| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16161463C>T | CA278630443 | ABCC6 | c.3608G>A (p.Gly1203Asp) c.422G>A (p.Gly141Asp) c.3233G>A (n.3233G>A) c.*817G>A (n.*817G>A) c.3575G>A (p.Gly1192Asp) c.3266G>A (p.Gly1089Asp) n.3843G>A n.3644G>A n.260-1233C>T n.607-1233C>T n.3270G>A c.3440G>A (p.Gly1147Asp) c.3408G>A (p.Gly1136=) c.3644G>A (p.Gly1215Asp) n.3789G>A n.3589G>A | ClinVar dbSNP |
| 16 | g.16161463C>A | CA394879687 | ABCC6 | c.3608G>T (p.Gly1203Val) c.422G>T (p.Gly141Val) c.3233G>T (n.3233G>T) c.*817G>T (n.*817G>T) c.3575G>T (p.Gly1192Val) c.3266G>T (p.Gly1089Val) n.3843G>T n.3644G>T n.260-1233C>A n.607-1233C>A n.3270G>T c.3440G>T (p.Gly1147Val) c.3408G>T (p.Gly1136=) c.3644G>T (p.Gly1215Val) n.3789G>T n.3589G>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.16161463C= | CA2210134576 | ABCC6 | c.3608G= (p.Gly1203=) c.422G= (p.Gly141=) c.3233G= (n.3233G=) c.*817G= (n.*817G=) c.3575G= (p.Gly1192=) c.3266G= (p.Gly1089=) n.3843G= n.3644G= n.260-1233C= n.607-1233C= n.3270G= c.3440G= (p.Gly1147=) c.3408G= (p.Gly1136=) c.3644G= (p.Gly1215=) n.3789G= n.3589G= | dbSNP |