| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6693092dup | CA16043054 | ALOX15P1,C17orf100,SLC13A5 | c.1227dup (p.Ile410HisfsTer13) n.952dup c.1176dup (p.Ile393HisfsTer13) c.1098dup (p.Ile367HisfsTer13) n.336dup n.890dup n.492dup c.1116dup (p.Ile373HisfsTer13) | ClinVar dbSNP |
| 17 | g.6693092G= | CA3223488216 | ALOX15P1,C17orf100,SLC13A5 | c.1227C= (p.Gly409=) n.952G= c.1176C= (p.Gly392=) c.1098C= (p.Gly366=) n.336C= n.890G= n.492G= c.1116C= (p.Gly372=) | dbSNP |