Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.78118095delCA2579650766PGK1c.566del (p.Leu189Ter)
c.482del (p.Leu161Ter)
n.558del
 gnomAD v4
Xg.78118093T>ACA413721439PGK1c.564T>A (p.Phe188Leu)
c.480T>A (p.Phe160Leu)
n.556T>A
Xg.78118093T>CCA517379923PGK1c.564T>C (p.Phe188=)
c.480T>C (p.Phe160=)
n.556T>C
Xg.78118093T>GCA413721440PGK1c.564T>G (p.Phe188Leu)
c.480T>G (p.Phe160Leu)
n.556T>G
Xg.78118094T>ACA413721441PGK1c.565T>A (p.Leu189Met)
c.481T>A (p.Leu161Met)
n.557T>A
Xg.78118094T>CCA517379924PGK1c.565T>C (p.Leu189=)
c.481T>C (p.Leu161=)
n.557T>C
Xg.78118094T>GCA10459734PGK1c.565T>G (p.Leu189Val)
c.481T>G (p.Leu161Val)
n.557T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78118094T=CA2439138591PGK1c.565T= (p.Leu189=)
c.481T= (p.Leu161=)
n.557T=
Xg.78118095T>ACA413721442PGK1c.566T>A (p.Leu189Ter)
c.482T>A (p.Leu161Ter)
n.558T>A
Xg.78118095T>CCA413721443PGK1c.566T>C (p.Leu189Ser)
c.482T>C (p.Leu161Ser)
n.558T>C
Xg.78118095T>GCA413721444PGK1c.566T>G (p.Leu189Trp)
c.482T>G (p.Leu161Trp)
n.558T>G
Xg.78118096G>ACA517379925PGK1c.567G>A (p.Leu189=)
c.483G>A (p.Leu161=)
n.559G>A
 COSMIC
Xg.78118096G>CCA413721445PGK1c.567G>C (p.Leu189Phe)
c.483G>C (p.Leu161Phe)
n.559G>C
Xg.78118096G>TCA413721446PGK1c.567G>T (p.Leu189Phe)
c.483G>T (p.Leu161Phe)
n.559G>T
Xg.78118097A>CCA413721447PGK1c.568A>C (p.Met190Leu)
c.484A>C (p.Met162Leu)
n.560A>C
Xg.78118097A>GCA413721448PGK1c.568A>G (p.Met190Val)
c.484A>G (p.Met162Val)
n.560A>G
Xg.78118097A>TCA413721449PGK1c.568A>T (p.Met190Leu)
c.484A>T (p.Met162Leu)
n.560A>T
Xg.78118098T>ACA413721452PGK1c.569T>A (p.Met190Lys)
c.485T>A (p.Met162Lys)
n.561T>A
Xg.78118098T>CCA413721450PGK1c.569T>C (p.Met190Thr)
c.485T>C (p.Met162Thr)
n.561T>C
Xg.78118098T>GCA413721451PGK1c.569T>G (p.Met190Arg)
c.485T>G (p.Met162Arg)
n.561T>G
Xg.78118098_78118101delinsTGAACA2439138592PGK1c.569_572delinsTGAA (p.Met190=)
c.485_488delinsTGAA (p.Met162=)
n.561_564delinsTGAA
Xg.78118099G>ACA413721453PGK1c.570G>A (p.Met190Ile)
c.486G>A (p.Met162Ile)
n.562G>A
 COSMIC
Xg.78118099G>CCA413721454PGK1c.570G>C (p.Met190Ile)
c.486G>C (p.Met162Ile)
n.562G>C
Xg.78118099G>TCA413721455PGK1c.570G>T (p.Met190Ile)
c.486G>T (p.Met162Ile)
n.562G>T
Xg.78118103_78118105delCA120827PGK1c.574_576del (p.Lys192del)
c.490_492del (p.Lys164del)
n.566_568del
 ClinVar dbSNP
Xg.78118100A>CCA413721456PGK1c.571A>C (p.Lys191Gln)
c.487A>C (p.Lys163Gln)
n.563A>C
Xg.78118100A>GCA413721457PGK1c.571A>G (p.Lys191Glu)
c.487A>G (p.Lys163Glu)
n.563A>G
Xg.78118100A>TCA413721458PGK1c.571A>T (p.Lys191Ter)
c.487A>T (p.Lys163Ter)
n.563A>T
Xg.78118101A>CCA413721459PGK1c.572A>C (p.Lys191Thr)
c.488A>C (p.Lys163Thr)
n.564A>C
Xg.78118101A>GCA413721460PGK1c.572A>G (p.Lys191Arg)
c.488A>G (p.Lys163Arg)
n.564A>G
Xg.78118101A>TCA413721461PGK1c.572A>T (p.Lys191Met)
c.488A>T (p.Lys163Met)
n.564A>T
Xg.78118102G>ACA517379926PGK1c.573G>A (p.Lys191=)
c.489G>A (p.Lys163=)
n.565G>A
Xg.78118102G>CCA413721462PGK1c.573G>C (p.Lys191Asn)
c.489G>C (p.Lys163Asn)
n.565G>C
 gnomAD v4
Xg.78118102G>TCA413721463PGK1c.573G>T (p.Lys191Asn)
c.489G>T (p.Lys163Asn)
n.565G>T
Xg.78118103A>CCA413721465PGK1c.574A>C (p.Lys192Gln)
c.490A>C (p.Lys164Gln)
n.566A>C
Xg.78118103A>GCA413721466PGK1c.574A>G (p.Lys192Glu)
c.490A>G (p.Lys164Glu)
