Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.146339673_146340072delinsGGCA2573139233POU4F3c.246_645delinsGG (p.Met83GlufsTer?)
ClinVar dbSNP
5g.146339833G>ACA3491123POU4F3c.406G>A (p.Glu136Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339833G>CCA361620631POU4F3c.406G>C (p.Glu136Gln)
ClinVar
5g.146339833G=CA1589086640POU4F3c.406G= (p.Glu136=)
5g.146339833G>TCA361620632POU4F3c.406G>T (p.Glu136Ter)
gnomAD v4
5g.146339834A>CCA361620633POU4F3c.407A>C (p.Glu136Ala)
5g.146339834A>GCA361620634POU4F3c.407A>G (p.Glu136Gly)
5g.146339834A>TCA361620635POU4F3c.407A>T (p.Glu136Val)
5g.146339835A>CCA361620636POU4F3c.408A>C (p.Glu136Asp)
5g.146339835A>GCA447097654POU4F3c.408A>G (p.Glu136=)
5g.146339835A>TCA361620637POU4F3c.408A>T (p.Glu136Asp)
5g.146339836C>ACA361620638POU4F3c.409C>A (p.His137Asn)
5g.146339836C=CA1589086641POU4F3c.409C= (p.His137=)
5g.146339836C>GCA361620639POU4F3c.409C>G (p.His137Asp)
dbSNP gnomAD v4
5g.146339836C>TCA361620640POU4F3c.409C>T (p.His137Tyr)
5g.146339837A=CA1589086642POU4F3c.410A= (p.His137=)
5g.146339837A>CCA361620641POU4F3c.410A>C (p.His137Pro)
5g.146339837A>GCA361620642POU4F3c.410A>G (p.His137Arg)
gnomAD v4
5g.146339837A>TCA361620643POU4F3c.410A>T (p.His137Leu)
dbSNP gnomAD v4
5g.146339838C>ACA361620645POU4F3c.411C>A (p.His137Gln)
5g.146339838C=CA1589086643POU4F3c.411C= (p.His137=)
5g.146339838C>GCA361620644POU4F3c.411C>G (p.His137Gln)
5g.146339838C>TCA3491124POU4F3c.411C>T (p.His137=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.146339839T>ACA361620646POU4F3c.412T>A (p.Ser138Thr)
5g.146339839T>CCA361620647POU4F3c.412T>C (p.Ser138Pro)
5g.146339839T>GCA361620648POU4F3c.412T>G (p.Ser138Ala)
5g.146339840C>ACA361620649POU4F3c.413C>A (p.Ser138Ter)
gnomAD v4
5g.146339840C=CA1589086644POU4F3c.413C= (p.Ser138=)
5g.146339840C>GCA361620650POU4F3c.413C>G (p.Ser138Trp)
dbSNP gnomAD v4
5g.146339840C>TCA3491125POU4F3c.413C>T (p.Ser138Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.146339841G>ACA3491126POU4F3c.414G>A (p.Ser138=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.146339841G>CCA447097656POU4F3c.414G>C (p.Ser138=)
gnomAD v4
5g.146339841G=CA1589086645POU4F3c.414G= (p.Ser138=)
5g.146339841G>TCA447097655POU4F3c.414G>T (p.Ser138=)
5g.146339841_146339845delCA2739275168POU4F3c.414_418del (p.Val139AlafsTer?)
ClinVar
5g.146339842G>ACA361620651POU4F3c.415G>A (p.Val139Met)
gnomAD v4
5g.146339842G>CCA361620652POU4F3c.415G>C (p.Val139Leu)
5g.146339842G>TCA361620653POU4F3c.415G>T (p.Val139Leu)
5g.146339843T>ACA361620654POU4F3c.416T>A (p.Val139Glu)
5g.146339843T>CCA361620655POU4F3c.416T>C (p.Val139Ala)
5g.146339843T>GCA361620656POU4F3c.416T>G (p.Val139Gly)
5g.146339844G>ACA447097657POU4F3c.417G>A (p.Val139=)
5g.146339844G>CCA447097658POU4F3c.417G>C (p.Val139=)
dbSNP gnomAD v3 gnomAD v4
5g.146339844G=CA1589086646POU4F3c.417G= (p.Val139=)
5g.146339844G>TCA447097659POU4F3c.417G>T (p.Val139=)
gnomAD v4
5g.146339845A>CCA361620658POU4F3c.418A>C (p.Met140Leu)
5g.146339845A>GCA361620659POU4F3c.418A>G (p.Met140Val)
5g.146339845A>TCA361620657POU4F3c.418A>T (p.Met140Leu)
5g.146339846T>ACA361620660POU4F3c.419T>A (p.Met140Lys)
5g.146339846T>CCA361620661POU4F3c.419T>C (p.Met140Thr)

Number of alleles fetched