| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.102635920G>A | CA148427 | MANBA | c.2240C>T (p.Thr747Met) c.2102C>T (p.Thr701Met) c.*742C>T (n.*742C>T) c.*1124C>T (n.*1124C>T) c.1770C>T c.*1222C>T (n.*1222C>T) c.*956C>T (n.*956C>T) c.2191C>T (n.2191C>T) c.1931C>T (p.Thr644Met) n.535C>T n.6337C>T c.1196C>T (p.Thr399Met) c.857C>T (p.Thr286Met) c.1739C>T (p.Thr580Met) c.1454C>T (p.Thr485Met) c.896C>T (p.Thr299Met) c.2027C>T (p.Thr676Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.102635920G>C | CA3026715 | MANBA | c.2240C>G (p.Thr747Arg) c.2102C>G (p.Thr701Arg) c.*742C>G (n.*742C>G) c.*1124C>G (n.*1124C>G) c.1770C>G c.*1222C>G (n.*1222C>G) c.*956C>G (n.*956C>G) c.2191C>G (n.2191C>G) c.1931C>G (p.Thr644Arg) n.535C>G n.6337C>G c.1196C>G (p.Thr399Arg) c.857C>G (p.Thr286Arg) c.1739C>G (p.Thr580Arg) c.1454C>G (p.Thr485Arg) c.896C>G (p.Thr299Arg) c.2027C>G (p.Thr676Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.102635920G>T | CA357757219 | MANBA | c.2240C>A (p.Thr747Lys) c.2102C>A (p.Thr701Lys) c.*742C>A (n.*742C>A) c.*1124C>A (n.*1124C>A) c.1770C>A c.*1222C>A (n.*1222C>A) c.*956C>A (n.*956C>A) c.2191C>A (n.2191C>A) c.1931C>A (p.Thr644Lys) n.535C>A n.6337C>A c.1196C>A (p.Thr399Lys) c.857C>A (p.Thr286Lys) c.1739C>A (p.Thr580Lys) c.1454C>A (p.Thr485Lys) c.896C>A (p.Thr299Lys) c.2027C>A (p.Thr676Lys) | dbSNP gnomAD v4 |