ClinVar Miner

List of variants studied for anemia (disease) by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3308
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.*105A>C rs15869
NM_000059.3(BRCA2):c.*172G>A rs574944914
NM_000059.3(BRCA2):c.*248T>C rs542356535
NM_000059.3(BRCA2):c.*292A>C rs886050112
NM_000059.3(BRCA2):c.*295C>G rs11571834
NM_000059.3(BRCA2):c.*345A>G rs886050113
NM_000059.3(BRCA2):c.*360dupC rs886050114
NM_000059.3(BRCA2):c.*369A>G rs7334543
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.*399T>C rs886050115
NM_000059.3(BRCA2):c.*416G>T rs886050116
NM_000059.3(BRCA2):c.*50A>G rs761312704
NM_000059.3(BRCA2):c.*532A>G rs11571836
NM_000059.3(BRCA2):c.*545T>C rs536333595
NM_000059.3(BRCA2):c.*675C>A rs886050117
NM_000059.3(BRCA2):c.*696G>A rs886050118
NM_000059.3(BRCA2):c.*753C>T rs190094748
NM_000059.3(BRCA2):c.*839T>C rs76358429
NM_000059.3(BRCA2):c.*839delT rs75353978
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.-210A>G rs886050111
NM_000059.3(BRCA2):c.-26G>A rs1799943
NM_000059.3(BRCA2):c.-52A>G rs206118
NM_000059.3(BRCA2):c.-59_-57delGAA rs545321666
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.3(BRCA2):c.1365A>G (p.Ser455=) rs1801439
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.2229T>C (p.His743=) rs1801499
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.2526A>G (p.Val842=) rs770778164
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.267G>A (p.Pro89=) rs587780648
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.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545
NM_000059.3(BRCA2):c.316+13A>G rs773097109
NM_000059.3(BRCA2):c.323A>G (p.Asn108Ser) rs80358568
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3396A>G (p.Lys1132=) rs1801406
NM_000059.3(BRCA2):c.3415A>C (p.Lys1139Gln) rs747903103
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3495T>C (p.His1165=) rs776655838
NM_000059.3(BRCA2):c.3497T>A (p.Val1166Asp) rs762886975
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.3807T>C (p.Val1269=) rs543304
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.4563A>G (p.Leu1521=) rs206075
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.5225A>T (p.Asn1742Ile) rs756463217
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
NM_000059.3(BRCA2):c.5319G>A (p.Glu1773=) rs376257217
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.561G>A (p.Glu187=) rs754678843
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.6237G>A (p.Val2079=) rs864622516
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.6513G>C (p.Val2171=) rs206076
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.7242A>G (p.Ser2414=) rs1799955
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7435+10G>A rs81002793
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.7806-14T>C rs9534262
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
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.8530G>A (p.Glu2844Lys) rs755783122
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.3(BRCA2):c.8825C>T (p.Ala2942Val) rs373227180
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.9032T>C (p.Leu3011Pro) rs80359155
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.909T>G (p.Ser303=) rs757430441
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.963A>G (p.Gln321=) rs276174927
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.1902+6G>C rs9332730
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_000064.3(C3):c.2048-14_2048-13del rs140718871
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.1164C>T (p.Pro388=) rs769368306
NM_000064.4(C3):c.1269+14C>A rs886054655
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.1554C>A (p.Pro518=) rs2230203
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.1692G>A (p.Val564=) rs2230204
NM_000064.4(C3):c.1758G>A (p.Glu586=) rs764201055
NM_000064.4(C3):c.1767C>T (p.His589=) rs775843240
NM_000064.4(C3):c.1819A>G (p.Lys607Glu) rs140637006
NM_000064.4(C3):c.1836G>A (p.Thr612=) rs2230205
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.2246-8C>T rs406514
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657
NM_000064.4(C3):c.2403G>A (p.Thr801=) rs886054654
NM_000064.4(C3):c.2421G>C (p.Val807=) rs428453
NM_000064.4(C3):c.2430G>A (p.Ser810=) rs2230207
NM_000064.4(C3):c.2450T>A (p.Val817Glu) rs886054653
NM_000064.4(C3):c.2700C>G (p.Ile900Met) rs763155610
NM_000064.4(C3):c.2715C>T (p.Thr905=) rs2230208
NM_000064.4(C3):c.2745T>C (p.Ala915=) rs423490
NM_000064.4(C3):c.2799G>A (p.Pro933=) rs149209011
NM_000064.4(C3):c.2857G>A (p.Gly953Ser) rs779124363
NM_000064.4(C3):c.2863+7C>T rs2287845
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609
NM_000064.4(C3):c.2907C>T (p.Asp969=) rs144672500
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro) rs750654763
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534
NM_000064.4(C3):c.3687C>T (p.Asn1229=) rs201108539
NM_000064.4(C3):c.3753C>A (p.Pro1251=) rs2230209
NM_000064.4(C3):c.3993A>G (p.Thr1331=) rs202210310
NM_000064.4(C3):c.4030-4C>T rs372612816
NM_000064.4(C3):c.4095C>G (p.Val1365=) rs527830114
NM_000064.4(C3):c.4120+8G>T rs886054652
NM_000064.4(C3):c.4311C>T (p.Ala1437=) rs7951
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala) rs147116781
NM_000064.4(C3):c.443G>A (p.Arg148Gln) rs886054657
NM_000064.4(C3):c.4457-4G>A rs2277984
NM_000064.4(C3):c.4457-5C>T rs344554
NM_000064.4(C3):c.4535G>A (p.Arg1512His) rs142868256
NM_000064.4(C3):c.4631-8C>T rs11569565
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.4759C>T (p.Pro1587Ser) rs746985605
NM_000064.4(C3):c.4767G>A (p.Lys1589=) rs144589541
NM_000064.4(C3):c.4803C>T (p.His1601=) rs762332809
NM_000064.4(C3):c.4827C>T (p.Ser1609=) rs150537373
NM_000064.4(C3):c.4850+12C>A rs748416799
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210
NM_000064.4(C3):c.4896C>T (p.Pro1632=) rs17030
NM_000064.4(C3):c.4941G>A (p.Gln1647=) rs780251209
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726
NM_000064.4(C3):c.600-14C>T rs3745558
NM_000064.4(C3):c.681C>T (p.Tyr227=) rs756694755
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_000064.4(C3):c.819C>T (p.Phe273=) rs886054656
NM_000064.4(C3):c.912G>A (p.Arg304=) rs2230201
NM_000064.4(C3):c.941C>T (p.Pro314Leu) rs1047286
NM_000096.3(CP):c.-165C>T rs536533840
NM_000096.3(CP):c.-183T>C rs185578646
NM_000096.3(CP):c.-199C>G rs772691705
NM_000096.3(CP):c.2286-4dupT rs561633350
NM_000096.4(CP):c.*1081T>A rs188137938
NM_000096.4(CP):c.*1157C>T rs11537809
NM_000096.4(CP):c.*137C>T rs34228141
NM_000096.4(CP):c.*343A>G rs886058085
NM_000096.4(CP):c.*373C>G rs370247691
NM_000096.4(CP):c.*509A>C rs13098532
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*768T>C rs35805816
NM_000096.4(CP):c.*769G>A rs1053669
NM_000096.4(CP):c.*828dup rs35907111
NM_000096.4(CP):c.*879A>C rs144029944
NM_000096.4(CP):c.*912C>G rs149920453
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984
NM_000096.4(CP):c.1104G>C (p.Gly368=) rs142503847
NM_000096.4(CP):c.1191C>G (p.Asn397Lys) rs146229133
NM_000096.4(CP):c.1209-15T>A rs35465173
NM_000096.4(CP):c.1217C>A (p.Ala406Glu) rs147034302
NM_000096.4(CP):c.125A>G (p.Lys42Arg) rs886058090
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139
NM_000096.4(CP):c.1309A>G (p.Lys437Glu) rs764238637
NM_000096.4(CP):c.1348+9T>C rs35272481
NM_000096.4(CP):c.1349-13T>C rs17847017
NM_000096.4(CP):c.1380C>T (p.Thr460=) rs149790356
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000096.4(CP):c.1493A>G (p.Gln498Arg) rs17847018
NM_000096.4(CP):c.151C>T (p.His51Tyr) rs150681942
NM_000096.4(CP):c.1575A>G (p.Val525=) rs760634973
NM_000096.4(CP):c.164A>G (p.Tyr55Cys) rs756029950
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000096.4(CP):c.1713+3A>G rs372361874
NM_000096.4(CP):c.1774C>G (p.Leu592Val) rs200226362
NM_000096.4(CP):c.1774C>T (p.Leu592Phe) rs200226362
NM_000096.4(CP):c.1864+1G>C rs1559942361
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709
NM_000096.4(CP):c.2180T>C (p.Phe727Ser) rs886058087
NM_000096.4(CP):c.2266C>A (p.His756Asn) rs773420516
NM_000096.4(CP):c.2286-12T>G rs183671127
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.2286-15del rs143522213
NM_000096.4(CP):c.2310G>A (p.Lys770=) rs553883583
NM_000096.4(CP):c.2554+14C>G rs200965170
NM_000096.4(CP):c.2557G>A (p.Glu853Lys) rs886058086
NM_000096.4(CP):c.2565C>T (p.Leu855=) rs781672409
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771
NM_000096.4(CP):c.2662-12T>C rs16861582
NM_000096.4(CP):c.2662-14T>C rs189155564
NM_000096.4(CP):c.2697T>C (p.Val899=) rs17847022
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) rs187293972
NM_000096.4(CP):c.3182-4A>G rs34272112
NM_000096.4(CP):c.347C>A (p.Pro116His) rs73866999
NM_000096.4(CP):c.508G>A (p.Gly170Arg) rs886058089
NM_000096.4(CP):c.669G>C (p.Val223=) rs35438054
NM_000096.4(CP):c.701A>G (p.Asp234Gly) rs769311718
NM_000096.4(CP):c.782-14C>T rs34067682
NM_000096.4(CP):c.788A>G (p.Asn263Ser) rs150303869
NM_000096.4(CP):c.850T>C (p.Tyr284His) rs886058088
NM_000096.4(CP):c.921G>A (p.Lys307=) rs543777038
NM_000096.4(CP):c.938C>T (p.Thr313Ile) rs144401501
NM_000096.4(CP):c.93G>A (p.Thr31=) rs201521886
NM_000096.4(CP):c.944A>G (p.Asn315Ser) rs370682704
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025
NM_000119.3(EPB42):c.100+1G>A rs150530456
NM_000119.3(EPB42):c.1699G>A (p.Ala567Thr) rs45495503
NM_000119.3(EPB42):c.1772del (p.Phe591fs) rs775832353
NM_000135.2(FANCA):c.2602-9_2602-8delCT rs577636020
NM_000135.4(FANCA):c.*1011C>T rs17227452
NM_000135.4(FANCA):c.*1012A>G rs886052477
NM_000135.4(FANCA):c.*146C>T rs556325258
NM_000135.4(FANCA):c.*154G>A rs1230
NM_000135.4(FANCA):c.*166G>A rs886052479
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.*317G>A rs201817705
NM_000135.4(FANCA):c.*385C>G rs17227424
NM_000135.4(FANCA):c.*447T>C rs771942409
NM_000135.4(FANCA):c.*521C>T rs144644592
NM_000135.4(FANCA):c.*654C>T rs17227438
NM_000135.4(FANCA):c.*672del rs66471129
NM_000135.4(FANCA):c.*673A>G rs62704561
NM_000135.4(FANCA):c.*673del rs17233826
NM_000135.4(FANCA):c.*679T>G rs17233833
NM_000135.4(FANCA):c.*679del rs375657470
NM_000135.4(FANCA):c.*819T>C rs186050933
NM_000135.4(FANCA):c.*843C>T rs201316239
NM_000135.4(FANCA):c.*851G>A rs886052478
NM_000135.4(FANCA):c.*937A>G rs55794507
NM_000135.4(FANCA):c.*986G>A rs16966023
NM_000135.4(FANCA):c.-18G>A rs886038245
NM_000135.4(FANCA):c.-28C>G rs886052490
NM_000135.4(FANCA):c.1007-7C>G rs111271660
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.1209G>A (p.Ala403=) rs773318145
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.1328C>G (p.Ser443Cys) rs367733447
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000135.4(FANCA):c.1360-7C>T rs17232616
NM_000135.4(FANCA):c.1471-12A>G rs9282684
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359
NM_000135.4(FANCA):c.1518C>T (p.Leu506=) rs781524409
NM_000135.4(FANCA):c.1567-11C>A rs34353618
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) rs201323171
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293
NM_000135.4(FANCA):c.1777-15C>G rs371919426
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282
NM_000135.4(FANCA):c.1826+15T>C rs1800337
NM_000135.4(FANCA):c.189+12C>G rs753101174
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1901-9T>G rs886052486
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719
NM_000135.4(FANCA):c.2151+8T>C rs1800340
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly) rs886052485
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.4(FANCA):c.2316+9C>T rs776301232
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr) rs886052484
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2602-14A>C rs886052483
NM_000135.4(FANCA):c.2778+10C>T rs371786839
NM_000135.4(FANCA):c.2779-7T>C rs17233253
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.4(FANCA):c.284-9G>C rs367672895
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.4(FANCA):c.3067-4T>C rs17227064
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp) rs371208490
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3514-13G>A rs200270574
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=) rs886052482
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr) rs886052481
NM_000135.4(FANCA):c.3766-14G>A rs34476949
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=) rs886052480
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.386C>T (p.Ala129Val) rs577625130
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr) rs765162125
NM_000135.4(FANCA):c.3935-6T>C rs368376237
NM_000135.4(FANCA):c.3935-9G>A rs9282680
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=) rs774576283
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His) rs147406377
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro) rs886052488
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.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487
NM_000135.4(FANCA):c.710-12A>G rs1800286
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg) rs886052489
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.4(FANCA):c.793-9T>C rs757500718
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823
NM_000135.4(FANCA):c.894-8A>G rs11648881
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000136.3(FANCC):c.*1045C>T rs537983135
NM_000136.3(FANCC):c.*116A>C rs7048910
NM_000136.3(FANCC):c.*1262T>C rs45520432
NM_000136.3(FANCC):c.*1276C>A rs1057515698
NM_000136.3(FANCC):c.*1288T>C rs4647554
NM_000136.3(FANCC):c.*1332A>G rs191983554
NM_000136.3(FANCC):c.*1339C>T rs144155068
NM_000136.3(FANCC):c.*1359C>G rs1009336483
NM_000136.3(FANCC):c.*143A>G rs189154697
NM_000136.3(FANCC):c.*1483T>C rs552548603
NM_000136.3(FANCC):c.*1495T>G rs41281198
NM_000136.3(FANCC):c.*1516A>G rs541816451
NM_000136.3(FANCC):c.*1727T>C rs4647557
NM_000136.3(FANCC):c.*1871G>A rs4647558
NM_000136.3(FANCC):c.*1879C>T rs192262179
NM_000136.3(FANCC):c.*1895T>C rs56161090
NM_000136.3(FANCC):c.*1895T>G rs56161090
NM_000136.3(FANCC):c.*1968G>A rs114827984
NM_000136.3(FANCC):c.*2052G>C rs539833295
NM_000136.3(FANCC):c.*2085C>A rs4647559
NM_000136.3(FANCC):c.*2128C>T rs567507884
NM_000136.3(FANCC):c.*2271G>A rs562841213
NM_000136.3(FANCC):c.*2296G>A rs561975553
NM_000136.3(FANCC):c.*2305G>A rs562465438
NM_000136.3(FANCC):c.*249C>T rs1046795121
NM_000136.3(FANCC):c.*2528A>G rs1057515696
NM_000136.3(FANCC):c.*254G>A rs773331481
NM_000136.3(FANCC):c.*2552T>C rs9673
NM_000136.3(FANCC):c.*338C>A rs920400068
NM_000136.3(FANCC):c.*359A>G rs4647551
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000136.3(FANCC):c.*450G>A rs149227790
NM_000136.3(FANCC):c.*516T>G rs1004604171
NM_000136.3(FANCC):c.*576C>T rs1057515701
NM_000136.3(FANCC):c.*593C>G rs561885351
NM_000136.3(FANCC):c.*604_*605del rs56271854
NM_000136.3(FANCC):c.*667C>T rs150462386
NM_000136.3(FANCC):c.*715_*718AGTT[2] rs56250966
NM_000136.3(FANCC):c.*825C>A rs1057515700
NM_000136.3(FANCC):c.*884C>T rs1038927110
NM_000136.3(FANCC):c.*97dup rs1057515705
NM_000136.3(FANCC):c.*983C>T rs56059656
NM_000136.3(FANCC):c.-155A>C rs549658720
NM_000136.3(FANCC):c.-172G>T rs1057515706
NM_000136.3(FANCC):c.-225C>T rs182633348
NM_000136.3(FANCC):c.-246A>G rs1000528763
NM_000136.3(FANCC):c.-29A>C rs4647414
NM_000136.3(FANCC):c.1073-5C>T rs375613884
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser) rs201379302
NM_000136.3(FANCC):c.38A>G (p.Gln13Arg) rs199968672
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905
NM_000136.3(FANCC):c.3G>A (p.Met1Ile) rs1368374192
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.456+4A>T rs104886456
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_000136.3(FANCC):c.843+4C>T rs4647506
NM_000178.4(GSS):c.*181C>T rs773689812
NM_000178.4(GSS):c.*2G>A rs36000727
NM_000178.4(GSS):c.*390G>T rs886056639
NM_000178.4(GSS):c.*391A>T rs886056638
NM_000178.4(GSS):c.*69G>T rs200882573
NM_000178.4(GSS):c.*90A>G rs35747685
NM_000178.4(GSS):c.-16G>A rs575728230
NM_000178.4(GSS):c.-18A>G rs886056640
NM_000178.4(GSS):c.-29T>A rs886056641
NM_000178.4(GSS):c.-46A>G rs886056642
NM_000178.4(GSS):c.-63G>C rs192442930
NM_000178.4(GSS):c.-80G>C rs570588543
NM_000178.4(GSS):c.1158G>A (p.Leu386=) rs141866304
NM_000178.4(GSS):c.1186A>G (p.Ile396Val) rs771438550
NM_000178.4(GSS):c.1203C>T (p.Ile401=) rs138574949
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln) rs150141794
NM_000178.4(GSS):c.1260C>G (p.Val420=) rs369657861
NM_000178.4(GSS):c.448G>A (p.Ala150Thr) rs549377370
NM_000178.4(GSS):c.491G>A (p.Arg164Gln) rs121909307
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000178.4(GSS):c.754C>T (p.Arg252Ter) rs749741013
NM_000178.4(GSS):c.768-3C>T rs184506175
NM_000178.4(GSS):c.834+4G>C rs201359061
NM_000178.4(GSS):c.957G>A (p.Met319Ile) rs202181009
NM_000186.3(CFH):c.*14G>A rs463726
NM_000186.3(CFH):c.*178T>A rs488738
NM_000186.3(CFH):c.*98C>T rs35742764
NM_000186.3(CFH):c.-124G>T rs527444515
NM_000186.3(CFH):c.-175T>C rs762143457
NM_000186.3(CFH):c.-195T>C rs35836460
NM_000186.3(CFH):c.-36G>C rs140356702
NM_000186.3(CFH):c.-61A>G rs886045741
NM_000186.3(CFH):c.-79A>G rs35906110
NM_000186.3(CFH):c.103G>A (p.Gly35Ser) rs886045742
NM_000186.3(CFH):c.1160-15T>C rs34815383
NM_000186.3(CFH):c.1204C>T (p.His402Tyr) rs1061170
NM_000186.3(CFH):c.1419G>A (p.Ala473=) rs2274700
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.184G>A (p.Val62Ile) rs800292
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.2016A>G (p.Gln672=) rs3753396
NM_000186.3(CFH):c.2196G>A (p.Thr732=) rs144325643
NM_000186.3(CFH):c.2215A>G (p.Thr739Ala) rs886045745
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.2542G>A (p.Gly848Arg) rs886045746
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.2669G>T (p.Ser890Ile) rs515299
NM_000186.3(CFH):c.275C>T (p.Pro92Leu) rs886045743
NM_000186.3(CFH):c.2784C>A (p.Gly928=) rs755926856
NM_000186.3(CFH):c.2808G>T (p.Glu936Asp) rs1065489
NM_000186.3(CFH):c.2850G>T (p.Gln950His) rs149474608
NM_000186.3(CFH):c.285T>C (p.Thr95=) rs148182625
NM_000186.3(CFH):c.2867C>T (p.Thr956Met) rs145975787
NM_000186.3(CFH):c.2957-7A>G rs190778135
NM_000186.3(CFH):c.3004G>C (p.Gly1002Arg) rs201816520
NM_000186.3(CFH):c.3019G>T (p.Val1007Leu) rs534399
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.3134-7T>C rs779166622
NM_000186.3(CFH):c.3138C>T (p.Thr1046=) rs61822181
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.3310+12T>C rs757045842
NM_000186.3(CFH):c.3427C>G (p.Gln1143Glu) rs15809
NM_000186.3(CFH):c.350+9T>C rs201686629
NM_000186.3(CFH):c.428-14T>C rs184188486
NM_000186.3(CFH):c.428-3C>T rs886045744
NM_000186.3(CFH):c.477T>C (p.Ser159=) rs34940854
NM_000186.3(CFH):c.770G>A (p.Arg257His) rs140107330
NM_000186.3(CFH):c.921A>C (p.Ala307=) rs1061147
NM_000204.4(CFI):c.*112C>T rs551
NM_000204.4(CFI):c.*144T>C rs77449037
NM_000204.4(CFI):c.*214A>G rs28361433
NM_000204.4(CFI):c.*7G>T rs80173133
NM_000204.4(CFI):c.-13G>A rs113612355
NM_000204.4(CFI):c.-98T>C rs886058984
NM_000204.4(CFI):c.1044+8C>T rs190420174
NM_000204.4(CFI):c.1044+9G>A rs568070697
NM_000204.4(CFI):c.1112G>T (p.Gly371Val) rs763931500
NM_000204.4(CFI):c.1206C>T (p.Pro402=) rs115780371
NM_000204.4(CFI):c.1217G>A (p.Arg406His) rs74817407
NM_000204.4(CFI):c.1246A>C (p.Ile416Leu) rs61733901
NM_000204.4(CFI):c.129C>T (p.Cys43=) rs146462954
NM_000204.4(CFI):c.1322A>G (p.Lys441Arg) rs41278047
NM_000204.4(CFI):c.1381T>C (p.Phe461Leu) rs886058983
NM_000204.4(CFI):c.1410T>C (p.Ser470=) rs200068862
NM_000204.4(CFI):c.1429+5A>G rs771786368
NM_000204.4(CFI):c.1429+8T>C rs184313022
NM_000204.4(CFI):c.1429G>C (p.Asp477His) rs754972981
NM_000204.4(CFI):c.1443C>T (p.Val481=) rs114091883
NM_000204.4(CFI):c.1516A>C (p.Lys506Gln) rs886058982
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.309C>T (p.Asn103=) rs761425840
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.405T>C (p.Asp135=) rs375792874
NM_000204.4(CFI):c.482+14T>A rs76014294
NM_000204.4(CFI):c.482+6C>T rs79375065
NM_000204.4(CFI):c.540A>G (p.Glu180=) rs759777516
NM_000204.4(CFI):c.559C>T (p.Arg187Ter) rs368615806
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.804G>A (p.Ser268=) rs2298749
NM_000204.4(CFI):c.884-7T>C rs140555685
NM_000204.4(CFI):c.905-3T>C rs377535161
NM_000204.4(CFI):c.916A>G (p.Ile306Val) rs113273712
NM_000229.2(LCAT):c.*12T>C rs886052219
NM_000229.2(LCAT):c.1039C>T (p.Arg347Cys) rs202017590
NM_000229.2(LCAT):c.1177C>T (p.Leu393=) rs5923
NM_000229.2(LCAT):c.159C>T (p.Pro53=) rs556480808
NM_000229.2(LCAT):c.367C>T (p.Arg123Cys) rs140068549
NM_000229.2(LCAT):c.534G>T (p.Glu178Asp) rs886052220
NM_000229.2(LCAT):c.748+13C>G rs750086555
NM_000229.2(LCAT):c.981A>C (p.Gly327=) rs139453193
NM_000253.3(MTTP):c.*1044G>T rs886058965
NM_000253.3(MTTP):c.*1046C>G rs1061271
NM_000253.3(MTTP):c.*1118C>T rs144013236
NM_000253.3(MTTP):c.*183C>T rs74542928
NM_000253.3(MTTP):c.*279C>G rs115807483
NM_000253.3(MTTP):c.*382T>C rs556994625
NM_000253.3(MTTP):c.*41A>G rs886058959
NM_000253.3(MTTP):c.*454dup rs545365701
NM_000253.3(MTTP):c.*490_*494del rs886058963
NM_000253.3(MTTP):c.*506A>G rs6832119
NM_000253.3(MTTP):c.*517A>T rs886058964
NM_000253.3(MTTP):c.*55G>C rs192882987
NM_000253.3(MTTP):c.*694A>C rs187658213
NM_000253.3(MTTP):c.*82G>A rs886058960
NM_000253.3(MTTP):c.*862C>A rs6832927
NM_000253.3(MTTP):c.*989T>C rs183510498
NM_000253.3(MTTP):c.*98T>A rs886058961
NM_000253.3(MTTP):c.-149C>A rs886058955
NM_000253.3(MTTP):c.-153C>G rs886058954
NM_000253.3(MTTP):c.-205G>A rs886058953
NM_000253.3(MTTP):c.-214G>A rs569667113
NM_000253.3(MTTP):c.-241G>A rs11944752
NM_000253.3(MTTP):c.-252G>C rs11944749
NM_000253.3(MTTP):c.-28T>C rs886058956
NM_000253.3(MTTP):c.-54C>T rs181769817
NM_000253.3(MTTP):c.-6G>A rs41275707
NM_000253.3(MTTP):c.-82C>T rs767201629
NM_000253.3(MTTP):c.-84T>C rs761717058
NM_000253.3(MTTP):c.1016C>T (p.Ala339Val) rs137956833
NM_000253.3(MTTP):c.1023A>G (p.Lys341=) rs145724674
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.1477G>T (p.Ala493Ser) rs758939873
NM_000253.3(MTTP):c.1557+7T>A rs142706742
NM_000253.3(MTTP):c.1769+14C>T rs41275713
NM_000253.3(MTTP):c.1769+3A>G rs375993709
NM_000253.3(MTTP):c.1769+9C>T rs34734558
NM_000253.3(MTTP):c.1888A>G (p.Thr630Ala) rs368679444
NM_000253.3(MTTP):c.1981G>A (p.Gly661Ser) rs113337987
NM_000253.3(MTTP):c.2041G>A (p.Glu681Lys) rs886058958
NM_000253.3(MTTP):c.2043G>A (p.Glu681=) rs145444300
NM_000253.3(MTTP):c.2167G>A (p.Asp723Asn) rs371023325
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.383T>C (p.Ile128Thr) rs3816873
NM_000253.3(MTTP):c.394-7C>T rs368989581
NM_000253.3(MTTP):c.39C>G (p.Ser13=) rs7667001
NM_000253.3(MTTP):c.453T>C (p.Gly151=) rs991811
NM_000253.3(MTTP):c.490A>G (p.Thr164Ala) rs563558722
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.522T>C (p.Cys174=) rs982424
NM_000253.3(MTTP):c.660T>C (p.Tyr220=) rs113557405
NM_000253.3(MTTP):c.695C>T (p.Ala232Val) rs748108500
NM_000253.3(MTTP):c.730C>G (p.Gln244Glu) rs17599091
NM_000253.3(MTTP):c.799T>C (p.Leu267=) rs7672497
NM_000253.3(MTTP):c.833A>G (p.Lys278Arg) rs886058957
NM_000253.3(MTTP):c.891C>G (p.His297Gln) rs2306985
NM_000253.3(MTTP):c.901T>C (p.Cys301Arg) rs759706918
NM_000253.3(MTTP):c.933C>A (p.Thr311=) rs17029213
NM_000253.3(MTTP):c.969T>C (p.Ala323=) rs17533489
NM_000289.6(PFKM):c.*134G>A rs886049456
NM_000289.6(PFKM):c.*3C>T rs367783282
NM_000289.6(PFKM):c.*489T>A rs886049457
NM_000289.6(PFKM):c.*503G>T rs747797192
NM_000289.6(PFKM):c.*622G>A rs568063197
NM_000289.6(PFKM):c.*98G>A rs886049455
NM_000289.6(PFKM):c.-112T>G rs12306290
NM_000289.6(PFKM):c.-171C>A rs41291959
NM_000289.6(PFKM):c.-174G>A rs765876195
NM_000289.6(PFKM):c.-176C>T rs886049451
NM_000289.6(PFKM):c.-177G>C rs78512814
NM_000289.6(PFKM):c.-64C>T rs886049452
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) rs762357629
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.1342-14G>T rs56117548
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2093-14A>G rs11168427
NM_000289.6(PFKM):c.2199-12A>G rs202008060
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000289.6(PFKM):c.360C>T (p.Gly120=) rs886049453
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392
NM_000289.6(PFKM):c.638+15C>A rs376150217
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881
NM_000298.6(PKLR):c.*1040G>A rs8847
NM_000298.6(PKLR):c.*1041C>T rs528740550
NM_000298.6(PKLR):c.*1067T>C rs559809916
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000298.6(PKLR):c.*13T>G rs1052177
NM_000298.6(PKLR):c.*14C>T rs8177994
NM_000298.6(PKLR):c.*267C>T rs932972
NM_000298.6(PKLR):c.*275C>T rs886045350
NM_000298.6(PKLR):c.*342C>T rs879040355
NM_000298.6(PKLR):c.*346_*348del rs556763356
NM_000298.6(PKLR):c.*351T>A rs886045349
NM_000298.6(PKLR):c.*499G>A rs777573500
NM_000298.6(PKLR):c.*582G>A rs758139094
NM_000298.6(PKLR):c.*779C>A rs886045348
NM_000298.6(PKLR):c.*866T>C rs886045347
NM_000298.6(PKLR):c.*893T>G rs41264939
NM_000298.6(PKLR):c.-26C>T rs200181342
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp) rs765903674
NM_000298.6(PKLR):c.111G>T (p.Gly37=) rs141341788
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp) rs375189218
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val) rs756549612
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) rs146708702
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp) rs200133000
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641
NM_000298.6(PKLR):c.1705C>A (p.Arg569=) rs1052176
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly) rs886045353
NM_000298.6(PKLR):c.284-9T>C rs886045352
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000298.6(PKLR):c.507G>A (p.Gly169=) rs201674983
NM_000298.6(PKLR):c.639G>T (p.Val213=) rs750102822
NM_000298.6(PKLR):c.6G>A (p.Ser2=) rs139697646
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser) rs745797890
NM_000298.6(PKLR):c.790C>T (p.Leu264=) rs199959447
NM_000298.6(PKLR):c.909G>C (p.Pro303=) rs200840994
NM_000298.6(PKLR):c.918C>A (p.His306Gln) rs141571402
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys) rs1557959063
NM_000298.6(PKLR):c.965+12G>A rs200039500
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000342.4(SLC4A1):c.*1103del rs111655803
NM_000342.4(SLC4A1):c.*1198A>T rs886052992
NM_000342.4(SLC4A1):c.*1227A>C rs141425539
NM_000342.4(SLC4A1):c.*1237C>T rs774513767
NM_000342.4(SLC4A1):c.*1273G>T rs769140134
NM_000342.4(SLC4A1):c.*1273del rs768606768
NM_000342.4(SLC4A1):c.*1316C>T rs886052991
NM_000342.4(SLC4A1):c.*135G>A rs566741511
NM_000342.4(SLC4A1):c.*1568G>A rs5033
NM_000342.4(SLC4A1):c.*1596A>C rs886052990
NM_000342.4(SLC4A1):c.*1606_*1608dup rs57466226
NM_000342.4(SLC4A1):c.*1608del rs57466226
NM_000342.4(SLC4A1):c.*1608dup rs57466226
NM_000342.4(SLC4A1):c.*1676A>G rs745898810
NM_000342.4(SLC4A1):c.*1721G>A rs62078947
NM_000342.4(SLC4A1):c.*1832G>A rs886052988
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.*351G>T rs138242019
NM_000342.4(SLC4A1):c.*408C>T rs45555735
NM_000342.4(SLC4A1):c.*794del rs45515496
NM_000342.4(SLC4A1):c.*872G>C rs886052994
NM_000342.4(SLC4A1):c.*897G>A rs5030
NM_000342.4(SLC4A1):c.*947C>G rs368389948
NM_000342.4(SLC4A1):c.*977G>A rs886052993
NM_000342.4(SLC4A1):c.-135G>A rs183529485
NM_000342.4(SLC4A1):c.-136C>T rs566359654
NM_000342.4(SLC4A1):c.-30C>T rs148028272
NM_000342.4(SLC4A1):c.-60G>A rs75489266
NM_000342.4(SLC4A1):c.-65C>A rs886053001
NM_000342.4(SLC4A1):c.113A>C (p.Asp38Ala) rs5035
NM_000342.4(SLC4A1):c.1225G>A (p.Val409Ile) rs201821517
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.1431+13T>G rs747632229
NM_000342.4(SLC4A1):c.1431+15G>T rs886052999
NM_000342.4(SLC4A1):c.16-14G>A rs145502796
NM_000342.4(SLC4A1):c.1637A>G (p.Asp546Gly) rs886052998
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys) rs368863744
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.202G>A (p.Glu68Lys) rs13306787
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788
NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=) rs766674440
NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val) rs886052997
NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu) rs886052996
NM_000342.4(SLC4A1):c.2482-9C>T rs886052995
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.2630T>C (p.Ile877Thr) rs765911147
NM_000342.4(SLC4A1):c.2688T>C (p.Asp896=) rs45497993
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032
NM_000342.4(SLC4A1):c.636A>G (p.Ser212=) rs886053000
NM_000342.4(SLC4A1):c.697C>G (p.Arg233Gly) rs779054292
NM_000342.4(SLC4A1):c.876+14G>A rs571092411
NM_000342.4(SLC4A1):c.884G>A (p.Arg295His) rs140424071
NM_000342.4(SLC4A1):c.924G>A (p.Leu308=) rs5013
NM_000355.3(TCN2):c.-181A>C rs2240433
NM_000355.3(TCN2):c.-181A>G rs2240433
NM_000355.3(TCN2):c.-191G>A rs886057394
NM_000355.3(TCN2):c.-215C>T rs79083159
NM_000355.3(TCN2):c.-244C>T rs143029449
NM_000355.3(TCN2):c.-250C>T rs5753231
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.*127C>T rs12160073
NM_000355.4(TCN2):c.*209G>C rs146450057
NM_000355.4(TCN2):c.*225A>T rs2072195
NM_000355.4(TCN2):c.*29C>A rs190828416
NM_000355.4(TCN2):c.*300T>G rs187942607
NM_000355.4(TCN2):c.*313dup rs397940476
NM_000355.4(TCN2):c.*381T>G rs149713328
NM_000355.4(TCN2):c.*382C>T rs56076607
NM_000355.4(TCN2):c.*444C>T rs10418
NM_000355.4(TCN2):c.*82C>T rs12169610
NM_000355.4(TCN2):c.*93G>C rs886057398
NM_000355.4(TCN2):c.-153C>G rs886057395
NM_000355.4(TCN2):c.-34A>G rs199511962
NM_000355.4(TCN2):c.-98T>G rs370882214
NM_000355.4(TCN2):c.1017C>G (p.Leu339=) rs35997415
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.1058C>G (p.Ser353Cys) rs539987014
NM_000355.4(TCN2):c.1092G>A (p.Glu364=) rs886057397
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.138C>T (p.Ser46=) rs143250551
NM_000355.4(TCN2):c.230A>T (p.Lys77Met) rs75680863
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865
NM_000355.4(TCN2):c.353T>C (p.Phe118Ser) rs199728304
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp) rs886057396
NM_000355.4(TCN2):c.428-4T>C rs201408393
NM_000355.4(TCN2):c.459C>T (p.Ser153=) rs201344377
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln) rs117353193
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu) rs146009793
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000355.4(TCN2):c.581-8A>C rs7290898
NM_000355.4(TCN2):c.64+11C>T rs141519384
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp) rs35838082
NM_000355.4(TCN2):c.644G>A (p.Arg215Gln) rs760721315
NM_000355.4(TCN2):c.67A>G (p.Ile23Val) rs9606756
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198
NM_000355.4(TCN2):c.810G>T (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.840T>C (p.Asp280=) rs79999752
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233
NM_000355.4(TCN2):c.903C>T (p.Tyr301=) rs146036025
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105
NM_000355.4(TCN2):c.941-13C>T rs192009509
NM_000355.4(TCN2):c.998C>T (p.Thr333Met) rs117458738
NM_000361.2(THBD):c.*1001A>C rs3176123
NM_000361.2(THBD):c.*1153A>G rs886056542
NM_000361.2(THBD):c.*1171C>G rs143450327
NM_000361.2(THBD):c.*1239G>A rs549574979
NM_000361.2(THBD):c.*1315C>T rs886056541
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.*1689C>T rs886056540
NM_000361.2(THBD):c.*1770T>C rs113252822
NM_000361.2(THBD):c.*1869G>A rs886056539
NM_000361.2(THBD):c.*1918G>A rs1962
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.*277G>A rs3176134
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.*508dupT rs373979588
NM_000361.2(THBD):c.*520C>G rs41282276
NM_000361.2(THBD):c.*562G>C rs886056544
NM_000361.2(THBD):c.*663C>T rs886056543
NM_000361.2(THBD):c.*759A>T rs73611750
NM_000361.2(THBD):c.*793A>G rs1042580
NM_000361.2(THBD):c.*87T>G rs3176133
NM_000361.2(THBD):c.*943dupT rs759004623
NM_000361.2(THBD):c.-12C>T rs370548660
NM_000361.2(THBD):c.-38G>A rs750724405
NM_000361.2(THBD):c.-58G>C rs13306849
NM_000361.2(THBD):c.1029A>G (p.Thr343=) rs79349426
NM_000361.2(THBD):c.1083G>A (p.Glu361=) rs370377519
NM_000361.2(THBD):c.1092G>A (p.Glu364=) rs73901577
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.1418C>T (p.Ala473Val) rs1042579
NM_000361.2(THBD):c.1456G>T (p.Asp486Tyr) rs41348347
NM_000361.2(THBD):c.1502C>T (p.Pro501Leu) rs1800579
NM_000361.2(THBD):c.1528G>A (p.Val510Met) rs555537779
NM_000361.2(THBD):c.331G>A (p.Val111Ile) rs886056549
NM_000361.2(THBD):c.40G>A (p.Gly14Ser) rs191884040
NM_000361.2(THBD):c.656G>T (p.Gly219Val) rs886056548
NM_000361.2(THBD):c.675C>T (p.Thr225=) rs775568682
NM_000361.2(THBD):c.716C>T (p.Ala239Val) rs886056547
NM_000361.2(THBD):c.747C>G (p.Asn249Lys) rs886056546
NM_000361.2(THBD):c.920C>T (p.Ser307Leu) rs372556297
NM_000373.3(UMPS):c.-110A>G rs2279198
NM_000373.3(UMPS):c.-28A>G rs1139538
NM_000373.3(UMPS):c.-67T>C rs2279199
NM_000373.4(UMPS):c.*1050C>T rs186445088
NM_000373.4(UMPS):c.*1051G>T rs2242248
NM_000373.4(UMPS):c.*1080A>G rs780894047
NM_000373.4(UMPS):c.*1088T>G rs535422876
NM_000373.4(UMPS):c.*1153C>T rs768119744
NM_000373.4(UMPS):c.*1155T>C rs112368493
NM_000373.4(UMPS):c.*1211C>A rs11706118
NM_000373.4(UMPS):c.*1298_*1299del rs11330991
NM_000373.4(UMPS):c.*1299del rs11330991
NM_000373.4(UMPS):c.*1306_*1307del rs777742646
NM_000373.4(UMPS):c.*1319G>A rs821375
NM_000373.4(UMPS):c.*1326C>A rs2242249
NM_000373.4(UMPS):c.*1342C>T rs183081203
NM_000373.4(UMPS):c.*1349G>A rs138112683
NM_000373.4(UMPS):c.*1418T>A rs886057874
NM_000373.4(UMPS):c.*1517C>A rs74477033
NM_000373.4(UMPS):c.*1520del rs758378045
NM_000373.4(UMPS):c.*1535G>A rs886057875
NM_000373.4(UMPS):c.*1711T>G rs10934684
NM_000373.4(UMPS):c.*1840A>G rs183441859
NM_000373.4(UMPS):c.*1902G>A rs147465900
NM_000373.4(UMPS):c.*2054A>G rs886057876
NM_000373.4(UMPS):c.*2159C>T rs559652457
NM_000373.4(UMPS):c.*2172A>G rs886057877
NM_000373.4(UMPS):c.*2202del rs397844102
NM_000373.4(UMPS):c.*2230C>T rs565272396
NM_000373.4(UMPS):c.*2356T>C rs148772995
NM_000373.4(UMPS):c.*2410_*2412del rs886057878
NM_000373.4(UMPS):c.*2412_*2414GAA[1] rs369976877
NM_000373.4(UMPS):c.*2605G>A rs554810943
NM_000373.4(UMPS):c.*2614G>A rs4677940
NM_000373.4(UMPS):c.*2632C>A rs886057879
NM_000373.4(UMPS):c.*2671T>G rs886057880
NM_000373.4(UMPS):c.*2672_*2673TG[18] rs58981387
NM_000373.4(UMPS):c.*2672_*2673TG[20] rs58981387
NM_000373.4(UMPS):c.*2672_*2673TG[22] rs58981387
NM_000373.4(UMPS):c.*2672_*2673TG[24] rs58981387
NM_000373.4(UMPS):c.*2672_*2673TG[25] rs58981387
NM_000373.4(UMPS):c.*2672_*2673TG[26] rs58981387
NM_000373.4(UMPS):c.*2703G>A rs886057883
NM_000373.4(UMPS):c.*2715_*2718del rs886057884
NM_000373.4(UMPS):c.*2716T>C rs886057885
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.*2930_*2933TTTG[4] rs10631393
NM_000373.4(UMPS):c.*2995A>G rs1979411
NM_000373.4(UMPS):c.*3026G>A rs1979412
NM_000373.4(UMPS):c.*3065C>T rs116880739
NM_000373.4(UMPS):c.*3083G>T rs886057887
NM_000373.4(UMPS):c.*3130C>T rs374728245
NM_000373.4(UMPS):c.*3131G>A rs140750390
NM_000373.4(UMPS):c.*3152G>A rs1979413
NM_000373.4(UMPS):c.*3183dup rs11443775
NM_000373.4(UMPS):c.*3193T>C rs886057889
NM_000373.4(UMPS):c.*3258A>C rs886057890
NM_000373.4(UMPS):c.*3264G>A rs190423326
NM_000373.4(UMPS):c.*3359G>T rs752390899
NM_000373.4(UMPS):c.*3367C>A rs768556841
NM_000373.4(UMPS):c.*3374C>G rs143276999
NM_000373.4(UMPS):c.*3376C>T rs76151694
NM_000373.4(UMPS):c.*3414A>G rs115977637
NM_000373.4(UMPS):c.*3447T>C rs764528076
NM_000373.4(UMPS):c.*3495T>C rs886057891
NM_000373.4(UMPS):c.*3537G>A rs606369
NM_000373.4(UMPS):c.*3589C>T rs10934685
NM_000373.4(UMPS):c.*3598C>G rs886057892
NM_000373.4(UMPS):c.*3701C>T rs768769772
NM_000373.4(UMPS):c.*3732C>T rs111966656
NM_000373.4(UMPS):c.*3990A>T rs77082052
NM_000373.4(UMPS):c.*4013_*4017ATATA[1] rs541152211
NM_000373.4(UMPS):c.*4016T>C rs77601301
NM_000373.4(UMPS):c.*4065C>T rs759188574
NM_000373.4(UMPS):c.*4078T>C rs13315593
NM_000373.4(UMPS):c.*4116G>A rs886057894
NM_000373.4(UMPS):c.*4138T>G rs593292
NM_000373.4(UMPS):c.*4178A>G rs758463509
NM_000373.4(UMPS):c.*4215C>T rs780219461
NM_000373.4(UMPS):c.*4231A>G rs886057895
NM_000373.4(UMPS):c.*4252G>T rs117707217
NM_000373.4(UMPS):c.*4263T>C rs558675693
NM_000373.4(UMPS):c.*4278G>A rs11927687
NM_000373.4(UMPS):c.*4316C>A rs689449
NM_000373.4(UMPS):c.*4344T>C rs180944864
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.*4496G>A rs886057896
NM_000373.4(UMPS):c.*4511G>A rs569255721
NM_000373.4(UMPS):c.*4717C>T rs117624716
NM_000373.4(UMPS):c.*4755G>A rs189776179
NM_000373.4(UMPS):c.*4765_*4767del rs886057897
NM_000373.4(UMPS):c.*4862A>G rs886057898
NM_000373.4(UMPS):c.*4876C>G rs192036374
NM_000373.4(UMPS):c.*4883C>T rs148029686
NM_000373.4(UMPS):c.*4895A>G rs142288742
NM_000373.4(UMPS):c.*4906G>C rs702039
NM_000373.4(UMPS):c.*5014C>T rs569469184
NM_000373.4(UMPS):c.*5027A>G rs886057899
NM_000373.4(UMPS):c.*5120_*5124del rs556352266
NM_000373.4(UMPS):c.*5133del rs886057901
NM_000373.4(UMPS):c.*526A>G rs2242246
NM_000373.4(UMPS):c.*56del rs3836305
NM_000373.4(UMPS):c.*691C>G rs886057872
NM_000373.4(UMPS):c.*725A>T rs2242247
NM_000373.4(UMPS):c.*726C>T rs649652
NM_000373.4(UMPS):c.*814C>T rs763914466
NM_000373.4(UMPS):c.*868del rs570945751
NM_000373.4(UMPS):c.*983C>T rs11706036
NM_000373.4(UMPS):c.*993A>T rs74704429
NM_000373.4(UMPS):c.-19A>G rs747117815
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.1157C>T (p.Ala386Val) rs202158549
NM_000373.4(UMPS):c.1273+14C>T rs374339942
NM_000373.4(UMPS):c.1320C>T (p.Gly440=) rs13146
NM_000373.4(UMPS):c.1336A>G (p.Ile446Val) rs3772809
NM_000373.4(UMPS):c.1374T>C (p.Asp458=) rs200608473
NM_000373.4(UMPS):c.18A>G (p.Ala6=) rs141501397
NM_000373.4(UMPS):c.21T>C (p.Ala7=) rs17843775
NM_000373.4(UMPS):c.385G>T (p.Gly129Ter) rs747405574
NM_000373.4(UMPS):c.441T>C (p.Thr147=) rs886057871
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019
NM_000373.4(UMPS):c.827G>A (p.Ser276Asn) rs140804035
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) rs200305064
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) rs17843776
NM_000373.4(UMPS):c.953T>C (p.Ile318Thr) rs375535366
NM_000375.3(UROS):c.*178G>A rs569628154
NM_000375.3(UROS):c.*24A>G rs760003189
NM_000375.3(UROS):c.*37G>T rs372132511
NM_000375.3(UROS):c.*99A>G rs886046814
NM_000375.3(UROS):c.-136C>T rs539482783
NM_000375.3(UROS):c.-185G>A rs4256900
NM_000375.3(UROS):c.-219C>A rs4385801
NM_000375.3(UROS):c.-232G>A rs886046815
NM_000375.3(UROS):c.-27+10G>A rs376517536
NM_000375.3(UROS):c.-31G>T rs73381212
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016
NM_000375.3(UROS):c.251A>C (p.Glu84Ala) rs763606042
NM_000375.3(UROS):c.27G>A (p.Ala9=) rs150059279
NM_000375.3(UROS):c.327A>C (p.Lys109Asn) rs369561042
NM_000375.3(UROS):c.338A>T (p.Asp113Val) rs117926090
NM_000375.3(UROS):c.475+14T>A rs17425877
NM_000375.3(UROS):c.512T>C (p.Val171Ala) rs17173752
NM_000375.3(UROS):c.512T>G (p.Val171Gly) rs17173752
NM_000375.3(UROS):c.691G>A (p.Ala231Thr) rs780837512
NM_000384.2(APOB):c.12088-13dupT rs751121092
NM_000384.3(APOB):c.*11G>T rs72654428
NM_000384.3(APOB):c.*179C>T rs142151703
NM_000384.3(APOB):c.*180G>T rs12720763
NM_000384.3(APOB):c.*207C>A rs886055566
NM_000384.3(APOB):c.*229A>G rs72654430
NM_000384.3(APOB):c.*85T>C rs886055569
NM_000384.3(APOB):c.10575C>T (p.Ser3525=) rs142573551
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.3(APOB):c.1061A>G (p.Glu354Gly) rs149227065
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.1075A>G (p.Ser359Gly) rs757383498
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr) rs141982176
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln) rs1801701
NM_000384.3(APOB):c.10929T>C (p.Ser3643=) rs886055578
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu) rs61741974
NM_000384.3(APOB):c.11312A>T (p.Tyr3771Phe) rs773390117
NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile) rs143710616
NM_000384.3(APOB):c.11362G>A (p.Glu3788Lys) rs13306191
NM_000384.3(APOB):c.11443G>A (p.Val3815Met) rs551178628
NM_000384.3(APOB):c.11466G>A (p.Val3822=) rs755842633
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val) rs762255105
NM_000384.3(APOB):c.11571G>A (p.Val3857=) rs113604891
NM_000384.3(APOB):c.11808C>T (p.Ile3936=) rs12720852
NM_000384.3(APOB):c.11816G>A (p.Gly3939Asp) rs142828185
NM_000384.3(APOB):c.11820G>T (p.Thr3940=) rs72654417
NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala) rs1801698
NM_000384.3(APOB):c.11855G>A (p.Arg3952His) rs886055576
NM_000384.3(APOB):c.11904-15T>A rs370325726
NM_000384.3(APOB):c.11904-7C>T rs12720851
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys) rs373477107
NM_000384.3(APOB):c.11929A>C (p.Asn3977His) rs761528809
NM_000384.3(APOB):c.11942C>T (p.Pro3981Leu) rs886055575
NM_000384.3(APOB):c.12024C>T (p.Thr4008=) rs145269223
NM_000384.3(APOB):c.12088-14T>C rs182329513
NM_000384.3(APOB):c.12137G>A (p.Arg4046Gln) rs149273387
NM_000384.3(APOB):c.12178G>C (p.Glu4060Gln) rs886055574
NM_000384.3(APOB):c.12219C>T (p.Asn4073=) rs886055573
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr) rs12714225
NM_000384.3(APOB):c.12252T>C (p.Tyr4084=) rs138157751
NM_000384.3(APOB):c.12443C>A (p.Ala4148Asp) rs756476242
NM_000384.3(APOB):c.12444C>A (p.Ala4148=) rs757789853
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys) rs1042031
NM_000384.3(APOB):c.12807T>C (p.Tyr4269=) rs181340304
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr) rs1801702
NM_000384.3(APOB):c.12903C>T (p.Asp4301=) rs200145506
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys) rs886055572
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.13102C>G (p.Gln4368Glu) rs72654424
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser) rs151333262
NM_000384.3(APOB):c.13302C>T (p.Ser4434=) rs144040999
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val) rs142702699
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met) rs12713450
NM_000384.3(APOB):c.1353-12C>T rs76202659
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys) rs886055571
NM_000384.3(APOB):c.1400C>G (p.Ala467Gly) rs376602710
NM_000384.3(APOB):c.1470+15T>C rs185550846
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.2160C>T (p.Tyr720=) rs756184175
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys) rs143425834
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.2728G>T (p.Gly910Cys) rs747610107
NM_000384.3(APOB):c.2740C>T (p.His914Tyr) rs775976285
NM_000384.3(APOB):c.2823A>G (p.Thr941=) rs200868559
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347
NM_000384.3(APOB):c.285C>A (p.Ser95Arg) rs143613534
NM_000384.3(APOB):c.2861C>T (p.Pro954Leu) rs148943299
NM_000384.3(APOB):c.288G>T (p.Gln96His) rs186544754
NM_000384.3(APOB):c.2917C>A (p.Leu973Met) rs886055592
NM_000384.3(APOB):c.293C>T (p.Thr98Ile) rs1367117
NM_000384.3(APOB):c.3122-6G>A rs72653071
NM_000384.3(APOB):c.3165G>T (p.Arg1055=) rs748079943
NM_000384.3(APOB):c.3178T>C (p.Leu1060=) rs72653073
NM_000384.3(APOB):c.3331A>C (p.Ser1111Arg) rs886055591
NM_000384.3(APOB):c.3332+12C>T rs370058811
NM_000384.3(APOB):c.3426G>A (p.Ser1142=) rs142448733
NM_000384.3(APOB):c.3471T>C (p.Tyr1157=) rs201128198
NM_000384.3(APOB):c.3509-10G>A rs12720770
NM_000384.3(APOB):c.3509-11C>T rs200768300
NM_000384.3(APOB):c.354C>A (p.Asn118Lys) rs781633079
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn) rs375894411
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met) rs61736761
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile) rs72653078
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr) rs200261177
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079
NM_000384.3(APOB):c.400G>T (p.Ala134Ser) rs368321279
NM_000384.3(APOB):c.4143C>A (p.Asp1381Glu) rs754597311
NM_000384.3(APOB):c.4163G>A (p.Arg1388His) rs13306187
NM_000384.3(APOB):c.4216+4A>G rs886055588
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.4449A>G (p.Glu1483=) rs151018874
NM_000384.3(APOB):c.4656T>C (p.Ser1552=) rs761580028
NM_000384.3(APOB):c.4929G>A (p.Ala1643=) rs200623857
NM_000384.3(APOB):c.4968A>T (p.Ala1656=) rs753643550
NM_000384.3(APOB):c.5006A>G (p.Asn1669Ser) rs886055586
NM_000384.3(APOB):c.538-9C>T rs1800478
NM_000384.3(APOB):c.5490C>G (p.Ala1830=) rs886055585
NM_000384.3(APOB):c.5600G>A (p.Arg1867Gln) rs371337253
NM_000384.3(APOB):c.5763A>G (p.Gly1921=) rs141022509
NM_000384.3(APOB):c.581C>T (p.Thr194Met) rs13306198
NM_000384.3(APOB):c.5913G>A (p.Leu1971=) rs374251542
NM_000384.3(APOB):c.602C>T (p.Thr201Ile) rs886055594
NM_000384.3(APOB):c.607A>G (p.Ile203Val) rs72653059
NM_000384.3(APOB):c.6125T>C (p.Met2042Thr) rs371224295
NM_000384.3(APOB):c.6304A>G (p.Ile2102Val) rs886055584
NM_000384.3(APOB):c.6342C>T (p.Ala2114=) rs768164831
NM_000384.3(APOB):c.638A>T (p.Asp213Val) rs370711366
NM_000384.3(APOB):c.6656G>A (p.Arg2219His) rs200106845
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.7181T>C (p.Val2394Ala) rs148429884
NM_000384.3(APOB):c.7242A>C (p.Glu2414Asp) rs72653091
NM_000384.3(APOB):c.7405T>A (p.Phe2469Ile) rs768221258
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys) rs747140161
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093
NM_000384.3(APOB):c.7615G>A (p.Val2539Ile) rs148170480
NM_000384.3(APOB):c.7655A>G (p.Asp2552Gly) rs779100523
NM_000384.3(APOB):c.7939A>C (p.Thr2647Pro) rs748143305
NM_000384.3(APOB):c.7984A>C (p.Thr2662Pro) rs886055583
NM_000384.3(APOB):c.7989T>C (p.Ile2663=) rs199642915
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.8231C>T (p.Pro2744Leu) rs886055582
NM_000384.3(APOB):c.83-11C>T rs372452800
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204
NM_000384.3(APOB):c.8373T>C (p.Ala2791=) rs371493888
NM_000384.3(APOB):c.8889C>T (p.Ile2963=) rs72653097
NM_000384.3(APOB):c.8912A>C (p.Asn2971Thr) rs72653098
NM_000384.3(APOB):c.9004C>T (p.Leu3002=) rs12713600
NM_000384.3(APOB):c.904+11C>G rs148944625
NM_000384.3(APOB):c.9202A>G (p.Ile3068Val) rs778492524
NM_000384.3(APOB):c.9294C>T (p.Tyr3098=) rs145777339
NM_000384.3(APOB):c.9477G>A (p.Lys3159=) rs13306196
NM_000384.3(APOB):c.9491C>T (p.Thr3164Met) rs143269114
NM_000384.3(APOB):c.9746C>T (p.Pro3249Leu) rs886055580
NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser) rs142422341
NM_000384.3(APOB):c.9883T>C (p.Tyr3295His) rs186299244
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.*53C>A rs886048393
NM_000518.5(HBB):c.*56A>T rs537944366
NM_000518.5(HBB):c.-31C>T rs63750628
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040
NM_000519.3(HBD):c.-180A>G rs186432678
NM_000519.3(HBD):c.-60A>T rs112372029
NM_000519.3(HBD):c.-62C>T rs144322869
NM_000519.4(HBD):c.*59C>G rs755421119
NM_000519.4(HBD):c.*91G>A rs886048394
NM_000519.4(HBD):c.225C>T (p.Gly75=) rs113727122
NM_000519.4(HBD):c.76G>A (p.Gly26Ser) rs886048395
NM_000617.3(SLC11A2):c.-110G>T rs6580779
NM_000617.3(SLC11A2):c.-38-3C>T rs886049569
NM_000617.3(SLC11A2):c.-39G>A rs751410203
NM_000617.3(SLC11A2):c.-50G>A rs886049570
NM_000617.3(SLC11A2):c.-78G>A rs2301528
NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp) rs121918365
NM_000617.3(SLC11A2):c.1206G>A (p.Leu402=) rs761054843
NM_000617.3(SLC11A2):c.1254T>C (p.Ile418=) rs1048230
NM_000617.3(SLC11A2):c.1258A>G (p.Ile420Val) rs148582995
NM_000617.3(SLC11A2):c.1348-10T>C rs189993499
NM_000617.3(SLC11A2):c.1421+8T>A rs886049566
NM_000617.3(SLC11A2):c.1425C>T (p.Gly475=) rs139057918
NM_000617.3(SLC11A2):c.1576-14A>G rs161044
NM_000617.3(SLC11A2):c.1584A>G (p.Gln528=) rs761505350
NM_000617.3(SLC11A2):c.1596A>C (p.Ala532=) rs760783598
NM_000617.3(SLC11A2):c.1663G>A (p.Ala555Thr) rs550969378
NM_000617.3(SLC11A2):c.197G>A (p.Ser66Asn) rs141728916
NM_000617.3(SLC11A2):c.34+11G>A rs427020
NM_000617.3(SLC11A2):c.436C>G (p.Arg146Gly) rs774857007
NM_000617.3(SLC11A2):c.504A>G (p.Ser168=) rs145155499
NM_000617.3(SLC11A2):c.514A>G (p.Ile172Val) rs886049568
NM_000617.3(SLC11A2):c.607+12G>A rs224454
NM_000617.3(SLC11A2):c.625G>A (p.Ala209Thr) rs115874705
NM_000617.3(SLC11A2):c.647C>T (p.Thr216Ile) rs886049567
NM_000617.3(SLC11A2):c.921C>T (p.Ser307=) rs762100462
NM_000617.3(SLC11A2):c.932A>G (p.Asn311Ser) rs769742722
NM_000619.3(IFNG):c.*107A>G rs886049800
NM_000619.3(IFNG):c.*180C>T rs2069722
NM_000619.3(IFNG):c.*500C>T rs528060683
NM_000619.3(IFNG):c.*539A>G rs2069723
NM_000619.3(IFNG):c.*93_*96TCAA[1] rs137854903
NM_000619.3(IFNG):c.*9C>T rs886049801
NM_000619.3(IFNG):c.-2C>A rs886049802
NM_000619.3(IFNG):c.-34T>G rs752463155
NM_000619.3(IFNG):c.-5A>G rs181407537
NM_000619.3(IFNG):c.-9T>C rs886049803
NM_000619.3(IFNG):c.114+11C>T rs200610212
NM_000619.3(IFNG):c.431C>A (p.Ser144Ter) rs753611452
NM_000969.5(RPL5):c.-18C>A rs201295012
NM_000969.5(RPL5):c.-2G>A rs886046558
NM_000969.5(RPL5):c.-38C>T rs372080902
NM_000969.5(RPL5):c.-42A>C rs145634330
NM_000969.5(RPL5):c.-46C>G rs376208311
NM_000969.5(RPL5):c.-48G>A rs376070413
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.-62C>G rs368663464
NM_000969.5(RPL5):c.-6C>T rs199523145
NM_000969.5(RPL5):c.-70T>A rs551112484
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys) rs750383596
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.629A>G (p.Tyr210Cys) rs11540832
NM_000969.5(RPL5):c.781G>C (p.Val261Leu) rs773839391
NM_000969.5(RPL5):c.794+121G>A rs10874744
NM_000969.5(RPL5):c.846A>G (p.Gln282=) rs376641112
NM_000975.5(RPL11):c.*52A>G rs60606712
NM_000975.5(RPL11):c.-14T>C rs886046307
NM_000975.5(RPL11):c.-37C>G rs10917413
NM_000975.5(RPL11):c.102G>A (p.Thr34=) rs199772693
NM_000975.5(RPL11):c.153C>T (p.Ser51=) rs80133698
NM_000975.5(RPL11):c.158-7C>T rs768654673
NM_000975.5(RPL11):c.270G>A (p.Arg90=) rs886046308
NM_000975.5(RPL11):c.306T>C (p.Thr102=) rs886046309
NM_000975.5(RPL11):c.30C>T (p.Asn10=) rs139286202
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880
NM_000996.4(RPL35A):c.*14C>A rs10022
NM_000996.4(RPL35A):c.*6C>T rs116874993
NM_000996.4(RPL35A):c.-31C>T rs766043927
NM_000996.4(RPL35A):c.-32-3A>G rs200335648
NM_000996.4(RPL35A):c.-33G>A rs564722971
NM_000996.4(RPL35A):c.-37T>G rs886058265
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.-13C>T rs765604580
NM_001011.4(RPS7):c.-19+13C>T rs530845583
NM_001011.4(RPS7):c.-23G>A rs886055985
NM_001011.4(RPS7):c.-27C>T rs573443780
NM_001011.4(RPS7):c.-36A>C rs17552296
NM_001011.4(RPS7):c.-44C>T rs563293592
NM_001011.4(RPS7):c.-47G>T rs11558965
NM_001011.4(RPS7):c.-86C>T rs186304514
NM_001011.4(RPS7):c.292-9A>T rs746941533
NM_001011.4(RPS7):c.39C>T (p.Gly13=) rs746686516
NM_001011.4(RPS7):c.508-12C>A rs2071639
NM_001011.4(RPS7):c.75+13C>T rs751796318
NM_001014.4(RPS10):c.-43T>G rs111597547
NM_001014.4(RPS10):c.-47A>G rs529023165
NM_001014.4(RPS10):c.-58C>T rs78454682
NM_001014.5(RPS10):c.*25G>T rs886061321
NM_001014.5(RPS10):c.*43A>G rs200231286
NM_001014.5(RPS10):c.-1+218A>C rs4713778
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.-32del rs767826894
NM_001014.5(RPS10):c.-37C>T rs9469779
NM_001014.5(RPS10):c.-38_-37del rs886061323
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.231G>A (p.Gln77=) rs147863199
NM_001014.5(RPS10):c.364G>A (p.Ala122Thr) rs886061322
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_001018115.2(FANCD2):c.4281+172G>A rs7626117
NM_001018115.2(FANCD2):c.4281+179C>T rs370459744
NM_001018115.2(FANCD2):c.4281+197A>G rs7647987
NM_001018115.2(FANCD2):c.4281+257C>T rs886057694
NM_001018115.2(FANCD2):c.4281+270A>G rs17032386
NM_001018115.2(FANCD2):c.4281+355A>G rs770674504
NM_001018115.2(FANCD2):c.4281+525A>G rs886057695
NM_001018115.2(FANCD2):c.4281+534G>A rs886057696
NM_001018115.2(FANCD2):c.4281+543C>T rs540249462
NM_001018115.2(FANCD2):c.4281+562C>A rs550613588
NM_001018115.2(FANCD2):c.4281+566T>G rs3826
NM_001018115.2(FANCD2):c.4281+597C>T rs548255173
NM_001018115.2(FANCD2):c.4281+673G>A rs9862958
NM_001018115.2(FANCD2):c.4281+685C>T rs11716842
NM_001018115.2(FANCD2):c.4281+823A>G rs886057697
NM_001022.3(RPS19):c.-139C>T rs886054467
NM_001022.3(RPS19):c.-146_-145insGCCA rs34020014
NM_001022.3(RPS19):c.-151G>T rs886054466
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_001022.3(RPS19):c.-339T>C rs886054465
NM_001022.3(RPS19):c.-74C>T rs886054468
NM_001022.3(RPS19):c.356+14A= rs1366610
NM_001022.3(RPS19):c.71+12delG rs886054470
NM_001022.4(RPS19):c.*54T>C rs527896025
NM_001022.4(RPS19):c.-1+14C>T rs886054469
NM_001022.4(RPS19):c.-10A>G rs564634801
NM_001022.4(RPS19):c.1-14A>G rs201317022
NM_001022.4(RPS19):c.1-9C>A rs376460080
NM_001022.4(RPS19):c.172+5G>C rs886054471
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_001029.5(RPS26):c.-149G>T rs886049686
NM_001029.5(RPS26):c.-209T>G rs78108003
NM_001029.5(RPS26):c.-22C>G rs1131017
NM_001029.5(RPS26):c.-27C>T rs200831849
NM_001029.5(RPS26):c.-31C>G rs17118262
NM_001029.5(RPS26):c.-33C>T rs372794158
NM_001029.5(RPS26):c.-35G>A rs188808121
NM_001029.5(RPS26):c.-3A>G rs181174349
NM_001029.5(RPS26):c.-80C>T rs886049687
NM_001029.5(RPS26):c.327T>A (p.Arg109=) rs56696262
NM_001029.5(RPS26):c.93C>T (p.Pro31=) rs760255764
NM_001040436.2(YARS2):c.1104-13dupA rs761612441
NM_001040436.3(YARS2):c.*126_*127del rs141873255
NM_001040436.3(YARS2):c.*142T>C rs190589666
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.*230A>G rs371690622
NM_001040436.3(YARS2):c.*24A>G rs368305831
NM_001040436.3(YARS2):c.*360A>G rs567955032
NM_001040436.3(YARS2):c.*406C>T rs145618550
NM_001040436.3(YARS2):c.*627A>T rs886049303
NM_001040436.3(YARS2):c.*62G>A rs527443669
NM_001040436.3(YARS2):c.*643G>A rs11052214
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) rs35339227
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502
NM_001040436.3(YARS2):c.1241G>A (p.Arg414His) rs762786998
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) rs148729348
NM_001040436.3(YARS2):c.180G>A (p.Glu60=) rs137922867
NM_001040436.3(YARS2):c.234T>C (p.Cys78=) rs565102282
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444
NM_001040436.3(YARS2):c.30C>T (p.Ser10=) rs886049305
NM_001040436.3(YARS2):c.327C>G (p.Ile109Met) rs886049304
NM_001040436.3(YARS2):c.456G>A (p.Ala152=) rs201940521
NM_001040436.3(YARS2):c.477C>T (p.Phe159=) rs774325742
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln) rs147630375
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445
NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg) rs541554381
NM_001040436.3(YARS2):c.819A>G (p.Leu273=) rs149781186
NM_001040436.3(YARS2):c.870T>C (p.Val290=) rs142067801
NM_001040436.3(YARS2):c.917T>C (p.Phe306Ser) rs376934259
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001040436.3(YARS2):c.934G>C (p.Asp312His) rs190043383
NM_001063.4(TF):c.*81A>G rs886058015
NM_001063.4(TF):c.-2A>G rs1130459
NM_001063.4(TF):c.1107C>T (p.His369=) rs112157819
NM_001063.4(TF):c.119G>A (p.Ser40Asn) rs146477698
NM_001063.4(TF):c.1302C>T (p.Ser434=) rs142542411
NM_001063.4(TF):c.142G>A (p.Val48Ile) rs144636315
NM_001063.4(TF):c.154G>A (p.Asp52Asn) rs41298295
NM_001063.4(TF):c.1572G>C (p.Leu524=) rs8649
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.1687+9A>C rs886058014
NM_001063.4(TF):c.1688-4C>A rs185023567
NM_001063.4(TF):c.174T>A (p.Cys58Ter) rs1559867036
NM_001063.4(TF):c.1765C>T (p.Pro589Ser) rs1049296
NM_001063.4(TF):c.1785C>T (p.Asn595=) rs757985238
NM_001063.4(TF):c.1805C>A (p.Pro602Gln) rs41296598
NM_001063.4(TF):c.216+14G>C rs114449208
NM_001063.4(TF):c.228G>A (p.Ala76=) rs140381335
NM_001063.4(TF):c.333G>A (p.Gln111=) rs150548621
NM_001063.4(TF):c.334A>G (p.Thr112Ala) rs199624323
NM_001063.4(TF):c.417G>A (p.Thr139=) rs113868497
NM_001063.4(TF):c.432C>T (p.Ser144=) rs41298987
NM_001063.4(TF):c.521C>T (p.Ser174Leu) rs150679929
NM_001063.4(TF):c.582A>G (p.Pro194=) rs8177226
NM_001063.4(TF):c.585G>A (p.Gly195=) rs376851470
NM_001063.4(TF):c.60C>T (p.Val20=) rs756125441
NM_001063.4(TF):c.624G>A (p.Ser208=) rs12769
NM_001063.4(TF):c.635+13T>A rs41298993
NM_001063.4(TF):c.686T>C (p.Ile229Thr) rs764361166
NM_001063.4(TF):c.739C>T (p.Leu247=) rs1799852
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_001063.4(TF):c.956A>G (p.His319Arg) rs41295774
NM_001081.3(CUBN):c.*134G>A rs780636
NM_001081.3(CUBN):c.*151G>A rs76742384
NM_001081.3(CUBN):c.*162G>A rs558891678
NM_001081.3(CUBN):c.*177C>G rs886046860
NM_001081.3(CUBN):c.*195T>C rs886046859
NM_001081.3(CUBN):c.*203C>T rs769041830
NM_001081.3(CUBN):c.*266C>T rs374059721
NM_001081.3(CUBN):c.*281A>G rs886046858
NM_001081.3(CUBN):c.*297C>T rs886046857
NM_001081.3(CUBN):c.*305T>G rs143326344
NM_001081.3(CUBN):c.*329C>G rs376727720
NM_001081.3(CUBN):c.*329C>T rs376727720
NM_001081.3(CUBN):c.*330G>C rs181630914
NM_001081.3(CUBN):c.*373G>T rs780298022
NM_001081.3(CUBN):c.*416G>A rs886046856
NM_001081.3(CUBN):c.*420C>T rs182278265
NM_001081.3(CUBN):c.*436C>A rs574512019
NM_001081.3(CUBN):c.*45C>T rs7085076
NM_001081.3(CUBN):c.*470T>C rs886046855
NM_001081.3(CUBN):c.*514T>G rs886046854
NM_001081.3(CUBN):c.*560C>T rs45565931
NM_001081.3(CUBN):c.*564G>C rs184284227
NM_001081.3(CUBN):c.*601A>G rs780635
NM_001081.3(CUBN):c.*734A>G rs751683958
NM_001081.3(CUBN):c.*737T>C rs114039309
NM_001081.3(CUBN):c.*781C>T rs115080396
NM_001081.3(CUBN):c.*782G>A rs570478432
NM_001081.3(CUBN):c.*786T>C rs886046853
NM_001081.3(CUBN):c.*794A>G rs886046852
NM_001081.3(CUBN):c.*81C>A rs886046861
NM_001081.3(CUBN):c.*883G>A rs886046851
NM_001081.3(CUBN):c.*93C>A rs111644764
NM_001081.3(CUBN):c.-35G>C rs376502722
NM_001081.3(CUBN):c.-42G>T rs751905101
NM_001081.3(CUBN):c.-50G>A rs370711661
NM_001081.3(CUBN):c.10012C>A (p.Gln3338Lys) rs755210947
NM_001081.3(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947
NM_001081.3(CUBN):c.1003G>A (p.Ala335Thr) rs57335729
NM_001081.3(CUBN):c.10076C>T (p.Ser3359Leu) rs140566726
NM_001081.3(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.3(CUBN):c.10102A>G (p.Met3368Val) rs767333853
NM_001081.3(CUBN):c.10119C>A (p.Val3373=) rs139596037
NM_001081.3(CUBN):c.10181-14A>G rs886046864
NM_001081.3(CUBN):c.10245C>T (p.Tyr3415=) rs147730705
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.10267G>A (p.Val3423Ile) rs145872906
NM_001081.3(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873
NM_001081.3(CUBN):c.10363-3A>G rs765943248
NM_001081.3(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) rs141937843
NM_001081.3(CUBN):c.10466T>G (p.Phe3489Cys) rs886046863
NM_001081.3(CUBN):c.10641G>A (p.Arg3547=) rs145909413
NM_001081.3(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.3(CUBN):c.10752A>T (p.Pro3584=) rs886046862
NM_001081.3(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266
NM_001081.3(CUBN):c.10764+1G>A rs374982220
NM_001081.3(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.3(CUBN):c.109A>C (p.Ile37Leu) rs76788243
NM_001081.3(CUBN):c.1110A>C (p.Leu370=) rs886046878
NM_001081.3(CUBN):c.1111+5T>C rs199662739
NM_001081.3(CUBN):c.1165C>A (p.Pro389Thr) rs1801224
NM_001081.3(CUBN):c.1245T>C (p.Gly415=) rs12571671
NM_001081.3(CUBN):c.1530+12A>C rs138936163
NM_001081.3(CUBN):c.1604A>G (p.Tyr535Cys) rs139848689
NM_001081.3(CUBN):c.1653C>T (p.Ser551=) rs372499101
NM_001081.3(CUBN):c.1681G>A (p.Asp561Asn) rs147449194
NM_001081.3(CUBN):c.1794C>T (p.Tyr598=) rs140184467
NM_001081.3(CUBN):c.1811C>T (p.Pro604Leu) rs200537125
NM_001081.3(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.3(CUBN):c.1926C>T (p.Asp642=) rs201938886
NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) rs12259370
NM_001081.3(CUBN):c.2013A>G (p.Pro671=) rs137892259
NM_001081.3(CUBN):c.2016G>A (p.Pro672=) rs148107237
NM_001081.3(CUBN):c.2110+10C>G rs752409034
NM_001081.3(CUBN):c.2120G>A (p.Arg707His) rs763524933
NM_001081.3(CUBN):c.2138C>T (p.Thr713Met) rs141420691
NM_001081.3(CUBN):c.2182T>C (p.Phe728Leu) rs147752521
NM_001081.3(CUBN):c.2188C>T (p.His730Tyr) rs7905349
NM_001081.3(CUBN):c.2203G>A (p.Val735Ile) rs370770104
NM_001081.3(CUBN):c.2445C>T (p.Val815=) rs116350428
NM_001081.3(CUBN):c.2446+11A>G rs372125740
NM_001081.3(CUBN):c.2446+14_2446+15delTA rs752528712
NM_001081.3(CUBN):c.2447-15T>A rs886046877
NM_001081.3(CUBN):c.2483G>A (p.Arg828His) rs199527884
NM_001081.3(CUBN):c.2487G>A (p.Ser829=) rs1801225
NM_001081.3(CUBN):c.2536A>G (p.Ile846Val) rs775423928
NM_001081.3(CUBN):c.2571C>T (p.Asn857=) rs17432826
NM_001081.3(CUBN):c.2610A>G (p.Glu870=) rs143471343
NM_001081.3(CUBN):c.2656G>A (p.Glu886Lys) rs138545198
NM_001081.3(CUBN):c.2791+14C>T rs111781659
NM_001081.3(CUBN):c.2791+6A>C rs78549445
NM_001081.3(CUBN):c.2791+9C>T rs10795440
NM_001081.3(CUBN):c.2922C>T (p.Phe974=) rs201802902
NM_001081.3(CUBN):c.3008+9_3008+12dupATGT rs772081536
NM_001081.3(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503
NM_001081.3(CUBN):c.3252A>G (p.Gln1084=) rs142560894
NM_001081.3(CUBN):c.3308A>G (p.Tyr1103Cys) rs760682560
NM_001081.3(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907
NM_001081.3(CUBN):c.3417A>G (p.Leu1139=) rs1801228
NM_001081.3(CUBN):c.348+2T>C
NM_001081.3(CUBN):c.349-9T>C rs375431948
NM_001081.3(CUBN):c.3522C>T (p.Gly1174=) rs1873469
NM_001081.3(CUBN):c.3551C>G (p.Pro1184Arg) rs886046876
NM_001081.3(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.3(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360
NM_001081.3(CUBN):c.387+13C>T rs766779196
NM_001081.3(CUBN):c.3995A>G (p.Asn1332Ser) rs370803308
NM_001081.3(CUBN):c.4020C>G (p.Leu1340=) rs769326338
NM_001081.3(CUBN):c.4092C>G (p.Ser1364=) rs199763912
NM_001081.3(CUBN):c.4167C>T (p.Tyr1389=) rs150510291
NM_001081.3(CUBN):c.4375T>G (p.Ser1459Ala) rs886046875
NM_001081.3(CUBN):c.4563T>A (p.Ile1521=) rs1801229
NM_001081.3(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231
NM_001081.3(CUBN):c.4797G>T (p.Leu1599Phe) rs201294291
NM_001081.3(CUBN):c.4811G>T (p.Gly1604Val) rs751110627
NM_001081.3(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615
NM_001081.3(CUBN):c.4872C>T (p.Ile1624=) rs114958584
NM_001081.3(CUBN):c.489+14T>C rs886046882
NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940
NM_001081.3(CUBN):c.5069C>T (p.Ala1690Val) rs141640975
NM_001081.3(CUBN):c.5073C>G (p.Pro1691=) rs200977290
NM_001081.3(CUBN):c.5076C>T (p.Leu1692=) rs886046874
NM_001081.3(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483
NM_001081.3(CUBN):c.5131G>A (p.Ala1711Thr) rs768182223
NM_001081.3(CUBN):c.5134C>T (p.Leu1712=) rs2271468
NM_001081.3(CUBN):c.5189C>T (p.Thr1730Met) rs201958183
NM_001081.3(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.3(CUBN):c.5302A>G (p.Ile1768Val) rs779378713
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.5305G>C (p.Val1769Leu) rs74116778
NM_001081.3(CUBN):c.5343-6A>G rs776579478
NM_001081.3(CUBN):c.5343-8C>A rs2271463
NM_001081.3(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438
NM_001081.3(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462
NM_001081.3(CUBN):c.5569G>A (p.Val1857Met) rs886046873
NM_001081.3(CUBN):c.5680A>G (p.Ile1894Val) rs76789390
NM_001081.3(CUBN):c.5796A>G (p.Glu1932=) rs376536525
NM_001081.3(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305
NM_001081.3(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.3(CUBN):c.5856A>G (p.Ser1952=) rs1801234
NM_001081.3(CUBN):c.5862G>A (p.Lys1954=) rs181991723
NM_001081.3(CUBN):c.5909_5912TACC[1] (p.Thr1972fs) rs765301342
NM_001081.3(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.3(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303
NM_001081.3(CUBN):c.5926+5G>A rs143301088
NM_001081.3(CUBN):c.5961A>G (p.Ala1987=) rs886046872
NM_001081.3(CUBN):c.5967G>C (p.Val1989=) rs139153235
NM_001081.3(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113
NM_001081.3(CUBN):c.6091A>G (p.Thr2031Ala) rs150392211
NM_001081.3(CUBN):c.6124+8C>T rs2271461
NM_001081.3(CUBN):c.6180G>A (p.Gly2060=) rs534571792
NM_001081.3(CUBN):c.618C>T (p.Tyr206=) rs41289313
NM_001081.3(CUBN):c.6263T>C (p.Phe2088Ser) rs74844886
NM_001081.3(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.3(CUBN):c.6277G>A (p.Gly2093Ser) rs759351780
NM_001081.3(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177
NM_001081.3(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939
NM_001081.3(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712
NM_001081.3(CUBN):c.6561G>A (p.Ser2187=) rs11254278
NM_001081.3(CUBN):c.671G>A (p.Arg224His) rs139891639
NM_001081.3(CUBN):c.6729G>A (p.Pro2243=) rs757609735
NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460
NM_001081.3(CUBN):c.6924A>T (p.Ser2308=) rs115303408
NM_001081.3(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389
NM_001081.3(CUBN):c.6997A>G (p.Ile2333Val) rs149507036
NM_001081.3(CUBN):c.7001-4G>A rs886046871
NM_001081.3(CUBN):c.7069T>C (p.Tyr2357His) rs376122892
NM_001081.3(CUBN):c.7070A>C (p.Tyr2357Ser) rs886046870
NM_001081.3(CUBN):c.7106G>T (p.Gly2369Val) rs200593316
NM_001081.3(CUBN):c.7210+9A>G rs117711403
NM_001081.3(CUBN):c.7316C>G (p.Ser2439Ter) rs1564421451
NM_001081.3(CUBN):c.7352-7A>C rs886046869
NM_001081.3(CUBN):c.735C>T (p.Cys245=) rs766772944
NM_001081.3(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556
NM_001081.3(CUBN):c.736G>A (p.Val246Ile) rs760990753
NM_001081.3(CUBN):c.7509G>A (p.Pro2503=) rs201001705
NM_001081.3(CUBN):c.7533A>C (p.Ile2511=) rs748416223
NM_001081.3(CUBN):c.7586G>A (p.Ser2529Asn) rs886046868
NM_001081.3(CUBN):c.758T>C (p.Phe253Ser) rs1801222
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.7797C>T (p.Cys2599=) rs138758085
NM_001081.3(CUBN):c.7798G>A (p.Glu2600Lys) rs766806038
NM_001081.3(CUBN):c.7816C>A (p.Pro2606Thr) rs886046867
NM_001081.3(CUBN):c.7861dup (p.Tyr2621fs) rs1564415858
NM_001081.3(CUBN):c.7868A>C (p.Glu2623Ala) rs115449747
NM_001081.3(CUBN):c.7913-11A>G rs7088988
NM_001081.3(CUBN):c.8021G>A (p.Arg2674His) rs184746130
NM_001081.3(CUBN):c.8062+5G>A rs886046866
NM_001081.3(CUBN):c.8095G>A (p.Val2699Met) rs535261179
NM_001081.3(CUBN):c.8139C>A (p.Thr2713=) rs147742103
NM_001081.3(CUBN):c.814G>A (p.Gly272Arg) rs146035059
NM_001081.3(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835
NM_001081.3(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222
NM_001081.3(CUBN):c.8222C>A (p.Thr2741Asn) rs771697506
NM_001081.3(CUBN):c.8233G>A (p.Asp2745Asn) rs886046865
NM_001081.3(CUBN):c.8254G>T (p.Gly2752Cys) rs747786939
NM_001081.3(CUBN):c.827C>T (p.Thr276Ile) rs886046881
NM_001081.3(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312
NM_001081.3(CUBN):c.8412T>C (p.Gly2804=) rs139990077
NM_001081.3(CUBN):c.8479G>A (p.Glu2827Lys) rs373893072
NM_001081.3(CUBN):c.8502G>A (p.Thr2834=) rs749545791
NM_001081.3(CUBN):c.8599-8C>T rs199774490
NM_001081.3(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238
NM_001081.3(CUBN):c.8656G>A (p.Val2886Met) rs200235278
NM_001081.3(CUBN):c.8671G>A (p.Val2891Ile) rs150488625
NM_001081.3(CUBN):c.8701G>A (p.Val2901Ile) rs201093611
NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) rs45551835
NM_001081.3(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509
NM_001081.3(CUBN):c.8831T>G (p.Met2944Arg) rs544783535
NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534
NM_001081.3(CUBN):c.8908C>T (p.Arg2970Cys) rs562374248
NM_001081.3(CUBN):c.8921C>T (p.Thr2974Met) rs374477671
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.9030T>C (p.Ala3010=) rs1801241
NM_001081.3(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363
NM_001081.3(CUBN):c.9036G>A (p.Pro3012=) rs576867280
NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299
NM_001081.3(CUBN):c.910G>A (p.Glu304Lys) rs78201384
NM_001081.3(CUBN):c.923A>C (p.Glu308Ala) rs886046880
NM_001081.3(CUBN):c.9267C>T (p.Thr3089=) rs200124646
NM_001081.3(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846
NM_001081.3(CUBN):c.939C>T (p.Asn313=) rs1801223
NM_001081.3(CUBN):c.9418G>A (p.Ala3140Thr) rs148491916
NM_001081.3(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_001081.3(CUBN):c.9525G>A (p.Ser3175=) rs199499934
NM_001081.3(CUBN):c.9565A>G (p.Ile3189Val) rs111265129
NM_001081.3(CUBN):c.9597C>T (p.Leu3199=) rs200457480
NM_001081.3(CUBN):c.9618G>A (p.Leu3206=) rs559567467
NM_001081.3(CUBN):c.963C>T (p.Pro321=) rs150309054
NM_001081.3(CUBN):c.9664-9T>G rs145383974
NM_001081.3(CUBN):c.9714T>C (p.Gly3238=) rs141513734
NM_001081.3(CUBN):c.9843A>G (p.Thr3281=) rs703064
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.-260G>C rs28372734
NM_001099274.3(TINF2):c.-266G>A rs35886534
NM_001099274.3(TINF2):c.-91C>T rs36124829
NM_001099274.3(TINF2):c.1074T>C (p.Asp358=) rs886050430
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) rs10141326
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.359A>G (p.Gln120Arg) rs189265179
NM_001099274.3(TINF2):c.400-5del rs769170035
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) rs17102313
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.767G>A (p.Arg256Gln) rs779837822
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.-23G>A rs886051506
NM_001113378.1(FANCI):c.-72C>G rs886051505
NM_001113378.1(FANCI):c.-90T>C rs559714713
NM_001113378.1(FANCI):c.1111A>G (p.Ser371Gly) rs149008055
NM_001113378.1(FANCI):c.1113-10G>C rs756650711
NM_001113378.1(FANCI):c.1114G>A (p.Val372Ile) rs76788798
NM_001113378.1(FANCI):c.1176A>T (p.Ser392=) rs201871288
NM_001113378.1(FANCI):c.1179T>C (p.Tyr393=) rs3743377
NM_001113378.1(FANCI):c.1294-8C>T rs16942931
NM_001113378.1(FANCI):c.1311A>G (p.Arg437=) rs772846275
NM_001113378.1(FANCI):c.1326G>A (p.Glu442=) rs34405660
NM_001113378.1(FANCI):c.1399G>A (p.Val467Ile) rs199726965
NM_001113378.1(FANCI):c.1491A>G (p.Gln497=) rs145349375
NM_001113378.1(FANCI):c.1512+3A>G rs760846523
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) rs144908351
NM_001113378.1(FANCI):c.164C>T (p.Pro55Leu) rs62020347
NM_001113378.1(FANCI):c.1698+15C>T rs9806604
NM_001113378.1(FANCI):c.17T>C (p.Leu6Ser) rs369268726
NM_001113378.1(FANCI):c.1801G>A (p.Val601Ile) rs200007022
NM_001113378.1(FANCI):c.1856T>A (p.Leu619Gln) rs151038616
NM_001113378.1(FANCI):c.1890+3A>G rs886051510
NM_001113378.1(FANCI):c.1900T>A (p.Phe634Ile) rs140965103
NM_001113378.1(FANCI):c.196C>T (p.Arg66Cys) rs143105092
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) rs139814895
NM_001113378.1(FANCI):c.2021G>T (p.Cys674Phe) rs886051511
NM_001113378.1(FANCI):c.2028C>T (p.Ala676=) rs16942969
NM_001113378.1(FANCI):c.2169+12G>A rs886051512
NM_001113378.1(FANCI):c.2225G>C (p.Cys742Ser) rs2283432
NM_001113378.1(FANCI):c.2367G>T (p.Ala789=) rs11857960
NM_001113378.1(FANCI):c.2509G>T (p.Glu837Ter) rs748000458
NM_001113378.1(FANCI):c.2519G>A (p.Arg840His) rs777483611
NM_001113378.1(FANCI):c.257C>T (p.Ala86Val) rs17803620
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) rs118031800
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.2768A>G (p.Tyr923Cys) rs200907824
NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) rs79685648
NM_001113378.1(FANCI):c.2856T>A (p.Thr952=) rs368915464
NM_001113378.1(FANCI):c.288+10C>T rs370505986
NM_001113378.1(FANCI):c.292C>T (p.His98Tyr) rs886051507
NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) rs138675752
NM_001113378.1(FANCI):c.3006+15A>C rs2159081
NM_001113378.1(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896
NM_001113378.1(FANCI):c.3103C>T (p.Leu1035=) rs34462132
NM_001113378.1(FANCI):c.3237G>A (p.Thr1079=) rs767103109
NM_001113378.1(FANCI):c.3241G>A (p.Ala1081Thr) rs375746069
NM_001113378.1(FANCI):c.3247A>G (p.Thr1083Ala) rs886051513
NM_001113378.1(FANCI):c.3400A>G (p.Ile1134Val) rs377630829
NM_001113378.1(FANCI):c.3705C>T (p.Ala1235=) rs185771112
NM_001113378.1(FANCI):c.3721-15G>A rs552581027
NM_001113378.1(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734
NM_001113378.1(FANCI):c.3816+15A>T rs28493988
NM_001113378.1(FANCI):c.3816+17_3816+19delTAT rs374324314
NM_001113378.1(FANCI):c.3846C>T (p.Ser1282=) rs34557339
NM_001113378.1(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) rs1138465
NM_001113378.1(FANCI):c.3925-84_3925-81dup rs1444126104
NM_001113378.1(FANCI):c.467G>A (p.Cys156Tyr) rs112387610
NM_001113378.1(FANCI):c.539T>C (p.Met180Thr) rs139834845
NM_001113378.1(FANCI):c.546-6C>T rs754929965
NM_001113378.1(FANCI):c.606C>T (p.Phe202=) rs886051508
NM_001113378.1(FANCI):c.669+17_669+18delGT rs751881445
NM_001113378.1(FANCI):c.753C>T (p.Asp251=) rs151169233
NM_001113378.1(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_001113378.1(FANCI):c.868G>A (p.Val290Met) rs113772230
NM_001113378.1(FANCI):c.976-13A>T rs145864790
NM_001114636.1(FANCL):c.791-10dupT rs374236117
NM_001130483.2(VRK2):c.41-31_41-28del rs748896681
NM_001159287.1(TPI1):c.*178G>A rs144171030
NM_001159287.1(TPI1):c.*239C>T rs886049811
NM_001159287.1(TPI1):c.*260G>A rs782764628
NM_001159287.1(TPI1):c.*341C>T rs1804544
NM_001159287.1(TPI1):c.*420T>C rs58194764
NM_001159287.1(TPI1):c.*541dup rs201871949
NM_001159287.1(TPI1):c.*542_*544del rs782559646
NM_001159287.1(TPI1):c.*69C>T rs782061169
NM_001159287.1(TPI1):c.101G>A (p.Gly34Asp) rs199634350
NM_001159287.1(TPI1):c.350+8C>A rs782359362
NM_001159287.1(TPI1):c.372C>T (p.Cys124=) rs370863694
NM_001159287.1(TPI1):c.426G>C (p.Glu142Asp) rs121964845
NM_001159287.1(TPI1):c.432T>C (p.Asp144=) rs141972556
NM_001159287.1(TPI1):c.654+5C>G rs782153322
NM_001159287.1(TPI1):c.654+6C>T rs369693539
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.69A>G (p.Arg23=) rs1800200
NM_001159287.1(TPI1):c.742+13G>A rs60115912
NM_001159287.1(TPI1):c.83C>T (p.Thr28Ile) rs181882616
NM_001174125.2(SLC11A2):c.49+1746C>T rs886763852
NM_001174125.2(SLC11A2):c.49+1757C>T rs1057516023
NM_001174126.1(SLC11A2):c.1629+1027A>G rs886049563
NM_001174126.1(SLC11A2):c.1629+1042G>A rs886049562
NM_001174126.1(SLC11A2):c.1629+1043C>A rs886049561
NM_001174126.1(SLC11A2):c.1629+1064A>G rs886049560
NM_001174126.1(SLC11A2):c.1629+1088G>A rs150909
NM_001174126.1(SLC11A2):c.1629+1272A>C rs17125172
NM_001174126.1(SLC11A2):c.1629+1318G>A rs60725885
NM_001174126.1(SLC11A2):c.1629+1330G>A rs11169654
NM_001174126.1(SLC11A2):c.1629+1522dup rs561463670
NM_001174126.1(SLC11A2):c.1629+1543G>T rs116731209
NM_001174126.1(SLC11A2):c.1629+1616G>T rs777649881
NM_001174126.1(SLC11A2):c.1629+1656C>T rs886049559
NM_001174126.1(SLC11A2):c.1629+1800dup rs755515112
NM_001174126.1(SLC11A2):c.1629+1933T>C rs149411
NM_001174126.1(SLC11A2):c.1629+1959C>G rs886049558
NM_001174126.1(SLC11A2):c.1629+2006A>G rs72561485
NM_001174126.1(SLC11A2):c.1629+210A>G rs146016854
NM_001174126.1(SLC11A2):c.1629+2140_1629+2141del rs886049557
NM_001174126.1(SLC11A2):c.1629+2346G>T rs867212578
NM_001174126.1(SLC11A2):c.1629+2377del rs141968385
NM_001174126.1(SLC11A2):c.1629+415A>G rs2285230
NM_001174126.1(SLC11A2):c.1629+447G>A rs224446
NM_001174126.1(SLC11A2):c.1629+472G>A rs765348165
NM_001174126.1(SLC11A2):c.1629+477G>A rs886049564
NM_001174126.1(SLC11A2):c.1629+603G>A rs193030246
NM_001174126.1(SLC11A2):c.1629+68G>A rs201382454
NM_001174126.1(SLC11A2):c.1629+89A>G rs886049565
NM_001174126.1(SLC11A2):c.1629+929A>C rs73297974
NM_001289000.2(TMPRSS6):c.-1-241G>A rs5756516
NM_001319667.1(SLC19A2):c.-196C>A rs72542444
NM_001354703.2(TF):c.-89-2036G>C rs41298275
NM_001354703.2(TF):c.-89-2055G>T rs8177186
NM_001354703.2(TF):c.-89-2088G>A rs540606355
NM_001710.5(CFB):c.*16A>T rs749158582
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.-3G>A rs755016493
NM_001710.5(CFB):c.1037-10C>G rs201659953
NM_001710.5(CFB):c.1037-10C>T 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.1227A>G (p.Leu409=) rs761050063
NM_001710.5(CFB):c.1365C>T (p.Val455=) rs2072634
NM_001710.5(CFB):c.1407C>G (p.Ile469Met) rs201798809
NM_001710.5(CFB):c.1524C>A (p.His508Gln) rs138207668
NM_001710.5(CFB):c.1524C>T (p.His508=) rs138207668
NM_001710.5(CFB):c.1593T>C (p.Asp531=) rs886061296
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.1889C>T (p.Ala630Val) rs886061297
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.291G>A (p.Glu97=) rs138236643
NM_001710.5(CFB):c.321C>T (p.His107=) rs767428982
NM_001710.5(CFB):c.405C>T (p.Tyr135=) rs4151650
NM_001710.5(CFB):c.450A>G (p.Arg150=) rs1048709
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.656A>T (p.Gln219Leu) rs886061295
NM_001710.5(CFB):c.672C>T (p.Tyr224=) rs4151670
NM_001710.5(CFB):c.720G>A (p.Glu240=) rs753831049
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_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153
NM_001849.3(COL6A2):c.*116T>C rs3087667
NM_001849.3(COL6A2):c.*119A>G rs1043962
NM_001849.3(COL6A2):c.*158C>T rs11554666
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.2724A>G (p.Thr908=) rs9977394
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.*1099A>G rs886045842
NM_002389.4(CD46):c.*1111C>G rs193023975
NM_002389.4(CD46):c.*1435T>C rs14374
NM_002389.4(CD46):c.*1498G>T rs117431447
NM_002389.4(CD46):c.*1641A>G rs886045843
NM_002389.4(CD46):c.*1659A>G rs886045844
NM_002389.4(CD46):c.*1665G>A rs886045845
NM_002389.4(CD46):c.*180T>C rs886045840
NM_002389.4(CD46):c.*1875T>G rs1237
NM_002389.4(CD46):c.*1888C>T rs886045846
NM_002389.4(CD46):c.*1963C>T rs886045847
NM_002389.4(CD46):c.*31A>G rs886045839
NM_002389.4(CD46):c.*503A>G rs2724390
NM_002389.4(CD46):c.*517T>A rs539666226
NM_002389.4(CD46):c.*52G>A rs373138507
NM_002389.4(CD46):c.*614T>C rs561506830
NM_002389.4(CD46):c.*897T>C rs7144
NM_002389.4(CD46):c.*918G>A rs6664092
NM_002389.4(CD46):c.*920A>G rs886045841
NM_002389.4(CD46):c.*968T>A rs768037862
NM_002389.4(CD46):c.-6C>T rs886045836
NM_002389.4(CD46):c.1058C>T (p.Ala353Val) rs35366573
NM_002389.4(CD46):c.1128-10C>T rs41317997
NM_002389.4(CD46):c.118A>G (p.Thr40Ala) rs753924720
NM_002389.4(CD46):c.276C>T (p.Asp92=) rs148383499
NM_002389.4(CD46):c.574G>C (p.Asp192His) rs368371683
NM_002389.4(CD46):c.901+4T>A rs886045837
NM_002389.4(CD46):c.905C>T (p.Ser302Leu) rs751860518
NM_002389.4(CD46):c.932C>T (p.Ala311Val) rs753859532
NM_002389.4(CD46):c.946+9A>G rs370112627
NM_002389.4(CD46):c.994C>G (p.Pro332Ala) rs886045838
NM_002693.2(POLG):c.*122G>A rs886051517
NM_002693.2(POLG):c.*49G>A rs758880377
NM_002693.2(POLG):c.*49dup rs3087377
NM_002693.2(POLG):c.*63A>G rs552236933
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) rs2307431
NM_002693.2(POLG):c.3105-11T>C rs2302084
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.2(POLG):c.3643+257T>G rs1061316
NM_002693.2(POLG):c.3643+258A>G rs1860021
NM_002693.2(POLG):c.3644-116T>C rs777372106
NM_002693.2(POLG):c.3644-16T>C rs536522307
NM_002693.2(POLG):c.3644-178_3644-176dup rs1555452148
NM_002693.2(POLG):c.3644-246A>C rs886051521
NM_002693.2(POLG):c.3644-72C>A rs1801377
NM_002693.2(POLG):c.3644-99C>T rs3176241
NM_002693.2(POLG):c.3644-9A>G rs115048121
NM_002693.2(POLG):c.3700C>G (p.Arg1234Gly) rs144346886
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374
NM_004629.1(FANCG):c.*101A>G rs751616369
NM_004629.1(FANCG):c.*250C>T rs535188841
NM_004629.1(FANCG):c.-182delG rs886063899
NM_004629.1(FANCG):c.-311T>A rs886063900
NM_004629.1(FANCG):c.-348A>G rs376750755
NM_004629.1(FANCG):c.-392A>G rs10972302
NM_004629.1(FANCG):c.-450G>C rs535301610
NM_004629.1(FANCG):c.-453_-452insT rs16935545
NM_004629.1(FANCG):c.-488G>A rs752617227
NM_004629.1(FANCG):c.-490G>T rs10972303
NM_004629.1(FANCG):c.-491G>A rs886063901
NM_004629.1(FANCG):c.-504A>T rs17885140
NM_004629.1(FANCG):c.-93C>G rs532840867
NM_004629.1(FANCG):c.1133C>T (p.Ser378Leu) rs4986939
NM_004629.1(FANCG):c.1252G>A (p.Glu418Lys) rs886063896
NM_004629.1(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.1(FANCG):c.1636+7A>G rs587118
NM_004629.1(FANCG):c.1638T>C (p.Gly546=) rs45537335
NM_004629.1(FANCG):c.1689G>C (p.Arg563=) rs138855718
NM_004629.1(FANCG):c.1808C>T (p.Ser603Phe) rs17878854
NM_004629.1(FANCG):c.238C>T (p.Leu80=) rs115131067
NM_004629.1(FANCG):c.682G>A (p.Ala228Thr) rs765095688
NM_004629.1(FANCG):c.880G>A (p.Gly294Arg) rs886063897
NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) rs2237857
NM_004629.1(FANCG):c.957G>A (p.Pro319=) rs145092954
NM_005142.3(CBLIF):c.*56T>G rs886048401
NM_005142.3(CBLIF):c.1107C>T (p.Val369=) rs537424617
NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn) rs144916324
NM_005142.3(CBLIF):c.218A>G (p.Lys73Arg) rs139444835
NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter) rs1565210437
NM_005142.3(CBLIF):c.246C>T (p.Ser82=) rs35792306
NM_005142.3(CBLIF):c.247G>A (p.Asp83Asn) rs115964827
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) rs150884181
NM_005142.3(CBLIF):c.371-15C>T rs759810252
NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr) rs760404861
NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu) rs148081315
NM_005142.3(CBLIF):c.524T>C (p.Met175Thr) rs886048404
NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) rs35211634
NM_005142.3(CBLIF):c.764A>G (p.Asn255Ser) rs35867471
NM_005142.3(CBLIF):c.79+1G>A rs147785187
NM_005142.3(CBLIF):c.79+3G>A rs146396839
NM_005142.3(CBLIF):c.834G>C (p.Lys278Asn) rs886048403
NM_005142.3(CBLIF):c.854A>G (p.Gln285Arg) rs886048402
NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser) rs150926439
NM_005142.3(CBLIF):c.990C>T (p.Asn330=) rs2867802
NM_005373.2(MPL):c.*1054G>A rs139528456
NM_005373.2(MPL):c.*1112G>A rs543515941
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.*1216A>G rs886046356
NM_005373.2(MPL):c.*1351T>C rs886046357
NM_005373.2(MPL):c.*1486T>C rs149940158
NM_005373.2(MPL):c.*1506G>A rs115780311
NM_005373.2(MPL):c.*1506G>C 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.*657C>T rs886046352
NM_005373.2(MPL):c.*662C>T rs1763698
NM_005373.2(MPL):c.*701_*705dupTTTTT rs752218261
NM_005373.2(MPL):c.*705delT rs752218261
NM_005373.2(MPL):c.*709C>T rs185654501
NM_005373.2(MPL):c.*748C>T rs190071085
NM_005373.2(MPL):c.*86C>T rs777930147
NM_005373.2(MPL):c.*871G>A rs540648773
NM_005373.2(MPL):c.*882C>T rs777894453
NM_005373.2(MPL):c.*924C>G rs886046354
NM_005373.2(MPL):c.*94C>A rs77858532
NM_005373.2(MPL):c.*971G>A rs886046355
NM_005373.2(MPL):c.1003G>A (p.Glu335Lys) rs139770726
NM_005373.2(MPL):c.1051C>T (p.Arg351Cys) rs201998783
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.1238C>T (p.Pro413Leu) rs886046350
NM_005373.2(MPL):c.1331C>A (p.Ala444Asp) rs886046351
NM_005373.2(MPL):c.1337G>A (p.Gly446Glu) rs561724539
NM_005373.2(MPL):c.1467C>T (p.Thr489=) rs759161511
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.196C>T (p.Leu66=) rs886046349
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.690+11C>T rs144769485
NM_005373.2(MPL):c.690A>G (p.Glu230=) rs16830693
NM_005373.2(MPL):c.754T>C (p.Tyr252His) rs141311765
NM_005373.2(MPL):c.854-3T>C rs201514537
NM_005373.2(MPL):c.95C>T (p.Ala32Val) rs886046348
NM_005373.2(MPL):c.962G>A (p.Arg321Gln) rs149265851
NM_006363.6(SEC23B):c.*292T>G rs886056526
NM_006363.6(SEC23B):c.*318dup rs397793825
NM_006363.6(SEC23B):c.*448C>T rs550932027
NM_006363.6(SEC23B):c.*493A>G rs886056527
NM_006363.6(SEC23B):c.*494T>C rs561479544
NM_006363.6(SEC23B):c.*657A>G rs114937628
NM_006363.6(SEC23B):c.*9_*10del rs142180765
NM_006363.6(SEC23B):c.-186G>T rs138178711
NM_006363.6(SEC23B):c.-232C>G rs4813333
NM_006363.6(SEC23B):c.-24C>T rs115614151
NM_006363.6(SEC23B):c.-283C>T rs886056522
NM_006363.6(SEC23B):c.-301G>A rs886056521
NM_006363.6(SEC23B):c.-394A>C rs561908920
NM_006363.6(SEC23B):c.-52T>G rs191103191
NM_006363.6(SEC23B):c.-57G>C rs113396443
NM_006363.6(SEC23B):c.-76G>C rs373348732
NM_006363.6(SEC23B):c.-80G>A rs886056524
NM_006363.6(SEC23B):c.-8T>C rs766083236
NM_006363.6(SEC23B):c.-94C>G rs886056523
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu) rs142461689
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter) rs1403456625
NM_006363.6(SEC23B):c.1233+25dup rs57738665
NM_006363.6(SEC23B):c.1233+9A>G rs6081189
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.1299G>A (p.Pro433=) rs767683935
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=) rs146587686
NM_006363.6(SEC23B):c.1405-7C>T rs2273525
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln) rs2273526
NM_006363.6(SEC23B):c.1483C>T (p.Arg495Cys) rs768018657
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=) rs147036760
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=) rs139882548
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532
NM_006363.6(SEC23B):c.2150del (p.Ala717fs) rs1334741748
NM_006363.6(SEC23B):c.2227C>T (p.Pro743Ser) rs375734554
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587
NM_006363.6(SEC23B):c.301A>G (p.Ile101Val) rs754320262
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840
NM_006363.6(SEC23B):c.816T>C (p.Ile272=) rs115177758
NM_006363.6(SEC23B):c.85C>T (p.Leu29=) rs886056525
NM_006563.4(KLF1):c.*185G>A rs137908457
NM_006563.4(KLF1):c.*22T>A rs149022596
NM_006563.4(KLF1):c.*254C>T rs564687827
NM_006563.4(KLF1):c.*263C>T rs867980189
NM_006563.4(KLF1):c.*277C>T rs16978757
NM_006563.4(KLF1):c.*291A>G rs531279487
NM_006563.4(KLF1):c.*296G>A rs16978754
NM_006563.4(KLF1):c.*311A>G rs767532783
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.255G>A (p.Pro85=) rs886054238
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.304T>C (p.Ser102Pro) rs2072597
NM_006563.4(KLF1):c.311C>T (p.Ala104Val) rs182276666
NM_006563.4(KLF1):c.325C>T (p.Pro109Ser) rs117351327
NM_006563.4(KLF1):c.353G>A (p.Gly118Asp) rs886054237
NM_006563.4(KLF1):c.478G>A (p.Glu160Lys) rs772655521
NM_006563.4(KLF1):c.520G>T (p.Gly174Cys) rs566095433
NM_006563.4(KLF1):c.544T>C (p.Phe182Leu) rs2072596
NM_006563.4(KLF1):c.606G>A (p.Gly202=) rs886054236
NM_006563.4(KLF1):c.629C>G (p.Pro210Arg) rs530729436
NM_006563.4(KLF1):c.690C>T (p.Ala230=) rs775669419
NM_006657.2(FTCD):c.1443+9delG rs372045405
NM_006657.2(FTCD):c.1540-17_1540-16delTT rs747091513
NM_006657.3(FTCD):c.*113C>T rs886057173
NM_006657.3(FTCD):c.*114A>G rs886057172
NM_006657.3(FTCD):c.*127C>A rs538433909
NM_006657.3(FTCD):c.*15C>A rs114980528
NM_006657.3(FTCD):c.*55A>G rs752959852
NM_006657.3(FTCD):c.*67C>T rs139773262
NM_006947.4(SRP72):c.*1227_*1232del rs886059502
NM_006947.4(SRP72):c.*125_*126GT[1] rs886059498
NM_006947.4(SRP72):c.*1313C>G rs113719942
NM_006947.4(SRP72):c.*139G>A rs28438730
NM_006947.4(SRP72):c.*1603A>G rs1142851
NM_006947.4(SRP72):c.*1678C>T rs886059503
NM_006947.4(SRP72):c.*173T>C rs10051
NM_006947.4(SRP72):c.*1764A>G rs192226722
NM_006947.4(SRP72):c.*1769T>G rs886059504
NM_006947.4(SRP72):c.*194G>A rs188713088
NM_006947.4(SRP72):c.*221A>G rs149250989
NM_006947.4(SRP72):c.*227G>A rs879875987
NM_006947.4(SRP72):c.*24G>A rs144710632
NM_006947.4(SRP72):c.*321A>G rs886059499
NM_006947.4(SRP72):c.*386G>A rs4260596
NM_006947.4(SRP72):c.*407T>C rs541665813
NM_006947.4(SRP72):c.*442A>G rs7762
NM_006947.4(SRP72):c.*558T>C rs568178342
NM_006947.4(SRP72):c.*606A>T rs868279024
NM_006947.4(SRP72):c.*606_*607AT[10] rs201131530
NM_006947.4(SRP72):c.*622_*649del rs59791697
NM_006947.4(SRP72):c.*635C>T rs200981113
NM_006947.4(SRP72):c.*637_*638TA[11] rs35852754
NM_006947.4(SRP72):c.*637_*638TA[7] rs35852754
NM_006947.4(SRP72):c.*637_*638TA[9] rs35852754
NM_006947.4(SRP72):c.*732A>G rs14211
NM_006947.4(SRP72):c.*780C>T rs10518
NM_006947.4(SRP72):c.*839T>C rs757066668
NM_006947.4(SRP72):c.*972G>A rs189886380
NM_006947.4(SRP72):c.1225-6G>A rs752594366
NM_006947.4(SRP72):c.133G>A (p.Val45Ile) rs201940585
NM_006947.4(SRP72):c.1380T>C (p.Tyr460=) rs73818109
NM_006947.4(SRP72):c.1410A>G (p.Leu470=) rs17086879
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.1671A>G (p.Lys557=) rs34419325
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.19G>T (p.Gly7Trp) rs17524437
NM_006947.4(SRP72):c.2004A>G (p.Lys668=) rs148068843
NM_006947.4(SRP72):c.20G>A (p.Gly7Glu) rs139502866
NM_006947.4(SRP72):c.21G>T (p.Gly7=) rs12513091
NM_006947.4(SRP72):c.23G>A (p.Gly8Glu) rs760960779
NM_006947.4(SRP72):c.294G>A (p.Leu98=) rs145137299
NM_006947.4(SRP72):c.37G>T (p.Ala13Ser) rs781230154
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.686A>G (p.His229Arg) rs138986942
NM_006947.4(SRP72):c.789A>G (p.Leu263=) rs77935196
NM_006947.4(SRP72):c.973A>G (p.Lys325Glu) rs763655714
NM_006996.2(SLC19A2):c.205-14dupT rs755410874
NM_006996.2(SLC19A2):c.205-15_205-14dupTT rs755410874
NM_006996.3(SLC19A2):c.*1493G>A rs886045524
NM_006996.3(SLC19A2):c.*1523A>G rs886045523
NM_006996.3(SLC19A2):c.*1524C>T rs79478264
NM_006996.3(SLC19A2):c.*1539_*1542CTGT[1] rs886045522
NM_006996.3(SLC19A2):c.*1588T>G rs886045521
NM_006996.3(SLC19A2):c.*1814G>A rs12091844
NM_006996.3(SLC19A2):c.*1901_*1904AATA[1] rs745730912
NM_006996.3(SLC19A2):c.*255A>T rs562829928
NM_006996.3(SLC19A2):c.*390T>G rs886045528
NM_006996.3(SLC19A2):c.*60G>A rs2678166
NM_006996.3(SLC19A2):c.*627C>T rs886045527
NM_006996.3(SLC19A2):c.*638G>A rs757466309
NM_006996.3(SLC19A2):c.*712dup rs886045526
NM_006996.3(SLC19A2):c.*898_*899del rs886045525
NM_006996.3(SLC19A2):c.*967A>G rs16862199
NM_006996.3(SLC19A2):c.-103G>A rs886045532
NM_006996.3(SLC19A2):c.-114C>T rs145285893
NM_006996.3(SLC19A2):c.-12C>G rs772886076
NM_006996.3(SLC19A2):c.-163G>T rs886045533
NM_006996.3(SLC19A2):c.-2G>A rs886045531
NM_006996.3(SLC19A2):c.-4C>T rs2072757
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682
NM_006996.3(SLC19A2):c.10C>T (p.Pro4Ser) rs886045530
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) rs61049753
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484
NM_006996.3(SLC19A2):c.1436T>C (p.Met479Thr) rs374046494
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala) rs769397647
NM_006996.3(SLC19A2):c.212A>G (p.Asn71Ser) rs149595229
NM_006996.3(SLC19A2):c.283C>T (p.Leu95Phe) rs759321228
NM_006996.3(SLC19A2):c.487A>T (p.Ser163Cys) rs548333207
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=) rs150548640
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) rs137970656
NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe) rs770374931
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=) rs201489069
