| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.84037709C>T | CA7706071 | ADAMTSL3 | c.4979C>T (p.Thr1660Ile) c.4987-54C>T (n.4987-54C>T) c.5068-54C>T (n.5068-54C>T) c.5060C>T (p.Thr1687Ile) c.5077C>T (p.Gln1693Ter) c.5051-54C>T (n.5051-54C>T) c.4484C>T (p.Thr1495Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84037709C= | CA2192106372 | ADAMTSL3 | c.4979C= (p.Thr1660=) c.4987-54C= (n.4987-54C=) c.5068-54C= (n.5068-54C=) c.5060C= (p.Thr1687=) c.5077C= (p.Gln1693=) c.5051-54C= (n.5051-54C=) c.4484C= (p.Thr1495=) | dbSNP |
| 15 | g.84037709C>A | CA393346593 | ADAMTSL3 | c.4979C>A (p.Thr1660Lys) c.4987-54C>A (n.4987-54C>A) c.5068-54C>A (n.5068-54C>A) c.5060C>A (p.Thr1687Lys) c.5077C>A (p.Gln1693Lys) c.5051-54C>A (n.5051-54C>A) c.4484C>A (p.Thr1495Lys) | dbSNP gnomAD v4 |
| 15 | g.84037709C>G | CA393346595 | ADAMTSL3 | c.4979C>G (p.Thr1660Arg) c.4987-54C>G (n.4987-54C>G) c.5068-54C>G (n.5068-54C>G) c.5060C>G (p.Thr1687Arg) c.5077C>G (p.Gln1693Glu) c.5051-54C>G (n.5051-54C>G) c.4484C>G (p.Thr1495Arg) | dbSNP |