ClinVar Miner

List of variants reported as uncertain significance for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5826
Download table as spreadsheet
HGVS dbSNP
NC_000003.11:g.(?_10127486)_(10140644_?)dup
NC_000005.9:g.(?_1253833)_(1253956_?)dup
NC_000005.9:g.(?_1253833)_(1255536_?)dup
NC_000005.9:g.(?_1253833)_(1258784_?)dup
NC_000005.9:g.(?_1253833)_(1272405_?)dup
NC_000005.9:g.(?_1253833)_(1295114_?)dup
NC_000005.9:g.(?_1253833)_(1295161_?)dup
NC_000005.9:g.(?_1253837)_(1295110_?)dup
NC_000005.9:g.(?_1293418)_(1295161_?)dup
NC_000005.9:g.(?_177576708)_(177580824_?)del
NC_000009.11:g.(?_97863983)_(98270649_?)dup
NC_000009.11:g.(?_97869338)_(97869561_?)del
NC_000010.10:g.(?_79795104)_(79799970_?)dup
NC_000011.9:g.(?_22644079)_(22647387_?)dup
NC_000014.8:g.(?_45605225)_(45609922_?)dup
NC_000014.8:g.(?_45623113)_(45669221_?)del
NC_000014.8:g.(?_45628293)_(45628489_?)dup
NC_000014.8:g.(?_45636143)_(45636376_?)del
NC_000014.8:g.(?_45667837)_(45669221_?)del
NC_000015.9:g.(?_89833434)_(89834955_?)del
NC_000016.9:g.(?_30066083)_(30081533_?)dup
NC_000016.9:g.(?_3632337)_(3658971_?)dup
NC_000016.9:g.(?_89880918)_(89883033_?)dup
NC_000016.9:g.(?_89880928)_(89883065_?)dup
NC_000017.10:g.(?_56769995)_(56801471_?)dup
NC_000017.10:g.(?_56769995)_(56811593_?)dup
NC_000017.10:g.(?_56769999)_(56774226_?)dup
NC_000017.10:g.(?_56769999)_(56801467_?)dup
NC_000017.10:g.(?_56769999)_(56811589_?)dup
NC_000017.10:g.(?_56772286)_(56774226_?)dup
NC_000017.10:g.(?_56787214)_(56787357_?)dup
NC_000017.10:g.(?_59760647)_(59761511_?)dup
NC_000017.10:g.(?_59760647)_(59938910_?)dup
NC_000017.10:g.(?_59760651)_(59938906_?)dup
NC_000017.10:g.(?_59763187)_(59763536_?)del
NC_000017.10:g.(?_59820364)_(59886128_?)dup
NC_000017.10:g.(?_59820374)_(59886118_?)dup
NC_000017.10:g.(?_59853752)_(59861795_?)del
NC_000017.10:g.(?_59853752)_(59938910_?)dup
NC_000017.10:g.(?_59853756)_(59938906_?)dup
NC_000017.10:g.(?_59857612)_(59861795_?)del
NC_000017.10:g.(?_59857616)_(59861791_?)del
NC_000017.10:g.(?_59861625)_(59938906_?)dup
NC_000017.10:g.(?_59870948)_(59876670_?)del
NC_000017.10:g.(?_59870948)_(59886128_?)dup
NC_000017.10:g.(?_59870952)_(59876666_?)del
NC_000017.10:g.(?_59870952)_(59886124_?)dup
NC_000017.10:g.(?_59885822)_(59938906_?)dup
NC_000017.10:g.(?_59924456)_(59938906_?)dup
NC_000017.10:g.(?_8280834)_(8283254_?)dup
NC_000018.9:g.(?_2920271)_(2960858_?)dup
NC_000019.9:g.(?_42363988)_(42364359_?)del
NC_000020.10:g.(?_62290736)_(62327158_?)dup
NC_000023.10:g.(?_76763809)_(76972740_?)dup
NM_000018.4(ACADVL):c.325G>A (p.Val109Met) rs754207297
NM_000059.3(BRCA2):c.*292A>C rs886050112
NM_000059.3(BRCA2):c.*345A>G rs886050113
NM_000059.3(BRCA2):c.*360dupC rs886050114
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.*545T>C rs536333595
NM_000059.3(BRCA2):c.*675C>A rs886050117
NM_000059.3(BRCA2):c.*696G>A rs886050118
NM_000059.3(BRCA2):c.-210A>G rs886050111
NM_000059.3(BRCA2):c.1282C>A (p.Leu428Ile) rs547590567
NM_000059.3(BRCA2):c.1433C>A (p.Thr478Lys) rs431825282
NM_000059.3(BRCA2):c.2122T>A (p.Ser708Thr) rs80358488
NM_000059.3(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296
NM_000059.3(BRCA2):c.2405A>G (p.Asn802Ser) rs876661089
NM_000059.3(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.2908G>A (p.Asp970Asn) rs397507295
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.3415A>C (p.Lys1139Gln) rs747903103
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.3808G>A (p.Val1270Ile) rs876658938
NM_000059.3(BRCA2):c.3835A>G (p.Asn1279Asp) rs80358626
NM_000059.3(BRCA2):c.4478A>G (p.Glu1493Gly) rs80358679
NM_000059.3(BRCA2):c.4535G>A (p.Arg1512His) rs80358685
NM_000059.3(BRCA2):c.4825A>G (p.Thr1609Ala) rs876659201
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.561G>A (p.Glu187=) rs754678843
NM_000059.3(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.3(BRCA2):c.5962G>A (p.Val1988Ile) rs28897739
NM_000059.3(BRCA2):c.5986G>T (p.Ala1996Ser) rs80358833
NM_000059.3(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760
NM_000059.3(BRCA2):c.6148G>A (p.Val2050Ile) rs80358854
NM_000059.3(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.3(BRCA2):c.6626T>C (p.Ile2209Thr) rs431825344
NM_000059.3(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503
NM_000059.3(BRCA2):c.6818G>A (p.Arg2273Lys) rs587782174
NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912
NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930
NM_000059.3(BRCA2):c.7435+10G>A rs81002793
NM_000059.3(BRCA2):c.7447A>G (p.Ser2483Gly) rs80358966
NM_000059.3(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.3(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354
NM_000059.3(BRCA2):c.7693G>A (p.Glu2565Lys) rs764761862
NM_000059.3(BRCA2):c.7781A>G (p.Lys2594Arg) rs876660874
NM_000059.3(BRCA2):c.7954G>A (p.Val2652Met) rs1466452770
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.7992T>G (p.Ile2664Met) rs80359800
NM_000059.3(BRCA2):c.8007A>T (p.Arg2669Ser) rs143999963
NM_000059.3(BRCA2):c.8530G>A (p.Glu2844Lys) rs755783122
NM_000059.3(BRCA2):c.8817G>C (p.Lys2939Asn) rs397507414
NM_000059.3(BRCA2):c.8825C>T (p.Ala2942Val) rs373227180
NM_000059.3(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155
NM_000059.3(BRCA2):c.909T>G (p.Ser303=) rs757430441
NM_000059.3(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.3(BRCA2):c.9530A>G (p.Glu3177Gly) rs876658365
NM_000059.3(BRCA2):c.9538C>T (p.Leu3180Phe) rs200598289
NM_000059.3(BRCA2):c.963A>G (p.Gln321=) rs276174927
NM_000064.4(C3):c.1164C>T (p.Pro388=) rs769368306
NM_000064.4(C3):c.1269+14C>A rs886054655
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.1921G>A (p.Asp641Asn) rs1348311492
NM_000064.4(C3):c.2403G>A (p.Thr801=) rs886054654
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.2857G>A (p.Gly953Ser) rs779124363
NM_000064.4(C3):c.2907C>T (p.Asp969=) rs144672500
NM_000064.4(C3):c.2951-5_2951-3del
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro) rs750654763
NM_000064.4(C3):c.3687C>T (p.Asn1229=) rs201108539
NM_000064.4(C3):c.4095C>G (p.Val1365=) rs527830114
NM_000064.4(C3):c.4120+8G>T rs886054652
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.4535G>A (p.Arg1512His) rs142868256
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser) rs746985605
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.4941G>A (p.Gln1647=) rs780251209
NM_000064.4(C3):c.681C>T (p.Tyr227=) rs756694755
NM_000064.4(C3):c.769G>A (p.Ala257Thr) rs200918899
NM_000064.4(C3):c.819C>T (p.Phe273=) rs886054656
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.*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.*912C>G rs149920453
NM_000096.4(CP):c.1037-3C>A
NM_000096.4(CP):c.1100G>T (p.Arg367Leu)
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.1217C>A (p.Ala406Glu) rs147034302
NM_000096.4(CP):c.125A>G (p.Lys42Arg) rs886058090
NM_000096.4(CP):c.1265A>G (p.Lys422Arg)
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.1313A>G (p.Glu438Gly) rs1553761979
NM_000096.4(CP):c.1348+9T>C rs35272481
NM_000096.4(CP):c.1380C>T (p.Thr460=) rs149790356
NM_000096.4(CP):c.1414C>A (p.Pro472Thr)
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.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.1900C>A (p.Leu634Ile)
NM_000096.4(CP):c.1939T>A (p.Phe647Ile)
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949
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.2310G>A (p.Lys770=) rs553883583
NM_000096.4(CP):c.2446G>A (p.Val816Ile)
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.2662-14T>C rs189155564
NM_000096.4(CP):c.2681T>C (p.Ile894Thr)
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000096.4(CP):c.2697T>C (p.Val899=) rs17847022
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) rs187293972
NM_000096.4(CP):c.347C>A (p.Pro116His) rs73866999
NM_000096.4(CP):c.389A>G (p.His130Arg)
NM_000096.4(CP):c.407C>T (p.Pro136Leu)
NM_000096.4(CP):c.508G>A (p.Gly170Arg) rs886058089
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693
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.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_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487
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_000119.3(EPB42):c.286+6T>A rs515726214
NM_000135.2(FANCA):c.2602-9_2602-8delCT rs577636020
NM_000135.3(FANCA):c.2015-8del rs1567619964
NM_000135.4(FANCA):c.*1012A>G rs886052477
NM_000135.4(FANCA):c.*146C>T rs556325258
NM_000135.4(FANCA):c.*166G>A rs886052479
NM_000135.4(FANCA):c.*317G>A rs201817705
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.*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.-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.1010C>G (p.Ser337Cys)
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys) rs750257902
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413
NM_000135.4(FANCA):c.106_108del (p.Asn36del)
NM_000135.4(FANCA):c.1072C>G (p.Leu358Val) rs748337423
NM_000135.4(FANCA):c.1100G>A (p.Ser367Asn) rs764286584
NM_000135.4(FANCA):c.1102G>A (p.Ala368Thr)
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe)
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr)
NM_000135.4(FANCA):c.1273G>C (p.Asp425His) rs1555561398
NM_000135.4(FANCA):c.1276A>G (p.Ser426Gly) rs985078327
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile)
NM_000135.4(FANCA):c.1286C>T (p.Thr429Ile)
NM_000135.4(FANCA):c.1289C>T (p.Ala430Val)
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met) rs1307948857
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys) rs367733447
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val)
NM_000135.4(FANCA):c.133G>A (p.Glu45Lys) rs142990858
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000135.4(FANCA):c.1360-16_1363dup rs1555556321
NM_000135.4(FANCA):c.139G>A (p.Ala47Thr)
NM_000135.4(FANCA):c.1403A>G (p.Lys468Arg)
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met) rs761957732
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg)
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp)
NM_000135.4(FANCA):c.145C>G (p.Arg49Gly)
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys)
NM_000135.4(FANCA):c.1471-12A>G rs9282684
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1475A>T (p.His492Leu) rs925457555
NM_000135.4(FANCA):c.1480C>T (p.Leu494Phe) rs1060501886
NM_000135.4(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer) rs878853661
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) rs200291237
NM_000135.4(FANCA):c.1518C>T (p.Leu506=) rs781524409
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn)
NM_000135.4(FANCA):c.1558G>C (p.Asp520His)
NM_000135.4(FANCA):c.1564A>G (p.Lys522Glu) rs1555554630
NM_000135.4(FANCA):c.1566+2C>T rs1316950815
NM_000135.4(FANCA):c.1567-11C>A rs34353618
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val) rs587778310
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) rs201323171
NM_000135.4(FANCA):c.1676A>G (p.Glu559Gly) rs753229112
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met) rs148154682
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.4(FANCA):c.1691T>C (p.Ile564Thr)
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup) rs1555581601
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293
NM_000135.4(FANCA):c.1750C>G (p.Leu584Val)
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.1777-15C>G rs371919426
NM_000135.4(FANCA):c.178C>T (p.Leu60Phe) rs1060501885
NM_000135.4(FANCA):c.1796C>G (p.Ser599Cys)
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser)
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg)
NM_000135.4(FANCA):c.1843C>T (p.Pro615Ser)
NM_000135.4(FANCA):c.186T>A (p.Leu62=) rs1555580352
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly) rs146491000
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr)
NM_000135.4(FANCA):c.189+12C>G rs753101174
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp) rs768520283
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1901-9T>G rs886052486
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe) rs776682683
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala) rs1555549412
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) rs367880372
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile)
NM_000135.4(FANCA):c.2090T>A (p.Val697Asp)
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp) rs201672093
NM_000135.4(FANCA):c.209A>G (p.Lys70Arg) rs55692229
NM_000135.4(FANCA):c.2110C>G (p.Leu704Val) rs1555548507
NM_000135.4(FANCA):c.2134G>A (p.Glu712Lys)
NM_000135.4(FANCA):c.2149A>G (p.Met717Val) rs766173155
NM_000135.4(FANCA):c.2151+4G>A
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly) rs886052485
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val) rs199938598
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp) rs763187355
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.4(FANCA):c.2239G>A (p.Ala747Thr) rs931143821
NM_000135.4(FANCA):c.2248G>A (p.Val750Met)
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe)
NM_000135.4(FANCA):c.2316+9C>T rs776301232
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser) rs757468756
NM_000135.4(FANCA):c.2413C>T (p.Pro805Ser)
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) rs201152989
NM_000135.4(FANCA):c.245G>C (p.Ser82Thr) rs1459045387
NM_000135.4(FANCA):c.2492_2494TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.2505A>G (p.Lys835=) rs1555546563
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr)
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly) rs587778313
NM_000135.4(FANCA):c.2528A>G (p.Tyr843Cys) rs1567616244
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr) rs886052484
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe) rs980582362
NM_000135.4(FANCA):c.2593A>G (p.Ile865Val) rs878853662
NM_000135.4(FANCA):c.2594T>G (p.Ile865Ser) rs1331781220
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn) rs746889340
NM_000135.4(FANCA):c.2602-14A>C rs886052483
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.4(FANCA):c.2607G>C (p.Gln869His) rs1555545583
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130
NM_000135.4(FANCA):c.265C>T (p.His89Tyr) rs746125523
NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn)
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys) rs587778316
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr)
NM_000135.4(FANCA):c.2778+10C>T rs371786839
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2785T>C (p.Tyr929His) rs1567612427
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.4(FANCA):c.2800C>A (p.His934Asn)
NM_000135.4(FANCA):c.2815A>G (p.Ile939Val)
NM_000135.4(FANCA):c.2826A>C (p.Glu942Asp) rs1217883878
NM_000135.4(FANCA):c.284-9G>C rs367672895
NM_000135.4(FANCA):c.2851C>A (p.Arg951=)
NM_000135.4(FANCA):c.2856G>C (p.Gln952His) rs200093209
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr)
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu) rs779162871
NM_000135.4(FANCA):c.2904G>A (p.Ser968=)
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val) rs773070418
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg) rs191943709
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala) rs587778317
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro) rs752735858
NM_000135.4(FANCA):c.2959G>T (p.Ala987Ser) rs752735858
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn) rs1060501883
NM_000135.4(FANCA):c.2975A>T (p.His992Leu) rs184007986
NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg) rs1555540072
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln) rs750421982
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)
NM_000135.4(FANCA):c.3062T>G (p.Leu1021Trp)
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.4(FANCA):c.3115G>A (p.Gly1039Ser)
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3149A>C (p.Glu1050Ala)
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033
NM_000135.4(FANCA):c.3158G>A (p.Arg1053His) rs371351450
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala) rs764893807
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly) rs369878171
NM_000135.4(FANCA):c.3193G>C (p.Val1065Leu)
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val) rs1419279017
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys)
NM_000135.4(FANCA):c.3240-3C>T rs1315428324
NM_000135.4(FANCA):c.3251G>A (p.Arg1084His)
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His)
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His) rs779268656
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3349-3C>T rs373861415
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp) rs371208490
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del) rs1314042335
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro)
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His) rs768851109
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.4(FANCA):c.3428T>G (p.Leu1143Arg) rs1188842855
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg) rs769824282
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000135.4(FANCA):c.3512T>C (p.Leu1171Pro)
NM_000135.4(FANCA):c.3514-13G>A rs200270574
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=) rs886052482
NM_000135.4(FANCA):c.353C>T (p.Ala118Val)
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)
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.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3602_3604AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3611G>A (p.Arg1204Gln) rs770622823
NM_000135.4(FANCA):c.361G>A (p.Val121Met)
NM_000135.4(FANCA):c.3623G>A (p.Ser1208Asn) rs1351484293
NM_000135.4(FANCA):c.3623G>T (p.Ser1208Ile) rs1351484293
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)
NM_000135.4(FANCA):c.3652C>T (p.Pro1218Ser) rs1555535564
NM_000135.4(FANCA):c.3658C>T (p.Pro1220Ser) rs773150877
NM_000135.4(FANCA):c.3686C>G (p.Ala1229Gly) rs1465548673
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val) rs545742908
NM_000135.4(FANCA):c.3700A>G (p.Ile1234Val)
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr) rs886052481
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu) rs769919783
NM_000135.4(FANCA):c.3703_3705CAA[1] (p.Gln1236del) rs1555535513
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln) rs150719428
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del) rs1441710252
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658
NM_000135.4(FANCA):c.375C>T (p.Cys125=) rs199793463
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val) rs750773229
NM_000135.4(FANCA):c.3766-14G>A rs34476949
NM_000135.4(FANCA):c.3778_3783del (p.Leu1260_Phe1261del) rs1157717956
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) rs139160837
NM_000135.4(FANCA):c.3784T>C (p.Phe1262Leu) rs1555534579
NM_000135.4(FANCA):c.3795G>C (p.Leu1265Phe) rs1010989878
NM_000135.4(FANCA):c.3798G>A (p.Met1266Ile) rs1443680543
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val)
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=) rs886052480
NM_000135.4(FANCA):c.3829-9G>A rs776077648
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro) rs142919010
NM_000135.4(FANCA):c.3858C>A (p.His1286Gln) rs761705192
NM_000135.4(FANCA):c.386C>T (p.Ala129Val) rs577625130
NM_000135.4(FANCA):c.387G>A (p.Ala129=)
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr) rs765162125
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg) rs878853665
NM_000135.4(FANCA):c.3908T>C (p.Leu1303Pro)
NM_000135.4(FANCA):c.3935-6T>C rs368376237
NM_000135.4(FANCA):c.3935-9G>A rs9282680
NM_000135.4(FANCA):c.3937C>T (p.Leu1313Phe) rs551306400
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp) rs200215131
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966
NM_000135.4(FANCA):c.3953_3955TCC[2] (p.Leu1320del) rs927201841
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys)
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848
NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del) rs1555533593
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.4015C>T (p.Leu1339Phe) rs149775657
NM_000135.4(FANCA):c.4019C>T (p.Ser1340Phe)
NM_000135.4(FANCA):c.4039G>A (p.Ala1347Thr)
NM_000135.4(FANCA):c.4051G>C (p.Glu1351Gln)
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.4(FANCA):c.4080G>A (p.Met1360Ile) rs1555533300
NM_000135.4(FANCA):c.4084T>G (p.Leu1362Val) rs775351812
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=) rs1060501882
NM_000135.4(FANCA):c.4167+2C>T rs374765708
NM_000135.4(FANCA):c.4167G>C (p.Gln1389His)
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met) rs145148206
NM_000135.4(FANCA):c.4260+6G>C
NM_000135.4(FANCA):c.4273C>G (p.Arg1425Gly) rs587778321
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His) rs147406377
NM_000135.4(FANCA):c.4291G>C (p.Glu1431Gln) rs1567591125
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr) rs587778322
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter) rs767234774
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs) rs1030509993
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu) rs774448881
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg) rs943773590
NM_000135.4(FANCA):c.475A>G (p.Ser159Gly)
NM_000135.4(FANCA):c.480G>A (p.Met160Ile) rs200603300
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe) rs35566151
NM_000135.4(FANCA):c.542_543delinsTC (p.Ala181Val)
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) rs587778323
NM_000135.4(FANCA):c.559G>A (p.Val187Ile) rs761538996
NM_000135.4(FANCA):c.571G>T (p.Val191Leu)
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.596+5C>T
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697
NM_000135.4(FANCA):c.627G>C (p.Trp209Cys)
NM_000135.4(FANCA):c.660G>C (p.Gln220His) rs1555571174
NM_000135.4(FANCA):c.661A>G (p.Met221Val) rs150924963
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu)
NM_000135.4(FANCA):c.679C>G (p.His227Asp) rs142580507
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn) rs148419748
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850
NM_000135.4(FANCA):c.691G>A (p.Ala231Thr) rs746814384
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487
NM_000135.4(FANCA):c.700A>G (p.Met234Val)
NM_000135.4(FANCA):c.701T>C (p.Met234Thr)
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys)
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg) rs886052489
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu) rs878853666
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.761_763GAA[1] (p.Arg255del) rs555210441
NM_000135.4(FANCA):c.769G>A (p.Val257Met) rs777311234
NM_000135.4(FANCA):c.793-3C>G rs749688050
NM_000135.4(FANCA):c.793-9T>C rs757500718
NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr) rs1246636933
NM_000135.4(FANCA):c.812A>C (p.Gln271Pro) rs762721928
NM_000135.4(FANCA):c.813G>C (p.Gln271His) rs773057753
NM_000135.4(FANCA):c.81G>A (p.Ala27=) rs150247726
NM_000135.4(FANCA):c.835G>T (p.Asp279Tyr) rs1555566625
NM_000135.4(FANCA):c.838G>A (p.Ala280Thr) rs1010833101
NM_000135.4(FANCA):c.839C>T (p.Ala280Val) rs767092317
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr) rs185984960
NM_000135.4(FANCA):c.86G>T (p.Arg29Met)
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791
NM_000135.4(FANCA):c.881T>C (p.Ile294Thr) rs1555566545
NM_000135.4(FANCA):c.887G>C (p.Arg296Thr) rs878853667
NM_000135.4(FANCA):c.897C>G (p.Phe299Leu)
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn) rs1060501877
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn)
NM_000135.4(FANCA):c.953G>T (p.Arg318Met) rs72552377
NM_000135.4(FANCA):c.95G>C (p.Arg32Thr) rs770984577
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000136.2(FANCC):c.1329+166_1329+168delGGT rs1554829374
NM_000136.2(FANCC):c.1329+5delG rs878853670
NM_000136.2(FANCC):c.457-10delT rs763416214
NM_000136.2(FANCC):c.844-10_844-8delCCT rs758617953
NM_000136.3(FANCC):c.*1045C>T rs537983135
NM_000136.3(FANCC):c.*1262T>C rs45520432
NM_000136.3(FANCC):c.*1276C>A rs1057515698
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.*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.*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.*338C>A rs920400068
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.*667C>T rs150462386
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.-2A>G rs773045474
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp) rs140348260
NM_000136.3(FANCC):c.1001G>A (p.Arg334Gln) rs377468919
NM_000136.3(FANCC):c.1006G>T (p.Ala336Ser)
NM_000136.3(FANCC):c.1009C>T (p.Leu337Phe) rs587779899
NM_000136.3(FANCC):c.1019A>G (p.Tyr340Cys) rs746828156
NM_000136.3(FANCC):c.1024C>G (p.Pro342Ala) rs863224606
NM_000136.3(FANCC):c.1030A>G (p.Thr344Ala) rs1228873579
NM_000136.3(FANCC):c.1048A>G (p.Met350Val) rs863224607
NM_000136.3(FANCC):c.1067C>A (p.Pro356His) rs1060502517
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu)
NM_000136.3(FANCC):c.1073-4G>A rs147695697
NM_000136.3(FANCC):c.1073-5C>T rs375613884
NM_000136.3(FANCC):c.1079C>G (p.Pro360Arg)
NM_000136.3(FANCC):c.1081C>T (p.Arg361Trp) rs768508859
NM_000136.3(FANCC):c.1082G>A (p.Arg361Gln) rs761336987
NM_000136.3(FANCC):c.1090T>C (p.Trp364Arg) rs771694972
NM_000136.3(FANCC):c.1093C>T (p.Leu365Phe) rs1060502514
NM_000136.3(FANCC):c.1098G>C (p.Gln366His) rs1564652354
NM_000136.3(FANCC):c.109C>G (p.His37Asp) rs864622230
NM_000136.3(FANCC):c.110A>C (p.His37Pro) rs1564794663
NM_000136.3(FANCC):c.112G>C (p.Val38Leu) rs778951584
NM_000136.3(FANCC):c.1146G>C (p.Gln382His) rs770809637
NM_000136.3(FANCC):c.1154+2dup rs1386979449
NM_000136.3(FANCC):c.1159T>C (p.Cys387Arg) rs1064793837
NM_000136.3(FANCC):c.1162G>A (p.Gly388Arg) rs371897078
NM_000136.3(FANCC):c.1170C>G (p.Pro390=) rs878853668
NM_000136.3(FANCC):c.1201G>A (p.Gly401Arg) rs730881722
NM_000136.3(FANCC):c.1207T>C (p.Trp403Arg) rs1554829543
NM_000136.3(FANCC):c.1241C>T (p.Ser414Leu)
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val) rs550462055
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys) rs140687953
NM_000136.3(FANCC):c.1256C>G (p.Pro419Arg) rs864622514
NM_000136.3(FANCC):c.1262C>G (p.Ala421Gly) rs863224608
NM_000136.3(FANCC):c.1264C>A (p.Leu422Met) rs756716463
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770
NM_000136.3(FANCC):c.1283_1285del (p.Phe428del)
NM_000136.3(FANCC):c.1291G>A (p.Gly431Ser)
NM_000136.3(FANCC):c.1297C>T (p.Arg433Cys) rs369684405
NM_000136.3(FANCC):c.1298G>A (p.Arg433His)
NM_000136.3(FANCC):c.1300G>A (p.Asp434Asn) rs864622522
NM_000136.3(FANCC):c.131T>C (p.Phe44Ser)
NM_000136.3(FANCC):c.1327A>G (p.Met443Val) rs150941781
NM_000136.3(FANCC):c.1329+134del rs1554829392
NM_000136.3(FANCC):c.1329+157C>T rs1554829380
NM_000136.3(FANCC):c.1329+169C>T rs1554829373
NM_000136.3(FANCC):c.1329+265T>G rs1554829329
NM_000136.3(FANCC):c.1330-8T>C rs864622221
NM_000136.3(FANCC):c.1330G>A (p.Val444Ile) rs1554828492
NM_000136.3(FANCC):c.1361T>C (p.Leu454Pro) rs1554828451
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724
NM_000136.3(FANCC):c.1366A>G (p.Met456Val) rs1554828443
NM_000136.3(FANCC):c.1368G>T (p.Met456Ile) rs863224609
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801
NM_000136.3(FANCC):c.1388C>T (p.Ser463Leu)
NM_000136.3(FANCC):c.143T>C (p.Met48Thr) rs1353498563
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser) rs1415434775
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser) rs1564641164
NM_000136.3(FANCC):c.1508C>T (p.Thr503Met) rs779982610
NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr) rs780179187
NM_000136.3(FANCC):c.1518G>C (p.Trp506Cys) rs1554828332
NM_000136.3(FANCC):c.1532T>C (p.Leu511Pro) rs1554828313
NM_000136.3(FANCC):c.1533+5G>A
NM_000136.3(FANCC):c.1534-5T>G rs730881727
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser) rs201379302
NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys) rs752855423
NM_000136.3(FANCC):c.1568T>C (p.Ile523Thr) rs1554827151
NM_000136.3(FANCC):c.156G>C (p.Leu52Phe) rs1060502518
NM_000136.3(FANCC):c.1570G>A (p.Gly524Ser)
NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu) rs587779901
NM_000136.3(FANCC):c.1589T>C (p.Leu530Ser) rs766809608
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys) rs55939573
NM_000136.3(FANCC):c.1596A>G (p.Arg532=)
NM_000136.3(FANCC):c.1603C>T (p.Arg535Cys) rs185822330
NM_000136.3(FANCC):c.1604G>A (p.Arg535His) rs587779902
NM_000136.3(FANCC):c.1607T>C (p.Leu536Pro) rs587779903
NM_000136.3(FANCC):c.160G>A (p.Glu54Lys) rs1564794487
NM_000136.3(FANCC):c.1618A>C (p.Ser540Arg)
NM_000136.3(FANCC):c.1622C>T (p.Pro541Leu) rs1554827120
NM_000136.3(FANCC):c.1627_1628delinsAA (p.Ser543Lys) rs864622417
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg) rs571668582
NM_000136.3(FANCC):c.1641_1658dup (p.Glu553_Leu554insAspArgGluLeuLeuLys)
NM_000136.3(FANCC):c.1643G>A (p.Arg548Gln) rs730881729
NM_000136.3(FANCC):c.164T>C (p.Met55Thr) rs1060502513
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.1669C>G (p.Gln557Glu) rs863224610
NM_000136.3(FANCC):c.1670_1674dup (p.Ter559LysextTer?) rs1554827101
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe)
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.3(FANCC):c.191T>G (p.Phe64Cys) rs375921240
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser)
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg) rs777111154
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr) rs567465885
NM_000136.3(FANCC):c.233C>A (p.Pro78His) rs138722298
NM_000136.3(FANCC):c.246A>G (p.Ala82=) rs1554857810
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys) rs140992397
NM_000136.3(FANCC):c.262A>C (p.Lys88Gln) rs1060502519
NM_000136.3(FANCC):c.271A>G (p.Ile91Val) rs771619614
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly) rs147479204
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201
NM_000136.3(FANCC):c.328C>G (p.Leu110Val) rs1554856102
NM_000136.3(FANCC):c.329T>C (p.Leu110Pro) rs777731560
NM_000136.3(FANCC):c.345+6A>T rs368595927
NM_000136.3(FANCC):c.345G>A (p.Gln115=) rs1031713372
NM_000136.3(FANCC):c.34T>G (p.Tyr12Asp) rs766173332
NM_000136.3(FANCC):c.34_36del (p.Tyr12del) rs1554858333
NM_000136.3(FANCC):c.371C>T (p.Ala124Val) rs374602991
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.397C>T (p.Leu133Phe) rs587779906
NM_000136.3(FANCC):c.3G>A (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg) rs1564720454
NM_000136.3(FANCC):c.424C>G (p.Pro142Ala) rs864622581
NM_000136.3(FANCC):c.433T>C (p.Tyr145His) rs751054264
NM_000136.3(FANCC):c.436_438del (p.Tyr146del) rs761347179
NM_000136.3(FANCC):c.437A>C (p.Tyr146Ser) rs1564720359
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu) rs730881711
NM_000136.3(FANCC):c.457-7T>C rs749994612
NM_000136.3(FANCC):c.46A>G (p.Met16Val) rs1390412870
NM_000136.3(FANCC):c.46A>T (p.Met16Leu) rs1390412870
NM_000136.3(FANCC):c.472G>C (p.Ala158Pro) rs372338418
NM_000136.3(FANCC):c.491A>T (p.Asn164Ile) rs950623649
NM_000136.3(FANCC):c.509A>G (p.Asn170Ser) rs749322338
NM_000136.3(FANCC):c.511A>G (p.Thr171Ala) rs1554842592
NM_000136.3(FANCC):c.521+5G>A
NM_000136.3(FANCC):c.521G>A (p.Arg174Gln) rs755283850
NM_000136.3(FANCC):c.522-4A>G rs371422485
NM_000136.3(FANCC):c.523A>G (p.Met175Val) rs876661083
NM_000136.3(FANCC):c.532G>A (p.Glu178Lys) rs554302947
NM_000136.3(FANCC):c.536G>A (p.Arg179Gln) rs538875706
NM_000136.3(FANCC):c.542C>T (p.Ala181Val) rs182879858
NM_000136.3(FANCC):c.549G>T (p.Leu183=) rs863224611
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln) rs370346767
NM_000136.3(FANCC):c.558_563del (p.Cys187_Val188del) rs1554838595
NM_000136.3(FANCC):c.560G>A (p.Cys187Tyr) rs1239389302
NM_000136.3(FANCC):c.565C>G (p.Pro189Ala) rs377620735
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr)
NM_000136.3(FANCC):c.584A>G (p.Asp195Gly) rs1800365
NM_000136.3(FANCC):c.591C>G (p.Asp197Glu) rs1457631500
NM_000136.3(FANCC):c.603G>T (p.Glu201Asp) rs1060502516
NM_000136.3(FANCC):c.607C>T (p.Leu203Phe) rs878853672
NM_000136.3(FANCC):c.620A>T (p.His207Leu) rs202038890
NM_000136.3(FANCC):c.625C>T (p.Arg209Cys) rs373270404
NM_000136.3(FANCC):c.626G>A (p.Arg209His) rs587778327
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.650C>T (p.Pro217Leu) rs730881714
NM_000136.3(FANCC):c.652G>C (p.Glu218Gln) rs752339229
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815
NM_000136.3(FANCC):c.673G>A (p.Glu225Lys) rs374176091
NM_000136.3(FANCC):c.679A>G (p.Ile227Val) rs864622550
NM_000136.3(FANCC):c.687G>A (p.Leu229=) rs864622527
NM_000136.3(FANCC):c.689_691AGA[1] (p.Lys231del) rs3831244
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.3(FANCC):c.733C>T (p.Arg245Trp) rs571548182
NM_000136.3(FANCC):c.745A>G (p.Ser249Gly) rs539583288
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile) rs778966663
NM_000136.3(FANCC):c.760A>G (p.Met254Val) rs757294568
NM_000136.3(FANCC):c.767A>G (p.His256Arg) rs730881716
NM_000136.3(FANCC):c.770T>C (p.Leu257Pro) rs1060502515
NM_000136.3(FANCC):c.790A>G (p.Ser264Gly) rs111657009
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg) rs730881717
NM_000136.3(FANCC):c.800A>G (p.Asn267Ser) rs200854639
NM_000136.3(FANCC):c.802T>A (p.Cys268Ser) rs730881718
NM_000136.3(FANCC):c.80C>T (p.Thr27Ile) rs1489419613
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.3(FANCC):c.823T>C (p.Phe275Leu) rs745621828
NM_000136.3(FANCC):c.826A>G (p.Ile276Val) rs377085045
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr) rs757190154
NM_000136.3(FANCC):c.838T>C (p.Ser280Pro)
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) rs749230615
NM_000136.3(FANCC):c.843+5G>A rs369082921
NM_000136.3(FANCC):c.847C>A (p.Gln283Lys) rs1564667865
NM_000136.3(FANCC):c.851C>T (p.Ala284Val) rs201281511
NM_000136.3(FANCC):c.871T>C (p.Phe291Leu)
NM_000136.3(FANCC):c.875G>A (p.Arg292Gln) rs747060782
NM_000136.3(FANCC):c.891G>T (p.Met297Ile) rs1554833192
NM_000136.3(FANCC):c.896+6C>T rs199525333
NM_000136.3(FANCC):c.897-3C>T rs1057521714
NM_000136.3(FANCC):c.897-8T>C rs878853673
NM_000136.3(FANCC):c.897G>T (p.Arg299Ser)
NM_000136.3(FANCC):c.8A>C (p.Gln3Pro) rs1415268424
NM_000136.3(FANCC):c.916G>A (p.Asp306Asn) rs772992002
NM_000136.3(FANCC):c.918T>G (p.Asp306Glu) rs1564665867
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000136.3(FANCC):c.941_943dup (p.Thr314dup) rs1554832862
NM_000136.3(FANCC):c.956C>T (p.Thr319Met)
NM_000136.3(FANCC):c.974C>T (p.Ala325Val) rs367618818
NM_000136.3(FANCC):c.990C>A (p.Ser330Arg) rs374915316
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg) rs374915316
NM_000136.3(FANCC):c.992A>G (p.Lys331Arg) rs756408779
NM_000136.3(FANCC):c.997-3C>T rs878853674
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro) rs864622191
NM_000136.3(FANCC):c.9A>T (p.Gln3His) rs769585639
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.1054G>A (p.Ala352Thr)
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.4del (p.Ala2fs) rs752560204
NM_000178.4(GSS):c.631C>G (p.Gln211Glu)
NM_000178.4(GSS):c.73C>G (p.Arg25Gly) rs930264754
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.941C>T (p.Pro314Leu) rs75863437
NM_000178.4(GSS):c.957G>A (p.Met319Ile) rs202181009
NM_000184.2(HBG2):c.-211C>T rs7482144
NM_000186.3(CFH):c.*14G>A rs463726
NM_000186.3(CFH):c.-175T>C rs762143457
NM_000186.3(CFH):c.-61A>G rs886045741
NM_000186.3(CFH):c.103G>A (p.Gly35Ser) rs886045742
NM_000186.3(CFH):c.1336+4A>G
NM_000186.3(CFH):c.2215A>G (p.Thr739Ala) rs886045745
NM_000186.3(CFH):c.2461C>T (p.His821Tyr) rs367687415
NM_000186.3(CFH):c.2542G>A (p.Gly848Arg) rs886045746
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.285T>C (p.Thr95=) rs148182625
NM_000186.3(CFH):c.3004G>C (p.Gly1002Arg) rs201816520
NM_000186.3(CFH):c.3134-7T>C rs779166622
NM_000186.3(CFH):c.3310+12T>C rs757045842
NM_000186.3(CFH):c.428-3C>T rs886045744
NM_000186.3(CFH):c.481G>T (p.Ala161Ser) rs777300338
NM_000186.3(CFH):c.59-10T>G
NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile) rs886042455
NM_000194.3(HPRT1):c.536T>C (p.Val179Ala) rs1569360120
NM_000194.3(HPRT1):c.648del (p.Lys215_Tyr216insTer)
NM_000194.3(HPRT1):c.653C>G (p.Ala218Gly)
NM_000204.4(CFI):c.-98T>C rs886058984
NM_000204.4(CFI):c.1112G>T (p.Gly371Val) rs763931500
NM_000204.4(CFI):c.129C>T (p.Cys43=) rs146462954
NM_000204.4(CFI):c.1381T>C (p.Phe461Leu) rs886058983
NM_000204.4(CFI):c.1429+5A>G rs771786368
NM_000204.4(CFI):c.1429G>C (p.Asp477His) rs754972981
NM_000204.4(CFI):c.1516A>C (p.Lys506Gln) rs886058982
NM_000204.4(CFI):c.1532C>T (p.Ala511Val) rs760801046
NM_000204.4(CFI):c.1709G>C (p.Ser570Thr) rs200973120
NM_000204.4(CFI):c.205A>G (p.Lys69Glu) rs771325547
NM_000204.4(CFI):c.209A>C (p.Asn70Thr)
NM_000204.4(CFI):c.309C>T (p.Asn103=) rs761425840
NM_000204.4(CFI):c.405T>C (p.Asp135=) rs375792874
NM_000204.4(CFI):c.540A>G (p.Glu180=) rs759777516
NM_000229.2(LCAT):c.*12T>C rs886052219
NM_000229.2(LCAT):c.1039C>T (p.Arg347Cys) rs202017590
NM_000229.2(LCAT):c.159C>T (p.Pro53=) rs556480808
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.*1118C>T rs144013236
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.*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.*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.-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>A (p.Ala339Glu) rs137956833
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.1477G>T (p.Ala493Ser) rs758939873
NM_000253.3(MTTP):c.1769+3A>G rs375993709
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.2657C>T (p.Pro886Leu) rs144600401
NM_000253.3(MTTP):c.394-7C>T rs368989581
NM_000253.3(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_000253.3(MTTP):c.502G>A (p.Val168Ile) rs61750974
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.799T>C (p.Leu267=) rs7672497
NM_000253.3(MTTP):c.833A>G (p.Lys278Arg) rs886058957
NM_000253.3(MTTP):c.901T>C (p.Cys301Arg) rs759706918
NM_000254.2(MTR):c.1067T>C (p.Leu356Ser) rs1286773616
NM_000254.2(MTR):c.1074T>C (p.Ser358=)
NM_000254.2(MTR):c.1522G>C (p.Glu508Gln)
NM_000254.2(MTR):c.1575A>T (p.Lys525Asn) rs199700767
NM_000254.2(MTR):c.1862A>G (p.Asp621Gly)
NM_000254.2(MTR):c.1954-6A>G rs1553321372
NM_000254.2(MTR):c.2165T>C (p.Leu722Pro) rs1553321807
NM_000254.2(MTR):c.2304+3A>C
NM_000254.2(MTR):c.2684A>C (p.Gln895Pro)
NM_000254.2(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.2(MTR):c.3140A>T (p.Tyr1047Phe)
NM_000254.2(MTR):c.3227C>T (p.Thr1076Met)
NM_000254.2(MTR):c.3490C>T (p.Arg1164Cys)
NM_000254.2(MTR):c.3514C>T (p.Arg1172Cys)
NM_000254.2(MTR):c.899C>T (p.Thr300Met)
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.-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.1005A>G (p.Val335=) rs1454843075
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) rs762357629
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly)
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011
NM_000289.6(PFKM):c.2199-12A>G rs202008060
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser)
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser)
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.638+15C>A rs376150217
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144
NM_000298.6(PKLR):c.*1041C>T rs528740550
NM_000298.6(PKLR):c.*1067T>C rs559809916
NM_000298.6(PKLR):c.*13T>G rs1052177
NM_000298.6(PKLR):c.*14C>T rs8177994
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.1379T>C (p.Val460Ala) rs149946271
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp) rs200133000
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641
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.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.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_000324.2(RHAG):c.1007T>C (p.Leu336Ser) rs1554172605
NM_000342.4(SLC4A1):c.*1198A>T rs886052992
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.*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.*1832G>A rs886052988
NM_000342.4(SLC4A1):c.*351G>T rs138242019
NM_000342.4(SLC4A1):c.*872G>C rs886052994
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.1225G>A (p.Val409Ile) rs201821517
NM_000342.4(SLC4A1):c.1431+13T>G rs747632229
NM_000342.4(SLC4A1):c.1431+15G>T rs886052999
NM_000342.4(SLC4A1):c.1637A>G (p.Asp546Gly) rs886052998
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys) rs368863744
NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys) rs13306787
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.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr) rs765911147
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160
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_000355.3(TCN2):c.-181A>C rs2240433
NM_000355.3(TCN2):c.-191G>A rs886057394
NM_000355.3(TCN2):c.-244C>T rs143029449
NM_000355.4(TCN2):c.*209G>C rs146450057
NM_000355.4(TCN2):c.*300T>G rs187942607
NM_000355.4(TCN2):c.*381T>G rs149713328
NM_000355.4(TCN2):c.*382C>T rs56076607
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.1052C>T (p.Ala351Val)
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.109C>T (p.His37Tyr)
NM_000355.4(TCN2):c.1109A>G (p.Tyr370Cys)
NM_000355.4(TCN2):c.1168G>A (p.Gly390Arg) rs367605153
NM_000355.4(TCN2):c.1195C>G (p.Arg399Gly) rs769817524
NM_000355.4(TCN2):c.1235A>G (p.Tyr412Cys) rs745363222
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly) rs148963479
NM_000355.4(TCN2):c.1246G>A (p.Asp416Asn)
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551
NM_000355.4(TCN2):c.154C>T (p.Pro52Ser) rs1555894597
NM_000355.4(TCN2):c.164A>G (p.Tyr55Cys)
NM_000355.4(TCN2):c.175C>T (p.Arg59Cys) rs757905563
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865
NM_000355.4(TCN2):c.299C>T (p.Pro100Leu)
NM_000355.4(TCN2):c.323A>T (p.Tyr108Phe)
NM_000355.4(TCN2):c.353T>C (p.Phe118Ser) rs199728304
NM_000355.4(TCN2):c.362G>A (p.Gly121Asp)
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp) rs886057396
NM_000355.4(TCN2):c.409G>A (p.Asp137Asn) rs775586639
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.566G>A (p.Gly189Asp)
NM_000355.4(TCN2):c.572A>G (p.His191Arg)
NM_000355.4(TCN2):c.64+11C>T rs141519384
NM_000355.4(TCN2):c.644G>A (p.Arg215Gln) rs760721315
NM_000355.4(TCN2):c.65-6T>A
NM_000355.4(TCN2):c.70C>A (p.Pro24Thr)
NM_000355.4(TCN2):c.70C>T (p.Pro24Ser) rs755866662
NM_000355.4(TCN2):c.737C>T (p.Thr246Ile)
NM_000355.4(TCN2):c.809C>T (p.Ala270Val) rs201392026
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.843A>T (p.Gly281=)
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_000361.2(THBD):c.*1153A>G rs886056542
NM_000361.2(THBD):c.*1315C>T rs886056541
NM_000361.2(THBD):c.*1689C>T rs886056540
NM_000361.2(THBD):c.*1869G>A rs886056539
NM_000361.2(THBD):c.*508dupT rs373979588
NM_000361.2(THBD):c.*562G>C rs886056544
NM_000361.2(THBD):c.*663C>T rs886056543
NM_000361.2(THBD):c.*943dupT rs759004623
NM_000361.2(THBD):c.-38G>A rs750724405
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.1528G>A (p.Val510Met) rs555537779
NM_000361.2(THBD):c.1712C>T (p.Thr571Met) rs1166732867
NM_000361.2(THBD):c.331G>A (p.Val111Ile) rs886056549
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.683C>T (p.Pro228Leu) rs375011249
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_000373.4(UMPS):c.*1050C>T rs186445088
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.*1298_*1299del rs11330991
NM_000373.4(UMPS):c.*1306_*1307del rs777742646
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.*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.*2230C>T rs565272396
NM_000373.4(UMPS):c.*2356T>C rs148772995
NM_000373.4(UMPS):c.*2410_*2412del rs886057878
NM_000373.4(UMPS):c.*2605G>A rs554810943
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.*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.*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.*3447T>C rs764528076
NM_000373.4(UMPS):c.*3495T>C rs886057891
NM_000373.4(UMPS):c.*3598C>G rs886057892
NM_000373.4(UMPS):c.*3701C>T rs768769772
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.*4178A>G rs758463509
NM_000373.4(UMPS):c.*4215C>T rs780219461
NM_000373.4(UMPS):c.*4231A>G rs886057895
NM_000373.4(UMPS):c.*4263T>C rs558675693
NM_000373.4(UMPS):c.*4344T>C rs180944864
NM_000373.4(UMPS):c.*4496G>A rs886057896
NM_000373.4(UMPS):c.*4511G>A rs569255721
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.*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.*691C>G rs886057872
NM_000373.4(UMPS):c.*814C>T rs763914466
NM_000373.4(UMPS):c.*868del rs570945751
NM_000373.4(UMPS):c.-19A>G rs747117815
NM_000373.4(UMPS):c.1157C>T (p.Ala386Val) rs202158549
NM_000373.4(UMPS):c.1273+14C>T rs374339942
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.827G>A (p.Ser276Asn) rs140804035
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) rs200305064
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.-232G>A rs886046815
NM_000375.3(UROS):c.-27+10G>A rs376517536
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.475+14T>A rs17425877
NM_000375.3(UROS):c.512T>C (p.Val171Ala) rs17173752
NM_000375.3(UROS):c.691G>A (p.Ala231Thr) rs780837512
NM_000384.2(APOB):c.12088-13dupT rs751121092
NM_000384.3(APOB):c.*179C>T rs142151703
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.1075A>G (p.Ser359Gly) rs757383498
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr) rs141982176
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.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.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.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.12807T>C (p.Tyr4269=) rs181340304
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.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.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.2160C>T (p.Tyr720=) rs756184175
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys) rs143425834
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.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.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.3509-11C>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.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.4216+4A>G rs886055588
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.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.5913G>A (p.Leu1971=) rs374251542
NM_000384.3(APOB):c.602C>T (p.Thr201Ile) rs886055594
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.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.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.8231C>T (p.Pro2744Leu) rs886055582
NM_000384.3(APOB):c.83-11C>T rs372452800
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.9202A>G (p.Ile3068Val) rs778492524
NM_000384.3(APOB):c.9294C>T (p.Tyr3098=) rs145777339
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_000487.6(ARSA):c.947C>A (p.Ala316Asp) rs1569078754
NM_000489.5(ATRX):c.1004G>C (p.Cys335Ser)
NM_000489.5(ATRX):c.1111G>C (p.Val371Leu)
NM_000489.5(ATRX):c.1130C>T (p.Ala377Val)
NM_000489.5(ATRX):c.1159A>G (p.Thr387Ala)
NM_000489.5(ATRX):c.1264G>A (p.Ala422Thr)
NM_000489.5(ATRX):c.1322_1324del (p.Thr441del) rs1569539303
NM_000489.5(ATRX):c.1509A>G (p.Gln503=)
NM_000489.5(ATRX):c.1645A>G (p.Ser549Gly)
NM_000489.5(ATRX):c.1674T>A (p.Ser558Arg) rs1569539199
NM_000489.5(ATRX):c.167T>A (p.Met56Lys)
NM_000489.5(ATRX):c.16A>G (p.Met6Val)
NM_000489.5(ATRX):c.1781C>G (p.Ser594Cys) rs782774889
NM_000489.5(ATRX):c.1798A>G (p.Ile600Val)
NM_000489.5(ATRX):c.189G>A (p.Glu63=) rs587778082
NM_000489.5(ATRX):c.1960C>G (p.Arg654Gly) rs1557140492
NM_000489.5(ATRX):c.2105A>G (p.Asn702Ser) rs782409603
NM_000489.5(ATRX):c.2225G>C (p.Ser742Thr)
NM_000489.5(ATRX):c.2241_2243TTC[2] (p.Ser750del) rs1297294136
NM_000489.5(ATRX):c.2262T>G (p.Ile754Met) rs1557140015
NM_000489.5(ATRX):c.2292G>C (p.Leu764Phe) rs1557139933
NM_000489.5(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.5(ATRX):c.2316G>T (p.Gly772=) rs1187990991
NM_000489.5(ATRX):c.2388A>C (p.Lys796Asn)
NM_000489.5(ATRX):c.2461_2466del (p.Leu821_Glu822del) rs781862926
NM_000489.5(ATRX):c.2472G>C (p.Glu824Asp) rs1557139572
NM_000489.5(ATRX):c.2484G>C (p.Met828Ile) rs782705007
NM_000489.5(ATRX):c.2492T>C (p.Ile831Thr)
NM_000489.5(ATRX):c.2494G>A (p.Gly832Ser)
NM_000489.5(ATRX):c.2507C>A (p.Thr836Asn)
NM_000489.5(ATRX):c.2581G>A (p.Asp861Asn) rs782629714
NM_000489.5(ATRX):c.2615A>T (p.Gln872Leu)
NM_000489.5(ATRX):c.2658G>C (p.Glu886Asp)
NM_000489.5(ATRX):c.2674G>A (p.Glu892Lys)
NM_000489.5(ATRX):c.2696C>T (p.Thr899Met) rs782757975
NM_000489.5(ATRX):c.2730G>C (p.Lys910Asn) rs1206627354
NM_000489.5(ATRX):c.2752A>G (p.Thr918Ala)
NM_000489.5(ATRX):c.2770C>A (p.Leu924Ile) rs1569538903
NM_000489.5(ATRX):c.2794A>G (p.Thr932Ala) rs1557138839
NM_000489.5(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431
NM_000489.5(ATRX):c.2890A>G (p.Ile964Val)
NM_000489.5(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078
NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153
NM_000489.5(ATRX):c.3349A>G (p.Met1117Val) rs1569538741
NM_000489.5(ATRX):c.3498_3500del (p.Lys1169del) rs782695846
NM_000489.5(ATRX):c.3505A>C (p.Lys1169Gln) rs1225665090
NM_000489.5(ATRX):c.3538A>G (p.Ile1180Val)
NM_000489.5(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.5(ATRX):c.357G>C (p.Gln119His) rs959739617
NM_000489.5(ATRX):c.3664G>A (p.Asp1222Asn) rs782520515
NM_000489.5(ATRX):c.371-4C>G
NM_000489.5(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.5(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767
NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812
NM_000489.5(ATRX):c.4096G>A (p.Val1366Ile) rs1280555560
NM_000489.5(ATRX):c.4177G>C (p.Val1393Leu) rs147331649
NM_000489.5(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568
NM_000489.5(ATRX):c.4227_4230delinsT (p.Lys1409_Ala1410delinsAsn)
NM_000489.5(ATRX):c.4233G>T (p.Glu1411Asp)
NM_000489.5(ATRX):c.4332_4334AGA[1] (p.Glu1448del)
NM_000489.5(ATRX):c.4344_4358del (p.Lys1449_Glu1453del)
NM_000489.5(ATRX):c.4347_4358del (p.Glu1461_Glu1464del) rs1557117424
NM_000489.5(ATRX):c.4353_4355GGA[2] (p.Glu1464del) rs782630348
NM_000489.5(ATRX):c.4366G>A (p.Glu1456Lys)
NM_000489.5(ATRX):c.4620_4625TGAAGA[1] (p.1540_1541DE[1]) rs797045406
NM_000489.5(ATRX):c.5536C>T (p.Leu1846Phe) rs1557097008
NM_000489.5(ATRX):c.5565A>G (p.Thr1855=) rs1557096967
NM_000489.5(ATRX):c.5573G>A (p.Gly1858Asp)
NM_000489.5(ATRX):c.5935G>C (p.Val1979Leu)
NM_000489.5(ATRX):c.5968_5970TCT[2] (p.Ser1992del) rs782391479
NM_000489.5(ATRX):c.6379G>A (p.Val2127Ile)
NM_000489.5(ATRX):c.6484G>A (p.Val2162Ile) rs1569523175
NM_000489.5(ATRX):c.6730C>T (p.His2244Tyr) rs1569515985
NM_000489.5(ATRX):c.6794A>G (p.Glu2265Gly) rs1557042387
NM_000489.5(ATRX):c.6863G>A (p.Arg2288His) rs1135401774
NM_000489.5(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478
NM_000489.5(ATRX):c.6978C>A (p.Asp2326Glu) rs1569515631
NM_000489.5(ATRX):c.7379A>G (p.Tyr2460Cys)
NM_000489.5(ATRX):c.737G>T (p.Arg246Leu)
NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136
NM_000489.5(ATRX):c.829G>C (p.Val277Leu) rs1569539465
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.5(HBB):c.*53C>A rs886048393
NM_000518.5(HBB):c.*56A>T rs537944366
NM_000518.5(HBB):c.*91G>A rs193922549
NM_000518.5(HBB):c.-106G>C rs63750681
NM_000518.5(HBB):c.-133G>A rs72561473
NM_000518.5(HBB):c.-15C>A rs193922550
NM_000518.5(HBB):c.-25T>C rs886039874
NM_000518.5(HBB):c.-31C>T rs63750628
NM_000518.5(HBB):c.-51T>C rs386134236
NM_000518.5(HBB):c.-92C>G rs397515291
NM_000518.5(HBB):c.309C>A (p.Asn103Lys) rs34227486
NM_000518.5(HBB):c.316-30A>C rs193922558
NM_000518.5(HBB):c.316-70C>G rs193922560
NM_000518.5(HBB):c.353A>G (p.His118Arg) rs33935673
NM_000518.5(HBB):c.93-23T>C rs111851677
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.-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.1197G>C (p.Glu399Asp) rs121918365
NM_000617.3(SLC11A2):c.1206G>A (p.Leu402=) rs761054843
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.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.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.625G>A (p.Ala209Thr) rs115874705
NM_000617.3(SLC11A2):c.647C>T (p.Thr216Ile) rs886049567
NM_000617.3(SLC11A2):c.715G>A (p.Gly239Ser)
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.*500C>T rs528060683
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.-46C>G rs376208311
NM_000969.5(RPL5):c.-48G>A rs376070413
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.170A>G (p.Asn57Ser) rs1553285028
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys) rs750383596
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr)
NM_000969.5(RPL5):c.269T>C (p.Val90Ala)
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
NM_000969.5(RPL5):c.613G>A (p.Ala205Thr)
NM_000969.5(RPL5):c.700G>T (p.Asp234Tyr) rs938367538
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly)
NM_000969.5(RPL5):c.781G>C (p.Val261Leu) rs773839391
NM_000969.5(RPL5):c.803G>A (p.Arg268His)
NM_000969.5(RPL5):c.868G>A (p.Ala290Thr) rs1060503545
NM_000975.5(RPL11):c.-14T>C rs886046307
NM_000975.5(RPL11):c.102G>A (p.Thr34=) rs199772693
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.4G>T (p.Ala2Ser) rs1553121574
NM_000975.5(RPL11):c.5C>T (p.Ala2Val)
NM_000987.5(RPL26):c.153G>A (p.Lys51=)
NM_000987.5(RPL26):c.259C>T (p.Arg87Trp) rs878854147
NM_000996.4(RPL35A):c.-31C>T rs766043927
NM_000996.4(RPL35A):c.-37T>G rs886058265
NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp) rs1560123334
NM_000996.4(RPL35A):c.309+4A>T rs1270507770
NM_001011.4(RPS7):c.-13C>T rs765604580
NM_001011.4(RPS7):c.-23G>A rs886055985
NM_001011.4(RPS7):c.-27C>T rs573443780
NM_001011.4(RPS7):c.-44C>T rs563293592
NM_001011.4(RPS7):c.274_276GTC[1] (p.Val93del) rs1553342919
NM_001011.4(RPS7):c.292-9A>T rs746941533
NM_001011.4(RPS7):c.39C>T (p.Gly13=) rs746686516
NM_001011.4(RPS7):c.433C>T (p.Arg145Cys)
NM_001011.4(RPS7):c.518T>C (p.Phe173Ser) rs1558474062
NM_001011.4(RPS7):c.519T>A (p.Phe173Leu)
NM_001011.4(RPS7):c.75+13C>T rs751796318
NM_001014.5(RPS10):c.*25G>T rs886061321
NM_001014.5(RPS10):c.-32del rs767826894
NM_001014.5(RPS10):c.-38_-37del rs886061323
NM_001014.5(RPS10):c.222G>A (p.Glu74=)
NM_001014.5(RPS10):c.261G>A (p.Pro87=) rs781484971
NM_001014.5(RPS10):c.322+2_322+4dup rs1554164160
NM_001014.5(RPS10):c.364G>A (p.Ala122Thr) rs886061322
NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met) rs138192474
NM_001018113.3(FANCB):c.1104+4A>G rs1555906676
NM_001018113.3(FANCB):c.1133A>C (p.Asp378Ala) rs1569088991
NM_001018113.3(FANCB):c.1288G>A (p.Val430Ile)
NM_001018113.3(FANCB):c.1331A>T (p.Glu444Val)
NM_001018113.3(FANCB):c.1342C>T (p.Pro448Ser) rs867778700
NM_001018113.3(FANCB):c.1372C>T (p.His458Tyr)
NM_001018113.3(FANCB):c.1487C>T (p.Ser496Phe) rs993307430
NM_001018113.3(FANCB):c.1541A>G (p.His514Arg) rs1555904475
NM_001018113.3(FANCB):c.1605C>G (p.Phe535Leu) rs1555904458
NM_001018113.3(FANCB):c.1655T>C (p.Val552Ala) rs1569083698
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151
NM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu) rs1555904350
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761
NM_001018113.3(FANCB):c.2098T>C (p.Phe700Leu) rs1232355920
NM_001018113.3(FANCB):c.2117C>T (p.Thr706Ile) rs1278850689
NM_001018113.3(FANCB):c.2125C>G (p.Gln709Glu) rs1060501875
NM_001018113.3(FANCB):c.2168A>G (p.Asn723Ser)
NM_001018113.3(FANCB):c.2267T>C (p.Ile756Thr)
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly)
NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala) rs1020168794
NM_001018113.3(FANCB):c.30C>A (p.Asn10Lys) rs750078094
NM_001018113.3(FANCB):c.388A>G (p.Met130Val) rs776724055
NM_001018113.3(FANCB):c.477A>C (p.Lys159Asn) rs1569092592
NM_001018113.3(FANCB):c.510T>G (p.Ile170Met) rs775216604
NM_001018113.3(FANCB):c.52T>C (p.Tyr18His) rs996732250
NM_001018113.3(FANCB):c.552G>A (p.Leu184=)
NM_001018113.3(FANCB):c.587G>A (p.Cys196Tyr) rs1366041068
NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln) rs747819351
NM_001018113.3(FANCB):c.716A>T (p.Tyr239Phe) rs1555907444
NM_001018113.3(FANCB):c.7A>G (p.Ser3Gly) rs139111718
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg)
NM_001018113.3(FANCB):c.884G>A (p.Gly295Glu) rs1270593506
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe)
NM_001018113.3(FANCB):c.923C>T (p.Ala308Val)
NM_001018115.2(FANCD2):c.4281+179C>T rs370459744
NM_001018115.2(FANCD2):c.4281+257C>T rs886057694
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+597C>T rs548255173
NM_001018115.2(FANCD2):c.4281+823A>G rs886057697
NM_001022.3(RPS19):c.-139C>T rs886054467
NM_001022.3(RPS19):c.-151G>T rs886054466
NM_001022.3(RPS19):c.-339T>C rs886054465
NM_001022.3(RPS19):c.-74C>T rs886054468
NM_001022.3(RPS19):c.71+12delG rs886054470
NM_001022.4(RPS19):c.-1+14C>T rs886054469
NM_001022.4(RPS19):c.-10A>G rs564634801
NM_001022.4(RPS19):c.1-9C>A rs376460080
NM_001022.4(RPS19):c.164C>T (p.Thr55Met) rs147508369
NM_001022.4(RPS19):c.172+5G>C rs886054471
NM_001022.4(RPS19):c.175_176delinsCT (p.Ser59Leu)
NM_001022.4(RPS19):c.410A>G (p.Gln137Arg)
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104
NM_001029.5(RPS26):c.-149G>T rs886049686
NM_001029.5(RPS26):c.-33C>T rs372794158
NM_001029.5(RPS26):c.-80C>T rs886049687
NM_001029.5(RPS26):c.312G>A (p.Ala104=)
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.*230A>G rs371690622
NM_001040436.3(YARS2):c.*24A>G rs368305831
NM_001040436.3(YARS2):c.*360A>G rs567955032
NM_001040436.3(YARS2):c.*627A>T rs886049303
NM_001040436.3(YARS2):c.*62G>A rs527443669
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.180G>A (p.Glu60=) rs137922867
NM_001040436.3(YARS2):c.234T>C (p.Cys78=) rs565102282
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.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.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.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.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.521C>T (p.Ser174Leu) rs150679929
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.686T>C (p.Ile229Thr) rs764361166
NM_001063.4(TF):c.829G>A (p.Gly277Ser) rs1799899
NM_001063.4(TF):c.956A>G (p.His319Arg) rs41295774
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.*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.*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.*734A>G rs751683958
NM_001081.3(CUBN):c.*737T>C rs114039309
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.-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.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.10267G>A (p.Val3423Ile) rs145872906
NM_001081.3(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638
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.10471A>G (p.Ser3491Gly) rs1183879233
NM_001081.3(CUBN):c.10612G>A (p.Glu3538Lys)
NM_001081.3(CUBN):c.10641G>A (p.Arg3547=) rs145909413
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.1110A>C (p.Leu370=) rs886046878
NM_001081.3(CUBN):c.1111+5T>C rs199662739
NM_001081.3(CUBN):c.1530+12A>C rs138936163
NM_001081.3(CUBN):c.1558C>T (p.Arg520Trp) rs564637804
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.1926C>T (p.Asp642=) rs201938886
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001081.3(CUBN):c.1999A>G (p.Thr667Ala)
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.2203G>A (p.Val735Ile) rs370770104
NM_001081.3(CUBN):c.2306G>A (p.Arg769Gln)
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.2536A>G (p.Ile846Val) rs775423928
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.2810C>G (p.Thr937Arg)
NM_001081.3(CUBN):c.2822G>A (p.Gly941Glu)
NM_001081.3(CUBN):c.2922C>T (p.Phe974=) rs201802902
NM_001081.3(CUBN):c.2929T>C (p.Phe977Leu)
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.322A>G (p.Ser108Gly) rs1564526263
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.3391A>G (p.Thr1131Ala)
NM_001081.3(CUBN):c.348+2T>C
NM_001081.3(CUBN):c.349-9T>C rs375431948
NM_001081.3(CUBN):c.349C>A (p.Leu117Met)
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.3646C>G (p.Pro1216Ala)
NM_001081.3(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360
NM_001081.3(CUBN):c.3823C>T (p.Arg1275Trp)
NM_001081.3(CUBN):c.387+13C>T rs766779196
NM_001081.3(CUBN):c.3896C>G (p.Pro1299Arg) rs752570169
NM_001081.3(CUBN):c.3932G>A (p.Arg1311Gln)
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.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.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.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.5302_5304del (p.Ile1768del) rs775161946
NM_001081.3(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.3(CUBN):c.5343-6A>G rs776579478
NM_001081.3(CUBN):c.536G>T (p.Gly179Val)
NM_001081.3(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438
NM_001081.3(CUBN):c.5459A>G (p.Tyr1820Cys)
NM_001081.3(CUBN):c.5470G>A (p.Val1824Ile)
NM_001081.3(CUBN):c.5569G>A (p.Val1857Met) rs886046873
NM_001081.3(CUBN):c.5580T>A (p.His1860Gln) rs980358703
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.5806_5807delinsAA (p.Ser1936Asn) rs1554796668
NM_001081.3(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
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.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.6020C>T (p.Thr2007Met)
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.6125-2A>G rs75386064
NM_001081.3(CUBN):c.6180G>A (p.Gly2060=) rs534571792
NM_001081.3(CUBN):c.6225G>A (p.Ser2075=) rs75737363
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.6479A>G (p.Asp2160Gly) rs144704318
NM_001081.3(CUBN):c.6661G>A (p.Val2221Ile) rs143291127
NM_001081.3(CUBN):c.671G>A (p.Arg224His) rs139891639
NM_001081.3(CUBN):c.6728C>T (p.Pro2243Leu)
NM_001081.3(CUBN):c.6729G>A (p.Pro2243=) rs757609735
NM_001081.3(CUBN):c.6833A>G (p.Asn2278Ser)
NM_001081.3(CUBN):c.6847C>T (p.Arg2283Trp)
NM_001081.3(CUBN):c.6924A>T (p.Ser2308=) rs115303408
NM_001081.3(CUBN):c.6997A>G (p.Ile2333Val) rs149507036
NM_001081.3(CUBN):c.7001-4G>A rs886046871
NM_001081.3(CUBN):c.7007G>A (p.Cys2336Tyr)
NM_001081.3(CUBN):c.704G>C (p.Arg235Pro)
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.7331G>A (p.Arg2444Gln)
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.7390A>C (p.Thr2464Pro)
NM_001081.3(CUBN):c.7403A>G (p.Tyr2468Cys)
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.7797C>G (p.Cys2599Trp) rs138758085
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.8021G>A (p.Arg2674His) rs184746130
NM_001081.3(CUBN):c.8062+5G>A rs886046866
NM_001081.3(CUBN):c.8071G>A (p.Gly2691Arg)
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.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.8278A>G (p.Ile2760Val)
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.8578T>G (p.Cys2860Gly)
NM_001081.3(CUBN):c.8599-8C>T rs199774490
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.8680C>G (p.Pro2894Ala)
NM_001081.3(CUBN):c.8701G>A (p.Val2901Ile) rs201093611
NM_001081.3(CUBN):c.8711C>T (p.Ser2904Phe)
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.8943C>T (p.Gly2981=) rs767131065
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.9053A>C (p.Tyr3018Ser) rs370778353
NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299
NM_001081.3(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444
NM_001081.3(CUBN):c.910G>A (p.Glu304Lys) rs78201384
NM_001081.3(CUBN):c.9166G>A (p.Ala3056Thr)
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.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.9555T>G (p.Cys3185Trp)
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.9922T>C (p.Trp3308Arg) rs752843169
NM_001082486.1(ACD):c.137delG (p.Arg46Leufs) rs753666055
NM_001082486.1(ACD):c.14G>A (p.Cys5Tyr) rs1555542868
NM_001082486.1(ACD):c.179T>G (p.Leu60Arg) rs753367228
NM_001082486.2(ACD):c.-188_-187inv (p.Trp24Ser)
NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg) rs1567640107
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn) rs142662151
NM_001082486.2(ACD):c.1178G>A (p.Arg393Lys)
NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser) rs201926842
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469
NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys)
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu)
NM_001082486.2(ACD):c.4G>C (p.Ala2Pro)
NM_001082486.2(ACD):c.644C>T (p.Thr215Met)
NM_001082486.2(ACD):c.645G>A (p.Thr215=)
NM_001082486.2(ACD):c.734G>A (p.Arg245Lys)
NM_001082486.2(ACD):c.737C>A (p.Thr246Lys) rs1555542235
NM_001082486.2(ACD):c.739C>A (p.Gln247Lys)
NM_001082486.2(ACD):c.741G>C (p.Gln247His)
NM_001082486.2(ACD):c.781C>G (p.Leu261Val)
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu)
NM_001082486.2(ACD):c.830-1G>A
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu)
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn)
NM_001082486.2(ACD):c.974C>T (p.Thr325Ile)
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr) rs202104741
NM_001099274.3(TINF2):c.1016C>T (p.Ala339Val) rs1566366492
NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser)
NM_001099274.3(TINF2):c.1073_1081dup (p.Met361_Asp362insAsnCysTyr)
NM_001099274.3(TINF2):c.1074T>C (p.Asp358=) rs886050430
NM_001099274.3(TINF2):c.1156G>A (p.Val386Ile)
NM_001099274.3(TINF2):c.115C>G (p.Arg39Gly)
NM_001099274.3(TINF2):c.1222G>C (p.Glu408Gln)
NM_001099274.3(TINF2):c.1253T>C (p.Phe418Ser) rs773286175
NM_001099274.3(TINF2):c.127G>A (p.Ala43Thr)
NM_001099274.3(TINF2):c.1288C>T (p.Pro430Ser)
NM_001099274.3(TINF2):c.1292del (p.Pro431fs)
NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val)
NM_001099274.3(TINF2):c.1337A>T (p.Asp446Val) rs532096263
NM_001099274.3(TINF2):c.218G>A (p.Gly73Asp) rs1566369238
NM_001099274.3(TINF2):c.28G>T (p.Ala10Ser)
NM_001099274.3(TINF2):c.302A>G (p.Lys101Arg) rs1375036989
NM_001099274.3(TINF2):c.400-5del rs769170035
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe)
NM_001099274.3(TINF2):c.569G>A (p.Arg190Lys)
NM_001099274.3(TINF2):c.61C>G (p.Gln21Glu)
NM_001099274.3(TINF2):c.640C>T (p.Pro214Ser)
NM_001099274.3(TINF2):c.684C>A (p.His228Gln)
NM_001099274.3(TINF2):c.718C>T (p.Leu240Phe)
NM_001099274.3(TINF2):c.743C>T (p.Thr248Met) rs552794694
NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln) rs779837822
NM_001099274.3(TINF2):c.778C>G (p.Leu260Val)
NM_001099274.3(TINF2):c.910G>A (p.Glu304Lys) rs1566366788
NM_001099274.3(TINF2):c.917A>G (p.Lys306Arg) rs1555304016
NM_001099274.3(TINF2):c.922G>C (p.Glu308Gln)
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.1028_1030TCC[1] (p.Leu344del)
NM_001113378.1(FANCI):c.1102G>A (p.Val368Met) rs1060501897
NM_001113378.1(FANCI):c.1111A>G (p.Ser371Gly) rs149008055
NM_001113378.1(FANCI):c.1112+3A>G rs367970067
NM_001113378.1(FANCI):c.1113-10G>C rs756650711
NM_001113378.1(FANCI):c.1176A>T (p.Ser392=) rs201871288
NM_001113378.1(FANCI):c.1250A>G (p.His417Arg)
NM_001113378.1(FANCI):c.1264G>A (p.Gly422Arg) rs146040966
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.1412C>G (p.Pro471Arg) rs139072231
NM_001113378.1(FANCI):c.1418T>G (p.Val473Gly)
NM_001113378.1(FANCI):c.1420C>A (p.Leu474Ile) rs746777753
NM_001113378.1(FANCI):c.1491A>G (p.Gln497=) rs145349375
NM_001113378.1(FANCI):c.1512+3A>G rs760846523
NM_001113378.1(FANCI):c.1531A>C (p.Met511Leu)
NM_001113378.1(FANCI):c.1556T>C (p.Leu519Pro) rs998713167
NM_001113378.1(FANCI):c.1564C>A (p.Arg522=) rs371568506
NM_001113378.1(FANCI):c.1564C>T (p.Arg522Trp) rs371568506
NM_001113378.1(FANCI):c.157+7A>G rs145165730
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) rs144908351
NM_001113378.1(FANCI):c.1654A>C (p.Ser552Arg) rs1060501899
NM_001113378.1(FANCI):c.1655G>A (p.Ser552Asn) rs1470686039
NM_001113378.1(FANCI):c.1656C>G (p.Ser552Arg) rs1060501901
NM_001113378.1(FANCI):c.1676G>T (p.Ser559Ile) rs1555446426
NM_001113378.1(FANCI):c.1699-3C>G rs372441627
NM_001113378.1(FANCI):c.1727A>G (p.Asn576Ser) rs573652425
NM_001113378.1(FANCI):c.1735G>A (p.Ala579Thr) rs147963936
NM_001113378.1(FANCI):c.1739A>G (p.Asn580Ser)
NM_001113378.1(FANCI):c.1741G>A (p.Glu581Lys) rs768875486
NM_001113378.1(FANCI):c.1743A>C (p.Glu581Asp) rs779310267
NM_001113378.1(FANCI):c.1765G>A (p.Asp589Asn)
NM_001113378.1(FANCI):c.179C>G (p.Ala60Gly) rs757018470
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.1810A>G (p.Met604Val) rs141879625
NM_001113378.1(FANCI):c.1850C>G (p.Ser617Cys) rs749295501
NM_001113378.1(FANCI):c.1856T>A (p.Leu619Gln) rs151038616
NM_001113378.1(FANCI):c.1867G>A (p.Val623Ile)
NM_001113378.1(FANCI):c.1890+3A>G rs886051510
NM_001113378.1(FANCI):c.1891-3C>T
NM_001113378.1(FANCI):c.1900T>A (p.Phe634Ile) rs140965103
NM_001113378.1(FANCI):c.1904A>G (p.Tyr635Cys) rs764435343
NM_001113378.1(FANCI):c.196C>T (p.Arg66Cys) rs143105092
NM_001113378.1(FANCI):c.1972A>T (p.Ile658Phe)
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) rs139814895
NM_001113378.1(FANCI):c.2017C>T (p.His673Tyr) rs763866498
NM_001113378.1(FANCI):c.2021G>T (p.Cys674Phe) rs886051511
NM_001113378.1(FANCI):c.2026G>T (p.Ala676Ser) rs756986642
NM_001113378.1(FANCI):c.2033A>G (p.Tyr678Cys) rs916935359
NM_001113378.1(FANCI):c.2063G>T (p.Gly688Val) rs778157971
NM_001113378.1(FANCI):c.2066_2077AGGAGGAAGAGG[1] (p.Glu693_Glu696del) rs878854176
NM_001113378.1(FANCI):c.2071G>A (p.Glu691Lys)
NM_001113378.1(FANCI):c.2098G>A (p.Glu700Lys)
NM_001113378.1(FANCI):c.2131A>T (p.Asn711Tyr) rs766073258
NM_001113378.1(FANCI):c.2169+12G>A rs886051512
NM_001113378.1(FANCI):c.217A>T (p.Ile73Phe)
NM_001113378.1(FANCI):c.2183A>G (p.Asp728Gly) rs752114490
NM_001113378.1(FANCI):c.2188T>C (p.Ser730Pro)
NM_001113378.1(FANCI):c.2203A>G (p.Ile735Val) rs377308647
NM_001113378.1(FANCI):c.2204T>C (p.Ile735Thr) rs911033971
NM_001113378.1(FANCI):c.2273T>G (p.Phe758Cys)
NM_001113378.1(FANCI):c.2278A>G (p.Ile760Val) rs780410177
NM_001113378.1(FANCI):c.2300G>T (p.Arg767Met) rs1555447886
NM_001113378.1(FANCI):c.2318G>A (p.Ser773Asn) rs1192891263
NM_001113378.1(FANCI):c.2326A>G (p.Met776Val) rs150544323
NM_001113378.1(FANCI):c.2348A>G (p.Asp783Gly) rs1363536852
NM_001113378.1(FANCI):c.236G>A (p.Gly79Glu) rs1415605220
NM_001113378.1(FANCI):c.2393A>G (p.Asn798Ser)
NM_001113378.1(FANCI):c.2434A>G (p.Ser812Gly) rs768500794
NM_001113378.1(FANCI):c.2455A>G (p.Arg819Gly)
NM_001113378.1(FANCI):c.2507A>G (p.Asn836Ser) rs933284199
NM_001113378.1(FANCI):c.2519G>A (p.Arg840His) rs777483611
NM_001113378.1(FANCI):c.2519G>T (p.Arg840Leu) rs777483611
NM_001113378.1(FANCI):c.2520C>G (p.Arg840=) rs1210098933
NM_001113378.1(FANCI):c.2533G>A (p.Val845Ile)
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) rs118031800
NM_001113378.1(FANCI):c.2614C>G (p.Gln872Glu) rs1368909419
NM_001113378.1(FANCI):c.2646A>G (p.Leu882=) rs199627578
NM_001113378.1(FANCI):c.2684C>T (p.Ser895Leu)
NM_001113378.1(FANCI):c.2768A>G (p.Tyr923Cys) rs200907824
NM_001113378.1(FANCI):c.2776A>C (p.Lys926Gln)
NM_001113378.1(FANCI):c.2781T>G (p.Ile927Met) rs771106622
NM_001113378.1(FANCI):c.2813A>G (p.Asp938Gly) rs1060501898
NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) rs79685648
NM_001113378.1(FANCI):c.2833G>C (p.Glu945Gln) rs142322239
NM_001113378.1(FANCI):c.2845G>A (p.Val949Ile)
NM_001113378.1(FANCI):c.2849G>T (p.Ser950Ile) rs760327010
NM_001113378.1(FANCI):c.284T>A (p.Leu95Gln) rs201553891
NM_001113378.1(FANCI):c.2855_2869delinsTTG (p.Thr952_Phe957delinsIleVal) rs1555448946
NM_001113378.1(FANCI):c.2856T>A (p.Thr952=) rs368915464
NM_001113378.1(FANCI):c.288+10C>T rs370505986
NM_001113378.1(FANCI):c.288+3A>G rs538283826
NM_001113378.1(FANCI):c.290C>T (p.Ala97Val) rs1555442676
NM_001113378.1(FANCI):c.292C>T (p.His98Tyr) rs886051507
NM_001113378.1(FANCI):c.2936G>T (p.Ser979Ile) rs769453869
NM_001113378.1(FANCI):c.2960C>T (p.Thr987Met) rs138432305
NM_001113378.1(FANCI):c.2992C>T (p.Pro998Ser) rs182154506
NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) rs138675752
NM_001113378.1(FANCI):c.3016A>G (p.Met1006Val)
NM_001113378.1(FANCI):c.3053G>A (p.Ser1018Asn)
NM_001113378.1(FANCI):c.3056G>A (p.Arg1019Gln)
NM_001113378.1(FANCI):c.3103C>T (p.Leu1035=) rs34462132
NM_001113378.1(FANCI):c.3186+3A>G
NM_001113378.1(FANCI):c.3220A>T (p.Ile1074Leu)
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.3255T>G (p.Cys1085Trp)
NM_001113378.1(FANCI):c.326C>G (p.Ala109Gly) rs772968604
NM_001113378.1(FANCI):c.3283G>A (p.Val1095Ile)
NM_001113378.1(FANCI):c.329A>G (p.Asn110Ser)
NM_001113378.1(FANCI):c.3310A>C (p.Thr1104Pro) rs768735814
NM_001113378.1(FANCI):c.3377C>G (p.Pro1126Arg) rs78234788
NM_001113378.1(FANCI):c.3379A>G (p.Asn1127Asp) rs878854179
NM_001113378.1(FANCI):c.3389T>A (p.Val1130Asp) rs764412863
NM_001113378.1(FANCI):c.3400A>G (p.Ile1134Val) rs377630829
NM_001113378.1(FANCI):c.3428C>T (p.Thr1143Ile) rs772071601
NM_001113378.1(FANCI):c.3435C>G (p.Phe1145Leu) rs1344945720
NM_001113378.1(FANCI):c.3457C>G (p.Leu1153Val)
NM_001113378.1(FANCI):c.3466G>C (p.Gly1156Arg)
NM_001113378.1(FANCI):c.3473G>T (p.Cys1158Phe) rs199502679
NM_001113378.1(FANCI):c.3499T>G (p.Cys1167Gly)
NM_001113378.1(FANCI):c.3505A>T (p.Met1169Leu)
NM_001113378.1(FANCI):c.3604G>C (p.Gly1202Arg)
NM_001113378.1(FANCI):c.3652-6C>G rs752433847
NM_001113378.1(FANCI):c.3665G>A (p.Ser1222Asn) rs746232111
NM_001113378.1(FANCI):c.3674A>G (p.Tyr1225Cys)
NM_001113378.1(FANCI):c.3677C>T (p.Thr1226Met)
NM_001113378.1(FANCI):c.3705C>T (p.Ala1235=) rs185771112
NM_001113378.1(FANCI):c.3706G>A (p.Val1236Ile) rs377165815
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+17_3816+19delTAT rs374324314
NM_001113378.1(FANCI):c.3832C>T (p.His1278Tyr) rs776134519
NM_001113378.1(FANCI):c.3868A>G (p.Lys1290Glu) rs374908061
NM_001113378.1(FANCI):c.3886A>G (p.Met1296Val) rs765052471
NM_001113378.1(FANCI):c.3888G>A (p.Met1296Ile) rs777500700
NM_001113378.1(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330
NM_001113378.1(FANCI):c.3900G>C (p.Glu1300Asp) rs749756525
NM_001113378.1(FANCI):c.3906_3907inv (p.Glu1303Lys)
NM_001113378.1(FANCI):c.3908A>G (p.Glu1303Gly)
NM_001113378.1(FANCI):c.3918T>G (p.Asn1306Lys)
NM_001113378.1(FANCI):c.3925-84_3925-81dup rs1444126104
NM_001113378.1(FANCI):c.3946G>A (p.Gly1316Arg) rs369058619
NM_001113378.1(FANCI):c.3947G>A (p.Gly1316Glu) rs138461165
NM_001113378.1(FANCI):c.394A>G (p.Ile132Val) rs749540937
NM_001113378.1(FANCI):c.3965C>T (p.Ala1322Val)
NM_001113378.1(FANCI):c.3977G>T (p.Arg1326Met)
NM_001113378.1(FANCI):c.406G>A (p.Ala136Thr)
NM_001113378.1(FANCI):c.445G>A (p.Gly149Ser) rs763494935
NM_001113378.1(FANCI):c.467G>A (p.Cys156Tyr) rs112387610
NM_001113378.1(FANCI):c.475C>G (p.Gln159Glu)
NM_001113378.1(FANCI):c.488C>A (p.Thr163Asn)
NM_001113378.1(FANCI):c.504-3C>T rs1457153041
NM_001113378.1(FANCI):c.539T>C (p.Met180Thr) rs139834845
NM_001113378.1(FANCI):c.546-6C>T rs754929965
NM_001113378.1(FANCI):c.550G>C (p.Val184Leu) rs571745030
NM_001113378.1(FANCI):c.557T>C (p.Leu186Pro) rs1370113722
NM_001113378.1(FANCI):c.601A>G (p.Met201Val) rs774564150
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.793C>T (p.Arg265Cys) rs753511061
NM_001113378.1(FANCI):c.824T>C (p.Ile275Thr) rs142906652
NM_001113378.1(FANCI):c.83A>G (p.Asp28Gly) rs1060501902
NM_001113378.1(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_001113378.1(FANCI):c.905A>G (p.Asn302Ser) rs575416245
NM_001113378.1(FANCI):c.919C>T (p.Pro307Ser)
NM_001113378.1(FANCI):c.92A>G (p.Asn31Ser)
NM_001113378.1(FANCI):c.956T>C (p.Ile319Thr)
NM_001114636.1(FANCL):c.791-10dupT rs374236117
NM_001130483.2(VRK2):c.41-31_41-28del rs748896681
NM_001142446.2(ANK1):c.2047A>G (p.Met683Val) rs1057518790
NM_001142864.4(PIEZO1):c.1126C>G (p.Pro376Ala) rs1474972037
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His) rs769506340
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.*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.654+5C>G rs782153322
NM_001159287.1(TPI1):c.654+6C>T rs369693539
NM_001159287.1(TPI1):c.728G>A (p.Arg243His) rs782417309
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+1318G>A rs60725885
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+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+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_001253383.3(RPL15):c.172+5G>A rs369956511
NM_001283009.1(RTEL1):c.102+5_102+6dup rs1555899112
NM_001283009.1(RTEL1):c.3701C>T (p.Pro1234Leu)
NM_001283009.1(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037
NM_001283009.1(RTEL1):c.3733C>G (p.Gln1245Glu) rs1555814729
NM_001283009.1(RTEL1):c.3832A>G (p.Met1278Val) rs1555814876
NM_001283009.1(RTEL1):c.3847C>T (p.His1283Tyr) rs1555814886
NM_001308147.2(PLEKHG3):c.*6317G>A rs1555364743
NM_001308147.2(PLEKHG3):c.*6348G>T rs1555364746
NM_001319667.1(SLC19A2):c.-196C>A rs72542444
NM_001354703.2(TF):c.-89-2036G>C rs41298275
NM_001354703.2(TF):c.-89-2088G>A rs540606355
NM_001363.5(DKC1):c.1039A>G (p.Ile347Val) rs1248744087
NM_001363.5(DKC1):c.1346G>C (p.Arg449Pro) rs1289430524
NM_001363.5(DKC1):c.1409_1411AGA[2] (p.Lys472del) rs781922569
NM_001363.5(DKC1):c.1494_1496GAA[4] (p.Lys503_Lys505del) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[9] (p.Lys504_Lys505dup) rs782576893
NM_001363.5(DKC1):c.1512G>T (p.Lys504Asn) rs1557265783
NM_001363.5(DKC1):c.1515A>C (p.Lys505Asn) rs1370393255
NM_001363.5(DKC1):c.1533G>C (p.Leu511Phe)
NM_001363.5(DKC1):c.20T>C (p.Ile7Thr) rs782343800
NM_001363.5(DKC1):c.415G>A (p.Ala139Thr) rs374799227
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu) rs782159247
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn)
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772
NM_001710.5(CFB):c.*16A>T rs749158582
NM_001710.5(CFB):c.-3G>A rs755016493
NM_001710.5(CFB):c.1037-10C>T rs201659953
NM_001710.5(CFB):c.1217G>A (p.Arg406Gln) rs1057516209
NM_001710.5(CFB):c.1227A>G (p.Leu409=) rs761050063
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.1593T>C (p.Asp531=) rs886061296
NM_001710.5(CFB):c.1861G>A (p.Glu621Lys) rs573842877
NM_001710.5(CFB):c.1889C>T (p.Ala630Val) rs886061297
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.656A>T (p.Gln219Leu) rs886061295
NM_001710.5(CFB):c.720G>A (p.Glu240=) rs753831049
NM_002049.3(GATA1):c.242T>C (p.Leu81Pro) rs1557020166
NM_002049.3(GATA1):c.419G>A (p.Arg140Gln) rs997764249
NM_002049.3(GATA1):c.479A>G (p.Asn160Ser) rs59609788
NM_002049.3(GATA1):c.480T>G (p.Asn160Lys) rs143332634
NM_002049.3(GATA1):c.529G>A (p.Gly177Arg) rs1482381233
NM_002049.3(GATA1):c.752_754delinsTT (p.Ser251fs)
NM_002049.3(GATA1):c.892C>T (p.Arg298Trp) rs1060501251
NM_002049.3(GATA1):c.94G>A (p.Val32Ile) rs782698349
NM_002389.4(CD46):c.*1099A>G rs886045842
NM_002389.4(CD46):c.*1111C>G rs193023975
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.*1888C>T rs886045846
NM_002389.4(CD46):c.*1963C>T rs886045847
NM_002389.4(CD46):c.*31A>G rs886045839
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.*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.118A>G (p.Thr40Ala) rs753924720
NM_002389.4(CD46):c.276C>T (p.Asp92=) rs148383499
NM_002389.4(CD46):c.402T>G (p.Ile134Met) rs1553250568
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_002454.3(MTRR):c.1021G>A (p.Val341Ile)
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met)
NM_002454.3(MTRR):c.1165G>A (p.Val389Met) rs774333382
NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu) rs149678769
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu) rs769915505
NM_002454.3(MTRR):c.1677-2dup
NM_002454.3(MTRR):c.208C>T (p.Arg70Cys) rs374239028
NM_002454.3(MTRR):c.209G>A (p.Arg70His) rs777202031
NM_002454.3(MTRR):c.832A>G (p.Ile278Val) rs1377146830
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)
NM_002485.4(NBN):c.1034G>T (p.Gly345Val) rs587780089
NM_002485.4(NBN):c.119C>T (p.Ser40Leu) rs587781530
NM_002485.4(NBN):c.11T>G (p.Leu4Arg) rs748090667
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.2149A>T (p.Thr717Ser) rs587780093
NM_002485.4(NBN):c.2215C>G (p.Leu739Val) rs370058152
NM_002485.4(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.4(NBN):c.361G>C (p.Asp121His) rs777916019
NM_002485.4(NBN):c.390A>G (p.Gln130=) rs146150499
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.431C>T (p.Thr144Ile) rs1554567906
NM_002485.4(NBN):c.456G>A (p.Met152Ile) rs201816949
NM_002485.4(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.4(NBN):c.505C>T (p.Arg169Cys) rs182756889
NM_002485.4(NBN):c.595C>T (p.Pro199Ser) rs587780097
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.683T>G (p.Ile228Arg) rs777460725
NM_002485.4(NBN):c.775G>A (p.Glu259Lys) rs201559159
NM_002582.4(PARN):c.1219C>G (p.His407Asp)
NM_002582.4(PARN):c.1297C>G (p.Leu433Val)
NM_002582.4(PARN):c.1351A>G (p.Thr451Ala)
NM_002582.4(PARN):c.1405+3A>G
NM_002582.4(PARN):c.1493G>A (p.Ser498Asn)
NM_002582.4(PARN):c.1501G>T (p.Ala501Ser)
NM_002582.4(PARN):c.1613G>C (p.Arg538Pro) rs377199187
NM_002582.4(PARN):c.1650T>A (p.Asn550Lys)
NM_002582.4(PARN):c.1661G>A (p.Arg554His)
NM_002582.4(PARN):c.1697A>G (p.Lys566Arg) rs1567284498
NM_002582.4(PARN):c.1785T>G (p.Asp595Glu)
NM_002582.4(PARN):c.1789T>C (p.Cys597Arg)
NM_002582.4(PARN):c.1842G>A (p.Met614Ile)
NM_002582.4(PARN):c.1843A>G (p.Lys615Glu) rs368440052
NM_002582.4(PARN):c.271T>A (p.Tyr91Asn)
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) rs201765587
NM_002582.4(PARN):c.34C>T (p.Leu12Phe)
NM_002582.4(PARN):c.407A>T (p.Gln136Leu)
NM_002582.4(PARN):c.449G>A (p.Arg150His)
NM_002582.4(PARN):c.466G>T (p.Ala156Ser)
NM_002582.4(PARN):c.702+5C>T
NM_002582.4(PARN):c.7A>G (p.Ile3Val) rs1567474981
NM_002582.4(PARN):c.853A>G (p.Ile285Val)
NM_002582.4(PARN):c.924A>C (p.Leu308Phe)
NM_002641.3(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_002693.2(POLG):c.*122G>A rs886051517
NM_002693.2(POLG):c.*49G>A rs758880377
NM_002693.2(POLG):c.*63A>G rs552236933
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.3644-9A>G rs115048121
NM_002693.2(POLG):c.3700C>G (p.Arg1234Gly) rs144346886
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln) rs202243588
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr) rs201771255
NM_003823.4(TNFRSF6B):c.*10C>T rs766685059
NM_003823.4(TNFRSF6B):c.*3C>T rs1270503048
NM_003823.4(TNFRSF6B):c.*75G>A rs1375849919
NM_003823.4(TNFRSF6B):c.*83G>A rs767909940
NM_003823.4(TNFRSF6B):c.*84T>C rs1555816562
NM_003823.4(TNFRSF6B):c.168del (p.Phe57fs) rs1305695581
NM_003823.4(TNFRSF6B):c.175C>T (p.Gln59Ter) rs747918186
NM_003823.4(TNFRSF6B):c.364C>T (p.His122Tyr) rs750153793
NM_003823.4(TNFRSF6B):c.743C>T (p.Ala248Val) rs1555816251
NM_003823.4(TNFRSF6B):c.748C>T (p.Arg250Cys) rs753653499
NM_003823.4(TNFRSF6B):c.769C>A (p.Leu257Met) rs1301451713
NM_003823.4(TNFRSF6B):c.772C>T (p.Arg258Cys) rs570762078
NM_003823.4(TNFRSF6B):c.773G>A (p.Arg258His) rs767090761
NM_003823.4(TNFRSF6B):c.785C>T (p.Thr262Met) rs766509761
NM_003823.4(TNFRSF6B):c.787G>A (p.Glu263Lys) rs781286204
NM_003823.4(TNFRSF6B):c.823C>T (p.Arg275Trp) rs756317669
NM_003823.4(TNFRSF6B):c.837G>T (p.Ala279=) rs541025487
NM_003823.4(TNFRSF6B):c.841C>T (p.Arg281Cys) rs768195916
NM_003823.4(TNFRSF6B):c.859G>A (p.Gly287Arg) rs917853575
NM_003823.4(TNFRSF6B):c.873C>T (p.Ser291=) rs555469304
NM_003823.4(TNFRSF6B):c.878G>A (p.Arg293His) rs575430880
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.-450G>C rs535301610
NM_004629.1(FANCG):c.-488G>A rs752617227
NM_004629.1(FANCG):c.-491G>A rs886063901
NM_004629.1(FANCG):c.-93C>G rs532840867
NM_004629.1(FANCG):c.107C>T (p.Thr36Ile)
NM_004629.1(FANCG):c.1126G>T (p.Asp376Tyr)
NM_004629.1(FANCG):c.1153C>G (p.Pro385Ala) rs1288516919
NM_004629.1(FANCG):c.1155_1163del (p.Ser387_Pro389del) rs1554670228
NM_004629.1(FANCG):c.1156C>G (p.Pro386Ala)
NM_004629.1(FANCG):c.1157C>G (p.Pro386Arg) rs141147618
NM_004629.1(FANCG):c.1189T>C (p.Phe397Leu) rs1060501868
NM_004629.1(FANCG):c.1252G>A (p.Glu418Lys) rs886063896
NM_004629.1(FANCG):c.1268G>A (p.Arg423His) rs757276792
NM_004629.1(FANCG):c.1298G>A (p.Arg433Gln)
NM_004629.1(FANCG):c.1367A>T (p.His456Leu)
NM_004629.1(FANCG):c.1441G>C (p.Glu481Gln) rs772460728
NM_004629.1(FANCG):c.1453C>T (p.Arg485Trp) rs201884798
NM_004629.1(FANCG):c.1454G>A (p.Arg485Gln) rs77152961
NM_004629.1(FANCG):c.1459A>C (p.Thr487Pro) rs1414696119
NM_004629.1(FANCG):c.1474G>C (p.Glu492Gln)
NM_004629.1(FANCG):c.1480+5T>G rs1554670176
NM_004629.1(FANCG):c.1510A>C (p.Lys504Gln) rs1304316655
NM_004629.1(FANCG):c.158T>G (p.Leu53Arg) rs756388446
NM_004629.1(FANCG):c.1595A>G (p.Lys532Arg)
NM_004629.1(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.1(FANCG):c.1626G>C (p.Gln542His) rs1060501867
NM_004629.1(FANCG):c.1636+5G>A rs748961871
NM_004629.1(FANCG):c.1638T>C (p.Gly546=) rs45537335
NM_004629.1(FANCG):c.1648A>G (p.Thr550Ala) rs1255677446
NM_004629.1(FANCG):c.1689G>C (p.Arg563=) rs138855718
NM_004629.1(FANCG):c.1718G>C (p.Arg573Thr) rs200466062
NM_004629.1(FANCG):c.175+4G>C rs1060501869
NM_004629.1(FANCG):c.1768C>G (p.Pro590Ala)
NM_004629.1(FANCG):c.1774T>C (p.Tyr592His) rs768325047
NM_004629.1(FANCG):c.1801C>T (p.Arg601Cys)
NM_004629.1(FANCG):c.1808C>T (p.Ser603Phe) rs17878854
NM_004629.1(FANCG):c.1814G>A (p.Arg605His)
NM_004629.1(FANCG):c.181C>T (p.Pro61Ser)
NM_004629.1(FANCG):c.1852_1853del (p.Lys618fs) rs532302967
NM_004629.1(FANCG):c.238C>T (p.Leu80=) rs115131067
NM_004629.1(FANCG):c.293G>A (p.Arg98Gln) rs372854981
NM_004629.1(FANCG):c.338G>A (p.Arg113Lys) rs778894219
NM_004629.1(FANCG):c.380G>A (p.Arg127His)
NM_004629.1(FANCG):c.421C>T (p.Arg141Cys) rs201153812
NM_004629.1(FANCG):c.458C>G (p.Ala153Gly)
NM_004629.1(FANCG):c.464G>A (p.Arg155His) rs201099560
NM_004629.1(FANCG):c.478G>A (p.Ala160Thr) rs140534765
NM_004629.1(FANCG):c.500A>G (p.Asn167Ser) rs749946550
NM_004629.1(FANCG):c.520_523delinsC (p.Ser174_Lys175delinsGln) rs1554670417
NM_004629.1(FANCG):c.54A>C (p.Glu18Asp) rs1563987701
NM_004629.1(FANCG):c.55A>G (p.Lys19Glu)
NM_004629.1(FANCG):c.580C>T (p.Pro194Ser) rs1554670412
NM_004629.1(FANCG):c.635C>T (p.Ala212Val)
NM_004629.1(FANCG):c.682G>A (p.Ala228Thr) rs765095688
NM_004629.1(FANCG):c.730G>A (p.Val244Met) rs746248064
NM_004629.1(FANCG):c.743T>C (p.Val248Ala) rs1221668009
NM_004629.1(FANCG):c.766C>T (p.His256Tyr)
NM_004629.1(FANCG):c.787C>G (p.Gln263Glu)
NM_004629.1(FANCG):c.84+53G>T rs1563987651
NM_004629.1(FANCG):c.880G>A (p.Gly294Arg) rs886063897
NM_004629.1(FANCG):c.881G>A (p.Gly294Glu) rs17880082
NM_004629.1(FANCG):c.908T>C (p.Leu303Pro) rs1563986439
NM_004629.1(FANCG):c.957G>A (p.Pro319=) rs145092954
NM_004629.1(FANCG):c.968T>C (p.Ile323Thr) rs752346718
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser)
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=)
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg)
NM_005050.4(ABCD4):c.1752+2T>C
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr)
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe)
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp)
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu)
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly)
NM_005142.3(CBLIF):c.*56T>G rs886048401
NM_005142.3(CBLIF):c.1107C>T (p.Val369=) rs537424617
NM_005142.3(CBLIF):c.1163T>C (p.Phe388Ser)
NM_005142.3(CBLIF):c.1181del (p.Pro394fs) rs1565206584
NM_005142.3(CBLIF):c.1221C>G (p.His407Gln)
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322
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.247G>A (p.Asp83Asn) rs115964827
NM_005142.3(CBLIF):c.371-15C>T rs759810252
NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr) rs760404861
NM_005142.3(CBLIF):c.432_434GAA[1] (p.Lys145del) rs770530971
NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu) rs148081315
NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg)
NM_005142.3(CBLIF):c.524T>C (p.Met175Thr) rs886048404
NM_005142.3(CBLIF):c.79+3G>A rs146396839
NM_005142.3(CBLIF):c.829G>C (p.Gly277Arg)
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_005236.2(ERCC4):c.1031A>T (p.Tyr344Phe) rs145851520
NM_005236.2(ERCC4):c.1045G>A (p.Ala349Thr)
NM_005236.2(ERCC4):c.1212A>G (p.Pro404=) rs752193295
NM_005236.2(ERCC4):c.1265A>T (p.Asp422Val) rs767408205
NM_005236.2(ERCC4):c.1284G>A (p.Ala428=) rs3136151
NM_005236.2(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412
NM_005236.2(ERCC4):c.1633G>A (p.Gly545Arg) rs773007457
NM_005236.2(ERCC4):c.1681A>T (p.Ser561Cys)
NM_005236.2(ERCC4):c.16C>T (p.Pro6Ser) rs61760160
NM_005236.2(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068
NM_005236.2(ERCC4):c.1787C>A (p.Ala596Glu)
NM_005236.2(ERCC4):c.19G>A (p.Ala7Thr)
NM_005236.2(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069
NM_005236.2(ERCC4):c.2125G>A (p.Val709Met) rs373906926
NM_005236.2(ERCC4):c.2169C>A (p.Cys723Ter)
NM_005236.2(ERCC4):c.2177G>A (p.Arg726His)
NM_005236.2(ERCC4):c.217A>G (p.Ile73Val) rs141591400
NM_005236.2(ERCC4):c.2186T>C (p.Ile729Thr)
NM_005236.2(ERCC4):c.2288C>T (p.Pro763Leu)
NM_005236.2(ERCC4):c.2295G>T (p.Lys765Asn)
NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005236.2(ERCC4):c.241G>A (p.Val81Ile) rs55761944
NM_005236.2(ERCC4):c.2423C>G (p.Ala808Gly)
NM_005236.2(ERCC4):c.257G>A (p.Arg86His)
NM_005236.2(ERCC4):c.2591G>A (p.Arg864His) rs1211543560
NM_005236.2(ERCC4):c.2603A>C (p.His868Pro)
NM_005236.2(ERCC4):c.2603A>G (p.His868Arg)
NM_005236.2(ERCC4):c.260G>A (p.Arg87His) rs371487368
NM_005236.2(ERCC4):c.2677A>G (p.Asn893Asp)
NM_005236.2(ERCC4):c.2725G>A (p.Val909Ile)
NM_005236.2(ERCC4):c.413G>A (p.Arg138Lys) rs1567243693
NM_005236.2(ERCC4):c.41C>T (p.Pro14Leu) rs754622238
NM_005236.2(ERCC4):c.503C>G (p.Ala168Gly) rs2020961
NM_005236.2(ERCC4):c.532G>T (p.Val178Leu) rs149927607
NM_005236.2(ERCC4):c.703G>A (p.Ala235Thr)
NM_005236.2(ERCC4):c.714G>A (p.Lys238=) rs780166871
NM_005236.2(ERCC4):c.790A>G (p.Lys264Glu)
NM_005236.2(ERCC4):c.798C>G (p.Ile266Met)
NM_005236.2(ERCC4):c.875G>A (p.Arg292Gln) rs202243691
NM_005236.2(ERCC4):c.889T>A (p.Tyr297Asn) rs778480216
NM_005236.2(ERCC4):c.890A>G (p.Tyr297Cys)
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His)
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu)
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His)
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=)
NM_005334.3(HCFC1):c.5391_5393GCC[1] (p.Pro1801del)
NM_005373.2(MPL):c.*1112G>A rs543515941
NM_005373.2(MPL):c.*1216A>G rs886046356
NM_005373.2(MPL):c.*1351T>C rs886046357
NM_005373.2(MPL):c.*1506G>C rs115780311
NM_005373.2(MPL):c.*657C>T rs886046352
NM_005373.2(MPL):c.*701_*705dupTTTTT rs752218261
NM_005373.2(MPL):c.*705delT rs752218261
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.*971G>A rs886046355
NM_005373.2(MPL):c.1051C>T (p.Arg351Cys) rs201998783
NM_005373.2(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.2(MPL):c.1102G>T (p.Val368Leu) rs149810307
NM_005373.2(MPL):c.1178C>T (p.Thr393Ile)
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.1460C>T (p.Thr487Ile)
NM_005373.2(MPL):c.1467C>T (p.Thr489=) rs759161511
NM_005373.2(MPL):c.1473G>C (p.Trp491Cys)
NM_005373.2(MPL):c.1565+5C>T rs41269541
NM_005373.2(MPL):c.1666G>T (p.Val556Phe) rs150004498
NM_005373.2(MPL):c.173C>T (p.Ala58Val) rs6087
NM_005373.2(MPL):c.1744_1745del (p.Leu582fs) rs770402221
NM_005373.2(MPL):c.1805T>C (p.Met602Thr)
NM_005373.2(MPL):c.196C>T (p.Leu66=) rs886046349
NM_005373.2(MPL):c.209C>T (p.Pro70Leu) rs61754776
NM_005373.2(MPL):c.212G>A (p.Arg71Gln) rs368753117
NM_005373.2(MPL):c.311T>C (p.Phe104Ser)
NM_005373.2(MPL):c.655C>G (p.Gln219Glu) rs142737453
NM_005373.2(MPL):c.754T>C (p.Tyr252His) rs141311765
NM_005373.2(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.2(MPL):c.92T>C (p.Leu31Pro) rs878854771
NM_005373.2(MPL):c.95C>T (p.Ala32Val) rs886046348
NM_005431.2(XRCC2):c.181C>A (p.Leu61Ile) rs569810249
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr) rs149099078
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871
NM_005475.2(SH2B3):c.1198G>A (p.Glu400Lys) rs72650673
NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_006363.6(SEC23B):c.*292T>G rs886056526
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.-186G>T rs138178711
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.-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+4C>T
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.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.1665+6T>C
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=) rs139882548
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)
NM_006363.6(SEC23B):c.2150del (p.Ala717fs) rs1334741748
NM_006363.6(SEC23B):c.2227C>T (p.Pro743Ser) rs375734554
NM_006363.6(SEC23B):c.301A>G (p.Ile101Val) rs754320262
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440
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_006363.6(SEC23B):c.890C>T (p.Thr297Ile)
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)
NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735
NM_006516.3(SLC2A1):c.1395C>T (p.Ser465=) rs75852730
NM_006516.3(SLC2A1):c.188C>T (p.Thr63Met) rs200828053
NM_006516.3(SLC2A1):c.192C>G (p.Leu64=) rs762583668
NM_006516.3(SLC2A1):c.75G>A (p.Gln25=) rs1557651193
NM_006563.4(KLF1):c.*254C>T rs564687827
NM_006563.4(KLF1):c.*263C>T rs867980189
NM_006563.4(KLF1):c.*311A>G rs767532783
NM_006563.4(KLF1):c.255G>A (p.Pro85=) rs886054238
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.606G>A (p.Gly202=) rs886054236
NM_006563.4(KLF1):c.690C>T (p.Ala230=) rs775669419
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.*1678C>T rs886059503
NM_006947.4(SRP72):c.*1769T>G rs886059504
NM_006947.4(SRP72):c.*227G>A rs879875987
NM_006947.4(SRP72):c.*321A>G rs886059499
NM_006947.4(SRP72):c.*606A>T rs868279024
NM_006947.4(SRP72):c.*606_*607AT[10] rs201131530
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.*839T>C rs757066668
NM_006947.4(SRP72):c.1225-6G>A rs752594366
NM_006947.4(SRP72):c.133G>A (p.Val45Ile) rs201940585
NM_006947.4(SRP72):c.20G>A (p.Gly7Glu) rs139502866
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.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.*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.*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.-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.10C>T (p.Pro4Ser) rs886045530
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.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_007294.3(BRCA1):c.1381T>C (p.Phe461Leu) rs62625300
NM_007294.3(BRCA1):c.1745C>T (p.Thr582Met) rs786202386
NM_007294.3(BRCA1):c.2050C>T (p.Pro684Ser) rs397508934
NM_007294.3(BRCA1):c.20G>A (p.Arg7His) rs144792613
NM_007294.3(BRCA1):c.2663A>C (p.His888Pro) rs876658843
NM_007294.3(BRCA1):c.3080G>C (p.Ser1027Thr) rs80357386
NM_007294.3(BRCA1):c.3104T>C (p.Val1035Ala) rs1555588389
NM_007294.3(BRCA1):c.3403C>G (p.Gln1135Glu) rs80357136
NM_007294.3(BRCA1):c.3424G>C (p.Ala1142Pro) rs80357101
NM_007294.3(BRCA1):c.3555G>T (p.Glu1185Asp) rs587779368
NM_007294.3(BRCA1):c.3649T>C (p.Ser1217Pro) rs273900712
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.4231A>G (p.Met1411Val) rs587781768
NM_007294.3(BRCA1):c.446A>C (p.Glu149Ala) rs397507233
NM_007294.3(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.3(BRCA1):c.5056C>T (p.His1686Tyr) rs1555579648
NM_007294.3(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239
NM_007294.3(BRCA1):c.527C>T (p.Thr176Met) rs587782747
NM_007294.3(BRCA1):c.5470A>G (p.Ile1824Val) rs587782026
NM_007294.3(BRCA1):c.851A>G (p.Gln284Arg) rs80357039
NM_012461.3(TINF2):c.*671G>A rs886050429
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.1025A>C (p.Glu342Ala) rs1555303978
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.*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.*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.*2216C>A rs886053746
NM_014646.2(LPIN2):c.*2390C>T rs555969171
NM_014646.2(LPIN2):c.*2412C>T rs553336397
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.*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.*2999C>A rs138807947
NM_014646.2(LPIN2):c.*3015T>C rs14916
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.*448C>T rs886053759
NM_014646.2(LPIN2):c.*493G>A rs886053758
NM_014646.2(LPIN2):c.*506C>T rs886053757
NM_014646.2(LPIN2):c.*507T>C rs886053756
NM_014646.2(LPIN2):c.*666C>T rs186189096
NM_014646.2(LPIN2):c.*703dupG rs200435334
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.*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.-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.-66C>T rs116643915
NM_014646.2(LPIN2):c.106G>A (p.Val36Ile)
NM_014646.2(LPIN2):c.1082C>T (p.Ala361Val)
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.1133C>T (p.Pro378Leu)
NM_014646.2(LPIN2):c.1151C>T (p.Ser384Leu)
NM_014646.2(LPIN2):c.1154C>T (p.Pro385Leu) rs754221410
NM_014646.2(LPIN2):c.1168+4A>G
NM_014646.2(LPIN2):c.1168+6C>T rs200130790
NM_014646.2(LPIN2):c.1169-3C>T rs200259086
NM_014646.2(LPIN2):c.1169-7delT rs746626720
NM_014646.2(LPIN2):c.1171G>A (p.Val391Ile) rs886053767
NM_014646.2(LPIN2):c.1203T>G (p.Asp401Glu) rs1018736752
NM_014646.2(LPIN2):c.1247C>T (p.Ala416Val) rs777239535
NM_014646.2(LPIN2):c.1282G>A (p.Gly428Ser) rs768189312
NM_014646.2(LPIN2):c.1312C>T (p.Leu438Phe) rs138079183
NM_014646.2(LPIN2):c.1315T>C (p.Ser439Pro) rs1555673672
NM_014646.2(LPIN2):c.1339G>A (p.Val447Met) rs373758040
NM_014646.2(LPIN2):c.1348G>A (p.Ala450Thr) rs771486222
NM_014646.2(LPIN2):c.1367C>T (p.Thr456Ile)
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.1510C>T (p.Leu504Phe) rs104895500
NM_014646.2(LPIN2):c.1514T>C (p.Ile505Thr) rs146424724
NM_014646.2(LPIN2):c.1522C>T (p.Pro508Ser)
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.1938+4A>G rs1397526157
NM_014646.2(LPIN2):c.1939-2delA rs745529823
NM_014646.2(LPIN2):c.1939-5A>G rs779830291
NM_014646.2(LPIN2):c.200T>C (p.Ile67Thr)
NM_014646.2(LPIN2):c.206T>C (p.Ile69Thr) rs1555677681
NM_014646.2(LPIN2):c.2088G>A (p.Lys696=) rs778440902
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.2224G>A (p.Asp742Asn) rs779538504
NM_014646.2(LPIN2):c.2237G>A (p.Gly746Asp) rs1555672260
NM_014646.2(LPIN2):c.2409G>C (p.Gln803His) rs876660987
NM_014646.2(LPIN2):c.2420C>T (p.Ala807Val)
NM_014646.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737
NM_014646.2(LPIN2):c.2547-1G>A rs145858312
NM_014646.2(LPIN2):c.2569G>T (p.Val857Leu) rs1346809433
NM_014646.2(LPIN2):c.2617C>A (p.Pro873Thr)
NM_014646.2(LPIN2):c.2621G>A (p.Cys874Tyr) rs201160155
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.2650C>T (p.Arg884Ter) rs547662448
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.374C>G (p.Ser125Trp)
NM_014646.2(LPIN2):c.377G>A (p.Gly126Asp)
NM_014646.2(LPIN2):c.388A>G (p.Thr130Ala) rs191101701
NM_014646.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538
NM_014646.2(LPIN2):c.517G>A (p.Ala173Thr) rs140609636
NM_014646.2(LPIN2):c.523G>C (p.Ala175Pro) rs1334969199
NM_014646.2(LPIN2):c.584C>G (p.Ala195Gly) rs1226336598
NM_014646.2(LPIN2):c.584C>T (p.Ala195Val) rs1226336598
NM_014646.2(LPIN2):c.590+6A>G rs73375280
NM_014646.2(LPIN2):c.698C>T (p.Thr233Ile)
NM_014646.2(LPIN2):c.71A>G (p.Gln24Arg) rs1568575278
NM_014646.2(LPIN2):c.755C>T (p.Ala252Val)
NM_014646.2(LPIN2):c.802G>A (p.Gly268Arg)
NM_014646.2(LPIN2):c.907A>C (p.Ser303Arg)
NM_014646.2(LPIN2):c.932T>A (p.Val311Asp) rs886053768
NM_014646.2(LPIN2):c.970A>T (p.Ile324Leu) rs1476358117
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.*5C>G rs557994288
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.277-8_277-3dup rs756072947
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del) rs1553162848
NM_015506.3(MMACHC):c.392_394del (p.Gln131del) rs779234540
NM_015506.3(MMACHC):c.395_397del (p.Arg132del) rs1455190457
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) rs886046368
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn)
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del) rs747550590
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr) rs1161394470
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)
NM_015506.3(MMACHC):c.491_493TGC[2] (p.Leu166del) rs1249948465
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del) rs1553162937
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.728del (p.Pro243fs) rs1409915649
NM_015506.3(MMACHC):c.745dup (p.Asp249fs) rs1553162993
NM_015506.3(MMACHC):c.771dup (p.Lys258fs) rs763886783
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
NM_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?) rs1553163021
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?) rs1553163024
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp) rs769732556
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?) rs1553163027
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys)
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) rs1555876854
NM_015937.6(PIGT):c.634C>T (p.His212Tyr) rs574183358
NM_015937.6(PIGT):c.949A>G (p.Ile317Val) rs773624614
NM_016038.4(SBDS):c.131A>G (p.Glu44Gly) rs1554341516
NM_016038.4(SBDS)