| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99820081C>T | CA16041256 | VPS13B | c.9028C>T (p.Gln3010Ter) n.9098C>T c.*4710C>T (n.*4710C>T) c.8953C>T (p.Gln2985Ter) c.9025C>T (p.Gln3009Ter) c.8950C>T (p.Gln2984Ter) c.8650C>T (p.Gln2884Ter) c.5914C>T (p.Gln1972Ter) c.4807C>T (p.Gln1603Ter) c.8833C>T (p.Gln2945Ter) c.4585C>T (p.Gln1529Ter) c.7813C>T (p.Gln2605Ter) | ClinVar dbSNP |
| 8 | g.99820081C= | CA3156712828 | VPS13B | c.9028C= (p.Gln3010=) n.9098C= c.*4710C= (n.*4710C=) c.8953C= (p.Gln2985=) c.9025C= (p.Gln3009=) c.8950C= (p.Gln2984=) c.8650C= (p.Gln2884=) c.5914C= (p.Gln1972=) c.4807C= (p.Gln1603=) c.8833C= (p.Gln2945=) c.4585C= (p.Gln1529=) c.7813C= (p.Gln2605=) | dbSNP |