| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.53526629C>G | CA402518831 | DCC | c.4124C>G (p.Pro1375Arg) c.4055C>G (p.Pro1352Arg) n.209C>G c.3023C>G (p.Pro1008Arg) c.3089C>G (p.Pro1030Arg) c.4118C>G (p.Pro1373Arg) c.4064C>G (p.Pro1355Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.53526629C>T | CA8967731 | DCC | c.4124C>T (p.Pro1375Leu) c.4055C>T (p.Pro1352Leu) n.209C>T c.3023C>T (p.Pro1008Leu) c.3089C>T (p.Pro1030Leu) c.4118C>T (p.Pro1373Leu) c.4064C>T (p.Pro1355Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.53526629C>A | CA250661 | DCC | c.4124C>A (p.Pro1375His) c.4055C>A (p.Pro1352His) n.209C>A c.3023C>A (p.Pro1008His) c.3089C>A (p.Pro1030His) c.4118C>A (p.Pro1373His) c.4064C>A (p.Pro1355His) | ClinVar dbSNP |