| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214947489C>T | CA350793936 | ABCA12,SNHG31 | c.7172G>A (p.Ser2391Asn) c.6218G>A (p.Ser2073Asn) n.7472G>A n.322-336C>T c.7181G>A (p.Ser2394Asn) n.7670G>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.214947489C>G | CA350793935 | ABCA12,SNHG31 | c.7172G>C (p.Ser2391Thr) c.6218G>C (p.Ser2073Thr) n.7472G>C n.322-336C>G c.7181G>C (p.Ser2394Thr) n.7670G>C | ClinVar dbSNP gnomAD v4 |
| 2 | g.214947489C= | CA1327147260 | ABCA12,SNHG31 | c.7172G= (p.Ser2391=) c.6218G= (p.Ser2073=) n.7472G= n.322-336C= c.7181G= (p.Ser2394=) n.7670G= | dbSNP |
| 2 | g.214947489C>A | CA350793934 | ABCA12,SNHG31 | c.7172G>T (p.Ser2391Ile) c.6218G>T (p.Ser2073Ile) n.7472G>T n.322-336C>A c.7181G>T (p.Ser2394Ile) n.7670G>T | ClinVar dbSNP |