Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.146339581A>CCA361620128POU4F3c.154A>C (p.Ser52Arg)
5g.146339581A>GCA361620129POU4F3c.154A>G (p.Ser52Gly)
5g.146339581A>TCA361620130POU4F3c.154A>T (p.Ser52Cys)
5g.146339582G>ACA361620131POU4F3c.155G>A (p.Ser52Asn)
5g.146339582G>CCA361620132POU4F3c.155G>C (p.Ser52Thr)
5g.146339582G>TCA361620133POU4F3c.155G>T (p.Ser52Ile)
gnomAD v4
5g.146339583C>ACA361620134POU4F3c.156C>A (p.Ser52Arg)
gnomAD v4
5g.146339583C>GCA361620135POU4F3c.156C>G (p.Ser52Arg)
5g.146339583C>TCA446918521POU4F3c.156C>T (p.Ser52=)
5g.146339584C>ACA361620136POU4F3c.157C>A (p.Leu53Met)
5g.146339584C>GCA361620137POU4F3c.157C>G (p.Leu53Val)
5g.146339584C>TCA446918523POU4F3c.157C>T (p.Leu53=)
5g.146339585T>ACA361620138POU4F3c.158T>A (p.Leu53Gln)
5g.146339585T>CCA361620139POU4F3c.158T>C (p.Leu53Pro)
COSMIC
5g.146339585T>GCA361620140POU4F3c.158T>G (p.Leu53Arg)
5g.146339586G>ACA446918527POU4F3c.159G>A (p.Leu53=)
5g.146339586G>CCA446918529POU4F3c.159G>C (p.Leu53=)
5g.146339586G=CA1589086502POU4F3c.159G= (p.Leu53=)
5g.146339586G>TCA446918532POU4F3c.159G>T (p.Leu53=)
dbSNP
5g.146339587C>ACA361620141POU4F3c.160C>A (p.Leu54Met)
gnomAD v4
5g.146339587C>GCA361620142POU4F3c.160C>G (p.Leu54Val)
dbSNP
5g.146339587C>TCA446918534POU4F3c.160C>T (p.Leu54=)
5g.146339588T>ACA3491058POU4F3c.161T>A (p.Leu54Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339588T>CCA361620143POU4F3c.161T>C (p.Leu54Pro)
5g.146339588T>GCA361620144POU4F3c.161T>G (p.Leu54Arg)
dbSNP gnomAD v2 gnomAD v4
5g.146339588T=CA1589086503POU4F3c.161T= (p.Leu54=)
5g.146339589G>ACA3491059POU4F3c.162G>A (p.Leu54=)
dbSNP ExAC gnomAD v2
5g.146339589G>CCA446918542POU4F3c.162G>C (p.Leu54=)
5g.146339589G=CA1589086504POU4F3c.162G= (p.Leu54=)
5g.146339589G>TCA446918543POU4F3c.162G>T (p.Leu54=)
5g.146339590G>ACA361620145POU4F3c.163G>A (p.Ala55Thr)
gnomAD v4
5g.146339590G>CCA361620146POU4F3c.163G>C (p.Ala55Pro)
5g.146339590G=CA1589086505POU4F3c.163G= (p.Ala55=)
5g.146339590G>TCA3491060POU4F3c.163G>T (p.Ala55Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339591C>ACA3491061POU4F3c.164C>A (p.Ala55Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339591C=CA1589086506POU4F3c.164C= (p.Ala55=)
5g.146339591C>GCA361620148POU4F3c.164C>G (p.Ala55Gly)
5g.146339591C>TCA361620147POU4F3c.164C>T (p.Ala55Val)
COSMIC
5g.146339592A=CA1589086507POU4F3c.165A= (p.Ala55=)
5g.146339592A>CCA446918549POU4F3c.165A>C (p.Ala55=)
5g.146339592A>GCA446918550POU4F3c.165A>G (p.Ala55=)
dbSNP gnomAD v3 gnomAD v4
5g.146339592A>TCA446918546POU4F3c.165A>T (p.Ala55=)
5g.146339593C>ACA361620149POU4F3c.166C>A (p.Arg56Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.146339593C=CA1589086508POU4F3c.166C= (p.Arg56=)
5g.146339593C>GCA361620150POU4F3c.166C>G (p.Arg56Gly)
dbSNP gnomAD v2
5g.146339593C>TCA361620151POU4F3c.166C>T (p.Arg56Cys)
COSMIC
5g.146339594G>ACA361620152POU4F3c.167G>A (p.Arg56His)
5g.146339594G>CCA361620153POU4F3c.167G>C (p.Arg56Pro)
dbSNP gnomAD v2 gnomAD v4
5g.146339594G=CA1589086509POU4F3c.167G= (p.Arg56=)
5g.146339594G>TCA361620154POU4F3c.167G>T (p.Arg56Leu)
COSMIC
5g.146339595C>ACA446918553POU4F3c.168C>A (p.Arg56=)
5g.146339595C=CA1589086510POU4F3c.168C= (p.Arg56=)
5g.146339595C>GCA446918552POU4F3c.168C>G (p.Arg56=)
5g.146339595C>TCA3491062POU4F3c.168C>T (p.Arg56=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339596G>ACA361620155POU4F3c.169G>A (p.Ala57Thr)
COSMIC
5g.146339596G>CCA361620156POU4F3c.169G>C (p.Ala57Pro)
5g.146339596G>TCA361620157POU4F3c.169G>T (p.Ala57Ser)
5g.146339597C>ACA361620158POU4F3c.170C>A (p.Ala57Asp)
5g.146339597C>GCA361620159POU4F3c.170C>G (p.Ala57Gly)
ClinVar
5g.146339597C>TCA361620160POU4F3c.170C>T (p.Ala57Val)
gnomAD v4
5g.146339598C>ACA446918560POU4F3c.171C>A (p.Ala57=)
5g.146339598C=CA1589086511POU4F3c.171C= (p.Ala57=)
5g.146339598C>GCA3491063POU4F3c.171C>G (p.Ala57=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339598C>TCA446918562POU4F3c.171C>T (p.Ala57=)
ClinVar gnomAD v4
5g.146339599G>ACA128860434POU4F3c.172G>A (p.Glu58Lys)
dbSNP gnomAD v2 COSMIC
5g.146339599G>CCA361620162POU4F3c.172G>C (p.Glu58Gln)
5g.146339599G=CA1589086512POU4F3c.172G= (p.Glu58=)
5g.146339599G>TCA361620161POU4F3c.172G>T (p.Glu58Ter)
5g.146339600A=CA1589086513POU4F3c.173A= (p.Glu58=)
5g.146339600A>CCA361620163POU4F3c.173A>C (p.Glu58Ala)
5g.146339600A>GCA361620164POU4F3c.173A>G (p.Glu58Gly)
dbSNP
5g.146339600A>TCA361620165POU4F3c.173A>T (p.Glu58Val)
5g.146339601A>CCA361620166POU4F3c.174A>C (p.Glu58Asp)
5g.146339601A>GCA446918565POU4F3c.174A>G (p.Glu58=)
5g.146339601A>TCA361620167POU4F3c.174A>T (p.Glu58Asp)
5g.146339602G>ACA361620168POU4F3c.175G>A (p.Ala59Thr)
COSMIC
5g.146339602G>CCA361620169POU4F3c.175G>C (p.Ala59Pro)
5g.146339602G>TCA361620170POU4F3c.175G>T (p.Ala59Ser)
5g.146339603C>ACA361620171POU4F3c.176C>A (p.Ala59Asp)
5g.146339603C>GCA361620172POU4F3c.176C>G (p.Ala59Gly)
5g.146339603C>TCA361620173POU4F3c.176C>T (p.Ala59Val)
5g.146339604T>ACA446918571POU4F3c.177T>A (p.Ala59=)
5g.146339604T>CCA446918572POU4F3c.177T>C (p.Ala59=)
gnomAD v4
5g.146339604T>GCA446918573POU4F3c.177T>G (p.Ala59=)
5g.146339605C>ACA361620174POU4F3c.178C>A (p.Leu60Met)
5g.146339605C>GCA361620175POU4F3c.178C>G (p.Leu60Val)
gnomAD v4
5g.146339605C>TCA446918575POU4F3c.178C>T (p.Leu60=)
5g.146339606T>ACA361620177POU4F3c.179T>A (p.Leu60Gln)
5g.146339606T>CCA3491064POU4F3c.179T>C (p.Leu60Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339606T>GCA361620176POU4F3c.179T>G (p.Leu60Arg)
5g.146339606T=CA1589086514POU4F3c.179T= (p.Leu60=)
5g.146339607G>ACA446918582POU4F3c.180G>A (p.Leu60=)
5g.146339607G>CCA446918583POU4F3c.180G>C (p.Leu60=)
5g.146339607G>TCA446918584POU4F3c.180G>T (p.Leu60=)
5g.146339608G>ACA361620178POU4F3c.181G>A (p.Ala61Thr)
5g.146339608G>CCA361620179POU4F3c.181G>C (p.Ala61Pro)
5g.146339608G>TCA361620180POU4F3c.181G>T (p.Ala61Ser)
5g.146339609C>ACA3491065POU4F3c.182C>A (p.Ala61Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339609C=CA1589086515POU4F3c.182C= (p.Ala61=)
5g.146339609C>GCA361620181POU4F3c.182C>G (p.Ala61Gly)
5g.146339609C>TCA361620182POU4F3c.182C>T (p.Ala61Val)
dbSNP
5g.146339609_146339610delinsCGCA1589086516POU4F3c.182_183delinsCG (p.Ala61=)
5g.146339610G>ACA128860474POU4F3c.183G>A (p.Ala61=)
dbSNP gnomAD v4
5g.146339610G>CCA446918593POU4F3c.183G>C (p.Ala61=)
5g.146339610G=CA1589086517POU4F3c.183G= (p.Ala61=)
5g.146339610G>TCA446918594POU4F3c.183G>T (p.Ala61=)
gnomAD v4
5g.146339611delCA1139659121POU4F3c.184del (p.Ala62ArgfsTer22)
ClinVar dbSNP
5g.146339611G>ACA361620183POU4F3c.184G>A (p.Ala62Thr)
5g.146339611G>CCA361620184POU4F3c.184G>C (p.Ala62Pro)
gnomAD v4
5g.146339611G=CA1589086518POU4F3c.184G= (p.Ala62=)
5g.146339611G>TCA361620185POU4F3c.184G>T (p.Ala62Ser)
ClinVar dbSNP
5g.146339612C>ACA361620186POU4F3c.185C>A (p.Ala62Glu)
dbSNP gnomAD v4
5g.146339612C=CA1589086519POU4F3c.185C= (p.Ala62=)
5g.146339612C>GCA361620187POU4F3c.185C>G (p.Ala62Gly)
dbSNP gnomAD v2 gnomAD v4
5g.146339612C>TCA128860485POU4F3c.185C>T (p.Ala62Val)
dbSNP gnomAD v4
5g.146339613G>ACA446918598POU4F3c.186G>A (p.Ala62=)
COSMIC
5g.146339613G>CCA446918600POU4F3c.186G>C (p.Ala62=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339613G=CA1589086520POU4F3c.186G= (p.Ala62=)
5g.146339613G>TCA446918599POU4F3c.186G>T (p.Ala62=)
gnomAD v4
5g.146339614G>ACA361620188POU4F3c.187G>A (p.Val63Met)
dbSNP gnomAD v2 gnomAD v4
5g.146339614G>CCA361620190POU4F3c.187G>C (p.Val63Leu)
5g.146339614G=CA1589086521POU4F3c.187G= (p.Val63=)
5g.146339614G>TCA361620189POU4F3c.187G>T (p.Val63Leu)
5g.146339615T>ACA361620191POU4F3c.188T>A (p.Val63Glu)
5g.146339615T>CCA361620193POU4F3c.188T>C (p.Val63Ala)
5g.146339615T>GCA361620192POU4F3c.188T>G (p.Val63Gly)
dbSNP
5g.146339615T=CA1589086522POU4F3c.188T= (p.Val63=)
5g.146339616G>ACA446918603POU4F3c.189G>A (p.Val63=)
dbSNP gnomAD v2 gnomAD v4
5g.146339616G>CCA446918604POU4F3c.189G>C (p.Val63=)
5g.146339616G=CA1589086523POU4F3c.189G= (p.Val63=)
5g.146339616G>TCA446918607POU4F3c.189G>T (p.Val63=)
5g.146339617G>ACA361620194POU4F3c.190G>A (p.Asp64Asn)
5g.146339617G>CCA361620195POU4F3c.190G>C (p.Asp64His)
dbSNP gnomAD v4
5g.146339617G=CA1589086524POU4F3c.190G= (p.Asp64=)
5g.146339617G>TCA361620196POU4F3c.190G>T (p.Asp64Tyr)
5g.146339618A=CA1589086525POU4F3c.191A= (p.Asp64=)
5g.146339618A>CCA361620197POU4F3c.191A>C (p.Asp64Ala)
5g.146339618A>GCA128860486POU4F3c.191A>G (p.Asp64Gly)
dbSNP
5g.146339618A>TCA361620198POU4F3c.191A>T (p.Asp64Val)
gnomAD v4
5g.146339619T>ACA361620199POU4F3c.192T>A (p.Asp64Glu)
5g.146339619T>CCA185520POU4F3c.192T>C (p.Asp64=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339619T>GCA361620200POU4F3c.192T>G (p.Asp64Glu)
5g.146339619T=CA1589086526POU4F3c.192T= (p.Asp64=)
5g.146339620A>CCA361620201POU4F3c.193A>C (p.Ile65Leu)
5g.146339620A>GCA361620202POU4F3c.193A>G (p.Ile65Val)
gnomAD v4
5g.146339620A>TCA361620203POU4F3c.193A>T (p.Ile65Phe)
5g.146339621T>ACA361620206POU4F3c.194T>A (p.Ile65Asn)
5g.146339621T>CCA361620204POU4F3c.194T>C (p.Ile65Thr)
gnomAD v4
5g.146339621T>GCA361620205POU4F3c.194T>G (p.Ile65Ser)
5g.146339622C>ACA446918615POU4F3c.195C>A (p.Ile65=)
gnomAD v4
5g.146339622C=CA1589086527POU4F3c.195C= (p.Ile65=)
5g.146339622C>GCA361620207POU4F3c.195C>G (p.Ile65Met)
gnomAD v4
5g.146339622C>TCA3491066POU4F3c.195C>T (p.Ile65=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339623G>ACA361620208POU4F3c.196G>A (p.Val66Ile)
dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.146339623G>CCA361620209POU4F3c.196G>C (p.Val66Leu)
gnomAD v4
5g.146339623G=CA1589086528POU4F3c.196G= (p.Val66=)
5g.146339623G>TCA361620210POU4F3c.196G>T (p.Val66Phe)
gnomAD v4
5g.146339624T>ACA361620211POU4F3c.197T>A (p.Val66Asp)
5g.146339624T>CCA361620212POU4F3c.197T>C (p.Val66Ala)
5g.146339624T>GCA361620213POU4F3c.197T>G (p.Val66Gly)
dbSNP
5g.146339624T=CA1589086529POU4F3c.197T= (p.Val66=)
5g.146339625C>ACA446918624POU4F3c.198C>A (p.Val66=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339625C=CA1589086530POU4F3c.198C= (p.Val66=)
5g.146339625C>GCA446918627POU4F3c.198C>G (p.Val66=)
5g.146339625C>TCA446918628POU4F3c.198C>T (p.Val66=)
5g.146339626T>ACA361620214POU4F3c.199T>A (p.Ser67Thr)
5g.146339626T>CCA361620215POU4F3c.199T>C (p.Ser67Pro)
5g.146339626T>GCA361620216POU4F3c.199T>G (p.Ser67Ala)
5g.146339627C>ACA361620219POU4F3c.200C>A (p.Ser67Tyr)
5g.146339627C>GCA361620218POU4F3c.200C>G (p.Ser67Cys)
5g.146339627C>TCA361620217POU4F3c.200C>T (p.Ser67Phe)
5g.146339628C>ACA446918630POU4F3c.201C>A (p.Ser67=)
5g.146339628C>GCA446918631POU4F3c.201C>G (p.Ser67=)
5g.146339628C>TCA446918632POU4F3c.201C>T (p.Ser67=)
5g.146339629C>ACA361620220POU4F3c.202C>A (p.His68Asn)
5g.146339629C=CA1589086531POU4F3c.202C= (p.His68=)
5g.146339629C>GCA361620221POU4F3c.202C>G (p.His68Asp)
5g.146339629C>TCA361620222POU4F3c.202C>T (p.His68Tyr)
dbSNP gnomAD v4
5g.146339630A>CCA361620223POU4F3c.203A>C (p.His68Pro)
5g.146339630A>GCA361620224POU4F3c.203A>G (p.His68Arg)
5g.146339630A>TCA361620225POU4F3c.203A>T (p.His68Leu)
5g.146339631C>ACA361620226POU4F3c.204C>A (p.His68Gln)
5g.146339631C=CA1589086532POU4F3c.204C= (p.His68=)
5g.146339631C>GCA361620227POU4F3c.204C>G (p.His68Gln)
5g.146339631C>TCA128860508POU4F3c.204C>T (p.His68=)
dbSNP gnomAD v3 gnomAD v4
5g.146339632G>ACA361620228POU4F3c.205G>A (p.Gly69Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.146339632G>CCA361620229POU4F3c.205G>C (p.Gly69Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339632G=CA1589086533POU4F3c.205G= (p.Gly69=)
