| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16157770del | CA281569 | ABCC6 | c.3775del (p.Trp1259GlyfsTer14) c.589del (p.Trp197GlyfsTer14) c.3400del (n.3400del) c.*984del (n.*984del) c.3742del (p.Trp1248GlyfsTer14) c.3433del (p.Trp1145GlyfsTer14) n.4010del n.3811del n.539-2011del n.3437del c.3607del (p.Trp1203GlyfsTer14) c.3811del (p.Trp1271GlyfsTer14) n.3956del n.3756del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16157770A= | CA2210129446 | ABCC6 | c.3775T= (p.Trp1259=) c.589T= (p.Trp197=) c.3400T= (n.3400T=) c.*984T= (n.*984T=) c.3742T= (p.Trp1248=) c.3433T= (p.Trp1145=) n.4010T= n.3811T= n.539-2011A= n.3437T= c.3607T= (p.Trp1203=) c.3811T= (p.Trp1271=) n.3956T= n.3756T= | dbSNP dbSNP |