| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.47180493G>A | CA121627 | RBM10 | c.1235G>A (p.Trp412Ter) c.1430G>A (p.Trp477Ter) c.1004G>A (p.Trp335Ter) n.610G>A n.169-722G>A c.1001G>A (p.Trp334Ter) c.1232G>A (p.Trp411Ter) c.1427G>A (p.Trp476Ter) c.1199G>A (p.Trp400Ter) c.1196G>A (p.Trp399Ter) c.626G>A (p.Trp209Ter) c.299G>A (p.Trp100Ter) c.623G>A (p.Trp208Ter) | ClinVar dbSNP gnomAD v2 |
| X | g.47180493G>C | CA412800379 | RBM10 | c.1235G>C (p.Trp412Ser) c.1430G>C (p.Trp477Ser) c.1004G>C (p.Trp335Ser) n.610G>C n.169-722G>C c.1001G>C (p.Trp334Ser) c.1232G>C (p.Trp411Ser) c.1427G>C (p.Trp476Ser) c.1199G>C (p.Trp400Ser) c.1196G>C (p.Trp399Ser) c.626G>C (p.Trp209Ser) c.299G>C (p.Trp100Ser) c.623G>C (p.Trp208Ser) | dbSNP |