ClinVar Miner

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

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3467
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_000096.4(CP):c.1037-3C>A
NM_000096.4(CP):c.1100G>T (p.Arg367Leu)
NM_000096.4(CP):c.1217C>A (p.Ala406Glu) rs147034302
NM_000096.4(CP):c.1265A>G (p.Lys422Arg)
NM_000096.4(CP):c.1313A>G (p.Glu438Gly) rs1553761979
NM_000096.4(CP):c.1414C>A (p.Pro472Thr)
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.2446G>A (p.Val816Ile)
NM_000096.4(CP):c.2681T>C (p.Ile894Thr)
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) rs187293972
NM_000096.4(CP):c.389A>G (p.His130Arg)
NM_000096.4(CP):c.407C>T (p.Pro136Leu)
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693
NM_000096.4(CP):c.788A>G (p.Asn263Ser) rs150303869
NM_000096.4(CP):c.938C>T (p.Thr313Ile) rs144401501
NM_000135.3(FANCA):c.2015-8del rs1567619964
NM_000135.4(FANCA):c.1010C>G (p.Ser337Cys)
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.1244T>C (p.Met415Thr)
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.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.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.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.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.157A>C (p.Ser53Arg) rs61757383
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.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.4(FANCA):c.1691T>C (p.Ile564Thr)
NM_000135.4(FANCA):c.1750C>G (p.Leu584Val)
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769
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.1899A>C (p.Glu633Asp) rs768520283
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479
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.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.2210C>T (p.Ala737Val) rs199938598
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp) rs763187355
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.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.2505A>G (p.Lys835=) rs1555546563
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr)
NM_000135.4(FANCA):c.2528A>G (p.Tyr843Cys) rs1567616244
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.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.2706C>G (p.Asp902Glu) rs587778315
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr)
NM_000135.4(FANCA):c.2785T>C (p.Tyr929His) rs1567612427
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.2851C>A (p.Arg951=)
NM_000135.4(FANCA):c.2856G>C (p.Gln952His) rs200093209
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.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.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.3099C>A (p.Asp1033Glu) rs139289675
NM_000135.4(FANCA):c.3115G>A (p.Gly1039Ser)
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.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.3288G>C (p.Gln1096His)
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His) rs779268656
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro)
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His) rs768851109
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.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.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.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.3703C>G (p.Gln1235Glu) rs769919783
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln) rs150719428
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.3778_3783del (p.Leu1260_Phe1261del) rs1157717956
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) rs139160837
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val)
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.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.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.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.4084T>G (p.Leu1362Val) rs775351812
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=) rs1060501882
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.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.4291G>C (p.Glu1431Gln) rs1567591125
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783
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.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.596+5C>T
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.691G>A (p.Ala231Thr) rs746814384
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.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.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.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.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_000136.2(FANCC):c.1329+5delG rs878853670
NM_000136.2(FANCC):c.457-10delT rs763416214
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.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.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.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.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.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.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>C (p.Gly68Arg) rs777111154
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.395C>G (p.Ala132Gly) rs587779905
NM_000136.3(FANCC):c.397C>T (p.Leu133Phe) rs587779906
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.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.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.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.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.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.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.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.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.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.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.1054G>A (p.Ala352Thr)
NM_000178.4(GSS):c.631C>G (p.Gln211Glu)
NM_000178.4(GSS):c.73C>G (p.Arg25Gly) rs930264754
NM_000194.3(HPRT1):c.648del (p.Lys215_Tyr216insTer)
NM_000194.3(HPRT1):c.653C>G (p.Ala218Gly)
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.1005A>G (p.Val335=) rs1454843075
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly)
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser)
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser)
NM_000355.4(TCN2):c.1052C>T (p.Ala351Val)
NM_000355.4(TCN2):c.109C>T (p.His37Tyr)
NM_000355.4(TCN2):c.1109A>G (p.Tyr370Cys)
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly) rs148963479
NM_000355.4(TCN2):c.1246G>A (p.Asp416Asn)
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.299C>T (p.Pro100Leu)
NM_000355.4(TCN2):c.323A>T (p.Tyr108Phe)
NM_000355.4(TCN2):c.362G>A (p.Gly121Asp)
NM_000355.4(TCN2):c.409G>A (p.Asp137Asn) rs775586639
NM_000355.4(TCN2):c.566G>A (p.Gly189Asp)
NM_000355.4(TCN2):c.572A>G (p.His191Arg)
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.843A>T (p.Gly281=)
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.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.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.829G>C (p.Val277Leu) rs1569539465
NM_000969.5(RPL5):c.170A>G (p.Asn57Ser) rs1553285028
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr)
NM_000969.5(RPL5):c.269T>C (p.Val90Ala)
NM_000969.5(RPL5):c.613G>A (p.Ala205Thr)
NM_000969.5(RPL5):c.700G>T (p.Asp234Tyr) rs938367538
NM_000969.5(RPL5):c.803G>A (p.Arg268His)
NM_000969.5(RPL5):c.868G>A (p.Ala290Thr) rs1060503545
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.271A>G (p.Asn91Asp) rs1560123334
NM_000996.4(RPL35A):c.309+4A>T rs1270507770
NM_001011.4(RPS7):c.274_276GTC[1] (p.Val93del) rs1553342919
NM_001011.4(RPS7):c.433C>T (p.Arg145Cys)
NM_001011.4(RPS7):c.518T>C (p.Phe173Ser) rs1558474062
NM_001014.5(RPS10):c.222G>A (p.Glu74=)
NM_001014.5(RPS10):c.261G>A (p.Pro87=) rs781484971
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_001022.4(RPS19):c.164C>T (p.Thr55Met) rs147508369
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.312G>A (p.Ala104=)
NM_001081.3(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638
NM_001081.3(CUBN):c.10612G>A (p.Glu3538Lys)
NM_001081.3(CUBN):c.1558C>T (p.Arg520Trp) rs564637804
NM_001081.3(CUBN):c.1999A>G (p.Thr667Ala)
NM_001081.3(CUBN):c.2306G>A (p.Arg769Gln)
NM_001081.3(CUBN):c.2810C>G (p.Thr937Arg)
NM_001081.3(CUBN):c.2822G>A (p.Gly941Glu)
NM_001081.3(CUBN):c.2929T>C (p.Phe977Leu)
NM_001081.3(CUBN):c.322A>G (p.Ser108Gly) rs1564526263
NM_001081.3(CUBN):c.3391A>G (p.Thr1131Ala)
NM_001081.3(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.3(CUBN):c.3646C>G (p.Pro1216Ala)
NM_001081.3(CUBN):c.3823C>T (p.Arg1275Trp)
NM_001081.3(CUBN):c.3896C>G (p.Pro1299Arg) rs752570169
NM_001081.3(CUBN):c.3932G>A (p.Arg1311Gln)
NM_001081.3(CUBN):c.4167C>T (p.Tyr1389=) rs150510291
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.536G>T (p.Gly179Val)
NM_001081.3(CUBN):c.5459A>G (p.Tyr1820Cys)
NM_001081.3(CUBN):c.5470G>A (p.Val1824Ile)
NM_001081.3(CUBN):c.5580T>A (p.His1860Gln) rs980358703
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.6020C>T (p.Thr2007Met)
NM_001081.3(CUBN):c.6125-2A>G rs75386064
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.6728C>T (p.Pro2243Leu)
NM_001081.3(CUBN):c.6833A>G (p.Asn2278Ser)
NM_001081.3(CUBN):c.6847C>T (p.Arg2283Trp)
NM_001081.3(CUBN):c.7007G>A (p.Cys2336Tyr)
NM_001081.3(CUBN):c.704G>C (p.Arg235Pro)
NM_001081.3(CUBN):c.7331G>A (p.Arg2444Gln)
NM_001081.3(CUBN):c.7390A>C (p.Thr2464Pro)
NM_001081.3(CUBN):c.7403A>G (p.Tyr2468Cys)
NM_001081.3(CUBN):c.8071G>A (p.Gly2691Arg)
NM_001081.3(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222
NM_001081.3(CUBN):c.8278A>G (p.Ile2760Val)
NM_001081.3(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312
NM_001081.3(CUBN):c.8578T>G (p.Cys2860Gly)
NM_001081.3(CUBN):c.8680C>G (p.Pro2894Ala)
NM_001081.3(CUBN):c.8711C>T (p.Ser2904Phe)
NM_001081.3(CUBN):c.8943C>T (p.Gly2981=) rs767131065
NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299
NM_001081.3(CUBN):c.9166G>A (p.Ala3056Thr)
NM_001081.3(CUBN):c.9555T>G (p.Cys3185Trp)
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.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.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.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.1028_1030TCC[1] (p.Leu344del)
NM_001113378.1(FANCI):c.1102G>A (p.Val368Met) rs1060501897
NM_001113378.1(FANCI):c.1112+3A>G rs367970067
NM_001113378.1(FANCI):c.1250A>G (p.His417Arg)
NM_001113378.1(FANCI):c.1264G>A (p.Gly422Arg) rs146040966
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.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.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.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.1891-3C>T
NM_001113378.1(FANCI):c.1904A>G (p.Tyr635Cys) rs764435343
NM_001113378.1(FANCI):c.1972A>T (p.Ile658Phe)
NM_001113378.1(FANCI):c.2017C>T (p.His673Tyr) rs763866498
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.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>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.2614C>G (p.Gln872Glu) rs1368909419
NM_001113378.1(FANCI):c.2684C>T (p.Ser895Leu)
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.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.288+3A>G rs538283826
NM_001113378.1(FANCI):c.290C>T (p.Ala97Val) rs1555442676
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.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.3186+3A>G
NM_001113378.1(FANCI):c.3220A>T (p.Ile1074Leu)
NM_001113378.1(FANCI):c.3241G>A (p.Ala1081Thr) rs375746069
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.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.3706G>A (p.Val1236Ile) rs377165815
NM_001113378.1(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734
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.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.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.550G>C (p.Val184Leu) rs571745030
NM_001113378.1(FANCI):c.601A>G (p.Met201Val) rs774564150
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.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_001283009.1(RTEL1):c.3701C>T (p.Pro1234Leu)
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_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_002454.3(MTRR):c.1021G>A (p.Val341Ile)
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met)
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_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_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.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.1626G>C (p.Gln542His) rs1060501867
NM_004629.1(FANCG):c.1636+5G>A rs748961871
NM_004629.1(FANCG):c.1648A>G (p.Thr550Ala) rs1255677446
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.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.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.881G>A (p.Gly294Glu) rs17880082
NM_004629.1(FANCG):c.908T>C (p.Leu303Pro) rs1563986439
NM_004629.1(FANCG):c.968T>C (p.Ile323Thr) rs752346718
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser)
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.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.432_434GAA[1] (p.Lys145del) rs770530971
NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg)
NM_005142.3(CBLIF):c.829G>C (p.Gly277Arg)
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.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.4815G>A (p.Thr1605=)
NM_005334.3(HCFC1):c.5391_5393GCC[1] (p.Pro1801del)
NM_005373.2(MPL):c.1178C>T (p.Thr393Ile)
NM_005373.2(MPL):c.1460C>T (p.Thr487Ile)
NM_005373.2(MPL):c.1473G>C (p.Trp491Cys)
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.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.844G>A (p.Gly282Arg) rs878854770
NM_005373.2(MPL):c.92T>C (p.Leu31Pro) rs878854771
NM_006363.6(SEC23B):c.1233+4C>T
NM_006363.6(SEC23B):c.1665+6T>C
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile)
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)
NM_012461.3(TINF2):c.1025A>C (p.Glu342Ala) rs1555303978
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.1203T>G (p.Asp401Glu) rs1018736752
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.1367C>T (p.Thr456Ile)
NM_014646.2(LPIN2):c.1514T>C (p.Ile505Thr) rs146424724
NM_014646.2(LPIN2):c.1522C>T (p.Pro508Ser)
NM_014646.2(LPIN2):c.1796C>T (p.Pro599Leu) rs372850864
NM_014646.2(LPIN2):c.1938+4A>G rs1397526157
NM_014646.2(LPIN2):c.1939-5A>G rs779830291
NM_014646.2(LPIN2):c.200T>C (p.Ile67Thr)
NM_014646.2(LPIN2):c.2088G>A (p.Lys696=) rs778440902
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.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.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.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.970A>T (p.Ile324Leu) rs1476358117
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.316G>A (p.Glu106Lys) rs201617713
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn)
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr) rs1161394470
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732
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_016434.3(RTEL1):c.1107G>A (p.Leu369=)
NM_016434.3(RTEL1):c.1178C>T (p.Ala393Val) rs200555432
NM_016434.3(RTEL1):c.1183A>G (p.Ile395Val) rs1355147182
NM_016434.3(RTEL1):c.1189C>G (p.Gln397Glu)
NM_016434.3(RTEL1):c.1301C>T (p.Thr434Met)
NM_016434.3(RTEL1):c.1477C>G (p.Gln493Glu) rs372871657
NM_016434.3(RTEL1):c.1482-9C>A
NM_016434.3(RTEL1):c.1583C>A (p.Ala528Glu) rs760398738
NM_016434.3(RTEL1):c.1596-8G>A rs374702981
NM_016434.3(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645
NM_016434.3(RTEL1):c.1670T>C (p.Leu557Pro)
NM_016434.3(RTEL1):c.1675T>A (p.Phe559Ile) rs747497376
NM_016434.3(RTEL1):c.1720C>T (p.Arg574Trp)
NM_016434.3(RTEL1):c.1728C>T (p.Arg576=)
NM_016434.3(RTEL1):c.1742A>G (p.Lys581Arg)
NM_016434.3(RTEL1):c.1800+4G>C
NM_016434.3(RTEL1):c.1940C>T (p.Pro647Leu) rs1177091623
NM_016434.3(RTEL1):c.1951C>T (p.Arg651Cys)
NM_016434.3(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_016434.3(RTEL1):c.1963C>T (p.Arg655Trp)
NM_016434.3(RTEL1):c.2023C>A (p.Gln675Lys)
NM_016434.3(RTEL1):c.2063C>G (p.Ser688Cys) rs773265745
NM_016434.3(RTEL1):c.2105G>A (p.Arg702His) rs1035926074
NM_016434.3(RTEL1):c.2155G>A (p.Asp719Asn) rs781231332
NM_016434.3(RTEL1):c.2261G>A (p.Arg754Gln)
NM_016434.3(RTEL1):c.2274_2275delinsAG (p.Pro759Ala)
NM_016434.3(RTEL1):c.2306G>A (p.Arg769His)
NM_016434.3(RTEL1):c.2414-10G>A
NM_016434.3(RTEL1):c.2434C>A (p.Pro812Thr)
NM_016434.3(RTEL1):c.245C>T (p.Pro82Leu) rs143461704
NM_016434.3(RTEL1):c.2507C>G (p.Ala836Gly) rs761063091
NM_016434.3(RTEL1):c.250C>T (p.Arg84Trp) rs373874416
NM_016434.3(RTEL1):c.2530C>T (p.Arg844Trp)
NM_016434.3(RTEL1):c.2544_2545inv (p.Gly849Ser)
NM_016434.3(RTEL1):c.2547C>T (p.Gly849=) rs371353556
NM_016434.3(RTEL1):c.2568C>G (p.Cys856Trp)
NM_016434.3(RTEL1):c.2600C>T (p.Pro867Leu) rs139083375
NM_016434.3(RTEL1):c.2612C>T (p.Pro871Leu) rs144002969
NM_016434.3(RTEL1):c.2624G>A (p.Arg875Lys)
NM_016434.3(RTEL1):c.2636G>T (p.Arg879Leu)
NM_016434.3(RTEL1):c.2638C>G (p.Leu880Val) rs376204071
NM_016434.3(RTEL1):c.2652+4C>T rs374540895
NM_016434.3(RTEL1):c.2652+5G>A rs1555812507
NM_016434.3(RTEL1):c.2660C>T (p.Pro887Leu) rs1568717000
NM_016434.3(RTEL1):c.2662G>A (p.Val888Met)
NM_016434.3(RTEL1):c.2707G>A (p.Val903Met)
NM_016434.3(RTEL1):c.2761G>C (p.Asp921His)
NM_016434.3(RTEL1):c.2776G>A (p.Asp926Asn)
NM_016434.3(RTEL1):c.2782T>G (p.Phe928Val)
NM_016434.3(RTEL1):c.2788G>A (p.Ala930Thr)
NM_016434.3(RTEL1):c.2801G>A (p.Cys934Tyr) rs1263651818
NM_016434.3(RTEL1):c.280G>A (p.Ala94Thr) rs371690600
NM_016434.3(RTEL1):c.2842C>G (p.Leu948Val) rs750311914
NM_016434.3(RTEL1):c.2851+4C>T
NM_016434.3(RTEL1):c.2854T>C (p.Phe952Leu)
NM_016434.3(RTEL1):c.2877C>A (p.His959Gln) rs373996455
NM_016434.3(RTEL1):c.2899G>C (p.Val967Leu)
NM_016434.3(RTEL1):c.2915C>T (p.Thr972Ile)
NM_016434.3(RTEL1):c.2921G>A (p.Arg974Gln)
NM_016434.3(RTEL1):c.2981T>C (p.Leu994Pro)
NM_016434.3(RTEL1):c.3026C>T (p.Ser1009Phe)
NM_016434.3(RTEL1):c.3063C>A (p.His1021Gln)
NM_016434.3(RTEL1):c.3089C>T (p.Ser1030Leu)
NM_016434.3(RTEL1):c.3107C>G (p.Thr1036Arg)
NM_016434.3(RTEL1):c.312G>A (p.Thr104=) rs1348086708
NM_016434.3(RTEL1):c.3137G>A (p.Gly1046Glu)
NM_016434.3(RTEL1):c.3157G>C (p.Gly1053Arg)
NM_016434.3(RTEL1):c.3178G>A (p.Val1060Met)
NM_016434.3(RTEL1):c.3251C>T (p.Thr1084Ile) rs142457144
NM_016434.3(RTEL1):c.3311C>T (p.Thr1104Ile)
NM_016434.3(RTEL1):c.3344-6C>G rs1455821579
NM_016434.3(RTEL1):c.3362G>A (p.Arg1121His) rs765060195
NM_016434.3(RTEL1):c.3376C>G (p.Gln1126Glu) rs778734749
NM_016434.3(RTEL1):c.3380G>A (p.Arg1127His)
NM_016434.3(RTEL1):c.3392C>T (p.Thr1131Met)
NM_016434.3(RTEL1):c.3412C>T (p.Arg1138Trp)
NM_016434.3(RTEL1):c.3422C>T (p.Pro1141Leu)
NM_016434.3(RTEL1):c.3463G>A (p.Val1155Met)
NM_016434.3(RTEL1):c.3467C>T (p.Pro1156Leu)
NM_016434.3(RTEL1):c.3499+7C>T
NM_016434.3(RTEL1):c.3505T>C (p.Ser1169Pro)
NM_016434.3(RTEL1):c.3528G>C (p.Lys1176Asn)
NM_016434.3(RTEL1):c.3589G>A (p.Gly1197Ser)
NM_016434.3(RTEL1):c.3590G>C (p.Gly1197Ala)
NM_016434.3(RTEL1):c.3592G>A (p.Glu1198Lys)
NM_016434.3(RTEL1):c.3629A>G (p.His1210Arg)
NM_016434.3(RTEL1):c.370A>G (p.Asn124Asp) rs1569080038
NM_016434.3(RTEL1):c.454A>G (p.Lys152Glu)
NM_016434.3(RTEL1):c.500T>G (p.Val167Gly)
NM_016434.3(RTEL1):c.538+3A>G
NM_016434.3(RTEL1):c.580A>G (p.Ile194Val) rs963605629
NM_016434.3(RTEL1):c.595A>G (p.Lys199Glu)
NM_016434.3(RTEL1):c.600C>A (p.Ser200Arg)
NM_016434.3(RTEL1):c.640A>T (p.Asn214Tyr)
NM_016434.3(RTEL1):c.860C>T (p.Thr287Ile)
NM_016434.3(RTEL1):c.898A>T (p.Ser300Cys)
NM_016434.3(RTEL1):c.8A>C (p.Lys3Thr)
NM_016434.3(RTEL1):c.940G>A (p.Asp314Asn) rs758615955
NM_016434.3(RTEL1):c.958+3A>G
NM_016434.3(RTEL1):c.971G>A (p.Arg324His) rs113684274
NM_017838.3(NHP2):c.109C>T (p.Pro37Ser) rs201390429
NM_017838.3(NHP2):c.143A>G (p.Tyr48Cys)
NM_017838.3(NHP2):c.160+4A>C rs1419452406
NM_017838.3(NHP2):c.190G>A (p.Val64Met) rs79031130
NM_017838.3(NHP2):c.195_196AG[1] (p.Glu66fs) rs1333837047
NM_017838.3(NHP2):c.19G>C (p.Asp7His)
NM_017838.3(NHP2):c.230+4dup
NM_017838.3(NHP2):c.233T>A (p.Ile78Asn)
NM_017838.3(NHP2):c.237G>A (p.Met79Ile) rs1561644268
NM_017838.3(NHP2):c.267_270del (p.Glu89fs)
NM_017838.3(NHP2):c.289A>G (p.Met97Val)
NM_017838.3(NHP2):c.290T>C (p.Met97Thr)
NM_017838.3(NHP2):c.67A>G (p.Thr23Ala)
NM_018062.3(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294
NM_018062.3(FANCL):c.1052G>A (p.Ser351Asn)
NM_018062.3(FANCL):c.1067T>G (p.Phe356Cys) rs773869051
NM_018062.3(FANCL):c.1088G>A (p.Ser363Asn)
NM_018062.3(FANCL):c.134A>T (p.Asp45Val)
NM_018062.3(FANCL):c.142C>G (p.Leu48Val) rs148516173
NM_018062.3(FANCL):c.182C>G (p.Thr61Arg) rs1315405264
NM_018062.3(FANCL):c.238C>G (p.Leu80Val) rs563513081
NM_018062.3(FANCL):c.246C>G (p.Ser82Arg)
NM_018062.3(FANCL):c.288G>T (p.Lys96Asn) rs770368316
NM_018062.3(FANCL):c.2T>C (p.Met1Thr)
NM_018062.3(FANCL):c.319C>G (p.Pro107Ala) rs754028115
NM_018062.3(FANCL):c.332A>G (p.Tyr111Cys) rs757683704
NM_018062.3(FANCL):c.335C>T (p.Ser112Leu)
NM_018062.3(FANCL):c.343A>G (p.Ile115Val) rs149414332
NM_018062.3(FANCL):c.344T>C (p.Ile115Thr) rs1060501895
NM_018062.3(FANCL):c.355G>A (p.Gly119Arg)
NM_018062.3(FANCL):c.394T>C (p.Cys132Arg)
NM_018062.3(FANCL):c.4G>T (p.Ala2Ser) rs144057264
NM_018062.3(FANCL):c.622G>A (p.Asp208Asn) rs199564543
NM_018062.3(FANCL):c.692G>A (p.Gly231Asp) rs1558737546
NM_018062.3(FANCL):c.706A>G (p.Ile236Val) rs762904548
NM_018062.3(FANCL):c.846A>T (p.Gln282His) rs535158133
NM_018062.3(FANCL):c.863T>C (p.Leu288Ser)
NM_018062.3(FANCL):c.881C>T (p.Ala294Val)
NM_018062.3(FANCL):c.884G>A (p.Arg295His) rs375526911
NM_018062.3(FANCL):c.904-9_904-7delCTT rs757041554
NM_018062.3(FANCL):c.949G>A (p.Gly317Ser) rs1060501896
NM_018062.3(FANCL):c.967G>T (p.Val323Leu) rs763057392
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser)
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met) rs771561971
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg)
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe)
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr)
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu) rs771226867
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His)
NM_018648.3(NOP10):c.179C>T (p.Pro60Leu) rs765367178
NM_018648.3(NOP10):c.27G>T (p.Glu9Asp)
NM_020937.4(FANCM):c.1009G>C (p.Ala337Pro) rs1210888568
NM_020937.4(FANCM):c.1131G>A (p.Met377Ile)
NM_020937.4(FANCM):c.1133G>A (p.Gly378Glu) rs1060501894
NM_020937.4(FANCM):c.1142C>A (p.Ser381Ter)
NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp) rs752364451
NM_020937.4(FANCM):c.1193G>A (p.Arg398Gln)
NM_020937.4(FANCM):c.1196C>G (p.Ser399Ter) rs1166587869
NM_020937.4(FANCM):c.11G>A (p.Arg4Gln)
NM_020937.4(FANCM):c.1222G>C (p.Asp408His) rs199929558
NM_020937.4(FANCM):c.122C>T (p.Pro41Leu)
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His)
NM_020937.4(FANCM):c.1271G>A (p.Arg424His)
NM_020937.4(FANCM):c.1301T>C (p.Ile434Thr) rs763653491
NM_020937.4(FANCM):c.1316A>C (p.Lys439Thr)
NM_020937.4(FANCM):c.1366G>A (p.Val456Ile)
NM_020937.4(FANCM):c.1395T>G (p.Asn465Lys)
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys)
NM_020937.4(FANCM):c.1423G>A (p.Asp475Asn) rs1060501892
NM_020937.4(FANCM):c.1440G>C (p.Met480Ile)
NM_020937.4(FANCM):c.1509T>G (p.Ile503Met)
NM_020937.4(FANCM):c.1518G>A (p.Met506Ile)
NM_020937.4(FANCM):c.1565A>G (p.Gln522Arg)
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747
NM_020937.4(FANCM):c.1591C>T (p.Gln531Ter) rs1447482674
NM_020937.4(FANCM):c.1597C>T (p.Arg533Cys)
NM_020937.4(FANCM):c.163G>A (p.Asp55Asn)
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly) rs148810507
NM_020937.4(FANCM):c.1706G>A (p.Arg569His) rs754308821
NM_020937.4(FANCM):c.172C>T (p.Leu58Phe) rs1555358404
NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys) rs202171930
NM_020937.4(FANCM):c.1786C>T (p.Arg596Cys)
NM_020937.4(FANCM):c.1798C>T (p.Gln600Ter)
NM_020937.4(FANCM):c.179C>A (p.Ala60Glu) rs200717151
NM_020937.4(FANCM):c.1849C>G (p.Gln617Glu)
NM_020937.4(FANCM):c.1880G>C (p.Arg627Pro) rs777379515
NM_020937.4(FANCM):c.1892A>G (p.Asp631Gly)
NM_020937.4(FANCM):c.1924A>G (p.Ile642Val) rs1555363268
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) rs368728266
NM_020937.4(FANCM):c.1973G>A (p.Arg658Gln)
NM_020937.4(FANCM):c.1996A>G (p.Arg666Gly) rs78437454
NM_020937.4(FANCM):c.2017A>C (p.Ser673Arg)
NM_020937.4(FANCM):c.2096A>G (p.Glu699Gly)
NM_020937.4(FANCM):c.2158C>T (p.Pro720Ser) rs751262177
NM_020937.4(FANCM):c.2173A>G (p.Thr725Ala) rs146325649
NM_020937.4(FANCM):c.220G>A (p.Gly74Arg)
NM_020937.4(FANCM):c.2234C>G (p.Pro745Arg)
NM_020937.4(FANCM):c.2240A>G (p.His747Arg) rs181827583
NM_020937.4(FANCM):c.2258A>G (p.Asp753Gly) rs756438082
NM_020937.4(FANCM):c.2266C>T (p.Arg756Cys)
NM_020937.4(FANCM):c.2284A>G (p.Met762Val)
NM_020937.4(FANCM):c.2297A>G (p.Glu766Gly)
NM_020937.4(FANCM):c.2302A>G (p.Met768Val)
NM_020937.4(FANCM):c.2339A>C (p.Glu780Ala) rs149856496
NM_020937.4(FANCM):c.2389C>G (p.Pro797Ala) rs144771929
NM_020937.4(FANCM):c.2452A>G (p.Ile818Val) rs199948045
NM_020937.4(FANCM):c.2458A>G (p.Asn820Asp)
NM_020937.4(FANCM):c.2473A>C (p.Ser825Arg)
NM_020937.4(FANCM):c.2497G>A (p.Asp833Asn) rs752560995
NM_020937.4(FANCM):c.2517T>G (p.Ile839Met) rs61744648
NM_020937.4(FANCM):c.254A>G (p.Tyr85Cys) rs1555358445
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.2608A>G (p.Asn870Asp)
NM_020937.4(FANCM):c.2624T>C (p.Ile875Thr)
NM_020937.4(FANCM):c.2653A>G (p.Thr885Ala)
NM_020937.4(FANCM):c.2699C>T (p.Thr900Ile) rs1555364640
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu) rs142904668
NM_020937.4(FANCM):c.2723C>T (p.Ala908Val)
NM_020937.4(FANCM):c.2758C>T (p.Pro920Ser) rs750238406
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe)
NM_020937.4(FANCM):c.2834G>A (p.Gly945Asp) rs1193165722
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437
NM_020937.4(FANCM):c.2861C>G (p.Ser954Cys)
NM_020937.4(FANCM):c.2881C>T (p.Leu961Phe)
NM_020937.4(FANCM):c.2896G>C (p.Glu966Gln)
NM_020937.4(FANCM):c.2903A>G (p.Tyr968Cys)
NM_020937.4(FANCM):c.2968G>A (p.Val990Ile)
NM_020937.4(FANCM):c.2996C>T (p.Pro999Leu)
NM_020937.4(FANCM):c.3004A>G (p.Ser1002Gly)
NM_020937.4(FANCM):c.3083A>T (p.His1028Leu)
NM_020937.4(FANCM):c.3103A>C (p.Thr1035Pro)
NM_020937.4(FANCM):c.3104C>A (p.Thr1035Asn)
NM_020937.4(FANCM):c.3173A>G (p.Asn1058Ser)
NM_020937.4(FANCM):c.3235A>T (p.Ser1079Cys)
NM_020937.4(FANCM):c.3247T>C (p.Cys1083Arg)
NM_020937.4(FANCM):c.326T>C (p.Val109Ala)
NM_020937.4(FANCM):c.3281T>G (p.Leu1094Ter) rs1555364837
NM_020937.4(FANCM):c.3332T>C (p.Val1111Ala)
NM_020937.4(FANCM):c.3363T>G (p.Ser1121Arg)
NM_020937.4(FANCM):c.3366C>A (p.Asp1122Glu) rs768546653
NM_020937.4(FANCM):c.3373G>C (p.Val1125Leu)
NM_020937.4(FANCM):c.3499A>G (p.Ile1167Val)
NM_020937.4(FANCM):c.3509C>T (p.Thr1170Met) rs151218879
NM_020937.4(FANCM):c.3525G>T (p.Gln1175His)
NM_020937.4(FANCM):c.352A>G (p.Thr118Ala) rs1227473930
NM_020937.4(FANCM):c.3556A>G (p.Asn1186Asp)
NM_020937.4(FANCM):c.3587G>A (p.Arg1196His)
NM_020937.4(FANCM):c.3658A>T (p.Ile1220Phe)
NM_020937.4(FANCM):c.3692C>A (p.Thr1231Asn) rs1555364981
NM_020937.4(FANCM):c.3731A>G (p.Glu1244Gly)
NM_020937.4(FANCM):c.3746C>A (p.Thr1249Lys)
NM_020937.4(FANCM):c.3763C>T (p.Pro1255Ser)
NM_020937.4(FANCM):c.3777A>G (p.Leu1259=)
NM_020937.4(FANCM):c.3793G>C (p.Glu1265Gln) rs1566766047
NM_020937.4(FANCM):c.3827C>T (p.Ser1276Leu)
NM_020937.4(FANCM):c.385T>C (p.Tyr129His)
NM_020937.4(FANCM):c.3868A>G (p.Thr1290Ala)
NM_020937.4(FANCM):c.3887T>C (p.Ile1296Thr)
NM_020937.4(FANCM):c.3965C>T (p.Ser1322Phe)
NM_020937.4(FANCM):c.3992C>T (p.Pro1331Leu) rs149348098
NM_020937.4(FANCM):c.403G>A (p.Gly135Arg)
NM_020937.4(FANCM):c.4069A>G (p.Ile1357Val) rs1555365093
NM_020937.4(FANCM):c.4126G>A (p.Ala1376Thr) rs373590893
NM_020937.4(FANCM):c.4132A>C (p.Asn1378His)
NM_020937.4(FANCM):c.4222+5G>A rs201544504
NM_020937.4(FANCM):c.424C>T (p.Pro142Ser)
NM_020937.4(FANCM):c.4318-3T>G
NM_020937.4(FANCM):c.4352A>G (p.His1451Arg) rs572890751
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968
NM_020937.4(FANCM):c.4367G>A (p.Arg1456His) rs749332566
NM_020937.4(FANCM):c.4387-5_4387-3del
NM_020937.4(FANCM):c.4489G>A (p.Val1497Ile) rs369576101
NM_020937.4(FANCM):c.4574A>G (p.Tyr1525Cys)
NM_020937.4(FANCM):c.4601C>A (p.Ser1534Ter)
NM_020937.4(FANCM):c.461G>C (p.Cys154Ser) rs766755069
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe) rs139536545
NM_020937.4(FANCM):c.4690A>G (p.Ile1564Val)
NM_020937.4(FANCM):c.4727A>G (p.Asn1576Ser)
NM_020937.4(FANCM):c.4784C>A (p.Pro1595His) rs750818919
NM_020937.4(FANCM):c.4847G>A (p.Gly1616Asp)
NM_020937.4(FANCM):c.4857T>A (p.Ser1619Arg)
NM_020937.4(FANCM):c.4884C>A (p.Asn1628Lys)
NM_020937.4(FANCM):c.4934G>A (p.Arg1645His)
NM_020937.4(FANCM):c.4936G>C (p.Ala1646Pro)
NM_020937.4(FANCM):c.4951G>A (p.Glu1651Lys) rs752279370
NM_020937.4(FANCM):c.4959G>A (p.Met1653Ile)
NM_020937.4(FANCM):c.496G>A (p.Ala166Thr) rs369365858
NM_020937.4(FANCM):c.4986G>T (p.Lys1662Asn)
NM_020937.4(FANCM):c.5020A>G (p.Ser1674Gly) rs140499872
NM_020937.4(FANCM):c.5046T>G (p.Asp1682Glu)
NM_020937.4(FANCM):c.504G>C (p.Met168Ile)
NM_020937.4(FANCM):c.5072A>G (p.Asn1691Ser)
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg) rs146897650
NM_020937.4(FANCM):c.5117A>C (p.Asn1706Thr)
NM_020937.4(FANCM):c.5141C>T (p.Ala1714Val)
NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu) rs750384175
NM_020937.4(FANCM):c.5281C>G (p.Pro1761Ala)
NM_020937.4(FANCM):c.5284C>A (p.Pro1762Thr) rs376197752
NM_020937.4(FANCM):c.5285C>G (p.Pro1762Arg)
NM_020937.4(FANCM):c.5318G>C (p.Arg1773Thr)
NM_020937.4(FANCM):c.5337G>T (p.Gln1779His)
NM_020937.4(FANCM):c.5340+1G>T
NM_020937.4(FANCM):c.5359G>T (p.Asp1787Tyr)
NM_020937.4(FANCM):c.538A>G (p.Ile180Val)
NM_020937.4(FANCM):c.5396G>T (p.Arg1799Ile)
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069
NM_020937.4(FANCM):c.544T>A (p.Cys182Ser)
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg) rs368937236
NM_020937.4(FANCM):c.5494_5495del (p.Glu1832fs) rs1566790465
NM_020937.4(FANCM):c.5496A>C (p.Glu1832Asp)
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met) rs144008013
NM_020937.4(FANCM):c.5579G>A (p.Arg1860His)
NM_020937.4(FANCM):c.5603A>G (p.Gln1868Arg)
NM_020937.4(FANCM):c.5683T>C (p.Cys1895Arg)
NM_020937.4(FANCM):c.572C>T (p.Pro191Leu) rs1555358635
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe)
NM_020937.4(FANCM):c.5838G>C (p.Lys1946Asn) rs1060501893
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val)
NM_020937.4(FANCM):c.5855A>G (p.Glu1952Gly)
NM_020937.4(FANCM):c.5927A>G (p.Tyr1976Cys)
NM_020937.4(FANCM):c.59C>G (p.Ser20Cys) rs199699785
NM_020937.4(FANCM):c.6140_*8del (p.Asp2047fs)
NM_020937.4(FANCM):c.625A>C (p.Lys209Gln) rs1555358657
NM_020937.4(FANCM):c.656C>T (p.Ala219Val) rs1566718197
NM_020937.4(FANCM):c.668A>G (p.Tyr223Cys)
NM_020937.4(FANCM):c.730C>G (p.Leu244Val) rs376357342
NM_020937.4(FANCM):c.775A>G (p.Ile259Val)
NM_020937.4(FANCM):c.808C>T (p.Arg270Cys)
NM_020937.4(FANCM):c.865C>G (p.Leu289Val)
NM_020937.4(FANCM):c.866T>C (p.Leu289Pro)
NM_020937.4(FANCM):c.874C>G (p.Pro292Ala)
NM_020937.4(FANCM):c.88G>C (p.Glu30Gln) rs373268822
NM_020937.4(FANCM):c.919-8A>G
NM_020937.4(FANCM):c.925G>A (p.Glu309Lys)
NM_020937.4(FANCM):c.937C>T (p.Arg313Cys)
NM_020937.4(FANCM):c.950A>G (p.Gln317Arg)
NM_020937.4(FANCM):c.985C>G (p.Leu329Val)
NM_020937.4(FANCM):c.98A>G (p.Gln33Arg)
NM_021922.2(FANCE):c.1018G>C (p.Gly340Arg) rs45524646
NM_021922.2(FANCE):c.1027C>T (p.Arg343Trp) rs567313440
NM_021922.2(FANCE):c.1057C>G (p.Pro353Ala) rs878855070
NM_021922.2(FANCE):c.1111C>T (p.Arg371Trp)
NM_021922.2(FANCE):c.1141C>T (p.Arg381Cys) rs371020401
NM_021922.2(FANCE):c.1189C>A (p.Pro397Thr) rs759782690
NM_021922.2(FANCE):c.1278G>A (p.Met426Ile)
NM_021922.2(FANCE):c.1290G>T (p.Glu430Asp) rs886061331
NM_021922.2(FANCE):c.1309A>G (p.Met437Val) rs746770705
NM_021922.2(FANCE):c.1316G>T (p.Gly439Val) rs776298967
NM_021922.2(FANCE):c.1331T>C (p.Leu444Pro) rs745685973
NM_021922.2(FANCE):c.1336T>C (p.Trp446Arg) rs1554122137
NM_021922.2(FANCE):c.1424A>G (p.Lys475Arg) rs200083899
NM_021922.2(FANCE):c.1459A>G (p.Met487Val) rs373735272
NM_021922.2(FANCE):c.1466A>T (p.Tyr489Phe)
NM_021922.2(FANCE):c.1509+3G>A
NM_021922.2(FANCE):c.1520C>T (p.Thr507Ile) rs1413425638
NM_021922.2(FANCE):c.1582A>C (p.Lys528Gln) rs767896075
NM_021922.2(FANCE):c.1588G>A (p.Ala530Thr) rs377415237
NM_021922.2(FANCE):c.1591T>A (p.Leu531Met) rs147390386
NM_021922.2(FANCE):c.1606C>G (p.Pro536Ala) rs1060501873
NM_021922.2(FANCE):c.1610G>T (p.Ter537Leu) rs139547269
NM_021922.2(FANCE):c.169C>T (p.Pro57Ser) rs1561787173
NM_021922.2(FANCE):c.175G>T (p.Asp59Tyr)
NM_021922.2(FANCE):c.206G>A (p.Arg69Gln) rs758238449
NM_021922.2(FANCE):c.214C>T (p.Pro72Ser) rs890865684
NM_021922.2(FANCE):c.229C>A (p.Pro77Thr) rs587778335
NM_021922.2(FANCE):c.274C>T (p.Arg92Trp) rs375195621
NM_021922.2(FANCE):c.298T>A (p.Ser100Thr) rs768911543
NM_021922.2(FANCE):c.311C>G (p.Ala104Gly) rs773580818
NM_021922.2(FANCE):c.316C>T (p.Arg106Trp) rs759034838
NM_021922.2(FANCE):c.31G>A (p.Ala11Thr) rs753304968
NM_021922.2(FANCE):c.356A>C (p.Gln119Pro)
NM_021922.2(FANCE):c.358A>G (p.Ile120Val)
NM_021922.2(FANCE):c.365A>T (p.Gln122Leu) rs1554121253
NM_021922.2(FANCE):c.397C>T (p.Leu133Phe) rs759124595
NM_021922.2(FANCE):c.400C>T (p.Arg134Cys) rs181761362
NM_021922.2(FANCE):c.436G>T (p.Val146Leu) rs755204532
NM_021922.2(FANCE):c.457G>A (p.Ala153Thr) rs151276683
NM_021922.2(FANCE):c.4G>C (p.Ala2Pro) rs886061327
NM_021922.2(FANCE):c.52C>T (p.Pro18Ser) rs552241929
NM_021922.2(FANCE):c.559G>A (p.Glu187Lys) rs142746353
NM_021922.2(FANCE):c.592G>A (p.Gly198Arg) rs747727711
NM_021922.2(FANCE):c.598C>T (p.Arg200Cys) rs763151358
NM_021922.2(FANCE):c.656G>T (p.Arg219Ile)
NM_021922.2(FANCE):c.65T>C (p.Leu22Pro)
NM_021922.2(FANCE):c.679G>A (p.Glu227Lys) rs1287242303
NM_021922.2(FANCE):c.746C>T (p.Ser249Phe)
NM_021922.2(FANCE):c.812C>T (p.Ala271Val) rs1060501874
NM_021922.2(FANCE):c.851T>C (p.Ile284Thr)
NM_021922.2(FANCE):c.856-3C>T rs749111562
NM_021922.2(FANCE):c.88_96CTGCAGGCG[1] (p.30_32LQA[1]) rs780106496
NM_021922.2(FANCE):c.929C>A (p.Pro310Gln) rs139600847
NM_021922.2(FANCE):c.929C>G (p.Pro310Arg) rs139600847
NM_021922.2(FANCE):c.953_958del (p.Glu318_Ser320delinsGly) rs1475613789
NM_021922.2(FANCE):c.968A>G (p.Gln323Arg)
NM_021922.2(FANCE):c.970-6A>T
NM_021922.2(FANCE):c.998T>C (p.Leu333Pro) rs770592868
NM_022725.3(FANCF):c.128A>C (p.His43Pro)
NM_022725.3(FANCF):c.149G>C (p.Arg50Pro)
NM_022725.3(FANCF):c.14T>C (p.Leu5Pro) rs1159900858
NM_022725.3(FANCF):c.153T>A (p.His51Gln) rs142247452
NM_022725.3(FANCF):c.211G>A (p.Gly71Ser)
NM_022725.3(FANCF):c.241G>T (p.Ala81Ser) rs145057187
NM_022725.3(FANCF):c.352G>T (p.Gly118Cys) rs1060501871
NM_022725.3(FANCF):c.356C>T (p.Pro119Leu) rs760472320
NM_022725.3(FANCF):c.385C>G (p.Leu129Val) rs61753271
NM_022725.3(FANCF):c.446A>G (p.Asn149Ser) rs377309460
NM_022725.3(FANCF):c.469C>T (p.Leu157Phe) rs1060501870
NM_022725.3(FANCF):c.489G>C (p.Met163Ile)
NM_022725.3(FANCF):c.49G>T (p.Val17Phe)
NM_022725.3(FANCF):c.547G>A (p.Glu183Lys) rs774728053
NM_022725.3(FANCF):c.573C>G (p.Ser191Arg) rs146219377
NM_022725.3(FANCF):c.626T>C (p.Leu209Pro) rs1554963662
NM_022725.3(FANCF):c.633G>T (p.Gln211His) rs146975768
NM_022725.3(FANCF):c.637C>T (p.Pro213Ser)
NM_022725.3(FANCF):c.65A>G (p.Tyr22Cys)
NM_022725.3(FANCF):c.67G>T (p.Val23Phe) rs777143902
NM_022725.3(FANCF):c.701G>A (p.Ser234Asn)
NM_022725.3(FANCF):c.728G>A (p.Gly243Glu) rs150216454
NM_022725.3(FANCF):c.795C>A (p.Ser265Arg)
NM_022725.3(FANCF):c.860A>G (p.Tyr287Cys) rs750623273
NM_022725.3(FANCF):c.889A>G (p.Thr297Ala) rs1060501872
NM_022725.3(FANCF):c.907C>T (p.Pro303Ser) rs199717587
NM_022725.3(FANCF):c.923A>G (p.His308Arg)
NM_022725.3(FANCF):c.936A>T (p.Gln312His)
NM_022725.3(FANCF):c.943dup (p.Cys315fs)
NM_022725.3(FANCF):c.96_98dup (p.Arg33dup) rs1554963731
NM_022762.5(RMND5B):c.*1748_*1755dup rs755460344
NM_022762.5(RMND5B):c.*1760A>G rs759145032
NM_022836.4(DCLRE1B):c.10G>A (p.Val4Ile) rs1437958560
NM_022836.4(DCLRE1B):c.1149G>A (p.Ala383=) rs759682384
NM_022836.4(DCLRE1B):c.1163A>G (p.Gln388Arg)
NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp)
NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe)
NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg)
NM_022836.4(DCLRE1B):c.136C>T (p.Arg46Trp)
NM_022836.4(DCLRE1B):c.137G>T (p.Arg46Leu)
NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs) rs779442399
NM_022836.4(DCLRE1B):c.1461C>G (p.Ser487Arg) rs1558110707
NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala) rs770692934
NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile)
NM_022836.4(DCLRE1B):c.77T>G (p.Leu26Arg) rs1553260999
NM_022836.4(DCLRE1B):c.78_80CTT[2] (p.Phe28del) rs763030449
NM_022836.4(DCLRE1B):c.892G>A (p.Val298Ile)
NM_022836.4(DCLRE1B):c.923A>G (p.Asp308Gly) rs1199130382
NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met)
NM_022836.4(DCLRE1B):c.950C>G (p.Pro317Arg)
NM_025099.6(CTC1):c.1045C>T (p.Leu349Phe)
NM_025099.6(CTC1):c.1052G>A (p.Arg351Gln)
NM_025099.6(CTC1):c.1076C>T (p.Ser359Leu)
NM_025099.6(CTC1):c.1166G>A (p.Arg389His)
NM_025099.6(CTC1):c.1178G>A (p.Arg393Gln)
NM_025099.6(CTC1):c.1199G>A (p.Cys400Tyr) rs1483913680
NM_025099.6(CTC1):c.1207-7C>A
NM_025099.6(CTC1):c.1240G>T (p.Gly414Trp)
NM_025099.6(CTC1):c.1280G>T (p.Gly427Val)
NM_025099.6(CTC1):c.1297A>G (p.Ser433Gly) rs1391872586
NM_025099.6(CTC1):c.139A>G (p.Lys47Glu)
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly) rs747887601
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp) rs199698527
NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile)
NM_025099.6(CTC1):c.1602C>A (p.His534Gln)
NM_025099.6(CTC1):c.1681C>A (p.Arg561Ser) rs202212634
NM_025099.6(CTC1):c.1682G>C (p.Arg561Pro) rs373690929
NM_025099.6(CTC1):c.170A>G (p.Gln57Arg)
NM_025099.6(CTC1):c.1760A>G (p.Asn587Ser)
NM_025099.6(CTC1):c.1859G>A (p.Cys620Tyr)
NM_025099.6(CTC1):c.1870C>T (p.Arg624Trp) rs759039504
NM_025099.6(CTC1):c.194A>G (p.Tyr65Cys) rs201731405
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700
NM_025099.6(CTC1):c.1981G>A (p.Val661Ile) rs534923467
NM_025099.6(CTC1):c.202G>A (p.Val68Ile) rs1060499949
NM_025099.6(CTC1):c.2036G>A (p.Gly679Asp)
NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr) rs1567604032
NM_025099.6(CTC1):c.2191C>T (p.Arg731Trp)
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953
NM_025099.6(CTC1):c.21G>C (p.Gln7His)
NM_025099.6(CTC1):c.2260C>G (p.Pro754Ala)
NM_025099.6(CTC1):c.2266G>A (p.Val756Met)
NM_025099.6(CTC1):c.2278G>A (p.Ala760Thr)
NM_025099.6(CTC1):c.2291A>G (p.Tyr764Cys)
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys) rs201879837
NM_025099.6(CTC1):c.2356C>A (p.Pro786Thr) rs1026203083
NM_025099.6(CTC1):c.2421G>T (p.Trp807Cys) rs765221206
NM_025099.6(CTC1):c.2441G>A (p.Gly814Glu)
NM_025099.6(CTC1):c.2461G>T (p.Ala821Ser) rs771475755
NM_025099.6(CTC1):c.2497G>C (p.Asp833His) rs754510180
NM_025099.6(CTC1):c.2575A>T (p.Thr859Ser)
NM_025099.6(CTC1):c.25C>T (p.Pro9Ser)
NM_025099.6(CTC1):c.2602A>G (p.Ile868Val) rs1555532937
NM_025099.6(CTC1):c.2653G>T (p.Asp885Tyr)
NM_025099.6(CTC1):c.2686G>T (p.Val896Leu)
NM_025099.6(CTC1):c.2738C>T (p.Ala913Val)
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp) rs771646414
NM_025099.6(CTC1):c.2770G>A (p.Ala924Thr)
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu)
NM_025099.6(CTC1):c.286G>A (p.Ala96Thr)
NM_025099.6(CTC1):c.2881C>G (p.Leu961Val) rs1567600596
NM_025099.6(CTC1):c.2933+3G>A rs878855127
NM_025099.6(CTC1):c.3156+6G>A
NM_025099.6(CTC1):c.3169C>T (p.Arg1057Cys) rs376349076
NM_025099.6(CTC1):c.3173T>G (p.Leu1058Arg) rs146536910
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala) rs777357385
NM_025099.6(CTC1):c.320C>G (p.Pro107Arg)
NM_025099.6(CTC1):c.323G>A (p.Arg108Gln) rs368398609
NM_025099.6(CTC1):c.3253G>A (p.Val1085Met)
NM_025099.6(CTC1):c.3253G>C (p.Val1085Leu)
NM_025099.6(CTC1):c.3269A>G (p.Asn1090Ser) rs368562418
NM_025099.6(CTC1):c.3271C>T (p.His1091Tyr) rs1358175667
NM_025099.6(CTC1):c.3272A>G (p.His1091Arg)
NM_025099.6(CTC1):c.3281C>T (p.Ala1094Val)
NM_025099.6(CTC1):c.3301C>A (p.Pro1101Thr)
NM_025099.6(CTC1):c.3317C>A (p.Ser1106Tyr) rs367822614
NM_025099.6(CTC1):c.3331G>C (p.Val1111Leu)
NM_025099.6(CTC1):c.3403G>A (p.Asp1135Asn)
NM_025099.6(CTC1):c.3413T>A (p.Met1138Lys)
NM_025099.6(CTC1):c.3421T>C (p.Phe1141Leu)
NM_025099.6(CTC1):c.3458G>C (p.Arg1153Pro)
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln) rs201788219
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln) rs778830884
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg)
NM_025099.6(CTC1):c.444C>A (p.Asp148Glu) rs542910040
NM_025099.6(CTC1):c.448G>A (p.Asp150Asn) rs374418436
NM_025099.6(CTC1):c.502C>T (p.Pro168Ser)
NM_025099.6(CTC1):c.503C>A (p.Pro168His) rs1567613854
NM_025099.6(CTC1):c.505G>A (p.Ala169Thr)
NM_025099.6(CTC1):c.547G>A (p.Asp183Asn)
NM_025099.6(CTC1):c.556G>C (p.Val186Leu) rs185346402
NM_025099.6(CTC1):c.738C>G (p.Ile246Met) rs1463129527
NM_025099.6(CTC1):c.833G>T (p.Gly278Val)
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464
NM_025099.6(CTC1):c.888G>T (p.Gln296His)
NM_025099.6(CTC1):c.8C>G (p.Ala3Gly)
NM_025099.6(CTC1):c.8C>T (p.Ala3Val)
NM_030943.3(AMN):c.400C>G (p.Arg134Gly) rs758317090
NM_030943.3(AMN):c.989C>A (p.Ala330Glu)
NM_032043.2(BRIP1):c.1000G>A (p.Ala334Thr) rs535414791
NM_032043.2(BRIP1):c.1000G>T (p.Ala334Ser) rs535414791
NM_032043.2(BRIP1):c.1009A>G (p.Ile337Val)
NM_032043.2(BRIP1):c.1012G>A (p.Glu338Lys) rs777653224
NM_032043.2(BRIP1):c.1018C>T (p.Leu340Phe) rs755796609
NM_032043.2(BRIP1):c.1024A>C (p.Ser342Arg)
NM_032043.2(BRIP1):c.1028T>C (p.Leu343Pro) rs1414803437
NM_032043.2(BRIP1):c.1030G>A (p.Gly344Arg) rs1555607734
NM_032043.2(BRIP1):c.1031G>A (p.Gly344Glu) rs751841684
NM_032043.2(BRIP1):c.1040T>C (p.Leu347Pro) rs786201819
NM_032043.2(BRIP1):c.1045G>A (p.Ala349Thr) rs149364097
NM_032043.2(BRIP1):c.1048T>C (p.Cys350Arg) rs876658173
NM_032043.2(BRIP1):c.1054T>C (p.Tyr352His) rs730881632
NM_032043.2(BRIP1):c.1057T>C (p.Tyr353His) rs1567831780
NM_032043.2(BRIP1):c.1066C>G (p.Arg356Gly)
NM_032043.2(BRIP1):c.1069G>A (p.Glu357Lys)
NM_032043.2(BRIP1):c.107T>C (p.Leu36Ser) rs1060501767
NM_032043.2(BRIP1):c.1081G>A (p.Asp361Asn)
NM_032043.2(BRIP1):c.1081G>T (p.Asp361Tyr) rs1060501737
NM_032043.2(BRIP1):c.108A>C (p.Leu36Phe) rs774586397
NM_032043.2(BRIP1):c.1090A>G (p.Ile364Val) rs770306753
NM_032043.2(BRIP1):c.1099T>C (p.Cys367Arg) rs1567831592
NM_032043.2(BRIP1):c.10A>G (p.Met4Val) rs45512093
NM_032043.2(BRIP1):c.1102C>T (p.Pro368Ser) rs1555607669
NM_032043.2(BRIP1):c.1105T>C (p.Tyr369His) rs587781325
NM_032043.2(BRIP1):c.1106A>G (p.Tyr369Cys) rs786202218
NM_032043.2(BRIP1):c.1112A>G (p.Tyr371Cys) rs1060501768
NM_032043.2(BRIP1):c.1114C>T (p.Leu372Phe) rs786202637
NM_032043.2(BRIP1):c.1123G>A (p.Ala375Thr) rs878855135
NM_032043.2(BRIP1):c.1124C>T (p.Ala375Val) rs786202192
NM_032043.2(BRIP1):c.1129A>G (p.Ile377Val) rs876659688
NM_032043.2(BRIP1):c.1133G>A (p.Arg378Lys) rs1555607637
NM_032043.2(BRIP1):c.1139G>T (p.Ser380Ile) rs569696977
NM_032043.2(BRIP1):c.113G>A (p.Ser38Asn) rs1555618429
NM_032043.2(BRIP1):c.1140+3G>A rs1322162359
NM_032043.2(BRIP1):c.1140+7A>G rs1299846526
NM_032043.2(BRIP1):c.1141-3T>C rs773264592
NM_032043.2(BRIP1):c.1141-5T>A rs1060501760
NM_032043.2(BRIP1):c.1141-7_1141-3delCTTAT rs1060501744
NM_032043.2(BRIP1):c.1142T>A (p.Met381Lys) rs1060501741
NM_032043.2(BRIP1):c.1147T>G (p.Leu383Val)
NM_032043.2(BRIP1):c.1151A>G (p.Asn384Ser) rs1060501750
NM_032043.2(BRIP1):c.1153C>A (p.Leu385Met) rs748001678
NM_032043.2(BRIP1):c.1158A>G (p.Lys386=) rs1567829719
NM_032043.2(BRIP1):c.1164G>T (p.Gln388His)
NM_032043.2(BRIP1):c.1165G>A (p.Val389Ile) rs587780825
NM_032043.2(BRIP1):c.1171A>G (p.Ile391Val) rs863224798
NM_032043.2(BRIP1):c.1173T>G (p.Ile391Met)
NM_032043.2(BRIP1):c.1177G>C (p.Asp393His) rs1555607200
NM_032043.2(BRIP1):c.1184C>A (p.Ala395Asp) rs778992385
NM_032043.2(BRIP1):c.1184C>T (p.Ala395Val) rs778992385
NM_032043.2(BRIP1):c.1186C>G (p.His396Asp)
NM_032043.2(BRIP1):c.1187A>G (p.His396Arg) rs996493095
NM_032043.2(BRIP1):c.1189A>C (p.Asn397His) rs587782039
NM_032043.2(BRIP1):c.1192A>G (p.Ile398Val) rs786203967
NM_032043.2(BRIP1):c.1195G>A (p.Glu399Lys) rs587782816
NM_032043.2(BRIP1):c.1197G>C (p.Glu399Asp) rs1567829526
NM_032043.2(BRIP1):c.1198G>T (p.Asp400Tyr) rs764711572
NM_032043.2(BRIP1):c.1201T>C (p.Cys401Arg)
NM_032043.2(BRIP1):c.1202G>A (p.Cys401Tyr)
NM_032043.2(BRIP1):c.1205C>T (p.Ala402Val) rs876659282
NM_032043.2(BRIP1):c.1207C>T (p.Arg403Trp) rs369631413
NM_032043.2(BRIP1):c.1208G>A (p.Arg403Gln) rs786202780
NM_032043.2(BRIP1):c.1216G>T (p.Ala406Ser) rs1060501747
NM_032043.2(BRIP1):c.1219A>G (p.Ser407Gly) rs1555607156
NM_032043.2(BRIP1):c.1220G>A (p.Ser407Asn) rs759835916
NM_032043.2(BRIP1):c.1226G>C (p.Ser409Thr)
NM_032043.2(BRIP1):c.1238T>C (p.Val413Ala) rs45576134
NM_032043.2(BRIP1):c.1246C>T (p.Arg416Trp) rs587780225
NM_032043.2(BRIP1):c.1247G>A (p.Arg416Gln) rs772570870
NM_032043.2(BRIP1):c.124T>C (p.Cys42Arg) rs1567877037
NM_032043.2(BRIP1):c.1252G>T (p.Ala418Ser) rs1567829310
NM_032043.2(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.2(BRIP1):c.1256G>A (p.Arg419Gln) rs748105919
NM_032043.2(BRIP1):c.125G>T (p.Cys42Phe) rs1555618423
NM_032043.2(BRIP1):c.1268A>G (p.Asp423Gly) rs746778889
NM_032043.2(BRIP1):c.1271G>A (p.Ser424Asn) rs1354610577
NM_032043.2(BRIP1):c.1273A>G (p.Met425Val) rs1567829230
NM_032043.2(BRIP1):c.1275G>A (p.Met425Ile) rs1555607086
NM_032043.2(BRIP1):c.1283A>C (p.Asn428Thr) rs779237423
NM_032043.2(BRIP1):c.1286A>C (p.Asn429Thr) rs587781463
NM_032043.2(BRIP1):c.1289T>C (p.Ile430Thr) rs1555607077
NM_032043.2(BRIP1):c.1292G>A (p.Arg431Lys) rs1328630889
NM_032043.2(BRIP1):c.12G>A (p.Met4Ile) rs1386396228
NM_032043.2(BRIP1):c.1301A>T (p.Asp434Val) rs1567829117
NM_032043.2(BRIP1):c.1303C>T (p.His435Tyr) rs1060501758
NM_032043.2(BRIP1):c.1304A>G (p.His435Arg) rs730881636
NM_032043.2(BRIP1):c.1309C>G (p.Pro437Ala) rs878855137
NM_032043.2(BRIP1):c.1316G>A (p.Arg439Gln) rs753214212
NM_032043.2(BRIP1):c.1321G>A (p.Val441Met) rs1060501782
NM_032043.2(BRIP1):c.1324T>C (p.Cys442Arg)
NM_032043.2(BRIP1):c.1328G>A (p.Cys443Tyr) rs1555607035
NM_032043.2(BRIP1):c.1332C>A (p.Ser444Arg)
NM_032043.2(BRIP1):c.1332C>G (p.Ser444Arg)
NM_032043.2(BRIP1):c.133G>A (p.Glu45Lys) rs587781292
NM_032043.2(BRIP1):c.1340+3A>C rs1060501770
NM_032043.2(BRIP1):c.1340+9A>G
NM_032043.2(BRIP1):c.1343G>T (p.Trp448Leu)
NM_032043.2(BRIP1):c.1357G>A (p.Ala453Thr) rs587780227
NM_032043.2(BRIP1):c.1361A>C (p.Glu454Ala)
NM_032043.2(BRIP1):c.1361A>T (p.Glu454Val) rs769918040
NM_032043.2(BRIP1):c.1363T>A (p.Tyr455Asn) rs587780826
NM_032043.2(BRIP1):c.1367T>A (p.Leu456His) rs1555605947
NM_032043.2(BRIP1):c.1369G>C (p.Val457Leu) rs748221377
NM_032043.2(BRIP1):c.1375A>G (p.Arg459Gly) rs752052351
NM_032043.2(BRIP1):c.137G>A (p.Ser46Asn) rs1567877002
NM_032043.2(BRIP1):c.1387T>C (p.Ser463Pro) rs1555605920
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.2(BRIP1):c.1402T>C (p.Trp468Arg)
NM_032043.2(BRIP1):c.1408G>A (p.Gly470Arg)
NM_032043.2(BRIP1):c.143C>A (p.Thr48Lys) rs755317452
NM_032043.2(BRIP1):c.1440G>C (p.Met480Ile) rs1555605887
NM_032043.2(BRIP1):c.1441G>T (p.Gly481Cys) rs587780229
NM_032043.2(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099
NM_032043.2(BRIP1):c.1444A>G (p.Ile482Val) rs142744352
NM_032043.2(BRIP1):c.1462C>T (p.Pro488Ser) rs1450320184
NM_032043.2(BRIP1):c.1465A>G (p.Ile489Val) rs1555605855
NM_032043.2(BRIP1):c.1467T>G (p.Ile489Met) rs587780230
NM_032043.2(BRIP1):c.1472A>T (p.Gln491Leu) rs1555605852
NM_032043.2(BRIP1):c.1473+4_1473+8delAGATA rs730881650
NM_032043.2(BRIP1):c.1473+6A>G rs587780827
NM_032043.2(BRIP1):c.1474-3T>C rs552752779
NM_032043.2(BRIP1):c.1474-7C>A rs886041146
NM_032043.2(BRIP1):c.1478A>T (p.His493Leu) rs1555603626
NM_032043.2(BRIP1):c.1483T>C (p.Ser495Pro) rs1555603617
NM_032043.2(BRIP1):c.1483T>G (p.Ser495Ala)
NM_032043.2(BRIP1):c.1484C>A (p.Ser495Tyr)
NM_032043.2(BRIP1):c.1489G>A (p.Val497Ile)
NM_032043.2(BRIP1):c.1489G>C (p.Val497Leu) rs876658725
NM_032043.2(BRIP1):c.1497A>G (p.Gln499=) rs1555603597
NM_032043.2(BRIP1):c.1509A>C (p.Lys503Asn) rs1443429619
NM_032043.2(BRIP1):c.1514C>T (p.Ser505Leu) rs945661395
NM_032043.2(BRIP1):c.1519A>G (p.Ile507Val) rs1555603569
NM_032043.2(BRIP1):c.1528A>G (p.Lys510Glu)
NM_032043.2(BRIP1):c.1545A>C (p.Glu515Asp) rs1567816977
NM_032043.2(BRIP1):c.1549C>T (p.Pro517Ser)
NM_032043.2(BRIP1):c.1552G>A (p.Val518Ile) rs786201701
NM_032043.2(BRIP1):c.1556T>C (p.Ile519Thr) rs1555603538
NM_032043.2(BRIP1):c.1559G>A (p.Ser520Asn)
NM_032043.2(BRIP1):c.1568C>T (p.Thr523Ile) rs1060501764
NM_032043.2(BRIP1):c.1571A>C (p.Gln524Pro) rs587781726
NM_032043.2(BRIP1):c.1571A>G (p.Gln524Arg) rs587781726
NM_032043.2(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu) rs1064795196
NM_032043.2(BRIP1):c.1585G>C (p.Gly529Arg) rs876659321
NM_032043.2(BRIP1):c.1586G>A (p.Gly529Glu) rs138784299
NM_032043.2(BRIP1):c.1589T>C (p.Leu530Pro)
NM_032043.2(BRIP1):c.158_159delinsTT (p.Ser53Ile) rs786202417
NM_032043.2(BRIP1):c.1591T>G (p.Phe531Val) rs4988350
NM_032043.2(BRIP1):c.1592T>C (p.Phe531Ser) rs878855139
NM_032043.2(BRIP1):c.1594A>G (p.Met532Val) rs876658383
NM_032043.2(BRIP1):c.1607A>G (p.Tyr536Cys) rs1060501752
NM_032043.2(BRIP1):c.1609C>G (p.Leu537Val) rs864622208
NM_032043.2(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.2(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349
NM_032043.2(BRIP1):c.1628+5G>A rs754929230
NM_032043.2(BRIP1):c.1628+6T>C rs1567816699
NM_032043.2(BRIP1):c.1629-3T>C rs587780828
NM_032043.2(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731
NM_032043.2(BRIP1):c.1643A>G (p.Tyr548Cys) rs587782405
NM_032043.2(BRIP1):c.164C>T (p.Ala55Val)
NM_032043.2(BRIP1):c.1650T>G (p.Ile550Met) rs587782254
NM_032043.2(BRIP1):c.1652C>A (p.Ala551Glu) rs375246789
NM_032043.2(BRIP1):c.1652C>T (p.Ala551Val) rs375246789
NM_032043.2(BRIP1):c.1655T>C (p.Ile552Thr) rs369340666
NM_032043.2(BRIP1):c.1660C>G (p.Gln554Glu) rs777217004
NM_032043.2(BRIP1):c.1662G>C (p.Gln554His) rs1060501749
NM_032043.2(BRIP1):c.1672T>C (p.Trp558Arg) rs767648925
NM_032043.2(BRIP1):c.1676C>G (p.Thr559Arg) rs876658266
NM_032043.2(BRIP1):c.1682A>C (p.Gln561Pro)
NM_032043.2(BRIP1):c.1684A>G (p.Ile562Val) rs45533636
NM_032043.2(BRIP1):c.1687_1689del (p.Asp563del) rs780590493
NM_032043.2(BRIP1):c.1688A>G (p.Asp563Gly) rs577768294
NM_032043.2(BRIP1):c.1688A>T (p.Asp563Val)
NM_032043.2(BRIP1):c.1691T>C (p.Ile564Thr) rs755635967
NM_032043.2(BRIP1):c.1694C>T (p.Ser565Leu)
NM_032043.2(BRIP1):c.1697A>T (p.Asp566Val)
NM_032043.2(BRIP1):c.1704T>G (p.Asn568Lys) rs763458922
NM_032043.2(BRIP1):c.1705G>C (p.Gly569Arg) rs1259933364
NM_032043.2(BRIP1):c.1715T>G (p.Val572Gly)
NM_032043.2(BRIP1):c.1717C>G (p.Leu573Val) rs786202587
NM_032043.2(BRIP1):c.1721C>T (p.Pro574Leu) rs377302300
NM_032043.2(BRIP1):c.1730A>T (p.Lys577Met) rs1411869768
NM_032043.2(BRIP1):c.1735C>A (p.Arg579Ser)
NM_032043.2(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571
NM_032043.2(BRIP1):c.1736G>A (p.Arg579His) rs768224857
NM_032043.2(BRIP1):c.1739C>T (p.Ser580Leu) rs1356014648
NM_032043.2(BRIP1):c.173G>A (p.Cys58Tyr) rs749920386
NM_032043.2(BRIP1):c.1742G>A (p.Arg581Gln) rs587778133
NM_032043.2(BRIP1):c.1748A>G (p.Lys583Arg) rs876658547
NM_032043.2(BRIP1):c.1754C>A (p.Ala585Glu) rs756946068
NM_032043.2(BRIP1):c.1759C>G (p.His587Asp) rs876660519
NM_032043.2(BRIP1):c.1760A>T (p.His587Leu) rs876660646
NM_032043.2(BRIP1):c.1762G>A (p.Val588Met) rs876660355
NM_032043.2(BRIP1):c.1771T>A (p.Phe591Ile) rs876661057
NM_032043.2(BRIP1):c.1780_1781inv (p.Leu594Lys)
NM_032043.2(BRIP1):c.1781T>C (p.Leu594Ser) rs587781559
NM_032043.2(BRIP1):c.1782A>T (p.Leu594Phe) rs1567813260
NM_032043.2(BRIP1):c.178G>A (p.Ala60Thr) rs1555618394
NM_032043.2(BRIP1):c.1790C>G (p.Ala597Gly) rs751667661
NM_032043.2(BRIP1):c.1795-12_1795-10delGTT rs1475317357
NM_032043.2(BRIP1):c.1798T>C (p.Phe600Leu) rs745367580
NM_032043.2(BRIP1):c.1800T>G (p.Phe600Leu)
NM_032043.2(BRIP1):c.1808T>A (p.Ile603Asn) rs1555602215
NM_032043.2(BRIP1):c.1824G>C (p.Gln608His) rs1567812636
NM_032043.2(BRIP1):c.1825A>G (p.Thr609Ala) rs189758577
NM_032043.2(BRIP1):c.182T>C (p.Leu61Ser) rs1567876917
NM_032043.2(BRIP1):c.1831G>A (p.Val611Ile) rs777741543
NM_032043.2(BRIP1):c.1838C>T (p.Thr613Ile) rs864622345
NM_032043.2(BRIP1):c.184G>A (p.Ala62Thr) rs786202861
NM_032043.2(BRIP1):c.1850T>C (p.Leu617Ser) rs1064794095
NM_032043.2(BRIP1):c.1852T>C (p.Ser618Pro) rs876660191
NM_032043.2(BRIP1):c.1859T>A (p.Met620Lys) rs1555602185
NM_032043.2(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.2(BRIP1):c.1883G>T (p.Gly628Val) rs1064794907
NM_032043.2(BRIP1):c.1889C>A (p.Thr630Lys) rs780407946
NM_032043.2(BRIP1):c.1897A>C (p.Ile633Leu) rs765314472
NM_032043.2(BRIP1):c.1898T>C (p.Ile633Thr) rs587780232
NM_032043.2(BRIP1):c.1899C>G (p.Ile633Met) rs28997572
NM_032043.2(BRIP1):c.1902G>C (p.Gln634His) rs1060501748
NM_032043.2(BRIP1):c.1906G>A (p.Glu636Lys) rs1060501769
NM_032043.2(BRIP1):c.1916A>G (p.His639Arg)
NM_032043.2(BRIP1):c.1935+4_1935+7delAGTT rs766199221
NM_032043.2(BRIP1):c.1935+6T>C rs1555602118
NM_032043.2(BRIP1):c.1935G>C (p.Gln645His) rs1254051324
NM_032043.2(BRIP1):c.1936-5_1936-4delTCinsGT rs587781481
NM_032043.2(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.2(BRIP1):c.1941G>T (p.Trp647Cys) rs786202760
NM_032043.2(BRIP1):c.1942G>A (p.Val648Ile) rs780475484
NM_032043.2(BRIP1):c.1946G>C (p.Gly649Ala) rs746066323
NM_032043.2(BRIP1):c.1952T>C (p.Ile651Thr) rs757305097
NM_032043.2(BRIP1):c.1958C>T (p.Ser653Leu) rs756511744
NM_032043.2(BRIP1):c.1963C>T (p.Pro655Ser) rs753036322
NM_032043.2(BRIP1):c.1967A>G (p.Lys656Arg) rs1322017079
NM_032043.2(BRIP1):c.1969G>C (p.Gly657Arg)
NM_032043.2(BRIP1):c.1972C>T (p.Arg658Trp) rs786203170
NM_032043.2(BRIP1):c.1973G>A (p.Arg658Gln) rs759142191
NM_032043.2(BRIP1):c.1978C>T (p.Leu660Phe) rs1060501746
NM_032043.2(BRIP1):c.1981T>C (p.Cys661Arg)
NM_032043.2(BRIP1):c.1984G>A (p.Ala662Thr) rs571340013
NM_032043.2(BRIP1):c.1996A>C (p.Asn666His)
NM_032043.2(BRIP1):c.1A>G (p.Met1Val) rs764585550
NM_032043.2(BRIP1):c.1A>T (p.Met1Leu) rs764585550
NM_032043.2(BRIP1):c.1_2del (p.Met1fs) rs876661246
NM_032043.2(BRIP1):c.2009T>C (p.Phe670Ser) rs1555601107
NM_032043.2(BRIP1):c.2012A>G (p.Glu671Gly) rs587778135
NM_032043.2(BRIP1):c.2018A>G (p.Gln673Arg) rs786203619
NM_032043.2(BRIP1):c.2020G>A (p.Asp674Asn) rs1567808842
NM_032043.2(BRIP1):c.2021A>G (p.Asp674Gly) rs1555601087
NM_032043.2(BRIP1):c.2030G>A (p.Gly677Glu) rs1567808797
NM_032043.2(BRIP1):c.2035C>T (p.Leu679Phe) rs1555601056
NM_032043.2(BRIP1):c.2047G>C (p.Val683Leu)
NM_032043.2(BRIP1):c.2048T>G (p.Val683Gly) rs1294492499
NM_032043.2(BRIP1):c.205+4A>G rs1060501753
NM_032043.2(BRIP1):c.205+6T>A rs1555618360
NM_032043.2(BRIP1):c.2056A>G (p.Thr686Ala) rs769820537
NM_032043.2(BRIP1):c.205G>A (p.Gly69Arg) rs372581879
NM_032043.2(BRIP1):c.206-6T>A rs1555617938
NM_032043.2(BRIP1):c.2060T>C (p.Val687Ala) rs1555601030
NM_032043.2(BRIP1):c.2069G>A (p.Gly690Glu) rs878855144
NM_032043.2(BRIP1):c.2071A>C (p.Ile691Leu) rs587782356
NM_032043.2(BRIP1):c.2071A>G (p.Ile691Val)
NM_032043.2(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155
NM_032043.2(BRIP1):c.2089T>C (p.Ser697Pro)
NM_032043.2(BRIP1):c.2097+6G>A
NM_032043.2(BRIP1):c.2097G>A (p.Lys699=) rs1060501754
NM_032043.2(BRIP1):c.2098-3T>C rs1057520463
NM_032043.2(BRIP1):c.209A>C (p.Lys70Thr) rs957072709
NM_032043.2(BRIP1):c.2119C>A (p.Arg707Ser)
NM_032043.2(BRIP1):c.2119C>T (p.Arg707Cys) rs764803896
NM_032043.2(BRIP1):c.2120G>A (p.Arg707His) rs200313471
NM_032043.2(BRIP1):c.2120G>T (p.Arg707Leu) rs200313471
NM_032043.2(BRIP1):c.2121T>G (p.Arg707=)
NM_032043.2(BRIP1):c.2131A>G (p.Thr711Ala) rs760515227
NM_032043.2(BRIP1):c.2135G>T (p.Gly712Val) rs1060501755
NM_032043.2(BRIP1):c.2146A>G (p.Asn716Asp) rs1060501745
NM_032043.2(BRIP1):c.214G>A (p.Ala72Thr) rs1357919929
NM_032043.2(BRIP1):c.2158G>A (p.Val720Met) rs1555591459
NM_032043.2(BRIP1):c.2158_2160del (p.Val720del) rs878855146
NM_032043.2(BRIP1):c.2167G>A (p.Val723Ile) rs145616741
NM_032043.2(BRIP1):c.2173G>A (p.Val725Ile) rs1236873736
NM_032043.2(BRIP1):c.2178A>C (p.Glu726Asp) rs1555591425
NM_032043.2(BRIP1):c.2179C>G (p.Pro727Ala)
NM_032043.2(BRIP1):c.2180C>T (p.Pro727Leu) rs876659309
NM_032043.2(BRIP1):c.2185G>A (p.Gly729Arg) rs1555591407
NM_032043.2(BRIP1):c.2189G>A (p.Gly730Glu) rs748616469
NM_032043.2(BRIP1):c.2216T>C (p.Leu739Pro) rs587780234
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.2(BRIP1):c.2225A>C (p.Tyr742Ser) rs1555591351
NM_032043.2(BRIP1):c.2228A>C (p.Tyr743Ser) rs750033391
NM_032043.2(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235
NM_032043.2(BRIP1):c.2247A>T (p.Lys749Asn) rs587782556
NM_032043.2(BRIP1):c.2257+5C>T rs1057523068
NM_032043.2(BRIP1):c.2257+6_2257+7delTG rs1255940179
NM_032043.2(BRIP1):c.2257G>C (p.Asp753His)
NM_032043.2(BRIP1):c.2258-3A>G rs786203561
NM_032043.2(BRIP1):c.2258-5T>G rs1555590588
NM_032043.2(BRIP1):c.2258-7G>A rs1060501777
NM_032043.2(BRIP1):c.2258A>G (p.Asp753Gly) rs745578572
NM_032043.2(BRIP1):c.2264C>G (p.Ala755Gly) rs1555590565
NM_032043.2(BRIP1):c.2264C>T (p.Ala755Val) rs1555590565
NM_032043.2(BRIP1):c.226G>A (p.Val76Ile) rs769573395
NM_032043.2(BRIP1):c.2281T>G (p.Cys761Gly) rs1422958547
NM_032043.2(BRIP1):c.2282G>C (p.Cys761Ser) rs1567779745
NM_032043.2(BRIP1):c.2284C>T (p.Arg762Cys) rs587778136
NM_032043.2(BRIP1):c.2284_2285delinsTA (p.Arg762Tyr) rs1555590511
NM_032043.2(BRIP1):c.2285G>A (p.Arg762His) rs200960251
NM_032043.2(BRIP1):c.2285G>T (p.Arg762Leu) rs200960251
NM_032043.2(BRIP1):c.2309A>G (p.Asp770Gly) rs1555590457
NM_032043.2(BRIP1):c.2317G>A (p.Asp773Asn)
NM_032043.2(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955
NM_032043.2(BRIP1):c.2325T>G (p.Asn775Lys) rs375146450
NM_032043.2(BRIP1):c.2327C>A (p.Ala776Asp) rs1555590421
NM_032043.2(BRIP1):c.2329C>G (p.Arg777Gly)
NM_032043.2(BRIP1):c.2329C>T (p.Arg777Cys) rs768555161
NM_032043.2(BRIP1):c.2330G>A (p.Arg777His) rs747568830
NM_032043.2(BRIP1):c.2335G>C (p.Val779Leu)
NM_032043.2(BRIP1):c.2336T>A (p.Val779Asp) rs1567779485
NM_032043.2(BRIP1):c.2339T>C (p.Ile780Thr)
NM_032043.2(BRIP1):c.2339T>G (p.Ile780Arg) rs1467232177
NM_032043.2(BRIP1):c.2344A>G (p.Ile782Val) rs142806416
NM_032043.2(BRIP1):c.2345T>C (p.Ile782Thr) rs778758437
NM_032043.2(BRIP1):c.2349A>T (p.Gly783=) rs863224799
NM_032043.2(BRIP1):c.2350A>G (p.Ile784Val)
NM_032043.2(BRIP1):c.2365G>T (p.Val789Leu) rs876661097
NM_032043.2(BRIP1):c.2366T>C (p.Val789Ala) rs1060501728
NM_032043.2(BRIP1):c.2370A>G (p.Lys790=) rs372122365
NM_032043.2(BRIP1):c.2372A>G (p.Asp791Gly) rs876658934
NM_032043.2(BRIP1):c.2372A>T (p.Asp791Val) rs876658934
NM_032043.2(BRIP1):c.2373T>A (p.Asp791Glu) rs876659615
NM_032043.2(BRIP1):c.2380-3T>A rs587782542
NM_032043.2(BRIP1):c.2380G>T (p.Val794Phe) rs1261005517
NM_032043.2(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622
NM_032043.2(BRIP1):c.2393G>A (p.Arg798Gln) rs375082407
NM_032043.2(BRIP1):c.2398T>C (p.Tyr800His) rs1305107535
NM_032043.2(BRIP1):c.2402A>G (p.Asn801Ser) rs1325317591
NM_032043.2(BRIP1):c.2405A>G (p.Asp802Gly) rs876660273
NM_032043.2(BRIP1):c.2411A>G (p.His804Arg)
NM_032043.2(BRIP1):c.2426G>T (p.Gly809Val) rs1555580886
NM_032043.2(BRIP1):c.2428C>G (p.Leu810Val) rs587780238
NM_032043.2(BRIP1):c.2435C>T (p.Pro812Leu) rs876659410
NM_032043.2(BRIP1):c.2440C>G (p.Arg814Gly) rs201869624
NM_032043.2(BRIP1):c.2441G>A (p.Arg814His) rs45468199
NM_032043.2(BRIP1):c.2452G>A (p.Glu818Lys) rs1555580819
NM_032043.2(BRIP1):c.2460A>G (p.Gln820=) rs1555580812
NM_032043.2(BRIP1):c.2462C>T (p.Ala821Val) rs876658697
NM_032043.2(BRIP1):c.2464T>C (p.Tyr822His) rs760887592
NM_032043.2(BRIP1):c.2469G>T (p.Arg823Ser) rs587780239
NM_032043.2(BRIP1):c.2477A>G (p.Asn826Ser) rs760127237
NM_032043.2(BRIP1):c.2478C>G (p.Asn826Lys)
NM_032043.2(BRIP1):c.2492+3A>C rs1555580758
NM_032043.2(BRIP1):c.2492+5G>A rs763222019
NM_032043.2(BRIP1):c.2492+5G>C rs763222019
NM_032043.2(BRIP1):c.2492G>A (p.Arg831Lys) rs771382903
NM_032043.2(BRIP1):c.2494T>G (p.Cys832Gly) rs768222842
NM_032043.2(BRIP1):c.2498T>C (p.Ile833Thr) rs876660936
NM_032043.2(BRIP1):c.2505C>G (p.His835Gln) rs775547651
NM_032043.2(BRIP1):c.2507G>T (p.Arg836Ile) rs1060501736
NM_032043.2(BRIP1):c.2510A>G (p.Asn837Ser) rs1555574810
NM_032043.2(BRIP1):c.2513A>T (p.Asp838Val) rs1567737801
NM_032043.2(BRIP1):c.2515T>A (p.Trp839Arg) rs1555574807
NM_032043.2(BRIP1):c.2515T>G (p.Trp839Gly)
NM_032043.2(BRIP1):c.2521G>A (p.Ala841Thr) rs1555574790
NM_032043.2(BRIP1):c.2524C>G (p.Leu842Val) rs786201802
NM_032043.2(BRIP1):c.2525T>C (p.Leu842Pro) rs1060501751
NM_032043.2(BRIP1):c.2528T>C (p.Ile843Thr) rs996693020
NM_032043.2(BRIP1):c.2535G>A (p.Val845=) rs1555574772
NM_032043.2(BRIP1):c.2536G>C (p.Asp846His) rs876659409
NM_032043.2(BRIP1):c.2539G>A (p.Asp847Asn) rs876659013
NM_032043.2(BRIP1):c.2542C>G (p.Arg848Gly) rs45572934
NM_032043.2(BRIP1):c.2542C>T (p.Arg848Cys) rs45572934
NM_032043.2(BRIP1):c.2543G>A (p.Arg848His) rs374334794
NM_032043.2(BRIP1):c.254C>T (p.Ser85Leu) rs587781830
NM_032043.2(BRIP1):c.2554A>G (p.Asn852Asp) rs745782331
NM_032043.2(BRIP1):c.2558C>G (p.Pro853Arg) rs1060501775
NM_032043.2(BRIP1):c.2558C>T (p.Pro853Leu) rs1060501775
NM_032043.2(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731
NM_032043.2(BRIP1):c.2564G>A (p.Arg855His) rs200894063
NM_032043.2(BRIP1):c.2564G>T (p.Arg855Leu) rs200894063
NM_032043.2(BRIP1):c.2567A>G (p.Tyr856Cys) rs781556845
NM_032043.2(BRIP1):c.2569A>G (p.Ile857Val)
NM_032043.2(BRIP1):c.256T>C (p.Cys86Arg) rs1555617900
NM_032043.2(BRIP1):c.256_258TGT[2] (p.Cys88del) rs587781388
NM_032043.2(BRIP1):c.2571A>G (p.Ile857Met)
NM_032043.2(BRIP1):c.2574T>C (p.Ser858=) rs1555574712
NM_032043.2(BRIP1):c.2575+4A>G
NM_032043.2(BRIP1):c.2575+6A>G
NM_032043.2(BRIP1):c.2578C>T (p.Leu860Phe) rs1555573507
NM_032043.2(BRIP1):c.2579T>C (p.Leu860Pro) rs587780242
NM_032043.2(BRIP1):c.2581T>C (p.Ser861Pro) rs1567732145
NM_032043.2(BRIP1):c.2582C>G (p.Ser861Cys) rs774415723
NM_032043.2(BRIP1):c.2584A>G (p.Lys862Glu)
NM_032043.2(BRIP1):c.2587T>C (p.Trp863Arg) rs876660452
NM_032043.2(BRIP1):c.258_269del (p.Cys87_Cys90del) rs730881648
NM_032043.2(BRIP1):c.2590G>A (p.Val864Ile) rs149529390
NM_032043.2(BRIP1):c.2591T>C (p.Val864Ala)
NM_032043.2(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079
NM_032043.2(BRIP1):c.2594G>A (p.Arg865Gln) rs781609846
NM_032043.2(BRIP1):c.2597A>T (p.Gln866Leu)
NM_032043.2(BRIP1):c.259T>A (p.Cys87Ser) rs1555617897
NM_032043.2(BRIP1):c.2605C>G (p.Gln869Glu) rs1060501766
NM_032043.2(BRIP1):c.2606A>G (p.Gln869Arg) rs1060501733
NM_032043.2(BRIP1):c.2617A>G (p.Thr873Ala) rs758444508
NM_032043.2(BRIP1):c.2623G>C (p.Glu875Gln) rs876659099
NM_032043.2(BRIP1):c.2626A>G (p.Ser876Gly) rs1555573469
NM_032043.2(BRIP1):c.2628T>G (p.Ser876Arg) rs1032574757
NM_032043.2(BRIP1):c.2629G>C (p.Ala877Pro) rs1567731966
NM_032043.2(BRIP1):c.262T>G (p.Cys88Gly) rs1555617890
NM_032043.2(BRIP1):c.2630C>T (p.Ala877Val) rs1555573465
NM_032043.2(BRIP1):c.2635G>A (p.Glu879Lys) rs1391013628
NM_032043.2(BRIP1):c.265G>A (p.Ala89Thr) rs1555617884
NM_032043.2(BRIP1):c.2662C>T (p.His888Tyr) rs757668121
NM_032043.2(BRIP1):c.2686A>C (p.Ile896Leu) rs764406913
NM_032043.2(BRIP1):c.2686A>G (p.Ile896Val) rs764406913
NM_032043.2(BRIP1):c.2691G>A (p.Lys897=) rs1555573425
NM_032043.2(BRIP1):c.2697A>C (p.Arg899Ser)
NM_032043.2(BRIP1):c.2699C>A (p.Thr900Asn)
NM_032043.2(BRIP1):c.2705T>C (p.Ile902Thr) rs1060501781
NM_032043.2(BRIP1):c.2706A>G (p.Ile902Met) rs587780244
NM_032043.2(BRIP1):c.2707C>A (p.Gln903Lys)
NM_032043.2(BRIP1):c.2710G>A (p.Asp904Asn) rs1555573413
NM_032043.2(BRIP1):c.2714A>G (p.Asn905Ser) rs1555573412
NM_032043.2(BRIP1):c.2723C>T (p.Thr908Ile) rs786201919
NM_032043.2(BRIP1):c.2726T>C (p.Leu909Pro) rs770966270
NM_032043.2(BRIP1):c.2726T>G (p.Leu909Arg) rs770966270
NM_032043.2(BRIP1):c.2728G>A (p.Glu910Lys)
NM_032043.2(BRIP1):c.2728G>C (p.Glu910Gln) rs1007808618
NM_032043.2(BRIP1):c.2729A>G (p.Glu910Gly)
NM_032043.2(BRIP1):c.2741T>C (p.Leu914Ser) rs886053215
NM_032043.2(BRIP1):c.2752A>G (p.Thr918Ala) rs1060501759
NM_032043.2(BRIP1):c.2770G>A (p.Glu924Lys) rs1555573342
NM_032043.2(BRIP1):c.2776G>A (p.Ala926Thr)
NM_032043.2(BRIP1):c.2791C>T (p.Pro931Ser)
NM_032043.2(BRIP1):c.2800T>G (p.Phe934Val) rs863224801
NM_032043.2(BRIP1):c.2801T>C (p.Phe934Ser) rs778916092
NM_032043.2(BRIP1):c.2802T>G (p.Phe934Leu) rs1259968679
NM_032043.2(BRIP1):c.2804T>G (p.Val935Gly) rs4988356
NM_032043.2(BRIP1):c.2806G>A (p.Glu936Lys)
NM_032043.2(BRIP1):c.2807A>G (p.Glu936Gly)
NM_032043.2(BRIP1):c.2807A>T (p.Glu936Val) rs878855149
NM_032043.2(BRIP1):c.2812G>A (p.Glu938Lys) rs199643061
NM_032043.2(BRIP1):c.2816C>G (p.Ala939Gly) rs756490117
NM_032043.2(BRIP1):c.2824T>C (p.Cys942Arg) rs1567731308
NM_032043.2(BRIP1):c.2827G>C (p.Val943Leu) rs1401830781
NM_032043.2(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356
NM_032043.2(BRIP1):c.2831A>C (p.Gln944Pro)
NM_032043.2(BRIP1):c.2831A>G (p.Gln944Arg) rs148232408
NM_032043.2(BRIP1):c.2833G>A (p.Glu945Lys)
NM_032043.2(BRIP1):c.2833G>C (p.Glu945Gln) rs863224802
NM_032043.2(BRIP1):c.2836C>A (p.Leu946Ile)
NM_032043.2(BRIP1):c.2840A>G (p.Gln947Arg) rs876659756
NM_032043.2(BRIP1):c.2850A>C (p.Lys950Asn)
NM_032043.2(BRIP1):c.2854A>G (p.Ile952Val) rs200239986
NM_032043.2(BRIP1):c.2855T>G (p.Ile952Ser) rs1060501735
NM_032043.2(BRIP1):c.2863A>C (p.Asn955His) rs587782244
NM_032043.2(BRIP1):c.2863A>G (p.Asn955Asp) rs587782244
NM_032043.2(BRIP1):c.2870C>T (p.Pro957Leu) rs786203077
NM_032043.2(BRIP1):c.2873T>A (p.Leu958Gln) rs145859791
NM_032043.2(BRIP1):c.2876C>G (p.Pro959Arg) rs1567731036
NM_032043.2(BRIP1):c.2878A>G (p.Ser960Gly)
NM_032043.2(BRIP1):c.2882G>A (p.Ser961Asn) rs1060501732
NM_032043.2(BRIP1):c.2884A>G (p.Ile962Val)
NM_032043.2(BRIP1):c.2885T>C (p.Ile962Thr) rs786201632
NM_032043.2(BRIP1):c.2899G>A (p.Glu967Lys) rs1305928655
NM_032043.2(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679
NM_032043.2(BRIP1):c.2905+4T>A rs373835270
NM_032043.2(BRIP1):c.2905+4T>C rs373835270
NM_032043.2(BRIP1):c.2906-3T>G
NM_032043.2(BRIP1):c.2908G>A (p.Asp970Asn) rs1555572994
NM_032043.2(BRIP1):c.2914G>A (p.Val972Ile) rs786203224
NM_032043.2(BRIP1):c.2917T>A (p.Phe973Ile) rs1060501727
NM_032043.2(BRIP1):c.2929G>T (p.Ala977Ser)
NM_032043.2(BRIP1):c.2930C>T (p.Ala977Val)
NM_032043.2(BRIP1):c.2935A>G (p.Lys979Glu) rs730881627
NM_032043.2(BRIP1):c.293A>G (p.Asn98Ser) rs781121675
NM_032043.2(BRIP1):c.2948T>A (p.Ile983Asn) rs587781417
NM_032043.2(BRIP1):c.294T>G (p.Asn98Lys) rs1555617859
NM_032043.2(BRIP1):c.2957C>G (p.Ser986Cys) rs182087528
NM_032043.2(BRIP1):c.2963C>T (p.Ser988Phe) rs758032378
NM_032043.2(BRIP1):c.2979C>G (p.Phe993Leu) rs1060501756
NM_032043.2(BRIP1):c.297C>G (p.Asp99Glu)
NM_032043.2(BRIP1):c.2987A>G (p.Gln996Arg)
NM_032043.2(BRIP1):c.2990C>T (p.Thr997Ile) rs749978235
NM_032043.2(BRIP1):c.2994G>C (p.Lys998Asn) rs757225144
NM_032043.2(BRIP1):c.2996G>T (p.Arg999Ile)
NM_032043.2(BRIP1):c.299T>C (p.Met100Thr) rs587782427
NM_032043.2(BRIP1):c.3020C>A (p.Ser1007Tyr) rs886053214
NM_032043.2(BRIP1):c.3025G>A (p.Gly1009Arg) rs587781328
NM_032043.2(BRIP1):c.3026G>A (p.Gly1009Glu) rs1555572908
NM_032043.2(BRIP1):c.3031T>C (p.Tyr1011His) rs1567729362
NM_032043.2(BRIP1):c.3037A>G (p.Thr1013Ala) rs1278002478
NM_032043.2(BRIP1):c.3038C>T (p.Thr1013Ile) rs1372474933
NM_032043.2(BRIP1):c.3044A>G (p.Lys1015Arg) rs1006002613
NM_032043.2(BRIP1):c.3050C>T (p.Pro1017Leu) rs747907706
NM_032043.2(BRIP1):c.3058A>G (p.Thr1020Ala) rs1064793073
NM_032043.2(BRIP1):c.305A>G (p.Gln102Arg) rs1484234707
NM_032043.2(BRIP1):c.3064G>A (p.Glu1022Lys) rs587782808
NM_032043.2(BRIP1):c.3064G>C (p.Glu1022Gln) rs587782808
NM_032043.2(BRIP1):c.3070G>A (p.Gly1024Arg) rs147119272
NM_032043.2(BRIP1):c.3071G>T (p.Gly1024Val) rs587781744
NM_032043.2(BRIP1):c.307G>A (p.Gly103Arg) rs777068696
NM_032043.2(BRIP1):c.3083A>C (p.Asn1028Thr)
NM_032043.2(BRIP1):c.3083A>G (p.Asn1028Ser) rs1060501762
NM_032043.2(BRIP1):c.3084T>G (p.Asn1028Lys) rs1424179519
NM_032043.2(BRIP1):c.3088_3096dup (p.Ala1030_Ser1032dup) rs1187782159
NM_032043.2(BRIP1):c.3096T>G (p.Ser1032Arg) rs763162379
NM_032043.2(BRIP1):c.3100C>A (p.Pro1034Thr) rs765416041
NM_032043.2(BRIP1):c.3101C>T (p.Pro1034Leu)
NM_032043.2(BRIP1):c.3104G>A (p.Arg1035His) rs367816363
NM_032043.2(BRIP1):c.3118A>C (p.Lys1040Gln) rs876659428
NM_032043.2(BRIP1):c.3122T>C (p.Met1041Thr) rs761225576
NM_032043.2(BRIP1):c.3128G>A (p.Ser1043Asn) rs1555572825
NM_032043.2(BRIP1):c.3136G>A (p.Val1046Ile) rs1555572824
NM_032043.2(BRIP1):c.3136G>C (p.Val1046Leu)
NM_032043.2(BRIP1):c.3140T>C (p.Leu1047Ser) rs786203344
NM_032043.2(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333
NM_032043.2(BRIP1):c.316C>A (p.Arg106Ser) rs587780247
NM_032043.2(BRIP1):c.316C>T (p.Arg106Cys) rs587780247
NM_032043.2(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505
NM_032043.2(BRIP1):c.3181A>G (p.Asn1061Asp)
NM_032043.2(BRIP1):c.3188C>T (p.Ser1063Leu) rs575998972
NM_032043.2(BRIP1):c.3191T>C (p.Phe1064Ser) rs916937983
NM_032043.2(BRIP1):c.3199T>A (p.Cys1067Ser) rs878855153
NM_032043.2(BRIP1):c.3207A>G (p.Gln1069=) rs1555572778
NM_032043.2(BRIP1):c.3224C>T (p.Ser1075Leu) rs183928474
NM_032043.2(BRIP1):c.3227C>T (p.Ser1076Leu) rs864622113
NM_032043.2(BRIP1):c.3233A>C (p.Lys1078Thr)
NM_032043.2(BRIP1):c.3236T>C (p.Ile1079Thr) rs150813402
NM_032043.2(BRIP1):c.3237T>G (p.Ile1079Met) rs587781666
NM_032043.2(BRIP1):c.3254G>C (p.Arg1085Thr) rs1567728589
NM_032043.2(BRIP1):c.3260A>G (p.Asn1087Ser) rs786202024
NM_032043.2(BRIP1):c.3262C>T (p.His1088Tyr) rs878855154
NM_032043.2(BRIP1):c.3266C>T (p.Ser1089Phe) rs761278503
NM_032043.2(BRIP1):c.326A>G (p.Asn109Ser) rs587782734
NM_032043.2(BRIP1):c.3272A>G (p.His1091Arg) rs776129117
NM_032043.2(BRIP1):c.3274C>T (p.Pro1092Ser) rs768065626
NM_032043.2(BRIP1):c.3275C>A (p.Pro1092Gln) rs587780830
NM_032043.2(BRIP1):c.3275C>T (p.Pro1092Leu) rs587780830
NM_032043.2(BRIP1):c.3277C>G (p.Leu1093Val)
NM_032043.2(BRIP1):c.3277delinsTTCAGAA (p.Leu1093delinsPheArgIle) rs1555572724
NM_032043.2(BRIP1):c.328T>C (p.Tyr110His) rs1555617821
NM_032043.2(BRIP1):c.328_333dup (p.Tyr110_Pro111dup) rs1423363607
NM_032043.2(BRIP1):c.3290A>C (p.Glu1097Ala) rs876658746
NM_032043.2(BRIP1):c.3290A>G (p.Glu1097Gly) rs876658746
NM_032043.2(BRIP1):c.3296T>G (p.Leu1099Arg) rs772709195
NM_032043.2(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923
NM_032043.2(BRIP1):c.3305A>G (p.Asp1102Gly) rs748140041
NM_032043.2(BRIP1):c.3307A>G (p.Ile1103Val) rs1555572700
NM_032043.2(BRIP1):c.3308T>A (p.Ile1103Asn) rs781102464
NM_032043.2(BRIP1):c.3322G>A (p.Val1108Ile) rs1275343223
NM_032043.2(BRIP1):c.3329A>G (p.Glu1110Gly) rs1060501742
NM_032043.2(BRIP1):c.332C>A (p.Pro111Gln) rs201790351
NM_032043.2(BRIP1):c.3331G>C (p.Glu1111Gln) rs587780248
NM_032043.2(BRIP1):c.3334G>A (p.Asp1112Asn) rs968860042
NM_032043.2(BRIP1):c.3334G>T (p.Asp1112Tyr) rs968860042
NM_032043.2(BRIP1):c.3336T>A (p.Asp1112Glu) rs369843642
NM_032043.2(BRIP1):c.3343T>C (p.Ser1115Pro) rs1567728281
NM_032043.2(BRIP1):c.3344C>G (p.Ser1115Cys) rs1419933310
NM_032043.2(BRIP1):c.3344C>T (p.Ser1115Phe) rs1419933310
NM_032043.2(BRIP1):c.3349T>G (p.Ser1117Ala) rs779860140
NM_032043.2(BRIP1):c.3350C>T (p.Ser1117Leu) rs1555572672
NM_032043.2(BRIP1):c.3353A>G (p.Asn1118Ser) rs1060501773
NM_032043.2(BRIP1):c.3358G>A (p.Asp1120Asn) rs1555572663
NM_032043.2(BRIP1):c.335G>A (p.Ser112Asn) rs1555617813
NM_032043.2(BRIP1):c.3367A>G (p.Thr1123Ala) rs754056526
NM_032043.2(BRIP1):c.3371A>G (p.Glu1124Gly) rs1064793894
NM_032043.2(BRIP1):c.3374_3376del (p.Ala1125del) rs745344948
NM_032043.2(BRIP1):c.3382G>A (p.Glu1128Lys)
NM_032043.2(BRIP1):c.3388A>G (p.Ile1130Val) rs786202549
NM_032043.2(BRIP1):c.3389T>C (p.Ile1130Thr) rs1057522432
NM_032043.2(BRIP1):c.338C>T (p.Thr113Ile) rs778480809
NM_032043.2(BRIP1):c.3398C>T (p.Thr1133Ile) rs1555572645
NM_032043.2(BRIP1):c.3404_3405insCAG (p.Glu1135delinsAspArg)
NM_032043.2(BRIP1):c.3406C>T (p.Leu1136Phe) rs1555572626
NM_032043.2(BRIP1):c.3411_3412delinsCC (p.Asp1138His) rs1555572620
NM_032043.2(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr) rs1555572620
NM_032043.2(BRIP1):c.3412G>A (p.Asp1138Asn) rs587780249
NM_032043.2(BRIP1):c.3413A>G (p.Asp1138Gly) rs1057518847
NM_032043.2(BRIP1):c.3416C>T (p.Pro1139Leu) rs1555572613
NM_032043.2(BRIP1):c.341C>A (p.Pro114Gln) rs876658965
NM_032043.2(BRIP1):c.3422A>C (p.Asp1141Ala)
NM_032043.2(BRIP1):c.3422A>T (p.Asp1141Val) rs1034551306
NM_032043.2(BRIP1):c.3431A>G (p.Glu1144Gly) rs774605759
NM_032043.2(BRIP1):c.3436A>G (p.Lys1146Glu) rs786202247
NM_032043.2(BRIP1):c.3437A>G (p.Lys1146Arg) rs1567727955
NM_032043.2(BRIP1):c.343C>T (p.Pro115Ser) rs876659142
NM_032043.2(BRIP1):c.3440dup (p.Asn1147fs) rs753683450
NM_032043.2(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573
NM_032043.2(BRIP1):c.3451G>A (p.Glu1151Lys) rs1555572587
NM_032043.2(BRIP1):c.3458A>G (p.Asp1153Gly)
NM_032043.2(BRIP1):c.3461G>C (p.Arg1154Thr) rs1057522433
NM_032043.2(BRIP1):c.3464G>A (p.Gly1155Glu) rs45603843
NM_032043.2(BRIP1):c.3475G>A (p.Ala1159Thr) rs368610199
NM_032043.2(BRIP1):c.347C>G (p.Ser116Cys) rs748793974
NM_032043.2(BRIP1):c.347C>T (p.Ser116Phe)
NM_032043.2(BRIP1):c.3493A>C (p.Ile1165Leu) rs771889454
NM_032043.2(BRIP1):c.3503A>C (p.Lys1168Thr) rs749589266
NM_032043.2(BRIP1):c.3505G>T (p.Asp1169Tyr) rs587782029
NM_032043.2(BRIP1):c.3507C>A (p.Asp1169Glu) rs375741316
NM_032043.2(BRIP1):c.3508C>G (p.Leu1170Val) rs587782552
NM_032043.2(BRIP1):c.3512T>C (p.Phe1171Ser) rs878855155
NM_032043.2(BRIP1):c.3523A>G (p.Thr1175Ala) rs372799558
NM_032043.2(BRIP1):c.3525dup (p.Ile1176fs) rs777367075
NM_032043.2(BRIP1):c.3529A>C (p.Lys1177Gln)
NM_032043.2(BRIP1):c.3530_3532AAG[1] (p.Glu1178del) rs1567727749
NM_032043.2(BRIP1):c.3532G>A (p.Glu1178Lys) rs876661115
NM_032043.2(BRIP1):c.3532G>C (p.Glu1178Gln)
NM_032043.2(BRIP1):c.3533A>T (p.Glu1178Val) rs752850661
NM_032043.2(BRIP1):c.3544G>A (p.Ala1182Thr) rs1555572535
NM_032043.2(BRIP1):c.3553G>C (p.Val1185Leu) rs1567727691
NM_032043.2(BRIP1):c.3553G>T (p.Val1185Leu) rs1567727691
NM_032043.2(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893
NM_032043.2(BRIP1):c.3560C>T (p.Ala1187Val)
NM_032043.2(BRIP1):c.356A>G (p.Asn119Ser) rs889877039
NM_032043.2(BRIP1):c.3571A>G (p.Ile1191Val) rs761405340
NM_032043.2(BRIP1):c.357T>A (p.Asn119Lys) rs786202477
NM_032043.2(BRIP1):c.3590G>A (p.Gly1197Glu) rs587781677
NM_032043.2(BRIP1):c.3594T>G (p.Ile1198Met)
NM_032043.2(BRIP1):c.3599delinsTT (p.His1200fs) rs1555572516
NM_032043.2(BRIP1):c.359G>A (p.Gly120Asp) rs730881637
NM_032043.2(BRIP1):c.3605A>C (p.Glu1202Ala)
NM_032043.2(BRIP1):c.3605A>G (p.Glu1202Gly) rs776010326
NM_032043.2(BRIP1):c.360C>T (p.Gly120=) rs1060501730
NM_032043.2(BRIP1):c.361A>G (p.Thr121Ala) rs1567874478
NM_032043.2(BRIP1):c.3622G>A (p.Asp1208Asn) rs760589795
NM_032043.2(BRIP1):c.3622G>C (p.Asp1208His) rs760589795
NM_032043.2(BRIP1):c.3629_3631del (p.Asp1210del) rs1064794200
NM_032043.2(BRIP1):c.362C>G (p.Thr121Ser) rs777630298
NM_032043.2(BRIP1):c.3631G>A (p.Gly1211Ser) rs1567727439
NM_032043.2(BRIP1):c.3647C>T (p.Thr1216Ile) rs1567727417
NM_032043.2(BRIP1):c.364T>G (p.Ser122Ala) rs1555617788
NM_032043.2(BRIP1):c.3651G>A (p.Trp1217Ter) rs542698396
NM_032043.2(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.2(BRIP1):c.3655A>C (p.Asn1219His) rs1567727404
NM_032043.2(BRIP1):c.3658G>T (p.Glu1220Ter) rs1555572476
NM_032043.2(BRIP1):c.3664dup (p.Glu1222fs) rs752586524
NM_032043.2(BRIP1):c.3665A>T (p.Glu1222Val)
NM_032043.2(BRIP1):c.3676A>C (p.Thr1226Pro) rs781140410
NM_032043.2(BRIP1):c.3680A>G (p.His1227Arg) rs755069935
NM_032043.2(BRIP1):c.3686T>C (p.Ile1229Thr)
NM_032043.2(BRIP1):c.3691A>G (p.Ile1231Val) rs876659290
NM_032043.2(BRIP1):c.3692T>C (p.Ile1231Thr) rs780578438
NM_032043.2(BRIP1):c.3695A>G (p.Lys1232Arg) rs1555572446
NM_032043.2(BRIP1):c.3699C>A (p.Asn1233Lys) rs1060501734
NM_032043.2(BRIP1):c.3700T>C (p.Phe1234Leu) rs878855156
NM_032043.2(BRIP1):c.3701T>G (p.Phe1234Cys) rs587778137
NM_032043.2(BRIP1):c.3706C>T (p.Pro1236Ser) rs1060501771
NM_032043.2(BRIP1):c.370A>C (p.Thr124Pro) rs45617634
NM_032043.2(BRIP1):c.370A>G (p.Thr124Ala) rs45617634
NM_032043.2(BRIP1):c.3726_3730dup (p.Met1244fs) rs1491231712
NM_032043.2(BRIP1):c.3728G>A (p.Gly1243Asp) rs765545033
NM_032043.2(BRIP1):c.3728_3730delinsTCC (p.Gly1243_Met1244delinsValLeu) rs1555572426
NM_032043.2(BRIP1):c.3730_3731del (p.Met1244fs) rs730881646
NM_032043.2(BRIP1):c.3731_*5del (p.Met1244fs) rs1555572407
NM_032043.2(BRIP1):c.3732G>A (p.Met1244Ile)
NM_032043.2(BRIP1):c.3737C>T (p.Pro1246Leu) rs876660074
NM_032043.2(BRIP1):c.3743T>G (p.Phe1248Cys) rs763579793
NM_032043.2(BRIP1):c.3747_3750del (p.Lys1249fs) rs1555572410
NM_032043.2(BRIP1):c.374G>C (p.Cys125Ser) rs876660020
NM_032043.2(BRIP1):c.379+4_379+5delAT rs773332695
NM_032043.2(BRIP1):c.380-5A>G rs587782131
NM_032043.2(BRIP1):c.380A>G (p.Asp127Gly)
NM_032043.2(BRIP1):c.383C>T (p.Ser128Phe)
NM_032043.2(BRIP1):c.385C>T (p.Pro129Ser) rs1555616229
NM_032043.2(BRIP1):c.386C>T (p.Pro129Leu) rs587780831
NM_032043.2(BRIP1):c.394A>T (p.Thr132Ser) rs730881623
NM_032043.2(BRIP1):c.397A>G (p.Thr133Ala)
NM_032043.2(BRIP1):c.397A>T (p.Thr133Ser) rs764256720
NM_032043.2(BRIP1):c.400C>A (p.Leu134Met) rs876658195
NM_032043.2(BRIP1):c.409A>G (p.Lys137Glu) rs878855157
NM_032043.2(BRIP1):c.413T>C (p.Leu138Ser) rs587780251
NM_032043.2(BRIP1):c.415T>G (p.Ser139Ala) rs202072866
NM_032043.2(BRIP1):c.416C>T (p.Ser139Phe) rs1567868653
NM_032043.2(BRIP1):c.431C>A (p.Ala144Glu) rs1555616182
NM_032043.2(BRIP1):c.43A>G (p.Ile15Val) rs1567878177
NM_032043.2(BRIP1):c.446A>G (p.Asp149Gly)
NM_032043.2(BRIP1):c.452A>G (p.Asn151Ser) rs1555616165
NM_032043.2(BRIP1):c.465A>G (p.Gln155=) rs876659453
NM_032043.2(BRIP1):c.467T>C (p.Val156Ala) rs1567868429
NM_032043.2(BRIP1):c.473A>G (p.Lys158Arg)
NM_032043.2(BRIP1):c.481A>G (p.Ile161Val) rs786203916
NM_032043.2(BRIP1):c.485G>A (p.Arg162Gln) rs61757643
NM_032043.2(BRIP1):c.485G>T (p.Arg162Leu) rs61757643
NM_032043.2(BRIP1):c.487C>T (p.Pro163Ser) rs1064795902
NM_032043.2(BRIP1):c.495A>C (p.Glu165Asp) rs780024960
NM_032043.2(BRIP1):c.499A>G (p.Thr167Ala) rs1060501738
NM_032043.2(BRIP1):c.49T>C (p.Phe17Leu)
NM_032043.2(BRIP1):c.500C>T (p.Thr167Ile) rs758218234
NM_032043.2(BRIP1):c.502C>A (p.Gln168Lys) rs748211848
NM_032043.2(BRIP1):c.507G>A (p.Gln169=) rs876660937
NM_032043.2(BRIP1):c.507G>T (p.Gln169His) rs876660937
NM_032043.2(BRIP1):c.508A>G (p.Ile170Val)
NM_032043.2(BRIP1):c.514A>G (p.Lys172Glu) rs1060501765
NM_032043.2(BRIP1):c.518G>A (p.Arg173His) rs761432927
NM_032043.2(BRIP1):c.520C>T (p.His174Tyr) rs776248182
NM_032043.2(BRIP1):c.52C>T (p.Pro18Ser) rs1555618724
NM_032043.2(BRIP1):c.533C>T (p.Thr178Ile) rs876658780
NM_032043.2(BRIP1):c.537A>G (p.Glu179=) rs775509896
NM_032043.2(BRIP1):c.538G>A (p.Val180Ile)
NM_032043.2(BRIP1):c.550G>A (p.Asp184Asn) rs201047375
NM_032043.2(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375
NM_032043.2(BRIP1):c.553G>A (p.Ala185Thr) rs745645356
NM_032043.2(BRIP1):c.569G>A (p.Gly190Glu) rs756269682
NM_032043.2(BRIP1):c.56A>G (p.Tyr19Cys) rs876660880
NM_032043.2(BRIP1):c.588C>G (p.Asn196Lys)
NM_032043.2(BRIP1):c.590C>A (p.Ser197Tyr) rs533184563
NM_032043.2(BRIP1):c.590C>T (p.Ser197Phe) rs533184563
NM_032043.2(BRIP1):c.599A>G (p.Glu200Gly) rs1555615732
NM_032043.2(BRIP1):c.602A>G (p.Lys201Arg) rs1555615729
NM_032043.2(BRIP1):c.604A>G (p.Ile202Val) rs778275257
NM_032043.2(BRIP1):c.610T>G (p.Ser204Ala) rs761401027
NM_032043.2(BRIP1):c.611_613del (p.Ser204del) rs1060501731
NM_032043.2(BRIP1):c.617C>T (p.Ser206Leu) rs565458815
NM_032043.2(BRIP1):c.626A>G (p.Lys209Arg) rs748912293
NM_032043.2(BRIP1):c.627+3A>G rs777434654
NM_032043.2(BRIP1):c.627+5G>A rs745727200
NM_032043.2(BRIP1):c.627A>G (p.Lys209=) rs1555615717
NM_032043.2(BRIP1):c.628C>T (p.Pro210Ser) rs150313156
NM_032043.2(BRIP1):c.629C>A (p.Pro210His) rs140097800
NM_032043.2(BRIP1):c.629C>T (p.Pro210Leu) rs140097800
NM_032043.2(BRIP1):c.62C>A (p.Ala21Asp)
NM_032043.2(BRIP1):c.632C>T (p.Pro211Leu) rs780026145
NM_032043.2(BRIP1):c.638A>C (p.His213Pro)
NM_032043.2(BRIP1):c.638A>G (p.His213Arg) rs376760085
NM_032043.2(BRIP1):c.641G>C (p.Cys214Ser) rs779409059
NM_032043.2(BRIP1):c.644C>T (p.Ser215Phe) rs12947398
NM_032043.2(BRIP1):c.650G>T (p.Cys217Phe) rs587782156
NM_032043.2(BRIP1):c.653G>A (p.Cys218Tyr) rs754242563
NM_032043.2(BRIP1):c.653_655GTT[1] (p.Cys219del) rs1555609353
NM_032043.2(BRIP1):c.655T>C (p.Cys219Arg) rs730881630
NM_032043.2(BRIP1):c.661A>G (p.Thr221Ala) rs777618772
NM_032043.2(BRIP1):c.662C>G (p.Thr221Ser)
NM_032043.2(BRIP1):c.670G>C (p.Gly224Arg) rs1567838486
NM_032043.2(BRIP1):c.671G>C (p.Gly224Ala) rs990737815
NM_032043.2(BRIP1):c.679C>G (p.Gln227Glu) rs45459799
NM_032043.2(BRIP1):c.695C>G (p.Thr232Ser)
NM_032043.2(BRIP1):c.697A>G (p.Ile233Val) rs769535320
NM_032043.2(BRIP1):c.700A>G (p.Lys234Glu) rs1060501780
NM_032043.2(BRIP1):c.700_702AAG[1] (p.Lys235del) rs876659379
NM_032043.2(BRIP1):c.701A>C (p.Lys234Thr)
NM_032043.2(BRIP1):c.706G>C (p.Asp236His) rs1555609300
NM_032043.2(BRIP1):c.707A>T (p.Asp236Val) rs1567838306
NM_032043.2(BRIP1):c.712A>C (p.Thr238Pro) rs1490001091
NM_032043.2(BRIP1):c.712A>G (p.Thr238Ala) rs1490001091
NM_032043.2(BRIP1):c.719A>T (p.Lys240Ile)
NM_032043.2(BRIP1):c.71C>T (p.Ser24Leu) rs1567878087
NM_032043.2(BRIP1):c.725A>G (p.Lys242Arg) rs876660647
NM_032043.2(BRIP1):c.728T>C (p.Ile243Thr) rs587781860
NM_032043.2(BRIP1):c.730_738del (p.Pro244_Ile246del)
NM_032043.2(BRIP1):c.736A>G (p.Ile246Val) rs376893571
NM_032043.2(BRIP1):c.749C>G (p.Thr250Arg) rs1555609275
NM_032043.2(BRIP1):c.751C>T (p.Arg251Cys) rs752309409
NM_032043.2(BRIP1):c.752G>A (p.Arg251His) rs780834054
NM_032043.2(BRIP1):c.752G>C (p.Arg251Pro) rs780834054
NM_032043.2(BRIP1):c.755C>T (p.Thr252Ile) rs1567838124
NM_032043.2(BRIP1):c.764A>G (p.Gln255Arg) rs1567838107
NM_032043.2(BRIP1):c.769_777dup (p.Ala257_Ile259dup)
NM_032043.2(BRIP1):c.773A>C (p.Gln258Pro) rs1567838078
NM_032043.2(BRIP1):c.778A>G (p.Thr260Ala) rs138743097
NM_032043.2(BRIP1):c.77T>C (p.Leu26Pro)
NM_032043.2(BRIP1):c.785A>C (p.Glu262Ala) rs876658283
NM_032043.2(BRIP1):c.787C>T (p.Leu263Phe) rs1060501776
NM_032043.2(BRIP1):c.790C>G (p.Arg264Gly) rs28997569
NM_032043.2(BRIP1):c.791G>A (p.Arg264Gln) rs758360637
NM_032043.2(BRIP1):c.795G>T (p.Arg265Ser)
NM_032043.2(BRIP1):c.797C>T (p.Thr266Met) rs550031006
NM_032043.2(BRIP1):c.799G>A (p.Ala267Thr) rs865910081
NM_032043.2(BRIP1):c.808G>T (p.Gly270Trp) rs1401241698
NM_032043.2(BRIP1):c.817A>C (p.Met273Leu) rs587781797
NM_032043.2(BRIP1):c.820A>G (p.Thr274Ala) rs62620988
NM_032043.2(BRIP1):c.823A>G (p.Ile275Val) rs587781425
NM_032043.2(BRIP1):c.82A>G (p.Met28Val) rs1330147176
NM_032043.2(BRIP1):c.82A>T (p.Met28Leu) rs1330147176
NM_032043.2(BRIP1):c.832A>C (p.Ser278Arg) rs1567837876
NM_032043.2(BRIP1):c.834C>T (p.Ser278=) rs1060501725
NM_032043.2(BRIP1):c.837G>T (p.Arg279Ser) rs759584091
NM_032043.2(BRIP1):c.841C>A (p.His281Asn) rs1064795442
NM_032043.2(BRIP1):c.842A>C (p.His281Pro)
NM_032043.2(BRIP1):c.845C>G (p.Thr282Ser) rs45624635
NM_032043.2(BRIP1):c.845C>T (p.Thr282Ile) rs45624635
NM_032043.2(BRIP1):c.848G>T (p.Cys283Phe) rs771096783
NM_032043.2(BRIP1):c.854A>G (p.His285Arg) rs141055990
NM_032043.2(BRIP1):c.859G>A (p.Glu287Lys)
NM_032043.2(BRIP1):c.865G>A (p.Val289Ile) rs1567837768
NM_032043.2(BRIP1):c.868G>A (p.Gly290Ser) rs145601931
NM_032043.2(BRIP1):c.869G>A (p.Gly290Asp) rs148556781
NM_032043.2(BRIP1):c.878A>G (p.Asn293Ser) rs746599076
NM_032043.2(BRIP1):c.87G>T (p.Met29Ile) rs769585673
NM_032043.2(BRIP1):c.886G>A (p.Glu296Lys)
NM_032043.2(BRIP1):c.886G>C (p.Glu296Gln) rs876660125
NM_032043.2(BRIP1):c.887A>C (p.Glu296Ala)
NM_032043.2(BRIP1):c.887A>G (p.Glu296Gly) rs878855158
NM_032043.2(BRIP1):c.888G>C (p.Glu296Asp) rs876658249
NM_032043.2(BRIP1):c.890A>C (p.Lys297Thr) rs28997570
NM_032043.2(BRIP1):c.897G>A (p.Met299Ile) rs137852985
NM_032043.2(BRIP1):c.910G>A (p.Gly304Arg) rs1567837588
NM_032043.2(BRIP1):c.911G>A (p.Gly304Glu)
NM_032043.2(BRIP1):c.918C>T (p.Asn306=) rs876660724
NM_032043.2(BRIP1):c.920G>A (p.Gly307Glu)
NM_032043.2(BRIP1):c.93+4_93+7delAGTA rs1224034842
NM_032043.2(BRIP1):c.93+8T>G rs1567878012
NM_032043.2(BRIP1):c.931T>C (p.Tyr311His)
NM_032043.2(BRIP1):c.932A>G (p.Tyr311Cys) rs587782731
NM_032043.2(BRIP1):c.932A>T (p.Tyr311Phe) rs587782731
NM_032043.2(BRIP1):c.93T>C (p.Ser31=) rs1555618697
NM_032043.2(BRIP1):c.963T>A (p.Asp321Glu) rs1555607779
NM_032043.2(BRIP1):c.969C>A (p.His323Gln) rs1555607775
NM_032043.2(BRIP1):c.983T>C (p.Phe328Ser) rs876659057
NM_032043.2(BRIP1):c.991A>T (p.Met331Leu) rs1380876424
NM_032043.2(BRIP1):c.993G>A (p.Met331Ile) rs587780252
NM_032043.2(BRIP1):c.995G>A (p.Cys332Tyr) rs876660521
NM_032444.4(SLX4):c.1010C>T (p.Pro337Leu)
NM_032444.4(SLX4):c.1077G>T (p.Lys359Asn) rs149470704
NM_032444.4(SLX4):c.107A>T (p.Glu36Val) rs370082083
NM_032444.4(SLX4):c.1109C>T (p.Ala370Val) rs189224493
NM_032444.4(SLX4):c.1114C>T (p.Arg372Trp)
NM_032444.4(SLX4):c.112C>T (p.Leu38Phe) rs141167501
NM_032444.4(SLX4):c.1169G>T (p.Ser390Ile) rs775559576
NM_032444.4(SLX4):c.1192C>T (p.Arg398Trp) rs138799572
NM_032444.4(SLX4):c.1232G>A (p.Arg411Gln)
NM_032444.4(SLX4):c.1271C>T (p.Ala424Val) rs551823420
NM_032444.4(SLX4):c.1301C>T (p.Pro434Leu)
NM_032444.4(SLX4):c.1307C>T (p.Ala436Val) rs773539191
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845
NM_032444.4(SLX4):c.1379G>T (p.Arg460Leu)
NM_032444.4(SLX4):c.1394C>T (p.Pro465Leu) rs372128800
NM_032444.4(SLX4):c.1405C>G (p.Pro469Ala) rs763833617
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser) rs776189589
NM_032444.4(SLX4):c.1444C>G (p.Gln482Glu) rs1567174047
NM_032444.4(SLX4):c.1457G>A (p.Arg486His)
NM_032444.4(SLX4):c.145G>A (p.Glu49Lys) rs139757085
NM_032444.4(SLX4):c.1499C>T (p.Thr500Met) rs377440877
NM_032444.4(SLX4):c.1537T>C (p.Trp513Arg)
NM_032444.4(SLX4):c.1555T>C (p.Cys519Arg) rs746419738
NM_032444.4(SLX4):c.1702G>A (p.Val568Met)
NM_032444.4(SLX4):c.1748G>A (p.Arg583Lys)
NM_032444.4(SLX4):c.1786G>A (p.Gly596Ser)
NM_032444.4(SLX4):c.1805C>T (p.Pro602Leu)
NM_032444.4(SLX4):c.1824G>T (p.Glu608Asp)
NM_032444.4(SLX4):c.1841A>T (p.Asp614Val)
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val)
NM_032444.4(SLX4):c.1933G>A (p.Val645Met)
NM_032444.4(SLX4):c.1945G>A (p.Gly649Ser) rs780269002
NM_032444.4(SLX4):c.1964T>C (p.Phe655Ser) rs1567172921
NM_032444.4(SLX4):c.199A>G (p.Ile67Val) rs751802145
NM_032444.4(SLX4):c.2005C>T (p.Arg669Cys) rs375524355
NM_032444.4(SLX4):c.2006G>A (p.Arg669His) rs200807331
NM_032444.4(SLX4):c.2020C>T (p.Leu674Phe)
NM_032444.4(SLX4):c.2023G>A (p.Gly675Arg) rs767473953
NM_032444.4(SLX4):c.2023G>C (p.Gly675Arg) rs767473953
NM_032444.4(SLX4):c.2038G>C (p.Asp680His)
NM_032444.4(SLX4):c.2065C>T (p.His689Tyr) rs138124860
NM_032444.4(SLX4):c.2120A>G (p.Lys707Arg) rs1555450869
NM_032444.4(SLX4):c.2125G>A (p.Val709Met) rs151026877
NM_032444.4(SLX4):c.2150T>C (p.Leu717Pro)
NM_032444.4(SLX4):c.2153T>G (p.Ile718Ser) rs770015489
NM_032444.4(SLX4):c.2157G>T (p.Gln719His) rs768316000
NM_032444.4(SLX4):c.2197G>C (p.Val733Leu) rs1555450668
NM_032444.4(SLX4):c.2210G>A (p.Arg737His) rs146901714
NM_032444.4(SLX4):c.2231G>A (p.Ser744Asn) rs1307528536
NM_032444.4(SLX4):c.2242G>A (p.Ala748Thr)
NM_032444.4(SLX4):c.2249C>T (p.Thr750Met) rs145353518
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805
NM_032444.4(SLX4):c.2332G>C (p.Gly778Arg) rs142722925
NM_032444.4(SLX4):c.2347G>A (p.Val783Ile) rs771580450
NM_032444.4(SLX4):c.2381A>T (p.Asp794Val) rs201622632
NM_032444.4(SLX4):c.2425G>A (p.Glu809Lys)
NM_032444.4(SLX4):c.2449G>C (p.Glu817Gln) rs143730668
NM_032444.4(SLX4):c.247G>A (p.Gly83Ser)
NM_032444.4(SLX4):c.248G>C (p.Gly83Ala) rs771698977
NM_032444.4(SLX4):c.2513A>G (p.Asp838Gly) rs1060501794
NM_032444.4(SLX4):c.254A>G (p.Gln85Arg) rs878855160
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln) rs143558209
NM_032444.4(SLX4):c.2606G>C (p.Arg869Thr) rs779039237
NM_032444.4(SLX4):c.2620G>C (p.Gly874Arg)
NM_032444.4(SLX4):c.2629G>A (p.Ala877Thr) rs761296000
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu) rs147492092
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472
NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile) rs145533919
NM_032444.4(SLX4):c.2816G>C (p.Arg939Pro) rs768474876
NM_032444.4(SLX4):c.2851G>A (p.Glu951Lys) rs1555450353
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg) rs546628836
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr) rs753733757
NM_032444.4(SLX4):c.2998A>G (p.Ile1000Val)
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro) rs200842643
NM_032444.4(SLX4):c.3089C>T (p.Pro1030Leu) rs774562724
NM_032444.4(SLX4):c.3095C>T (p.Pro1032Leu) rs200924744
NM_032444.4(SLX4):c.3101G>A (p.Arg1034His) rs150453226
NM_032444.4(SLX4):c.3122A>T (p.Gln1041Leu)
NM_032444.4(SLX4):c.3124G>C (p.Gly1042Arg) rs750349545
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys)
NM_032444.4(SLX4):c.3179G>C (p.Arg1060Pro)
NM_032444.4(SLX4):c.3184C>T (p.Arg1062Cys)
NM_032444.4(SLX4):c.3235C>T (p.Pro1079Ser)
NM_032444.4(SLX4):c.3307C>T (p.Arg1103Cys)
NM_032444.4(SLX4):c.3310C>T (p.Arg1104Trp) rs752187463
NM_032444.4(SLX4):c.3350T>A (p.Phe1117Tyr)
NM_032444.4(SLX4):c.3353C>T (p.Pro1118Leu) rs1567170196
NM_032444.4(SLX4):c.3362C>T (p.Ser1121Phe) rs1060501792
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr) rs144647122
NM_032444.4(SLX4):c.3427T>G (p.Ser1143Ala) rs1567170136
NM_032444.4(SLX4):c.3451G>A (p.Val1151Ile) rs1060501796
NM_032444.4(SLX4):c.3470C>T (p.Ser1157Leu) rs769688259
NM_032444.4(SLX4):c.349G>T (p.Ala117Ser) rs775853263
NM_032444.4(SLX4):c.358A>G (p.Thr120Ala) rs1003342051
NM_032444.4(SLX4):c.3631G>A (p.Glu1211Lys)
NM_032444.4(SLX4):c.3648G>T (p.Gln1216His) rs139544666
NM_032444.4(SLX4):c.366G>C (p.Lys122Asn)
NM_032444.4(SLX4):c.3671A>T (p.Glu1224Val) rs566584111
NM_032444.4(SLX4):c.3673A>G (p.Asn1225Asp) rs878855161
NM_032444.4(SLX4):c.3677G>A (p.Arg1226Gln) rs748607152
NM_032444.4(SLX4):c.3683C>A (p.Ser1228Tyr) rs755523528
NM_032444.4(SLX4):c.3700G>T (p.Ala1234Ser) rs1555450127
NM_032444.4(SLX4):c.3706T>C (p.Trp1236Arg)
NM_032444.4(SLX4):c.3721C>T (p.Arg1241Cys) rs771835799
NM_032444.4(SLX4):c.3746G>A (p.Ser1249Asn)
NM_032444.4(SLX4):c.3751A>G (p.Thr1251Ala)
NM_032444.4(SLX4):c.3758C>T (p.Thr1253Ile) rs202148391
NM_032444.4(SLX4):c.3786G>A (p.Leu1262=) rs1555450110
NM_032444.4(SLX4):c.3863C>G (p.Thr1288Ser) rs1060501799
NM_032444.4(SLX4):c.3911T>G (p.Val1304Gly)
NM_032444.4(SLX4):c.3926C>T (p.Ser1309Phe) rs556682517
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys) rs142040192
NM_032444.4(SLX4):c.3948_3962dup (p.Pro1317_Pro1321dup) rs1302525912
NM_032444.4(SLX4):c.3958A>T (p.Thr1320Ser) rs1060501797
NM_032444.4(SLX4):c.3962C>T (p.Pro1321Leu) rs778781581
NM_032444.4(SLX4):c.4033C>T (p.Arg1345Cys) rs200310925
NM_032444.4(SLX4):c.4034G>A (p.Arg1345His) rs757202686
NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala) rs151144102
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn) rs142205392
NM_032444.4(SLX4):c.4069C>A (p.Leu1357Met)
NM_032444.4(SLX4):c.4079A>T (p.His1360Leu) rs1060501793
NM_032444.4(SLX4):c.4096C>T (p.Arg1366Cys) rs368434737
NM_032444.4(SLX4):c.4097G>A (p.Arg1366His) rs375108717
NM_032444.4(SLX4):c.4099G>A (p.Ala1367Thr) rs17136464
NM_032444.4(SLX4):c.4130C>T (p.Ser1377Leu) rs770241338
NM_032444.4(SLX4):c.4162C>G (p.Pro1388Ala) rs1457147753
NM_032444.4(SLX4):c.4186G>A (p.Gly1396Arg)
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.4229A>G (p.Asn1410Ser)
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe) rs141567438
NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val) rs953994627
NM_032444.4(SLX4):c.4301C>T (p.Ser1434Leu) rs776332160
NM_032444.4(SLX4):c.4333C>T (p.Arg1445Trp) rs777967898
NM_032444.4(SLX4):c.4366C>T (p.Arg1456Cys)
NM_032444.4(SLX4):c.4378G>A (p.Glu1460Lys)
NM_032444.4(SLX4):c.4387G>A (p.Asp1463Asn) rs779970904
NM_032444.4(SLX4):c.4403G>A (p.Arg1468His)
NM_032444.4(SLX4):c.4427C>G (p.Thr1476Ser) rs372321470
NM_032444.4(SLX4):c.4429C>T (p.Pro1477Ser) rs912385590
NM_032444.4(SLX4):c.4478C>T (p.Ser1493Leu) rs565491187
NM_032444.4(SLX4):c.4484C>T (p.Ala1495Val)
NM_032444.4(SLX4):c.4524G>A (p.Ser1508=)
NM_032444.4(SLX4):c.4590G>A (p.Met1530Ile) rs147315419
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys) rs144614070
NM_032444.4(SLX4):c.4750C>T (p.Arg1584Cys) rs560866356
NM_032444.4(SLX4):c.4765C>T (p.Arg1589Cys) rs181782315
NM_032444.4(SLX4):c.4836C>A (p.Asp1612Glu)
NM_032444.4(SLX4):c.4856C>T (p.Pro1619Leu) rs771200478
NM_032444.4(SLX4):c.485C>T (p.Thr162Met) rs140876043
NM_032444.4(SLX4):c.4882A>T (p.Thr1628Ser)
NM_032444.4(SLX4):c.4883C>A (p.Thr1628Asn)
NM_032444.4(SLX4):c.4883C>T (p.Thr1628Ile) rs199573277
NM_032444.4(SLX4):c.4918G>C (p.Gly1640Arg) rs368102037
NM_032444.4(SLX4):c.4972G>A (p.Gly1658Arg) rs200507644
NM_032444.4(SLX4):c.5027C>T (p.Thr1676Ile) rs377544881
NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser) rs199592185
NM_032444.4(SLX4):c.5056G>A (p.Ala1686Thr)
NM_032444.4(SLX4):c.5060C>G (p.Pro1687Arg) rs765960272
NM_032444.4(SLX4):c.5072A>G (p.Asn1691Ser)
NM_032444.4(SLX4):c.5080G>A (p.Ala1694Thr) rs1218491919
NM_032444.4(SLX4):c.5153+6C>A rs754209356
NM_032444.4(SLX4):c.5186A>G (p.Glu1729Gly)
NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro) rs199838670
NM_032444.4(SLX4):c.5189C>T (p.Ser1730Phe)
NM_032444.4(SLX4):c.5211G>C (p.Glu1737Asp) rs1365924781
NM_032444.4(SLX4):c.5248_5249delinsTT (p.Ala1750Leu) rs878855163
NM_032444.4(SLX4):c.528A>C (p.Lys176Asn) rs778569160
NM_032444.4(SLX4):c.5304G>C (p.Gln1768His) rs1555449297
NM_032444.4(SLX4):c.5336G>A (p.Arg1779Gln) rs780261532
NM_032444.4(SLX4):c.5354T>C (p.Leu1785Pro) rs562491450
NM_032444.4(SLX4):c.537G>T (p.Glu179Asp) rs758789462
NM_032444.4(SLX4):c.5386A>G (p.Arg1796Gly) rs770529698
NM_032444.4(SLX4):c.5404G>A (p.Asp1802Asn) rs760435859
NM_032444.4(SLX4):c.5441G>A (p.Arg1814His) rs201036767
NM_032444.4(SLX4):c.5467C>T (p.Arg1823Trp) rs771230395
NM_032444.4(SLX4):c.5477G>A (p.Arg1826Gln) rs373558741
NM_032444.4(SLX4):c.5480del (p.Gly1827fs) rs780024167
NM_032444.4(SLX4):c.553G>A (p.Asp185Asn)
NM_032444.4(SLX4):c.565C>G (p.Pro189Ala) rs757069991
NM_032444.4(SLX4):c.589G>A (p.Val197Met) rs1555452306
NM_032444.4(SLX4):c.610C>G (p.Arg204Gly)
NM_032444.4(SLX4):c.629T>C (p.Leu210Pro)
NM_032444.4(SLX4):c.653G>C (p.Arg218Thr) rs756079504
NM_032444.4(SLX4):c.668G>A (p.Arg223His) rs762475814
NM_032444.4(SLX4):c.678C>A (p.His226Gln)
NM_032444.4(SLX4):c.752C>T (p.Ala251Val) rs201117707
NM_032444.4(SLX4):c.755G>A (p.Gly252Glu) rs1060501795
NM_032444.4(SLX4):c.802G>A (p.Val268Met) rs1060501798
NM_032444.4(SLX4):c.806C>T (p.Ala269Val) rs750475726
NM_032444.4(SLX4):c.80A>T (p.Asp27Val) rs1567178445
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp) rs141597706
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu) rs138618354
NM_032444.4(SLX4):c.853G>A (p.Asp285Asn)
NM_032444.4(SLX4):c.929G>A (p.Arg310Gln)
NM_032444.4(SLX4):c.973A>T (p.Thr325Ser) rs181942292
NM_032444.4(SLX4):c.97G>T (p.Asp33Tyr) rs780117582
NM_032444.4(SLX4):c.996G>T (p.Gln332His) rs377201471
NM_032957.4(RTEL1):c.418T>C (p.Trp140Arg) rs1555899781
NM_032957.4(RTEL1):c.437C>T (p.Pro146Leu)
NM_032957.4(RTEL1):c.448A>G (p.Thr150Ala)
NM_033022.3(RPS24):c.91G>A (p.Gly31Arg)
NM_033084.5(FANCD2):c.1016G>A (p.Gly339Asp)
NM_033084.5(FANCD2):c.1085A>G (p.Glu362Gly) rs951763949
NM_033084.5(FANCD2):c.1207C>G (p.Leu403Val)
NM_033084.5(FANCD2):c.1278+2dup rs1553608861
NM_033084.5(FANCD2):c.1348A>G (p.Ile450Val) rs145129959
NM_033084.5(FANCD2):c.1366C>A (p.Leu456Ile)
NM_033084.5(FANCD2):c.146T>G (p.Val49Gly)
NM_033084.5(FANCD2):c.1519A>G (p.Met507Val) rs376708399
NM_033084.5(FANCD2):c.1550T>C (p.Ile517Thr) rs1221998060
NM_033084.5(FANCD2):c.1601A>G (p.Tyr534Cys)
NM_033084.5(FANCD2):c.172A>G (p.Ile58Val) rs766098612
NM_033084.5(FANCD2):c.1759G>A (p.Ala587Thr) rs1553610798
NM_033084.5(FANCD2):c.1777C>T (p.Pro593Ser) rs147523071
NM_033084.5(FANCD2):c.1796G>A (p.Arg599Lys)
NM_033084.5(FANCD2):c.1810G>A (p.Asp604Asn) rs145170666
NM_033084.5(FANCD2):c.1835C>T (p.Ser612Phe) rs760516842
NM_033084.5(FANCD2):c.1864G>A (p.Glu622Lys)
NM_033084.5(FANCD2):c.1920A>C (p.Gln640His)
NM_033084.5(FANCD2):c.1954G>A (p.Val652Ile) rs1381447946
NM_033084.5(FANCD2):c.2068G>A (p.Asp690Asn)