Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.55680891C>A | CA346938918 | PNPT1 | c.481G>T (p.Gly161Cys) c.*129G>T (n.*129G>T) c.241G>T (p.Gly81Cys) n.511G>T | gnomAD v4 |
2 | g.55680891C>G | CA346938919 | PNPT1 | c.481G>C (p.Gly161Arg) c.*129G>C (n.*129G>C) c.241G>C (p.Gly81Arg) n.511G>C | |
2 | g.55680891C>T | CA346938917 | PNPT1 | c.481G>A (p.Gly161Ser) c.*129G>A (n.*129G>A) c.241G>A (p.Gly81Ser) n.511G>A | |
2 | g.55680892A>C | CA346938920 | PNPT1 | c.480T>G (p.Asp160Glu) c.*128T>G (n.*128T>G) c.240T>G (p.Asp80Glu) n.510T>G | |
2 | g.55680892A>G | CA426175466 | PNPT1 | c.480T>C (p.Asp160=) c.*128T>C (n.*128T>C) c.240T>C (p.Asp80=) n.510T>C | |
2 | g.55680892A>T | CA346938921 | PNPT1 | c.480T>A (p.Asp160Glu) c.*128T>A (n.*128T>A) c.240T>A (p.Asp80Glu) n.510T>A | |
2 | g.55680893T>A | CA346938922 | PNPT1 | c.479A>T (p.Asp160Val) c.*127A>T (n.*127A>T) c.239A>T (p.Asp80Val) n.509A>T | |
2 | g.55680893T>C | CA346938923 | PNPT1 | c.479A>G (p.Asp160Gly) c.*127A>G (n.*127A>G) c.239A>G (p.Asp80Gly) n.509A>G | |
2 | g.55680893T>G | CA346938924 | PNPT1 | c.479A>C (p.Asp160Ala) c.*127A>C (n.*127A>C) c.239A>C (p.Asp80Ala) n.509A>C | |
2 | g.55680894C>A | CA346938925 | PNPT1 | c.478G>T (p.Asp160Tyr) c.*126G>T (n.*126G>T) c.238G>T (p.Asp80Tyr) n.508G>T | |
2 | g.55680894C>G | CA346938926 | PNPT1 | c.478G>C (p.Asp160His) c.*126G>C (n.*126G>C) c.238G>C (p.Asp80His) n.508G>C | |
2 | g.55680894C>T | CA346938927 | PNPT1 | c.478G>A (p.Asp160Asn) c.*126G>A (n.*126G>A) c.238G>A (p.Asp80Asn) n.508G>A | |
2 | g.55680895T>A | CA426175467 | PNPT1 | c.477A>T (p.Val159=) c.*125A>T (n.*125A>T) c.237A>T (p.Val79=) n.507A>T | |
2 | g.55680895T>C | CA426175468 | PNPT1 | c.477A>G (p.Val159=) c.*125A>G (n.*125A>G) c.237A>G (p.Val79=) n.507A>G | |
2 | g.55680895T>G | CA426175469 | PNPT1 | c.477A>C (p.Val159=) c.*125A>C (n.*125A>C) c.237A>C (p.Val79=) n.507A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.55680895T= | CA1252405705 | PNPT1 | c.477A= (p.Val159=) c.*125A= (n.*125A=) c.237A= (p.Val79=) n.507A= | |
2 | g.55680896A= | CA1252405706 | PNPT1 | c.476T= (p.Val159=) c.*124T= (n.*124T=) c.236T= (p.Val79=) n.506T= | |
2 | g.55680896A>C | CA346938928 | PNPT1 | c.476T>G (p.Val159Gly) c.*124T>G (n.*124T>G) c.236T>G (p.Val79Gly) n.506T>G | |
2 | g.55680896A>G | CA1668451 | PNPT1 | c.476T>C (p.Val159Ala) c.*124T>C (n.*124T>C) c.236T>C (p.Val79Ala) n.506T>C | dbSNP ExAC gnomAD v2 |
2 | g.55680896A>T | CA346938929 | PNPT1 | c.476T>A (p.Val159Glu) c.*124T>A (n.*124T>A) c.236T>A (p.Val79Glu) n.506T>A | |
2 | g.55680897C>A | CA346938932 | PNPT1 | c.475G>T (p.Val159Leu) c.*123G>T (n.*123G>T) c.235G>T (p.Val79Leu) n.505G>T | |
2 | g.55680897C>G | CA346938931 | PNPT1 | c.475G>C (p.Val159Leu) c.*123G>C (n.*123G>C) c.235G>C (p.Val79Leu) n.505G>C | ClinVar dbSNP |
2 | g.55680897C>T | CA346938930 | PNPT1 | c.475G>A (p.Val159Ile) c.*123G>A (n.*123G>A) c.235G>A (p.Val79Ile) n.505G>A | gnomAD v4 |
2 | g.55680898T>A | CA426175470 | PNPT1 | c.474A>T (p.Ala158=) c.*122A>T (n.*122A>T) c.234A>T (p.Ala78=) n.504A>T | |
2 | g.55680898T>C | CA426175471 | PNPT1 | c.474A>G (p.Ala158=) c.*122A>G (n.*122A>G) c.234A>G (p.Ala78=) n.504A>G | gnomAD v4 |
2 | g.55680898T>G | CA426175472 | PNPT1 | c.474A>C (p.Ala158=) c.*122A>C (n.*122A>C) c.234A>C (p.Ala78=) n.504A>C | |
2 | g.55680899G>A | CA1668452 | PNPT1 | c.473C>T (p.Ala158Val) c.*121C>T (n.*121C>T) c.233C>T (p.Ala78Val) n.503C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.55680899G>C | CA346938933 | PNPT1 | c.473C>G (p.Ala158Gly) c.*121C>G (n.*121C>G) c.233C>G (p.Ala78Gly) n.503C>G | |
2 | g.55680899G= | CA1252405707 | PNPT1 | c.473C= (p.Ala158=) c.*121C= (n.*121C=) c.233C= (p.Ala78=) n.503C= | |
2 | g.55680899G>T | CA346938934 | PNPT1 | c.473C>A (p.Ala158Glu) c.*121C>A (n.*121C>A) c.233C>A (p.Ala78Glu) n.503C>A | |
2 | g.55680900C>A | CA1668453 | PNPT1 | c.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 |
2 | g.55680900C= | CA1252405708 | PNPT1 | c.472G= (p.Ala158=) c.*120G= (n.*120G=) c.232G= (p.Ala78=) n.502G= | |
2 | g.55680900C>G | CA346938935 | PNPT1 | c.472G>C (p.Ala158Pro) c.*120G>C (n.*120G>C) c.232G>C (p.Ala78Pro) n.502G>C | |
2 | g.55680900C>T | CA346938936 | PNPT1 | c.472G>A (p.Ala158Thr) c.*120G>A (n.*120G>A) c.232G>A (p.Ala78Thr) n.502G>A | |
2 | g.55680901T>A | CA346938937 | PNPT1 | c.471A>T (p.Leu157Phe) c.*119A>T (n.*119A>T) c.231A>T (p.Leu77Phe) n.501A>T | |
2 | g.55680901T>C | CA426175473 | PNPT1 | c.471A>G (p.Leu157=) c.*119A>G (n.*119A>G) c.231A>G (p.Leu77=) n.501A>G | dbSNP |
2 | g.55680901T>G | CA346938938 | PNPT1 | c.471A>C (p.Leu157Phe) c.*119A>C (n.*119A>C) c.231A>C (p.Leu77Phe) n.501A>C | |
2 | g.55680901T= | CA1252405709 | PNPT1 | c.471A= (p.Leu157=) c.*119A= (n.*119A=) c.231A= (p.Leu77=) n.501A= | |
2 | g.55680902A= | CA1252405710 | PNPT1 | c.470T= (p.Leu157=) c.*118T= (n.*118T=) c.230T= (p.Leu77=) n.500T= | |
2 | g.55680902A>C | CA346938939 | PNPT1 | c.470T>G (p.Leu157Ter) c.*118T>G (n.*118T>G) c.230T>G (p.Leu77Ter) n.500T>G | |
2 | g.55680902A>G | CA1668454 | PNPT1 | c.470T>C (p.Leu157Ser) c.*118T>C (n.*118T>C) c.230T>C (p.Leu77Ser) n.500T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.55680902A>T | CA346938940 | PNPT1 | c.470T>A (p.Leu157Ter) c.*118T>A (n.*118T>A) c.230T>A (p.Leu77Ter) n.500T>A | |
2 | g.55680903A>C | CA346938941 | PNPT1 | c.469T>G (p.Leu157Val) c.*117T>G (n.*117T>G) c.229T>G (p.Leu77Val) n.499T>G | |
2 | g.55680903A>G | CA426175474 | PNPT1 | c.469T>C (p.Leu157=) c.*117T>C (n.*117T>C) c.229T>C (p.Leu77=) n.499T>C | |
2 | g.55680903A>T | CA346938942 | PNPT1 | c.469T>A (p.Leu157Ile) c.*117T>A (n.*117T>A) c.229T>A (p.Leu77Ile) n.499T>A | |
2 | g.55680904C>A | CA426175475 | PNPT1 | c.468G>T (p.Leu156=) c.*116G>T (n.*116G>T) c.228G>T (p.Leu76=) n.498G>T | |
2 | g.55680904C= | CA1252405711 | PNPT1 | c.468G= (p.Leu156=) c.*116G= (n.*116G=) c.228G= (p.Leu76=) n.498G= | |
2 | g.55680904C>G | CA426175476 | PNPT1 | c.468G>C (p.Leu156=) c.*116G>C (n.*116G>C) c.228G>C (p.Leu76=) n.498G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.55680904C>T | CA426175477 | PNPT1 | c.468G>A (p.Leu156=) c.*116G>A (n.*116G>A) c.228G>A (p.Leu76=) n.498G>A | dbSNP |
2 | g.55680905A= | CA1252405712 | PNPT1 | c.467T= (p.Leu156=) c.*115T= (n.*115T=) c.227T= (p.Leu76=) n.497T= |