Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.55680893T>CCA346938923PNPT1c.479A>G (p.Asp160Gly)
c.*127A>G (n.*127A>G)
c.239A>G (p.Asp80Gly)
n.509A>G
2g.55680893T>GCA346938924PNPT1c.479A>C (p.Asp160Ala)
c.*127A>C (n.*127A>C)
c.239A>C (p.Asp80Ala)
n.509A>C
2g.55680894C>ACA346938925PNPT1c.478G>T (p.Asp160Tyr)
c.*126G>T (n.*126G>T)
c.238G>T (p.Asp80Tyr)
n.508G>T
2g.55680894C>GCA346938926PNPT1c.478G>C (p.Asp160His)
c.*126G>C (n.*126G>C)
c.238G>C (p.Asp80His)
n.508G>C
2g.55680894C>TCA346938927PNPT1c.478G>A (p.Asp160Asn)
c.*126G>A (n.*126G>A)
c.238G>A (p.Asp80Asn)
n.508G>A
2g.55680895T>ACA426175467PNPT1c.477A>T (p.Val159=)
c.*125A>T (n.*125A>T)
c.237A>T (p.Val79=)
n.507A>T
2g.55680895T>CCA426175468PNPT1c.477A>G (p.Val159=)
c.*125A>G (n.*125A>G)
c.237A>G (p.Val79=)
n.507A>G
2g.55680895T>GCA426175469PNPT1c.477A>C (p.Val159=)
c.*125A>C (n.*125A>C)
c.237A>C (p.Val79=)
n.507A>C
 dbSNP gnomAD v2 gnomAD v4
2g.55680895T=CA1252405705PNPT1c.477A= (p.Val159=)
c.*125A= (n.*125A=)
c.237A= (p.Val79=)
n.507A=
2g.55680896A=CA1252405706PNPT1c.476T= (p.Val159=)
c.*124T= (n.*124T=)
c.236T= (p.Val79=)
n.506T=
2g.55680896A>CCA346938928PNPT1c.476T>G (p.Val159Gly)
c.*124T>G (n.*124T>G)
c.236T>G (p.Val79Gly)
n.506T>G
2g.55680896A>GCA1668451PNPT1c.476T>C (p.Val159Ala)
c.*124T>C (n.*124T>C)
c.236T>C (p.Val79Ala)
n.506T>C
 dbSNP ExAC gnomAD v2
2g.55680896A>TCA346938929PNPT1c.476T>A (p.Val159Glu)
c.*124T>A (n.*124T>A)
c.236T>A (p.Val79Glu)
n.506T>A
2g.55680897C>ACA346938932PNPT1c.475G>T (p.Val159Leu)
c.*123G>T (n.*123G>T)
c.235G>T (p.Val79Leu)
n.505G>T
2g.55680897C>GCA346938931PNPT1c.475G>C (p.Val159Leu)
c.*123G>C (n.*123G>C)
c.235G>C (p.Val79Leu)
n.505G>C
 ClinVar dbSNP
2g.55680897C>TCA346938930PNPT1c.475G>A (p.Val159Ile)
c.*123G>A (n.*123G>A)
c.235G>A (p.Val79Ile)
n.505G>A
 gnomAD v4
2g.55680898T>ACA426175470PNPT1c.474A>T (p.Ala158=)
c.*122A>T (n.*122A>T)
c.234A>T (p.Ala78=)
n.504A>T
2g.55680898T>CCA426175471PNPT1c.474A>G (p.Ala158=)
c.*122A>G (n.*122A>G)
c.234A>G (p.Ala78=)
n.504A>G
 gnomAD v4
2g.55680898T>GCA426175472PNPT1c.474A>C (p.Ala158=)
c.*122A>C (n.*122A>C)
c.234A>C (p.Ala78=)
n.504A>C
2g.55680899G>ACA1668452PNPT1c.473C>T (p.Ala158Val)
c.*121C>T (n.*121C>T)
c.233C>T (p.Ala78Val)
n.503C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.55680899G>CCA346938933PNPT1c.473C>G (p.Ala158Gly)
c.*121C>G (n.*121C>G)
c.233C>G (p.Ala78Gly)
n.503C>G
2g.55680899G=CA1252405707PNPT1c.473C= (p.Ala158=)
c.*121C= (n.*121C=)
c.233C= (p.Ala78=)
n.503C=
2g.55680899G>TCA346938934PNPT1c.473C>A (p.Ala158Glu)
c.*121C>A (n.*121C>A)
c.233C>A (p.Ala78Glu)
n.503C>A
2g.55680900C>ACA1668453PNPT1c.472G>T (p.Ala158Ser)
c.*120G>T (n.*120G>T)
c.232G>T (p.Ala78Ser)
n.502G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55680900C=CA1252405708PNPT1c.472G= (p.Ala158=)
c.*120G= (n.*120G=)
c.232G= (p.Ala78=)
n.502G=
2g.55680900C>GCA346938935PNPT1c.472G>C (p.Ala158Pro)
c.*120G>C (n.*120G>C)
c.232G>C (p.Ala78Pro)
n.502G>C
2g.55680900C>TCA346938936PNPT1c.472G>A (p.Ala158Thr)
c.*120G>A (n.*120G>A)
c.232G>A (p.Ala78Thr)
n.502G>A
2g.55680901T>ACA346938937PNPT1c.471A>T (p.Leu157Phe)
c.*119A>T (n.*119A>T)
c.231A>T (p.Leu77Phe)
n.501A>T
2g.55680901T>CCA426175473PNPT1c.471A>G (p.Leu157=)
c.*119A>G (n.*119A>G)
c.231A>G (p.Leu77=)
n.501A>G
 dbSNP

Number of alleles fetched