| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16182887C>G | CA394888763 | ABCC6 | c.1987G>C (p.Gly663Arg) n.2040-962G>C c.1645G>C (p.Gly549Arg) n.2222G>C n.2223G>C n.2024G>C c.2023G>C (p.Gly675Arg) n.2168G>C | ClinVar dbSNP |
| 16 | g.16182887C>T | CA7926064 | ABCC6 | c.1987G>A (p.Gly663Ser) n.2040-962G>A c.1645G>A (p.Gly549Ser) n.2222G>A n.2223G>A n.2024G>A c.2023G>A (p.Gly675Ser) n.2168G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.16182887C>A | CA7926063 | ABCC6 | c.1987G>T (p.Gly663Cys) n.2040-962G>T c.1645G>T (p.Gly549Cys) n.2222G>T n.2223G>T n.2024G>T c.2023G>T (p.Gly675Cys) n.2168G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.16182887C= | CA2210149762 | ABCC6 | c.1987G= (p.Gly663=) n.2040-962G= c.1645G= (p.Gly549=) n.2222G= n.2223G= n.2024G= c.2023G= (p.Gly675=) n.2168G= | dbSNP |