Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.11970750G>C | CA281017 | PLOD1 | c.1836G>C (p.Trp612Cys) n.383+3659G>C c.1977G>C (p.Trp659Cys) c.1917G>C (p.Trp639Cys) c.1170G>C (p.Trp390Cys) | ClinVar dbSNP |
1 | g.11970750G>A | CA338450087 | PLOD1 | c.1836G>A (p.Trp612Ter) n.383+3659G>A c.1977G>A (p.Trp659Ter) c.1917G>A (p.Trp639Ter) c.1170G>A (p.Trp390Ter) | dbSNP gnomAD v2 gnomAD v4 |