Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.78113801A>CCA517473267PGK1c.174A>C (p.Val58=)
c.90A>C (p.Val30=)
n.310A>C
n.166A>C
Xg.78113801A>GCA517473268PGK1c.174A>G (p.Val58=)
c.90A>G (p.Val30=)
n.310A>G
n.166A>G
Xg.78113801A>TCA517473269PGK1c.174A>T (p.Val58=)
c.90A>T (p.Val30=)
n.310A>T
n.166A>T
 COSMIC
Xg.78113802G>ACA413718921PGK1c.175G>A (p.Val59Ile)
c.91G>A (p.Val31Ile)
n.311G>A
n.167G>A
Xg.78113802G>CCA413718922PGK1c.175G>C (p.Val59Leu)
c.91G>C (p.Val31Leu)
n.311G>C
n.167G>C
Xg.78113802G>TCA413718925PGK1c.175G>T (p.Val59Phe)
c.91G>T (p.Val31Phe)
n.311G>T
n.167G>T
Xg.78113803T>ACA413718927PGK1c.176T>A (p.Val59Asp)
c.92T>A (p.Val31Asp)
n.312T>A
n.168T>A
Xg.78113803T>CCA331585638PGK1c.176T>C (p.Val59Ala)
c.92T>C (p.Val31Ala)
n.312T>C
n.168T>C
 dbSNP
Xg.78113803T>GCA413718931PGK1c.176T>G (p.Val59Gly)
c.92T>G (p.Val31Gly)
n.312T>G
n.168T>G
Xg.78113803T=CA2439136635PGK1c.176T= (p.Val59=)
c.92T= (p.Val31=)
n.312T=
n.168T=
Xg.78113804C>ACA517473270PGK1c.177C>A (p.Val59=)
c.93C>A (p.Val31=)
n.313C>A
n.169C>A
Xg.78113804C>GCA517473271PGK1c.177C>G (p.Val59=)
c.93C>G (p.Val31=)
n.313C>G
n.169C>G
Xg.78113804C>TCA517473272PGK1c.177C>T (p.Val59=)
c.93C>T (p.Val31=)
n.313C>T
n.169C>T
Xg.78113805C>ACA413718933PGK1c.178C>A (p.Leu60Ile)
c.94C>A (p.Leu32Ile)
n.314C>A
n.170C>A
Xg.78113805C>GCA413718935PGK1c.178C>G (p.Leu60Val)
c.94C>G (p.Leu32Val)
n.314C>G
n.170C>G
Xg.78113805C>TCA413718936PGK1c.178C>T (p.Leu60Phe)
c.94C>T (p.Leu32Phe)
n.314C>T
n.170C>T
 ClinVar
Xg.78113806T>ACA413718938PGK1c.179T>A (p.Leu60His)
c.95T>A (p.Leu32His)
n.315T>A
n.171T>A
Xg.78113806T>CCA413718940PGK1c.179T>C (p.Leu60Pro)
c.95T>C (p.Leu32Pro)
n.315T>C
n.171T>C
Xg.78113806T>GCA413718941PGK1c.179T>G (p.Leu60Arg)
c.95T>G (p.Leu32Arg)
n.315T>G
n.171T>G
Xg.78113807delCA2579650706PGK1c.180del (p.Met61Ter)
c.96del (p.Met33Ter)
n.316del
n.172del
Xg.78113807T>ACA517473273PGK1c.180T>A (p.Leu60=)
c.96T>A (p.Leu32=)
n.316T>A
n.172T>A
Xg.78113807T>CCA517473274PGK1c.180T>C (p.Leu60=)
c.96T>C (p.Leu32=)
n.316T>C
n.172T>C
Xg.78113807T>GCA517473275PGK1c.180T>G (p.Leu60=)
c.96T>G (p.Leu32=)
n.316T>G
n.172T>G
Xg.78113808A>CCA413718947PGK1c.181A>C (p.Met61Leu)
c.97A>C (p.Met33Leu)
n.317A>C
n.173A>C
Xg.78113808A>GCA413718946PGK1c.181A>G (p.Met61Val)
c.97A>G (p.Met33Val)
n.317A>G
n.173A>G
Xg.78113808A>TCA413718944PGK1c.181A>T (p.Met61Leu)
c.97A>T (p.Met33Leu)
n.317A>T
n.173A>T
Xg.78113809T>ACA413718949PGK1c.182T>A (p.Met61Lys)
c.98T>A (p.Met33Lys)
n.318T>A
n.174T>A
Xg.78113809T>CCA413718951PGK1c.182T>C (p.Met61Thr)
c.98T>C (p.Met33Thr)
n.318T>C
n.174T>C
 gnomAD v4
Xg.78113809T>GCA413718953PGK1c.182T>G (p.Met61Arg)
c.98T>G (p.Met33Arg)
n.318T>G
n.174T>G
Xg.78113810G>ACA10459630PGK1c.183G>A (p.Met61Ile)
c.99G>A (p.Met33Ile)
n.319G>A
n.175G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78113810G>CCA413718957PGK1c.183G>C (p.Met61Ile)
c.99G>C (p.Met33Ile)
n.319G>C
n.175G>C
Xg.78113810G=CA2439136637PGK1c.183G= (p.Met61=)
c.99G= (p.Met33=)
n.319G=
n.175G=
Xg.78113810G>TCA413718959PGK1c.183G>T (p.Met61Ile)
c.99G>T (p.Met33Ile)
n.319G>T
n.175G>T
 dbSNP gnomAD v4
Xg.78113811A>CCA413718964PGK1c.184A>C (p.Ser62Arg)
c.100A>C (p.Ser34Arg)
n.320A>C
n.176A>C
Xg.78113811A>GCA413718960PGK1c.184A>G (p.Ser62Gly)
c.100A>G (p.Ser34Gly)
n.320A>G
n.176A>G
Xg.78113811A>TCA413718962PGK1c.184A>T (p.Ser62Cys)
c.100A>T (p.Ser34Cys)
n.320A>T
n.176A>T
Xg.78113812G>ACA16609217PGK1c.185G>A (p.Ser62Asn)
c.101G>A (p.Ser34Asn)
n.321G>A
n.177G>A
 ClinVar dbSNP
Xg.78113812G>CCA413718967PGK1c.185G>C (p.Ser62Thr)
c.101G>C (p.Ser34Thr)
n.321G>C
n.177G>C
Xg.78113812G=CA2439136644PGK1c.185G= (p.Ser62=)
c.101G= (p.Ser34=)
n.321G=
n.177G=
Xg.78113812G>TCA413718969PGK1c.185G>T (p.Ser62Ile)
c.101G>T (p.Ser34Ile)
n.321G>T
n.177G>T
Xg.78113813C>ACA413718971PGK1c.186C>A (p.Ser62Arg)
c.102C>A (p.Ser34Arg)
n.322C>A
n.178C>A
Xg.78113813C>GCA413718973PGK1c.186C>G (p.Ser62Arg)
c.102C>G (p.Ser34Arg)
n.322C>G
n.178C>G
Xg.78113813C>TCA517473276PGK1c.186C>T (p.Ser62=)
c.102C>T (p.Ser34=)
n.322C>T
n.178C>T
Xg.78113814C>ACA413718975PGK1c.187C>A (p.His63Asn)
c.103C>A (p.His35Asn)
n.323C>A
n.179C>A
Xg.78113814C>GCA413718980PGK1c.187C>G (p.His63Asp)
c.103C>G (p.His35Asp)
n.323C>G
n.179C>G
Xg.78113814C>TCA413718978PGK1c.187C>T (p.His63Tyr)
c.103C>T (p.His35Tyr)
n.323C>T
n.179C>T
Xg.78113815A>CCA413718983PGK1c.188A>C (p.His63Pro)
c.104A>C (p.His35Pro)
n.324A>C
n.180A>C
Xg.78113815A>GCA413718985PGK1c.188A>G (p.His63Arg)
c.104A>G (p.His35Arg)
n.324A>G
n.180A>G
Xg.78113815A>TCA413718987PGK1c.188A>T (p.His63Leu)
c.104A>T (p.His35Leu)
n.324A>T
n.180A>T
Xg.78113816C>ACA413718989PGK1c.189C>A (p.His63Gln)
c.105C>A (p.His35Gln)
n.325C>A
n.181C>A
Xg.78113816C>GCA413718990PGK1c.189C>G (p.His63Gln)
c.105C>G (p.His35Gln)
n.325C>G
n.181C>G
Xg.78113816C>TCA517473279PGK1c.189C>T (p.His63=)
c.105C>T (p.His35=)
n.325C>T
n.181C>T
 gnomAD v4
Xg.78113817C>ACA413718994PGK1c.190C>A (p.Leu64Ile)
c.106C>A (p.Leu36Ile)
n.326C>A
n.182C>A
Xg.78113817C=CA2439136648PGK1c.190C= (p.Leu64=)
c.106C= (p.Leu36=)
n.326C=
n.182C=
Xg.78113817C>GCA413718996PGK1c.190C>G (p.Leu64Val)
c.106C>G (p.Leu36Val)
n.326C>G
n.182C>G
Xg.78113817C>TCA517473280PGK1c.190C>T (p.Leu64=)
c.106C>T (p.Leu36=)
n.326C>T
n.182C>T
 dbSNP
Xg.78113818T>ACA413718999PGK1c.191T>A (p.Leu64Gln)
c.107T>A (p.Leu36Gln)
n.327T>A
n.183T>A
Xg.78113818T>CCA413719000PGK1c.191T>C (p.Leu64Pro)
c.107T>C (p.Leu36Pro)
n.327T>C
n.183T>C
Xg.78113818T>GCA413719003PGK1c.191T>G (p.Leu64Arg)
c.107T>G (p.Leu36Arg)
n.327T>G
n.183T>G
Xg.78113819A>CCA517473284PGK1c.192A>C (p.Leu64=)
c.108A>C (p.Leu36=)
n.328A>C
n.184A>C
Xg.78113819A>GCA517473287PGK1c.192A>G (p.Leu64=)
c.108A>G (p.Leu36=)
n.328A>G
n.184A>G
Xg.78113819A>TCA517473286PGK1c.192A>T (p.Leu64=)
c.108A>T (p.Leu36=)
n.328A>T
n.184A>T
 gnomAD v4
Xg.78113820G>ACA413719009PGK1c.193G>A (p.Gly65Ser)
c.109G>A (p.Gly37Ser)
n.329G>A
n.185G>A
Xg.78113820G>CCA413719007PGK1c.193G>C (p.Gly65Arg)
c.109G>C (p.Gly37Arg)
n.329G>C
n.185G>C
Xg.78113820G>TCA413719005PGK1c.193G>T (p.Gly65Cys)
c.109G>T (p.Gly37Cys)
n.329G>T
n.185G>T
Xg.78113821G>ACA413719011PGK1c.194G>A (p.Gly65Asp)
c.110G>A (p.Gly37Asp)
n.330G>A
n.186G>A
Xg.78113821G>CCA413719013PGK1c.194G>C (p.Gly65Ala)
c.110G>C (p.Gly37Ala)
n.330G>C
n.186G>C
Xg.78113821G>TCA413719012PGK1c.194G>T (p.Gly65Val)
c.110G>T (p.Gly37Val)
n.330G>T
n.186G>T
Xg.78113822C>ACA517473291PGK1c.195C>A (p.Gly65=)
c.111C>A (p.Gly37=)
n.331C>A
n.187C>A
Xg.78113822C>GCA517473292PGK1c.195C>G (p.Gly65=)
c.111C>G (p.Gly37=)
n.331C>G
n.187C>G
Xg.78113822C>TCA517473294PGK1c.195C>T (p.Gly65=)
c.111C>T (p.Gly37=)
n.331C>T
n.187C>T
Xg.78113823C>ACA517473295PGK1c.196C>A (p.Arg66=)
c.112C>A (p.Arg38=)
n.332C>A
n.188C>A
Xg.78113823C>GCA413719016PGK1c.196C>G (p.Arg66Gly)
c.112C>G (p.Arg38Gly)
n.332C>G
n.188C>G
Xg.78113823C>TCA413719018PGK1c.196C>T (p.Arg66Trp)
c.112C>T (p.Arg38Trp)
n.332C>T
n.188C>T
 ClinVar COSMIC
Xg.78113824G>ACA413719020PGK1c.197G>A (p.Arg66Gln)
c.113G>A (p.Arg38Gln)
n.333G>A
n.189G>A
 dbSNP
Xg.78113824G>CCA413719024PGK1c.197G>C (p.Arg66Pro)
c.113G>C (p.Arg38Pro)
n.333G>C
n.189G>C
Xg.78113824G=CA2439136651PGK1c.197G= (p.Arg66=)
c.113G= (p.Arg38=)
n.333G=
n.189G=
Xg.78113824G>TCA413719023PGK1c.197G>T (p.Arg66Leu)
c.113G>T (p.Arg38Leu)
n.333G>T
n.189G>T
Xg.78113825G>ACA517473298PGK1c.198G>A (p.Arg66=)
c.114G>A (p.Arg38=)
n.334G>A
n.190G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.78113825G>CCA331585639PGK1c.198G>C (p.Arg66=)
c.114G>C (p.Arg38=)
n.334G>C
n.190G>C
 dbSNP gnomAD v4
Xg.78113825G=CA2439136653PGK1c.198G= (p.Arg66=)
c.114G= (p.Arg38=)
n.334G=
n.190G=
Xg.78113825G>TCA517473299PGK1c.198G>T (p.Arg66=)
c.114G>T (p.Arg38=)
n.334G>T
n.190G>T
 dbSNP gnomAD v3 gnomAD v4
Xg.78113826C>ACA413719028PGK1c.199C>A (p.Pro67Thr)
c.115C>A (p.Pro39Thr)
n.335C>A
n.191C>A
Xg.78113826C>GCA413719031PGK1c.199C>G (p.Pro67Ala)
c.115C>G (p.Pro39Ala)
n.335C>G
n.191C>G
Xg.78113826C>TCA413719033PGK1c.199C>T (p.Pro67Ser)
c.115C>T (p.Pro39Ser)
n.335C>T
n.191C>T
Xg.78113826_78113827delinsAACA645619661PGK1c.199_200delinsAA (p.Pro67Asn)
c.115_116delinsAA (p.Pro39Asn)
n.335_336delinsAA
n.191_192delinsAA
 COSMIC
Xg.78113827C>ACA413719036PGK1c.200C>A (p.Pro67His)
c.116C>A (p.Pro39His)
n.336C>A
n.192C>A
Xg.78113827C>GCA413719037PGK1c.200C>G (p.Pro67Arg)
c.116C>G (p.Pro39Arg)
n.336C>G
n.192C>G
Xg.78113827C>TCA413719039PGK1c.200C>T (p.Pro67Leu)
c.116C>T (p.Pro39Leu)
n.336C>T
n.192C>T
Xg.78113828T>ACA517473301PGK1c.201T>A (p.Pro67=)
c.117T>A (p.Pro39=)
n.337T>A
n.193T>A
 dbSNP gnomAD v3 gnomAD v4
Xg.78113828T>CCA517473302PGK1c.201T>C (p.Pro67=)
c.117T>C (p.Pro39=)
n.337T>C
n.193T>C
Xg.78113828T>GCA517473304PGK1c.201T>G (p.Pro67=)
c.117T>G (p.Pro39=)
n.337T>G
n.193T>G
Xg.78113828T=CA2439136655PGK1c.201T= (p.Pro67=)
c.117T= (p.Pro39=)
n.337T=
n.193T=
Xg.78113829G>ACA413719042PGK1c.202G>A (p.Asp68Asn)
c.118G>A (p.Asp40Asn)
n.338G>A
n.194G>A
Xg.78113829G>CCA413719044PGK1c.202G>C (p.Asp68His)
c.118G>C (p.Asp40His)
n.338G>C
n.194G>C
Xg.78113829G>TCA413719047PGK1c.202G>T (p.Asp68Tyr)
c.118G>T (p.Asp40Tyr)
n.338G>T
n.194G>T
Xg.78113830A>CCA413719049PGK1c.203A>C (p.Asp68Ala)
c.119A>C (p.Asp40Ala)
n.339A>C
n.195A>C
Xg.78113830A>GCA413719052PGK1c.203A>G (p.Asp68Gly)
c.119A>G (p.Asp40Gly)
n.339A>G
n.195A>G
Xg.78113830A>TCA413719053PGK1c.203A>T (p.Asp68Val)
c.119A>T (p.Asp40Val)
n.339A>T
n.195A>T
Xg.78113831T>ACA413719056PGK1c.204T>A (p.Asp68Glu)
c.120T>A (p.Asp40Glu)
n.340T>A
n.196T>A
Xg.78113831T>CCA517473306PGK1c.204T>C (p.Asp68=)
c.120T>C (p.Asp40=)
n.340T>C
n.196T>C
Xg.78113831T>GCA413719058PGK1c.204T>G (p.Asp68Glu)
c.120T>G (p.Asp40Glu)
n.340T>G
n.196T>G
Xg.78113832G>ACA413719061PGK1c.205G>A (p.Gly69Ser)
c.121G>A (p.Gly41Ser)
n.341G>A
n.197G>A
Xg.78113832G>CCA413719062PGK1c.205G>C (p.Gly69Arg)
c.121G>C (p.Gly41Arg)
n.341G>C
n.197G>C
Xg.78113832G>TCA413719065PGK1c.205G>T (p.Gly69Cys)
c.121G>T (p.Gly41Cys)
n.341G>T
n.197G>T
Xg.78113833G>ACA413719067PGK1c.206G>A (p.Gly69Asp)
c.122G>A (p.Gly41Asp)
n.342G>A
n.198G>A
Xg.78113833G>CCA413719070PGK1c.206G>C (p.Gly69Ala)
c.122G>C (p.Gly41Ala)
n.342G>C
n.198G>C
Xg.78113833G>TCA413719072PGK1c.206G>T (p.Gly69Val)
c.122G>T (p.Gly41Val)
n.342G>T
n.198G>T
Xg.78113834T>ACA517473310PGK1c.207T>A (p.Gly69=)
c.123T>A (p.Gly41=)
n.343T>A
n.199T>A
Xg.78113834T>CCA517473312PGK1c.207T>C (p.Gly69=)
c.123T>C (p.Gly41=)
n.343T>C
n.199T>C
 ClinVar dbSNP
Xg.78113834T>GCA517473314PGK1c.207T>G (p.Gly69=)
c.123T>G (p.Gly41=)
n.343T>G
n.199T>G
Xg.78113835G>ACA413719075PGK1c.208G>A (p.Val70Met)
c.124G>A (p.Val42Met)
n.344G>A
n.200G>A
Xg.78113835G>CCA413719076PGK1c.208G>C (p.Val70Leu)
c.124G>C (p.Val42Leu)
n.344G>C
n.200G>C
Xg.78113835G>TCA413719079PGK1c.208G>T (p.Val70Leu)
c.124G>T (p.Val42Leu)
n.344G>T
n.200G>T
Xg.78113836T>ACA413719082PGK1c.209T>A (p.Val70Glu)
c.125T>A (p.Val42Glu)
n.345T>A
n.201T>A
Xg.78113836T>CCA413719085PGK1c.209T>C (p.Val70Ala)
c.125T>C (p.Val42Ala)
n.345T>C
n.201T>C
Xg.78113836T>GCA413719087PGK1c.209T>G (p.Val70Gly)
c.125T>G (p.Val42Gly)
n.345T>G
n.201T>G
Xg.78113837G>ACA10459631PGK1c.210G>A (p.Val70=)
c.126G>A (p.Val42=)
n.346G>A
n.202G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.78113837G>CCA517473318PGK1c.210G>C (p.Val70=)
c.126G>C (p.Val42=)
n.346G>C
n.202G>C
Xg.78113837G=CA2439136656PGK1c.210G= (p.Val70=)
c.126G= (p.Val42=)
n.346G=
n.202G=
Xg.78113837G>TCA517473319PGK1c.210G>T (p.Val70=)
c.126G>T (p.Val42=)
n.346G>T
n.202G>T
 dbSNP gnomAD v2 gnomAD v4
Xg.78113838C>ACA413719092PGK1c.211C>A (p.Pro71Thr)
c.127C>A (p.Pro43Thr)
n.347C>A
n.203C>A
Xg.78113838C=CA2439136658PGK1c.211C= (p.Pro71=)
