Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.78123315G>ACA413716804PGK1c.877G>A (p.Asp293Asn)
c.793G>A (p.Asp265Asn)
n.284G>A
 gnomAD v4
Xg.78123315G>CCA413716805PGK1c.877G>C (p.Asp293His)
c.793G>C (p.Asp265His)
n.284G>C
 COSMIC
Xg.78123315G>TCA413716806PGK1c.877G>T (p.Asp293Tyr)
c.793G>T (p.Asp265Tyr)
n.284G>T
Xg.78123316A>CCA413716809PGK1c.878A>C (p.Asp293Ala)
c.794A>C (p.Asp265Ala)
n.285A>C
Xg.78123316A>GCA413716811PGK1c.878A>G (p.Asp293Gly)
c.794A>G (p.Asp265Gly)
n.285A>G
Xg.78123316A>TCA413716812PGK1c.878A>T (p.Asp293Val)
c.794A>T (p.Asp265Val)
n.285A>T
Xg.78123317T>ACA413716815PGK1c.879T>A (p.Asp293Glu)
c.795T>A (p.Asp265Glu)
n.286T>A
Xg.78123317T>CCA517380827PGK1c.879T>C (p.Asp293=)
c.795T>C (p.Asp265=)
n.286T>C
Xg.78123317T>GCA413716817PGK1c.879T>G (p.Asp293Glu)
c.795T>G (p.Asp265Glu)
n.286T>G
Xg.78123318G>ACA413716820PGK1c.880G>A (p.Glu294Lys)
c.796G>A (p.Glu266Lys)
n.287G>A
 dbSNP gnomAD v4
Xg.78123318G>CCA413716821PGK1c.880G>C (p.Glu294Gln)
c.796G>C (p.Glu266Gln)
n.287G>C
Xg.78123318G=CA2439140523PGK1c.880G= (p.Glu294=)
c.796G= (p.Glu266=)
n.287G=
Xg.78123318G>TCA413716823PGK1c.880G>T (p.Glu294Ter)
c.796G>T (p.Glu266Ter)
n.287G>T
Xg.78123319A>CCA413716826PGK1c.881A>C (p.Glu294Ala)
c.797A>C (p.Glu266Ala)
n.288A>C
Xg.78123319A>GCA413716828PGK1c.881A>G (p.Glu294Gly)
c.797A>G (p.Glu266Gly)
n.288A>G
Xg.78123319A>TCA413716830PGK1c.881A>T (p.Glu294Val)
c.797A>T (p.Glu266Val)
n.288A>T
Xg.78123320G>ACA517380828PGK1c.882G>A (p.Glu294=)
c.798G>A (p.Glu266=)
n.289G>A
Xg.78123320G>CCA413716834PGK1c.882G>C (p.Glu294Asp)
c.798G>C (p.Glu266Asp)
n.289G>C
Xg.78123320G>TCA413716832PGK1c.882G>T (p.Glu294Asp)
c.798G>T (p.Glu266Asp)
n.289G>T
Xg.78123321A>CCA413716836PGK1c.883A>C (p.Asn295His)
c.799A>C (p.Asn267His)
n.290A>C
Xg.78123321A>GCA413716838PGK1c.883A>G (p.Asn295Asp)
c.799A>G (p.Asn267Asp)
n.290A>G
Xg.78123321A>TCA413716839PGK1c.883A>T (p.Asn295Tyr)
c.799A>T (p.Asn267Tyr)
n.290A>T
Xg.78123322A=CA2439140524PGK1c.884A= (p.Asn295=)
c.800A= (p.Asn267=)
n.291A=
Xg.78123322A>CCA413716841PGK1c.884A>C (p.Asn295Thr)
c.800A>C (p.Asn267Thr)
n.291A>C
Xg.78123322A>GCA10459781PGK1c.884A>G (p.Asn295Ser)
c.800A>G (p.Asn267Ser)
n.291A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78123322A>TCA413716844PGK1c.884A>T (p.Asn295Ile)
c.800A>T (p.Asn267Ile)
n.291A>T
 dbSNP
Xg.78123323T>ACA413716847PGK1c.885T>A (p.Asn295Lys)
c.801T>A (p.Asn267Lys)
n.292T>A
Xg.78123323T>CCA517380829PGK1c.885T>C (p.Asn295=)
c.801T>C (p.Asn267=)
n.292T>C
Xg.78123323T>GCA413716848PGK1c.885T>G (p.Asn295Lys)
c.801T>G (p.Asn267Lys)
n.292T>G
Xg.78123324G>ACA331586159PGK1c.886G>A (p.Ala296Thr)
c.802G>A (p.Ala268Thr)
n.293G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.78123324G>CCA413716851PGK1c.886G>C (p.Ala296Pro)
c.802G>C (p.Ala268Pro)
n.293G>C
Xg.78123324G=CA2439140525PGK1c.886G= (p.Ala296=)
c.802G= (p.Ala268=)
n.293G=
Xg.78123324G>TCA413716854PGK1c.886G>T (p.Ala296Ser)
c.802G>T (p.Ala268Ser)
n.293G>T
Xg.78123325C>ACA413716856PGK1c.887C>A (p.Ala296Asp)
c.803C>A (p.Ala268Asp)
n.294C>A
Xg.78123325C=CA2439140526PGK1c.887C= (p.Ala296=)
c.803C= (p.Ala268=)
n.294C=
Xg.78123325C>GCA413716858PGK1c.887C>G (p.Ala296Gly)
c.803C>G (p.Ala268Gly)
n.294C>G
 dbSNP gnomAD v2 gnomAD v4
Xg.78123325C>TCA331586160PGK1c.887C>T (p.Ala296Val)
c.803C>T (p.Ala268Val)
n.294C>T
 ClinVar dbSNP gnomAD v4
Xg.78123326C>ACA517380831PGK1c.888C>A (p.Ala296=)
c.804C>A (p.Ala268=)
n.295C>A
 gnomAD v4
Xg.78123326C=CA2439140527PGK1c.888C= (p.Ala296=)
c.804C= (p.Ala268=)
n.295C=
Xg.78123326C>GCA10459782PGK1c.888C>G (p.Ala296=)
c.804C>G (p.Ala268=)
n.295C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78123326C>TCA517380830PGK1c.888C>T (p.Ala296=)
c.804C>T (p.Ala268=)
n.295C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.78123327A>CCA413716866PGK1c.889A>C (p.Lys297Gln)
c.805A>C (p.Lys269Gln)
n.296A>C
Xg.78123327A>GCA413716863PGK1c.889A>G (p.Lys297Glu)
c.805A>G (p.Lys269Glu)
n.296A>G
Xg.78123327A>TCA413716868PGK1c.889A>T (p.Lys297Ter)
c.805A>T (p.Lys269Ter)
n.296A>T
Xg.78123328A=CA2439140528PGK1c.890A= (p.Lys297=)
c.806A= (p.Lys269=)
n.297A=
Xg.78123328A>CCA413716870PGK1c.890A>C (p.Lys297Thr)
c.806A>C (p.Lys269Thr)
n.297A>C
Xg.78123328A>GCA10459783PGK1c.890A>G (p.Lys297Arg)
c.806A>G (p.Lys269Arg)
n.297A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78123328A>TCA413716873PGK1c.890A>T (p.Lys297Met)
c.806A>T (p.Lys269Met)
n.297A>T
Xg.78123328_78123329insTCTACACAGGGCA2571146346PGK1c.890_891insTCTACACAGGG (p.Lys297AsnfsTer?)
c.806_807insTCTACACAGGG (p.Lys269AsnfsTer?)
n.297_298insTCTACACAGGG
Xg.78123329G>ACA517380832PGK1c.891G>A (p.Lys297=)
c.807G>A (p.Lys269=)
n.298G>A
Xg.78123329G>CCA413716876PGK1c.891G>C (p.Lys297Asn)
c.807G>C (p.Lys269Asn)
n.298G>C
Xg.78123329G>TCA413716878PGK1c.891G>T (p.Lys297Asn)
c.807G>T (p.Lys269Asn)
n.298G>T
Xg.78123330A=CA2439140529PGK1c.892A= (p.Thr298=)
c.808A= (p.Thr270=)
n.299A=
Xg.78123330A>CCA413716880PGK1c.892A>C (p.Thr298Pro)
c.808A>C (p.Thr270Pro)
n.299A>C
Xg.78123330A>GCA10459784PGK1c.892A>G (p.Thr298Ala)
c.808A>G (p.Thr270Ala)
n.299A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78123330A>TCA413716882PGK1c.892A>T (p.Thr298Ser)
c.808A>T (p.Thr270Ser)
n.299A>T
Xg.78123331C>ACA413716886PGK1c.893C>A (p.Thr298Asn)
c.809C>A (p.Thr270Asn)
n.300C>A
Xg.78123331C>GCA413716890PGK1c.893C>G (p.Thr298Ser)
c.809C>G (p.Thr270Ser)
n.300C>G
Xg.78123331C>TCA413716888PGK1c.893C>T (p.Thr298Ile)
c.809C>T (p.Thr270Ile)
n.300C>T
 gnomAD v4
Xg.78123332T>ACA517380834PGK1c.894T>A (p.Thr298=)
c.810T>A (p.Thr270=)
n.301T>A
Xg.78123332T>CCA517380833PGK1c.894T>C (p.Thr298=)
c.810T>C (p.Thr270=)
n.301T>C
Xg.78123332T>GCA10459785PGK1c.894T>G (p.Thr298=)
c.810T>G (p.Thr270=)
n.301T>G
 dbSNP ExAC
Xg.78123332T=CA2439140530PGK1c.894T= (p.Thr298=)
c.810T= (p.Thr270=)
n.301T=
Xg.78123333G>ACA413716894PGK1c.895G>A (p.Gly299Ser)
c.811G>A (p.Gly271Ser)
n.302G>A
 gnomAD v4
Xg.78123333G>CCA413716895PGK1c.895G>C (p.Gly299Arg)
c.811G>C (p.Gly271Arg)
n.302G>C
Xg.78123333G>TCA413716897PGK1c.895G>T (p.Gly299Cys)
c.811G>T (p.Gly271Cys)
n.302G>T
Xg.78123334G>ACA413716899PGK1c.896G>A (p.Gly299Asp)
c.812G>A (p.Gly271Asp)
n.303G>A
 dbSNP gnomAD v2
Xg.78123334G>CCA413716900PGK1c.896G>C (p.Gly299Ala)
c.812G>C (p.Gly271Ala)
n.303G>C
Xg.78123334G=CA2439140531PGK1c.896G= (p.Gly299=)
c.812G= (p.Gly271=)
n.303G=
Xg.78123334G>TCA413716902PGK1c.896G>T (p.Gly299Val)
c.812G>T (p.Gly271Val)
n.303G>T
Xg.78123335C>ACA517380835PGK1c.897C>A (p.Gly299=)
c.813C>A (p.Gly271=)
n.304C>A
Xg.78123335C>GCA517380836PGK1c.897C>G (p.Gly299=)
c.813C>G (p.Gly271=)
n.304C>G
Xg.78123335C>TCA517380837PGK1c.897C>T (p.Gly299=)
c.813C>T (p.Gly271=)
n.304C>T
 COSMIC
Xg.78123336C>ACA10459786PGK1c.898C>A (p.Gln300Lys)
c.814C>A (p.Gln272Lys)
n.305C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78123336C=CA2439140532PGK1c.898C= (p.Gln300=)
c.814C= (p.Gln272=)
n.305C=
Xg.78123336C>GCA10459787PGK1c.898C>G (p.Gln300Glu)
c.814C>G (p.Gln272Glu)
n.305C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78123336C>TCA413716907PGK1c.898C>T (p.Gln300Ter)
c.814C>T (p.Gln272Ter)
n.305C>T
Xg.78123337A>CCA413716913PGK1c.899A>C (p.Gln300Pro)
c.815A>C (p.Gln272Pro)
n.306A>C
Xg.78123337A>GCA413716911PGK1c.899A>G (p.Gln300Arg)
c.815A>G (p.Gln272Arg)
n.306A>G
Xg.78123337A>TCA413716909PGK1c.899A>T (p.Gln300Leu)
c.815A>T (p.Gln272Leu)
n.306A>T
Xg.78123338dupCA2439140533PGK1c.900dup (p.Ala301SerfsTer19)
c.816dup (p.Ala273SerfsTer19)
 dbSNP
Xg.78123338A=CA2439140534PGK1c.900A= (p.Gln300=)
c.816A= (p.Gln272=)
n.307A=
Xg.78123338A>CCA413716915PGK1c.900A>C (p.Gln300His)
c.816A>C (p.Gln272His)
n.307A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.78123338A>GCA517380838PGK1c.900A>G (p.Gln300=)
c.816A>G (p.Gln272=)
n.307A>G
Xg.78123338A>TCA413716917PGK1c.900A>T (p.Gln300His)
c.816A>T (p.Gln272His)
n.307A>T
Xg.78123339G>ACA413716918PGK1c.901G>A (p.Ala301Thr)
c.817G>A (p.Ala273Thr)
 gnomAD v4
Xg.78123339G>CCA413716920PGK1c.901G>C (p.Ala301Pro)
c.817G>C (p.Ala273Pro)
Xg.78123339G>TCA413716922PGK1c.901G>T (p.Ala301Ser)
c.817G>T (p.Ala273Ser)
 COSMIC
Xg.78123340C>ACA413716924PGK1c.902C>A (p.Ala301Asp)
c.818C>A (p.Ala273Asp)
 dbSNP
Xg.78123340C=CA2439140535PGK1c.902C= (p.Ala301=)
c.818C= (p.Ala273=)
Xg.78123340C>GCA413716926PGK1c.902C>G (p.Ala301Gly)
c.818C>G (p.Ala273Gly)
Xg.78123340C>TCA413716928PGK1c.902C>T (p.Ala301Val)
c.818C>T (p.Ala273Val)
Xg.78123341C>ACA517380839PGK1c.903C>A (p.Ala301=)
c.819C>A (p.Ala273=)
Xg.78123341C>GCA517380840PGK1c.903C>G (p.Ala301=)
c.819C>G (p.Ala273=)
Xg.78123341C>TCA517380841PGK1c.903C>T (p.Ala301=)
c.819C>T (p.Ala273=)
Xg.78123342A>CCA413716930PGK1c.904A>C (p.Thr302Pro)
c.820A>C (p.Thr274Pro)
Xg.78123342A>GCA413716932PGK1c.904A>G (p.Thr302Ala)
c.820A>G (p.Thr274Ala)
Xg.78123342A>TCA413716933PGK1c.904A>T (p.Thr302Ser)
c.820A>T (p.Thr274Ser)
Xg.78123343C>ACA413716941PGK1c.905C>A (p.Thr302Asn)
c.821C>A (p.Thr274Asn)
Xg.78123343C=CA2439140537PGK1c.905C= (p.Thr302=)
c.821C= (p.Thr274=)
Xg.78123343C>GCA413716943PGK1c.905C>G (p.Thr302Ser)
c.821C>G (p.Thr274Ser)
Xg.78123343C>TCA413716940PGK1c.905C>T (p.Thr302Ile)
c.821C>T (p.Thr274Ile)
 dbSNP
Xg.78123343_78123386delinsCTGTGGCTTCTGGCATACCTGCTGGCTGGATGGTGAGTCACTTGCA2439140536PGK1c.905_936+12delinsCTGTGGCTTCTGGCATACCTGCTGGCTGGATGGTGAGTCACTTG
c.821_852+12delinsCTGTGGCTTCTGGCATACCTGCTGGCTGGATGGTGAGTCACTTG
Xg.78123344T>ACA517380842PGK1c.906T>A (p.Thr302=)
c.822T>A (p.Thr274=)
Xg.78123344T>CCA517380843PGK1c.906T>C (p.Thr302=)
c.822T>C (p.Thr274=)
Xg.78123344T>GCA517380844PGK1c.906T>G (p.Thr302=)
c.822T>G (p.Thr274=)
Xg.78123344_78123386delCA891863078PGK1c.906_936+12del
c.822_852+12del
 ClinVar dbSNP
Xg.78123345G>ACA413716946PGK1c.907G>A (p.Val303Met)
c.823G>A (p.Val275Met)
Xg.78123345G>CCA413716947PGK1c.907G>C (p.Val303Leu)
c.823G>C (p.Val275Leu)
Xg.78123345G>TCA413716949PGK1c.907G>T (p.Val303Leu)
c.823G>T (p.Val275Leu)
Xg.78123346T>ACA413716952PGK1c.908T>A (p.Val303Glu)
c.824T>A (p.Val275Glu)
Xg.78123346T>CCA413716953PGK1c.908T>C (p.Val303Ala)
c.824T>C (p.Val275Ala)
 gnomAD v4
Xg.78123346T>GCA413716955PGK1c.908T>G (p.Val303Gly)
c.824T>G (p.Val275Gly)
Xg.78123347G>ACA517380845PGK1c.909G>A (p.Val303=)
c.825G>A (p.Val275=)
Xg.78123347G>CCA10459788PGK1c.909G>C (p.Val303=)
c.825G>C (p.Val275=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78123347G=CA2439140538PGK1c.909G= (p.Val303=)
c.825G= (p.Val275=)
Xg.78123347G>TCA517380846PGK1c.909G>T (p.Val303=)
c.825G>T (p.Val275=)
 dbSNP gnomAD v4
Xg.78123347_78123348delinsTTCA2573159565PGK1c.909_910delinsTT (p.Ala304Ser)
c.825_826delinsTT (p.Ala276Ser)
 ClinVar dbSNP
Xg.78123348G>ACA413716958PGK1c.910G>A (p.Ala304Thr)
c.826G>A (p.Ala276Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.78123348G>CCA413716960PGK1c.910G>C (p.Ala304Pro)
c.826G>C (p.Ala276Pro)
Xg.78123348G=CA2439140539PGK1c.910G= (p.Ala304=)
c.826G= (p.Ala276=)
Xg.78123348G>TCA413716962PGK1c.910G>T (p.Ala304Ser)
c.826G>T (p.Ala276Ser)
 dbSNP gnomAD v4
Xg.78123349C>ACA413716963PGK1c.911C>A (p.Ala304Asp)
c.827C>A (p.Ala276Asp)
Xg.78123349C>GCA413716964PGK1c.911C>G (p.Ala304Gly)
c.827C>G (p.Ala276Gly)
Xg.78123349C>TCA413716966PGK1c.911C>T (p.Ala304Val)
c.827C>T (p.Ala276Val)
Xg.78123350T>ACA517380847PGK1c.912T>A (p.Ala304=)
c.828T>A (p.Ala276=)
Xg.78123350T>CCA517380848PGK1c.912T>C (p.Ala304=)
c.828T>C (p.Ala276=)
Xg.78123350T>GCA517380849PGK1c.912T>G (p.Ala304=)
c.828T>G (p.Ala276=)
Xg.78123351T>ACA413716973PGK1c.913T>A (p.Ser305Thr)
c.829T>A (p.Ser277Thr)
Xg.78123351T>CCA413716971PGK1c.913T>C (p.Ser305Pro)
c.829T>C (p.Ser277Pro)
Xg.78123351T>GCA413716969PGK1c.913T>G (p.Ser305Ala)
c.829T>G (p.Ser277Ala)
Xg.78123352C>ACA413716975PGK1c.914C>A (p.Ser305Tyr)
c.830C>A (p.Ser277Tyr)
Xg.78123352C=CA2439140540PGK1c.914C= (p.Ser305=)
c.830C= (p.Ser277=)
Xg.78123352C>GCA10459789PGK1c.914C>G (p.Ser305Cys)
c.830C>G (p.Ser277Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78123352C>TCA413716978PGK1c.914C>T (p.Ser305Phe)
c.830C>T (p.Ser277Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.78123353T>ACA517380850PGK1c.915T>A (p.Ser305=)
c.831T>A (p.Ser277=)
Xg.78123353T>CCA517380851PGK1c.915T>C (p.Ser305=)
c.831T>C (p.Ser277=)
Xg.78123353T>GCA517380852PGK1c.915T>G (p.Ser305=)
c.831T>G (p.Ser277=)
Xg.78123354G>ACA413716981PGK1c.916G>A (p.Gly306Ser)
c.832G>A (p.Gly278Ser)
Xg.78123354G>CCA413716982PGK1c.916G>C (p.Gly306Arg)
c.832G>C (p.Gly278Arg)
 dbSNP
Xg.78123354G>TCA413716984PGK1c.916G>T (p.Gly306Cys)
c.832G>T (p.Gly278Cys)
Xg.78123355G>ACA413716987PGK1c.917G>A (p.Gly306Asp)
c.833G>A (p.Gly278Asp)
 gnomAD v4
Xg.78123355G>CCA413716988PGK1c.917G>C (p.Gly306Ala)
c.833G>C (p.Gly278Ala)
Xg.78123355G=CA2439140541PGK1c.917G= (p.Gly306=)
c.833G= (p.Gly278=)
Xg.78123355G>TCA16609421PGK1c.917G>T (p.Gly306Val)
c.833G>T (p.Gly278Val)
 ClinVar dbSNP
Xg.78123356C>ACA517380853PGK1c.918C>A (p.Gly306=)
c.834C>A (p.Gly278=)
 dbSNP
Xg.78123356C=CA2439140542PGK1c.918C= (p.Gly306=)
c.834C= (p.Gly278=)
Xg.78123356C>GCA517380854PGK1c.918C>G (p.Gly306=)
c.834C>G (p.Gly278=)
Xg.78123356C>TCA517380855PGK1c.918C>T (p.Gly306=)
c.834C>T (p.Gly278=)
 dbSNP gnomAD v2 gnomAD v4
Xg.78123357A=CA2439140543PGK1c.919A= (p.Ile307=)
c.835A= (p.Ile279=)
Xg.78123357A>CCA413716991PGK1c.919A>C (p.Ile307Leu)
c.835A>C (p.Ile279Leu)
Xg.78123357A>GCA413716993PGK1c.919A>G (p.Ile307Val)
c.835A>G (p.Ile279Val)
 dbSNP
Xg.78123357A>TCA413716995PGK1c.919A>T (p.Ile307Leu)
c.835A>T (p.Ile279Leu)
Xg.78123358T>ACA413717000PGK1c.920T>A (p.Ile307Lys)
c.836T>A (p.Ile279Lys)
Xg.78123358T>CCA413716998PGK1c.920T>C (p.Ile307Thr)
c.836T>C (p.Ile279Thr)
Xg.78123358T>GCA413716997PGK1c.920T>G (p.Ile307Arg)
c.836T>G (p.Ile279Arg)
Xg.78123359A>CCA517380856PGK1c.921A>C (p.Ile307=)
c.837A>C (p.Ile279=)
Xg.78123359A>GCA413717001PGK1c.921A>G (p.Ile307Met)
c.837A>G (p.Ile279Met)
Xg.78123359A>TCA517380857PGK1c.921A>T (p.Ile307=)
c.837A>T (p.Ile279=)
 COSMIC
Xg.78123360C>ACA413717008PGK1c.922C>A (p.Pro308Thr)
c.838C>A (p.Pro280Thr)
Xg.78123360C>GCA413717004PGK1c.922C>G (p.Pro308Ala)
c.838C>G (p.Pro280Ala)
Xg.78123360C>TCA413717006PGK1c.922C>T (p.Pro308Ser)
c.838C>T (p.Pro280Ser)
 gnomAD v4
Xg.78123361C>ACA413717010PGK1c.923C>A (p.Pro308His)
c.839C>A (p.Pro280His)
Xg.78123361C>GCA413717011PGK1c.923C>G (p.Pro308Arg)
c.839C>G (p.Pro280Arg)
Xg.78123361C>TCA413717014PGK1c.923C>T (p.Pro308Leu)
c.839C>T (p.Pro280Leu)
Xg.78123362T>ACA517380858PGK1c.924T>A (p.Pro308=)
c.840T>A (p.Pro280=)
Xg.78123362T>CCA517380859PGK1c.924T>C (p.Pro308=)
c.840T>C (p.Pro280=)
 gnomAD v4
Xg.78123362T>GCA517380860PGK1c.924T>G (p.Pro308=)
c.840T>G (p.Pro280=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.78123362T=CA2439140544PGK1c.924T= (p.Pro308=)
c.840T= (p.Pro280=)
Xg.78123363G>ACA413717016PGK1c.925G>A (p.Ala309Thr)
c.841G>A (p.Ala281Thr)
 gnomAD v4
Xg.78123363G>CCA413717018PGK1c.925G>C (p.Ala309Pro)
c.841G>C (p.Ala281Pro)
Xg.78123363G>TCA413717020PGK1c.925G>T (p.Ala309Ser)
c.841G>T (p.Ala281Ser)
Xg.78123364C>ACA413717023PGK1c.926C>A (p.Ala309Asp)
c.842C>A (p.Ala281Asp)
Xg.78123364C>GCA413717025PGK1c.926C>G (p.Ala309Gly)
c.842C>G (p.Ala281Gly)
Xg.78123364C>TCA413717026PGK1c.926C>T (p.Ala309Val)
c.842C>T (p.Ala281Val)
Xg.78123365T>ACA517380861PGK1c.927T>A (p.Ala309=)
c.843T>A (p.Ala281=)
Xg.78123365T>CCA517380862PGK1c.927T>C (p.Ala309=)
