| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11129598C>A | CA040801 | LDLR | c.2733C>A (p.Asn911Lys) c.*544C>A (n.*544C>A) c.2355C>A (p.Asn785Lys) c.2475C>A (p.Asn825Lys) c.2729C>A c.1971C>A (p.Asn657Lys) c.2352C>A (p.Asn784Lys) c.1941C>A (p.Asn647Lys) c.2537C>A (p.Thr846Asn) n.108+1944C>A c.2397C>A (p.Asn799Lys) c.2094C>A (p.Asn698Lys) n.2809C>A n.2452C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11129598C>G | CA023675 | LDLR | c.2733C>G (p.Asn911Lys) c.*544C>G (n.*544C>G) c.2355C>G (p.Asn785Lys) c.2475C>G (p.Asn825Lys) c.2729C>G c.1971C>G (p.Asn657Lys) c.2352C>G (p.Asn784Lys) c.1941C>G (p.Asn647Lys) c.2537C>G (p.Thr846Ser) n.108+1944C>G c.2397C>G (p.Asn799Lys) c.2094C>G (p.Asn698Lys) n.2809C>G n.2452C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11129598C= | CA2322780295 | LDLR | c.2733C= (p.Asn911=) c.*544C= (n.*544C=) c.2355C= (p.Asn785=) c.2475C= (p.Asn825=) c.2729C= c.1971C= (p.Asn657=) c.2352C= (p.Asn784=) c.1941C= (p.Asn647=) c.2537C= (p.Thr846=) n.108+1944C= c.2397C= (p.Asn799=) c.2094C= (p.Asn698=) n.2809C= n.2452C= | dbSNP |