Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.146339673_146340072delinsGG | CA2573139233 | POU4F3 | c.246_645delinsGG (p.Met83GlufsTer?) | ClinVar dbSNP |
5 | g.146339908A>C | CA361620791 | POU4F3 | c.481A>C (p.Met161Leu) | |
5 | g.146339908A>G | CA361620792 | POU4F3 | c.481A>G (p.Met161Val) | gnomAD v4 |
5 | g.146339908A>T | CA361620793 | POU4F3 | c.481A>T (p.Met161Leu) | gnomAD v4 |
5 | g.146339909T>A | CA361620796 | POU4F3 | c.482T>A (p.Met161Lys) | |
5 | g.146339909T>C | CA361620794 | POU4F3 | c.482T>C (p.Met161Thr) | gnomAD v4 |
5 | g.146339909T>G | CA361620795 | POU4F3 | c.482T>G (p.Met161Arg) | |
5 | g.146339910G>A | CA361620797 | POU4F3 | c.483G>A (p.Met161Ile) | gnomAD v4 |
5 | g.146339910G>C | CA361620798 | POU4F3 | c.483G>C (p.Met161Ile) | gnomAD v4 |
5 | g.146339910G>T | CA361620799 | POU4F3 | c.483G>T (p.Met161Ile) | gnomAD v4 |
5 | g.146339911A= | CA1589086680 | POU4F3 | c.484A= (p.Ser162=) | |
5 | g.146339911A>C | CA361620800 | POU4F3 | c.484A>C (p.Ser162Arg) | |
5 | g.146339911A>G | CA3491141 | POU4F3 | c.484A>G (p.Ser162Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.146339911A>T | CA361620801 | POU4F3 | c.484A>T (p.Ser162Cys) | |
5 | g.146339912G>A | CA361620803 | POU4F3 | c.485G>A (p.Ser162Asn) | |
5 | g.146339912G>C | CA361620804 | POU4F3 | c.485G>C (p.Ser162Thr) | |
5 | g.146339912G>T | CA361620802 | POU4F3 | c.485G>T (p.Ser162Ile) | gnomAD v4 |
5 | g.146339913T>A | CA361620805 | POU4F3 | c.486T>A (p.Ser162Arg) | |
5 | g.146339913T>C | CA447097703 | POU4F3 | c.486T>C (p.Ser162=) | |
5 | g.146339913T>G | CA361620806 | POU4F3 | c.486T>G (p.Ser162Arg) | |
5 | g.146339914C>A | CA361620807 | POU4F3 | c.487C>A (p.His163Asn) | |
5 | g.146339914C>G | CA361620808 | POU4F3 | c.487C>G (p.His163Asp) | |
5 | g.146339914C>T | CA361620809 | POU4F3 | c.487C>T (p.His163Tyr) | |
5 | g.146339915del | CA2695205584 | POU4F3 | c.488del (p.His163ProfsTer?) | |
5 | g.146339915A>C | CA361620810 | POU4F3 | c.488A>C (p.His163Pro) | |
5 | g.146339915A>G | CA361620811 | POU4F3 | c.488A>G (p.His163Arg) | |
5 | g.146339915A>T | CA361620812 | POU4F3 | c.488A>T (p.His163Leu) | |
5 | g.146339916C>A | CA361620813 | POU4F3 | c.489C>A (p.His163Gln) | gnomAD v4 |
5 | g.146339916C= | CA1589086681 | POU4F3 | c.489C= (p.His163=) | |
5 | g.146339916C>G | CA361620814 | POU4F3 | c.489C>G (p.His163Gln) | gnomAD v4 |
5 | g.146339916C>T | CA3491142 | POU4F3 | c.489C>T (p.His163=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.146339918del | CA2675813846 | POU4F3 | c.491del (p.Pro164ArgfsTer?) | gnomAD v4 |
5 | g.146339917C>A | CA3491143 | POU4F3 | c.490C>A (p.Pro164Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.146339917C= | CA1589086682 | POU4F3 | c.490C= (p.Pro164=) | |
5 | g.146339917C>G | CA361620815 | POU4F3 | c.490C>G (p.Pro164Ala) | |
5 | g.146339917C>T | CA182494 | POU4F3 | c.490C>T (p.Pro164Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.146339918C>A | CA361620816 | POU4F3 | c.491C>A (p.Pro164Gln) | |
5 | g.146339918C= | CA1589086683 | POU4F3 | c.491C= (p.Pro164=) | |
5 | g.146339918C>G | CA3491144 | POU4F3 | c.491C>G (p.Pro164Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.146339918C>T | CA177657 | POU4F3 | c.491C>T (p.Pro164Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.146339919_146339920del | CA2561569132 | POU4F3 | c.492_493del (p.Thr166ArgfsTer5) | |
5 | g.146339919G>A | CA447097706 | POU4F3 | c.492G>A (p.Pro164=) | gnomAD v4 COSMIC |
5 | g.146339919G>C | CA447097707 | POU4F3 | c.492G>C (p.Pro164=) | |
5 | g.146339919G= | CA1589086684 | POU4F3 | c.492G= (p.Pro164=) | |
5 | g.146339919G>T | CA3491145 | POU4F3 | c.492G>T (p.Pro164=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.146339920C>A | CA361620817 | POU4F3 | c.493C>A (p.His165Asn) | |
5 | g.146339920C>G | CA361620818 | POU4F3 | c.493C>G (p.His165Asp) | |
5 | g.146339920C>T | CA361620819 | POU4F3 | c.493C>T (p.His165Tyr) | |
5 | g.146339921_146339924del | CA2740094128 | POU4F3 | c.494_497del (p.His165ProfsTer?) | ClinVar |
5 | g.146339921A>C | CA361620820 | POU4F3 | c.494A>C (p.His165Pro) |