| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.43121950G>A | CA009058 | RET | c.2339G>A (p.Arg780Gln) n.2309G>A c.2735G>A (p.Arg912Gln) c.*1329G>A (n.*1329G>A) c.*84G>A (n.*84G>A) c.1973G>A (p.Arg658Gln) | ClinVar dbSNP COSMIC COSMIC |
| 10 | g.43121950G>C | CA009066 | RET | c.2339G>C (p.Arg780Pro) n.2309G>C c.2735G>C (p.Arg912Pro) c.*1329G>C (n.*1329G>C) c.*84G>C (n.*84G>C) c.1973G>C (p.Arg658Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.43121950G>T | CA040762 | RET | c.2339G>T (p.Arg780Leu) n.2309G>T c.2735G>T (p.Arg912Leu) c.*1329G>T (n.*1329G>T) c.*84G>T (n.*84G>T) c.1973G>T (p.Arg658Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |