| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237361137C>T | CA295335 | COL6A3 | c.5576G>A (p.Gly1859Asp) c.6194G>A (p.Gly2065Asp) c.4373G>A (p.Gly1458Asp) c.5594G>A (p.Gly1865Asp) c.4973G>A (p.Gly1658Asp) c.5693G>A (p.Gly1898Asp) c.6191G>A (p.Gly2064Asp) c.3788G>A (p.Gly1263Asp) | dbSNP COSMIC |
| 2 | g.237361137C= | CA1337618622 | COL6A3 | c.5576G= (p.Gly1859=) c.6194G= (p.Gly2065=) c.4373G= (p.Gly1458=) c.5594G= (p.Gly1865=) c.4973G= (p.Gly1658=) c.5693G= (p.Gly1898=) c.6191G= (p.Gly2064=) c.3788G= (p.Gly1263=) | dbSNP |