Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.133766376G>T | CA354608721 | TF | c.1429G>T (p.Ala477Ser) c.99G>T c.1297G>T (p.Ala433Ser) c.1048G>T (p.Ala350Ser) | dbSNP gnomAD v4 |
3 | g.133766376G>A | CA2625298 | TF | c.1429G>A (p.Ala477Thr) c.99G>A c.1297G>A (p.Ala433Thr) c.1048G>A (p.Ala350Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.133766376G>C | CA122567 | TF | c.1429G>C (p.Ala477Pro) c.99G>C c.1297G>C (p.Ala433Pro) c.1048G>C (p.Ala350Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |