NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs)Pathogenic
Hypercholesterolemia, familial, 4|Familial hypercholesterolemia|not provided|Cardiovascular phenotype
β
β
ββ2026β Residue 202
NM_015627.3(LDLRAP1):c.71del (p.Gly24fs)Pathogenic
Hypercholesterolemia, familial, 4|not provided|Familial hypercholesterolemia|Cardiovascular phenotype
β
β
ββ2025β Residue 24
NM_015627.3(LDLRAP1):c.66G>A (p.Trp22Ter)Pathogenic
Hypercholesterolemia, familial, 4|Familial hypercholesterolemia
β
β
ββ2025β Residue 22
NM_015627.3(LDLRAP1):c.113del (p.Thr38fs)Pathogenic
Hypercholesterolemia, familial, 4|Familial hypercholesterolemia
β
β
ββ2025β Residue 38
NM_015627.3(LDLRAP1):c.143del (p.Phe48fs)Pathogenic
Hypercholesterolemia, familial, 4|Cardiovascular phenotype
β
β
ββ2025β Residue 48
NM_015627.3(LDLRAP1):c.604delinsCC (p.Ser202fs)Pathogenic
Cardiovascular phenotype|Familial hypercholesterolemia
β
β
ββ2025β Residue 202
NM_015627.3(LDLRAP1):c.748-608G>ALikely pathogenic
Cardiovascular phenotype|not provided
β
β
ββ2025
NM_015627.3(LDLRAP1):c.431dup (p.His144fs)Pathogenic
Hypercholesterolemia, familial, 4|not provided|Cardiovascular phenotype|Familial hypercholesterolemia
β
β
ββ2025β Residue 144
NM_015627.3(LDLRAP1):c.89-1G>CPathogenic
Hypercholesterolemia, familial, 4|Familial hypercholesterolemia
β
β
ββ2025
NM_015627.3(LDLRAP1):c.3G>A (p.Met1Ile)Likely pathogenic
Hypercholesterolemia, familial, 4|Familial hypercholesterolemia
β
β
ββ2025β Residue 1
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs)Pathogenic
Hypercholesterolemia, familial, 4|Familial hypercholesterolemia
β
β
ββ2025β Residue 25
NM_015627.3(LDLRAP1):c.1A>G (p.Met1Val)Likely pathogenic
Hypercholesterolemia, familial, 4|Cardiovascular phenotype|Familial hypercholesterolemia
β
β
ββ2025β Residue 1
NM_015627.3(LDLRAP1):c.649G>T (p.Glu217Ter)Pathogenic
Autosomal recessive inheritance|Hypercholesterolemia, familial, 4|Familial hypercholesterolemia
β
β
ββ2024β Residue 217
NM_015627.3(LDLRAP1):c.402del (p.Ser135fs)Pathogenic
Hypercholesterolemia, familial, 4
β
β
ββ2024β Residue 135
NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter)Pathogenic
Hypercholesterolemia, familial, 4|Familial hypercholesterolemia|Cardiovascular phenotype
β
β
ββ2024β Residue 136
NM_015627.3(LDLRAP1):c.65G>A (p.Trp22Ter)Pathogenic
Hypercholesterolemia, familial, 4|Familial hypercholesterolemia
β
β
ββ2024β Residue 22
NM_015627.3(LDLRAP1):c.533-1G>ALikely pathogenic
Hypercholesterolemia, familial, 4|Familial hypercholesterolemia
β
β
ββ2024
NM_015627.3(LDLRAP1):c.112_113del (p.Thr38fs)Pathogenic
not provided|Hypercholesterolemia, familial, 4|Familial hypercholesterolemia
β
β
ββ2024β Residue 38
NM_015627.3(LDLRAP1):c.466del (p.Ala156fs)Pathogenic
Familial hypercholesterolemia|Hypercholesterolemia, familial, 4
β
β
ββ2024β Residue 156
NM_015627.3(LDLRAP1):c.344+1G>APathogenic
Hypercholesterolemia, familial, 4|Cardiovascular phenotype|Familial hypercholesterolemia
β
β
ββ2024