| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.101726732del | CA254320 | FGF14 | c.502del (p.Arg168AspfsTer13) c.385del (p.Arg129AspfsTer13) c.*91del (n.*91del) c.*306del (n.*306del) c.*401del (n.*401del) c.235del (p.Arg79AspfsTer13) c.487del (p.Arg163AspfsTer13) c.307del (p.Arg103AspfsTer13) c.298del (p.Arg100AspfsTer13) c.391del (p.Arg131AspfsTer13) c.301del (p.Arg101AspfsTer13) c.346del (p.Arg116AspfsTer13) | ClinVar dbSNP |
| 13 | g.101726732T= | CA2114682819 | FGF14 | c.502A= (p.Arg168=) c.385A= (p.Arg129=) c.*91A= (n.*91A=) c.*306A= (n.*306A=) c.*401A= (n.*401A=) c.235A= (p.Arg79=) c.487A= (p.Arg163=) c.307A= (p.Arg103=) c.298A= (p.Arg100=) c.391A= (p.Arg131=) c.301A= (p.Arg101=) c.346A= (p.Arg116=) | dbSNP |