Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.146339673_146340072delinsGG | CA2573139233 | POU4F3 | c.246_645delinsGG (p.Met83GlufsTer?) | ClinVar dbSNP |
5 | g.146339951C>A | CA361620947 | POU4F3 | c.524C>A (p.Ala175Glu) | |
5 | g.146339951C>G | CA361620950 | POU4F3 | c.524C>G (p.Ala175Gly) | |
5 | g.146339951C>T | CA361620953 | POU4F3 | c.524C>T (p.Ala175Val) | gnomAD v4 |
5 | g.146339952A>C | CA447097744 | POU4F3 | c.525A>C (p.Ala175=) | |
5 | g.146339952A>G | CA447097746 | POU4F3 | c.525A>G (p.Ala175=) | ClinVar gnomAD v4 |
5 | g.146339952A>T | CA447097742 | POU4F3 | c.525A>T (p.Ala175=) | |
5 | g.146339953T>A | CA361620955 | POU4F3 | c.526T>A (p.Cys176Ser) | |
5 | g.146339953T>C | CA361620957 | POU4F3 | c.526T>C (p.Cys176Arg) | gnomAD v4 |
5 | g.146339953T>G | CA3491157 | POU4F3 | c.526T>G (p.Cys176Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.146339953T= | CA1589086704 | POU4F3 | c.526T= (p.Cys176=) | |
5 | g.146339954G>A | CA3491158 | POU4F3 | c.527G>A (p.Cys176Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.146339954G>C | CA361620962 | POU4F3 | c.527G>C (p.Cys176Ser) | |
5 | g.146339954G= | CA1589086705 | POU4F3 | c.527G= (p.Cys176=) | |
5 | g.146339954G>T | CA361620965 | POU4F3 | c.527G>T (p.Cys176Phe) | gnomAD v4 |
5 | g.146339955C>A | CA361620969 | POU4F3 | c.528C>A (p.Cys176Ter) | |
5 | g.146339955C>G | CA361620972 | POU4F3 | c.528C>G (p.Cys176Trp) | |
5 | g.146339955C>T | CA447097748 | POU4F3 | c.528C>T (p.Cys176=) | |
5 | g.146339956C>A | CA361620974 | POU4F3 | c.529C>A (p.Leu177Ile) | |
5 | g.146339956C>G | CA361620977 | POU4F3 | c.529C>G (p.Leu177Val) | |
5 | g.146339956C>T | CA361620979 | POU4F3 | c.529C>T (p.Leu177Phe) | |
5 | g.146339957T>A | CA361620982 | POU4F3 | c.530T>A (p.Leu177His) | |
5 | g.146339957T>C | CA3491159 | POU4F3 | c.530T>C (p.Leu177Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.146339957T>G | CA361620983 | POU4F3 | c.530T>G (p.Leu177Arg) | |
5 | g.146339957T= | CA1589086706 | POU4F3 | c.530T= (p.Leu177=) | |
5 | g.146339958C>A | CA447097752 | POU4F3 | c.531C>A (p.Leu177=) | |
5 | g.146339958C>G | CA447097751 | POU4F3 | c.531C>G (p.Leu177=) | gnomAD v4 |
5 | g.146339958C>T | CA447097750 | POU4F3 | c.531C>T (p.Leu177=) | |
5 | g.146339959A>C | CA361620988 | POU4F3 | c.532A>C (p.Ser178Arg) | |
5 | g.146339959A>G | CA361620991 | POU4F3 | c.532A>G (p.Ser178Gly) | |
5 | g.146339959A>T | CA361620993 | POU4F3 | c.532A>T (p.Ser178Cys) | |
5 | g.146339960G>A | CA361620995 | POU4F3 | c.533G>A (p.Ser178Asn) | |
5 | g.146339960G>C | CA3491160 | POU4F3 | c.533G>C (p.Ser178Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.146339960G= | CA1589086707 | POU4F3 | c.533G= (p.Ser178=) | |
5 | g.146339960G>T | CA361621000 | POU4F3 | c.533G>T (p.Ser178Ile) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.146339961C>A | CA361621003 | POU4F3 | c.534C>A (p.Ser178Arg) | |
5 | g.146339961C>G | CA361621005 | POU4F3 | c.534C>G (p.Ser178Arg) | |
5 | g.146339961C>T | CA447097755 | POU4F3 | c.534C>T (p.Ser178=) | gnomAD v4 |
5 | g.146339962G>A | CA361621009 | POU4F3 | c.535G>A (p.Asp179Asn) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.146339962G>C | CA361621011 | POU4F3 | c.535G>C (p.Asp179His) | |
5 | g.146339962G= | CA1589086708 | POU4F3 | c.535G= (p.Asp179=) | |
5 | g.146339962G>T | CA361621013 | POU4F3 | c.535G>T (p.Asp179Tyr) | gnomAD v4 |
5 | g.146339963A>C | CA361621021 | POU4F3 | c.536A>C (p.Asp179Ala) | |
5 | g.146339963A>G | CA361621020 | POU4F3 | c.536A>G (p.Asp179Gly) | |
5 | g.146339963A>T | CA361621017 | POU4F3 | c.536A>T (p.Asp179Val) | |
5 | g.146339964C>A | CA361621025 | POU4F3 | c.537C>A (p.Asp179Glu) | ClinVar dbSNP gnomAD v4 |
5 | g.146339964C>G | CA361621028 | POU4F3 | c.537C>G (p.Asp179Glu) | |
5 | g.146339964C>T | CA447097758 | POU4F3 | c.537C>T (p.Asp179=) | COSMIC |
5 | g.146339965G>A | CA361621031 | POU4F3 | c.538G>A (p.Val180Met) | gnomAD v4 |
5 | g.146339965G>C | CA361621034 | POU4F3 | c.538G>C (p.Val180Leu) |