| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.155713181del | CA151374 | GUCY1A1 | c.1170del (p.Glu391LysfsTer19) c.396del (p.Glu133LysfsTer19) c.*613del (n.*613del) c.194-3978del (n.194-3978del) c.377-3978del (n.377-3978del) c.465del (p.Glu156LysfsTer19) c.663del (p.Glu222LysfsTer19) | ClinVar dbSNP |
| 4 | g.155713181A= | CA1505466477 | GUCY1A1 | c.1170A= (p.Leu390=) c.396A= (p.Leu132=) c.*613A= (n.*613A=) c.194-3978A= (n.194-3978A=) c.377-3978A= (n.377-3978A=) c.465A= (p.Leu155=) c.663A= (p.Leu221=) | dbSNP dbSNP |