Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.55684965T=CA1252408009PNPT1c.381A= (p.Glu127=)
c.*29A= (n.*29A=)
c.141A= (p.Glu47=)
n.411A=
2g.55684966T>ACA346940572PNPT1c.380A>T (p.Glu127Val)
c.*28A>T (n.*28A>T)
c.140A>T (p.Glu47Val)
n.410A>T
2g.55684966T>CCA346940574PNPT1c.380A>G (p.Glu127Gly)
c.*28A>G (n.*28A>G)
c.140A>G (p.Glu47Gly)
n.410A>G
 dbSNP gnomAD v3 gnomAD v4
2g.55684966T>GCA346940576PNPT1c.380A>C (p.Glu127Ala)
c.*28A>C (n.*28A>C)
c.140A>C (p.Glu47Ala)
n.410A>C
 dbSNP gnomAD v3 gnomAD v4
2g.55684966T=CA1252408010PNPT1c.380A= (p.Glu127=)
c.*28A= (n.*28A=)
c.140A= (p.Glu47=)
n.410A=
2g.55684967C>ACA346940578PNPT1c.379G>T (p.Glu127Ter)
c.*27G>T (n.*27G>T)
c.139G>T (p.Glu47Ter)
n.409G>T
 gnomAD v4
2g.55684967C>GCA346940579PNPT1c.379G>C (p.Glu127Gln)
c.*27G>C (n.*27G>C)
c.139G>C (p.Glu47Gln)
n.409G>C
2g.55684967C>TCA346940580PNPT1c.379G>A (p.Glu127Lys)
c.*27G>A (n.*27G>A)
c.139G>A (p.Glu47Lys)
n.409G>A
2g.55684968T>ACA346940584PNPT1c.378A>T (p.Lys126Asn)
c.*26A>T (n.*26A>T)
c.138A>T (p.Lys46Asn)
n.408A>T
2g.55684968T>CCA1668529PNPT1c.378A>G (p.Lys126=)
c.*26A>G (n.*26A>G)
c.138A>G (p.Lys46=)
n.408A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55684968T>GCA346940587PNPT1c.378A>C (p.Lys126Asn)
c.*26A>C (n.*26A>C)
c.138A>C (p.Lys46Asn)
n.408A>C
2g.55684968T=CA1252408011PNPT1c.378A= (p.Lys126=)
c.*26A= (n.*26A=)
c.138A= (p.Lys46=)
n.408A=
2g.55684970delCA2659134786PNPT1c.378del (p.Glu127LysfsTer3)
c.*26del (n.*26del)
c.138del (p.Glu47LysfsTer3)
n.408del
 gnomAD v4
2g.55684969T>ACA346940598PNPT1c.377A>T (p.Lys126Ile)
c.*25A>T (n.*25A>T)
c.137A>T (p.Lys46Ile)
n.407A>T
2g.55684969T>CCA346940605PNPT1c.377A>G (p.Lys126Arg)
c.*25A>G (n.*25A>G)
c.137A>G (p.Lys46Arg)
n.407A>G
2g.55684969T>GCA346940608PNPT1c.377A>C (p.Lys126Thr)
c.*25A>C (n.*25A>C)
c.137A>C (p.Lys46Thr)
n.407A>C
 gnomAD v4
2g.55684970T>ACA346940621PNPT1c.376A>T (p.Lys126Ter)
c.*24A>T (n.*24A>T)
c.136A>T (p.Lys46Ter)
n.406A>T
2g.55684970T>CCA346940622PNPT1c.376A>G (p.Lys126Glu)
c.*24A>G (n.*24A>G)
c.136A>G (p.Lys46Glu)
n.406A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.55684970T>GCA346940619PNPT1c.376A>C (p.Lys126Gln)
c.*24A>C (n.*24A>C)
c.136A>C (p.Lys46Gln)
n.406A>C
2g.55684970T=CA1252408012PNPT1c.376A= (p.Lys126=)
c.*24A= (n.*24A=)
c.136A= (p.Lys46=)
n.406A=
2g.55684971A>CCA346940623PNPT1c.375T>G (p.Asp125Glu)
c.*23T>G (n.*23T>G)
c.135T>G (p.Asp45Glu)
n.405T>G
2g.55684971A>GCA426175930PNPT1c.375T>C (p.Asp125=)
c.*23T>C (n.*23T>C)
c.135T>C (p.Asp45=)
n.405T>C
2g.55684971A>TCA346940625PNPT1c.375T>A (p.Asp125Glu)
c.*23T>A (n.*23T>A)
c.135T>A (p.Asp45Glu)
n.405T>A
2g.55684972T>ACA346940628PNPT1c.374A>T (p.Asp125Val)
c.*22A>T (n.*22A>T)
c.134A>T (p.Asp45Val)
n.404A>T
2g.55684972T>CCA346940629PNPT1c.374A>G (p.Asp125Gly)
c.*22A>G (n.*22A>G)
c.134A>G (p.Asp45Gly)
n.404A>G
 dbSNP gnomAD v4
2g.55684972T>GCA346940632PNPT1c.374A>C (p.Asp125Ala)
c.*22A>C (n.*22A>C)
c.134A>C (p.Asp45Ala)
n.404A>C
2g.55684972T=CA1252408013PNPT1c.374A= (p.Asp125=)
c.*22A= (n.*22A=)
c.134A= (p.Asp45=)
n.404A=
2g.55684973C>ACA346940645PNPT1c.373G>T (p.Asp125Tyr)
c.*21G>T (n.*21G>T)
c.133G>T (p.Asp45Tyr)
n.403G>T
 gnomAD v4
2g.55684973C>GCA346940643PNPT1c.373G>C (p.Asp125His)
c.*21G>C (n.*21G>C)
c.133G>C (p.Asp45His)
n.403G>C
2g.55684973C>TCA346940640PNPT1c.373G>A (p.Asp125Asn)
c.*21G>A (n.*21G>A)
c.133G>A (p.Asp45Asn)
n.403G>A
2g.55684974A>CCA426175931PNPT1c.372T>G (p.Ser124=)
c.*20T>G (n.*20T>G)
c.132T>G (p.Ser44=)
n.402T>G
2g.55684974A>GCA426175932PNPT1c.372T>C (p.Ser124=)
c.*20T>C (n.*20T>C)
c.132T>C (p.Ser44=)
n.402T>C
 gnomAD v4
2g.55684974A>TCA426175933PNPT1c.372T>A (p.Ser124=)
c.*20T>A (n.*20T>A)
c.132T>A (p.Ser44=)
n.402T>A
2g.55684975G>ACA346940647PNPT1c.371C>T (p.Ser124Phe)
c.*19C>T (n.*19C>T)
c.131C>T (p.Ser44Phe)
n.401C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.55684975G>CCA346940649PNPT1c.371C>G (p.Ser124Cys)
c.*19C>G (n.*19C>G)
c.131C>G (p.Ser44Cys)
n.401C>G
 gnomAD v4
2g.55684975G=CA1252408014PNPT1c.371C= (p.Ser124=)
c.*19C= (n.*19C=)
c.131C= (p.Ser44=)
n.401C=
2g.55684975G>TCA346940652PNPT1c.371C>A (p.Ser124Tyr)
c.*19C>A (n.*19C>A)
c.131C>A (p.Ser44Tyr)
n.401C>A
2g.55684976A>CCA346940656PNPT1c.370T>G (p.Ser124Ala)
c.*18T>G (n.*18T>G)
c.130T>G (p.Ser44Ala)
n.400T>G
2g.55684976A>GCA346940661PNPT1c.370T>C (p.Ser124Pro)
c.*18T>C (n.*18T>C)
c.130T>C (p.Ser44Pro)
n.400T>C
 gnomAD v4 COSMIC
2g.55684976A>TCA346940682PNPT1c.370T>A (p.Ser124Thr)
c.*18T>A (n.*18T>A)
c.130T>A (p.Ser44Thr)
n.400T>A
2g.55684977A>CCA426175936PNPT1c.369T>G (p.Thr123=)
c.*17T>G (n.*17T>G)
c.129T>G (p.Thr43=)
n.399T>G
2g.55684977A>GCA426175935PNPT1c.369T>C (p.Thr123=)
c.*17T>C (n.*17T>C)
c.129T>C (p.Thr43=)
n.399T>C
 gnomAD v4
2g.55684977A>TCA426175934PNPT1c.369T>A (p.Thr123=)
c.*17T>A (n.*17T>A)
c.129T>A (p.Thr43=)
n.399T>A
2g.55684978G>ACA346940687PNPT1c.368C>T (p.Thr123Ile)
c.*16C>T (n.*16C>T)
c.128C>T (p.Thr43Ile)
n.398C>T
 gnomAD v4
2g.55684978G>CCA346940698PNPT1c.368C>G (p.Thr123Ser)
c.*16C>G (n.*16C>G)
c.128C>G (p.Thr43Ser)
n.398C>G
2g.55684978G>TCA346940695PNPT1c.368C>A (p.Thr123Asn)
c.*16C>A (n.*16C>A)
c.128C>A (p.Thr43Asn)
n.398C>A
 gnomAD v4
2g.55684979T>ACA346940704PNPT1c.367A>T (p.Thr123Ser)
c.*15A>T (n.*15A>T)
c.127A>T (p.Thr43Ser)
n.397A>T
2g.55684979T>CCA346940706PNPT1c.367A>G (p.Thr123Ala)
c.*15A>G (n.*15A>G)
c.127A>G (p.Thr43Ala)
n.397A>G
 gnomAD v4
2g.55684979T>GCA346940709PNPT1c.367A>C (p.Thr123Pro)
c.*15A>C (n.*15A>C)
c.127A>C (p.Thr43Pro)
n.397A>C
2g.55684980A>CCA426175937PNPT1c.366T>G (p.Gly122=)
c.*14T>G (n.*14T>G)
c.126T>G (p.Gly42=)
n.396T>G
2g.55684980A>GCA426175938PNPT1c.366T>C (p.Gly122=)
c.*14T>C (n.*14T>C)
c.126T>C (p.Gly42=)
n.396T>C
 gnomAD v4
2g.55684980A>TCA426175939PNPT1c.366T>A (p.Gly122=)
c.*14T>A (n.*14T>A)
c.126T>A (p.Gly42=)
n.396T>A
2g.55684981C>ACA346940710PNPT1c.365G>T (p.Gly122Val)
c.*13G>T (n.*13G>T)
c.125G>T (p.Gly42Val)
n.395G>T
 gnomAD v4
2g.55684981C=CA1252408015PNPT1c.365G= (p.Gly122=)
c.*13G= (n.*13G=)
c.125G= (p.Gly42=)
n.395G=
2g.55684981C>GCA346940711PNPT1c.365G>C (p.Gly122Ala)
c.*13G>C (n.*13G>C)
c.125G>C (p.Gly42Ala)
n.395G>C
2g.55684981C>TCA346940712PNPT1c.365G>A (p.Gly122Asp)
c.*13G>A (n.*13G>A)
c.125G>A (p.Gly42Asp)
n.395G>A
 dbSNP gnomAD v4
2g.55684982C>ACA346940714PNPT1c.364G>T (p.Gly122Cys)
c.*12G>T (n.*12G>T)
c.124G>T (p.Gly42Cys)
n.394G>T
2g.55684982C=CA1252408016PNPT1c.364G= (p.Gly122=)
c.*12G= (n.*12G=)
c.124G= (p.Gly42=)
n.394G=
2g.55684982C>GCA346940717PNPT1c.364G>C (p.Gly122Arg)
c.*12G>C (n.*12G>C)
c.124G>C (p.Gly42Arg)
n.394G>C
 dbSNP gnomAD v2 gnomAD v4
2g.55684982C>TCA1668530PNPT1c.364G>A (p.Gly122Ser)
c.*12G>A (n.*12G>A)
c.124G>A (p.Gly42Ser)
n.394G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55684983A=CA1252408017PNPT1c.363T= (p.Ile121=)
c.*11T= (n.*11T=)
c.123T= (p.Ile41=)
n.393T=
2g.55684983A>CCA346940723PNPT1c.363T>G (p.Ile121Met)
c.*11T>G (n.*11T>G)
c.123T>G (p.Ile41Met)
n.393T>G
 dbSNP gnomAD v4
2g.55684983A>GCA426175941PNPT1c.363T>C (p.Ile121=)
c.*11T>C (n.*11T>C)
c.123T>C (p.Ile41=)
n.393T>C
2g.55684983A>TCA426175940PNPT1c.363T>A (p.Ile121=)
c.*11T>A (n.*11T>A)
c.123T>A (p.Ile41=)
n.393T>A
2g.55684984A=CA1252408018PNPT1c.362T= (p.Ile121=)
c.*10T= (n.*10T=)
c.122T= (p.Ile41=)
n.392T=
2g.55684984A>CCA346940728PNPT1c.362T>G (p.Ile121Ser)
c.*10T>G (n.*10T>G)
c.122T>G (p.Ile41Ser)
n.392T>G
 gnomAD v4
2g.55684984A>GCA346940732PNPT1c.362T>C (p.Ile121Thr)
c.*10T>C (n.*10T>C)
c.122T>C (p.Ile41Thr)
n.392T>C
 gnomAD v4
2g.55684984A>TCA346940733PNPT1c.362T>A (p.Ile121Asn)
c.*10T>A (n.*10T>A)
c.122T>A (p.Ile41Asn)
n.392T>A
 dbSNP
2g.55684985T>ACA346940744PNPT1c.361A>T (p.Ile121Phe)
c.*9A>T (n.*9A>T)
c.121A>T (p.Ile41Phe)
n.391A>T
 gnomAD v4
2g.55684985T>CCA292823PNPT1c.361A>G (p.Ile121Val)
c.*9A>G (n.*9A>G)
c.121A>G (p.Ile41Val)
n.391A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55684985T>GCA346940738PNPT1c.361A>C (p.Ile121Leu)
c.*9A>C (n.*9A>C)
c.121A>C (p.Ile41Leu)
n.391A>C
2g.55684985T=CA1252408019PNPT1c.361A= (p.Ile121=)
c.*9A= (n.*9A=)
c.121A= (p.Ile41=)
n.391A=
2g.55684986C>ACA346940748PNPT1c.360G>T (p.Glu120Asp)
c.*8G>T (n.*8G>T)
c.120G>T (p.Glu40Asp)
n.390G>T
 gnomAD v4
2g.55684986C>GCA346940751PNPT1c.360G>C (p.Glu120Asp)
c.*8G>C (n.*8G>C)
c.120G>C (p.Glu40Asp)
n.390G>C
2g.55684986C>TCA426175942PNPT1c.360G>A (p.Glu120=)
c.*8G>A (n.*8G>A)
c.120G>A (p.Glu40=)
n.390G>A
 gnomAD v4
2g.55684987T>ACA346940752PNPT1c.359A>T (p.Glu120Val)
c.*7A>T (n.*7A>T)
c.119A>T (p.Glu40Val)
n.389A>T
 gnomAD v4
2g.55684987T>CCA346940753PNPT1c.359A>G (p.Glu120Gly)
c.*7A>G (n.*7A>G)
c.119A>G (p.Glu40Gly)
n.389A>G
 gnomAD v4
2g.55684987T>GCA346940754PNPT1c.359A>C (p.Glu120Ala)
c.*7A>C (n.*7A>C)
c.119A>C (p.Glu40Ala)
n.389A>C
2g.55684988C>ACA346940756PNPT1c.358G>T (p.Glu120Ter)
c.*6G>T (n.*6G>T)
c.118G>T (p.Glu40Ter)
n.388G>T
2g.55684988C=CA1252408020PNPT1c.358G= (p.Glu120=)
c.*6G= (n.*6G=)
c.118G= (p.Glu40=)
n.388G=
2g.55684988C>GCA346940759PNPT1c.358G>C (p.Glu120Gln)
c.*6G>C (n.*6G>C)
c.118G>C (p.Glu40Gln)
n.388G>C
 dbSNP gnomAD v2 gnomAD v4
2g.55684988C>TCA346940778PNPT1c.358G>A (p.Glu120Lys)
c.*6G>A (n.*6G>A)
c.118G>A (p.Glu40Lys)
n.388G>A
2g.55684989T>ACA346940780PNPT1c.357A>T (p.Arg119Ser)
c.*5A>T (n.*5A>T)
c.117A>T (p.Arg39Ser)
n.387A>T
2g.55684989T>CCA1668531PNPT1c.357A>G (p.Arg119=)
c.*5A>G (n.*5A>G)
c.117A>G (p.Arg39=)
n.387A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55684989T>GCA346940781PNPT1c.357A>C (p.Arg119Ser)
c.*5A>C (n.*5A>C)
c.117A>C (p.Arg39Ser)
n.387A>C
2g.55684989T=CA1252408021PNPT1c.357A= (p.Arg119=)
c.*5A= (n.*5A=)
c.117A= (p.Arg39=)
n.387A=
2g.55684990C>ACA346940785PNPT1c.356G>T (p.Arg119Ile)
c.*4G>T (n.*4G>T)
c.116G>T (p.Arg39Ile)
n.386G>T
 dbSNP gnomAD v3 gnomAD v4
2g.55684990C=CA1252408022PNPT1c.356G= (p.Arg119=)
c.*4G= (n.*4G=)
c.116G= (p.Arg39=)
n.386G=
2g.55684990C>GCA346940787PNPT1c.356G>C (p.Arg119Thr)
c.*4G>C (n.*4G>C)
c.116G>C (p.Arg39Thr)
n.386G>C
2g.55684990C>TCA1668532PNPT1c.356G>A (p.Arg119Lys)
c.*4G>A (n.*4G>A)
c.116G>A (p.Arg39Lys)
n.386G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.55684991T>ACA346940798PNPT1c.355A>T (p.Arg119Ter)
c.*3A>T (n.*3A>T)
c.115A>T (p.Arg39Ter)
n.385A>T
2g.55684991T>CCA346940801PNPT1c.355A>G (p.Arg119Gly)
c.*3A>G (n.*3A>G)
c.115A>G (p.Arg39Gly)
n.385A>G
2g.55684991T>GCA426175943PNPT1c.355A>C (p.Arg119=)
c.*3A>C (n.*3A>C)
c.115A>C (p.Arg39=)
n.385A>C
2g.55684992T>ACA346940807PNPT1c.354A>T (p.Arg118Ser)
c.*2A>T (n.*2A>T)
c.114A>T (p.Arg38Ser)
n.384A>T
2g.55684992T>CCA426175944PNPT1c.354A>G (p.Arg118=)
c.*2A>G (n.*2A>G)
c.114A>G (p.Arg38=)
n.384A>G
 gnomAD v4
2g.55684992T>GCA346940811PNPT1c.354A>C (p.Arg118Ser)
c.*2A>C (n.*2A>C)
c.114A>C (p.Arg38Ser)
n.384A>C
2g.55684993C>ACA346940817PNPT1c.353G>T (p.Arg118Ile)
c.*1G>T (n.*1G>T)
c.113G>T (p.Arg38Ile)
n.383G>T
2g.55684993C>GCA346940819PNPT1c.353G>C (p.Arg118Thr)
c.*1G>C (n.*1G>C)
c.113G>C (p.Arg38Thr)
n.383G>C
 gnomAD v4
2g.55684993C>TCA346940821PNPT1c.353G>A (p.Arg118Lys)
c.*1G>A (n.*1G>A)
c.113G>A (p.Arg38Lys)
n.383G>A
2g.55684994T>ACA346940826PNPT1c.352A>T (p.Arg118Ter)
c.216A>T (p.Ter72Cys)
c.112A>T (p.Arg38Ter)
n.382A>T
2g.55684994T>CCA346940830PNPT1c.352A>G (p.Arg118Gly)
c.216A>G (p.Ter72Trp)
c.112A>G (p.Arg38Gly)
n.382A>G
 gnomAD v4
2g.55684994T>GCA346940836PNPT1c.352A>C (p.Arg118=)
c.216A>C (p.Ter72Cys)
c.112A>C (p.Arg38=)
n.382A>C
2g.55684995C>ACA346940840PNPT1c.351G>T (p.Leu117=)
c.215G>T (p.Ter72Leu)
c.111G>T (p.Leu37=)
n.381G>T
 gnomAD v4
2g.55684995C=CA1252408023PNPT1c.351G= (p.Leu117=)
c.215G= (p.Ter72=)
c.111G= (p.Leu37=)
n.381G=
2g.55684995C>GCA346940844PNPT1c.351G>C (p.Leu117=)
c.215G>C (p.Ter72Ser)
c.111G>C (p.Leu37=)
n.381G>C
2g.55684995C>TCA1668533PNPT1c.351G>A (p.Leu117=)
c.215G>A (p.Ter72=)
c.111G>A (p.Leu37=)
n.381G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.55684996A=CA1252408024PNPT1c.350T= (p.Leu117=)
c.214T= (p.Ter72=)
c.110T= (p.Leu37=)
n.380T=
2g.55684996A>CCA346940867PNPT1c.350T>G (p.Leu117Arg)
c.214T>G (p.Ter72Gly)
c.110T>G (p.Leu37Arg)
n.380T>G
2g.55684996A>GCA320987PNPT1c.350T>C (p.Leu117Pro)
c.214T>C (p.Ter72Arg)
c.110T>C (p.Leu37Pro)
n.380T>C
 dbSNP gnomAD v4
2g.55684996A>TCA346940877PNPT1c.350T>A (p.Leu117Gln)
c.214T>A (p.Ter72Arg)
c.110T>A (p.Leu37Gln)
n.380T>A
2g.55684997G>ACA426175945PNPT1c.349C>T (p.Leu117=)
c.213C>T (p.Ile71=)
c.109C>T (p.Leu37=)
n.379C>T
 gnomAD v4
2g.55684997G>CCA346940908PNPT1c.349C>G (p.Leu117Val)
c.213C>G (p.Ile71Met)
c.109C>G (p.Leu37Val)
n.379C>G
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.55684997G=CA1252408025PNPT1c.349C= (p.Leu117=)
