| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237367177A>T | CA10604186 | COL6A3 | c.4392T>A (p.Tyr1464Ter) c.340T>A c.5010T>A (p.Tyr1670Ter) c.3189T>A (p.Tyr1063Ter) c.4410T>A (p.Tyr1470Ter) c.3789T>A (p.Tyr1263Ter) c.4509T>A (p.Tyr1503Ter) c.5007T>A (p.Tyr1669Ter) c.2604T>A (p.Tyr868Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.237367177A= | CA1337621075 | COL6A3 | c.4392T= (p.Tyr1464=) c.340T= c.5010T= (p.Tyr1670=) c.3189T= (p.Tyr1063=) c.4410T= (p.Tyr1470=) c.3789T= (p.Tyr1263=) c.4509T= (p.Tyr1503=) c.5007T= (p.Tyr1669=) c.2604T= (p.Tyr868=) | dbSNP |