| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237361138C>T | CA215987 | COL6A3 | c.5575G>A (p.Gly1859Ser) c.6193G>A (p.Gly2065Ser) c.4372G>A (p.Gly1458Ser) c.5593G>A (p.Gly1865Ser) c.4972G>A (p.Gly1658Ser) c.5692G>A (p.Gly1898Ser) c.6190G>A (p.Gly2064Ser) c.3787G>A (p.Gly1263Ser) | ClinVar dbSNP |
| 2 | g.237361138C>G | CA10604911 | COL6A3 | c.5575G>C (p.Gly1859Arg) c.6193G>C (p.Gly2065Arg) c.4372G>C (p.Gly1458Arg) c.5593G>C (p.Gly1865Arg) c.4972G>C (p.Gly1658Arg) c.5692G>C (p.Gly1898Arg) c.6190G>C (p.Gly2064Arg) c.3787G>C (p.Gly1263Arg) | ClinVar dbSNP |
| 2 | g.237361138C= | CA1337618630 | COL6A3 | c.5575G= (p.Gly1859=) c.6193G= (p.Gly2065=) c.4372G= (p.Gly1458=) c.5593G= (p.Gly1865=) c.4972G= (p.Gly1658=) c.5692G= (p.Gly1898=) c.6190G= (p.Gly2064=) c.3787G= (p.Gly1263=) | dbSNP |