| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237361132C>T | CA2188419 | COL6A3 | c.5581G>A (p.Glu1861Lys) c.6199G>A (p.Glu2067Lys) c.4378G>A (p.Glu1460Lys) c.5599G>A (p.Glu1867Lys) c.4978G>A (p.Glu1660Lys) c.5698G>A (p.Glu1900Lys) c.6196G>A (p.Glu2066Lys) c.3793G>A (p.Glu1265Lys) | ClinVar dbSNP ExAC gnomAD v2 |
| 2 | g.237361132C= | CA1337618613 | COL6A3 | c.5581G= (p.Glu1861=) c.6199G= (p.Glu2067=) c.4378G= (p.Glu1460=) c.5599G= (p.Glu1867=) c.4978G= (p.Glu1660=) c.5698G= (p.Glu1900=) c.6196G= (p.Glu2066=) c.3793G= (p.Glu1265=) | dbSNP |