Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.55680883A>C | CA346938902 | PNPT1 | c.489T>G (p.Asn163Lys) c.*137T>G (n.*137T>G) c.249T>G (p.Asn83Lys) n.519T>G | |
2 | g.55680883A>G | CA426175459 | PNPT1 | c.489T>C (p.Asn163=) c.*137T>C (n.*137T>C) c.249T>C (p.Asn83=) n.519T>C | |
2 | g.55680883A>T | CA346938903 | PNPT1 | c.489T>A (p.Asn163Lys) c.*137T>A (n.*137T>A) c.249T>A (p.Asn83Lys) n.519T>A | |
2 | g.55680884T>A | CA346938904 | PNPT1 | c.488A>T (p.Asn163Ile) c.*136A>T (n.*136A>T) c.248A>T (p.Asn83Ile) n.518A>T | |
2 | g.55680884T>C | CA1668449 | PNPT1 | c.488A>G (p.Asn163Ser) c.*136A>G (n.*136A>G) c.248A>G (p.Asn83Ser) n.518A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.55680884T>G | CA346938905 | PNPT1 | c.488A>C (p.Asn163Thr) c.*136A>C (n.*136A>C) c.248A>C (p.Asn83Thr) n.518A>C | |
2 | g.55680884T= | CA1252405701 | PNPT1 | c.488A= (p.Asn163=) c.*136A= (n.*136A=) c.248A= (p.Asn83=) n.518A= | |
2 | g.55680885T>A | CA346938906 | PNPT1 | c.487A>T (p.Asn163Tyr) c.*135A>T (n.*135A>T) c.247A>T (p.Asn83Tyr) n.517A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.55680885T>C | CA346938908 | PNPT1 | c.487A>G (p.Asn163Asp) c.*135A>G (n.*135A>G) c.247A>G (p.Asn83Asp) n.517A>G | |
2 | g.55680885T>G | CA346938907 | PNPT1 | c.487A>C (p.Asn163His) c.*135A>C (n.*135A>C) c.247A>C (p.Asn83His) n.517A>C | |
2 | g.55680885T= | CA1252405702 | PNPT1 | c.487A= (p.Asn163=) c.*135A= (n.*135A=) c.247A= (p.Asn83=) n.517A= | |
2 | g.55680886T>A | CA426175460 | PNPT1 | c.486A>T (p.Val162=) c.*134A>T (n.*134A>T) c.246A>T (p.Val82=) n.516A>T | |
2 | g.55680886T>C | CA426175462 | PNPT1 | c.486A>G (p.Val162=) c.*134A>G (n.*134A>G) c.246A>G (p.Val82=) n.516A>G | |
2 | g.55680886T>G | CA426175461 | PNPT1 | c.486A>C (p.Val162=) c.*134A>C (n.*134A>C) c.246A>C (p.Val82=) n.516A>C | |
2 | g.55680887A>C | CA346938909 | PNPT1 | c.485T>G (p.Val162Gly) c.*133T>G (n.*133T>G) c.245T>G (p.Val82Gly) n.515T>G | |
2 | g.55680887A>G | CA346938910 | PNPT1 | c.485T>C (p.Val162Ala) c.*133T>C (n.*133T>C) c.245T>C (p.Val82Ala) n.515T>C | |
2 | g.55680887A>T | CA346938911 | PNPT1 | c.485T>A (p.Val162Glu) c.*133T>A (n.*133T>A) c.245T>A (p.Val82Glu) n.515T>A | |
2 | g.55680888C>A | CA346938912 | PNPT1 | c.484G>T (p.Val162Leu) c.*132G>T (n.*132G>T) c.244G>T (p.Val82Leu) n.514G>T | |
2 | g.55680888C= | CA1252405703 | PNPT1 | c.484G= (p.Val162=) c.*132G= (n.*132G=) c.244G= (p.Val82=) n.514G= | |
2 | g.55680888C>G | CA346938913 | PNPT1 | c.484G>C (p.Val162Leu) c.*132G>C (n.*132G>C) c.244G>C (p.Val82Leu) n.514G>C | |
2 | g.55680888C>T | CA346938914 | PNPT1 | c.484G>A (p.Val162Ile) c.*132G>A (n.*132G>A) c.244G>A (p.Val82Ile) n.514G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.55680889A>C | CA426175463 | PNPT1 | c.483T>G (p.Gly161=) c.*131T>G (n.*131T>G) c.243T>G (p.Gly81=) n.513T>G | |
2 | g.55680889A>G | CA426175464 | PNPT1 | c.483T>C (p.Gly161=) c.*131T>C (n.*131T>C) c.243T>C (p.Gly81=) n.513T>C | |
2 | g.55680889A>T | CA426175465 | PNPT1 | c.483T>A (p.Gly161=) c.*131T>A (n.*131T>A) c.243T>A (p.Gly81=) n.513T>A | |
2 | g.55680890C>A | CA1668450 | PNPT1 | c.482G>T (p.Gly161Val) c.*130G>T (n.*130G>T) c.242G>T (p.Gly81Val) n.512G>T | dbSNP ExAC gnomAD v2 |
2 | g.55680890C= | CA1252405704 | PNPT1 | c.482G= (p.Gly161=) c.*130G= (n.*130G=) c.242G= (p.Gly81=) n.512G= | |
2 | g.55680890C>G | CA346938915 | PNPT1 | c.482G>C (p.Gly161Ala) c.*130G>C (n.*130G>C) c.242G>C (p.Gly81Ala) n.512G>C | |
2 | g.55680890C>T | CA346938916 | PNPT1 | c.482G>A (p.Gly161Asp) c.*130G>A (n.*130G>A) c.242G>A (p.Gly81Asp) n.512G>A | |
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 |