| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6687534C>G | CA279908 | ALOX15P1,C17orf100,SLC13A5 | c.1570G>C (p.Asp524His) n.725-5331C>G c.1519G>C (p.Asp507His) c.1441G>C (p.Asp481His) c.239G>C c.1438-1196G>C (n.1438-1196G>C) n.2587G>C n.511-2342C>G n.265-5331C>G c.1459G>C (p.Asp487His) c.*243G>C (n.*243G>C) | ClinVar dbSNP |
| 17 | g.6687534C= | CA2245482569 | ALOX15P1,C17orf100,SLC13A5 | c.1570G= (p.Asp524=) n.725-5331C= c.1519G= (p.Asp507=) c.1441G= (p.Asp481=) c.239G= c.1438-1196G= (n.1438-1196G=) n.2587G= n.511-2342C= n.265-5331C= c.1459G= (p.Asp487=) c.*243G= (n.*243G=) | dbSNP |