Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.55672024_55672026delinsCATCA1252401054PNPT1c.887_889delinsATG (p.Tyr296=)
c.*442_*444delinsATG (n.*442_*444delinsATG)
c.647_649delinsATG (p.Tyr216=)
n.917_919delinsATG
2g.55672026_55672027delCA426173689PNPT1c.887_888del (p.Tyr296CysfsTer9)
c.*442_*443del (n.*442_*443del)
c.647_648del (p.Tyr216CysfsTer9)
n.917_918del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.55672026T>ACA346932297PNPT1c.887A>T (p.Tyr296Phe)
c.*442A>T (n.*442A>T)
c.647A>T (p.Tyr216Phe)
n.917A>T
2g.55672026T>CCA324589PNPT1c.887A>G (p.Tyr296Cys)
c.*442A>G (n.*442A>G)
c.647A>G (p.Tyr216Cys)
n.917A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.55672026T>GCA346932299PNPT1c.887A>C (p.Tyr296Ser)
c.*442A>C (n.*442A>C)
c.647A>C (p.Tyr216Ser)
n.917A>C
2g.55672026T=CA1252401056PNPT1c.887A= (p.Tyr296=)
c.*442A= (n.*442A=)
c.647A= (p.Tyr216=)
n.917A=
2g.55672026_55672028delinsTAGCA1252401055PNPT1c.885_887delinsCTA (p.Leu295=)
c.*440_*442delinsCTA (n.*440_*442delinsCTA)
c.645_647delinsCTA (p.Leu215=)
n.915_917delinsCTA
2g.55672027A=CA1252401057PNPT1c.886T= (p.Tyr296=)
c.*441T= (n.*441T=)
c.646T= (p.Tyr216=)
n.916T=
2g.55672027A>CCA346932303PNPT1c.886T>G (p.Tyr296Asp)
c.*441T>G (n.*441T>G)
c.646T>G (p.Tyr216Asp)
n.916T>G
2g.55672027A>GCA346932305PNPT1c.886T>C (p.Tyr296His)
c.*441T>C (n.*441T>C)
c.646T>C (p.Tyr216His)
n.916T>C
 ClinVar dbSNP gnomAD v2
2g.55672027A>TCA346932307PNPT1c.886T>A (p.Tyr296Asn)
c.*441T>A (n.*441T>A)
c.646T>A (p.Tyr216Asn)
n.916T>A
2g.55672029_55672030delCA770355596PNPT1c.885_886del (p.Tyr296CysfsTer9)
c.*440_*441del (n.*440_*441del)
c.645_646del (p.Tyr216CysfsTer9)
n.915_916del
 ClinVar dbSNP
2g.55672028G>ACA426173692PNPT1c.885C>T (p.Leu295=)
c.*440C>T (n.*440C>T)
c.645C>T (p.Leu215=)
n.915C>T
 dbSNP gnomAD v4
2g.55672028G>CCA1668312PNPT1c.885C>G (p.Leu295=)
c.*440C>G (n.*440C>G)
c.645C>G (p.Leu215=)
n.915C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55672028G=CA1252401058PNPT1c.885C= (p.Leu295=)
c.*440C= (n.*440C=)
c.645C= (p.Leu215=)
n.915C=
2g.55672028G>TCA426173690PNPT1c.885C>A (p.Leu295=)
c.*440C>A (n.*440C>A)
c.645C>A (p.Leu215=)
n.915C>A
2g.55672029A>CCA346932315PNPT1c.884T>G (p.Leu295Arg)
c.*439T>G (n.*439T>G)
c.644T>G (p.Leu215Arg)
n.914T>G
2g.55672029A>GCA346932318PNPT1c.884T>C (p.Leu295Pro)
c.*439T>C (n.*439T>C)
c.644T>C (p.Leu215Pro)
n.914T>C
2g.55672029A>TCA346932322PNPT1c.884T>A (p.Leu295His)
c.*439T>A (n.*439T>A)
c.644T>A (p.Leu215His)
n.914T>A
2g.55672030G>ACA346932323PNPT1c.883C>T (p.Leu295Phe)
c.*438C>T (n.*438C>T)
c.643C>T (p.Leu215Phe)
n.913C>T
 gnomAD v4
2g.55672030G>CCA1668313PNPT1c.883C>G (p.Leu295Val)
c.*438C>G (n.*438C>G)
c.643C>G (p.Leu215Val)
n.913C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.55672030G=CA1252401059PNPT1c.883C= (p.Leu295=)
c.*438C= (n.*438C=)
c.643C= (p.Leu215=)
n.913C=
2g.55672030G>TCA346932324PNPT1c.883C>A (p.Leu295Ile)
c.*438C>A (n.*438C>A)
c.643C>A (p.Leu215Ile)
n.913C>A
 dbSNP
2g.55672031T>ACA346932327PNPT1c.882A>T (p.Arg294Ser)
c.*437A>T (n.*437A>T)
c.642A>T (p.Arg214Ser)
n.912A>T
2g.55672031T>CCA426173693PNPT1c.882A>G (p.Arg294=)
c.*437A>G (n.*437A>G)
c.642A>G (p.Arg214=)
n.912A>G
 dbSNP gnomAD v4
2g.55672031T>GCA346932329PNPT1c.882A>C (p.Arg294Ser)
c.*437A>C (n.*437A>C)
c.642A>C (p.Arg214Ser)
n.912A>C
2g.55672031T=CA1252401060PNPT1c.882A= (p.Arg294=)
c.*437A= (n.*437A=)
c.642A= (p.Arg214=)
n.912A=
2g.55672035_55672036dupCA2659133730PNPT1c.881_882dup (p.Leu295AspfsTer23)
c.*436_*437dup (n.*436_*437dup)
c.641_642dup (p.Leu215AspfsTer23)
n.911_912dup
 gnomAD v4
2g.55672032C>ACA346932342PNPT1c.881G>T (p.Arg294Ile)
c.*436G>T (n.*436G>T)
c.641G>T (p.Arg214Ile)
n.911G>T
2g.55672032C=CA1252401061PNPT1c.881G= (p.Arg294=)
c.*436G= (n.*436G=)
c.641G= (p.Arg214=)
n.911G=
2g.55672032C>GCA346932334PNPT1c.881G>C (p.Arg294Thr)
c.*436G>C (n.*436G>C)
c.641G>C (p.Arg214Thr)
n.911G>C
2g.55672032C>TCA346932340PNPT1c.881G>A (p.Arg294Lys)
c.*436G>A (n.*436G>A)
c.641G>A (p.Arg214Lys)
n.911G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.55672033T>ACA346932348PNPT1c.880A>T (p.Arg294Ter)
c.*435A>T (n.*435A>T)
c.640A>T (p.Arg214Ter)
n.910A>T
 COSMIC
2g.55672033T>CCA346932351PNPT1c.880A>G (p.Arg294Gly)
c.*435A>G (n.*435A>G)
c.640A>G (p.Arg214Gly)
n.910A>G
2g.55672033T>GCA426173695PNPT1c.880A>C (p.Arg294=)
c.*435A>C (n.*435A>C)
c.640A>C (p.Arg214=)
n.910A>C
2g.55672034C>ACA47663201PNPT1c.879G>T (p.Glu293Asp)
c.*434G>T (n.*434G>T)
c.639G>T (p.Glu213Asp)
n.909G>T
 dbSNP gnomAD v4
2g.55672034C=CA1252401062PNPT1c.879G= (p.Glu293=)
c.*434G= (n.*434G=)
c.639G= (p.Glu213=)
n.909G=
2g.55672034C>GCA346932358PNPT1c.879G>C (p.Glu293Asp)
c.*434G>C (n.*434G>C)
c.639G>C (p.Glu213Asp)
n.909G>C
 gnomAD v4
2g.55672034C>TCA426173696PNPT1c.879G>A (p.Glu293=)
c.*434G>A (n.*434G>A)
c.639G>A (p.Glu213=)
n.909G>A
2g.55672035T>ACA346932363PNPT1c.878A>T (p.Glu293Val)
c.*433A>T (n.*433A>T)
c.638A>T (p.Glu213Val)
n.908A>T
2g.55672035T>CCA346932364PNPT1c.878A>G (p.Glu293Gly)
c.*433A>G (n.*433A>G)
c.638A>G (p.Glu213Gly)
n.908A>G
 gnomAD v4
2g.55672035T>GCA346932375PNPT1c.878A>C (p.Glu293Ala)
c.*433A>C (n.*433A>C)
c.638A>C (p.Glu213Ala)
n.908A>C
2g.55672036C>ACA346932379PNPT1c.877G>T (p.Glu293Ter)
c.*432G>T (n.*432G>T)
c.637G>T (p.Glu213Ter)
n.907G>T
2g.55672036C>GCA346932382PNPT1c.877G>C (p.Glu293Gln)
c.*432G>C (n.*432G>C)
c.637G>C (p.Glu213Gln)
n.907G>C
2g.55672036C>TCA346932386PNPT1c.877G>A (p.Glu293Lys)
c.*432G>A (n.*432G>A)
c.637G>A (p.Glu213Lys)
n.907G>A
 gnomAD v4
2g.55672037C>ACA346932401PNPT1c.876G>T (p.Met292Ile)
c.*431G>T (n.*431G>T)
c.636G>T (p.Met212Ile)
n.906G>T
2g.55672037C>GCA346932394PNPT1c.876G>C (p.Met292Ile)
c.*431G>C (n.*431G>C)
c.636G>C (p.Met212Ile)
n.906G>C
2g.55672037C>TCA346932390PNPT1c.876G>A (p.Met292Ile)
c.*431G>A (n.*431G>A)
c.636G>A (p.Met212Ile)
n.906G>A
 gnomAD v4
2g.55672038A=CA1252401063PNPT1c.875T= (p.Met292=)
c.*430T= (n.*430T=)
c.635T= (p.Met212=)
n.905T=
2g.55672038A>CCA346932405PNPT1c.875T>G (p.Met292Arg)
c.*430T>G (n.*430T>G)
c.635T>G (p.Met212Arg)
n.905T>G
 ClinVar dbSNP

Number of alleles fetched