rs1131692195
|
1.000 |
0.080 |
19 |
11105471 |
frameshift variant |
GTGT/TG
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692196
|
1.000 |
0.080 |
19 |
11105519 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692197
|
1.000 |
0.080 |
19 |
11105572 |
stop gained |
CAAGGACAAATCTGACGAGGAAA/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692198
|
1.000 |
0.080 |
19 |
11105575 |
protein altering variant |
GGACAAATCTGACGA/AACTGCGGTAAACTGCGGTAAACT
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692200
|
1.000 |
0.080 |
19 |
11106675 |
missense variant |
G/A
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692201
|
1.000 |
0.080 |
19 |
11107433 |
frameshift variant |
G/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692202
|
1.000 |
0.080 |
19 |
11107456 |
frameshift variant |
AG/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692203
|
1.000 |
0.080 |
19 |
11111534 |
missense variant |
C/T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692204
|
1.000 |
0.080 |
19 |
11111567 |
stop gained |
G/T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692205
|
1.000 |
0.080 |
19 |
11111583 |
frameshift variant |
G/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692206
|
1.000 |
0.080 |
19 |
11113510 |
non coding transcript exon variant |
A/G
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692207
|
1.000 |
0.080 |
19 |
11113588 |
missense variant |
G/A
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692208
|
0.925 |
0.160 |
19 |
11113603 |
missense variant |
C/T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692209
|
1.000 |
0.080 |
19 |
11113632 |
frameshift variant |
A/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692210
|
1.000 |
0.080 |
19 |
11113706 |
frameshift variant |
G/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692211
|
1.000 |
0.080 |
19 |
11113742 |
frameshift variant |
C/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692212
|
1.000 |
0.080 |
19 |
11113743 |
inframe deletion |
TGG/-
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692213
|
1.000 |
0.080 |
19 |
11116185 |
missense variant |
A/T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692214
|
1.000 |
0.080 |
19 |
11116889 |
frameshift variant |
AC/T
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692215
|
1.000 |
0.080 |
19 |
11116890 |
inframe insertion |
-/TGT
|
delins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692216
|
1.000 |
0.080 |
19 |
11116897 |
missense variant |
C/G;T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692217
|
1.000 |
0.080 |
19 |
11116897 |
frameshift variant |
-/A
|
ins
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692219
|
1.000 |
0.080 |
19 |
11120092 |
frameshift variant |
GACAAAGTATTTTGGACAGA/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692220
|
1.000 |
0.080 |
19 |
11120426 |
missense variant |
C/T
|
snv
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1131692221
|
1.000 |
0.080 |
19 |
11120443 |
frameshift variant |
C/-
|
del
|
|
|
Hypercholesterolemia, Familial
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|