| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.230177560A>G | CA2154463 | SP110 | c.959T>C (p.Met320Thr) c.1568T>C (p.Met523Thr) c.1418T>C (p.Met473Thr) n.290T>C n.2384T>C c.1586T>C (p.Met529Thr) c.1562T>C (p.Met521Thr) n.222T>C c.1436T>C (p.Met479Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.230177560A= | CA1334207166 | SP110 | c.959T= (p.Met320=) c.1568T= (p.Met523=) c.1418T= (p.Met473=) n.290T= n.2384T= c.1586T= (p.Met529=) c.1562T= (p.Met521=) n.222T= c.1436T= (p.Met479=) | dbSNP |