| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.47121396C>T | CA162098 | SETD2 | c.3108G>A (p.Met1036Ile) c.3141G>A (p.Met1047Ile) c.1120G>A c.1181G>A c.256G>A c.1404G>A (p.Met468Ile) c.72-23315G>A (n.72-23315G>A) c.3240G>A (p.Met1080Ile) c.2855G>A c.2392G>A c.2140G>A c.3318G>A (p.Met1106Ile) c.3264G>A (p.Met1088Ile) n.3333G>A n.3421G>A n.3293G>A n.3169G>A n.3429G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47121396C= | CA1362408325 | SETD2 | c.3108G= (p.Met1036=) c.3141G= (p.Met1047=) c.1120G= c.1181G= c.256G= c.1404G= (p.Met468=) c.72-23315G= (n.72-23315G=) c.3240G= (p.Met1080=) c.2855G= c.2392G= c.2140G= c.3318G= (p.Met1106=) c.3264G= (p.Met1088=) n.3333G= n.3421G= n.3293G= n.3169G= n.3429G= | dbSNP |