.594T=)
n.476T=
c.898T= (p.Phe300=)
c.910T= (p.Phe304=)
1g.114679665A>CCA341750170AMPD1c.799T>G (p.Phe267Val)
c.811T>G (p.Phe271Val)
c.594T>G (n.594T>G)
n.476T>G
c.898T>G (p.Phe300Val)
c.910T>G (p.Phe304Val)
1g.114679665A>GCA1020298AMPD1c.799T>C (p.Phe267Leu)
c.811T>C (p.Phe271Leu)
c.594T>C (n.594T>C)
n.476T>C
c.898T>C (p.Phe300Leu)
c.910T>C (p.Phe304Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.114679665A>TCA341750171AMPD1c.799T>A (p.Phe267Ile)
c.811T>A (p.Phe271Ile)
c.594T>A (n.594T>A)
n.476T>A
c.898T>A (p.Phe300Ile)
c.910T>A (p.Phe304Ile)
1g.114679666C>ACA341750172AMPD1c.798G>T (p.Lys266Asn)
c.810G>T (p.Lys270Asn)
c.593G>T (n.593G>T)
n.475G>T
c.897G>T (p.Lys299Asn)
c.909G>T (p.Lys303Asn)
 gnomAD v4
1g.114679666C>GCA341750173AMPD1c.798G>C (p.Lys266Asn)
c.810G>C (p.Lys270Asn)
c.593G>C (n.593G>C)
n.475G>C
c.897G>C (p.Lys299Asn)
c.909G>C (p.Lys303Asn)
1g.114679666C>TCA419883300AMPD1c.798G>A (p.Lys266=)
c.810G>A (p.Lys270=)
c.593G>A (n.593G>A)
n.475G>A
c.897G>A (p.Lys299=)
c.909G>A (p.Lys303=)
 ClinVar
1g.114679667T>ACA341750176AMPD1c.797A>T (p.Lys266Met)
c.809A>T (p.Lys270Met)
c.592A>T (n.592A>T)
n.474A>T
c.896A>T (p.Lys299Met)
c.908A>T (p.Lys303Met)
1g.114679667T>CCA341750175AMPD1c.797A>G (p.Lys266Arg)
c.809A>G (p.Lys270Arg)
c.592A>G (n.592A>G)
n.474A>G
c.896A>G (p.Lys299Arg)
c.908A>G (p.Lys303Arg)
 dbSNP gnomAD v4
1g.114679667T>GCA341750174AMPD1c.797A>C (p.Lys266Thr)
c.809A>C (p.Lys270Thr)
c.592A>C (n.592A>C)
n.474A>C
c.896A>C (p.Lys299Thr)
c.908A>C (p.Lys303Thr)
1g.114679667T=CA1190277453AMPD1c.797A= (p.Lys266=)
c.809A= (p.Lys270=)
c.592A= (n.592A=)
n.474A=
c.896A= (p.Lys299=)
c.908A= (p.Lys303=)
1g.114679668T>ACA341750177AMPD1c.796A>T (p.Lys266Ter)
c.808A>T (p.Lys270Ter)
c.591A>T (n.591A>T)
n.473A>T
c.895A>T (p.Lys299Ter)
c.907A>T (p.Lys303Ter)
1g.114679668T>CCA341750178AMPD1c.796A>G (p.Lys266Glu)
c.808A>G (p.Lys270Glu)
c.591A>G (n.591A>G)
n.473A>G
c.895A>G (p.Lys299Glu)
c.907A>G (p.Lys303Glu)
1g.114679668T>GCA341750179AMPD1c.796A>C (p.Lys266Gln)
c.808A>C (p.Lys270Gln)
c.591A>C (n.591A>C)
n.473A>C
c.895A>C (p.Lys299Gln)
c.907A>C (p.Lys303Gln)
1g.114679668_114679671delinsTGGACA1190277454AMPD1c.793_796delinsTCCA (p.Ser265=)
c.805_808delinsTCCA (p.Ser269=)
c.588_591delinsTCCA (n.588_591delinsTCCA)
n.470_473delinsTCCA
c.892_895delinsTCCA (p.Ser298=)
c.904_907delinsTCCA (p.Ser302=)
1g.114679669G>ACA419883302AMPD1c.795C>T (p.Ser265=)
c.807C>T (p.Ser269=)
c.590C>T (n.590C>T)
n.472C>T
c.894C>T (p.Ser298=)
c.906C>T (p.Ser302=)
1g.114679669G>CCA29056795AMPD1c.795C>G (p.Ser265=)
c.807C>G (p.Ser269=)
c.590C>G (n.590C>G)
n.472C>G
c.894C>G (p.Ser298=)
c.906C>G (p.Ser302=)
 dbSNP
1g.114679669G=CA1139843170AMPD1c.795C= (p.Ser265=)
c.807C= (p.Ser269=)
c.590C= (n.590C=)
n.472C=
c.894C= (p.Ser298=)
c.906C= (p.Ser302=)
1g.114679669G>TCA419883301AMPD1c.795C>A (p.Ser265=)
c.807C>A (p.Ser269=)
c.590C>A (n.590C>A)
n.472C>A
c.894C>A (p.Ser298=)
c.906C>A (p.Ser302=)
 dbSNP
1g.114679673_114679675delCA1020299AMPD1c.793_795del (p.Ser265del)
c.805_807del (p.Ser269del)
c.588_590del (n.588_590del)
n.470_472del
c.892_894del (p.Ser298del)
c.904_906del (p.Ser302del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.114679670G>ACA341750180AMPD1c.794C>T (p.Ser265Phe)
c.806C>T (p.Ser269Phe)
c.589C>T (n.589C>T)
n.471C>T
c.893C>T (p.Ser298Phe)
c.905C>T (p.Ser302Phe)
 COSMIC COSMIC
1g.114679670G>CCA341750181AMPD1c.794C>G (p.Ser265Cys)
c.806C>G (p.Ser269Cys)
c.589C>G (n.589C>G)
n.471C>G
c.893C>G (p.Ser298Cys)
c.905C>G (p.Ser302Cys)
1g.114679670G>TCA341750182AMPD1c.794C>A (p.Ser265Tyr)
c.806C>A (p.Ser269Tyr)
c.589C>A (n.589C>A)
n.471C>A
c.893C>A (p.Ser298Tyr)
c.905C>A (p.Ser302Tyr)
1g.114679671A>CCA341750183AMPD1c.793T>G (p.Ser265Ala)
c.805T>G (p.Ser269Ala)
c.588T>G (n.588T>G)
n.470T>G
c.892T>G (p.Ser298Ala)
c.904T>G (p.Ser302Ala)
1g.114679671A>GCA341750184AMPD1c.793T>C (p.Ser265Pro)
c.805T>C (p.Ser269Pro)
c.588T>C (n.588T>C)
n.470T>C
c.892T>C (p.Ser298Pro)
c.904T>C (p.Ser302Pro)
1g.114679671A>TCA341750185AMPD1c.793T>A (p.Ser265Thr)
c.805T>A (p.Ser269Thr)
c.588T>A (n.588T>A)
n.470T>A
c.892T>A (p.Ser298Thr)
c.904T>A (p.Ser302Thr)
1g.114679672G>ACA419883303AMPD1c.792C>T (p.Ser264=)
c.804C>T (p.Ser268=)
c.587C>T (n.587C>T)
n.469C>T
c.891C>T (p.Ser297=)
c.903C>T (p.Ser301=)
 dbSNP gnomAD v3 gnomAD v4
1g.114679672G>CCA419883304AMPD1c.792C>G (p.Ser264=)
c.804C>G (p.Ser268=)
c.587C>G (n.587C>G)
n.469C>G
c.891C>G (p.Ser297=)
c.903C>G (p.Ser301=)
1g.114679672G=CA1190277459AMPD1c.792C= (p.Ser264=)
c.804C= (p.Ser268=)
c.587C= (n.587C=)
n.469C=
c.891C= (p.Ser297=)
c.903C= (p.Ser301=)
1g.114679672G>TCA419883305AMPD1c.792C>A (p.Ser264=)
c.804C>A (p.Ser268=)
c.587C>A (n.587C>A)
n.469C>A
c.891C>A (p.Ser297=)
c.903C>A (p.Ser301=)
1g.114679673G>ACA341750186AMPD1c.791C>T (p.Ser264Phe)
c.803C>T (p.Ser268Phe)
c.586C>T (n.586C>T)
n.468C>T
c.890C>T (p.Ser297Phe)
c.902C>T (p.Ser301Phe)
1g.114679673G>CCA341750187AMPD1c.791C>G (p.Ser264Cys)
c.803C>G (p.Ser268Cys)
c.586C>G (n.586C>G)
n.468C>G
c.890C>G (p.Ser297Cys)
c.902C>G (p.Ser301Cys)
1g.114679673G>TCA341750188AMPD1c.791C>A (p.Ser264Tyr)
c.803C>A (p.Ser268Tyr)
c.586C>A (n.586C>A)
n.468C>A
c.890C>A (p.Ser297Tyr)
c.902C>A (p.Ser301Tyr)
1g.114679674A>CCA341750190AMPD1c.790T>G (p.Ser264Ala)
c.802T>G (p.Ser268Ala)
c.585T>G (n.585T>G)
n.467T>G
c.889T>G (p.Ser297Ala)
c.901T>G (p.Ser301Ala)
1g.114679674A>GCA341750191AMPD1c.790T>C (p.Ser264Pro)
c.802T>C (p.Ser268Pro)
c.585T>C (n.585T>C)
n.467T>C
c.889T>C (p.Ser297Pro)
c.901T>C (p.Ser301Pro)
 ClinVar
1g.114679674A>TCA341750189AMPD1c.790T>A (p.Ser264Thr)
c.802T>A (p.Ser268Thr)
c.585T>A (n.585T>A)
n.467T>A
c.889T>A (p.Ser297Thr)
c.901T>A (p.Ser301Thr)
1g.114679675G>ACA419883306AMPD1c.789C>T (p.Leu263=)
c.801C>T (p.Leu267=)
c.584C>T (n.584C>T)
n.466C>T
c.888C>T (p.Leu296=)
c.900C>T (p.Leu300=)
1g.114679675G>CCA1020300AMPD1c.789C>G (p.Leu263=)
c.801C>G (p.Leu267=)
c.584C>G (n.584C>G)
n.466C>G
c.888C>G (p.Leu296=)
c.900C>G (p.Leu300=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114679675G=CA1144903799AMPD1c.789C= (p.Leu263=)
c.801C= (p.Leu267=)
c.584C= (n.584C=)
n.466C=
c.888C= (p.Leu296=)
c.900C= (p.Leu300=)
1g.114679675G>TCA419883307AMPD1c.789C>A (p.Leu263=)
c.801C>A (p.Leu267=)
c.584C>A (n.584C>A)
n.466C>A
c.888C>A (p.Leu296=)
c.900C>A (p.Leu300=)
1g.114679676A=CA1190277463AMPD1c.788T= (p.Leu263=)
c.800T= (p.Leu267=)
c.583T= (n.583T=)
n.465T=
c.887T= (p.Leu296=)
c.899T= (p.Leu300=)
1g.114679676A>CCA341750192AMPD1c.788T>G (p.Leu263Arg)
c.800T>G (p.Leu267Arg)
c.583T>G (n.583T>G)
n.465T>G
c.887T>G (p.Leu296Arg)
c.899T>G (p.Leu300Arg)
1g.114679676A>GCA341750193AMPD1c.788T>C (p.Leu263Pro)
c.800T>C (p.Leu267Pro)
c.583T>C (n.583T>C)
n.465T>C
c.887T>C (p.Leu296Pro)
c.899T>C (p.Leu300Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.114679676A>TCA341750194AMPD1c.788T>A (p.Leu263His)
c.800T>A (p.Leu267His)
c.583T>A (n.583T>A)
n.465T>A
c.887T>A (p.Leu296His)
c.899T>A (p.Leu300His)
1g.114679677G>ACA341750195AMPD1c.787C>T (p.Leu263Phe)
c.799C>T (p.Leu267Phe)
c.582C>T (n.582C>T)
n.464C>T
c.886C>T (p.Leu296Phe)
c.898C>T (p.Leu300Phe)
 gnomAD v4
1g.114679677G>CCA341750196AMPD1c.787C>G (p.Leu263Val)
c.799C>G (p.Leu267Val)
c.582C>G (n.582C>G)
n.464C>G
c.886C>G (p.Leu296Val)
c.898C>G (p.Leu300Val)
1g.114679677G>TCA341750197AMPD1c.787C>A (p.Leu263Ile)
c.799C>A (p.Leu267Ile)
c.582C>A (n.582C>A)
n.464C>A
c.886C>A (p.Leu296Ile)
c.898C>A (p.Leu300Ile)
1g.114679678G>ACA419883308AMPD1c.786C>T (p.Phe262=)
c.798C>T (p.Phe266=)
c.581C>T (n.581C>T)
n.463C>T
c.885C>T (p.Phe295=)
c.897C>T (p.Phe299=)
 dbSNP gnomAD v4
1g.114679678G>CCA341750198AMPD1c.786C>G (p.Phe262Leu)
c.798C>G (p.Phe266Leu)
c.581C>G (n.581C>G)
n.463C>G
c.885C>G (p.Phe295Leu)
c.897C>G (p.Phe299Leu)
1g.114679678G=CA1190277465AMPD1c.786C= (p.Phe262=)
c.798C= (p.Phe266=)
c.581C= (n.581C=)
n.463C=
c.885C= (p.Phe295=)
c.897C= (p.Phe299=)
1g.114679678G>TCA341750199AMPD1c.786C>A (p.Phe262Leu)
c.798C>A (p.Phe266Leu)
c.581C>A (n.581C>A)
n.463C>A
c.885C>A (p.Phe295Leu)
c.897C>A (p.Phe299Leu)
1g.114679679A>CCA341750200AMPD1c.785T>G (p.Phe262Cys)
c.797T>G (p.Phe266Cys)
c.580T>G (n.580T>G)
n.462T>G
c.884T>G (p.Phe295Cys)
c.896T>G (p.Phe299Cys)
1g.114679679A>GCA341750201AMPD1c.785T>C (p.Phe262Ser)
c.797T>C (p.Phe266Ser)
c.580T>C (n.580T>C)
n.462T>C
c.884T>C (p.Phe295Ser)
c.896T>C (p.Phe299Ser)
1g.114679679A>TCA341750202AMPD1c.785T>A (p.Phe262Tyr)
c.797T>A (p.Phe266Tyr)
c.580T>A (n.580T>A)
n.462T>A
c.884T>A (p.Phe295Tyr)
c.896T>A (p.Phe299Tyr)
1g.114679680A>CCA341750204AMPD1c.784T>G (p.Phe262Val)
c.796T>G (p.Phe266Val)
c.579T>G (n.579T>G)
n.461T>G
c.883T>G (p.Phe295Val)
c.895T>G (p.Phe299Val)
1g.114679680A>GCA341750205AMPD1c.784T>C (p.Phe262Leu)
c.796T>C (p.Phe266Leu)
c.579T>C (n.579T>C)
n.461T>C
c.883T>C (p.Phe295Leu)
c.895T>C (p.Phe299Leu)
1g.114679680A>TCA341750203AMPD1c.784T>A (p.Phe262Ile)
c.796T>A (p.Phe266Ile)
c.579T>A (n.579T>A)
n.461T>A
c.883T>A (p.Phe295Ile)
c.895T>A (p.Phe299Ile)
1g.114679681C>ACA341750206AMPD1c.783G>T (p.Lys261Asn)
c.795G>T (p.Lys265Asn)
c.578G>T (n.578G>T)
n.460G>T
c.882G>T (p.Lys294Asn)
c.894G>T (p.Lys298Asn)
 gnomAD v4
1g.114679681C>GCA341750207AMPD1c.783G>C (p.Lys261Asn)
c.795G>C (p.Lys265Asn)
c.578G>C (n.578G>C)
n.460G>C
c.882G>C (p.Lys294Asn)
c.894G>C (p.Lys298Asn)
1g.114679681C>TCA419883309AMPD1c.783G>A (p.Lys261=)
c.795G>A (p.Lys265=)
c.578G>A (n.578G>A)
n.460G>A
c.882G>A (p.Lys294=)
c.894G>A (p.Lys298=)
1g.114679682T>ACA341750208AMPD1c.782A>T (p.Lys261Met)
c.794A>T (p.Lys265Met)
c.577A>T (n.577A>T)
n.459A>T
c.881A>T (p.Lys294Met)
c.893A>T (p.Lys298Met)
1g.114679682T>CCA341750209AMPD1c.782A>G (p.Lys261Arg)
c.794A>G (p.Lys265Arg)
c.577A>G (n.577A>G)
n.459A>G
c.881A>G (p.Lys294Arg)
c.893A>G (p.Lys298Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.114679682T>GCA341750210AMPD1c.782A>C (p.Lys261Thr)
c.794A>C (p.Lys265Thr)
c.577A>C (n.577A>C)
n.459A>C
c.881A>C (p.Lys294Thr)
c.893A>C (p.Lys298Thr)
1g.114679682T=CA1190277467AMPD1c.782A= (p.Lys261=)
c.794A= (p.Lys265=)
c.577A= (n.577A=)
n.459A=
c.881A= (p.Lys294=)
c.893A= (p.Lys298=)
1g.114679683T>ACA341750212AMPD1c.781A>T (p.Lys261Ter)
c.793A>T (p.Lys265Ter)
c.576A>T (p.Ter192Cys)
n.458A>T
c.880A>T (p.Lys294Ter)
c.892A>T (p.Lys298Ter)
1g.114679683T>CCA10606652AMPD1c.781A>G (p.Lys261Glu)
c.793A>G (p.Lys265Glu)
c.576A>G (p.Ter192Trp)
n.458A>G
c.880A>G (p.Lys294Glu)
c.892A>G (p.Lys298Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.114679683T>GCA341750211AMPD1c.781A>C (p.Lys261Gln)
c.793A>C (p.Lys265Gln)
c.576A>C (p.Ter192Cys)
n.458A>C
c.880A>C (p.Lys294Gln)
c.892A>C (p.Lys298Gln)
1g.114679683T=CA1190277468AMPD1c.781A= (p.Lys261=)
c.793A= (p.Lys265=)
c.576A= (p.Ter192=)
n.458A=
c.880A= (p.Lys294=)
c.892A= (p.Lys298=)
1g.114679684C>ACA419883310AMPD1c.780G>T (p.Leu260=)
c.792G>T (p.Leu264=)
c.575G>T (p.Ter192Leu)
n.457G>T
c.879G>T (p.Leu293=)
c.891G>T (p.Leu297=)
 gnomAD v4
1g.114679684C>GCA419883311AMPD1c.780G>C (p.Leu260=)
c.792G>C (p.Leu264=)
c.575G>C (p.Ter192Ser)
n.457G>C
c.879G>C (p.Leu293=)
c.891G>C (p.Leu297=)
1g.114679684C>TCA419883312AMPD1c.780G>A (p.Leu260=)
c.792G>A (p.Leu264=)
c.575G>A (p.Ter192=)
n.457G>A
c.879G>A (p.Leu293=)
c.891G>A (p.Leu297=)
1g.114679685A>CCA341750213AMPD1c.779T>G (p.Leu260Arg)
c.791T>G (p.Leu264Arg)
c.574T>G (p.Ter192Gly)
n.456T>G
c.878T>G (p.Leu293Arg)
c.890T>G (p.Leu297Arg)
1g.114679685A>GCA341750214AMPD1c.779T>C (p.Leu260Pro)
c.791T>C (p.Leu264Pro)
c.574T>C (p.Ter192Arg)
n.456T>C
c.878T>C (p.Leu293Pro)
c.890T>C (p.Leu297Pro)
 ClinVar gnomAD v4
1g.114679685A>TCA341750215AMPD1c.779T>A (p.Leu260Gln)
c.791T>A (p.Leu264Gln)
c.574T>A (p.Ter192Arg)
n.456T>A
c.878T>A (p.Leu293Gln)
c.890T>A (p.Leu297Gln)
1g.114679686G>ACA419883313AMPD1c.778C>T (p.Leu260=)
c.790C>T (p.Leu264=)
c.573C>T (p.Ala191=)
n.455C>T
c.877C>T (p.Leu293=)
c.889C>T (p.Leu297=)
1g.114679686G>CCA341750216AMPD1c.778C>G (p.Leu260Val)
c.790C>G (p.Leu264Val)
c.573C>G (p.Ala191=)
n.455C>G
c.877C>G (p.Leu293Val)
c.889C>G (p.Leu297Val)
1g.114679686G>TCA341750217AMPD1c.778C>A (p.Leu260Met)
c.790C>A (p.Leu264Met)
c.573C>A (p.Ala191=)
n.455C>A
c.877C>A (p.Leu293Met)
c.889C>A (p.Leu297Met)
1g.114679687G>ACA419883314AMPD1c.777C>T (p.Arg259=)
c.789C>T (p.Arg263=)
c.572C>T (p.Ala191Val)
n.454C>T
c.876C>T (p.Arg292=)
c.888C>T (p.Arg296=)
1g.114679687G>CCA419883315AMPD1c.777C>G (p.Arg259=)
c.789C>G (p.Arg263=)
c.572C>G (p.Ala191Gly)
n.454C>G
c.876C>G (p.Arg292=)
c.888C>G (p.Arg296=)
1g.114679687G>TCA419883316AMPD1c.777C>A (p.Arg259=)
c.789C>A (p.Arg263=)
c.572C>A (p.Ala191Asp)
n.454C>A
c.876C>A (p.Arg292=)
c.888C>A (p.Arg296=)
1g.114679688C>ACA341750219AMPD1c.776G>T (p.Arg259Leu)
c.788G>T (p.Arg263Leu)
c.571G>T (p.Ala191Ser)
n.453G>T
c.875G>T (p.Arg292Leu)
c.887G>T (p.Arg296Leu)
 gnomAD v4
1g.114679688C=CA1190277469AMPD1c.776G= (p.Arg259=)
c.788G= (p.Arg263=)
c.571G= (p.Ala191=)
n.453G=
c.875G= (p.Arg292=)
c.887G= (p.Arg296=)
1g.114679688C>GCA341750218AMPD1c.776G>C (p.Arg259Pro)
c.788G>C (p.Arg263Pro)
c.571G>C (p.Ala191Pro)
n.453G>C
c.875G>C (p.Arg292Pro)
c.887G>C (p.Arg296Pro)
1g.114679688C>TCA1020301AMPD1c.776G>A (p.Arg259His)
c.788G>A (p.Arg263His)
c.571G>A (p.Ala191Thr)
n.453G>A
c.875G>A (p.Arg292His)
c.887G>A (p.Arg296His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114679689G>ACA1020302AMPD1c.775C>T (p.Arg259Cys)
c.787C>T (p.Arg263Cys)
c.570C>T (p.Gly190=)
n.452C>T
c.874C>T (p.Arg292Cys)
n.441C>T
c.886C>T (p.Arg296Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.114679689G>CCA341750221AMPD1c.775C>G (p.Arg259Gly)
c.787C>G (p.Arg263Gly)
c.570C>G (p.Gly190=)
n.452C>G
c.874C>G (p.Arg292Gly)
n.441C>G
c.886C>G (p.Arg296Gly)
1g.114679689G=CA1141653521AMPD1c.775C= (p.Arg259=)
c.787C= (p.Arg263=)
c.570C= (p.Gly190=)
n.452C=
c.874C= (p.Arg292=)
n.441C=
c.886C= (p.Arg296=)
1g.114679689G>TCA341750220AMPD1c.775C>A (p.Arg259Ser)
c.787C>A (p.Arg263Ser)
c.570C>A (p.Gly190=)
n.452C>A
c.874C>A (p.Arg292Ser)
n.441C>A
c.886C>A (p.Arg296Ser)
 dbSNP
1g.114679690C>ACA419883317AMPD1c.774G>T (p.Arg258=)
c.786G>T (p.Arg262=)
c.569G>T (p.Gly190Val)
n.451G>T
c.873G>T (p.Arg291=)
n.440G>T
c.885G>T (p.Arg295=)
1g.114679690C=CA1145765089AMPD1c.774G= (p.Arg258=)
c.786G= (p.Arg262=)
c.569G= (p.Gly190=)
n.451G=
c.873G= (p.Arg291=)
n.440G=
c.885G= (p.Arg295=)
1g.114679690C>GCA419883318AMPD1c.774G>C (p.Arg258=)
c.786G>C (p.Arg262=)
c.569G>C (p.Gly190Ala)
n.451G>C
c.873G>C (p.Arg291=)
n.440G>C
c.885G>C (p.Arg295=)
1g.114679690C>TCA29056811AMPD1c.774G>A (p.Arg258=)
c.786G>A (p.Arg262=)
c.569G>A (p.Gly190Asp)
n.451G>A
c.873G>A (p.Arg291=)
n.440G>A
c.885G>A (p.Arg295=)
 dbSNP gnomAD v3 gnomAD v4
1g.114679691C>ACA341750223AMPD1c.773G>T (p.Arg258Leu)
c.785G>T (p.Arg262Leu)
c.568G>T (p.Gly190Cys)
n.450G>T
c.872G>T (p.Arg291Leu)
n.439G>T
c.884G>T (p.Arg295Leu)
1g.114679691C=CA1190277473AMPD1c.773G= (p.Arg258=)
c.785G= (p.Arg262=)
c.568G= (p.Gly190=)
n.450G=
c.872G= (p.Arg291=)
n.439G=
c.884G= (p.Arg295=)
1g.114679691C>GCA341750222AMPD1c.773G>C (p.Arg258Pro)
c.785G>C (p.Arg262Pro)
c.568G>C (p.Gly190Arg)
n.450G>C
c.872G>C (p.Arg291Pro)
n.439G>C
c.884G>C (p.Arg295Pro)
1g.114679691C>TCA1020303AMPD1c.773G>A (p.Arg258Gln)
c.785G>A (p.Arg262Gln)
c.568G>A (p.Gly190Ser)
n.450G>A
c.872G>A (p.Arg291Gln)
n.439G>A
c.884G>A (p.Arg295Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114679692G>ACA1020304AMPD1c.772C>T (p.Arg258Trp)
c.784C>T (p.Arg262Trp)
c.567C>T (p.Thr189=)
n.449C>T
c.871C>T (p.Arg291Trp)
n.438C>T
c.883C>T (p.Arg295Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114679692G>CCA341750224AMPD1c.772C>G (p.Arg258Gly)
c.784C>G (p.Arg262Gly)
c.567C>G (p.Thr189=)
n.449C>G
c.871C>G (p.Arg291Gly)
n.438C>G
c.883C>G (p.Arg295Gly)
1g.114679692G=CA1190277474AMPD1c.772C= (p.Arg258=)
c.784C= (p.Arg262=)
c.567C= (p.Thr189=)
n.449C=
c.871C= (p.Arg291=)
n.438C=
c.883C= (p.Arg295=)
1g.114679692G>TCA419883319AMPD1c.772C>A (p.Arg258=)
c.784C>A (p.Arg262=)
c.567C>A (p.Thr189=)
n.449C>A
c.871C>A (p.Arg291=)
n.438C>A
c.883C>A (p.Arg295=)
1g.114679693G>ACA419883320AMPD1c.771C>T (p.His257=)
c.783C>T (p.His261=)
c.566C>T (p.Thr189Ile)
n.448C>T
c.870C>T (p.His290=)
n.437C>T
c.882C>T (p.His294=)
 gnomAD v4
1g.114679693G>CCA341750225AMPD1c.771C>G (p.His257Gln)
c.783C>G (p.His261Gln)
c.566C>G (p.Thr189Ser)
n.448C>G
c.870C>G (p.His290Gln)
n.437C>G
c.882C>G (p.His294Gln)
1g.114679693G>TCA341750226AMPD1c.771C>A (p.His257Gln)
c.783C>A (p.His261Gln)
c.566C>A (p.Thr189Asn)
n.448C>A
c.870C>A (p.His290Gln)
n.437C>A
c.882C>A (p.His294Gln)
1g.114679694T>ACA341750228AMPD1c.770A>T (p.His257Leu)
c.782A>T (p.His261Leu)
c.565A>T (p.Thr189Ser)
n.447A>T
c.869A>T (p.His290Leu)
n.436A>T
c.881A>T (p.His294Leu)
1g.114679694T>CCA29056815AMPD1c.770A>G (p.His257Arg)
c.782A>G (p.His261Arg)
c.565A>G (p.Thr189Ala)
n.447A>G
c.869A>G (p.His290Arg)
n.436A>G
c.881A>G (p.His294Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.114679694T>GCA341750227AMPD1c.770A>C (p.His257Pro)
c.782A>C (p.His261Pro)
c.565A>C (p.Thr189Pro)
n.447A>C
c.869A>C (p.His290Pro)
n.436A>C
c.881A>C (p.His294Pro)
1g.114679694T=CA1146301986AMPD1c.770A= (p.His257=)
c.782A= (p.His261=)
c.565A= (p.Thr189=)
n.447A=
c.869A= (p.His290=)
n.436A=
c.881A= (p.His294=)
1g.114679694_114679695delinsTGCA1190277477AMPD1c.769_770delinsCA (p.His257=)
c.781_782delinsCA (p.His261=)
c.564_565delinsCA (p.Pro188=)
n.446_447delinsCA
c.868_869delinsCA (p.His290=)
n.435_436delinsCA
c.880_881delinsCA (p.His294=)
1g.114679695G>ACA1020305AMPD1c.769C>T (p.His257Tyr)
c.781C>T (p.His261Tyr)
c.564C>T (p.Pro188=)
n.446C>T
c.868C>T (p.His290Tyr)
n.435C>T
c.880C>T (p.His294Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114679695G>CCA341750229AMPD1c.769C>G (p.His257Asp)
c.781C>G (p.His261Asp)
c.564C>G (p.Pro188=)
n.446C>G
c.868C>G (p.His290Asp)
n.435C>G
c.880C>G (p.His294Asp)
1g.114679695G=CA1147943486AMPD1c.769C= (p.His257=)
c.781C= (p.His261=)
c.564C= (p.Pro188=)
n.446C=
c.868C= (p.His290=)
n.435C=
c.880C= (p.His294=)
1g.114679695G>TCA341750230AMPD1c.769C>A (p.His257Asn)
c.781C>A (p.His261Asn)
c.564C>A (p.Pro188=)
n.446C>A
c.868C>A (p.His290Asn)
n.435C>A
c.880C>A (p.His294Asn)
1g.114679697delCA525418823AMPD1c.769del (p.His257ThrfsTer4)
c.781del (p.His261ThrfsTer4)
c.564del (p.Thr189ProfsTer17)
n.446del
c.868del (p.His290ThrfsTer4)
n.435del
c.880del (p.His294ThrfsTer4)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.114679696G>ACA419883321AMPD1c.768C>T (p.Thr256=)
c.780C>T (p.Thr260=)
c.563C>T (p.Pro188Leu)
n.445C>T
c.867C>T (p.Thr289=)
n.434C>T
c.879C>T (p.Thr293=)
 gnomAD v4
1g.114679696G>CCA419883322AMPD1c.768C>G (p.Thr256=)
c.780C>G (p.Thr260=)
c.563C>G (p.Pro188Arg)
n.445C>G
c.867C>G (p.Thr289=)
n.434C>G
c.879C>G (p.Thr293=)
 dbSNP
1g.114679696G=CA1190277483AMPD1c.768C= (p.Thr256=)
c.780C= (p.Thr260=)
c.563C= (p.Pro188=)
n.445C=
c.867C= (p.Thr289=)
n.434C=
c.879C= (p.Thr293=)
1g.114679696G>TCA419883323AMPD1c.768C>A (p.Thr256=)
c.780C>A (p.Thr260=)
c.563C>A (p.Pro188His)
n.445C>A
c.867C>A (p.Thr289=)
n.434C>A
c.879C>A (p.Thr293=)
1g.114679697G>ACA341750231AMPD1c.767C>T (p.Thr256Ile)
c.779C>T (p.Thr260Ile)
c.562C>T (p.Pro188Ser)
n.444C>T
c.866C>T (p.Thr289Ile)
n.433C>T
c.878C>T (p.Thr293Ile)
 ClinVar COSMIC COSMIC
1g.114679697G>CCA341750232AMPD1c.767C>G (p.Thr256Ser)
c.779C>G (p.Thr260Ser)
c.562C>G (p.Pro188Ala)
n.444C>G
c.866C>G (p.Thr289Ser)
n.433C>G
c.878C>G (p.Thr293Ser)
 gnomAD v4
1g.114679697G>TCA341750233AMPD1c.767C>A (p.Thr256Asn)
c.779C>A (p.Thr260Asn)
c.562C>A (p.Pro188Thr)
n.444C>A
c.866C>A (p.Thr289Asn)
n.433C>A
c.878C>A (p.Thr293Asn)
1g.114679698T>ACA341750234AMPD1c.766A>T (p.Thr256Ser)
c.778A>T (p.Thr260Ser)
c.561A>T (p.Ile187=)
n.443A>T
c.865A>T (p.Thr289Ser)
n.432A>T
c.877A>T (p.Thr293Ser)
1g.114679698T>CCA341750236AMPD1c.766A>G (p.Thr256Ala)
c.778A>G (p.Thr260Ala)
c.561A>G (p.Ile187Met)
n.443A>G
c.865A>G (p.Thr289Ala)
n.432A>G
c.877A>G (p.Thr293Ala)
1g.114679698T>GCA341750235AMPD1c.766A>C (p.Thr256Pro)
c.778A>C (p.Thr260Pro)
c.561A>C (p.Ile187=)
n.443A>C
c.865A>C (p.Thr289Pro)
n.432A>C
c.877A>C (p.Thr293Pro)
1g.114679699A>CCA341750237AMPD1c.765T>G (p.Tyr255Ter)
c.777T>G (p.Tyr259Ter)
c.560T>G (p.Ile187Arg)
n.442T>G
c.864T>G (p.Tyr288Ter)
n.431T>G
c.876T>G (p.Tyr292Ter)
1g.114679699A>GCA419883324AMPD1c.765T>C (p.Tyr255=)
c.777T>C (p.Tyr259=)
c.560T>C (p.Ile187Thr)
n.442T>C
c.864T>C (p.Tyr288=)
n.431T>C
c.876T>C (p.Tyr292=)
 gnomAD v4
1g.114679699A>TCA341750238AMPD1c.765T>A (p.Tyr255Ter)
c.777T>A (p.Tyr259Ter)
c.560T>A (p.Ile187Lys)
n.442T>A
c.864T>A (p.Tyr288Ter)
n.431T>A
c.876T>A (p.Tyr292Ter)
1g.114679700T>ACA341750239AMPD1c.764A>T (p.Tyr255Phe)
c.776A>T (p.Tyr259Phe)
c.559A>T (p.Ile187Leu)
n.441A>T
c.863A>T (p.Tyr288Phe)
n.430A>T
c.875A>T (p.Tyr292Phe)
1g.114679700T>CCA341750240AMPD1c.764A>G (p.Tyr255Cys)
c.776A>G (p.Tyr259Cys)
c.559A>G (p.Ile187Val)
n.441A>G
c.863A>G (p.Tyr288Cys)
n.430A>G
c.875A>G (p.Tyr292Cys)
1g.114679700T>GCA341750241AMPD1c.764A>C (p.Tyr255Ser)
c.776A>C (p.Tyr259Ser)
c.559A>C (p.Ile187Leu)
n.441A>C
c.863A>C (p.Tyr288Ser)
n.430A>C
c.875A>C (p.Tyr292Ser)
1g.114679701A=CA1190277484AMPD1c.763T= (p.Tyr255=)
c.775T= (p.Tyr259=)
c.558T= (p.Pro186=)
n.440T=
c.862T= (p.Tyr288=)
n.429T=
c.874T= (p.Tyr292=)
1g.114679701A>CCA341750242AMPD1c.763T>G (p.Tyr255Asp)
c.775T>G (p.Tyr259Asp)
c.558T>G (p.Pro186=)
n.440T>G
c.862T>G (p.Tyr288Asp)
n.429T>G
c.874T>G (p.Tyr292Asp)
1g.114679701A>GCA341750243AMPD1c.763T>C (p.Tyr255His)
c.775T>C (p.Tyr259His)
c.558T>C (p.Pro186=)
n.440T>C
c.862T>C (p.Tyr288His)
n.429T>C
c.874T>C (p.Tyr292His)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.114679701A>TCA341750244AMPD1c.763T>A (p.Tyr255Asn)
c.775T>A (p.Tyr259Asn)
c.558T>A (p.Pro186=)
n.440T>A
c.862T>A (p.Tyr288Asn)
n.429T>A
c.874T>A (p.Tyr292Asn)
1g.114679702G>ACA419883325AMPD1c.762C>T (p.Thr254=)
c.774C>T (p.Thr258=)
c.557C>T (p.Pro186Leu)
n.439C>T
c.861C>T (p.Thr287=)
n.428C>T
c.873C>T (p.Thr291=)
1g.114679702G>CCA419883326AMPD1c.762C>G (p.Thr254=)
c.774C>G (p.Thr258=)
c.557C>G (p.Pro186Arg)
n.439C>G
c.861C>G (p.Thr287=)
n.428C>G
c.873C>G (p.Thr291=)
 gnomAD v4
1g.114679702G>TCA419883327AMPD1c.762C>A (p.Thr254=)
c.774C>A (p.Thr258=)
c.557C>A (p.Pro186His)
n.439C>A
c.861C>A (p.Thr287=)
n.428C>A
c.873C>A (p.Thr291=)
1g.114679703G>ACA341750245AMPD1c.761C>T (p.Thr254Ile)
c.773C>T (p.Thr258Ile)
c.556C>T (p.Pro186Ser)
n.438C>T
c.860C>T (p.Thr287Ile)
n.427C>T
c.872C>T (p.Thr291Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.114679703G>CCA341750246AMPD1c.761C>G (p.Thr254Ser)
c.773C>G (p.Thr258Ser)
c.556C>G (p.Pro186Ala)
n.438C>G
c.860C>G (p.Thr287Ser)
n.427C>G
c.872C>G (p.Thr291Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.114679703G=CA1190277486AMPD1c.761C= (p.Thr254=)
c.773C= (p.Thr258=)
c.556C= (p.Pro186=)
n.438C=
c.860C= (p.Thr287=)
n.427C=
c.872C= (p.Thr291=)
1g.114679703G>TCA341750247AMPD1c.761C>A (p.Thr254Asn)
c.773C>A (p.Thr258Asn)
c.556C>A (p.Pro186Thr)
n.438C>A
c.860C>A (p.Thr287Asn)
n.427C>A
c.872C>A (p.Thr291Asn)
1g.114679704T>ACA1020306AMPD1c.760A>T (p.Thr254Ser)
c.772A>T (p.Thr258Ser)
c.555A>T (p.Arg185Ser)
n.437A>T
c.859A>T (p.Thr287Ser)
n.426A>T
c.871A>T (p.Thr291Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.114679704T>CCA341750249AMPD1c.760A>G (p.Thr254Ala)
c.772A>G (p.Thr258Ala)
c.555A>G (p.Arg185=)
n.437A>G
c.859A>G (p.Thr287Ala)
n.426A>G
c.871A>G (p.Thr291Ala)
1g.114679704T>GCA341750248AMPD1c.760A>C (p.Thr254Pro)
c.772A>C (p.Thr258Pro)
c.555A>C (p.Arg185Ser)
n.437A>C
c.859A>C (p.Thr287Pro)
n.426A>C
c.871A>C (p.Thr291Pro)
1g.114679704T=CA1190277488AMPD1c.760A= (p.Thr254=)
c.772A= (p.Thr258=)
c.555A= (p.Arg185=)
n.437A=
c.859A= (p.Thr287=)
n.426A=
c.871A= (p.Thr291=)
1g.114679705C>ACA341750250AMPD1c.759G>T (p.Lys253Asn)
c.771G>T (p.Lys257Asn)
c.554G>T (p.Arg185Ile)
n.436G>T
c.858G>T (p.Lys286Asn)
n.425G>T
c.870G>T (p.Lys290Asn)
1g.114679705C>GCA341750251AMPD1c.759G>C (p.Lys253Asn)
c.771G>C (p.Lys257Asn)
c.554G>C (p.Arg185Thr)
n.436G>C
c.858G>C (p.Lys286Asn)
n.425G>C
c.870G>C (p.Lys290Asn)
1g.114679705C>TCA419883328AMPD1c.759G>A (p.Lys253=)
c.771G>A (p.Lys257=)
c.554G>A (p.Arg185Lys)
n.436G>A
c.858G>A (p.Lys286=)
n.425G>A
c.870G>A (p.Lys290=)
 gnomAD v4
1g.114679706T>ACA341750252AMPD1c.758A>T (p.Lys253Met)
c.770A>T (p.Lys257Met)
c.553A>T (p.Arg185Ter)
n.435A>T
c.857A>T (p.Lys286Met)
n.424A>T
c.869A>T (p.Lys290Met)
1g.114679706T>CCA341750253AMPD1c.758A>G (p.Lys253Arg)
c.770A>G (p.Lys257Arg)
c.553A>G (p.Arg185Gly)
n.435A>G
c.857A>G (p.Lys286Arg)
n.424A>G
c.869A>G (p.Lys290Arg)
1g.114679706T>GCA341750254AMPD1c.758A>C (p.Lys253Thr)
c.770A>C (p.Lys257Thr)
c.553A>C (p.Arg185=)
n.435A>C
c.857A>C (p.Lys286Thr)
n.424A>C
c.869A>C (p.Lys290Thr)
1g.114679707T>ACA341750255AMPD1c.757A>T (p.Lys253Ter)
c.769A>T (p.Lys257Ter)
c.552A>T (p.Val184=)
n.434A>T
c.856A>T (p.Lys286Ter)
n.423A>T
c.868A>T (p.Lys290Ter)
1g.114679707T>CCA341750256AMPD1c.757A>G (p.Lys253Glu)
c.769A>G (p.Lys257Glu)
c.552A>G (p.Val184=)
n.434A>G
c.856A>G (p.Lys286Glu)
n.423A>G
c.868A>G (p.Lys290Glu)
1g.114679707T>GCA1020307AMPD1c.757A>C (p.Lys253Gln)
c.769A>C (p.Lys257Gln)
c.552A>C (p.Val184=)
n.434A>C
c.856A>C (p.Lys286Gln)
n.423A>C
c.868A>C (p.Lys290Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.114679707T=CA1190277490AMPD1c.757A= (p.Lys253=)
c.769A= (p.Lys257=)
c.552A= (p.Val184=)
n.434A=
c.856A= (p.Lys286=)
n.423A=
c.868A= (p.Lys290=)
1g.114679708A>CCA419883329AMPD1c.756T>G (p.Val252=)
c.768T>G (p.Val256=)
c.551T>G (p.Val184Gly)
n.433T>G
c.855T>G (p.Val285=)
n.422T>G
c.867T>G (p.Val289=)
1g.114679708A>GCA419883330AMPD1c.756T>C (p.Val252=)
c.768T>C (p.Val256=)
c.551T>C (p.Val184Ala)
n.433T>C
c.855T>C (p.Val285=)
n.422T>C
c.867T>C (p.Val289=)
1g.114679708A>TCA419883331AMPD1c.756T>A (p.Val252=)
c.768T>A (p.Val256=)
c.551T>A (p.Val184Glu)
n.433T>A
c.855T>A (p.Val285=)
n.422T>A
c.867T>A (p.Val289=)
1g.114679709C>ACA341750257AMPD1c.756-1G>T (n.756-1G>T)
c.768-1G>T (n.768-1G>T)
c.551-1G>T (n.551-1G>T)
n.433-1G>T
c.855-1G>T (n.855-1G>T)
n.422-1G>T
c.867-1G>T (n.867-1G>T)
 dbSNP gnomAD v4
1g.114679709C=CA1190277491AMPD1c.756-1G= (n.756-1G=)
c.768-1G= (n.768-1G=)
c.551-1G= (n.551-1G=)
n.433-1G=
c.855-1G= (n.855-1G=)
n.422-1G=
c.867-1G= (n.867-1G=)
1g.114679709C>GCA341750258AMPD1c.756-1G>C (n.756-1G>C)
c.768-1G>C (n.768-1G>C)
c.551-1G>C (n.551-1G>C)
n.433-1G>C
c.855-1G>C (n.855-1G>C)
n.422-1G>C
c.867-1G>C (n.867-1G>C)
1g.114679709C>TCA341750259AMPD1c.756-1G>A (n.756-1G>A)
c.768-1G>A (n.768-1G>A)
c.551-1G>A (n.551-1G>A)
n.433-1G>A
c.855-1G>A (n.855-1G>A)
n.422-1G>A
c.867-1G>A (n.867-1G>A)
1g.114679710T>ACA341750261AMPD1c.756-2A>T (n.756-2A>T)
c.768-2A>T (n.768-2A>T)
c.551-2A>T (n.551-2A>T)
n.433-2A>T
c.855-2A>T (n.855-2A>T)
n.422-2A>T
c.867-2A>T (n.867-2A>T)
1g.114679710T>CCA1020308AMPD1c.756-2A>G (n.756-2A>G)
c.768-2A>G (n.768-2A>G)
c.551-2A>G (n.551-2A>G)
n.433-2A>G
c.855-2A>G (n.855-2A>G)
n.422-2A>G
c.867-2A>G (n.867-2A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.114679710T>GCA341750260AMPD1c.756-2A>C (n.756-2A>C)
c.768-2A>C (n.768-2A>C)
c.551-2A>C (n.551-2A>C)
n.433-2A>C
c.855-2A>C (n.855-2A>C)
n.422-2A>C
c.867-2A>C (n.867-2A>C)
1g.114679710T=CA1190277492AMPD1c.756-2A= (n.756-2A=)
c.768-2A= (n.768-2A=)
c.551-2A= (n.551-2A=)
n.433-2A=
c.855-2A= (n.855-2A=)
n.422-2A=
c.867-2A= (n.867-2A=)
1g.114679711G>ACA1020309AMPD1c.756-3C>T (n.756-3C>T)
c.768-3C>T (n.768-3C>T)
c.551-3C>T (n.551-3C>T)
n.433-3C>T
c.855-3C>T (n.855-3C>T)
n.422-3C>T
c.867-3C>T (n.867-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.114679711G=CA1190277495AMPD1c.756-3C= (n.756-3C=)
c.768-3C= (n.768-3C=)
c.551-3C= (n.551-3C=)
n.433-3C=
c.855-3C= (n.855-3C=)
n.422-3C=
c.867-3C= (n.867-3C=)
1g.114679713G>ACA885814140AMPD1c.756-5C>T (n.756-5C>T)
c.768-5C>T (n.768-5C>T)
c.551-5C>T (n.551-5C>T)
n.433-5C>T
c.855-5C>T (n.855-5C>T)
n.422-5C>T
c.867-5C>T (n.867-5C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.114679713G=CA1190277496AMPD1c.756-5C= (n.756-5C=)
c.768-5C= (n.768-5C=)
c.551-5C= (n.551-5C=)
n.433-5C=
c.855-5C= (n.855-5C=)
n.422-5C=
c.867-5C= (n.867-5C=)
1g.114679714A>GCA2540663474AMPD1c.756-6T>C (n.756-6T>C)
c.768-6T>C (n.768-6T>C)
c.551-6T>C (n.551-6T>C)
n.433-6T>C
c.855-6T>C (n.855-6T>C)
n.422-6T>C
c.867-6T>C (n.867-6T>C)
1g.114679717_114679719delinsAATCA1190277497AMPD1c.756-11_756-9delinsATT (n.756-11_756-9delinsATT)
c.768-11_768-9delinsATT (n.768-11_768-9delinsATT)
c.551-11_551-9delinsATT (n.551-11_551-9delinsATT)
n.433-11_433-9delinsATT
c.855-11_855-9delinsATT (n.855-11_855-9delinsATT)
n.422-11_422-9delinsATT
c.867-11_867-9delinsATT (n.867-11_867-9delinsATT)
1g.114679719_114679720delCA525418829AMPD1c.756-11_756-10del (n.756-11_756-10del)
c.768-11_768-10del (n.768-11_768-10del)
c.551-11_551-10del (n.551-11_551-10del)
n.433-11_433-10del
c.855-11_855-10del (n.855-11_855-10del)
n.422-11_422-10del
c.867-11_867-10del (n.867-11_867-10del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.114679719T>CCA1020310AMPD1c.756-11A>G (n.756-11A>G)
c.768-11A>G (n.768-11A>G)
c.551-11A>G (n.551-11A>G)
n.433-11A>G
c.855-11A>G (n.855-11A>G)
n.422-11A>G
c.867-11A>G (n.867-11A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.114679719T=CA1143045629AMPD1c.756-11A= (n.756-11A=)
c.768-11A= (n.768-11A=)
c.551-11A= (n.551-11A=)
n.433-11A=
c.855-11A= (n.855-11A=)
n.422-11A=
c.867-11A= (n.867-11A=)
1g.114679720A>TCA2503812488AMPD1c.756-12T>A (n.756-12T>A)
c.768-12T>A (n.768-12T>A)
c.551-12T>A (n.551-12T>A)
n.433-12T>A
c.855-12T>A (n.855-12T>A)
n.422-12T>A
c.867-12T>A (n.867-12T>A)
1g.114679723A=CA1190277500AMPD1c.756-15T= (n.756-15T=)
c.768-15T= (n.768-15T=)
c.551-15T= (n.551-15T=)
n.433-15T=
c.855-15T= (n.855-15T=)
n.422-15T=
c.867-15T= (n.867-15T=)
1g.114679723A>GCA29056850AMPD1c.756-15T>C (n.756-15T>C)
c.768-15T>C (n.768-15T>C)
c.551-15T>C (n.551-15T>C)
n.433-15T>C
c.855-15T>C (n.855-15T>C)
n.422-15T>C
c.867-15T>C (n.867-15T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.114679724T>GCA2574035204AMPD1c.756-16A>C (n.756-16A>C)
c.768-16A>C (n.768-16A>C)
c.551-16A>C (n.551-16A>C)
n.433-16A>C
c.855-16A>C (n.855-16A>C)
n.422-16A>C
c.867-16A>C (n.867-16A>C)
1g.114679725C>TCA2696721176AMPD1c.756-17G>A (n.756-17G>A)
c.768-17G>A (n.768-17G>A)
c.551-17G>A (n.551-17G>A)
n.433-17G>A
c.855-17G>A (n.855-17G>A)
n.422-17G>A
c.867-17G>A (n.867-17G>A)
 dbSNP
1g.114679727C>TCA2580060838AMPD1c.756-19G>A (n.756-19G>A)
c.768-19G>A (n.768-19G>A)
c.551-19G>A (n.551-19G>A)
n.433-19G>A
c.855-19G>A (n.855-19G>A)
n.422-19G>A
c.867-19G>A (n.867-19G>A)
 ClinVar gnomAD v4
1g.114679728A=CA1144174430AMPD1c.756-20T= (n.756-20T=)
c.768-20T= (n.768-20T=)
c.551-20T= (n.551-20T=)
n.433-20T=
c.855-20T= (n.855-20T=)
n.422-20T=
c.867-20T= (n.867-20T=)
1g.114679728A>GCA29056854AMPD1c.756-20T>C (n.756-20T>C)
c.768-20T>C (n.768-20T>C)
c.551-20T>C (n.551-20T>C)
n.433-20T>C
c.855-20T>C (n.855-20T>C)
n.422-20T>C
c.867-20T>C (n.867-20T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.114679728A>TCA2647249204AMPD1c.756-20T>A (n.756-20T>A)
c.768-20T>A (n.768-20T>A)
c.551-20T>A (n.551-20T>A)
n.433-20T>A
c.855-20T>A (n.855-20T>A)
n.422-20T>A
c.867-20T>A (n.867-20T>A)
 gnomAD v4
1g.114679732_114679733insGCA2540662599AMPD1c.756-25_756-24insC (n.756-25_756-24insC)
c.768-25_768-24insC (n.768-25_768-24insC)
c.551-25_551-24insC (n.551-25_551-24insC)
n.433-25_433-24insC
c.855-25_855-24insC (n.855-25_855-24insC)
n.422-25_422-24insC
c.867-25_867-24insC (n.867-25_867-24insC)
1g.114679734_114679735delCA2503112045AMPD1c.756-27_756-26del (n.756-27_756-26del)
c.768-27_768-26del (n.768-27_768-26del)
c.551-27_551-26del (n.551-27_551-26del)
n.433-27_433-26del
c.855-27_855-26del (n.855-27_855-26del)
n.422-27_422-26del
c.867-27_867-26del (n.867-27_867-26del)
1g.114679736A=CA1190277503AMPD1c.756-28T= (n.756-28T=)
c.768-28T= (n.768-28T=)
c.551-28T= (n.551-28T=)
n.433-28T=
c.855-28T= (n.855-28T=)
n.422-28T=
c.867-28T= (n.867-28T=)
1g.114679736A>GCA1020311AMPD1c.756-28T>C (n.756-28T>C)
c.768-28T>C (n.768-28T>C)
c.551-28T>C (n.551-28T>C)
n.433-28T>C
c.855-28T>C (n.855-28T>C)
n.422-28T>C
c.867-28T>C (n.867-28T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.114679738_114679739insCACACCCAACACCA2745133670AMPD1c.756-31_756-30insGTGTTGGGTGTG (n.756-31_756-30insGTGTTGGGTGTG)
c.768-31_768-30insGTGTTGGGTGTG (n.768-31_768-30insGTGTTGGGTGTG)
c.551-31_551-30insGTGTTGGGTGTG (n.551-31_551-30insGTGTTGGGTGTG)
n.433-31_433-30insGTGTTGGGTGTG
c.855-31_855-30insGTGTTGGGTGTG (n.855-31_855-30insGTGTTGGGTGTG)
n.422-31_422-30insGTGTTGGGTGTG
c.867-31_867-30insGTGTTGGGTGTG (n.867-31_867-30insGTGTTGGGTGTG)

Number of alleles fetched