Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.55684952G>ACA321958PNPT1c.394C>T (p.Arg132Ter)
c.*42C>T (n.*42C>T)
c.154C>T (p.Arg52Ter)
n.424C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55684952G>CCA346940485PNPT1c.394C>G (p.Arg132Gly)
c.*42C>G (n.*42C>G)
c.154C>G (p.Arg52Gly)
n.424C>G
2g.55684952G=CA1252408003PNPT1c.394C= (p.Arg132=)
c.*42C= (n.*42C=)
c.154C= (p.Arg52=)
n.424C=
2g.55684952G>TCA426175919PNPT1c.394C>A (p.Arg132=)
c.*42C>A (n.*42C>A)
c.154C>A (p.Arg52=)
n.424C>A
 gnomAD v4
2g.55684953A=CA1252408004PNPT1c.393T= (p.Ser131=)
c.*41T= (n.*41T=)
c.153T= (p.Ser51=)
n.423T=
2g.55684953A>CCA346940486PNPT1c.393T>G (p.Ser131Arg)
c.*41T>G (n.*41T>G)
c.153T>G (p.Ser51Arg)
n.423T>G
 ClinVar
2g.55684953A>GCA1668525PNPT1c.393T>C (p.Ser131=)
c.*41T>C (n.*41T>C)
c.153T>C (p.Ser51=)
n.423T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55684953A>TCA346940497PNPT1c.393T>A (p.Ser131Arg)
c.*41T>A (n.*41T>A)
c.153T>A (p.Ser51Arg)
n.423T>A
2g.55684954C>ACA346940499PNPT1c.392G>T (p.Ser131Ile)
c.*40G>T (n.*40G>T)
c.152G>T (p.Ser51Ile)
n.422G>T
 gnomAD v4
2g.55684954C>GCA346940503PNPT1c.392G>C (p.Ser131Thr)
c.*40G>C (n.*40G>C)
c.152G>C (p.Ser51Thr)
n.422G>C
 gnomAD v4
2g.55684954C>TCA346940506PNPT1c.392G>A (p.Ser131Asn)
c.*40G>A (n.*40G>A)
c.152G>A (p.Ser51Asn)
n.422G>A
2g.55684955T>ACA346940508PNPT1c.391A>T (p.Ser131Cys)
c.*39A>T (n.*39A>T)
c.151A>T (p.Ser51Cys)
n.421A>T
2g.55684955T>CCA346940511PNPT1c.391A>G (p.Ser131Gly)
c.*39A>G (n.*39A>G)
c.151A>G (p.Ser51Gly)
n.421A>G
2g.55684955T>GCA346940513PNPT1c.391A>C (p.Ser131Arg)
c.*39A>C (n.*39A>C)
c.151A>C (p.Ser51Arg)
n.421A>C
2g.55684956T>ACA426175922PNPT1c.390A>T (p.Thr130=)
c.*38A>T (n.*38A>T)
c.150A>T (p.Thr50=)
n.420A>T
2g.55684956T>CCA426175921PNPT1c.390A>G (p.Thr130=)
c.*38A>G (n.*38A>G)
c.150A>G (p.Thr50=)
n.420A>G
2g.55684956T>GCA426175920PNPT1c.390A>C (p.Thr130=)
c.*38A>C (n.*38A>C)
c.150A>C (p.Thr50=)
n.420A>C
2g.55684957G>ACA346940521PNPT1c.389C>T (p.Thr130Ile)
c.*37C>T (n.*37C>T)
c.149C>T (p.Thr50Ile)
n.419C>T
2g.55684957G>CCA346940519PNPT1c.389C>G (p.Thr130Arg)
c.*37C>G (n.*37C>G)
c.149C>G (p.Thr50Arg)
n.419C>G
 gnomAD v4
2g.55684957G>TCA346940516PNPT1c.389C>A (p.Thr130Lys)
c.*37C>A (n.*37C>A)
c.149C>A (p.Thr50Lys)
n.419C>A
 gnomAD v4
2g.55684958T>ACA346940528PNPT1c.388A>T (p.Thr130Ser)
c.*36A>T (n.*36A>T)
c.148A>T (p.Thr50Ser)
n.418A>T
2g.55684958T>CCA346940526PNPT1c.388A>G (p.Thr130Ala)
c.*36A>G (n.*36A>G)
c.148A>G (p.Thr50Ala)
n.418A>G
 gnomAD v4 COSMIC
2g.55684958T>GCA346940531PNPT1c.388A>C (p.Thr130Pro)
c.*36A>C (n.*36A>C)
c.148A>C (p.Thr50Pro)
n.418A>C
2g.55684959delCA2659134785PNPT1c.388del (p.Thr130GlnfsTer4)
c.*36del (n.*36del)
c.148del (p.Thr50GlnfsTer4)
n.418del
 gnomAD v4
2g.55684959T>ACA426175923PNPT1c.387A>T (p.Leu129=)
c.*35A>T (n.*35A>T)
c.147A>T (p.Leu49=)
n.417A>T
 dbSNP
2g.55684959T>CCA426175924PNPT1c.387A>G (p.Leu129=)
c.*35A>G (n.*35A>G)
c.147A>G (p.Leu49=)
n.417A>G
 gnomAD v4
2g.55684959T>GCA426175925PNPT1c.387A>C (p.Leu129=)
c.*35A>C (n.*35A>C)
c.147A>C (p.Leu49=)
n.417A>C
2g.55684960A>CCA346940535PNPT1c.386T>G (p.Leu129Arg)
c.*34T>G (n.*34T>G)
c.146T>G (p.Leu49Arg)
n.416T>G
2g.55684960A>GCA346940538PNPT1c.386T>C (p.Leu129Pro)
c.*34T>C (n.*34T>C)
c.146T>C (p.Leu49Pro)
n.416T>C
 gnomAD v4
2g.55684960A>TCA346940540PNPT1c.386T>A (p.Leu129Gln)
c.*34T>A (n.*34T>A)
c.146T>A (p.Leu49Gln)
n.416T>A
2g.55684961G>ACA426175926PNPT1c.385C>T (p.Leu129=)
c.*33C>T (n.*33C>T)
c.145C>T (p.Leu49=)
n.415C>T
2g.55684961G>CCA1668526PNPT1c.385C>G (p.Leu129Val)
c.*33C>G (n.*33C>G)
c.145C>G (p.Leu49Val)
n.415C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55684961G=CA1252408005PNPT1c.385C= (p.Leu129=)
c.*33C= (n.*33C=)
c.145C= (p.Leu49=)
n.415C=
2g.55684961G>TCA346940548PNPT1c.385C>A (p.Leu129Ile)
c.*33C>A (n.*33C>A)
c.145C>A (p.Leu49Ile)
n.415C>A
 gnomAD v4
2g.55684962A=CA1252408006PNPT1c.384T= (p.Ile128=)
c.*32T= (n.*32T=)
c.144T= (p.Ile48=)
n.414T=
2g.55684962A>CCA1668527PNPT1c.384T>G (p.Ile128Met)
c.*32T>G (n.*32T>G)
c.144T>G (p.Ile48Met)
n.414T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55684962A>GCA426175927PNPT1c.384T>C (p.Ile128=)
c.*32T>C (n.*32T>C)
c.144T>C (p.Ile48=)
n.414T>C
2g.55684962A>TCA426175928PNPT1c.384T>A (p.Ile128=)
c.*32T>A (n.*32T>A)
c.144T>A (p.Ile48=)
n.414T>A
2g.55684963A=CA1252408007PNPT1c.383T= (p.Ile128=)
c.*31T= (n.*31T=)
c.143T= (p.Ile48=)
n.413T=
2g.55684963A>CCA346940556PNPT1c.383T>G (p.Ile128Ser)
c.*31T>G (n.*31T>G)
c.143T>G (p.Ile48Ser)
n.413T>G
2g.55684963A>GCA1668528PNPT1c.383T>C (p.Ile128Thr)
c.*31T>C (n.*31T>C)
c.143T>C (p.Ile48Thr)
n.413T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55684963A>TCA346940560PNPT1c.383T>A (p.Ile128Asn)
c.*31T>A (n.*31T>A)
c.143T>A (p.Ile48Asn)
n.413T>A
2g.55684963_55684967delinsATTTCCA1252408008PNPT1c.379_383delinsGAAAT (p.Glu127=)
c.*27_*31delinsGAAAT (n.*27_*31delinsGAAAT)
c.139_143delinsGAAAT (p.Glu47=)
n.409_413delinsGAAAT
2g.55684964T>ACA346940562PNPT1c.382A>T (p.Ile128Phe)
c.*30A>T (n.*30A>T)
c.142A>T (p.Ile48Phe)
n.412A>T
2g.55684964T>CCA346940563PNPT1c.382A>G (p.Ile128Val)
c.*30A>G (n.*30A>G)
c.142A>G (p.Ile48Val)
n.412A>G
 gnomAD v4
2g.55684964T>GCA346940564PNPT1c.382A>C (p.Ile128Leu)
c.*30A>C (n.*30A>C)
c.142A>C (p.Ile48Leu)
n.412A>C
2g.55684967_55684970delCA532798693PNPT1c.379_382del (p.Glu127PhefsTer2)
c.*27_*30del (n.*27_*30del)
c.139_142del (p.Glu47PhefsTer2)
n.409_412del
 dbSNP gnomAD v2
2g.55684965T>ACA346940567PNPT1c.381A>T (p.Glu127Asp)
c.*29A>T (n.*29A>T)
c.141A>T (p.Glu47Asp)
n.411A>T
2g.55684965T>CCA426175929PNPT1c.381A>G (p.Glu127=)
c.*29A>G (n.*29A>G)
c.141A>G (p.Glu47=)
n.411A>G
2g.55684965T>GCA346940565PNPT1c.381A>C (p.Glu127Asp)
c.*29A>C (n.*29A>C)
c.141A>C (p.Glu47Asp)
n.411A>C
 dbSNP

Number of alleles fetched