Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.146339673_146340072delinsGGCA2573139233POU4F3c.246_645delinsGG (p.Met83GlufsTer?)
ClinVar dbSNP
5g.146339881A>CCA361620732POU4F3c.454A>C (p.Met152Leu)
5g.146339881A>GCA361620733POU4F3c.454A>G (p.Met152Val)
5g.146339881A>TCA361620734POU4F3c.454A>T (p.Met152Leu)
5g.146339882T>ACA361620735POU4F3c.455T>A (p.Met152Lys)
5g.146339882T>CCA361620736POU4F3c.455T>C (p.Met152Thr)
5g.146339882T>GCA361620737POU4F3c.455T>G (p.Met152Arg)
5g.146339883G>ACA361620738POU4F3c.456G>A (p.Met152Ile)
5g.146339883G>CCA361620739POU4F3c.456G>C (p.Met152Ile)
5g.146339883G>TCA361620740POU4F3c.456G>T (p.Met152Ile)
gnomAD v4
5g.146339885dupCA2578641130POU4F3c.458dup (p.His154ProfsTer18)
5g.146339884G>ACA361620741POU4F3c.457G>A (p.Gly153Ser)
gnomAD v4
5g.146339884G>CCA361620742POU4F3c.457G>C (p.Gly153Arg)
5g.146339884G=CA1589086667POU4F3c.457G= (p.Gly153=)
5g.146339884G>TCA361620743POU4F3c.457G>T (p.Gly153Cys)
dbSNP gnomAD v2 gnomAD v4
5g.146339885G>ACA361620746POU4F3c.458G>A (p.Gly153Asp)
gnomAD v4
5g.146339885G>CCA361620745POU4F3c.458G>C (p.Gly153Ala)
5g.146339885G>TCA361620744POU4F3c.458G>T (p.Gly153Val)
gnomAD v4
5g.146339886C>ACA447097683POU4F3c.459C>A (p.Gly153=)
gnomAD v4
5g.146339886C=CA1589086668POU4F3c.459C= (p.Gly153=)
5g.146339886C>GCA447097684POU4F3c.459C>G (p.Gly153=)
5g.146339886C>TCA447097685POU4F3c.459C>T (p.Gly153=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339887C>ACA361620748POU4F3c.460C>A (p.His154Asn)
gnomAD v4
5g.146339887C>GCA361620747POU4F3c.460C>G (p.His154Asp)
5g.146339887C>TCA361620749POU4F3c.460C>T (p.His154Tyr)
ClinVar
5g.146339888A>CCA361620750POU4F3c.461A>C (p.His154Pro)
5g.146339888A>GCA361620751POU4F3c.461A>G (p.His154Arg)
5g.146339888A>TCA361620752POU4F3c.461A>T (p.His154Leu)
5g.146339889C>ACA361620753POU4F3c.462C>A (p.His154Gln)
5g.146339889C=CA1589086669POU4F3c.462C= (p.His154=)
5g.146339889C>GCA3491137POU4F3c.462C>G (p.His154Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339889C>TCA447097686POU4F3c.462C>T (p.His154=)
5g.146339890C>ACA361620754POU4F3c.463C>A (p.Leu155Met)
gnomAD v4
5g.146339890C>GCA361620755POU4F3c.463C>G (p.Leu155Val)
5g.146339890C>TCA447097687POU4F3c.463C>T (p.Leu155=)
gnomAD v4
5g.146339891T>ACA361620756POU4F3c.464T>A (p.Leu155Gln)
5g.146339891T>CCA3491138POU4F3c.464T>C (p.Leu155Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339891T>GCA361620757POU4F3c.464T>G (p.Leu155Arg)
5g.146339891T=CA1589086670POU4F3c.464T= (p.Leu155=)
5g.146339892G>ACA447097688POU4F3c.465G>A (p.Leu155=)
dbSNP gnomAD v2 gnomAD v4
5g.146339892G>CCA447097689POU4F3c.465G>C (p.Leu155=)
5g.146339892G=CA1589086671POU4F3c.465G= (p.Leu155=)
5g.146339892G>TCA447097690POU4F3c.465G>T (p.Leu155=)
gnomAD v4
5g.146339893C>ACA361620758POU4F3c.466C>A (p.His156Asn)
gnomAD v4
5g.146339893C=CA1589086672POU4F3c.466C= (p.His156=)
5g.146339893C>GCA361620759POU4F3c.466C>G (p.His156Asp)
5g.146339893C>TCA128860803POU4F3c.466C>T (p.His156Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339894A>CCA361620760POU4F3c.467A>C (p.His156Pro)
5g.146339894A>GCA361620762POU4F3c.467A>G (p.His156Arg)
5g.146339894A>TCA361620761POU4F3c.467A>T (p.His156Leu)
5g.146339895C>ACA361620763POU4F3c.468C>A (p.His156Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339895C=CA1589086673POU4F3c.468C= (p.His156=)
5g.146339895C>GCA3491139POU4F3c.468C>G (p.His156Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339895C>TCA447097691POU4F3c.468C>T (p.His156=)
5g.146339896C>ACA361620764POU4F3c.469C>A (p.Gln157Lys)
dbSNP gnomAD v2 gnomAD v4
5g.146339896C=CA1589086674POU4F3c.469C= (p.Gln157=)
5g.146339896C>GCA361620765POU4F3c.469C>G (p.Gln157Glu)
5g.146339896C>TCA361620766POU4F3c.469C>T (p.Gln157Ter)
5g.146339897A>CCA361620767POU4F3c.470A>C (p.Gln157Pro)
5g.146339897A>GCA361620768POU4F3c.470A>G (p.Gln157Arg)
5g.146339897A>TCA361620769POU4F3c.470A>T (p.Gln157Leu)
5g.146339898G>ACA447097692POU4F3c.471G>A (p.Gln157=)
5g.146339898G>CCA361620770POU4F3c.471G>C (p.Gln157His)
5g.146339898G>TCA361620771POU4F3c.471G>T (p.Gln157His)
gnomAD v4
5g.146339899G>ACA361620773POU4F3c.472G>A (p.Ala158Thr)
5g.146339899G>CCA361620774POU4F3c.472G>C (p.Ala158Pro)
5g.146339899G>TCA361620772POU4F3c.472G>T (p.Ala158Ser)
gnomAD v4
5g.146339900C>ACA361620775POU4F3c.473C>A (p.Ala158Asp)
5g.146339900C=CA1589086675POU4F3c.473C= (p.Ala158=)
5g.146339900C>GCA361620776POU4F3c.473C>G (p.Ala158Gly)
5g.146339900C>TCA361620777POU4F3c.473C>T (p.Ala158Val)
dbSNP gnomAD v3 gnomAD v4
5g.146339901C>ACA447097693POU4F3c.474C>A (p.Ala158=)
gnomAD v4
5g.146339901C>GCA447097694POU4F3c.474C>G (p.Ala158=)
5g.146339901C>TCA447097695POU4F3c.474C>T (p.Ala158=)
5g.146339902A=CA1589086676POU4F3c.475A= (p.Met159=)
5g.146339902A>CCA361620778POU4F3c.475A>C (p.Met159Leu)
5g.146339902A>GCA3491140POU4F3c.475A>G (p.Met159Val)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339902A>TCA361620779POU4F3c.475A>T (p.Met159Leu)
5g.146339903T>ACA361620780POU4F3c.476T>A (p.Met159Lys)
5g.146339903T>CCA361620781POU4F3c.476T>C (p.Met159Thr)
gnomAD v4
5g.146339903T>GCA361620782POU4F3c.476T>G (p.Met159Arg)
5g.146339904G>ACA128860807POU4F3c.477G>A (p.Met159Ile)
dbSNP gnomAD v4
5g.146339904G>CCA361620783POU4F3c.477G>C (p.Met159Ile)
5g.146339904G=CA1589086677POU4F3c.477G= (p.Met159=)
5g.146339904G>TCA361620784POU4F3c.477G>T (p.Met159Ile)
gnomAD v4
5g.146339906delCA2580073020POU4F3c.479del (p.Gly160AlafsTer2)
ClinVar
5g.146339905G>ACA361620786POU4F3c.478G>A (p.Gly160Ser)
dbSNP gnomAD v3 gnomAD v4
5g.146339905G>CCA361620787POU4F3c.478G>C (p.Gly160Arg)
5g.146339905G=CA1589086678POU4F3c.478G= (p.Gly160=)
5g.146339905G>TCA361620785POU4F3c.478G>T (p.Gly160Cys)
gnomAD v4
5g.146339906G>ACA361620788POU4F3c.479G>A (p.Gly160Asp)
dbSNP gnomAD v4
5g.146339906G>CCA361620789POU4F3c.479G>C (p.Gly160Ala)
dbSNP gnomAD v2 gnomAD v4
5g.146339906G=CA1589086679POU4F3c.479G= (p.Gly160=)
5g.146339906G>TCA361620790POU4F3c.479G>T (p.Gly160Val)
dbSNP gnomAD v2 gnomAD v4
5g.146339907C>ACA447097696POU4F3c.480C>A (p.Gly160=)
5g.146339907C>GCA447097697POU4F3c.480C>G (p.Gly160=)
5g.146339907C>TCA447097698POU4F3c.480C>T (p.Gly160=)
5g.146339908A>CCA361620791POU4F3c.481A>C (p.Met161Leu)
5g.146339908A>GCA361620792POU4F3c.481A>G (p.Met161Val)
gnomAD v4
5g.146339908A>TCA361620793POU4F3c.481A>T (p.Met161Leu)
gnomAD v4
5g.146339909T>ACA361620796POU4F3c.482T>A (p.Met161Lys)
5g.146339909T>CCA361620794POU4F3c.482T>C (p.Met161Thr)
gnomAD v4
5g.146339909T>GCA361620795POU4F3c.482T>G (p.Met161Arg)
5g.146339910G>ACA361620797POU4F3c.483G>A (p.Met161Ile)
gnomAD v4
5g.146339910G>CCA361620798POU4F3c.483G>C (p.Met161Ile)
gnomAD v4
5g.146339910G>TCA361620799POU4F3c.483G>T (p.Met161Ile)
gnomAD v4
5g.146339911A=CA1589086680POU4F3c.484A= (p.Ser162=)
5g.146339911A>CCA361620800POU4F3c.484A>C (p.Ser162Arg)
5g.146339911A>GCA3491141POU4F3c.484A>G (p.Ser162Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339911A>TCA361620801POU4F3c.484A>T (p.Ser162Cys)
5g.146339912G>ACA361620803POU4F3c.485G>A (p.Ser162Asn)
5g.146339912G>CCA361620804POU4F3c.485G>C (p.Ser162Thr)
5g.146339912G>TCA361620802POU4F3c.485G>T (p.Ser162Ile)
gnomAD v4
5g.146339913T>ACA361620805POU4F3c.486T>A (p.Ser162Arg)
5g.146339913T>CCA447097703POU4F3c.486T>C (p.Ser162=)
5g.146339913T>GCA361620806POU4F3c.486T>G (p.Ser162Arg)
5g.146339914C>ACA361620807POU4F3c.487C>A (p.His163Asn)
5g.146339914C>GCA361620808POU4F3c.487C>G (p.His163Asp)
5g.146339914C>TCA361620809POU4F3c.487C>T (p.His163Tyr)
5g.146339915delCA2695205584POU4F3c.488del (p.His163ProfsTer?)
5g.146339915A>CCA361620810POU4F3c.488A>C (p.His163Pro)
5g.146339915A>GCA361620811POU4F3c.488A>G (p.His163Arg)
5g.146339915A>TCA361620812POU4F3c.488A>T (p.His163Leu)
5g.146339916C>ACA361620813POU4F3c.489C>A (p.His163Gln)
gnomAD v4
5g.146339916C=CA1589086681POU4F3c.489C= (p.His163=)
5g.146339916C>GCA361620814POU4F3c.489C>G (p.His163Gln)
gnomAD v4
5g.146339916C>TCA3491142POU4F3c.489C>T (p.His163=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339918delCA2675813846POU4F3c.491del (p.Pro164ArgfsTer?)
gnomAD v4
5g.146339917C>ACA3491143POU4F3c.490C>A (p.Pro164Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339917C=CA1589086682POU4F3c.490C= (p.Pro164=)
5g.146339917C>GCA361620815POU4F3c.490C>G (p.Pro164Ala)
5g.146339917C>TCA182494POU4F3c.490C>T (p.Pro164Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339918C>ACA361620816POU4F3c.491C>A (p.Pro164Gln)
5g.146339918C=CA1589086683POU4F3c.491C= (p.Pro164=)
5g.146339918C>GCA3491144POU4F3c.491C>G (p.Pro164Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339918C>TCA177657POU4F3c.491C>T (p.Pro164Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339919_146339920delCA2561569132POU4F3c.492_493del (p.Thr166ArgfsTer5)
5g.146339919G>ACA447097706POU4F3c.492G>A (p.Pro164=)
gnomAD v4 COSMIC
5g.146339919G>CCA447097707POU4F3c.492G>C (p.Pro164=)
5g.146339919G=CA1589086684POU4F3c.492G= (p.Pro164=)
5g.146339919G>TCA3491145POU4F3c.492G>T (p.Pro164=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339920C>ACA361620817POU4F3c.493C>A (p.His165Asn)
5g.146339920C>GCA361620818POU4F3c.493C>G (p.His165Asp)
5g.146339920C>TCA361620819POU4F3c.493C>T (p.His165Tyr)
5g.146339921_146339924delCA2740094128POU4F3c.494_497del (p.His165ProfsTer?)
ClinVar
5g.146339921A>CCA361620820POU4F3c.494A>C (p.His165Pro)
5g.146339921A>GCA361620821POU4F3c.494A>G (p.His165Arg)
gnomAD v4
5g.146339921A>TCA361620822POU4F3c.494A>T (p.His165Leu)
5g.146339922C>ACA361620823POU4F3c.495C>A (p.His165Gln)
5g.146339922C=CA1589086685POU4F3c.495C= (p.His165=)
5g.146339922C>GCA361620824POU4F3c.495C>G (p.His165Gln)
5g.146339922C>TCA447097709POU4F3c.495C>T (p.His165=)
dbSNP gnomAD v4
5g.146339923A>CCA361620825POU4F3c.496A>C (p.Thr166Pro)
5g.146339923A>GCA361620826POU4F3c.496A>G (p.Thr166Ala)
5g.146339923A>TCA361620828POU4F3c.496A>T (p.Thr166Ser)
5g.146339923_146339924insTGCA2503274518POU4F3c.496_497insTG (p.Thr166MetfsTer?)
5g.146339924C>ACA361620832POU4F3c.497C>A (p.Thr166Asn)
5g.146339924C=CA1589086686POU4F3c.497C= (p.Thr166=)
5g.146339924C>GCA128860829POU4F3c.497C>G (p.Thr166Ser)
dbSNP
5g.146339924C>TCA361620830POU4F3c.497C>T (p.Thr166Ile)
5g.146339925C>ACA447097711POU4F3c.498C>A (p.Thr166=)
5g.146339925C=CA1589086687POU4F3c.498C= (p.Thr166=)
5g.146339925C>GCA447097712POU4F3c.498C>G (p.Thr166=)
dbSNP gnomAD v3 gnomAD v4
5g.146339925C>TCA3491146POU4F3c.498C>T (p.Thr166=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339926G>ACA361620836POU4F3c.499G>A (p.Val167Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.146339926G>CCA361620837POU4F3c.499G>C (p.Val167Leu)
5g.146339926G=CA1589086688POU4F3c.499G= (p.Val167=)
5g.146339926G>TCA128860854POU4F3c.499G>T (p.Val167Leu)
dbSNP
5g.146339927T>ACA361620841POU4F3c.500T>A (p.Val167Glu)
5g.146339927T>CCA361620842POU4F3c.500T>C (p.Val167Ala)
5g.146339927T>GCA361620843POU4F3c.500T>G (p.Val167Gly)
5g.146339927_146339928delinsTGCA1589086689POU4F3c.500_501delinsTG (p.Val167=)
5g.146339928G>ACA447097717POU4F3c.501G>A (p.Val167=)
dbSNP gnomAD v2 gnomAD v4
5g.146339928G>CCA447097714POU4F3c.501G>C (p.Val167=)
5g.146339928G=CA1589086690POU4F3c.501G= (p.Val167=)
5g.146339928G>TCA447097716POU4F3c.501G>T (p.Val167=)
gnomAD v4
5g.146339929delCA3491147POU4F3c.502del (p.Ala168ProfsTer?)
ClinVar dbSNP ExAC
5g.146339929G>ACA361620852POU4F3c.502G>A (p.Ala168Thr)
gnomAD v4
5g.146339929G>CCA361620856POU4F3c.502G>C (p.Ala168Pro)
5g.146339929G>TCA361620854POU4F3c.502G>T (p.Ala168Ser)
gnomAD v4
5g.146339929_146339930delinsGCCA1589086691POU4F3c.502_503delinsGC (p.Ala168=)
5g.146339930C>ACA361620858POU4F3c.503C>A (p.Ala168Asp)
5g.146339930C=CA1589086693POU4F3c.503C= (p.Ala168=)
5g.146339930C>GCA361620859POU4F3c.503C>G (p.Ala168Gly)
5g.146339930C>TCA361620862POU4F3c.503C>T (p.Ala168Val)
dbSNP gnomAD v2 gnomAD v4
5g.146339933delCA1589086692POU4F3c.506del (p.Pro169LeufsTer?)
dbSNP
5g.146339931C>ACA447097719POU4F3c.504C>A (p.Ala168=)
5g.146339931C>GCA447097720POU4F3c.504C>G (p.Ala168=)
5g.146339931C>TCA447097721POU4F3c.504C>T (p.Ala168=)
gnomAD v4
5g.146339932C>ACA361620864POU4F3c.505C>A (p.Pro169Thr)
5g.146339932C=CA1589086694POU4F3c.505C= (p.Pro169=)
5g.146339932C>GCA3491148POU4F3c.505C>G (p.Pro169Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339932C>TCA3491149POU4F3c.505C>T (p.Pro169Ser)
dbSNP ExAC gnomAD v2
5g.146339933C>ACA361620868POU4F3c.506C>A (p.Pro169His)
5g.146339933C>GCA361620870POU4F3c.506C>G (p.Pro169Arg)
5g.146339933C>TCA361620872POU4F3c.506C>T (p.Pro169Leu)
gnomAD v4
5g.146339933_146339934insACA2578641131POU4F3c.506_507insA (p.His170SerfsTer2)
5g.146339934T>ACA447097723POU4F3c.507T>A (p.Pro169=)
gnomAD v4
5g.146339934T>CCA447097724POU4F3c.507T>C (p.Pro169=)
5g.146339934T>GCA447097725POU4F3c.507T>G (p.Pro169=)
5g.146339935C>ACA361620874POU4F3c.508C>A (p.His170Asn)
5g.146339935C=CA1589086695POU4F3c.508C= (p.His170=)
5g.146339935C>GCA361620876POU4F3c.508C>G (p.His170Asp)
5g.146339935C>TCA361620878POU4F3c.508C>T (p.His170Tyr)
ClinVar dbSNP gnomAD v2 COSMIC
5g.146339936A=CA1589086696POU4F3c.509A= (p.His170=)
5g.146339936A>CCA361620880POU4F3c.509A>C (p.His170Pro)
dbSNP gnomAD v4
5g.146339936A>GCA3491150POU4F3c.509A>G (p.His170Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339936A>TCA361620883POU4F3c.509A>T (p.His170Leu)
5g.146339937T>ACA361620886POU4F3c.510T>A (p.His170Gln)
5g.146339937T>CCA447097727POU4F3c.510T>C (p.His170=)
5g.146339937T>GCA361620887POU4F3c.510T>G (p.His170Gln)
5g.146339938A>CCA361620892POU4F3c.511A>C (p.Ser171Arg)
5g.146339938A>GCA361620893POU4F3c.511A>G (p.Ser171Gly)
5g.146339938A>TCA361620890POU4F3c.511A>T (p.Ser171Cys)
5g.146339939G>ACA361620895POU4F3c.512G>A (p.Ser171Asn)
5g.146339939G>CCA361620899POU4F3c.512G>C (p.Ser171Thr)
5g.146339939G>TCA361620897POU4F3c.512G>T (p.Ser171Ile)
gnomAD v4
5g.146339940C>ACA3491151POU4F3c.513C>A (p.Ser171Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339940C=CA1589086697POU4F3c.513C= (p.Ser171=)
5g.146339940C>GCA361620901POU4F3c.513C>G (p.Ser171Arg)
5g.146339940C>TCA3491152POU4F3c.513C>T (p.Ser171=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339941G>ACA361620903POU4F3c.514G>A (p.Ala172Thr)
dbSNP gnomAD v2 gnomAD v4
5g.146339941G>CCA361620905POU4F3c.514G>C (p.Ala172Pro)
dbSNP gnomAD v3 gnomAD v4
5g.146339941G=CA1589086698POU4F3c.514G= (p.Ala172=)
5g.146339941G>TCA3491153POU4F3c.514G>T (p.Ala172Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339942C>ACA361620909POU4F3c.515C>A (p.Ala172Asp)
5g.146339942C=CA1589086699POU4F3c.515C= (p.Ala172=)
5g.146339942C>GCA361620911POU4F3c.515C>G (p.Ala172Gly)
dbSNP
5g.146339942C>TCA3491154POU4F3c.515C>T (p.Ala172Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339943C>ACA447097730POU4F3c.516C>A (p.Ala172=)
5g.146339943C>GCA447097731POU4F3c.516C>G (p.Ala172=)
5g.146339943C>TCA447097732POU4F3c.516C>T (p.Ala172=)
gnomAD v4
5g.146339944A=CA1589086700POU4F3c.517A= (p.Met173=)
5g.146339944A>CCA361620913POU4F3c.517A>C (p.Met173Leu)
dbSNP
5g.146339944A>GCA361620915POU4F3c.517A>G (p.Met173Val)
5g.146339944A>TCA3491155POU4F3c.517A>T (p.Met173Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339945T>ACA361620917POU4F3c.518T>A (p.Met173Lys)
5g.146339945T>CCA361620921POU4F3c.518T>C (p.Met173Thr)
5g.146339945T>GCA361620919POU4F3c.518T>G (p.Met173Arg)
5g.146339946G>ACA361620923POU4F3c.519G>A (p.Met173Ile)
5g.146339946G>CCA361620925POU4F3c.519G>C (p.Met173Ile)
5g.146339946G>TCA361620927POU4F3c.519G>T (p.Met173Ile)
gnomAD v4
5g.146339947C>ACA361620930POU4F3c.520C>A (p.Pro174Thr)
gnomAD v4
5g.146339947C=CA1589086701POU4F3c.520C= (p.Pro174=)
5g.146339947C>GCA361620932POU4F3c.520C>G (p.Pro174Ala)
dbSNP gnomAD v2 gnomAD v4
5g.146339947C>TCA3491156POU4F3c.520C>T (p.Pro174Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339948C>ACA128860901POU4F3c.521C>A (p.Pro174His)
dbSNP
5g.146339948C=CA1589086702POU4F3c.521C= (p.Pro174=)
5g.146339948C>GCA361620935POU4F3c.521C>G (p.Pro174Arg)
5g.146339948C>TCA361620937POU4F3c.521C>T (p.Pro174Leu)
gnomAD v4
5g.146339949T>ACA447097735POU4F3c.522T>A (p.Pro174=)
5g.146339949T>CCA447097738POU4F3c.522T>C (p.Pro174=)
5g.146339949T>GCA447097740POU4F3c.522T>G (p.Pro174=)
5g.146339950G>ACA361620943POU4F3c.523G>A (p.Ala175Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339950G>CCA361620945POU4F3c.523G>C (p.Ala175Pro)
5g.146339950G=CA1589086703POU4F3c.523G= (p.Ala175=)
5g.146339950G>TCA361620940POU4F3c.523G>T (p.Ala175Ser)
gnomAD v4
5g.146339951C>ACA361620947POU4F3c.524C>A (p.Ala175Glu)
5g.146339951C>GCA361620950POU4F3c.524C>G (p.Ala175Gly)
5g.146339951C>TCA361620953POU4F3c.524C>T (p.Ala175Val)
gnomAD v4
5g.146339952A>CCA447097744POU4F3c.525A>C (p.Ala175=)
5g.146339952A>GCA447097746POU4F3c.525A>G (p.Ala175=)
ClinVar gnomAD v4
5g.146339952A>TCA447097742POU4F3c.525A>T (p.Ala175=)
5g.146339953T>ACA361620955POU4F3c.526T>A (p.Cys176Ser)
5g.146339953T>CCA361620957POU4F3c.526T>C (p.Cys176Arg)
gnomAD v4
5g.146339953T>GCA3491157POU4F3c.526T>G (p.Cys176Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339953T=CA1589086704POU4F3c.526T= (p.Cys176=)
5g.146339954G>ACA3491158POU4F3c.527G>A (p.Cys176Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339954G>CCA361620962POU4F3c.527G>C (p.Cys176Ser)
5g.146339954G=CA1589086705POU4F3c.527G= (p.Cys176=)
5g.146339954G>TCA361620965POU4F3c.527G>T (p.Cys176Phe)
gnomAD v4
5g.146339955C>ACA361620969POU4F3c.528C>A (p.Cys176Ter)
5g.146339955C>GCA361620972POU4F3c.528C>G (p.Cys176Trp)
5g.146339955C>TCA447097748POU4F3c.528C>T (p.Cys176=)
5g.146339956C>ACA361620974POU4F3c.529C>A (p.Leu177Ile)
5g.146339956C>GCA361620977POU4F3c.529C>G (p.Leu177Val)
5g.146339956C>TCA361620979POU4F3c.529C>T (p.Leu177Phe)
5g.146339957T>ACA361620982POU4F3c.530T>A (p.Leu177His)
5g.146339957T>CCA3491159POU4F3c.530T>C (p.Leu177Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339957T>GCA361620983POU4F3c.530T>G (p.Leu177Arg)
5g.146339957T=CA1589086706POU4F3c.530T= (p.Leu177=)
5g.146339958C>ACA447097752POU4F3c.531C>A (p.Leu177=)
5g.146339958C>GCA447097751POU4F3c.531C>G (p.Leu177=)
gnomAD v4
5g.146339958C>TCA447097750POU4F3c.531C>T (p.Leu177=)
5g.146339959A>CCA361620988POU4F3c.532A>C (p.Ser178Arg)
5g.146339959A>GCA361620991POU4F3c.532A>G (p.Ser178Gly)
5g.146339959A>TCA361620993POU4F3c.532A>T (p.Ser178Cys)
5g.146339960G>ACA361620995POU4F3c.533G>A (p.Ser178Asn)
5g.146339960G>CCA3491160POU4F3c.533G>C (p.Ser178Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339960G=CA1589086707POU4F3c.533G= (p.Ser178=)
5g.146339960G>TCA361621000POU4F3c.533G>T (p.Ser178Ile)
dbSNP gnomAD v2 gnomAD v4
5g.146339961C>ACA361621003POU4F3c.534C>A (p.Ser178Arg)
5g.146339961C>GCA361621005POU4F3c.534C>G (p.Ser178Arg)
5g.146339961C>TCA447097755POU4F3c.534C>T (p.Ser178=)
gnomAD v4
5g.146339962G>ACA361621009POU4F3c.535G>A (p.Asp179Asn)
dbSNP gnomAD v3 gnomAD v4
5g.146339962G>CCA361621011POU4F3c.535G>C (p.Asp179His)
5g.146339962G=CA1589086708POU4F3c.535G= (p.Asp179=)
5g.146339962G>TCA361621013POU4F3c.535G>T (p.Asp179Tyr)
gnomAD v4
5g.146339963A>CCA361621021POU4F3c.536A>C (p.Asp179Ala)
5g.146339963A>GCA361621020POU4F3c.536A>G (p.Asp179Gly)
5g.146339963A>TCA361621017POU4F3c.536A>T (p.Asp179Val)
5g.146339964C>ACA361621025POU4F3c.537C>A (p.Asp179Glu)
ClinVar dbSNP gnomAD v4
5g.146339964C>GCA361621028POU4F3c.537C>G (p.Asp179Glu)
5g.146339964C>TCA447097758POU4F3c.537C>T (p.Asp179=)
COSMIC
5g.146339965G>ACA361621031POU4F3c.538G>A (p.Val180Met)
gnomAD v4
5g.146339965G>CCA361621034POU4F3c.538G>C (p.Val180Leu)
5g.146339965G=CA1589086709POU4F3c.538G= (p.Val180=)
5g.146339965G>TCA361621036POU4F3c.538G>T (p.Val180Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.146339966T>ACA361621038POU4F3c.539T>A (p.Val180Glu)
5g.146339966T>CCA361621041POU4F3c.539T>C (p.Val180Ala)
5g.146339966T>GCA361621044POU4F3c.539T>G (p.Val180Gly)
dbSNP gnomAD v2 gnomAD v4
5g.146339966T=CA1589086710POU4F3c.539T= (p.Val180=)
5g.146339967G>ACA447097760POU4F3c.540G>A (p.Val180=)
5g.146339967G>CCA447097761POU4F3c.540G>C (p.Val180=)
5g.146339967G>TCA447097762POU4F3c.540G>T (p.Val180=)
gnomAD v4
5g.146339968G>ACA361621047POU4F3c.541G>A (p.Glu181Lys)
gnomAD v4
5g.146339968G>CCA128860937POU4F3c.541G>C (p.Glu181Gln)
ClinVar dbSNP gnomAD v4
5g.146339968G=CA1589086711POU4F3c.541G= (p.Glu181=)
5g.146339968G>TCA361621050POU4F3c.541G>T (p.Glu181Ter)
gnomAD v4
5g.146339969A>CCA361621053POU4F3c.542A>C (p.Glu181Ala)
5g.146339969A>GCA361621055POU4F3c.542A>G (p.Glu181Gly)
5g.146339969A>TCA361621058POU4F3c.542A>T (p.Glu181Val)
5g.146339970G>ACA3491161POU4F3c.543G>A (p.Glu181=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339970G>CCA361621062POU4F3c.543G>C (p.Glu181Asp)
5g.146339970G=CA1589086712POU4F3c.543G= (p.Glu181=)
5g.146339970G>TCA361621059POU4F3c.543G>T (p.Glu181Asp)
5g.146339971T>ACA361621066POU4F3c.544T>A (p.Ser182Thr)
5g.146339971T>CCA361621068POU4F3c.544T>C (p.Ser182Pro)
5g.146339971T>GCA361621071POU4F3c.544T>G (p.Ser182Ala)
5g.146339972C>ACA361621074POU4F3c.545C>A (p.Ser182Ter)
5g.146339972C=CA1589086713POU4F3c.545C= (p.Ser182=)
5g.146339972C>GCA361621077POU4F3c.545C>G (p.Ser182Ter)
ClinVar dbSNP
5g.146339972C>TCA361621079POU4F3c.545C>T (p.Ser182Leu)
dbSNP gnomAD v2 gnomAD v4
5g.146339973A>CCA447097767POU4F3c.546A>C (p.Ser182=)
ClinVar
5g.146339973A>GCA447097766POU4F3c.546A>G (p.Ser182=)
5g.146339973A>TCA447097764POU4F3c.546A>T (p.Ser182=)
5g.146339974G>ACA361621083POU4F3c.547G>A (p.Asp183Asn)
5g.146339974G>CCA361621085POU4F3c.547G>C (p.Asp183His)
ClinVar dbSNP gnomAD v4
5g.146339974G=CA1589086714POU4F3c.547G= (p.Asp183=)
5g.146339974G>TCA361621087POU4F3c.547G>T (p.Asp183Tyr)
5g.146339975A>CCA361621090POU4F3c.548A>C (p.Asp183Ala)
5g.146339975A>GCA361621092POU4F3c.548A>G (p.Asp183Gly)
5g.146339975A>TCA361621093POU4F3c.548A>T (p.Asp183Val)
gnomAD v4
5g.146339976C>ACA3491162POU4F3c.549C>A (p.Asp183Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339976C=CA1589086715POU4F3c.549C= (p.Asp183=)
5g.146339976C>GCA361621098POU4F3c.549C>G (p.Asp183Glu)
5g.146339976C>TCA447097770POU4F3c.549C>T (p.Asp183=)
dbSNP
5g.146339977C>ACA361621105POU4F3c.550C>A (p.Pro184Thr)
gnomAD v4
5g.146339977C>GCA361621102POU4F3c.550C>G (p.Pro184Ala)
5g.146339977C>TCA361621100POU4F3c.550C>T (p.Pro184Ser)
COSMIC
5g.146339978C>ACA361621106POU4F3c.551C>A (p.Pro184Gln)
5g.146339978C=CA1589086716POU4F3c.551C= (p.Pro184=)
5g.146339978C>GCA361621110POU4F3c.551C>G (p.Pro184Arg)
5g.146339978C>TCA3491163POU4F3c.551C>T (p.Pro184Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339979G>ACA447097773POU4F3c.552G>A (p.Pro184=)
gnomAD v4 COSMIC
5g.146339979G>CCA447097775POU4F3c.552G>C (p.Pro184=)
5g.146339979G>TCA447097774POU4F3c.552G>T (p.Pro184=)
gnomAD v4
5g.146339980C>ACA361621114POU4F3c.553C>A (p.Arg185Ser)
5g.146339980C=CA1589086717POU4F3c.553C= (p.Arg185=)
5g.146339980C>GCA3491165POU4F3c.553C>G (p.Arg185Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339980C>TCA3491164POU4F3c.553C>T (p.Arg185Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339981G>ACA361621121POU4F3c.554G>A (p.Arg185His)
gnomAD v4 COSMIC
5g.146339981G>CCA361621122POU4F3c.554G>C (p.Arg185Pro)
5g.146339981G>TCA361621124POU4F3c.554G>T (p.Arg185Leu)
gnomAD v4

Number of alleles fetched