| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16177622C>T | CA7925918 | ABCC6 | c.2420G>A (p.Arg807Gln) c.2415+1176G>A (n.2415+1176G>A) c.2387G>A (p.Arg796Gln) c.2078G>A (p.Arg693Gln) n.2655G>A n.2656G>A n.2452+1176G>A c.2252G>A (p.Arg751Gln) c.2456G>A (p.Arg819Gln) n.2601G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.16177622C= | CA2210147304 | ABCC6 | c.2420G= (p.Arg807=) c.2415+1176G= (n.2415+1176G=) c.2387G= (p.Arg796=) c.2078G= (p.Arg693=) n.2655G= n.2656G= n.2452+1176G= c.2252G= (p.Arg751=) c.2456G= (p.Arg819=) n.2601G= | dbSNP |