| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.91000531C>A | CA393885236 | VPS33B | c.1540G>T (p.Gly514Cys) c.1459G>T (p.Gly487Cys) n.475G>T n.106G>T c.*1235G>T (n.*1235G>T) c.1267G>T (p.Gly423Cys) c.1462G>T (p.Gly488Cys) c.1216G>T (p.Gly406Cys) c.1195G>T (p.Gly399Cys) n.2038G>T | dbSNP gnomAD v4 |
| 15 | g.91000531C>T | CA7744601 | VPS33B | c.1540G>A (p.Gly514Ser) c.1459G>A (p.Gly487Ser) n.475G>A n.106G>A c.*1235G>A (n.*1235G>A) c.1267G>A (p.Gly423Ser) c.1462G>A (p.Gly488Ser) c.1216G>A (p.Gly406Ser) c.1195G>A (p.Gly399Ser) n.2038G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.91000531C>G | CA7744602 | VPS33B | c.1540G>C (p.Gly514Arg) c.1459G>C (p.Gly487Arg) n.475G>C n.106G>C c.*1235G>C (n.*1235G>C) c.1267G>C (p.Gly423Arg) c.1462G>C (p.Gly488Arg) c.1216G>C (p.Gly406Arg) c.1195G>C (p.Gly399Arg) n.2038G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |