| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23355475dup | CA16041655 | SACS | c.1137dup (p.Glu380ArgfsTer6) n.1275dup c.1128dup (p.Glu377ArgfsTer6) n.3494dup c.-1114dup (n.-1114dup) c.9dup (p.Glu4ArgfsTer6) c.835dup c.696dup (p.Glu233ArgfsTer6) c.1161dup (p.Glu388ArgfsTer6) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23355475T= | CA2078658738 | SACS | c.1137A= (p.Leu379=) n.1275A= c.1128A= (p.Leu376=) n.3494A= c.-1114A= (n.-1114A=) c.9A= (p.Leu3=) c.835A= c.696A= (p.Leu232=) c.1161A= (p.Leu387=) | dbSNP dbSNP |