| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31095310A>T | CA398979144 | NF1 | c.1A>T (p.Met1Leu) n.384A>T c.103A>T (p.Met35Leu) c.21+23261A>T (n.21+23261A>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31095310A>G | CA16615129 | NF1 | c.1A>G (p.Met1Val) n.384A>G c.103A>G (p.Met35Val) c.21+23261A>G (n.21+23261A>G) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31095310A>C | CA398979141 | NF1 | c.1A>C (p.Met1Leu) n.384A>C c.103A>C (p.Met35Leu) c.21+23261A>C (n.21+23261A>C) | ClinVar dbSNP |