| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99871527del | CA16041278 | VPS13B | c.*1304del (n.*1304del) n.12280del c.*7332del (n.*7332del) c.11575del (p.His3859MetfsTer7) c.11650del (p.His3884MetfsTer7) n.1152del c.11647del (p.His3883MetfsTer7) c.11572del (p.His3858MetfsTer7) c.11272del (p.His3758MetfsTer7) c.8536del (p.His2846MetfsTer7) c.7429del (p.His2477MetfsTer7) c.11455del (p.His3819MetfsTer7) c.7207del (p.His2403MetfsTer7) c.10435del (p.His3479MetfsTer7) | ClinVar dbSNP |
| 8 | g.99871527C= | CA3156712832 | VPS13B | c.*1304C= (n.*1304C=) n.12280C= c.*7332C= (n.*7332C=) c.11575C= (p.His3859=) c.11650C= (p.His3884=) n.1152C= c.11647C= (p.His3883=) c.11572C= (p.His3858=) c.11272C= (p.His3758=) c.8536C= (p.His2846=) c.7429C= (p.His2477=) c.11455C= (p.His3819=) c.7207C= (p.His2403=) c.10435C= (p.His3479=) | dbSNP dbSNP |