Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11120436C>T | CA023628 | LDLR | c.2312C>T (p.Pro771Leu) c.*123C>T (n.*123C>T) c.1934C>T (p.Pro645Leu) c.2054C>T (p.Pro685Leu) c.2308C>T c.1550C>T (p.Pro517Leu) c.1931C>T (p.Pro644Leu) c.1606+203C>T (n.1606+203C>T) c.1673C>T (p.Pro558Leu) n.2064C>T n.2171C>T n.2031C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11120436C>A | CA404093679 | LDLR | c.2312C>A (p.Pro771Gln) c.*123C>A (n.*123C>A) c.1934C>A (p.Pro645Gln) c.2054C>A (p.Pro685Gln) c.2308C>A c.1550C>A (p.Pro517Gln) c.1931C>A (p.Pro644Gln) c.1606+203C>A (n.1606+203C>A) c.1673C>A (p.Pro558Gln) n.2064C>A n.2171C>A n.2031C>A | ClinVar dbSNP |