ClinVar Miner

List of variants reported as likely benign for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2005
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HGVS dbSNP
NM_000059.3(BRCA2):c.*172G>A rs574944914
NM_000059.3(BRCA2):c.*248T>C rs542356535
NM_000059.3(BRCA2):c.*295C>G rs11571834
NM_000059.3(BRCA2):c.*382A>G rs559790882
NM_000059.3(BRCA2):c.*390A>G rs56003538
NM_000059.3(BRCA2):c.*397C>A rs11571835
NM_000059.3(BRCA2):c.*753C>T rs190094748
NM_000059.3(BRCA2):c.*839T>C rs76358429
NM_000059.3(BRCA2):c.*841A>G rs186619625
NM_000059.3(BRCA2):c.*842A>G rs192347116
NM_000059.3(BRCA2):c.*854T>C rs572993583
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-175C>T rs55880202
NM_000059.3(BRCA2):c.-59_-57delGAA rs545321666
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.3(BRCA2):c.1909+9_1909+10delGT rs527732001
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.198A>G (p.Gln66=) rs28897700
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.3(BRCA2):c.2550A>G (p.Gln850=) rs80359785
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.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
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.5986G>A (p.Ala1996Thr) rs80358833
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.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
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.68-7T>A rs81002830
NM_000059.3(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.3(BRCA2):c.6921A>G (p.Ser2307=) rs181183366
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
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.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.9106C>G (p.Gln3036Glu) rs202155613
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
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.9875C>T (p.Pro3292Leu) rs56121817
NM_000063.6(C2):c.*304A>G rs72842444
NM_000063.6(C2):c.1360+1G>A rs140225293
NM_000063.6(C2):c.1414G>A (p.Ala472Thr) rs142243595
NM_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012
NM_000063.6(C2):c.1529G>A (p.Arg510His) rs45476300
NM_000063.6(C2):c.1778G>A (p.Arg593Gln) rs150878060
NM_000063.6(C2):c.1835G>A (p.Ser612Asn) rs573509224
NM_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133
NM_000063.6(C2):c.2046A>G (p.Ala682=) rs45507391
NM_000063.6(C2):c.2080-8T>C rs201806170
NM_000064.4(C3):c.-28C>G rs339394
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000064.4(C3):c.1042A>G (p.Ile348Val) rs141737564
NM_000064.4(C3):c.1119+14C>T rs374368486
NM_000064.4(C3):c.1119+15G>A rs114252882
NM_000064.4(C3):c.1303G>A (p.Glu435Lys) rs774826179
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422
NM_000064.4(C3):c.1623C>T (p.Ser541=) rs202078483
NM_000064.4(C3):c.1653G>T (p.Val551=) rs344534
NM_000064.4(C3):c.1855G>A (p.Val619Met) rs146613648
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231
NM_000064.4(C3):c.1898A>G (p.Lys633Arg) rs140655115
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257
NM_000064.4(C3):c.2184C>T (p.Cys728=) rs200258941
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) rs117793540
NM_000064.4(C3):c.2245+15G>A rs11569434
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657
NM_000064.4(C3):c.2799G>A (p.Pro933=) rs149209011
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534
NM_000064.4(C3):c.3993A>G (p.Thr1331=) rs202210310
NM_000064.4(C3):c.4030-4C>T rs372612816
NM_000064.4(C3):c.4457-5C>T rs344554
NM_000064.4(C3):c.4631-9C>T rs116302413
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000064.4(C3):c.4767G>A (p.Lys1589=) rs144589541
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726
NM_000064.4(C3):c.600-14C>T rs3745558
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571
NM_000064.4(C3):c.774-4G>A rs368095422
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200
NM_000096.4(CP):c.*1157C>T rs11537809
NM_000096.4(CP):c.*137C>T rs34228141
NM_000096.4(CP):c.*768T>C rs35805816
NM_000096.4(CP):c.*879A>C rs144029944
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984
NM_000096.4(CP):c.1209-15T>A rs35465173
NM_000096.4(CP):c.1293C>T (p.Ala431=) rs758930665
NM_000096.4(CP):c.1349-13T>C rs17847017
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000096.4(CP):c.1680C>T (p.Cys560=) rs1553761342
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709
NM_000096.4(CP):c.2286-12T>G rs183671127
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.249T>C (p.Thr83=) rs138512757
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.4(CP):c.3182-4A>G rs34272112
NM_000096.4(CP):c.782-14C>T rs34067682
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025
NM_000135.2(FANCA):c.2505-10_2505-9delCT rs766900188
NM_000135.2(FANCA):c.2602-9_2602-8delCT rs577636020
NM_000135.4(FANCA):c.*1011C>T rs17227452
NM_000135.4(FANCA):c.*252G>C rs17233797
NM_000135.4(FANCA):c.*286C>T rs17233804
NM_000135.4(FANCA):c.*287G>A rs17227417
NM_000135.4(FANCA):c.*385C>G rs17227424
NM_000135.4(FANCA):c.*672del rs66471129
NM_000135.4(FANCA):c.*679T>G rs17233833
NM_000135.4(FANCA):c.*679del rs375657470
NM_000135.4(FANCA):c.*986G>A rs16966023
NM_000135.4(FANCA):c.1143G>A (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091
NM_000135.4(FANCA):c.1194C>T (p.Val398=) rs1158857420
NM_000135.4(FANCA):c.1203A>G (p.Pro401=) rs1180493781
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1290G>T (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1360-4A>G rs746911316
NM_000135.4(FANCA):c.1360-7C>T rs17232616
NM_000135.4(FANCA):c.1365C>T (p.Ser455=) rs897548553
NM_000135.4(FANCA):c.1419G>C (p.Leu473=) rs1337670144
NM_000135.4(FANCA):c.1461G>A (p.Arg487=) rs770851522
NM_000135.4(FANCA):c.1471-8A>G rs374717514
NM_000135.4(FANCA):c.1537T>C (p.Leu513=) rs144118098
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068
NM_000135.4(FANCA):c.169C>T (p.Leu57=) rs368828271
NM_000135.4(FANCA):c.1701C>T (p.Thr567=) rs745466726
NM_000135.4(FANCA):c.1710G>A (p.Glu570=) rs17226344
NM_000135.4(FANCA):c.1740G>A (p.Val580=) rs1400163791
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282
NM_000135.4(FANCA):c.1872C>A (p.Ala624=) rs571449307
NM_000135.4(FANCA):c.189+7G>A rs369985388
NM_000135.4(FANCA):c.1900+7T>A rs377401016
NM_000135.4(FANCA):c.1901-5C>G rs1060504375
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917
NM_000135.4(FANCA):c.201A>G (p.Pro67=) rs775320466
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086
NM_000135.4(FANCA):c.2124G>A (p.Thr708=) rs201668358
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.2172G>A (p.Thr724=) rs768851944
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.4(FANCA):c.2222+9G>A rs774316742
NM_000135.4(FANCA):c.2222+9G>C rs774316742
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906
NM_000135.4(FANCA):c.2317-8C>T rs753766357
NM_000135.4(FANCA):c.2391G>A (p.Ala797=) rs147882314
NM_000135.4(FANCA):c.2478G>A (p.Thr826=) rs147283549
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444
NM_000135.4(FANCA):c.2502G>A (p.Leu834=) rs770993950
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571
NM_000135.4(FANCA):c.2628C>A (p.Phe876Leu) rs368987148
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) rs149435806
NM_000135.4(FANCA):c.2648T>A (p.Leu883His) rs879255256
NM_000135.4(FANCA):c.2779-7T>C rs17233253
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980
NM_000135.4(FANCA):c.2904G>T (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.4(FANCA):c.2981+4dup rs75004096
NM_000135.4(FANCA):c.2994T>C (p.Tyr998=) rs758384536
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616
NM_000135.4(FANCA):c.3067-4T>C rs17227064
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389
NM_000135.4(FANCA):c.3168C>T (p.Leu1056=) rs377633991
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346
NM_000135.4(FANCA):c.324C>T (p.Pro108=) rs775822054
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) rs878853664
NM_000135.4(FANCA):c.3409-6C>G rs377428227
NM_000135.4(FANCA):c.3409-6C>T rs377428227
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=) rs1266179547
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625
NM_000135.4(FANCA):c.3576G>A (p.Pro1192=) rs553086820
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304
NM_000135.4(FANCA):c.3627-7G>C rs1161905441
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358
NM_000135.4(FANCA):c.3669C>T (p.Asp1223=) rs187074190
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.3792C>T (p.Ser1264=) rs141128234
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=) rs138144828
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.3934+74C>G rs56216970
NM_000135.4(FANCA):c.3935-4G>A rs1392135704
NM_000135.4(FANCA):c.3935-6T>C rs368376237
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396
NM_000135.4(FANCA):c.4167+8C>G rs772665586
NM_000135.4(FANCA):c.4210C>T (p.Leu1404=) rs1379441535
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln) rs370507983
NM_000135.4(FANCA):c.4261-8T>G rs372268907
NM_000135.4(FANCA):c.4261-9C>G rs368506826
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201
NM_000135.4(FANCA):c.4326T>C (p.Ala1442=) rs1555532716
NM_000135.4(FANCA):c.537T>G (p.Leu179=) rs749811331
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.543G>A (p.Ala181=) rs143314367
NM_000135.4(FANCA):c.596+6G>A rs369548513
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.4(FANCA):c.793-5G>T rs1461529538
NM_000135.4(FANCA):c.793-9T>C rs757500718
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566
NM_000135.4(FANCA):c.87G>A (p.Arg29=) rs760787108
NM_000135.4(FANCA):c.894-8A>G rs11648881
NM_000135.4(FANCA):c.897C>T (p.Phe299=) rs765341703
NM_000135.4(FANCA):c.924C>T (p.Gly308=) rs143255238
NM_000135.4(FANCA):c.948G>A (p.Leu316=) rs767146506
NM_000136.2(FANCC):c.1329+181_1329+183delCCT rs587778328
NM_000136.2(FANCC):c.1329+246delC rs542091036
NM_000136.2(FANCC):c.1534-5delT rs748342368
NM_000136.2(FANCC):c.345+8_345+9delAG rs755657969
NM_000136.2(FANCC):c.346-11_346-10delAT rs863224324
NM_000136.2(FANCC):c.844-10_844-8delCCT rs758617953
NM_000136.3(FANCC):c.*116A>C rs7048910
NM_000136.3(FANCC):c.*2085C>A rs4647559
NM_000136.3(FANCC):c.*2552T>C rs9673
NM_000136.3(FANCC):c.*359A>G rs4647551
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000136.3(FANCC):c.*604_*605del rs56271854
NM_000136.3(FANCC):c.*715_*718AGTT[2] rs56250966
NM_000136.3(FANCC):c.-29A>C rs4647414
NM_000136.3(FANCC):c.1023T>C (p.Phe341=) rs758439579
NM_000136.3(FANCC):c.1073-4G>A rs147695697
NM_000136.3(FANCC):c.1073-5C>T rs375613884
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258
NM_000136.3(FANCC):c.1200C>T (p.Phe400=) rs767215159
NM_000136.3(FANCC):c.1242G>A (p.Ser414=) rs587780939
NM_000136.3(FANCC):c.1257C>A (p.Pro419=) rs878853669
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=) rs766105286
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.1329+238C>T rs768988593
NM_000136.3(FANCC):c.1344C>T (p.Ala448=) rs760983825
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698
NM_000136.3(FANCC):c.1425A>G (p.Thr475=) rs199739450
NM_000136.3(FANCC):c.1485G>C (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080
NM_000136.3(FANCC):c.1530C>T (p.Thr510=) rs372199352
NM_000136.3(FANCC):c.1533+9C>T rs863224323
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474
NM_000136.3(FANCC):c.1594A>C (p.Arg532=) rs764649916
NM_000136.3(FANCC):c.15A>G (p.Ser5=) rs778408360
NM_000136.3(FANCC):c.1611C>A (p.Gly537=) rs1027358273
NM_000136.3(FANCC):c.1623T>G (p.Pro541=) rs375362894
NM_000136.3(FANCC):c.166-5C>T rs753820400
NM_000136.3(FANCC):c.166-7T>C rs369052148
NM_000136.3(FANCC):c.222T>C (p.Ala74=) rs1554857821
NM_000136.3(FANCC):c.288T>C (p.Cys96=) rs864622349
NM_000136.3(FANCC):c.399T>G (p.Leu133=) rs864622764
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832
NM_000136.3(FANCC):c.457-7T>C rs749994612
NM_000136.3(FANCC):c.468A>G (p.Ser156=) rs148616725
NM_000136.3(FANCC):c.521+10_521+13del rs1372625836
NM_000136.3(FANCC):c.522-4A>G rs371422485
NM_000136.3(FANCC):c.531C>T (p.Pro177=) rs150070473
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.654G>A (p.Glu218=) rs754705988
NM_000136.3(FANCC):c.672C>T (p.Asn224=) rs150647141
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.3(FANCC):c.783A>C (p.Leu261=) rs1060504646
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.3(FANCC):c.843+4C>T rs4647506
NM_000136.3(FANCC):c.882T>C (p.Val294=) rs750639831
NM_000136.3(FANCC):c.896+7G>A rs1554833182
NM_000136.3(FANCC):c.897-10C>T rs955495354
NM_000136.3(FANCC):c.897-8T>C rs878853673
NM_000136.3(FANCC):c.906C>G (p.Leu302=) rs766079351
NM_000136.3(FANCC):c.906C>T (p.Leu302=) rs766079351
NM_000136.3(FANCC):c.915C>T (p.Thr305=) rs138132690
NM_000136.3(FANCC):c.924C>G (p.Ala308=) rs864622225
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000136.3(FANCC):c.957G>A (p.Thr319=) rs1060504647
NM_000136.3(FANCC):c.993G>A (p.Lys331=) rs748582850
NM_000136.3(FANCC):c.996+9dup rs781108327
NM_000186.3(CFH):c.*98C>T rs35742764
NM_000186.3(CFH):c.-124G>T rs527444515
NM_000186.3(CFH):c.-36G>C rs140356702
NM_000186.3(CFH):c.-79A>G rs35906110
NM_000186.3(CFH):c.1428A>G (p.Gln476=) rs34399588
NM_000186.3(CFH):c.1548T>A (p.Asn516Lys) rs147403664
NM_000186.3(CFH):c.1652T>C (p.Ile551Thr) rs35453854
NM_000186.3(CFH):c.1736T>C (p.Val579Ala) rs201411537
NM_000186.3(CFH):c.1935G>T (p.Thr645=) rs56035657
NM_000186.3(CFH):c.1949G>T (p.Gly650Val) rs143237092
NM_000186.3(CFH):c.2196G>A (p.Thr732=) rs144325643
NM_000186.3(CFH):c.2236+8T>A rs7537967
NM_000186.3(CFH):c.245-7G>A rs35814900
NM_000186.3(CFH):c.2509G>A (p.Val837Ile) rs55807605
NM_000186.3(CFH):c.2634C>T (p.His878=) rs35292876
NM_000186.3(CFH):c.2637A>G (p.Gly879=) rs55752475
NM_000186.3(CFH):c.2639C>T (p.Thr880Ile) rs186711438
NM_000186.3(CFH):c.2850G>T (p.Gln950His) rs149474608
NM_000186.3(CFH):c.2867C>T (p.Thr956Met) rs145975787
NM_000186.3(CFH):c.2957-7A>G rs190778135
NM_000186.3(CFH):c.3050C>T (p.Thr1017Ile) rs34362004
NM_000186.3(CFH):c.3102T>C (p.Asn1034=) rs34594237
NM_000186.3(CFH):c.3133+8G>T rs142718541
NM_000186.3(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867
NM_000186.3(CFH):c.3172T>C (p.Tyr1058His) rs55679475
NM_000186.3(CFH):c.3176T>C (p.Ile1059Thr) rs35343172
NM_000186.3(CFH):c.3178G>C (p.Val1060Leu) rs55771831
NM_000186.3(CFH):c.3207T>C (p.Ser1069=) rs62641697
NM_000186.3(CFH):c.350+9T>C rs201686629
NM_000186.3(CFH):c.428-14T>C rs184188486
NM_000186.3(CFH):c.477T>C (p.Ser159=) rs34940854
NM_000186.3(CFH):c.770G>A (p.Arg257His) rs140107330
NM_000204.4(CFI):c.*144T>C rs77449037
NM_000204.4(CFI):c.*7G>T rs80173133
NM_000204.4(CFI):c.-13G>A rs113612355
NM_000204.4(CFI):c.1044+8C>T rs190420174
NM_000204.4(CFI):c.1044+9G>A rs568070697
NM_000204.4(CFI):c.1206C>T (p.Pro402=) rs115780371
NM_000204.4(CFI):c.1246A>C (p.Ile416Leu) rs61733901
NM_000204.4(CFI):c.1322A>G (p.Lys441Arg) rs41278047
NM_000204.4(CFI):c.1410T>C (p.Ser470=) rs200068862
NM_000204.4(CFI):c.1429+8T>C rs184313022
NM_000204.4(CFI):c.1443C>T (p.Val481=) rs114091883
NM_000204.4(CFI):c.1534+5G>T rs114013791
NM_000204.4(CFI):c.1581C>T (p.Gly527=) rs181378677
NM_000204.4(CFI):c.1642G>C (p.Glu548Gln) rs7437875
NM_000204.4(CFI):c.1657C>T (p.Pro553Ser) rs113460688
NM_000204.4(CFI):c.1661A>T (p.Glu554Val) rs754572081
NM_000204.4(CFI):c.315A>T (p.Thr105=) rs61745205
NM_000204.4(CFI):c.319A>G (p.Thr107Ala) rs201419000
NM_000204.4(CFI):c.482+14T>A rs76014294
NM_000204.4(CFI):c.608C>T (p.Thr203Ile) rs138346388
NM_000204.4(CFI):c.782G>A (p.Gly261Asp) rs112534524
NM_000204.4(CFI):c.905-3T>C rs377535161
NM_000204.4(CFI):c.916A>G (p.Ile306Val) rs113273712
NM_000229.2(LCAT):c.1177C>T (p.Leu393=) rs5923
NM_000253.3(MTTP):c.*183C>T rs74542928
NM_000253.3(MTTP):c.*506A>G rs6832119
NM_000253.3(MTTP):c.*862C>A rs6832927
NM_000253.3(MTTP):c.-214G>A rs569667113
NM_000253.3(MTTP):c.1151A>C (p.Asp384Ala) rs17029215
NM_000253.3(MTTP):c.136C>G (p.Arg46Gly) rs141736123
NM_000253.3(MTTP):c.1557+7T>A rs142706742
NM_000253.3(MTTP):c.1769+14C>T rs41275713
NM_000253.3(MTTP):c.1769+9C>T rs34734558
NM_000253.3(MTTP):c.1770-10T>C rs1194740423
NM_000253.3(MTTP):c.2433G>C (p.Leu811Phe) rs144590904
NM_000253.3(MTTP):c.2513+13G>A rs148073215
NM_000253.3(MTTP):c.2636A>G (p.Lys879Arg) rs114049933
NM_000253.3(MTTP):c.2657C>T (p.Pro886Leu) rs144600401
NM_000253.3(MTTP):c.285G>C (p.Gln95His) rs61733139
NM_000253.3(MTTP):c.294G>C (p.Glu98Asp) rs2306986
NM_000253.3(MTTP):c.39C>G (p.Ser13=) rs7667001
NM_000253.3(MTTP):c.497A>G (p.Asn166Ser) rs3792683
NM_000253.3(MTTP):c.502G>A (p.Val168Ile) rs61750974
NM_000253.3(MTTP):c.552A>T (p.Lys184Asn) rs144315111
NM_000253.3(MTTP):c.730C>G (p.Gln244Glu) rs17599091
NM_000253.3(MTTP):c.933C>A (p.Thr311=) rs17029213
NM_000253.3(MTTP):c.969T>C (p.Ala323=) rs17533489
NM_000254.2(MTR):c.1080A>G (p.Leu360=) rs141861479
NM_000254.2(MTR):c.2622G>A (p.Pro874=) rs141919148
NM_000289.6(PFKM):c.-171C>A rs41291959
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.1342-14G>T rs56117548
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000342.4(SLC4A1):c.*1103del rs111655803
NM_000342.4(SLC4A1):c.*1227A>C rs141425539
NM_000342.4(SLC4A1):c.*135G>A rs566741511
NM_000342.4(SLC4A1):c.*1568G>A rs5033
NM_000342.4(SLC4A1):c.*1721G>A rs62078947
NM_000342.4(SLC4A1):c.*270G>A rs5027
NM_000342.4(SLC4A1):c.*333C>A rs2072081
NM_000342.4(SLC4A1):c.*335G>A rs13306777
NM_000342.4(SLC4A1):c.*349G>A rs1465204
NM_000342.4(SLC4A1):c.*408C>T rs45555735
NM_000342.4(SLC4A1):c.*794del rs45515496
NM_000342.4(SLC4A1):c.*897G>A rs5030
NM_000342.4(SLC4A1):c.113A>C (p.Asp38Ala) rs5035
NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=) rs5015
NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=) rs13306781
NM_000342.4(SLC4A1):c.1323G>A (p.Leu441=) rs5017
NM_000342.4(SLC4A1):c.16-14G>A rs145502796
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=) rs35807245
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=) rs5020
NM_000342.4(SLC4A1):c.1953C>T (p.His651=) rs5021
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644
NM_000342.4(SLC4A1):c.2584G>A (p.Val862Ile) rs5026
NM_000342.4(SLC4A1):c.2688T>C (p.Asp896=) rs45497993
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733
NM_000342.4(SLC4A1):c.924G>A (p.Leu308=) rs5013
NM_000355.3(TCN2):c.-215C>T rs79083159
NM_000355.3(TCN2):c.-250C>T rs5753231
NM_000355.4(TCN2):c.*127C>T rs12160073
NM_000355.4(TCN2):c.*29C>A rs190828416
NM_000355.4(TCN2):c.*313dup rs397940476
NM_000355.4(TCN2):c.*82C>T rs12169610
NM_000355.4(TCN2):c.1023G>A (p.Pro341=) rs76802001
NM_000355.4(TCN2):c.1043C>T (p.Ser348Phe) rs9621049
NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser) rs1131603
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889
NM_000355.4(TCN2):c.174A>G (p.Leu58=) rs764601482
NM_000355.4(TCN2):c.230A>T (p.Lys77Met) rs75680863
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) rs150225103
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp) rs35838082
NM_000355.4(TCN2):c.65-8T>C rs773798398
NM_000355.4(TCN2):c.67A>G (p.Ile23Val) rs9606756
NM_000355.4(TCN2):c.753+8A>G rs778117023
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105
NM_000355.4(TCN2):c.998C>T (p.Thr333Met) rs117458738
NM_000361.2(THBD):c.*1171C>G rs143450327
NM_000361.2(THBD):c.*1239G>A rs549574979
NM_000361.2(THBD):c.*1469C>T rs3176124
NM_000361.2(THBD):c.*1562G>T rs183647515
NM_000361.2(THBD):c.*158G>A rs3176121
NM_000361.2(THBD):c.*1770T>C rs113252822
NM_000361.2(THBD):c.*1993T>C rs3176136
NM_000361.2(THBD):c.*2129C>A rs372816835
NM_000361.2(THBD):c.*2143C>T rs3176126
NM_000361.2(THBD):c.*26C>T rs13306852
NM_000361.2(THBD):c.*321G>T rs56354707
NM_000361.2(THBD):c.*325T>C rs186669520
NM_000361.2(THBD):c.*338C>T rs536637715
NM_000361.2(THBD):c.*351A>G rs11696919
NM_000361.2(THBD):c.*41T>C rs377311614
NM_000361.2(THBD):c.*47C>T rs551028498
NM_000361.2(THBD):c.*497G>A rs3176122
NM_000361.2(THBD):c.*520C>G rs41282276
NM_000361.2(THBD):c.*759A>T rs73611750
NM_000361.2(THBD):c.-12C>T rs370548660
NM_000361.2(THBD):c.1208G>A (p.Arg403Lys) rs41400249
NM_000361.2(THBD):c.127G>A (p.Ala43Thr) rs1800576
NM_000361.2(THBD):c.1502C>T (p.Pro501Leu) rs1800579
NM_000361.2(THBD):c.40G>A (p.Gly14Ser) rs191884040
NM_000373.4(UMPS):c.*1319G>A rs821375
NM_000373.4(UMPS):c.*1326C>A rs2242249
NM_000373.4(UMPS):c.*2202del rs397844102
NM_000373.4(UMPS):c.*2412_*2414GAA[1] rs369976877
NM_000373.4(UMPS):c.*2884A>G rs139426908
NM_000373.4(UMPS):c.*28A>G rs3772810
NM_000373.4(UMPS):c.*2901G>C rs144492816
NM_000373.4(UMPS):c.*3376C>T rs76151694
NM_000373.4(UMPS):c.*3414A>G rs115977637
NM_000373.4(UMPS):c.*3537G>A rs606369
NM_000373.4(UMPS):c.*3732C>T rs111966656
NM_000373.4(UMPS):c.*4252G>T rs117707217
NM_000373.4(UMPS):c.*4430C>T rs591963
NM_000373.4(UMPS):c.*4485G>T rs591896
NM_000373.4(UMPS):c.*4486G>A rs591886
NM_000373.4(UMPS):c.*4717C>T rs117624716
NM_000373.4(UMPS):c.*4906G>C rs702039
NM_000373.4(UMPS):c.*526A>G rs2242246
NM_000373.4(UMPS):c.*56del rs3836305
NM_000373.4(UMPS):c.*983C>T rs11706036
NM_000373.4(UMPS):c.*993A>T rs74704429
NM_000373.4(UMPS):c.1038A>G (p.Pro346=) rs17843835
NM_000373.4(UMPS):c.1050T>A (p.Val350=) rs2291078
NM_000373.4(UMPS):c.1336A>G (p.Ile446Val) rs3772809
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) rs17843776
NM_000375.3(UROS):c.-31G>T rs73381212
NM_000375.3(UROS):c.338A>T (p.Asp113Val) rs117926090
NM_000375.3(UROS):c.512T>G (p.Val171Gly) rs17173752
NM_000384.3(APOB):c.*11G>T rs72654428
NM_000384.3(APOB):c.*180G>T rs12720763
NM_000384.3(APOB):c.10701G>A (p.Thr3567=) rs12713558
NM_000384.3(APOB):c.10737C>T (p.Thr3579=) rs12713554
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln) rs1801701
NM_000384.3(APOB):c.11808C>T (p.Ile3936=) rs12720852
NM_000384.3(APOB):c.11904-7C>T rs12720851
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr) rs12714225
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys) rs1042031
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr) rs1801702
NM_000384.3(APOB):c.129G>C (p.Ala43=) rs12720850
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn) rs1042034
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met) rs12713450
NM_000384.3(APOB):c.1353-12C>T rs76202659
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) rs13306194
NM_000384.3(APOB):c.1785C>G (p.Ser595=) rs139864087
NM_000384.3(APOB):c.1853C>T (p.Ala618Val) rs679899
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn) rs12714192
NM_000384.3(APOB):c.2244+3G>A rs12714189
NM_000384.3(APOB):c.2604+15G>C rs72653066
NM_000384.3(APOB):c.2706C>T (p.Asn902=) rs1801700
NM_000384.3(APOB):c.2823A>G (p.Thr941=) rs200868559
NM_000384.3(APOB):c.293C>T (p.Thr98Ile) rs1367117
NM_000384.3(APOB):c.3509-10G>A rs12720770
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met) rs61736761
NM_000384.3(APOB):c.4163G>A (p.Arg1388His) rs13306187
NM_000384.3(APOB):c.433C>T (p.Pro145Ser) rs6752026
NM_000384.3(APOB):c.4365C>T (p.Phe1455=) rs12720847
NM_000384.3(APOB):c.538-9C>T rs1800478
NM_000384.3(APOB):c.581C>T (p.Thr194Met) rs13306198
NM_000384.3(APOB):c.607A>G (p.Ile203Val) rs72653059
NM_000384.3(APOB):c.6895G>C (p.Asp2299His) rs12713681
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val) rs1041968
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu) rs676210
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204
NM_000384.3(APOB):c.9004C>T (p.Leu3002=) rs12713600
NM_000384.3(APOB):c.904+11C>G rs148944625
NM_000384.3(APOB):c.9477G>A (p.Lys3159=) rs13306196
NM_000489.5(ATRX):c.1077G>T (p.Leu359=) rs782504858
NM_000489.5(ATRX):c.1256C>T (p.Ala419Val) rs374958282
NM_000489.5(ATRX):c.1625T>C (p.Val542Ala) rs782158232
NM_000489.5(ATRX):c.1878A>G (p.Lys626=) rs1557140595
NM_000489.5(ATRX):c.2064A>G (p.Lys688=) rs781991929
NM_000489.5(ATRX):c.222A>G (p.Ser74=) rs782427200
NM_000489.5(ATRX):c.2680A>C (p.Thr894Pro) rs145807475
NM_000489.5(ATRX):c.2763C>T (p.Val921=) rs782004945
NM_000489.5(ATRX):c.2859A>G (p.Thr953=) rs782180867
NM_000489.5(ATRX):c.2901A>G (p.Lys967=) rs782680197
NM_000489.5(ATRX):c.2968G>A (p.Glu990Lys) rs376883807
NM_000489.5(ATRX):c.3210A>G (p.Lys1070=) rs782634074
NM_000489.5(ATRX):c.3228T>A (p.Ser1076=) rs1205167045
NM_000489.5(ATRX):c.3559A>G (p.Asn1187Asp) rs782146598
NM_000489.5(ATRX):c.3801T>C (p.Pro1267=) rs149717199
NM_000489.5(ATRX):c.3987A>G (p.Glu1329=) rs147160114
NM_000489.5(ATRX):c.4347_4349AGA[1] (p.Glu1464del) rs587780288
NM_000489.5(ATRX):c.4365_4367GGA[4] (p.Glu1464del) rs398123423
NM_000489.5(ATRX):c.480C>T (p.Arg160=) rs1422750101
NM_000489.5(ATRX):c.5406A>G (p.Lys1802=) rs1200376246
NM_000489.5(ATRX):c.546A>G (p.Gln182=) rs375794120
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.5799A>G (p.Lys1933=) rs1557085918
NM_000489.5(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000489.5(ATRX):c.6240C>T (p.Asn2080=) rs1557069232
NM_000489.5(ATRX):c.6927T>A (p.Ile2309=) rs1557041797
NM_000489.5(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.5(ATRX):c.913A>G (p.Ser305Gly) rs782778928
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000518.5(HBB):c.*132+34C>A rs1277208445
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.171C>T (p.Gly57=) rs193922551
NM_000518.5(HBB):c.246C>G (p.Leu82=) rs145669504
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496
NM_000518.5(HBB):c.316-150C>G rs193922556
NM_000518.5(HBB):c.316-184T>C rs193922557
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000617.3(SLC11A2):c.-78G>A rs2301528
NM_000619.3(IFNG):c.*180C>T rs2069722
NM_000619.3(IFNG):c.*539A>G rs2069723
NM_000969.5(RPL5):c.-42A>C rs145634330
NM_000969.5(RPL5):c.-52C>G rs143326916
NM_000969.5(RPL5):c.-55C>G rs116168890
NM_000969.5(RPL5):c.-58G>T rs200437092
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806
NM_000969.5(RPL5):c.228C>T (p.Cys76=) rs370284124
NM_000969.5(RPL5):c.258T>C (p.Tyr86=) rs113792800
NM_000969.5(RPL5):c.3+13C>T rs189107197
NM_000969.5(RPL5):c.3+3G>C rs200628272
NM_000969.5(RPL5):c.325-11T>G rs145058455
NM_000969.5(RPL5):c.403A>G (p.Ile135Val) rs200075817
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832
NM_000969.5(RPL5):c.781G>C (p.Val261Leu) rs773839391
NM_000969.5(RPL5):c.846A>G (p.Gln282=) rs376641112
NM_000975.5(RPL11):c.*52A>G rs60606712
NM_000975.5(RPL11):c.153C>T (p.Ser51=) rs80133698
NM_000975.5(RPL11):c.24G>A (p.Lys8=) rs143617222
NM_000975.5(RPL11):c.258T>G (p.Gly86=) rs760885169
NM_000975.5(RPL11):c.300A>G (p.Ser100=) rs372622822
NM_000975.5(RPL11):c.30C>T (p.Asn10=) rs139286202
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880
NM_000975.5(RPL11):c.397-4A>G rs371228733
NM_000996.4(RPL35A):c.*14C>A rs10022
NM_000996.4(RPL35A):c.*6C>T rs116874993
NM_000996.4(RPL35A):c.-32-3A>G rs200335648
NM_000996.4(RPL35A):c.-33G>A rs564722971
NM_000996.4(RPL35A):c.21C>T (p.Ser7=) rs145660527
NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln) rs145244860
NM_001011.4(RPS7):c.*31C>T rs191506876
NM_001011.4(RPS7):c.-104G>A rs371620447
NM_001011.4(RPS7):c.-109C>T rs142444366
NM_001011.4(RPS7):c.-19+13C>T rs530845583
NM_001011.4(RPS7):c.-36A>C rs17552296
NM_001011.4(RPS7):c.-86C>T rs186304514
NM_001011.4(RPS7):c.273T>C (p.His91=) rs1442216854
NM_001011.4(RPS7):c.435C>T (p.Arg145=) rs142207795
NM_001014.4(RPS10):c.-43T>G rs111597547
NM_001014.4(RPS10):c.-47A>G rs529023165
NM_001014.4(RPS10):c.150+9delG rs372641476
NM_001014.5(RPS10):c.*43A>G rs200231286
NM_001014.5(RPS10):c.-14C>T rs576997899
NM_001014.5(RPS10):c.-21C>G rs181470609
NM_001014.5(RPS10):c.-29C>T rs140822093
NM_001014.5(RPS10):c.-98T>C rs113071821
NM_001014.5(RPS10):c.1-3C>G rs375500787
NM_001014.5(RPS10):c.111C>G (p.Asp37Glu) rs374314919
NM_001014.5(RPS10):c.135C>T (p.Val45=) rs148901210
NM_001014.5(RPS10):c.204C>T (p.Tyr68=) rs368563040
NM_001014.5(RPS10):c.231G>A (p.Gln77=) rs147863199
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753
NM_001014.5(RPS10):c.6G>A (p.Leu2=) rs146246722
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile) rs771007866
NM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr) rs764817410
NM_001018113.3(FANCB):c.1659G>A (p.Thr553=) rs767952529
NM_001018113.3(FANCB):c.1707A>G (p.Pro569=) rs1555904427
NM_001018113.3(FANCB):c.2394C>T (p.Val798=) rs190579053
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396
NM_001018113.3(FANCB):c.741C>A (p.Ile247=) rs760773732
NM_001018115.2(FANCD2):c.4281+270A>G rs17032386
NM_001022.3(RPS19):c.-234G>A rs142324259
NM_001022.3(RPS19):c.-274T>C rs77406992
NM_001022.3(RPS19):c.-288A>C rs192556926
NM_001022.4(RPS19):c.*54T>C rs527896025
NM_001022.4(RPS19):c.1-14A>G rs201317022
NM_001022.4(RPS19):c.411+12G>A rs61762296
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104
NM_001022.4(RPS19):c.72-10T>G rs1176399879
NM_001022.4(RPS19):c.72-92A>G rs566047445
NM_001022.4(RPS19):c.75C>T (p.Ser25=) rs370343297
NM_001029.5(RPS26):c.-209T>G rs78108003
NM_001029.5(RPS26):c.-27C>T rs200831849
NM_001029.5(RPS26):c.-35G>A rs188808121
NM_001029.5(RPS26):c.-3A>G rs181174349
NM_001040436.3(YARS2):c.*162A>G rs11052215
NM_001040436.3(YARS2):c.*191T>C rs144235100
NM_001040436.3(YARS2):c.*209G>C rs10844337
NM_001040436.3(YARS2):c.*406C>T rs145618550
NM_001040436.3(YARS2):c.*643G>A rs11052214
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) rs35339227
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) rs148729348
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445
NM_001063.4(TF):c.1602C>T (p.Tyr534=) rs7845
NM_001063.4(TF):c.1614C>T (p.Gly538=) rs8177286
NM_001063.4(TF):c.432C>T (p.Ser144=) rs41298987
NM_001063.4(TF):c.582A>G (p.Pro194=) rs8177226
NM_001063.4(TF):c.635+13T>A rs41298993
NM_001063.4(TF):c.804T>C (p.His268=) rs8177232
NM_001063.4(TF):c.829G>A (p.Gly277Ser) rs1799899
NM_001063.4(TF):c.887A>G (p.Asp296Gly) rs8177238
NM_001081.3(CUBN):c.*151G>A rs76742384
NM_001081.3(CUBN):c.*305T>G rs143326344
NM_001081.3(CUBN):c.*45C>T rs7085076
NM_001081.3(CUBN):c.*781C>T rs115080396
NM_001081.3(CUBN):c.*93C>A rs111644764
NM_001081.3(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.3(CUBN):c.109A>C (p.Ile37Leu) rs76788243
NM_001081.3(CUBN):c.1245T>C (p.Gly415=) rs12571671
NM_001081.3(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) rs12259370
NM_001081.3(CUBN):c.2571C>T (p.Asn857=) rs17432826
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001081.3(CUBN):c.2791+14C>T rs111781659
NM_001081.3(CUBN):c.2791+6A>C rs78549445
NM_001081.3(CUBN):c.3417A>G (p.Leu1139=) rs1801228
NM_001081.3(CUBN):c.4206C>T (p.Phe1402=) rs563089365
NM_001081.3(CUBN):c.4872C>T (p.Ile1624=) rs114958584
NM_001081.3(CUBN):c.5304C>T (p.Ile1768=) rs61841454
NM_001081.3(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.3(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305
NM_001081.3(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303
NM_001081.3(CUBN):c.6142C>G (p.Gln2048Glu) rs146995189
NM_001081.3(CUBN):c.618C>T (p.Tyr206=) rs41289313
NM_001081.3(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939
NM_001081.3(CUBN):c.6561G>A (p.Ser2187=) rs11254278
NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460
NM_001081.3(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389
NM_001081.3(CUBN):c.7107G>A (p.Gly2369=) rs145537365
NM_001081.3(CUBN):c.7662A>G (p.Pro2554=) rs3740165
NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168
NM_001081.3(CUBN):c.7913-11A>G rs7088988
NM_001081.3(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238
NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) rs45551835
NM_001081.3(CUBN):c.8950A>G (p.Ile2984Val) rs1801239
NM_001081.3(CUBN):c.9005A>G (p.Glu3002Gly) rs1801240
NM_001081.3(CUBN):c.9565A>G (p.Ile3189Val) rs111265129
NM_001082486.2(ACD):c.-37C>T rs1377497479
NM_001082486.2(ACD):c.413+7G>A rs1017802690
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala) rs139438549
NM_001099274.3(TINF2):c.-161G>A rs577503785
NM_001099274.3(TINF2):c.-172A>C rs11557911
NM_001099274.3(TINF2):c.-225G>A rs35781178
NM_001099274.3(TINF2):c.-266G>A rs35886534
NM_001099274.3(TINF2):c.-91C>T rs36124829
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr) rs192423622
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) rs117234138
NM_001099274.3(TINF2):c.1290C>G (p.Pro430=) rs201083863
NM_001099274.3(TINF2):c.159C>T (p.His53=) rs370875792
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg) rs189265179
NM_001099274.3(TINF2):c.45C>T (p.Ala15=) rs750285418
NM_001099274.3(TINF2):c.520C>T (p.Leu174=) rs374116388
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala) rs202093758
NM_001099274.3(TINF2):c.771C>T (p.His257=) rs75124018
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322
NM_001113378.1(FANCI):c.1111A>G (p.Ser371Gly) rs149008055
NM_001113378.1(FANCI):c.1114G>A (p.Val372Ile) rs76788798
NM_001113378.1(FANCI):c.1179T>C (p.Tyr393=) rs3743377
NM_001113378.1(FANCI):c.1200T>C (p.Asp400=) rs763959132
NM_001113378.1(FANCI):c.1278G>T (p.Leu426=) rs1060504377
NM_001113378.1(FANCI):c.1294-8C>T rs16942931
NM_001113378.1(FANCI):c.1294-9_1294-8insA rs1555445524
NM_001113378.1(FANCI):c.1491A>G (p.Gln497=) rs145349375
NM_001113378.1(FANCI):c.158G>C (p.Gly53Ala) rs149223439
NM_001113378.1(FANCI):c.164C>T (p.Pro55Leu) rs62020347
NM_001113378.1(FANCI):c.1680G>A (p.Gln560=) rs1181466139
NM_001113378.1(FANCI):c.1703A>G (p.His568Arg) rs555480773
NM_001113378.1(FANCI):c.1704T>C (p.His568=) rs200990786
NM_001113378.1(FANCI):c.1822-7delC rs1457763718
NM_001113378.1(FANCI):c.1891-6A>G rs878854175
NM_001113378.1(FANCI):c.1923G>A (p.Leu641=) rs750462548
NM_001113378.1(FANCI):c.1939T>C (p.Leu647=) rs150231327
NM_001113378.1(FANCI):c.1963G>A (p.Gly655Arg) rs138026584
NM_001113378.1(FANCI):c.1992+10T>C rs375345390
NM_001113378.1(FANCI):c.2023T>C (p.Leu675=) rs144800324
NM_001113378.1(FANCI):c.2028C>T (p.Ala676=) rs16942969
NM_001113378.1(FANCI):c.2097C>T (p.Tyr699=) rs148415946
NM_001113378.1(FANCI):c.2167C>T (p.Leu723=) rs878854177
NM_001113378.1(FANCI):c.2170-4T>C rs1167442446
NM_001113378.1(FANCI):c.2367G>T (p.Ala789=) rs11857960
NM_001113378.1(FANCI):c.2406T>C (p.Asp802=) rs147934193
NM_001113378.1(FANCI):c.2629A>T (p.Ile877Leu) rs35875311
NM_001113378.1(FANCI):c.2646A>G (p.Leu882=) rs199627578
NM_001113378.1(FANCI):c.2781T>A (p.Ile927=) rs771106622
NM_001113378.1(FANCI):c.2907A>C (p.Leu969Phe) rs568094959
NM_001113378.1(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939
NM_001113378.1(FANCI):c.3236C>T (p.Thr1079Met) rs191202700
NM_001113378.1(FANCI):c.3384G>A (p.Gln1128=) rs988319051
NM_001113378.1(FANCI):c.33A>G (p.Glu11=) rs878854180
NM_001113378.1(FANCI):c.3652-10A>G rs202231175
NM_001113378.1(FANCI):c.3652-9T>C rs971308997
NM_001113378.1(FANCI):c.3816+15A>T rs28493988
NM_001113378.1(FANCI):c.3834C>T (p.His1278=) rs1450412741
NM_001113378.1(FANCI):c.3846C>T (p.Ser1282=) rs34557339
NM_001113378.1(FANCI):c.3925-4C>T rs765962856
NM_001113378.1(FANCI):c.446-6T>G rs377255054
NM_001113378.1(FANCI):c.528A>G (p.Gln176=) rs145939211
NM_001113378.1(FANCI):c.670-8_670-6delGTT rs747690719
NM_001113378.1(FANCI):c.753C>T (p.Asp251=) rs151169233
NM_001113378.1(FANCI):c.756-4T>G rs1332788738
NM_001113378.1(FANCI):c.868G>A (p.Val290Met) rs113772230
NM_001113378.1(FANCI):c.976-13A>T rs145864790
NM_001113378.1(FANCI):c.993G>A (p.Lys331=) rs146916445
NM_001159287.1(TPI1):c.432T>C (p.Asp144=) rs141972556
NM_001159287.1(TPI1):c.655-10C>G rs115061797
NM_001159287.1(TPI1):c.655-14G>A rs72661109
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201
NM_001159287.1(TPI1):c.742+13G>A rs60115912
NM_001174126.1(SLC11A2):c.1629+1272A>C rs17125172
NM_001283009.1(RTEL1):c.3665G>T (p.Gly1222Val) rs1177347580
NM_001283009.1(RTEL1):c.3786C>T (p.Phe1262=) rs1555814752
NM_001283009.1(RTEL1):c.3801C>T (p.Ala1267=) rs368388044
NM_001354703.2(TF):c.-89-2055G>T rs8177186
NM_001355436.2(SPTB):c.6271C>A (p.Pro2091Thr) rs372733273
NM_001363.5(DKC1):c.1317C>T (p.Ala439=) rs143207180
NM_001363.5(DKC1):c.1494_1496GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532
NM_001363.5(DKC1):c.84+10A>T rs782718798
NM_001710.5(CFB):c.*23C>T rs4151672
NM_001710.5(CFB):c.*47C>T rs375895797
NM_001710.5(CFB):c.-186delG rs796979529
NM_001710.5(CFB):c.1037-10C>G rs201659953
NM_001710.5(CFB):c.1137C>T (p.Arg379=) rs45600936
NM_001710.5(CFB):c.1143C>T (p.Arg381=) rs150920440
NM_001710.5(CFB):c.1407C>G (p.Ile469Met) rs201798809
NM_001710.5(CFB):c.1524C>T (p.His508=) rs138207668
NM_001710.5(CFB):c.1598A>G (p.Lys533Arg) rs149101394
NM_001710.5(CFB):c.1693A>G (p.Lys565Glu) rs4151659
NM_001710.5(CFB):c.1697A>C (p.Glu566Ala) rs45484591
NM_001710.5(CFB):c.1778+9G>A rs188688680
NM_001710.5(CFB):c.2100C>T (p.Gly700=) rs116928087
NM_001710.5(CFB):c.221G>A (p.Arg74His) rs117314762
NM_001710.5(CFB):c.26T>A (p.Leu9His) rs4151667
NM_001710.5(CFB):c.405C>T (p.Tyr135=) rs4151650
NM_001710.5(CFB):c.504G>A (p.Pro168=) rs4151669
NM_001710.5(CFB):c.600C>T (p.Ser200=) rs113197809
NM_001710.5(CFB):c.604C>T (p.Arg202Trp) rs537478097
NM_001710.5(CFB):c.672C>T (p.Tyr224=) rs4151670
NM_001710.5(CFB):c.724A>C (p.Ile242Leu) rs144812066
NM_001710.5(CFB):c.754G>A (p.Gly252Ser) rs4151651
NM_001710.5(CFB):c.858C>T (p.Phe286=) rs117905900
NM_001849.3(COL6A2):c.*116T>C rs3087667
NM_001849.3(COL6A2):c.*119A>G rs1043962
NM_001849.3(COL6A2):c.*61G>A rs1043801
NM_001849.3(COL6A2):c.2592G>A (p.Thr864=) rs1042930
NM_001849.3(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_001849.3(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026
NM_001849.3(COL6A2):c.2979C>T (p.Arg993=) rs6652
NM_001849.3(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394
NM_001849.3(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483
NM_002389.4(CD46):c.*1435T>C rs14374
NM_002389.4(CD46):c.*1498G>T rs117431447
NM_002389.4(CD46):c.*1875T>G rs1237
NM_002389.4(CD46):c.*503A>G rs2724390
NM_002389.4(CD46):c.1058C>T (p.Ala353Val) rs35366573
NM_002389.4(CD46):c.1128-10C>T rs41317997
NM_002582.4(PARN):c.1377C>T (p.Ser459=) rs530411927
NM_002582.4(PARN):c.1406-9C>T rs530099133
NM_002582.4(PARN):c.1491C>T (p.Thr497=) rs750683123
NM_002582.4(PARN):c.210C>A (p.Gly70=) rs748166497
NM_002582.4(PARN):c.465T>C (p.Gly155=) rs1555508032
NM_002582.4(PARN):c.703-6T>C rs370304152
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) rs2307431
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.2(POLG):c.3644-99C>T rs3176241
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374
NM_004629.1(FANCG):c.-504A>T rs17885140
NM_004629.1(FANCG):c.1017T>C (p.His339=) rs764465471
NM_004629.1(FANCG):c.1133C>T (p.Ser378Leu) rs4986939
NM_004629.1(FANCG):c.1365C>A (p.Thr455=) rs767385265
NM_004629.1(FANCG):c.1433+9G>A rs187315404
NM_004629.1(FANCG):c.1545C>T (p.Ala515=) rs201422773
NM_004629.1(FANCG):c.1578C>T (p.Ala526=) rs1060504371
NM_004629.1(FANCG):c.1767C>T (p.Leu589=) rs1060504369
NM_004629.1(FANCG):c.177G>A (p.Gly59=) rs1554670511
NM_004629.1(FANCG):c.1806C>T (p.Pro602=) rs756632525
NM_004629.1(FANCG):c.333G>A (p.Gly111=) rs1060504370
NM_004629.1(FANCG):c.345A>G (p.Glu115=) rs1213271836
NM_004629.1(FANCG):c.366G>C (p.Trp122Cys) rs546023787
NM_004629.1(FANCG):c.373_375dup (p.Val125dup) rs750843326
NM_004629.1(FANCG):c.375C>A (p.Val125=) rs199754122
NM_004629.1(FANCG):c.399G>A (p.Pro133=) rs200278002
NM_004629.1(FANCG):c.558C>G (p.Pro186=) rs1554670415
NM_004629.1(FANCG):c.705G>A (p.Ala235=) rs148910563
NM_004629.1(FANCG):c.722C>T (p.Pro241Leu) rs201438531
NM_004629.1(FANCG):c.739C>A (p.Gln247Lys) rs145613634
NM_004629.1(FANCG):c.81C>T (p.Ala27=) rs1060504372
NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) rs2237857
NM_004629.1(FANCG):c.927C>G (p.Ala309=) rs370002843
NM_005050.4(ABCD4):c.57A>G (p.Gln19=) rs574817590
NM_005142.3(CBLIF):c.246C>T (p.Ser82=) rs35792306
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) rs150884181
NM_005142.3(CBLIF):c.764A>G (p.Asn255Ser) rs35867471
NM_005142.3(CBLIF):c.990C>T (p.Asn330=) rs2867802
NM_005236.2(ERCC4):c.1123C>T (p.Leu375=) rs376695854
NM_005236.2(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802
NM_005236.2(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259
NM_005236.2(ERCC4):c.1488A>T (p.Gln496His) rs146601373
NM_005236.2(ERCC4):c.1677T>C (p.Gly559=) rs776049363
NM_005236.2(ERCC4):c.1899C>G (p.Leu633=) rs954215121
NM_005236.2(ERCC4):c.1899C>T (p.Leu633=) rs954215121
NM_005236.2(ERCC4):c.1983A>G (p.Ala661=) rs373237850
NM_005236.2(ERCC4):c.2046A>G (p.Gln682=) rs565249189
NM_005236.2(ERCC4):c.228G>A (p.Leu76=) rs61760162
NM_005236.2(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.2(ERCC4):c.2427G>A (p.Thr809=) rs2020960
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.2734G>A (p.Gly912Arg) rs150077735
NM_005236.2(ERCC4):c.325G>A (p.Ala109Thr) rs148791570
NM_005236.2(ERCC4):c.372T>C (p.Pro124=) rs780096152
NM_005236.2(ERCC4):c.718C>T (p.Leu240=) rs746904084
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) rs1557115422
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981
NM_005373.2(MPL):c.*1054G>A rs139528456
NM_005373.2(MPL):c.*1116G>A rs144177827
NM_005373.2(MPL):c.*1126A>G rs543250497
NM_005373.2(MPL):c.*1180G>A rs117166528
NM_005373.2(MPL):c.*1486T>C rs149940158
NM_005373.2(MPL):c.*1506G>A rs115780311
NM_005373.2(MPL):c.*1603A>C rs142139493
NM_005373.2(MPL):c.*1674A>T rs536844021
NM_005373.2(MPL):c.*364C>T rs138892634
NM_005373.2(MPL):c.*400C>T rs558390922
NM_005373.2(MPL):c.*573G>A rs192016153
NM_005373.2(MPL):c.*662C>T rs1763698
NM_005373.2(MPL):c.*709C>T rs185654501
NM_005373.2(MPL):c.*748C>T rs190071085
NM_005373.2(MPL):c.*94C>A rs77858532
NM_005373.2(MPL):c.1003G>A (p.Glu335Lys) rs139770726
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.117G>T (p.Lys39Asn) rs17292650
NM_005373.2(MPL):c.1565+5C>T rs41269541
NM_005373.2(MPL):c.1570C>T (p.Leu524=) rs146372205
NM_005373.2(MPL):c.1609C>T (p.Arg537Trp) rs148784027
NM_005373.2(MPL):c.1653+3G>A rs149625825
NM_005373.2(MPL):c.1654-10T>A rs200460456
NM_005373.2(MPL):c.1666G>T (p.Val556Phe) rs150004498
NM_005373.2(MPL):c.1794C>T (p.Cys598=) rs143457144
NM_005373.2(MPL):c.1803C>T (p.Thr601=) rs140794721
NM_005373.2(MPL):c.210G>A (p.Pro70=) rs6086
NM_005373.2(MPL):c.340G>A (p.Val114Met) rs12731981
NM_005373.2(MPL):c.543T>C (p.Gly181=) rs17572791
NM_005373.2(MPL):c.677C>A (p.Ser226Tyr) rs141063159
NM_005373.2(MPL):c.690+11C>T rs144769485
NM_005373.2(MPL):c.771C>A (p.Arg257=) rs1553127722
NM_005373.2(MPL):c.854-3T>C rs201514537
NM_005373.2(MPL):c.962G>A (p.Arg321Gln) rs149265851
NM_006363.6(SEC23B):c.*657A>G rs114937628
NM_006363.6(SEC23B):c.*9_*10del rs142180765
NM_006363.6(SEC23B):c.-24C>T rs115614151
NM_006363.6(SEC23B):c.-57G>C rs113396443
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu) rs17807673
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp) rs147410912
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln) rs2273526
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150
NM_006563.4(KLF1):c.*185G>A rs137908457
NM_006563.4(KLF1):c.*22T>A rs149022596
NM_006563.4(KLF1):c.*291A>G rs531279487
NM_006563.4(KLF1):c.*367C>G rs375799978
NM_006563.4(KLF1):c.*454C>G rs538356283
NM_006563.4(KLF1):c.115A>C (p.Met39Leu) rs112631212
NM_006563.4(KLF1):c.259C>G (p.Pro87Ala) rs752204035
NM_006563.4(KLF1):c.286C>T (p.Leu96=) rs748056490
NM_006563.4(KLF1):c.311C>T (p.Ala104Val) rs182276666
NM_006563.4(KLF1):c.520G>T (p.Gly174Cys) rs566095433
NM_006563.4(KLF1):c.629C>G (p.Pro210Arg) rs530729436
NM_006657.2(FTCD):c.1443+9delG rs372045405
NM_006947.4(SRP72):c.*1764A>G rs192226722
NM_006947.4(SRP72):c.*194G>A rs188713088
NM_006947.4(SRP72):c.*221A>G rs149250989
NM_006947.4(SRP72):c.*24G>A rs144710632
NM_006947.4(SRP72):c.*407T>C rs541665813
NM_006947.4(SRP72):c.*558T>C rs568178342
NM_006947.4(SRP72):c.*972G>A rs189886380
NM_006947.4(SRP72):c.1380T>C (p.Tyr460=) rs73818109
NM_006947.4(SRP72):c.144G>T (p.Leu48=) rs112496764
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr) rs192401229
NM_006947.4(SRP72):c.1640+6dup rs572508224
NM_006947.4(SRP72):c.1650T>C (p.Asp550=) rs202073540
NM_006947.4(SRP72):c.1698T>C (p.Tyr566=) rs145347209
NM_006947.4(SRP72):c.1704A>G (p.Pro568=) rs41280351
NM_006947.4(SRP72):c.1803G>A (p.Gly601=) rs143643243
NM_006947.4(SRP72):c.2004A>G (p.Lys668=) rs148068843
NM_006947.4(SRP72):c.23G>A (p.Gly8Glu) rs760960779
NM_006947.4(SRP72):c.406G>A (p.Val136Ile) rs145817936
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) rs111673705
NM_006947.4(SRP72):c.789A>G (p.Leu263=) rs77935196
NM_006996.3(SLC19A2):c.*1814G>A rs12091844
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) rs61049753
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484
NM_007055.4(POLR3A):c.-103T>A rs117201371
NM_007055.4(POLR3A):c.-35C>G rs201700756
NM_012062.5(DNM1L):c.*1156G>C rs148183516
NM_012062.5(DNM1L):c.*1213G>T rs11052213
NM_012062.5(DNM1L):c.*1242G>A rs10844336
NM_012062.5(DNM1L):c.*1415T>C rs114366772
NM_012062.5(DNM1L):c.*21G>C rs1059422
NM_012062.5(DNM1L):c.*22A>T rs3200103
NM_012062.5(DNM1L):c.*271C>G rs1020670
NM_012062.5(DNM1L):c.*393A>C rs77298476
NM_012062.5(DNM1L):c.*600C>T rs3600
NM_012062.5(DNM1L):c.*744A>T rs1971911
NM_012461.3(TINF2):c.*709T>C rs183352266
NM_014646.2(LPIN2):c.*1052T>C rs59566682
NM_014646.2(LPIN2):c.*1691A>G rs112588494
NM_014646.2(LPIN2):c.*2197_*2198delTT rs55834965
NM_014646.2(LPIN2):c.*2241T>C rs16944033
NM_014646.2(LPIN2):c.*2493C>G rs8091401
NM_014646.2(LPIN2):c.*2822C>T rs73375246
NM_014646.2(LPIN2):c.*2923C>T rs202079191
NM_014646.2(LPIN2):c.*2924delC rs148191039
NM_014646.2(LPIN2):c.*2946G>A rs4781
NM_014646.2(LPIN2):c.*501T>C rs35176958
NM_014646.2(LPIN2):c.*557G>A rs112795993
NM_014646.2(LPIN2):c.*637G>A rs118142692
NM_014646.2(LPIN2):c.*723A>G rs76325993
NM_014646.2(LPIN2):c.*797T>G rs3810064
NM_014646.2(LPIN2):c.*950A>C rs3810065
NM_014646.2(LPIN2):c.*99C>T rs143728428
NM_014646.2(LPIN2):c.-36C>G rs58940048
NM_014646.2(LPIN2):c.-37C>G rs59096963
NM_014646.2(LPIN2):c.1168+11G>C rs79439091
NM_014646.2(LPIN2):c.1169-7delT rs746626720
NM_014646.2(LPIN2):c.1329C>A (p.Ser443=) rs759651506
NM_014646.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500
NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314
NM_014646.2(LPIN2):c.1800C>T (p.Ala600=) rs369572309
NM_014646.2(LPIN2):c.2316C>A (p.Ser772=) rs145270447
NM_014646.2(LPIN2):c.2371C>T (p.Leu791=) rs373520277
NM_014646.2(LPIN2):c.2443-9C>T rs191749331
NM_014646.2(LPIN2):c.2583C>T (p.Phe861=) rs141043192
NM_014646.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652
NM_014646.2(LPIN2):c.582G>A (p.Gln194=) rs1555677025
NM_014646.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528
NM_014646.2(LPIN2):c.87G>A (p.Gly29=) rs1346313879
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_016434.3(RTEL1):c.1002G>T (p.Leu334=) rs1555902826
NM_016434.3(RTEL1):c.1074G>A (p.Thr358=) rs375256851
NM_016434.3(RTEL1):c.120G>A (p.Leu40=) rs1555899465
NM_016434.3(RTEL1):c.1236A>G (p.Pro412=) rs914576910
NM_016434.3(RTEL1):c.1349-9G>A rs772899702
NM_016434.3(RTEL1):c.1595+9C>T rs370145267
NM_016434.3(RTEL1):c.1650C>T (p.Arg550=) rs147825631
NM_016434.3(RTEL1):c.1800+8C>T rs765664650
NM_016434.3(RTEL1):c.2145C>T (p.Phe715=) rs762607146
NM_016434.3(RTEL1):c.2325C>T (p.Ser775=) rs138950475
NM_016434.3(RTEL1):c.2358C>T (p.Thr786=) rs202106904
NM_016434.3(RTEL1):c.2427C>T (p.Ala809=) rs767770069
NM_016434.3(RTEL1):c.2661C>A (p.Pro887=) rs3848671
NM_016434.3(RTEL1):c.2678C>T (p.Thr893Met) rs141717966
NM_016434.3(RTEL1):c.2796C>T (p.Ala932=) rs143740470
NM_016434.3(RTEL1):c.2851+52T>C rs370125588
NM_016434.3(RTEL1):c.2975C>T (p.Pro992Leu) rs143967591
NM_016434.3(RTEL1):c.3006G>A (p.Pro1002=) rs201351158
NM_016434.3(RTEL1):c.3049G>A (p.Asp1017Asn) rs61736617
NM_016434.3(RTEL1):c.3219C>T (p.Ser1073=) rs376151757
NM_016434.3(RTEL1):c.3615C>T (p.Ser1205=) rs797045923
NM_016434.3(RTEL1):c.3630C>T (p.His1210=) rs564198378
NM_016434.3(RTEL1):c.3653-120C>T rs373109673
NM_016434.3(RTEL1):c.396-79C>T rs776396450
NM_016434.3(RTEL1):c.959T>C (p.Met320Thr) rs143550996
NM_016434.3(RTEL1):c.973C>T (p.Leu325=) rs142739953
NM_017838.3(NHP2):c.160+10A>T rs376220034
NM_017838.3(NHP2):c.72C>T (p.Tyr24=) rs202221169
NM_017875.4(SLC25A38):c.*472G>T rs141567816
NM_017875.4(SLC25A38):c.*588T>A rs6890
NM_017875.4(SLC25A38):c.*809C>T rs71325527
NM_017875.4(SLC25A38):c.-209A>G rs143903497
NM_017875.4(SLC25A38):c.-303A>C rs114422738
NM_017875.4(SLC25A38):c.382A>G (p.Met128Val) rs146940902
NM_018062.3(FANCL):c.1021-6T>C rs377052216
NM_018062.3(FANCL):c.1115G>C (p.Gly372Ala) rs149803148
NM_018062.3(FANCL):c.155+7T>C rs200849840
NM_018062.3(FANCL):c.156-8A>C rs878855045
NM_018062.3(FANCL):c.203G>C (p.Arg68Pro) rs143819820
NM_018062.3(FANCL):c.217-11T>C rs79588315
NM_018062.3(FANCL):c.273+7A>C rs745366278
NM_018062.3(FANCL):c.387G>A (p.Ala129=) rs141400460
NM_018062.3(FANCL):c.51C>G (p.Pro17=) rs772700022
NM_018062.3(FANCL):c.534A>G (p.Thr178=) rs151181785
NM_018062.3(FANCL):c.670A>G (p.Thr224Ala) rs149731356
NM_018062.3(FANCL):c.693T>G (p.Gly231=) rs864622189
NM_018062.3(FANCL):c.705C>T (p.Ser235=) rs1553435677
NM_018062.3(FANCL):c.81A>C (p.Gly27=) rs1553459821
NM_018062.3(FANCL):c.846A>G (p.Gln282=) rs535158133
NM_018062.3(FANCL):c.918T>C (p.Asp306=) rs1060504376
NM_018062.3(FANCL):c.96+10C>T rs184741617
NM_018062.3(FANCL):c.963T>A (p.Asp321Glu) rs140088149
NM_018081.2(WRAP53):c.1359C>T (p.Pro453=) rs35082161
NM_018081.2(WRAP53):c.807C>T (p.Arg269=) rs35307405
NM_018368.4(LMBRD1):c.1023C>T (p.Phe341=) rs765215874
NM_018368.4(LMBRD1):c.291A>G (p.Val97=) rs752864942
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=) rs138374055
NM_018648.3(NOP10):c.55-9C>T rs72720799
NM_020937.3(FANCM):c.1397-3_1397-2delTA rs112326758
NM_020937.4(FANCM):c.*232G>A rs7155480
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu) rs151071546
NM_020937.4(FANCM):c.1041G>A (p.Pro347=) rs140998495
NM_020937.4(FANCM):c.1396+10A>G rs371211104
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) rs142007602
NM_020937.4(FANCM):c.2190A>G (p.Gln730=) rs117392855
NM_020937.4(FANCM):c.219C>A (p.Gly73=) rs111252426
NM_020937.4(FANCM):c.2267G>A (p.Arg756His) rs142763060
NM_020937.4(FANCM):c.2268C>A (p.Arg756=) rs146061601
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala) rs61746895
NM_020937.4(FANCM):c.231C>T (p.Thr77=) rs377164876
NM_020937.4(FANCM):c.2330A>G (p.Tyr777Cys) rs200173413
NM_020937.4(FANCM):c.2445G>A (p.Ser815=) rs61745871
NM_020937.4(FANCM):c.2628T>C (p.Asp876=) rs374313777
NM_020937.4(FANCM):c.2670T>C (p.Phe890=) rs8017226
NM_020937.4(FANCM):c.2703A>G (p.Ser901=) rs781066677
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val) rs148871932
NM_020937.4(FANCM):c.2889C>T (p.Phe963=) rs544323144
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser) rs45604036
NM_020937.4(FANCM):c.4311T>C (p.Ser1437=) rs1017827085
NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val) rs78211950
NM_020937.4(FANCM):c.4709G>A (p.Arg1570His) rs201803784
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943
NM_020937.4(FANCM):c.491A>C (p.His164Pro) rs144278051
NM_020937.4(FANCM):c.5022T>C (p.Ser1674=) rs1295913364
NM_020937.4(FANCM):c.5026G>A (p.Glu1676Lys) rs769919966
NM_020937.4(FANCM):c.5142G>A (p.Ala1714=) rs111894696
NM_020937.4(FANCM):c.5199G>A (p.Gln1733=) rs1555367253
NM_020937.4(FANCM):c.523T>C (p.Ser175Pro) rs779858649
NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala) rs3736772
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser) rs45557033
NM_020937.4(FANCM):c.5685T>C (p.Cys1895=) rs746870942
NM_020937.4(FANCM):c.6084T>C (p.Tyr2028=) rs756119280
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=) rs8018014
NM_020937.4(FANCM):c.693A>G (p.Glu231=) rs146597866
NM_020937.4(FANCM):c.926A>C (p.Glu309Ala) rs143006771
NM_021922.2(FANCE):c.*151A>G rs16876572
NM_021922.2(FANCE):c.-56C>T rs4713866
NM_021922.2(FANCE):c.1053T>G (p.Leu351=) rs755165473
NM_021922.2(FANCE):c.1071C>T (p.Leu357=) rs3823434
NM_021922.2(FANCE):c.1116C>T (p.Ile372=) rs143234424
NM_021922.2(FANCE):c.1316+10C>T rs200479051
NM_021922.2(FANCE):c.1383+10C>T rs1060504374
NM_021922.2(FANCE):c.1464C>T (p.Ala488=) rs779775366
NM_021922.2(FANCE):c.1509C>T (p.Asn503=) rs147166240
NM_021922.2(FANCE):c.1510-9T>C rs369210475
NM_021922.2(FANCE):c.210G>A (p.Glu70=) rs1008512809
NM_021922.2(FANCE):c.246G>A (p.Glu82=) rs769779495
NM_021922.2(FANCE):c.248+7C>A rs186563531
NM_021922.2(FANCE):c.284A>G (p.Gln95Arg) rs149097636
NM_021922.2(FANCE):c.561A>G (p.Glu187=) rs1554121329
NM_021922.2(FANCE):c.611C>T (p.Ser204Leu) rs7761870
NM_021922.2(FANCE):c.798G>A (p.Ser266=) rs746542545
NM_021922.2(FANCE):c.999C>T (p.Leu333=) rs776082827
NM_022725.3(FANCF):c.*106T>C rs16909782
NM_022725.3(FANCF):c.*1629C>T rs10500938
NM_022725.3(FANCF):c.*319A>G rs12294705
NM_022725.3(FANCF):c.1035C>T (p.Ser345=) rs1554963603
NM_022725.3(FANCF):c.258C>A (p.Leu86=) rs146352365
NM_022725.3(FANCF):c.349C>A (p.Pro117Thr) rs372625322
NM_022725.3(FANCF):c.350C>T (p.Pro117Leu) rs374572943
NM_022725.3(FANCF):c.384A>C (p.Thr128=) rs200307118
NM_022725.3(FANCF):c.600C>T (p.Asn200=) rs143713546
NM_022725.3(FANCF):c.640T>C (p.Leu214=) rs773556058
NM_022725.3(FANCF):c.672C>T (p.Pro224=) rs148955347
NM_022725.3(FANCF):c.687A>T (p.Ser229=) rs776140806
NM_022725.3(FANCF):c.786A>G (p.Leu262=) rs11026706
NM_022725.3(FANCF):c.825G>A (p.Leu275=) rs36045913
NM_022725.3(FANCF):c.885T>G (p.Val295=) rs761238804
NM_022725.3(FANCF):c.891T>G (p.Thr297=) rs1060504373
NM_022725.3(FANCF):c.90C>T (p.Thr30=) rs544395896
NM_022725.3(FANCF):c.96C>T (p.Arg32=) rs151253274
NM_022725.3(FANCF):c.993C>G (p.Thr331=) rs751274756
NM_022762.5(RMND5B):c.*1774G>A rs375285426
NM_022836.4(DCLRE1B):c.279C>T (p.Thr93=) rs144640614
NM_022836.4(DCLRE1B):c.847C>T (p.Arg283Cys) rs145569979
NM_024675.3(PALB2):c.-158G>C rs138200248
NM_024675.3(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.1470C>T (p.Pro490=) rs45612837
NM_024675.3(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630
NM_024675.3(PALB2):c.1572A>G (p.Ser524=) rs45472400
NM_024675.3(PALB2):c.2014G>C (p.Glu672Gln) rs45532440
NM_024675.3(PALB2):c.2135C>T (p.Ala712Val) rs141458731
NM_024675.3(PALB2):c.2228A>G (p.Tyr743Cys) rs141749524
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.2742C>T (p.Phe914=) rs115759702
NM_024675.3(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro) rs149522412
NM_024675.3(PALB2):c.2881C>T (p.Leu961=) rs61755166
NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) rs45551636
NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969
NM_024675.3(PALB2):c.3300T>G (p.Thr1100=) rs45516100
NM_024675.3(PALB2):c.3495G>A (p.Ser1165=) rs45439097
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_024675.3(PALB2):c.765T>C (p.Asp255=) rs45465299
NM_024675.3(PALB2):c.909C>T (p.Leu303=) rs145788619
NM_024675.3(PALB2):c.925A>G (p.Ile309Val) rs3809683
NM_025099.6(CTC1):c.1068A>G (p.Leu356=) rs756221416
NM_025099.6(CTC1):c.1107C>T (p.Pro369=) rs576049782
NM_025099.6(CTC1):c.1207-4C>T rs369904656
NM_025099.6(CTC1):c.13C>T (p.Arg5Trp) rs201280372
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796
NM_025099.6(CTC1):c.1530C>T (p.Thr510=) rs376217684
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641
NM_025099.6(CTC1):c.1728G>T (p.Pro576=) rs78320653
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738
NM_025099.6(CTC1):c.1794G>A (p.Leu598=) rs1171819624
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648
NM_025099.6(CTC1):c.204C>T (p.Val68=) rs767705861
NM_025099.6(CTC1):c.2178C>T (p.His726=) rs201146538
NM_025099.6(CTC1):c.2244C>T (p.Val748=) rs758516017
NM_025099.6(CTC1):c.228C>T (p.His76=) rs531109382
NM_025099.6(CTC1):c.2370C>T (p.Asp790=) rs765241138
NM_025099.6(CTC1):c.2472C>G (p.Pro824=) rs558802130
NM_025099.6(CTC1):c.2476-7C>T rs189539795
NM_025099.6(CTC1):c.2508C>G (p.Ser836=) rs146214808
NM_025099.6(CTC1):c.2739G>A (p.Ala913=) rs745541560
NM_025099.6(CTC1):c.34-9T>G rs201195157
NM_025099.6(CTC1):c.3515-10C>T rs200225342
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392
NM_025099.6(CTC1):c.843T>C (p.Tyr281=) rs367935180
NM_025215.6(PUS1):c.*119C>T rs117705819
NM_025215.6(PUS1):c.*16C>T rs116003934
NM_025215.6(PUS1):c.364C>A (p.Arg122=) rs142954643
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496
NM_030943.3(AMN):c.735C>T (p.Pro245=) rs546245909
NM_032043.2(BRIP1):c.*1263A>G rs73991940
NM_032043.2(BRIP1):c.*1374T>C rs59115933
NM_032043.2(BRIP1):c.*152G>T rs540229694
NM_032043.2(BRIP1):c.*158T>C rs1978111
NM_032043.2(BRIP1):c.*172G>C rs111898257
NM_032043.2(BRIP1):c.*1820C>T rs114037902
NM_032043.2(BRIP1):c.*1964T>C rs140267868
NM_032043.2(BRIP1):c.*2082_*2085delTGTC rs10601136
NM_032043.2(BRIP1):c.*2090G>C rs60657820
NM_032043.2(BRIP1):c.*2241T>C rs76889595
NM_032043.2(BRIP1):c.*2538G>A rs150080122
NM_032043.2(BRIP1):c.*280G>C rs189935192
NM_032043.2(BRIP1):c.*283delA rs531656835
NM_032043.2(BRIP1):c.*3114delT rs35235448
NM_032043.2(BRIP1):c.*3450T>C rs74859843
NM_032043.2(BRIP1):c.*3488A>T rs11079454
NM_032043.2(BRIP1):c.*3514T>G rs10744996
NM_032043.2(BRIP1):c.*4000T>C rs8077553
NM_032043.2(BRIP1):c.*483C>T rs7213430
NM_032043.2(BRIP1):c.*616A>G rs116292412
NM_032043.2(BRIP1):c.*729C>T rs137967725
NM_032043.2(BRIP1):c.-197C>A rs180948389
NM_032043.2(BRIP1):c.-205G>A rs2048718
NM_032043.2(BRIP1):c.-31+12G>A rs4988340
NM_032043.2(BRIP1):c.1041A>G (p.Leu347=) rs1555607724
NM_032043.2(BRIP1):c.1050T>C (p.Cys350=) rs1555607717
NM_032043.2(BRIP1):c.1053A>G (p.Pro351=) rs544977115
NM_032043.2(BRIP1):c.1059C>T (p.Tyr353=) rs864622375
NM_032043.2(BRIP1):c.1071A>G (p.Glu357=) rs761017296
NM_032043.2(BRIP1):c.1089C>T (p.Asp363=) rs139701369
NM_032043.2(BRIP1):c.1140+10T>C rs1060504332
NM_032043.2(BRIP1):c.1140+11G>A rs369153270
NM_032043.2(BRIP1):c.1170C>T (p.Val390=) rs754755989
NM_032043.2(BRIP1):c.1176A>G (p.Leu392=) rs550092661
NM_032043.2(BRIP1):c.1188T>C (p.His396=) rs1555607189
NM_032043.2(BRIP1):c.1194C>T (p.Ile398=) rs757427498
NM_032043.2(BRIP1):c.1200C>T (p.Asp400=) rs1555607173
NM_032043.2(BRIP1):c.1207C>A (p.Arg403=) rs369631413
NM_032043.2(BRIP1):c.120A>G (p.Gln40=) rs878855136
NM_032043.2(BRIP1):c.1257G>A (p.Arg419=) rs148429663
NM_032043.2(BRIP1):c.1264C>T (p.Leu422=) rs768633507
NM_032043.2(BRIP1):c.1266A>T (p.Leu422=) rs1484320639
NM_032043.2(BRIP1):c.1287T>C (p.Asn429=) rs863224431
NM_032043.2(BRIP1):c.1296G>A (p.Lys432=) rs757400610
NM_032043.2(BRIP1):c.130T>C (p.Leu44=) rs758270108
NM_032043.2(BRIP1):c.1311C>T (p.Pro437=) rs1060504327
NM_032043.2(BRIP1):c.1332C>T (p.Ser444=) rs200581792
NM_032043.2(BRIP1):c.1340+7A>T rs755399646
NM_032043.2(BRIP1):c.1340+9A>T rs376487588
NM_032043.2(BRIP1):c.1341-8_1341-4delTATTT rs1555605965
NM_032043.2(BRIP1):c.1356C>T (p.Asn452=) rs730881640
NM_032043.2(BRIP1):c.1368T>C (p.Leu456=) rs878855138
NM_032043.2(BRIP1):c.1371A>G (p.Val457=) rs935612010
NM_032043.2(BRIP1):c.1383T>C (p.Tyr461=) rs587780875
NM_032043.2(BRIP1):c.1413T>C (p.Asn471=) rs1555605904
NM_032043.2(BRIP1):c.1443T>C (p.Gly481=) rs775431508
NM_032043.2(BRIP1):c.1455T>C (p.Ala485=) rs773489367
NM_032043.2(BRIP1):c.1485T>G (p.Ser495=) rs370658123
NM_032043.2(BRIP1):c.1524T>C (p.Tyr508=) rs1060504326
NM_032043.2(BRIP1):c.1566A>G (p.Ser522=) rs985465808
NM_032043.2(BRIP1):c.1615A>C (p.Arg539=) rs1555603468
NM_032043.2(BRIP1):c.1626C>T (p.Ser542=) rs373709958
NM_032043.2(BRIP1):c.1629-11T>C rs375710640
NM_032043.2(BRIP1):c.1629-500G>A rs1057517645
NM_032043.2(BRIP1):c.1629-6A>G rs755767691
NM_032043.2(BRIP1):c.1644T>C (p.Tyr548=) rs372760869
NM_032043.2(BRIP1):c.1653G>A (p.Ala551=) rs750213758
NM_032043.2(BRIP1):c.1686T>C (p.Ile562=) rs1374464175
NM_032043.2(BRIP1):c.1695A>C (p.Ser565=) rs142572387
NM_032043.2(BRIP1):c.1707G>A (p.Gly569=) rs878855141
NM_032043.2(BRIP1):c.1728T>C (p.Asn576=) rs1555602531
NM_032043.2(BRIP1):c.1731G>A (p.Lys577=) rs587780829
NM_032043.2(BRIP1):c.1752T>G (p.Thr584=) rs778774207
NM_032043.2(BRIP1):c.1773T>C (p.Phe591=) rs1057523507
NM_032043.2(BRIP1):c.1791T>G (p.Ala597=) rs1060504323
NM_032043.2(BRIP1):c.1795-9T>G rs777006706
NM_032043.2(BRIP1):c.1797C>G (p.Ala599=) rs771672834
NM_032043.2(BRIP1):c.1806T>C (p.Asp602=) rs878855142
NM_032043.2(BRIP1):c.1872G>A (p.Ser624=) rs145504336
NM_032043.2(BRIP1):c.1890A>G (p.Thr630=) rs145796331
NM_032043.2(BRIP1):c.1908G>A (p.Glu636=) rs1555602134
NM_032043.2(BRIP1):c.1935+11G>A rs79121306
NM_032043.2(BRIP1):c.1935+11_1935+13delGTT rs730881641
NM_032043.2(BRIP1):c.1935+7T>C rs201024366
NM_032043.2(BRIP1):c.1936-4C>T rs587780552
NM_032043.2(BRIP1):c.1936-7A>G rs1427111542
NM_032043.2(BRIP1):c.195A>G (p.Gln65=) rs141436143
NM_032043.2(BRIP1):c.1971T>G (p.Gly657=) rs1555601157
NM_032043.2(BRIP1):c.2061G>C (p.Val687=) rs112414873
NM_032043.2(BRIP1):c.2085G>A (p.Leu695=) rs1555601008
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2097+8A>C rs730881642
NM_032043.2(BRIP1):c.2097+8A>G rs730881642
NM_032043.2(BRIP1):c.2100A>G (p.Leu700=) rs766047812
NM_032043.2(BRIP1):c.2127C>T (p.Leu709=) rs1060504325
NM_032043.2(BRIP1):c.2130T>C (p.Ser710=) rs1555591497
NM_032043.2(BRIP1):c.2154G>A (p.Glu718=) rs1057523978
NM_032043.2(BRIP1):c.2155T>C (p.Leu719=) rs771122056
NM_032043.2(BRIP1):c.2169C>T (p.Val723=) rs749460936
NM_032043.2(BRIP1):c.2223G>T (p.Val741=) rs1057522996
NM_032043.2(BRIP1):c.2232C>T (p.Asp744=) rs374362388
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) rs111536363
NM_032043.2(BRIP1):c.2238C>A (p.Ile746=) rs876660416
NM_032043.2(BRIP1):c.2238C>T (p.Ile746=) rs876660416
NM_032043.2(BRIP1):c.225C>T (p.Gly75=) rs186802750
NM_032043.2(BRIP1):c.2262A>T (p.Gly754=) rs1060504324
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
NM_032043.2(BRIP1):c.2301G>A (p.Glu767=) rs369434185
NM_032043.2(BRIP1):c.2307G>A (p.Leu769=) rs1555590464
NM_032043.2(BRIP1):c.2310T>C (p.Asp770=) rs148752066
NM_032043.2(BRIP1):c.2322C>T (p.Asp774=) rs1057520434
NM_032043.2(BRIP1):c.2373T>C (p.Asp791=) rs876659615
NM_032043.2(BRIP1):c.2379+9T>C rs1555590278
NM_032043.2(BRIP1):c.2382T>G (p.Val794=) rs560088455
NM_032043.2(BRIP1):c.2409C>T (p.His803=) rs762039913
NM_032043.2(BRIP1):c.2412T>C (p.His804=) rs1555580913
NM_032043.2(BRIP1):c.2419T>C (p.Leu807=) rs786201708
NM_032043.2(BRIP1):c.2478C>T (p.Asn826=) rs774939280
NM_032043.2(BRIP1):c.2492+8G>C rs772953115
NM_032043.2(BRIP1):c.249A>G (p.Gln83=) rs45528833
NM_032043.2(BRIP1):c.2505C>T (p.His835=) rs775547651
NM_032043.2(BRIP1):c.2514T>C (p.Asp838=) rs1555574808
NM_032043.2(BRIP1):c.2556C>T (p.Asn852=) rs876658785
NM_032043.2(BRIP1):c.2562T>C (p.Ser854=) rs1555574734
NM_032043.2(BRIP1):c.2568T>C (p.Tyr856=) rs370175724
NM_032043.2(BRIP1):c.2575+10C>T rs1060504322
NM_032043.2(BRIP1):c.2576-17T>G rs1057517647
NM_032043.2(BRIP1):c.2576-7T>A rs759408257
NM_032043.2(BRIP1):c.2576-7T>C rs759408257
NM_032043.2(BRIP1):c.2637A>G (p.Glu879=) rs4986765
NM_032043.2(BRIP1):c.267A>G (p.Ala89=) rs764027029
NM_032043.2(BRIP1):c.267A>T (p.Ala89=) rs764027029
NM_032043.2(BRIP1):c.2739T>C (p.Ser913=) rs878855147
NM_032043.2(BRIP1):c.2748C>T (p.Tyr916=) rs555200296
NM_032043.2(BRIP1):c.2754C>T (p.Thr918=) rs878855148
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.276A>G (p.Ser92=) rs786202281
NM_032043.2(BRIP1):c.2811T>C (p.Asp937=) rs374335608
NM_032043.2(BRIP1):c.2814A>G (p.Glu938=) rs1555573311
NM_032043.2(BRIP1):c.2820G>A (p.Lys940=) rs786201396
NM_032043.2(BRIP1):c.2829C>A (p.Val943=) rs767164240
NM_032043.2(BRIP1):c.2829C>T (p.Val943=) rs767164240
NM_032043.2(BRIP1):c.2868A>G (p.Ser956=) rs1060504321
NM_032043.2(BRIP1):c.2872C>T (p.Leu958=) rs1555573260
NM_032043.2(BRIP1):c.2874A>T (p.Leu958=) rs886041147
NM_032043.2(BRIP1):c.2883C>T (p.Ser961=) rs367728797
NM_032043.2(BRIP1):c.288A>G (p.Thr96=) rs1278121295
NM_032043.2(BRIP1):c.2893A>C (p.Arg965=) rs113697814
NM_032043.2(BRIP1):c.2906-8A>G rs1555573005
NM_032043.2(BRIP1):c.2907T>C (p.Asn969=) rs1555572999
NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) rs75091137
NM_032043.2(BRIP1):c.294T>C (p.Asn98=) rs1555617859
NM_032043.2(BRIP1):c.297C>T (p.Asp99=) rs201617644
NM_032043.2(BRIP1):c.2991A>G (p.Thr997=) rs45466996
NM_032043.2(BRIP1):c.3042T>C (p.Gly1014=) rs188258913
NM_032043.2(BRIP1):c.3051G>A (p.Pro1017=) rs776990704
NM_032043.2(BRIP1):c.3069C>G (p.Leu1023=) rs61754142
NM_032043.2(BRIP1):c.3069C>T (p.Leu1023=) rs61754142
NM_032043.2(BRIP1):c.3075A>G (p.Ser1025=) rs1060504319
NM_032043.2(BRIP1):c.3075A>T (p.Ser1025=) rs1060504319
NM_032043.2(BRIP1):c.3079G>A (p.Glu1027Lys) rs371185409
NM_032043.2(BRIP1):c.3084T>C (p.Asn1028=) rs1424179519
NM_032043.2(BRIP1):c.3087T>C (p.Ser1029=) rs1555572848
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094
NM_032043.2(BRIP1):c.3117G>A (p.Glu1039=) rs769310105
NM_032043.2(BRIP1):c.312T>G (p.Thr104=) rs769190318
NM_032043.2(BRIP1):c.3139T>C (p.Leu1047=) rs1060504333
NM_032043.2(BRIP1):c.3165C>T (p.Ser1055=) rs1447544706
NM_032043.2(BRIP1):c.3174G>C (p.Leu1058=) rs1555572806
NM_032043.2(BRIP1):c.317G>A (p.Arg106His) rs143615668
NM_032043.2(BRIP1):c.3183C>T (p.Asn1061=) rs1555572792
NM_032043.2(BRIP1):c.3189G>A (p.Ser1063=) rs878855152
NM_032043.2(BRIP1):c.3225A>T (p.Ser1075=) rs1291039468
NM_032043.2(BRIP1):c.3234G>A (p.Lys1078=) rs570238270
NM_032043.2(BRIP1):c.3243C>T (p.Ala1081=) rs754003636
NM_032043.2(BRIP1):c.3267T>C (p.Ser1089=) rs876658543
NM_032043.2(BRIP1):c.3276G>A (p.Pro1092=) rs375911315
NM_032043.2(BRIP1):c.3279C>G (p.Leu1093=) rs1555572722
NM_032043.2(BRIP1):c.3285T>C (p.Ser1095=) rs774105218
NM_032043.2(BRIP1):c.3336T>C (p.Asp1112=) rs369843642
NM_032043.2(BRIP1):c.3354T>C (p.Asn1118=) rs757427210
NM_032043.2(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459
NM_032043.2(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.3472T>C (p.Leu1158=) rs1060504330
NM_032043.2(BRIP1):c.3489T>C (p.Asp1163=) rs144245485
NM_032043.2(BRIP1):c.3504A>G (p.Lys1168=) rs1259866317
NM_032043.2(BRIP1):c.3543A>G (p.Ser1181=) rs1060504328
NM_032043.2(BRIP1):c.3546C>T (p.Ala1182=) rs755440956
NM_032043.2(BRIP1):c.3552A>G (p.Glu1184=) rs1057522561
NM_032043.2(BRIP1):c.3567T>C (p.Asp1189=) rs764848326
NM_032043.2(BRIP1):c.3579A>G (p.Thr1193=) rs1060504331
NM_032043.2(BRIP1):c.357T>C (p.Asn119=) rs786202477
NM_032043.2(BRIP1):c.363T>A (p.Thr121=) rs876660306
NM_032043.2(BRIP1):c.36G>T (p.Gly12=) rs45566938
NM_032043.2(BRIP1):c.3717C>T (p.Ser1239=) rs758809865
NM_032043.2(BRIP1):c.3741T>A (p.Gly1247=) rs1555572413
NM_032043.2(BRIP1):c.380-24dup rs545021924
NM_032043.2(BRIP1):c.380-6T>C rs780921390
NM_032043.2(BRIP1):c.380-7A>G rs748143260
NM_032043.2(BRIP1):c.387T>C (p.Pro129=) rs779324498
NM_032043.2(BRIP1):c.408A>C (p.Ala136=) rs876660891
NM_032043.2(BRIP1):c.408A>G (p.Ala136=) rs876660891
NM_032043.2(BRIP1):c.412T>C (p.Leu138=) rs786201292
NM_032043.2(BRIP1):c.420T>C (p.Ala140=) rs1555616190
NM_032043.2(BRIP1):c.426A>G (p.Lys142=) rs768008017
NM_032043.2(BRIP1):c.432A>T (p.Ala144=) rs1342776835
NM_032043.2(BRIP1):c.462T>C (p.Phe154=) rs1555616156
NM_032043.2(BRIP1):c.484C>A (p.Arg162=) rs747604569
NM_032043.2(BRIP1):c.507+9_507+10delAG rs747185394
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.543C>T (p.His181=) rs1285947952
NM_032043.2(BRIP1):c.549G>A (p.Leu183=) rs1060504335
NM_032043.2(BRIP1):c.570A>G (p.Gly190=) rs1368897810
NM_032043.2(BRIP1):c.576T>C (p.Thr192=) rs781282996
NM_032043.2(BRIP1):c.57T>C (p.Tyr19=) rs876659588
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) rs4988347
NM_032043.2(BRIP1):c.587A>G (p.Asn196Ser) rs550707862
NM_032043.2(BRIP1):c.588C>T (p.Asn196=) rs758851721
NM_032043.2(BRIP1):c.595C>T (p.Leu199=) rs144969738
NM_032043.2(BRIP1):c.612C>G (p.Ser204=) rs587780832
NM_032043.2(BRIP1):c.618G>A (p.Ser206=) rs367614726
NM_032043.2(BRIP1):c.627+7A>G rs1060504334
NM_032043.2(BRIP1):c.628-10T>A rs375646029
NM_032043.2(BRIP1):c.630C>T (p.Pro210=) rs864622510
NM_032043.2(BRIP1):c.672A>C (p.Gly224=) rs752356873
NM_032043.2(BRIP1):c.672A>G (p.Gly224=) rs752356873
NM_032043.2(BRIP1):c.689C>T (p.Ser230Leu) rs759031349
NM_032043.2(BRIP1):c.690G>A (p.Ser230=) rs751460179
NM_032043.2(BRIP1):c.696C>T (p.Thr232=) rs772957320
NM_032043.2(BRIP1):c.69G>A (p.Pro23=) rs45458996
NM_032043.2(BRIP1):c.702G>A (p.Lys234=) rs45512798
NM_032043.2(BRIP1):c.732C>A (p.Pro244=) rs786202300
NM_032043.2(BRIP1):c.750A>G (p.Thr250=) rs1057522393
NM_032043.2(BRIP1):c.786G>A (p.Glu262=) rs876658312
NM_032043.2(BRIP1):c.790C>T (p.Arg264Trp) rs28997569
NM_032043.2(BRIP1):c.795G>A (p.Arg265=) rs61754143
NM_032043.2(BRIP1):c.816A>C (p.Pro272=) rs765027420
NM_032043.2(BRIP1):c.843T>C (p.His281=) rs1555609187
NM_032043.2(BRIP1):c.852C>T (p.Val284=) rs144940449
NM_032043.2(BRIP1):c.867C>T (p.Val289=) rs147739458
NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) rs28997570
NM_032043.2(BRIP1):c.918+15T>A rs117820198
NM_032043.2(BRIP1):c.918+7A>G rs1060504329
NM_032043.2(BRIP1):c.919-10T>G rs748497834
NM_032043.2(BRIP1):c.919-8G>A rs777079928
NM_032043.2(BRIP1):c.919-8G>T rs777079928
NM_032043.2(BRIP1):c.921A>G (p.Gly307=) rs786202337
NM_032043.2(BRIP1):c.924A>G (p.Lys308=) rs374974885
NM_032043.2(BRIP1):c.93+15G>A rs113052745
NM_032043.2(BRIP1):c.969C>T (p.His323=) rs1555607775
NM_032043.2(BRIP1):c.972A>T (p.Thr324=) rs779627397
NM_032043.2(BRIP1):c.978G>A (p.Gln326=) rs1555607764
NM_032043.2(BRIP1):c.984C>T (p.Phe328=) rs745379285
NM_032043.2(BRIP1):c.990G>A (p.Gly330=) rs1060504320
NM_032383.5(HPS3):c.*128A>G rs73019023
NM_032383.5(HPS3):c.*172G>A rs34511277
NM_032444.3(SLX4):c.2014-10_2014-8delCCT rs759422070
NM_032444.4(SLX4):c.*1004A>G rs75773027
NM_032444.4(SLX4):c.*113C>T rs76661336
NM_032444.4(SLX4):c.*655G>A rs116003727
NM_032444.4(SLX4):c.*721T>C rs75146816
NM_032444.4(SLX4):c.*807G>A rs115690937
NM_032444.4(SLX4):c.*8A>G rs3751839
NM_032444.4(SLX4):c.*984C>T rs57699393
NM_032444.4(SLX4):c.-104A>G rs73505426
NM_032444.4(SLX4):c.-295A>G rs59311338
NM_032444.4(SLX4):c.-359C>G rs57910835
NM_032444.4(SLX4):c.1065G>A (p.Gln355=) rs200183071
NM_032444.4(SLX4):c.1152A>G (p.Pro384=) rs112511042
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) rs115694169
NM_032444.4(SLX4):c.1156A>G (p.Met386Val) rs113490934
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032444.4(SLX4):c.1163+8G>A rs777094715
NM_032444.4(SLX4):c.1366+11T>C rs76350200
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927
NM_032444.4(SLX4):c.1389A>G (p.Lys463=) rs376668879
NM_032444.4(SLX4):c.1470C>T (p.Leu490=) rs139766312
NM_032444.4(SLX4):c.1662C>T (p.Leu554=) rs375996119
NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu) rs534528576
NM_032444.4(SLX4):c.1707G>A (p.Pro569=) rs141687678
NM_032444.4(SLX4):c.1800G>A (p.Pro600=) rs777829533
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556
NM_032444.4(SLX4):c.1809G>A (p.Ser603=) rs565202250
NM_032444.4(SLX4):c.1896G>C (p.Gly632=) rs200859735
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp) rs1056085
NM_032444.4(SLX4):c.1911G>T (p.Ser637=) rs200013924
NM_032444.4(SLX4):c.192A>G (p.Lys64=) rs756720856
NM_032444.4(SLX4):c.1977G>A (p.Ser659=) rs572117922
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244
NM_032444.4(SLX4):c.2022C>T (p.Leu674=) rs139900828
NM_032444.4(SLX4):c.2047G>A (p.Ala683Thr) rs115866745
NM_032444.4(SLX4):c.2055C>T (p.Val685=) rs775934995
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420
NM_032444.4(SLX4):c.2112C>T (p.Tyr704=) rs566797597
NM_032444.4(SLX4):c.2181C>T (p.Ser727=) rs565391485
NM_032444.4(SLX4):c.2193C>T (p.Asp731=) rs551541558
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala) rs151105762
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val) rs149584080
NM_032444.4(SLX4):c.2742T>C (p.Asp914=) rs1060504342
NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser) rs79448721
NM_032444.4(SLX4):c.2748C>T (p.Ala916=) rs374815885
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006
NM_032444.4(SLX4):c.2850G>A (p.Glu950=) rs751882942
NM_032444.4(SLX4):c.2854G>A (p.Ala952Thr) rs59939128
NM_032444.4(SLX4):c.2855C>T (p.Ala952Val) rs78637028
NM_032444.4(SLX4):c.3012C>T (p.Pro1004=) rs533668167
NM_032444.4(SLX4):c.3108A>G (p.Leu1036=) rs751431046
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917
NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp) rs144273492
NM_032444.4(SLX4):c.3180G>C (p.Arg1060=) rs747169328
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=) rs200742809
NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro) rs201582780
NM_032444.4(SLX4):c.339T>C (p.Ser113=) rs144326379
NM_032444.4(SLX4):c.3438C>T (p.Asn1146=) rs78541095
NM_032444.4(SLX4):c.3583_3585del (p.Ile1195del) rs199897550
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530
NM_032444.4(SLX4):c.3663G>A (p.Ala1221=) rs760656992
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp) rs142008398
NM_032444.4(SLX4):c.3738C>T (p.Ser1246=) rs376232540
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=) rs146054214
NM_032444.4(SLX4):c.3782C>T (p.Pro1261Leu) rs374056556
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867
NM_032444.4(SLX4):c.3801T>C (p.Arg1267=) rs772673695
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813
NM_032444.4(SLX4):c.3868C>A (p.His1290Asn) rs112596894
NM_032444.4(SLX4):c.3900A>G (p.Glu1300=) rs1060504341
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=) rs116781836
NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln) rs79174372
NM_032444.4(SLX4):c.4167G>A (p.Ala1389=) rs541433695
NM_032444.4(SLX4):c.422G>T (p.Gly141Val) rs77306735
NM_032444.4(SLX4):c.423G>A (p.Gly141=) rs111405249
NM_032444.4(SLX4):c.426T>A (p.Gly142=) rs377500336
NM_032444.4(SLX4):c.4335G>A (p.Arg1445=) rs139377113
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962
NM_032444.4(SLX4):c.4347G>A (p.Leu1449=) rs373300793
NM_032444.4(SLX4):c.4371G>A (p.Arg1457=) rs745485209
NM_032444.4(SLX4):c.4383C>T (p.Ala1461=) rs556719111
NM_032444.4(SLX4):c.4456A>C (p.Arg1486=) rs200536796
NM_032444.4(SLX4):c.4485G>C (p.Ala1495=) rs140872903
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=) rs146532299
NM_032444.4(SLX4):c.4545C>T (p.Asp1515=) rs142851654
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) rs78635099
NM_032444.4(SLX4):c.4600G>A (p.Gly1534Ser) rs78770603
NM_032444.4(SLX4):c.465A>G (p.Glu155=) rs138512851
NM_032444.4(SLX4):c.4665C>T (p.Pro1555=) rs749018784
NM_032444.4(SLX4):c.4686G>A (p.Pro1562=) rs752013105
NM_032444.4(SLX4):c.4716G>A (p.Pro1572=) rs372472816
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=) rs140844106
NM_032444.4(SLX4):c.5106C>T (p.Ser1702=) rs1421905027
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr) rs75182789
NM_032444.4(SLX4):c.5229G>A (p.Ser1743=) rs140231739
NM_032444.4(SLX4):c.5250G>A (p.Ala1750=) rs370495748
NM_032444.4(SLX4):c.5382G>A (p.Ser1794=) rs368848191
NM_032444.4(SLX4):c.5403G>C (p.Leu1801=) rs577770118
NM_032444.4(SLX4):c.5436C>T (p.Ala1812=) rs200473811
NM_032444.4(SLX4):c.5467C>A (p.Arg1823=) rs771230395
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850
NM_032444.4(SLX4):c.590T>C (p.Val197Ala) rs147826749
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542
NM_032444.4(SLX4):c.73G>A (p.Gly25Arg) rs201533738
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys) rs148547201
NM_032444.4(SLX4):c.7C>T (p.Leu3=) rs751472980
NM_032444.4(SLX4):c.801G>A (p.Ala267=) rs375643423
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln) rs201192909
NM_032444.4(SLX4):c.85C>T (p.Arg29Cys) rs144832924
NM_032444.4(SLX4):c.921C>T (p.Asn307=) rs370468973
NM_032609.3(COX4I2):c.482G>A (p.Arg161His) rs11907253
NM_032957.4(RTEL1):c.431C>T (p.Thr144Ile) rs41297642
NM_033022.3(RPS24):c.*21C>T rs114512325
NM_033022.3(RPS24):c.*99T>C rs146068394
NM_033022.3(RPS24):c.-36T>G rs45533232
NM_033022.3(RPS24):c.-50G>A rs190989611
NM_033022.3(RPS24):c.-8T>G rs185722293
NM_033022.3(RPS24):c.168T>C (p.Phe56=) rs57866839
NM_033022.3(RPS24):c.177A>G (p.Gly59=) rs6496
NM_033022.3(RPS24):c.189T>C (p.His63=) rs201805132
NM_033022.3(RPS24):c.235C>T (p.Leu79=) rs192994060
NM_033022.3(RPS24):c.371A>G (p.Asn124Ser) rs147128920
NM_033022.3(RPS24):c.6C>T (p.Asn2=) rs746098498
NM_033084.5(FANCD2):c.-6G>C rs3732974
NM_033084.5(FANCD2):c.1130A>G (p.His377Arg) rs141141752
NM_033084.5(FANCD2):c.1134+10A>G rs758751922
NM_033084.5(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_033084.5(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_033084.5(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_033084.5(FANCD2):c.1311G>A (p.Ser437=) rs564577177
NM_033084.5(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247
NM_033084.5(FANCD2):c.1414-9C>T rs35557429
NM_033084.5(FANCD2):c.1440T>C (p.His480=) rs375412395
NM_033084.5(FANCD2):c.1470T>C (p.Asp490=) rs567183176
NM_033084.5(FANCD2):c.1675A>G (p.Ile559Val) rs201408009
NM_033084.5(FANCD2):c.182C>T (p.Thr61Met) rs35110529
NM_033084.5(FANCD2):c.183G>A (p.Thr61=) rs771445756
NM_033084.5(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315
NM_033084.5(FANCD2):c.1917C>A (p.Ile639=) rs151224882
NM_033084.5(FANCD2):c.2103G>T (p.Pro701=) rs139033444
NM_033084.5(FANCD2):c.2124T>C (p.Phe708=) rs9809716
NM_033084.5(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431
NM_033084.5(FANCD2):c.2418T>G (p.Pro806=) rs61751577
NM_033084.5(FANCD2):c.2495-4T>G rs1553612428
NM_033084.5(FANCD2):c.2702G>T (p.Gly901Val) rs35495399
NM_033084.5(FANCD2):c.2712C>T (p.Asn904=) rs35594075
NM_033084.5(FANCD2):c.2826G>C (p.Thr942=) rs200118565
NM_033084.5(FANCD2):c.311T>C (p.Ile104Thr) rs143936557
NM_033084.5(FANCD2):c.3165C>T (p.Tyr1055=) rs375929975
NM_033084.5(FANCD2):c.3645T>A (p.Pro1215=) rs1168183069
NM_033084.5(FANCD2):c.4362G>A (p.Leu1454=) rs145889419
NM_033084.5(FANCD2):c.438+8T>G rs762114353
NM_033084.5(FANCD2):c.4396C>A (p.Pro1466Thr) rs78896323
NM_033084.5(FANCD2):c.491+10G>A rs17032279
NM_033084.5(FANCD2):c.516A>G (p.Ile172Met) rs35173688
NM_033084.5(FANCD2):c.538C>T (p.Leu180=) rs373835427
NM_033084.5(FANCD2):c.577A>G (p.Thr193Ala) rs34936017
NM_033084.5(FANCD2):c.64+12G>C rs9833228
NM_033084.5(FANCD2):c.672C>T (p.His224=) rs371928644
NM_033084.5(FANCD2):c.78A>C (p.Gln26His) rs45510294
NM_033084.5(FANCD2):c.813G>A (p.Ser271=) rs773072936
NM_033084.5(FANCD2):c.864C>T (p.Ser288=) rs780547790
NM_033084.5(FANCD2):c.986C>G (p.Ala329Gly) rs116736407
NM_058216.3(RAD51C):c.*25C>G rs28363336
NM_058216.3(RAD51C):c.-26C>T rs12946397
NM_058216.3(RAD51C):c.1008A>G (p.Thr336=) rs1057521598
NM_058216.3(RAD51C):c.1059T>C (p.Ser353=) rs1399862812
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=) rs201000407
NM_058216.3(RAD51C):c.1089G>A (p.Leu363=) rs559647198
NM_058216.3(RAD51C):c.114C>T (p.Leu38=) rs786202265
NM_058216.3(RAD51C):c.129C>G (p.Pro43=) rs1555592066
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602
NM_058216.3(RAD51C):c.145+12T>G rs377297129
NM_058216.3(RAD51C):c.146-15T>C rs1036386535
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303
NM_058216.3(RAD51C):c.189T>C (p.Ile63=) rs730881923
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291
NM_058216.3(RAD51C):c.207C>T (p.Leu69=) rs1057523582
NM_058216.3(RAD51C):c.225T>C (p.Tyr75=) rs1555593553
NM_058216.3(RAD51C):c.234A>G (p.Thr78=) rs730881929
NM_058216.3(RAD51C):c.240G>A (p.Glu80=) rs779053608
NM_058216.3(RAD51C):c.252G>A (p.Lys84=) rs786202890
NM_058216.3(RAD51C):c.258A>T (p.Thr86=) rs149228565
NM_058216.3(RAD51C):c.262C>T (p.Leu88=) rs786201383
NM_058216.3(RAD51C):c.270T>C (p.Leu90=) rs1555593651
NM_058216.3(RAD51C):c.315A>G (p.Ser105=) rs876660032
NM_058216.3(RAD51C):c.318A>C (p.Ala106=) rs781371468
NM_058216.3(RAD51C):c.319C>T (p.Leu107=) rs752817595
NM_058216.3(RAD51C):c.336G>A (p.Gly112=) rs746122031
NM_058216.3(RAD51C):c.336G>C (p.Gly112=) rs746122031
NM_058216.3(RAD51C):c.342A>G (p.Gly114=) rs1555593777
NM_058216.3(RAD51C):c.351A>G (p.Leu117=) rs370986989
NM_058216.3(RAD51C):c.357A>G (p.Lys119=) rs863224434
NM_058216.3(RAD51C):c.363A>G (p.Thr121=) rs876659626
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784
NM_058216.3(RAD51C):c.396A>C (p.Thr132=) rs766221834
NM_058216.3(RAD51C):c.400T>C (p.Leu134=) rs863224435
NM_058216.3(RAD51C):c.405-8G>A rs1431351072
NM_058216.3(RAD51C):c.405T>C (p.Cys135=) rs537272666
NM_058216.3(RAD51C):c.417A>G (p.Ala139=) rs863224436
NM_058216.3(RAD51C):c.420A>G (p.Val140=) rs1060504672
NM_058216.3(RAD51C):c.435A>G (p.Pro145=) rs555235745
NM_058216.3(RAD51C):c.453G>A (p.Val151=) rs45553636
NM_058216.3(RAD51C):c.477T>C (p.Asp159=) rs760436864
NM_058216.3(RAD51C):c.480A>G (p.Thr160=) rs1060504670
NM_058216.3(RAD51C):c.513C>T (p.Asp171=) rs140279158
NM_058216.3(RAD51C):c.537C>T (p.His179=) rs372385738
NM_058216.3(RAD51C):c.546T>G (p.Leu182=) rs1476282276
NM_058216.3(RAD51C):c.54G>T (p.Pro18=) rs1555591865
NM_058216.3(RAD51C):c.564G>A (p.Lys188=) rs876658264
NM_058216.3(RAD51C):c.570G>A (p.Glu190=) rs1555594937
NM_058216.3(RAD51C):c.571+16A>G rs141621051
NM_058216.3(RAD51C):c.651A>T (p.Thr217=) rs757915374
NM_058216.3(RAD51C):c.654G>A (p.Glu218=) rs1388636466
NM_058216.3(RAD51C):c.658C>T (p.Leu220=) rs1555597205
NM_058216.3(RAD51C):c.705+10A>G rs377586976
NM_058216.3(RAD51C):c.706-13C>G rs747406535
NM_058216.3(RAD51C):c.706-18T>C rs56401264
NM_058216.3(RAD51C):c.706-6A>G rs776931174
NM_058216.3(RAD51C):c.706-7T>C rs1555599087
NM_058216.3(RAD51C):c.706-9T>C rs1060504671
NM_058216.3(RAD51C):c.717G>C (p.Val239=) rs1555599108
NM_058216.3(RAD51C):c.744T>C (p.Phe248=) rs150142859
NM_058216.3(RAD51C):c.756A>G (p.Leu252=) rs863224437
NM_058216.3(RAD51C):c.783A>G (p.Leu261=) rs138643096
NM_058216.3(RAD51C):c.78G>A (p.Lys26=) rs864622460
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_058216.3(RAD51C):c.837+14A>G rs1057517644
NM_058216.3(RAD51C):c.837+7A>G rs1555599293
NM_058216.3(RAD51C):c.840A>G (p.Val280=) rs756503509
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_058216.3(RAD51C):c.870T>A (p.Ile290=) rs376402418
NM_058216.3(RAD51C):c.879T>C (p.Asn293=) rs1555602132
NM_058216.3(RAD51C):c.87T>C (p.Ser29=) rs786203249
NM_058216.3(RAD51C):c.904+7A>C rs1555602171
NM_058216.3(RAD51C):c.905-7C>T rs757624360
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895
NM_058216.3(RAD51C):c.945T>C (p.Phe315=) rs201235884
NM_058216.3(RAD51C):c.966-4G>C rs878855183
NM_058216.3(RAD51C):c.967T>C (p.Leu323=) rs747727600
NM_058216.3(RAD51C):c.9G>C (p.Gly3=) rs751117852
NM_080669.6(SLC46A1):c.*2123G>C rs7225850
NM_080669.6(SLC46A1):c.*2843G>A rs118138669
NM_080669.6(SLC46A1):c.*2853G>A rs739439
NM_080669.6(SLC46A1):c.*2968C>T rs12453383
NM_080669.6(SLC46A1):c.*3266G>A rs73273104
NM_080669.6(SLC46A1):c.*3785T>C rs117451747
NM_080669.6(SLC46A1):c.*729G>A rs41297903
NM_080669.6(SLC46A1):c.294C>A (p.Leu98=) rs371270310
NM_138477.4(CDAN1):c.*463_*465del rs111961345
NM_138477.4(CDAN1):c.157C>T (p.Leu53=) rs186189866
NM_138477.4(CDAN1):c.1968C>T (p.Thr656=) rs61742992
NM_138477.4(CDAN1):c.1969G>A (p.Gly657Ser) rs61747153
NM_138477.4(CDAN1):c.2445C>T (p.Gly815=) rs114208791
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp) rs114779238
NM_138477.4(CDAN1):c.2948-13C>T rs117946783
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln) rs61746356
NM_138477.4(CDAN1):c.3450+11C>T rs56046122
NM_138477.4(CDAN1):c.386G>A (p.Arg129His) rs12441516
NM_138477.4(CDAN1):c.558C>G (p.Pro186=) rs12594325
NM_138477.4(CDAN1):c.816C>A (p.Thr272=) rs76599133
NM_153609.3(TMPRSS6):c.*546T>C rs142181201
NM_153609.3(TMPRSS6):c.*580C>G rs145137288
NM_153609.3(TMPRSS6):c.*86C>T rs116795891
NM_153609.3(TMPRSS6):c.1254C>T (p.Tyr418=) rs881144
NM_153609.3(TMPRSS6):c.1336C>T (p.Arg446Trp) rs117576908
NM_153609.3(TMPRSS6):c.1468+12G>A rs78640241
NM_153609.3(TMPRSS6):c.1468+15C>T rs111807510
NM_153609.3(TMPRSS6):c.1663C>T (p.Pro555Ser) rs78174698
NM_153609.3(TMPRSS6):c.2139C>T (p.Gly713=) rs118004991
NM_153609.3(TMPRSS6):c.2346C>T (p.Ser782=) rs73886915
NM_153609.3(TMPRSS6):c.564C>T (p.Ala188=) rs139207981
NM_153609.3(TMPRSS6):c.606A>C (p.Leu202=) rs79013645
NM_153609.3(TMPRSS6):c.863C>T (p.Ser288Leu) rs5995378
NM_153609.3(TMPRSS6):c.99G>A (p.Pro33=) rs11704654
NM_174936.3(PCSK9):c.*1255_*1258delAAAC rs368406783
NM_174936.3(PCSK9):c.*345C>T rs17111555
NM_174936.3(PCSK9):c.*414C>T rs13376071
NM_174936.3(PCSK9):c.*444G>C rs28362288
NM_174936.3(PCSK9):c.*448dupG rs72646533
NM_174936.3(PCSK9):c.*537delT rs72646535
NM_174936.3(PCSK9):c.*571C>T rs662145
NM_174936.3(PCSK9):c.*614C>T rs17111557
NM_174936.3(PCSK9):c.*75C>T rs28362287
NM_174936.3(PCSK9):c.*849T>C rs28362292
NM_174936.3(PCSK9):c.-245G>T rs28362201
NM_174936.3(PCSK9):c.-26G>A rs28362202
NM_174936.3(PCSK9):c.-64C>T rs45448095
NM_174936.3(PCSK9):c.1026A>G (p.Gln342=) rs509504
NM_174936.3(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261
NM_174936.3(PCSK9):c.1326C>T (p.Ala442=) rs28362262
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263
NM_174936.3(PCSK9):c.1380A>G (p.Val460=) rs540796
NM_174936.3(PCSK9):c.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.1420G>A (p.Val474Ile) rs562556
NM_174936.3(PCSK9):c.158C>T (p.Ala53Val) rs11583680
NM_174936.3(PCSK9):c.2009G>A (p.Gly670Glu) rs505151
NM_174936.3(PCSK9):c.207+15A>G rs2495482
NM_174936.3(PCSK9):c.524-11G>A rs11800231
NM_174936.3(PCSK9):c.657+9G>A rs11800243
NM_174936.3(PCSK9):c.658-7C>T rs2483205
NM_174936.3(PCSK9):c.705C>T (p.Ser235=) rs7552471
NM_174936.3(PCSK9):c.720C>T (p.Gly240=) rs41297883
NM_174936.3(PCSK9):c.753C>T (p.Arg251=) rs28385710
NM_174936.3(PCSK9):c.799+3A>G rs2495477
NM_182916.3(TRNT1):c.1292T>C (p.Ile431Thr) rs150984011
NM_182916.3(TRNT1):c.27C>T (p.His9=) rs776254990
NM_184041.4(ALDOA):c.1038C>T (p.Ser346=) rs77290575
NM_198253.2(TERT):c.*153C>T rs114012142
NM_198253.2(TERT):c.*63C>T rs5031049
NM_198253.2(TERT):c.1068C>T (p.Gly356=) rs1224933352
NM_198253.2(TERT):c.1119A>C (p.Pro373=) rs747342234
NM_198253.2(TERT):c.1143C>T (p.Arg381=) rs878855298
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.1269C>T (p.Ala423=) rs190411812
NM_198253.2(TERT):c.1287G>A (p.Glu429=) rs1060504790
NM_198253.2(TERT):c.129C>T (p.Asp43=) rs772537721
NM_198253.2(TERT):c.12T>C (p.Ala4=) rs1060504797
NM_198253.2(TERT):c.1314C>T (p.Pro438=) rs1246997503
NM_198253.2(TERT):c.1317_1319GGA[2] (p.Glu441del) rs377639087
NM_198253.2(TERT):c.1365C>T (p.His455=) rs904892356
NM_198253.2(TERT):c.1389C>T (p.Gly463=) rs1554042821
NM_198253.2(TERT):c.1437C>T (p.Gly479=) rs1378108036
NM_198253.2(TERT):c.1449C>T (p.Asn483=) rs761174773
NM_198253.2(TERT):c.1458C>T (p.Arg486=) rs1554042806
NM_198253.2(TERT):c.1465A>C (p.Arg489=) rs201990815
NM_198253.2(TERT):c.1476G>A (p.Lys492=) rs1060504789
NM_198253.2(TERT):c.1489C>T (p.Leu497=) rs747756167
NM_198253.2(TERT):c.1533G>A (p.Lys511=) rs1554042793
NM_198253.2(TERT):c.1560G>A (p.Leu520=) rs753991999
NM_198253.2(TERT):c.1563C>T (p.Arg521=) rs764171875
NM_198253.2(TERT):c.1564A>C (p.Arg522=) rs200864183
NM_198253.2(TERT):c.1574-8C>T rs957049391
NM_198253.2(TERT):c.1656C>T (p.Tyr552=) rs143789839
NM_198253.2(TERT):c.1659C>T (p.Val553=) rs35809415
NM_198253.2(TERT):c.1662C>G (p.Val554=) rs200539091
NM_198253.2(TERT):c.1662C>T (p.Val554=) rs200539091
NM_198253.2(TERT):c.1728C>T (p.Tyr576=) rs1554041291
NM_198253.2(TERT):c.1731G>C (p.Arg577=) rs143585580
NM_198253.2(TERT):c.1769+8A>T rs763457117
NM_198253.2(TERT):c.1812A>G (p.Ala604=) rs33959226
NM_198253.2(TERT):c.1836C>G (p.Ala612=) rs34170122
NM_198253.2(TERT):c.1849C>T (p.Leu617=) rs140951453
NM_198253.2(TERT):c.1854G>A (p.Thr618=) rs746040728
NM_198253.2(TERT):c.1896G>A (p.Pro632=) rs140056333
NM_198253.2(TERT):c.189G>A (p.Arg63=) rs1554043134
NM_198253.2(TERT):c.1914C>T (p.Tyr638=) rs541931572
NM_198253.2(TERT):c.1917C>A (p.Val639=) rs142989562
NM_198253.2(TERT):c.1917C>T (p.Val639=) rs142989562
NM_198253.2(TERT):c.192G>A (p.Pro64=) rs930445607
NM_198253.2(TERT):c.1932G>A (p.Thr644=) rs148582238
NM_198253.2(TERT):c.1939A>C (p.Arg647=) rs144821759
NM_198253.2(TERT):c.1950+10C>T rs33948291
NM_198253.2(TERT):c.1951-5G>A rs770214413
NM_198253.2(TERT):c.1951-6C>T rs200461281
NM_198253.2(TERT):c.1953C>T (p.Ala651=) rs201088708
NM_198253.2(TERT):c.1968G>A (p.Ser656=) rs368784316
NM_198253.2(TERT):c.1974G>A (p.Val658=) rs778496417
NM_198253.2(TERT):c.1983G>A (p.Leu661=) rs375454175
NM_198253.2(TERT):c.1989C>T (p.Ser663=) rs763907027
NM_198253.2(TERT):c.2001C>T (p.Tyr667=) rs758494245
NM_198253.2(TERT):c.2007G>C (p.Arg669=) rs1060504788
NM_198253.2(TERT):c.2010G>A (p.Ala670=) rs759843505
NM_198253.2(TERT):c.2013G>A (p.Arg671=) rs34625402
NM_198253.2(TERT):c.2016C>T (p.Arg672=) rs1283231300
NM_198253.2(TERT):c.2019C>T (p.Pro673=) rs762941707
NM_198253.2(TERT):c.2052C>T (p.Asp684=) rs768948796
NM_198253.2(TERT):c.2079C>T (p.Phe693=) rs371759577
NM_198253.2(TERT):c.2091G>A (p.Val697=) rs377436842
NM_198253.2(TERT):c.2106G>A (p.Pro702=) rs151055240
NM_198253.2(TERT):c.2118G>A (p.Leu706=) rs377030225
NM_198253.2(TERT):c.2127C>G (p.Val709=) rs765264494
NM_198253.2(TERT):c.2130+10G>A rs373879259
NM_198253.2(TERT):c.2130+9C>T rs769050926
NM_198253.2(TERT):c.2131-4A>C rs1030149805
NM_198253.2(TERT):c.2145C>A (p.Gly715=) rs769467251
NM_198253.2(TERT):c.2151C>T (p.Tyr717=) rs147261325
NM_198253.2(TERT):c.2157C>G (p.Thr719=) rs1554040905
NM_198253.2(TERT):c.2169C>T (p.Asp723=) rs368762140
NM_198253.2(TERT):c.2178G>A (p.Thr726=) rs199422288
NM_198253.2(TERT):c.219+7C>T rs573817924
NM_198253.2(TERT):c.2190C>T (p.Ala730=) rs138128892
NM_198253.2(TERT):c.2205C>A (p.Pro735=) rs772650889
NM_198253.2(TERT):c.2214G>A (p.Thr738=) rs200858212
NM_198253.2(TERT):c.2220C>T (p.Cys740=) rs769553764
NM_198253.2(TERT):c.2256T>C (p.His752=) rs745650751
NM_198253.2(TERT):c.2262C>T (p.His754=) rs778622091
NM_198253.2(TERT):c.2283C>T (p.Ser761=) rs370808390
NM_198253.2(TERT):c.2287-6C>T rs758808508
NM_198253.2(TERT):c.2301A>G (p.Thr767=) rs374592280
NM_198253.2(TERT):c.2307C>G (p.Leu769=) rs117662357
NM_198253.2(TERT):c.2307C>T (p.Leu769=) rs117662357
NM_198253.2(TERT):c.2313G>A (p.Pro771=) rs199770141
NM_198253.2(TERT):c.2355G>A (p.Pro785=) rs545260840
NM_198253.2(TERT):c.2356C>T (p.Leu786=) rs1488050310
NM_198253.2(TERT):c.2383-15C>T rs574645600
NM_198253.2(TERT):c.2383-4G>A rs761513215
NM_198253.2(TERT):c.2383-5C>T rs373488315
NM_198253.2(TERT):c.2391C>G (p.Ser797=) rs377216965
NM_198253.2(TERT):c.2418C>T (p.Phe806=) rs372497245
NM_198253.2(TERT):c.2448C>T (p.His816=) rs368279364
NM_198253.2(TERT):c.2468+10G>T rs878855301
NM_198253.2(TERT):c.2475C>T (p.Tyr825=) rs141382603
NM_198253.2(TERT):c.2517G>A (p.Thr839=) rs140124989
NM_198253.2(TERT):c.2520G>A (p.Leu840=) rs144310369
NM_198253.2(TERT):c.2523C>G (p.Leu841=) rs1554039733
NM_198253.2(TERT):c.2538C>T (p.Tyr846=) rs778309923
NM_198253.2(TERT):c.2565G>A (p.Ala855=) rs769077049
NM_198253.2(TERT):c.2577G>C (p.Arg859=) rs1554039723
NM_198253.2(TERT):c.2580C>T (p.Asp860=) rs751752830
NM_198253.2(TERT):c.2582+11C>T rs180675821
NM_198253.2(TERT):c.2582+7C>A rs766415474
NM_198253.2(TERT):c.2583-7A>G rs1060504796
NM_198253.2(TERT):c.2596T>C (p.Leu866=) rs1060504798
NM_198253.2(TERT):c.2640G>A (p.Ala880=) rs754776542
NM_198253.2(TERT):c.2652C>T (p.Leu884=) rs374309472
NM_198253.2(TERT):c.2654+10G>A rs375473823
NM_198253.2(TERT):c.2654+9C>T rs1060504793
NM_198253.2(TERT):c.2655-9delC rs1060504795
NM_198253.2(TERT):c.2701C>A (p.Arg901=) rs199422304
NM_198253.2(TERT):c.2733C>T (p.Asp911=) rs768646695
NM_198253.2(TERT):c.2736G>A (p.Glu912=) rs775289969
NM_198253.2(TERT):c.2740C>T (p.Leu914=) rs1554039274
NM_198253.2(TERT):c.2751G>A (p.Thr917=) rs375200599
NM_198253.2(TERT):c.2772C>T (p.Ala924=) rs367672336
NM_198253.2(TERT):c.2775C>T (p.His925=) rs34528119
NM_198253.2(TERT):c.2793C>T (p.Cys931=) rs764925909
NM_198253.2(TERT):c.2802G>T (p.Leu934=) rs201322872
NM_198253.2(TERT):c.2823G>A (p.Glu941=) rs1554039257
NM_198253.2(TERT):c.2843+7G>A rs368429405
NM_198253.2(TERT):c.2886C>T (p.Arg962=) rs542440625
NM_198253.2(TERT):c.2895G>A (p.Lys965=) rs878855302
NM_198253.2(TERT):c.2901G>A (p.Gly967=) rs1554038813
NM_198253.2(TERT):c.2938C>T (p.Leu980=) rs1554038808
NM_198253.2(TERT):c.2946T>C (p.Cys982=) rs201689770
NM_198253.2(TERT):c.2970+7A>G rs530914674
NM_198253.2(TERT):c.2971-10G>T rs878855303
NM_198253.2(TERT):c.2973G>A (p.Val991=) rs1554038546
NM_198253.2(TERT):c.297C>T (p.Phe99=) rs746607875
NM_198253.2(TERT):c.2991G>A (p.Val997=) rs376266401
NM_198253.2(TERT):c.3006C>T (p.Tyr1002=) rs760659103
NM_198253.2(TERT):c.3032+7C>T rs371500615
NM_198253.2(TERT):c.3063T>C (p.Phe1021=) rs1554038261
NM_198253.2(TERT):c.3090A>G (p.Thr1030=) rs1060504787
NM_198253.2(TERT):c.3105C>T (p.Val1035=) rs181612536
NM_198253.2(TERT):c.3165G>A (p.Ser1055=) rs554739019
NM_198253.2(TERT):c.3183C>T (p.Ala1061=) rs769532174
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.2(TERT):c.3186C>T (p.Ala1062=) rs201067706
NM_198253.2(TERT):c.3201C>T (p.Ser1067=) rs755223754
NM_198253.2(TERT):c.3207C>T (p.Ala1069=) rs376835357
NM_198253.2(TERT):c.3240C>T (p.Leu1080=) rs758469915
NM_198253.2(TERT):c.3252A>G (p.Arg1084=) rs757638312
NM_198253.2(TERT):c.3255C>T (p.His1085=) rs953571477
NM_198253.2(TERT):c.327G>A (p.Gly109=) rs1060504786
NM_198253.2(TERT):c.3296-4G>A rs780229179
NM_198253.2(TERT):c.3303G>A (p.Thr1101=) rs551516320
NM_198253.2(TERT):c.3330G>A (p.Thr1110=) rs772311888
NM_198253.2(TERT):c.3333G>A (p.Thr1111=) rs200102606
NM_198253.2(TERT):c.3336G>C (p.Leu1112=) rs1554038061
NM_198253.2(TERT):c.3351C>T (p.Ala1117=) rs192377676
NM_198253.2(TERT):c.3363G>A (p.Pro1121=) rs750020682
NM_198253.2(TERT):c.3369G>A (p.Leu1123=) rs529179931
NM_198253.2(TERT):c.339G>A (p.Glu113=) rs757141480
NM_198253.2(TERT):c.351C>T (p.Thr117=) rs1554043084
NM_198253.2(TERT):c.391C>T (p.Leu131=) rs1018793583
NM_198253.2(TERT):c.393G>A (p.Leu131=) rs752876848
NM_198253.2(TERT):c.399G>C (p.Gly133=) rs767592753
NM_198253.2(TERT):c.444G>C (p.Val148=) rs1314321999
NM_198253.2(TERT):c.45C>T (p.Arg15=) rs750133706
NM_198253.2(TERT):c.481C>T (p.Leu161=) rs368291455
NM_198253.2(TERT):c.492C>T (p.Pro164=) rs751568040
NM_198253.2(TERT):c.513C>T (p.Cys171=) rs890346822
NM_198253.2(TERT):c.519G>A (p.Pro173=) rs763396974
NM_198253.2(TERT):c.522G>T (p.Pro174=) rs773784305
NM_198253.2(TERT):c.54C>T (p.Tyr18=) rs1060504792
NM_198253.2(TERT):c.555G>C (p.Arg185=) rs777633830
NM_198253.2(TERT):c.572G>C (p.Ser191Thr) rs11952056
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198253.2(TERT):c.606C>T (p.Ala202=) rs1060504785
NM_198253.2(TERT):c.633G>T (p.Gly211=) rs1060504794
NM_198253.2(TERT):c.645C>T (p.Gly215=) rs768426236
NM_198253.2(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.2(TERT):c.669G>A (p.Arg223=) rs1060504791
NM_198253.2(TERT):c.687C>T (p.Ser229=) rs1554043016
NM_198253.2(TERT):c.699G>A (p.Pro233=) rs757862712
NM_198253.2(TERT):c.729C>T (p.Ala243=) rs762491880
NM_198253.2(TERT):c.810C>T (p.Phe270=) rs369812320
NM_198253.2(TERT):c.838G>A (p.Glu280Lys) rs199701877
NM_198253.2(TERT):c.855G>A (p.Leu285=) rs372185671
NM_198253.2(TERT):c.867C>T (p.Leu289=) rs771194908
NM_198253.2(TERT):c.885C>T (p.Ser295=) rs367957748
NM_198253.2(TERT):c.897G>T (p.Val299=) rs1554042926
NM_198253.2(TERT):c.918C>A (p.Gly306=) rs919921930
NM_198253.2(TERT):c.936G>A (p.Arg312=) rs1207164857
NM_198253.2(TERT):c.939A>G (p.Pro313=) rs1554042914
NM_198253.2(TERT):c.942A>G (p.Pro314=) rs1060504784
NM_206965.2(FTCD):c.1050C>G (p.Arg350=) rs138803850
NM_206965.2(FTCD):c.1313C>T (p.Ala438Val) rs61735841
NM_206965.2(FTCD):c.1409G>A (p.Arg470Gln) rs61735839
NM_206965.2(FTCD):c.301G>A (p.Val101Met) rs61735836
NM_206965.2(FTCD):c.407G>A (p.Arg136Gln) rs149596485
NM_206965.2(FTCD):c.452A>T (p.Lys151Met) rs116089237
NM_206965.2(FTCD):c.906+15C>T rs76474184
NM_206965.2(FTCD):c.906+8G>A rs375796852

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