Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.24800216G>A | CA94297261 | SOD3 | c.695G>A (p.Arg232Gln) n.885G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800216G>C | CA356640623 | SOD3 | c.695G>C (p.Arg232Pro) n.885G>C | gnomAD v4 |
4 | g.24800216G= | CA1445033283 | SOD3 | c.695G= (p.Arg232=) n.885G= | |
4 | g.24800216G>T | CA356640625 | SOD3 | c.695G>T (p.Arg232Leu) n.885G>T | gnomAD v4 |
4 | g.24800217G>A | CA438901846 | SOD3 | c.696G>A (p.Arg232=) n.886G>A | dbSNP gnomAD v4 |
4 | g.24800217G>C | CA438901847 | SOD3 | c.696G>C (p.Arg232=) n.886G>C | |
4 | g.24800217G= | CA1445033284 | SOD3 | c.696G= (p.Arg232=) n.886G= | |
4 | g.24800217G>T | CA438901848 | SOD3 | c.696G>T (p.Arg232=) n.886G>T | gnomAD v4 |
4 | g.24800218C>A | CA356640627 | SOD3 | c.697C>A (p.Arg233Ser) n.887C>A | dbSNP gnomAD v4 |
4 | g.24800218C= | CA1445033286 | SOD3 | c.697C= (p.Arg233=) n.887C= | |
4 | g.24800218C>G | CA356640629 | SOD3 | c.697C>G (p.Arg233Gly) n.887C>G | |
4 | g.24800218C>T | CA356640631 | SOD3 | c.697C>T (p.Arg233Cys) n.887C>T | gnomAD v4 |
4 | g.24800219G>A | CA356640633 | SOD3 | c.698G>A (p.Arg233His) n.888G>A | gnomAD v4 |
4 | g.24800219G>C | CA356640634 | SOD3 | c.698G>C (p.Arg233Pro) n.888G>C | gnomAD v4 |
4 | g.24800219G>T | CA356640636 | SOD3 | c.698G>T (p.Arg233Leu) n.888G>T | gnomAD v4 |
4 | g.24800220C>A | CA2876305 | SOD3 | c.699C>A (p.Arg233=) n.889C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24800220C= | CA1445033287 | SOD3 | c.699C= (p.Arg233=) n.889C= | |
4 | g.24800220C>G | CA438901856 | SOD3 | c.699C>G (p.Arg233=) n.889C>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800220C>T | CA438901854 | SOD3 | c.699C>T (p.Arg233=) n.889C>T | gnomAD v4 |
4 | g.24800221G>A | CA356640638 | SOD3 | c.700G>A (p.Glu234Lys) n.890G>A | gnomAD v4 |
4 | g.24800221G>C | CA356640640 | SOD3 | c.700G>C (p.Glu234Gln) n.890G>C | |
4 | g.24800221G= | CA1445033289 | SOD3 | c.700G= (p.Glu234=) n.890G= | |
4 | g.24800221G>T | CA2876306 | SOD3 | c.700G>T (p.Glu234Ter) n.890G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24800222A>C | CA356640643 | SOD3 | c.701A>C (p.Glu234Ala) n.891A>C | |
4 | g.24800222A>G | CA356640647 | SOD3 | c.701A>G (p.Glu234Gly) n.891A>G | gnomAD v4 |
4 | g.24800222A>T | CA356640644 | SOD3 | c.701A>T (p.Glu234Val) n.891A>T | |
4 | g.24800223G>A | CA438901864 | SOD3 | c.702G>A (p.Glu234=) n.892G>A | gnomAD v4 |
4 | g.24800223G>C | CA356640649 | SOD3 | c.702G>C (p.Glu234Asp) n.892G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800223G= | CA1445033293 | SOD3 | c.702G= (p.Glu234=) n.892G= | |
4 | g.24800223G>T | CA356640650 | SOD3 | c.702G>T (p.Glu234Asp) n.892G>T | gnomAD v4 |
4 | g.24800224A>C | CA356640651 | SOD3 | c.703A>C (p.Ser235Arg) n.893A>C | |
4 | g.24800224A>G | CA356640652 | SOD3 | c.703A>G (p.Ser235Gly) n.893A>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800224A>T | CA356640653 | SOD3 | c.703A>T (p.Ser235Cys) n.893A>T | |
4 | g.24800225G>A | CA356640655 | SOD3 | c.704G>A (p.Ser235Asn) n.894G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800225G>C | CA356640656 | SOD3 | c.704G>C (p.Ser235Thr) n.894G>C | |
4 | g.24800225G= | CA1445033295 | SOD3 | c.704G= (p.Ser235=) n.894G= | |
4 | g.24800225G>T | CA356640658 | SOD3 | c.704G>T (p.Ser235Ile) n.894G>T | gnomAD v4 |
4 | g.24800226C>A | CA356640660 | SOD3 | c.705C>A (p.Ser235Arg) n.895C>A | gnomAD v4 |
4 | g.24800226C>G | CA356640662 | SOD3 | c.705C>G (p.Ser235Arg) n.895C>G | gnomAD v4 |
4 | g.24800226C>T | CA438901876 | SOD3 | c.705C>T (p.Ser235=) n.895C>T | gnomAD v4 |
4 | g.24800227G>A | CA356640668 | SOD3 | c.706G>A (p.Glu236Lys) n.896G>A | dbSNP gnomAD v4 |
4 | g.24800227G>C | CA356640666 | SOD3 | c.706G>C (p.Glu236Gln) n.896G>C | dbSNP gnomAD v4 |
4 | g.24800227G= | CA1445033298 | SOD3 | c.706G= (p.Glu236=) n.896G= | |
4 | g.24800227G>T | CA356640664 | SOD3 | c.706G>T (p.Glu236Ter) n.896G>T | gnomAD v4 |
4 | g.24800228A= | CA1445033301 | SOD3 | c.707A= (p.Glu236=) n.897A= | |
4 | g.24800228A>C | CA356640670 | SOD3 | c.707A>C (p.Glu236Ala) n.897A>C | |
4 | g.24800228A>G | CA356640674 | SOD3 | c.707A>G (p.Glu236Gly) n.897A>G | dbSNP gnomAD v4 |
4 | g.24800228A>T | CA356640672 | SOD3 | c.707A>T (p.Glu236Val) n.897A>T | |
4 | g.24800229G>A | CA438901878 | SOD3 | c.708G>A (p.Glu236=) n.898G>A | dbSNP gnomAD v4 |
4 | g.24800229G>C | CA356640676 | SOD3 | c.708G>C (p.Glu236Asp) n.898G>C |