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 |