| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23337655del | CA16041628 | SACS | c.2185+16130del (n.2185+16130del) c.6248del (p.Asp2083ValfsTer3) c.6212del (p.Asp2071ValfsTer3) c.2177-8171del (n.2177-8171del) c.2291+3930del (n.2291+3930del) c.2318+3930del (n.2318+3930del) c.2204-8171del (n.2204-8171del) n.4543-8171del c.2186-15981del (n.2186-15981del) c.2221-8171del (n.2221-8171del) c.2186-15011del (n.2186-15011del) c.6221del (p.Asp2074ValfsTer3) c.2186-8171del (n.2186-8171del) c.2431+3790del (n.2431+3790del) c.3971del (p.Asp1324ValfsTer3) c.1058-8171del (n.1058-8171del) c.2129+3790del c.5780del (p.Asp1927ValfsTer3) c.6272del (p.Asp2091ValfsTer3) c.6239del (p.Asp2080ValfsTer3) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23337655T= | CA3200933535 | SACS | c.2185+16130A= (n.2185+16130A=) c.6248A= (p.Asp2083=) c.6212A= (p.Asp2071=) c.2177-8171A= (n.2177-8171A=) c.2291+3930A= (n.2291+3930A=) c.2318+3930A= (n.2318+3930A=) c.2204-8171A= (n.2204-8171A=) n.4543-8171A= c.2186-15981A= (n.2186-15981A=) c.2221-8171A= (n.2221-8171A=) c.2186-15011A= (n.2186-15011A=) c.6221A= (p.Asp2074=) c.2186-8171A= (n.2186-8171A=) c.2431+3790A= (n.2431+3790A=) c.3971A= (p.Asp1324=) c.1058-8171A= (n.1058-8171A=) c.2129+3790A= c.5780A= (p.Asp1927=) c.6272A= (p.Asp2091=) c.6239A= (p.Asp2080=) | dbSNP |