n.566A>G
Xg.78118103A>TCA413721464PGK1c.574A>T (p.Lys192Ter)
c.490A>T (p.Lys164Ter)
n.566A>T
Xg.78118104A=CA2439138593PGK1c.575A= (p.Lys192=)
c.491A= (p.Lys164=)
n.567A=
Xg.78118104A>CCA413721467PGK1c.575A>C (p.Lys192Thr)
c.491A>C (p.Lys164Thr)
n.567A>C
Xg.78118104A>GCA413721468PGK1c.575A>G (p.Lys192Arg)
c.491A>G (p.Lys164Arg)
n.567A>G
Xg.78118104A>TCA10459735PGK1c.575A>T (p.Lys192Met)
c.491A>T (p.Lys164Met)
n.567A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78118105G>ACA517379927PGK1c.576G>A (p.Lys192=)
c.492G>A (p.Lys164=)
n.568G>A
Xg.78118105G>CCA413721469PGK1c.576G>C (p.Lys192Asn)
c.492G>C (p.Lys164Asn)
n.568G>C
 ClinVar
Xg.78118105G>TCA413721470PGK1c.576G>T (p.Lys192Asn)
c.492G>T (p.Lys164Asn)
n.568G>T
Xg.78118106G>ACA413721471PGK1c.577G>A (p.Glu193Lys)
c.493G>A (p.Glu165Lys)
n.569G>A
Xg.78118106G>CCA413721472PGK1c.577G>C (p.Glu193Gln)
c.493G>C (p.Glu165Gln)
n.569G>C
Xg.78118106G>TCA413721473PGK1c.577G>T (p.Glu193Ter)
c.493G>T (p.Glu165Ter)
n.569G>T
Xg.78118107A>CCA413721474PGK1c.578A>C (p.Glu193Ala)
c.494A>C (p.Glu165Ala)
n.570A>C
Xg.78118107A>GCA413721475PGK1c.578A>G (p.Glu193Gly)
c.494A>G (p.Glu165Gly)
n.570A>G
Xg.78118107A>TCA413721476PGK1c.578A>T (p.Glu193Val)
c.494A>T (p.Glu165Val)
n.570A>T
Xg.78118108G>ACA517379928PGK1c.579G>A (p.Glu193=)
c.495G>A (p.Glu165=)
n.571G>A
 gnomAD v4
Xg.78118108G>CCA413721477PGK1c.579G>C (p.Glu193Asp)
c.495G>C (p.Glu165Asp)
n.571G>C
Xg.78118108G>TCA413721478PGK1c.579G>T (p.Glu193Asp)
c.495G>T (p.Glu165Asp)
n.571G>T
Xg.78118109C>ACA413721480PGK1c.580C>A (p.Leu194Met)
c.496C>A (p.Leu166Met)
n.572C>A
Xg.78118109C>GCA413721479PGK1c.580C>G (p.Leu194Val)
c.496C>G (p.Leu166Val)
n.572C>G
Xg.78118109C>TCA517379930PGK1c.580C>T (p.Leu194=)
c.496C>T (p.Leu166=)
n.572C>T
Xg.78118110T>ACA413721481PGK1c.581T>A (p.Leu194Gln)
c.497T>A (p.Leu166Gln)
n.573T>A
Xg.78118110T>CCA413721482PGK1c.581T>C (p.Leu194Pro)
c.497T>C (p.Leu166Pro)
n.573T>C
Xg.78118110T>GCA413721483PGK1c.581T>G (p.Leu194Arg)
c.497T>G (p.Leu166Arg)
n.573T>G
Xg.78118111G>ACA517379931PGK1c.582G>A (p.Leu194=)
c.498G>A (p.Leu166=)
n.574G>A
 gnomAD v4
Xg.78118111G>CCA517379932PGK1c.582G>C (p.Leu194=)
c.498G>C (p.Leu166=)
n.574G>C
Xg.78118111G>TCA517379933PGK1c.582G>T (p.Leu194=)
c.498G>T (p.Leu166=)
n.574G>T
Xg.78118112A>CCA413721484PGK1c.583A>C (p.Asn195His)
c.499A>C (p.Asn167His)
n.575A>C
Xg.78118112A>GCA413721485PGK1c.583A>G (p.Asn195Asp)
c.499A>G (p.Asn167Asp)
n.575A>G
Xg.78118112A>TCA413721486PGK1c.583A>T (p.Asn195Tyr)
c.499A>T (p.Asn167Tyr)
n.575A>T
Xg.78118113A>CCA413721489PGK1c.584A>C (p.Asn195Thr)
c.500A>C (p.Asn167Thr)
n.576A>C
Xg.78118113A>GCA413721487PGK1c.584A>G (p.Asn195Ser)
c.500A>G (p.Asn167Ser)
n.576A>G
 COSMIC
Xg.78118113A>TCA413721488PGK1c.584A>T (p.Asn195Ile)
c.500A>T (p.Asn167Ile)
n.576A>T
Xg.78118114C>ACA413721490PGK1c.585C>A (p.Asn195Lys)
c.501C>A (p.Asn167Lys)
n.577C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.78118114C=CA2439138594PGK1c.585C= (p.Asn195=)
c.501C= (p.Asn167=)
n.577C=
Xg.78118114C>GCA413721491PGK1c.585C>G (p.Asn195Lys)
c.501C>G (p.Asn167Lys)
n.577C>G
Xg.78118114C>TCA517379934PGK1c.585C>T (p.Asn195=)
c.501C>T (p.Asn167=)
n.577C>T
Xg.78118115delCA2579650767PGK1c.586del (p.Tyr196ThrfsTer?)
c.502del (p.Tyr168ThrfsTer?)
n.578del
Xg.78118115T>ACA413721492PGK1c.586T>A (p.Tyr196Asn)
c.502T>A (p.Tyr168Asn)
n.578T>A
Xg.78118115T>CCA413721493PGK1c.586T>C (p.Tyr196His)
c.502T>C (p.Tyr168His)
n.578T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.78118115T>GCA413721494PGK1c.586T>G (p.Tyr196Asp)
c.502T>G (p.Tyr168Asp)
n.578T>G
Xg.78118115T=CA2439138595PGK1c.586T= (p.Tyr196=)
c.502T= (p.Tyr168=)
n.578T=
Xg.78118116A=CA2439138596PGK1c.587A= (p.Tyr196=)
c.503A= (p.Tyr168=)
n.579A=
Xg.78118116A>CCA413721495PGK1c.587A>C (p.Tyr196Ser)
c.503A>C (p.Tyr168Ser)
n.579A>C
Xg.78118116A>GCA413721497PGK1c.587A>G (p.Tyr196Cys)
c.503A>G (p.Tyr168Cys)
n.579A>G
 dbSNP gnomAD v2
Xg.78118116A>TCA413721496PGK1c.587A>T (p.Tyr196Phe)
c.503A>T (p.Tyr168Phe)
n.579A>T
Xg.78118117C>ACA413721498PGK1c.588C>A (p.Tyr196Ter)
c.504C>A (p.Tyr168Ter)
n.580C>A
Xg.78118117C>GCA413721499PGK1c.588C>G (p.Tyr196Ter)
c.504C>G (p.Tyr168Ter)
n.580C>G
Xg.78118117C>TCA517379935PGK1c.588C>T (p.Tyr196=)
c.504C>T (p.Tyr168=)
n.580C>T
Xg.78118118T>ACA413721500PGK1c.589T>A (p.Phe197Ile)
c.505T>A (p.Phe169Ile)
n.581T>A
 COSMIC
Xg.78118118T>CCA413721501PGK1c.589T>C (p.Phe197Leu)
c.505T>C (p.Phe169Leu)
n.581T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.78118118T>GCA413721502PGK1c.589T>G (p.Phe197Val)
c.505T>G (p.Phe169Val)
n.581T>G
Xg.78118118T=CA2439138597PGK1c.589T= (p.Phe197=)
c.505T= (p.Phe169=)
n.581T=
Xg.78118119T>ACA413721503PGK1c.590T>A (p.Phe197Tyr)
c.506T>A (p.Phe169Tyr)
n.582T>A
Xg.78118119T>CCA413721504PGK1c.590T>C (p.Phe197Ser)
c.506T>C (p.Phe169Ser)
n.582T>C
Xg.78118119T>GCA413721505PGK1c.590T>G (p.Phe197Cys)
c.506T>G (p.Phe169Cys)
n.582T>G
Xg.78118120T>ACA413721506PGK1c.591T>A (p.Phe197Leu)
c.507T>A (p.Phe169Leu)
n.583T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.78118120T>CCA517379936PGK1c.591T>C (p.Phe197=)
c.507T>C (p.Phe169=)
n.583T>C
Xg.78118120T>GCA413721507PGK1c.591T>G (p.Phe197Leu)
c.507T>G (p.Phe169Leu)
n.583T>G
Xg.78118120T=CA2439138598PGK1c.591T= (p.Phe197=)
c.507T= (p.Phe169=)
n.583T=
Xg.78118121G>ACA413721508PGK1c.592G>A (p.Ala198Thr)
c.508G>A (p.Ala170Thr)
n.584G>A
Xg.78118121G>CCA413721509PGK1c.592G>C (p.Ala198Pro)
c.508G>C (p.Ala170Pro)
n.584G>C
Xg.78118121G>TCA413721510PGK1c.592G>T (p.Ala198Ser)
c.508G>T (p.Ala170Ser)
n.584G>T
Xg.78118122delCA2579650768PGK1c.593del (p.Ala198GlufsTer?)
c.509del (p.Ala170GlufsTer?)
