| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30674229G>C | CA351809139 | TGFBR2 | c.1379G>C (p.Arg460Pro) n.2975G>C n.257G>C c.1454G>C (p.Arg485Pro) c.1406G>C (p.Arg469Pro) c.1331G>C (p.Arg444Pro) c.1274G>C (p.Arg425Pro) | ClinVar dbSNP |
| 3 | g.30674229G>A | CA020664 | TGFBR2 | c.1379G>A (p.Arg460His) n.2975G>A n.257G>A c.1454G>A (p.Arg485His) c.1406G>A (p.Arg469His) c.1331G>A (p.Arg444His) c.1274G>A (p.Arg425His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30674229G>T | CA351809138 | TGFBR2 | c.1379G>T (p.Arg460Leu) n.2975G>T n.257G>T c.1454G>T (p.Arg485Leu) c.1406G>T (p.Arg469Leu) c.1331G>T (p.Arg444Leu) c.1274G>T (p.Arg425Leu) | ClinVar dbSNP COSMIC COSMIC |