Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs999444545
BARD1
2 214781241 frameshift variant -/A delins 1
rs995629797
PALB2
1.000 0.080 16 23626254 stop gained A/T snv 8.0E-06 2.8E-05 2
rs995265408
TH2LCRR ; RAD50
5 132638215 splice donor variant ACAAAAGGCAGG/- delins 1
rs988423880
PMS2
1.000 0.160 7 5999276 splice acceptor variant C/G snv 7.0E-06 3
rs985033810
TP53
0.724 0.280 17 7674232 missense variant C/A;G;T snv 16
rs984874083
MRE11
11 94470473 stop gained T/A snv 4.0E-06 4.2E-05 1
rs981049067
SDHC
1 161356822 stop gained G/A;C snv 1
rs980964237
RAD50
5 132591964 stop gained C/T snv 1
rs9809219
SDHA
0.925 0.120 5 251100 missense variant C/T snv 4.0E-05 1.4E-05 3
rs979212552
MSH2
2 47416395 stop gained C/G;T snv 2
rs972341316
SMARCA4
1.000 0.040 19 10989339 stop gained C/T snv 2
rs951805101
MRE11
11 94486068 stop gained A/C snv 4.0E-06 7.0E-06 1
rs947142407
RAD50
5 132588741 stop gained C/G;T snv 1
rs932830392
MUTYH
1 45330533 stop gained G/A snv 1
rs932256543
FLCN
17 17219162 stop gained C/A;T snv 1
rs9282859
STK11
19 1221294 stop gained C/G;T snv 5.8E-03 1
rs916516745
SDHB
1 17022719 stop gained C/T snv 1
rs905674348
CHEK2
1.000 0.080 22 28725348 stop gained G/A;C snv 7.0E-06 2
rs898854295
SDHC
1.000 0.080 1 161356812 missense variant A/G snv 2.8E-05 2
rs894292181
NF1
1.000 0.120 17 31219104 stop gained C/T snv 7.0E-06 2
rs888691362
MUTYH
0.925 0.160 1 45333423 stop gained C/T snv 7.0E-06 3
rs886058705
BAP1
1.000 3 52404500 frameshift variant TA/- delins 2
rs886042600
APC
1.000 0.120 5 112838077 frameshift variant C/- del 2
rs886042249
RB1
13 48465116 splice region variant G/A snv 1
rs886042035
MEN1
1.000 0.120 11 64808101 splice acceptor variant T/C;G snv 2