| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16177531G>T | CA278644264 | ABCC6 | c.2511C>A (p.Tyr837Ter) c.2415+1267C>A (n.2415+1267C>A) c.2478C>A (p.Tyr826Ter) c.2169C>A (p.Tyr723Ter) n.2746C>A n.2747C>A n.2452+1267C>A c.2343C>A (p.Tyr781Ter) c.2547C>A (p.Tyr849Ter) n.2692C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.16177531G>A | CA493799802 | ABCC6 | c.2511C>T (p.Tyr837=) c.2415+1267C>T (n.2415+1267C>T) c.2478C>T (p.Tyr826=) c.2169C>T (p.Tyr723=) n.2746C>T n.2747C>T n.2452+1267C>T c.2343C>T (p.Tyr781=) c.2547C>T (p.Tyr849=) n.2692C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.16177531G= | CA2210147259 | ABCC6 | c.2511C= (p.Tyr837=) c.2415+1267C= (n.2415+1267C=) c.2478C= (p.Tyr826=) c.2169C= (p.Tyr723=) n.2746C= n.2747C= n.2452+1267C= c.2343C= (p.Tyr781=) c.2547C= (p.Tyr849=) n.2692C= | dbSNP |