| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.64210033C>T | CA115482 | ESR2,SYNE2 | n.551C>T c.18632C>T (p.Thr6211Met) c.18527C>T (p.Thr6176Met) c.7787C>T (p.Thr2596Met) c.*507C>T (n.*507C>T) c.18509C>T (p.Thr6170Met) c.-20C>T (n.-20C>T) n.426C>T c.8534C>T (p.Thr2845Met) c.266C>T (p.Thr89Met) c.*411C>T (n.*411C>T) c.1406+24937G>A (n.1406+24937G>A) c.18515C>T (p.Thr6172Met) c.15437C>T (p.Thr5146Met) c.18563C>T (p.Thr6188Met) c.614C>T (p.Thr205Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.64210033C>G | CA7224158 | ESR2,SYNE2 | n.551C>G c.18632C>G (p.Thr6211Arg) c.18527C>G (p.Thr6176Arg) c.7787C>G (p.Thr2596Arg) c.*507C>G (n.*507C>G) c.18509C>G (p.Thr6170Arg) c.-20C>G (n.-20C>G) n.426C>G c.8534C>G (p.Thr2845Arg) c.266C>G (p.Thr89Arg) c.*411C>G (n.*411C>G) c.1406+24937G>C (n.1406+24937G>C) c.18515C>G (p.Thr6172Arg) c.15437C>G (p.Thr5146Arg) c.18563C>G (p.Thr6188Arg) c.614C>G (p.Thr205Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |