| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30672246G>C | CA020590 | TGFBR2 | c.1063G>C (p.Ala355Pro) n.2659G>C c.1138G>C (p.Ala380Pro) c.1090G>C (p.Ala364Pro) c.1015G>C (p.Ala339Pro) c.958G>C (p.Ala320Pro) | ClinVar dbSNP |
| 3 | g.30672246G>A | CA16604494 | TGFBR2 | c.1063G>A (p.Ala355Thr) n.2659G>A c.1138G>A (p.Ala380Thr) c.1090G>A (p.Ala364Thr) c.1015G>A (p.Ala339Thr) c.958G>A (p.Ala320Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672246G>T | CA045538 | TGFBR2 | c.1063G>T (p.Ala355Ser) n.2659G>T c.1138G>T (p.Ala380Ser) c.1090G>T (p.Ala364Ser) c.1015G>T (p.Ala339Ser) c.958G>T (p.Ala320Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |