| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.57654133G>A | CA495636557 | ADGRG1 | c.768G>A (p.Glu256=) n.803G>A c.783G>A (p.Glu261=) c.*431G>A (n.*431G>A) c.253G>A c.258G>A (p.Glu86=) c.243G>A (p.Glu81=) c.612G>A (p.Glu204=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.57654133G>C | CA271552 | ADGRG1 | c.768G>C (p.Glu256Asp) n.803G>C c.783G>C (p.Glu261Asp) c.*431G>C (n.*431G>C) c.253G>C c.258G>C (p.Glu86Asp) c.243G>C (p.Glu81Asp) c.612G>C (p.Glu204Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |