| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.115753241G>C | CA1843063 | DPP10 | c.1018G>C (p.Ala340Pro) c.997G>C (p.Ala333Pro) c.1030G>C (p.Ala344Pro) c.868G>C (p.Ala290Pro) c.1006G>C (p.Ala336Pro) c.766G>C (p.Ala256Pro) n.67+1494C>G c.1069G>C (p.Ala357Pro) c.928G>C (p.Ala310Pro) c.901G>C (p.Ala301Pro) c.256G>C (p.Ala86Pro) c.895G>C (p.Ala299Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.115753241G>T | CA348323517 | DPP10 | c.1018G>T (p.Ala340Ser) c.997G>T (p.Ala333Ser) c.1030G>T (p.Ala344Ser) c.868G>T (p.Ala290Ser) c.1006G>T (p.Ala336Ser) c.766G>T (p.Ala256Ser) n.67+1494C>A c.1069G>T (p.Ala357Ser) c.928G>T (p.Ala310Ser) c.901G>T (p.Ala301Ser) c.256G>T (p.Ala86Ser) c.895G>T (p.Ala299Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.115753241G>A | CA348323516 | DPP10 | c.1018G>A (p.Ala340Thr) c.997G>A (p.Ala333Thr) c.1030G>A (p.Ala344Thr) c.868G>A (p.Ala290Thr) c.1006G>A (p.Ala336Thr) c.766G>A (p.Ala256Thr) n.67+1494C>T c.1069G>A (p.Ala357Thr) c.928G>A (p.Ala310Thr) c.901G>A (p.Ala301Thr) c.256G>A (p.Ala86Thr) c.895G>A (p.Ala299Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.115753241G= | CA1281312535 | DPP10 | c.1018G= (p.Ala340=) c.997G= (p.Ala333=) c.1030G= (p.Ala344=) c.868G= (p.Ala290=) c.1006G= (p.Ala336=) c.766G= (p.Ala256=) n.67+1494C= c.1069G= (p.Ala357=) c.928G= (p.Ala310=) c.901G= (p.Ala301=) c.256G= (p.Ala86=) c.895G= (p.Ala299=) | dbSNP |