Gene
|
Exon
|
DNA change
|
Protein change
|
Function
|
Number
|
Prediction
|
ACMG classification
|
---|
PolyPhen
|
SIFT
|
Mutation Taster
|
---|
LDLR
|
3
|
c.285C > G
|
p.C95W
|
nonsynonymous
|
1
|
probably damaging
|
damaging
|
disease causing
|
PM2;PM5;PP3
|
3
|
c.302A > T
|
p.E101V
|
nonsynonymous
|
1
|
probably damaging
|
damaging
|
disease causing
|
PM2;PP3
|
4
|
c.393delC
|
p.D131fs
|
frameshift deletion
|
1
|
NA
|
NA
|
NA
|
PVS;PM2
|
4
|
c.524A > G
|
p.D175G
|
nonsynonymous
|
1
|
probably damaging
|
tolerated
|
disease causing
|
PM2
|
5
|
c.728G > A
|
p.C243Y
|
nonsynonymous
|
1
|
probably damaging
|
damaging
|
disease causing
|
PM2;PP3
|
9
|
c.1206delC
|
p.F402 fs
|
frameshift deletion
|
1
|
NA
|
NA
|
NA
|
PVS;PM2
|
13
|
c.1934A > T
|
p.N645I
|
nonsynonymous
|
1
|
possibly damaging
|
damaging
|
disease causing
|
PM2;PP3
|
APOB
|
26
|
c.10093C > G
|
p.H3365D
|
nonsynonymous
|
1
|
probably damaging
|
damaging
|
polymorphism
|
PM2
|
- NA not applicable, LDLR low-density lipoprotein receptor, APOB apolipoprotein B