c.213C= (p.Ile71=)
c.109C= (p.Leu37=)
n.379C=
2g.55684997G>TCA346940884PNPT1c.349C>A (p.Leu117Met)
c.213C>A (p.Ile71=)
c.109C>A (p.Leu37Met)
n.379C>A
2g.55684998A=CA1252408026PNPT1c.348T= (p.Tyr116=)
c.212T= (p.Ile71=)
c.108T= (p.Tyr36=)
n.378T=
2g.55684998A>CCA346940912PNPT1c.348T>G (p.Tyr116Ter)
c.212T>G (p.Ile71Ser)
c.108T>G (p.Tyr36Ter)
n.378T>G
2g.55684998A>GCA1668534PNPT1c.348T>C (p.Tyr116=)
c.212T>C (p.Ile71Thr)
c.108T>C (p.Tyr36=)
n.378T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55684998A>TCA346940913PNPT1c.348T>A (p.Tyr116Ter)
c.212T>A (p.Ile71Asn)
c.108T>A (p.Tyr36Ter)
n.378T>A
2g.55684999T>ACA346940915PNPT1c.347A>T (p.Tyr116Phe)
c.211A>T (p.Ile71Phe)
c.107A>T (p.Tyr36Phe)
n.377A>T
2g.55684999T>CCA346940917PNPT1c.347A>G (p.Tyr116Cys)
c.211A>G (p.Ile71Val)
c.107A>G (p.Tyr36Cys)
n.377A>G
 dbSNP gnomAD v3 gnomAD v4
2g.55684999T>GCA346940920PNPT1c.347A>C (p.Tyr116Ser)
c.211A>C (p.Ile71Leu)
c.107A>C (p.Tyr36Ser)
n.377A>C
 dbSNP gnomAD v4
2g.55684999T=CA1252408027PNPT1c.347A= (p.Tyr116=)
c.211A= (p.Ile71=)
c.107A= (p.Tyr36=)
n.377A=
2g.55685000A>CCA346940932PNPT1c.346T>G (p.Tyr116Asp)
c.210T>G (p.Thr70=)
c.106T>G (p.Tyr36Asp)
n.376T>G
2g.55685000A>GCA346940929PNPT1c.346T>C (p.Tyr116His)
c.210T>C (p.Thr70=)
c.106T>C (p.Tyr36His)
n.376T>C
 gnomAD v4
2g.55685000A>TCA346940926PNPT1c.346T>A (p.Tyr116Asn)
c.210T>A (p.Thr70=)
c.106T>A (p.Tyr36Asn)
n.376T>A
2g.55685001G>ACA346940939PNPT1c.345C>T (p.Asn115=)
c.209C>T (p.Thr70Ile)
c.105C>T (p.Asn35=)
n.375C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.55685001G>CCA346940944PNPT1c.345C>G (p.Asn115Lys)
c.209C>G (p.Thr70Ser)
c.105C>G (p.Asn35Lys)
n.375C>G
2g.55685001G=CA1252408028PNPT1c.345C= (p.Asn115=)
c.209C= (p.Thr70=)
c.105C= (p.Asn35=)
n.375C=
2g.55685001G>TCA346940948PNPT1c.345C>A (p.Asn115Lys)
c.209C>A (p.Thr70Asn)
c.105C>A (p.Asn35Lys)
n.375C>A
2g.55685002T>ACA346940949PNPT1c.344A>T (p.Asn115Ile)
c.208A>T (p.Thr70Ser)
c.104A>T (p.Asn35Ile)
n.374A>T
2g.55685002T>CCA346940950PNPT1c.344A>G (p.Asn115Ser)
c.208A>G (p.Thr70Ala)
c.104A>G (p.Asn35Ser)
n.374A>G
2g.55685002T>GCA346940953PNPT1c.344A>C (p.Asn115Thr)
c.208A>C (p.Thr70Pro)
c.104A>C (p.Asn35Thr)
n.374A>C
2g.55685003T>ACA346940958PNPT1c.343A>T (p.Asn115Tyr)
c.207A>T (p.Gln69His)
c.103A>T (p.Asn35Tyr)
n.373A>T
 gnomAD v4
2g.55685003T>CCA346940967PNPT1c.343A>G (p.Asn115Asp)
c.207A>G (p.Gln69=)
c.103A>G (p.Asn35Asp)
n.373A>G
2g.55685003T>GCA346940963PNPT1c.343A>C (p.Asn115His)
c.207A>C (p.Gln69His)
c.103A>C (p.Asn35His)
n.373A>C
 ClinVar dbSNP
2g.55685003T=CA1252408029PNPT1c.343A= (p.Asn115=)
c.207A= (p.Gln69=)
c.103A= (p.Asn35=)
n.373A=
2g.55685004T>ACA346940975PNPT1c.342A>T (p.Thr114=)
c.206A>T (p.Gln69Leu)
c.102A>T (p.Thr34=)
n.372A>T
2g.55685004T>CCA346940978PNPT1c.342A>G (p.Thr114=)
c.206A>G (p.Gln69Arg)
c.102A>G (p.Thr34=)
n.372A>G
2g.55685004T>GCA346940982PNPT1c.342A>C (p.Thr114=)
c.206A>C (p.Gln69Pro)
c.102A>C (p.Thr34=)
n.372A>C
2g.55685005G>ACA346940990PNPT1c.341C>T (p.Thr114Ile)
c.205C>T (p.Gln69Ter)
c.101C>T (p.Thr34Ile)
n.371C>T
2g.55685005G>CCA346940995PNPT1c.341C>G (p.Thr114Arg)
c.205C>G (p.Gln69Glu)
c.101C>G (p.Thr34Arg)
n.371C>G
2g.55685005G>TCA346940998PNPT1c.341C>A (p.Thr114Lys)
c.205C>A (p.Gln69Lys)
c.101C>A (p.Thr34Lys)
n.371C>A
 gnomAD v4
2g.55685006T>ACA346941004PNPT1c.340A>T (p.Thr114Ser)
c.204A>T (p.Pro68=)
c.100A>T (p.Thr34Ser)
n.370A>T
2g.55685006T>CCA346941005PNPT1c.340A>G (p.Thr114Ala)
c.204A>G (p.Pro68=)
c.100A>G (p.Thr34Ala)
n.370A>G
2g.55685006T>GCA346941006PNPT1c.340A>C (p.Thr114Pro)
c.204A>C (p.Pro68=)
c.100A>C (p.Thr34Pro)
n.370A>C
2g.55685007G>ACA1668535PNPT1c.339C>T (p.Pro113=)
c.203C>T (p.Pro68Leu)
c.99C>T (p.Pro33=)
n.369C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55685007G>CCA346941009PNPT1c.339C>G (p.Pro113=)
c.203C>G (p.Pro68Arg)
c.99C>G (p.Pro33=)
n.369C>G
2g.55685007G=CA1252408030PNPT1c.339C= (p.Pro113=)
c.203C= (p.Pro68=)
c.99C= (p.Pro33=)
n.369C=
2g.55685007G>TCA346941012PNPT1c.339C>A (p.Pro113=)
c.203C>A (p.Pro68Gln)
c.99C>A (p.Pro33=)
n.369C>A
 gnomAD v4
2g.55685009delCA2659134787PNPT1c.339del (p.Thr114GlnfsTer4)
c.203del (p.Pro68HisfsTer12)
c.203del (p.Pro68HisfsTer?)
