Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189007528G>T | CA349845648 | COL3A1 | c.3185G>T (p.Gly1062Val) c.3284G>T (p.Gly1095Val) c.2528-526G>T (n.2528-526G>T) | ClinVar dbSNP |
2 | g.189007528G>A | CA006271 | COL3A1 | c.3185G>A (p.Gly1062Asp) c.3284G>A (p.Gly1095Asp) c.2528-526G>A (n.2528-526G>A) | ClinVar dbSNP gnomAD v4 COSMIC |