| 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 |
| 14 | g.64210033C= | CA1630856071 | ESR2,SYNE2 | n.551C= c.18632C= (p.Thr6211=) c.18527C= (p.Thr6176=) c.7787C= (p.Thr2596=) c.*507C= (n.*507C=) c.18509C= (p.Thr6170=) c.-20C= (n.-20C=) n.426C= c.8534C= (p.Thr2845=) c.266C= (p.Thr89=) c.*411C= (n.*411C=) c.1406+24937G= (n.1406+24937G=) c.18515C= (p.Thr6172=) c.15437C= (p.Thr5146=) c.18563C= (p.Thr6188=) c.614C= (p.Thr205=) | dbSNP |
| 14 | g.64210033C>A | CA389951350 | ESR2,SYNE2 | n.551C>A c.18632C>A (p.Thr6211Lys) c.18527C>A (p.Thr6176Lys) c.7787C>A (p.Thr2596Lys) c.*507C>A (n.*507C>A) c.18509C>A (p.Thr6170Lys) c.-20C>A (n.-20C>A) n.426C>A c.8534C>A (p.Thr2845Lys) c.266C>A (p.Thr89Lys) c.*411C>A (n.*411C>A) c.1406+24937G>T (n.1406+24937G>T) c.18515C>A (p.Thr6172Lys) c.15437C>A (p.Thr5146Lys) c.18563C>A (p.Thr6188Lys) c.614C>A (p.Thr205Lys) | dbSNP gnomAD v4 |