5g.146339632G>TCA3491067POU4F3c.205G>T (p.Gly69Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339633G>ACA361620231POU4F3c.206G>A (p.Gly69Asp)
5g.146339633G>CCA361620230POU4F3c.206G>C (p.Gly69Ala)
gnomAD v4
5g.146339633G=CA1589086534POU4F3c.206G= (p.Gly69=)
5g.146339633G>TCA3491068POU4F3c.206G>T (p.Gly69Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339634C>ACA446918644POU4F3c.207C>A (p.Gly69=)
gnomAD v4
5g.146339634C=CA1589086535POU4F3c.207C= (p.Gly69=)
5g.146339634C>GCA446918645POU4F3c.207C>G (p.Gly69=)
dbSNP
5g.146339634C>TCA3491069POU4F3c.207C>T (p.Gly69=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339635A=CA1589086536POU4F3c.208A= (p.Lys70=)
5g.146339635A>CCA361620232POU4F3c.208A>C (p.Lys70Gln)
5g.146339635A>GCA128860525POU4F3c.208A>G (p.Lys70Glu)
dbSNP gnomAD v4
5g.146339635A>TCA361620233POU4F3c.208A>T (p.Lys70Ter)
5g.146339636A>CCA361620234POU4F3c.209A>C (p.Lys70Thr)
5g.146339636A>GCA361620235POU4F3c.209A>G (p.Lys70Arg)
gnomAD v4
5g.146339636A>TCA361620236POU4F3c.209A>T (p.Lys70Met)
5g.146339637G>ACA446918652POU4F3c.210G>A (p.Lys70=)
gnomAD v4
5g.146339637G>CCA361620237POU4F3c.210G>C (p.Lys70Asn)
gnomAD v4
5g.146339637G>TCA361620238POU4F3c.210G>T (p.Lys70Asn)
5g.146339638A>CCA361620239POU4F3c.211A>C (p.Asn71His)
5g.146339638A>GCA361620240POU4F3c.211A>G (p.Asn71Asp)
5g.146339638A>TCA361620241POU4F3c.211A>T (p.Asn71Tyr)
5g.146339639A>CCA361620244POU4F3c.212A>C (p.Asn71Thr)
gnomAD v4
5g.146339639A>GCA361620243POU4F3c.212A>G (p.Asn71Ser)
5g.146339639A>TCA361620242POU4F3c.212A>T (p.Asn71Ile)
5g.146339640C>ACA361620245POU4F3c.213C>A (p.Asn71Lys)
gnomAD v4 COSMIC
5g.146339640C=CA1589086537POU4F3c.213C= (p.Asn71=)
5g.146339640C>GCA361620246POU4F3c.213C>G (p.Asn71Lys)
5g.146339640C>TCA446918654POU4F3c.213C>T (p.Asn71=)
dbSNP
5g.146339641C>ACA361620247POU4F3c.214C>A (p.His72Asn)
5g.146339641C=CA1589086538POU4F3c.214C= (p.His72=)
5g.146339641C>GCA3491070POU4F3c.214C>G (p.His72Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339641C>TCA3491071POU4F3c.214C>T (p.His72Tyr)
dbSNP ExAC gnomAD v2
5g.146339642A>CCA361620248POU4F3c.215A>C (p.His72Pro)
5g.146339642A>GCA361620250POU4F3c.215A>G (p.His72Arg)
5g.146339642A>TCA361620249POU4F3c.215A>T (p.His72Leu)
gnomAD v4
5g.146339643T>ACA361620251POU4F3c.216T>A (p.His72Gln)
gnomAD v4
5g.146339643T>CCA446918657POU4F3c.216T>C (p.His72=)
5g.146339643T>GCA361620252POU4F3c.216T>G (p.His72Gln)
dbSNP
5g.146339643T=CA1589086539POU4F3c.216T= (p.His72=)
5g.146339644C>ACA361620253POU4F3c.217C>A (p.Pro73Thr)
5g.146339644C=CA1589086540POU4F3c.217C= (p.Pro73=)
5g.146339644C>GCA361620254POU4F3c.217C>G (p.Pro73Ala)
5g.146339644C>TCA3491072POU4F3c.217C>T (p.Pro73Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339645C>ACA361620255POU4F3c.218C>A (p.Pro73Gln)
gnomAD v4
5g.146339645C=CA1589086541POU4F3c.218C= (p.Pro73=)
5g.146339645C>GCA361620256POU4F3c.218C>G (p.Pro73Arg)
5g.146339645C>TCA361620257POU4F3c.218C>T (p.Pro73Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.146339646G>ACA446918658POU4F3c.219G>A (p.Pro73=)
gnomAD v4 COSMIC
5g.146339646G>CCA446918659POU4F3c.219G>C (p.Pro73=)
5g.146339646G=CA1589086542POU4F3c.219G= (p.Pro73=)
5g.146339646G>TCA3491073POU4F3c.219G>T (p.Pro73=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339647T>ACA361620258POU4F3c.220T>A (p.Phe74Ile)
5g.146339647T>CCA361620259POU4F3c.220T>C (p.Phe74Leu)
5g.146339647T>GCA361620260POU4F3c.220T>G (p.Phe74Val)
5g.146339648T>ACA361620261POU4F3c.221T>A (p.Phe74Tyr)
5g.146339648T>CCA361620262POU4F3c.221T>C (p.Phe74Ser)
5g.146339648T>GCA361620263POU4F3c.221T>G (p.Phe74Cys)
5g.146339649C>ACA361620265POU4F3c.222C>A (p.Phe74Leu)
5g.146339649C>GCA361620264POU4F3c.222C>G (p.Phe74Leu)
5g.146339649C>TCA446918665POU4F3c.222C>T (p.Phe74=)
5g.146339650A>CCA361620266POU4F3c.223A>C (p.Lys75Gln)
5g.146339650A>GCA361620267POU4F3c.223A>G (p.Lys75Glu)
5g.146339650A>TCA361620268POU4F3c.223A>T (p.Lys75Ter)
5g.146339651A>CCA361620269POU4F3c.224A>C (p.Lys75Thr)
5g.146339651A>GCA361620270POU4F3c.224A>G (p.Lys75Arg)
5g.146339651A>TCA361620271POU4F3c.224A>T (p.Lys75Met)
5g.146339652delCA2695205582POU4F3c.225del (p.Lys75AsnfsTer9)
5g.146339652G>ACA446918668POU4F3c.225G>A (p.Lys75=)
dbSNP
5g.146339652G>CCA361620273POU4F3c.225G>C (p.Lys75Asn)
5g.146339652G=CA1589086543POU4F3c.225G= (p.Lys75=)
5g.146339652G>TCA361620272POU4F3c.225G>T (p.Lys75Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339653C>ACA361620274POU4F3c.226C>A (p.Pro76Thr)
5g.146339653C>GCA361620275POU4F3c.226C>G (p.Pro76Ala)
5g.146339653C>TCA361620276POU4F3c.226C>T (p.Pro76Ser)
5g.146339654C>ACA361620277POU4F3c.227C>A (p.Pro76His)
5g.146339654C=CA1589086544POU4F3c.227C= (p.Pro76=)
5g.146339654C>GCA128860527POU4F3c.227C>G (p.Pro76Arg)
dbSNP
5g.146339654C>TCA361620278POU4F3c.227C>T (p.Pro76Leu)
gnomAD v4
5g.146339655C>ACA446918673POU4F3c.228C>A (p.Pro76=)
COSMIC
5g.146339655C=CA1589086545POU4F3c.228C= (p.Pro76=)
5g.146339655C>GCA446918675POU4F3c.228C>G (p.Pro76=)
5g.146339655C>TCA446918674POU4F3c.228C>T (p.Pro76=)
ClinVar dbSNP gnomAD v4
5g.146339656G>ACA361620279POU4F3c.229G>A (p.Asp77Asn)
gnomAD v4 COSMIC
5g.146339656G>CCA361620281POU4F3c.229G>C (p.Asp77His)
5g.146339656G>TCA361620280POU4F3c.229G>T (p.Asp77Tyr)
5g.146339657A=CA1589086546POU4F3c.230A= (p.Asp77=)
5g.146339657A>CCA361620282POU4F3c.230A>C (p.Asp77Ala)
5g.146339657A>GCA3491074POU4F3c.230A>G (p.Asp77Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339657A>TCA361620283POU4F3c.230A>T (p.Asp77Val)
5g.146339658C>ACA361620284POU4F3c.231C>A (p.Asp77Glu)
5g.146339658C=CA1589086547POU4F3c.231C= (p.Asp77=)
5g.146339658C>GCA361620285POU4F3c.231C>G (p.Asp77Glu)
5g.146339658C>TCA3491075POU4F3c.231C>T (p.Asp77=)
dbSNP ExAC
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

Number of alleles fetched