c.99del (p.Thr34GlnfsTer4)
n.369del
 gnomAD v4
2g.55685008G>ACA1668536PNPT1c.338C>T (p.Pro113Leu)
c.202C>T (p.Pro68Ser)
c.98C>T (p.Pro33Leu)
n.368C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55685008G>CCA346941014PNPT1c.338C>G (p.Pro113Arg)
c.202C>G (p.Pro68Ala)
c.98C>G (p.Pro33Arg)
n.368C>G
2g.55685008G=CA1252408031PNPT1c.338C= (p.Pro113=)
c.202C= (p.Pro68=)
c.98C= (p.Pro33=)
n.368C=
2g.55685008G>TCA346941017PNPT1c.338C>A (p.Pro113His)
c.202C>A (p.Pro68Thr)
c.98C>A (p.Pro33His)
n.368C>A
 dbSNP gnomAD v2 gnomAD v4
2g.55685009G>ACA47666056PNPT1c.337C>T (p.Pro113Ser)
c.201C>T (p.Phe67=)
c.97C>T (p.Pro33Ser)
n.367C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.55685009G>CCA346941018PNPT1c.337C>G (p.Pro113Ala)
c.201C>G (p.Phe67Leu)
c.97C>G (p.Pro33Ala)
n.367C>G
2g.55685009G=CA1252408032PNPT1c.337C= (p.Pro113=)
c.201C= (p.Phe67=)
c.97C= (p.Pro33=)
n.367C=
2g.55685009G>TCA346941021PNPT1c.337C>A (p.Pro113Thr)
c.201C>A (p.Phe67Leu)
c.97C>A (p.Pro33Thr)
n.367C>A
 gnomAD v4
2g.55685010A>CCA346941039PNPT1c.336T>G (p.Ile112Met)
c.200T>G (p.Phe67Cys)
c.96T>G (p.Ile32Met)
n.366T>G
2g.55685010A>GCA346941043PNPT1c.336T>C (p.Ile112=)
c.200T>C (p.Phe67Ser)
c.96T>C (p.Ile32=)
n.366T>C
 gnomAD v4
2g.55685010A>TCA346941044PNPT1c.336T>A (p.Ile112=)
c.200T>A (p.Phe67Tyr)
c.96T>A (p.Ile32=)
n.366T>A
2g.55685011A>CCA346941051PNPT1c.335T>G (p.Ile112Ser)
c.199T>G (p.Phe67Val)
c.95T>G (p.Ile32Ser)
n.365T>G
2g.55685011A>GCA346941047PNPT1c.335T>C (p.Ile112Thr)
c.199T>C (p.Phe67Leu)
c.95T>C (p.Ile32Thr)
n.365T>C
2g.55685011A>TCA346941045PNPT1c.335T>A (p.Ile112Asn)
c.199T>A (p.Phe67Ile)
c.95T>A (p.Ile32Asn)
n.365T>A
2g.55685012T>ACA346941056PNPT1c.334A>T (p.Ile112Phe)
c.198A>T (p.Glu66Asp)
c.94A>T (p.Ile32Phe)
n.364A>T
2g.55685012T>CCA346941059PNPT1c.334A>G (p.Ile112Val)
c.198A>G (p.Glu66=)
c.94A>G (p.Ile32Val)
n.364A>G
2g.55685012T>GCA346941066PNPT1c.334A>C (p.Ile112Leu)
c.198A>C (p.Glu66Asp)
c.94A>C (p.Ile32Leu)
n.364A>C
2g.55685013T>ACA346941073PNPT1c.333A>T (p.Arg111Ser)
c.197A>T (p.Glu66Val)
c.93A>T (p.Arg31Ser)
n.363A>T
2g.55685013T>CCA346941082PNPT1c.333A>G (p.Arg111=)
c.197A>G (p.Glu66Gly)
c.93A>G (p.Arg31=)
n.363A>G
 gnomAD v4
2g.55685013T>GCA346941086PNPT1c.333A>C (p.Arg111Ser)
c.197A>C (p.Glu66Ala)
c.93A>C (p.Arg31Ser)
n.363A>C
2g.55685014C>ACA346941091PNPT1c.332G>T (p.Arg111Ile)
c.196G>T (p.Glu66Ter)
c.92G>T (p.Arg31Ile)
n.362G>T
2g.55685014C>GCA346941097PNPT1c.332G>C (p.Arg111Thr)
c.196G>C (p.Glu66Gln)
c.92G>C (p.Arg31Thr)
n.362G>C
2g.55685014C>TCA346941094PNPT1c.332G>A (p.Arg111Lys)
c.196G>A (p.Glu66Lys)
c.92G>A (p.Arg31Lys)
n.362G>A
2g.55685015T>ACA346941098PNPT1c.331A>T (p.Arg111Ter)
c.195A>T (p.Val65=)
c.91A>T (p.Arg31Ter)
n.361A>T
2g.55685015T>CCA346941099PNPT1c.331A>G (p.Arg111Gly)
c.195A>G (p.Val65=)
c.91A>G (p.Arg31Gly)
n.361A>G
2g.55685015T>GCA426175946PNPT1c.331A>C (p.Arg111=)
c.195A>C (p.Val65=)
c.91A>C (p.Arg31=)
n.361A>C
2g.55685016A>CCA346941101PNPT1c.330T>G (p.Gly110=)
c.194T>G (p.Val65Gly)
c.90T>G (p.Gly30=)
n.360T>G
2g.55685016A>GCA346941102PNPT1c.330T>C (p.Gly110=)
c.194T>C (p.Val65Ala)
c.90T>C (p.Gly30=)
n.360T>C
 gnomAD v4
2g.55685016A>TCA346941105PNPT1c.330T>A (p.Gly110=)
c.194T>A (p.Val65Glu)
c.90T>A (p.Gly30=)
n.360T>A
2g.55685017C>ACA346941109PNPT1c.329G>T (p.Gly110Val)
c.193G>T (p.Val65Leu)
c.89G>T (p.Gly30Val)
n.359G>T
2g.55685017C=CA1252408033PNPT1c.329G= (p.Gly110=)
c.193G= (p.Val65=)
c.89G= (p.Gly30=)
n.359G=
2g.55685017C>GCA346941123PNPT1c.329G>C (p.Gly110Ala)
c.193G>C (p.Val65Leu)
c.89G>C (p.Gly30Ala)
n.359G>C
 gnomAD v4
2g.55685017C>TCA346941127PNPT1c.329G>A (p.Gly110Asp)
c.193G>A (p.Val65Ile)
c.89G>A (p.Gly30Asp)
n.359G>A
 dbSNP gnomAD v4
2g.55685018C>ACA346941132PNPT1c.328G>T (p.Gly110Cys)
c.192G>T (p.Gln64His)
c.88G>T (p.Gly30Cys)
n.358G>T
 gnomAD v4
2g.55685018C>GCA346941140PNPT1c.328G>C (p.Gly110Arg)
c.192G>C (p.Gln64His)
c.88G>C (p.Gly30Arg)
n.358G>C
2g.55685018C>TCA346941143PNPT1c.328G>A (p.Gly110Ser)
c.192G>A (p.Gln64=)
c.88G>A (p.Gly30Ser)
n.358G>A
2g.55685019T>ACA346941157PNPT1c.327A>T (p.Ala109=)
c.191A>T (p.Gln64Leu)
c.87A>T (p.Ala29=)
n.357A>T
2g.55685019T>CCA346941149PNPT1c.327A>G (p.Ala109=)
c.191A>G (p.Gln64Arg)
c.87A>G (p.Ala29=)
n.357A>G
 ClinVar dbSNP
2g.55685019T>GCA346941154PNPT1c.327A>C (p.Ala109=)
c.191A>C (p.Gln64Pro)
c.87A>C (p.Ala29=)
n.357A>C
 dbSNP gnomAD v2 gnomAD v4
2g.55685019T=CA1252408034PNPT1c.327A= (p.Ala109=)
c.191A= (p.Gln64=)
c.87A= (p.Ala29=)
n.357A=
2g.55685020G>ACA346941158PNPT1c.326C>T (p.Ala109Val)
c.190C>T (p.Gln64Ter)
c.86C>T (p.Ala29Val)
n.356C>T
 gnomAD v4
2g.55685020G>CCA346941159PNPT1c.326C>G (p.Ala109Gly)
c.190C>G (p.Gln64Glu)
c.86C>G (p.Ala29Gly)
n.356C>G
2g.55685020G>TCA346941160PNPT1c.326C>A (p.Ala109Glu)
c.190C>A (p.Gln64Lys)
c.86C>A (p.Ala29Glu)
n.356C>A
2g.55685021C>ACA346941163PNPT1c.325G>T (p.Ala109Ser)
c.189G>T (p.Gln63His)
c.85G>T (p.Ala29Ser)
n.355G>T
 gnomAD v4
2g.55685021C=CA1252408035PNPT1c.325G= (p.Ala109=)
c.189G= (p.Gln63=)
c.85G= (p.Ala29=)
n.355G=
2g.55685021C>GCA346941166PNPT1c.325G>C (p.Ala109Pro)
c.189G>C (p.Gln63His)
c.85G>C (p.Ala29Pro)
n.355G>C
2g.55685021C>TCA346941174PNPT1c.325G>A (p.Ala109Thr)
c.189G>A (p.Gln63=)
c.85G>A (p.Ala29Thr)
n.355G>A
 dbSNP
2g.55685022T>ACA346941175PNPT1c.324A>T (p.Ala108=)
c.188A>T (p.Gln63Leu)
c.84A>T (p.Ala28=)
n.354A>T
2g.55685022T>CCA346941176PNPT1c.324A>G (p.Ala108=)
c.188A>G (p.Gln63Arg)
c.84A>G (p.Ala28=)
n.354A>G
 gnomAD v4
2g.55685022T>GCA346941177PNPT1c.324A>C (p.Ala108=)
c.188A>C (p.Gln63Pro)
c.84A>C (p.Ala28=)
n.354A>C
2g.55685022T=CA1252408036PNPT1c.324A= (p.Ala108=)
c.188A= (p.Gln63=)
c.84A= (p.Ala28=)
n.354A=
2g.55685023G>ACA346941180PNPT1c.323C>T (p.Ala108Val)
c.187C>T (p.Gln63Ter)
c.83C>T (p.Ala28Val)
n.353C>T
 dbSNP gnomAD v3 gnomAD v4
2g.55685023G>CCA346941181PNPT1c.323C>G (p.Ala108Gly)
c.187C>G (p.Gln63Glu)
c.83C>G (p.Ala28Gly)
n.353C>G
2g.55685023G=CA1252408037PNPT1c.323C= (p.Ala108=)
c.187C= (p.Gln63=)
c.83C= (p.Ala28=)
n.353C=
2g.55685023G>TCA346941183PNPT1c.323C>A (p.Ala108Glu)
c.187C>A (p.Gln63Lys)
c.83C>A (p.Ala28Glu)
n.353C>A
2g.55685028_55685030dupCA1668537PNPT1c.321_323dup (p.Ala108_Ala109insAla)
c.185_187dup (p.Leu62_Gln63insLeu)
c.81_83dup (p.Ala28_Ala29insAla)
n.351_353dup
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.55685024C>ACA346941191PNPT1c.322G>T (p.Ala108Ser)
c.186G>T (p.Leu62=)
c.82G>T (p.Ala28Ser)
n.352G>T
 gnomAD v4
2g.55685024C>GCA346941188PNPT1c.322G>C (p.Ala108Pro)
c.186G>C (p.Leu62=)
c.82G>C (p.Ala28Pro)
n.352G>C
2g.55685024C>TCA346941189PNPT1c.322G>A (p.Ala108Thr)
c.186G>A (p.Leu62=)
c.82G>A (p.Ala28Thr)
n.352G>A
2g.55685025A>CCA346941192PNPT1c.321T>G (p.Ala107=)
c.185T>G (p.Leu62Arg)
c.81T>G (p.Ala27=)
n.351T>G
2g.55685025A>GCA346941195PNPT1c.321T>C (p.Ala107=)
c.185T>C (p.Leu62Pro)
c.81T>C (p.Ala27=)
n.351T>C
 gnomAD v4
2g.55685025A>TCA346941198PNPT1c.321T>A (p.Ala107=)
c.185T>A (p.Leu62Gln)
c.81T>A (p.Ala27=)
n.351T>A
2g.55685026G>ACA346941199PNPT1c.320C>T (p.Ala107Val)
c.184C>T (p.Leu62=)
c.80C>T (p.Ala27Val)
n.350C>T
 dbSNP gnomAD v2 gnomAD v4
2g.55685026G>CCA346941202PNPT1c.320C>G (p.Ala107Gly)
c.184C>G (p.Leu62Val)
c.80C>G (p.Ala27Gly)
n.350C>G
2g.55685026G=CA1252408038PNPT1c.320C= (p.Ala107=)
c.184C= (p.Leu62=)
c.80C= (p.Ala27=)
n.350C=
2g.55685026G>TCA346941209PNPT1c.320C>A (p.Ala107Asp)
c.184C>A (p.Leu62Met)
c.80C>A (p.Ala27Asp)
n.350C>A
 gnomAD v4
2g.55685027C>ACA346941219PNPT1c.319G>T (p.Ala107Ser)
c.183G>T (p.Leu61=)
c.79G>T (p.Ala27Ser)
n.349G>T
 gnomAD v4
2g.55685027C>GCA346941225PNPT1c.319G>C (p.Ala107Pro)
c.183G>C (p.Leu61=)
c.79G>C (p.Ala27Pro)
n.349G>C
2g.55685027C>TCA346941228PNPT1c.319G>A (p.Ala107Thr)
c.183G>A (p.Leu61=)
c.79G>A (p.Ala27Thr)
n.349G>A
 gnomAD v4
2g.55685028A>CCA346941229PNPT1c.318T>G (p.Ala106=)
c.182T>G (p.Leu61Arg)
c.78T>G (p.Ala26=)
n.348T>G
2g.55685028A>GCA346941232PNPT1c.318T>C (p.Ala106=)
c.182T>C (p.Leu61Pro)
c.78T>C (p.Ala26=)
n.348T>C
 gnomAD v4
2g.55685028A>TCA346941242PNPT1c.318T>A (p.Ala106=)
c.182T>A (p.Leu61Gln)
c.78T>A (p.Ala26=)
n.348T>A
2g.55685029G>ACA346941248PNPT1c.317C>T (p.Ala106Val)
c.181C>T (p.Leu61=)
c.77C>T (p.Ala26Val)
n.347C>T
2g.55685029G>CCA346941259PNPT1c.317C>G (p.Ala106Gly)
c.181C>G (p.Leu61Val)
c.77C>G (p.Ala26Gly)
n.347C>G
2g.55685029G=CA1252408039PNPT1c.317C= (p.Ala106=)
c.181C= (p.Leu61=)
c.77C= (p.Ala26=)
n.347C=
2g.55685029G>TCA346941256PNPT1c.317C>A (p.Ala106Asp)
c.181C>A (p.Leu61Met)
c.77C>A (p.Ala26Asp)
n.347C>A
 dbSNP
2g.55685030C>ACA346941261PNPT1c.316G>T (p.Ala106Ser)
c.180G>T (p.Lys60Asn)
c.76G>T (p.Ala26Ser)
n.346G>T
2g.55685030C>GCA346941265PNPT1c.316G>C (p.Ala106Pro)
c.180G>C (p.Lys60Asn)
c.76G>C (p.Ala26Pro)
n.346G>C
 gnomAD v4
2g.55685030C>TCA346941263PNPT1c.316G>A (p.Ala106Thr)
c.180G>A (p.Lys60=)
c.76G>A (p.Ala26Thr)
n.346G>A
2g.55685031T>ACA346941267PNPT1c.315A>T (p.Lys105Asn)
c.179A>T (p.Lys60Met)
c.75A>T (p.Lys25Asn)
n.345A>T
2g.55685031T>CCA346941294PNPT1c.315A>G (p.Lys105=)
c.179A>G (p.Lys60Arg)
c.75A>G (p.Lys25=)
n.345A>G
 gnomAD v4
2g.55685031T>GCA346941271PNPT1c.315A>C (p.Lys105Asn)
c.179A>C (p.Lys60Thr)
c.75A>C (p.Lys25Asn)
n.345A>C
2g.55685035delCA2659134788PNPT1c.315del (p.Ala106LeufsTer12)
c.179del (p.Lys60SerfsTer6)
c.75del (p.Ala26LeufsTer12)
n.345del
 gnomAD v4
2g.55685032T>ACA346941301PNPT1c.314A>T (p.Lys105Ile)
c.178A>T (p.Lys60Ter)
c.74A>T (p.Lys25Ile)
n.344A>T
2g.55685032T>CCA346941303PNPT1c.314A>G (p.Lys105Arg)
c.178A>G (p.Lys60Glu)
c.74A>G (p.Lys25Arg)
n.344A>G
2g.55685032T>GCA346941304PNPT1c.314A>C (p.Lys105Thr)
c.178A>C (p.Lys60Gln)
c.74A>C (p.Lys25Thr)
n.344A>C
2g.55685033T>ACA346941306PNPT1c.313A>T (p.Lys105Ter)
c.177A>T (p.Lys59Asn)
c.73A>T (p.Lys25Ter)
n.343A>T
2g.55685033T>CCA346941309PNPT1c.313A>G (p.Lys105Glu)
c.177A>G (p.Lys59=)
c.73A>G (p.Lys25Glu)
n.343A>G
 gnomAD v4
2g.55685033T>GCA346941311PNPT1c.313A>C (p.Lys105Gln)
c.177A>C (p.Lys59Asn)
c.73A>C (p.Lys25Gln)
n.343A>C
2g.55685034T>ACA1668538PNPT1c.312A>T (p.Gln104His)
c.176A>T (p.Lys59Ile)
c.72A>T (p.Gln24His)
n.342A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.55685034T>CCA1668539PNPT1c.312A>G (p.Gln104=)
c.176A>G (p.Lys59Arg)
c.72A>G (p.Gln24=)
n.342A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.55685034T>GCA346941319PNPT1c.312A>C (p.Gln104His)
c.176A>C (p.Lys59Thr)
c.72A>C (p.Gln24His)
n.342A>C
2g.55685034T=CA1252408040PNPT1c.312A= (p.Gln104=)
c.176A= (p.Lys59=)
c.72A= (p.Gln24=)
n.342A=
2g.55685035T>ACA346941327PNPT1c.311A>T (p.Gln104Leu)
c.175A>T (p.Lys59Ter)
c.71A>T (p.Gln24Leu)
n.341A>T
2g.55685035T>CCA346941334PNPT1c.311A>G (p.Gln104Arg)
c.175A>G (p.Lys59Glu)
c.71A>G (p.Gln24Arg)
n.341A>G
2g.55685035T>GCA346941342PNPT1c.311A>C (p.Gln104Pro)
c.175A>C (p.Lys59Gln)
c.71A>C (p.Gln24Pro)
n.341A>C
2g.55685036G>ACA346941351PNPT1c.310C>T (p.Gln104Ter)
c.174C>T (p.Asp58=)
c.70C>T (p.Gln24Ter)
n.340C>T
2g.55685036G>CCA346941362PNPT1c.310C>G (p.Gln104Glu)
c.174C>G (p.Asp58Glu)
c.70C>G (p.Gln24Glu)
n.340C>G
 gnomAD v4
2g.55685036G>TCA346941365PNPT1c.310C>A (p.Gln104Lys)
c.174C>A (p.Asp58Glu)
c.70C>A (p.Gln24Lys)
n.340C>A
2g.55685037T>ACA346941369PNPT1c.309A>T (p.Arg103Ser)
c.173A>T (p.Asp58Val)
c.69A>T (p.Arg23Ser)
n.339A>T
2g.55685037T>CCA346941373PNPT1c.309A>G (p.Arg103=)
c.173A>G (p.Asp58Gly)
c.69A>G (p.Arg23=)
n.339A>G
 dbSNP gnomAD v2 gnomAD v4
2g.55685037T>GCA346941372PNPT1c.309A>C (p.Arg103Ser)
c.173A>C (p.Asp58Ala)
c.69A>C (p.Arg23Ser)
n.339A>C
2g.55685037T=CA1252408041PNPT1c.309A= (p.Arg103=)
c.173A= (p.Asp58=)
c.69A= (p.Arg23=)
n.339A=
2g.55685038C>ACA346941375PNPT1c.308G>T (p.Arg103Ile)
c.172G>T (p.Asp58Tyr)
c.68G>T (p.Arg23Ile)
n.338G>T
 gnomAD v4
2g.55685038C=CA1252408042PNPT1c.308G= (p.Arg103=)
c.172G= (p.Asp58=)
c.68G= (p.Arg23=)
n.338G=
2g.55685038C>GCA346941378PNPT1c.308G>C (p.Arg103Thr)
c.172G>C (p.Asp58His)
c.68G>C (p.Arg23Thr)
n.338G>C
2g.55685038C>TCA346941390PNPT1c.308G>A (p.Arg103Lys)
c.172G>A (p.Asp58Asn)
c.68G>A (p.Arg23Lys)
n.338G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.55685039T>ACA346941393PNPT1c.307A>T (p.Arg103Ter)
c.171A>T (p.Thr57=)
c.67A>T (p.Arg23Ter)
n.337A>T
2g.55685039T>CCA346941396PNPT1c.307A>G (p.Arg103Gly)
c.171A>G (p.Thr57=)
c.67A>G (p.Arg23Gly)
n.337A>G
 gnomAD v4
2g.55685039T>GCA426175950PNPT1c.307A>C (p.Arg103=)
c.171A>C (p.Thr57=)
c.67A>C (p.Arg23=)
n.337A>C
2g.55685040G>ACA1668540PNPT1c.306C>T (p.Tyr102=)
c.170C>T (p.Thr57Ile)
c.66C>T (p.Tyr22=)
n.336C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.55685040G>CCA346941400PNPT1c.306C>G (p.Tyr102Ter)
c.170C>G (p.Thr57Arg)
c.66C>G (p.Tyr22Ter)
n.336C>G
2g.55685040G=CA1252408043PNPT1c.306C= (p.Tyr102=)
c.170C= (p.Thr57=)
c.66C= (p.Tyr22=)
n.336C=
2g.55685040G>TCA346941401PNPT1c.306C>A (p.Tyr102Ter)
c.170C>A (p.Thr57Lys)
c.66C>A (p.Tyr22Ter)
n.336C>A
2g.55685041T>ACA346941403PNPT1c.305A>T (p.Tyr102Phe)
c.169A>T (p.Thr57Ser)
c.65A>T (p.Tyr22Phe)
n.335A>T
2g.55685041T>CCA346941406PNPT1c.305A>G (p.Tyr102Cys)
c.169A>G (p.Thr57Ala)
c.65A>G (p.Tyr22Cys)
n.335A>G
 gnomAD v4
2g.55685041T>GCA346941409PNPT1c.305A>C (p.Tyr102Ser)
c.169A>C (p.Thr57Pro)
c.65A>C (p.Tyr22Ser)
n.335A>C
2g.55685042A>CCA346941418PNPT1c.304T>G (p.Tyr102Asp)
c.168T>G (p.Thr56=)
c.64T>G (p.Tyr22Asp)
n.334T>G
2g.55685042A>GCA346941427PNPT1c.304T>C (p.Tyr102His)
c.168T>C (p.Thr56=)
c.64T>C (p.Tyr22His)
n.334T>C
 gnomAD v4
2g.55685042A>TCA346941421PNPT1c.304T>A (p.Tyr102Asn)
c.168T>A (p.Thr56=)
c.64T>A (p.Tyr22Asn)
n.334T>A
2g.55685043G>ACA346941428PNPT1c.303C>T (p.Asp101=)
c.167C>T (p.Thr56Ile)
c.63C>T (p.Asp21=)
n.333C>T
 dbSNP
2g.55685043G>CCA346941429PNPT1c.303C>G (p.Asp101Glu)
c.167C>G (p.Thr56Ser)
c.63C>G (p.Asp21Glu)
n.333C>G
 dbSNP gnomAD v3 gnomAD v4
2g.55685043G=CA1252408044PNPT1c.303C= (p.Asp101=)
c.167C= (p.Thr56=)
c.63C= (p.Asp21=)
n.333C=
2g.55685043G>TCA346941430PNPT1c.303C>A (p.Asp101Glu)
c.167C>A (p.Thr56Asn)
c.63C>A (p.Asp21Glu)
n.333C>A
2g.55685044T>ACA346941431PNPT1c.302A>T (p.Asp101Val)
c.166A>T (p.Thr56Ser)
c.62A>T (p.Asp21Val)
n.332A>T
2g.55685044T>CCA346941434PNPT1c.302A>G (p.Asp101Gly)
c.166A>G (p.Thr56Ala)
c.62A>G (p.Asp21Gly)
n.332A>G
2g.55685044T>GCA346941437PNPT1c.302A>C (p.Asp101Ala)
c.166A>C (p.Thr56Pro)
c.62A>C (p.Asp21Ala)
n.332A>C
2g.55685045C>ACA346941442PNPT1c.301G>T (p.Asp101Tyr)
c.165G>T (p.Leu55Phe)
c.61G>T (p.Asp21Tyr)
n.331G>T
2g.55685045C>GCA346941443PNPT1c.301G>C (p.Asp101His)
c.165G>C (p.Leu55Phe)
c.61G>C (p.Asp21His)
n.331G>C
2g.55685045C>TCA346941444PNPT1c.301G>A (p.Asp101Asn)
c.165G>A (p.Leu55=)
c.61G>A (p.Asp21Asn)
n.331G>A
2g.55685046A=CA1252408045PNPT1c.300T= (p.Val100=)
c.164T= (p.Leu55=)
c.60T= (p.Val20=)
n.330T=
2g.55685046A>CCA47666060PNPT1c.300T>G (p.Val100=)
c.164T>G (p.Leu55Trp)
c.60T>G (p.Val20=)
n.330T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.55685046A>GCA346941454PNPT1c.300T>C (p.Val100=)
c.164T>C (p.Leu55Ser)
c.60T>C (p.Val20=)
n.330T>C
 gnomAD v4
2g.55685046A>TCA346941456PNPT1c.300T>A (p.Val100=)
c.164T>A (p.Leu55Ter)
c.60T>A (p.Val20=)
n.330T>A
2g.55685047A=CA1252408046PNPT1c.299T= (p.Val100=)
c.163T= (p.Leu55=)
c.59T= (p.Val20=)
n.329T=
2g.55685047A>CCA346941468PNPT1c.299T>G (p.Val100Gly)
c.163T>G (p.Leu55Val)
c.59T>G (p.Val20Gly)
n.329T>G
 ClinVar dbSNP
2g.55685047A>GCA346941466PNPT1c.299T>C (p.Val100Ala)
c.163T>C (p.Leu55=)
c.59T>C (p.Val20Ala)
n.329T>C
 gnomAD v4
2g.55685047A>TCA346941467PNPT1c.299T>A (p.Val100Asp)
c.163T>A (p.Leu55Met)
c.59T>A (p.Val20Asp)
n.329T>A
2g.55685048C>ACA346941469PNPT1c.298G>T (p.Val100Phe)
c.162G>T (p.Arg54Ser)
c.58G>T (p.Val20Phe)
n.328G>T
 gnomAD v4
2g.55685048C>GCA346941472PNPT1c.298G>C (p.Val100Leu)
c.162G>C (p.Arg54Ser)
c.58G>C (p.Val20Leu)
n.328G>C
2g.55685048C>TCA346941477PNPT1c.298G>A (p.Val100Ile)
c.162G>A (p.Arg54=)
c.58G>A (p.Val20Ile)
n.328G>A
2g.55685049C>ACA346941480PNPT1c.298-1G>T (n.298-1G>T)
c.162-1G>T (n.162-1G>T)
c.58-1G>T (n.58-1G>T)
n.328-1G>T
 gnomAD v4
2g.55685049C=CA1252408047PNPT1c.298-1G= (n.298-1G=)
c.162-1G= (n.162-1G=)
c.58-1G= (n.58-1G=)
n.328-1G=
2g.55685049C>GCA346941483PNPT1c.298-1G>C (n.298-1G>C)
c.162-1G>C (n.162-1G>C)
c.58-1G>C (n.58-1G>C)
n.328-1G>C
2g.55685049C>TCA1668541PNPT1c.298-1G>A (n.298-1G>A)
c.162-1G>A (n.162-1G>A)
c.58-1G>A (n.58-1G>A)
n.328-1G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.55685049_55685050insACCAAAGGCACA2659134789PNPT1c.298-2_298-1insTGCCTTTGGT (n.298-2_298-1insTGCCTTTGGT)
c.162-2_162-1insTGCCTTTGGT (n.162-2_162-1insTGCCTTTGGT)
c.58-2_58-1insTGCCTTTGGT (n.58-2_58-1insTGCCTTTGGT)
n.328-2_328-1insTGCCTTTGGT
 gnomAD v4
2g.55685050T>ACA346941487PNPT1c.298-2A>T (n.298-2A>T)
c.162-2A>T (n.162-2A>T)
c.58-2A>T (n.58-2A>T)
n.328-2A>T
 ClinVar dbSNP
2g.55685050T>CCA346941489PNPT1c.298-2A>G (n.298-2A>G)
c.162-2A>G (n.162-2A>G)
c.58-2A>G (n.58-2A>G)
n.328-2A>G
 dbSNP gnomAD v3 gnomAD v4
2g.55685050T>GCA346941491PNPT1c.298-2A>C (n.298-2A>C)
c.162-2A>C (n.162-2A>C)
c.58-2A>C (n.58-2A>C)
n.328-2A>C
2g.55685050T=CA1252408048PNPT1c.298-2A= (n.298-2A=)
c.162-2A= (n.162-2A=)
c.58-2A= (n.58-2A=)
n.328-2A=
2g.55685050_55685051insAAACTGGCA2659134790PNPT1c.298-3_298-2insCCAGTTT (n.298-3_298-2insCCAGTTT)
c.162-3_162-2insCCAGTTT (n.162-3_162-2insCCAGTTT)
c.58-3_58-2insCCAGTTT (n.58-3_58-2insCCAGTTT)
n.328-3_328-2insCCAGTTT
 gnomAD v4
2g.55685051G>ACA2659134791PNPT1c.298-3C>T (n.298-3C>T)
c.162-3C>T (n.162-3C>T)
c.58-3C>T (n.58-3C>T)
n.328-3C>T
 gnomAD v4
2g.55685052A=CA1252408049PNPT1c.298-4T= (n.298-4T=)
c.162-4T= (n.162-4T=)
c.58-4T= (n.58-4T=)
n.328-4T=
2g.55685052A>GCA2659134792PNPT1c.298-4T>C (n.298-4T>C)
c.162-4T>C (n.162-4T>C)
c.58-4T>C (n.58-4T>C)
n.328-4T>C
 gnomAD v4
2g.55685052A>TCA1668542PNPT1c.298-4T>A (n.298-4T>A)
c.162-4T>A (n.162-4T>A)
c.58-4T>A (n.58-4T>A)
n.328-4T>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.55685053A>GCA2659134793PNPT1c.298-5T>C (n.298-5T>C)
c.162-5T>C (n.162-5T>C)
c.58-5T>C (n.58-5T>C)
n.328-5T>C
 gnomAD v4
2g.55685053A>TCA2659134794PNPT1c.298-5T>A (n.298-5T>A)
c.162-5T>A (n.162-5T>A)
c.58-5T>A (n.58-5T>A)
n.328-5T>A
 gnomAD v4

Number of alleles fetched