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Statistics

Key figures

Total amount of samples sequenced?Total amount of samples sequenced under the project “Study on Hereditary Syndromes in the Russian Federation” 2067
Total amount of samples in the database 1581
Total number of phenotypes registered 17
Total number of pathogenic mutations registered 429
Total amount of variants 150620

Phenotypes

Breast Cancer 726
Ovarian Cancer 499
Colorectal Cancer 171
Neuroendocrine Cancer 90
Endometrial Cancer 52
Prostate Cancer 52
Pancreas Cancer 30
Melanoma 20
Сollision Carcinoma 11
Thyroid Cancer 3

Mutations classification

brca15945248
brca28110153152
tp53413
pten11
atm725
mlh1221984
msh2132362
msh626141353
epcam844
pms213148
rad51b22
rad51c33
rad51d22
brip1211
palb21717216
chek211245
stk11211
cdh1312
Summary:20515520130

Most frequent mutations BRCA1/2

Genomic coordinatesTranscriptKnown asSlavs664Tatars541Bashkirs29Chuvashs31All1581
chr17:41209079 T>TG c.5266dupCBRCA1:NM_007294.3p.Q1756fs 5382insC0.072480.063340.130.03210.05180
chr17:41258504 A>C c.181T>GBRCA1:NM_007294.3p.C61G 300T>G Cys61Gly0.00640.017900000.00711
chr17:41215382 G>A c.5161C>TBRCA1:NM_007294.3p.Q1721X 000.01160.0692000.00579
chr17:41245586 CT>C c.1961delABRCA1:NM_007294.3p.K654fs 2080delA0.01170000000.00579
chr17:41209095 G>A c.5251C>TBRCA1:NM_007294.3p.R1751X 0.01170000000.00447
chr17:41226348 C>T c.4675G>ABRCA1:NM_007294.3p.E1559K 0.00640.0018100000.00447
chr13:32906576 C>CAA c.961_962insAABRCA2:NM_000059.3p.Q321fs 0.001510.009250.0341000.00386
chr17:41243512 CT>C c.4035delABRCA1:NM_007294.3p.E1345fs 4153delA0.004530.00181000.03210.00386
chr13:32912240 G>GA c.3749dupABRCA2:NM_000059.3p.E1250fs 000.0092500000.00325
chr13:32950929 G>A c.8754+1G>ABRCA2:NM_000059.3 0.00320.00181000.03210.00254
chr17:41276044 ACT>A c.68_69delBRCA1:NM_007294.3p.E23fs 185delAG0.00640000000.00254
chr17:41243843 GTTTAC>G c.3700_3704delBRCA1:NM_007294.3p.V1234fs 3819delGTAAA0.001510.0055300000.00254
chr17:41223242 G>C c.4689C>GBRCA1:NM_007294.3p.Y1563X 0.004530000000.00193
chr13:32911388 ACT>A c.2897_2898delBRCA2:NM_000059.3p.T966fs 000.0037200000.00193
chr13:32954050 G>A c.9117G>ABRCA2:NM_000059.3p.P3039P 0.001510.0037200000.00193
chr17:41243917 ACT>A c.3629_3630delBRCA1:NM_007294.3p.E1210fs 000000000.00132
chr17:41234451 G>A c.4327C>TBRCA1:NM_007294.3p.R1443X 0.00320000000.00132
chr13:32906915 AAAAG>A c.1301_1304delBRCA2:NM_000059.3p.K434fs 0.00320000000.00132
chr17:41244404 AC>A c.3143delGBRCA1:NM_007294.3p.G1048fs 0.001510.0018100000.00132
chr17:41215969 C>T c.5075-1G>ABRCA1:NM_007294.3 0.00320000000.00132
chr13:32921034 G>A c.7007+1G>ABRCA2:NM_000059.3 000.0037200000.00132
chr13:32911297 TAAAC>T c.2806_2809delBRCA2:NM_000059.3p.K936fs 0.003200000.03210.00132
chr17:41243788 TAGAC>T c.3756_3759delBRCA1:NM_007294.3p.L1252fs 3875delGTCT0.001510000000.000631
crh13:32914438 GT>G 6174delT
BRCA2
0000000000