c.843T>C (p.Ala281=)
Xg.78123365T>GCA517380863PGK1c.927T>G (p.Ala309=)
c.843T>G (p.Ala281=)
Xg.78123366G>ACA413717033PGK1c.928G>A (p.Gly310Ser)
c.844G>A (p.Gly282Ser)
Xg.78123366G>CCA413717031PGK1c.928G>C (p.Gly310Arg)
c.844G>C (p.Gly282Arg)
 gnomAD v4
Xg.78123366G>TCA413717029PGK1c.928G>T (p.Gly310Cys)
c.844G>T (p.Gly282Cys)
Xg.78123367G>ACA331586161PGK1c.929G>A (p.Gly310Asp)
c.845G>A (p.Gly282Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.78123367G>CCA413717036PGK1c.929G>C (p.Gly310Ala)
c.845G>C (p.Gly282Ala)
Xg.78123367G=CA2439140545PGK1c.929G= (p.Gly310=)
c.845G= (p.Gly282=)
Xg.78123367G>TCA413717039PGK1c.929G>T (p.Gly310Val)
c.845G>T (p.Gly282Val)
Xg.78123368C>ACA517380864PGK1c.930C>A (p.Gly310=)
c.846C>A (p.Gly282=)
Xg.78123368C=CA2439140546PGK1c.930C= (p.Gly310=)
c.846C= (p.Gly282=)
Xg.78123368C>GCA517380865PGK1c.930C>G (p.Gly310=)
c.846C>G (p.Gly282=)
 gnomAD v4
Xg.78123368C>TCA517380866PGK1c.930C>T (p.Gly310=)
c.846C>T (p.Gly282=)
 dbSNP gnomAD v4
Xg.78123369T>ACA413717041PGK1c.931T>A (p.Trp311Arg)
c.847T>A (p.Trp283Arg)
Xg.78123369T>CCA413717042PGK1c.931T>C (p.Trp311Arg)
c.847T>C (p.Trp283Arg)
 gnomAD v4
Xg.78123369T>GCA413717044PGK1c.931T>G (p.Trp311Gly)
c.847T>G (p.Trp283Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.78123369T=CA2439140547PGK1c.931T= (p.Trp311=)
c.847T= (p.Trp283=)
Xg.78123370G>ACA413717046PGK1c.932G>A (p.Trp311Ter)
c.848G>A (p.Trp283Ter)
Xg.78123370G>CCA413717048PGK1c.932G>C (p.Trp311Ser)
c.848G>C (p.Trp283Ser)
Xg.78123370G>TCA413717050PGK1c.932G>T (p.Trp311Leu)
c.848G>T (p.Trp283Leu)
Xg.78123371G>ACA413717053PGK1c.933G>A (p.Trp311Ter)
c.849G>A (p.Trp283Ter)
Xg.78123371G>CCA413717055PGK1c.933G>C (p.Trp311Cys)
c.849G>C (p.Trp283Cys)
Xg.78123371G>TCA413717057PGK1c.933G>T (p.Trp311Cys)
c.849G>T (p.Trp283Cys)
 ClinVar
Xg.78123372A=CA2439140548PGK1c.934A= (p.Met312=)
c.850A= (p.Met284=)
Xg.78123372A>CCA413717060PGK1c.934A>C (p.Met312Leu)
c.850A>C (p.Met284Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.78123372A>GCA413717062PGK1c.934A>G (p.Met312Val)
c.850A>G (p.Met284Val)
Xg.78123372A>TCA413717058PGK1c.934A>T (p.Met312Leu)
c.850A>T (p.Met284Leu)
Xg.78123373T>ACA413717064PGK1c.935T>A (p.Met312Lys)
c.851T>A (p.Met284Lys)
Xg.78123373T>CCA413717066PGK1c.935T>C (p.Met312Thr)
c.851T>C (p.Met284Thr)
Xg.78123373T>GCA413717068PGK1c.935T>G (p.Met312Arg)
c.851T>G (p.Met284Arg)
Xg.78123374G>ACA413717070PGK1c.936G>A (p.Met312Ile)
c.852G>A (p.Met284Ile)
Xg.78123374G>CCA413717073PGK1c.936G>C (p.Met312Ile)
c.852G>C (p.Met284Ile)
Xg.78123374G>TCA413717076PGK1c.936G>T (p.Met312Ile)
c.852G>T (p.Met284Ile)
Xg.78123375G>ACA413717079PGK1c.936+1G>A (n.936+1G>A)
c.852+1G>A (n.852+1G>A)
Xg.78123375G>CCA413717081PGK1c.936+1G>C (n.936+1G>C)
c.852+1G>C (n.852+1G>C)
Xg.78123375G>TCA413717085PGK1c.936+1G>T (n.936+1G>T)
c.852+1G>T (n.852+1G>T)
Xg.78123376T>ACA413717088PGK1c.936+2T>A (n.936+2T>A)
c.852+2T>A (n.852+2T>A)
Xg.78123376T>CCA413717089PGK1c.936+2T>C (n.936+2T>C)
c.852+2T>C (n.852+2T>C)
Xg.78123376T>GCA413717090PGK1c.936+2T>G (n.936+2T>G)
c.852+2T>G (n.852+2T>G)
Xg.78123379G>ACA658824583PGK1c.936+5G>A (n.936+5G>A)
c.852+5G>A (n.852+5G>A)
 ClinVar dbSNP
Xg.78123379G=CA2439140549PGK1c.936+5G= (n.936+5G=)
c.852+5G= (n.852+5G=)
Xg.78123380T>CCA2694156171PGK1c.936+6T>C (n.936+6T>C)
c.852+6T>C (n.852+6T>C)
 gnomAD v4
Xg.78123381C>ACA2694156172PGK1c.936+7C>A (n.936+7C>A)
c.852+7C>A (n.852+7C>A)
 gnomAD v4
Xg.78123381C>TCA2579650846PGK1c.936+7C>T (n.936+7C>T)
c.852+7C>T (n.852+7C>T)
 gnomAD v4
Xg.78123382A>GCA2694156173PGK1c.936+8A>G (n.936+8A>G)
c.852+8A>G (n.852+8A>G)
 gnomAD v4
Xg.78123383C=CA2439140550PGK1c.936+9C= (n.936+9C=)
c.852+9C= (n.852+9C=)
Xg.78123383C>GCA643006597PGK1c.936+9C>G (n.936+9C>G)
c.852+9C>G (n.852+9C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.78123384T>ACA2579650847PGK1c.936+10T>A (n.936+10T>A)
c.852+10T>A (n.852+10T>A)
Xg.78123386G>CCA10459790PGK1c.936+12G>C (n.936+12G>C)
c.852+12G>C (n.852+12G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78123386G=CA2439140551PGK1c.936+12G= (n.936+12G=)
c.852+12G= (n.852+12G=)
Xg.78123386G>TCA2821960606PGK1c.936+12G>T (n.936+12G>T)
c.852+12G>T (n.852+12G>T)
Xg.78123387A>GCA2579650848PGK1c.936+13A>G (n.936+13A>G)
c.852+13A>G (n.852+13A>G)
 gnomAD v4
Xg.78123388G>CCA2439140553PGK1c.936+14G>C (n.936+14G>C)
c.852+14G>C (n.852+14G>C)
 dbSNP gnomAD v4
Xg.78123388G=CA2439140552PGK1c.936+14G= (n.936+14G=)
c.852+14G= (n.852+14G=)
Xg.78123389_78123390delinsTGCA2439140554PGK1c.936+15_936+16delinsTG (n.936+15_936+16delinsTG)
c.852+15_852+16delinsTG (n.852+15_852+16delinsTG)
Xg.78123390G>ACA2694156174PGK1c.936+16G>A (n.936+16G>A)
c.852+16G>A (n.852+16G>A)
 gnomAD v4
Xg.78123390G>TCA2694156175PGK1c.936+16G>T (n.936+16G>T)
c.852+16G>T (n.852+16G>T)
 gnomAD v4
Xg.78123392delCA2439140555PGK1c.936+18del (n.936+18del)
c.852+18del (n.852+18del)
 dbSNP
Xg.78123391G>ACA657970146PGK1c.936+17G>A (n.936+17G>A)
c.852+17G>A (n.852+17G>A)
 COSMIC
Xg.78123392G>ACA2439140557PGK1c.936+18G>A (n.936+18G>A)
c.852+18G>A (n.852+18G>A)
 ClinVar dbSNP gnomAD v4
Xg.78123392G>CCA2694156176PGK1c.936+18G>C (n.936+18G>C)
c.852+18G>C (n.852+18G>C)
 ClinVar gnomAD v4
Xg.78123392G=CA2439140556PGK1c.936+18G= (n.936+18G=)
c.852+18G= (n.852+18G=)
Xg.78123393T>ACA1134522899PGK1c.936+19T>A (n.936+19T>A)
c.852+19T>A (n.852+19T>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.78123393T=CA2439140558PGK1c.936+19T= (n.936+19T=)
c.852+19T= (n.852+19T=)
Xg.78123394T>CCA2694156177PGK1c.936+20T>C (n.936+20T>C)
c.852+20T>C (n.852+20T>C)
 gnomAD v4
Xg.78123395G>CCA10459791PGK1c.936+21G>C (n.936+21G>C)
c.852+21G>C (n.852+21G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.78123395G=CA2439140559PGK1c.936+21G= (n.936+21G=)
c.852+21G= (n.852+21G=)
Xg.78123395G>TCA2694156178PGK1c.936+21G>T (n.936+21G>T)
c.852+21G>T (n.852+21G>T)
 gnomAD v4
Xg.78123397T>ACA2694156180PGK1c.936+23T>A (n.936+23T>A)
c.852+23T>A (n.852+23T>A)
 gnomAD v4
Xg.78123397T>CCA2694156179PGK1c.936+23T>C (n.936+23T>C)
c.852+23T>C (n.852+23T>C)
 gnomAD v4
Xg.78123398A>GCA2694156181PGK1c.936+24A>G (n.936+24A>G)
c.852+24A>G (n.852+24A>G)
 gnomAD v4
Xg.78123399G>ACA2694156182PGK1c.936+25G>A (n.936+25G>A)
c.852+25G>A (n.852+25G>A)
 gnomAD v4
Xg.78123399G>CCA643006598PGK1c.936+25G>C (n.936+25G>C)
c.852+25G>C (n.852+25G>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.78123399G=CA2439140560PGK1c.936+25G= (n.936+25G=)
c.852+25G= (n.852+25G=)
Xg.78123402_78123403delCA2579650849PGK1c.936+28_936+29del (n.936+28_936+29del)
c.852+28_852+29del (n.852+28_852+29del)
 gnomAD v4
Xg.78123400T>ACA2694156183PGK1c.936+26T>A (n.936+26T>A)
c.852+26T>A (n.852+26T>A)
 gnomAD v4
Xg.78123400T>CCA2694156184PGK1c.936+26T>C (n.936+26T>C)
c.852+26T>C (n.852+26T>C)
 gnomAD v4
Xg.78123401G>ACA2694156185PGK1c.936+27G>A (n.936+27G>A)
c.852+27G>A (n.852+27G>A)
 gnomAD v4
Xg.78123402T>CCA2694156186PGK1c.936+28T>C (n.936+28T>C)
c.852+28T>C (n.852+28T>C)
 gnomAD v4
Xg.78123403G>ACA1134522906PGK1c.936+29G>A (n.936+29G>A)
c.852+29G>A (n.852+29G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.78123403G=CA2439140561PGK1c.936+29G= (n.936+29G=)
c.852+29G= (n.852+29G=)
Xg.78123403G>TCA2694156187PGK1c.936+29G>T (n.936+29G>T)
c.852+29G>T (n.852+29G>T)
 gnomAD v4
Xg.78123404A>GCA2694156188PGK1c.936+30A>G (n.936+30A>G)
c.852+30A>G (n.852+30A>G)
 gnomAD v4
Xg.78123405G>ACA2694156189PGK1c.936+31G>A (n.936+31G>A)
c.852+31G>A (n.852+31G>A)
 gnomAD v4
Xg.78123406_78123407delCA2579650850PGK1c.936+32_936+33del (n.936+32_936+33del)
c.852+32_852+33del (n.852+32_852+33del)
Xg.78123406T>ACA2694156190PGK1c.936+32T>A (n.936+32T>A)
c.852+32T>A (n.852+32T>A)
 gnomAD v4
Xg.78123406T>CCA2694156191PGK1c.936+32T>C (n.936+32T>C)
c.852+32T>C (n.852+32T>C)
 gnomAD v4
Xg.78123407G>ACA2439140563PGK1c.936+33G>A (n.936+33G>A)
c.852+33G>A (n.852+33G>A)
 dbSNP gnomAD v4
Xg.78123407G=CA2439140562PGK1c.936+33G= (n.936+33G=)
c.852+33G= (n.852+33G=)
Xg.78123408A>GCA2694156192PGK1c.936+34A>G (n.936+34A>G)
c.852+34A>G (n.852+34A>G)
 gnomAD v4
Xg.78123409A>GCA2694156193PGK1c.936+35A>G (n.936+35A>G)
c.852+35A>G (n.852+35A>G)
 gnomAD v4
Xg.78123410C>ACA2694156194PGK1c.936+36C>A (n.936+36C>A)
c.852+36C>A (n.852+36C>A)
 gnomAD v4
Xg.78123410C=CA2439140564PGK1c.936+36C= (n.936+36C=)
c.852+36C= (n.852+36C=)
Xg.78123410C>GCA10459792PGK1c.936+36C>G (n.936+36C>G)
c.852+36C>G (n.852+36C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.78123410C>TCA2694156195PGK1c.936+36C>T (n.936+36C>T)
c.852+36C>T (n.852+36C>T)
 gnomAD v4
Xg.78123411A=CA2439140565PGK1c.936+37A= (n.936+37A=)
c.852+37A= (n.852+37A=)
Xg.78123411A>GCA2439140566PGK1c.936+37A>G (n.936+37A>G)
c.852+37A>G (n.852+37A>G)
 dbSNP gnomAD v4
Xg.78123412G>ACA2694156196PGK1c.936+38G>A (n.936+38G>A)
c.852+38G>A (n.852+38G>A)
 gnomAD v4
Xg.78123413A=CA2439140567PGK1c.936+39A= (n.936+39A=)
c.852+39A= (n.852+39A=)
Xg.78123413A>CCA2439140568PGK1c.936+39A>C (n.936+39A>C)
c.852+39A>C (n.852+39A>C)
 dbSNP gnomAD v4
Xg.78123413A>GCA2694156197PGK1c.936+39A>G (n.936+39A>G)
c.852+39A>G (n.852+39A>G)
 gnomAD v4
Xg.78123415A>GCA2694156198PGK1c.936+41A>G (n.936+41A>G)
c.852+41A>G (n.852+41A>G)
 gnomAD v4

Number of alleles fetched