| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16150772G>A | CA493799616 | ABCC6 | c.*381C>T (n.*381C>T) c.4209C>T (p.Ser1403=) c.1023C>T (p.Ser341=) c.3834C>T (n.3834C>T) n.1072C>T c.*1418C>T (n.*1418C>T) c.4176C>T (p.Ser1392=) c.3867C>T (p.Ser1289=) n.538+6482G>A n.3871C>T c.4041C>T (p.Ser1347=) c.4245C>T (p.Ser1415=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.16150772G>T | CA7925255 | ABCC6 | c.*381C>A (n.*381C>A) c.4209C>A (p.Ser1403Arg) c.1023C>A (p.Ser341Arg) c.3834C>A (n.3834C>A) n.1072C>A c.*1418C>A (n.*1418C>A) c.4176C>A (p.Ser1392Arg) c.3867C>A (p.Ser1289Arg) n.538+6482G>T n.3871C>A c.4041C>A (p.Ser1347Arg) c.4245C>A (p.Ser1415Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16150772G= | CA2210135391 | ABCC6 | c.*381C= (n.*381C=) c.4209C= (p.Ser1403=) c.1023C= (p.Ser341=) c.3834C= (n.3834C=) n.1072C= c.*1418C= (n.*1418C=) c.4176C= (p.Ser1392=) c.3867C= (p.Ser1289=) n.538+6482G= n.3871C= c.4041C= (p.Ser1347=) c.4245C= (p.Ser1415=) | dbSNP |
| 16 | g.16150772G>C | CA394884106 | ABCC6 | c.*381C>G (n.*381C>G) c.4209C>G (p.Ser1403Arg) c.1023C>G (p.Ser341Arg) c.3834C>G (n.3834C>G) n.1072C>G c.*1418C>G (n.*1418C>G) c.4176C>G (p.Ser1392Arg) c.3867C>G (p.Ser1289Arg) n.538+6482G>C n.3871C>G c.4041C>G (p.Ser1347Arg) c.4245C>G (p.Ser1415Arg) | ClinVar dbSNP |