Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.55680879G>ACA323570PNPT1c.493C>T (p.Pro165Ser)
c.*141C>T (n.*141C>T)
c.253C>T (p.Pro85Ser)
n.523C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55680879G>CCA346938893PNPT1c.493C>G (p.Pro165Ala)
c.*141C>G (n.*141C>G)
c.253C>G (p.Pro85Ala)
n.523C>G
2g.55680879G=CA1252405698PNPT1c.493C= (p.Pro165=)
c.*141C= (n.*141C=)
c.253C= (p.Pro85=)
n.523C=
2g.55680879G>TCA346938892PNPT1c.493C>A (p.Pro165Thr)
c.*141C>A (n.*141C>A)
c.253C>A (p.Pro85Thr)
n.523C>A
2g.55680880C>ACA346938894PNPT1c.492G>T (p.Glu164Asp)
c.*140G>T (n.*140G>T)
c.252G>T (p.Glu84Asp)
n.522G>T
2g.55680880C=CA1252405699PNPT1c.492G= (p.Glu164=)
c.*140G= (n.*140G=)
c.252G= (p.Glu84=)
n.522G=
2g.55680880C>GCA346938895PNPT1c.492G>C (p.Glu164Asp)
c.*140G>C (n.*140G>C)
c.252G>C (p.Glu84Asp)
n.522G>C
2g.55680880C>TCA1668448PNPT1c.492G>A (p.Glu164=)
c.*140G>A (n.*140G>A)
c.252G>A (p.Glu84=)
n.522G>A
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
2g.55680881T>ACA346938896PNPT1c.491A>T (p.Glu164Val)
c.*139A>T (n.*139A>T)
c.251A>T (p.Glu84Val)
n.521A>T
2g.55680881T>CCA346938897PNPT1c.491A>G (p.Glu164Gly)
c.*139A>G (n.*139A>G)
c.251A>G (p.Glu84Gly)
n.521A>G
 ClinVar dbSNP gnomAD v4
2g.55680881T>GCA346938898PNPT1c.491A>C (p.Glu164Ala)
c.*139A>C (n.*139A>C)
c.251A>C (p.Glu84Ala)
n.521A>C
2g.55680881T=CA1252405700PNPT1c.491A= (p.Glu164=)
c.*139A= (n.*139A=)
c.251A= (p.Glu84=)
n.521A=
2g.55680882C>ACA346938899PNPT1c.490G>T (p.Glu164Ter)
c.*138G>T (n.*138G>T)
c.250G>T (p.Glu84Ter)
n.520G>T
2g.55680882C>GCA346938900PNPT1c.490G>C (p.Glu164Gln)
c.*138G>C (n.*138G>C)
c.250G>C (p.Glu84Gln)
n.520G>C
2g.55680882C>TCA346938901PNPT1c.490G>A (p.Glu164Lys)
c.*138G>A (n.*138G>A)
c.250G>A (p.Glu84Lys)
n.520G>A
2g.55680883A>CCA346938902PNPT1c.489T>G (p.Asn163Lys)
c.*137T>G (n.*137T>G)
c.249T>G (p.Asn83Lys)
n.519T>G
2g.55680883A>GCA426175459PNPT1c.489T>C (p.Asn163=)
c.*137T>C (n.*137T>C)
c.249T>C (p.Asn83=)
n.519T>C
2g.55680883A>TCA346938903PNPT1c.489T>A (p.Asn163Lys)
c.*137T>A (n.*137T>A)
c.249T>A (p.Asn83Lys)
n.519T>A
2g.55680884T>ACA346938904PNPT1c.488A>T (p.Asn163Ile)
c.*136A>T (n.*136A>T)
c.248A>T (p.Asn83Ile)
n.518A>T
2g.55680884T>CCA1668449PNPT1c.488A>G (p.Asn163Ser)
c.*136A>G (n.*136A>G)
c.248A>G (p.Asn83Ser)
n.518A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.55680884T>GCA346938905PNPT1c.488A>C (p.Asn163Thr)
c.*136A>C (n.*136A>C)
c.248A>C (p.Asn83Thr)
n.518A>C
2g.55680884T=CA1252405701PNPT1c.488A= (p.Asn163=)
c.*136A= (n.*136A=)
c.248A= (p.Asn83=)
n.518A=
2g.55680885T>ACA346938906PNPT1c.487A>T (p.Asn163Tyr)
c.*135A>T (n.*135A>T)
c.247A>T (p.Asn83Tyr)
n.517A>T
 dbSNP gnomAD v3 gnomAD v4
2g.55680885T>CCA346938908PNPT1c.487A>G (p.Asn163Asp)
c.*135A>G (n.*135A>G)
c.247A>G (p.Asn83Asp)
n.517A>G
2g.55680885T>GCA346938907PNPT1c.487A>C (p.Asn163His)
c.*135A>C (n.*135A>C)
c.247A>C (p.Asn83His)
n.517A>C
2g.55680885T=CA1252405702PNPT1c.487A= (p.Asn163=)
c.*135A= (n.*135A=)
c.247A= (p.Asn83=)
n.517A=
2g.55680886T>ACA426175460PNPT1c.486A>T (p.Val162=)
c.*134A>T (n.*134A>T)
c.246A>T (p.Val82=)
n.516A>T
2g.55680886T>CCA426175462PNPT1c.486A>G (p.Val162=)
c.*134A>G (n.*134A>G)
c.246A>G (p.Val82=)
n.516A>G
2g.55680886T>GCA426175461PNPT1c.486A>C (p.Val162=)
c.*134A>C (n.*134A>C)
c.246A>C (p.Val82=)
n.516A>C
2g.55680887A>CCA346938909PNPT1c.485T>G (p.Val162Gly)
c.*133T>G (n.*133T>G)
c.245T>G (p.Val82Gly)
n.515T>G
2g.55680887A>GCA346938910PNPT1c.485T>C (p.Val162Ala)
c.*133T>C (n.*133T>C)
c.245T>C (p.Val82Ala)
n.515T>C
2g.55680887A>TCA346938911PNPT1c.485T>A (p.Val162Glu)
c.*133T>A (n.*133T>A)
c.245T>A (p.Val82Glu)
n.515T>A
2g.55680888C>ACA346938912PNPT1c.484G>T (p.Val162Leu)
c.*132G>T (n.*132G>T)
c.244G>T (p.Val82Leu)
n.514G>T
2g.55680888C=CA1252405703PNPT1c.484G= (p.Val162=)
c.*132G= (n.*132G=)
c.244G= (p.Val82=)
n.514G=
2g.55680888C>GCA346938913PNPT1c.484G>C (p.Val162Leu)
c.*132G>C (n.*132G>C)
c.244G>C (p.Val82Leu)
n.514G>C
2g.55680888C>TCA346938914PNPT1c.484G>A (p.Val162Ile)
c.*132G>A (n.*132G>A)
c.244G>A (p.Val82Ile)
n.514G>A
 dbSNP gnomAD v3 gnomAD v4
2g.55680889A>CCA426175463PNPT1c.483T>G (p.Gly161=)
c.*131T>G (n.*131T>G)
c.243T>G (p.Gly81=)
n.513T>G
2g.55680889A>GCA426175464PNPT1c.483T>C (p.Gly161=)
c.*131T>C (n.*131T>C)
c.243T>C (p.Gly81=)
n.513T>C
2g.55680889A>TCA426175465PNPT1c.483T>A (p.Gly161=)
c.*131T>A (n.*131T>A)
c.243T>A (p.Gly81=)
n.513T>A
2g.55680890C>ACA1668450PNPT1c.482G>T (p.Gly161Val)
c.*130G>T (n.*130G>T)
c.242G>T (p.Gly81Val)
n.512G>T
 dbSNP ExAC gnomAD v2
2g.55680890C=CA1252405704PNPT1c.482G= (p.Gly161=)
c.*130G= (n.*130G=)
c.242G= (p.Gly81=)
n.512G=
2g.55680890C>GCA346938915PNPT1c.482G>C (p.Gly161Ala)
c.*130G>C (n.*130G>C)
c.242G>C (p.Gly81Ala)
n.512G>C
2g.55680890C>TCA346938916PNPT1c.482G>A (p.Gly161Asp)
c.*130G>A (n.*130G>A)
c.242G>A (p.Gly81Asp)
n.512G>A
2g.55680891C>ACA346938918PNPT1c.481G>T (p.Gly161Cys)
c.*129G>T (n.*129G>T)
c.241G>T (p.Gly81Cys)
n.511G>T
 gnomAD v4
2g.55680891C>GCA346938919PNPT1c.481G>C (p.Gly161Arg)
c.*129G>C (n.*129G>C)
c.241G>C (p.Gly81Arg)
n.511G>C
2g.55680891C>TCA346938917PNPT1c.481G>A (p.Gly161Ser)
c.*129G>A (n.*129G>A)
c.241G>A (p.Gly81Ser)
n.511G>A
2g.55680892A>CCA346938920PNPT1c.480T>G (p.Asp160Glu)
c.*128T>G (n.*128T>G)
c.240T>G (p.Asp80Glu)
n.510T>G
2g.55680892A>GCA426175466PNPT1c.480T>C (p.Asp160=)
c.*128T>C (n.*128T>C)
c.240T>C (p.Asp80=)
n.510T>C
2g.55680892A>TCA346938921PNPT1c.480T>A (p.Asp160Glu)
c.*128T>A (n.*128T>A)
c.240T>A (p.Asp80Glu)
n.510T>A
2g.55680893T>ACA346938922PNPT1c.479A>T (p.Asp160Val)
c.*127A>T (n.*127A>T)
c.239A>T (p.Asp80Val)
n.509A>T

Number of alleles fetched