Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.134200617C>ACA358375136PABPC4Lc.403G>T (p.Gly135Cys)
c.577G>T (p.Gly193Cys)
n.942G>T
n.937G>T
4g.134200617C=CA1495814821PABPC4Lc.403G= (p.Gly135=)
c.577G= (p.Gly193=)
n.942G=
n.937G=
4g.134200617C>GCA358375137PABPC4Lc.403G>C (p.Gly135Arg)
c.577G>C (p.Gly193Arg)
n.942G>C
n.937G>C
4g.134200617C>TCA358375138PABPC4Lc.403G>A (p.Gly135Ser)
c.577G>A (p.Gly193Ser)
n.942G>A
n.937G>A
 dbSNP gnomAD v4
4g.134200618T>ACA358375139PABPC4Lc.402A>T (p.Gln134His)
c.576A>T (p.Gln192His)
n.941A>T
n.936A>T
4g.134200618T>CCA441360991PABPC4Lc.402A>G (p.Gln134=)
c.576A>G (p.Gln192=)
n.941A>G
n.936A>G
4g.134200618T>GCA358375140PABPC4Lc.402A>C (p.Gln134His)
c.576A>C (p.Gln192His)
n.941A>C
n.936A>C
 dbSNP
4g.134200618T=CA1495814824PABPC4Lc.402A= (p.Gln134=)
c.576A= (p.Gln192=)
n.941A=
n.936A=
4g.134200619T>ACA358375141PABPC4Lc.401A>T (p.Gln134Leu)
c.575A>T (p.Gln192Leu)
n.940A>T
n.935A>T
4g.134200619T>CCA358375142PABPC4Lc.401A>G (p.Gln134Arg)
c.575A>G (p.Gln192Arg)
n.940A>G
n.935A>G
 dbSNP gnomAD v3 gnomAD v4
4g.134200619T>GCA358375143PABPC4Lc.401A>C (p.Gln134Pro)
c.575A>C (p.Gln192Pro)
n.940A>C
n.935A>C
4g.134200619T=CA1495814829PABPC4Lc.401A= (p.Gln134=)
c.575A= (p.Gln192=)
n.940A=
n.935A=
4g.134200620G>ACA358375144PABPC4Lc.400C>T (p.Gln134Ter)
c.574C>T (p.Gln192Ter)
n.939C>T
n.934C>T
 COSMIC COSMIC
4g.134200620G>CCA358375145PABPC4Lc.400C>G (p.Gln134Glu)
c.574C>G (p.Gln192Glu)
n.939C>G
n.934C>G
4g.134200620G>TCA358375146PABPC4Lc.400C>A (p.Gln134Lys)
c.574C>A (p.Gln192Lys)
n.939C>A
n.934C>A
4g.134200621A>CCA358375147PABPC4Lc.399T>G (p.Asp133Glu)
c.573T>G (p.Asp191Glu)
n.938T>G
n.933T>G
4g.134200621A>GCA441360992PABPC4Lc.399T>C (p.Asp133=)
c.573T>C (p.Asp191=)
n.938T>C
n.933T>C
4g.134200621A>TCA358375148PABPC4Lc.399T>A (p.Asp133Glu)
c.573T>A (p.Asp191Glu)
n.938T>A
n.933T>A
4g.134200622T>ACA358375151PABPC4Lc.398A>T (p.Asp133Val)
c.572A>T (p.Asp191Val)
n.937A>T
n.932A>T
4g.134200622T>CCA358375150PABPC4Lc.398A>G (p.Asp133Gly)
c.572A>G (p.Asp191Gly)
n.937A>G
n.932A>G
 dbSNP gnomAD v4
4g.134200622T>GCA358375149PABPC4Lc.398A>C (p.Asp133Ala)
c.572A>C (p.Asp191Ala)
n.937A>C
n.932A>C
 dbSNP gnomAD v4
4g.134200622T=CA1495814831PABPC4Lc.398A= (p.Asp133=)
c.572A= (p.Asp191=)
n.937A=
n.932A=
4g.134200623C>ACA358375152PABPC4Lc.397G>T (p.Asp133Tyr)
c.571G>T (p.Asp191Tyr)
n.936G>T
n.931G>T
4g.134200623C>GCA358375153PABPC4Lc.397G>C (p.Asp133His)
c.571G>C (p.Asp191His)
n.936G>C
n.931G>C
4g.134200623C>TCA358375154PABPC4Lc.397G>A (p.Asp133Asn)
c.571G>A (p.Asp191Asn)
n.936G>A
n.931G>A
4g.134200624A=CA1495814836PABPC4Lc.396T= (p.Asp132=)
c.570T= (p.Asp190=)
n.935T=
n.930T=
4g.134200624A>CCA358375155PABPC4Lc.396T>G (p.Asp132Glu)
c.570T>G (p.Asp190Glu)
n.935T>G
n.930T>G
 gnomAD v4
4g.134200624A>GCA441360993PABPC4Lc.396T>C (p.Asp132=)
c.570T>C (p.Asp190=)
n.935T>C
n.930T>C
 dbSNP gnomAD v4
4g.134200624A>TCA358375156PABPC4Lc.396T>A (p.Asp132Glu)
c.570T>A (p.Asp190Glu)
n.935T>A
n.930T>A
 gnomAD v4
4g.134200625T>ACA358375157PABPC4Lc.395A>T (p.Asp132Val)
c.569A>T (p.Asp190Val)
n.934A>T
n.929A>T
4g.134200625T>CCA358375158PABPC4Lc.395A>G (p.Asp132Gly)
c.569A>G (p.Asp190Gly)
n.934A>G
n.929A>G
4g.134200625T>GCA358375159PABPC4Lc.395A>C (p.Asp132Ala)
c.569A>C (p.Asp190Ala)
n.934A>C
n.929A>C
4g.134200626C>ACA358375160PABPC4Lc.394G>T (p.Asp132Tyr)
c.568G>T (p.Asp190Tyr)
n.933G>T
n.928G>T
4g.134200626C>GCA358375161PABPC4Lc.394G>C (p.Asp132His)
c.568G>C (p.Asp190His)
n.933G>C
n.928G>C
4g.134200626C>TCA358375162PABPC4Lc.394G>A (p.Asp132Asn)
c.568G>A (p.Asp190Asn)
n.933G>A
n.928G>A
4g.134200626dupCA2672091051PABPC4Lc.394dup (p.Asp132GlyfsTer2)
c.568dup (p.Asp190GlyfsTer2)
n.933dup
n.928dup
 gnomAD v4
4g.134200627A>CCA358375163PABPC4Lc.393T>G (p.Ser131Arg)
c.567T>G (p.Ser189Arg)
n.932T>G
n.927T>G
4g.134200627A>GCA441360994PABPC4Lc.393T>C (p.Ser131=)
c.567T>C (p.Ser189=)
n.932T>C
n.927T>C
4g.134200627A>TCA358375164PABPC4Lc.393T>A (p.Ser131Arg)
c.567T>A (p.Ser189Arg)
n.932T>A
n.927T>A
4g.134200628C>ACA358375166PABPC4Lc.392G>T (p.Ser131Ile)
c.566G>T (p.Ser189Ile)
n.931G>T
n.926G>T
4g.134200628C=CA1495814838PABPC4Lc.392G= (p.Ser131=)
c.566G= (p.Ser189=)
n.931G=
n.926G=
4g.134200628C>GCA358375167PABPC4Lc.392G>C (p.Ser131Thr)
c.566G>C (p.Ser189Thr)
n.931G>C
n.926G>C
4g.134200628C>TCA358375165PABPC4Lc.392G>A (p.Ser131Asn)
c.566G>A (p.Ser189Asn)
n.931G>A
n.926G>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200629T>ACA358375168PABPC4Lc.391A>T (p.Ser131Cys)
c.565A>T (p.Ser189Cys)
n.930A>T
n.925A>T
4g.134200629T>CCA358375169PABPC4Lc.391A>G (p.Ser131Gly)
c.565A>G (p.Ser189Gly)
n.930A>G
n.925A>G
4g.134200629T>GCA358375170PABPC4Lc.391A>C (p.Ser131Arg)
c.565A>C (p.Ser189Arg)
n.930A>C
n.925A>C
4g.134200630C>ACA358375171PABPC4Lc.390G>T (p.Met130Ile)
c.564G>T (p.Met188Ile)
n.929G>T
n.924G>T
4g.134200630C>GCA358375172PABPC4Lc.390G>C (p.Met130Ile)
c.564G>C (p.Met188Ile)
n.929G>C
n.924G>C
4g.134200630C>TCA358375173PABPC4Lc.390G>A (p.Met130Ile)
c.564G>A (p.Met188Ile)
n.929G>A
n.924G>A
 gnomAD v4
4g.134200631A>CCA358375174PABPC4Lc.389T>G (p.Met130Arg)
c.563T>G (p.Met188Arg)
n.928T>G
n.923T>G
4g.134200631A>GCA358375175PABPC4Lc.389T>C (p.Met130Thr)
c.563T>C (p.Met188Thr)
n.928T>C
n.923T>C
4g.134200631A>TCA358375176PABPC4Lc.389T>A (p.Met130Lys)
c.563T>A (p.Met188Lys)
n.928T>A
n.923T>A
 gnomAD v4
4g.134200632T>ACA358375177PABPC4Lc.388A>T (p.Met130Leu)
c.562A>T (p.Met188Leu)
n.927A>T
n.922A>T
 dbSNP gnomAD v4
4g.134200632T>CCA358375178PABPC4Lc.388A>G (p.Met130Val)
c.562A>G (p.Met188Val)
n.927A>G
n.922A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200632T>GCA358375179PABPC4Lc.388A>C (p.Met130Leu)
c.562A>C (p.Met188Leu)
n.927A>C
n.922A>C
4g.134200632T=CA1495814841PABPC4Lc.388A= (p.Met130=)
c.562A= (p.Met188=)
n.927A=
n.922A=
4g.134200633C>ACA441360995PABPC4Lc.387G>T (p.Val129=)
c.561G>T (p.Val187=)
n.926G>T
n.921G>T
4g.134200633C=CA1495814844PABPC4Lc.387G= (p.Val129=)
c.561G= (p.Val187=)
n.926G=
n.921G=
4g.134200633C>GCA441360996PABPC4Lc.387G>C (p.Val129=)
c.561G>C (p.Val187=)
n.926G>C
n.921G>C
4g.134200633C>TCA441360997PABPC4Lc.387G>A (p.Val129=)
c.561G>A (p.Val187=)
n.926G>A
n.921G>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200634A>CCA358375182PABPC4Lc.386T>G (p.Val129Gly)
c.560T>G (p.Val187Gly)
n.925T>G
n.920T>G
4g.134200634A>GCA358375180PABPC4Lc.386T>C (p.Val129Ala)
c.560T>C (p.Val187Ala)
n.925T>C
n.920T>C
4g.134200634A>TCA358375181PABPC4Lc.386T>A (p.Val129Glu)
c.560T>A (p.Val187Glu)
n.925T>A
n.920T>A
4g.134200634dupCA2672091052PABPC4Lc.386dup (p.Met130AspfsTer3)
c.560dup (p.Met188AspfsTer3)
n.925dup
n.920dup
 gnomAD v4
4g.134200635C>ACA358375183PABPC4Lc.385G>T (p.Val129Leu)
c.559G>T (p.Val187Leu)
n.924G>T
n.919G>T
 gnomAD v4
4g.134200635C>GCA358375184PABPC4Lc.385G>C (p.Val129Leu)
c.559G>C (p.Val187Leu)
n.924G>C
n.919G>C
4g.134200635C>TCA358375185PABPC4Lc.385G>A (p.Val129Met)
c.559G>A (p.Val187Met)
n.924G>A
n.919G>A
4g.134200636C>ACA358375186PABPC4Lc.384G>T (p.Lys128Asn)
c.558G>T (p.Lys186Asn)
n.923G>T
n.918G>T
4g.134200636C=CA1495814848PABPC4Lc.384G= (p.Lys128=)
c.558G= (p.Lys186=)
n.923G=
n.918G=
4g.134200636C>GCA106325799PABPC4Lc.384G>C (p.Lys128Asn)
c.558G>C (p.Lys186Asn)
n.923G>C
n.918G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200636C>TCA441360998PABPC4Lc.384G>A (p.Lys128=)
c.558G>A (p.Lys186=)
n.923G>A
n.918G>A
 gnomAD v4
4g.134200637T>ACA358375187PABPC4Lc.383A>T (p.Lys128Met)
c.557A>T (p.Lys186Met)
n.922A>T
n.917A>T
4g.134200637T>CCA358375188PABPC4Lc.383A>G (p.Lys128Arg)
c.557A>G (p.Lys186Arg)
n.922A>G
n.917A>G
 dbSNP gnomAD v2 gnomAD v4
4g.134200637T>GCA358375189PABPC4Lc.383A>C (p.Lys128Thr)
c.557A>C (p.Lys186Thr)
n.922A>C
n.917A>C
4g.134200637T=CA1495814850PABPC4Lc.383A= (p.Lys128=)
c.557A= (p.Lys186=)
n.922A=
n.917A=
4g.134200638T>ACA358375190PABPC4Lc.382A>T (p.Lys128Ter)
c.556A>T (p.Lys186Ter)
n.921A>T
n.916A>T
 COSMIC COSMIC
4g.134200638T>CCA358375191PABPC4Lc.382A>G (p.Lys128Glu)
c.556A>G (p.Lys186Glu)
n.921A>G
n.916A>G
 gnomAD v4
4g.134200638T>GCA358375192PABPC4Lc.382A>C (p.Lys128Gln)
c.556A>C (p.Lys186Gln)
n.921A>C
n.916A>C
4g.134200639G>ACA441360999PABPC4Lc.381C>T (p.Ser127=)
c.555C>T (p.Ser185=)
n.920C>T
n.915C>T
4g.134200639G>CCA441361000PABPC4Lc.381C>G (p.Ser127=)
c.555C>G (p.Ser185=)
n.920C>G
n.915C>G
4g.134200639G>TCA441361001PABPC4Lc.381C>A (p.Ser127=)
c.555C>A (p.Ser185=)
n.920C>A
n.915C>A
4g.134200640G>ACA358375195PABPC4Lc.380C>T (p.Ser127Phe)
c.554C>T (p.Ser185Phe)
n.919C>T
n.914C>T
4g.134200640G>CCA358375194PABPC4Lc.380C>G (p.Ser127Cys)
c.554C>G (p.Ser185Cys)
n.919C>G
n.914C>G
4g.134200640G>TCA358375193PABPC4Lc.380C>A (p.Ser127Tyr)
c.554C>A (p.Ser185Tyr)
n.919C>A
n.914C>A
4g.134200641A=CA1495814852PABPC4Lc.379T= (p.Ser127=)
c.553T= (p.Ser185=)
n.918T=
n.913T=
4g.134200641A>CCA358375196PABPC4Lc.379T>G (p.Ser127Ala)
c.553T>G (p.Ser185Ala)
n.918T>G
n.913T>G
4g.134200641A>GCA358375198PABPC4Lc.379T>C (p.Ser127Pro)
c.553T>C (p.Ser185Pro)
n.918T>C
n.913T>C
4g.134200641A>TCA358375197PABPC4Lc.379T>A (p.Ser127Thr)
c.553T>A (p.Ser185Thr)
n.918T>A
n.913T>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200642G>ACA441361002PABPC4Lc.378C>T (p.Ser126=)
c.552C>T (p.Ser184=)
n.917C>T
n.912C>T
4g.134200642G>CCA441361003PABPC4Lc.378C>G (p.Ser126=)
c.552C>G (p.Ser184=)
n.917C>G
n.912C>G
4g.134200642G>TCA441361004PABPC4Lc.378C>A (p.Ser126=)
c.552C>A (p.Ser184=)
n.917C>A
n.912C>A
4g.134200643G>ACA358375199PABPC4Lc.377C>T (p.Ser126Phe)
c.551C>T (p.Ser184Phe)
n.916C>T
n.911C>T
 dbSNP gnomAD v2 COSMIC COSMIC
4g.134200643G>CCA358375201PABPC4Lc.377C>G (p.Ser126Cys)
c.551C>G (p.Ser184Cys)
n.916C>G
n.911C>G
4g.134200643G=CA1495814854PABPC4Lc.377C= (p.Ser126=)
c.551C= (p.Ser184=)
n.916C=
n.911C=
4g.134200643G>TCA358375200PABPC4Lc.377C>A (p.Ser126Tyr)
c.551C>A (p.Ser184Tyr)
n.916C>A
n.911C>A
4g.134200644A>CCA358375202PABPC4Lc.376T>G (p.Ser126Ala)
c.550T>G (p.Ser184Ala)
n.915T>G
n.910T>G
4g.134200644A>GCA358375203PABPC4Lc.376T>C (p.Ser126Pro)
c.550T>C (p.Ser184Pro)
n.915T>C
n.910T>C
4g.134200644A>TCA358375204PABPC4Lc.376T>A (p.Ser126Thr)
c.550T>A (p.Ser184Thr)
n.915T>A
n.910T>A
4g.134200645A>CCA441361007PABPC4Lc.375T>G (p.Leu125=)
c.549T>G (p.Leu183=)
n.914T>G
n.909T>G
4g.134200645A>GCA441361006PABPC4Lc.375T>C (p.Leu125=)
c.549T>C (p.Leu183=)
n.914T>C
n.909T>C
4g.134200645A>TCA441361005PABPC4Lc.375T>A (p.Leu125=)
c.549T>A (p.Leu183=)
n.914T>A
n.909T>A
4g.134200646A>CCA358375205PABPC4Lc.374T>G (p.Leu125Arg)
c.548T>G (p.Leu183Arg)
n.913T>G
n.908T>G
4g.134200646A>GCA358375206PABPC4Lc.374T>C (p.Leu125Pro)
c.548T>C (p.Leu183Pro)
n.913T>C
n.908T>C
4g.134200646A>TCA358375207PABPC4Lc.374T>A (p.Leu125His)
c.548T>A (p.Leu183His)
n.913T>A
n.908T>A
4g.134200647G>ACA358375208PABPC4Lc.373C>T (p.Leu125Phe)
c.547C>T (p.Leu183Phe)
n.912C>T
n.907C>T
4g.134200647G>CCA358375209PABPC4Lc.373C>G (p.Leu125Val)
c.547C>G (p.Leu183Val)
n.912C>G
n.907C>G
 gnomAD v4
4g.134200647G=CA1495814859PABPC4Lc.373C= (p.Leu125=)
c.547C= (p.Leu183=)
n.912C=
n.907C=
4g.134200647G>TCA358375210PABPC4Lc.373C>A (p.Leu125Ile)
c.547C>A (p.Leu183Ile)
n.912C>A
n.907C>A
 dbSNP gnomAD v3 gnomAD v4
4g.134200648G>ACA441361009PABPC4Lc.372C>T (p.Ile124=)
c.546C>T (p.Ile182=)
n.911C>T
n.906C>T
 dbSNP gnomAD v2 gnomAD v4
4g.134200648G>CCA358375211PABPC4Lc.372C>G (p.Ile124Met)
c.546C>G (p.Ile182Met)
n.911C>G
n.906C>G
4g.134200648G=CA1495814860PABPC4Lc.372C= (p.Ile124=)
c.546C= (p.Ile182=)
n.911C=
n.906C=
4g.134200648G>TCA441361008PABPC4Lc.372C>A (p.Ile124=)
c.546C>A (p.Ile182=)
n.911C>A
n.906C>A
4g.134200649A>CCA358375212PABPC4Lc.371T>G (p.Ile124Ser)
c.545T>G (p.Ile182Ser)
n.910T>G
n.905T>G
4g.134200649A>GCA358375213PABPC4Lc.371T>C (p.Ile124Thr)
c.545T>C (p.Ile182Thr)
n.910T>C
n.905T>C
4g.134200649A>TCA358375214PABPC4Lc.371T>A (p.Ile124Asn)
c.545T>A (p.Ile182Asn)
n.910T>A
n.905T>A
4g.134200650T>ACA358375217PABPC4Lc.370A>T (p.Ile124Phe)
c.544A>T (p.Ile182Phe)
n.909A>T
n.904A>T
4g.134200650T>CCA358375215PABPC4Lc.370A>G (p.Ile124Val)
c.544A>G (p.Ile182Val)
n.909A>G
n.904A>G
 gnomAD v4
4g.134200650T>GCA358375216PABPC4Lc.370A>C (p.Ile124Leu)
c.544A>C (p.Ile182Leu)
n.909A>C
n.904A>C
4g.134200651C>ACA358375218PABPC4Lc.369G>T (p.Lys123Asn)
c.543G>T (p.Lys181Asn)
n.908G>T
n.903G>T
4g.134200651C>GCA358375219PABPC4Lc.369G>C (p.Lys123Asn)
c.543G>C (p.Lys181Asn)
n.908G>C
n.903G>C
 gnomAD v4
4g.134200651C>TCA441361010PABPC4Lc.369G>A (p.Lys123=)
c.543G>A (p.Lys181=)
n.908G>A
n.903G>A
4g.134200652T>ACA358375220PABPC4Lc.368A>T (p.Lys123Met)
c.542A>T (p.Lys181Met)
n.907A>T
n.902A>T
4g.134200652T>CCA358375221PABPC4Lc.368A>G (p.Lys123Arg)
c.542A>G (p.Lys181Arg)
n.907A>G
n.902A>G
4g.134200652T>GCA358375222PABPC4Lc.368A>C (p.Lys123Thr)
c.542A>C (p.Lys181Thr)
n.907A>C
n.902A>C
 dbSNP gnomAD v3 gnomAD v4
4g.134200652T=CA1495814862PABPC4Lc.368A= (p.Lys123=)
c.542A= (p.Lys181=)
n.907A=
n.902A=
4g.134200653T>ACA358375223PABPC4Lc.367A>T (p.Lys123Ter)
c.541A>T (p.Lys181Ter)
n.906A>T
n.901A>T
4g.134200653T>CCA358375224PABPC4Lc.367A>G (p.Lys123Glu)
c.541A>G (p.Lys181Glu)
n.906A>G
n.901A>G
4g.134200653T>GCA358375225PABPC4Lc.367A>C (p.Lys123Gln)
c.541A>C (p.Lys181Gln)
n.906A>C
n.901A>C
4g.134200654T>ACA441361011PABPC4Lc.366A>T (p.Gly122=)
c.540A>T (p.Gly180=)
n.905A>T
n.900A>T
4g.134200654T>CCA3081073PABPC4Lc.366A>G (p.Gly122=)
c.540A>G (p.Gly180=)
n.905A>G
n.900A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200654T>GCA441361012PABPC4Lc.366A>C (p.Gly122=)
c.540A>C (p.Gly180=)
n.905A>C
n.900A>C
 dbSNP
4g.134200654T=CA1495814865PABPC4Lc.366A= (p.Gly122=)
c.540A= (p.Gly180=)
n.905A=
n.900A=
4g.134200655C>ACA358375226PABPC4Lc.365G>T (p.Gly122Val)
c.539G>T (p.Gly180Val)
n.904G>T
n.899G>T
4g.134200655C>GCA358375227PABPC4Lc.365G>C (p.Gly122Ala)
c.539G>C (p.Gly180Ala)
n.904G>C
n.899G>C
4g.134200655C>TCA358375228PABPC4Lc.365G>A (p.Gly122Glu)
c.539G>A (p.Gly180Glu)
n.904G>A
n.899G>A
4g.134200656C>ACA358375229PABPC4Lc.364G>T (p.Gly122Ter)
c.538G>T (p.Gly180Ter)
n.903G>T
n.898G>T
4g.134200656C>GCA358375231PABPC4Lc.364G>C (p.Gly122Arg)
c.538G>C (p.Gly180Arg)
n.903G>C
n.898G>C
4g.134200656C>TCA358375230PABPC4Lc.364G>A (p.Gly122Arg)
c.538G>A (p.Gly180Arg)
n.903G>A
n.898G>A
4g.134200657A>CCA358375232PABPC4Lc.363T>G (p.Phe121Leu)
c.537T>G (p.Phe179Leu)
n.902T>G
n.897T>G
4g.134200657A>GCA441361013PABPC4Lc.363T>C (p.Phe121=)
c.537T>C (p.Phe179=)
n.902T>C
n.897T>C
4g.134200657A>TCA358375233PABPC4Lc.363T>A (p.Phe121Leu)
c.537T>A (p.Phe179Leu)
n.902T>A
n.897T>A
4g.134200660delCA2672091053PABPC4Lc.363del (p.Phe121LeufsTer9)
c.537del (p.Phe179LeufsTer9)
n.902del
n.897del
 gnomAD v4
4g.134200658A>CCA358375234PABPC4Lc.362T>G (p.Phe121Cys)
c.536T>G (p.Phe179Cys)
n.901T>G
n.896T>G
4g.134200658A>GCA358375235PABPC4Lc.362T>C (p.Phe121Ser)
c.536T>C (p.Phe179Ser)
n.901T>C
n.896T>C
4g.134200658A>TCA358375236PABPC4Lc.362T>A (p.Phe121Tyr)
c.536T>A (p.Phe179Tyr)
n.901T>A
n.896T>A
4g.134200659A>CCA358375237PABPC4Lc.361T>G (p.Phe121Val)
c.535T>G (p.Phe179Val)
n.900T>G
n.895T>G
4g.134200659A>GCA358375238PABPC4Lc.361T>C (p.Phe121Leu)
c.535T>C (p.Phe179Leu)
n.900T>C
n.895T>C
4g.134200659A>TCA358375239PABPC4Lc.361T>A (p.Phe121Ile)
c.535T>A (p.Phe179Ile)
n.900T>A
n.895T>A
4g.134200660A>CCA441361014PABPC4Lc.360T>G (p.Ala120=)
c.534T>G (p.Ala178=)
n.899T>G
n.894T>G
4g.134200660A>GCA441361015PABPC4Lc.360T>C (p.Ala120=)
c.534T>C (p.Ala178=)
n.899T>C
n.894T>C
4g.134200660A>TCA441361016PABPC4Lc.360T>A (p.Ala120=)
c.534T>A (p.Ala178=)
n.899T>A
n.894T>A
4g.134200661G>ACA358375240PABPC4Lc.359C>T (p.Ala120Val)
c.533C>T (p.Ala178Val)
n.898C>T
n.893C>T
4g.134200661G>CCA358375241PABPC4Lc.359C>G (p.Ala120Gly)
c.533C>G (p.Ala178Gly)
n.898C>G
n.893C>G
4g.134200661G>TCA358375242PABPC4Lc.359C>A (p.Ala120Asp)
c.533C>A (p.Ala178Asp)
n.898C>A
n.893C>A
 gnomAD v4
4g.134200662delCA2672091054PABPC4Lc.358del (p.Ala120LeufsTer10)
c.532del (p.Ala178LeufsTer10)
n.897del
n.892del
 gnomAD v4
4g.134200662C>ACA358375245PABPC4Lc.358G>T (p.Ala120Ser)
c.532G>T (p.Ala178Ser)
n.897G>T
n.892G>T
4g.134200662C>GCA358375243PABPC4Lc.358G>C (p.Ala120Pro)
c.532G>C (p.Ala178Pro)
n.897G>C
n.892G>C
4g.134200662C>TCA358375244PABPC4Lc.358G>A (p.Ala120Thr)
c.532G>A (p.Ala178Thr)
n.897G>A
n.892G>A
4g.134200663T>ACA441361017PABPC4Lc.357A>T (p.Ser119=)
c.531A>T (p.Ser177=)
n.896A>T
n.891A>T
4g.134200663T>CCA441361018PABPC4Lc.357A>G (p.Ser119=)
c.531A>G (p.Ser177=)
n.896A>G
n.891A>G
4g.134200663T>GCA441361019PABPC4Lc.357A>C (p.Ser119=)
c.531A>C (p.Ser177=)
n.896A>C
n.891A>C
 dbSNP gnomAD v2 gnomAD v4
4g.134200663T=CA1495814868PABPC4Lc.357A= (p.Ser119=)
c.531A= (p.Ser177=)
n.896A=
n.891A=
4g.134200664G>ACA358375246PABPC4Lc.356C>T (p.Ser119Leu)
c.530C>T (p.Ser177Leu)
n.895C>T
n.890C>T
4g.134200664G>CCA358375247PABPC4Lc.356C>G (p.Ser119Ter)
c.530C>G (p.Ser177Ter)
n.895C>G
n.890C>G
4g.134200664G=CA1495814872PABPC4Lc.356C= (p.Ser119=)
c.530C= (p.Ser177=)
n.895C=
n.890C=
4g.134200664G>TCA358375248PABPC4Lc.356C>A (p.Ser119Ter)
c.530C>A (p.Ser177Ter)
n.895C>A
n.890C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.134200665A>CCA358375249PABPC4Lc.355T>G (p.Ser119Ala)
c.529T>G (p.Ser177Ala)
n.894T>G
n.889T>G
4g.134200665A>GCA358375250PABPC4Lc.355T>C (p.Ser119Pro)
c.529T>C (p.Ser177Pro)
n.894T>C
n.889T>C
 gnomAD v4
4g.134200665A>TCA358375251PABPC4Lc.355T>A (p.Ser119Thr)
c.529T>A (p.Ser177Thr)
n.894T>A
n.889T>A
4g.134200669delCA2604810259PABPC4Lc.355del (p.Ser119GlnfsTer11)
c.529del (p.Ser177GlnfsTer11)
n.894del
n.889del
 dbSNP gnomAD v3 gnomAD v4
4g.134200666A>CCA358375252PABPC4Lc.354T>G (p.Phe118Leu)
c.528T>G (p.Phe176Leu)
n.893T>G
n.888T>G
4g.134200666A>GCA441361020PABPC4Lc.354T>C (p.Phe118=)
c.528T>C (p.Phe176=)
n.893T>C
n.888T>C
4g.134200666A>TCA358375253PABPC4Lc.354T>A (p.Phe118Leu)
c.528T>A (p.Phe176Leu)
n.893T>A
n.888T>A
4g.134200667A>CCA358375254PABPC4Lc.353T>G (p.Phe118Cys)
c.527T>G (p.Phe176Cys)
n.892T>G
n.887T>G
4g.134200667A>GCA358375255PABPC4Lc.353T>C (p.Phe118Ser)
c.527T>C (p.Phe176Ser)
n.892T>C
n.887T>C
4g.134200667A>TCA358375256PABPC4Lc.353T>A (p.Phe118Tyr)
c.527T>A (p.Phe176Tyr)
n.892T>A
n.887T>A
4g.134200668A>CCA358375258PABPC4Lc.352T>G (p.Phe118Val)
c.526T>G (p.Phe176Val)
n.891T>G
n.886T>G
4g.134200668A>GCA358375259PABPC4Lc.352T>C (p.Phe118Leu)
c.526T>C (p.Phe176Leu)
n.891T>C
n.886T>C
4g.134200668A>TCA358375257PABPC4Lc.352T>A (p.Phe118Ile)
c.526T>A (p.Phe176Ile)
n.891T>A
n.886T>A
4g.134200669A=CA1495814876PABPC4Lc.351T= (p.His117=)
c.525T= (p.His175=)
n.890T=
n.885T=
4g.134200669A>CCA358375261PABPC4Lc.351T>G (p.His117Gln)
c.525T>G (p.His175Gln)
n.890T>G
n.885T>G
4g.134200669A>GCA106325802PABPC4Lc.351T>C (p.His117=)
c.525T>C (p.His175=)
n.890T>C
n.885T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200669A>TCA358375260PABPC4Lc.351T>A (p.His117Gln)
c.525T>A (p.His175Gln)
n.890T>A
n.885T>A
4g.134200670T>ACA358375262PABPC4Lc.350A>T (p.His117Leu)
c.524A>T (p.His175Leu)
n.889A>T
n.884A>T
4g.134200670T>CCA358375263PABPC4Lc.350A>G (p.His117Arg)
c.524A>G (p.His175Arg)
n.889A>G
n.884A>G
 gnomAD v4
4g.134200670T>GCA358375264PABPC4Lc.350A>C (p.His117Pro)
c.524A>C (p.His175Pro)
n.889A>C
n.884A>C
4g.134200671G>ACA358375265PABPC4Lc.349C>T (p.His117Tyr)
c.523C>T (p.His175Tyr)
n.888C>T
n.883C>T
 dbSNP gnomAD v3 gnomAD v4
4g.134200671G>CCA358375266PABPC4Lc.349C>G (p.His117Asp)
c.523C>G (p.His175Asp)
n.888C>G
n.883C>G
4g.134200671G=CA1495814879PABPC4Lc.349C= (p.His117=)
c.523C= (p.His175=)
n.888C=
n.883C=
4g.134200671G>TCA358375267PABPC4Lc.349C>A (p.His117Asn)
c.523C>A (p.His175Asn)
n.888C>A
n.883C>A
 gnomAD v4
4g.134200672T>ACA358375268PABPC4Lc.348A>T (p.Glu116Asp)
c.522A>T (p.Glu174Asp)
n.887A>T
n.882A>T
4g.134200672T>CCA441361021PABPC4Lc.348A>G (p.Glu116=)
c.522A>G (p.Glu174=)
n.887A>G
n.882A>G
4g.134200672T>GCA358375269PABPC4Lc.348A>C (p.Glu116Asp)
c.522A>C (p.Glu174Asp)
n.887A>C
n.882A>C
4g.134200673T>ACA358375270PABPC4Lc.347A>T (p.Glu116Val)
c.521A>T (p.Glu174Val)
n.886A>T
n.881A>T
4g.134200673T>CCA358375271PABPC4Lc.347A>G (p.Glu116Gly)
c.521A>G (p.Glu174Gly)
n.886A>G
n.881A>G
4g.134200673T>GCA358375272PABPC4Lc.347A>C (p.Glu116Ala)
c.521A>C (p.Glu174Ala)
n.886A>C
n.881A>C
4g.134200674C>ACA358375275PABPC4Lc.346G>T (p.Glu116Ter)
c.520G>T (p.Glu174Ter)
n.885G>T
n.880G>T
4g.134200674C=CA1495814882PABPC4Lc.346G= (p.Glu116=)
c.520G= (p.Glu174=)
n.885G=
n.880G=
4g.134200674C>GCA358375273PABPC4Lc.346G>C (p.Glu116Gln)
c.520G>C (p.Glu174Gln)
n.885G>C
n.880G>C
4g.134200674C>TCA358375274PABPC4Lc.346G>A (p.Glu116Lys)
c.520G>A (p.Glu174Lys)
n.885G>A
n.880G>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200675A=CA1495814884PABPC4Lc.345T= (p.Tyr115=)
c.519T= (p.Tyr173=)
n.884T=
n.879T=
4g.134200675A>CCA358375276PABPC4Lc.345T>G (p.Tyr115Ter)
c.519T>G (p.Tyr173Ter)
n.884T>G
n.879T>G
4g.134200675A>GCA441361022PABPC4Lc.345T>C (p.Tyr115=)
c.519T>C (p.Tyr173=)
n.884T>C
n.879T>C
 dbSNP
4g.134200675A>TCA358375277PABPC4Lc.345T>A (p.Tyr115Ter)
c.519T>A (p.Tyr173Ter)
n.884T>A
n.879T>A
4g.134200676T>ACA358375278PABPC4Lc.344A>T (p.Tyr115Phe)
c.518A>T (p.Tyr173Phe)
n.883A>T
n.878A>T
4g.134200676T>CCA358375279PABPC4Lc.344A>G (p.Tyr115Cys)
c.518A>G (p.Tyr173Cys)
n.883A>G
n.878A>G
 gnomAD v4
4g.134200676T>GCA358375280PABPC4Lc.344A>C (p.Tyr115Ser)
c.518A>C (p.Tyr173Ser)
n.883A>C
n.878A>C
4g.134200677A>CCA358375281PABPC4Lc.343T>G (p.Tyr115Asp)
c.517T>G (p.Tyr173Asp)
n.882T>G
n.877T>G
 gnomAD v4
4g.134200677A>GCA358375282PABPC4Lc.343T>C (p.Tyr115His)
c.517T>C (p.Tyr173His)
n.882T>C
n.877T>C
4g.134200677A>TCA358375283PABPC4Lc.343T>A (p.Tyr115Asn)
c.517T>A (p.Tyr173Asn)
n.882T>A
n.877T>A
4g.134200678A>CCA441361025PABPC4Lc.342T>G (p.Leu114=)
c.516T>G (p.Leu172=)
n.881T>G
n.876T>G
4g.134200678A>GCA441361024PABPC4Lc.342T>C (p.Leu114=)
c.516T>C (p.Leu172=)
n.881T>C
n.876T>C
 gnomAD v4
4g.134200678A>TCA441361023PABPC4Lc.342T>A (p.Leu114=)
c.516T>A (p.Leu172=)
n.881T>A
n.876T>A
4g.134200679A>CCA358375284PABPC4Lc.341T>G (p.Leu114Arg)
c.515T>G (p.Leu172Arg)
n.880T>G
n.875T>G
4g.134200679A>GCA358375285PABPC4Lc.341T>C (p.Leu114Pro)
c.515T>C (p.Leu172Pro)
n.880T>C
n.875T>C
4g.134200679A>TCA358375286PABPC4Lc.341T>A (p.Leu114His)
c.515T>A (p.Leu172His)
n.880T>A
n.875T>A
4g.134200680G>ACA358375288PABPC4Lc.340C>T (p.Leu114Phe)
c.514C>T (p.Leu172Phe)
n.879C>T
n.874C>T
4g.134200680G>CCA358375289PABPC4Lc.340C>G (p.Leu114Val)
c.514C>G (p.Leu172Val)
n.879C>G
n.874C>G
 gnomAD v4
4g.134200680G>TCA358375287PABPC4Lc.340C>A (p.Leu114Ile)
c.514C>A (p.Leu172Ile)
n.879C>A
n.874C>A
4g.134200681G>ACA441361026PABPC4Lc.339C>T (p.Thr113=)
c.513C>T (p.Thr171=)
n.878C>T
n.873C>T
 gnomAD v4
4g.134200681G>CCA106325804PABPC4Lc.339C>G (p.Thr113=)
c.513C>G (p.Thr171=)
n.878C>G
n.873C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200681G=CA1495814887PABPC4Lc.339C= (p.Thr113=)
c.513C= (p.Thr171=)
n.878C=
n.873C=
4g.134200681G>TCA106325806PABPC4Lc.339C>A (p.Thr113=)
c.513C>A (p.Thr171=)
n.878C>A
n.873C>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200682G>ACA358375290PABPC4Lc.338C>T (p.Thr113Ile)
c.512C>T (p.Thr171Ile)
n.877C>T
n.872C>T
 gnomAD v4
4g.134200682G>CCA358375291PABPC4Lc.338C>G (p.Thr113Ser)
c.512C>G (p.Thr171Ser)
n.877C>G
n.872C>G
4g.134200682G>TCA358375292PABPC4Lc.338C>A (p.Thr113Asn)
c.512C>A (p.Thr171Asn)
n.877C>A
n.872C>A
4g.134200683T>ACA358375293PABPC4Lc.337A>T (p.Thr113Ser)
c.511A>T (p.Thr171Ser)
n.876A>T
n.871A>T
 gnomAD v4
4g.134200683T>CCA358375294PABPC4Lc.337A>G (p.Thr113Ala)
c.511A>G (p.Thr171Ala)
n.876A>G
n.871A>G
4g.134200683T>GCA358375295PABPC4Lc.337A>C (p.Thr113Pro)
c.511A>C (p.Thr171Pro)
n.876A>C
n.871A>C
4g.134200686dupCA645514504PABPC4Lc.337dup (p.Thr113AsnfsTer4)
c.511dup (p.Thr171AsnfsTer4)
n.876dup
n.871dup
 COSMIC COSMIC
4g.134200684T>ACA358375296PABPC4Lc.336A>T (p.Lys112Asn)
c.510A>T (p.Lys170Asn)
n.875A>T
n.870A>T
4g.134200684T>CCA441361027PABPC4Lc.336A>G (p.Lys112=)
c.510A>G (p.Lys170=)
n.875A>G
n.870A>G
4g.134200684T>GCA358375297PABPC4Lc.336A>C (p.Lys112Asn)
c.510A>C (p.Lys170Asn)
n.875A>C
n.870A>C
4g.134200685T>ACA358375298PABPC4Lc.335A>T (p.Lys112Ile)
c.509A>T (p.Lys170Ile)
n.874A>T
n.869A>T
4g.134200685T>CCA358375299PABPC4Lc.335A>G (p.Lys112Arg)
c.509A>G (p.Lys170Arg)
n.874A>G
n.869A>G
 gnomAD v4
4g.134200685T>GCA358375300PABPC4Lc.335A>C (p.Lys112Thr)
c.509A>C (p.Lys170Thr)
n.874A>C
n.869A>C
4g.134200686T>ACA358375302PABPC4Lc.334A>T (p.Lys112Ter)
c.508A>T (p.Lys170Ter)
n.873A>T
n.868A>T
4g.134200686T>CCA358375303PABPC4Lc.334A>G (p.Lys112Glu)
c.508A>G (p.Lys170Glu)
n.873A>G
n.868A>G
4g.134200686T>GCA358375301PABPC4Lc.334A>C (p.Lys112Gln)
c.508A>C (p.Lys170Gln)
n.873A>C
n.868A>C
4g.134200687G>ACA106325808PABPC4Lc.333C>T (p.Asn111=)
c.507C>T (p.Asn169=)
n.872C>T
n.867C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200687G>CCA358375304PABPC4Lc.333C>G (p.Asn111Lys)
c.507C>G (p.Asn169Lys)
n.872C>G
n.867C>G
4g.134200687G=CA1495814890PABPC4Lc.333C= (p.Asn111=)
c.507C= (p.Asn169=)
n.872C=
n.867C=
4g.134200687G>TCA358375305PABPC4Lc.333C>A (p.Asn111Lys)
c.507C>A (p.Asn169Lys)
n.872C>A
n.867C>A
4g.134200688T>ACA358375306PABPC4Lc.332A>T (p.Asn111Ile)
c.506A>T (p.Asn169Ile)
n.871A>T
n.866A>T
4g.134200688T>CCA358375307PABPC4Lc.332A>G (p.Asn111Ser)
c.506A>G (p.Asn169Ser)
n.871A>G
n.866A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200688T>GCA358375308PABPC4Lc.332A>C (p.Asn111Thr)
c.506A>C (p.Asn169Thr)
n.871A>C
n.866A>C
4g.134200688T=CA1495814895PABPC4Lc.332A= (p.Asn111=)
c.506A= (p.Asn169=)
n.871A=
n.866A=
4g.134200689T>ACA358375311PABPC4Lc.331A>T (p.Asn111Tyr)
c.505A>T (p.Asn169Tyr)
n.870A>T
n.865A>T
4g.134200689T>CCA358375309PABPC4Lc.331A>G (p.Asn111Asp)
c.505A>G (p.Asn169Asp)
n.870A>G
n.865A>G
4g.134200689T>GCA358375310PABPC4Lc.331A>C (p.Asn111His)
c.505A>C (p.Asn169His)
n.870A>C
n.865A>C
4g.134200690A>CCA358375312PABPC4Lc.330T>G (p.Asp110Glu)
c.504T>G (p.Asp168Glu)
n.869T>G
n.864T>G
4g.134200690A>GCA441361028PABPC4Lc.330T>C (p.Asp110=)
c.504T>C (p.Asp168=)
n.869T>C
n.864T>C
4g.134200690A>TCA358375313PABPC4Lc.330T>A (p.Asp110Glu)
c.504T>A (p.Asp168Glu)
n.869T>A
n.864T>A
4g.134200691T>ACA358375314PABPC4Lc.329A>T (p.Asp110Val)
c.503A>T (p.Asp168Val)
n.868A>T
n.863A>T
4g.134200691T>CCA358375315PABPC4Lc.329A>G (p.Asp110Gly)
c.503A>G (p.Asp168Gly)
n.868A>G
n.863A>G
4g.134200691T>GCA358375316PABPC4Lc.329A>C (p.Asp110Ala)
c.503A>C (p.Asp168Ala)
n.868A>C
n.863A>C
4g.134200692C>ACA3081074PABPC4Lc.328G>T (p.Asp110Tyr)
c.502G>T (p.Asp168Tyr)
n.867G>T
n.862G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.134200692C=CA1495814899PABPC4Lc.328G= (p.Asp110=)
c.502G= (p.Asp168=)
n.867G=
n.862G=
4g.134200692C>GCA358375318PABPC4Lc.328G>C (p.Asp110His)
c.502G>C (p.Asp168His)
n.867G>C
n.862G>C
 gnomAD v4
4g.134200692C>TCA358375317PABPC4Lc.328G>A (p.Asp110Asn)
c.502G>A (p.Asp168Asn)
n.867G>A
n.862G>A
 dbSNP gnomAD v4
4g.134200693G>ACA441361029PABPC4Lc.327C>T (p.Ile109=)
c.501C>T (p.Ile167=)
n.866C>T
n.861C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200693G>CCA358375319PABPC4Lc.327C>G (p.Ile109Met)
c.501C>G (p.Ile167Met)
n.866C>G
n.861C>G
 gnomAD v4
4g.134200693G=CA1495814906PABPC4Lc.327C= (p.Ile109=)
c.501C= (p.Ile167=)
n.866C=
n.861C=
4g.134200693G>TCA441361030PABPC4Lc.327C>A (p.Ile109=)
c.501C>A (p.Ile167=)
n.866C>A
n.861C>A
 dbSNP gnomAD v4
4g.134200694A>CCA358375322PABPC4Lc.326T>G (p.Ile109Ser)
c.500T>G (p.Ile167Ser)
n.865T>G
n.860T>G
4g.134200694A>GCA358375320PABPC4Lc.326T>C (p.Ile109Thr)
c.500T>C (p.Ile167Thr)
n.865T>C
n.860T>C
4g.134200694A>TCA358375321PABPC4Lc.326T>A (p.Ile109Asn)
c.500T>A (p.Ile167Asn)
n.865T>A
n.860T>A
4g.134200695T>ACA358375323PABPC4Lc.325A>T (p.Ile109Phe)
c.499A>T (p.Ile167Phe)
n.864A>T
n.859A>T
4g.134200695T>CCA106325811PABPC4Lc.325A>G (p.Ile109Val)
c.499A>G (p.Ile167Val)
n.864A>G
n.859A>G
 dbSNP gnomAD v2 gnomAD v4
4g.134200695T>GCA358375324PABPC4Lc.325A>C (p.Ile109Leu)
c.499A>C (p.Ile167Leu)
n.864A>C
n.859A>C
4g.134200695T=CA1495814912PABPC4Lc.325A= (p.Ile109=)
c.499A= (p.Ile167=)
n.864A=
n.859A=
4g.134200696A>CCA441362009PABPC4Lc.324T>G (p.Ser108=)
c.498T>G (p.Ser166=)
n.863T>G
n.858T>G
4g.134200696A>GCA441362010PABPC4Lc.324T>C (p.Ser108=)
c.498T>C (p.Ser166=)
n.863T>C
n.858T>C
4g.134200696A>TCA441362011PABPC4Lc.324T>A (p.Ser108=)
c.498T>A (p.Ser166=)
n.863T>A
n.858T>A
4g.134200697G>ACA358375325PABPC4Lc.323C>T (p.Ser108Phe)
c.497C>T (p.Ser166Phe)
n.862C>T
n.857C>T
 dbSNP gnomAD v3 gnomAD v4
4g.134200697G>CCA358375326PABPC4Lc.323C>G (p.Ser108Cys)
c.497C>G (p.Ser166Cys)
n.862C>G
n.857C>G
4g.134200697G=CA1495814916PABPC4Lc.323C= (p.Ser108=)
c.497C= (p.Ser166=)
n.862C=
n.857C=
4g.134200697G>TCA358375327PABPC4Lc.323C>A (p.Ser108Tyr)
c.497C>A (p.Ser166Tyr)
n.862C>A
n.857C>A
4g.134200698A>CCA358375328PABPC4Lc.322T>G (p.Ser108Ala)
c.496T>G (p.Ser166Ala)
n.861T>G
n.856T>G
4g.134200698A>GCA358375329PABPC4Lc.322T>C (p.Ser108Pro)
c.496T>C (p.Ser166Pro)
n.861T>C
n.856T>C
4g.134200698A>TCA358375330PABPC4Lc.322T>A (p.Ser108Thr)
c.496T>A (p.Ser166Thr)
n.861T>A
n.856T>A
4g.134200699T>ACA358375331PABPC4Lc.321A>T (p.Lys107Asn)
c.495A>T (p.Lys165Asn)
n.860A>T
n.855A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200699T>CCA441362013PABPC4Lc.321A>G (p.Lys107=)
c.495A>G (p.Lys165=)
n.860A>G
n.855A>G
4g.134200699T>GCA358375332PABPC4Lc.321A>C (p.Lys107Asn)
c.495A>C (p.Lys165Asn)
n.860A>C
n.855A>C
 gnomAD v4
4g.134200699T=CA1495814920PABPC4Lc.321A= (p.Lys107=)
c.495A= (p.Lys165=)
n.860A=
n.855A=
4g.134200700T>ACA358375333PABPC4Lc.320A>T (p.Lys107Ile)
c.494A>T (p.Lys165Ile)
n.859A>T
n.854A>T
4g.134200700T>CCA358375335PABPC4Lc.320A>G (p.Lys107Arg)
c.494A>G (p.Lys165Arg)
n.859A>G
n.854A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.134200700T>GCA358375334PABPC4Lc.320A>C (p.Lys107Thr)
c.494A>C (p.Lys165Thr)
n.859A>C
n.854A>C
4g.134200700T=CA1495814924PABPC4Lc.320A= (p.Lys107=)
c.494A= (p.Lys165=)
n.859A=
n.854A=
4g.134200701T>ACA358375336PABPC4Lc.319A>T (p.Lys107Ter)
c.493A>T (p.Lys165Ter)
n.858A>T
n.853A>T
4g.134200701T>CCA358375337PABPC4Lc.319A>G (p.Lys107Glu)
c.493A>G (p.Lys165Glu)
n.858A>G
n.853A>G
4g.134200701T>GCA358375338PABPC4Lc.319A>C (p.Lys107Gln)
c.493A>C (p.Lys165Gln)
n.858A>C
n.853A>C
 dbSNP gnomAD v3 gnomAD v4
4g.134200701T=CA1495814928PABPC4Lc.319A= (p.Lys107=)
c.493A= (p.Lys165=)
n.858A=
n.853A=
4g.134200702G>ACA441362014PABPC4Lc.318C>T (p.Asp106=)
c.492C>T (p.Asp164=)
n.857C>T
n.852C>T
4g.134200702G>CCA358375339PABPC4Lc.318C>G (p.Asp106Glu)
c.492C>G (p.Asp164Glu)
n.857C>G
n.852C>G
4g.134200702G>TCA358375340PABPC4Lc.318C>A (p.Asp106Glu)
c.492C>A (p.Asp164Glu)
n.857C>A
n.852C>A
4g.134200703T>ACA358375341PABPC4Lc.317A>T (p.Asp106Val)
c.491A>T (p.Asp164Val)
n.856A>T
n.851A>T
4g.134200703T>CCA358375342PABPC4Lc.317A>G (p.Asp106Gly)
c.491A>G (p.Asp164Gly)
n.856A>G
n.851A>G
4g.134200703T>GCA358375343PABPC4Lc.317A>C (p.Asp106Ala)
c.491A>C (p.Asp164Ala)
n.856A>C
n.851A>C
4g.134200704C>ACA358375344PABPC4Lc.316G>T (p.Asp106Tyr)
c.490G>T (p.Asp164Tyr)
n.855G>T
n.850G>T
 dbSNP
4g.134200704C=CA1495814929PABPC4Lc.316G= (p.Asp106=)
c.490G= (p.Asp164=)
n.855G=
n.850G=
4g.134200704C>GCA358375345PABPC4Lc.316G>C (p.Asp106His)
c.490G>C (p.Asp164His)
n.855G>C
n.850G>C
4g.134200704C>TCA358375346PABPC4Lc.316G>A (p.Asp106Asn)
c.490G>A (p.Asp164Asn)
n.855G>A
n.850G>A
4g.134200705C>ACA441362015PABPC4Lc.315G>T (p.Leu105=)
c.489G>T (p.Leu163=)
n.854G>T
n.849G>T
4g.134200705C>GCA441362016PABPC4Lc.315G>C (p.Leu105=)
c.489G>C (p.Leu163=)
n.854G>C
n.849G>C
4g.134200705C>TCA441362017PABPC4Lc.315G>A (p.Leu105=)
c.489G>A (p.Leu163=)
n.854G>A
n.849G>A
4g.134200706A>CCA358375349PABPC4Lc.314T>G (p.Leu105Arg)
c.488T>G (p.Leu163Arg)
n.853T>G
n.848T>G
 gnomAD v4
4g.134200706A>GCA358375348PABPC4Lc.314T>C (p.Leu105Pro)
c.488T>C (p.Leu163Pro)
n.853T>C
n.848T>C
4g.134200706A>TCA358375347PABPC4Lc.314T>A (p.Leu105Gln)
c.488T>A (p.Leu163Gln)
n.853T>A
n.848T>A
4g.134200707G>ACA441362018PABPC4Lc.313C>T (p.Leu105=)
c.487C>T (p.Leu163=)
n.852C>T
n.847C>T
4g.134200707G>CCA358375351PABPC4Lc.313C>G (p.Leu105Val)
c.487C>G (p.Leu163Val)
n.852C>G
n.847C>G
4g.134200707G=CA1495814932PABPC4Lc.313C= (p.Leu105=)
c.487C= (p.Leu163=)
n.852C=
n.847C=
4g.134200707G>TCA358375350PABPC4Lc.313C>A (p.Leu105Met)
c.487C>A (p.Leu163Met)
n.852C>A
n.847C>A
 dbSNP gnomAD v2 gnomAD v4
4g.134200708A>CCA358375352PABPC4Lc.312T>G (p.Asn104Lys)
c.486T>G (p.Asn162Lys)
n.851T>G
n.846T>G
4g.134200708A>GCA441362019PABPC4Lc.312T>C (p.Asn104=)
c.486T>C (p.Asn162=)
n.851T>C
n.846T>C
4g.134200708A>TCA358375353PABPC4Lc.312T>A (p.Asn104Lys)
c.486T>A (p.Asn162Lys)
n.851T>A
n.846T>A
4g.134200710_134200711insTGTCCGTATTCA2763628674PABPC4Lc.312_313insACGGACAAAT (p.Leu105ThrfsTer10)
c.486_487insACGGACAAAT (p.Leu163ThrfsTer10)
n.851_852insACGGACAAAT
n.846_847insACGGACAAAT
4g.134200709T>ACA358375354PABPC4Lc.311A>T (p.Asn104Ile)
c.485A>T (p.Asn162Ile)
n.850A>T
n.845A>T
4g.134200709T>CCA358375355PABPC4Lc.311A>G (p.Asn104Ser)
c.485A>G (p.Asn162Ser)
n.850A>G
n.845A>G
4g.134200709T>GCA358375356PABPC4Lc.311A>C (p.Asn104Thr)
c.485A>C (p.Asn162Thr)
n.850A>C
n.845A>C
4g.134200710T>ACA358375359PABPC4Lc.310A>T (p.Asn104Tyr)
c.484A>T (p.Asn162Tyr)
n.849A>T
n.844A>T
4g.134200710T>CCA358375357PABPC4Lc.310A>G (p.Asn104Asp)
c.484A>G (p.Asn162Asp)
n.849A>G
n.844A>G
4g.134200710T>GCA358375358PABPC4Lc.310A>C (p.Asn104His)
c.484A>C (p.Asn162His)
n.849A>C
n.844A>C
4g.134200711C>ACA358375360PABPC4Lc.309G>T (p.Lys103Asn)
c.483G>T (p.Lys161Asn)
n.848G>T
n.843G>T
 COSMIC COSMIC
4g.134200711C=CA1495814935PABPC4Lc.309G= (p.Lys103=)
c.483G= (p.Lys161=)
n.848G=
n.843G=
4g.134200711C>GCA358375361PABPC4Lc.309G>C (p.Lys103Asn)
c.483G>C (p.Lys161Asn)
n.848G>C
n.843G>C
 dbSNP gnomAD v4
4g.134200711C>TCA441362020PABPC4Lc.309G>A (p.Lys103=)
c.483G>A (p.Lys161=)
n.848G>A
n.843G>A
4g.134200712T>ACA106325813PABPC4Lc.308A>T (p.Lys103Met)
c.482A>T (p.Lys161Met)
n.847A>T
n.842A>T
 dbSNP
4g.134200712T>CCA358375362PABPC4Lc.308A>G (p.Lys103Arg)
c.482A>G (p.Lys161Arg)
n.847A>G
n.842A>G
4g.134200712T>GCA358375363PABPC4Lc.308A>C (p.Lys103Thr)
c.482A>C (p.Lys161Thr)
n.847A>C
n.842A>C
4g.134200712T=CA1495814938PABPC4Lc.308A= (p.Lys103=)
c.482A= (p.Lys161=)
n.847A=
n.842A=
4g.134200713T>ACA358375364PABPC4Lc.307A>T (p.Lys103Ter)
c.481A>T (p.Lys161Ter)
n.846A>T
n.841A>T
4g.134200713T>CCA358375366PABPC4Lc.307A>G (p.Lys103Glu)
c.481A>G (p.Lys161Glu)
n.846A>G
n.841A>G
4g.134200713T>GCA358375365PABPC4Lc.307A>C (p.Lys103Gln)
c.481A>C (p.Lys161Gln)
n.846A>C
n.841A>C
4g.134200714G>ACA441362021PABPC4Lc.306C>T (p.Ile102=)
c.480C>T (p.Ile160=)
n.845C>T
n.840C>T
4g.134200714G>CCA358375367PABPC4Lc.306C>G (p.Ile102Met)
c.480C>G (p.Ile160Met)
n.845C>G
n.840C>G
4g.134200714G=CA1495814941PABPC4Lc.306C= (p.Ile102=)
c.480C= (p.Ile160=)
n.845C=
n.840C=
4g.134200714G>TCA441362022PABPC4Lc.306C>A (p.Ile102=)
c.480C>A (p.Ile160=)
n.845C>A
n.840C>A
4g.134200715A>CCA358375368PABPC4Lc.305T>G (p.Ile102Ser)
c.479T>G (p.Ile160Ser)
n.844T>G
n.839T>G
4g.134200715A>GCA358375369PABPC4Lc.305T>C (p.Ile102Thr)
c.479T>C (p.Ile160Thr)
n.844T>C
n.839T>C
4g.134200715A>TCA358375370PABPC4Lc.305T>A (p.Ile102Asn)
c.479T>A (p.Ile160Asn)
n.844T>A
n.839T>A
4g.134200715dupCA555019085PABPC4Lc.305dup (p.Lys103GlnfsTer9)
c.479dup (p.Lys161GlnfsTer9)
n.844dup
n.839dup
 dbSNP gnomAD v2 gnomAD v4
4g.134200716T>ACA358375371PABPC4Lc.304A>T (p.Ile102Phe)
c.478A>T (p.Ile160Phe)
n.843A>T
n.838A>T
4g.134200716T>CCA358375372PABPC4Lc.304A>G (p.Ile102Val)
c.478A>G (p.Ile160Val)
n.843A>G
n.838A>G
 dbSNP gnomAD v2 gnomAD v4
4g.134200716T>GCA358375373PABPC4Lc.304A>C (p.Ile102Leu)
c.478A>C (p.Ile160Leu)
n.843A>C
n.838A>C
4g.134200716T=CA1495814947PABPC4Lc.304A= (p.Ile102=)
c.478A= (p.Ile160=)
n.843A=
n.838A=
4g.134200717G>ACA441362023PABPC4Lc.303C>T (p.Phe101=)
c.477C>T (p.Phe159=)
n.842C>T
n.837C>T
4g.134200717G>CCA358375374PABPC4Lc.303C>G (p.Phe101Leu)
c.477C>G (p.Phe159Leu)
n.842C>G
n.837C>G
4g.134200717G>TCA358375375PABPC4Lc.303C>A (p.Phe101Leu)
c.477C>A (p.Phe159Leu)
n.842C>A
n.837C>A

Number of alleles fetched