rs1131692222
|
1.000 |
0.080 |
19 |
11123260 |
inframe insertion |
-/CCGACC
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692223
|
1.000 |
0.080 |
19 |
11123300 |
frameshift variant |
C/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692224
|
1.000 |
0.080 |
19 |
11128018 |
inframe deletion |
GTTGCTGGCAGAGGAAATGAGAAGAAGCCC/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692225
|
1.000 |
0.080 |
19 |
11129513 |
frameshift variant |
TCCTCGTCTTCCTTTGC/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692226
|
1.000 |
0.080 |
19 |
11129545 |
missense variant |
C/G
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402767
|
1.000 |
0.080 |
19 |
11105385 |
missense variant |
GC/TT
|
mnv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402768
|
1.000 |
0.080 |
19 |
11105393 |
stop gained |
C/T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402769
|
1.000 |
0.080 |
19 |
11110659 |
frameshift variant |
-/G
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402773
|
1.000 |
0.080 |
19 |
11113360 |
missense variant |
C/G
|
snv
|
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402774
|
1.000 |
0.080 |
19 |
11113650 |
frameshift variant |
G/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402776
|
1.000 |
0.080 |
19 |
11113748 |
splice donor variant |
GATCCTGTTCATGGGTGCG/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402777
|
1.000 |
0.080 |
19 |
11116180 |
frameshift variant |
AAAA/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402778
|
1.000 |
0.080 |
19 |
11116957 |
stop gained |
G/T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402779
|
1.000 |
0.080 |
19 |
11120131 |
frameshift variant |
-/A
|
ins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402780
|
1.000 |
0.080 |
19 |
11123172 |
splice acceptor variant |
A/G
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402784
|
1.000 |
0.080 |
19 |
11128061 |
frameshift variant |
-/CT
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1135402785
|
1.000 |
0.080 |
19 |
11128071 |
frameshift variant |
T/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs113669610
|
0.925 |
0.080 |
19 |
11111557 |
stop gained |
C/A;T
|
snv
|
2.8E-05
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
1999 |
2009 |
rs11547917
|
0.807 |
0.200 |
19 |
11107491 |
stop gained |
C/A;G;T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
7 |
1992 |
2010 |
rs116405216
|
1.000 |
0.080 |
19 |
11110648 |
splice region variant |
G/A;C
|
snv
|
1.9E-03;
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1205480064
|
0.925 |
0.080 |
19 |
11116876 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1208216597
|
0.925 |
0.080 |
19 |
11105590 |
missense variant |
G/A;C
|
snv
|
8.1E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1208667598
|
1.000 |
0.080 |
19 |
11106601 |
missense variant |
C/G
|
snv
|
|
7.0E-06
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121908024
|
0.925 |
0.080 |
19 |
11100252 |
stop gained |
C/T
|
snv
|
8.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
5 |
1990 |
2005 |
rs121908025
|
0.851 |
0.080 |
19 |
11102732 |
missense variant |
T/C;G
|
snv
|
2.8E-05
|
7.0E-06
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.750 |
1.000 |
12 |
1990 |
2006 |