Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.146339673_146340072delinsGGCA2573139233POU4F3c.246_645delinsGG (p.Met83GlufsTer?)
ClinVar dbSNP
5g.146339989G>ACA361621151POU4F3c.562G>A (p.Glu188Lys)
dbSNP gnomAD v2 gnomAD v4
5g.146339989G>CCA361621153POU4F3c.562G>C (p.Glu188Gln)
5g.146339989G=CA1589086722POU4F3c.562G= (p.Glu188=)
5g.146339989G>TCA361621156POU4F3c.562G>T (p.Glu188Ter)
5g.146339990A>CCA361621158POU4F3c.563A>C (p.Glu188Ala)
5g.146339990A>GCA361621161POU4F3c.563A>G (p.Glu188Gly)
5g.146339990A>TCA361621163POU4F3c.563A>T (p.Glu188Val)
5g.146339991dupCA2580613684POU4F3c.564dup (p.Ala189SerfsTer26)
ClinVar
5g.146339991A=CA1589086723POU4F3c.564A= (p.Glu188=)
5g.146339991A>CCA361621167POU4F3c.564A>C (p.Glu188Asp)
5g.146339991A>GCA128860958POU4F3c.564A>G (p.Glu188=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339991A>TCA361621168POU4F3c.564A>T (p.Glu188Asp)
5g.146339992G>ACA361621171POU4F3c.565G>A (p.Ala189Thr)
gnomAD v4
5g.146339992G>CCA361621174POU4F3c.565G>C (p.Ala189Pro)
5g.146339992G>TCA361621176POU4F3c.565G>T (p.Ala189Ser)
gnomAD v4
5g.146339993C>ACA361621179POU4F3c.566C>A (p.Ala189Asp)
dbSNP gnomAD v2 gnomAD v4
5g.146339993C=CA1589086724POU4F3c.566C= (p.Ala189=)
5g.146339993C>GCA361621182POU4F3c.566C>G (p.Ala189Gly)
5g.146339993C>TCA361621186POU4F3c.566C>T (p.Ala189Val)
gnomAD v4
5g.146339994C>ACA447097804POU4F3c.567C>A (p.Ala189=)
5g.146339994C>GCA447097806POU4F3c.567C>G (p.Ala189=)
5g.146339994C>TCA447097803POU4F3c.567C>T (p.Ala189=)
5g.146339995T>ACA361621193POU4F3c.568T>A (p.Phe190Ile)
5g.146339995T>CCA361621189POU4F3c.568T>C (p.Phe190Leu)
5g.146339995T>GCA361621191POU4F3c.568T>G (p.Phe190Val)
5g.146339996T>ACA361621197POU4F3c.569T>A (p.Phe190Tyr)
5g.146339996T>CCA361621198POU4F3c.569T>C (p.Phe190Ser)
5g.146339996T>GCA361621203POU4F3c.569T>G (p.Phe190Cys)
5g.146339997C>ACA361621206POU4F3c.570C>A (p.Phe190Leu)
gnomAD v4
5g.146339997C=CA1589086725POU4F3c.570C= (p.Phe190=)
5g.146339997C>GCA361621208POU4F3c.570C>G (p.Phe190Leu)
dbSNP gnomAD v3 gnomAD v4
5g.146339997C>TCA447097811POU4F3c.570C>T (p.Phe190=)
gnomAD v4
5g.146339998G>ACA361621217POU4F3c.571G>A (p.Ala191Thr)
COSMIC
5g.146339998G>CCA361621211POU4F3c.571G>C (p.Ala191Pro)
gnomAD v4
5g.146339998G>TCA361621214POU4F3c.571G>T (p.Ala191Ser)
5g.146339999C>ACA361621219POU4F3c.572C>A (p.Ala191Asp)
5g.146339999C=CA1589086726POU4F3c.572C= (p.Ala191=)
5g.146339999C>GCA361621220POU4F3c.572C>G (p.Ala191Gly)
5g.146339999C>TCA361621223POU4F3c.572C>T (p.Ala191Val)
dbSNP gnomAD v3 gnomAD v4
5g.146340000C>ACA447097818POU4F3c.573C>A (p.Ala191=)
5g.146340000C=CA1589086727POU4F3c.573C= (p.Ala191=)
5g.146340000C>GCA128860959POU4F3c.573C>G (p.Ala191=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146340000C>TCA447097820POU4F3c.573C>T (p.Ala191=)
5g.146340001G>ACA361621229POU4F3c.574G>A (p.Glu192Lys)
5g.146340001G>CCA361621230POU4F3c.574G>C (p.Glu192Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146340001G=CA1589086728POU4F3c.574G= (p.Glu192=)
5g.146340001G>TCA361621232POU4F3c.574G>T (p.Glu192Ter)
5g.146340002A>CCA361621234POU4F3c.575A>C (p.Glu192Ala)
5g.146340002A>GCA361621236POU4F3c.575A>G (p.Glu192Gly)
5g.146340002A>TCA361621238POU4F3c.575A>T (p.Glu192Val)
5g.146340003G>ACA3491166POU4F3c.576G>A (p.Glu192=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146340003G>CCA361621241POU4F3c.576G>C (p.Glu192Asp)
5g.146340003G=CA1589086729POU4F3c.576G= (p.Glu192=)
5g.146340003G>TCA361621244POU4F3c.576G>T (p.Glu192Asp)
5g.146340004C>ACA361621247POU4F3c.577C>A (p.Arg193Ser)
gnomAD v4
5g.146340004C=CA1589086730POU4F3c.577C= (p.Arg193=)
5g.146340004C>GCA361621251POU4F3c.577C>G (p.Arg193Gly)
5g.146340004C>TCA10623123POU4F3c.577C>T (p.Arg193Cys)
ClinVar dbSNP
5g.146340005G>ACA361621255POU4F3c.578G>A (p.Arg193His)
dbSNP gnomAD v3 gnomAD v4
5g.146340005G>CCA361621256POU4F3c.578G>C (p.Arg193Pro)
5g.146340005G=CA1589086731POU4F3c.578G= (p.Arg193=)
5g.146340005G>TCA3491167POU4F3c.578G>T (p.Arg193Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146340006C>ACA447097827POU4F3c.579C>A (p.Arg193=)
5g.146340006C>GCA447097828POU4F3c.579C>G (p.Arg193=)
5g.146340006C>TCA447097829POU4F3c.579C>T (p.Arg193=)
5g.146340007T>ACA361621261POU4F3c.580T>A (p.Phe194Ile)
5g.146340007T>CCA361621263POU4F3c.580T>C (p.Phe194Leu)
5g.146340007T>GCA361621265POU4F3c.580T>G (p.Phe194Val)
5g.146340008T>ACA361621273POU4F3c.581T>A (p.Phe194Tyr)
dbSNP gnomAD v4
5g.146340008T>CCA361621269POU4F3c.581T>C (p.Phe194Ser)
5g.146340008T>GCA361621271POU4F3c.581T>G (p.Phe194Cys)
5g.146340008T=CA1589086732POU4F3c.581T= (p.Phe194=)
5g.146340009C>ACA361621274POU4F3c.582C>A (p.Phe194Leu)
5g.146340009C>GCA361621276POU4F3c.582C>G (p.Phe194Leu)
5g.146340009C>TCA447097832POU4F3c.582C>T (p.Phe194=)
5g.146340010A>CCA361621279POU4F3c.583A>C (p.Lys195Gln)
5g.146340010A>GCA361621282POU4F3c.583A>G (p.Lys195Glu)
5g.146340010A>TCA361621284POU4F3c.583A>T (p.Lys195Ter)
5g.146340011A>CCA361621288POU4F3c.584A>C (p.Lys195Thr)
5g.146340011A>GCA361621293POU4F3c.584A>G (p.Lys195Arg)
5g.146340011A>TCA361621290POU4F3c.584A>T (p.Lys195Met)
5g.146340012G>ACA447097834POU4F3c.585G>A (p.Lys195=)
dbSNP gnomAD v4
5g.146340012G>CCA361621297POU4F3c.585G>C (p.Lys195Asn)
5g.146340012G=CA1589086733POU4F3c.585G= (p.Lys195=)
5g.146340012G>TCA361621299POU4F3c.585G>T (p.Lys195Asn)
5g.146340013C>ACA361621302POU4F3c.586C>A (p.Gln196Lys)
5g.146340013C>GCA361621304POU4F3c.586C>G (p.Gln196Glu)
5g.146340013C>TCA361621307POU4F3c.586C>T (p.Gln196Ter)
5g.146340014A>CCA361621309POU4F3c.587A>C (p.Gln196Pro)
5g.146340014A>GCA361621311POU4F3c.587A>G (p.Gln196Arg)
5g.146340014A>TCA361621312POU4F3c.587A>T (p.Gln196Leu)
5g.146340015G>ACA447097837POU4F3c.588G>A (p.Gln196=)
5g.146340015G>CCA361621315POU4F3c.588G>C (p.Gln196His)
5g.146340015G>TCA361621317POU4F3c.588G>T (p.Gln196His)
5g.146340016C>ACA3491168POU4F3c.589C>A (p.Arg197=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146340016C=CA1589086734POU4F3c.589C= (p.Arg197=)
5g.146340016C>GCA361621326POU4F3c.589C>G (p.Arg197Gly)
dbSNP
5g.146340016C>TCA361621323POU4F3c.589C>T (p.Arg197Trp)
dbSNP gnomAD v2
5g.146340017G>ACA361621329POU4F3c.590G>A (p.Arg197Gln)
5g.146340017G>CCA361621334POU4F3c.590G>C (p.Arg197Pro)
ClinVar dbSNP
5g.146340017G>TCA361621331POU4F3c.590G>T (p.Arg197Leu)
COSMIC
5g.146340018G>ACA10623125POU4F3c.591G>A (p.Arg197=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146340018G>CCA447097771POU4F3c.591G>C (p.Arg197=)
dbSNP
5g.146340018G=CA1589086735POU4F3c.591G= (p.Arg197=)
5g.146340018G>TCA447097772POU4F3c.591G>T (p.Arg197=)
5g.146340019C>ACA361621342POU4F3c.592C>A (p.Arg198Ser)
5g.146340019C=CA1589086736POU4F3c.592C= (p.Arg198=)
5g.146340019C>GCA361621339POU4F3c.592C>G (p.Arg198Gly)
5g.146340019C>TCA361621340POU4F3c.592C>T (p.Arg198Cys)
5g.146340020G>ACA361621345POU4F3c.593G>A (p.Arg198His)
ClinVar dbSNP gnomAD v4
5g.146340020G>CCA361621347POU4F3c.593G>C (p.Arg198Pro)
gnomAD v4
5g.146340020G=CA1589086737POU4F3c.593G= (p.Arg198=)
5g.146340020G>TCA361621350POU4F3c.593G>T (p.Arg198Leu)
5g.146340020_146340021insAAGGCA917602691POU4F3c.593_594insAAGG (p.Ile199ArgfsTer17)
dbSNP
5g.146340021C>ACA447097776POU4F3c.594C>A (p.Arg198=)
5g.146340021C>GCA447097777POU4F3c.594C>G (p.Arg198=)
5g.146340021C>TCA447097778POU4F3c.594C>T (p.Arg198=)
5g.146340022A=CA1589086738POU4F3c.595A= (p.Ile199=)
5g.146340022A>CCA361621353POU4F3c.595A>C (p.Ile199Leu)
5g.146340022A>GCA361621354POU4F3c.595A>G (p.Ile199Val)
dbSNP gnomAD v2 gnomAD v4
5g.146340022A>TCA361621359POU4F3c.595A>T (p.Ile199Phe)
dbSNP
5g.146340023T>ACA361621361POU4F3c.596T>A (p.Ile199Asn)
COSMIC
5g.146340023T>CCA361621362POU4F3c.596T>C (p.Ile199Thr)
5g.146340023T>GCA361621373POU4F3c.596T>G (p.Ile199Ser)
gnomAD v4
5g.146340024C>ACA447097782POU4F3c.597C>A (p.Ile199=)
5g.146340024C>GCA361621375POU4F3c.597C>G (p.Ile199Met)
gnomAD v4
5g.146340024C>TCA447097784POU4F3c.597C>T (p.Ile199=)
COSMIC
5g.146340025A=CA1589086739POU4F3c.598A= (p.Lys200=)
5g.146340025A>CCA361621384POU4F3c.598A>C (p.Lys200Gln)
dbSNP
5g.146340025A>GCA361621378POU4F3c.598A>G (p.Lys200Glu)
COSMIC
5g.146340025A>TCA361621381POU4F3c.598A>T (p.Lys200Ter)
5g.146340026A>CCA361621387POU4F3c.599A>C (p.Lys200Thr)
5g.146340026A>GCA361621389POU4F3c.599A>G (p.Lys200Arg)
5g.146340026A>TCA361621391POU4F3c.599A>T (p.Lys200Met)
5g.146340027G>ACA3491169POU4F3c.600G>A (p.Lys200=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146340027G>CCA361621394POU4F3c.600G>C (p.Lys200Asn)
5g.146340027G=CA1589086740POU4F3c.600G= (p.Lys200=)
5g.146340027G>TCA361621397POU4F3c.600G>T (p.Lys200Asn)
5g.146340028C>ACA361621398POU4F3c.601C>A (p.Leu201Met)
5g.146340028C>GCA361621400POU4F3c.601C>G (p.Leu201Val)
5g.146340028C>TCA447097791POU4F3c.601C>T (p.Leu201=)
5g.146340029delCA658820750POU4F3c.602del (p.Leu201ArgfsTer3)
5g.146340029T>ACA361621401POU4F3c.602T>A (p.Leu201Gln)
5g.146340029T>CCA361621402POU4F3c.602T>C (p.Leu201Pro)
ClinVar dbSNP gnomAD v4
5g.146340029T>GCA361621405POU4F3c.602T>G (p.Leu201Arg)
5g.146340029T=CA1589086741POU4F3c.602T= (p.Leu201=)
5g.146340030G>ACA447097795POU4F3c.603G>A (p.Leu201=)
dbSNP
5g.146340030G>CCA447097796POU4F3c.603G>C (p.Leu201=)
dbSNP gnomAD v4
5g.146340030G=CA1589086742POU4F3c.603G= (p.Leu201=)
5g.146340030G>TCA447097793POU4F3c.603G>T (p.Leu201=)
5g.146340033_146340034delCA658820751POU4F3c.606_607del (p.Val203AspfsTer11)
5g.146340031G>ACA361621461POU4F3c.604G>A (p.Gly202Arg)
ClinVar dbSNP
5g.146340031G>CCA361621453POU4F3c.604G>C (p.Gly202Arg)
5g.146340031G=CA1589086743POU4F3c.604G= (p.Gly202=)
5g.146340031G>TCA361621408POU4F3c.604G>T (p.Gly202Trp)
5g.146340032G>ACA361621463POU4F3c.605G>A (p.Gly202Glu)
gnomAD v4
5g.146340032G>CCA128860981POU4F3c.605G>C (p.Gly202Ala)
ClinVar dbSNP gnomAD v4
5g.146340032G=CA1589086744POU4F3c.605G= (p.Gly202=)
5g.146340032G>TCA361621466POU4F3c.605G>T (p.Gly202Val)
5g.146340033G>ACA447097802POU4F3c.606G>A (p.Gly202=)
5g.146340033G>CCA447097800POU4F3c.606G>C (p.Gly202=)
gnomAD v4
5g.146340033G>TCA447097801POU4F3c.606G>T (p.Gly202=)
gnomAD v4
5g.146340034G>ACA361621468POU4F3c.607G>A (p.Val203Met)
dbSNP gnomAD v4
5g.146340034G>CCA361621469POU4F3c.607G>C (p.Val203Leu)
5g.146340034G=CA1589086745POU4F3c.607G= (p.Val203=)
5g.146340034G>TCA361621472POU4F3c.607G>T (p.Val203Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.146340035T>ACA361621474POU4F3c.608T>A (p.Val203Glu)
5g.146340035T>CCA361621476POU4F3c.608T>C (p.Val203Ala)
5g.146340035T>GCA361621479POU4F3c.608T>G (p.Val203Gly)
dbSNP
5g.146340035T=CA1589086746POU4F3c.608T= (p.Val203=)
5g.146340036G>ACA3491170POU4F3c.609G>A (p.Val203=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.146340036G>CCA447097809POU4F3c.609G>C (p.Val203=)
5g.146340036G=CA1589086747POU4F3c.609G= (p.Val203=)
5g.146340036G>TCA447097805POU4F3c.609G>T (p.Val203=)
gnomAD v4
5g.146340037delCA563234445POU4F3c.610del (p.Thr204ProfsTer20)
gnomAD v2 gnomAD v4
5g.146340037A>CCA361621481POU4F3c.610A>C (p.Thr204Pro)
5g.146340037A>GCA361621484POU4F3c.610A>G (p.Thr204Ala)
5g.146340037A>TCA361621487POU4F3c.610A>T (p.Thr204Ser)
5g.146340038C>ACA361621494POU4F3c.611C>A (p.Thr204Asn)
COSMIC
5g.146340038C>GCA361621489POU4F3c.611C>G (p.Thr204Ser)
5g.146340038C>TCA361621491POU4F3c.611C>T (p.Thr204Ile)
5g.146340039C>ACA447097816POU4F3c.612C>A (p.Thr204=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146340039C=CA1589086748POU4F3c.612C= (p.Thr204=)
5g.146340039C>GCA447097814POU4F3c.612C>G (p.Thr204=)
dbSNP gnomAD v3 gnomAD v4
5g.146340039C>TCA447097812POU4F3c.612C>T (p.Thr204=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146340040C>ACA361621496POU4F3c.613C>A (p.Gln205Lys)
COSMIC
5g.146340040C>GCA361621497POU4F3c.613C>G (p.Gln205Glu)
5g.146340040C>TCA361621498POU4F3c.613C>T (p.Gln205Ter)
5g.146340041A>CCA361621503POU4F3c.614A>C (p.Gln205Pro)
5g.146340041A>GCA361621507POU4F3c.614A>G (p.Gln205Arg)
gnomAD v4
5g.146340041A>TCA361621509POU4F3c.614A>T (p.Gln205Leu)
5g.146340042G>ACA447097821POU4F3c.615G>A (p.Gln205=)
5g.146340042G>CCA361621512POU4F3c.615G>C (p.Gln205His)
5g.146340042G>TCA361621514POU4F3c.615G>T (p.Gln205His)
COSMIC
5g.146340043G>ACA361621517POU4F3c.616G>A (p.Ala206Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146340043G>CCA361621519POU4F3c.616G>C (p.Ala206Pro)
5g.146340043G=CA1589086749POU4F3c.616G= (p.Ala206=)
5g.146340043G>TCA361621521POU4F3c.616G>T (p.Ala206Ser)
5g.146340044C>ACA361621529POU4F3c.617C>A (p.Ala206Glu)
dbSNP gnomAD v2 gnomAD v4
5g.146340044C=CA1589086750POU4F3c.617C= (p.Ala206=)
5g.146340044C>GCA361621527POU4F3c.617C>G (p.Ala206Gly)
gnomAD v4
5g.146340044C>TCA361621525POU4F3c.617C>T (p.Ala206Val)
5g.146340045G>ACA447097822POU4F3c.618G>A (p.Ala206=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.146340045G>CCA447097823POU4F3c.618G>C (p.Ala206=)
5g.146340045G=CA1589086751POU4F3c.618G= (p.Ala206=)
5g.146340045G>TCA447097825POU4F3c.618G>T (p.Ala206=)
gnomAD v4
5g.146340046G>ACA361621531POU4F3c.619G>A (p.Asp207Asn)
5g.146340046G>CCA361621536POU4F3c.619G>C (p.Asp207His)
5g.146340046G>TCA361621534POU4F3c.619G>T (p.Asp207Tyr)
5g.146340047A=CA1589086752POU4F3c.620A= (p.Asp207=)
5g.146340047A>CCA361621539POU4F3c.620A>C (p.Asp207Ala)
5g.146340047A>GCA3491171POU4F3c.620A>G (p.Asp207Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146340047A>TCA361621542POU4F3c.620A>T (p.Asp207Val)
5g.146340048C>ACA361621547POU4F3c.621C>A (p.Asp207Glu)
5g.146340048C>GCA361621548POU4F3c.621C>G (p.Asp207Glu)
gnomAD v4
5g.146340048C>TCA447097831POU4F3c.621C>T (p.Asp207=)
5g.146340049G>ACA361621551POU4F3c.622G>A (p.Val208Met)
dbSNP gnomAD v2 gnomAD v4
5g.146340049G>CCA361621554POU4F3c.622G>C (p.Val208Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.146340049G=CA1589086753POU4F3c.622G= (p.Val208=)
5g.146340049G>TCA361621557POU4F3c.622G>T (p.Val208Leu)
gnomAD v4
5g.146340050T>ACA361621561POU4F3c.623T>A (p.Val208Glu)
5g.146340050T>CCA3491172POU4F3c.623T>C (p.Val208Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146340050T>GCA361621563POU4F3c.623T>G (p.Val208Gly)
5g.146340050T=CA1589086754POU4F3c.623T= (p.Val208=)
5g.146340051G>ACA3491173POU4F3c.624G>A (p.Val208=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146340051G>CCA447097835POU4F3c.624G>C (p.Val208=)
5g.146340051G=CA1589086755POU4F3c.624G= (p.Val208=)
5g.146340051G>TCA447097836POU4F3c.624G>T (p.Val208=)
5g.146340052G>ACA361621570POU4F3c.625G>A (p.Gly209Ser)
5g.146340052G>CCA361621567POU4F3c.625G>C (p.Gly209Arg)
5g.146340052G>TCA361621569POU4F3c.625G>T (p.Gly209Cys)
5g.146340053G>ACA361621573POU4F3c.626G>A (p.Gly209Asp)
COSMIC
5g.146340053G>CCA361621575POU4F3c.626G>C (p.Gly209Ala)
5g.146340053G>TCA361621577POU4F3c.626G>T (p.Gly209Val)
gnomAD v4
5g.146340054C>ACA3491174POU4F3c.627C>A (p.Gly209=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146340054C=CA1589086756POU4F3c.627C= (p.Gly209=)
5g.146340054C>GCA447097838POU4F3c.627C>G (p.Gly209=)
5g.146340054C>TCA447097839POU4F3c.627C>T (p.Gly209=)
dbSNP gnomAD v4
5g.146340055G>ACA361621582POU4F3c.628G>A (p.Ala210Thr)
5g.146340055G>CCA361621584POU4F3c.628G>C (p.Ala210Pro)
5g.146340055G>TCA361621587POU4F3c.628G>T (p.Ala210Ser)
5g.146340056C>ACA361621589POU4F3c.629C>A (p.Ala210Glu)
5g.146340056C=CA1589086757POU4F3c.629C= (p.Ala210=)
5g.146340056C>GCA361621592POU4F3c.629C>G (p.Ala210Gly)
dbSNP gnomAD v3 gnomAD v4
5g.146340056C>TCA361621594POU4F3c.629C>T (p.Ala210Val)
dbSNP gnomAD v4
5g.146340057G>ACA3491175POU4F3c.630G>A (p.Ala210=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.146340057G>CCA447097842POU4F3c.630G>C (p.Ala210=)
5g.146340057G=CA1589086758POU4F3c.630G= (p.Ala210=)
5g.146340057G>TCA447097841POU4F3c.630G>T (p.Ala210=)
5g.146340058G>ACA361621601POU4F3c.631G>A (p.Ala211Thr)
5g.146340058G>CCA361621599POU4F3c.631G>C (p.Ala211Pro)
5g.146340058G=CA1589086759POU4F3c.631G= (p.Ala211=)
5g.146340058G>TCA3491176POU4F3c.631G>T (p.Ala211Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146340059C>ACA3491177POU4F3c.632C>A (p.Ala211Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146340059C=CA1589086760POU4F3c.632C= (p.Ala211=)
5g.146340059C>GCA361621605POU4F3c.632C>G (p.Ala211Gly)
5g.146340059C>TCA361621608POU4F3c.632C>T (p.Ala211Val)
gnomAD v4
5g.146340060T>ACA447097843POU4F3c.633T>A (p.Ala211=)
5g.146340060T>CCA447097844POU4F3c.633T>C (p.Ala211=)
5g.146340060T>GCA447097845POU4F3c.633T>G (p.Ala211=)
5g.146340061C>ACA361621610POU4F3c.634C>A (p.Leu212Met)
5g.146340061C=CA1589086761POU4F3c.634C= (p.Leu212=)
5g.146340061C>GCA361621612POU4F3c.634C>G (p.Leu212Val)
5g.146340061C>TCA447097846POU4F3c.634C>T (p.Leu212=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.146340062T>ACA361621620POU4F3c.635T>A (p.Leu212Gln)
5g.146340062T>CCA361621618POU4F3c.635T>C (p.Leu212Pro)
ClinVar dbSNP
5g.146340062T>GCA361621615POU4F3c.635T>G (p.Leu212Arg)
5g.146340062T=CA1589086762POU4F3c.635T= (p.Leu212=)
5g.146340063G>ACA447097850POU4F3c.636G>A (p.Leu212=)
5g.146340063G>CCA447097849POU4F3c.636G>C (p.Leu212=)
5g.146340063G>TCA447097848POU4F3c.636G>T (p.Leu212=)
5g.146340064G>ACA361621623POU4F3c.637G>A (p.Ala213Thr)
5g.146340064G>CCA361621625POU4F3c.637G>C (p.Ala213Pro)
5g.146340064G>TCA361621627POU4F3c.637G>T (p.Ala213Ser)
5g.146340065C>ACA361621631POU4F3c.638C>A (p.Ala213Asp)
5g.146340065C>GCA361621633POU4F3c.638C>G (p.Ala213Gly)
5g.146340065C>TCA361621635POU4F3c.638C>T (p.Ala213Val)
5g.146340066T>ACA447097854POU4F3c.639T>A (p.Ala213=)
5g.146340066T>CCA447097855POU4F3c.639T>C (p.Ala213=)
5g.146340066T>GCA447097856POU4F3c.639T>G (p.Ala213=)
5g.146340067A>CCA361621639POU4F3c.640A>C (p.Asn214His)
5g.146340067A>GCA361621642POU4F3c.640A>G (p.Asn214Asp)
5g.146340067A>TCA361621640POU4F3c.640A>T (p.Asn214Tyr)
5g.146340068A=CA1589086763POU4F3c.641A= (p.Asn214=)
5g.146340068A>CCA361621644POU4F3c.641A>C (p.Asn214Thr)
5g.146340068A>GCA361621645POU4F3c.641A>G (p.Asn214Ser)
dbSNP gnomAD v4
5g.146340068A>TCA361621647POU4F3c.641A>T (p.Asn214Ile)
gnomAD v4
5g.146340069T>ACA361621649POU4F3c.642T>A (p.Asn214Lys)
5g.146340069T>CCA447097859POU4F3c.642T>C (p.Asn214=)
gnomAD v4
5g.146340069T>GCA361621650POU4F3c.642T>G (p.Asn214Lys)
5g.146340070C>ACA361621652POU4F3c.643C>A (p.Leu215Ile)
5g.146340070C>GCA361621654POU4F3c.643C>G (p.Leu215Val)
5g.146340070C>TCA361621657POU4F3c.643C>T (p.Leu215Phe)
COSMIC
5g.146340071T>ACA361621659POU4F3c.644T>A (p.Leu215His)
5g.146340071T>CCA361621662POU4F3c.644T>C (p.Leu215Pro)
5g.146340071T>GCA361621664POU4F3c.644T>G (p.Leu215Arg)
5g.146340072C>ACA447097862POU4F3c.645C>A (p.Leu215=)
5g.146340072C=CA1589086764POU4F3c.645C= (p.Leu215=)
5g.146340072C>GCA447097863POU4F3c.645C>G (p.Leu215=)
ClinVar dbSNP gnomAD v4
5g.146340072C>TCA447097865POU4F3c.645C>T (p.Leu215=)
5g.146340073A=CA1589086765POU4F3c.646A= (p.Lys216=)
5g.146340073A>CCA361621669POU4F3c.646A>C (p.Lys216Gln)
dbSNP gnomAD v2 gnomAD v4
5g.146340073A>GCA361621670POU4F3c.646A>G (p.Lys216Glu)
5g.146340073A>TCA361621667POU4F3c.646A>T (p.Lys216Ter)
5g.146340074A=CA1589086766POU4F3c.647A= (p.Lys216=)
5g.146340074A>CCA361621674POU4F3c.647A>C (p.Lys216Thr)
5g.146340074A>GCA361621682POU4F3c.647A>G (p.Lys216Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146340074A>TCA361621679POU4F3c.647A>T (p.Lys216Met)
5g.146340075G>ACA447097867POU4F3c.648G>A (p.Lys216=)
5g.146340075G>CCA361621685POU4F3c.648G>C (p.Lys216Asn)
5g.146340075G=CA1589086767POU4F3c.648G= (p.Lys216=)
5g.146340075G>TCA361621686POU4F3c.648G>T (p.Lys216Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146340076A>CCA361621690POU4F3c.649A>C (p.Ile217Leu)
5g.146340076A>GCA361621700POU4F3c.649A>G (p.Ile217Val)
5g.146340076A>TCA361621693POU4F3c.649A>T (p.Ile217Phe)
5g.146340077T>ACA361621703POU4F3c.650T>A (p.Ile217Asn)
ClinVar
5g.146340077T>CCA361621706POU4F3c.650T>C (p.Ile217Thr)
5g.146340077T>GCA361621704POU4F3c.650T>G (p.Ile217Ser)
5g.146340078C>ACA447097869POU4F3c.651C>A (p.Ile217=)
5g.146340078C>GCA361621709POU4F3c.651C>G (p.Ile217Met)
5g.146340078C>TCA447097870POU4F3c.651C>T (p.Ile217=)
dbSNP gnomAD v4
5g.146340079C>ACA361621711POU4F3c.652C>A (p.Pro218Thr)
5g.146340079C=CA1589086768POU4F3c.652C= (p.Pro218=)
5g.146340079C>GCA361621713POU4F3c.652C>G (p.Pro218Ala)
5g.146340079C>TCA361621714POU4F3c.652C>T (p.Pro218Ser)
dbSNP gnomAD v3 gnomAD v4
5g.146340080C>ACA361621715POU4F3c.653C>A (p.Pro218His)
5g.146340080C>GCA361621716POU4F3c.653C>G (p.Pro218Arg)
ClinVar
5g.146340080C>TCA361621717POU4F3c.653C>T (p.Pro218Leu)
5g.146340081C>ACA447097874POU4F3c.654C>A (p.Pro218=)
5g.146340081C=CA1589086769POU4F3c.654C= (p.Pro218=)
5g.146340081C>GCA447097875POU4F3c.654C>G (p.Pro218=)
5g.146340081C>TCA3491178POU4F3c.654C>T (p.Pro218=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146340082G>ACA361621721POU4F3c.655G>A (p.Gly219Ser)
gnomAD v4
5g.146340082G>CCA361621723POU4F3c.655G>C (p.Gly219Arg)
ClinVar dbSNP gnomAD v4
5g.146340082G=CA1589086770POU4F3c.655G= (p.Gly219=)
5g.146340082G>TCA361621724POU4F3c.655G>T (p.Gly219Cys)
dbSNP
5g.146340083G>ACA361621730POU4F3c.656G>A (p.Gly219Asp)
5g.146340083G>CCA361621728POU4F3c.656G>C (p.Gly219Ala)
5g.146340083G>TCA361621726POU4F3c.656G>T (p.Gly219Val)
5g.146340084C>ACA447097876POU4F3c.657C>A (p.Gly219=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146340084C=CA1589086771POU4F3c.657C= (p.Gly219=)
5g.146340084C>GCA447097877POU4F3c.657C>G (p.Gly219=)
dbSNP gnomAD v4
5g.146340084C>TCA447097878POU4F3c.657C>T (p.Gly219=)
gnomAD v4
5g.146340085G>ACA3491179POU4F3c.658G>A (p.Val220Met)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.146340085G>CCA361621733POU4F3c.658G>C (p.Val220Leu)
5g.146340085G=CA1589086772POU4F3c.658G= (p.Val220=)
5g.146340085G>TCA361621736POU4F3c.658G>T (p.Val220Leu)
5g.146340086T>ACA361621739POU4F3c.659T>A (p.Val220Glu)
5g.146340086T>CCA361621741POU4F3c.659T>C (p.Val220Ala)
5g.146340086T>GCA361621743POU4F3c.659T>G (p.Val220Gly)
5g.146340087G>ACA447097883POU4F3c.660G>A (p.Val220=)
gnomAD v4 COSMIC
5g.146340087G>CCA447097884POU4F3c.660G>C (p.Val220=)
5g.146340087G>TCA447097885POU4F3c.660G>T (p.Val220=)
5g.146340088G>ACA3491180POU4F3c.661G>A (p.Gly221Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146340088G>CCA361621745POU4F3c.661G>C (p.Gly221Arg)
5g.146340088G=CA1589086774POU4F3c.661G= (p.Gly221=)
5g.146340088G>TCA361621748POU4F3c.661G>T (p.Gly221Cys)
5g.146340088_146340102delinsGGCTCGCTGAGCCAACA1589086773POU4F3c.661_675delinsGGCTCGCTGAGCCAA (p.Gly221=)
5g.146340089G>ACA361621751POU4F3c.662G>A (p.Gly221Asp)
dbSNP gnomAD v4
5g.146340089G>CCA361621754POU4F3c.662G>C (p.Gly221Ala)
5g.146340089G=CA1589086775POU4F3c.662G= (p.Gly221=)
5g.146340089G>TCA361621756POU4F3c.662G>T (p.Gly221Val)
5g.146340089_146340102delCA16616765POU4F3c.662_675del (p.Gly221GlufsTer?)
ClinVar dbSNP

Number of alleles fetched