Secondary Findings in a Korean population
When
WES is performed, a large number of variants are identified. Variants that are
not directly related to the specific condition for which WES is performed are
referred to as secondary findings (also called incidental findings). Some of
these exonic variants might be in genes that result in disorders that can be
asymptomatic for a long period and can be prevented or treated. The American
College of Medical Genetics and Genomics (ACMG) has recommended reporting
pathogenic or likely pathogenic variants in a minimum list of 56 genes
associated with 24 medical conditions.
We
classified 13 pathogenic and 13 likely pathogenic variants in 56 genes that may
have clinical actionability according to the guidelines of the American College
of Medical Genetics and Genomics, and the Association for Molecular Pathology.
The carrier frequency of these 26 variants was 2.46% (95% confidence interval
1.73 – 3.46).
|
Chromosome |
Start coordinate |
Reference allele |
Alternate allele |
Gene symbol |
Exonic function |
PVS1 |
PS1 |
PS3 |
PM1 |
PM2 |
PM4 |
PM5 |
PP2 |
PP3 |
PP5 |
BA1 |
BS1 |
BS3 |
BP1 |
BP3 |
BP4 |
BP6 |
BP7 |
Evidence
of pathogenicity |
|
chr1 |
156104245 |
C |
T |
LMNA |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr1 |
17349159 |
G |
A |
SDHB |
nonsynonymous SNV |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr1 |
201333463 |
C |
T |
TNNT2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr1 |
201333479 |
C |
T |
TNNT2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr1 |
237608747 |
C |
T |
RYR2 |
nonsynonymous SNV |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
LP |
|
chr1 |
237729972 |
C |
T |
RYR2 |
nonsynonymous SNV |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
LP |
|
chr1 |
237753260 |
C |
A |
RYR2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr1 |
237765380 |
A |
G |
RYR2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr1 |
237777856 |
G |
C |
RYR2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr1 |
237948187 |
A |
G |
RYR2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr1 |
237955507 |
G |
A |
RYR2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr1 |
45797760 |
T |
C |
MUTYH |
splicing |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr1 |
55505520 |
G |
A |
PCSK9 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
VUS |
|
chr1 |
55505604 |
G |
A |
PCSK9 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr1 |
55518082 |
C |
G |
PCSK9 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr1 |
55518452 |
G |
A |
PCSK9 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
VUS |
|
chr1 |
55525195 |
G |
A |
PCSK9 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr1 |
55529048 |
G |
A |
PCSK9 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr1 |
55529182 |
C |
A |
PCSK9 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
VUS |
|
chr10 |
90699324 |
T |
G |
ACTA2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
NA |
0 |
0 |
0 |
0 |
0 |
NA |
0 |
0 |
0 |
0 |
VUS |
|
chr11 |
2790114 |
C |
T |
KCNQ1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr11 |
2790115 |
G |
A |
KCNQ1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr11 |
2869063 |
G |
A |
KCNQ1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
VUS |
|
chr11 |
47354443 |
G |
A |
MYBPC3 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr11 |
47355161 |
G |
A |
MYBPC3 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
VUS |
|
chr11 |
47355294 |
G |
A |
MYBPC3 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
VUS |
|
chr11 |
47359040 |
C |
A |
MYBPC3 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr11 |
47360114 |
G |
T |
MYBPC3 |
nonsynonymous SNV |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
LP |
|
chr11 |
47360182 |
G |
A |
MYBPC3 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr11 |
47361266 |
C |
T |
MYBPC3 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
VUS |
|
chr11 |
47364234 |
C |
T |
MYBPC3 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
VUS |
|
chr11 |
47369442 |
C |
T |
MYBPC3 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr11 |
47371336 |
G |
A |
MYBPC3 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr12 |
32955486 |
G |
A |
PKP2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
NA |
0 |
0 |
0 |
1 |
0 |
NA |
0 |
0 |
0 |
0 |
VUS |
|
chr12 |
32994073 |
G |
A |
PKP2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
NA |
0 |
0 |
0 |
0 |
0 |
NA |
0 |
0 |
1 |
0 |
VUS |
|
chr12 |
33021869 |
G |
A |
PKP2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
NA |
0 |
1 |
0 |
0 |
0 |
NA |
0 |
0 |
0 |
0 |
VUS |
|
chr12 |
33030861 |
T |
G |
PKP2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
NA |
0 |
0 |
0 |
1 |
0 |
NA |
0 |
0 |
0 |
0 |
VUS |
|
chr13 |
32890650 |
G |
A |
BRCA2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
0 |
VUS |
|
chr13 |
32903579 |
G |
T |
BRCA2 |
splicing |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
P |
|
chr13 |
32906579 |
A |
C |
BRCA2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
0 |
VUS |
|
chr13 |
32907183 |
A |
G |
BRCA2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
VUS |
|
chr13 |
32907359 |
A |
C |
BRCA2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
0 |
LB |
|
chr13 |
32914082 |
G |
A |
BRCA2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr13 |
32914623 |
G |
T |
BRCA2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
0 |
VUS |
|
chr13 |
32914817 |
G |
A |
BRCA2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
1 |
0 |
1 |
1 |
0 |
LB |
|
chr13 |
32914988 |
G |
T |
BRCA2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
VUS |
|
chr13 |
32929042 |
C |
G |
BRCA2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
0 |
LB |
|
chr13 |
32930609 |
C |
T |
BRCA2 |
stopgain |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
P |
|
chr13 |
32930651 |
G |
A |
BRCA2 |
nonsynonymous SNV |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
0 |
VUS |
|
chr13 |
32937362 |
A |
G |
BRCA2 |
nonsynonymous SNV |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr13 |
32968844 |
A |
G |
BRCA2 |
nonsynonymous SNV |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
VUS |
|
chr13 |
49030386 |
C |
A |
RB1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr13 |
49039470 |
C |
G |
RB1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
1 |
0 |
1 |
0 |
0 |
VUS |
|
chr14 |
23883054 |
C |
G |
MYH7 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
VUS |
|
chr14 |
23884924 |
C |
T |
MYH7 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr14 |
23885225 |
C |
G |
MYH7 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr14 |
23887458 |
G |
A |
MYH7 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr14 |
23888715 |
C |
T |
MYH7 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr14 |
23891500 |
C |
T |
MYH7 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr15 |
48718025 |
C |
T |
FBN1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr15 |
48782087 |
C |
T |
FBN1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr15 |
48829846 |
C |
T |
FBN1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr15 |
63335092 |
G |
A |
TPM1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr16 |
15814883 |
C |
T |
MYH11 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
NA |
1 |
0 |
0 |
1 |
0 |
NA |
0 |
0 |
1 |
0 |
VUS |
|
chr16 |
2105507 |
G |
A |
TSC2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
VUS |
|
chr16 |
2121610 |
G |
A |
TSC2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr16 |
2133801 |
C |
T |
TSC2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
VUS |
|
chr17 |
41223202 |
A |
G |
BRCA1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr17 |
41243809 |
C |
T |
BRCA1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
1 |
0 |
1 |
1 |
0 |
VUS |
|
chr17 |
41244100 |
G |
A |
BRCA1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr17 |
41245262 |
T |
A |
BRCA1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr17 |
41245683 |
G |
A |
BRCA1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
VUS |
|
chr17 |
41246724 |
C |
T |
BRCA1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr17 |
41246737 |
C |
T |
BRCA1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr17 |
41256280 |
T |
G |
BRCA1 |
splicing |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
P |
|
chr17 |
41258531 |
G |
A |
BRCA1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr17 |
7579882 |
C |
G |
TP53 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr18 |
29099850 |
G |
A |
DSG2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
NA |
0 |
0 |
0 |
0 |
0 |
NA |
0 |
0 |
0 |
0 |
VUS |
|
chr18 |
29102115 |
A |
G |
DSG2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
NA |
0 |
0 |
0 |
0 |
0 |
NA |
0 |
0 |
0 |
0 |
VUS |
|
chr18 |
29116222 |
A |
C |
DSG2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
NA |
1 |
1 |
0 |
1 |
0 |
NA |
0 |
0 |
0 |
0 |
VUS |
|
chr18 |
29116333 |
T |
G |
DSG2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
NA |
1 |
1 |
0 |
0 |
0 |
NA |
0 |
0 |
0 |
0 |
VUS |
|
chr18 |
29125819 |
C |
T |
DSG2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
NA |
0 |
0 |
0 |
1 |
0 |
NA |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
11213441 |
G |
A |
LDLR |
nonsynonymous SNV |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
LP |
|
chr19 |
11215926 |
G |
A |
LDLR |
nonsynonymous SNV |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
1 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
11217315 |
C |
T |
LDLR |
nonsynonymous SNV |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
VUS |
|
chr19 |
11222192 |
A |
G |
LDLR |
nonsynonymous SNV |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
VUS |
|
chr19 |
11224368 |
G |
A |
LDLR |
nonsynonymous SNV |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
VUS |
|
chr19 |
11224398 |
G |
A |
LDLR |
nonsynonymous SNV |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
VUS |
|
chr19 |
11227576 |
C |
T |
LDLR |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
11231084 |
G |
A |
LDLR |
nonsynonymous SNV |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
LP |
|
chr19 |
11241988 |
C |
T |
LDLR |
nonsynonymous SNV |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
1220473 |
C |
T |
STK11 |
nonsynonymous SNV |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
1226620 |
C |
T |
STK11 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
38949905 |
G |
A |
RYR1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
38959759 |
C |
T |
RYR1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
38980770 |
T |
A |
RYR1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
38991503 |
C |
T |
RYR1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
39008172 |
C |
T |
RYR1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
39039020 |
C |
T |
RYR1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
39062846 |
G |
A |
RYR1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
39070680 |
T |
A |
RYR1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
189873900 |
C |
T |
COL3A1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
21228437 |
A |
G |
APOB |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
21234674 |
C |
T |
APOB |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
47630344 |
C |
A |
MSH2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
47630448 |
G |
A |
MSH2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
47643496 |
C |
T |
MSH2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
47703564 |
G |
A |
MSH2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
47703703 |
A |
G |
MSH2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
47710068 |
C |
T |
MSH2 |
stopgain |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
P |
|
chr2 |
48026185 |
G |
A |
MSH6 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
48026851 |
C |
T |
MSH6 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
48027683 |
A |
T |
MSH6 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
48030612 |
C |
T |
MSH6 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr3 |
10188273 |
C |
T |
VHL |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr3 |
14172430 |
A |
G |
TMEM43 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
NA |
0 |
0 |
0 |
1 |
0 |
NA |
0 |
1 |
0 |
0 |
VUS |
|
chr3 |
30713292 |
C |
T |
TGFBR2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr3 |
37035112 |
T |
C |
MLH1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr3 |
37053562 |
C |
T |
MLH1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
0 |
VUS |
|
chr3 |
37067242 |
C |
T |
MLH1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr3 |
37090048 |
A |
G |
MLH1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr3 |
38591900 |
A |
C |
SCN5A |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr3 |
38592033 |
G |
A |
SCN5A |
stopgain |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
P |
|
chr3 |
38592051 |
C |
T |
SCN5A |
nonsynonymous SNV |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
LP |
|
chr3 |
38592968 |
C |
T |
SCN5A |
nonsynonymous SNV |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
LP |
|
chr3 |
38595804 |
G |
C |
SCN5A |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr3 |
38607905 |
C |
T |
SCN5A |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
1 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
LP |
|
chr3 |
38618271 |
G |
A |
SCN5A |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
VUS |
|
chr3 |
38639416 |
C |
T |
SCN5A |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr3 |
38640489 |
G |
A |
SCN5A |
nonsynonymous SNV |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
LP |
|
chr3 |
38645498 |
A |
C |
SCN5A |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
1 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr3 |
38648281 |
C |
T |
SCN5A |
nonsynonymous SNV |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
LP |
|
chr3 |
38651267 |
C |
T |
SCN5A |
nonsynonymous SNV |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
LP |
|
chr3 |
38651285 |
C |
T |
SCN5A |
nonsynonymous SNV |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr3 |
46902303 |
G |
C |
MYL3 |
nonsynonymous SNV |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
NA |
0 |
1 |
0 |
0 |
0 |
NA |
0 |
0 |
0 |
0 |
LP |
|
chr5 |
112151233 |
G |
C |
APC |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr5 |
112174669 |
C |
G |
APC |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr5 |
112175346 |
T |
C |
APC |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr5 |
112177203 |
C |
G |
APC |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr5 |
112178256 |
A |
G |
APC |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
VUS |
|
chr5 |
112179623 |
G |
T |
APC |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
VUS |
|
chr6 |
7574952 |
A |
G |
DSP |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr6 |
7580466 |
T |
G |
DSP |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr6 |
7581164 |
A |
G |
DSP |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
VUS |
|
chr6 |
7581641 |
G |
A |
DSP |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
VUS |
|
chr6 |
7585950 |
A |
C |
DSP |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
1 |
0 |
VUS |
|
chr7 |
150644799 |
G |
A |
KCNH2 |
nonsynonymous SNV |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
1 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
LP |
|
chr7 |
150656686 |
C |
G |
KCNH2 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr9 |
135772927 |
G |
C |
TSC1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
NA |
0 |
0 |
0 |
1 |
0 |
NA |
0 |
1 |
1 |
0 |
VUS |
|
chr9 |
135785971 |
G |
A |
TSC1 |
nonsynonymous SNV |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
NA |
0 |
0 |
0 |
1 |
0 |
NA |
0 |
1 |
0 |
0 |
LB |
|
chr1 |
55529225 |
- |
A |
PCSK9 |
frameshift insertion |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
NA |
0 |
0 |
0 |
0 |
0 |
0 |
NA |
0 |
0 |
VUS |
|
chr1 |
201047146 |
ACATGAAGT |
- |
CACNA1S |
nonframeshift deletion |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr1 |
237821305 |
A |
- |
RYR2 |
frameshift deletion |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
21230746 |
- |
C |
APOB |
frameshift insertion |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
21233012 |
CTT |
- |
APOB |
nonframeshift deletion |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
47635601 |
TCT |
- |
MSH2 |
nonframeshift deletion |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
47656934 |
AAG |
- |
MSH2 |
nonframeshift deletion |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr2 |
48033792 |
TAAC |
- |
MSH6 |
splicing |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr3 |
37067124 |
ACAGAC |
- |
MLH1 |
frameshift deletion |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
P |
|
chr3 |
46904880 |
T |
- |
MYL3 |
frameshift deletion |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
P |
|
chr3 |
123419184 |
GCAGGCTTGGCGTTGCCCATTGGCTTCAGGGTCTCA |
- |
MYLK |
nonframeshift deletion |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
VUS |
|
chr5 |
112174736 |
GAA |
- |
APC |
nonframeshift deletion |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr5 |
112179199 |
TGG |
- |
APC |
nonframeshift deletion |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr6 |
7581299 |
AAG |
- |
DSP |
nonframeshift deletion |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr6 |
7585963 |
CGGGGTCCCGCTCCGGCTCCCGCT |
- |
DSP |
nonframeshift deletion |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
VUS |
|
chr9 |
101867538 |
GGCGGCGGCGGC |
- |
TGFBR1 |
nonframeshift deletion |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
VUS |
|
chr10 |
43572749 |
- |
TGCTGCTGC |
RET |
nonframeshift insertion |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr11 |
2869073 |
CCCCCGGCAGCGGCGGCC |
- |
KCNQ1 |
nonframeshift deletion |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
NA |
0 |
0 |
0 |
0 |
0 |
0 |
NA |
0 |
0 |
VUS |
|
chr11 |
47359101 |
TCT |
- |
MYBPC3 |
nonframeshift deletion |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr11 |
47364409 |
C |
- |
MYBPC3 |
frameshift deletion |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
P |
|
chr12 |
32994066 |
CGTCAGCGTAAGCAATGCTTCTGTTATCATGAGATTCTT |
- |
PKP2 |
nonframeshift deletion |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr13 |
32893306 |
AAC |
- |
BRCA2 |
nonframeshift deletion |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr13 |
32900649 |
- |
AAA |
BRCA2 |
nonframeshift insertion |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr13 |
32913559 |
A |
- |
BRCA2 |
frameshift deletion |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
P |
|
chr13 |
32915215 |
AG |
- |
BRCA2 |
frameshift deletion |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
P |
|
chr13 |
32944641 |
GGA |
- |
BRCA2 |
nonframeshift deletion |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr13 |
32950891 |
AA |
- |
BRCA2 |
frameshift deletion |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
P |
|
chr17 |
41246624 |
GC |
- |
BRCA1 |
frameshift deletion |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
P |
|
chr18 |
28650708 |
G |
- |
DSC2 |
frameshift deletion |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
P |
|
chr18 |
29126063 |
- |
AAT |
DSG2 |
nonframeshift insertion |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
1223099 |
GGCGCG |
- |
STK11 |
nonframeshift deletion |
0 |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
39008072 |
- |
G |
RYR1 |
frameshift insertion |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
39015999 |
AAG |
- |
RYR1 |
nonframeshift deletion |
0 |
0 |
0 |
0 |
0 |
1 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
VUS |
|
chr19 |
39055762 |
- |
GGGCGC |
RYR1 |
nonframeshift insertion |
0 |
0 |
0 |
1 |
1 |
0 |
0 |
0 |
NA |
0 |
0 |
0 |
0 |
0 |
1 |
NA |
0 |
0 |
VUS |
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