| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.28405927dup | CA345075 | SLC46A1 | c.194dup (p.Cys66LeufsTer?) c.-29dup (n.-29dup) n.248dup c.-36-453dup (n.-36-453dup) n.89+476dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.28405927del | CA026500 | SLC46A1 | c.194del (p.Gly65AlafsTer25) c.-29del (n.-29del) n.248del c.-36-453del (n.-36-453del) n.89+476del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |