| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23340810del | CA16041643 | SACS | c.2185+12975del (n.2185+12975del) c.3093del (p.Asn1034MetfsTer10) c.3057del (p.Asn1022MetfsTer10) c.2177-11326del (n.2177-11326del) c.2291+775del (n.2291+775del) c.2318+775del (n.2318+775del) c.2203+6001del (n.2203+6001del) n.4543-11326del c.2220+6001del (n.2220+6001del) c.3066del (p.Asn1025MetfsTer10) c.2186-11326del (n.2186-11326del) c.2431+635del (n.2431+635del) c.816del (p.Asn275MetfsTer10) c.1058-11326del (n.1058-11326del) c.2129+635del c.2625del (p.Asn878MetfsTer10) c.3117del (p.Asn1042MetfsTer10) c.3084del (p.Asn1031MetfsTer10) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23340810A= | CA3200933603 | SACS | c.2185+12975T= (n.2185+12975T=) c.3093T= (p.Ser1031=) c.3057T= (p.Ser1019=) c.2177-11326T= (n.2177-11326T=) c.2291+775T= (n.2291+775T=) c.2318+775T= (n.2318+775T=) c.2203+6001T= (n.2203+6001T=) n.4543-11326T= c.2220+6001T= (n.2220+6001T=) c.3066T= (p.Ser1022=) c.2186-11326T= (n.2186-11326T=) c.2431+635T= (n.2431+635T=) c.816T= (p.Ser272=) c.1058-11326T= (n.1058-11326T=) c.2129+635T= c.2625T= (p.Ser875=) c.3117T= (p.Ser1039=) c.3084T= (p.Ser1028=) | dbSNP |