| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67066236G>T | CA323266 | SMAD3 | c.-110+2292G>T (n.-110+2292G>T) c.82G>T (p.Glu28Ter) | ClinVar dbSNP |
| 15 | g.67066236G>C | CA393202842 | SMAD3 | c.-110+2292G>C (n.-110+2292G>C) c.82G>C (p.Glu28Gln) | dbSNP gnomAD v4 |
| 15 | g.67066236G= | CA2184369125 | SMAD3 | c.-110+2292G= (n.-110+2292G=) c.82G= (p.Glu28=) | dbSNP |