| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16154755C>A | CA394884732 | ABCC6 | n.944G>T c.*253G>T (n.*253G>T) c.4081G>T (p.Asp1361Tyr) c.895G>T (p.Asp299Tyr) c.3706G>T (n.3706G>T) c.*1290G>T (n.*1290G>T) c.4048G>T (p.Asp1350Tyr) c.3739G>T (p.Asp1247Tyr) n.539-5026C>A n.3743G>T c.3913G>T (p.Asp1305Tyr) c.4117G>T (p.Asp1373Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.16154755C>T | CA7925316 | ABCC6 | n.944G>A c.*253G>A (n.*253G>A) c.4081G>A (p.Asp1361Asn) c.895G>A (p.Asp299Asn) c.3706G>A (n.3706G>A) c.*1290G>A (n.*1290G>A) c.4048G>A (p.Asp1350Asn) c.3739G>A (p.Asp1247Asn) n.539-5026C>T n.3743G>A c.3913G>A (p.Asp1305Asn) c.4117G>A (p.Asp1373Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |