| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16154767G>T | CA493799716 | ABCC6 | n.932C>A c.*241C>A (n.*241C>A) c.4069C>A (p.Arg1357=) c.883C>A (p.Arg295=) c.3694C>A (n.3694C>A) c.*1278C>A (n.*1278C>A) c.4036C>A (p.Arg1346=) c.3727C>A (p.Arg1243=) n.539-5014G>T n.3731C>A c.3901C>A (p.Arg1301=) c.4105C>A (p.Arg1369=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.16154767G>A | CA232835 | ABCC6 | n.932C>T c.*241C>T (n.*241C>T) c.4069C>T (p.Arg1357Trp) c.883C>T (p.Arg295Trp) c.3694C>T (n.3694C>T) c.*1278C>T (n.*1278C>T) c.4036C>T (p.Arg1346Trp) c.3727C>T (p.Arg1243Trp) n.539-5014G>A n.3731C>T c.3901C>T (p.Arg1301Trp) c.4105C>T (p.Arg1369Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |