| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99556552G>T | CA371869273 | VPS13B | c.4923G>T (p.Trp1641Cys) n.4993G>T c.*605G>T (n.*605G>T) c.4848G>T (p.Trp1616Cys) c.*706G>T (n.*706G>T) c.113-19106G>T c.4920G>T (p.Trp1640Cys) c.4845G>T (p.Trp1615Cys) c.4545G>T (p.Trp1515Cys) c.1809G>T (p.Trp603Cys) c.702G>T (p.Trp234Cys) n.5026G>T n.5093G>T c.4728G>T (p.Trp1576Cys) c.480G>T (p.Trp160Cys) c.3708G>T (p.Trp1236Cys) n.4884G>T | dbSNP gnomAD v2 |
| 8 | g.99556552G>C | CA371869270 | VPS13B | c.4923G>C (p.Trp1641Cys) n.4993G>C c.*605G>C (n.*605G>C) c.4848G>C (p.Trp1616Cys) c.*706G>C (n.*706G>C) c.113-19106G>C c.4920G>C (p.Trp1640Cys) c.4845G>C (p.Trp1615Cys) c.4545G>C (p.Trp1515Cys) c.1809G>C (p.Trp603Cys) c.702G>C (p.Trp234Cys) n.5026G>C n.5093G>C c.4728G>C (p.Trp1576Cys) c.480G>C (p.Trp160Cys) c.3708G>C (p.Trp1236Cys) n.4884G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99556552G>A | CA274306 | VPS13B | c.4923G>A (p.Trp1641Ter) n.4993G>A c.*605G>A (n.*605G>A) c.4848G>A (p.Trp1616Ter) c.*706G>A (n.*706G>A) c.113-19106G>A c.4920G>A (p.Trp1640Ter) c.4845G>A (p.Trp1615Ter) c.4545G>A (p.Trp1515Ter) c.1809G>A (p.Trp603Ter) c.702G>A (p.Trp234Ter) n.5026G>A n.5093G>A c.4728G>A (p.Trp1576Ter) c.480G>A (p.Trp160Ter) c.3708G>A (p.Trp1236Ter) n.4884G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |