ClinVar Miner

List of variants reported as not provided for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2754
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HGVS dbSNP
NG_007110.2:g.114289A>G rs2303424
NM_000038.5(APC):c.-30108G>C rs587778028
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.6(APC):c.2123A>G (p.Lys708Arg) rs587778030
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.3007G>A (p.Asp1003Asn) rs564314108
NM_000038.6(APC):c.3052G>A (p.Asp1018Asn) rs587778038
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.6(APC):c.3197G>A (p.Arg1066Lys) rs587778039
NM_000038.6(APC):c.3325G>T (p.Gly1109Cys) rs587778040
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.6(APC):c.3632T>G (p.Met1211Arg) rs575268622
NM_000038.6(APC):c.3644G>A (p.Ser1215Asn) rs587778041
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr) rs138933660
NM_000038.6(APC):c.385G>C (p.Glu129Gln) rs376628500
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln) rs529480958
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998
NM_000038.6(APC):c.5108G>C (p.Gly1703Ala) rs587778042
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del) rs587778029
NM_000038.6(APC):c.5743A>G (p.Lys1915Glu) rs587778031
NM_000038.6(APC):c.5968A>T (p.Thr1990Ser) rs587778032
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.6(APC):c.6754C>G (p.Pro2252Ala) rs587778035
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg) rs544549596
NM_000038.6(APC):c.6958C>T (p.Pro2320Ser) rs587778036
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995
NM_000038.6(APC):c.7543A>G (p.Ile2515Val) rs554356011
NM_000038.6(APC):c.7589G>A (p.Arg2530Gln) rs587778043
NM_000038.6(APC):c.7621A>G (p.Ile2541Val) rs587778033
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile) rs587778037
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.6(APC):c.8146G>C (p.Val2716Leu) rs587778044
NM_000038.6(APC):c.8182G>A (p.Val2728Met) rs587778045
NM_000038.6(APC):c.8273A>G (p.Glu2758Gly) rs371616945
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser) rs587778046
NM_000038.6(APC):c.8467A>C (p.Thr2823Pro) rs587778034
NM_000043.6(FAS):c.365C>T (p.Thr122Ile) rs3218614
NM_000043.6(FAS):c.432C>A (p.Asp144Glu) rs574338716
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128
NM_000043.6(FAS):c.756T>G (p.Asn252Lys) rs587778348
NM_000051.3(ATM):c.1021G>A (p.Val341Ile) rs200601781
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2336T>C (p.Met779Thr) rs587778066
NM_000051.3(ATM):c.2353C>T (p.Arg785Cys) rs587778065
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.3(ATM):c.2449G>C (p.Asp817His) rs587778067
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2574dup (p.Asn859Ter) rs587778068
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.275A>C (p.Lys92Thr) rs200151849
NM_000051.3(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.3(ATM):c.3044A>G (p.Gln1015Arg) rs587778070
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3139A>G (p.Lys1047Glu) rs587778071
NM_000051.3(ATM):c.3161C>G (p.Pro1054Arg) rs1800057
NM_000051.3(ATM):c.3296A>G (p.Asp1099Gly) rs587778072
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3630G>A (p.Met1210Ile) rs587778073
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.3952G>T (p.Val1318Phe) rs587778074
NM_000051.3(ATM):c.3963G>A (p.Met1321Ile) rs35184530
NM_000051.3(ATM):c.400G>A (p.Gly134Ser) rs2234998
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.3(ATM):c.4658A>C (p.Glu1553Ala) rs587778075
NM_000051.3(ATM):c.4779A>G (p.Glu1593=) rs587778076
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.544G>C (p.Val182Leu) rs3218707
NM_000051.3(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5653dup (p.Thr1885fs) rs587778077
NM_000051.3(ATM):c.5693G>A (p.Arg1898Gln) rs370680798
NM_000051.3(ATM):c.5945A>T (p.Gln1982Leu) rs543980602
NM_000051.3(ATM):c.5948= (p.Ser1983=) rs659243
NM_000051.3(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.6178C>T (p.Arg2060Cys) rs587778078
NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) rs1800060
NM_000051.3(ATM):c.6437G>C (p.Ser2146Thr) rs56815840
NM_000051.3(ATM):c.649A>G (p.Ile217Val) rs547045780
NM_000051.3(ATM):c.659C>T (p.Ala220Val) rs145355104
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) rs4988111
NM_000051.3(ATM):c.7757A>G (p.Asn2586Ser) rs587778079
NM_000051.3(ATM):c.7919C>T (p.Thr2640Ile) rs4988125
NM_000051.3(ATM):c.7988T>C (p.Val2663Ala) rs377648506
NM_000051.3(ATM):c.8071C>T (p.Arg2691Cys) rs531980488
NM_000051.3(ATM):c.8495G>A (p.Arg2832His) rs529296539
NM_000051.3(ATM):c.8545C>T (p.Arg2849Ter) rs587778080
NM_000051.3(ATM):c.8734A>G (p.Arg2912Gly) rs376676328
NM_000051.3(ATM):c.8978G>A (p.Arg2993Gln) rs587778081
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000057.4(BLM):c.1712T>C (p.Met571Thr) rs587778109
NM_000057.4(BLM):c.1722_1724delinsTAA (p.Leu574_Ala575delinsPheLys) rs587778107
NM_000057.4(BLM):c.1741A>G (p.Thr581Ala) rs587778108
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe) rs374569385
NM_000057.4(BLM):c.1913A>C (p.Asn638Thr) rs587778110
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr) rs587778102
NM_000057.4(BLM):c.3278C>T (p.Ser1093Leu) rs367543017
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys) rs28385142
NM_000057.4(BLM):c.376C>G (p.Pro126Ala) rs587778106
NM_000057.4(BLM):c.387_389del (p.Lys130del) rs587778105
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216
NM_000057.4(BLM):c.4069G>C (p.Ala1357Pro) rs587778103
NM_000057.4(BLM):c.4102T>C (p.Ser1368Pro) rs587778104
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) rs200756519
NM_000057.4(BLM):c.842A>C (p.His281Pro) rs202042636
NM_000057.4(BLM):c.847A>G (p.Thr283Ala) rs149598003
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061
NM_000057.4(BLM):c.98C>T (p.Ser33Leu) rs139282091
NM_000059.3(BRCA2):c.10121C>T (p.Thr3374Ile) rs56309455
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.3(BRCA2):c.1742C>T (p.Ser581Phe) rs587778118
NM_000059.3(BRCA2):c.175C>G (p.Pro59Ala) rs56091799
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.3(BRCA2):c.193C>T (p.Pro65Ser) rs587778128
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.2471T>C (p.Leu824Ser) rs397507631
NM_000059.3(BRCA2):c.2515T>C (p.Tyr839His) rs587778125
NM_000059.3(BRCA2):c.257T>C (p.Leu86Pro) rs572782576
NM_000059.3(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943
NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.3(BRCA2):c.2849T>A (p.Val950Asp) rs80358535
NM_000059.3(BRCA2):c.2892A>T (p.Lys964Asn) rs587778119
NM_000059.3(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3358G>C (p.Glu1120Gln) rs587778124
NM_000059.3(BRCA2):c.340C>T (p.His114Tyr) rs587778129
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3485C>T (p.Ala1162Val) rs587778122
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.3(BRCA2):c.4681C>A (p.His1561Asn) rs2219594
NM_000059.3(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703
NM_000059.3(BRCA2):c.5210A>T (p.Asp1737Val) rs587778120
NM_000059.3(BRCA2):c.5230A>G (p.Ser1744Gly) rs587778121
NM_000059.3(BRCA2):c.5411T>C (p.Val1804Ala) rs370252983
NM_000059.3(BRCA2):c.5495C>G (p.Ser1832Cys) rs138489917
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6101G>A (p.Arg2034His) rs80358849
NM_000059.3(BRCA2):c.6112C>T (p.His2038Tyr) rs587778123
NM_000059.3(BRCA2):c.6215C>G (p.Ser2072Cys) rs80358862
NM_000059.3(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
NM_000059.3(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.6413T>A (p.Val2138Asp) rs80358877
NM_000059.3(BRCA2):c.6875A>G (p.Glu2292Gly) rs397507378
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935
NM_000059.3(BRCA2):c.714_716dup (p.Ser239_Leu240insArg) rs80359640
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7160C>T (p.Ala2387Val) rs587778126
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7397= (p.Ala2466=) rs169547
NM_000059.3(BRCA2):c.742G>A (p.Ala248Thr) rs55854959
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8487+1G>A rs81002798
NM_000059.3(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.3(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.3(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.3(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu) rs276174926
NM_000059.3(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9853C>A (p.Pro3285Thr) rs587778127
NM_000059.3(BRCA2):c.9925G>A (p.Glu3309Lys) rs80359251
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000075.4(CDK4):c.254G>A (p.Arg85Gln) rs587778184
NM_000075.4(CDK4):c.364C>T (p.Arg122Cys) rs587778185
NM_000075.4(CDK4):c.523G>A (p.Val175Ile) rs587778186
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn) rs587778187
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys) rs587778188
NM_000077.4(CDKN2A):c.149A>T (p.Gln50Leu) rs587778189
NM_000077.4(CDKN2A):c.150+20C>T rs550846229
NM_000077.4(CDKN2A):c.150+37G>C rs45456595
NM_000077.4(CDKN2A):c.16G>A (p.Gly6Arg) rs587778190
NM_000077.4(CDKN2A):c.174A>C (p.Arg58=) rs201208890
NM_000077.4(CDKN2A):c.273G>A (p.Leu91=) rs4987127
NM_000077.4(CDKN2A):c.297G>T (p.Arg99=) rs587778191
NM_000077.4(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464
NM_000077.4(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891
NM_000077.4(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249
NM_000077.4(CDKN2A):c.458-491C>T rs181044510
NM_000077.4(CDKN2A):c.458-492G>C rs527814073
NM_000107.2(DDB2):c.1228G>A (p.Ala410Thr) rs143049891
NM_000107.2(DDB2):c.128-66C>T rs186870004
NM_000107.2(DDB2):c.128-84T>G rs56310830
NM_000107.2(DDB2):c.319G>A (p.Ala107Thr) rs11537594
NM_000122.1(ERCC3):c.1333A>T (p.Thr445Ser) rs587778280
NM_000122.1(ERCC3):c.1421dup (p.Asp474fs) rs587778281
NM_000122.1(ERCC3):c.172G>A (p.Ala58Thr) rs587778277
NM_000122.1(ERCC3):c.1960G>A (p.Glu654Lys) rs568193912
NM_000122.1(ERCC3):c.1996G>A (p.Asp666Asn) rs587778275
NM_000122.1(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521
NM_000122.1(ERCC3):c.2182G>A (p.Val728Met) rs143140054
NM_000122.1(ERCC3):c.2207G>T (p.Arg736Ile) rs587778276
NM_000122.1(ERCC3):c.2303C>T (p.Ala768Val) rs372094432
NM_000122.1(ERCC3):c.307A>G (p.Ile103Val) rs587778278
NM_000122.1(ERCC3):c.350A>G (p.Lys117Arg) rs1805161
NM_000122.1(ERCC3):c.682G>C (p.Gly228Arg) rs587778279
NM_000122.1(ERCC3):c.847C>T (p.Arg283Cys) rs145201970
NM_000123.3(ERCC5):c.-1C>G rs587777944
NM_000123.3(ERCC5):c.-1C>T rs587777944
NM_000123.3(ERCC5):c.1127C>T (p.Ala376Val) rs56398372
NM_000123.3(ERCC5):c.1259G>A (p.Arg420His) rs143667470
NM_000123.3(ERCC5):c.1340C>T (p.Ala447Val) rs577826260
NM_000123.3(ERCC5):c.1556G>A (p.Gly519Glu) rs587778297
NM_000123.3(ERCC5):c.1571C>T (p.Pro524Leu) rs201684551
NM_000123.3(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869
NM_000123.3(ERCC5):c.1711C>T (p.Pro571Ser) rs141763734
NM_000123.3(ERCC5):c.1738C>T (p.Pro580Ser) rs587778296
NM_000123.3(ERCC5):c.1789G>C (p.Val597Leu) rs4150319
NM_000123.3(ERCC5):c.1802A>G (p.Glu601Gly) rs60682853
NM_000123.3(ERCC5):c.1880C>A (p.Ala627Glu) rs2227870
NM_000123.3(ERCC5):c.2071G>A (p.Gly691Arg) rs145295467
NM_000123.3(ERCC5):c.212G>A (p.Arg71His) rs587778293
NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319
NM_000123.3(ERCC5):c.2458C>T (p.His820Tyr) rs587778289
NM_000123.3(ERCC5):c.2542C>T (p.Arg848Trp) rs587778290
NM_000123.3(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342
NM_000123.3(ERCC5):c.2877A>C (p.Arg959Ser) rs41281674
NM_000123.3(ERCC5):c.2890C>T (p.Arg964Trp) rs574826021
NM_000123.3(ERCC5):c.2995T>G (p.Leu999Val) rs368550097
NM_000123.3(ERCC5):c.3026G>A (p.Arg1009His) rs4150387
NM_000123.3(ERCC5):c.3038A>G (p.Gln1013Arg) rs587778292
NM_000123.3(ERCC5):c.3106G>A (p.Ala1036Thr) rs144208043
NM_000123.3(ERCC5):c.3157= (p.Arg1053=) rs9514066
NM_000123.3(ERCC5):c.3238= (p.Arg1080=) rs9514067
NM_000123.3(ERCC5):c.3239G>A (p.Arg1080Gln) rs587778291
NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) rs17655
NM_000123.3(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871
NM_000123.3(ERCC5):c.3427G>A (p.Ala1143Thr) rs55798001
NM_000123.3(ERCC5):c.3449A>G (p.Asp1150Gly) rs149597229
NM_000123.3(ERCC5):c.362C>T (p.Thr121Ile) rs587778294
NM_000123.3(ERCC5):c.433G>A (p.Val145Ile) rs4987063
NM_000123.3(ERCC5):c.56C>T (p.Pro19Leu) rs34291397
NM_000123.3(ERCC5):c.592C>A (p.Pro198Thr) rs141369732
NM_000123.3(ERCC5):c.640C>T (p.Arg214Cys) rs56255799
NM_000123.3(ERCC5):c.641G>A (p.Arg214His) rs146833751
NM_000123.3(ERCC5):c.760A>G (p.Met254Val) rs1047769
NM_000123.3(ERCC5):c.767A>G (p.Gln256Arg) rs4150313
NM_000123.3(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000123.3(ERCC5):c.848C>T (p.Ser283Phe) rs587778295
NM_000123.3(ERCC5):c.876A>G (p.Ile292Met) rs193097418
NM_000127.2(EXT1):c.1135G>A (p.Val379Ile) rs371233961
NM_000127.2(EXT1):c.122G>A (p.Ser41Asn) rs199862937
NM_000127.2(EXT1):c.1360G>A (p.Val454Ile) rs201504622
NM_000127.2(EXT1):c.1430C>G (p.Pro477Arg) rs145720047
NM_000127.2(EXT1):c.1457C>T (p.Ala486Val) rs188859975
NM_000127.2(EXT1):c.382G>T (p.Ala128Ser) rs587778298
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val) rs587778310
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282
NM_000135.4(FANCA):c.1861del (p.Tyr621fs) rs587778311
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) rs367880372
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly) rs587778313
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403
NM_000135.4(FANCA):c.2568G>C (p.Leu856Phe) rs587778314
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys) rs587778316
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala) rs587778317
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys) rs140823801
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln) rs138013482
NM_000135.4(FANCA):c.370A>T (p.Ile124Phe) rs553656166
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer) rs587778319
NM_000135.4(FANCA):c.3857A>C (p.His1286Pro) rs138620653
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.3934+55T>A rs7195906
NM_000135.4(FANCA):c.3934+59G>T rs11647746
NM_000135.4(FANCA):c.3934+74C>G rs56216970
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681
NM_000135.4(FANCA):c.3983C>T (p.Thr1328Ile) rs587778320
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln) rs370507983
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr) rs587778322
NM_000135.4(FANCA):c.480G>A (p.Met160Ile) rs200603300
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) rs587778323
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697
NM_000135.4(FANCA):c.679C>G (p.His227Asp) rs142580507
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.4(FANCA):c.761_763GAA[1] (p.Arg255del) rs555210441
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823
NM_000135.4(FANCA):c.80-13C>T rs189841793
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000136.2(FANCC):c.1329+181_1329+183delCCT rs587778328
NM_000136.3(FANCC):c.1063G>C (p.Asp355His) rs587778325
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.1329+149G>A rs551334290
NM_000136.3(FANCC):c.1329+175C>T rs112446681
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698
NM_000136.3(FANCC):c.1585A>C (p.Thr529Pro) rs587778326
NM_000136.3(FANCC):c.166-2A>G rs587777945
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr) rs567465885
NM_000136.3(FANCC):c.383A>G (p.Asp128Gly) rs555753798
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.626G>T (p.Arg209Leu) rs587778327
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000138.4(FBN1):c.1415= (p.Tyr472=) rs113936729
NM_000138.4(FBN1):c.5066-14dupT rs3833018
NM_000141.4(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_000141.4(FGFR2):c.17G>C (p.Arg6Pro) rs3750819
NM_000141.4(FGFR2):c.2301+1526A>G rs189179463
NM_000141.4(FGFR2):c.2329G>A (p.Glu777Lys) rs374993905
NM_000141.4(FGFR2):c.23T>G (p.Ile8Ser) rs147307031
NM_000141.4(FGFR2):c.34G>A (p.Val12Met) rs143978938
NM_000141.4(FGFR2):c.557T>C (p.Met186Thr) rs755793
NM_000141.4(FGFR2):c.748+18C>T rs377269009
NM_000141.4(FGFR2):c.939+11T>C rs145303463
NM_000141.4(FGFR2):c.942C>T (p.Ala314=) rs201717227
NM_000142.4(FGFR3):c.1031C>T (p.Ser344Phe) rs199702395
NM_000142.4(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.4(FGFR3):c.1262G>A (p.Arg421Gln) rs587778355
NM_000142.4(FGFR3):c.130G>A (p.Gly44Ser) rs146080119
NM_000142.4(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000142.4(FGFR3):c.1349C>T (p.Thr450Met) rs56240927
NM_000142.4(FGFR3):c.1486A>G (p.Lys496Glu) rs587778359
NM_000142.4(FGFR3):c.1559C>T (p.Ser520Leu) rs587778356
NM_000142.4(FGFR3):c.169G>A (p.Val57Met) rs61735064
NM_000142.4(FGFR3):c.1765C>G (p.Leu589Val) rs587778357
NM_000142.4(FGFR3):c.184C>G (p.Pro62Ala) rs533866031
NM_000142.4(FGFR3):c.193G>A (p.Gly65Arg) rs2305178
NM_000142.4(FGFR3):c.2149G>A (p.Ala717Thr) rs17882190
NM_000142.4(FGFR3):c.2152A>G (p.Asn718Asp) rs587778358
NM_000142.4(FGFR3):c.299C>G (p.Ser100Cys) rs587778352
NM_000142.4(FGFR3):c.599G>T (p.Arg200Leu) rs587778353
NM_000142.4(FGFR3):c.62C>A (p.Ser21Tyr) rs587778351
NM_000142.4(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000142.4(FGFR3):c.768G>T (p.Gln256His) rs587778354
NM_000143.3(FH):c.1013T>C (p.Ile338Thr) rs201975537
NM_000143.3(FH):c.1138A>G (p.Met380Val) rs587778362
NM_000143.3(FH):c.1303G>A (p.Val435Met) rs147528200
NM_000143.3(FH):c.37C>G (p.Pro13Ala) rs587778360
NM_000143.3(FH):c.53C>T (p.Pro18Leu) rs201887750
NM_000143.3(FH):c.71C>G (p.Ser24Trp) rs587778361
NM_000143.3(FH):c.77C>T (p.Pro26Leu) rs187226800
NM_000143.3(FH):c.883G>A (p.Ala295Thr) rs145843819
NM_000169.2(GLA):c.-8C>G rs371291716
NM_000179.2(MSH6):c.1063G>A (p.Gly355Ser) rs587778531
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1730G>A (p.Arg577His) rs376220212
NM_000179.2(MSH6):c.1864A>C (p.Ile622Leu) rs587778529
NM_000179.2(MSH6):c.1867C>G (p.Pro623Ala) rs3136334
NM_000179.2(MSH6):c.1995G>C (p.Glu665Asp) rs587778532
NM_000179.2(MSH6):c.2362A>G (p.Ile788Val) rs587778530
NM_000179.2(MSH6):c.2561A>T (p.Lys854Met) rs34374438
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.3233T>C (p.Val1078Ala) rs376452612
NM_000179.2(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849
NM_000179.2(MSH6):c.3260C>A (p.Pro1087His) rs63750753
NM_000179.2(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329
NM_000179.2(MSH6):c.3312dup (p.Gly1105fs) rs267608092
NM_000179.2(MSH6):c.3488A>T (p.Glu1163Val) rs63750252
NM_000179.2(MSH6):c.3758T>C (p.Val1253Ala) rs202066386
NM_000179.2(MSH6):c.3788G>A (p.Arg1263His) rs147852216
NM_000179.2(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.476C>T (p.Ala159Val) rs587778528
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000215.3(JAK3):c.1142C>A (p.Thr381Asn) rs373046546
NM_000215.3(JAK3):c.1187C>T (p.Pro396Leu) rs149047410
NM_000215.3(JAK3):c.1352G>A (p.Arg451Gln) rs145751599
NM_000215.3(JAK3):c.1441+262C>A rs587777948
NM_000215.3(JAK3):c.1561C>G (p.Leu521Val) rs55666418
NM_000215.3(JAK3):c.1610G>A (p.Arg537Gln) rs587778413
NM_000215.3(JAK3):c.1739C>T (p.Ser580Leu) rs587778414
NM_000215.3(JAK3):c.1830G>A (p.Met610Ile) rs587778415
NM_000215.3(JAK3):c.1843C>T (p.Arg615Cys) rs200075643
NM_000215.3(JAK3):c.2062A>T (p.Ile688Phe) rs35785705
NM_000215.3(JAK3):c.2152G>C (p.Val718Leu) rs146837396
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.2323C>T (p.Arg775Cys) rs200624610
NM_000215.3(JAK3):c.23C>T (p.Thr8Met) rs145500023
NM_000215.3(JAK3):c.2731C>G (p.Arg911Gly) rs587778417
NM_000215.3(JAK3):c.3207+73G>A rs536358097
NM_000215.3(JAK3):c.3268G>A (p.Ala1090Thr) rs144968714
NM_000215.3(JAK3):c.381T>C (p.Ala127=) rs587778418
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000215.3(JAK3):c.452C>G (p.Pro151Arg) rs55778349
NM_000215.3(JAK3):c.58T>A (p.Ser20Thr) rs199773433
NM_000215.3(JAK3):c.843G>C (p.Trp281Cys) rs587778419
NM_000215.3(JAK3):c.851G>A (p.Gly284Glu) rs587778420
NM_000215.3(JAK3):c.94G>A (p.Ala32Thr) rs587778416
NM_000215.3(JAK3):c.991G>A (p.Glu331Lys) rs201387977
NM_000222.2(KIT):c.101C>A (p.Pro34Gln) rs55755457
NM_000222.2(KIT):c.1195G>A (p.Val399Ile) rs143707288
NM_000222.2(KIT):c.1241A>G (p.Glu414Gly) rs587778435
NM_000222.2(KIT):c.1263_1265dup (p.Val422dup) rs587778434
NM_000222.2(KIT):c.1588G>A (p.Val530Ile) rs72550822
NM_000222.2(KIT):c.1621A>C (p.Met541Leu) rs3822214
NM_000222.2(KIT):c.1711A>G (p.Ile571Val) rs587778431
NM_000222.2(KIT):c.2358_2359delinsTT (p.Lys786_Asn787delinsAsnTyr) rs587778432
NM_000222.2(KIT):c.2361T>C (p.Asn787=) rs140912933
NM_000222.2(KIT):c.2554G>A (p.Val852Ile) rs555650901
NM_000222.2(KIT):c.2866C>T (p.Arg956Trp) rs587778433
NM_000222.2(KIT):c.503C>T (p.Ala168Val) rs149092990
NM_000244.3(MEN1):c.-23-135G>A rs587777949
NM_000244.3(MEN1):c.1480C>T (p.Pro494Ser) rs587778440
NM_000244.3(MEN1):c.1636= (p.Ala546=) rs2959656
NM_000244.3(MEN1):c.527G>A (p.Arg176Gln) rs607969
NM_000249.3(MLH1):c.*32C>T rs200903126
NM_000249.3(MLH1):c.*32_*34CTT[1] rs193922366
NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000249.3(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.3(MLH1):c.1709A>G (p.Asn570Ser) rs375853155
NM_000249.3(MLH1):c.1730C>T (p.Ser577Leu) rs56185292
NM_000249.3(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.1976G>A (p.Arg659Gln) rs63749900
NM_000249.3(MLH1):c.2146G>A (p.Val716Met) rs35831931
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.303T>G (p.Gly101=) rs4647220
NM_000249.3(MLH1):c.52C>T (p.Arg18Cys) rs367654552
NM_000249.3(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.3(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.3(MLH1):c.721A>G (p.Lys241Glu) rs587778447
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.1168C>T (p.Leu390Phe) rs17224367
NM_000251.2(MSH2):c.1255C>A (p.Gln419Lys) rs63750006
NM_000251.2(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.2(MSH2):c.1601G>A (p.Arg534His) rs587778523
NM_000251.2(MSH2):c.1631T>C (p.Ile544Thr) rs587778524
NM_000251.2(MSH2):c.1662C>T (p.Ser554=) rs587778525
NM_000251.2(MSH2):c.1798G>T (p.Ala600Ser) rs587778526
NM_000251.2(MSH2):c.1886A>G (p.Gln629Arg) rs61756468
NM_000251.2(MSH2):c.208G>A (p.Ala70Thr) rs587778522
NM_000251.2(MSH2):c.220A>C (p.Asn74His) rs150548839
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.2425G>A (p.Glu809Lys) rs202145681
NM_000251.2(MSH2):c.2545C>G (p.Leu849Val) rs587778527
NM_000251.2(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.2(MSH2):c.5C>T (p.Ala2Val) rs587778521
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000258.2(MYL3):c.*9C>T rs202234617
NM_000267.3(NF1):c.1549G>A (p.Glu517Lys) rs587778548
NM_000267.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267
NM_000267.3(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_000267.3(NF1):c.1955G>A (p.Arg652His) rs587778549
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_000267.3(NF1):c.2572T>C (p.Ser858Pro) rs587778550
NM_000267.3(NF1):c.3415G>A (p.Ala1139Thr) rs587778551
NM_000267.3(NF1):c.456A>G (p.Ala152=) rs377481833
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.584A>G (p.Lys195Arg) rs587778552
NM_000267.3(NF1):c.6109A>G (p.Ile2037Val) rs201712827
NM_000267.3(NF1):c.7468G>C (p.Val2490Leu) rs2230850
NM_000267.3(NF1):c.7774C>G (p.Pro2592Ala) rs138839077
NM_000267.3(NF1):c.8452G>A (p.Val2818Met) rs368149035
NM_000268.3(NF2):c.1007G>A (p.Arg336Gln) rs587778554
NM_000268.3(NF2):c.107A>G (p.Asn36Ser) rs372279458
NM_000268.3(NF2):c.1163C>T (p.Ala388Val) rs587778553
NM_000268.3(NF2):c.1451T>C (p.Met484Thr) rs141538143
NM_000268.3(NF2):c.1737+2098A>G rs75296199
NM_000268.3(NF2):c.1749G>A (p.Gln583=) rs201911915
NM_000268.3(NF2):c.1753G>A (p.Ala585Thr) rs145446060
NM_000314.7(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000321.2(RB1):c.1573G>A (p.Ala525Thr) rs587778640
NM_000321.2(RB1):c.1574C>G (p.Ala525Gly) rs4151539
NM_000321.2(RB1):c.1677A>T (p.Glu559Asp) rs587778639
NM_000321.2(RB1):c.173C>T (p.Thr58Ile) rs138574644
NM_000321.2(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.2(RB1):c.1862G>A (p.Arg621His) rs373601944
NM_000321.2(RB1):c.1898C>T (p.Thr633Ile) rs587778641
NM_000321.2(RB1):c.2260G>C (p.Val754Leu) rs587778642
NM_000321.2(RB1):c.2318C>T (p.Ser773Phe) rs267603841
NM_000321.2(RB1):c.43G>C (p.Ala15Pro) rs587778638
NM_000321.2(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000321.2(RB1):c.59C>T (p.Pro20Leu) rs587778637
NM_000321.2(RB1):c.920C>T (p.Thr307Ile) rs183898408
NM_000337.5(SGCD):c.-148_-122del rs727504478
NM_000337.5(SGCD):c.-352T>C rs727503419
NM_000337.5(SGCD):c.-378G>T rs531296131
NM_000337.5(SGCD):c.-404G>A rs192662989
NM_000337.5(SGCD):c.-41A>T rs369889635
NM_000337.5(SGCD):c.-44+11G>A rs184722381
NM_000337.5(SGCD):c.-44G>T rs727503420
NM_000337.5(SGCD):c.-59G>A rs375477247
NM_000337.5(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000368.4(TSC1):c.-80-2A>G rs587778003
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1029+34C>G rs587778002
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1263+88A>G rs118203507
NM_000368.4(TSC1):c.1282_1283delinsCT (p.Ala428Leu) rs587778721
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1369A>C (p.Ser457Arg) rs587778722
NM_000368.4(TSC1):c.1526G>A (p.Arg509Gln) rs118203543
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2221A>C (p.Lys741Gln) rs587778723
NM_000368.4(TSC1):c.250G>A (p.Ala84Thr) rs118203357
NM_000368.4(TSC1):c.2665_2666delinsAT (p.Glu889Ile) rs587778724
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3140C>T (p.Thr1047Ile) rs587778726
NM_000368.4(TSC1):c.3168_3171delinsGGTG (p.Gly1057Val) rs587778725
NM_000368.4(TSC1):c.3169G>A (p.Gly1057Ser) rs587778727
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.853T>G (p.Phe285Val) rs377076733
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000369.2(TSHR):c.1033G>A (p.Asp345Asn) rs376188008
NM_000369.2(TSHR):c.106G>C (p.Asp36His) rs61747482
NM_000369.2(TSHR):c.1270G>A (p.Val424Ile) rs587778742
NM_000369.2(TSHR):c.145A>G (p.Ser49Gly) rs147137913
NM_000369.2(TSHR):c.154C>A (p.Pro52Thr) rs2234919
NM_000369.2(TSHR):c.1600C>T (p.Arg534Cys) rs150602845
NM_000369.2(TSHR):c.1721C>G (p.Thr574Ser) rs61742289
NM_000369.2(TSHR):c.1928A>G (p.Tyr643Cys) rs587778741
NM_000369.2(TSHR):c.2161G>T (p.Val721Phe) rs61745409
NM_000369.2(TSHR):c.2181G>C (p.Glu727Asp) rs1991517
NM_000369.2(TSHR):c.2232C>G (p.Asn744Lys) rs61743974
NM_000369.2(TSHR):c.697G>A (p.Val233Met) rs144127341
NM_000369.2(TSHR):c.928C>T (p.Arg310Cys) rs121908882
NM_000369.2(TSHR):c.929G>A (p.Arg310His) rs139286618
NM_000377.2(WAS):c.1378C>T (p.Pro460Ser) rs143885622
NM_000377.2(WAS):c.194C>G (p.Thr65Ser) rs797044478
NM_000377.2(WAS):c.391G>A (p.Glu131Lys) rs146220228
NM_000377.2(WAS):c.39_40delinsCC (p.Gly14Arg) rs797044476
NM_000377.2(WAS):c.413G>A (p.Arg138Gln) rs139265251
NM_000377.2(WAS):c.538C>A (p.His180Asn) rs145040665
NM_000377.2(WAS):c.58C>G (p.Gln20Glu) rs797044477
NM_000377.2(WAS):c.995T>C (p.Val332Ala) rs2737799
NM_000380.3(XPA):c.497T>C (p.Val166Ala) rs143374902
NM_000380.3(XPA):c.568T>G (p.Ser190Ala) rs555812588
NM_000380.3(XPA):c.571C>G (p.Leu191Val) rs562768588
NM_000380.3(XPA):c.683G>A (p.Arg228Gln) rs1805160
NM_000380.3(XPA):c.754C>G (p.Leu252Val) rs3176750
NM_000380.3(XPA):c.766A>G (p.Met256Val) rs57519506
NM_000380.3(XPA):c.772C>T (p.Arg258Cys) rs188860873
NM_000400.3(ERCC2):c.1119-102G>T rs171140
NM_000400.3(ERCC2):c.1119-116C>G rs73559309
NM_000400.3(ERCC2):c.1119-146T>G rs111562095
NM_000400.3(ERCC2):c.1119-173T>A rs183340713
NM_000400.3(ERCC2):c.1119-194C>T rs139596759
NM_000400.3(ERCC2):c.1119-19C>T rs3916824
NM_000400.3(ERCC2):c.1119-30dup rs56170134
NM_000400.3(ERCC2):c.1119-57dup rs587777942
NM_000400.3(ERCC2):c.1119-5G>A rs369538318
NM_000400.3(ERCC2):c.1119-80C>T rs3895625
NM_000400.3(ERCC2):c.1119-89G>A rs577987254
NM_000400.3(ERCC2):c.1195C>T (p.Leu399Phe) rs551211003
NM_000400.3(ERCC2):c.1276C>G (p.Pro426Ala) rs577723968
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.1489C>T (p.Arg497Cys) rs199738290
NM_000400.3(ERCC2):c.1628A>C (p.Gln543Pro) rs587778270
NM_000400.3(ERCC2):c.164T>C (p.Leu55Pro) rs587778274
NM_000400.3(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.3(ERCC2):c.1775G>A (p.Arg592His) rs147224585
NM_000400.3(ERCC2):c.1802G>A (p.Arg601Gln) rs140522180
NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000400.3(ERCC2):c.1904C>T (p.Ala635Val) rs34517175
NM_000400.3(ERCC2):c.2069G>A (p.Arg690Gln) rs537616689
NM_000400.3(ERCC2):c.2083C>T (p.Arg695Cys) rs201392911
NM_000400.3(ERCC2):c.2128G>A (p.Val710Met) rs141808167
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_000400.3(ERCC2):c.2231T>C (p.Leu744Pro) rs201370106
NM_000400.3(ERCC2):c.2251A>C (p.Lys751Gln) rs13181
NM_000400.3(ERCC2):c.2263C>T (p.Gln755Ter) rs587778272
NM_000400.3(ERCC2):c.284A>G (p.Glu95Gly) rs571718677
NM_000400.3(ERCC2):c.294G>C (p.Glu98Asp) rs145947678
NM_000400.3(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150
NM_000400.3(ERCC2):c.514G>A (p.Ala172Thr) rs559154781
NM_000400.3(ERCC2):c.545C>T (p.Ala182Val) rs142936491
NM_000400.3(ERCC2):c.679C>T (p.Arg227Cys) rs137910235
NM_000400.3(ERCC2):c.81_82delinsTT (p.Glu27_Leu28delinsAspPhe) rs587778273
NM_000400.3(ERCC2):c.934G>A (p.Asp312Asn) rs1799793
NM_000400.3(ERCC2):c.974C>T (p.Thr325Met) rs530045760
NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu) rs141035971
NM_000401.3(EXT2):c.1209G>T (p.Met403Ile) rs34084767
NM_000401.3(EXT2):c.1222A>G (p.Ser408Gly) rs369029338
NM_000401.3(EXT2):c.1272+14131G>A rs587778300
NM_000401.3(EXT2):c.1277G>A (p.Arg426Gln) rs138187791
NM_000401.3(EXT2):c.1811A>G (p.His604Arg) rs150392363
NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) rs138495222
NM_000401.3(EXT2):c.2015C>T (p.Thr672Met) rs138722406
NM_000401.3(EXT2):c.2152G>A (p.Gly718Arg) rs367897723
NM_000401.3(EXT2):c.223A>G (p.Met75Val) rs4755779
NM_000401.3(EXT2):c.331C>G (p.Pro111Ala) rs587778299
NM_000401.3(EXT2):c.359T>G (p.Met120Arg) rs140075817
NM_000401.3(EXT2):c.522C>G (p.Asp174Glu) rs199916419
NM_000401.3(EXT2):c.619A>C (p.Met207Leu) rs111589746
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) rs139525250
NM_000401.3(EXT2):c.839C>A (p.Pro280Gln) rs372237191
NM_000401.3(EXT2):c.995G>A (p.Arg332His) rs76901081
NM_000455.4(STK11):c.1062C>G (p.Phe354Leu) rs59912467
NM_000455.4(STK11):c.1072G>A (p.Asp358Asn) rs587778696
NM_000455.4(STK11):c.1088C>T (p.Thr363Ile) rs587778695
NM_000455.4(STK11):c.619G>A (p.Asp207Asn) rs587778694
NM_000489.5(ATRX):c.1169G>A (p.Arg390His) rs367986587
NM_000489.5(ATRX):c.1423C>G (p.His475Asp) rs146863015
NM_000489.5(ATRX):c.1633C>G (p.Gln545Glu) rs35738915
NM_000489.5(ATRX):c.1825C>G (p.Pro609Ala) rs186742436
NM_000489.5(ATRX):c.189G>A (p.Glu63=) rs587778082
NM_000489.5(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.5(ATRX):c.2513A>G (p.Lys838Arg) rs587778085
NM_000489.5(ATRX):c.2540T>C (p.Phe847Ser) rs45624939
NM_000489.5(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.5(ATRX):c.2648A>G (p.Gln883Arg) rs587778086
NM_000489.5(ATRX):c.2650G>A (p.Glu884Lys) rs200343648
NM_000489.5(ATRX):c.2680A>C (p.Thr894Pro) rs145807475
NM_000489.5(ATRX):c.2701A>G (p.Ile901Val) rs587778087
NM_000489.5(ATRX):c.2761G>T (p.Val921Phe) rs587778088
NM_000489.5(ATRX):c.2785= (p.Glu929=) rs3088074
NM_000489.5(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.5(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582
NM_000489.5(ATRX):c.4365_4367GGA[6] (p.Glu1464dup) rs398123423
NM_000489.5(ATRX):c.5167delAinsGAAGGC (p.Ile1723Glufs) rs587778083
NM_000489.5(ATRX):c.5576A>G (p.Asn1859Ser) rs587778084
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1680-871_1680-870delinsGA rs727504811
NM_000492.3(CFTR):c.1680-981T>C rs727502937
NM_000534.4(PMS1):c.1001C>T (p.Thr334Met) rs147084726
NM_000534.4(PMS1):c.1181T>C (p.Met394Thr) rs1145231
NM_000534.4(PMS1):c.1436G>C (p.Gly479Ala) rs587778612
NM_000534.4(PMS1):c.1501G>A (p.Gly501Arg) rs1145232
NM_000534.4(PMS1):c.1609G>A (p.Glu537Lys) rs151325573
NM_000534.4(PMS1):c.1643A>G (p.Lys548Arg) rs61736576
NM_000534.4(PMS1):c.1744G>A (p.Val582Ile) rs74512161
NM_000534.4(PMS1):c.174_175delinsTA (p.Glu59Lys) rs587778608
NM_000534.4(PMS1):c.1888C>T (p.Arg630Ter) rs139932286
NM_000534.4(PMS1):c.1895A>G (p.Asn632Ser) rs2066456
NM_000534.4(PMS1):c.2058T>G (p.Ile686Met) rs587778614
NM_000534.4(PMS1):c.2219C>T (p.Ser740Phe) rs587778613
NM_000534.4(PMS1):c.2377T>C (p.Tyr793His) rs1145234
NM_000534.4(PMS1):c.2377T>G (p.Tyr793Asp) rs1145234
NM_000534.4(PMS1):c.2417C>G (p.Thr806Ser) rs55859858
NM_000534.4(PMS1):c.2470C>A (p.Pro824Thr) rs587778611
NM_000534.4(PMS1):c.287C>G (p.Ala96Gly) rs139414606
NM_000534.4(PMS1):c.329C>G (p.Thr110Arg) rs372752293
NM_000534.4(PMS1):c.418+78G>A rs550407834
NM_000534.4(PMS1):c.492dup (p.Cys165fs) rs587778609
NM_000534.4(PMS1):c.575A>G (p.His192Arg) rs587778610
NM_000534.4(PMS1):c.605G>A (p.Arg202Lys) rs2066459
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu) rs587778616
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000535.7(PMS2):c.1267G>A (p.Ala423Thr) rs587778619
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser) rs587778615
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu) rs2228006
NM_000535.7(PMS2):c.166C>G (p.Leu56Val) rs371011390
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) rs587778620
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.653G>A (p.Gly218Asp) rs368043334
NM_000535.7(PMS2):c.817A>G (p.Ile273Val) rs587778621
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000545.6(HNF1A):c.1165T>G (p.Leu389Val) rs115080759
NM_000545.6(HNF1A):c.1309+184dup rs201039488
NM_000545.6(HNF1A):c.1309+187T>A rs184963118
NM_000545.6(HNF1A):c.1309+238G>A rs564888406
NM_000545.6(HNF1A):c.1309+247G>A rs587777934
NM_000545.6(HNF1A):c.1309+52C>T rs56031130
NM_000545.6(HNF1A):c.1309+86TCAT[5] rs58371019
NM_000545.6(HNF1A):c.1309+86TCAT[6] rs58371019
NM_000545.6(HNF1A):c.1309+86TCAT[7] rs58371019
NM_000545.6(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196
NM_000545.6(HNF1A):c.1501+7G>A rs2464195
NM_000545.6(HNF1A):c.155_156delinsCT (p.Gly52Ala) rs587778393
NM_000545.6(HNF1A):c.1623+23C>T rs201167179
NM_000545.6(HNF1A):c.1623+29T>C rs1169304
NM_000545.6(HNF1A):c.1624-29G>A rs532689884
NM_000545.6(HNF1A):c.1624-30C>T rs563879035
NM_000545.6(HNF1A):c.1720= (p.Gly574=) rs1169305
NM_000545.6(HNF1A):c.1720_1733delGGCATCCAGCACCTinsGGCATCCAGCACC (p.Leu578Argfs) rs587778399
NM_000545.6(HNF1A):c.1729C>G (p.His577Asp) rs587778398
NM_000545.6(HNF1A):c.1854C>G (p.Ile618Met) rs193922591
NM_000545.6(HNF1A):c.1896A>G (p.Ter632=) rs587778395
NM_000545.6(HNF1A):c.210C>T (p.Ser70=) rs146686581
NM_000545.6(HNF1A):c.225C>T (p.Asp75=) rs202180554
NM_000545.6(HNF1A):c.252C>T (p.Pro84=) rs78772552
NM_000545.6(HNF1A):c.293C>T (p.Ala98Val) rs1800574
NM_000545.6(HNF1A):c.341G>A (p.Arg114His) rs139016696
NM_000545.6(HNF1A):c.557T>C (p.Ile186Thr) rs587778396
NM_000545.6(HNF1A):c.716C>T (p.Ala239Val) rs587778397
NM_000545.6(HNF1A):c.73G>A (p.Ala25Thr) rs587778394
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) rs1169288
NM_000545.6(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072
NM_000546.5(TP53):c.1096T>G (p.Ser366Ala) rs17881470
NM_000546.5(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_000546.5(TP53):c.173C>G (p.Pro58Arg) rs144386518
NM_000546.5(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000546.5(TP53):c.329G>A (p.Arg110His) rs11540654
NM_000546.5(TP53):c.572C>G (p.Pro191Arg) rs587778718
NM_000546.5(TP53):c.605G>A (p.Arg202His) rs587778719
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.672+31A>G rs34949160
NM_000546.5(TP53):c.672+35G>T rs587778001
NM_000546.5(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.-30+1G>T rs587778004
NM_000548.5(TSC2):c.1066G>C (p.Val356Leu) rs587778728
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.5(TSC2):c.1600G>T (p.Val534Leu) rs587778729
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val) rs397515296
NM_000548.5(TSC2):c.1912G>A (p.Val638Met) rs587778730
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223
NM_000548.5(TSC2):c.2348C>T (p.Thr783Ile) rs562945619
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.2761C>G (p.Leu921Val) rs201835391
NM_000548.5(TSC2):c.2768C>G (p.Ser923Cys) rs587778731
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284
NM_000548.5(TSC2):c.336+103del rs587778006
NM_000548.5(TSC2):c.336+10A>G rs587778005
NM_000548.5(TSC2):c.336+197C>G rs587778007
NM_000548.5(TSC2):c.336+229C>T rs587778008
NM_000548.5(TSC2):c.336+233T>C rs144712953
NM_000548.5(TSC2):c.336+32C>T rs45517103
NM_000548.5(TSC2):c.336+377T>C rs79357051
NM_000548.5(TSC2):c.336+385C>G rs587778009
NM_000548.5(TSC2):c.3413G>A (p.Arg1138Gln) rs143168379
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295
NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met) rs373481458
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.3884-150G>A rs587778010
NM_000548.5(TSC2):c.3884-47G>T rs375126574
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.3913_3916delinsTGGA (p.Pro1305_Gly1306delinsTrpSer) rs587778735
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val) rs587778736
NM_000548.5(TSC2):c.3963G>C (p.Glu1321Asp) rs587778737
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln) rs587778738
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.4335G>T (p.Leu1445Phe) rs587778739
NM_000548.5(TSC2):c.4465G>A (p.Ala1489Thr) rs587778740
NM_000548.5(TSC2):c.4901G>A (p.Arg1634His) rs201694466
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu) rs45490993
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.5(TSC2):c.595G>C (p.Val199Leu) rs587778733
NM_000548.5(TSC2):c.846C>A (p.Asp282Glu) rs587778734
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748
NM_000551.3(VHL):c.119C>T (p.Pro40Leu) rs200343185
NM_000551.3(VHL):c.3G>A (p.Met1Ile) rs578091032
NM_000551.3(VHL):c.558A>C (p.Glu186Asp) rs587778744
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000553.4(WRN):c.1240C>G (p.Leu414Val) rs587778755
NM_000553.4(WRN):c.1530A>T (p.Glu510Asp) rs149565907
NM_000553.4(WRN):c.1708G>C (p.Val570Leu) rs587778746
NM_000553.4(WRN):c.1835C>G (p.Ser612Cys) rs11574250
NM_000553.4(WRN):c.2165A>G (p.Asn722Ser) rs186693124
NM_000553.4(WRN):c.2937T>G (p.Ile979Met) rs147802438
NM_000553.4(WRN):c.2950T>A (p.Leu984Ile) rs146443310
NM_000553.4(WRN):c.2978G>A (p.Arg993His) rs370713742
NM_000553.4(WRN):c.2986G>A (p.Asp996Asn) rs138379977
NM_000553.4(WRN):c.3097C>T (p.Arg1033Trp) rs143954702
NM_000553.4(WRN):c.3222G>T (p.Leu1074Phe) rs1801195
NM_000553.4(WRN):c.3236C>T (p.Ser1079Leu) rs3087414
NM_000553.4(WRN):c.3251C>T (p.Ser1084Leu) rs587778748
NM_000553.4(WRN):c.3422C>T (p.Ser1141Leu) rs139323683
NM_000553.4(WRN):c.3731C>T (p.Thr1244Met) rs370299361
NM_000553.4(WRN):c.3785C>G (p.Thr1262Arg) rs78488552
NM_000553.4(WRN):c.4099T>C (p.Cys1367Arg) rs1346044
NM_000553.4(WRN):c.4127C>T (p.Pro1376Leu) rs146055899
NM_000553.4(WRN):c.4165A>G (p.Lys1389Glu) rs587778751
NM_000553.4(WRN):c.587G>A (p.Arg196His) rs561603992
NM_000553.4(WRN):c.667A>G (p.Ile223Val) rs587778754
NM_000553.4(WRN):c.968C>T (p.Ser323Leu) rs369277330
NM_000553.5(WRN):c.107G>A (p.Arg36Gln) rs34084741
NM_000553.5(WRN):c.1149G>T (p.Leu383Phe) rs4987238
NM_000553.5(WRN):c.1161G>A (p.Met387Ile) rs1800391
NM_000553.5(WRN):c.1413A>C (p.Leu471Phe) rs587778745
NM_000553.5(WRN):c.145T>A (p.Phe49Ile) rs587778749
NM_000553.5(WRN):c.1762G>A (p.Val588Ile) rs587778747
NM_000553.5(WRN):c.1882C>G (p.Leu628Val) rs77969734
NM_000553.5(WRN):c.1909C>T (p.Arg637Trp) rs148286708
NM_000553.5(WRN):c.2500C>T (p.Arg834Cys) rs3087425
NM_000553.5(WRN):c.2983G>A (p.Ala995Thr) rs140768346
NM_000553.5(WRN):c.340G>A (p.Val114Ile) rs2230009
NM_000553.5(WRN):c.3506A>G (p.Asn1169Ser) rs587778750
NM_000553.5(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369
NM_000553.5(WRN):c.4015G>A (p.Val1339Ile) rs11574395
NM_000553.5(WRN):c.4051G>A (p.Ala1351Thr) rs587778752
NM_000553.5(WRN):c.4191G>A (p.Glu1397=) rs369276959
NM_000553.5(WRN):c.4216C>T (p.Arg1406Ter) rs11574410
NM_000553.5(WRN):c.443T>A (p.Leu148Gln) rs587778753
NM_000553.5(WRN):c.514A>C (p.Thr172Pro) rs367991517
NM_000553.5(WRN):c.720T>G (p.Asn240Lys) rs148229804
NM_000553.5(WRN):c.95A>G (p.Lys32Arg) rs34477820
NM_000553.5(WRN):c.970A>G (p.Thr324Ala) rs1800390
NM_000601.6(HGF):c.865+410dup rs534250947
NM_001002295.2(GATA3):c.1186G>A (p.Ala396Thr) rs200935603
NM_001002295.2(GATA3):c.448C>A (p.Leu150Ile) rs587778379
NM_001002295.2(GATA3):c.737G>C (p.Gly246Ala) rs548018172
NM_001005360.2(DNM2):c.164A>G (p.Asp55Gly) rs587778234
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) rs144250390
NM_001005360.2(DNM2):c.1912G>A (p.Ala638Thr) rs587778236
NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu) rs3745674
NM_001005360.2(DNM2):c.868C>T (p.Arg290Trp) rs587778235
NM_001013415.2(FBXW7):c.134T>G (p.Phe45Cys) rs576143888
NM_001018005.2(TPM1):c.851+6C>T rs375043184
NM_001018036.2(TSHR):c.742C>A (p.Arg248Ser) rs3783941
NM_001018115.2(FANCD2):c.4301T>G (p.Val1434Gly) rs587778334
NM_001035.3(RYR2):c.14152-16dup rs727503406
NM_001035.3(RYR2):c.3067-16_3067-15del rs727504453
NM_001039933.3(CD79B):c.182C>T (p.Thr61Met) rs144755516
NM_001039933.3(CD79B):c.221A>C (p.Asn74Thr) rs200126941
NM_001039933.3(CD79B):c.500C>T (p.Thr167Met) rs147194821
NM_001077488.4(GNAS):c.217G>A (p.Gly73Ser) rs587778380
NM_001077488.4(GNAS):c.262G>A (p.Glu88Lys) rs587778381
NM_001077488.4(GNAS):c.435C>T (p.Pro145=) rs11554266
NM_001077706.2(ECT2L):c.1051G>A (p.Glu351Lys) rs73557274
NM_001077706.2(ECT2L):c.1070-1G>C rs587777937
NM_001077706.2(ECT2L):c.1135A>T (p.Ser379Cys) rs139396585
NM_001077706.2(ECT2L):c.1145C>A (p.Ala382Asp) rs149517821
NM_001077706.2(ECT2L):c.12C>A (p.Phe4Leu) rs79219465
NM_001077706.2(ECT2L):c.1318T>G (p.Trp440Gly) rs79294486
NM_001077706.2(ECT2L):c.145G>A (p.Ala49Thr) rs146769748
NM_001077706.2(ECT2L):c.1510A>G (p.Ile504Val) rs201270230
NM_001077706.2(ECT2L):c.1532C>T (p.Ala511Val) rs202079003
NM_001077706.2(ECT2L):c.1579-1G>C rs79069095
NM_001077706.2(ECT2L):c.1579G>A (p.Glu527Lys) rs1529151
NM_001077706.2(ECT2L):c.1672A>C (p.Ile558Leu) rs375958674
NM_001077706.2(ECT2L):c.1672_1674dup (p.Ile558dup) rs587778239
NM_001077706.2(ECT2L):c.1709T>C (p.Val570Ala) rs138935097
NM_001077706.2(ECT2L):c.1739A>G (p.Lys580Arg) rs587778240
NM_001077706.2(ECT2L):c.1780G>A (p.Ala594Thr) rs11968285
NM_001077706.2(ECT2L):c.1802C>T (p.Ser601Leu) rs587778241
NM_001077706.2(ECT2L):c.2028+1_2028+9del rs554645676
NM_001077706.2(ECT2L):c.2180C>T (p.Thr727Ile) rs199701983
NM_001077706.2(ECT2L):c.2191C>T (p.His731Tyr) rs144150484
NM_001077706.2(ECT2L):c.2227C>T (p.Gln743Ter) rs199963616
NM_001077706.2(ECT2L):c.2479C>T (p.Arg827Trp) rs539507764
NM_001077706.2(ECT2L):c.2555G>A (p.Arg852Gln) rs371621945
NM_001077706.2(ECT2L):c.2615G>A (p.Gly872Asp) rs374898524
NM_001077706.2(ECT2L):c.272C>T (p.Ser91Phe) rs116211453
NM_001077706.2(ECT2L):c.437T>C (p.Ile146Thr) rs76700722
NM_001077706.2(ECT2L):c.452A>G (p.His151Arg) rs587778243
NM_001077706.2(ECT2L):c.614G>A (p.Arg205Gln) rs587778245
NM_001077706.2(ECT2L):c.649G>A (p.Val217Met) rs75478555
NM_001077706.2(ECT2L):c.713A>C (p.Glu238Ala) rs587778244
NM_001077706.2(ECT2L):c.839A>G (p.Asp280Gly) rs142505459
NM_001077706.2(ECT2L):c.910A>G (p.Met304Val) rs75962473
NM_001077706.2(ECT2L):c.958_959inv (p.Val320Thr) rs386706344
NM_001079846.1(CREBBP):c.1285G>A (p.Ala429Thr) rs202225861
NM_001079846.1(CREBBP):c.1332G>T (p.Gln444His) rs587778216
NM_001079846.1(CREBBP):c.1400C>T (p.Pro467Leu) rs369550568
NM_001079846.1(CREBBP):c.1537C>A (p.Leu513Ile) rs61753381
NM_001079846.1(CREBBP):c.1936G>A (p.Ala646Thr) rs587778217
NM_001079846.1(CREBBP):c.1954G>T (p.Ala652Ser) rs531539047
NM_001079846.1(CREBBP):c.2425C>A (p.Pro809Thr) rs139050013
NM_001079846.1(CREBBP):c.2458C>T (p.Pro820Ser) rs145733598
NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) rs142047649
NM_001079846.1(CREBBP):c.2614A>T (p.Thr872Ser) rs143247685
NM_001079846.1(CREBBP):c.271G>A (p.Ala91Thr) rs200673670
NM_001079846.1(CREBBP):c.2827G>A (p.Ala943Thr) rs61753380
NM_001079846.1(CREBBP):c.2860G>A (p.Val954Ile) rs61731383
NM_001079846.1(CREBBP):c.2915C>T (p.Pro972Leu) rs139896431
NM_001079846.1(CREBBP):c.293G>T (p.Gly98Val) rs141982003
NM_001079846.1(CREBBP):c.3014C>T (p.Ser1005Leu) rs61731376
NM_001079846.1(CREBBP):c.3085A>G (p.Ser1029Gly) rs587778210
NM_001079846.1(CREBBP):c.346A>G (p.Ser116Gly) rs587778211
NM_001079846.1(CREBBP):c.3497A>T (p.Tyr1166Phe) rs200346970
NM_001079846.1(CREBBP):c.383C>G (p.Ser128Cys) rs55790011
NM_001079846.1(CREBBP):c.5656G>A (p.Val1886Met) rs368145743
NM_001079846.1(CREBBP):c.5819A>G (p.Asn1940Ser) rs112906840
NM_001079846.1(CREBBP):c.5853del (p.Thr1952fs) rs587778213
NM_001079846.1(CREBBP):c.6410A>G (p.Asn2137Ser) rs587778214
NM_001079846.1(CREBBP):c.6544G>A (p.Gly2182Ser) rs141184151
NM_001079846.1(CREBBP):c.6571G>A (p.Gly2191Ser) rs139688311
NM_001079846.1(CREBBP):c.6842A>T (p.His2281Leu) rs587778215
NM_001079846.1(CREBBP):c.760G>A (p.Ala254Thr) rs148781922
NM_001079846.1(CREBBP):c.895A>G (p.Ser299Gly) rs149961222
NM_001079846.1(CREBBP):c.964G>C (p.Val322Leu) rs587778212
NM_001080476.2(GRXCR1):c.*13C>G rs368464416
NM_001083602.2(PTCH1):c.1049C>G (p.Thr350Ser) rs201174718
NM_001083602.2(PTCH1):c.1108G>A (p.Asp370Asn) rs142274954
NM_001083602.2(PTCH1):c.14C>T (p.Thr5Ile) rs529720410
NM_001083602.2(PTCH1):c.1975C>T (p.Pro659Ser) rs149258400
NM_001083602.2(PTCH1):c.1985C>T (p.Thr662Met) rs115556836
NM_001083602.2(PTCH1):c.2024C>T (p.Ala675Val) rs2227971
NM_001083602.2(PTCH1):c.2281A>G (p.Ser761Gly) rs199476092
NM_001083602.2(PTCH1):c.2360A>G (p.Gln787Arg) rs587778628
NM_001083602.2(PTCH1):c.2957C>T (p.Thr986Met) rs138911275
NM_001083602.2(PTCH1):c.3043G>A (p.Val1015Met) rs587778629
NM_001083602.2(PTCH1):c.3178G>A (p.Val1060Ile) rs147025073
NM_001083602.2(PTCH1):c.322G>A (p.Ala108Thr) rs587778633
NM_001083602.2(PTCH1):c.3289G>A (p.Gly1097Ser) rs113663584
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001083602.2(PTCH1):c.3419G>A (p.Arg1140His) rs560967532
NM_001083602.2(PTCH1):c.3568G>A (p.Val1190Met) rs150850039
NM_001083602.2(PTCH1):c.3647C>T (p.Pro1216Leu) rs2227968
NM_001083602.2(PTCH1):c.3742C>T (p.Pro1248Ser) rs574856671
NM_001083602.2(PTCH1):c.3746C>T (p.Pro1249Leu) rs357564
NM_001083602.2(PTCH1):c.3964G>A (p.Gly1322Arg) rs587778631
NM_001083602.2(PTCH1):c.4-1624C>T rs138729094
NM_001083602.2(PTCH1):c.4-1659G>A rs587778627
NM_001083602.2(PTCH1):c.4021G>A (p.Gly1341Ser) rs56161606
NM_001083602.2(PTCH1):c.4076C>T (p.Ser1359Leu) rs587778630
NM_001083602.2(PTCH1):c.4105G>A (p.Val1369Met) rs587778632
NM_001083602.2(PTCH1):c.4126C>T (p.Arg1376Trp) rs143464326
NM_001083602.2(PTCH1):c.4127G>A (p.Arg1376Gln) rs56023271
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759
NM_001105206.3(LAMA4):c.*1C>T rs148811960
NM_001105206.3(LAMA4):c.848_849= (p.Asp283=) rs71543223
NM_001105206.3(LAMA4):c.849= (p.Asp283=) rs9387061
NM_001122606.1(LAMP2):c.1094-2682T>C rs376806600
NM_001123383.1(BCOR):c.1016C>T (p.Pro339Leu) rs587778095
NM_001123383.1(BCOR):c.11C>T (p.Ala4Val) rs587778092
NM_001123383.1(BCOR):c.1264A>G (p.Ser422Gly) rs202240562
NM_001123383.1(BCOR):c.1448C>T (p.Pro483Leu) rs587778096
NM_001123383.1(BCOR):c.1465C>T (p.Pro489Ser) rs587778097
NM_001123383.1(BCOR):c.2129G>A (p.Arg710His) rs200732803
NM_001123383.1(BCOR):c.2509C>G (p.Pro837Ala) rs587778098
NM_001123383.1(BCOR):c.2954A>T (p.Tyr985Phe) rs587778093
NM_001123383.1(BCOR):c.305G>C (p.Arg102Pro) rs587778099
NM_001123383.1(BCOR):c.3277G>A (p.Glu1093Lys) rs144736705
NM_001123383.1(BCOR):c.3440C>T (p.Thr1147Ile) rs587778101
NM_001123383.1(BCOR):c.365T>C (p.Met122Thr) rs369585835
NM_001123383.1(BCOR):c.3700A>G (p.Arg1234Gly) rs140897453
NM_001123383.1(BCOR):c.3872A>G (p.Lys1291Arg) rs187172641
NM_001123383.1(BCOR):c.3912A>C (p.Glu1304Asp) rs142866108
NM_001123383.1(BCOR):c.409G>A (p.Val137Ile) rs146403660
NM_001123383.1(BCOR):c.4664G>A (p.Arg1555His) rs367859441
NM_001123383.1(BCOR):c.5132A>C (p.His1711Pro) rs587778100
NM_001123383.1(BCOR):c.586A>C (p.Met196Leu) rs587778094
NM_001123383.1(BCOR):c.626C>T (p.Ser209Leu) rs143697110
NM_001126114.2(TP53):c.1021T>G (p.Cys341Gly) rs3021068
NM_001127208.2(TET2):c.4817G>C (p.Gly1606Ala) rs587778702
NM_001127208.2(TET2):c.5103G>A (p.Met1701Ile) rs62623390
NM_001127208.2(TET2):c.5152G>T (p.Val1718Leu) rs142312318
NM_001127208.2(TET2):c.5162T>G (p.Leu1721Trp) rs34402524
NM_001127208.2(TET2):c.5167C>T (p.Pro1723Ser) rs146348065
NM_001127208.2(TET2):c.5284A>G (p.Ile1762Val) rs2454206
NM_001127208.2(TET2):c.5284A>T (p.Ile1762Leu) rs2454206
NM_001127208.2(TET2):c.5305G>C (p.Ala1769Pro) rs539389221
NM_001127208.2(TET2):c.5333A>G (p.His1778Arg) rs62621450
NM_001127208.2(TET2):c.5449C>A (p.His1817Asn) rs141442603
NM_001127208.2(TET2):c.5453A>T (p.Lys1818Ile) rs587778700
NM_001127208.2(TET2):c.5885C>T (p.Pro1962Leu) rs200971953
NM_001127208.2(TET2):c.5914G>C (p.Ala1972Pro) rs587778703
NM_001127208.2(TET2):c.6004A>G (p.Ile2002Val) rs587778701
NM_001127500.3(MET):c.-14-3297G>C rs80048442
NM_001127500.3(MET):c.-14-3314A>T rs80153920
NM_001127500.3(MET):c.1039G>A (p.Ala347Thr) rs200074800
NM_001127500.3(MET):c.103A>T (p.Met35Leu) rs375353223
NM_001127500.3(MET):c.1085T>C (p.Met362Thr) rs77523018
NM_001127500.3(MET):c.110T>C (p.Val37Ala) rs201315884
NM_001127500.3(MET):c.1124A>G (p.Asn375Ser) rs33917957
NM_001127500.3(MET):c.1171G>A (p.Gly391Arg) rs587778443
NM_001127500.3(MET):c.1660G>A (p.Gly554Arg) rs200218511
NM_001127500.3(MET):c.1701+25A>G rs73469198
NM_001127500.3(MET):c.1701+58_1701+59insTG rs587777950
NM_001127500.3(MET):c.1701+75T>G rs553431706
NM_001127500.3(MET):c.1701+80dup rs587777951
NM_001127500.3(MET):c.1723C>A (p.Leu575Ile) rs587778445
NM_001127500.3(MET):c.1771C>T (p.Arg591Trp) rs45602940
NM_001127500.3(MET):c.1965+20A>G rs587777952
NM_001127500.3(MET):c.1972G>A (p.Val658Ile) rs587778446
NM_001127500.3(MET):c.2602A>G (p.Ile868Val) rs200524064
NM_001127500.3(MET):c.2716C>T (p.His906Tyr) rs115574135
NM_001127500.3(MET):c.289C>G (p.Pro97Ala) rs199736573
NM_001127500.3(MET):c.2962C>T (p.Arg988Cys) rs34589476
NM_001127500.3(MET):c.3029C>T (p.Thr1010Ile) rs56391007
NM_001127500.3(MET):c.3031A>G (p.Thr1011Ala) rs587778441
NM_001127500.3(MET):c.3576T>C (p.His1192=) rs146651797
NM_001127500.3(MET):c.4027G>A (p.Glu1343Lys) rs587778444
NM_001127500.3(MET):c.4141G>A (p.Ala1381Thr) rs45578433
NM_001127500.3(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_001127500.3(MET):c.510C>G (p.Ser170Arg) rs587778442
NM_001127500.3(MET):c.71G>A (p.Gly24Glu) rs180985111
NM_001127500.3(MET):c.948A>G (p.Ile316Met) rs35225896
NM_001127511.3(APC):c.78C>A (p.Ser26Arg) rs113782655
NM_001128425.1(MUTYH):c.1000C>A (p.Pro334Thr) rs587778537
NM_001128425.1(MUTYH):c.1014G>C (p.Gln338His) rs3219489
NM_001128425.1(MUTYH):c.1037C>T (p.Ser346Leu) rs587778538
NM_001128425.1(MUTYH):c.1141G>T (p.Gly381Trp) rs587778539
NM_001128425.1(MUTYH):c.1147del (p.Ala385fs) rs587778536
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1309C>T (p.Arg437Trp) rs587778540
NM_001128425.1(MUTYH):c.1434_1436GGA[1] (p.Glu480del) rs587778541
NM_001128425.1(MUTYH):c.1508G>A (p.Gly503Glu) rs3219494
NM_001128425.1(MUTYH):c.1544C>T (p.Ser515Phe) rs140118273
NM_001128425.1(MUTYH):c.1547C>T (p.Pro516Leu) rs587778542
NM_001128425.1(MUTYH):c.1585C>A (p.Leu529Met) rs3219496
NM_001128425.1(MUTYH):c.1601G>A (p.Arg534Gln) rs3219497
NM_001128425.1(MUTYH):c.536A>G (p.Tyr179Cys) rs34612342
NM_001128425.1(MUTYH):c.53C>T (p.Pro18Leu) rs79777494
NM_001128425.1(MUTYH):c.64G>A (p.Val22Met) rs3219484
NM_001128425.1(MUTYH):c.74G>A (p.Gly25Asp) rs75321043
NM_001128425.1(MUTYH):c.836A>C (p.Asn279Thr) rs587778534
NM_001128425.1(MUTYH):c.862A>G (p.Thr288Ala) rs587778535
NM_001128425.1(MUTYH):c.934-2A>G rs77542170
NM_001128425.1(MUTYH):c.985G>A (p.Val329Met) rs147718169
NM_001128849.2(SMARCA4):c.*1G>T rs76118382
NM_001128849.2(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268
NM_001128849.2(SMARCA4):c.1915C>G (p.Leu639Val) rs587778680
NM_001128849.2(SMARCA4):c.2617-110G>A rs564402674
NM_001128849.2(SMARCA4):c.2617-224T>C rs587777971
NM_001128849.2(SMARCA4):c.2617-86G>A rs75904516
NM_001128849.2(SMARCA4):c.3546+16G>A rs587777972
NM_001128849.2(SMARCA4):c.3841G>A (p.Val1281Ile) rs587778685
NM_001128849.2(SMARCA4):c.4211T>G (p.Val1404Gly) rs200469979
NM_001128849.2(SMARCA4):c.4216C>T (p.Arg1406Cys) rs587778686
NM_001128849.2(SMARCA4):c.4387C>T (p.Arg1463Cys) rs587778681
NM_001128849.2(SMARCA4):c.4642A>G (p.Asn1548Asp) rs587778684
NM_001128849.2(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441
NM_001128849.2(SMARCA4):c.602A>T (p.Gln201Leu) rs587778682
NM_001128849.2(SMARCA4):c.722_733del (p.229_230GP[6]) rs568390760
NM_001128849.2(SMARCA4):c.731C>T (p.Pro244Leu) rs587778683
NM_001128849.2(SMARCA4):c.76G>A (p.Ala26Thr) rs145867502
NM_001135608.3(ARHGAP26):c.1107T>C (p.Pro369=) rs139391817
NM_001135608.3(ARHGAP26):c.1775A>G (p.Lys592Arg) rs587778048
NM_001135608.3(ARHGAP26):c.1829C>T (p.Thr610Ile) rs200573018
NM_001135608.3(ARHGAP26):c.2099+69A>G rs562055157
NM_001135608.3(ARHGAP26):c.2185G>A (p.Asp729Asn) rs587778049
NM_001135608.3(ARHGAP26):c.307C>T (p.Arg103Trp) rs587778050
NM_001142626.2(TSHR):c.750_752delGTAinsTTT (p.Tyr251Phe) rs587778743
NM_001172567.2(MYD88):c.-9C>G rs587778544
NM_001172567.2(MYD88):c.121A>T (p.Thr41Ser) rs587778543
NM_001172567.2(MYD88):c.38C>A (p.Pro13Gln) rs587778545
NM_001172567.2(MYD88):c.80T>C (p.Met27Thr) rs201871349
NM_001198.4(PRDM1):c.1061G>A (p.Ser354Asn) rs143040512
NM_001198.4(PRDM1):c.1100C>T (p.Ser367Phe) rs372820369
NM_001198.4(PRDM1):c.1141T>C (p.Tyr381His) rs78927371
NM_001198.4(PRDM1):c.1147A>G (p.Thr383Ala) rs531488985
NM_001198.4(PRDM1):c.1148C>T (p.Thr383Met) rs548489075
NM_001198.4(PRDM1):c.1222G>C (p.Ala408Pro) rs144524449
NM_001198.4(PRDM1):c.1306A>G (p.Asn436Asp) rs587778625
NM_001198.4(PRDM1):c.1348C>T (p.Leu450Phe) rs141465160
NM_001198.4(PRDM1):c.1400C>T (p.Pro467Leu) rs77256382
NM_001198.4(PRDM1):c.220G>A (p.Gly74Ser) rs2185379
NM_001198.4(PRDM1):c.2233G>A (p.Val745Met) rs139718143
NM_001198.4(PRDM1):c.2312G>A (p.Gly771Asp) rs80257572
NM_001198.4(PRDM1):c.2464C>A (p.Pro822Thr) rs75859409
NM_001198.4(PRDM1):c.448G>A (p.Gly150Ser) rs587778624
NM_001198.4(PRDM1):c.502C>G (p.Pro168Ala) rs587778623
NM_001198.4(PRDM1):c.609C>G (p.Asp203Glu) rs811925
NM_001198.4(PRDM1):c.811A>G (p.Ile271Val) rs149024185
NM_001198.4(PRDM1):c.857G>C (p.Arg286Pro) rs17066588
NM_001211.5(BUB1B):c.1001C>T (p.Pro334Leu) rs141953425
NM_001211.5(BUB1B):c.1041_1042del (p.Ala348fs) rs587778148
NM_001211.5(BUB1B):c.1046= (p.Gln349=) rs1801376
NM_001211.5(BUB1B):c.1066T>C (p.Cys356Arg) rs370655726
NM_001211.5(BUB1B):c.10G>A (p.Val4Met) rs147549987
NM_001211.5(BUB1B):c.1170G>C (p.Glu390Asp) rs1017842
NM_001211.5(BUB1B):c.119C>T (p.Thr40Met) rs56079734
NM_001211.5(BUB1B):c.1232C>G (p.Ser411Cys) rs587778149
NM_001211.5(BUB1B):c.1397A>C (p.Asp466Ala) rs587778140
NM_001211.5(BUB1B):c.1464A>T (p.Lys488Asn) rs368023159
NM_001211.5(BUB1B):c.1478C>T (p.Thr493Ile) rs146795655
NM_001211.5(BUB1B):c.1617_1619GAA[1] (p.Lys540del) rs587778141
NM_001211.5(BUB1B):c.1853T>C (p.Val618Ala) rs1801528
NM_001211.5(BUB1B):c.1879T>C (p.Ser627Pro) rs587778142
NM_001211.5(BUB1B):c.2480A>G (p.Gln827Arg) rs587778143
NM_001211.5(BUB1B):c.3011A>G (p.Asn1004Ser) rs34998711
NM_001211.5(BUB1B):c.388C>T (p.Arg130Cys) rs587778144
NM_001211.5(BUB1B):c.572C>T (p.Ser191Phe) rs587778145
NM_001211.5(BUB1B):c.676A>C (p.Thr226Pro) rs587778146
NM_001211.5(BUB1B):c.779A>G (p.Asn260Ser) rs587778147
NM_001211.5(BUB1B):c.805A>G (p.Asn269Asp) rs148159407
NM_001267550.2(TTN):c.26762-39TTTGT[5] rs71393436
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr) rs72650057
NM_001270508.2(TNFAIP3):c.1634C>T (p.Ala545Val) rs142752989
NM_001270508.2(TNFAIP3):c.1939A>C (p.Thr647Pro) rs142253225
NM_001270508.2(TNFAIP3):c.2036T>C (p.Ile679Thr) rs140610274
NM_001270508.2(TNFAIP3):c.2231G>A (p.Gly744Asp) rs150355046
NM_001270508.2(TNFAIP3):c.305A>G (p.Asn102Ser) rs146534657
NM_001270508.2(TNFAIP3):c.322A>G (p.Thr108Ala) rs376205580
NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val) rs5029941
NM_001270508.2(TNFAIP3):c.380T>G (p.Phe127Cys) rs2230926
NM_001270508.2(TNFAIP3):c.619A>C (p.Ile207Leu) rs141807543
NM_001270508.2(TNFAIP3):c.742A>G (p.Ile248Val) rs587778711
NM_001270508.2(TNFAIP3):c.839G>A (p.Arg280Gln) rs200840068
NM_001277269.1(OTOG):c.-14_-13delinsGA rs876657677
NM_001289936.1(ERBB2):c.22C>A (p.Pro8Thr) rs4252596
NM_001291415.1(KDM6A):c.1999C>G (p.Leu667Val) rs112725812
NM_001291415.1(KDM6A):c.2333C>A (p.Thr778Lys) rs2230018
NM_001291415.1(KDM6A):c.2888G>C (p.Ser963Thr) rs201673109
NM_001291415.1(KDM6A):c.3335A>T (p.His1112Leu) rs141303384
NM_001291415.1(KDM6A):c.4105A>T (p.Ile1369Phe) rs587778422
NM_001291415.1(KDM6A):c.660A>T (p.Lys220Asn) rs587778423
NM_001291415.1(KDM6A):c.815A>G (p.Tyr272Cys) rs587778421
NM_001291415.1(KDM6A):c.88G>A (p.Ala30Thr) rs6529
NM_001300.6(KLF6):c.276C>A (p.Ser92Arg) rs587778436
NM_001300.6(KLF6):c.428C>T (p.Ser143Phe) rs200767950
NM_001300.6(KLF6):c.493G>A (p.Val165Met) rs61731927
NM_001300.6(KLF6):c.676+106G>A rs539379766
NM_001300.6(KLF6):c.676+28C>T rs192712828
NM_001300.6(KLF6):c.676+61C>T rs186624120
NM_001313903.1(NFE2L2):c.93+200G>T rs376163559
NM_001321790.2(CBLB):c.20C>G (p.Pro7Arg) rs552303618
NM_001349798.2(FBXW7):c.397A>G (p.Arg133Gly) rs6842544
NM_001349798.2(FBXW7):c.458C>G (p.Pro153Arg) rs587778350
NM_001349798.2(FBXW7):c.45_46insCCT (p.Gly16_Gly17insPro) rs541979458
NM_001349798.2(FBXW7):c.479C>T (p.Pro160Leu) rs147025249
NM_001349798.2(FBXW7):c.58A>G (p.Arg20Gly) rs115679616
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala) rs377368037
NM_001429.4(EP300):c.1403A>T (p.Tyr468Phe) rs587778262
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251
NM_001429.4(EP300):c.1654T>C (p.Ser552Pro) rs587778263
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764
NM_001429.4(EP300):c.2173A>G (p.Ile725Val) rs73885743
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752
NM_001429.4(EP300):c.2627A>T (p.Gln876Leu) rs587778254
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001429.4(EP300):c.2774dup (p.Thr926fs) rs587778253
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975
NM_001429.4(EP300):c.3615C>G (p.Phe1205Leu) rs587778255
NM_001429.4(EP300):c.376A>G (p.Met126Val) rs200635644
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) rs147676363
NM_001429.4(EP300):c.5552C>T (p.Thr1851Ile) rs587778257
NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser) rs146165770
NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala) rs200189212
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806
NM_001429.4(EP300):c.6413C>T (p.Ala2138Val) rs587778258
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979
NM_001429.4(EP300):c.6504G>A (p.Met2168Ile) rs566357328
NM_001429.4(EP300):c.6586G>A (p.Gly2196Arg) rs587778260
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.6907C>G (p.Leu2303Val) rs144787962
NM_001429.4(EP300):c.6950G>A (p.Arg2317Gln) rs149456776
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile) rs558456063
NM_001429.4(EP300):c.7139C>T (p.Pro2380Leu) rs587778259
NM_001429.4(EP300):c.752A>G (p.Asn251Ser) rs142009367
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111
NM_001429.4(EP300):c.923C>T (p.Pro308Leu) rs587778261
NM_001706.5(BCL6):c.1166A>G (p.Asn389Ser) rs150656653
NM_001706.5(BCL6):c.1364C>T (p.Thr455Met) rs541016998
NM_001706.5(BCL6):c.1375C>T (p.Arg459Cys) rs137878288
NM_001706.5(BCL6):c.143C>T (p.Thr48Met) rs200263685
NM_001706.5(BCL6):c.1477G>A (p.Ala493Thr) rs2229362
NM_001706.5(BCL6):c.1549_1550delinsAT (p.Ala517Ile) rs587778090
NM_001706.5(BCL6):c.492G>T (p.Glu164Asp) rs61752081
NM_001706.5(BCL6):c.905A>G (p.Glu302Gly) rs587778091
NM_001706.5(BCL6):c.962C>T (p.Ala321Val) rs377059215
NM_001783.3(CD79A):c.258C>A (p.Asp86Glu) rs587778166
NM_001783.3(CD79A):c.28G>A (p.Ala10Thr) rs371184689
NM_001783.3(CD79A):c.320G>A (p.Arg107Gln) rs143511203
NM_001783.3(CD79A):c.371G>A (p.Arg124His) rs144367487
NM_001783.3(CD79A):c.419C>A (p.Thr140Asn) rs148797987
NM_001783.3(CD79A):c.593T>C (p.Met198Thr) rs532288711
NM_001783.3(CD79A):c.643A>G (p.Ser215Gly) rs550589218
NM_001904.4(CTNNB1):c.1597A>G (p.Ile533Val) rs587778220
NM_001904.4(CTNNB1):c.45A>C (p.Glu15Asp) rs587778221
NM_001904.4(CTNNB1):c.605T>C (p.Met202Thr) rs587778222
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser) rs35288908
NM_001943.5(DSG2):c.*2C>T rs183494886
NM_001943.5(DSG2):c.-11G>A rs727504450
NM_001943.5(DSG2):c.-15G>A rs727502982
NM_002049.3(GATA1):c.163G>A (p.Ala55Thr) rs150572851
NM_002049.3(GATA1):c.949C>T (p.Arg317Trp) rs781964937
NM_002067.5(GNA11):c.193G>A (p.Ala65Thr) rs147528229
NM_002185.5(IL7R):c.1043A>C (p.Asn348Thr) rs41270321
NM_002185.5(IL7R):c.1066A>G (p.Ile356Val) rs3194051
NM_002185.5(IL7R):c.1092T>G (p.Asp364Glu) rs201216012
NM_002185.5(IL7R):c.1096T>C (p.Ser366Pro) rs201671392
NM_002185.5(IL7R):c.1099C>T (p.Leu367Phe) rs587778406
NM_002185.5(IL7R):c.1231A>G (p.Thr411Ala) rs115316501
NM_002185.5(IL7R):c.1241C>T (p.Thr414Met) rs2229232
NM_002185.5(IL7R):c.1357T>C (p.Ser453Pro) rs141919625
NM_002185.5(IL7R):c.149G>T (p.Gly50Val) rs202083738
NM_002185.5(IL7R):c.152C>T (p.Ser51Leu) rs138482569
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555
NM_002185.5(IL7R):c.438T>A (p.Phe146Leu) rs587778403
NM_002185.5(IL7R):c.460C>T (p.His154Tyr) rs199727195
NM_002185.5(IL7R):c.590C>T (p.Pro197Leu) rs587778404
NM_002185.5(IL7R):c.662G>T (p.Ser221Ile) rs587778405
NM_002185.5(IL7R):c.731C>T (p.Thr244Ile) rs6897932
NM_002185.5(IL7R):c.760G>A (p.Ala254Thr) rs137868226
NM_002185.5(IL7R):c.772A>G (p.Ile258Val) rs200150755
NM_002185.5(IL7R):c.952G>A (p.Asp318Asn) rs200521932
NM_002227.4(JAK1):c.1078C>T (p.Arg360Trp) rs200049537
NM_002227.4(JAK1):c.1516C>T (p.Arg506Cys) rs61735631
NM_002227.4(JAK1):c.184A>G (p.Ile62Val) rs202021264
NM_002227.4(JAK1):c.1951G>A (p.Val651Met) rs149968614
NM_002227.4(JAK1):c.2234C>T (p.Thr745Met) rs587778407
NM_002227.4(JAK1):c.2469C>T (p.Leu823=) rs560585690
NM_002227.4(JAK1):c.2498A>G (p.Asn833Ser) rs187043211
NM_002227.4(JAK1):c.2749A>G (p.Asn917Asp) rs539218457
NM_002227.4(JAK1):c.3463T>C (p.Ter1155Gln) rs200563303
NM_002253.3(KDR):c.-1G>T rs56233104
NM_002253.3(KDR):c.1055C>T (p.Ala352Val) rs151317075
NM_002253.3(KDR):c.1116G>C (p.Glu372Asp) rs113121239
NM_002253.3(KDR):c.1151C>T (p.Thr384Met) rs201708587
NM_002253.3(KDR):c.1192G>A (p.Val398Ile) rs587778430
NM_002253.3(KDR):c.1384T>G (p.Leu462Val) rs56286620
NM_002253.3(KDR):c.1416A>T (p.Gln472His) rs1870377
NM_002253.3(KDR):c.1444T>C (p.Cys482Arg) rs34231037
NM_002253.3(KDR):c.1493A>T (p.Glu498Val) rs587778424
NM_002253.3(KDR):c.1615G>A (p.Gly539Arg) rs55716939
NM_002253.3(KDR):c.170G>C (p.Arg57Thr) rs139047809
NM_002253.3(KDR):c.1987+28C>T rs17085310
NM_002253.3(KDR):c.2066C>T (p.Thr689Met) rs34038364
NM_002253.3(KDR):c.2305G>A (p.Val769Ile) rs587778425
NM_002253.3(KDR):c.2674A>G (p.Ile892Val) rs587778426
NM_002253.3(KDR):c.3439C>T (p.Pro1147Ser) rs121917766
NM_002253.3(KDR):c.3808A>C (p.Lys1270Gln) rs587778427
NM_002253.3(KDR):c.406G>A (p.Val136Met) rs35636987
NM_002253.3(KDR):c.724C>T (p.Leu242Phe) rs587778428
NM_002253.3(KDR):c.787C>T (p.Pro263Ser) rs587778429
NM_002253.3(KDR):c.794C>T (p.Ser265Leu) rs539911006
NM_002253.3(KDR):c.889G>A (p.Val297Ile) rs2305948
NM_002253.3(KDR):c.895C>T (p.Arg299Trp) rs368062574
NM_002471.3(MYH6):c.3979-17dup rs193922652
NM_002471.3(MYH6):c.3979-8delC rs193922652
NM_002485.4(NBN):c.1405G>T (p.Asp469Tyr) rs148205441
NM_002485.4(NBN):c.1489A>G (p.Thr497Ala) rs3026268
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) rs142334798
NM_002485.4(NBN):c.2146A>G (p.Asn716Asp) rs72563785
NM_002485.4(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.4(NBN):c.321-2A>G rs587777931
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.520C>A (p.Pro174Thr) rs587778546
NM_002485.4(NBN):c.553G>C (p.Glu185Gln) rs1805794
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.4(NBN):c.797C>T (p.Pro266Leu) rs769420
NM_002485.4(NBN):c.872A>G (p.Gln291Arg) rs587778547
NM_002520.6(NPM1):c.-1G>T rs587777962
NM_002520.6(NPM1):c.362A>G (p.Glu121Gly) rs587778580
NM_002520.6(NPM1):c.428C>G (p.Ser143Cys) rs375558588
NM_002520.6(NPM1):c.476_478CTG[1] (p.Ala160del) rs587778581
NM_002524.5(NRAS):c.504G>C (p.Met168Ile) rs367918552
NM_002734.4(PRKAR1A):c.530T>C (p.Ile177Thr) rs587778626
NM_002834.4(PTPN11):c.148G>A (p.Ala50Thr) rs587778636
NM_002834.4(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634
NM_002834.4(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.4(PTPN11):c.455G>A (p.Arg152His) rs397507521
NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_003000.2(SDHB):c.170A>G (p.His57Arg) rs35962811
NM_003000.2(SDHB):c.344G>A (p.Arg115Gln) rs200973284
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_003001.3(SDHC):c.*20T>G rs587778662
NM_003001.3(SDHC):c.*84G>C rs201210474
NM_003001.3(SDHC):c.148C>T (p.Arg50Cys) rs587778661
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys) rs141802836
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003002.4(SDHD):c.255G>T (p.Leu85Phe) rs199517389
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys) rs142135772
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_003002.4(SDHD):c.480A>G (p.Ter160Trp) rs587778663
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val) rs367768260
NM_003073.5(SMARCB1):c.500+111C>A rs35070121
NM_003073.5(SMARCB1):c.500+114A>G rs587777975
NM_003073.5(SMARCB1):c.500+116C>T rs35782584
NM_003073.5(SMARCB1):c.500+234C>G rs738797
NM_003073.5(SMARCB1):c.500+24C>G rs199737164
NM_003073.5(SMARCB1):c.500+305C>A rs35502837
NM_003073.5(SMARCB1):c.500+41G>A rs587777973
NM_003073.5(SMARCB1):c.500+65G>A rs34545858
NM_003238.5(TGFB2):c.510+12TTG[12] rs10482769
NM_003400.4(XPO1):c.1159T>C (p.Ser387Pro) rs587778764
NM_003400.4(XPO1):c.1385-49A>G rs587778011
NM_003476.4(CSRP3):c.-74A>C rs45498797
NM_003476.4(CSRP3):c.-84A>G rs727504617
NM_003476.4(CSRP3):c.-88A>G rs727502947
NM_003476.5(CSRP3):c.*12G>A rs45607943
NM_003482.3(KMT2D):c.10024C>T (p.Arg3342Cys) rs371869550
NM_003482.3(KMT2D):c.10045A>G (p.Met3349Val) rs80149580
NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) rs75937132
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_003482.3(KMT2D):c.1057C>A (p.Gln353Lys) rs587778487
NM_003482.3(KMT2D):c.10966C>T (p.Arg3656Cys) rs201283589
NM_003482.3(KMT2D):c.10987G>A (p.Ala3663Thr) rs587778476
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.11120G>A (p.Arg3707Gln) rs587778477
NM_003482.3(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516
NM_003482.3(KMT2D):c.1115T>A (p.Phe372Tyr) rs367758673
NM_003482.3(KMT2D):c.1120C>A (p.Pro374Thr) rs202013880
NM_003482.3(KMT2D):c.11610G>A (p.Met3870Ile) rs73302195
NM_003482.3(KMT2D):c.11875C>A (p.Gln3959Lys) rs587778473
NM_003482.3(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640
NM_003482.3(KMT2D):c.12139G>A (p.Gly4047Arg) rs587778478
NM_003482.3(KMT2D):c.12800C>T (p.Pro4267Leu) rs587778474
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.12980G>A (p.Ser4327Asn) rs587778479
NM_003482.3(KMT2D):c.13009C>G (p.Pro4337Ala) rs587778475
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.13081G>A (p.Ala4361Thr) rs201938646
NM_003482.3(KMT2D):c.13220T>C (p.Val4407Ala) rs185126345
NM_003482.3(KMT2D):c.13582G>A (p.Ala4528Thr) rs587778480
NM_003482.3(KMT2D):c.13796C>T (p.Ala4599Val) rs577303074
NM_003482.3(KMT2D):c.13817A>G (p.Tyr4606Cys) rs587778481
NM_003482.3(KMT2D):c.13969T>C (p.Ser4657Pro) rs587778482
NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483
NM_003482.3(KMT2D):c.1426G>A (p.Ala476Thr) rs1064210
NM_003482.3(KMT2D):c.14749C>T (p.Pro4917Ser) rs587778485
NM_003482.3(KMT2D):c.15011A>T (p.Glu5004Val) rs587778484
NM_003482.3(KMT2D):c.15317G>A (p.Arg5106His) rs587778486
NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) rs3782356
NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) rs201481646
NM_003482.3(KMT2D):c.1579C>T (p.Pro527Ser) rs587778450
NM_003482.3(KMT2D):c.1672C>T (p.Pro558Ser) rs587778451
NM_003482.3(KMT2D):c.1677_1703del (p.Glu560_Glu568del) rs587778448
NM_003482.3(KMT2D):c.191G>A (p.Arg64Gln) rs587778462
NM_003482.3(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833
NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524
NM_003482.3(KMT2D):c.2186C>T (p.Pro729Leu) rs587778452
NM_003482.3(KMT2D):c.2222C>T (p.Pro741Leu) rs587778453
NM_003482.3(KMT2D):c.2250_2276del (p.746_754RPEEPHLSP[1]) rs587778449
NM_003482.3(KMT2D):c.2438C>T (p.Pro813Leu) rs75226229
NM_003482.3(KMT2D):c.248G>A (p.Arg83Gln) rs55865069
NM_003482.3(KMT2D):c.2546C>T (p.Ser849Leu) rs370492566
NM_003482.3(KMT2D):c.2656C>A (p.Pro886Thr) rs199946966
NM_003482.3(KMT2D):c.2656C>G (p.Pro886Ala) rs199946966
NM_003482.3(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.3(KMT2D):c.305G>A (p.Ser102Asn) rs368471915
NM_003482.3(KMT2D):c.3180_3181delinsTT (p.Lys1060_Val1061delinsAsnLeu) rs587778454
NM_003482.3(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653
NM_003482.3(KMT2D):c.3902A>G (p.Lys1301Arg) rs587778455
NM_003482.3(KMT2D):c.3993_3995del (p.Thr1332del) rs587778456
NM_003482.3(KMT2D):c.4030A>G (p.Ile1344Val) rs574134747
NM_003482.3(KMT2D):c.5129C>T (p.Thr1710Met) rs587778457
NM_003482.3(KMT2D):c.5207C>G (p.Pro1736Arg) rs587778458
NM_003482.3(KMT2D):c.5386C>T (p.Arg1796Trp) rs186948725
NM_003482.3(KMT2D):c.5477G>T (p.Gly1826Val) rs574989512
NM_003482.3(KMT2D):c.5504G>T (p.Arg1835Leu) rs368134008
NM_003482.3(KMT2D):c.553C>T (p.Arg185Cys) rs201796530
NM_003482.3(KMT2D):c.5546G>A (p.Gly1849Glu) rs587778459
NM_003482.3(KMT2D):c.5732C>A (p.Thr1911Asn) rs587778460
NM_003482.3(KMT2D):c.5753G>A (p.Arg1918His) rs587778461
NM_003482.3(KMT2D):c.6284G>A (p.Arg2095His) rs374216845
NM_003482.3(KMT2D):c.6317T>C (p.Ile2106Thr) rs587778467
NM_003482.3(KMT2D):c.6319C>A (p.Pro2107Thr) rs201977719
NM_003482.3(KMT2D):c.6392C>A (p.Thr2131Asn) rs587778463
NM_003482.3(KMT2D):c.6445T>C (p.Ser2149Pro) rs587778468
NM_003482.3(KMT2D):c.6505G>A (p.Ala2169Thr) rs369501280
NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869
NM_003482.3(KMT2D):c.6643T>A (p.Ser2215Thr) rs200080744
NM_003482.3(KMT2D):c.6740C>G (p.Pro2247Arg) rs587778464
NM_003482.3(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944
NM_003482.3(KMT2D):c.6811C>T (p.Pro2271Ser) rs199802471
NM_003482.3(KMT2D):c.6812C>T (p.Pro2271Leu) rs587778465
NM_003482.3(KMT2D):c.6832T>G (p.Phe2278Val) rs587778469
NM_003482.3(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414
NM_003482.3(KMT2D):c.6901C>T (p.Pro2301Ser) rs200681496
NM_003482.3(KMT2D):c.7144C>T (p.Pro2382Ser) rs3741626
NM_003482.3(KMT2D):c.7229G>A (p.Arg2410Gln) rs587778466
NM_003482.3(KMT2D):c.7490C>T (p.Ala2497Val) rs376603595
NM_003482.3(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707
NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971
NM_003482.3(KMT2D):c.8006T>G (p.Met2669Arg) rs372520829
NM_003482.3(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_003482.3(KMT2D):c.8695G>A (p.Gly2899Ser) rs587778472
NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661
NM_003482.3(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471
NM_003482.3(KMT2D):c.9418A>G (p.Lys3140Glu) rs587778470
NM_003482.3(KMT2D):c.9482T>C (p.Met3161Thr) rs199831827
NM_003482.3(KMT2D):c.9662C>A (p.Thr3221Asn) rs200601717
NM_003573.2(LTBP4):c.3125dup (p.Tyr1043fs) rs59030801
NM_003745.1(SOCS1):c.134_139dup (p.Val45_Pro46dup) rs587778690
NM_003745.1(SOCS1):c.138_143GGCCCC[1] (p.47_48AP[1]) rs587778691
NM_003745.1(SOCS1):c.16C>G (p.Gln6Glu) rs587778692
NM_003745.1(SOCS1):c.398G>C (p.Gly133Ala) rs587778693
NM_003745.1(SOCS1):c.630G>C (p.Gln210His) rs11549428
NM_003820.3(TNFRSF14):c.304+545C>T rs11573975
NM_003820.3(TNFRSF14):c.304+606C>G rs11573976
NM_003820.3(TNFRSF14):c.304+624C>T rs587777980
NM_003820.3(TNFRSF14):c.304+642C>T rs587777981
NM_003820.3(TNFRSF14):c.305-171G>A rs587777995
NM_003820.3(TNFRSF14):c.305-191C>G rs143696469
NM_003820.3(TNFRSF14):c.305-191C>T rs143696469
NM_003820.3(TNFRSF14):c.305-201G>A rs112070015
NM_003820.3(TNFRSF14):c.305-249C>T rs587777992
NM_003820.3(TNFRSF14):c.305-308C>T rs559512818
NM_003820.3(TNFRSF14):c.305-320C>A rs2281852
NM_003820.3(TNFRSF14):c.305-328C>A rs143920314
NM_003820.3(TNFRSF14):c.305-364C>A rs2257763
NM_003820.3(TNFRSF14):c.305-397T>A rs587777987
NM_003820.3(TNFRSF14):c.305-401G>T rs587777986
NM_003820.3(TNFRSF14):c.305-462G>T rs587777985
NM_003820.3(TNFRSF14):c.305-476C>T rs535767072
NM_003820.3(TNFRSF14):c.305-57C>T rs2234161
NM_003820.3(TNFRSF14):c.305-59_305-57delinsACT rs587777998
NM_003820.3(TNFRSF14):c.305-653T>C rs148507536
NM_003820.3(TNFRSF14):c.305-654A>G rs565961218
NM_003820.3(TNFRSF14):c.305-98G>A rs2234160
NM_003820.3(TNFRSF14):c.348C>T (p.Asn116=) rs2234162
NM_003820.3(TNFRSF14):c.349G>A (p.Ala117Thr) rs2234163
NM_003820.3(TNFRSF14):c.405C>T (p.Cys135=) rs587778716
NM_003820.3(TNFRSF14):c.408C>T (p.Ala136=) rs35239228
NM_003820.3(TNFRSF14):c.50A>G (p.Lys17Arg) rs4870
NM_003820.3(TNFRSF14):c.521G>A (p.Gly174Glu) rs11573986
NM_003820.3(TNFRSF14):c.552-140C>T rs587778000
NM_003820.3(TNFRSF14):c.552-165del rs149579135
NM_003820.3(TNFRSF14):c.721G>A (p.Val241Ile) rs2234167
NM_003820.3(TNFRSF14):c.785C>T (p.Pro262Leu) rs371087831
NM_003820.3(TNFRSF14):c.797C>T (p.Thr266Met) rs587778717
NM_003902.4(FUBP1):c.1429C>T (p.Pro477Ser) rs587778375
NM_003902.4(FUBP1):c.1588A>G (p.Thr530Ala) rs150162389
NM_003902.4(FUBP1):c.1801A>G (p.Thr601Ala) rs587778376
NM_003902.4(FUBP1):c.243A>C (p.Gln81His) rs138606412
NM_003902.4(FUBP1):c.538G>T (p.Gly180Cys) rs587778377
NM_003902.4(FUBP1):c.56G>A (p.Gly19Asp) rs587778373
NM_003902.4(FUBP1):c.992G>A (p.Arg331Gln) rs587778374
NM_003924.3(PHOX2B):c.59G>C (p.Gly20Ala) rs587778605
NM_003924.3(PHOX2B):c.617C>G (p.Pro206Arg) rs587778606
NM_003924.3(PHOX2B):c.826G>A (p.Gly276Ser) rs587778607
NM_004085.4(TIMM8A):c.-11G>T rs727503478
NM_004119.2(FLT3):c.1073A>T (p.Asp358Val) rs34172843
NM_004119.2(FLT3):c.1181A>G (p.Gln394Arg) rs587778372
NM_004119.2(FLT3):c.1249A>C (p.Ile417Leu) rs56090538
NM_004119.2(FLT3):c.1669G>A (p.Val557Ile) rs35958982
NM_004119.2(FLT3):c.190G>A (p.Gly64Arg) rs376895552
NM_004119.2(FLT3):c.2050T>C (p.Ser684Pro) rs199906407
NM_004119.2(FLT3):c.2858C>T (p.Ala953Val) rs145998293
NM_004119.2(FLT3):c.2888C>T (p.Ser963Leu) rs138003347
NM_004119.2(FLT3):c.2918G>A (p.Arg973Gln) rs144397269
NM_004119.2(FLT3):c.2957C>T (p.Pro986Leu) rs587778369
NM_004119.2(FLT3):c.2962G>C (p.Ala988Pro) rs74041526
NM_004119.2(FLT3):c.2971G>A (p.Glu991Lys) rs573326027
NM_004119.2(FLT3):c.452A>G (p.Asn151Ser) rs560052209
NM_004119.2(FLT3):c.46G>C (p.Val16Leu) rs62636526
NM_004119.2(FLT3):c.580G>A (p.Val194Met) rs146030737
NM_004119.2(FLT3):c.605A>G (p.Gln202Arg) rs551777447
NM_004119.2(FLT3):c.680C>T (p.Thr227Met) rs1933437
NM_004119.2(FLT3):c.784C>T (p.Leu262Phe) rs587778370
NM_004119.2(FLT3):c.833A>C (p.Asn278Thr) rs550878210
NM_004119.2(FLT3):c.844G>A (p.Gly282Arg) rs587778371
NM_004119.2(FLT3):c.970G>A (p.Asp324Asn) rs35602083
NM_004187.4(KDM5C):c.*132C>G rs781910906
NM_004187.4(KDM5C):c.2507A>G (p.Gln836Arg) rs192633186
NM_004187.4(KDM5C):c.2705A>G (p.Gln902Arg) rs797044472
NM_004187.4(KDM5C):c.4030A>G (p.Met1344Val) rs797044473
NM_004187.4(KDM5C):c.4498G>A (p.Glu1500Lys) rs782774569
NM_004187.4(KDM5C):c.4597A>C (p.Thr1533Pro) rs145666414
NM_004187.4(KDM5C):c.738G>C (p.Met246Ile) rs797044474
NM_004260.3(RECQL4):c.1072A>G (p.Met358Val) rs371503929
NM_004260.3(RECQL4):c.1090G>A (p.Val364Met) rs144637135
NM_004260.3(RECQL4):c.1115G>C (p.Arg372Thr) rs200097701
NM_004260.3(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624
NM_004260.3(RECQL4):c.1237_1238delinsAG (p.Ala413Arg) rs587778652
NM_004260.3(RECQL4):c.1415C>T (p.Ala472Val) rs587778653
NM_004260.3(RECQL4):c.1417C>G (p.Leu473Val) rs587778654
NM_004260.3(RECQL4):c.1519G>A (p.Gly507Ser) rs587778655
NM_004260.3(RECQL4):c.1564C>T (p.Arg522Cys) rs35407712
NM_004260.3(RECQL4):c.1565G>A (p.Arg522His) rs35842750
NM_004260.3(RECQL4):c.1576C>T (p.Leu526Phe) rs200732690
NM_004260.3(RECQL4):c.161A>G (p.Gln54Arg) rs35198096
NM_004260.3(RECQL4):c.1625C>T (p.Ser542Phe) rs369852601
NM_004260.3(RECQL4):c.1652C>T (p.Ala551Val) rs587778643
NM_004260.3(RECQL4):c.1684C>T (p.Arg562Trp) rs61759892
NM_004260.3(RECQL4):c.1697T>C (p.Leu566Pro) rs201648505
NM_004260.3(RECQL4):c.1708C>T (p.Arg570Trp) rs373178405
NM_004260.3(RECQL4):c.1726G>A (p.Val576Met) rs570331496
NM_004260.3(RECQL4):c.1772C>T (p.Pro591Leu) rs2721191
NM_004260.3(RECQL4):c.1868G>A (p.Arg623His) rs201734382
NM_004260.3(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004260.3(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.3(RECQL4):c.2131G>A (p.Glu711Lys) rs371818842
NM_004260.3(RECQL4):c.2377C>T (p.Pro793Ser) rs35098923
NM_004260.3(RECQL4):c.2385C>G (p.Phe795Leu) rs587778644
NM_004260.3(RECQL4):c.2395G>A (p.Val799Met) rs34293591
NM_004260.3(RECQL4):c.2420G>A (p.Arg807His) rs571684398
NM_004260.3(RECQL4):c.2467G>A (p.Glu823Lys) rs368611522
NM_004260.3(RECQL4):c.2557_2562TGCACC[2] (p.853_854CT[2]) rs548804317
NM_004260.3(RECQL4):c.2636C>A (p.Pro879His) rs137975310
NM_004260.3(RECQL4):c.2705G>A (p.Arg902Gln) rs372205013
NM_004260.3(RECQL4):c.274= (p.Pro92=) rs2721190
NM_004260.3(RECQL4):c.275C>T (p.Pro92Leu) rs200516441
NM_004260.3(RECQL4):c.2935G>A (p.Gly979Arg) rs587778645
NM_004260.3(RECQL4):c.3014G>A (p.Arg1005Gln) rs4251691
NM_004260.3(RECQL4):c.3058G>A (p.Val1020Met) rs114149451
NM_004260.3(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.3(RECQL4):c.307C>T (p.Pro103Ser) rs587778650
NM_004260.3(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691
NM_004260.3(RECQL4):c.3172C>G (p.Arg1058Gly) rs375297971
NM_004260.3(RECQL4):c.3184C>T (p.Arg1062Trp) rs199658221
NM_004260.3(RECQL4):c.3256G>A (p.Gly1086Arg) rs587778646
NM_004260.3(RECQL4):c.3313G>A (p.Gly1105Ser) rs34915097
NM_004260.3(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464
NM_004260.3(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495
NM_004260.3(RECQL4):c.3421T>C (p.Cys1141Arg) rs587778647
NM_004260.3(RECQL4):c.3435G>C (p.Gln1145His) rs61755066
NM_004260.3(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077
NM_004260.3(RECQL4):c.3521C>T (p.Ala1174Val) rs587778648
NM_004260.3(RECQL4):c.410C>T (p.Ala137Val) rs527934999
NM_004260.3(RECQL4):c.565G>A (p.Gly189Ser) rs34371341
NM_004260.3(RECQL4):c.712G>A (p.Glu238Lys) rs587778651
NM_004260.3(RECQL4):c.716C>T (p.Ala239Val) rs146709578
NM_004260.3(RECQL4):c.755C>T (p.Pro252Leu) rs199773279
NM_004260.3(RECQL4):c.801G>C (p.Glu267Asp) rs4244612
NM_004304.5(ALK):c.106C>T (p.Pro36Ser) rs201490095
NM_004304.5(ALK):c.1100C>G (p.Pro367Arg) rs144030155
NM_004304.5(ALK):c.1111G>A (p.Ala371Thr) rs149968229
NM_004304.5(ALK):c.1215A>T (p.Glu405Asp) rs370235133
NM_004304.5(ALK):c.1427T>C (p.Val476Ala) rs35093491
NM_004304.5(ALK):c.1943C>T (p.Thr648Ile) rs116202066
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363
NM_004304.5(ALK):c.2127C>A (p.Asn709Lys) rs376175333
NM_004304.5(ALK):c.2577G>C (p.Glu859Asp) rs61754865
NM_004304.5(ALK):c.3031G>A (p.Gly1011Arg) rs587778021
NM_004304.5(ALK):c.3035C>T (p.Thr1012Met) rs35073634
NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu) rs140733978
NM_004304.5(ALK):c.3139G>A (p.Ala1047Thr) rs370049091
NM_004304.5(ALK):c.3182G>A (p.Arg1061Gln) rs72852032
NM_004304.5(ALK):c.4186G>A (p.Ala1396Thr) rs201768549
NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys) rs56181542
NM_004304.5(ALK):c.4297_4299GAG[2] (p.Glu1435del) rs138827116
NM_004304.5(ALK):c.4381A>G (p.Ile1461Val) rs1670283
NM_004304.5(ALK):c.4416A>T (p.Glu1472Asp) rs538459690
NM_004304.5(ALK):c.4472A>G (p.Lys1491Arg) rs1881420
NM_004304.5(ALK):c.4573A>G (p.Lys1525Glu) rs139437088
NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu) rs1881421
NM_004304.5(ALK):c.4796C>A (p.Pro1599His) rs1881423
NM_004304.5(ALK):c.487G>T (p.Val163Leu) rs55697431
NM_004304.5(ALK):c.522C>A (p.Phe174Leu) rs587778020
NM_004304.5(ALK):c.592G>A (p.Val198Met) rs77677701
NM_004304.5(ALK):c.776G>A (p.Arg259His) rs138686378
NM_004304.5(ALK):c.808T>C (p.Phe270Leu) rs143229596
NM_004304.5(ALK):c.932G>A (p.Arg311His) rs150966028
NM_004329.2(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_004329.2(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497
NM_004329.2(BMPR1A):c.437T>C (p.Phe146Ser) rs587778112
NM_004329.2(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010
NM_004329.2(BMPR1A):c.953A>G (p.Tyr318Cys) rs587778111
NM_004333.6(BRAF):c.2128-15dup rs373442098
NM_004333.6(BRAF):c.61G>A (p.Gly21Arg) rs587778113
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456
NM_004333.6(BRAF):c.72G>C (p.Glu24Asp) rs587778114
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004360.5(CDH1):c.113C>T (p.Thr38Met) rs587778171
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys) rs372838203
NM_004360.5(CDH1):c.1214A>G (p.Asn405Ser) rs587778175
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg) rs587778176
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met) rs587778170
NM_004360.5(CDH1):c.164T>G (p.Val55Gly) rs587778174
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154
NM_004360.5(CDH1):c.1888C>G (p.Leu630Val) rs2276331
NM_004360.5(CDH1):c.2053G>A (p.Val685Met) rs550612843
NM_004360.5(CDH1):c.2074G>A (p.Ala692Thr) rs376854556
NM_004360.5(CDH1):c.2246G>A (p.Arg749Gln) rs530717933
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004360.5(CDH1):c.24_25delinsGC (p.Ser9Pro) rs587778169
NM_004360.5(CDH1):c.289C>G (p.His97Asp) rs587778173
NM_004360.5(CDH1):c.322A>G (p.Arg108Gly) rs587778172
NM_004360.5(CDH1):c.604G>A (p.Val202Ile) rs546716073
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004364.4(CEBPA):c.1009A>T (p.Thr337Ser) rs587778192
NM_004448.3(ERBB2):c.1021+19C>T rs139636338
NM_004448.3(ERBB2):c.1021+31C>T rs374621897
NM_004448.3(ERBB2):c.1021+48C>T rs4252625
NM_004448.3(ERBB2):c.1157C>A (p.Ala386Asp) rs141116145
NM_004448.3(ERBB2):c.1169C>T (p.Ala390Val) rs587778264
NM_004448.3(ERBB2):c.1231T>G (p.Tyr411Asp) rs587778265
NM_004448.3(ERBB2):c.133A>G (p.Met45Val) rs587778266
NM_004448.3(ERBB2):c.1356G>T (p.Trp452Cys) rs4252633
NM_004448.3(ERBB2):c.140G>A (p.Arg47His) rs144019910
NM_004448.3(ERBB2):c.1466C>T (p.Pro489Leu) rs142456637
NM_004448.3(ERBB2):c.1793C>A (p.Ala598Asp) rs145409713
NM_004448.3(ERBB2):c.1960A>G (p.Ile654Val) rs1801201
NM_004448.3(ERBB2):c.1963A>G (p.Ile655Val) rs1136201
NM_004448.3(ERBB2):c.2327G>T (p.Gly776Val) rs144434331
NM_004448.3(ERBB2):c.236A>C (p.Glu79Ala) rs61737968
NM_004448.3(ERBB2):c.2440C>T (p.Arg814Cys) rs587778267
NM_004448.3(ERBB2):c.2443G>A (p.Gly815Arg) rs368094521
NM_004448.3(ERBB2):c.2790G>T (p.Glu930Asp) rs138957632
NM_004448.3(ERBB2):c.3182T>C (p.Leu1061Pro) rs141142822
NM_004448.3(ERBB2):c.3427C>A (p.Pro1143Thr) rs587778268
NM_004448.3(ERBB2):c.3428C>T (p.Pro1143Leu) rs587778269
NM_004448.3(ERBB2):c.3482G>A (p.Arg1161Gln) rs150680317
NM_004448.3(ERBB2):c.3508C>G (p.Pro1170Ala) rs1058808
NM_004448.3(ERBB2):c.3620C>T (p.Pro1207Leu) rs145772320
NM_004448.3(ERBB2):c.3647C>A (p.Ala1216Asp) rs55943169
NM_004448.3(ERBB2):c.3689G>T (p.Arg1230Leu) rs372043866
NM_004448.3(ERBB2):c.383C>G (p.Pro128Arg) rs373824622
NM_004448.3(ERBB2):c.428G>A (p.Arg143Gln) rs185670819
NM_004448.3(ERBB2):c.433C>T (p.Leu145Phe) rs527779103
NM_004448.3(ERBB2):c.43C>T (p.Leu15Phe) rs193171026
NM_004448.3(ERBB2):c.734C>T (p.Thr245Met) rs376183465
NM_004448.3(ERBB2):c.93G>T (p.Met31Ile) rs546886845
NM_004456.4(EZH2):c.1181G>C (p.Gly394Ala) rs587778305
NM_004456.4(EZH2):c.1240+48G>A rs75046025
NM_004456.4(EZH2):c.1240+9C>A rs114320893
NM_004456.4(EZH2):c.1459G>A (p.Ala487Thr) rs201135441
NM_004456.4(EZH2):c.1810G>A (p.Val604Met) rs587778302
NM_004456.4(EZH2):c.1844C>T (p.Ser615Phe) rs587778301
NM_004456.4(EZH2):c.553G>C (p.Asp185His) rs2302427
NM_004456.4(EZH2):c.557_559ATG[3] (p.Asp189del) rs587778303
NM_004456.4(EZH2):c.848C>T (p.Thr283Met) rs587778304
NM_004456.4(EZH2):c.965A>G (p.Asn322Ser) rs151023145
NM_004484.3(GPC3):c.1285G>A (p.Val429Met) rs11539789
NM_004484.3(GPC3):c.1426A>T (p.Met476Leu) rs200265913
NM_004484.3(GPC3):c.358C>T (p.Arg120Cys) rs587778392
NM_004484.3(GPC3):c.826G>A (p.Gly276Ser) rs141100113
NM_004628.4(XPC):c.1000C>T (p.Pro334Ser) rs200338014
NM_004628.4(XPC):c.1001C>A (p.Pro334His) rs74737358
NM_004628.4(XPC):c.1022C>G (p.Ala341Gly) rs192285219
NM_004628.4(XPC):c.1177C>T (p.Arg393Trp) rs121965090
NM_004628.4(XPC):c.1229A>G (p.Glu410Gly) rs587778762
NM_004628.4(XPC):c.142C>T (p.Leu48Phe) rs2229089
NM_004628.4(XPC):c.1475G>A (p.Arg492His) rs2227999
NM_004628.4(XPC):c.1496C>T (p.Ala499Val) rs2228000
NM_004628.4(XPC):c.1539G>C (p.Met513Ile) rs3731130
NM_004628.4(XPC):c.1780C>T (p.Arg594Cys) rs183238369
NM_004628.4(XPC):c.1841T>C (p.Phe614Ser) rs144766677
NM_004628.4(XPC):c.1921T>C (p.Tyr641His) rs587778758
NM_004628.4(XPC):c.2061G>A (p.Arg687=) rs2227998
NM_004628.4(XPC):c.2066C>T (p.Thr689Met) rs3731152
NM_004628.4(XPC):c.2404G>A (p.Gly802Ser) rs200148127
NM_004628.4(XPC):c.2537G>C (p.Gly846Ala) rs55779831
NM_004628.4(XPC):c.2621C>T (p.Pro874Leu) rs375859472
NM_004628.4(XPC):c.2633C>G (p.Ala878Gly) rs183167499
NM_004628.4(XPC):c.2782A>C (p.Lys928Gln) rs3731177
NM_004628.4(XPC):c.300G>A (p.Arg100=) rs2228002
NM_004628.4(XPC):c.37G>C (p.Gly13Arg) rs201273381
NM_004628.4(XPC):c.46C>G (p.Leu16Val) rs1870134
NM_004628.4(XPC):c.478G>T (p.Val160Leu) rs587778763
NM_004628.4(XPC):c.52A>C (p.Ser18Arg) rs587778757
NM_004628.4(XPC):c.597A>C (p.Lys199Asn) rs587778759
NM_004628.4(XPC):c.718C>T (p.Arg240Cys) rs552222088
NM_004628.4(XPC):c.736C>T (p.Pro246Ser) rs587778761
NM_004628.4(XPC):c.755A>G (p.Tyr252Cys) rs587778760
NM_004628.4(XPC):c.860T>G (p.Phe287Cys) rs35629274
NM_004628.4(XPC):c.872C>G (p.Ser291Cys) rs184879571
NM_004629.1(FANCG):c.-1C>T rs587777946
NM_004629.1(FANCG):c.1133C>T (p.Ser378Leu) rs4986939
NM_004629.1(FANCG):c.1157C>G (p.Pro386Arg) rs141147618
NM_004629.1(FANCG):c.1366del (p.His456fs) rs587778345
NM_004629.1(FANCG):c.1538G>A (p.Arg513Gln) rs17885240
NM_004629.1(FANCG):c.176G>A (p.Gly59Glu) rs538555981
NM_004629.1(FANCG):c.1852_1853del (p.Lys618fs) rs532302967
NM_004629.1(FANCG):c.196G>A (p.Val66Ile) rs587778346
NM_004629.1(FANCG):c.20C>T (p.Ser7Phe) rs35984312
NM_004629.1(FANCG):c.366G>C (p.Trp122Cys) rs546023787
NM_004629.1(FANCG):c.640C>T (p.Arg214Cys) rs61757385
NM_004629.1(FANCG):c.77A>G (p.Gln26Arg) rs200677800
NM_004629.1(FANCG):c.863G>T (p.Arg288Met) rs587778347
NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) rs2237857
NM_004629.1(FANCG):c.988C>T (p.Pro330Ser) rs4986940
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser) rs372586694
NM_004656.4(BAP1):c.1325C>G (p.Pro442Arg) rs587778089
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg) rs576538858
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg) rs370004702
NM_004656.4(BAP1):c.1786A>G (p.Ser596Gly) rs79014342
NM_004656.4(BAP1):c.1838C>T (p.Thr613Met) rs35448940
NM_004656.4(BAP1):c.905C>T (p.Pro302Leu) rs149158790
NM_004972.3(JAK2):c.1009A>G (p.Asn337Asp) rs149683525
NM_004972.3(JAK2):c.1174G>A (p.Val392Met) rs200018153
NM_004972.3(JAK2):c.1177C>G (p.Leu393Val) rs2230723
NM_004972.3(JAK2):c.1700T>C (p.Val567Ala) rs587778408
NM_004972.3(JAK2):c.2011C>T (p.His671Tyr) rs587778409
NM_004972.3(JAK2):c.2171T>C (p.Ile724Thr) rs372254348
NM_004972.3(JAK2):c.2538G>C (p.Glu846Asp) rs150221602
NM_004972.3(JAK2):c.2882G>C (p.Cys961Ser) rs587778410
NM_004972.3(JAK2):c.3188G>A (p.Arg1063His) rs41316003
NM_004972.3(JAK2):c.3288T>A (p.Asp1096Glu) rs62637626
NM_004972.3(JAK2):c.3323A>G (p.Asn1108Ser) rs142269166
NM_004972.3(JAK2):c.380G>A (p.Gly127Asp) rs56118985
NM_004972.3(JAK2):c.406A>T (p.Ile136Leu) rs140052813
NM_004972.3(JAK2):c.718T>C (p.Phe240Leu) rs587778412
NM_004972.3(JAK2):c.721A>C (p.Ser241Arg) rs587778411
NM_004985.5(KRAS):c.528_530GAA[1] (p.Lys180del) rs397517043
NM_004999.4(MYO6):c.-12_-10CCT[1] rs727504951
NM_005089.3(ZRSR2):c.1303_1304delinsAT (p.Arg435Met) rs587778765
NM_005089.3(ZRSR2):c.1307G>A (p.Gly436Asp) rs587778766
NM_005089.3(ZRSR2):c.283G>A (p.Ala95Thr) rs188867560
NM_005089.3(ZRSR2):c.748G>A (p.Val250Met) rs587778767
NM_005120.3(MED12):c.1313G>A (p.Arg438His) rs587778439
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437
NM_005120.3(MED12):c.5593A>G (p.Met1865Val) rs587778438
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005120.3(MED12):c.568A>G (p.Ile190Val) rs374780236
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107
NM_005157.6(ABL1):c.128G>A (p.Ser43Asn) rs61741003
NM_005157.6(ABL1):c.1417C>G (p.Arg473Gly) rs377657490
NM_005157.6(ABL1):c.1418G>A (p.Arg473Gln) rs62638716
NM_005157.6(ABL1):c.1736C>T (p.Pro579Leu) rs587778013
NM_005157.6(ABL1):c.1766G>A (p.Arg589His) rs376925416
NM_005157.6(ABL1):c.2009A>G (p.Asn670Ser) rs61746126
NM_005157.6(ABL1):c.2116G>A (p.Gly706Ser) rs143837301
NM_005157.6(ABL1):c.2143C>T (p.Arg715Cys) rs587778014
NM_005157.6(ABL1):c.2350C>G (p.Pro784Ala) rs201376463
NM_005157.6(ABL1):c.2416C>A (p.Pro806Thr) rs149412304
NM_005157.6(ABL1):c.2429C>T (p.Pro810Leu) rs2229071
NM_005157.6(ABL1):c.2494C>A (p.His832Asn) rs377450717
NM_005157.6(ABL1):c.2581G>A (p.Ala861Thr) rs199613441
NM_005157.6(ABL1):c.2626A>G (p.Arg876Gly) rs587778012
NM_005157.6(ABL1):c.287A>G (p.Asn96Ser) rs587778016
NM_005157.6(ABL1):c.2882C>T (p.Pro961Leu) rs557879885
NM_005157.6(ABL1):c.2915C>T (p.Ser972Leu) rs2229067
NM_005157.6(ABL1):c.2930G>A (p.Ser977Asn) rs587778015
NM_005157.6(ABL1):c.740A>G (p.Lys247Arg) rs34549764
NM_005157.6(ABL1):c.808G>T (p.Val270Leu) rs587778017
NM_005163.2(AKT1):c.1373T>C (p.Met458Thr) rs587778018
NM_005163.2(AKT1):c.138C>A (p.Asp46Glu) rs146875699
NM_005163.2(AKT1):c.225C>G (p.Ile75Met) rs587778019
NM_005188.3(CBL):c.1858C>T (p.Leu620Phe) rs2227988
NM_005188.3(CBL):c.2050C>T (p.Pro684Ser) rs587778154
NM_005188.3(CBL):c.2077G>A (p.Glu693Lys) rs587778156
NM_005188.3(CBL):c.2125C>T (p.Arg709Trp) rs587778155
NM_005188.3(CBL):c.2224C>T (p.Pro742Ser) rs587778157
NM_005188.3(CBL):c.2269G>A (p.Ala757Thr) rs146517083
NM_005188.3(CBL):c.2393C>T (p.Ser798Phe) rs587778158
NM_005188.3(CBL):c.2530A>C (p.Ser844Arg) rs587778159
NM_005188.3(CBL):c.2710G>A (p.Val904Ile) rs17122769
NM_005188.3(CBL):c.271A>G (p.Thr91Ala) rs587778160
NM_005188.3(CBL):c.388A>G (p.Ile130Val) rs587778161
NM_005188.3(CBL):c.560C>T (p.Ala187Val) rs587778162
NM_005228.5(EGFR):c.1177G>C (p.Asp393His) rs587778246
NM_005228.5(EGFR):c.1443T>G (p.Phe481Leu) rs587778247
NM_005228.5(EGFR):c.1534C>T (p.Pro512Ser) rs587778248
NM_005228.5(EGFR):c.1562G>A (p.Arg521Lys) rs2227983
NM_005228.5(EGFR):c.1570G>A (p.Val524Ile) rs587778249
NM_005228.5(EGFR):c.1580G>A (p.Arg527Gln) rs150477666
NM_005228.5(EGFR):c.1632T>C (p.Gly544=) rs17290103
NM_005228.5(EGFR):c.1881-641C>T rs10258568
NM_005228.5(EGFR):c.1881-831C>A rs140443314
NM_005228.5(EGFR):c.2024G>A (p.Arg675Gln) rs150423237
NM_005228.5(EGFR):c.2061+2T>C rs587777939
NM_005228.5(EGFR):c.2224G>A (p.Val742Ile) rs587778250
NM_005228.5(EGFR):c.2885G>A (p.Arg962His) rs144496976
NM_005228.5(EGFR):c.2963A>C (p.His988Pro) rs17290699
NM_005228.5(EGFR):c.2981_2983delinsGTG (p.Asp994_Ser995delinsGlyAla) rs587778251
NM_005228.5(EGFR):c.3271+42T>G rs587777940
NM_005228.5(EGFR):c.3271+81C>T rs587777941
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro) rs149174093
NM_005228.5(EGFR):c.3485G>A (p.Ser1162Asn) rs41321844
NM_005228.5(EGFR):c.493C>T (p.Arg165Trp) rs587778252
NM_005236.2(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802
NM_005236.2(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067
NM_005236.2(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259
NM_005236.2(ERCC4):c.1447A>G (p.Arg483Gly) rs587778286
NM_005236.2(ERCC4):c.1488A>T (p.Gln496His) rs146601373
NM_005236.2(ERCC4):c.1523G>A (p.Gly508Glu) rs587778288
NM_005236.2(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412
NM_005236.2(ERCC4):c.1606G>C (p.Val536Leu) rs143347563
NM_005236.2(ERCC4):c.1657A>G (p.Ile553Val) rs376216413
NM_005236.2(ERCC4):c.16C>T (p.Pro6Ser) rs61760160
NM_005236.2(ERCC4):c.1711C>T (p.His571Tyr) rs587778287
NM_005236.2(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068
NM_005236.2(ERCC4):c.176T>A (p.Val59Glu) rs587778283
NM_005236.2(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955
NM_005236.2(ERCC4):c.2017+1G>A rs587777943
NM_005236.2(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069
NM_005236.2(ERCC4):c.211T>C (p.Tyr71His) rs145315496
NM_005236.2(ERCC4):c.217A>G (p.Ile73Val) rs141591400
NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005236.2(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.2(ERCC4):c.2477C>T (p.Ala826Val) rs141790888
NM_005236.2(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605
NM_005236.2(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933
NM_005236.2(ERCC4):c.2590C>T (p.Arg864Cys) rs587778284
NM_005236.2(ERCC4):c.2608G>A (p.Val870Ile) rs562305007
NM_005236.2(ERCC4):c.2617A>G (p.Ile873Val) rs2020957
NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124
NM_005236.2(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735
NM_005236.2(ERCC4):c.79C>T (p.Leu27Phe) rs587778282
NM_005236.2(ERCC4):c.938T>C (p.Leu313Pro) rs150244523
NM_005236.2(ERCC4):c.988G>C (p.Asp330His) rs587778285
NM_005343.4(HRAS):c.36C>A (p.Gly12=) rs727504424
NM_005343.4(HRAS):c.450+171C>T rs376091236
NM_005343.4(HRAS):c.473C>T (p.Thr158Met) rs587778400
NM_005359.5(SMAD4):c.38A>G (p.Asn13Ser) rs281875323
NM_005359.5(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005359.5(SMAD4):c.880A>G (p.Met294Val) rs7238500
NM_005359.5(SMAD4):c.947A>G (p.Asn316Ser) rs377119288
NM_005373.2(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.2(MPL):c.1102G>T (p.Val368Leu) rs149810307
NM_005373.2(MPL):c.1120A>G (p.Thr374Ala) rs190983971
NM_005373.2(MPL):c.1120_1121delinsGG (p.Thr374Gly) rs587778520
NM_005373.2(MPL):c.117G>T (p.Lys39Asn) rs17292650
NM_005373.2(MPL):c.1565+5C>T rs41269541
NM_005373.2(MPL):c.1621C>T (p.Gln541Ter) rs369156948
NM_005373.2(MPL):c.1745T>C (p.Leu582Pro) rs587778513
NM_005373.2(MPL):c.209C>T (p.Pro70Leu) rs61754776
NM_005373.2(MPL):c.235_236del (p.Leu79fs) rs587778514
NM_005373.2(MPL):c.263G>A (p.Gly88Glu) rs587778516
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_005373.2(MPL):c.340G>A (p.Val114Met) rs12731981
NM_005373.2(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.2(MPL):c.530dup (p.Asn178fs) rs587778517
NM_005373.2(MPL):c.619G>A (p.Asp207Asn) rs201385967
NM_005373.2(MPL):c.622C>A (p.Gln208Lys) rs111460954
NM_005373.2(MPL):c.655C>G (p.Gln219Glu) rs142737453
NM_005373.2(MPL):c.690A>G (p.Glu230=) rs16830693
NM_005373.2(MPL):c.733G>A (p.Gly245Arg) rs587778519
NM_005373.2(MPL):c.744_747dup (p.Asn250fs) rs587778518
NM_005373.2(MPL):c.754T>C (p.Tyr252His) rs141311765
NM_005373.2(MPL):c.79+2T>A rs146249964
NM_005373.2(MPL):c.793C>T (p.Leu265Phe) rs117656396
NM_005373.2(MPL):c.962G>A (p.Arg321Gln) rs149265851
NM_005379.4(MYO1A):c.-11C>T rs560209125
NM_005631.5(SMO):c.1417G>A (p.Asp473Asn) rs17710891
NM_005631.5(SMO):c.1921C>G (p.Pro641Ala) rs146200641
NM_005631.5(SMO):c.1939C>T (p.Pro647Ser) rs34545616
NM_005631.5(SMO):c.2057C>T (p.Ala686Val) rs587778688
NM_005631.5(SMO):c.2060C>T (p.Pro687Leu) rs55722779
NM_005631.5(SMO):c.2093C>G (p.Pro698Arg) rs116640950
NM_005631.5(SMO):c.2177G>A (p.Arg726Gln) rs142495470
NM_005631.5(SMO):c.2227C>A (p.Pro743Thr) rs112783338
NM_005631.5(SMO):c.2314C>T (p.Arg772Cys) rs140172891
NM_005631.5(SMO):c.2344G>A (p.Asp782Asn) rs587778689
NM_005631.5(SMO):c.503G>A (p.Arg168His) rs61746143
NM_005631.5(SMO):c.517C>T (p.Arg173Cys) rs143083812
NM_005631.5(SMO):c.518G>A (p.Arg173His) rs147491841
NM_005631.5(SMO):c.672G>T (p.Glu224Asp) rs148484943
NM_005631.5(SMO):c.808G>A (p.Val270Ile) rs111694017
NM_005631.5(SMO):c.99C>G (p.Ser33Arg) rs587778687
NM_005691.3(ABCC9):c.-11T>C rs72559432
NM_005896.3(IDH1):c.211G>A (p.Val71Ile) rs73070954
NM_005896.3(IDH1):c.532G>A (p.Val178Ile) rs34218846
NM_005896.3(IDH1):c.548A>G (p.Tyr183Cys) rs34599179
NM_005896.3(IDH1):c.565A>G (p.Ile189Val) rs62193615
NM_005896.3(IDH1):c.622T>C (p.Tyr208His) rs587778402
NM_005896.3(IDH1):c.659A>G (p.Asp220Gly) rs142801125
NM_005896.3(IDH1):c.665G>T (p.Arg222Leu) rs587778401
NM_005896.3(IDH1):c.94T>G (p.Phe32Val) rs142923780
NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro) rs367889013
NM_006015.6(ARID1A):c.3524C>T (p.Pro1175Leu) rs145886877
NM_006015.6(ARID1A):c.3967C>T (p.Arg1323Cys) rs587778051
NM_006015.6(ARID1A):c.4304A>G (p.Tyr1435Cys) rs369118235
NM_006015.6(ARID1A):c.4615G>T (p.Ala1539Ser) rs112918204
NM_006015.6(ARID1A):c.5114A>G (p.Asn1705Ser) rs61756316
NM_006015.6(ARID1A):c.5248T>A (p.Phe1750Ile) rs587778053
NM_006015.6(ARID1A):c.5318T>C (p.Leu1773Pro) rs587778054
NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly) rs140946580
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln) rs41303631
NM_006015.6(ARID1A):c.5791G>C (p.Glu1931Gln) rs587778052
NM_006164.5(NFE2L2):c.1106C>T (p.Thr369Ile) rs587778555
NM_006164.5(NFE2L2):c.127C>T (p.Arg43Trp) rs182428269
NM_006164.5(NFE2L2):c.128G>A (p.Arg43Gln) rs35248500
NM_006164.5(NFE2L2):c.1346G>A (p.Arg449His) rs181294188
NM_006164.5(NFE2L2):c.312+11C>T rs114377436
NM_006164.5(NFE2L2):c.402+13A>G rs191231706
NM_006164.5(NFE2L2):c.402+8A>G rs374195236
NM_006164.5(NFE2L2):c.529T>G (p.Leu177Val) rs35577826
NM_006164.5(NFE2L2):c.802G>A (p.Val268Met) rs34154613
NM_006164.5(NFE2L2):c.898C>T (p.Pro300Ser) rs587778556
NM_006164.5(NFE2L2):c.925C>T (p.Leu309Phe) rs141363120
NM_006206.6(PDGFRA):c.1019G>A (p.Arg340Gln) rs77524207
NM_006206.6(PDGFRA):c.1057A>C (p.Asn353His) rs139103850
NM_006206.6(PDGFRA):c.1122G>C (p.Arg374Ser) rs61735622
NM_006206.6(PDGFRA):c.1307C>T (p.Thr436Ile) rs139920579
NM_006206.6(PDGFRA):c.1357A>T (p.Ile453Phe) rs587778603
NM_006206.6(PDGFRA):c.1417A>G (p.Ile473Val) rs587778594
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368
NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala) rs181854060
NM_006206.6(PDGFRA):c.167G>C (p.Ser56Thr) rs587778601
NM_006206.6(PDGFRA):c.1700_1701inv (p.Pro567Leu)
NM_006206.6(PDGFRA):c.2230C>T (p.Pro744Ser) rs61735626
NM_006206.6(PDGFRA):c.2282T>G (p.Leu761Arg) rs148654387
NM_006206.6(PDGFRA):c.2306A>T (p.Lys769Met) rs373061721
NM_006206.6(PDGFRA):c.2323+1120C>T rs2291591
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373
NM_006206.6(PDGFRA):c.2899C>G (p.Leu967Val) rs140943817
NM_006206.6(PDGFRA):c.2935C>T (p.Arg979Cys) rs587778597
NM_006206.6(PDGFRA):c.2936G>A (p.Arg979His) rs587778598
NM_006206.6(PDGFRA):c.2966T>C (p.Ile989Thr) rs587778599
NM_006206.6(PDGFRA):c.46A>T (p.Thr16Ser) rs587778596
NM_006206.6(PDGFRA):c.499G>A (p.Val167Met) rs587778602
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632
NM_006206.6(PDGFRA):c.853A>G (p.Ser285Gly) rs541057765
NM_006206.6(PDGFRA):c.86C>T (p.Ser29Phe) rs587778600
NM_006206.6(PDGFRA):c.97A>T (p.Asn33Tyr) rs200979664
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met) rs2230461
NM_006218.4(PIK3CA):c.1837G>A (p.Gly613Ser) rs3908108
NM_006218.4(PIK3CA):c.1876G>A (p.Asp626Asn) rs3908109
NM_006290.4(TNFAIP3):c.1208T>C (p.Leu403Ser) rs587778715
NM_006290.4(TNFAIP3):c.1232G>A (p.Arg411Gln) rs587778713
NM_006290.4(TNFAIP3):c.1364G>A (p.Gly455Glu) rs587778714
NM_006290.4(TNFAIP3):c.1651C>T (p.Leu551Phe) rs587778712
NM_006290.4(TNFAIP3):c.1771C>G (p.Leu591Val) rs145392420
NM_006290.4(TNFAIP3):c.1811C>G (p.Thr604Arg) rs564646155
NM_006290.4(TNFAIP3):c.2140C>G (p.Pro714Ala) rs369155845
NM_006290.4(TNFAIP3):c.484C>T (p.Arg162Trp) rs587778710
NM_006393.2(NEBL):c.*4T>A rs727504947
NM_007078.3(LDB3):c.896+6669TC[13] rs71019410
NM_007194.4(CHEK2):c.1333T>C (p.Tyr445His) rs587778194
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.731A>G (p.Lys244Arg) rs587778193
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.3(BRCA1):c.1387A>G (p.Lys463Glu) rs1135401844
NM_007294.3(BRCA1):c.1427A>G (p.His476Arg) rs55720177
NM_007294.3(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.3(BRCA1):c.1511G>A (p.Arg504His) rs56272539
NM_007294.3(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122
NM_007294.3(BRCA1):c.1616C>T (p.Thr539Met) rs80357374
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2207A>C (p.Glu736Ala) rs397507196
NM_007294.3(BRCA1):c.2330A>G (p.Tyr777Cys) rs587778116
NM_007294.3(BRCA1):c.2412G>C (p.Gln804His) rs55746541
NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847
NM_007294.3(BRCA1):c.290C>T (p.Thr97Ile) rs431825393
NM_007294.3(BRCA1):c.3022A>G (p.Met1008Val) rs56321129
NM_007294.3(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.3(BRCA1):c.3083G>A (p.Arg1028His) rs80357459
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3277G>T (p.Val1093Phe) rs587778117
NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.3(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.3(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280
NM_007294.3(BRCA1):c.397C>T (p.Arg133Cys) rs80357457
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075
NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.3(BRCA1):c.4600G>A (p.Val1534Met) rs55815649
NM_007294.3(BRCA1):c.466C>G (p.Leu156Val) rs587778115
NM_007294.3(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.3(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920
NM_007294.3(BRCA1):c.5504G>A (p.Arg1835Gln) rs273902776
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.3(BRCA1):c.787G>A (p.Gly263Ser) rs397509318
NM_007294.3(BRCA1):c.824G>A (p.Gly275Asp) rs397509327
NM_012433.3(SF3B1):c.967A>G (p.Ile323Val) rs587778679
NM_014159.6(SETD2):c.1343G>A (p.Arg448Gln) rs564020755
NM_014159.6(SETD2):c.1579A>G (p.Ile527Val) rs373069098
NM_014159.6(SETD2):c.1687A>G (p.Ile563Val) rs587778668
NM_014159.6(SETD2):c.1775C>A (p.Thr592Lys) rs115569620
NM_014159.6(SETD2):c.2155A>G (p.Asn719Asp) rs115859828
NM_014159.6(SETD2):c.2251C>A (p.Pro751Thr) rs115788094
NM_014159.6(SETD2):c.2275A>G (p.Lys759Glu) rs200479097
NM_014159.6(SETD2):c.227G>C (p.Ser76Thr) rs587778670
NM_014159.6(SETD2):c.2283G>A (p.Met761Ile) rs188887061
NM_014159.6(SETD2):c.2297T>C (p.Met766Thr) rs587778675
NM_014159.6(SETD2):c.2302G>C (p.Val768Leu) rs9311404
NM_014159.6(SETD2):c.2450T>C (p.Met817Thr) rs115023083
NM_014159.6(SETD2):c.2543C>T (p.Ala848Val) rs75248784
NM_014159.6(SETD2):c.2575A>T (p.Thr859Ser) rs587778669
NM_014159.6(SETD2):c.2603A>G (p.Asp868Gly) rs201752182
NM_014159.6(SETD2):c.2632G>C (p.Gly878Arg) rs587778671
NM_014159.6(SETD2):c.2704G>C (p.Glu902Gln) rs58906143
NM_014159.6(SETD2):c.2713T>C (p.Ser905Pro) rs587778676
NM_014159.6(SETD2):c.2783C>G (p.Thr928Arg) rs72895708
NM_014159.6(SETD2):c.2794G>A (p.Val932Ile) rs141532143
NM_014159.6(SETD2):c.2824G>A (p.Gly942Arg) rs587778672
NM_014159.6(SETD2):c.3097A>G (p.Thr1033Ala) rs145759179
NM_014159.6(SETD2):c.310C>A (p.Pro104Thr) rs539506462
NM_014159.6(SETD2):c.3131G>A (p.Ser1044Asn) rs587778673
NM_014159.6(SETD2):c.3136A>G (p.Asn1046Asp) rs199890800
NM_014159.6(SETD2):c.3142G>A (p.Glu1048Lys) rs587778674
NM_014159.6(SETD2):c.3229A>G (p.Thr1077Ala) rs114719990
NM_014159.6(SETD2):c.3240G>A (p.Met1080Ile) rs76208147
NM_014159.6(SETD2):c.4193T>C (p.Ile1398Thr) rs145732065
NM_014159.6(SETD2):c.4262T>C (p.Leu1421Pro) rs587778677
NM_014159.6(SETD2):c.4526G>A (p.Arg1509Lys) rs528393799
NM_014159.6(SETD2):c.4839+278C>T rs587777970
NM_014159.6(SETD2):c.4839+332G>T rs587777969
NM_014159.6(SETD2):c.4972T>G (p.Ser1658Ala) rs587778678
NM_014159.6(SETD2):c.5369G>C (p.Arg1790Pro) rs376246790
NM_014159.6(SETD2):c.557C>T (p.Pro186Leu) rs78759480
NM_014159.6(SETD2):c.5633T>C (p.Phe1878Ser) rs587778665
NM_014159.6(SETD2):c.5812G>A (p.Val1938Ile) rs116417406
NM_014159.6(SETD2):c.5885C>T (p.Pro1962Leu) rs4082155
NM_014159.6(SETD2):c.5900G>A (p.Gly1967Asp) rs143991928
NM_014159.6(SETD2):c.5945A>G (p.Asp1982Gly) rs587778664
NM_014159.6(SETD2):c.6269G>A (p.Arg2090Gln) rs149758106
NM_014159.6(SETD2):c.6664C>T (p.Pro2222Ser) rs587778666
NM_014159.6(SETD2):c.7352C>T (p.Ala2451Val) rs587778667
NM_014159.6(SETD2):c.784A>C (p.Ser262Arg) rs544730198
NM_014225.6(PPP2R1A):c.75T>G (p.Val25=) rs587778622
NM_014225.6(PPP2R1A):c.78+113C>T rs41275796
NM_014225.6(PPP2R1A):c.78+30A>C rs79308790
NM_014225.6(PPP2R1A):c.78+62C>G rs575654670
NM_014225.6(PPP2R1A):c.78+82T>G rs114390941
NM_015071.6(ARHGAP26):c.1245delTinsGTGGGG (p.Val416Trpfs) rs587778047
NM_015125.4(CIC):c.1375G>A (p.Gly459Ser) rs141764284
NM_015125.4(CIC):c.1430G>C (p.Gly477Ala) rs201078050
NM_015125.4(CIC):c.1573G>A (p.Gly525Ser) rs150975726
NM_015125.4(CIC):c.1694_1695delinsAA (p.Gly565Glu) rs587778195
NM_015125.4(CIC):c.1909_1911del (p.Lys637del) rs587778196
NM_015125.4(CIC):c.1927G>A (p.Gly643Ser) rs587778199
NM_015125.4(CIC):c.1979C>T (p.Pro660Leu) rs139337301
NM_015125.4(CIC):c.2105A>G (p.Asn702Ser) rs202135824
NM_015125.4(CIC):c.2146C>T (p.Arg716Trp) rs537583557
NM_015125.4(CIC):c.2201C>T (p.Ser734Leu) rs587778197
NM_015125.4(CIC):c.2318C>T (p.Pro773Leu) rs587778198
NM_015125.4(CIC):c.2389G>A (p.Gly797Ser) rs587778200
NM_015125.4(CIC):c.2677C>T (p.Pro893Ser) rs142397024
NM_015125.4(CIC):c.2687C>T (p.Pro896Leu) rs549004026
NM_015125.4(CIC):c.2918C>A (p.Thr973Lys) rs543847978
NM_015125.4(CIC):c.2956C>G (p.Leu986Val) rs143825601
NM_015125.4(CIC):c.3202G>A (p.Gly1068Ser) rs370377701
NM_015125.4(CIC):c.3310T>A (p.Ser1104Thr) rs185048610
NM_015125.4(CIC):c.3485A>C (p.Tyr1162Ser) rs556245581
NM_015125.4(CIC):c.3553G>A (p.Ala1185Thr) rs587778202
NM_015125.4(CIC):c.3602G>A (p.Gly1201Asp) rs587778203
NM_015125.4(CIC):c.3658G>C (p.Glu1220Gln) rs587778204
NM_015125.4(CIC):c.3730C>T (p.Arg1244Trp) rs587778201
NM_015125.4(CIC):c.3829C>T (p.Arg1277Cys) rs587778206
NM_015125.4(CIC):c.3925A>G (p.Ser1309Gly) rs587778205
NM_015125.4(CIC):c.3956C>T (p.Pro1319Leu) rs587778207
NM_015125.4(CIC):c.4487G>A (p.Arg1496His) rs200799936
NM_015125.4(CIC):c.4616C>T (p.Pro1539Leu) rs587778208
NM_015125.4(CIC):c.463A>G (p.Ile155Val) rs199958449
NM_015125.4(CIC):c.551C>T (p.Ser184Phe) rs587778209
NM_015125.4(CIC):c.884C>T (p.Thr295Met) rs141544536
NM_015247.2(CYLD):c.1292G>A (p.Gly431Glu) rs200494719
NM_015247.2(CYLD):c.1933G>A (p.Val645Ile) rs587778223
NM_015247.2(CYLD):c.2041+50C>A rs13338860
NM_015247.2(CYLD):c.2272C>T (p.Arg758Ter) rs121908388
NM_015247.2(CYLD):c.344A>G (p.Asn115Ser) rs587778224
NM_015247.2(CYLD):c.665C>A (p.Thr222Lys) rs587778225
NM_015247.2(CYLD):c.988G>C (p.Gly330Arg) rs587778226
NM_015338.5(ASXL1):c.1388G>A (p.Ser463Asn) rs373486603
NM_015338.5(ASXL1):c.1429G>C (p.Glu477Gln) rs141346625
NM_015338.5(ASXL1):c.1817G>A (p.Arg606Gln) rs587778061
NM_015338.5(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609
NM_015338.5(ASXL1):c.2251G>A (p.Val751Ile) rs6058693
NM_015338.5(ASXL1):c.2395G>T (p.Asp799Tyr) rs143594454
NM_015338.5(ASXL1):c.2444= (p.Pro815=) rs6058694
NM_015338.5(ASXL1):c.2513A>G (p.Lys838Arg) rs35632616
NM_015338.5(ASXL1):c.2957A>G (p.Asn986Ser) rs145132837
NM_015338.5(ASXL1):c.3083C>T (p.Ser1028Leu) rs200702600
NM_015338.5(ASXL1):c.3306G>T (p.Glu1102Asp) rs139115934
NM_015338.5(ASXL1):c.3442C>T (p.Arg1148Cys) rs139435094
NM_015338.5(ASXL1):c.3498C>G (p.Ser1166Arg) rs75887545
NM_015338.5(ASXL1):c.3503G>C (p.Ser1168Thr) rs587778062
NM_015338.5(ASXL1):c.3662C>A (p.Thr1221Lys) rs545612479
NM_015338.5(ASXL1):c.3692C>T (p.Ser1231Phe) rs74638057
NM_015338.5(ASXL1):c.3745A>G (p.Met1249Val) rs146141075
NM_015338.5(ASXL1):c.3761A>G (p.Asn1254Ser) rs587778059
NM_015338.5(ASXL1):c.3817C>T (p.Arg1273Cys) rs587778060
NM_015338.5(ASXL1):c.3889G>A (p.Val1297Ile) rs140137262
NM_015338.5(ASXL1):c.3935C>T (p.Ala1312Val) rs148144203
NM_015338.5(ASXL1):c.3973C>T (p.Leu1325Phe) rs6057581
NM_015338.5(ASXL1):c.4189G>A (p.Gly1397Ser) rs146464648
NM_015338.5(ASXL1):c.4493C>T (p.Thr1498Met) rs150119795
NM_015338.5(ASXL1):c.656G>T (p.Gly219Val) rs587778064
NM_015338.5(ASXL1):c.683C>T (p.Ala228Val) rs587778063
NM_015338.5(ASXL1):c.999G>T (p.Met333Ile) rs587778058
NM_016169.3(SUFU):c.1018G>T (p.Ala340Ser) rs34135067
NM_016169.3(SUFU):c.1022C>T (p.Pro341Leu) rs587778699
NM_016169.3(SUFU):c.1028G>A (p.Arg343His) rs79299301
NM_016169.3(SUFU):c.1045A>G (p.Ser349Gly) rs368178771
NM_016169.3(SUFU):c.1084C>T (p.Arg362Cys) rs36049457
NM_016169.3(SUFU):c.1105G>A (p.Val369Ile) rs149449923
NM_016169.3(SUFU):c.518G>A (p.Arg173Lys) rs587778697
NM_016169.3(SUFU):c.872T>C (p.Ile291Thr) rs587778698
NM_016203.4(PRKAG2):c.*2C>T rs199559205
NM_016507.4(CDK12):c.1579C>A (p.Pro527Thr) rs587778182
NM_016507.4(CDK12):c.1705_1707del (p.Ser569del) rs587778181
NM_016507.4(CDK12):c.1855A>G (p.Ile619Val) rs144501352
NM_016507.4(CDK12):c.1913G>C (p.Gly638Ala) rs587778183
NM_016507.4(CDK12):c.1988G>A (p.Arg663His) rs141353560
NM_016507.4(CDK12):c.2964C>T (p.Phe988=) rs61747413
NM_016507.4(CDK12):c.3391A>G (p.Ile1131Val) rs61747430
NM_016507.4(CDK12):c.3566T>A (p.Leu1189Gln) rs56362165
NM_016507.4(CDK12):c.3569C>G (p.Pro1190Arg) rs587778177
NM_016507.4(CDK12):c.3584C>T (p.Thr1195Met) rs61741615
NM_016507.4(CDK12):c.3824C>T (p.Pro1275Leu) rs34070318
NM_016507.4(CDK12):c.3859T>G (p.Ser1287Ala) rs587778179
NM_016507.4(CDK12):c.3997C>T (p.Arg1333Cys) rs142347393
NM_016507.4(CDK12):c.4276A>G (p.Ser1426Gly) rs587778178
NM_016507.4(CDK12):c.4381G>T (p.Gly1461Cys) rs186043011
NM_016507.4(CDK12):c.4402T>C (p.Tyr1468His) rs587778180
NM_016507.4(CDK12):c.4415A>G (p.Tyr1472Cys) rs373240630
NM_016592.3(GNAS):c.345_356delCGAGTCCGAAAT (p.Ile119_Glu122del) rs587778387
NM_016592.4(GNAS):c.332C>T (p.Thr111Ile) rs587778388
NM_016592.4(GNAS):c.42+12390G>A rs545306394
NM_016592.4(GNAS):c.42+12560G>A rs587778390
NM_016592.4(GNAS):c.42+12575G>A rs200924357
NM_016592.4(GNAS):c.42+12690T>G rs587778386
NM_016592.4(GNAS):c.42+12863A>G rs138731520
NM_016592.4(GNAS):c.42+12879A>G rs61749695
NM_016592.4(GNAS):c.42+13007G>C rs61749696
NM_016592.4(GNAS):c.42+13040G>A rs587778391
NM_016592.4(GNAS):c.42+13057T>G rs201332059
NM_016592.4(GNAS):c.42+13367A>G rs201597085
NM_016592.4(GNAS):c.42+13506C>T rs61749697
NM_016592.4(GNAS):c.42+13514G>C rs587778389
NM_016592.4(GNAS):c.42+13557G>A rs587778385
NM_016592.4(GNAS):c.42+13567_42+13575dup rs577386316
NM_016592.4(GNAS):c.42+13612_42+13638del rs587778382
NM_016592.4(GNAS):c.42+13686C>A rs61749698
NM_016592.4(GNAS):c.42+13755C>G rs148033592
NM_016592.4(GNAS):c.42+13806C>T rs587778383
NM_016592.4(GNAS):c.42+13841G>A rs552813440
NM_016592.4(GNAS):c.42+13917C>T rs587778384
NM_016592.4(GNAS):c.42+14177C>G rs74897360
NM_016592.4(GNAS):c.715C>A (p.Pro239Thr) rs79527543
NM_016599.4(MYOZ2):c.561-14_561-13dup rs112369914
NM_016734.3(PAX5):c.*15C>T rs587777963
NM_016734.3(PAX5):c.1029G>A (p.Gly343=) rs35469494
NM_016734.3(PAX5):c.1110C>T (p.Tyr370=) rs3780135
NM_016734.3(PAX5):c.244G>A (p.Val82Ile) rs587778589
NM_016734.3(PAX5):c.451G>A (p.Val151Ile) rs115889954
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu) rs137870876
NM_016734.3(PAX5):c.6T>A (p.Asp2Glu) rs139701864
NM_016734.3(PAX5):c.857C>T (p.Pro286Leu) rs587778590
NM_016734.3(PAX5):c.964G>A (p.Ala322Thr) rs34810717
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940
NM_017617.5(NOTCH1):c.1702G>A (p.Asp568Asn) rs562413261
NM_017617.5(NOTCH1):c.1754C>T (p.Ala585Val) rs587778557
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His) rs561126575
NM_017617.5(NOTCH1):c.2192G>A (p.Arg731Gln) rs587778558
NM_017617.5(NOTCH1):c.2247C>G (p.Asn749Lys) rs587778560
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) rs587778559
NM_017617.5(NOTCH1):c.2377_2379del (p.Asn793del) rs587778561
NM_017617.5(NOTCH1):c.2473A>G (p.Thr825Ala) rs587778562
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134
NM_017617.5(NOTCH1):c.2635C>T (p.Arg879Trp) rs587778563
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.2981A>G (p.Asn994Ser) rs587778564
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211
NM_017617.5(NOTCH1):c.3192C>G (p.Asp1064Glu) rs587778565
NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser) rs587778566
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val) rs377351349
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg) rs374230681
NM_017617.5(NOTCH1):c.3598G>A (p.Asp1200Asn) rs544640305
NM_017617.5(NOTCH1):c.361A>G (p.Thr121Ala) rs587778570
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys) rs587778567
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600
NM_017617.5(NOTCH1):c.4222G>A (p.Glu1408Lys) rs587778569
NM_017617.5(NOTCH1):c.4276C>T (p.His1426Tyr) rs587778568
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968
NM_017617.5(NOTCH1):c.5015G>A (p.Arg1672His) rs372830543
NM_017617.5(NOTCH1):c.5167+108C>T rs587777960
NM_017617.5(NOTCH1):c.5167+114C>T rs559253584
NM_017617.5(NOTCH1):c.5167+115G>A rs186415498
NM_017617.5(NOTCH1):c.5167+142A>C rs587777959
NM_017617.5(NOTCH1):c.5167+162G>A rs587777958
NM_017617.5(NOTCH1):c.5167+174G>A rs587777957
NM_017617.5(NOTCH1):c.5167+189C>G rs113377894
NM_017617.5(NOTCH1):c.5167+189delCinsGG rs587777956
NM_017617.5(NOTCH1):c.5167+208C>T rs11574905
NM_017617.5(NOTCH1):c.5167+228T>G rs180916492
NM_017617.5(NOTCH1):c.5167+43_5167+44delinsT rs587777961
NM_017617.5(NOTCH1):c.5167+73G>A rs368493777
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His) rs182763411
NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser) rs372698234
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250
NM_017617.5(NOTCH1):c.6536G>A (p.Arg2179Gln) rs587778571
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) rs201613894
NM_017617.5(NOTCH1):c.6769G>A (p.Ala2257Thr) rs587778572
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489
NM_017617.5(NOTCH1):c.6898G>A (p.Gly2300Arg) rs587778573
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) rs202065858
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu) rs375025242
NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys) rs200893930
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met) rs369721921
NM_017628.4(TET2):c.100C>T (p.Leu34Phe) rs111948941
NM_017628.4(TET2):c.1064G>A (p.Gly355Asp) rs61744960
NM_017628.4(TET2):c.1088C>T (p.Pro363Leu) rs17253672
NM_017628.4(TET2):c.1285G>A (p.Gly429Arg) rs201642693
NM_017628.4(TET2):c.1379C>T (p.Ser460Phe) rs376570662
NM_017628.4(TET2):c.1724C>T (p.Ala575Val) rs199640757
NM_017628.4(TET2):c.1745A>G (p.Asn582Ser) rs587778705
NM_017628.4(TET2):c.1819G>A (p.Gly607Arg) rs587778708
NM_017628.4(TET2):c.197T>C (p.Met66Thr) rs587778709
NM_017628.4(TET2):c.2429A>G (p.Gln810Arg) rs28555446
NM_017628.4(TET2):c.2440C>T (p.Arg814Cys) rs192553789
NM_017628.4(TET2):c.2549A>G (p.His850Arg) rs369370690
NM_017628.4(TET2):c.2599T>C (p.Tyr867His) rs144386291
NM_017628.4(TET2):c.2604T>G (p.Phe868Leu) rs147836249
NM_017628.4(TET2):c.2771A>G (p.His924Arg) rs34485921
NM_017628.4(TET2):c.3035C>T (p.Pro1012Leu) rs587778707
NM_017628.4(TET2):c.3116C>T (p.Ser1039Leu) rs111678678
NM_017628.4(TET2):c.3251A>C (p.Gln1084Pro) rs75056899
NM_017628.4(TET2):c.3424T>A (p.Cys1142Ser) rs192879693
NM_017628.4(TET2):c.3427A>G (p.Thr1143Ala) rs144467609
NM_017628.4(TET2):c.3451G>T (p.Glu1151Ter) rs141975400
NM_017628.4(TET2):c.3479G>A (p.Gly1160Glu) rs367758008
NM_017628.4(TET2):c.434G>A (p.Ser145Asn) rs114619974
NM_017628.4(TET2):c.521C>A (p.Pro174His) rs146031219
NM_017628.4(TET2):c.652G>A (p.Val218Met) rs6843141
NM_017628.4(TET2):c.86C>G (p.Pro29Arg) rs12498609
NM_017628.4(TET2):c.899A>G (p.Asp300Gly) rs587778706
NM_017628.4(TET2):c.920T>G (p.Leu307Arg) rs145125867
NM_017628.4(TET2):c.959_961AAC[1] (p.Gln321del) rs587778704
NM_017709.4(TENT5C):c.201C>G (p.His67Gln) rs1630312
NM_017709.4(TENT5C):c.46G>A (p.Val16Met) rs34495780
NM_017709.4(TENT5C):c.773C>T (p.Thr258Ile) rs587778306
NM_017709.4(TENT5C):c.775G>T (p.Asp259Tyr) rs587778308
NM_017709.4(TENT5C):c.841A>G (p.Ile281Val) rs77871185
NM_017709.4(TENT5C):c.889G>A (p.Ala297Thr) rs149654076
NM_017709.4(TENT5C):c.895G>A (p.Glu299Lys) rs145471785
NM_017709.4(TENT5C):c.89C>G (p.Thr30Ser) rs587778307
NM_018313.5(PBRM1):c.1097A>G (p.Tyr366Cys) rs373477703
NM_018313.5(PBRM1):c.1541+2334A>G rs587777964
NM_018313.5(PBRM1):c.2816G>T (p.Gly939Val) rs587778591
NM_018313.5(PBRM1):c.409G>T (p.Ala137Ser) rs587778592
NM_018313.5(PBRM1):c.4535C>T (p.Ala1512Val) rs142726131
NM_018313.5(PBRM1):c.4588G>A (p.Asp1530Asn) rs201397730
NM_018313.5(PBRM1):c.736C>A (p.His246Asn) rs587778593
NM_018313.5(PBRM1):c.998A>G (p.Asn333Ser) rs547790173
NM_018315.5(FBXW7):c.170G>A (p.Ser57Asn) rs537589828
NM_020975.6(RET):c.1049C>T (p.Thr350Ile) rs587778660
NM_020975.6(RET):c.1157C>T (p.Ala386Val) rs115272158
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919
NM_020975.6(RET):c.1424G>A (p.Arg475Gln) rs138624658
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538
NM_020975.6(RET):c.1465G>A (p.Asp489Asn) rs9282834
NM_020975.6(RET):c.1573C>T (p.Arg525Trp) rs545625150
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939
NM_020975.6(RET):c.2261C>T (p.Thr754Met) rs181856591
NM_020975.6(RET):c.2348A>C (p.Asn783Thr) rs587778656
NM_020975.6(RET):c.2432C>G (p.Ser811Cys) rs587778657
NM_020975.6(RET):c.2875C>T (p.Arg959Trp) rs587778658
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.6(RET):c.304G>A (p.Asp102Asn) rs201244749
NM_020975.6(RET):c.3116C>A (p.Pro1039Gln) rs79853121
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) rs587778659
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662
NM_020975.6(RET):c.488G>A (p.Arg163Gln) rs149403911
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185
NM_021922.2(FANCE):c.1018G>C (p.Gly340Arg) rs45524646
NM_021922.2(FANCE):c.1028G>A (p.Arg343Gln) rs45467798
NM_021922.2(FANCE):c.1058C>T (p.Pro353Leu) rs587778339
NM_021922.2(FANCE):c.1074dup (p.Asn359fs) rs587778338
NM_021922.2(FANCE):c.1095A>C (p.Arg365Ser) rs141268133
NM_021922.2(FANCE):c.1141C>T (p.Arg381Cys) rs371020401
NM_021922.2(FANCE):c.1333C>T (p.Pro445Ser) rs141551053
NM_021922.2(FANCE):c.1504G>A (p.Ala502Thr) rs9462088
NM_021922.2(FANCE):c.1509C>T (p.Asn503=) rs147166240
NM_021922.2(FANCE):c.229C>A (p.Pro77Thr) rs587778335
NM_021922.2(FANCE):c.266G>T (p.Arg89Leu) rs45600543
NM_021922.2(FANCE):c.52C>T (p.Pro18Ser) rs552241929
NM_021922.2(FANCE):c.611C>T (p.Ser204Leu) rs7761870
NM_021922.2(FANCE):c.929C>A (p.Pro310Gln) rs139600847
NM_021922.2(FANCE):c.929del (p.Pro310fs) rs587778337
NM_021922.2(FANCE):c.94G>A (p.Ala32Thr) rs587778336
NM_022124.6(CDH23):c.1449+148_1449+149del rs727502921
NM_022148.4(CRLF2):c.190G>A (p.Gly64Ser) rs587778219
NM_022148.4(CRLF2):c.269A>G (p.Gln90Arg) rs587778218
NM_022148.4(CRLF2):c.406G>A (p.Val136Met) rs138899368
NM_022148.4(CRLF2):c.637G>A (p.Glu213Lys) rs200254974
NM_022148.4(CRLF2):c.730G>A (p.Val244Met) rs151218732
NM_022552.4(DNMT3A):c.131C>T (p.Thr44Met) rs199643287
NM_022552.4(DNMT3A):c.1502A>G (p.Asn501Ser) rs149738328
NM_022552.4(DNMT3A):c.645G>C (p.Glu215Asp) rs587778238
NM_022552.4(DNMT3A):c.802G>A (p.Asp268Asn) rs587778237
NM_022552.4(DNMT3A):c.89A>C (p.Glu30Ala) rs143730975
NM_022725.3(FANCF):c.1041G>T (p.Trp347Cys) rs587778343
NM_022725.3(FANCF):c.153T>A (p.His51Gln) rs142247452
NM_022725.3(FANCF):c.179G>A (p.Arg60Gln) rs587778344
NM_022725.3(FANCF):c.256C>T (p.Leu86Phe) rs587778341
NM_022725.3(FANCF):c.373G>A (p.Asp125Asn) rs61752920
NM_022725.3(FANCF):c.385C>G (p.Leu129Val) rs61753271
NM_022725.3(FANCF):c.480_481CT[2] (p.Leu162fs) rs587778340
NM_022725.3(FANCF):c.557C>T (p.Ala186Val) rs113910234
NM_022725.3(FANCF):c.728G>A (p.Gly243Glu) rs150216454
NM_022725.3(FANCF):c.955C>T (p.Pro319Ser) rs587778342
NM_022725.3(FANCF):c.959C>T (p.Pro320Leu) rs45451294
NM_023067.4(FOXL2):c.1045C>G (p.Arg349Gly) rs201840174
NM_024408.4(NOTCH2):c.1396C>A (p.Gln466Lys) rs141935585
NM_024408.4(NOTCH2):c.1517A>G (p.Asn506Ser) rs73004269
NM_024408.4(NOTCH2):c.2042T>A (p.Ile681Asn) rs74882029
NM_024408.4(NOTCH2):c.2479+149C>G rs782240220
NM_024408.4(NOTCH2):c.2479+225A>G rs782788145
NM_024408.4(NOTCH2):c.2479+34G>A rs368529597
NM_024408.4(NOTCH2):c.2573C>G (p.Thr858Ser) rs782631431
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val) rs35656321
NM_024408.4(NOTCH2):c.3143G>A (p.Arg1048His) rs142831890
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser) rs782078365
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770
NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr) rs797044475
NM_024408.4(NOTCH2):c.3779G>A (p.Arg1260His) rs75423398
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484
NM_024408.4(NOTCH2):c.3995G>A (p.Arg1332His) rs587609362
NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp) rs587778575
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282
NM_024408.4(NOTCH2):c.4820G>A (p.Arg1607His) rs372710038
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.5065A>T (p.Ile1689Phe) rs60854092
NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr) rs115013051
NM_024408.4(NOTCH2):c.5314G>A (p.Glu1772Lys) rs587778576
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342
NM_024408.4(NOTCH2):c.6974A>G (p.Gln2325Arg) rs587778577
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala) rs587778578
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573
NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly) rs143197714
NM_024408.4(NOTCH2):c.7209T>A (p.Ser2403Arg) rs587778579
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704
NM_024422.6(DSC2):c.-222C>A rs727505136
NM_024422.6(DSC2):c.-243_-234del rs552918051
NM_024422.6(DSC2):c.-298C>T rs149977713
NM_024422.6(DSC2):c.-302C>T rs727504919
NM_024422.6(DSC2):c.-408T>C rs188926948
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg) rs142059681
NM_024426.6(WT1):c.1092C>A (p.His364Gln) rs587778756
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln) rs147241955
NM_024426.6(WT1):c.1304G>A (p.Arg435Gln) rs144788858
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584
NM_024529.4(CDC73):c.1149C>A (p.Asp383Glu) rs587778167
NM_024529.4(CDC73):c.412C>A (p.Pro138Thr) rs369542555
NM_024529.4(CDC73):c.588_590delinsGAA (p.Ile197Asn) rs587778168
NM_024675.3(PALB2):c.1010T>C (p.Leu337Ser) rs45494092
NM_024675.3(PALB2):c.1676A>G (p.Gln559Arg) rs152451
NM_024675.3(PALB2):c.1882_1890del (p.Lys628_Cys630del) rs587778583
NM_024675.3(PALB2):c.194C>T (p.Pro65Leu) rs62625272
NM_024675.3(PALB2):c.2006del (p.Glu669fs) rs587778584
NM_024675.3(PALB2):c.2014G>C (p.Glu672Gln) rs45532440
NM_024675.3(PALB2):c.2258G>A (p.Arg753Gln) rs587778586
NM_024675.3(PALB2):c.2456A>G (p.Lys819Arg) rs587778585
NM_024675.3(PALB2):c.2509G>A (p.Glu837Lys) rs587778587
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_024675.3(PALB2):c.2846G>A (p.Cys949Tyr) rs587778588
NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro) rs149522412
NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) rs45551636
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_024675.3(PALB2):c.629C>T (p.Pro210Leu) rs57605939
NM_024675.3(PALB2):c.721A>G (p.Asn241Asp) rs113217267
NM_024675.3(PALB2):c.833_834delinsAT (p.Leu278His) rs587778582
NM_024675.3(PALB2):c.899C>T (p.Thr300Ile) rs528541334
NM_024675.3(PALB2):c.925A>G (p.Ile309Val) rs3809683
NM_024675.3(PALB2):c.94C>G (p.Leu32Val) rs151316635
NM_025133.4(FBXO11):c.124A>T (p.Thr42Ser) rs17036993
NM_025133.4(FBXO11):c.127A>G (p.Thr43Ala) rs587778349
NM_025133.4(FBXO11):c.1975+50_1975+52del rs587777947
NM_025133.4(FBXO11):c.1975+68del rs551275428
NM_025133.4(FBXO11):c.2239A>G (p.Ser747Gly) rs200771165
NM_030917.4(FIP1L1):c.101A>G (p.His34Arg) rs587778364
NM_030917.4(FIP1L1):c.695A>G (p.Asn232Ser) rs151072018
NM_030917.4(FIP1L1):c.784T>C (p.Ser262Pro) rs587778363
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) rs45501097
NM_032043.2(BRIP1):c.1586G>A (p.Gly529Glu) rs138784299
NM_032043.2(BRIP1):c.1727A>G (p.Asn576Ser) rs587778132
NM_032043.2(BRIP1):c.1727dup (p.Asn576fs) rs587778131
NM_032043.2(BRIP1):c.1742G>A (p.Arg581Gln) rs587778133
NM_032043.2(BRIP1):c.2012A>G (p.Glu671Gly) rs587778135
NM_032043.2(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) rs111536363
NM_032043.2(BRIP1):c.2284C>T (p.Arg762Cys) rs587778136
NM_032043.2(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955
NM_032043.2(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.2804T>G (p.Val935Gly) rs4988356
NM_032043.2(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573
NM_032043.2(BRIP1):c.3701T>G (p.Phe1234Cys) rs587778137
NM_032043.2(BRIP1):c.430G>A (p.Ala144Thr) rs116952709
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.577G>A (p.Val193Ile) rs4988346
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) rs4988347
NM_032043.2(BRIP1):c.790C>T (p.Arg264Trp) rs28997569
NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) rs28997570
NM_032043.2(BRIP1):c.932del (p.Tyr311fs) rs587778138
NM_032043.2(BRIP1):c.964C>T (p.Gln322Ter) rs587778139
NM_032335.3(PHF6):c.490C>T (p.Arg164Cys) rs199945885
NM_032335.3(PHF6):c.530C>T (p.Ser177Leu) rs587778604
NM_032415.6(CARD11):c.1262T>C (p.Met421Thr) rs372864426
NM_032415.6(CARD11):c.1581C>A (p.His527Gln) rs74876622
NM_032415.6(CARD11):c.1590A>C (p.Glu530Asp) rs41515445
NM_032415.6(CARD11):c.1595C>T (p.Thr532Met) rs201780608
NM_032415.6(CARD11):c.1610G>C (p.Ser537Thr) rs148753096
NM_032415.6(CARD11):c.1630A>C (p.Ile544Leu) rs147687933
NM_032415.6(CARD11):c.1741G>A (p.Ala581Thr) rs75403455
NM_032415.6(CARD11):c.1823G>A (p.Arg608His) rs587778150
NM_032415.6(CARD11):c.1975G>A (p.Val659Met) rs78443994
NM_032415.6(CARD11):c.2060C>T (p.Ala687Val) rs41493047
NM_032415.6(CARD11):c.2074G>A (p.Val692Met) rs587778151
NM_032415.6(CARD11):c.2119C>T (p.Arg707Cys) rs143049136
NM_032415.6(CARD11):c.2120G>A (p.Arg707His) rs201948130
NM_032415.6(CARD11):c.2242A>G (p.Thr748Ala) rs376122142
NM_032415.6(CARD11):c.2298G>T (p.Glu766Asp) rs534947493
NM_032415.6(CARD11):c.2395G>A (p.Asp799Asn) rs587778152
NM_032415.6(CARD11):c.2641A>G (p.Ser881Gly) rs140097633
NM_032415.6(CARD11):c.3025G>A (p.Val1009Ile) rs147381531
NM_032415.6(CARD11):c.3059C>T (p.Thr1020Met) rs116583746
NM_032415.6(CARD11):c.3139G>A (p.Ala1047Thr) rs146334064
NM_032415.6(CARD11):c.3454G>A (p.Asp1152Asn) rs147422861
NM_032415.6(CARD11):c.572A>G (p.Asn191Ser) rs147264763
NM_032415.6(CARD11):c.590T>C (p.Val197Ala) rs587778153
NM_032638.4(GATA2):c.371C>A (p.Thr124Lys) rs569301892
NM_032638.4(GATA2):c.481C>G (p.Pro161Ala) rs34799090
NM_032638.4(GATA2):c.490G>A (p.Ala164Thr) rs2335052
NM_032638.4(GATA2):c.748C>G (p.Pro250Ala) rs78245253
NM_032638.4(GATA2):c.787G>A (p.Gly263Arg) rs587778378
NM_033056.4(PCDH15):c.5358C>A (p.Ile1786=) rs727503361
NM_033084.5(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247
NM_033084.5(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204
NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071
NM_033084.5(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315
NM_033084.5(FANCD2):c.195G>C (p.Gln65His) rs36084488
NM_033084.5(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017
NM_033084.5(FANCD2):c.2555C>T (p.Pro852Leu) rs375827113
NM_033084.5(FANCD2):c.2567C>G (p.Thr856Ser) rs587778329
NM_033084.5(FANCD2):c.2702G>T (p.Gly901Val) rs35495399
NM_033084.5(FANCD2):c.2965C>G (p.Pro989Ala) rs200568638
NM_033084.5(FANCD2):c.2989C>T (p.Arg997Trp) rs587778330
NM_033084.5(FANCD2):c.2990G>A (p.Arg997Gln) rs587778331
NM_033084.5(FANCD2):c.3400C>T (p.Leu1134Phe) rs587778332
NM_033084.5(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860
NM_033084.5(FANCD2):c.3808A>G (p.Met1270Val) rs587778333
NM_033084.5(FANCD2):c.4396C>A (p.Pro1466Thr) rs78896323
NM_033084.5(FANCD2):c.516A>G (p.Ile172Met) rs35173688
NM_033084.5(FANCD2):c.577A>G (p.Thr193Ala) rs34936017
NM_033084.5(FANCD2):c.983G>A (p.Arg328Gln) rs35625434
NM_033337.2(CAV3):c.-15C>A rs569240109
NM_033360.4(KRAS):c.535G>A (p.Gly179Ser) rs200970347
NM_033360.4(KRAS):c.565A>C (p.Met189Leu) rs201170656
NM_138691.2(TMC1):c.*15G>A rs727503489
NM_138691.2(TMC1):c.*1T>A rs727503488
NM_144612.6(LOXHD1):c.512-19TC[3] rs876657676
NM_144672.4(OTOA):c.981-147A>G rs727505172
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln) rs190786280
NM_144997.7(FLCN):c.1198G>A (p.Val400Ile) rs148257120
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu) rs199889477
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly) rs556510460
NM_144997.7(FLCN):c.202A>G (p.Ser68Gly) rs587778365
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415
NM_144997.7(FLCN):c.396+55G>T rs587777930
NM_144997.7(FLCN):c.396+59T>C rs41525346
NM_144997.7(FLCN):c.502C>T (p.Arg168Cys) rs587778367
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn) rs200168437
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) rs78683075
NM_144997.7(FLCN):c.871+100C>T rs587778368
NM_144997.7(FLCN):c.871+121C>T rs149863088
NM_144997.7(FLCN):c.871+16T>A rs116643153
NM_144997.7(FLCN):c.871+36G>A rs3744124
NM_144997.7(FLCN):c.871+47G>A rs142934950
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln) rs143483053
NM_144997.7(FLCN):c.95G>A (p.Gly32Glu) rs587778366
NM_152424.4(AMER1):c.1145_1153AAGAAGAGG[1] (p.Glu385_Glu387del) rs587778022
NM_152424.4(AMER1):c.1721G>A (p.Arg574Gln) rs587778025
NM_152424.4(AMER1):c.1796A>G (p.Tyr599Cys) rs144896730
NM_152424.4(AMER1):c.1811A>G (p.Tyr604Cys) rs587778023
NM_152424.4(AMER1):c.185G>T (p.Gly62Val) rs147040794
NM_152424.4(AMER1):c.1873A>G (p.Thr625Ala) rs142654101
NM_152424.4(AMER1):c.1951G>A (p.Val651Ile) rs587778026
NM_152424.4(AMER1):c.2015G>A (p.Gly672Glu) rs587778027
NM_152424.4(AMER1):c.2157G>A (p.Met719Ile) rs142355260
NM_152424.4(AMER1):c.2651C>T (p.Pro884Leu) rs201092215
NM_152424.4(AMER1):c.3127A>G (p.Ser1043Gly) rs373315882
NM_152424.4(AMER1):c.3271C>T (p.Arg1091Trp) rs375850061
NM_152424.4(AMER1):c.477T>G (p.Phe159Leu) rs34677493
NM_152424.4(AMER1):c.790G>A (p.Ala264Thr) rs150929706
NM_152424.4(AMER1):c.832G>T (p.Ala278Ser) rs35718712
NM_152424.4(AMER1):c.835A>G (p.Ser279Gly) rs587778024
NM_152424.4(AMER1):c.85G>A (p.Ala29Thr) rs138399473
NM_152424.4(AMER1):c.876G>C (p.Lys292Asn) rs138948924
NM_152424.4(AMER1):c.908G>A (p.Gly303Asp) rs200552684
NM_152641.4(ARID2):c.1472C>G (p.Thr491Ser) rs149755754
NM_152641.4(ARID2):c.1759A>G (p.Ser587Gly) rs78128744
NM_152641.4(ARID2):c.1808C>T (p.Ala603Val) rs144928351
NM_152641.4(ARID2):c.227T>G (p.Phe76Cys) rs587778057
NM_152641.4(ARID2):c.2428G>C (p.Ala810Pro) rs74916892
NM_152641.4(ARID2):c.2579A>G (p.Asn860Ser) rs147193304
NM_152641.4(ARID2):c.2764A>G (p.Thr922Ala) rs114470162
NM_152641.4(ARID2):c.28C>A (p.Pro10Thr) rs560068535
NM_152641.4(ARID2):c.292G>A (p.Glu98Lys) rs140285438
NM_152641.4(ARID2):c.3068C>T (p.Pro1023Leu) rs577713771
NM_152641.4(ARID2):c.3118G>A (p.Val1040Ile) rs587778055
NM_152641.4(ARID2):c.4223A>G (p.Lys1408Arg) rs374602869
NM_152641.4(ARID2):c.4300G>T (p.Ala1434Ser) rs150136669
NM_152641.4(ARID2):c.4438G>C (p.Gly1480Arg) rs587778056
NM_152641.4(ARID2):c.4492G>A (p.Ala1498Thr) rs116531573
NM_152641.4(ARID2):c.4510C>T (p.Arg1504Trp) rs140500006
NM_152641.4(ARID2):c.4705G>A (p.Ala1569Thr) rs78712333
NM_152641.4(ARID2):c.4945G>C (p.Val1649Leu) rs201268655
NM_170606.3(KMT2C):c.10024G>T (p.Ala3342Ser) rs144376311
NM_170606.3(KMT2C):c.10163A>G (p.Asn3388Ser) rs200302468
NM_170606.3(KMT2C):c.10403C>T (p.Pro3468Leu) rs565114967
NM_170606.3(KMT2C):c.10432C>G (p.Gln3478Glu) rs142835638
NM_170606.3(KMT2C):c.10444G>A (p.Val3482Ile) rs587778505
NM_170606.3(KMT2C):c.10513A>G (p.Asn3505Asp) rs140626076
NM_170606.3(KMT2C):c.10639T>C (p.Ser3547Pro) rs78004519
NM_170606.3(KMT2C):c.10723A>G (p.Thr3575Ala) rs142997680
NM_170606.3(KMT2C):c.10763C>T (p.Ser3588Leu) rs148585727
NM_170606.3(KMT2C):c.10894C>T (p.Pro3632Ser) rs587778503
NM_170606.3(KMT2C):c.10928C>T (p.Thr3643Ile) rs587778504
NM_170606.3(KMT2C):c.10979C>T (p.Ser3660Leu) rs74483926
NM_170606.3(KMT2C):c.11149G>C (p.Glu3717Gln) rs587778506
NM_170606.3(KMT2C):c.11167G>C (p.Ala3723Pro) rs115580901
NM_170606.3(KMT2C):c.11173A>C (p.Thr3725Pro) rs143269206
NM_170606.3(KMT2C):c.11242G>A (p.Ala3748Thr) rs148366561
NM_170606.3(KMT2C):c.11374C>A (p.Gln3792Lys) rs75191113
NM_170606.3(KMT2C):c.11493T>G (p.Phe3831Leu) rs587778507
NM_170606.3(KMT2C):c.11528G>C (p.Gly3843Ala) rs201952980
NM_170606.3(KMT2C):c.11570C>T (p.Thr3857Met) rs577099359
NM_170606.3(KMT2C):c.11581G>A (p.Ala3861Thr) rs147946863
NM_170606.3(KMT2C):c.11614G>A (p.Glu3872Lys) rs201674711
NM_170606.3(KMT2C):c.11942A>C (p.Asn3981Thr) rs587778508
NM_170606.3(KMT2C):c.12370A>G (p.Met4124Val) rs587778509
NM_170606.3(KMT2C):c.12655C>G (p.Leu4219Val) rs139111507
NM_170606.3(KMT2C):c.12755C>T (p.Ala4252Val) rs537579296
NM_170606.3(KMT2C):c.12964C>T (p.Pro4322Ser) rs587778511
NM_170606.3(KMT2C):c.13246C>T (p.Pro4416Ser) rs201443050
NM_170606.3(KMT2C):c.1344G>T (p.Gln448His) rs149250254
NM_170606.3(KMT2C):c.13522C>T (p.Pro4508Ser) rs182572555
NM_170606.3(KMT2C):c.1365A>G (p.Ile455Met) rs77652527
NM_170606.3(KMT2C):c.13967C>A (p.Ala4656Glu) rs587778512
NM_170606.3(KMT2C):c.14017C>T (p.Arg4673Cys) rs370620314
NM_170606.3(KMT2C):c.1402C>A (p.Pro468Thr) rs140919432
NM_170606.3(KMT2C):c.14107G>A (p.Val4703Ile) rs369684496
NM_170606.3(KMT2C):c.1421_1423ATC[1] (p.His475del) rs587778488
NM_170606.3(KMT2C):c.1577G>A (p.Arg526His) rs3735156
NM_170606.3(KMT2C):c.1577G>C (p.Arg526Pro) rs3735156
NM_170606.3(KMT2C):c.1645G>A (p.Glu549Lys) rs587778489
NM_170606.3(KMT2C):c.1700A>G (p.Asn567Ser) rs12674022
NM_170606.3(KMT2C):c.1795G>T (p.Asp599Tyr) rs141579002
NM_170606.3(KMT2C):c.181A>G (p.Thr61Ala) rs111826855
NM_170606.3(KMT2C):c.3275G>A (p.Arg1092Gln) rs150747860
NM_170606.3(KMT2C):c.3487G>C (p.Val1163Leu) rs142546291
NM_170606.3(KMT2C):c.3955G>C (p.Asp1319His) rs138119145
NM_170606.3(KMT2C):c.4154A>G (p.Asn1385Ser) rs61730535
NM_170606.3(KMT2C):c.4442G>A (p.Arg1481Gln) rs587778490
NM_170606.3(KMT2C):c.4592C>T (p.Ala1531Val) rs587778491
NM_170606.3(KMT2C):c.5171G>T (p.Ser1724Ile) rs138819584
NM_170606.3(KMT2C):c.5352_5354ACA[3] (p.Gln1787dup) rs587778492
NM_170606.3(KMT2C):c.5587C>G (p.Pro1863Ala) rs142070663
NM_170606.3(KMT2C):c.5792C>T (p.Ser1931Leu) rs200297010
NM_170606.3(KMT2C):c.5809C>G (p.Gln1937Glu) rs374061571
NM_170606.3(KMT2C):c.5861C>G (p.Ser1954Cys) rs563948892
NM_170606.3(KMT2C):c.5903A>G (p.Asp1968Gly) rs587778493
NM_170606.3(KMT2C):c.6008C>T (p.Thr2003Ile) rs587778495
NM_170606.3(KMT2C):c.6022A>G (p.Thr2008Ala) rs6951159
NM_170606.3(KMT2C):c.6073T>A (p.Ser2025Thr) rs141338021
NM_170606.3(KMT2C):c.6197G>A (p.Arg2066Gln) rs587778498
NM_170606.3(KMT2C):c.6275A>T (p.Asp2092Val) rs140719911
NM_170606.3(KMT2C):c.6461C>G (p.Ser2154Cys) rs587778496
NM_170606.3(KMT2C):c.6634C>G (p.Pro2212Ala) rs587778497
NM_170606.3(KMT2C):c.6667G>A (p.Ala2223Thr) rs140432708
NM_170606.3(KMT2C):c.6896A>G (p.Tyr2299Cys) rs587778494
NM_170606.3(KMT2C):c.6965T>C (p.Val2322Ala) rs373237480
NM_170606.3(KMT2C):c.709A>G (p.Ile237Val) rs587778510
NM_170606.3(KMT2C):c.7234C>A (p.Pro2412Thr) rs13231116
NM_170606.3(KMT2C):c.7259T>G (p.Leu2420Arg) rs200810583
NM_170606.3(KMT2C):c.7829G>A (p.Arg2610Gln) rs139770288
NM_170606.3(KMT2C):c.7846C>T (p.Pro2616Ser) rs142938767
NM_170606.3(KMT2C):c.7957C>G (p.Leu2653Val) rs149373512
NM_170606.3(KMT2C):c.7958T>C (p.Leu2653Pro) rs61730547
NM_170606.3(KMT2C):c.8449A>G (p.Thr2817Ala) rs587778499
NM_170606.3(KMT2C):c.8459A>G (p.Asn2820Ser) rs587778500
NM_170606.3(KMT2C):c.8488A>C (p.Asn2830His) rs147851738
NM_170606.3(KMT2C):c.8502A>T (p.Glu2834Asp) rs138845109
NM_170606.3(KMT2C):c.8507A>G (p.Lys2836Arg) rs142267328
NM_170606.3(KMT2C):c.8552C>G (p.Thr2851Ser) rs151261105
NM_170606.3(KMT2C):c.9071G>C (p.Ser3024Thr) rs587778501
NM_170606.3(KMT2C):c.9245C>T (p.Pro3082Leu) rs61730545
NM_170606.3(KMT2C):c.9425A>G (p.Gln3142Arg) rs587778502
NM_170606.3(KMT2C):c.9931C>T (p.Leu3311Phe) rs139610952
NM_170606.3(KMT2C):c.9974G>T (p.Ser3325Ile) rs202148187
NM_170606.3(KMT2C):c.9989C>G (p.Pro3330Arg) rs545625106
NM_170662.5(CBLB):c.-14-1G>T rs55944080
NM_170662.5(CBLB):c.1193C>T (p.Thr398Met) rs568168857
NM_170662.5(CBLB):c.1304G>A (p.Cys435Tyr) rs116474782
NM_170662.5(CBLB):c.1378A>G (p.Met460Val) rs114461789
NM_170662.5(CBLB):c.1396A>G (p.Asn466Asp) rs61758360
NM_170662.5(CBLB):c.1670C>T (p.Pro557Leu) rs148064625
NM_170662.5(CBLB):c.1860_1862dup (p.Ala621dup) rs587778163
NM_170662.5(CBLB):c.1865G>C (p.Ser622Thr) rs41302192
NM_170662.5(CBLB):c.1913T>C (p.Leu638Pro) rs587778164
NM_170662.5(CBLB):c.1934A>G (p.His645Arg) rs41311396
NM_170662.5(CBLB):c.2647A>G (p.Asn883Asp) rs35835913
NM_170662.5(CBLB):c.2702C>G (p.Ala901Gly) rs55821768
NM_170662.5(CBLB):c.2881G>A (p.Glu961Lys) rs561530977
NM_170662.5(CBLB):c.743G>A (p.Arg248Gln) rs560042700
NM_170662.5(CBLB):c.821A>C (p.Gln274Pro) rs587778165
NM_170707.4(LMNA):c.1698+25C>T rs727504435
NM_177438.2(DICER1):c.1013A>C (p.Glu338Ala) rs587778232
NM_177438.2(DICER1):c.179C>T (p.Thr60Ile) rs587778228
NM_177438.2(DICER1):c.1825G>T (p.Asp609Tyr) rs114947750
NM_177438.2(DICER1):c.20A>G (p.Gln7Arg) rs117358479
NM_177438.2(DICER1):c.2557A>G (p.Ile853Val) rs61729795
NM_177438.2(DICER1):c.2614G>A (p.Ala872Thr) rs149242330
NM_177438.2(DICER1):c.3334A>G (p.Asn1112Asp) rs587778229
NM_177438.2(DICER1):c.3553G>A (p.Ala1185Thr) rs150514959
NM_177438.2(DICER1):c.4254_4256GGA[2] (p.Glu1420del) rs544960260
NM_177438.2(DICER1):c.4795C>T (p.Arg1599Trp) rs587778230
NM_177438.2(DICER1):c.4923T>G (p.Cys1641Trp) rs587778231
NM_177438.2(DICER1):c.5095+13C>T rs116247322
NM_177438.2(DICER1):c.5276A>G (p.Lys1759Arg) rs144259142
NM_177438.2(DICER1):c.5516G>A (p.Arg1839Gln) rs587778233
NM_177438.2(DICER1):c.56C>T (p.Pro19Leu) rs587778227
NM_177438.2(DICER1):c.59C>T (p.Ala20Val) rs147660793
NM_181523.3(PIK3R1):c.526A>G (p.Met176Val) rs200820769
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089
NM_194248.3(OTOF):c.*10_*12CCT[1] rs779197916
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198999.3(SLC26A5):c.1457A>G (p.Tyr486Cys) rs727503433
NM_206933.3(USH2A):c.*4A>G rs530405236
NM_213569.2(NEBL):c.70-5_70-4insT rs11413698
NR_029615.1(MIR183):n.105C>A rs563046665
Single allele rs182017009

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