Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233485841G>A | CA2176364 | USP40 | c.3334C>T (p.Arg1112Cys) c.3331C>T (p.Arg1111Cys) c.510C>T c.3367C>T (p.Arg1123Cys) c.234C>T n.495C>T n.479C>T n.530C>T c.3370C>T (p.Arg1124Cys) c.3382C>T (p.Arg1128Cys) c.3346C>T (p.Arg1116Cys) c.3073C>T (p.Arg1025Cys) c.2962C>T (p.Arg988Cys) c.1828C>T (p.Arg610Cys) c.2311C>T (p.Arg771Cys) n.3437C>T n.3425C>T n.3499C>T c.3394C>T (p.Arg1132Cys) c.3061C>T (p.Arg1021Cys) c.253C>T (p.Arg85Cys) n.3560C>T n.3590C>T n.3599C>T n.3273C>T n.559C>T n.536+23C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233485841G>T | CA351085924 | USP40 | c.3334C>A (p.Arg1112Ser) c.3331C>A (p.Arg1111Ser) c.510C>A c.3367C>A (p.Arg1123Ser) c.234C>A n.495C>A n.479C>A n.530C>A c.3370C>A (p.Arg1124Ser) c.3382C>A (p.Arg1128Ser) c.3346C>A (p.Arg1116Ser) c.3073C>A (p.Arg1025Ser) c.2962C>A (p.Arg988Ser) c.1828C>A (p.Arg610Ser) c.2311C>A (p.Arg771Ser) n.3437C>A n.3425C>A n.3499C>A c.3394C>A (p.Arg1132Ser) c.3061C>A (p.Arg1021Ser) c.253C>A (p.Arg85Ser) n.3560C>A n.3590C>A n.3599C>A n.3273C>A n.559C>A n.536+23C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |