ABCC11
|
splice-site substitution
|
NM_032583.3:c.395 + 2 T > C (p.?)
|
4
|
− [0.000004061]
|
–
|
BB44
|
0
|
ABCC11
|
nonsense substitution
|
NM_032583.3:c.297G > A (p.Trp99*)
|
4
|
− [0.0007676]
|
rs145048685
|
BB12
|
1x
|
BARD1
|
nonsense substitution
|
NM_000465.3:c.1690C > T (p.Gln564*)
|
8
|
− [0.00002032]
|
rs587780021
|
BB13
|
0
|
BBS10
|
frameshift insertions
|
NM_024685.3:c.271dup (p.Cys91Leufs*5)
|
2
|
− [0.0005626]
|
rs549625604
|
BB15 **
|
1x
|
BBS10
|
frameshift insertions
|
NM_024685.3:c.1543_1546dup (p.Thr516Argfs*7)
|
2
|
− [−]
|
–
|
BB48
|
0
|
CCNH
|
frameshift deletion
|
NM_001239.3:c.643_646del (p.Thr215Profs*21)
|
5
|
− [0.000008149]
|
–
|
BB15**
|
0
|
CD96
|
frameshift insertions
|
NM_198196.2:c.766dup (p.Ile256Asnfs*13)
|
5
|
− [0.00001625]
|
rs766366613
|
BB10
|
0
|
CD96
|
nonsense substitution
|
NM_198196.2:c.1321C > T (p.Arg441*)
|
11
|
− [0.0001056]
|
rs201691670
|
BB54**
|
0
|
CHEK2
|
frameshift deletion
|
NM_001005735.1:c.1229del (p.Thr410Metfs*15)
|
12
|
0.001 [0.002077]
|
rs555607708
|
BB17
|
0
|
CYP1A1
|
frameshift deletion
|
NM_000499.3:c.1371del (p.Cys457*)
|
7
|
0.0006 [0.0009096]
|
rs561096394
|
BB1
|
0
|
DCLRE1A
|
nonsense substitution
|
NM_001271816.1:c.412C > T (p.Arg138*)
|
2
|
0.002 [0.00279]
|
rs41292634
|
BB41
|
0
|
DCLRE1C
|
nonsense substitution
|
NM_001033855.2:c.241C > T (p.Arg81*)
|
3
|
− [0.00001221]
|
rs121908156
|
BB33***
|
0
|
DHCR7
|
splice-site substitution
|
NM_001360.2::c.964-1G > C (p.?)
|
9(8)
|
0.0026 [0.003762]
|
rs138659167
|
BB21
|
0
|
DNAH11
|
frameshift deletion
|
NM_001277115.1:c.2081_2082del (p.Val694Glyfs*2)
|
12
|
− [−]
|
–
|
BB29**
|
0
|
ESCO2
|
frameshift deletion
|
NM_001017420.2:c.876_879del (p.Asp292Glufs*48)
|
4
|
− [0.00000409]
|
rs80359856
|
BB35**
|
0
|
EXO1
|
splice-site substitution
|
NM_006027.4:c.2212-1G > C (p.?)
|
13(12)
|
0.0012 [0.001644]
|
rs4150000
|
BB35**
|
0
|
FANCA
|
splice-site substitution
|
NM_000135.2:c.2152-2A > G (p.?)
|
24(23)
|
− [−]
|
–
|
BB45
|
0
|
FLT4
|
nonsense substitution
|
NM_182925.4:c.3048C > A (p.Cys1016*)
|
22
|
− [−]
|
–
|
BB38
|
0
|
HPS6
|
stop-loss substitution
|
NM_024747.5:c.2326 T > C (p.*776Argext*38)
|
1
|
− [0.0001577]
|
rs200206362
|
BB33***
|
0
|
MUS81
|
nonsense substitution
|
NM_025128.4:c.392G > A (p.Trp131*)
|
4
|
− [0]
|
–
|
BB7
|
0
|
MYH8
|
nonsense substitution
|
NM_002472.2:c.1209C > A (p.Cys403*)
|
13
|
0.0004 [0.001105]
|
rs144321381
|
BB31
|
0
|
NME8
|
splice-site substitution
|
NM_016616.4:c.454 + 1G > A (p.?)
|
8
|
− [0.00006108]
|
rs538425312
|
BB3**
|
0
|
NME8
|
nonsense substitution
|
NM_016616.4:c.1600C > T (p.Arg534*)
|
17
|
0.0008 [0.0003171]
|
rs142525551
|
BB33***
|
0
|
PALB2
|
frameshift insertions
|
NM_024675.3:c.1674dup (p.Gln559Serfs*19)
|
4
|
− [−]
|
–
|
BB36
|
0
|
PDE11A
|
frameshift deletion
|
NM_016953.3:c.1660del (p.Cys554Valfs*14)
|
9
|
0.0008 [0.001214]
|
rs573163079
|
BB5
|
1x
|
RAD51C
|
frameshift deletion
|
NM_058216.2:c.181_182del (p.Leu61Alafs*11)
|
2
|
− [0.00001624]
|
rs754525165
|
BB54**
|
0
|
RECQL4
|
frameshift deletion
|
NM_004260.3:c.1573del (p.Cys525Alafs*33)
|
9
|
− [0.0002387]
|
rs386833845
|
BB52
|
0
|
RECQL4
|
frameshift deletion
|
NM_004260.3:c.3439del (p.Leu1147Cysfs*3)
|
20
|
− [−]
|
–
|
BB34
|
0
|
RINT1
|
nonsense substitution
|
NM_021930.4:c.64G > T (p.Glu22*)
|
2
|
− [−]
|
–
|
BB3**
|
0
|
TDP1
|
frameshift deletion
|
NM_018319.3:c.502del (p.Leu168Serfs*45)
|
3
|
− [0.00002039]
|
rs762302264
|
BB32
|
0
|
TTC8
|
nonsense substitution
|
NM_001288781.1:c.736C > T (p.Gln246*)
|
9
|
− [−]
|
–
|
BB29**
|
0
|