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) rs75099879
NM_006996.3(SLC19A2):c.807+6C>G rs201700843
NM_006996.3(SLC19A2):c.808-1G>A rs1557889336
NM_006996.3(SLC19A2):c.845T>C (p.Leu282Pro) rs886045529
NM_007055.4(POLR3A):c.-103T>A rs117201371
NM_007055.4(POLR3A):c.-35C>G rs201700756
NM_012062.5(DNM1L):c.*1093T>C rs1971910
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.*671G>A rs886050429
NM_012461.3(TINF2):c.*709T>C rs183352266
NM_012461.3(TINF2):c.-223C>G rs886050434
NM_012461.3(TINF2):c.-277C>G rs886050435
NM_012461.3(TINF2):c.-316G>A rs886050436
NM_012461.3(TINF2):c.-50A>G rs886050432
NM_012461.3(TINF2):c.-93T>C rs886050433
NM_012461.3(TINF2):c.507+5C>T rs761308889
NM_012461.3(TINF2):c.62A>G (p.Gln21Arg) rs367835995
NM_012461.3(TINF2):c.682C>T (p.His228Tyr) rs886050431
NM_014646.2(LPIN2):c.*1021G>A rs886053751
NM_014646.2(LPIN2):c.*1026C>T rs529650414
NM_014646.2(LPIN2):c.*1027G>A rs551503883
NM_014646.2(LPIN2):c.*1052T>C rs59566682
NM_014646.2(LPIN2):c.*1077C>G rs563088438
NM_014646.2(LPIN2):c.*1126G>A rs886053750
NM_014646.2(LPIN2):c.*1179G>A rs147362027
NM_014646.2(LPIN2):c.*1220G>A rs886053749
NM_014646.2(LPIN2):c.*1418G>A rs552844041
NM_014646.2(LPIN2):c.*1462A>G rs560770304
NM_014646.2(LPIN2):c.*1502G>A rs113346639
NM_014646.2(LPIN2):c.*1514G>A rs544570644
NM_014646.2(LPIN2):c.*1514G>C rs544570644
NM_014646.2(LPIN2):c.*151G>A rs571000282
NM_014646.2(LPIN2):c.*1559A>G rs886053748
NM_014646.2(LPIN2):c.*1586G>A rs144299426
NM_014646.2(LPIN2):c.*158G>A rs547872442
NM_014646.2(LPIN2):c.*1622T>C rs111366726
NM_014646.2(LPIN2):c.*1691A>G rs112588494
NM_014646.2(LPIN2):c.*1742A>G rs551448975
NM_014646.2(LPIN2):c.*1827G>A rs886053747
NM_014646.2(LPIN2):c.*1874C>G rs75771450
NM_014646.2(LPIN2):c.*2076C>A rs112529707
NM_014646.2(LPIN2):c.*2103G>A rs561577089
NM_014646.2(LPIN2):c.*217G>T rs886053763
NM_014646.2(LPIN2):c.*2197_*2198delTT rs55834965
NM_014646.2(LPIN2):c.*2216C>A rs886053746
NM_014646.2(LPIN2):c.*2241T>C rs16944033
NM_014646.2(LPIN2):c.*2390C>T rs555969171
NM_014646.2(LPIN2):c.*2412C>T rs553336397
NM_014646.2(LPIN2):c.*2493C>G rs8091401
NM_014646.2(LPIN2):c.*251C>T rs563023966
NM_014646.2(LPIN2):c.*252G>A rs886053762
NM_014646.2(LPIN2):c.*2691_*2696delGAAAAA rs777601819
NM_014646.2(LPIN2):c.*2724A>G rs886053744
NM_014646.2(LPIN2):c.*2759A>C rs886053743
NM_014646.2(LPIN2):c.*275C>G rs886053761
NM_014646.2(LPIN2):c.*2787C>G rs886053742
NM_014646.2(LPIN2):c.*2822C>T rs73375246
NM_014646.2(LPIN2):c.*2830C>T rs886053741
NM_014646.2(LPIN2):c.*2833_*2834delCA rs886053740
NM_014646.2(LPIN2):c.*2866A>C rs17880885
NM_014646.2(LPIN2):c.*2890_*2893dupTTTC rs540600202
NM_014646.2(LPIN2):c.*2923C>T rs202079191
NM_014646.2(LPIN2):c.*2924delC rs148191039
NM_014646.2(LPIN2):c.*2934C>T rs7980
NM_014646.2(LPIN2):c.*2946G>A rs4781
NM_014646.2(LPIN2):c.*2999C>A rs138807947
NM_014646.2(LPIN2):c.*3015T>C rs14916
NM_014646.2(LPIN2):c.*3068A>T rs1985
NM_014646.2(LPIN2):c.*3139A>G rs1164
NM_014646.2(LPIN2):c.*3217A>G rs767074158
NM_014646.2(LPIN2):c.*3280C>T rs751266426
NM_014646.2(LPIN2):c.*358G>A rs184193388
NM_014646.2(LPIN2):c.*362T>C rs886053760
NM_014646.2(LPIN2):c.*3C>T rs3745012
NM_014646.2(LPIN2):c.*448C>T rs886053759
NM_014646.2(LPIN2):c.*493G>A rs886053758
NM_014646.2(LPIN2):c.*501T>C rs35176958
NM_014646.2(LPIN2):c.*506C>T rs886053757
NM_014646.2(LPIN2):c.*507T>C rs886053756
NM_014646.2(LPIN2):c.*557G>A rs112795993
NM_014646.2(LPIN2):c.*637G>A rs118142692
NM_014646.2(LPIN2):c.*657A>C rs16944040
NM_014646.2(LPIN2):c.*666C>T rs186189096
NM_014646.2(LPIN2):c.*685T>A rs607549
NM_014646.2(LPIN2):c.*703dupG rs200435334
NM_014646.2(LPIN2):c.*723A>G rs76325993
NM_014646.2(LPIN2):c.*725G>A rs886053755
NM_014646.2(LPIN2):c.*767A>G rs886053754
NM_014646.2(LPIN2):c.*792G>C rs542453339
NM_014646.2(LPIN2):c.*796T>C rs567530586
NM_014646.2(LPIN2):c.*797T>G rs3810064
NM_014646.2(LPIN2):c.*805C>G rs146605124
NM_014646.2(LPIN2):c.*813A>C rs547125074
NM_014646.2(LPIN2):c.*823G>A rs747730329
NM_014646.2(LPIN2):c.*833G>A rs540627141
NM_014646.2(LPIN2):c.*834G>A rs886053753
NM_014646.2(LPIN2):c.*84A>G rs886053764
NM_014646.2(LPIN2):c.*897T>G rs886053752
NM_014646.2(LPIN2):c.*903T>A rs78462116
NM_014646.2(LPIN2):c.*947dupA rs3840906
NM_014646.2(LPIN2):c.*950A>C rs3810065
NM_014646.2(LPIN2):c.*99C>T rs143728428
NM_014646.2(LPIN2):c.-10+12T>C rs566304730
NM_014646.2(LPIN2):c.-125G>A rs886053770
NM_014646.2(LPIN2):c.-160C>T rs762246311
NM_014646.2(LPIN2):c.-173A>T rs112648131
NM_014646.2(LPIN2):c.-192C>T rs765741319
NM_014646.2(LPIN2):c.-209G>A rs751000184
NM_014646.2(LPIN2):c.-25A>G rs886053769
NM_014646.2(LPIN2):c.-36C>G rs58940048
NM_014646.2(LPIN2):c.-37C>G rs59096963
NM_014646.2(LPIN2):c.-66C>T rs116643915
NM_014646.2(LPIN2):c.1099G>A (p.Ala367Thr) rs540544894
NM_014646.2(LPIN2):c.1132C>T (p.Pro378Ser) rs201678207
NM_014646.2(LPIN2):c.1168+11G>C rs79439091
NM_014646.2(LPIN2):c.1168+6C>T rs200130790
NM_014646.2(LPIN2):c.1169-7delT rs746626720
NM_014646.2(LPIN2):c.1171G>A (p.Val391Ile) rs886053767
NM_014646.2(LPIN2):c.1247C>T (p.Ala416Val) rs777239535
NM_014646.2(LPIN2):c.1395C>T (p.Asp465=) rs143562359
NM_014646.2(LPIN2):c.1404C>T (p.Asp468=) rs376147435
NM_014646.2(LPIN2):c.1456+4C>G rs373685201
NM_014646.2(LPIN2):c.147C>T (p.His49=) rs17886056
NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314
NM_014646.2(LPIN2):c.1783G>C (p.Ala595Pro) rs373929015
NM_014646.2(LPIN2):c.1796C>T (p.Pro599Leu) rs372850864
NM_014646.2(LPIN2):c.1839C>T (p.Leu613=) rs886053766
NM_014646.2(LPIN2):c.1939-2delA rs745529823
NM_014646.2(LPIN2):c.2211C>T (p.Ala737=) rs886053765
NM_014646.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442
NM_014646.2(LPIN2):c.2547-1G>A rs145858312
NM_014646.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_014646.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602
NM_014646.2(LPIN2):c.2657C>T (p.Pro886Leu) rs147203309
NM_014646.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652
NM_014646.2(LPIN2):c.353T>C (p.Ile118Thr) rs181542503
NM_014646.2(LPIN2):c.590+6A>G rs73375280
NM_014646.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528
NM_014646.2(LPIN2):c.932T>A (p.Val311Asp) rs886053768
NM_016038.4(SBDS):c.258+1G>C rs113993992
NM_017875.4(SLC25A38):c.*304C>T rs113251543
NM_017875.4(SLC25A38):c.*310A>T rs12991
NM_017875.4(SLC25A38):c.*370C>T rs886058472
NM_017875.4(SLC25A38):c.*404G>A rs886058473
NM_017875.4(SLC25A38):c.*431G>A rs73058292
NM_017875.4(SLC25A38):c.*472G>T rs141567816
NM_017875.4(SLC25A38):c.*490G>A rs150889211
NM_017875.4(SLC25A38):c.*588T>A rs6890
NM_017875.4(SLC25A38):c.*642del rs34288981
NM_017875.4(SLC25A38):c.*809C>T rs71325527
NM_017875.4(SLC25A38):c.-161G>A rs528990278
NM_017875.4(SLC25A38):c.-209A>G rs143903497
NM_017875.4(SLC25A38):c.-219T>C rs886058469
NM_017875.4(SLC25A38):c.-225G>A rs370977005
NM_017875.4(SLC25A38):c.-227G>A rs886058468
NM_017875.4(SLC25A38):c.-237G>A rs527536267
NM_017875.4(SLC25A38):c.-292G>A rs142441701
NM_017875.4(SLC25A38):c.-303A>C rs114422738
NM_017875.4(SLC25A38):c.-325G>C rs886058467
NM_017875.4(SLC25A38):c.-69C>T rs886058470
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) rs142420345
NM_017875.4(SLC25A38):c.161G>A (p.Arg54His) rs144319567
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=) rs2270770
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) rs144149294
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=) rs765578993
NM_017875.4(SLC25A38):c.382A>G (p.Met128Val) rs146940902
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys) rs1293528130
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met) rs143865753
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) rs369980078
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) rs121918331
NM_017875.4(SLC25A38):c.570C>A (p.Pro190=) rs886058471
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His) rs146864395
NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe) rs764125735
NM_018062.3(FANCL):c.*165A>G rs866675905
NM_018062.3(FANCL):c.*296C>T rs201610023
NM_018062.3(FANCL):c.*333A>G rs147811379
NM_018062.3(FANCL):c.-13C>T rs757714548
NM_018062.3(FANCL):c.-39A>C rs41281511
NM_018062.3(FANCL):c.-39A>G rs41281511
NM_018062.3(FANCL):c.-40C>A rs199661008
NM_018062.3(FANCL):c.-44C>T rs780348127
NM_018062.3(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294
NM_018062.3(FANCL):c.1096_1099dup (p.Thr367fs) rs759217526
NM_018062.3(FANCL):c.217-11T>C rs79588315
NM_018062.3(FANCL):c.670A>G (p.Thr224Ala) rs149731356
NM_018062.3(FANCL):c.755T>G (p.Phe252Cys) rs139801716
NM_018062.3(FANCL):c.932dup (p.Tyr311Ter) rs529201454
NM_018062.3(FANCL):c.969G>A (p.Val323=) rs200819615
NM_018062.3(FANCL):c.981T>C (p.Ser327=) rs848291
NM_018081.2(WRAP53):c.18_19del (p.Gln7fs) rs764437508
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546
NM_018648.3(NOP10):c.6del (p.Leu3fs) rs756134994
NM_020937.3(FANCM):c.1397-3_1397-2delTA rs112326758
NM_020937.3(FANCM):c.4516-5_4516-2delCTTA rs796584585
NM_020937.4(FANCM):c.*100_*103TTTA[1] rs886050504
NM_020937.4(FANCM):c.*140_*144del rs886050505
NM_020937.4(FANCM):c.*232G>A rs7155480
NM_020937.4(FANCM):c.*254dup rs112491585
NM_020937.4(FANCM):c.*368C>G rs886050507
NM_020937.4(FANCM):c.*375A>G rs749001988
NM_020937.4(FANCM):c.*546C>G rs886050508
NM_020937.4(FANCM):c.*756G>A rs886050509
NM_020937.4(FANCM):c.*797T>C rs886050510
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.1394A>G (p.Asn465Ser) rs747572587
NM_020937.4(FANCM):c.1539A>G (p.Ser513=) rs886050499
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) rs142007602
NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys) rs202171930
NM_020937.4(FANCM):c.1760T>C (p.Ile587Thr) rs147805461
NM_020937.4(FANCM):c.1880G>C (p.Arg627Pro) rs777379515
NM_020937.4(FANCM):c.1964A>G (p.Asn655Ser) rs61753893
NM_020937.4(FANCM):c.2160+10A>G rs767254996
NM_020937.4(FANCM):c.2190A>G (p.Gln730=) rs117392855
NM_020937.4(FANCM):c.2240A>G (p.His747Arg) rs181827583
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala) rs61746895
NM_020937.4(FANCM):c.2339A>C (p.Glu780Ala) rs149856496
NM_020937.4(FANCM):c.2389C>G (p.Pro797Ala) rs144771929
NM_020937.4(FANCM):c.2445G>A (p.Ser815=) rs61745871
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu) rs1367580
NM_020937.4(FANCM):c.2670T>C (p.Phe890=) rs8017226
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu) rs142904668
NM_020937.4(FANCM):c.2734A>G (p.Ile912Val) rs45568842
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val) rs148871932
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437
NM_020937.4(FANCM):c.3040G>T (p.Gly1014Cys) rs77532752
NM_020937.4(FANCM):c.3096T>C (p.Asp1032=) rs199507375
NM_020937.4(FANCM):c.3327T>C (p.Asn1109=) rs886050500
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser) rs45604036
NM_020937.4(FANCM):c.3758A>T (p.Asn1253Ile) rs45604036
NM_020937.4(FANCM):c.390C>T (p.Arg130=) rs147395934
NM_020937.4(FANCM):c.3998A>C (p.Gln1333Pro) rs143681767
NM_020937.4(FANCM):c.4047A>G (p.Ser1349=) rs772889740
NM_020937.4(FANCM):c.4102G>A (p.Val1368Ile) rs886050501
NM_020937.4(FANCM):c.4222+7T>G rs148675704
NM_020937.4(FANCM):c.4261G>A (p.Glu1421Lys) rs886050502
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968
NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val) rs78211950
NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp) rs113986680
NM_020937.4(FANCM):c.4606A>G (p.Asn1536Asp) rs375640203
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe) rs139536545
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.4878T>C (p.Asp1626=) rs150389713
NM_020937.4(FANCM):c.4933C>T (p.Arg1645Cys) rs186197572
NM_020937.4(FANCM):c.496G>A (p.Ala166Thr) rs369365858
NM_020937.4(FANCM):c.508+5C>G rs886050497
NM_020937.4(FANCM):c.5097A>G (p.Lys1699=) rs886050503
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg) rs146897650
NM_020937.4(FANCM):c.5142G>A (p.Ala1714=) rs111894696
NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu) rs750384175
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) rs143662421
NM_020937.4(FANCM):c.524C>T (p.Ser175Phe) rs10138997
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) rs77374493
NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala) rs3736772
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg) rs368937236
NM_020937.4(FANCM):c.555A>G (p.Arg185=) rs886050498
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser) rs45557033
NM_020937.4(FANCM):c.5824G>A (p.Ala1942Thr) rs759078220
NM_020937.4(FANCM):c.5887A>G (p.Thr1963Ala) rs757062269
NM_020937.4(FANCM):c.6138T>G (p.Ser2046=) rs746677351
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=) rs8018014
NM_020937.4(FANCM):c.926A>C (p.Glu309Ala) rs143006771
NM_020937.4(FANCM):c.92G>T (p.Arg31Leu) rs886050496
NM_021922.2(FANCE):c.*151A>G rs16876572
NM_021922.2(FANCE):c.*216delC rs45584740
NM_021922.2(FANCE):c.*322C>T rs559999264
NM_021922.2(FANCE):c.*401G>C rs886061333
NM_021922.2(FANCE):c.*729A>G rs886061334
NM_021922.2(FANCE):c.-100C>T rs374493565
NM_021922.2(FANCE):c.-105C>T rs886061326
NM_021922.2(FANCE):c.-132A>G rs886061325
NM_021922.2(FANCE):c.-182G>A rs886061324
NM_021922.2(FANCE):c.-19G>C rs13215706
NM_021922.2(FANCE):c.-56C>T rs4713866
NM_021922.2(FANCE):c.1007T>C (p.Leu336Pro) rs886061330
NM_021922.2(FANCE):c.1018G>C (p.Gly340Arg) rs45524646
NM_021922.2(FANCE):c.1071C>T (p.Leu357=) rs3823434
NM_021922.2(FANCE):c.1290G>T (p.Glu430Asp) rs886061331
NM_021922.2(FANCE):c.1333C>T (p.Pro445Ser) rs141551053
NM_021922.2(FANCE):c.1378C>T (p.Arg460Trp) rs200535245
NM_021922.2(FANCE):c.1424A>G (p.Lys475Arg) rs200083899
NM_021922.2(FANCE):c.1504G>A (p.Ala502Thr) rs9462088
NM_021922.2(FANCE):c.1510-11C>T rs189384185
NM_021922.2(FANCE):c.1572G>A (p.Arg524=) rs115195341
NM_021922.2(FANCE):c.1593G>A (p.Leu531=) rs886061332
NM_021922.2(FANCE):c.216G>T (p.Pro72=) rs886061328
NM_021922.2(FANCE):c.229C>A (p.Pro77Thr) rs587778335
NM_021922.2(FANCE):c.248+7C>A rs186563531
NM_021922.2(FANCE):c.253C>T (p.Pro85Ser) rs145068586
NM_021922.2(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_021922.2(FANCE):c.480C>A (p.Cys160Ter) rs45509302
NM_021922.2(FANCE):c.4G>C (p.Ala2Pro) rs886061327
NM_021922.2(FANCE):c.552A>C (p.Pro184=) rs138182352
NM_021922.2(FANCE):c.611C>T (p.Ser204Leu) rs7761870
NM_021922.2(FANCE):c.696G>A (p.Glu232=) rs147356927
NM_021922.2(FANCE):c.862C>T (p.Leu288Phe) rs886061329
NM_021922.2(FANCE):c.977T>G (p.Leu326Trp) rs779336261
NM_022725.3(FANCF):c.*106T>C rs16909782
NM_022725.3(FANCF):c.*1094A>G rs544116147
NM_022725.3(FANCF):c.*1119T>A rs558392453
NM_022725.3(FANCF):c.*1190C>A rs750376328
NM_022725.3(FANCF):c.*1338dupA rs45554234
NM_022725.3(FANCF):c.*1509G>C rs886048153
NM_022725.3(FANCF):c.*1525T>G rs886048152
NM_022725.3(FANCF):c.*1535T>A rs886048151
NM_022725.3(FANCF):c.*1629C>T rs10500938
NM_022725.3(FANCF):c.*1630G>A rs559054290
NM_022725.3(FANCF):c.*1632G>C rs886048150
NM_022725.3(FANCF):c.*1696G>A rs886048149
NM_022725.3(FANCF):c.*1879T>C rs45553340
NM_022725.3(FANCF):c.*2071A>G rs886048148
NM_022725.3(FANCF):c.*207C>T rs4447177
NM_022725.3(FANCF):c.*2123G>A rs45625034
NM_022725.3(FANCF):c.*287C>T rs886048156
NM_022725.3(FANCF):c.*319A>G rs12294705
NM_022725.3(FANCF):c.*499T>C rs566136504
NM_022725.3(FANCF):c.*565A>G rs886048155
NM_022725.3(FANCF):c.*597G>A rs373336301
NM_022725.3(FANCF):c.*624G>C rs768178918
NM_022725.3(FANCF):c.*632G>A rs444923
NM_022725.3(FANCF):c.*655_*659delATTAA rs886048154
NM_022725.3(FANCF):c.*695dupT rs796646840
NM_022725.3(FANCF):c.*708C>T rs61889392
NM_022725.3(FANCF):c.*709G>T rs140060318
NM_022725.3(FANCF):c.*7C>G rs770964562
NM_022725.3(FANCF):c.*819C>T rs450946
NM_022725.3(FANCF):c.-10C>T rs3740615
NM_022725.3(FANCF):c.-21A>G rs751857151
NM_022725.3(FANCF):c.-31T>C rs202069513
NM_022725.3(FANCF):c.1006G>A (p.Asp336Asn) rs886048157
NM_022725.3(FANCF):c.101C>T (p.Ala34Val) rs780228540
NM_022725.3(FANCF):c.1087C>T (p.Gln363Ter) rs201285915
NM_022725.3(FANCF):c.199A>C (p.Arg67=) rs146647469
NM_022725.3(FANCF):c.210C>T (p.Gly70=) rs769740744
NM_022725.3(FANCF):c.241G>T (p.Ala81Ser) rs145057187
NM_022725.3(FANCF):c.261_263del (p.His88del) rs886048158
NM_022725.3(FANCF):c.2T>C (p.Met1Thr) rs745495865
NM_022725.3(FANCF):c.350C>T (p.Pro117Leu) rs374572943
NM_022725.3(FANCF):c.373G>A (p.Asp125Asn) rs61752920
NM_022725.3(FANCF):c.385C>G (p.Leu129Val) rs61753271
NM_022725.3(FANCF):c.387C>T (p.Leu129=) rs45556032
NM_022725.3(FANCF):c.436C>G (p.Leu146Val) rs779428484
NM_022725.3(FANCF):c.465A>T (p.Pro155=) rs201215734
NM_022725.3(FANCF):c.480_481CT[2] (p.Leu162fs) rs587778340
NM_022725.3(FANCF):c.547G>C (p.Glu183Gln) rs774728053
NM_022725.3(FANCF):c.557C>T (p.Ala186Val) rs113910234
NM_022725.3(FANCF):c.633G>T (p.Gln211His) rs146975768
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.860A>G (p.Tyr287Cys) rs750623273
NM_022725.3(FANCF):c.96C>T (p.Arg32=) rs151253274
NM_024675.3(PALB2):c.-149G>A rs886051832
NM_024675.3(PALB2):c.-158G>C rs138200248
NM_024675.3(PALB2):c.-47G>A rs8053188
NM_024675.3(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382
NM_024675.3(PALB2):c.113C>G (p.Ala38Gly) rs371875379
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.1379A>G (p.Gln460Arg) rs749494645
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.1676A>G (p.Gln559Arg) rs152451
NM_024675.3(PALB2):c.1955G>A (p.Ser652Asn) rs587781818
NM_024675.3(PALB2):c.2014G>C (p.Glu672Gln) rs45532440
NM_024675.3(PALB2):c.2100A>T (p.Ser700=) rs757145884
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.2379C>T (p.Gly793=) rs377626805
NM_024675.3(PALB2):c.2507_2509del (p.Val836del) rs587782697
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.2896A>G (p.Ile966Val) rs786204248
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.629C>T (p.Pro210Leu) rs57605939
NM_024675.3(PALB2):c.733G>C (p.Ala245Pro) rs886051831
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.3104del (p.Phe1035fs) rs1567599198
NM_025099.6(CTC1):c.3136del (p.Cys1046fs) rs1223080335
NM_025215.5(PUS1):c.-453C>T rs551126678
NM_025215.6(PUS1):c.*119C>T rs117705819
NM_025215.6(PUS1):c.*120G>A rs569395844
NM_025215.6(PUS1):c.*122C>T rs747836180
NM_025215.6(PUS1):c.*152A>T rs188546423
NM_025215.6(PUS1):c.*16C>T rs116003934
NM_025215.6(PUS1):c.-182C>T rs61942438
NM_025215.6(PUS1):c.-244G>C rs886049091
NM_025215.6(PUS1):c.-246G>A rs886049090
NM_025215.6(PUS1):c.-266G>C rs886049089
NM_025215.6(PUS1):c.-287G>C rs886049088
NM_025215.6(PUS1):c.1020C>T (p.Phe340=) rs202059921
NM_025215.6(PUS1):c.1135G>A (p.Gly379Ser) rs886049093
NM_025215.6(PUS1):c.1197C>T (p.Phe399=) rs35461276
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992
NM_025215.6(PUS1):c.216T>C (p.Gly72=) rs766451588
NM_025215.6(PUS1):c.364C>A (p.Arg122=) rs142954643
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496
NM_025215.6(PUS1):c.423C>A (p.Arg141=) rs371752870
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) rs776342428
NM_025215.6(PUS1):c.644G>A (p.Arg215Gln) rs745345996
NM_025215.6(PUS1):c.683C>T (p.Thr228Met) rs755448329
NM_025215.6(PUS1):c.725C>T (p.Thr242Met) rs886049092
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893
NM_032043.2(BRIP1):c.*1048_*1050delTAT rs564290244
NM_032043.2(BRIP1):c.*1257_*1258delAG rs886053209
NM_032043.2(BRIP1):c.*1263A>G rs73991940
NM_032043.2(BRIP1):c.*128A>G rs150444311
NM_032043.2(BRIP1):c.*1374T>C rs59115933
NM_032043.2(BRIP1):c.*1381G>T rs886053208
NM_032043.2(BRIP1):c.*1393G>T rs754698039
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.*1868G>T rs184666432
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.*2337A>T rs373664066
NM_032043.2(BRIP1):c.*2522A>G rs886053207
NM_032043.2(BRIP1):c.*2538G>A rs150080122
NM_032043.2(BRIP1):c.*2667C>T rs373156872
NM_032043.2(BRIP1):c.*2668G>A rs886053206
NM_032043.2(BRIP1):c.*2691C>G rs886053205
NM_032043.2(BRIP1):c.*2692A>G rs886053204
NM_032043.2(BRIP1):c.*2715C>T rs886053203
NM_032043.2(BRIP1):c.*280G>C rs189935192
NM_032043.2(BRIP1):c.*2811_*2815dupAAAAA rs768910110
NM_032043.2(BRIP1):c.*2812_*2815dupAAAA rs768910110
NM_032043.2(BRIP1):c.*2815_*2816insAAAGAAA rs1555571892
NM_032043.2(BRIP1):c.*2815_*2816insAAGAAA rs1555571892
NM_032043.2(BRIP1):c.*2815_*2816insAGAAA rs1555571892
NM_032043.2(BRIP1):c.*2817_*2818insGAAAGA rs886053202
NM_032043.2(BRIP1):c.*2819_*2820insAAAA rs551338531
NM_032043.2(BRIP1):c.*2819_*2820insAAAAAA rs551338531
NM_032043.2(BRIP1):c.*2819_*2820insAAAAAAA rs551338531
NM_032043.2(BRIP1):c.*283delA rs531656835
NM_032043.2(BRIP1):c.*288A>G rs886053213
NM_032043.2(BRIP1):c.*2908C>T rs549941795
NM_032043.2(BRIP1):c.*2926T>A rs886053201
NM_032043.2(BRIP1):c.*3114delT rs35235448
NM_032043.2(BRIP1):c.*3145A>G rs886053200
NM_032043.2(BRIP1):c.*3188G>A rs369850537
NM_032043.2(BRIP1):c.*3307T>C rs886053199
NM_032043.2(BRIP1):c.*339G>C rs886053212
NM_032043.2(BRIP1):c.*3450T>C rs74859843
NM_032043.2(BRIP1):c.*3479A>G rs573351550
NM_032043.2(BRIP1):c.*3488A>T rs11079454
NM_032043.2(BRIP1):c.*3489T>C rs140891191
NM_032043.2(BRIP1):c.*3514T>G rs10744996
NM_032043.2(BRIP1):c.*3617T>C rs886053198
NM_032043.2(BRIP1):c.*380C>T rs556729826
NM_032043.2(BRIP1):c.*3821A>G rs886053197
NM_032043.2(BRIP1):c.*3918C>T rs886053196
NM_032043.2(BRIP1):c.*3924T>G rs886053195
NM_032043.2(BRIP1):c.*396_*397delCT rs546666211
NM_032043.2(BRIP1):c.*4000T>C rs8077553
NM_032043.2(BRIP1):c.*421C>T rs886053211
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.*900C>A rs886053210
NM_032043.2(BRIP1):c.-197C>A rs180948389
NM_032043.2(BRIP1):c.-205G>A rs2048718
NM_032043.2(BRIP1):c.-229C>G rs886053217
NM_032043.2(BRIP1):c.-237dupT rs112243287
NM_032043.2(BRIP1):c.-31+12G>A rs4988340
NM_032043.2(BRIP1):c.1474-3T>C rs552752779
NM_032043.2(BRIP1):c.1629-11T>C rs375710640
NM_032043.2(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731
NM_032043.2(BRIP1):c.1774T>G (p.Trp592Gly) rs587780231
NM_032043.2(BRIP1):c.1935+11_1935+13delGTT rs730881641
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) rs111536363
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2637A>G (p.Glu879=) rs4986765
NM_032043.2(BRIP1):c.2741T>C (p.Leu914Ser) rs886053215
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.2801T>C (p.Phe934Ser) rs778916092
NM_032043.2(BRIP1):c.2811T>C (p.Asp937=) rs374335608
NM_032043.2(BRIP1):c.2829C>A (p.Val943=) rs767164240
NM_032043.2(BRIP1):c.3020C>A (p.Ser1007Tyr) rs886053214
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.3251C>G (p.Thr1084Ser) rs876660768
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.36G>T (p.Gly12=) rs45566938
NM_032043.2(BRIP1):c.54T>C (p.Pro18=) rs886053216
NM_032043.2(BRIP1):c.612C>G (p.Ser204=) rs587780832
NM_032043.2(BRIP1):c.918+15T>A rs117820198
NM_032043.2(BRIP1):c.93+15G>A rs113052745
NM_032383.5(HPS3):c.*128A>G rs73019023
NM_032383.5(HPS3):c.*172G>A rs34511277
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_032444.4(SLX4):c.*1004A>G rs75773027
NM_032444.4(SLX4):c.*1022A>G rs78346491
NM_032444.4(SLX4):c.*1095G>A rs116498263
NM_032444.4(SLX4):c.*113C>T rs76661336
NM_032444.4(SLX4):c.*1150G>C rs886051972
NM_032444.4(SLX4):c.*128A>G rs528843807
NM_032444.4(SLX4):c.*168T>G rs886051975
NM_032444.4(SLX4):c.*298_*301del rs566716185
NM_032444.4(SLX4):c.*311G>A rs749668095
NM_032444.4(SLX4):c.*374C>T rs369843531
NM_032444.4(SLX4):c.*469A>T rs868278470
NM_032444.4(SLX4):c.*555C>T rs146163310
NM_032444.4(SLX4):c.*652A>G rs546917026
NM_032444.4(SLX4):c.*655G>A rs116003727
NM_032444.4(SLX4):c.*658T>C rs541410329
NM_032444.4(SLX4):c.*721T>C rs75146816
NM_032444.4(SLX4):c.*807G>A rs115690937
NM_032444.4(SLX4):c.*811G>C rs371879504
NM_032444.4(SLX4):c.*871A>G rs886051974
NM_032444.4(SLX4):c.*8A>G rs3751839
NM_032444.4(SLX4):c.*957C>T rs886051973
NM_032444.4(SLX4):c.*984C>T rs57699393
NM_032444.4(SLX4):c.*98A>G rs551538592
NM_032444.4(SLX4):c.-104A>G rs73505426
NM_032444.4(SLX4):c.-112C>A rs779687936
NM_032444.4(SLX4):c.-143_-140del rs779611690
NM_032444.4(SLX4):c.-19G>A rs113845637
NM_032444.4(SLX4):c.-210G>A rs747849749
NM_032444.4(SLX4):c.-211dup rs149138178
NM_032444.4(SLX4):c.-21G>C rs200717103
NM_032444.4(SLX4):c.-271G>A rs149773885
NM_032444.4(SLX4):c.-295A>G rs59311338
NM_032444.4(SLX4):c.-305C>T rs886051983
NM_032444.4(SLX4):c.-359C>G rs57910835
NM_032444.4(SLX4):c.-381A>G rs375326827
NM_032444.4(SLX4):c.-395C>T rs886051984
NM_032444.4(SLX4):c.-416G>A rs528320603
NM_032444.4(SLX4):c.-46G>A rs113023461
NM_032444.4(SLX4):c.-580T>C rs886051985
NM_032444.4(SLX4):c.-602-6C>G rs886051986
NM_032444.4(SLX4):c.-603+8G>C rs886051987
NM_032444.4(SLX4):c.-616C>T rs886051988
NM_032444.4(SLX4):c.1110T>C (p.Ala370=) rs886051981
NM_032444.4(SLX4):c.1115G>A (p.Arg372Gln) rs372956623
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.1324A>C (p.Arg442=) rs886051980
NM_032444.4(SLX4):c.1325G>C (p.Arg442Thr) rs886051979
NM_032444.4(SLX4):c.1366+11T>C rs76350200
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927
NM_032444.4(SLX4):c.13G>A (p.Val5Met) rs750091754
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser) rs776189589
NM_032444.4(SLX4):c.1520G>A (p.Arg507Lys) rs762550449
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val) rs199683722
NM_032444.4(SLX4):c.1583G>A (p.Ser528Asn) rs752899329
NM_032444.4(SLX4):c.1707G>A (p.Pro569=) rs141687678
NM_032444.4(SLX4):c.1740C>T (p.Ser580=) rs200354014
NM_032444.4(SLX4):c.1755C>T (p.Pro585=) rs114016359
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556
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.1941C>T (p.Pro647=) rs540288743
NM_032444.4(SLX4):c.1976C>T (p.Ser659Leu) rs372150541
NM_032444.4(SLX4):c.2006G>A (p.Arg669His) rs200807331
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244
NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser) rs571330689
NM_032444.4(SLX4):c.2125G>A (p.Val709Met) rs151026877
NM_032444.4(SLX4):c.2235C>T (p.Thr745=) rs75184268
NM_032444.4(SLX4):c.231A>G (p.Gln77=) rs143279888
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter) rs200715208
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln) rs143558209
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472
NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser) rs79448721
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu) rs117707719
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006
NM_032444.4(SLX4):c.2844G>A (p.Ala948=) rs376877866
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.2882C>T (p.Pro961Leu) rs886051978
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784
NM_032444.4(SLX4):c.2991G>A (p.Pro997=) rs770736311
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro) rs200842643
NM_032444.4(SLX4):c.3087A>T (p.Pro1029=) rs746254787
NM_032444.4(SLX4):c.3118C>T (p.Pro1040Ser) rs201359490
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181
NM_032444.4(SLX4):c.360T>C (p.Thr120=) rs886051982
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813
NM_032444.4(SLX4):c.3841G>A (p.Gly1281Arg) rs754996241
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val) rs149011965
NM_032444.4(SLX4):c.3868C>A (p.His1290Asn) rs112596894
NM_032444.4(SLX4):c.3912C>T (p.Val1304=) rs140254478
NM_032444.4(SLX4):c.3913G>A (p.Ala1305Thr) rs763524714
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys) rs142040192
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=) rs116781836
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn) rs142205392
NM_032444.4(SLX4):c.4068G>A (p.Pro1356=) rs115491049
NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln) rs79174372
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.4494G>A (p.Leu1498=) rs146532299
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812
NM_032444.4(SLX4):c.4546G>A (p.Gly1516Arg) rs775915651
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.4650_4652GAA[2] (p.Lys1552del) rs760517738
NM_032444.4(SLX4):c.4750C>T (p.Arg1584Cys) rs560866356
NM_032444.4(SLX4):c.4889C>A (p.Ala1630Asp) rs886051977
NM_032444.4(SLX4):c.489T>G (p.Gly163=) rs201211891
NM_032444.4(SLX4):c.4918G>C (p.Gly1640Arg) rs368102037
NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter) rs1291935778
NM_032444.4(SLX4):c.5027C>T (p.Thr1676Ile) rs377544881
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345
NM_032444.4(SLX4):c.5042C>T (p.Ser1681Leu) rs530123827
NM_032444.4(SLX4):c.5060C>G (p.Pro1687Arg) rs765960272
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr) rs75182789
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824
NM_032444.4(SLX4):c.5418C>G (p.Ile1806Met) rs886051976
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850
NM_032444.4(SLX4):c.561G>T (p.Gln187His) rs778738306
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys) rs148547201
NM_032444.4(SLX4):c.752C>T (p.Ala251Val) rs201117707
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528
NM_032444.4(SLX4):c.890A>G (p.Gln297Arg) rs778643553
NM_032609.2(COX4I2):c.-70C>T rs577065484
NM_032609.2(COX4I2):c.83-8_83-7delGT rs528430338
NM_032609.3(COX4I2):c.1-6C>T rs201853480
NM_032609.3(COX4I2):c.167A>C (p.Glu56Ala) rs751781798
NM_032609.3(COX4I2):c.231C>T (p.His77=) rs201106165
NM_032609.3(COX4I2):c.345C>T (p.Phe115=) rs765094514
NM_032609.3(COX4I2):c.396G>A (p.Pro132=) rs150196183
NM_032609.3(COX4I2):c.430C>G (p.Leu144Val) rs751561918
NM_032609.3(COX4I2):c.463G>C (p.Val155Leu) rs886056575
NM_032609.3(COX4I2):c.482G>A (p.Arg161His) rs11907253
NM_032985.6(SEC23B):c.1489C>T (p.Arg497Cys) rs727504145
NM_033022.3(RPS24):c.*21C>T rs114512325
NM_033022.3(RPS24):c.*99T>C rs146068394
NM_033022.3(RPS24):c.-109A>G rs3740254
NM_033022.3(RPS24):c.-142A>G rs886047294
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.235C>T (p.Leu79=) rs192994060
NM_033022.3(RPS24):c.280-11_280-10delTT rs756756010
NM_033022.3(RPS24):c.333G>A (p.Lys111=) rs144291219
NM_033022.3(RPS24)