| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2167905C>G | CA379128109 | TH | c.605G>C (p.Arg202Pro) c.*294G>C (n.*294G>C) c.686G>C (p.Arg229Pro) c.698G>C (p.Arg233Pro) c.45G>C n.354G>C c.617G>C (p.Arg206Pro) | dbSNP gnomAD v4 |
| 11 | g.2167905C>T | CA341192 | TH | c.605G>A (p.Arg202His) c.*294G>A (n.*294G>A) c.686G>A (p.Arg229His) c.698G>A (p.Arg233His) c.45G>A n.354G>A c.617G>A (p.Arg206His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |