Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.15644791G>T | CA351607526 | BTD | c.875G>T (p.Gly292Val) c.399+2734G>T (n.399+2734G>T) c.165+2734G>T (n.165+2734G>T) c.935G>T (p.Gly312Val) c.941G>T (p.Gly314Val) c.653G>T (p.Gly218Val) c.*2653G>T (n.*2653G>T) | ClinVar dbSNP gnomAD v4 |
3 | g.15644791G>A | CA278285 | BTD | c.875G>A (p.Gly292Asp) c.399+2734G>A (n.399+2734G>A) c.165+2734G>A (n.165+2734G>A) c.935G>A (p.Gly312Asp) c.941G>A (p.Gly314Asp) c.653G>A (p.Gly218Asp) c.*2653G>A (n.*2653G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |