Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.146339659G>ACA3491078POU4F3c.232G>A (p.Ala78Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.146339659G>CCA3491077POU4F3c.232G>C (p.Ala78Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339659G=CA1589086548POU4F3c.232G= (p.Ala78=)
5g.146339659G>TCA3491076POU4F3c.232G>T (p.Ala78Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339660C>ACA361620286POU4F3c.233C>A (p.Ala78Asp)
5g.146339660C=CA1589086549POU4F3c.233C= (p.Ala78=)
5g.146339660C>GCA361620287POU4F3c.233C>G (p.Ala78Gly)
5g.146339660C>TCA361620288POU4F3c.233C>T (p.Ala78Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339661C>ACA446918678POU4F3c.234C>A (p.Ala78=)
5g.146339661C=CA1589086550POU4F3c.234C= (p.Ala78=)
5g.146339661C>GCA446918679POU4F3c.234C>G (p.Ala78=)
5g.146339661C>TCA3491079POU4F3c.234C>T (p.Ala78=)
dbSNP ExAC gnomAD v2
5g.146339662A=CA1589086551POU4F3c.235A= (p.Thr79=)
5g.146339662A>CCA3491080POU4F3c.235A>C (p.Thr79Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339662A>GCA361620289POU4F3c.235A>G (p.Thr79Ala)
5g.146339662A>TCA361620290POU4F3c.235A>T (p.Thr79Ser)
5g.146339663C>ACA361620291POU4F3c.236C>A (p.Thr79Asn)
5g.146339663C>GCA361620292POU4F3c.236C>G (p.Thr79Ser)
5g.146339663C>TCA361620293POU4F3c.236C>T (p.Thr79Ile)
5g.146339664C>ACA446918680POU4F3c.237C>A (p.Thr79=)
5g.146339664C=CA1589086552POU4F3c.237C= (p.Thr79=)
5g.146339664C>GCA446918681POU4F3c.237C>G (p.Thr79=)
gnomAD v4
5g.146339664C>TCA446918682POU4F3c.237C>T (p.Thr79=)
dbSNP gnomAD v4
5g.146339665T>ACA361620294POU4F3c.238T>A (p.Tyr80Asn)
5g.146339665T>CCA361620295POU4F3c.238T>C (p.Tyr80His)
5g.146339665T>GCA361620296POU4F3c.238T>G (p.Tyr80Asp)
5g.146339666A>CCA361620297POU4F3c.239A>C (p.Tyr80Ser)
5g.146339666A>GCA361620298POU4F3c.239A>G (p.Tyr80Cys)
5g.146339666A>TCA361620299POU4F3c.239A>T (p.Tyr80Phe)
5g.146339667C>ACA361620300POU4F3c.240C>A (p.Tyr80Ter)
5g.146339667C>GCA361620301POU4F3c.240C>G (p.Tyr80Ter)
5g.146339667C>TCA446918683POU4F3c.240C>T (p.Tyr80=)
5g.146339668C>ACA128860562POU4F3c.241C>A (p.His81Asn)
dbSNP
5g.146339668C=CA1589086553POU4F3c.241C= (p.His81=)
5g.146339668C>GCA361620303POU4F3c.241C>G (p.His81Asp)
5g.146339668C>TCA361620302POU4F3c.241C>T (p.His81Tyr)
gnomAD v4
5g.146339669A>CCA361620304POU4F3c.242A>C (p.His81Pro)
5g.146339669A>GCA361620305POU4F3c.242A>G (p.His81Arg)
5g.146339669A>TCA361620306POU4F3c.242A>T (p.His81Leu)
5g.146339670T>ACA361620307POU4F3c.243T>A (p.His81Gln)
5g.146339670T>CCA446918684POU4F3c.243T>C (p.His81=)
5g.146339670T>GCA361620308POU4F3c.243T>G (p.His81Gln)
5g.146339671A>CCA361620309POU4F3c.244A>C (p.Thr82Pro)
5g.146339671A>GCA361620310POU4F3c.244A>G (p.Thr82Ala)
5g.146339671A>TCA361620311POU4F3c.244A>T (p.Thr82Ser)
5g.146339672C>ACA361620312POU4F3c.245C>A (p.Thr82Asn)
dbSNP gnomAD v2 gnomAD v4
5g.146339672C=CA1589086554POU4F3c.245C= (p.Thr82=)
5g.146339672C>GCA361620313POU4F3c.245C>G (p.Thr82Ser)
dbSNP gnomAD v4
5g.146339672C>TCA3491081POU4F3c.245C>T (p.Thr82Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339673C>ACA3491082POU4F3c.246C>A (p.Thr82=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339673C=CA1589086555POU4F3c.246C= (p.Thr82=)
5g.146339673C>GCA446918685POU4F3c.246C>G (p.Thr82=)
5g.146339673C>TCA446918686POU4F3c.246C>T (p.Thr82=)
5g.146339673_146340072delinsGGCA2573139233POU4F3c.246_645delinsGG (p.Met83GlufsTer?)
ClinVar dbSNP
5g.146339674A=CA1589086556POU4F3c.247A= (p.Met83=)
5g.146339674A>CCA361620314POU4F3c.247A>C (p.Met83Leu)
5g.146339674A>GCA361620315POU4F3c.247A>G (p.Met83Val)
dbSNP gnomAD v2 gnomAD v4
5g.146339674A>TCA361620316POU4F3c.247A>T (p.Met83Leu)
gnomAD v4
5g.146339675T>ACA361620317POU4F3c.248T>A (p.Met83Lys)
5g.146339675T>CCA128860569POU4F3c.248T>C (p.Met83Thr)
dbSNP
5g.146339675T>GCA361620318POU4F3c.248T>G (p.Met83Arg)
5g.146339675T=CA1589086557POU4F3c.248T= (p.Met83=)
5g.146339676G>ACA3491083POU4F3c.249G>A (p.Met83Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339676G>CCA361620319POU4F3c.249G>C (p.Met83Ile)
5g.146339676G=CA1589086558POU4F3c.249G= (p.Met83=)
5g.146339676G>TCA361620320POU4F3c.249G>T (p.Met83Ile)
5g.146339677A>CCA361620321POU4F3c.250A>C (p.Ser84Arg)
5g.146339677A>GCA361620322POU4F3c.250A>G (p.Ser84Gly)
5g.146339677A>TCA361620323POU4F3c.250A>T (p.Ser84Cys)
5g.146339678G>ACA361620324POU4F3c.251G>A (p.Ser84Asn)
gnomAD v4
5g.146339678G>CCA361620325POU4F3c.251G>C (p.Ser84Thr)
5g.146339678G>TCA361620326POU4F3c.251G>T (p.Ser84Ile)
gnomAD v4
5g.146339679C>ACA361620327POU4F3c.252C>A (p.Ser84Arg)
dbSNP gnomAD v3 gnomAD v4
5g.146339679C=CA1589086559POU4F3c.252C= (p.Ser84=)
5g.146339679C>GCA361620328POU4F3c.252C>G (p.Ser84Arg)
5g.146339679C>TCA446918688POU4F3c.252C>T (p.Ser84=)
dbSNP gnomAD v4
5g.146339680A=CA1589086560POU4F3c.253A= (p.Ser85=)
5g.146339680A>CCA361620329POU4F3c.253A>C (p.Ser85Arg)
5g.146339680A>GCA361620330POU4F3c.253A>G (p.Ser85Gly)
5g.146339680A>TCA3491084POU4F3c.253A>T (p.Ser85Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339681G>ACA361620331POU4F3c.254G>A (p.Ser85Asn)
COSMIC
5g.146339681G>CCA361620332POU4F3c.254G>C (p.Ser85Thr)
5g.146339681G=CA1589086561POU4F3c.254G= (p.Ser85=)
5g.146339681G>TCA361620333POU4F3c.254G>T (p.Ser85Ile)
dbSNP gnomAD v3 gnomAD v4
5g.146339682C>ACA3491085POU4F3c.255C>A (p.Ser85Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339682C=CA1589086562POU4F3c.255C= (p.Ser85=)
5g.146339682C>GCA361620334POU4F3c.255C>G (p.Ser85Arg)
5g.146339682C>TCA446918689POU4F3c.255C>T (p.Ser85=)
dbSNP
5g.146339683G>ACA361620335POU4F3c.256G>A (p.Val86Met)
gnomAD v4
5g.146339683G>CCA361620336POU4F3c.256G>C (p.Val86Leu)
ClinVar dbSNP gnomAD v4
5g.146339683G=CA1589086563POU4F3c.256G= (p.Val86=)
5g.146339683G>TCA361620337POU4F3c.256G>T (p.Val86Leu)
5g.146339684T>ACA361620338POU4F3c.257T>A (p.Val86Glu)
5g.146339684T>CCA361620339POU4F3c.257T>C (p.Val86Ala)
gnomAD v4
5g.146339684T>GCA361620340POU4F3c.257T>G (p.Val86Gly)
5g.146339685G>ACA446918690POU4F3c.258G>A (p.Val86=)
dbSNP gnomAD v2 gnomAD v4
5g.146339685G>CCA446918691POU4F3c.258G>C (p.Val86=)
5g.146339685G=CA1589086564POU4F3c.258G= (p.Val86=)
5g.146339685G>TCA446918692POU4F3c.258G>T (p.Val86=)
dbSNP
5g.146339686C>ACA361620342POU4F3c.259C>A (p.Pro87Thr)
5g.146339686C=CA1589086565POU4F3c.259C= (p.Pro87=)
5g.146339686C>GCA361620341POU4F3c.259C>G (p.Pro87Ala)
dbSNP gnomAD v2 gnomAD v4
5g.146339686C>TCA3491086POU4F3c.259C>T (p.Pro87Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339687C>ACA361620343POU4F3c.260C>A (p.Pro87His)
5g.146339687C=CA1589086566POU4F3c.260C= (p.Pro87=)
5g.146339687C>GCA361620344POU4F3c.260C>G (p.Pro87Arg)
5g.146339687C>TCA361620345POU4F3c.260C>T (p.Pro87Leu)
dbSNP gnomAD v4
5g.146339688C>ACA446918693POU4F3c.261C>A (p.Pro87=)
5g.146339688C=CA1589086567POU4F3c.261C= (p.Pro87=)
5g.146339688C>GCA446918694POU4F3c.261C>G (p.Pro87=)
5g.146339688C>TCA3491087POU4F3c.261C>T (p.Pro87=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339689T>ACA361620346POU4F3c.262T>A (p.Cys88Ser)
5g.146339689T>CCA361620347POU4F3c.262T>C (p.Cys88Arg)
5g.146339689T>GCA361620348POU4F3c.262T>G (p.Cys88Gly)
5g.146339690G>ACA361620349POU4F3c.263G>A (p.Cys88Tyr)
gnomAD v4
5g.146339690G>CCA361620350POU4F3c.263G>C (p.Cys88Ser)
5g.146339690G>TCA361620351POU4F3c.263G>T (p.Cys88Phe)
5g.146339691C>ACA361620352POU4F3c.264C>A (p.Cys88Ter)
gnomAD v4
5g.146339691C>GCA361620353POU4F3c.264C>G (p.Cys88Trp)
5g.146339691C>TCA446918696POU4F3c.264C>T (p.Cys88=)
gnomAD v4
5g.146339692A=CA1589086568POU4F3c.265A= (p.Thr89=)
5g.146339692A>CCA361620355POU4F3c.265A>C (p.Thr89Pro)
5g.146339692A>GCA361620354POU4F3c.265A>G (p.Thr89Ala)
5g.146339692A>TCA3491088POU4F3c.265A>T (p.Thr89Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339693C>ACA361620357POU4F3c.266C>A (p.Thr89Lys)
gnomAD v4
5g.146339693C=CA1589086569POU4F3c.266C= (p.Thr89=)
5g.146339693C>GCA361620356POU4F3c.266C>G (p.Thr89Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339693C>TCA3491089POU4F3c.266C>T (p.Thr89Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339694G>ACA128860599POU4F3c.267G>A (p.Thr89=)
dbSNP COSMIC
5g.146339694G>CCA446918697POU4F3c.267G>C (p.Thr89=)
5g.146339694G=CA1589086570POU4F3c.267G= (p.Thr89=)
5g.146339694G>TCA446918698POU4F3c.267G>T (p.Thr89=)
gnomAD v4
5g.146339695T>ACA361620360POU4F3c.268T>A (p.Ser90Thr)
5g.146339695T>CCA361620358POU4F3c.268T>C (p.Ser90Pro)
dbSNP gnomAD v4
5g.146339695T>GCA361620359POU4F3c.268T>G (p.Ser90Ala)
5g.146339695T=CA1589086571POU4F3c.268T= (p.Ser90=)
5g.146339696C>ACA361620361POU4F3c.269C>A (p.Ser90Tyr)