n.585del
Xg.78118122C>ACA413721513PGK1c.593C>A (p.Ala198Glu)
c.509C>A (p.Ala170Glu)
n.585C>A
Xg.78118122C>GCA413721511PGK1c.593C>G (p.Ala198Gly)
c.509C>G (p.Ala170Gly)
n.585C>G
Xg.78118122C>TCA413721512PGK1c.593C>T (p.Ala198Val)
c.509C>T (p.Ala170Val)
n.585C>T
Xg.78118123A>CCA517379939PGK1c.594A>C (p.Ala198=)
c.510A>C (p.Ala170=)
n.586A>C
Xg.78118123A>GCA517379940PGK1c.594A>G (p.Ala198=)
c.510A>G (p.Ala170=)
n.586A>G
Xg.78118123A>TCA517379941PGK1c.594A>T (p.Ala198=)
c.510A>T (p.Ala170=)
n.586A>T
Xg.78118124A>CCA413721514PGK1c.595A>C (p.Lys199Gln)
c.511A>C (p.Lys171Gln)
n.587A>C
Xg.78118124A>GCA413721515PGK1c.595A>G (p.Lys199Glu)
c.511A>G (p.Lys171Glu)
n.587A>G
 gnomAD v4
Xg.78118124A>TCA413721516PGK1c.595A>T (p.Lys199Ter)
c.511A>T (p.Lys171Ter)
n.587A>T
Xg.78118125A=CA2439138599PGK1c.596A= (p.Lys199=)
c.512A= (p.Lys171=)
n.588A=
Xg.78118125A>CCA413721517PGK1c.596A>C (p.Lys199Thr)
c.512A>C (p.Lys171Thr)
n.588A>C
 dbSNP gnomAD v2 gnomAD v4
Xg.78118125A>GCA413721518PGK1c.596A>G (p.Lys199Arg)
c.512A>G (p.Lys171Arg)
n.588A>G
Xg.78118125A>TCA413721519PGK1c.596A>T (p.Lys199Met)
c.512A>T (p.Lys171Met)
n.588A>T
Xg.78118126G>ACA517379942PGK1c.597G>A (p.Lys199=)
c.513G>A (p.Lys171=)
n.589G>A
Xg.78118126G>CCA413721520PGK1c.597G>C (p.Lys199Asn)
c.513G>C (p.Lys171Asn)
n.589G>C
Xg.78118126G>TCA413721521PGK1c.597G>T (p.Lys199Asn)
c.513G>T (p.Lys171Asn)
n.589G>T
Xg.78118127G>ACA413721522PGK1c.598G>A (p.Ala200Thr)
c.514G>A (p.Ala172Thr)
n.590G>A
Xg.78118127G>CCA413721523PGK1c.598G>C (p.Ala200Pro)
c.514G>C (p.Ala172Pro)
n.590G>C
Xg.78118127G>TCA413721524PGK1c.598G>T (p.Ala200Ser)
c.514G>T (p.Ala172Ser)
n.590G>T
Xg.78118128C>ACA413721527PGK1c.599C>A (p.Ala200Asp)
c.515C>A (p.Ala172Asp)
n.591C>A
Xg.78118128C=CA2439138600PGK1c.599C= (p.Ala200=)
c.515C= (p.Ala172=)
n.591C=
Xg.78118128C>GCA413721526PGK1c.599C>G (p.Ala200Gly)
c.515C>G (p.Ala172Gly)
n.591C>G
Xg.78118128C>TCA413721525PGK1c.599C>T (p.Ala200Val)
c.515C>T (p.Ala172Val)
n.591C>T
 dbSNP gnomAD v4 COSMIC
Xg.78118129C>ACA10459736PGK1c.600C>A (p.Ala200=)
c.516C>A (p.Ala172=)
n.592C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78118129C=CA2439138601PGK1c.600C= (p.Ala200=)
c.516C= (p.Ala172=)
n.592C=
Xg.78118129C>GCA517379944PGK1c.600C>G (p.Ala200=)
c.516C>G (p.Ala172=)
n.592C>G
Xg.78118129C>TCA517379945PGK1c.600C>T (p.Ala200=)
c.516C>T (p.Ala172=)
n.592C>T
 gnomAD v4
Xg.78118130T>ACA413721529PGK1c.601T>A (p.Leu201Met)
c.517T>A (p.Leu173Met)
n.593T>A
Xg.78118130T>CCA517379946PGK1c.601T>C (p.Leu201=)
c.517T>C (p.Leu173=)
n.593T>C
Xg.78118130T>GCA413721528PGK1c.601T>G (p.Leu201Val)
c.517T>G (p.Leu173Val)
n.593T>G
Xg.78118131T>ACA413721530PGK1c.602T>A (p.Leu201Ter)
c.518T>A (p.Leu173Ter)
n.594T>A
Xg.78118131T>CCA413721531PGK1c.602T>C (p.Leu201Ser)
c.518T>C (p.Leu173Ser)
n.594T>C
Xg.78118131T>GCA413721532PGK1c.602T>G (p.Leu201Trp)
c.518T>G (p.Leu173Trp)
n.594T>G
Xg.78118132G>ACA517379947PGK1c.603G>A (p.Leu201=)
c.519G>A (p.Leu173=)
n.595G>A
Xg.78118132G>CCA413721533PGK1c.603G>C (p.Leu201Phe)
c.519G>C (p.Leu173Phe)
n.595G>C
Xg.78118132G>TCA413721534PGK1c.603G>T (p.Leu201Phe)
c.519G>T (p.Leu173Phe)
n.595G>T
Xg.78118133G>ACA413721537PGK1c.604G>A (p.Glu202Lys)
c.520G>A (p.Glu174Lys)
n.596G>A
Xg.78118133G>CCA413721535PGK1c.604G>C (p.Glu202Gln)
c.520G>C (p.Glu174Gln)
n.596G>C
Xg.78118133G>TCA413721536PGK1c.604G>T (p.Glu202Ter)
c.520G>T (p.Glu174Ter)
n.596G>T
Xg.78118134A>CCA413721538PGK1c.605A>C (p.Glu202Ala)
c.521A>C (p.Glu174Ala)
n.597A>C
Xg.78118134A>GCA413721539PGK1c.605A>G (p.Glu202Gly)
c.521A>G (p.Glu174Gly)
n.597A>G
 gnomAD v4
Xg.78118134A>TCA413721540PGK1c.605A>T (p.Glu202Val)
c.521A>T (p.Glu174Val)
n.597A>T
Xg.78118135G>ACA331585864PGK1c.606G>A (p.Glu202=)
c.522G>A (p.Glu174=)
n.598G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.78118135G>CCA413721541PGK1c.606G>C (p.Glu202Asp)
c.522G>C (p.Glu174Asp)
n.598G>C
 gnomAD v4
Xg.78118135G=CA2439138602PGK1c.606G= (p.Glu202=)
c.522G= (p.Glu174=)
n.598G=
Xg.78118135G>TCA413721542PGK1c.606G>T (p.Glu202Asp)
c.522G>T (p.Glu174Asp)
n.598G>T
 gnomAD v4
Xg.78118136A>CCA413721543PGK1c.607A>C (p.Ser203Arg)
c.523A>C (p.Ser175Arg)
n.599A>C
Xg.78118136A>GCA413721545PGK1c.607A>G (p.Ser203Gly)
c.523A>G (p.Ser175Gly)
n.599A>G
Xg.78118136A>TCA413721544PGK1c.607A>T (p.Ser203Cys)
c.523A>T (p.Ser175Cys)
n.599A>T
 gnomAD v4
Xg.78118137G>ACA10459737PGK1c.608G>A (p.Ser203Asn)
c.524G>A (p.Ser175Asn)
n.600G>A
 dbSNP ExAC gnomAD v2
Xg.78118137G>CCA413721546PGK1c.608G>C (p.Ser203Thr)
c.524G>C (p.Ser175Thr)
n.600G>C
Xg.78118137G=CA2439138603PGK1c.608G= (p.Ser203=)
c.524G= (p.Ser175=)
n.600G=
Xg.78118137G>TCA413721547PGK1c.608G>T (p.Ser203Ile)
c.524G>T (p.Ser175Ile)
n.600G>T
 dbSNP gnomAD v3 gnomAD v4
Xg.78118138C>ACA413721548PGK1c.609C>A (p.Ser203Arg)
c.525C>A (p.Ser175Arg)
n.601C>A
Xg.78118138C>GCA413721549PGK1c.609C>G (p.Ser203Arg)
c.525C>G (p.Ser175Arg)
n.601C>G
Xg.78118138C>TCA517379949PGK1c.609C>T (p.Ser203=)
c.525C>T (p.Ser175=)
n.601C>T
 gnomAD v4
Xg.78118139C>ACA413721550PGK1c.610C>A (p.Pro204Thr)
c.526C>A (p.Pro176Thr)
n.602C>A
Xg.78118139C>GCA413721551PGK1c.610C>G (p.Pro204Ala)
c.526C>G (p.Pro176Ala)
n.602C>G
Xg.78118139C>TCA413721552PGK1c.610C>T (p.Pro204Ser)
c.526C>T (p.Pro176Ser)
n.602C>T
Xg.78118140C>ACA413721553PGK1c.611C>A (p.Pro204Gln)
c.527C>A (p.Pro176Gln)
n.603C>A
Xg.78118140C>GCA413721554PGK1c.611C>G (p.Pro204Arg)
c.527C>G (p.Pro176Arg)
n.603C>G
Xg.78118140C>TCA413721555PGK1c.611C>T (p.Pro204Leu)
c.527C>T (p.Pro176Leu)
n.603C>T
Xg.78118141A>CCA517379950PGK1c.612A>C (p.Pro204=)
c.528A>C (p.Pro176=)
n.604A>C
Xg.78118141A>GCA517379951PGK1c.612A>G (p.Pro204=)
c.528A>G (p.Pro176=)
n.604A>G
Xg.78118141A>TCA517379952PGK1c.612A>T (p.Pro204=)
c.528A>T (p.Pro176=)
n.604A>T
Xg.78118142G>ACA413721556PGK1c.613G>A (p.Glu205Lys)
c.529G>A (p.Glu177Lys)
n.605G>A
 COSMIC
Xg.78118142G>CCA413721560PGK1c.613G>C (p.Glu205Gln)
c.529G>C (p.Glu177Gln)
n.605G>C
Xg.78118142G>TCA413721558PGK1c.613G>T (p.Glu205Ter)
c.529G>T (p.Glu177Ter)
n.605G>T
Xg.78118143A>CCA413721561PGK1c.614A>C (p.Glu205Ala)
c.530A>C (p.Glu177Ala)
n.606A>C
Xg.78118143A>GCA413721563PGK1c.614A>G (p.Glu205Gly)
c.530A>G (p.Glu177Gly)
n.606A>G
Xg.78118143A>TCA413721565PGK1c.614A>T (p.Glu205Val)
c.530A>T (p.Glu177Val)
n.606A>T
Xg.78118144G>ACA517379961PGK1c.615G>A (p.Glu205=)
c.531G>A (p.Glu177=)
n.607G>A
 dbSNP
Xg.78118144G>CCA413721566PGK1c.615G>C (p.Glu205Asp)
c.531G>C (p.Glu177Asp)
n.607G>C
Xg.78118144G=CA2439138604PGK1c.615G= (p.Glu205=)
c.531G= (p.Glu177=)
n.607G=
Xg.78118144G>TCA413721568PGK1c.615G>T (p.Glu205Asp)
c.531G>T (p.Glu177Asp)
n.607G>T
Xg.78118145C>ACA517379965PGK1c.616C>A (p.Arg206=)
c.532C>A (p.Arg178=)
n.608C>A
Xg.78118145C>GCA413721570PGK1c.616C>G (p.Arg206Gly)
c.532C>G (p.Arg178Gly)
n.608C>G
Xg.78118145C>TCA413721572PGK1c.616C>T (p.Arg206Ter)
c.532C>T (p.Arg178Ter)
n.608C>T
 gnomAD v4
Xg.78118146G>ACA413721573PGK1c.617G>A (p.Arg206Gln)
c.533G>A (p.Arg178Gln)
n.609G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.78118146G>CCA120820PGK1c.617G>C (p.Arg206Pro)
c.533G>C (p.Arg178Pro)
n.609G>C
 ClinVar dbSNP
Xg.78118146G=CA2439138605PGK1c.617G= (p.Arg206=)
c.533G= (p.Arg178=)
n.609G=
Xg.78118146G>TCA413721575PGK1c.617G>T (p.Arg206Leu)
c.533G>T (p.Arg178Leu)
n.609G>T
Xg.78118147A=CA2439138606PGK1c.618A= (p.Arg206=)
c.534A= (p.Arg178=)
n.610A=
Xg.78118147A>CCA517379973PGK1c.618A>C (p.Arg206=)
c.534A>C (p.Arg178=)
n.610A>C
Xg.78118147A>GCA517379976PGK1c.618A>G (p.Arg206=)
c.534A>G (p.Arg178=)
n.610A>G
Xg.78118147A>TCA517379974PGK1c.618A>T (p.Arg206=)
c.534A>T (p.Arg178=)
n.610A>T
 dbSNP
Xg.78118148C>ACA413721577PGK1c.619C>A (p.Pro207Thr)
c.535C>A (p.Pro179Thr)
n.611C>A
 gnomAD v4
Xg.78118148C>GCA413721579PGK1c.619C>G (p.Pro207Ala)
c.535C>G (p.Pro179Ala)
n.611C>G
Xg.78118148C>TCA413721581PGK1c.619C>T (p.Pro207Ser)
c.535C>T (p.Pro179Ser)
n.611C>T
 gnomAD v4
Xg.78118149C>ACA413721582PGK1c.620C>A (p.Pro207His)
c.536C>A (p.Pro179His)
n.612C>A
Xg.78118149C=CA2439138607PGK1c.620C= (p.Pro207=)
c.536C= (p.Pro179=)
n.612C=
Xg.78118149C>GCA413721585PGK1c.620C>G (p.Pro207Arg)
c.536C>G (p.Pro179Arg)
n.612C>G
Xg.78118149C>TCA413721584PGK1c.620C>T (p.Pro207Leu)
c.536C>T (p.Pro179Leu)
n.612C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.78118150C>ACA517379984PGK1c.621C>A (p.Pro207=)
c.537C>A (p.Pro179=)
n.613C>A
 gnomAD v4
Xg.78118150C>GCA517379985PGK1c.621C>G (p.Pro207=)
c.537C>G (p.Pro179=)
n.613C>G
Xg.78118150C>TCA517379988PGK1c.621C>T (p.Pro207=)
c.537C>T (p.Pro179=)
n.613C>T
Xg.78118151T>ACA413721588PGK1c.622T>A (p.Phe208Ile)
c.538T>A (p.Phe180Ile)
n.614T>A
Xg.78118151T>CCA413721590PGK1c.622T>C (p.Phe208Leu)
c.538T>C (p.Phe180Leu)
n.614T>C
Xg.78118151T>GCA413721591PGK1c.622T>G (p.Phe208Val)
c.538T>G (p.Phe180Val)
n.614T>G
Xg.78118152T>ACA413721593PGK1c.623T>A (p.Phe208Tyr)
c.539T>A (p.Phe180Tyr)
n.615T>A
Xg.78118152T>CCA413721594PGK1c.623T>C (p.Phe208Ser)
c.539T>C (p.Phe180Ser)
n.615T>C
Xg.78118152T>GCA413721596PGK1c.623T>G (p.Phe208Cys)
c.539T>G (p.Phe180Cys)
n.615T>G
Xg.78118153C>ACA413721598PGK1c.624C>A (p.Phe208Leu)
c.540C>A (p.Phe180Leu)
n.616C>A
Xg.78118153C>GCA413721600PGK1c.624C>G (p.Phe208Leu)
c.540C>G (p.Phe180Leu)
n.616C>G
 gnomAD v4
Xg.78118153C>TCA517380002PGK1c.624C>T (p.Phe208=)
c.540C>T (p.Phe180=)
n.616C>T
Xg.78118154C>ACA413721602PGK1c.625C>A (p.Leu209Met)
c.541C>A (p.Leu181Met)
n.617C>A
Xg.78118154C=CA2439138608PGK1c.625C= (p.Leu209=)
c.541C= (p.Leu181=)
n.617C=
Xg.78118154C>GCA413721603PGK1c.625C>G (p.Leu209Val)
c.541C>G (p.Leu181Val)
n.617C>G
Xg.78118154C>TCA517380007PGK1c.625C>T (p.Leu209=)
c.541C>T (p.Leu181=)
n.617C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.78118155T>ACA413721606PGK1c.626T>A (p.Leu209Gln)
c.542T>A (p.Leu181Gln)
n.618T>A
 gnomAD v4
Xg.78118155T>CCA413721608PGK1c.626T>C (p.Leu209Pro)
c.542T>C (p.Leu181Pro)
n.618T>C
Xg.78118155T>GCA413721605PGK1c.626T>G (p.Leu209Arg)
c.542T>G (p.Leu181Arg)
n.618T>G
Xg.78118156G>ACA517380015PGK1c.627G>A (p.Leu209=)
c.543G>A (p.Leu181=)
n.619G>A
Xg.78118156G>CCA517380016PGK1c.627G>C (p.Leu209=)
c.543G>C (p.Leu181=)
n.619G>C
Xg.78118156G>TCA517380020PGK1c.627G>T (p.Leu209=)
c.543G>T (p.Leu181=)
n.619G>T
 COSMIC
Xg.78118157G>ACA413721614PGK1c.628G>A (p.Ala210Thr)
c.544G>A (p.Ala182Thr)
n.620G>A
Xg.78118157G>CCA413721611PGK1c.628G>C (p.Ala210Pro)
c.544G>C (p.Ala182Pro)
n.620G>C
Xg.78118157G>TCA413721612PGK1c.628G>T (p.Ala210Ser)
c.544G>T (p.Ala182Ser)
n.620G>T
Xg.78118158C>ACA413721616PGK1c.629C>A (p.Ala210Asp)
c.545C>A (p.Ala182Asp)
n.621C>A
Xg.78118158C>GCA413721618PGK1c.629C>G (p.Ala210Gly)
c.545C>G (p.Ala182Gly)
n.621C>G
Xg.78118158C>TCA413721619PGK1c.629C>T (p.Ala210Val)
c.545C>T (p.Ala182Val)
n.621C>T
Xg.78118159C>ACA517380028PGK1c.630C>A (p.Ala210=)
c.546C>A (p.Ala182=)
n.622C>A
Xg.78118159C>GCA517380029PGK1c.630C>G (p.Ala210=)
c.546C>G (p.Ala182=)
n.622C>G
Xg.78118159C>TCA517380032PGK1c.630C>T (p.Ala210=)
c.546C>T (p.Ala182=)
n.622C>T
Xg.78118160A>CCA413721622PGK1c.631A>C (p.Ile211Leu)
c.547A>C (p.Ile183Leu)
n.623A>C
Xg.78118160A>GCA413721623PGK1c.631A>G (p.Ile211Val)
c.547A>G (p.Ile183Val)
n.623A>G
 gnomAD v4
Xg.78118160A>TCA413721625PGK1c.631A>T (p.Ile211Phe)
c.547A>T (p.Ile183Phe)
n.623A>T
Xg.78118161T>ACA413721627PGK1c.632T>A (p.Ile211Asn)
c.548T>A (p.Ile183Asn)
n.624T>A
Xg.78118161T>CCA413721628PGK1c.632T>C (p.Ile211Thr)
c.548T>C (p.Ile183Thr)
n.624T>C
Xg.78118161T>GCA413721630PGK1c.632T>G (p.Ile211Ser)
c.548T>G (p.Ile183Ser)
n.624T>G
Xg.78118162C>ACA517380038PGK1c.633C>A (p.Ile211=)
c.549C>A (p.Ile183=)
n.625C>A
Xg.78118162C>GCA413721633PGK1c.633C>G (p.Ile211Met)
c.549C>G (p.Ile183Met)
n.625C>G
Xg.78118162C>TCA517380041PGK1c.633C>T (p.Ile211=)
c.549C>T (p.Ile183=)
n.625C>T
Xg.78118163C>ACA413721636PGK1c.634C>A (p.Leu212Met)
c.550C>A (p.Leu184Met)
n.626C>A
Xg.78118163C>GCA413721634PGK1c.634C>G (p.Leu212Val)
c.550C>G (p.Leu184Val)
n.626C>G
 gnomAD v4
Xg.78118163C>TCA517380047PGK1c.634C>T (p.Leu212=)
c.550C>T (p.Leu184=)
n.626C>T
Xg.78118164T>ACA413721638PGK1c.635T>A (p.Leu212Gln)
c.551T>A (p.Leu184Gln)
n.627T>A
Xg.78118164T>CCA413721640PGK1c.635T>C (p.Leu212Pro)
c.551T>C (p.Leu184Pro)
n.627T>C
Xg.78118164T>GCA413721641PGK1c.635T>G (p.Leu212Arg)
c.551T>G (p.Leu184Arg)
n.627T>G
Xg.78118165G>ACA517380052PGK1c.636G>A (p.Leu212=)
c.552G>A (p.Leu184=)
n.628G>A
 gnomAD v4
Xg.78118165G>CCA517380054PGK1c.636G>C (p.Leu212=)
c.552G>C (p.Leu184=)
n.628G>C
Xg.78118165G>TCA517380056PGK1c.636G>T (p.Leu212=)
c.552G>T (p.Leu184=)
n.628G>T
Xg.78118168_78118171delCA2695234624PGK1c.639_641+1del
c.555_557+1del
n.631_633+1del
Xg.78118166G>ACA413721642PGK1c.637G>A (p.Gly213Ser)
c.553G>A (p.Gly185Ser)
n.629G>A
Xg.78118166G>CCA413721644PGK1c.637G>C (p.Gly213Arg)
c.553G>C (p.Gly185Arg)
n.629G>C
Xg.78118166G>TCA413721646PGK1c.637G>T (p.Gly213Cys)
c.553G>T (p.Gly185Cys)
n.629G>T
Xg.78118168_78118170delCA2694155917PGK1c.639_641del (p.Gly214del)
c.555_557del (p.Gly186del)
n.631_633del
 gnomAD v4
Xg.78118167G>ACA413721648PGK1c.638G>A (p.Gly213Asp)
c.554G>A (p.Gly185Asp)
n.630G>A
Xg.78118167G>CCA413721649PGK1c.638G>C (p.Gly213Ala)
c.554G>C (p.Gly185Ala)
n.630G>C
Xg.78118167G>TCA413721651PGK1c.638G>T (p.Gly213Val)
c.554G>T (p.Gly185Val)
n.630G>T
Xg.78118168C>ACA517380077PGK1c.639C>A (p.Gly213=)
c.555C>A (p.Gly185=)
n.631C>A
Xg.78118168C=CA2439138609PGK1c.639C= (p.Gly213=)
c.555C= (p.Gly185=)
n.631C=
Xg.78118168C>GCA517380079PGK1c.639C>G (p.Gly213=)
c.555C>G (p.Gly185=)
n.631C>G
Xg.78118168C>TCA234548PGK1c.639C>T (p.Gly213=)
c.555C>T (p.Gly185=)
n.631C>T
 ClinVar dbSNP
Xg.78118169G>ACA413721653PGK1c.640G>A (p.Gly214Arg)
c.556G>A (p.Gly186Arg)
n.632G>A
 gnomAD v4
Xg.78118169G>CCA413721655PGK1c.640G>C (p.Gly214Arg)
c.556G>C (p.Gly186Arg)
n.632G>C
Xg.78118169G>TCA413721657PGK1c.640G>T (p.Gly214Ter)
c.556G>T (p.Gly186Ter)
n.632G>T
Xg.78118170G>ACA413721661PGK1c.641G>A (p.Gly214Glu)
c.557G>A (p.Gly186Glu)
n.633G>A
Xg.78118170G>CCA413721662PGK1c.641G>C (p.Gly214Ala)
c.557G>C (p.Gly186Ala)
n.633G>C
Xg.78118170G>TCA413721659PGK1c.641G>T (p.Gly214Val)
c.557G>T (p.Gly186Val)
n.633G>T
Xg.78118171G>ACA413721664PGK1c.641+1G>A (n.641+1G>A)
c.557+1G>A (n.557+1G>A)
n.633+1G>A
Xg.78118171G>CCA413721666PGK1c.641+1G>C (n.641+1G>C)
c.557+1G>C (n.557+1G>C)
n.633+1G>C
Xg.78118171G>TCA413721668PGK1c.641+1G>T (n.641+1G>T)
c.557+1G>T (n.557+1G>T)
n.633+1G>T
Xg.78118172T>ACA413721670PGK1c.641+2T>A (n.641+2T>A)
c.557+2T>A (n.557+2T>A)
n.633+2T>A
Xg.78118172T>CCA413721672PGK1c.641+2T>C (n.641+2T>C)
c.557+2T>C (n.557+2T>C)
n.633+2T>C
 COSMIC
Xg.78118172T>GCA413721674PGK1c.641+2T>G (n.641+2T>G)
c.557+2T>G (n.557+2T>G)
n.633+2T>G
Xg.78118173A=CA2439138610PGK1c.641+3A= (n.641+3A=)
c.557+3A= (n.557+3A=)
n.633+3A=
Xg.78118173A>GCA642709314PGK1c.641+3A>G (n.641+3A>G)
c.557+3A>G (n.557+3A>G)
n.633+3A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.78118174T>CCA2573159564PGK1c.641+4T>C (n.641+4T>C)
c.557+4T>C (n.557+4T>C)
n.633+4T>C
 ClinVar dbSNP
Xg.78118175G>ACA642709315PGK1c.641+5G>A (n.641+5G>A)
c.557+5G>A (n.557+5G>A)
n.633+5G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.78118175G=CA2439138611PGK1c.641+5G= (n.641+5G=)
c.557+5G= (n.557+5G=)
n.633+5G=
Xg.78118176A>GCA2536811268PGK1c.641+6A>G (n.641+6A>G)
c.557+6A>G (n.557+6A>G)
n.633+6A>G
Xg.78118180A=CA2439138612PGK1c.641+10A= (n.641+10A=)
c.557+10A= (n.557+10A=)
n.633+10A=
Xg.78118180A>GCA642709316PGK1c.641+10A>G (n.641+10A>G)
c.557+10A>G (n.557+10A>G)
n.633+10A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.78118181C=CA2439138613PGK1c.641+11C= (n.641+11C=)
c.557+11C= (n.557+11C=)
n.633+11C=
Xg.78118181C>TCA1134521324PGK1c.641+11C>T (n.641+11C>T)
c.557+11C>T (n.557+11C>T)
n.633+11C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.78118182_78118183insACA2519723225PGK1c.641+12_641+13insA (n.641+12_641+13insA)
c.557+12_557+13insA (n.557+12_557+13insA)
n.633+12_633+13insA
Xg.78118183C=CA2439138614PGK1c.641+13C= (n.641+13C=)
c.557+13C= (n.557+13C=)
n.633+13C=
Xg.78118183C>GCA1134521330PGK1c.641+13C>G (n.641+13C>G)
c.557+13C>G (n.557+13C>G)
n.633+13C>G
 dbSNP gnomAD v3 gnomAD v4
Xg.78118183C>TCA2439138615PGK1c.641+13C>T (n.641+13C>T)
c.557+13C>T (n.557+13C>T)
n.633+13C>T
 dbSNP
Xg.78118184T>CCA2694155918PGK1c.641+14T>C (n.641+14T>C)
c.557+14T>C (n.557+14T>C)
n.633+14T>C
 gnomAD v4
Xg.78118184_78118186delCA2570729361PGK1c.641+14_641+16del (n.641+14_641+16del)
c.557+14_557+16del (n.557+14_557+16del)
n.633+14_633+16del
Xg.78118186dupCA2579650769PGK1c.641+16dup (n.641+16dup)
c.557+16dup (n.557+16dup)
n.633+16dup
 gnomAD v4
Xg.78118186_78118187delinsTACA2439138616PGK1c.641+16_641+17delinsTA (n.641+16_641+17delinsTA)
c.557+16_557+17delinsTA (n.557+16_557+17delinsTA)
n.633+16_633+17delinsTA
Xg.78118188delCA2439138617PGK1c.641+18del (n.641+18del)
c.557+18del (n.557+18del)
n.633+18del
 dbSNP
Xg.78118192delCA2694155919PGK1c.641+22del (n.641+22del)
c.557+22del (n.557+22del)
n.633+22del
 gnomAD v4
Xg.78118192C>GCA2579650770PGK1c.641+22C>G (n.641+22C>G)
c.557+22C>G (n.557+22C>G)
n.633+22C>G
 gnomAD v4
Xg.78118192C>TCA2694155920PGK1c.641+22C>T (n.641+22C>T)
c.557+22C>T (n.557+22C>T)
n.633+22C>T
 gnomAD v4
Xg.78118193A>TCA2579650771PGK1c.641+23A>T (n.641+23A>T)
c.557+23A>T (n.557+23A>T)
n.633+23A>T

Number of alleles fetched