| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.30874473G>C | CA339557232 | SDC3 | c.986C>G (p.Thr329Arg) c.812C>G (p.Thr271Arg) c.989C>G (p.Thr330Arg) c.953C>G (p.Thr318Arg) c.950C>G (p.Thr317Arg) c.911C>G (p.Thr304Arg) c.860C>G (p.Thr287Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.30874473G>A | CA122688 | SDC3 | c.986C>T (p.Thr329Ile) c.812C>T (p.Thr271Ile) c.989C>T (p.Thr330Ile) c.953C>T (p.Thr318Ile) c.950C>T (p.Thr317Ile) c.911C>T (p.Thr304Ile) c.860C>T (p.Thr287Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.30874473G= | CA1139926514 | SDC3 | c.986C= (p.Thr329=) c.812C= (p.Thr271=) c.989C= (p.Thr330=) c.953C= (p.Thr318=) c.950C= (p.Thr317=) c.911C= (p.Thr304=) c.860C= (p.Thr287=) | dbSNP |
| 1 | g.30874473G>T | CA339557233 | SDC3 | c.986C>A (p.Thr329Lys) c.812C>A (p.Thr271Lys) c.989C>A (p.Thr330Lys) c.953C>A (p.Thr318Lys) c.950C>A (p.Thr317Lys) c.911C>A (p.Thr304Lys) c.860C>A (p.Thr287Lys) | dbSNP |