5g.146339696C>GCA361620362POU4F3c.269C>G (p.Ser90Cys)
5g.146339696C>TCA361620363POU4F3c.269C>T (p.Ser90Phe)
5g.146339697C>ACA446918701POU4F3c.270C>A (p.Ser90=)
dbSNP gnomAD v2 gnomAD v4
5g.146339697C=CA1589086572POU4F3c.270C= (p.Ser90=)
5g.146339697C>GCA446918700POU4F3c.270C>G (p.Ser90=)
5g.146339697C>TCA446918699POU4F3c.270C>T (p.Ser90=)
5g.146339698A>CCA361620364POU4F3c.271A>C (p.Thr91Pro)
5g.146339698A>GCA361620365POU4F3c.271A>G (p.Thr91Ala)
5g.146339698A>TCA361620366POU4F3c.271A>T (p.Thr91Ser)
5g.146339699C>ACA361620367POU4F3c.272C>A (p.Thr91Asn)
5g.146339699C>GCA361620368POU4F3c.272C>G (p.Thr91Ser)
5g.146339699C>TCA361620369POU4F3c.272C>T (p.Thr91Ile)
5g.146339700T>ACA446918704POU4F3c.273T>A (p.Thr91=)
5g.146339700T>CCA446918706POU4F3c.273T>C (p.Thr91=)
5g.146339700T>GCA446918707POU4F3c.273T>G (p.Thr91=)
gnomAD v4
5g.146339701T>ACA361620372POU4F3c.274T>A (p.Ser92Thr)
5g.146339701T>CCA361620370POU4F3c.274T>C (p.Ser92Pro)
5g.146339701T>GCA361620371POU4F3c.274T>G (p.Ser92Ala)
dbSNP
5g.146339701T=CA1589086573POU4F3c.274T= (p.Ser92=)
5g.146339702C>ACA361620373POU4F3c.275C>A (p.Ser92Ter)
5g.146339702C>GCA361620374POU4F3c.275C>G (p.Ser92Trp)
5g.146339702C>TCA361620375POU4F3c.275C>T (p.Ser92Leu)
gnomAD v4 COSMIC
5g.146339703G>ACA3491090POU4F3c.276G>A (p.Ser92=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339703G>CCA446918713POU4F3c.276G>C (p.Ser92=)
5g.146339703G=CA1589086574POU4F3c.276G= (p.Ser92=)
5g.146339703G>TCA3491091POU4F3c.276G>T (p.Ser92=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339704T>ACA361620376POU4F3c.277T>A (p.Ser93Thr)
5g.146339704T>CCA361620377POU4F3c.277T>C (p.Ser93Pro)
5g.146339704T>GCA361620378POU4F3c.277T>G (p.Ser93Ala)
5g.146339705C>ACA361620379POU4F3c.278C>A (p.Ser93Tyr)
5g.146339705C>GCA361620380POU4F3c.278C>G (p.Ser93Cys)
5g.146339705C>TCA361620381POU4F3c.278C>T (p.Ser93Phe)
COSMIC
5g.146339706C>ACA446918717POU4F3c.279C>A (p.Ser93=)
5g.146339706C>GCA446918718POU4F3c.279C>G (p.Ser93=)
5g.146339706C>TCA446918720POU4F3c.279C>T (p.Ser93=)
5g.146339707A=CA1589086575POU4F3c.280A= (p.Thr94=)
5g.146339707A>CCA361620383POU4F3c.280A>C (p.Thr94Pro)
5g.146339707A>GCA3491092POU4F3c.280A>G (p.Thr94Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339707A>TCA361620382POU4F3c.280A>T (p.Thr94Ser)
5g.146339708C>ACA361620384POU4F3c.281C>A (p.Thr94Asn)
5g.146339708C=CA1589086576POU4F3c.281C= (p.Thr94=)
5g.146339708C>GCA361620385POU4F3c.281C>G (p.Thr94Ser)
5g.146339708C>TCA3491093POU4F3c.281C>T (p.Thr94Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339709delCA2579986342POU4F3c.282del (p.Val95CysfsTer?)
gnomAD v4
5g.146339709C>ACA446918724POU4F3c.282C>A (p.Thr94=)
gnomAD v4
5g.146339709C=CA1589086577POU4F3c.282C= (p.Thr94=)
5g.146339709C>GCA3491094POU4F3c.282C>G (p.Thr94=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339709C>TCA446918726POU4F3c.282C>T (p.Thr94=)
gnomAD v3 gnomAD v4 COSMIC
5g.146339710G>ACA3491095POU4F3c.283G>A (p.Val95Met)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339710G>CCA361620386POU4F3c.283G>C (p.Val95Leu)
5g.146339710G=CA1589086578POU4F3c.283G= (p.Val95=)
5g.146339710G>TCA361620387POU4F3c.283G>T (p.Val95Leu)
gnomAD v4
5g.146339711T>ACA361620388POU4F3c.284T>A (p.Val95Glu)
5g.146339711T>CCA361620389POU4F3c.284T>C (p.Val95Ala)
dbSNP
5g.146339711T>GCA361620390POU4F3c.284T>G (p.Val95Gly)
5g.146339711T=CA1589086579POU4F3c.284T= (p.Val95=)
5g.146339712G>ACA3491096POU4F3c.285G>A (p.Val95=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339712G>CCA446918731POU4F3c.285G>C (p.Val95=)
5g.146339712G=CA1589086580POU4F3c.285G= (p.Val95=)
5g.146339712G>TCA446918732POU4F3c.285G>T (p.Val95=)
5g.146339713C>ACA361620392POU4F3c.286C>A (p.Pro96Thr)
5g.146339713C>GCA361620393POU4F3c.286C>G (p.Pro96Ala)
5g.146339713C>TCA361620391POU4F3c.286C>T (p.Pro96Ser)
gnomAD v4
5g.146339714C>ACA361620394POU4F3c.287C>A (p.Pro96His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339714C=CA1589086581POU4F3c.287C= (p.Pro96=)
5g.146339714C>GCA361620395POU4F3c.287C>G (p.Pro96Arg)
5g.146339714C>TCA361620396POU4F3c.287C>T (p.Pro96Leu)
5g.146339715C>ACA446918733POU4F3c.288C>A (p.Pro96=)
5g.146339715C=CA1589086582POU4F3c.288C= (p.Pro96=)
5g.146339715C>GCA446918734POU4F3c.288C>G (p.Pro96=)
5g.146339715C>TCA128860643POU4F3c.288C>T (p.Pro96=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339716A>CCA361620399POU4F3c.289A>C (p.Ile97Leu)
5g.146339716A>GCA361620398POU4F3c.289A>G (p.Ile97Val)
5g.146339716A>TCA361620397POU4F3c.289A>T (p.Ile97Phe)
5g.146339717T>ACA361620400POU4F3c.290T>A (p.Ile97Asn)
5g.146339717T>CCA361620401POU4F3c.290T>C (p.Ile97Thr)
5g.146339717T>GCA361620402POU4F3c.290T>G (p.Ile97Ser)
5g.146339718C>ACA446918742POU4F3c.291C>A (p.Ile97=)
5g.146339718C>GCA361620403POU4F3c.291C>G (p.Ile97Met)
5g.146339718C>TCA446918739POU4F3c.291C>T (p.Ile97=)
gnomAD v4
5g.146339719T>ACA361620404POU4F3c.292T>A (p.Ser98Thr)
5g.146339719T>CCA361620405POU4F3c.292T>C (p.Ser98Pro)
5g.146339719T>GCA361620406POU4F3c.292T>G (p.Ser98Ala)
5g.146339720C>ACA361620408POU4F3c.293C>A (p.Ser98Tyr)
5g.146339720C=CA1589086583POU4F3c.293C= (p.Ser98=)
5g.146339720C>GCA3491097POU4F3c.293C>G (p.Ser98Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339720C>TCA361620407POU4F3c.293C>T (p.Ser98Phe)
5g.146339721C>ACA446918750POU4F3c.294C>A (p.Ser98=)
5g.146339721C>GCA446918748POU4F3c.294C>G (p.Ser98=)
5g.146339721C>TCA446918747POU4F3c.294C>T (p.Ser98=)
gnomAD v4 COSMIC
5g.146339722C>ACA361620409POU4F3c.295C>A (p.His99Asn)
5g.146339722C=CA1589086584POU4F3c.295C= (p.His99=)
5g.146339722C>GCA361620410POU4F3c.295C>G (p.His99Asp)
5g.146339722C>TCA3491098POU4F3c.295C>T (p.His99Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339722_146339723insCCCAAACACCA2768785501POU4F3c.295_296insCCCAAACAC (p.Ser98_His99insProGlnThr)
5g.146339723A>CCA361620411POU4F3c.296A>C (p.His99Pro)
5g.146339723A>GCA361620412POU4F3c.296A>G (p.His99Arg)
gnomAD v4
5g.146339723A>TCA361620413POU4F3c.296A>T (p.His99Leu)
5g.146339724C>ACA3491100POU4F3c.297C>A (p.His99Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339724C=CA1589086585POU4F3c.297C= (p.His99=)
5g.146339724C>GCA361620414POU4F3c.297C>G (p.His99Gln)
5g.146339724C>TCA3491099POU4F3c.297C>T (p.His99=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339725C>ACA361620415POU4F3c.298C>A (p.Pro100Thr)
5g.146339725C>GCA361620416POU4F3c.298C>G (p.Pro100Ala)
ClinVar
5g.146339725C>TCA361620417POU4F3c.298C>T (p.Pro100Ser)
5g.146339726C>ACA361620418POU4F3c.299C>A (p.Pro100Gln)
5g.146339726C=CA1589086586POU4F3c.299C= (p.Pro100=)
5g.146339726C>GCA361620419POU4F3c.299C>G (p.Pro100Arg)
5g.146339726C>TCA361620420POU4F3c.299C>T (p.Pro100Leu)
dbSNP gnomAD v2 gnomAD v4
5g.146339727_146339728insACACACA2768785502POU4F3c.300_301insACACA (p.Ala101ThrfsTer29)
5g.146339727A>CCA446918769POU4F3c.300A>C (p.Pro100=)
5g.146339727A>GCA446918771POU4F3c.300A>G (p.Pro100=)
5g.146339727A>TCA446918772POU4F3c.300A>T (p.Pro100=)
5g.146339728G>ACA361620421POU4F3c.301G>A (p.Ala101Thr)
dbSNP gnomAD v2 gnomAD v4
5g.146339728G>CCA361620423POU4F3c.301G>C (p.Ala101Pro)
5g.146339728G=CA1589086587POU4F3c.301G= (p.Ala101=)
5g.146339728G>TCA361620422POU4F3c.301G>T (p.Ala101Ser)
dbSNP
5g.146339729C>ACA361620424POU4F3c.302C>A (p.Ala101Asp)
5g.146339729C>GCA361620425POU4F3c.302C>G (p.Ala101Gly)
5g.146339729C>TCA361620426POU4F3c.302C>T (p.Ala101Val)
5g.146339730T>ACA446918776POU4F3c.303T>A (p.Ala101=)
5g.146339730T>CCA446918778POU4F3c.303T>C (p.Ala101=)
5g.146339730T>GCA446918779POU4F3c.303T>G (p.Ala101=)
5g.146339731G>ACA361620427POU4F3c.304G>A (p.Ala102Thr)
gnomAD v4
5g.146339731G>CCA361620428POU4F3c.304G>C (p.Ala102Pro)
5g.146339731G>TCA361620429POU4F3c.304G>T (p.Ala102Ser)
5g.146339732C>ACA361620430POU4F3c.305C>A (p.Ala102Glu)
5g.146339732C>GCA361620431POU4F3c.305C>G (p.Ala102Gly)
5g.146339732C>TCA361620432POU4F3c.305C>T (p.Ala102Val)
5g.146339733G>ACA446918789POU4F3c.306G>A (p.Ala102=)
5g.146339733G>CCA446918791POU4F3c.306G>C (p.Ala102=)
5g.146339733G>TCA446918793POU4F3c.306G>T (p.Ala102=)
5g.146339734C>ACA361620433POU4F3c.307C>A (p.Leu103Ile)
5g.146339734C>GCA361620434POU4F3c.307C>G (p.Leu103Val)
gnomAD v4
5g.146339734C>TCA361620435POU4F3c.307C>T (p.Leu103Phe)
gnomAD v4
5g.146339735T>ACA361620436POU4F3c.308T>A (p.Leu103His)
5g.146339735T>CCA361620438POU4F3c.308T>C (p.Leu103Pro)
5g.146339735T>GCA361620437POU4F3c.308T>G (p.Leu103Arg)
5g.146339736C>ACA3491102POU4F3c.309C>A (p.Leu103=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339736C=CA1589086588POU4F3c.309C= (p.Leu103=)
5g.146339736C>GCA446918798POU4F3c.309C>G (p.Leu103=)
5g.146339736C>TCA3491101POU4F3c.309C>T (p.Leu103=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339737A>CCA361620439POU4F3c.310A>C (p.Thr104Pro)
5g.146339737A>GCA361620440POU4F3c.310A>G (p.Thr104Ala)
5g.146339737A>TCA361620441POU4F3c.310A>T (p.Thr104Ser)
5g.146339738C>ACA361620444POU4F3c.311C>A (p.Thr104Asn)
dbSNP gnomAD v2 gnomAD v4
5g.146339738C=CA1589086589POU4F3c.311C= (p.Thr104=)
5g.146339738C>GCA361620443POU4F3c.311C>G (p.Thr104Ser)
5g.146339738C>TCA361620442POU4F3c.311C>T (p.Thr104Ile)
gnomAD v4
5g.146339739C>ACA446918811POU4F3c.312C>A (p.Thr104=)
5g.146339739C=CA1589086590POU4F3c.312C= (p.Thr104=)
5g.146339739C>GCA446918813POU4F3c.312C>G (p.Thr104=)
dbSNP gnomAD v4
5g.146339739C>TCA446918810POU4F3c.312C>T (p.Thr104=)
5g.146339740T>ACA361620445POU4F3c.313T>A (p.Ser105Thr)
5g.146339740T>CCA361620446POU4F3c.313T>C (p.Ser105Pro)
5g.146339740T>GCA361620447POU4F3c.313T>G (p.Ser105Ala)
5g.146339741C>ACA361620448POU4F3c.314C>A (p.Ser105Ter)
5g.146339741C=CA1589086591POU4F3c.314C= (p.Ser105=)
5g.146339741C>GCA361620449POU4F3c.314C>G (p.Ser105Ter)
5g.146339741C>TCA361620450POU4F3c.314C>T (p.Ser105Leu)
dbSNP gnomAD v2
5g.146339742A>CCA446918822POU4F3c.315A>C (p.Ser105=)
5g.146339742A>GCA446918823POU4F3c.315A>G (p.Ser105=)
5g.146339742A>TCA446918825POU4F3c.315A>T (p.Ser105=)
5g.146339743C>ACA361620451POU4F3c.316C>A (p.His106Asn)
dbSNP gnomAD v2 gnomAD v4
5g.146339743C=CA1589086592POU4F3c.316C= (p.His106=)
5g.146339743C>GCA361620453POU4F3c.316C>G (p.His106Asp)
5g.146339743C>TCA361620452POU4F3c.316C>T (p.His106Tyr)
dbSNP gnomAD v2 gnomAD v4
5g.146339744A>CCA361620454POU4F3c.317A>C (p.His106Pro)
5g.146339744A>GCA361620455POU4F3c.317A>G (p.His106Arg)
5g.146339744A>TCA361620456POU4F3c.317A>T (p.His106Leu)
5g.146339745C>ACA3491103POU4F3c.318C>A (p.His106Gln)
dbSNP ExAC gnomAD v4
5g.146339745C=CA1589086593POU4F3c.318C= (p.His106=)
5g.146339745C>GCA361620457POU4F3c.318C>G (p.His106Gln)
gnomAD v4
5g.146339745C>TCA446918832POU4F3c.318C>T (p.His106=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339746C>ACA361620458POU4F3c.319C>A (p.Pro107Thr)
5g.146339746C>GCA361620459POU4F3c.319C>G (p.Pro107Ala)
5g.146339746C>TCA361620460POU4F3c.319C>T (p.Pro107Ser)
gnomAD v4
5g.146339747C>ACA361620461POU4F3c.320C>A (p.Pro107His)
5g.146339747C>GCA361620462POU4F3c.320C>G (p.Pro107Arg)
5g.146339747C>TCA361620463POU4F3c.320C>T (p.Pro107Leu)
gnomAD v4
5g.146339748T>ACA446918839POU4F3c.321T>A (p.Pro107=)
5g.146339748T>CCA446918841POU4F3c.321T>C (p.Pro107=)
5g.146339748T>GCA446918842POU4F3c.321T>G (p.Pro107=)
5g.146339749C>ACA361620465POU4F3c.322C>A (p.His108Asn)
5g.146339749C>GCA361620466POU4F3c.322C>G (p.His108Asp)
5g.146339749C>TCA361620464POU4F3c.322C>T (p.His108Tyr)
gnomAD v4
5g.146339750A>CCA361620467POU4F3c.323A>C (p.His108Pro)
5g.146339750A>GCA361620469POU4F3c.323A>G (p.His108Arg)
5g.146339750A>TCA361620468POU4F3c.323A>T (p.His108Leu)
5g.146339751C>ACA361620470POU4F3c.324C>A (p.His108Gln)
5g.146339751C>GCA361620471POU4F3c.324C>G (p.His108Gln)
gnomAD v4
5g.146339751C>TCA446918849POU4F3c.324C>T (p.His108=)
5g.146339752C>ACA361620472POU4F3c.325C>A (p.His109Asn)
gnomAD v4
5g.146339752C=CA1589086594POU4F3c.325C= (p.His109=)
5g.146339752C>GCA361620473POU4F3c.325C>G (p.His109Asp)
5g.146339752C>TCA3491104POU4F3c.325C>T (p.His109Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339753A>CCA361620474POU4F3c.326A>C (p.His109Pro)
5g.146339753A>GCA361620475POU4F3c.326A>G (p.His109Arg)
5g.146339753A>TCA361620476POU4F3c.326A>T (p.His109Leu)
5g.146339754C>ACA361620477POU4F3c.327C>A (p.His109Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339754C=CA1589086595POU4F3c.327C= (p.His109=)
5g.146339754C>GCA361620478POU4F3c.327C>G (p.His109Gln)
5g.146339754C>TCA446918858POU4F3c.327C>T (p.His109=)
5g.146339755G>ACA361620479POU4F3c.328G>A (p.Ala110Thr)
dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.146339755G>CCA361620480POU4F3c.328G>C (p.Ala110Pro)
gnomAD v4
5g.146339755G=CA1589086596POU4F3c.328G= (p.Ala110=)
5g.146339755G>TCA361620481POU4F3c.328G>T (p.Ala110Ser)
5g.146339756C>ACA361620484POU4F3c.329C>A (p.Ala110Asp)
5g.146339756C>GCA361620483POU4F3c.329C>G (p.Ala110Gly)
5g.146339756C>TCA361620482POU4F3c.329C>T (p.Ala110Val)
5g.146339757C>ACA446918862POU4F3c.330C>A (p.Ala110=)
5g.146339757C=CA1589086597POU4F3c.330C= (p.Ala110=)
5g.146339757C>GCA446918863POU4F3c.330C>G (p.Ala110=)
5g.146339757C>TCA3491105POU4F3c.330C>T (p.Ala110=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339758G>ACA361620485POU4F3c.331G>A (p.Val111Met)
gnomAD v4 COSMIC
5g.146339758G>CCA361620486POU4F3c.331G>C (p.Val111Leu)
5g.146339758G>TCA361620487POU4F3c.331G>T (p.Val111Leu)
gnomAD v4
5g.146339759T>ACA361620488POU4F3c.332T>A (p.Val111Glu)
5g.146339759T>CCA361620489POU4F3c.332T>C (p.Val111Ala)
5g.146339759T>GCA361620490POU4F3c.332T>G (p.Val111Gly)

Number of alleles fetched