c.127C= (p.Pro43=)
n.347C=
n.203C=
Xg.78113838C>GCA10459632PGK1c.211C>G (p.Pro71Ala)
c.127C>G (p.Pro43Ala)
n.347C>G
n.203C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78113838C>TCA413719091PGK1c.211C>T (p.Pro71Ser)
c.127C>T (p.Pro43Ser)
n.347C>T
n.203C>T
 dbSNP gnomAD v4
Xg.78113839C>ACA413719096PGK1c.212C>A (p.Pro71His)
c.128C>A (p.Pro43His)
n.348C>A
n.204C>A
Xg.78113839C=CA2439136662PGK1c.212C= (p.Pro71=)
c.128C= (p.Pro43=)
n.348C=
n.204C=
Xg.78113839C>GCA413719098PGK1c.212C>G (p.Pro71Arg)
c.128C>G (p.Pro43Arg)
n.348C>G
n.204C>G
Xg.78113839C>TCA10459633PGK1c.212C>T (p.Pro71Leu)
c.128C>T (p.Pro43Leu)
n.348C>T
n.204C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78113840C>ACA517473323PGK1c.213C>A (p.Pro71=)
c.129C>A (p.Pro43=)
n.349C>A
n.205C>A
Xg.78113840C>GCA517473325PGK1c.213C>G (p.Pro71=)
c.129C>G (p.Pro43=)
n.349C>G
n.205C>G
Xg.78113840C>TCA517473321PGK1c.213C>T (p.Pro71=)
c.129C>T (p.Pro43=)
n.349C>T
n.205C>T
 gnomAD v4
Xg.78113841A=CA2439136665PGK1c.214A= (p.Met72=)
c.130A= (p.Met44=)
n.350A=
n.206A=
Xg.78113841A>CCA413719102PGK1c.214A>C (p.Met72Leu)
c.130A>C (p.Met44Leu)
n.350A>C
n.206A>C
Xg.78113841A>GCA413719104PGK1c.214A>G (p.Met72Val)
c.130A>G (p.Met44Val)
n.350A>G
n.206A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.78113841A>TCA413719105PGK1c.214A>T (p.Met72Leu)
c.130A>T (p.Met44Leu)
n.350A>T
n.206A>T
Xg.78113842T>ACA413719112PGK1c.215T>A (p.Met72Lys)
c.131T>A (p.Met44Lys)
n.351T>A
n.207T>A
 gnomAD v4
Xg.78113842T>CCA413719110PGK1c.215T>C (p.Met72Thr)
c.131T>C (p.Met44Thr)
n.351T>C
n.207T>C
 gnomAD v4
Xg.78113842T>GCA413719109PGK1c.215T>G (p.Met72Arg)
c.131T>G (p.Met44Arg)
n.351T>G
n.207T>G
Xg.78113843G>ACA413719114PGK1c.216G>A (p.Met72Ile)
c.132G>A (p.Met44Ile)
n.352G>A
n.208G>A
Xg.78113843G>CCA413719116PGK1c.216G>C (p.Met72Ile)
c.132G>C (p.Met44Ile)
n.352G>C
n.208G>C
 gnomAD v4
Xg.78113843G>TCA413719119PGK1c.216G>T (p.Met72Ile)
c.132G>T (p.Met44Ile)
n.352G>T
n.208G>T
Xg.78113844C>ACA413719122PGK1c.217C>A (p.Pro73Thr)
c.133C>A (p.Pro45Thr)
n.353C>A
n.209C>A
Xg.78113844C=CA2439136668PGK1c.217C= (p.Pro73=)
c.133C= (p.Pro45=)
n.353C=
n.209C=
Xg.78113844C>GCA413719124PGK1c.217C>G (p.Pro73Ala)
c.133C>G (p.Pro45Ala)
n.353C>G
n.209C>G
Xg.78113844C>TCA10459634PGK1c.217C>T (p.Pro73Ser)
c.133C>T (p.Pro45Ser)
n.353C>T
n.209C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78113845C>ACA413719127PGK1c.218C>A (p.Pro73His)
c.134C>A (p.Pro45His)
n.210C>A
Xg.78113845C=CA2439136671PGK1c.218C= (p.Pro73=)
c.134C= (p.Pro45=)
n.210C=
Xg.78113845C>GCA413719132PGK1c.218C>G (p.Pro73Arg)
c.134C>G (p.Pro45Arg)
n.210C>G
 COSMIC
Xg.78113845C>TCA413719130PGK1c.218C>T (p.Pro73Leu)
c.134C>T (p.Pro45Leu)
n.210C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.78113846T>ACA517473329PGK1c.219T>A (p.Pro73=)
c.135T>A (p.Pro45=)
n.211T>A
Xg.78113846T>CCA517473333PGK1c.219T>C (p.Pro73=)
c.135T>C (p.Pro45=)
n.211T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.78113846T>GCA517473331PGK1c.219T>G (p.Pro73=)
c.135T>G (p.Pro45=)
n.211T>G
Xg.78113846T=CA2439137064PGK1c.219T= (p.Pro73=)
c.135T= (p.Pro45=)
n.211T=
Xg.78113847G>ACA413719135PGK1c.220G>A (p.Asp74Asn)
c.136G>A (p.Asp46Asn)
n.212G>A
 gnomAD v4
Xg.78113847G>CCA413719136PGK1c.220G>C (p.Asp74His)
c.136G>C (p.Asp46His)
n.212G>C
Xg.78113847G>TCA413719139PGK1c.220G>T (p.Asp74Tyr)
c.136G>T (p.Asp46Tyr)
n.212G>T
Xg.78113848A>CCA413719141PGK1c.221A>C (p.Asp74Ala)
c.137A>C (p.Asp46Ala)
n.213A>C
Xg.78113848A>GCA413719143PGK1c.221A>G (p.Asp74Gly)
c.137A>G (p.Asp46Gly)
n.213A>G
Xg.78113848A>TCA413719145PGK1c.221A>T (p.Asp74Val)
c.137A>T (p.Asp46Val)
n.213A>T
Xg.78113849C>ACA413719147PGK1c.222C>A (p.Asp74Glu)
c.138C>A (p.Asp46Glu)
n.214C>A
Xg.78113849C>GCA413719149PGK1c.222C>G (p.Asp74Glu)
c.138C>G (p.Asp46Glu)
n.214C>G
Xg.78113849C>TCA517473336PGK1c.222C>T (p.Asp74=)
c.138C>T (p.Asp46=)
n.214C>T
Xg.78113850A>CCA413719152PGK1c.223A>C (p.Lys75Gln)
c.139A>C (p.Lys47Gln)
n.215A>C
Xg.78113850A>GCA413719154PGK1c.223A>G (p.Lys75Glu)
c.139A>G (p.Lys47Glu)
n.215A>G
Xg.78113850A>TCA413719156PGK1c.223A>T (p.Lys75Ter)
c.139A>T (p.Lys47Ter)
n.215A>T
Xg.78113851A>CCA413719162PGK1c.224A>C (p.Lys75Thr)
c.140A>C (p.Lys47Thr)
n.216A>C
Xg.78113851A>GCA413719159PGK1c.224A>G (p.Lys75Arg)
c.140A>G (p.Lys47Arg)
n.216A>G
Xg.78113851A>TCA413719161PGK1c.224A>T (p.Lys75Met)
c.140A>T (p.Lys47Met)
n.216A>T
Xg.78113852G>ACA517473339PGK1c.225G>A (p.Lys75=)
c.141G>A (p.Lys47=)
n.217G>A
 gnomAD v4
Xg.78113852G>CCA413719165PGK1c.225G>C (p.Lys75Asn)
c.141G>C (p.Lys47Asn)
n.217G>C
Xg.78113852G>TCA413719167PGK1c.225G>T (p.Lys75Asn)
c.141G>T (p.Lys47Asn)
n.217G>T
 gnomAD v3 gnomAD v4
Xg.78113853T>ACA413719170PGK1c.226T>A (p.Tyr76Asn)
c.142T>A (p.Tyr48Asn)
n.218T>A
Xg.78113853T>CCA413719171PGK1c.226T>C (p.Tyr76His)
c.142T>C (p.Tyr48His)
n.218T>C
Xg.78113853T>GCA413719174PGK1c.226T>G (p.Tyr76Asp)
c.142T>G (p.Tyr48Asp)
n.218T>G
Xg.78113854A>CCA413719176PGK1c.227A>C (p.Tyr76Ser)
c.143A>C (p.Tyr48Ser)
n.219A>C
Xg.78113854A>GCA413719178PGK1c.227A>G (p.Tyr76Cys)
c.143A>G (p.Tyr48Cys)
n.219A>G
Xg.78113854A>TCA413719180PGK1c.227A>T (p.Tyr76Phe)
c.143A>T (p.Tyr48Phe)
n.219A>T
Xg.78113855C>ACA413719183PGK1c.228C>A (p.Tyr76Ter)
c.144C>A (p.Tyr48Ter)
n.220C>A
Xg.78113855C>GCA413719185PGK1c.228C>G (p.Tyr76Ter)
c.144C>G (p.Tyr48Ter)
n.220C>G
Xg.78113855C>TCA517473344PGK1c.228C>T (p.Tyr76=)
c.144C>T (p.Tyr48=)
n.220C>T
Xg.78113856T>ACA413719188PGK1c.229T>A (p.Ser77Thr)
c.145T>A (p.Ser49Thr)
n.221T>A
Xg.78113856T>CCA413719191PGK1c.229T>C (p.Ser77Pro)
c.145T>C (p.Ser49Pro)
n.221T>C
 gnomAD v4
Xg.78113856T>GCA413719193PGK1c.229T>G (p.Ser77Ala)
c.145T>G (p.Ser49Ala)
n.221T>G
Xg.78113857C>ACA413719199PGK1c.230C>A (p.Ser77Tyr)
c.146C>A (p.Ser49Tyr)
n.222C>A
Xg.78113857C=CA2439137065PGK1c.230C= (p.Ser77=)
c.146C= (p.Ser49=)
n.222C=
Xg.78113857C>GCA413719197PGK1c.230C>G (p.Ser77Cys)
c.146C>G (p.Ser49Cys)
n.222C>G
Xg.78113857C>TCA10459635PGK1c.230C>T (p.Ser77Phe)
c.146C>T (p.Ser49Phe)
n.222C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78113858C>ACA517473348PGK1c.231C>A (p.Ser77=)
c.147C>A (p.Ser49=)
n.223C>A
Xg.78113858C=CA2439137066PGK1c.231C= (p.Ser77=)
c.147C= (p.Ser49=)
n.223C=
Xg.78113858C>GCA517473349PGK1c.231C>G (p.Ser77=)
c.147C>G (p.Ser49=)
n.223C>G
Xg.78113858C>TCA331585640PGK1c.231C>T (p.Ser77=)
c.147C>T (p.Ser49=)
n.223C>T
 ClinVar dbSNP
Xg.78113859T>ACA413719203PGK1c.232T>A (p.Leu78Ile)
c.148T>A (p.Leu50Ile)
n.224T>A
Xg.78113859T>CCA517473353PGK1c.232T>C (p.Leu78=)
c.148T>C (p.Leu50=)
n.224T>C
Xg.78113859T>GCA413719204PGK1c.232T>G (p.Leu78Val)
c.148T>G (p.Leu50Val)
n.224T>G
Xg.78113860T>ACA413719208PGK1c.233T>A (p.Leu78Ter)
c.149T>A (p.Leu50Ter)
n.225T>A
Xg.78113860T>CCA10459636PGK1c.233T>C (p.Leu78Ser)
c.149T>C (p.Leu50Ser)
n.225T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78113860T>GCA413719211PGK1c.233T>G (p.Leu78Ter)
c.149T>G (p.Leu50Ter)
n.225T>G
Xg.78113860T=CA2439137067PGK1c.233T= (p.Leu78=)
c.149T= (p.Leu50=)
n.225T=
Xg.78113861A>CCA413719213PGK1c.234A>C (p.Leu78Phe)
c.150A>C (p.Leu50Phe)
n.226A>C
Xg.78113861A>GCA517473357PGK1c.234A>G (p.Leu78=)
c.150A>G (p.Leu50=)
n.226A>G
Xg.78113861A>TCA413719216PGK1c.234A>T (p.Leu78Phe)
c.150A>T (p.Leu50Phe)
n.226A>T
Xg.78113862G>ACA413719218PGK1c.235G>A (p.Glu79Lys)
c.151G>A (p.Glu51Lys)
n.227G>A
Xg.78113862G>CCA413719220PGK1c.235G>C (p.Glu79Gln)
c.151G>C (p.Glu51Gln)
n.227G>C
Xg.78113862G>TCA413719222PGK1c.235G>T (p.Glu79Ter)
c.151G>T (p.Glu51Ter)
n.227G>T
Xg.78113863A>CCA413719224PGK1c.236A>C (p.Glu79Ala)
c.152A>C (p.Glu51Ala)
n.228A>C
Xg.78113863A>GCA413719227PGK1c.236A>G (p.Glu79Gly)
c.152A>G (p.Glu51Gly)
n.228A>G
Xg.78113863A>TCA413719228PGK1c.236A>T (p.Glu79Val)
