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Патогенные
Патогенные
Pathogenic, Likely Pathogenic, VUS
Все мутации
Pathogenic, Likely Pathogenic, VUS или частота в gnomAD не более 1% и не в интронах или между генами
Все варианты
Не в интронах или между генами
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Ген
hg19
Транскрипт
кДНК
Белок
Функция
Локализация
Патогенность
Частота в gnomAD
gMAX
Частота
в проекте
Частота
в экзомах
*
BRCA1
chr17:41209079 T>TG
NM_007294.3
c.5266dupC
p.Q1756fs
frameshift ins
exon
Pathogenic
0.0004
NFE
0.0383
186/4852
0.0022
3/1386
CHEK2
chr22:29121087 A>G
NM_007194.3
c.470T>C
p.I157T
missense
exon
Likely pathogenic
0.0161
NFE
0.0231
112/4852
0.0166
23/1384
CDH1
chr16:68844220 T>G
NM_004360.4
c.808T>G
p.S270A
missense
exon
VUS
0.0018
NFE
0.0056
27/4852
0.0043
6/1382
BRCA1
chr17:41243512 CT>C
NM_007294.3
c.4035delA
p.E1345fs
frameshift del
exon
Pathogenic
0.0005
NFE
0.0047
23/4852
–
MLH1
chr3:37035032 C>T
NM_000249.3
c.-7C>T
5'UTR
VUS
0.0004
NFE
0.0039
19/4852
0.0037
5/1350
MLH1
chr3:37067410 G>A
NM_000249.3
c.1321G>A
p.A441T
missense
exon
VUS
0.0016
NFE
0.0035
17/4852
0.0036
5/1386
PMS2
chr7:6045600 C>G
NM_000535.6
c.86G>C
p.G29A
missense
exon
VUS
0.0007
NFE
0.0033
16/4852
0.0072
10/1386
CHEK2
chr22:29091856 AG>A
NM_007194.3
c.1100delC
p.T367fs
frameshift del
exon
Pathogenic
0.0025
NFE
0.0027
13/4852
–
BRCA1
chr17:41258504 A>C
NM_007294.3
c.181T>G
p.C61G
missense
exon
Pathogenic
–
0.0027
13/4852
–
BRCA2
chr13:32889548 C>T
NM_000059.3
c.-1050C>T
upstream
VUS
0.0049
NFE
0.0027
13/4852
–
BRCA1
chr17:41245586 CT>C
NM_007294.3
c.1961delA
p.K654fs
frameshift del
exon
Pathogenic
0.00006673
NFE
0.0023
11/4852
–
BRCA1
chr17:41215382 G>A
NM_007294.3
c.5161C>T
p.Q1721X
stop gain
exon
Pathogenic
–
0.0021
10/4852
–
MSH2
chr2:47635588 C>G
NM_000251.2
c.260C>G
p.S87C
missense
exon
VUS
0.00006693
NFE
0.0016
8/4852
0.0014
2/1384
CHEK2
chr22:29121230 C>T
NM_007194.3
c.444+1G>A
splicing
splice site
Pathogenic
0.0002
NFE
0.0016
8/4852
0.0022
3/1386
BRCA1
chr17:41209095 G>A
NM_007294.3
c.5251C>T
p.R1751X
stop gain
exon
Pathogenic
0.0001
AFR
0.0014
7/4852
–
BRCA1
chr17:41226348 C>T
NM_007294.3
c.4675G>A
p.E1559K
missense
exon
Pathogenic
0.00006665
NFE
0.0014
7/4852
–
PALB2
chr16:23646274 CA>C
NM_024675.3
c.1592delT
p.L531fs
frameshift del
exon
Pathogenic
0
NFE
0.0014
7/4852
0.0007
1/1386
BRCA2
chr13:32912240 G>GA
NM_000059.3
c.3749dupA
p.E1250fs
frameshift ins
exon
Pathogenic
–
0.0012
6/4852
–
BRCA2
chr13:32906576 C>CAA
NM_000059.3
c.961_962insAA
p.Q321fs
frameshift ins
exon
Pathogenic
–
0.0012
6/4852
–
BRCA1
chr17:41276044 ACT>A
NM_007294.3
c.68_69del
p.E23fs
frameshift del
exon
Pathogenic
0
NFE
0.0012
6/4852
–
MSH6
chr2:48025785 A>C
NM_000179.2
c.663A>C
p.E221D
missense
exon
VUS
0.0009
NFE
0.0012
6/4852
0.0007
1/1386
CHEK2
chr22:29099503 CAATAT>C
NM_007194.3
c.893_897del
p.Y298fs
frameshift del
exon
Pathogenic
–
0.0012
6/4852
0.0007
1/1380
EPCAM
chr2:47612302 C>G
NM_002354.2
c.859-3C>G
splicing
splice site
VUS
0.0003
NFE
0.001
5/4852
0.0022
3/1386
BRCA2
chr13:32911388 ACT>A
NM_000059.3
c.2897_2898del
p.T966fs
frameshift del
exon
Pathogenic
–
0.001
5/4852
–
CDH1
chr16:68845646 G>A
NM_004360.4
c.892G>A
p.A298T
missense
exon
VUS
0.0004
NFE
0.001
5/4852
–
BRCA1
chr17:41243843 GTTTAC>G
NM_007294.3
c.3700_3704del
p.V1234fs
frameshift del
exon
Pathogenic
–
0.001
5/4852
–
RAD51D
chr17:33428027 A>T
NM_002878.3
c.932T>A
p.I311N
missense
exon
VUS
0.0062
EAS
0.001
5/4852
0.0022
3/1384
ATM
chr11:108183151 G>T
NM_000051.3
c.5932G>T
p.E1978X
stop gain
exon
Pathogenic
–
0.001
5/4852
0.0007
1/1378
MSH6
chr2:48033775 C>T
NM_000179.2
c.3986C>T
p.S1329L
missense
exon
VUS
0.0001
NFE
0.001
5/4852
0.0014
2/1386
ATM
chr11:108121752 CAG>C
NM_000051.3
c.1561_1562del
p.R521fs
frameshift del
exon
Pathogenic
–
0.0008
4/4852
–
CHEK2
chr22:29130389 A>T
NM_007194.3
c.319+2T>A
splicing
splice site
Pathogenic
0.0006
NFE
0.0008
4/4852
–
CHEK2
chr22:29120962 T>A
NM_007194.3
c.592+3A>T
splicing
splice site
VUS
–
0.0008
4/4852
0.0007
1/1386
RAD51B
chr14:68352608 C>T
NM_001321814.1
c.475C>T
p.R159C
missense
exon
Pathogenic
0.0001
NFE
0.0008
4/4852
–
CDH1
chr16:68863582 G>A
NM_004360.4
c.2321G>A
p.R774K
missense
exon
Likely pathogenic
–
0.0008
4/4852
–
BRCA2
chr13:32913778 T>G
NM_000059.3
c.5286T>G
p.Y1762X
stop gain
exon
Pathogenic
–
0.0008
4/4852
–
PALB2
chr16:23614833 G>A
NM_024675.3
c.3508C>T
p.H1170Y
missense
exon
VUS
0.00006665
NFE
0.0008
4/4852
0.0022
3/1386
BRCA1
chr17:41223242 G>C
NM_007294.3
c.4689C>G
p.Y1563X
stop gain
exon
Pathogenic
–
0.0008
4/4852
–
BRCA2
chr13:32950929 G>A
NM_000059.3
c.8754+1G>A
splicing
splice site
Pathogenic
–
0.0008
4/4852
–
MLH1
chr3:37090075 T>C
NM_000249.3
c.1964T>C
p.I655T
missense
exon
VUS
0.0003
NFE
0.0008
4/4852
0.0014
2/1384
CDH1
chr16:68771347 CGCT>C
NM_004360.4
c.30_32del
p.10_11del
in-frame del
exon
Likely pathogenic
0
NFE
0.0008
4/4852
–
BRCA2
chr13:32914830 AC>A
NM_000059.3
c.6339delC
p.N2113fs
frameshift del
exon
Pathogenic
–
0.0008
4/4852
–
MLH1
chr3:37092067 A>G
NM_000249.3
c.2194A>G
p.K732E
missense
exon
VUS
–
0.0006
3/4852
–
BRCA2
chr13:32906915 AAAAG>A
NM_000059.3
c.1301_1304del
p.K434fs
frameshift del
exon
Pathogenic
–
0.0006
3/4852
–
RAD51C
chr17:56770093 CG>C
NM_058216.2
c.90delG
p.A30fs
frameshift del
exon
Pathogenic
0
NFE
0.0006
3/4852
–
CHEK2
chr22:29095900 T>C
NM_007194.3
c.934A>G
p.K312E
missense
exon
VUS
–
0.0006
3/4852
–
CHEK2
chr22:29121016 G>A
NM_007194.3
c.541C>T
p.R181C
missense
exon
Likely pathogenic
0.0001
AFR
0.0006
3/4852
–
MLH1
chr3:37061861 C>G
NM_000249.3
c.945C>G
p.H315Q
missense
exon
VUS
0.00006662
NFE
0.0006
3/4852
0.0007
1/1388
RAD51B
chr14:68352674 C>T
NM_001321814.1
c.541C>T
p.R181W
missense
exon
Pathogenic
0.0005
NFE
0.0006
3/4852
–
ATM
chr11:108202604 A>C
NM_000051.3
c.7630-2A>C
splicing
splice site
Pathogenic
0.00006665
NFE
0.0006
3/4852
–
BRCA2
chr13:32921023 G>GT
NM_000059.3
c.6998dupT
p.V2333fs
frameshift ins
exon
Pathogenic
–
0.0006
3/4852
–
BRCA2
chr13:32954050 G>A
NM_000059.3
c.9117G>A
p.P3039P
synonymous
exon
Pathogenic
–
0.0006
3/4852
–
BRCA1
chr17:41276047 C>CT
NM_007294.3
c.66dupA
p.E23fs
frameshift ins
exon
Pathogenic
–
0.0006
3/4852
–
BRCA2
chr13:32911297 TAAAC>T
NM_000059.3
c.2806_2809del
p.K936fs
frameshift del
exon
Pathogenic
–
0.0006
3/4852
–
MSH2
chr2:47703678 G>C
NM_000251.2
c.2178G>C
p.M726I
missense
exon
Likely pathogenic
–
0.0004
2/4852
–
MSH2
chr2:47641430 C>T
NM_000251.2
c.815C>T
p.A272V
missense
exon
Likely pathogenic
0.0003
NFE
0.0004
2/4852
0.0007
1/1386
BRCA2
chr13:32912171 CTGAA>C
NM_000059.3
c.3680_3683del
p.L1227fs
frameshift del
exon
Pathogenic
–
0.0004
2/4852
–
PMS2
chr7:6026766 C>T
NM_000535.6
c.1630G>A
p.D544N
missense
exon
VUS
–
0.0004
2/4852
–
BRCA1
chr17:41243917 ACT>A
NM_007294.3
c.3629_3630del
p.E1210fs
frameshift del
exon
Pathogenic
–
0.0004
2/4852
–
BRCA1
chr17:41234451 G>A
NM_007294.3
c.4327C>T
p.R1443X
stop gain
exon
Pathogenic
0.0001
AFR
0.0004
2/4852
–
BRCA2
chr13:32903604 CTG>C
NM_000059.3
c.657_658del
p.T219fs
frameshift del
exon
Pathogenic
0.0002
AFR
0.0004
2/4852
0.0007
1/1370
PALB2
chr16:23647356 ATC>A
NM_024675.3
c.509_510del
p.R170fs
frameshift del
exon
Pathogenic
–
0.0004
2/4852
0.0014
2/1384
MSH6
chr2:48026421 T>G
NM_000179.2
c.1299T>G
p.Y433X
stop gain
exon
Pathogenic
–
0.0004
2/4852
–
PMS2
chr7:6027128 G>C
NM_000535.6
c.1268C>G
p.A423G
missense
exon
VUS
0.0009
NFE
0.0004
2/4852
–
MSH6
chr2:48026360 G>A
NM_000179.2
c.1238G>A
p.W413X
stop gain
exon
Pathogenic
–
0.0004
2/4852
–
BRCA1
chr17:41244404 AC>A
NM_007294.3
c.3143delG
p.G1048fs
frameshift del
exon
Pathogenic
–
0.0004
2/4852
–
PALB2
chr16:23625361 G>T
NM_024675.3
c.3165C>A
p.Y1055X
stop gain
exon
Pathogenic
–
0.0004
2/4852
0.0014
2/1382
BRCA1
chr17:41215969 C>T
NM_007294.3
c.5075-1G>A
splicing
splice site
Pathogenic
–
0.0004
2/4852
–
ATM
chr11:108205832 T>C
NM_000051.3
c.8147T>C
p.V2716A
missense
exon
Pathogenic
0.0001
AFR
0.0004
2/4852
–
BRIP1
chr17:59858343 G>T
NM_032043.2
c.1652C>A
p.A551E
missense
exon
VUS
0.00006662
NFE
0.0004
2/4852
–
TP53
chr17:7577091 G>A
NM_000546.5
c.847C>T
p.R283C
missense
exon
Pathogenic
0.0002
NFE
0.0004
2/4852
–
BRCA2
chr13:32921034 G>A
NM_000059.3
c.7007+1G>A
splicing
splice site
Pathogenic
–
0.0004
2/4852
–
PTEN
chr10:89690828 G>A
NM_000314.6
c.235G>A
p.A79T
missense
exon
VUS
0.0001
NFE
0.0004
2/4852
–
BRCA1
chr17:41244056 ACTAGTATCTTC>A
NM_007294.3
c.3481_3491del
p.E1161fs
frameshift del
exon
Pathogenic
–
0.0004
2/4852
–
MSH6
chr2:48033920 A>C
NM_000179.2
c.4004A>C
p.E1335A
missense
exon
Likely pathogenic
0.0012
AMR
0.0004
2/4852
–
MSH2
chr2:47703697 G>A
NM_000251.2
c.2197G>A
p.A733T
missense
exon
VUS
–
0.0004
2/4852
–
BRCA2
chr13:32910804 T>G
NM_000059.3
c.2312T>G
p.L771X
stop gain
exon
Pathogenic
0.00006666
NFE
0.0004
2/4852
–
MSH6
chr2:48026015 G>A
NM_000179.2
c.893G>A
p.R298Q
missense
exon
VUS
–
0.0004
2/4852
–
MSH6
chr2:48033370 C>T
NM_000179.2
c.3674C>T
p.T1225M
missense
exon
VUS
0.0002
NFE
0.0004
2/4852
0.0014
2/1384
PMS2
chr7:6026801 T>C
NM_000535.6
c.1595A>G
p.H532R
missense
exon
VUS
–
0.0004
2/4852
–
ATM
chr11:108165730 G>A
NM_000051.3
c.4853G>A
p.R1618Q
missense
exon
Pathogenic
–
0.0004
2/4852
–
BRCA1
chr17:41243941 G>A
NM_007294.3
c.3607C>T
p.R1203X
stop gain
exon
Pathogenic
–
0.0004
2/4852
–
BRCA1
chr17:41201137 C>G
NM_007294.3
c.5406+1G>C
splicing
splice site
Pathogenic
–
0.0004
2/4852
–
PMS2
chr7:6017226 C>T
NM_000535.6
c.2438G>A
p.R813Q
missense
exon
VUS
–
0.0004
2/4852
–
CHEK2
chr22:29121015 C>T
NM_007194.3
c.542G>A
p.R181H
missense
exon
VUS
0.0006
EAS
0.0004
2/4852
–
MSH6
chr2:48030603 C>T
NM_000179.2
c.3217C>T
p.P1073S
missense
exon
VUS
0.0001
NFE
0.0004
2/4852
0.0014
2/1388
BRCA2
chr13:32907408 CATCTT>C
NM_000059.3
c.1794_1798del
p.T598fs
frameshift del
exon
Pathogenic
–
0.0004
2/4852
–
BRCA1
chr17:41245968 T>C
NM_007294.3
c.1580A>G
p.K527R
missense
exon
VUS
–
0.0004
2/4852
–
CHEK2
chr22:29091121 C>CT
NM_007194.3
c.1368dupA
p.E457fs
frameshift ins
exon
Pathogenic
–
0.0004
2/4852
0.0022
3/1384
PALB2
chr16:23646627 G>A
NM_024675.3
c.1240C>T
p.R414X
stop gain
exon
Pathogenic
–
0.0004
2/4852
–
BRCA2
chr13:32914647 C>G
NM_000059.3
c.6155C>G
p.S2052X
stop gain
exon
Pathogenic
–
0.0004
2/4852
–
MSH2
chr2:47643484 A>G
NM_000251.2
c.992A>G
p.N331S
missense
exon
VUS
–
0.0004
2/4852
–
BRCA2
chr13:32911788 C>A
NM_000059.3
c.3296C>A
p.S1099X
stop gain
exon
Pathogenic
–
0.0004
2/4852
–
BRCA2
chr13:32915082 CTG>C
NM_000059.3
c.6591_6592del
p.T2197fs
frameshift del
exon
Pathogenic
–
0.0004
2/4852
–
ATM
chr11:108201108 T>G
NM_000051.3
c.7475T>G
p.L2492R
missense
exon
VUS
0.0005
NFE
0.0004
2/4852
0.0015
2/1356
BRCA1
chr17:41244637 GTTTA>G
NM_007294.4
c.2907_2910del
p.Lys970Metfs*29
frameshift
exon
Pathogenic
–
0.0004
2/4852
–
PALB2
chr16:23637699 G>C
NM_024675.3
c.2606C>G
p.S869C
missense
exon
VUS
–
0.0004
2/4852
–
TP53
chr17:7578555 C>CT
NM_000546.5
c.376-1->A
splicing
splice site
VUS
–
0.0002
1/4852
–
ATM
chr11:108206576 G>A
NM_000051.3
c.8156G>A
p.R2719H
missense
exon
VUS
–
0.0002
1/4852
–
BRCA2
chr13:32953959 AT>A
NM_000059.3
c.9027delT
p.Y3009fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
MSH6
chr2:48027795 C>G
NM_000179.2
c.2673C>G
p.I891M
missense
exon
VUS
–
0.0002
1/4852
–
BRCA1
chr17:41243775 TC>T
NM_007294.3
c.3772delG
p.E1258fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32914800 C>A
NM_000059.3
c.6308C>A
p.S2103X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
PMS2
chr7:6026754 C>T
NM_000535.6
c.1642G>A
p.D548N
missense
exon
VUS
–
0.0002
1/4852
–
BRCA1
chr17:41244145 G>A
NM_007294.3
c.3403C>T
p.Q1135X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32914069 T>TA
NM_000059.3
c.5578dupA
p.I1859fs
frameshift ins
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32914939 T>TA
NM_000059.3
c.6448dupA
p.I2149fs
frameshift ins
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32914766 CTT>C
NM_000059.3
c.6275_6276del
p.L2092fs
frameshift del
exon
Pathogenic
0.00006671
NFE
0.0002
1/4852
–
RAD51C
chr17:56774151 A>T
NM_058216.2
c.502A>T
p.R168X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32907434 A>T
NM_000059.3
c.1819A>T
p.K607X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32907420 G>GA
NM_000059.3
c.1806dupA
p.G602fs
frameshift ins
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41246037 CG>C
NM_007294.3
c.1510delC
p.R504fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
CHEK2
chr22:29130412 G>A
NM_007194.3
c.298C>T
p.Q100X
stop gain
exon
Likely pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32932019 G>A
NM_000059.3
c.7758G>A
p.W2586X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32911442 G>GA
NM_000059.3
c.2951dupA
p.E984fs
frameshift ins
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32913971 A>G
NM_000059.3
c.5479A>G
p.I1827V
missense
exon
VUS
–
0.0002
1/4852
–
BRCA1
chr17:41242952 GCTTTTTAC>G
NM_007294.3
c.4185+1_4185+8delGTAAAAAG
splicing
splice site
Pathogenic
–
0.0002
1/4852
–
RAD51D
chr17:33430317 G>A
NM_002878.3
c.694C>T
p.R232X
stop gain
exon
Pathogenic
0.00006664
NFE
0.0002
1/4852
–
MSH2
chr2:47635560 G>C
NM_000251.2
c.232G>C
p.V78L
missense
exon
VUS
–
0.0002
1/4852
–
MLH1
chr3:37050323 A>G
NM_000249.3
c.472A>G
p.N158D
missense
exon
VUS
–
0.0002
1/4852
–
MSH6
chr2:48033789 C>T
NM_000179.2
c.4000C>T
p.R1334W
missense
exon
Likely pathogenic
0.0001
AFR
0.0002
1/4852
–
BRCA1
chr17:41246531 CTT>C
NM_007294.3
c.1015_1016del
p.K339fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41244296 AAGCAT>A
NM_007294.3
c.3247_3251del
p.M1083fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
EPCAM
chr2:47602397 C>G
NM_002354.2
c.450C>G
p.H150Q
missense
exon
VUS
–
0.0002
1/4852
–
BRCA2
chr13:32906565 C>CA
NM_000059.3
c.951dupA
p.T317fs
frameshift ins
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32954009 C>CAGTT
NM_000059.3
c.9076_9077insAGTT
p.Q3026fs
frameshift ins
exon
Pathogenic
–
0.0002
1/4852
–
MSH6
chr2:48027278 C>T
NM_000179.2
c.2156C>T
p.T719I
missense
exon
VUS
0.00006663
NFE
0.0002
1/4852
–
MLH1
chr3:37081755 A>G
NM_000249.3
c.1637A>G
p.K546R
missense
exon
Likely pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41245330 CT>C
NM_007294.3
c.2217delA
p.K739fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
MSH2
chr2:47690245 T>G
NM_000251.2
c.1462T>G
p.L488V
missense
exon
VUS
–
0.0002
1/4852
–
MLH1
chr3:37070330 GA>G
NM_000249.3
c.1466delA
p.E489fs
frameshift del
exon
Likely pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41244839 A>T
NM_007294.3
c.2709T>A
p.C903X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
PALB2
chr16:23641202 G>A
NM_024675.3
c.2273C>T
p.P758L
missense
exon
VUS
0.0006
EAS
0.0002
1/4852
–
MLH1
chr3:37067179 A>C
NM_000249.3
c.1090A>C
p.T364P
missense
exon
VUS
–
0.0002
1/4852
–
MSH6
chr2:48030639 A>AC
NM_000179.2
c.3254dupC
p.T1085fs
frameshift ins
exon
Pathogenic
0.0001
AFR
0.0002
1/4852
–
PALB2
chr16:23641218 G>A
NM_024675.3
c.2257C>T
p.R753X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41209068 C>T
NM_007294.3
c.5277+1G>A
splicing
splice site
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41197774 A>T
NM_007294.3
c.5513T>A
p.V1838E
missense
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41226471 G>A
NM_007294.3
c.4552C>T
p.Q1518X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32914137 C>A
NM_000059.3
c.5645C>A
p.S1882X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32912353 TAATA>T
NM_000059.3
c.3862_3865del
p.N1288fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
MSH6
chr2:48027625 C>G
NM_000179.2
c.2503C>G
p.Q835E
missense
exon
VUS
–
0.0002
1/4852
–
BRCA1
chr17:41244016 TA>T
NM_007294.3
c.3531delT
p.F1177fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
STK11
chr19:1218493 A>G
NM_000455.4
c.368A>G
p.Q123R
missense
exon
Likely pathogenic
0.00006669
NFE
0.0002
1/4852
–
PALB2
chr16:23646192 GAATA>G
NM_024675.3
c.1671_1674del
p.F557fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
PMS2
chr7:6027209 A>G
NM_000535.6
c.1187T>C
p.M396T
missense
exon
VUS
–
0.0002
1/4852
–
BRCA1
chr17:41226515 GA>G
NM_007294.3
c.4507delT
p.S1503fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
EPCAM
chr2:47606093 A>C
NM_002354.2
c.557A>C
p.Y186S
missense
exon
VUS
0.00006662
NFE
0.0002
1/4852
–
BRCA2
chr13:32914109 GTAAT>G
NM_000059.3
c.5618_5621del
p.V1873fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41222939 A>G
NM_007294.3
c.4986+6T>C
splicing
intron
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32936733 A>T
NM_000059.3
c.7879A>T
p.I2627F
missense
exon
Pathogenic
–
0.0002
1/4852
–
MSH6
chr2:48030645 C>T
NM_000179.2
c.3259C>T
p.P1087S
missense
exon
VUS
0.0003
NFE
0.0002
1/4852
–
BRCA2
chr13:32918745 G>GA
NM_000059.3
c.6893dupA
p.E2298fs
frameshift ins
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41215890 C>A
NM_007294.3
c.5152+1G>T
splicing
splice site
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32972852 C>T
NM_000059.3
c.10202C>T
p.T3401M
missense
exon
VUS
0.00006668
NFE
0.0002
1/4852
–
BRCA2
chr13:32929255 G>GAC
NM_000059.3
c.7265_7266insAC
p.C2422_V2423delinsX
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41245630 G>A
NM_007294.3
c.1918C>T
p.Q640X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32912899 CAT>C
NM_000059.3
c.4408_4409del
p.I1470fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41251880 ACT>A
NM_007294.3
c.457_458del
p.S153fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41209148 T>A
NM_007294.3
c.5198A>T
p.D1733V
missense
exon
VUS
0.00006667
NFE
0.0002
1/4852
–
BRCA1
chr17:41256249 C>A
NM_007294.3
c.331G>T
p.E111X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41243788 TAGAC>T
NM_007294.3
c.3756_3759del
p.L1252fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
MLH1
chr3:37061923 G>A
NM_000249.3
c.1007G>A
p.G336D
missense
exon
VUS
–
0.0002
1/4852
–
BRCA2
chr13:32954022 C>CA
NM_000059.3
c.9090dupA
p.T3030fs
frameshift ins
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41276061 A>G
NM_007294.3
c.53T>C
p.M18T
missense
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41245845 G>A
NM_007294.3
c.1703C>T
p.P568L
missense
exon
VUS
–
0.0002
1/4852
–
MLH1
chr3:37089175 G>C
NM_000249.3
c.1896+1G>C
splicing
splice site
Likely pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32893347 GAAACCATCTTATAATC>G
NM_000059.3
c.202_217del
p.K68fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
MSH6
chr2:48026090 C>G
NM_000179.2
c.968C>G
p.T323S
missense
exon
VUS
–
0.0002
1/4852
–
MSH6
chr2:48026603 C>T
NM_000179.2
c.1481C>T
p.A494V
missense
exon
VUS
–
0.0002
1/4852
–
TP53
chr17:7578407 G>A
NM_000546.5
c.523C>T
p.R175C
missense
exon
Pathogenic
0
NFE
0.0002
1/4852
–
MLH1
chr3:37090048 A>G
NM_000249.3
c.1937A>G
p.Y646C
missense
exon
Likely pathogenic
0.0001
AFR
0.0002
1/4852
–
MSH6
chr2:48023196 G>T
NM_000179.2
c.621G>T
p.E207D
missense
exon
VUS
–
0.0002
1/4852
–
BRCA1
chr17:41258472 C>T
NM_007294.3
c.212+1G>A
splicing
splice site
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32915112 CAA>C
NM_000059.3
c.6621_6622del
p.T2207fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
EPCAM
chr2:47601034 A>T
NM_002354.2
c.272A>T
p.N91I
missense
exon
VUS
–
0.0002
1/4852
–
BRCA2
chr13:32936761 GT>G
NM_000059.3
c.7908delT
p.C2636fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32905122 G>A
NM_000059.3
c.748G>A
p.V250M
missense
exon
VUS
–
0.0002
1/4852
–
BRCA1
chr17:41244341 TTGAA>T
NM_007294.3
c.3203_3206del
p.I1068fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41243571 T>TGCCTCATTTGTTTGGAAGAACCAATCAA
NM_007294.3
c.3976_3977insTTGATTGGTTCTTCCAAACAAATGAGGC
p.H1326fs
frameshift ins
exon
Pathogenic
–
0.0002
1/4852
–
PALB2
chr16:23652445 C>G
NM_024675.3
c.34G>C
p.E12Q
missense
exon
VUS
–
0.0002
1/4852
–
CHEK2
chr22:29121058 C>T
NM_007194.3
c.499G>A
p.G167R
missense
exon
Likely pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32911605 AT>A
NM_000059.3
c.3114delT
p.Y1038fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32914574 GAA>G
NM_000059.3
c.6083_6084del
p.E2028fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32953534 GT>G
NM_000059.3
c.8836delT
p.L2946fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
MSH6
chr2:48027413 C>A
NM_000179.2
c.2291C>A
p.T764N
missense
exon
VUS
0.0001
AFR
0.0002
1/4852
–
MSH6
chr2:48026357 A>C
NM_000179.2
c.1235A>C
p.K412T
missense
exon
VUS
–
0.0002
1/4852
–
MSH6
chr2:48027675 CAAG>C
NM_000179.2
c.2554_2556del
p.852_852del
in-frame del
exon
VUS
–
0.0002
1/4852
–
BRCA2
chr13:32890556 CAG>C
NM_000059.3
r.spl
splicing
splice site
Pathogenic
–
0.0002
1/4852
–
MSH2
chr2:47639682 C>T
NM_000251.2
c.775C>T
p.P259S
missense
exon
VUS
–
0.0002
1/4852
–
BRCA2
chr13:32900279 A>AT
NM_000059.3
c.468dupT
p.D156fs
frameshift ins
exon
Pathogenic
0.0000666
NFE
0.0002
1/4852
–
BRCA2
chr13:32968950 G>A
NM_000059.3
c.9381G>A
p.W3127X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32968835 CT>C
NM_000059.3
c.9267delT
p.P3089fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
RAD51C
chr17:56801398 CAG>C
NM_058216.2
r.spl
splicing
splice site
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32906625 A>ATG
NM_000059.3
c.1010_1011insTG
p.N337fs
frameshift ins
exon
Pathogenic
–
0.0002
1/4852
–
STK11
chr19:1223151 C>A
NM_000455.4
c.1088C>A
p.T363N
missense
exon
VUS
–
0.0002
1/4852
–
BRCA1
chr17:41246073 ATC>A
NM_007294.3
c.1473_1474del
p.Q491fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41243808 ACGGTGCTATGC>A
NM_007294.3
c.3729_3739del
p.R1243fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41243821 T>TC
NM_007294.3
c.3726_3727insG
p.R1243fs
frameshift ins
exon
Pathogenic
–
0.0002
1/4852
–
RAD51D
chr17:33434399 T>TA
NM_002878.3
c.330dupT
p.S111_G112delinsX
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41226347 C>T
NM_007294.3
c.4675+1G>A
splicing
splice site
Pathogenic
–
0.0002
1/4852
–
Нет совпадений