| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71679197C>T | CA16604254 | DYSF | c.3439C>T (p.Pro1147Ser) c.2656C>T (p.Pro886Ser) c.2764C>T (p.Pro922Ser) c.5908C>T (p.Pro1970Ser) c.6025C>T (p.Pro2009Ser) c.5911C>T (p.Pro1971Ser) c.5974C>T (p.Pro1992Ser) c.6022C>T (p.Pro2008Ser) c.6004C>T (p.Pro2002Ser) c.5932C>T (p.Pro1978Ser) c.5959C>T (p.Pro1987Ser) c.5962C>T (p.Pro1988Ser) c.6001C>T (p.Pro2001Ser) c.5971C>T (p.Pro1991Ser) n.2793C>T c.5866C>T (p.Pro1956Ser) c.5929C>T (p.Pro1977Ser) c.5869C>T (p.Pro1957Ser) c.6067C>T (p.Pro2023Ser) c.6064C>T (p.Pro2022Ser) | ClinVar dbSNP gnomAD v4 |
| 2 | g.71679197C= | CA1260156886 | DYSF | c.3439C= (p.Pro1147=) c.2656C= (p.Pro886=) c.2764C= (p.Pro922=) c.5908C= (p.Pro1970=) c.6025C= (p.Pro2009=) c.5911C= (p.Pro1971=) c.5974C= (p.Pro1992=) c.6022C= (p.Pro2008=) c.6004C= (p.Pro2002=) c.5932C= (p.Pro1978=) c.5959C= (p.Pro1987=) c.5962C= (p.Pro1988=) c.6001C= (p.Pro2001=) c.5971C= (p.Pro1991=) n.2793C= c.5866C= (p.Pro1956=) c.5929C= (p.Pro1977=) c.5869C= (p.Pro1957=) c.6067C= (p.Pro2023=) c.6064C= (p.Pro2022=) | dbSNP |