| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23338092dup | CA16041629 | SACS | c.2185+15693dup (n.2185+15693dup) c.5811dup (p.Arg1938ThrfsTer6) c.5775dup (p.Arg1926ThrfsTer6) c.2177-8608dup (n.2177-8608dup) c.2291+3493dup (n.2291+3493dup) c.2318+3493dup (n.2318+3493dup) c.2204-8608dup (n.2204-8608dup) n.4543-8608dup c.2221-8608dup (n.2221-8608dup) c.2186-15448dup (n.2186-15448dup) c.5784dup (p.Arg1929ThrfsTer6) c.2186-8608dup (n.2186-8608dup) c.2431+3353dup (n.2431+3353dup) c.3534dup (p.Arg1179ThrfsTer6) c.1058-8608dup (n.1058-8608dup) c.2129+3353dup c.5343dup (p.Arg1782ThrfsTer6) c.5835dup (p.Arg1946ThrfsTer6) c.5802dup (p.Arg1935ThrfsTer6) | ClinVar dbSNP |
| 13 | g.23338092T= | CA3200933536 | SACS | c.2185+15693A= (n.2185+15693A=) c.5811A= (p.Leu1937=) c.5775A= (p.Leu1925=) c.2177-8608A= (n.2177-8608A=) c.2291+3493A= (n.2291+3493A=) c.2318+3493A= (n.2318+3493A=) c.2204-8608A= (n.2204-8608A=) n.4543-8608A= c.2221-8608A= (n.2221-8608A=) c.2186-15448A= (n.2186-15448A=) c.5784A= (p.Leu1928=) c.2186-8608A= (n.2186-8608A=) c.2431+3353A= (n.2431+3353A=) c.3534A= (p.Leu1178=) c.1058-8608A= (n.1058-8608A=) c.2129+3353A= c.5343A= (p.Leu1781=) c.5835A= (p.Leu1945=) c.5802A= (p.Leu1934=) | dbSNP dbSNP |