Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11116198A>G | CA035639 | LDLR | c.1949A>G (p.Asn650Ser) c.1691A>G (p.Asn564Ser) c.1571A>G (p.Asn524Ser) c.1945A>G c.1187A>G (p.Asn396Ser) c.1568A>G (p.Asn523Ser) c.1310A>G (p.Asn437Ser) c.412A>G n.1841A>G n.1808A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11116198A>C | CA404089432 | LDLR | c.1949A>C (p.Asn650Thr) c.1691A>C (p.Asn564Thr) c.1571A>C (p.Asn524Thr) c.1945A>C c.1187A>C (p.Asn396Thr) c.1568A>C (p.Asn523Thr) c.1310A>C (p.Asn437Thr) c.412A>C n.1841A>C n.1808A>C | ClinVar dbSNP |