c.152A>T (p.Glu51Val)
n.228A>T
Xg.78113864G>ACA331585641PGK1c.237G>A (p.Glu79=)
c.153G>A (p.Glu51=)
n.229G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.78113864G>CCA413719232PGK1c.237G>C (p.Glu79Asp)
c.153G>C (p.Glu51Asp)
n.229G>C
Xg.78113864G=CA2439137068PGK1c.237G= (p.Glu79=)
c.153G= (p.Glu51=)
n.229G=
Xg.78113864G>TCA413719231PGK1c.237G>T (p.Glu79Asp)
c.153G>T (p.Glu51Asp)
n.229G>T
 dbSNP gnomAD v2
Xg.78113865C>ACA413719235PGK1c.238C>A (p.Pro80Thr)
c.154C>A (p.Pro52Thr)
n.230C>A
Xg.78113865C=CA2439137069PGK1c.238C= (p.Pro80=)
c.154C= (p.Pro52=)
n.230C=
Xg.78113865C>GCA413719236PGK1c.238C>G (p.Pro80Ala)
c.154C>G (p.Pro52Ala)
n.230C>G
Xg.78113865C>TCA10459637PGK1c.238C>T (p.Pro80Ser)
c.154C>T (p.Pro52Ser)
n.230C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78113866C>ACA413719240PGK1c.239C>A (p.Pro80Gln)
c.155C>A (p.Pro52Gln)
n.231C>A
Xg.78113866C>GCA413719243PGK1c.239C>G (p.Pro80Arg)
c.155C>G (p.Pro52Arg)
n.231C>G
Xg.78113866C>TCA413719244PGK1c.239C>T (p.Pro80Leu)
c.155C>T (p.Pro52Leu)
n.231C>T
Xg.78113867A=CA2439137070PGK1c.240A= (p.Pro80=)
c.156A= (p.Pro52=)
n.232A=
Xg.78113867A>CCA517473366PGK1c.240A>C (p.Pro80=)
c.156A>C (p.Pro52=)
n.232A>C
Xg.78113867A>GCA517473367PGK1c.240A>G (p.Pro80=)
c.156A>G (p.Pro52=)
n.232A>G
 ClinVar dbSNP
Xg.78113867A>TCA517473368PGK1c.240A>T (p.Pro80=)
c.156A>T (p.Pro52=)
n.232A>T
Xg.78113868G>ACA413719247PGK1c.241G>A (p.Val81Ile)
c.157G>A (p.Val53Ile)
n.233G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.78113868G>CCA413719250PGK1c.241G>C (p.Val81Leu)
c.157G>C (p.Val53Leu)
n.233G>C
Xg.78113868G=CA2439137071PGK1c.241G= (p.Val81=)
c.157G= (p.Val53=)
n.233G=
Xg.78113868G>TCA10459638PGK1c.241G>T (p.Val81Phe)
c.157G>T (p.Val53Phe)
n.233G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78113869T>ACA413719254PGK1c.242T>A (p.Val81Asp)
c.158T>A (p.Val53Asp)
n.234T>A
Xg.78113869T>CCA413719256PGK1c.242T>C (p.Val81Ala)
c.158T>C (p.Val53Ala)
n.234T>C
Xg.78113869T>GCA10459639PGK1c.242T>G (p.Val81Gly)
c.158T>G (p.Val53Gly)
n.234T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78113869T=CA2439137072PGK1c.242T= (p.Val81=)
c.158T= (p.Val53=)
n.234T=
Xg.78113870T>ACA517473372PGK1c.243T>A (p.Val81=)
c.159T>A (p.Val53=)
n.235T>A
Xg.78113870T>CCA10459640PGK1c.243T>C (p.Val81=)
c.159T>C (p.Val53=)
n.235T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78113870T>GCA517473373PGK1c.243T>G (p.Val81=)
c.159T>G (p.Val53=)
n.235T>G
Xg.78113870T=CA2439137073PGK1c.243T= (p.Val81=)
c.159T= (p.Val53=)
n.235T=
Xg.78113871G>ACA413719266PGK1c.244G>A (p.Ala82Thr)
c.160G>A (p.Ala54Thr)
n.236G>A
Xg.78113871G>CCA413719262PGK1c.244G>C (p.Ala82Pro)
c.160G>C (p.Ala54Pro)
n.236G>C
Xg.78113871G>TCA413719264PGK1c.244G>T (p.Ala82Ser)
c.160G>T (p.Ala54Ser)
n.236G>T
Xg.78113872C>ACA413719268PGK1c.245C>A (p.Ala82Asp)
c.161C>A (p.Ala54Asp)
n.237C>A
Xg.78113872C>GCA413719270PGK1c.245C>G (p.Ala82Gly)
c.161C>G (p.Ala54Gly)
n.237C>G
 gnomAD v4
Xg.78113872C>TCA413719272PGK1c.245C>T (p.Ala82Val)
c.161C>T (p.Ala54Val)
n.237C>T
Xg.78113873T>ACA517473376PGK1c.246T>A (p.Ala82=)
c.162T>A (p.Ala54=)
n.238T>A
Xg.78113873T>CCA517473378PGK1c.246T>C (p.Ala82=)
c.162T>C (p.Ala54=)
n.238T>C
Xg.78113873T>GCA517473379PGK1c.246T>G (p.Ala82=)
c.162T>G (p.Ala54=)
n.238T>G
Xg.78113874G>ACA413719274PGK1c.247G>A (p.Val83Ile)
c.163G>A (p.Val55Ile)
n.239G>A
Xg.78113874G>CCA413719277PGK1c.247G>C (p.Val83Leu)
c.163G>C (p.Val55Leu)
n.239G>C
Xg.78113874G>TCA413719279PGK1c.247G>T (p.Val83Leu)
c.163G>T (p.Val55Leu)
n.239G>T
Xg.78113875T>ACA413719281PGK1c.248T>A (p.Val83Glu)
c.164T>A (p.Val55Glu)
n.240T>A
Xg.78113875T>CCA10459641PGK1c.248T>C (p.Val83Ala)
c.164T>C (p.Val55Ala)
n.240T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78113875T>GCA413719283PGK1c.248T>G (p.Val83Gly)
c.164T>G (p.Val55Gly)
n.240T>G
Xg.78113875T=CA2439137074PGK1c.248T= (p.Val83=)
c.164T= (p.Val55=)
n.240T=
Xg.78113876A>CCA517473381PGK1c.249A>C (p.Val83=)
c.165A>C (p.Val55=)
n.241A>C
Xg.78113876A>GCA517473382PGK1c.249A>G (p.Val83=)
c.165A>G (p.Val55=)
n.241A>G
Xg.78113876A>TCA517473383PGK1c.249A>T (p.Val83=)
c.165A>T (p.Val55=)
n.241A>T
Xg.78113877G>ACA10459642PGK1c.250G>A (p.Glu84Lys)
c.166G>A (p.Glu56Lys)
n.242G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78113877G>CCA413719288PGK1c.250G>C (p.Glu84Gln)
c.166G>C (p.Glu56Gln)
n.242G>C
Xg.78113877G=CA2439137075PGK1c.250G= (p.Glu84=)
c.166G= (p.Glu56=)
n.242G=
Xg.78113877G>TCA413719290PGK1c.250G>T (p.Glu84Ter)
c.166G>T (p.Glu56Ter)
n.242G>T
Xg.78113878A>CCA413719293PGK1c.251A>C (p.Glu84Ala)
c.167A>C (p.Glu56Ala)
n.243A>C
Xg.78113878A>GCA413719296PGK1c.251A>G (p.Glu84Gly)
c.167A>G (p.Glu56Gly)
n.243A>G
Xg.78113878A>TCA413719295PGK1c.251A>T (p.Glu84Val)
c.167A>T (p.Glu56Val)
n.243A>T
Xg.78113879A>CCA413719298PGK1c.252A>C (p.Glu84Asp)
c.168A>C (p.Glu56Asp)
n.244A>C
Xg.78113879A>GCA517473385PGK1c.252A>G (p.Glu84=)
c.168A>G (p.Glu56=)
n.244A>G
Xg.78113879A>TCA413719300PGK1c.252A>T (p.Glu84Asp)
c.168A>T (p.Glu56Asp)
n.244A>T
Xg.78113880C>ACA413719302PGK1c.253C>A (p.Leu85Ile)
c.169C>A (p.Leu57Ile)
n.245C>A
Xg.78113880C=CA2439137076PGK1c.253C= (p.Leu85=)
c.169C= (p.Leu57=)
n.245C=
Xg.78113880C>GCA413719303PGK1c.253C>G (p.Leu85Val)
c.169C>G (p.Leu57Val)
n.245C>G
Xg.78113880C>TCA413719305PGK1c.253C>T (p.Leu85Phe)
c.169C>T (p.Leu57Phe)
n.245C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.78113881T>ACA413719308PGK1c.254T>A (p.Leu85His)
c.170T>A (p.Leu57His)
n.246T>A
Xg.78113881T>CCA413719309PGK1c.254T>C (p.Leu85Pro)
c.170T>C (p.Leu57Pro)
n.246T>C
Xg.78113881T>GCA413719312PGK1c.254T>G (p.Leu85Arg)
c.170T>G (p.Leu57Arg)
n.246T>G
Xg.78113882C>ACA517473391PGK1c.255C>A (p.Leu85=)
c.171C>A (p.Leu57=)
n.247C>A
Xg.78113882C>GCA517473390PGK1c.255C>G (p.Leu85=)
c.171C>G (p.Leu57=)
n.247C>G
Xg.78113882C>TCA517473389PGK1c.255C>T (p.Leu85=)
c.171C>T (p.Leu57=)
n.247C>T
Xg.78113883A>CCA413719319PGK1c.256A>C (p.Lys86Gln)
c.172A>C (p.Lys58Gln)
n.248A>C
Xg.78113883A>GCA413719314PGK1c.256A>G (p.Lys86Glu)
c.172A>G (p.Lys58Glu)
n.248A>G
Xg.78113883A>TCA413719317PGK1c.256A>T (p.Lys86Ter)
c.172A>T (p.Lys58Ter)
n.248A>T
Xg.78113885delCA2738742039PGK1c.258del (p.Lys86AsnfsTer11)
c.174del (p.Lys58AsnfsTer11)
n.250del
 dbSNP
Xg.78113884A=CA2439137077PGK1c.257A= (p.Lys86=)
c.173A= (p.Lys58=)
n.249A=
Xg.78113884A>CCA413719321PGK1c.257A>C (p.Lys86Thr)
c.173A>C (p.Lys58Thr)
n.249A>C
Xg.78113884A>GCA413719323PGK1c.257A>G (p.Lys86Arg)
c.173A>G (p.Lys58Arg)
n.249A>G
Xg.78113884A>TCA413719326PGK1c.257A>T (p.Lys86Ile)
c.173A>T (p.Lys58Ile)
n.249A>T
 dbSNP gnomAD v2
Xg.78113885A>CCA413719328PGK1c.258A>C (p.Lys86Asn)
c.174A>C (p.Lys58Asn)
n.250A>C
Xg.78113885A>GCA517473395PGK1c.258A>G (p.Lys86=)
c.174A>G (p.Lys58=)
n.250A>G
Xg.78113885A>TCA413719330PGK1c.258A>T (p.Lys86Asn)
c.174A>T (p.Lys58Asn)
n.250A>T
Xg.78113886T>ACA413719336PGK1c.259T>A (p.Ser87Thr)
c.175T>A (p.Ser59Thr)
n.251T>A
 gnomAD v4
Xg.78113886T>CCA413719333PGK1c.259T>C (p.Ser87Pro)
c.175T>C (p.Ser59Pro)
n.251T>C
Xg.78113886T>GCA413719334PGK1c.259T>G (p.Ser87Ala)
c.175T>G (p.Ser59Ala)
n.251T>G
Xg.78113887C>ACA413719339PGK1c.260C>A (p.Ser87Tyr)
c.176C>A (p.Ser59Tyr)
n.252C>A
Xg.78113887C>GCA413719341PGK1c.260C>G (p.Ser87Cys)
c.176C>G (p.Ser59Cys)
n.252C>G
 gnomAD v4
Xg.78113887C>TCA413719343PGK1c.260C>T (p.Ser87Phe)
c.176C>T (p.Ser59Phe)
n.252C>T
Xg.78113888T>ACA517473397PGK1c.261T>A (p.Ser87=)
c.177T>A (p.Ser59=)
n.253T>A
Xg.78113888T>CCA517473399PGK1c.261T>C (p.Ser87=)
c.177T>C (p.Ser59=)
n.253T>C
Xg.78113888T>GCA517473398PGK1c.261T>G (p.Ser87=)
c.177T>G (p.Ser59=)
n.253T>G
Xg.78113889C>ACA413719345PGK1c.262C>A (p.Leu88Met)
c.178C>A (p.Leu60Met)
n.254C>A
Xg.78113889C>GCA413719347PGK1c.262C>G (p.Leu88Val)
c.178C>G (p.Leu60Val)
n.254C>G
Xg.78113889C>TCA517473400PGK1c.262C>T (p.Leu88=)
c.178C>T (p.Leu60=)
n.254C>T
Xg.78113890T>ACA413719349PGK1c.263T>A (p.Leu88Gln)
c.179T>A (p.Leu60Gln)
n.255T>A
Xg.78113890T>CCA120824PGK1c.263T>C (p.Leu88Pro)
c.179T>C (p.Leu60Pro)
n.255T>C
 ClinVar dbSNP
Xg.78113890T>GCA413719353PGK1c.263T>G (p.Leu88Arg)
c.179T>G (p.Leu60Arg)
n.255T>G
Xg.78113890T=CA2439137078PGK1c.263T= (p.Leu88=)
c.179T= (p.Leu60=)
n.255T=
Xg.78113891G>ACA10459643PGK1c.264G>A (p.Leu88=)
c.180G>A (p.Leu60=)
n.256G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78113891G>CCA517473401PGK1c.264G>C (p.Leu88=)
c.180G>C (p.Leu60=)
n.256G>C
Xg.78113891G=CA2439137079PGK1c.264G= (p.Leu88=)
c.180G= (p.Leu60=)
n.256G=
Xg.78113891G>TCA517473402PGK1c.264G>T (p.Leu88=)
c.180G>T (p.Leu60=)
n.256G>T
Xg.78113892C>ACA413719357PGK1c.265C>A (p.Leu89Met)
c.181C>A (p.Leu61Met)
n.257C>A
Xg.78113892C=CA2439137080PGK1c.265C= (p.Leu89=)
c.181C= (p.Leu61=)
n.257C=
Xg.78113892C>GCA413719359PGK1c.265C>G (p.Leu89Val)
c.181C>G (p.Leu61Val)
n.257C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.78113892C>TCA331585642PGK1c.265C>T (p.Leu89=)
c.181C>T (p.Leu61=)
n.257C>T
 ClinVar dbSNP gnomAD v4
Xg.78113893T>ACA413719363PGK1c.266T>A (p.Leu89Gln)
c.182T>A (p.Leu61Gln)
n.258T>A
Xg.78113893T>CCA413719366PGK1c.266T>C (p.Leu89Pro)
c.182T>C (p.Leu61Pro)
n.258T>C
Xg.78113893T>GCA413719364PGK1c.266T>G (p.Leu89Arg)
c.182T>G (p.Leu61Arg)
n.258T>G
Xg.78113894G>ACA517473405PGK1c.267G>A (p.Leu89=)
c.183G>A (p.Leu61=)
n.259G>A
 COSMIC
Xg.78113894G>CCA517473406PGK1c.267G>C (p.Leu89=)
c.183G>C (p.Leu61=)
n.259G>C
Xg.78113894G>TCA517473407PGK1c.267G>T (p.Leu89=)
c.183G>T (p.Leu61=)
n.259G>T
Xg.78113895G>ACA413719369PGK1c.268G>A (p.Gly90Ser)
c.184G>A (p.Gly62Ser)
n.260G>A
 gnomAD v4
Xg.78113895G>CCA413719372PGK1c.268G>C (p.Gly90Arg)
c.184G>C (p.Gly62Arg)
n.260G>C
Xg.78113895G>TCA413719374PGK1c.268G>T (p.Gly90Cys)
c.184G>T (p.Gly62Cys)
n.260G>T
Xg.78113896G>ACA10459644PGK1c.269G>A (p.Gly90Asp)
c.185G>A (p.Gly62Asp)
n.261G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78113896G>CCA413719376PGK1c.269G>C (p.Gly90Ala)
c.185G>C (p.Gly62Ala)
n.261G>C
Xg.78113896G=CA2439137081PGK1c.269G= (p.Gly90=)
c.185G= (p.Gly62=)
n.261G=
Xg.78113896G>TCA413719377PGK1c.269G>T (p.Gly90Val)
c.185G>T (p.Gly62Val)
n.261G>T
 dbSNP
Xg.78113897C>ACA517473409PGK1c.270C>A (p.Gly90=)
c.186C>A (p.Gly62=)
n.262C>A
Xg.78113897C>GCA517473410PGK1c.270C>G (p.Gly90=)
c.186C>G (p.Gly62=)
n.262C>G
 COSMIC
Xg.78113897C>TCA517473411PGK1c.270C>T (p.Gly90=)
c.186C>T (p.Gly62=)
n.262C>T
Xg.78113898A>CCA413719379PGK1c.271A>C (p.Lys91Gln)
c.187A>C (p.Lys63Gln)
n.263A>C
Xg.78113898A>GCA413719380PGK1c.271A>G (p.Lys91Glu)
c.187A>G (p.Lys63Glu)
n.263A>G
Xg.78113898A>TCA413719383PGK1c.271A>T (p.Lys91Ter)
c.187A>T (p.Lys63Ter)
n.263A>T
Xg.78113899A=CA2439137082PGK1c.272A= (p.Lys91=)
c.188A= (p.Lys63=)
n.264A=
Xg.78113899A>CCA413719386PGK1c.272A>C (p.Lys91Thr)
c.188A>C (p.Lys63Thr)
n.264A>C
Xg.78113899A>GCA10459645PGK1c.272A>G (p.Lys91Arg)
c.188A>G (p.Lys63Arg)
n.264A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78113899A>TCA413719388PGK1c.272A>T (p.Lys91Met)
c.188A>T (p.Lys63Met)
n.264A>T
Xg.78113900G>ACA413719394PGK1c.272+1G>A (n.272+1G>A)
c.188+1G>A (n.188+1G>A)
n.264+1G>A
Xg.78113900G>CCA413719391PGK1c.272+1G>C (n.272+1G>C)
c.188+1G>C (n.188+1G>C)
n.264+1G>C
Xg.78113900G>TCA413719393PGK1c.272+1G>T (n.272+1G>T)
c.188+1G>T (n.188+1G>T)
n.264+1G>T
Xg.78113901_78114016delCA2694155528PGK1c.272+2_273del
c.188+2_189del
n.264+2_265del
 gnomAD v4
Xg.78113901T>ACA413719397PGK1c.272+2T>A (n.272+2T>A)
c.188+2T>A (n.188+2T>A)
n.264+2T>A
Xg.78113901T>CCA413719399PGK1c.272+2T>C (n.272+2T>C)
c.188+2T>C (n.188+2T>C)
n.264+2T>C
Xg.78113901T>GCA413719401PGK1c.272+2T>G (n.272+2T>G)
c.188+2T>G (n.188+2T>G)
n.264+2T>G

Number of alleles fetched