| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.43111239A>G | CA007516 | RET | c.900A>G (p.Ala300=) n.870A>G n.57A>G c.1296A>G (p.Ala432=) c.658A>G (p.Ile220Val) c.106A>G (p.Ile36Val) c.74-860A>G (n.74-860A>G) c.1289+7A>G (n.1289+7A>G) c.534A>G (p.Ala178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.43111239A>T | CA469479620 | RET | c.900A>T (p.Ala300=) n.870A>T n.57A>T c.1296A>T (p.Ala432=) c.658A>T (p.Ile220Phe) c.106A>T (p.Ile36Phe) c.74-860A>T (n.74-860A>T) c.1289+7A>T (n.1289+7A>T) c.534A>T (p.Ala178=) | dbSNP |
| 10 | g.43111239A= | CA1630848215 | RET | c.900A= (p.Ala300=) n.870A= n.57A= c.1296A= (p.Ala432=) c.658A= (p.Ile220=) c.106A= (p.Ile36=) c.74-860A= (n.74-860A=) c.1289+7A= (n.1289+7A=) c.534A= (p.Ala178=) | ClinVar dbSNP |
| 10 | g.43111239A>C | CA469479619 | RET | c.900A>C (p.Ala300=) n.870A>C n.57A>C c.1296A>C (p.Ala432=) c.658A>C (p.Ile220Leu) c.106A>C (p.Ile36Leu) c.74-860A>C (n.74-860A>C) c.1289+7A>C (n.1289+7A>C) c.534A>C (p.Ala178=) | ClinVar dbSNP |