| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99149218G>A | CA374233633 | TGFBR1 | c.1218G>A (p.Trp406Ter) c.1230G>A (p.Trp410Ter) c.*347G>A (n.*347G>A) c.987G>A (p.Trp329Ter) c.*1221G>A (n.*1221G>A) n.992G>A c.1425G>A (p.Trp475Ter) c.1194G>A (p.Trp398Ter) c.*160G>A (n.*160G>A) c.1437G>A (p.Trp479Ter) | dbSNP gnomAD v4 |
| 9 | g.99149218G>T | CA040887 | TGFBR1 | c.1218G>T (p.Trp406Cys) c.1230G>T (p.Trp410Cys) c.*347G>T (n.*347G>T) c.987G>T (p.Trp329Cys) c.*1221G>T (n.*1221G>T) n.992G>T c.1425G>T (p.Trp475Cys) c.1194G>T (p.Trp398Cys) c.*160G>T (n.*160G>T) c.1437G>T (p.Trp479Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.99149218G>C | CA374233634 | TGFBR1 | c.1218G>C (p.Trp406Cys) c.1230G>C (p.Trp410Cys) c.*347G>C (n.*347G>C) c.987G>C (p.Trp329Cys) c.*1221G>C (n.*1221G>C) n.992G>C c.1425G>C (p.Trp475Cys) c.1194G>C (p.Trp398Cys) c.*160G>C (n.*160G>C) c.1437G>C (p.Trp479Cys) | dbSNP gnomAD v4 |