| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237361173C>A | CA10602841 | COL6A3 | c.5540G>T (p.Gly1847Val) c.6158G>T (p.Gly2053Val) c.4337G>T (p.Gly1446Val) c.5558G>T (p.Gly1853Val) c.4937G>T (p.Gly1646Val) c.5657G>T (p.Gly1886Val) c.6155G>T (p.Gly2052Val) c.3752G>T (p.Gly1251Val) | ClinVar dbSNP COSMIC |
| 2 | g.237361173C= | CA1337618709 | COL6A3 | c.5540G= (p.Gly1847=) c.6158G= (p.Gly2053=) c.4337G= (p.Gly1446=) c.5558G= (p.Gly1853=) c.4937G= (p.Gly1646=) c.5657G= (p.Gly1886=) c.6155G= (p.Gly2052=) c.3752G= (p.Gly1251=) | dbSNP |
| 2 | g.237361173C>T | CA351217575 | COL6A3 | c.5540G>A (p.Gly1847Asp) c.6158G>A (p.Gly2053Asp) c.4337G>A (p.Gly1446Asp) c.5558G>A (p.Gly1853Asp) c.4937G>A (p.Gly1646Asp) c.5657G>A (p.Gly1886Asp) c.6155G>A (p.Gly2052Asp) c.3752G>A (p.Gly1251Asp) | ClinVar dbSNP |