| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.161569357G>A | CA254078 | PRKN | c.809C>T (n.809C>T) c.690C>T (n.690C>T) c.931C>T (p.Gln311Ter) c.926C>T n.316C>T n.567C>T n.1038C>T c.358C>T (p.Gln120Ter) c.484C>T (p.Gln162Ter) c.847C>T (p.Gln283Ter) c.635-182480C>T (n.635-182480C>T) c.64C>T (p.Gln22Ter) c.61C>T (p.Gln21Ter) c.928C>T (p.Gln310Ter) c.1045C>T (p.Gln349Ter) c.691C>T (p.Gln231Ter) c.694C>T (p.Gln232Ter) n.1037C>T | ClinVar dbSNP |
| 6 | g.161569357G= | CA1677586384 | PRKN | c.809C= (n.809C=) c.690C= (n.690C=) c.931C= (p.Gln311=) c.926C= n.316C= n.567C= n.1038C= c.358C= (p.Gln120=) c.484C= (p.Gln162=) c.847C= (p.Gln283=) c.635-182480C= (n.635-182480C=) c.64C= (p.Gln22=) c.61C= (p.Gln21=) c.928C= (p.Gln310=) c.1045C= (p.Gln349=) c.691C= (p.Gln231=) c.694C= (p.Gln232=) n.1037C= | dbSNP |
| 6 | g.161569357G>C | CA366459414 | PRKN | c.809C>G (n.809C>G) c.690C>G (n.690C>G) c.931C>G (p.Gln311Glu) c.926C>G n.316C>G n.567C>G n.1038C>G c.358C>G (p.Gln120Glu) c.484C>G (p.Gln162Glu) c.847C>G (p.Gln283Glu) c.635-182480C>G (n.635-182480C>G) c.64C>G (p.Gln22Glu) c.61C>G (p.Gln21Glu) c.928C>G (p.Gln310Glu) c.1045C>G (p.Gln349Glu) c.691C>G (p.Gln231Glu) c.694C>G (p.Gln232Glu) n.1037C>G | dbSNP gnomAD v4 |