| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16154936G>T | CA394875643 | ABCC6 | n.841C>A c.*150C>A (n.*150C>A) c.3978C>A (p.Asp1326Glu) c.792C>A (p.Asp264Glu) c.3603C>A (n.3603C>A) c.*1187C>A (n.*1187C>A) c.3945C>A (p.Asp1315Glu) c.3636C>A (p.Asp1212Glu) n.539-4845G>T n.3640C>A c.3810C>A (p.Asp1270Glu) c.4014C>A (p.Asp1338Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.16154936G>A | CA7925363 | ABCC6 | n.841C>T c.*150C>T (n.*150C>T) c.3978C>T (p.Asp1326=) c.792C>T (p.Asp264=) c.3603C>T (n.3603C>T) c.*1187C>T (n.*1187C>T) c.3945C>T (p.Asp1315=) c.3636C>T (p.Asp1212=) n.539-4845G>A n.3640C>T c.3810C>T (p.Asp1270=) c.4014C>T (p.Asp1338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |