| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.146339673_146340072delinsGG | CA2573139233 | POU4F3 | c.246_645delinsGG (p.Met83GlufsTer?) | ClinVar dbSNP |
| 5 | g.146339927_146339928delinsTG | CA1589086689 | POU4F3 | c.500_501delinsTG (p.Val167=) | |
| 5 | g.146339928G>A | CA447097717 | POU4F3 | c.501G>A (p.Val167=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339928G>C | CA447097714 | POU4F3 | c.501G>C (p.Val167=) | |
| 5 | g.146339928G= | CA1589086690 | POU4F3 | c.501G= (p.Val167=) | |
| 5 | g.146339928G>T | CA447097716 | POU4F3 | c.501G>T (p.Val167=) | gnomAD v4 |
| 5 | g.146339929del | CA3491147 | POU4F3 | c.502del (p.Ala168ProfsTer?) | ClinVar dbSNP ExAC |
| 5 | g.146339929G>A | CA361620852 | POU4F3 | c.502G>A (p.Ala168Thr) | gnomAD v4 |
| 5 | g.146339929G>C | CA361620856 | POU4F3 | c.502G>C (p.Ala168Pro) | |
| 5 | g.146339929G>T | CA361620854 | POU4F3 | c.502G>T (p.Ala168Ser) | gnomAD v4 |
| 5 | g.146339929_146339930delinsGC | CA1589086691 | POU4F3 | c.502_503delinsGC (p.Ala168=) | |
| 5 | g.146339930C>A | CA361620858 | POU4F3 | c.503C>A (p.Ala168Asp) | |
| 5 | g.146339930C= | CA1589086693 | POU4F3 | c.503C= (p.Ala168=) | |
| 5 | g.146339930C>G | CA361620859 | POU4F3 | c.503C>G (p.Ala168Gly) | |
| 5 | g.146339930C>T | CA361620862 | POU4F3 | c.503C>T (p.Ala168Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146339933del | CA1589086692 | POU4F3 | c.506del (p.Pro169LeufsTer?) | dbSNP |
| 5 | g.146339931C>A | CA447097719 | POU4F3 | c.504C>A (p.Ala168=) | |
| 5 | g.146339931C>G | CA447097720 | POU4F3 | c.504C>G (p.Ala168=) | |
| 5 | g.146339931C>T | CA447097721 | POU4F3 | c.504C>T (p.Ala168=) | gnomAD v4 |
| 5 | g.146339932C>A | CA361620864 | POU4F3 | c.505C>A (p.Pro169Thr) | |
| 5 | g.146339932C= | CA1589086694 | POU4F3 | c.505C= (p.Pro169=) | |
| 5 | g.146339932C>G | CA3491148 | POU4F3 | c.505C>G (p.Pro169Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339932C>T | CA3491149 | POU4F3 | c.505C>T (p.Pro169Ser) | dbSNP ExAC gnomAD v2 |
| 5 | g.146339933C>A | CA361620868 | POU4F3 | c.506C>A (p.Pro169His) | |
| 5 | g.146339933C>G | CA361620870 | POU4F3 | c.506C>G (p.Pro169Arg) | |
| 5 | g.146339933C>T | CA361620872 | POU4F3 | c.506C>T (p.Pro169Leu) | gnomAD v4 |
| 5 | g.146339933_146339934insA | CA2578641131 | POU4F3 | c.506_507insA (p.His170SerfsTer2) | |
| 5 | g.146339934T>A | CA447097723 | POU4F3 | c.507T>A (p.Pro169=) | gnomAD v4 |
| 5 | g.146339934T>C | CA447097724 | POU4F3 | c.507T>C (p.Pro169=) | |
| 5 | g.146339934T>G | CA447097725 | POU4F3 | c.507T>G (p.Pro169=) | |
| 5 | g.146339935C>A | CA361620874 | POU4F3 | c.508C>A (p.His170Asn) | |
| 5 | g.146339935C= | CA1589086695 | POU4F3 | c.508C= (p.His170=) | |
| 5 | g.146339935C>G | CA361620876 | POU4F3 | c.508C>G (p.His170Asp) | |
| 5 | g.146339935C>T | CA361620878 | POU4F3 | c.508C>T (p.His170Tyr) | ClinVar dbSNP gnomAD v2 COSMIC |
| 5 | g.146339936A= | CA1589086696 | POU4F3 | c.509A= (p.His170=) | |
| 5 | g.146339936A>C | CA361620880 | POU4F3 | c.509A>C (p.His170Pro) | dbSNP gnomAD v4 |
| 5 | g.146339936A>G | CA3491150 | POU4F3 | c.509A>G (p.His170Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146339936A>T | CA361620883 | POU4F3 | c.509A>T (p.His170Leu) | |
| 5 | g.146339937T>A | CA361620886 | POU4F3 | c.510T>A (p.His170Gln) | |
| 5 | g.146339937T>C | CA447097727 | POU4F3 | c.510T>C (p.His170=) | |
| 5 | g.146339937T>G | CA361620887 | POU4F3 | c.510T>G (p.His170Gln) | |
| 5 | g.146339938A>C | CA361620892 | POU4F3 | c.511A>C (p.Ser171Arg) | |
| 5 | g.146339938A>G | CA361620893 | POU4F3 | c.511A>G (p.Ser171Gly) | |
| 5 | g.146339938A>T | CA361620890 | POU4F3 | c.511A>T (p.Ser171Cys) | |
| 5 | g.146339939G>A | CA361620895 | POU4F3 | c.512G>A (p.Ser171Asn) | |
| 5 | g.146339939G>C | CA361620899 | POU4F3 | c.512G>C (p.Ser171Thr) | |
| 5 | g.146339939G>T | CA361620897 | POU4F3 | c.512G>T (p.Ser171Ile) | gnomAD v4 |
| 5 | g.146339940C>A | CA3491151 | POU4F3 | c.513C>A (p.Ser171Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146339940C= | CA1589086697 | POU4F3 | c.513C= (p.Ser171=) | |
| 5 | g.146339940C>G | CA361620901 | POU4F3 | c.513C>G (p.Ser171Arg) |