| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16165761G>A | CA7925669 | ABCC6 | c.3168C>T (p.Asp1056=) c.183C>T (p.Asp61=) c.2993C>T (n.2993C>T) c.*377C>T (n.*377C>T) c.3135C>T (p.Asp1045=) c.2826C>T (p.Asp942=) n.3403C>T n.3404C>T n.3030C>T c.3000C>T (p.Asp1000=) c.3204C>T (p.Asp1068=) n.3349C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16165761G>T | CA278633089 | ABCC6 | c.3168C>A (p.Asp1056Glu) c.183C>A (p.Asp61Glu) c.2993C>A (n.2993C>A) c.*377C>A (n.*377C>A) c.3135C>A (p.Asp1045Glu) c.2826C>A (p.Asp942Glu) n.3403C>A n.3404C>A n.3030C>A c.3000C>A (p.Asp1000Glu) c.3204C>A (p.Asp1068Glu) n.3349C>A | ClinVar dbSNP |
| 16 | g.16165761G= | CA2210140017 | ABCC6 | c.3168C= (p.Asp1056=) c.183C= (p.Asp61=) c.2993C= (n.2993C=) c.*377C= (n.*377C=) c.3135C= (p.Asp1045=) c.2826C= (p.Asp942=) n.3403C= n.3404C= n.3030C= c.3000C= (p.Asp1000=) c.3204C= (p.Asp1068=) n.3349C= | dbSNP |