| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23339116del | CA16041636 | SACS | c.2185+14669del (n.2185+14669del) c.4787del (p.His1596LeufsTer?) c.4751del (p.His1584LeufsTer?) c.2177-9632del (n.2177-9632del) c.2291+2469del (n.2291+2469del) c.2318+2469del (n.2318+2469del) c.2203+7695del (n.2203+7695del) n.4543-9632del c.2220+7695del (n.2220+7695del) c.4760del (p.His1587LeufsTer?) c.2186-9632del (n.2186-9632del) c.2431+2329del (n.2431+2329del) c.2510del (p.His837LeufsTer?) c.1058-9632del (n.1058-9632del) c.2129+2329del c.4319del (p.His1440LeufsTer?) c.4811del (p.His1604LeufsTer?) c.4778del (p.His1593LeufsTer?) | ClinVar dbSNP |
| 13 | g.23339116T= | CA2078630860 | SACS | c.2185+14669A= (n.2185+14669A=) c.4787A= (p.His1596=) c.4751A= (p.His1584=) c.2177-9632A= (n.2177-9632A=) c.2291+2469A= (n.2291+2469A=) c.2318+2469A= (n.2318+2469A=) c.2203+7695A= (n.2203+7695A=) n.4543-9632A= c.2220+7695A= (n.2220+7695A=) c.4760A= (p.His1587=) c.2186-9632A= (n.2186-9632A=) c.2431+2329A= (n.2431+2329A=) c.2510A= (p.His837=) c.1058-9632A= (n.1058-9632A=) c.2129+2329A= c.4319A= (p.His1440=) c.4811A= (p.His1604=) c.4778A= (p.His1593=) | dbSNP dbSNP |