Genes | Position | Variant ID | Sequence variation | Frequency (1000 genomes) | Localization | ClinVar |
---|---|---|---|---|---|---|
ATM | 108137775 | rs642496 | c.2467−123T > A | 0.681909 | Intronic | – |
108225661 | rs664143 | c.640+30986T>C | 0.628195 | Intronic | – | |
10815,707 | rs3218681 | c.3403−15_3403−14insA | 0.542133 | Intronic | Benign | |
BARD1 | 215632255 | rs2070094 | c.1462G>A | 0.366214 | Exonic | Likely benign |
215645464 | rs2229571 | c.1077G>C | 0.459265 | Exonic | Likely benign | |
215674224 | rs1048108 | c.70C>T | 0.33127 | Exonic | Likely benign | |
215632155 | rs5031009 | c.1568+51A>G | 0.366214 | Intronic | – | |
215632126 | rs398048293 | c.1511+78_1511+79delAA | 0.366214 | Intronic | – | |
215634055 | rs6704780 | c.1315−19G>A | 0.365216 | Intronic | Benign | |
21532192 | rs5031011 | c.1568+14C>T | 0.352236 | Intronic | Likely benign | |
215595645 | rs16852600 | c.1904−413G>A | 0.275359 | Intronic | – | |
BLM | No detected variants | |||||
BRCA1 | No detected variants | |||||
BRCA2 | 32953529 | rs4987047 | c.8830A>T | 0.00898562 | Exonic | Benign |
BRIP1 | No detected variants | |||||
CDH1 | 68857277 | rs201760019 | c.1754−25C>A | 0.000599042 | Intronic | – |
68857544 | rs34939176 | c.1981+17_1981+18insA | 0.0459265 | Intronic | Benign | |
68868148 | rs140240766 | c.*746C>A | 0.000599042 | UTR3 | Likely benign | |
CHEK2 | 29137944 | rs2236142 | c.−194C>G | 0.560304 | Upstream | – |
FAM175A | No detected variants | |||||
FANCC | 9,873957 | rs4647534 | c.1155−38T>C | 0.541334 | Intronic | Benign |
97873435 | rs2404457 | c.1329+310C>T | 0.411142 | UTR3 | – | |
97888730 | rs4647512 | c.896+81G>A | 0.0313498 | Intronic | – | |
FANCM | No detected variants | |||||
MAPKAP1 | 128321827 | rs146481224 | c.848+85T>A | 0.0163738 | Intronic | – |
42103822 | rs1197672 | c.328−333C>T | 0.239816 | Intronic | – | |
42105918 | rs1201689 | c.937C>G | 0.305112 | Exonic | – | |
42111933 | rs890497 | c.2499+85G>A | 0.0884585 | Intronic | – | |
MLH1 | 37070437 | rs41562513 | c.1558+14G>A | 0.0501198 | Intronic | Benign |
MRE11A | 94179125 | rs1014666 | c.1784−69A>G | 0.517173 | Intronic | – |
94212048 | rs535801 | c.403−6G>A | 0.313099 | Splicing | Benign | |
94197568 | rs640627 | c.1099−163G>A | 0.314896 | Intronic | – | |
94225807 | rs496797 | c.20+141G>A | 0.552915 | Splicing | – | |
94225920 | rs497763 | c.20+28G>A | 0.457268 | Intronic | Benign | |
94212154 | rs680695 | c.403−112T>C | 0.313099 | Intronic | – | |
MSH2 | 47656801 | rs2347794 | c.1077−80G>A | 0.59365 | Intronic | Benign |
47630550 | rs2303426 | c.211+9C>A | 0.628395 | Intronic | Benign | |
47693959 | rs3732183 | c.1661+12G>A | 0.483427 | Intronic | Benign | |
47693706 | rs3732182 | c.1511−91G>T | 0.483027 | Intronic | Benign | |
47739551 | rs2303424 | c.2744A>G | 0.527955 | Intergenic | – | |
NBN | 90983317 | rs104895036 | c.456+84G>C | 0.00139776 | Intronic | – |
NF1 | 29685905 | rs34513299 | c.8051−82A>G | 0.00199681 | Intronic | – |
PALB2 | 23640467 | rs249954 | c.2586+58C>T | 0.35004 | Intronic | Benign |
23652525 | rs8053188 | c.−339C>T | 0.0662939 | UTR5 | Benign | |
PMS2 | 6037058 | rs549498051 | c.706−5delT | 0.453075 | Splicing | Benign |
PTEN | No detected variants | |||||
RAD50 | 131927748 | rs10520116 | c.1793+22T>C | 0.0129792 | Intronic | – |
131944964 | rs2066742 | c.2923−11_2923−10insT | 0.0734824 | Intronic | Likely benign | |
131928652 | rs2706366 | c.1793+926A>G | 0.123003 | Intronic | – | |
131892979 | rs4526098 | c.−38A>G | 0.92492 | UTR5 | Benign | |
RAD51B | 68290372 | rs17783124 | c.84+28T>G | 0.250399 | Intronic | – |
68290464 | rs28623567 | c.84+120G>A | 0.2498 | Intronic | – | |
68937054 | rs142879847 | c.1036+2087A>G | 0.00798722 | Intronic | – | |
68758575 | rs10129646 | c.757−26T>C | 0.138379 | Intronic | – | |
68301767 | rs34564590 | c.199−29_199−28insA | 0.319489 | Intronic | – | |
68290426 | rs28604984 | c.84+82T>C | 0.2498 | Intronic | – | |
68934860 | rs34436700 | c.958−29A>G | 0.00778754 | Intronic | Likely benign | |
69117512 | rs8023214 | c.1037−32142T>C | 0.528554 | Intergenic | – | |
69117387 | rs8021657 | c.1037−32267A>G | 0.527556 | Intergenic | – | |
RAD51C | 56798207 | rs28363318 | c.904+34T>C | 0.205272 | Intronic | – |
56769979 | rs12946397 | c.−681G>A | 0.158347 | UTR5 | Likely benign | |
RAD51D | No detected variants | |||||
RECQL | 21629993 | rs397718052 | c.868−68_868−67insG | 0.488818 | Intronic | – |
21628320 | rs10841831 | c.1216+82G>A | 0.486821 | Intronic | – | |
21628791 | rs3752648 | c.950−33A>G | 0.48742 | Intronic | – | |
21628336 | rs10841832 | c.1216+66C>T | 0.486821 | Intronic | – | |
RINT1 | No detected variants | |||||
STK11 | No detected variants | |||||
TP53 | No detected variants | |||||
XRCC2 | No detected variants |