Table 1 Genetic phenotypes of PMI patients
Gene | Function | cDNA position | Protein position | Significance | |
|---|---|---|---|---|---|
LDLR | Missense | c.129G > C | p.Lys43Asn | likely pathogenic | Putative |
LDLR | Missense | c.241C > T | p.Arg81Cys | pathogenic | Known |
LDLR | Missense | c.292G > A | p.Gly98Ser | pathogenic | Known |
LDLR | Missense | c.1525A > G | p.Lys509Glu | pathogenic | Known |
LDLR | Missense | c.1691A > G | p.Asn564Ser | pathogenic | Known |
LDLR | Missense | c.1691A > G | p.Asn564Ser | pathogenic | Known |
LDLR | Missense | c.1867A > T | p.Ile623Phe | likely pathogenic | Putative |
LDLR | Missense | c.2054C > T | p.Pro685Leu | pathogenic | Known |
LDLR | Missense | c.2054C > T | p.Pro685Leu | pathogenic | Known |
LDLR | c.928A > T | p.Ile310Phe | benign | Putative | |
LDLR | c.1057G > A | p.Glu353Lys | benign | Known | |
LDLR | c.1171G > A | p.Ala391Thr | benign | Known | |
LDLR | c.1516G > A | p.Val306Met | benign | Known | |
LDLR | c.2320G > A | p.Asp774Asn | benign | Putative | |
PCSK9 | Missense | c.277C > T | p.Arg93Cys | pathogenic | Known |
PCSK9 | Missense | c.277C > T | p.Arg93Cys | pathogenic | Known |
PCSK9 | Missense | c.277C > T | p.Arg93Cys | pathogenic | Known |
PCSK9 | Missense | c.277C > T | p.Arg93Cys | pathogenic | Known |
PCSK9 | Missense | c.277C > T | p.Arg93Cys | pathogenic | Known |
PCSK9 | Missense | c.277C > T | p.Arg93Cys | pathogenic | Known |
PCSK9 | Missense | c.1792G > A | p.Ala598Thr | likely pathogenic | Putative |
PCSK9 | c.517C > T | p.Pro173Ser | benign | Putative | |
PCSK9 | c.1954A > G | p.Asn652Asp | benign | Putative | |
APOB | Missense | c.10579C > T | p. Arg3527Trp | pathogenic | Known |
LDLRAP1 | Missense | c.65G > C | p.Trp22Ser | likely pathogenic | Putative |
LDLRAP1 | Missense | c.274G > A | p.Val92Met | likely pathogenic | Putative |