ClinVar Miner

List of variants studied for anemia (disease) by Invitae

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5705
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_236958984)_(237060964_?)del
NC_000001.10:g.(?_24018304)_(24022873_?)del
NC_000001.10:g.(?_24022278)_(24022873_?)del
NC_000001.10:g.(?_43814924)_(43815040_?)del
NC_000001.10:g.(?_93297666)_(93299223_?)del
NC_000002.11:g.(?_58386890)_(58393019_?)del
NC_000002.11:g.(?_58386890)_(58468458_?)del
NC_000003.11:g.(?_10070332)_(10085558_?)del
NC_000003.11:g.(?_10070332)_(10088417_?)del
NC_000003.11:g.(?_10106407)_(10188326_?)del
NC_000003.11:g.(?_10127486)_(10140644_?)dup
NC_000003.11:g.(?_148923935)_(148924146_?)del
NC_000003.11:g.(?_148939414)_(148939599_?)del
NC_000003.11:g.(?_197677829)_(197682654_?)del
NC_000003.11:g.(?_197677833)_(197682650_?)del
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.(?_1280263)_(1280463_?)del
NC_000005.9:g.(?_1280267)_(1280459_?)del
NC_000005.9:g.(?_1293418)_(1295161_?)dup
NC_000005.9:g.(?_177576708)_(177580824_?)del
NC_000009.11:g.(?_97863982)_(98270649_?)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.(?_103336519)_(103397037_?)del
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.(?_89790860)_(89860362_?)del
NC_000015.9:g.(?_89833434)_(89834955_?)del
NC_000016.9:g.(?_14014013)_(14042214_?)del
NC_000016.9:g.(?_14021879)_(14022098_?)del
NC_000016.9:g.(?_30066083)_(30081533_?)dup
NC_000016.9:g.(?_3632337)_(3658971_?)dup
NC_000016.9:g.(?_3634764)_(3634878_?)dup
NC_000016.9:g.(?_3658431)_(3659567_?)del
NC_000016.9:g.(?_89804999)_(89883033_?)del
NC_000016.9:g.(?_89811357)_(89851382_?)dup
NC_000016.9:g.(?_89811367)_(89851372_?)dup
NC_000016.9:g.(?_89818536)_(89858965_?)del
NC_000016.9:g.(?_89818536)_(89883033_?)del
NC_000016.9:g.(?_89818546)_(89858955_?)del
NC_000016.9:g.(?_89824979)_(89851378_?)del
NC_000016.9:g.(?_89828351)_(89986626_?)del
NC_000016.9:g.(?_89831215)_(89871810_?)del
NC_000016.9:g.(?_89831288)_(89839802_?)del
NC_000016.9:g.(?_89831292)_(89833651_?)del
NC_000016.9:g.(?_89831292)_(89846371_?)del
NC_000016.9:g.(?_89833543)_(89883029_?)del
NC_000016.9:g.(?_89842140)_(89874785_?)del
NC_000016.9:g.(?_89842144)_(89842229_?)del
NC_000016.9:g.(?_89849257)_(89851382_?)del
NC_000016.9:g.(?_89849257)_(89862436_?)del
NC_000016.9:g.(?_89857801)_(89883033_?)del
NC_000016.9:g.(?_89857810)_(89883023_?)del
NC_000016.9:g.(?_89864654)_(89866056_?)dup
NC_000016.9:g.(?_89877105)_(89883033_?)del
NC_000016.9:g.(?_89877109)_(89883029_?)del
NC_000016.9:g.(?_89880918)_(89883033_?)dup
NC_000016.9:g.(?_89880922)_(89883029_?)del
NC_000016.9:g.(?_89880928)_(89883065_?)dup
NC_000017.10:g.(?_56769995)_(56770159_?)del
NC_000017.10:g.(?_56769995)_(56787361_?)del
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)_(56787357_?)del
NC_000017.10:g.(?_56769999)_(56801467_?)dup
NC_000017.10:g.(?_56769999)_(56811589_?)del
NC_000017.10:g.(?_56769999)_(56811589_?)dup
NC_000017.10:g.(?_56772286)_(56774226_?)dup
NC_000017.10:g.(?_56774048)_(56774226_?)del
NC_000017.10:g.(?_56780547)_(56780700_?)del
NC_000017.10:g.(?_56780547)_(56811593_?)del
NC_000017.10:g.(?_56780557)_(56787351_?)del
NC_000017.10:g.(?_56787210)_(56787361_?)del
NC_000017.10:g.(?_56787210)_(56811593_?)del
NC_000017.10:g.(?_56787214)_(56787357_?)del
NC_000017.10:g.(?_56787214)_(56787357_?)dup
NC_000017.10:g.(?_56798097)_(56811593_?)del
NC_000017.10:g.(?_56798101)_(56798179_?)del
NC_000017.10:g.(?_56798101)_(56798179_?)dup
NC_000017.10:g.(?_56798101)_(56801467_?)del
NC_000017.10:g.(?_56798107)_(56811703_?)del
NC_000017.10:g.(?_56809835)_(56811593_?)del
NC_000017.10:g.(?_56811473)_(56811589_?)del
NC_000017.10:g.(?_59760647)_(59761511_?)dup
NC_000017.10:g.(?_59760647)_(59770883_?)del
NC_000017.10:g.(?_59760647)_(59793434_?)del
NC_000017.10:g.(?_59760647)_(59938910_?)dup
NC_000017.10:g.(?_59760651)_(59761507_?)del
NC_000017.10:g.(?_59760651)_(59938906_?)dup
NC_000017.10:g.(?_59763187)_(59763536_?)del
NC_000017.10:g.(?_59793302)_(59886128_?)del
NC_000017.10:g.(?_59820364)_(59886128_?)dup
NC_000017.10:g.(?_59820368)_(59886124_?)del
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)_(59878841_?)del
NC_000017.10:g.(?_59853756)_(59938906_?)del
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)_(59937274_?)dup
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.(?_59924452)_(59926627_?)del
NC_000017.10:g.(?_59924456)_(59938906_?)dup
NC_000017.10:g.(?_59924462)_(59926617_?)del
NC_000017.10:g.(?_59924462)_(59926617_?)dup
NC_000017.10:g.(?_59934409)_(59938910_?)del
NC_000017.10:g.(?_59934413)_(59938906_?)del
NC_000017.10:g.(?_59937147)_(59938910_?)del
NC_000017.10:g.(?_59938802)_(59938906_?)del
NC_000017.10:g.(?_7572921)_(8285634_?)del
NC_000017.10:g.(?_8280834)_(8283254_?)dup
NC_000018.9:g.(?_2920271)_(2960858_?)del
NC_000018.9:g.(?_2920271)_(2960858_?)dup
NC_000019.9:g.(?_42363988)_(42364359_?)del
NC_000019.9:g.(?_42373091)_(42375455_?)del
NC_000020.10:g.(?_18492869)_(18496380_?)del
NC_000020.10:g.(?_62290736)_(62327158_?)dup
NC_000022.10:g.(?_31008840)_(31011794_?)del
NC_000023.10:g.(?_133594322)_(133594415_?)del
NC_000023.10:g.(?_133594322)_(133634127_?)del
NC_000023.10:g.(?_133607369)_(133634127_?)del
NC_000023.10:g.(?_14875974)_(14877466_?)del
NC_000023.10:g.(?_76763809)_(76972740_?)dup
NC_000023.10:g.(?_76944291)_(76972740_?)del
NM_000096.4(CP):c.1037-3C>A
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984
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.1293C>T (p.Ala431=) rs758930665
NM_000096.4(CP):c.1313A>G (p.Glu438Gly) rs1553761979
NM_000096.4(CP):c.1414C>A (p.Pro472Thr)
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000096.4(CP):c.1503_1504TG[3] (p.Pro503fs) rs1553761391
NM_000096.4(CP):c.1613del (p.Met538fs)
NM_000096.4(CP):c.1632= (p.Glu544=) rs701753
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000096.4(CP):c.1680C>T (p.Cys560=) rs1553761342
NM_000096.4(CP):c.1900C>A (p.Leu634Ile)
NM_000096.4(CP):c.1939T>A (p.Phe647Ile)
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949
NM_000096.4(CP):c.2253G>A (p.Trp751Ter) rs1559940237
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500
NM_000096.4(CP):c.2446G>A (p.Val816Ile)
NM_000096.4(CP):c.2498C>G (p.Ser833Ter)
NM_000096.4(CP):c.249T>C (p.Thr83=) rs138512757
NM_000096.4(CP):c.2681T>C (p.Ile894Thr)
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000096.4(CP):c.2702dup (p.Arg902fs) rs1559935542
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) rs187293972
NM_000096.4(CP):c.3182-4A>G rs34272112
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.643C>T (p.Arg215Ter) rs386134155
NM_000096.4(CP):c.788A>G (p.Asn263Ser) rs150303869
NM_000096.4(CP):c.938C>T (p.Thr313Ile) rs144401501
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.3(FANCA):c.(?_-1)_522+?del
NM_000135.4(FANCA):c.1010C>G (p.Ser337Cys)
NM_000135.4(FANCA):c.1028_1029AG[3] (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606
NM_000135.4(FANCA):c.106_108del (p.Asn36del)
NM_000135.4(FANCA):c.1072C>G (p.Leu358Val) rs748337423
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1100G>A (p.Ser367Asn) rs764286584
NM_000135.4(FANCA):c.1102G>A (p.Ala368Thr)
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe)
NM_000135.4(FANCA):c.1143G>A (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)
NM_000135.4(FANCA):c.1194C>T (p.Val398=) rs1158857420
NM_000135.4(FANCA):c.1203A>G (p.Pro401=) rs1180493781
NM_000135.4(FANCA):c.1226-2A>G rs773906241
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.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1290G>T (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met) rs1307948857
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys) rs367733447
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val)
NM_000135.4(FANCA):c.133G>A (p.Glu45Lys) rs142990858
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000135.4(FANCA):c.1360-4A>G rs746911316
NM_000135.4(FANCA):c.1360-7C>T rs17232616
NM_000135.4(FANCA):c.1365C>T (p.Ser455=) rs897548553
NM_000135.4(FANCA):c.139G>A (p.Ala47Thr)
NM_000135.4(FANCA):c.1403A>G (p.Lys468Arg)
NM_000135.4(FANCA):c.1419G>C (p.Leu473=) rs1337670144
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.1461G>A (p.Arg487=) rs770851522
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys)
NM_000135.4(FANCA):c.1471-8A>G rs374717514
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.1537T>C (p.Leu513=) rs144118098
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.1630dup (p.His544fs)
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.1683G>A (p.Thr561=) rs143451067
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.169C>T (p.Leu57=) rs368828271
NM_000135.4(FANCA):c.1701C>T (p.Thr567=) rs745466726
NM_000135.4(FANCA):c.1710G>A (p.Glu570=) rs17226344
NM_000135.4(FANCA):c.1740G>A (p.Val580=) rs1400163791
NM_000135.4(FANCA):c.1750C>G (p.Leu584Val)
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769
NM_000135.4(FANCA):c.1776+1G>A rs756140957
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.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1812_1813AG[1] (p.Glu605fs) rs759899153
NM_000135.4(FANCA):c.1824dup (p.Arg609fs)
NM_000135.4(FANCA):c.1827-1G>A rs555449842
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338
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.1872C>A (p.Ala624=) rs571449307
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr)
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.189+7G>A rs369985388
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp) rs768520283
NM_000135.4(FANCA):c.1900+1G>T
NM_000135.4(FANCA):c.1900+7T>A rs377401016
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1901-5C>G rs1060504375
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe) rs776682683
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala) rs1555549412
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter) rs1060501878
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)
NM_000135.4(FANCA):c.2015-8del rs1567619964
NM_000135.4(FANCA):c.201A>G (p.Pro67=) rs775320466
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973
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.2101A>G (p.Lys701Glu) rs56369086
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2110C>G (p.Leu704Val) rs1555548507
NM_000135.4(FANCA):c.2124G>A (p.Thr708=) rs201668358
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.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.2172G>A (p.Thr724=) rs768851944
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val) rs199938598
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.4(FANCA):c.2222+9G>A rs774316742
NM_000135.4(FANCA):c.2222+9G>C rs774316742
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp) rs763187355
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.4(FANCA):c.2239G>A (p.Ala747Thr) rs931143821
NM_000135.4(FANCA):c.2248G>A (p.Val750Met)
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe)
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)
NM_000135.4(FANCA):c.2317-1G>T
NM_000135.4(FANCA):c.2317-8C>T rs753766357
NM_000135.4(FANCA):c.2364C>T (p.Ala788=) rs149754397
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569
NM_000135.4(FANCA):c.2391G>A (p.Ala797=) rs147882314
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.2478G>A (p.Thr826=) rs147283549
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444
NM_000135.4(FANCA):c.2502G>A (p.Leu834=) rs770993950
NM_000135.4(FANCA):c.2505-10_2505-9del rs766900188
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.2529_2530CT[3] (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs) rs1567616135
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)
NM_000135.4(FANCA):c.2593A>G (p.Ile865Val) rs878853662
NM_000135.4(FANCA):c.2594T>G (p.Ile865Ser) rs1331781220
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn) rs746889340
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.4(FANCA):c.2607G>C (p.Gln869His) rs1555545583
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) rs149435806
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.2722_2723CT[4] (p.Trp911fs) rs878853663
NM_000135.4(FANCA):c.2735_2736CA[2] (p.His913fs)
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr)
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.2778+1G>A
NM_000135.4(FANCA):c.2785T>C (p.Tyr929His) rs1567612427
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.4(FANCA):c.2800C>A (p.His934Asn)
NM_000135.4(FANCA):c.2815A>G (p.Ile939Val)
NM_000135.4(FANCA):c.2826A>C (p.Glu942Asp) rs1217883878
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.283+3A>C rs786204204
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821
NM_000135.4(FANCA):c.2851C>A (p.Arg951=)
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852+2T>G
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.4(FANCA):c.2856G>C (p.Gln952His) rs200093209
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr)
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu) rs779162871
NM_000135.4(FANCA):c.2904G>A (p.Ser968=)
NM_000135.4(FANCA):c.2904G>T (p.Ser968=) rs568354015
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.294_295delinsTT (p.Leu98_Gln99delinsPheTer)
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro) rs752735858
NM_000135.4(FANCA):c.2959G>T (p.Ala987Ser) rs752735858
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn) rs1060501883
NM_000135.4(FANCA):c.2975A>T (p.His992Leu) rs184007986
NM_000135.4(FANCA):c.2981+4dup rs75004096
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2994T>C (p.Tyr998=) rs758384536
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln) rs750421982
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)
NM_000135.4(FANCA):c.3062T>G (p.Leu1021Trp)
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter) rs1555538740
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.4(FANCA):c.3115G>A (p.Gly1039Ser)
NM_000135.4(FANCA):c.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.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3168C>T (p.Leu1056=) rs377633991
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.3183C>T (p.Ser1061=) rs1800346
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
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.3239+1dup
NM_000135.4(FANCA):c.3240-3C>T rs1315428324
NM_000135.4(FANCA):c.324C>T (p.Pro108=) rs775822054
NM_000135.4(FANCA):c.3251G>A (p.Arg1084His)
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His)
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His) rs779268656
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter) rs777825824
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) rs878853664
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro)
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His) rs768851109
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3400_3402TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3408+1G>C rs1567601557
NM_000135.4(FANCA):c.3409-6C>G rs377428227
NM_000135.4(FANCA):c.3409-6C>T rs377428227
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269
NM_000135.4(FANCA):c.3428T>G (p.Leu1143Arg) rs1188842855
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=) rs1266179547
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000135.4(FANCA):c.3512T>C (p.Leu1171Pro)
NM_000135.4(FANCA):c.3514-4A>G rs149388130
NM_000135.4(FANCA):c.3517_3519TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter)
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625
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.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.4(FANCA):c.3576G>A (p.Pro1192=) rs553086820
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=) rs55773634
NM_000135.4(FANCA):c.3602_3604AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3611G>A (p.Arg1204Gln) rs770622823
NM_000135.4(FANCA):c.361G>A (p.Val121Met)
NM_000135.4(FANCA):c.3623G>A (p.Ser1208Asn) rs1351484293
NM_000135.4(FANCA):c.3623G>T (p.Ser1208Ile) rs1351484293
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.4(FANCA):c.3627-7G>C rs1161905441
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712
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.3669C>T (p.Asp1223=) rs187074190
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>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) rs139160837
NM_000135.4(FANCA):c.3792C>T (p.Ser1264=) rs141128234
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=) rs138144828
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val)
NM_000135.4(FANCA):c.3828+1G>C rs1432988639
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.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.387G>A (p.Ala129=)
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr) rs765162125
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg) rs878853665
NM_000135.4(FANCA):c.3908T>C (p.Leu1303Pro)
NM_000135.4(FANCA):c.3935-4G>A rs1392135704
NM_000135.4(FANCA):c.3935-6T>C rs368376237
NM_000135.4(FANCA):c.3935-9G>A rs9282680
NM_000135.4(FANCA):c.3937C>T (p.Leu1313Phe) rs551306400
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp) rs200215131
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966
NM_000135.4(FANCA):c.3953_3955TCC[2] (p.Leu1320del) rs927201841
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys)
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His) rs374649848
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657
NM_000135.4(FANCA):c.4019C>T (p.Ser1340Phe)
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396
NM_000135.4(FANCA):c.4039G>A (p.Ala1347Thr)
NM_000135.4(FANCA):c.4051G>C (p.Glu1351Gln)
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390
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.414_415TG[1] (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.4167+8C>G rs772665586
NM_000135.4(FANCA):c.4167G>C (p.Gln1389His)
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980
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.4210C>T (p.Leu1404=) rs1379441535
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln) rs370507983
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met) rs145148206
NM_000135.4(FANCA):c.426+2T>G
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.4260+6G>C
NM_000135.4(FANCA):c.4261-8T>G rs372268907
NM_000135.4(FANCA):c.4261-9C>G rs368506826
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.4275del (p.Asp1427fs)
NM_000135.4(FANCA):c.4291G>C (p.Glu1431Gln) rs1567591125
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)
NM_000135.4(FANCA):c.4326T>C (p.Ala1442=) rs1555532716
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783
NM_000135.4(FANCA):c.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.537T>G (p.Leu179=) rs749811331
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.542_543delinsTC (p.Ala181Val)
NM_000135.4(FANCA):c.543G>A (p.Ala181=) rs143314367
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter)
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.596+6G>A rs369548513
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697
NM_000135.4(FANCA):c.627G>C (p.Trp209Cys)
NM_000135.4(FANCA):c.641_642TG[1] (p.Cys215fs) rs1338138752
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
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.694A>C (p.Arg232=) rs61757384
NM_000135.4(FANCA):c.700A>G (p.Met234Val)
NM_000135.4(FANCA):c.701T>C (p.Met234Thr)
NM_000135.4(FANCA):c.709+5G>A rs759877008
NM_000135.4(FANCA):c.709+5G>T rs759877008
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.755A>G (p.Asp252Gly) rs17225943
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.790C>T (p.Gln264Ter)
NM_000135.4(FANCA):c.793-5G>T rs1461529538
NM_000135.4(FANCA):c.793-9T>C rs757500718
NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr) rs1246636933
NM_000135.4(FANCA):c.812A>C (p.Gln271Pro) rs762721928
NM_000135.4(FANCA):c.813G>C (p.Gln271His) rs773057753
NM_000135.4(FANCA):c.81G>A (p.Ala27=) rs150247726
NM_000135.4(FANCA):c.835G>T (p.Asp279Tyr) rs1555566625
NM_000135.4(FANCA):c.838G>A (p.Ala280Thr) rs1010833101
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796
NM_000135.4(FANCA):c.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.87G>A (p.Arg29=) rs760787108
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.897C>T (p.Phe299=) rs765341703
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn) rs1060501877
NM_000135.4(FANCA):c.912_913AC[2] (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.924C>T (p.Gly308=) rs143255238
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn)
NM_000135.4(FANCA):c.948G>A (p.Leu316=) rs767146506
NM_000135.4(FANCA):c.953G>T (p.Arg318Met) rs72552377
NM_000135.4(FANCA):c.95G>C (p.Arg32Thr) rs770984577
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.983_986TCAC[1] (p.His330fs) rs772359099
NM_000136.2(FANCC):c.-78-?_250+?del
NM_000136.2(FANCC):c.997-?_1154+?del
NM_000136.3(FANCC):c.*5C>T rs117175949
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.1023T>C (p.Phe341=) rs758439579
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.1073-4G>A rs147695697
NM_000136.3(FANCC):c.1073-5C>T rs375613884
NM_000136.3(FANCC):c.1079C>G (p.Pro360Arg)
NM_000136.3(FANCC):c.1081C>T (p.Arg361Trp) rs768508859
NM_000136.3(FANCC):c.1082G>A (p.Arg361Gln) rs761336987
NM_000136.3(FANCC):c.1090T>C (p.Trp364Arg) rs771694972
NM_000136.3(FANCC):c.1093C>T (p.Leu365Phe) rs1060502514
NM_000136.3(FANCC):c.1098G>C (p.Gln366His) rs1564652354
NM_000136.3(FANCC):c.109C>G (p.His37Asp) rs864622230
NM_000136.3(FANCC):c.110A>C (p.His37Pro) rs1564794663
NM_000136.3(FANCC):c.112G>C (p.Val38Leu) rs778951584
NM_000136.3(FANCC):c.1146G>C (p.Gln382His) rs770809637
NM_000136.3(FANCC):c.1154+2dup rs1386979449
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.1159T>C (p.Cys387Arg) rs1064793837
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258
NM_000136.3(FANCC):c.1162G>A (p.Gly388Arg) rs371897078
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1170C>G (p.Pro390=) rs878853668
NM_000136.3(FANCC):c.1200C>T (p.Phe400=) rs767215159
NM_000136.3(FANCC):c.1201G>A (p.Gly401Arg) rs730881722
NM_000136.3(FANCC):c.1241C>T (p.Ser414Leu)
NM_000136.3(FANCC):c.1242G>A (p.Ser414=) rs587780939
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.1257C>A (p.Pro419=) rs878853669
NM_000136.3(FANCC):c.1257del (p.Thr420fs)
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1262C>G (p.Ala421Gly) rs863224608
NM_000136.3(FANCC):c.1264C>A (p.Leu422Met) rs756716463
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606
NM_000136.3(FANCC):c.1283_1285del (p.Phe428del)
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=) rs766105286
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.1302dup (p.Gly435fs) rs730881709
NM_000136.3(FANCC):c.1312_1329+68dup rs1554829415
NM_000136.3(FANCC):c.131T>C (p.Phe44Ser)
NM_000136.3(FANCC):c.1327A>G (p.Met443Val) rs150941781
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.1329+1G>T rs1554829441
NM_000136.3(FANCC):c.1329+5del rs878853670
NM_000136.3(FANCC):c.1330-3C>T rs4647542
NM_000136.3(FANCC):c.1330-8T>C rs864622221
NM_000136.3(FANCC):c.1330G>A (p.Val444Ile) rs1554828492
NM_000136.3(FANCC):c.1344C>T (p.Ala448=) rs760983825
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367
NM_000136.3(FANCC):c.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.1385_1386TC[1] (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1388C>T (p.Ser463Leu)
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698
NM_000136.3(FANCC):c.1425A>G (p.Thr475=) rs199739450
NM_000136.3(FANCC):c.1428_1429CA[1] (p.Thr477fs)
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.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1485G>C (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298
NM_000136.3(FANCC):c.1508C>T (p.Thr503Met) rs779982610
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080
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.1530C>T (p.Thr510=) rs372199352
NM_000136.3(FANCC):c.1532T>C (p.Leu511Pro) rs1554828313
NM_000136.3(FANCC):c.1533+5G>A
NM_000136.3(FANCC):c.1533+9C>T rs863224323
NM_000136.3(FANCC):c.1534-5T>G rs730881727
NM_000136.3(FANCC):c.1534-5del rs748342368
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser) rs201379302
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474
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.1594A>C (p.Arg532=) rs764649916
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys) rs55939573
NM_000136.3(FANCC):c.1596A>G (p.Arg532=)
NM_000136.3(FANCC):c.15A>G (p.Ser5=) rs778408360
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.1611C>A (p.Gly537=) rs1027358273
NM_000136.3(FANCC):c.1618A>C (p.Ser540Arg)
NM_000136.3(FANCC):c.1622C>T (p.Pro541Leu) rs1554827120
NM_000136.3(FANCC):c.1623T>G (p.Pro541=) rs375362894
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.1642C>T (p.Arg548Ter) rs104886457
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.166-5C>T rs753820400
NM_000136.3(FANCC):c.166-7T>C rs369052148
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.222T>C (p.Ala74=) rs1554857821
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.251-2A>G rs1057517219
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.288T>C (p.Cys96=) rs864622349
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.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
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.339G>A (p.Trp113Ter) rs1057516291
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.345+6A>T rs368595927
NM_000136.3(FANCC):c.345G>A (p.Gln115=) rs1031713372
NM_000136.3(FANCC):c.346-11_346-10del rs863224324
NM_000136.3(FANCC):c.346-1G>T
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.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.371C>T (p.Ala124Val) rs374602991
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.389_390del (p.Glu130fs) rs1564720605
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.399T>G (p.Leu133=) rs864622764
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.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.438T>C (p.Tyr146=) rs765990832
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu) rs730881711
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.457-10del rs763416214
NM_000136.3(FANCC):c.457-7T>C rs749994612
NM_000136.3(FANCC):c.468A>G (p.Ser156=) rs148616725
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.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.485_486GA[2] (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.485dup (p.Glu163fs) rs1554842611
NM_000136.3(FANCC):c.491A>T (p.Asn164Ile) rs950623649
NM_000136.3(FANCC):c.507del (p.Phe169fs)
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+10_521+13del rs1372625836
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.521+5G>A
NM_000136.3(FANCC):c.521G>A (p.Arg174Gln) rs755283850
NM_000136.3(FANCC):c.522-4A>G rs371422485
NM_000136.3(FANCC):c.523A>G (p.Met175Val) rs876661083
NM_000136.3(FANCC):c.531C>T (p.Pro177=) rs150070473
NM_000136.3(FANCC):c.532G>A (p.Glu178Lys) rs554302947
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987
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.553C>T (p.Arg185Ter) rs121917783
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.584A>T (p.Asp195Val) 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.609C>T (p.Leu203=) rs567226063
NM_000136.3(FANCC):c.620A>T (p.His207Leu) rs202038890
NM_000136.3(FANCC):c.625C>T (p.Arg209Cys) rs373270404
NM_000136.3(FANCC):c.626G>A (p.Arg209His) rs587778327
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.650C>T (p.Pro217Leu) rs730881714
NM_000136.3(FANCC):c.652G>C (p.Glu218Gln) rs752339229
NM_000136.3(FANCC):c.654G>A (p.Glu218=) rs754705988
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815
NM_000136.3(FANCC):c.672C>T (p.Asn224=) rs150647141
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.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.687-1G>A
NM_000136.3(FANCC):c.687G>A (p.Leu229=) rs864622527
NM_000136.3(FANCC):c.689_691AGA[1] (p.Lys231del) rs3831244
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.3(FANCC):c.733C>T (p.Arg245Trp) rs571548182
NM_000136.3(FANCC):c.745A>G (p.Ser249Gly) rs539583288
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile) rs778966663
NM_000136.3(FANCC):c.760A>G (p.Met254Val) rs757294568
NM_000136.3(FANCC):c.767A>G (p.His256Arg) rs730881716
NM_000136.3(FANCC):c.770T>C (p.Leu257Pro) rs1060502515
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.783A>C (p.Leu261=) rs1060504646
NM_000136.3(FANCC):c.790A>G (p.Ser264Gly) rs111657009
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg) rs730881717
NM_000136.3(FANCC):c.800A>G (p.Asn267Ser) rs200854639
NM_000136.3(FANCC):c.802T>A (p.Cys268Ser) rs730881718
NM_000136.3(FANCC):c.80C>T (p.Thr27Ile) rs1489419613
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.3(FANCC):c.823T>C (p.Phe275Leu) rs745621828
NM_000136.3(FANCC):c.826A>G (p.Ile276Val) rs377085045
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr) rs757190154
NM_000136.3(FANCC):c.838T>C (p.Ser280Pro)
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520
NM_000136.3(FANCC):c.843+1G>A rs587779909
NM_000136.3(FANCC):c.843+4C>T rs4647506
NM_000136.3(FANCC):c.843+5G>A rs369082921
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000136.3(FANCC):c.844-1G>C rs774209201
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.882T>C (p.Val294=) rs750639831
NM_000136.3(FANCC):c.891G>T (p.Met297Ile) rs1554833192
NM_000136.3(FANCC):c.896+1G>C rs1554833186
NM_000136.3(FANCC):c.896+2T>G rs863224441
NM_000136.3(FANCC):c.896+6C>T rs199525333
NM_000136.3(FANCC):c.896+7G>A rs1554833182
NM_000136.3(FANCC):c.897-10C>T rs955495354
NM_000136.3(FANCC):c.897-3C>T rs1057521714
NM_000136.3(FANCC):c.897-8T>C rs878853673
NM_000136.3(FANCC):c.897G>T (p.Arg299Ser)
NM_000136.3(FANCC):c.8A>C (p.Gln3Pro) rs1415268424
NM_000136.3(FANCC):c.906C>G (p.Leu302=) rs766079351
NM_000136.3(FANCC):c.906C>T (p.Leu302=) rs766079351
NM_000136.3(FANCC):c.915C>T (p.Thr305=) rs138132690
NM_000136.3(FANCC):c.916G>A (p.Asp306Asn) rs772992002
NM_000136.3(FANCC):c.918T>G (p.Asp306Glu) rs1564665867
NM_000136.3(FANCC):c.924C>G (p.Ala308=) rs864622225
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713
NM_000136.3(FANCC):c.956C>T (p.Thr319Met)
NM_000136.3(FANCC):c.957G>A (p.Thr319=) rs1060504647
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189
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.993G>A (p.Lys331=) rs748582850
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000136.3(FANCC):c.996+9dup rs781108327
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.143G>A (p.Arg48His) rs387906725
NM_000194.3(HPRT1):c.319-2A>G
NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) rs137852489
NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter)
NM_000194.3(HPRT1):c.609dup (p.His204fs) rs1556030169
NM_000194.3(HPRT1):c.610C>T (p.His204Tyr)
NM_000194.3(HPRT1):c.648del (p.Lys215_Tyr216insTer)
NM_000194.3(HPRT1):c.653C>G (p.Ala218Gly)
NM_000254.2(MTR):c.1033G>A (p.Val345Ile) rs145006491
NM_000254.2(MTR):c.1067T>C (p.Leu356Ser) rs1286773616
NM_000254.2(MTR):c.1074T>C (p.Ser358=)
NM_000254.2(MTR):c.1076-8C>T rs115186224
NM_000254.2(MTR):c.1080A>G (p.Leu360=) rs141861479
NM_000254.2(MTR):c.1437C>T (p.Asp479=) rs115424814
NM_000254.2(MTR):c.1522G>C (p.Glu508Gln)
NM_000254.2(MTR):c.155G>A (p.Arg52Gln) rs12749581
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.1992_1993insATCA (p.Glu665fs)
NM_000254.2(MTR):c.2165T>C (p.Leu722Pro) rs1553321807
NM_000254.2(MTR):c.2304+3A>C
NM_000254.2(MTR):c.2476del (p.Asp825_Ile826insTer)
NM_000254.2(MTR):c.250-7G>A rs184332230
NM_000254.2(MTR):c.2622G>A (p.Pro874=) rs141919148
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.3439C>T (p.Arg1147Ter)
NM_000254.2(MTR):c.3474G>A (p.Leu1158=) rs142113735
NM_000254.2(MTR):c.3490C>T (p.Arg1164Cys)
NM_000254.2(MTR):c.3496C>T (p.Leu1166=) rs12030699
NM_000254.2(MTR):c.3514C>T (p.Arg1172Cys)
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) rs121913578
NM_000254.2(MTR):c.3599-10C>A rs41530146
NM_000254.2(MTR):c.3613G>T (p.Glu1205Ter) rs121913581
NM_000254.2(MTR):c.3665A>G (p.Asn1222Ser) rs61739582
NM_000254.2(MTR):c.858C>T (p.Pro286=) rs146019467
NM_000254.2(MTR):c.899C>T (p.Thr300Met)
NM_000254.2(MTR):c.927+1G>C
NM_000289.6(PFKM):c.1005A>G (p.Val335=) rs1454843075
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly)
NM_000289.6(PFKM):c.1191+1G>A
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser)
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser)
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.1023G>A (p.Pro341=) rs76802001
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.1127T>C (p.Leu376Ser) rs1131603
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly) rs148963479
NM_000355.4(TCN2):c.1246G>A (p.Asp416Asn)
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551
NM_000355.4(TCN2):c.154C>T (p.Pro52Ser) rs1555894597
NM_000355.4(TCN2):c.164A>G (p.Tyr55Cys)
NM_000355.4(TCN2):c.174A>G (p.Leu58=) rs764601482
NM_000355.4(TCN2):c.175C>T (p.Arg59Cys) rs757905563
NM_000355.4(TCN2):c.230A>T (p.Lys77Met) rs75680863
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) rs150225103
NM_000355.4(TCN2):c.299C>T (p.Pro100Leu)
NM_000355.4(TCN2):c.323A>T (p.Tyr108Phe)
NM_000355.4(TCN2):c.330C>T (p.Leu110=) rs528481728
NM_000355.4(TCN2):c.362G>A (p.Gly121Asp)
NM_000355.4(TCN2):c.409G>A (p.Asp137Asn) rs775586639
NM_000355.4(TCN2):c.428-2_428-1del
NM_000355.4(TCN2):c.428-4T>C rs201408393
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153
NM_000355.4(TCN2):c.566G>A (p.Gly189Asp)
NM_000355.4(TCN2):c.572A>G (p.His191Arg)
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp) rs35838082
NM_000355.4(TCN2):c.65-6T>A
NM_000355.4(TCN2):c.65-8T>C rs773798398
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.753+8A>G rs778117023
NM_000355.4(TCN2):c.766dup (p.Ser256fs) rs1555895066
NM_000355.4(TCN2):c.809C>T (p.Ala270Val) rs201392026
NM_000355.4(TCN2):c.810G>A (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.840T>C (p.Asp280=) rs79999752
NM_000355.4(TCN2):c.843A>T (p.Gly281=)
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg) rs116605132
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105
NM_000489.5(ATRX):c.1004G>C (p.Cys335Ser)
NM_000489.5(ATRX):c.1077G>T (p.Leu359=) rs782504858
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.1256C>T (p.Ala419Val) rs374958282
NM_000489.5(ATRX):c.1264G>A (p.Ala422Thr)
NM_000489.5(ATRX):c.12G>A (p.Glu4=) rs782765957
NM_000489.5(ATRX):c.1322_1324del (p.Thr441del) rs1569539303
NM_000489.5(ATRX):c.1448A>C (p.Gln483Pro) rs781820428
NM_000489.5(ATRX):c.1509A>G (p.Gln503=)
NM_000489.5(ATRX):c.1625T>C (p.Val542Ala) rs782158232
NM_000489.5(ATRX):c.1633C>G (p.Gln545Glu) rs35738915
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.1878A>G (p.Lys626=) rs1557140595
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.2000C>T (p.Pro667Leu) rs61752457
NM_000489.5(ATRX):c.2064A>G (p.Lys688=) rs781991929
NM_000489.5(ATRX):c.2105A>G (p.Asn702Ser) rs782409603
NM_000489.5(ATRX):c.2169G>C (p.Glu723Asp) rs61752456
NM_000489.5(ATRX):c.2225G>C (p.Ser742Thr)
NM_000489.5(ATRX):c.222A>G (p.Ser74=) rs782427200
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.228G>A (p.Ser76=) rs5959371
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.2524C>T (p.Pro842Ser) rs782196312
NM_000489.5(ATRX):c.2540T>C (p.Phe847Ser) rs45624939
NM_000489.5(ATRX):c.2581G>A (p.Asp861Asn) rs782629714
NM_000489.5(ATRX):c.2595C>G (p.His865Gln) rs61752455
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.2680A>C (p.Thr894Pro) rs145807475
NM_000489.5(ATRX):c.2696C>T (p.Thr899Met) rs782757975
NM_000489.5(ATRX):c.2720G>A (p.Arg907Gln) rs143413618
NM_000489.5(ATRX):c.2730G>C (p.Lys910Asn) rs1206627354
NM_000489.5(ATRX):c.2752A>G (p.Thr918Ala)
NM_000489.5(ATRX):c.2763C>T (p.Val921=) rs782004945
NM_000489.5(ATRX):c.2770C>A (p.Leu924Ile) rs1569538903
NM_000489.5(ATRX):c.2785G>C (p.Glu929Gln) rs3088074
NM_000489.5(ATRX):c.2794A>G (p.Thr932Ala) rs1557138839
NM_000489.5(ATRX):c.2806G>C (p.Val936Leu) rs149232501
NM_000489.5(ATRX):c.2859A>G (p.Thr953=) rs782180867
NM_000489.5(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431
NM_000489.5(ATRX):c.288A>G (p.Lys96=) rs45574238
NM_000489.5(ATRX):c.2890A>G (p.Ile964Val)
NM_000489.5(ATRX):c.2901A>G (p.Lys967=) rs782680197
NM_000489.5(ATRX):c.2968G>A (p.Glu990Lys) rs376883807
NM_000489.5(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078
NM_000489.5(ATRX):c.3210A>G (p.Lys1070=) rs782634074
NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153
NM_000489.5(ATRX):c.3218G>C (p.Ser1073Thr) rs781825074
NM_000489.5(ATRX):c.3228T>A (p.Ser1076=) rs1205167045
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.3541G>C (p.Val1181Leu) rs61758732
NM_000489.5(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.5(ATRX):c.3559A>G (p.Asn1187Asp) rs782146598
NM_000489.5(ATRX):c.357G>C (p.Gln119His) rs959739617
NM_000489.5(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582
NM_000489.5(ATRX):c.3664G>A (p.Asp1222Asn) rs782520515
NM_000489.5(ATRX):c.371-4C>G
NM_000489.5(ATRX):c.3801T>C (p.Pro1267=) rs149717199
NM_000489.5(ATRX):c.3880G>C (p.Asp1294His) rs782386546
NM_000489.5(ATRX):c.3987A>G (p.Glu1329=) rs147160114
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.4120+4A>C rs200420513
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.4214+6A>G rs782562759
NM_000489.5(ATRX):c.4215-5G>A rs111833322
NM_000489.5(ATRX):c.4227_4230delinsT (p.Lys1409_Ala1410delinsAsn)
NM_000489.5(ATRX):c.4233G>T (p.Glu1411Asp)
NM_000489.5(ATRX):c.4239A>G (p.Glu1413=) rs141974120
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_4349AGA[1] (p.Glu1464del) rs587780288
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.4365_4367GGA[4] (p.Glu1464del) rs398123423
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.4635C>A (p.Thr1545=) rs148975763
NM_000489.5(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.5(ATRX):c.480C>T (p.Arg160=) rs1422750101
NM_000489.5(ATRX):c.5221A>C (p.Arg1741=) rs782633224
NM_000489.5(ATRX):c.5406A>G (p.Lys1802=) rs1200376246
NM_000489.5(ATRX):c.546A>G (p.Gln182=) rs375794120
NM_000489.5(ATRX):c.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.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.5698-15dup rs781820607
NM_000489.5(ATRX):c.570T>G (p.Pro190=) rs188831993
NM_000489.5(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.5(ATRX):c.5799A>G (p.Lys1933=) rs1557085918
NM_000489.5(ATRX):c.5935G>C (p.Val1979Leu)
NM_000489.5(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000489.5(ATRX):c.6240C>T (p.Asn2080=) rs1557069232
NM_000489.5(ATRX):c.6379G>A (p.Val2127Ile)
NM_000489.5(ATRX):c.6405C>T (p.Phe2135=) rs148659669
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.6869A>G (p.Asn2290Ser) rs368498507
NM_000489.5(ATRX):c.6927T>A (p.Ile2309=) rs1557041797
NM_000489.5(ATRX):c.6978C>A (p.Asp2326Glu) rs1569515631
NM_000489.5(ATRX):c.7083C>T (p.Asn2361=) rs3027525
NM_000489.5(ATRX):c.7379A>G (p.Tyr2460Cys)
NM_000489.5(ATRX):c.737G>T (p.Arg246Leu)
NM_000489.5(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.5(ATRX):c.798C>T (p.Tyr266=) rs376341197
NM_000489.5(ATRX):c.829G>C (p.Val277Leu) rs1569539465
NM_000489.5(ATRX):c.846C>T (p.Ser282=) rs148015780
NM_000489.5(ATRX):c.913A>G (p.Ser305Gly) rs782778928
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter) rs1060503527
NM_000969.5(RPL5):c.157_169dup (p.Asn57fs)
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_000969.5(RPL5):c.170A>G (p.Asn57Ser) rs1553285028
NM_000969.5(RPL5):c.173_174GA[1] (p.Asp59fs)
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter) rs1558284062
NM_000969.5(RPL5):c.228C>T (p.Cys76=) rs370284124
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr)
NM_000969.5(RPL5):c.256dup (p.Tyr86fs) rs1553121909
NM_000969.5(RPL5):c.258T>C (p.Tyr86=) rs113792800
NM_000969.5(RPL5):c.269T>C (p.Val90Ala)
NM_000969.5(RPL5):c.3+3G>C rs200628272
NM_000969.5(RPL5):c.325-4A>G rs183825489
NM_000969.5(RPL5):c.326T>C (p.Leu109Pro) rs878854146
NM_000969.5(RPL5):c.4-7_4-4del rs1558283792
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836
NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter)
NM_000969.5(RPL5):c.613G>A (p.Ala205Thr)
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832
NM_000969.5(RPL5):c.700G>T (p.Asp234Tyr) rs938367538
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter) rs1558283853
NM_000969.5(RPL5):c.781G>C (p.Val261Leu) rs773839391
NM_000969.5(RPL5):c.803G>A (p.Arg268His)
NM_000969.5(RPL5):c.868G>A (p.Ala290Thr) rs1060503545
NM_000975.5(RPL11):c.111del (p.Lys38fs) rs1553121684
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.24G>A (p.Lys8=) rs143617222
NM_000975.5(RPL11):c.258T>G (p.Gly86=) rs760885169
NM_000975.5(RPL11):c.264+1G>A rs1553121795
NM_000975.5(RPL11):c.300A>G (p.Ser100=) rs372622822
NM_000975.5(RPL11):c.30C>T (p.Asn10=) rs139286202
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880
NM_000975.5(RPL11):c.397-4A>G rs371228733
NM_000975.5(RPL11):c.4G>T (p.Ala2Ser) rs1553121574
NM_000975.5(RPL11):c.508-2A>G
NM_000975.5(RPL11):c.5C>T (p.Ala2Val)
NM_000975.5(RPL11):c.62_63del (p.Cys21fs)
NM_000987.5(RPL26):c.153G>A (p.Lys51=)
NM_000987.5(RPL26):c.259C>T (p.Arg87Trp) rs878854147
NM_000987.5(RPL26):c.96C>T (p.Ser32=) rs755369380
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs) rs1560120302
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter) rs1553811551
NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln) rs145244860
NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp) rs1560123334
NM_000996.4(RPL35A):c.309+4A>T rs1270507770
NM_001011.4(RPS7):c.273T>C (p.His91=) rs1442216854
NM_001011.4(RPS7):c.274_276GTC[1] (p.Val93del) rs1553342919
NM_001011.4(RPS7):c.357-3dup rs140914434
NM_001011.4(RPS7):c.433C>T (p.Arg145Cys)
NM_001011.4(RPS7):c.435C>T (p.Arg145=) rs142207795
NM_001011.4(RPS7):c.518T>C (p.Phe173Ser) rs1558474062
NM_001014.5(RPS10):c.135C>T (p.Val45=) rs148901210
NM_001014.5(RPS10):c.150+9del rs372641476
NM_001014.5(RPS10):c.204C>T (p.Tyr68=) rs368563040
NM_001014.5(RPS10):c.222G>A (p.Glu74=)
NM_001014.5(RPS10):c.231G>A (p.Gln77=) rs147863199
NM_001014.5(RPS10):c.261G>A (p.Pro87=) rs781484971
NM_001014.5(RPS10):c.285_292del (p.Arg96fs)
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753
NM_001014.5(RPS10):c.6G>A (p.Leu2=) rs146246722
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679
NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met) rs138192474
NM_001018113.3(FANCB):c.1104+4A>G rs1555906676
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1105-26TATT[7] rs398123537
NM_001018113.3(FANCB):c.1133A>C (p.Asp378Ala) rs1569088991
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile) rs771007866
NM_001018113.3(FANCB):c.1288G>A (p.Val430Ile)
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001018113.3(FANCB):c.1331A>T (p.Glu444Val)
NM_001018113.3(FANCB):c.1342C>T (p.Pro448Ser) rs867778700
NM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr) rs764817410
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001018113.3(FANCB):c.1372C>T (p.His458Tyr)
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444
NM_001018113.3(FANCB):c.1487C>T (p.Ser496Phe) rs993307430
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538
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.1658C>T (p.Thr553Met) rs146157131
NM_001018113.3(FANCB):c.1659G>A (p.Thr553=) rs767952529
NM_001018113.3(FANCB):c.1707A>G (p.Pro569=) rs1555904427
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu) rs1555904350
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761
NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu) rs147255018
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.2165+10A>T rs184385334
NM_001018113.3(FANCB):c.2168A>G (p.Asn723Ser)
NM_001018113.3(FANCB):c.2267T>C (p.Ile756Thr)
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly)
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg) rs879254329
NM_001018113.3(FANCB):c.2394C>T (p.Val798=) rs190579053
NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala) rs1020168794
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396
NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg) rs142101123
NM_001018113.3(FANCB):c.30C>A (p.Asn10Lys) rs750078094
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) rs201633684
NM_001018113.3(FANCB):c.388A>G (p.Met130Val) rs776724055
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208
NM_001018113.3(FANCB):c.477A>C (p.Lys159Asn) rs1569092592
NM_001018113.3(FANCB):c.507T>C (p.Ser169=) rs149609970
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.741C>A (p.Ile247=) rs760773732
NM_001018113.3(FANCB):c.7A>G (p.Ser3Gly) rs139111718
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg)
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) rs754552650
NM_001018113.3(FANCB):c.884G>A (p.Gly295Glu) rs1270593506
NM_001018113.3(FANCB):c.897C>T (p.Phe299=) rs753443421
NM_001018113.3(FANCB):c.898G>T (p.Val300Phe)
NM_001018113.3(FANCB):c.923C>T (p.Ala308Val)
NM_001018113.3(FANCB):c.960T>G (p.Ala320=) rs139045247
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr) rs200161949
NM_001022.4(RPS19):c.164C>T (p.Thr55Met) rs147508369
NM_001022.4(RPS19):c.173-2A>G
NM_001022.4(RPS19):c.175_176delinsCT (p.Ser59Leu)
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
NM_001022.4(RPS19):c.294_295TG[3] (p.Ala100fs) rs1555841356
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter) rs1060503688
NM_001022.4(RPS19):c.384_385del (p.Asp130fs) rs869066130
NM_001022.4(RPS19):c.410A>G (p.Gln137Arg)
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104
NM_001022.4(RPS19):c.72-10T>G rs1176399879
NM_001022.4(RPS19):c.72-1G>A
NM_001022.4(RPS19):c.72-92A>G rs566047445
NM_001022.4(RPS19):c.75C>T (p.Ser25=) rs370343297
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.220_221TG[2] (p.Val75fs) rs1555208596
NM_001029.5(RPS26):c.312G>A (p.Ala104=)
NM_001029.5(RPS26):c.327T>A (p.Arg109=) rs56696262
NM_001081.3(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947
NM_001081.3(CUBN):c.10119C>A (p.Val3373=) rs139596037
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638
NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) rs141937843
NM_001081.3(CUBN):c.10612G>A (p.Glu3538Lys)
NM_001081.3(CUBN):c.1558C>T (p.Arg520Trp) rs564637804
NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) rs12259370
NM_001081.3(CUBN):c.1999A>G (p.Thr667Ala)
NM_001081.3(CUBN):c.2306G>A (p.Arg769Gln)
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001081.3(CUBN):c.2756A>G (p.His919Arg) rs148869805
NM_001081.3(CUBN):c.2791+6A>C rs78549445
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.348+2T>C
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.4206C>T (p.Phe1402=) rs563089365
NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter)
NM_001081.3(CUBN):c.516C>T (p.Asn172=) rs576450214
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.5428C>T (p.Arg1810Ter)
NM_001081.3(CUBN):c.5459A>G (p.Tyr1820Cys)
NM_001081.3(CUBN):c.5470G>A (p.Val1824Ile)
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter) rs1564435943
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.6089G>A (p.Arg2030Gln) rs143400113
NM_001081.3(CUBN):c.6125-2A>G rs75386064
NM_001081.3(CUBN):c.6142C>G (p.Gln2048Glu) rs146995189
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.6788T>G (p.Phe2263Cys) rs2271460
NM_001081.3(CUBN):c.6833A>G (p.Asn2278Ser)
NM_001081.3(CUBN):c.6847C>T (p.Arg2283Trp)
NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.3(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389
NM_001081.3(CUBN):c.7007G>A (p.Cys2336Tyr)
NM_001081.3(CUBN):c.704G>C (p.Arg235Pro)
NM_001081.3(CUBN):c.7107G>A (p.Gly2369=) rs145537365
NM_001081.3(CUBN):c.7331G>A (p.Arg2444Gln)
NM_001081.3(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.3(CUBN):c.7390A>C (p.Thr2464Pro)
NM_001081.3(CUBN):c.7403A>G (p.Tyr2468Cys)
NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168
NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter)
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.8671G>A (p.Val2891Ile) rs150488625
NM_001081.3(CUBN):c.8680C>G (p.Pro2894Ala)
NM_001081.3(CUBN):c.8711C>T (p.Ser2904Phe)
NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) rs45551835
NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534
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.9340G>A (p.Gly3114Ser) rs117035284
NM_001081.3(CUBN):c.9555T>G (p.Cys3185Trp)
NM_001081.3(CUBN):c.963C>T (p.Pro321=) rs150309054
NM_001081.3(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427
NM_001082486.1(ACD):c.137delG (p.Arg46Leufs) rs753666055
NM_001082486.1(ACD):c.14G>A (p.Cys5Tyr) rs1555542868
NM_001082486.1(ACD):c.162C>T (p.Pro54=) rs73597595
NM_001082486.1(ACD):c.179T>G (p.Leu60Arg) rs753367228
NM_001082486.2(ACD):c.-188_-187inv (p.Trp24Ser)
NM_001082486.2(ACD):c.-37C>T rs1377497479
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.1207-10C>T rs67185288
NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser) rs201926842
NM_001082486.2(ACD):c.132C>T (p.Gly44=) rs138527794
NM_001082486.2(ACD):c.1371G>T (p.Pro457=) rs14920
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469
NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys)
NM_001082486.2(ACD):c.413+7G>A rs1017802690
NM_001082486.2(ACD):c.444C>T (p.Leu148=) rs151132164
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu)
NM_001082486.2(ACD):c.4G>C (p.Ala2Pro)
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala) rs139438549
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.801C>T (p.Ala267=) rs72549181
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu)
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln) rs142507451
NM_001082486.2(ACD):c.819C>T (p.Pro273=) rs138740815
NM_001082486.2(ACD):c.830-1G>A
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu) rs147189192
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.1010del (p.Gly337fs) rs756029660
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.1090dup (p.Leu364fs) rs1566366182
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) rs10141326
NM_001099274.3(TINF2):c.1156G>A (p.Val386Ile)
NM_001099274.3(TINF2):c.115C>G (p.Arg39Gly)
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr) rs192423622
NM_001099274.3(TINF2):c.1222G>C (p.Glu408Gln)
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=) rs117234138
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.159C>T (p.His53=) rs370875792
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.359A>G (p.Gln120Arg) rs189265179
NM_001099274.3(TINF2):c.400-9C>T rs201087708
NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe)
NM_001099274.3(TINF2):c.45C>T (p.Ala15=) rs750285418
NM_001099274.3(TINF2):c.520C>T (p.Leu174=) rs374116388
NM_001099274.3(TINF2):c.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.710G>A (p.Gly237Asp) rs17102313
NM_001099274.3(TINF2):c.718C>T (p.Leu240Phe)
NM_001099274.3(TINF2):c.721C>T (p.Pro241Ser) rs17102311
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869
NM_001099274.3(TINF2):c.743C>T (p.Thr248Met) rs552794694
NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala) rs202093758
NM_001099274.3(TINF2):c.771C>T (p.His257=) rs75124018
NM_001099274.3(TINF2):c.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_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741
NM_001113378.1(FANCI):c.1028_1030TCC[1] (p.Leu344del)
NM_001113378.1(FANCI):c.1102G>A (p.Val368Met) rs1060501897
NM_001113378.1(FANCI):c.1111A>G (p.Ser371Gly) rs149008055
NM_001113378.1(FANCI):c.1112+3A>G rs367970067
NM_001113378.1(FANCI):c.1114G>A (p.Val372Ile) rs76788798
NM_001113378.1(FANCI):c.1179T>C (p.Tyr393=) rs3743377
NM_001113378.1(FANCI):c.1200T>C (p.Asp400=) rs763959132
NM_001113378.1(FANCI):c.1211T>C (p.Ile404Thr) rs79080874
NM_001113378.1(FANCI):c.1250A>G (p.His417Arg)
NM_001113378.1(FANCI):c.1264G>A (p.Gly422Arg) rs146040966
NM_001113378.1(FANCI):c.1278G>T (p.Leu426=) rs1060504377
NM_001113378.1(FANCI):c.1294-8C>T rs16942931
NM_001113378.1(FANCI):c.1294-9_1294-8insA rs1555445524
NM_001113378.1(FANCI):c.1326G>A (p.Glu442=) rs34405660
NM_001113378.1(FANCI):c.1399G>A (p.Val467Ile) rs199726965
NM_001113378.1(FANCI):c.1412C>G (p.Pro471Arg) rs139072231
NM_001113378.1(FANCI):c.1418T>G (p.Val473Gly)
NM_001113378.1(FANCI):c.1420C>A (p.Leu474Ile) rs746777753
NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873
NM_001113378.1(FANCI):c.1491A>G (p.Gln497=) rs145349375
NM_001113378.1(FANCI):c.1531A>C (p.Met511Leu)
NM_001113378.1(FANCI):c.1556T>C (p.Leu519Pro) rs998713167
NM_001113378.1(FANCI):c.1564C>A (p.Arg522=) rs371568506
NM_001113378.1(FANCI):c.1564C>T (p.Arg522Trp) rs371568506
NM_001113378.1(FANCI):c.157+7A>G rs145165730
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) rs144908351
NM_001113378.1(FANCI):c.158G>C (p.Gly53Ala) rs149223439
NM_001113378.1(FANCI):c.164C>T (p.Pro55Leu) rs62020347
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.1680G>A (p.Gln560=) rs1181466139
NM_001113378.1(FANCI):c.1699-3C>G rs372441627
NM_001113378.1(FANCI):c.1699-7C>A rs28446881
NM_001113378.1(FANCI):c.1703A>G (p.His568Arg) rs555480773
NM_001113378.1(FANCI):c.1704T>C (p.His568=) rs200990786
NM_001113378.1(FANCI):c.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.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.1(FANCI):c.1822-7del rs1457763718
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.1891-6A>G rs878854175
NM_001113378.1(FANCI):c.1893A>C (p.Leu631Phe) rs118138806
NM_001113378.1(FANCI):c.1904A>G (p.Tyr635Cys) rs764435343
NM_001113378.1(FANCI):c.1923G>A (p.Leu641=) rs750462548
NM_001113378.1(FANCI):c.1939T>C (p.Leu647=) rs150231327
NM_001113378.1(FANCI):c.1963G>A (p.Gly655Arg) rs138026584
NM_001113378.1(FANCI):c.1972A>T (p.Ile658Phe)
NM_001113378.1(FANCI):c.1992+10T>C rs375345390
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) rs139814895
NM_001113378.1(FANCI):c.2017C>T (p.His673Tyr) rs763866498
NM_001113378.1(FANCI):c.2023T>C (p.Leu675=) rs144800324
NM_001113378.1(FANCI):c.2026G>T (p.Ala676Ser) rs756986642
NM_001113378.1(FANCI):c.2028C>T (p.Ala676=) rs16942969
NM_001113378.1(FANCI):c.2033A>G (p.Tyr678Cys) rs916935359
NM_001113378.1(FANCI):c.2056C>A (p.Gln686Lys) rs28378332
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.2097C>T (p.Tyr699=) rs148415946
NM_001113378.1(FANCI):c.2098G>A (p.Glu700Lys)
NM_001113378.1(FANCI):c.2131A>T (p.Asn711Tyr) rs766073258
NM_001113378.1(FANCI):c.2167C>T (p.Leu723=) rs878854177
NM_001113378.1(FANCI):c.2170-4T>C rs1167442446
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.2367G>T (p.Ala789=) rs11857960
NM_001113378.1(FANCI):c.236G>A (p.Gly79Glu) rs1415605220
NM_001113378.1(FANCI):c.2393A>G (p.Asn798Ser)
NM_001113378.1(FANCI):c.2406T>C (p.Asp802=) rs147934193
NM_001113378.1(FANCI):c.2422A>T (p.Lys808Ter) rs375656231
NM_001113378.1(FANCI):c.2434A>G (p.Ser812Gly) rs768500794
NM_001113378.1(FANCI):c.2455A>G (p.Arg819Gly)
NM_001113378.1(FANCI):c.2487T>G (p.Leu829=) rs145762491
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.2547A>G (p.Lys849=) rs7183618
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) rs118031800
NM_001113378.1(FANCI):c.2614C>G (p.Gln872Glu) rs1368909419
NM_001113378.1(FANCI):c.2646A>G (p.Leu882=) rs199627578
NM_001113378.1(FANCI):c.2684C>T (p.Ser895Leu)
NM_001113378.1(FANCI):c.2776A>C (p.Lys926Gln)
NM_001113378.1(FANCI):c.2781T>A (p.Ile927=) rs771106622
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.2817G>T (p.Lys939Asn) rs145192583
NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) rs79685648
NM_001113378.1(FANCI):c.2833G>C (p.Glu945Gln) rs142322239
NM_001113378.1(FANCI):c.2845G>A (p.Val949Ile)
NM_001113378.1(FANCI):c.2849G>T (p.Ser950Ile) rs760327010
NM_001113378.1(FANCI):c.284T>A (p.Leu95Gln) rs201553891
NM_001113378.1(FANCI):c.2855_2869delinsTTG (p.Thr952_Phe957delinsIleVal) rs1555448946
NM_001113378.1(FANCI):c.286G>A (p.Glu96Lys) rs149243307
NM_001113378.1(FANCI):c.288+3A>G rs538283826
NM_001113378.1(FANCI):c.2883A>G (p.Gln961=) rs11556721
NM_001113378.1(FANCI):c.2907A>C (p.Leu969Phe) rs568094959
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.2995_2999TCCTC[1] (p.Pro1001fs)
NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) rs138675752
NM_001113378.1(FANCI):c.3016A>G (p.Met1006Val)
NM_001113378.1(FANCI):c.3053G>A (p.Ser1018Asn)
NM_001113378.1(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939
NM_001113378.1(FANCI):c.3056G>A (p.Arg1019Gln)
NM_001113378.1(FANCI):c.3103C>T (p.Leu1035=) rs34462132
NM_001113378.1(FANCI):c.3186+3A>G
NM_001113378.1(FANCI):c.3220A>T (p.Ile1074Leu)
NM_001113378.1(FANCI):c.3236C>T (p.Thr1079Met) rs191202700
NM_001113378.1(FANCI):c.3241G>A (p.Ala1081Thr) rs375746069
NM_001113378.1(FANCI):c.3255+6dup rs878854178
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.3384G>A (p.Gln1128=) rs988319051
NM_001113378.1(FANCI):c.3389T>A (p.Val1130Asp) rs764412863
NM_001113378.1(FANCI):c.33A>G (p.Glu11=) rs878854180
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.3493del (p.Asp1165fs) rs758597713
NM_001113378.1(FANCI):c.3499T>G (p.Cys1167Gly)
NM_001113378.1(FANCI):c.3505A>T (p.Met1169Leu)
NM_001113378.1(FANCI):c.3525C>A (p.Ala1175=) rs114810692
NM_001113378.1(FANCI):c.3592-8T>C rs185599057
NM_001113378.1(FANCI):c.3604G>C (p.Gly1202Arg)
NM_001113378.1(FANCI):c.3624_3625GT[1] (p.Cys1209fs) rs770318990
NM_001113378.1(FANCI):c.3652-10A>G rs202231175
NM_001113378.1(FANCI):c.3652-6C>G rs752433847
NM_001113378.1(FANCI):c.3652-9T>C rs971308997
NM_001113378.1(FANCI):c.3660T>C (p.Ser1220=) rs116380142
NM_001113378.1(FANCI):c.3662del (p.Lys1221fs) rs1567179036
NM_001113378.1(FANCI):c.3665G>A (p.Ser1222Asn) rs746232111
NM_001113378.1(FANCI):c.3669_3672dup (p.Tyr1225fs)
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.3780T>A (p.Tyr1260Ter) rs1060501900
NM_001113378.1(FANCI):c.3832C>T (p.His1278Tyr) rs776134519
NM_001113378.1(FANCI):c.3834C>T (p.His1278=) rs1450412741
NM_001113378.1(FANCI):c.3846C>T (p.Ser1282=) rs34557339
NM_001113378.1(FANCI):c.3865A>G (p.Ile1289Val) rs114549781
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.3924+1G>A rs864622739
NM_001113378.1(FANCI):c.3925-4C>T rs765962856
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.446-6T>G rs377255054
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.507G>A (p.Trp169Ter) rs878854181
NM_001113378.1(FANCI):c.528A>G (p.Gln176=) rs145939211
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.670-8_670-6del rs747690719
NM_001113378.1(FANCI):c.753C>T (p.Asp251=) rs151169233
NM_001113378.1(FANCI):c.756-4T>G rs1332788738
NM_001113378.1(FANCI):c.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.868G>A (p.Val290Met) rs113772230
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_001113378.1(FANCI):c.993G>A (p.Lys331=) rs146916445
NM_001142283.1(RPS24):c.13-3C>A rs7899453
NM_001142283.1(RPS24):c.13_14del (p.Val5fs)
NM_001193376.2(TERT):c.2782-4_2782-3del
NM_001283009.1(RTEL1):c.3692C>T (p.Thr1231Met) rs144477693
NM_001283009.1(RTEL1):c.3693G>A (p.Thr1231=) rs181080831
NM_001283009.1(RTEL1):c.3701C>T (p.Pro1234Leu)
NM_001283009.1(RTEL1):c.3713_3714TC[1] (p.Ala1240fs)
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674
NM_001283010.1(RTEL1):c.232_250+72del
NM_001363.5(DKC1):c.1039A>G (p.Ile347Val) rs1248744087
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.1317C>T (p.Ala439=) rs143207180
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.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.1494_1496GAA[4] (p.Lys503_Lys505del) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[6] (p.Lys505del) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[8] (p.Lys505dup) rs782576893
NM_001363.5(DKC1):c.1494_1496GAA[9] (p.Lys504_Lys505dup) rs782576893
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr) rs1569558474
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.369= (p.Thr123=) rs2728532
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.776A>C (p.His259Pro) rs61757608
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772
NM_001363.5(DKC1):c.84+10A>T rs782718798
NM_002049.3(GATA1):c.113C>T (p.Pro38Leu) rs372131208
NM_002049.3(GATA1):c.163G>A (p.Ala55Thr) rs150572851
NM_002049.3(GATA1):c.166_187dup (p.Tyr63fs)
NM_002049.3(GATA1):c.212A>G (p.His71Arg) rs374300356
NM_002049.3(GATA1):c.21del (p.Ser8fs) rs1557020001
NM_002049.3(GATA1):c.220+1G>C rs1569499366
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.5_8dup (p.Phe3fs)
NM_002049.3(GATA1):c.64G>A (p.Ala22Thr) rs782188059
NM_002049.3(GATA1):c.752_754delinsTT (p.Ser251fs)
NM_002049.3(GATA1):c.892C>T (p.Arg298Trp) rs1060501251
NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002049.3(GATA1):c.94G>A (p.Val32Ile) rs782698349
NM_002049.3(GATA1):c.94dup (p.Val32fs) rs1569499310
NM_002454.2(MTRR):c.1678_1681delGAGA (p.Glu560Asnfs) rs768980918
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.1183_1184del (p.Ser395fs)
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu) rs769915505
NM_002454.3(MTRR):c.1464A>G (p.Val488=) rs35890938
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) rs41283145
NM_002454.3(MTRR):c.1536C>T (p.Ser512=) rs34172797
NM_002454.3(MTRR):c.1653G>A (p.Pro551=) rs139206262
NM_002454.3(MTRR):c.1677-2dup
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544
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.210C>G (p.Arg70=) rs41282641
NM_002454.3(MTRR):c.270del (p.Tyr91fs)
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr) rs2303080
NM_002454.3(MTRR):c.828G>A (p.Val276=) rs115289458
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.903+469T>C
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)
NM_002582.4(PARN):c.1102A>T (p.Ser368Cys) rs138984302
NM_002582.4(PARN):c.1219C>G (p.His407Asp)
NM_002582.4(PARN):c.1263-8T>G rs182460499
NM_002582.4(PARN):c.1297C>G (p.Leu433Val)
NM_002582.4(PARN):c.1351A>G (p.Thr451Ala)
NM_002582.4(PARN):c.1377C>T (p.Ser459=) rs530411927
NM_002582.4(PARN):c.1383T>C (p.Leu461=) rs143472178
NM_002582.4(PARN):c.1405+3A>G
NM_002582.4(PARN):c.1406-9C>T rs530099133
NM_002582.4(PARN):c.1491C>T (p.Thr497=) rs750683123
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.1690G>A (p.Val564Ile) rs35722504
NM_002582.4(PARN):c.1697A>G (p.Lys566Arg) rs1567284498
NM_002582.4(PARN):c.1741G>A (p.Gly581Arg) rs75007073
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.210C>A (p.Gly70=) rs748166497
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.465T>C (p.Gly155=) rs1555508032
NM_002582.4(PARN):c.466G>T (p.Ala156Ser)
NM_002582.4(PARN):c.563dup (p.Glu189fs) rs878853260
NM_002582.4(PARN):c.702+5C>T
NM_002582.4(PARN):c.703-6T>C rs370304152
NM_002582.4(PARN):c.7A>G (p.Ile3Val) rs1567474981
NM_002582.4(PARN):c.840+6del rs531994703
NM_002582.4(PARN):c.853A>G (p.Ile285Val)
NM_002582.4(PARN):c.924A>C (p.Leu308Phe)
NM_004629.1(FANCG):c.1017T>C (p.His339=) rs764465471
NM_004629.1(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.1(FANCG):c.1077-2A>G rs769547477
NM_004629.1(FANCG):c.107C>T (p.Thr36Ile)
NM_004629.1(FANCG):c.1126G>T (p.Asp376Tyr)
NM_004629.1(FANCG):c.1133C>T (p.Ser378Leu) rs4986939
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.1216del (p.Gln406fs)
NM_004629.1(FANCG):c.1268G>A (p.Arg423His) rs757276792
NM_004629.1(FANCG):c.1298G>A (p.Arg433Gln)
NM_004629.1(FANCG):c.1365C>A (p.Thr455=) rs767385265
NM_004629.1(FANCG):c.1367A>T (p.His456Leu)
NM_004629.1(FANCG):c.1433+9G>A rs187315404
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+1G>C rs149616199
NM_004629.1(FANCG):c.1480+5T>G rs1554670176
NM_004629.1(FANCG):c.1510A>C (p.Lys504Gln) rs1304316655
NM_004629.1(FANCG):c.1538G>A (p.Arg513Gln) rs17885240
NM_004629.1(FANCG):c.1545C>T (p.Ala515=) rs201422773
NM_004629.1(FANCG):c.156dup (p.Leu53fs) rs863224506
NM_004629.1(FANCG):c.1573del (p.Trp524_Val525insTer)
NM_004629.1(FANCG):c.1578C>T (p.Ala526=) rs1060504371
NM_004629.1(FANCG):c.158T>G (p.Leu53Arg) rs756388446
NM_004629.1(FANCG):c.1595A>G (p.Lys532Arg)
NM_004629.1(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.1(FANCG):c.1626G>C (p.Gln542His) rs1060501867
NM_004629.1(FANCG):c.1636+5G>A rs748961871
NM_004629.1(FANCG):c.1638T>C (p.Gly546=) rs45537335
NM_004629.1(FANCG):c.1642C>T (p.Arg548Ter)
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.1747G>T (p.Glu583Ter) rs786204205
NM_004629.1(FANCG):c.175+4G>C rs1060501869
NM_004629.1(FANCG):c.1767C>T (p.Leu589=) rs1060504369
NM_004629.1(FANCG):c.1768C>G (p.Pro590Ala)
NM_004629.1(FANCG):c.1774T>C (p.Tyr592His) rs768325047
NM_004629.1(FANCG):c.177G>A (p.Gly59=) rs1554670511
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.1(FANCG):c.1801C>T (p.Arg601Cys)
NM_004629.1(FANCG):c.1806C>T (p.Pro602=) rs756632525
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.20C>T (p.Ser7Phe) rs35984312
NM_004629.1(FANCG):c.238C>T (p.Leu80=) rs115131067
NM_004629.1(FANCG):c.293G>A (p.Arg98Gln) rs372854981
NM_004629.1(FANCG):c.313G>T (p.Glu105Ter) rs121434425
NM_004629.1(FANCG):c.333G>A (p.Gly111=) rs1060504370
NM_004629.1(FANCG):c.338G>A (p.Arg113Lys) rs778894219
NM_004629.1(FANCG):c.345A>G (p.Glu115=) rs1213271836
NM_004629.1(FANCG):c.366G>C (p.Trp122Cys) rs546023787
NM_004629.1(FANCG):c.373_375dup (p.Val125dup) rs750843326
NM_004629.1(FANCG):c.375C>A (p.Val125=) rs199754122
NM_004629.1(FANCG):c.375C>G (p.Val125=) rs199754122
NM_004629.1(FANCG):c.380G>A (p.Arg127His)
NM_004629.1(FANCG):c.399G>A (p.Pro133=) rs200278002
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.558C>G (p.Pro186=) rs1554670415
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.640C>T (p.Arg214Cys) rs61757385
NM_004629.1(FANCG):c.652C>T (p.Gln218Ter) rs1209807088
NM_004629.1(FANCG):c.705G>A (p.Ala235=) rs148910563
NM_004629.1(FANCG):c.722C>T (p.Pro241Leu) rs201438531
NM_004629.1(FANCG):c.730G>A (p.Val244Met) rs746248064
NM_004629.1(FANCG):c.739C>A (p.Gln247Lys) rs145613634
NM_004629.1(FANCG):c.743T>C (p.Val248Ala) rs1221668009
NM_004629.1(FANCG):c.766C>T (p.His256Tyr)
NM_004629.1(FANCG):c.777+1G>A rs1060501862
NM_004629.1(FANCG):c.778-1G>A rs767518932
NM_004629.1(FANCG):c.787C>G (p.Gln263Glu)
NM_004629.1(FANCG):c.81C>T (p.Ala27=) rs1060504372
NM_004629.1(FANCG):c.881G>A (p.Gly294Glu) rs17880082
NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) rs2237857
NM_004629.1(FANCG):c.908T>C (p.Leu303Pro) rs1563986439
NM_004629.1(FANCG):c.927C>G (p.Ala309=) rs370002843
NM_004629.1(FANCG):c.968T>C (p.Ile323Thr) rs752346718
NM_004629.1(FANCG):c.988C>T (p.Pro330Ser) rs4986940
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp) rs147795328
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
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.1588C>T (p.Gln530Ter)
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg)
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344
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_005050.4(ABCD4):c.57A>G (p.Gln19=) rs574817590
NM_005050.4(ABCD4):c.669-11_669-8del rs373949463
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.183_186del (p.Met61fs) rs765896727
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.764A>G (p.Asn255Ser) rs35867471
NM_005142.3(CBLIF):c.79+1G>A rs147785187
NM_005142.3(CBLIF):c.829G>C (p.Gly277Arg)
NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser) rs150926439
NM_005142.3(CBLIF):c.990C>T (p.Asn330=) rs2867802
NM_005236.2(ERCC4):c.1031A>T (p.Tyr344Phe) rs145851520
NM_005236.2(ERCC4):c.1045G>A (p.Ala349Thr)
NM_005236.2(ERCC4):c.1123C>T (p.Leu375=) rs376695854
NM_005236.2(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802
NM_005236.2(ERCC4):c.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.1415C>T (p.Pro472Leu) rs572439259
NM_005236.2(ERCC4):c.1446A>G (p.Glu482=) rs114077770
NM_005236.2(ERCC4):c.1488A>T (p.Gln496His) rs146601373
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.1677T>C (p.Gly559=) rs776049363
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.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.2(ERCC4):c.1787C>A (p.Ala596Glu)
NM_005236.2(ERCC4):c.1812-5T>C rs2020952
NM_005236.2(ERCC4):c.1884A>G (p.Glu628=) rs2020958
NM_005236.2(ERCC4):c.1899C>G (p.Leu633=) rs954215121
NM_005236.2(ERCC4):c.1899C>T (p.Leu633=) rs954215121
NM_005236.2(ERCC4):c.1983A>G (p.Ala661=) rs373237850
NM_005236.2(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955
NM_005236.2(ERCC4):c.19G>A (p.Ala7Thr)
NM_005236.2(ERCC4):c.2046A>G (p.Gln682=) rs565249189
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.228G>A (p.Leu76=) rs61760162
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.241G>T (p.Val81Phe) rs55761944
NM_005236.2(ERCC4):c.2423C>G (p.Ala808Gly)
NM_005236.2(ERCC4):c.2427G>A (p.Thr809=) rs2020960
NM_005236.2(ERCC4):c.2463A>G (p.Pro821=) rs2020953
NM_005236.2(ERCC4):c.252C>T (p.Leu84=) rs3136056
NM_005236.2(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605
NM_005236.2(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933
NM_005236.2(ERCC4):c.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.2617A>G (p.Ile873Val) rs2020957
NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124
NM_005236.2(ERCC4):c.2655G>A (p.Thr885=) rs16963255
NM_005236.2(ERCC4):c.2677A>G (p.Asn893Asp)
NM_005236.2(ERCC4):c.2724C>T (p.Val908=) rs3136225
NM_005236.2(ERCC4):c.2725G>A (p.Val909Ile)
NM_005236.2(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735
NM_005236.2(ERCC4):c.325G>A (p.Ala109Thr) rs148791570
NM_005236.2(ERCC4):c.33C>T (p.Ala11=) rs3136042
NM_005236.2(ERCC4):c.372T>C (p.Pro124=) rs780096152
NM_005236.2(ERCC4):c.389-5C>T rs377224276
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.718C>T (p.Leu240=) rs746904084
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_005236.2(ERCC4):c.974-7_974-6invGT
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) rs1557115422
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His)
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) rs199611189
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.4442C>T (p.Thr1481Met) rs199798029
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=)
NM_005334.3(HCFC1):c.5391_5393GCC[1] (p.Pro1801del)
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012
NM_005373.2(MPL):c.1069C>T (p.Arg357Ter)
NM_005373.2(MPL):c.1120A>G (p.Thr374Ala) rs190983971
NM_005373.2(MPL):c.1178C>T (p.Thr393Ile)
NM_005373.2(MPL):c.117G>T (p.Lys39Asn) rs17292650
NM_005373.2(MPL):c.1194G>A (p.Trp398Ter)
NM_005373.2(MPL):c.1309-10C>T rs139486615
NM_005373.2(MPL):c.1460C>T (p.Thr487Ile)
NM_005373.2(MPL):c.1462G>T (p.Glu488Ter)
NM_005373.2(MPL):c.1473G>C (p.Trp491Cys)
NM_005373.2(MPL):c.1565+5C>T rs41269541
NM_005373.2(MPL):c.1653+3G>A rs149625825
NM_005373.2(MPL):c.1654-10T>A rs200460456
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.1794C>T (p.Cys598=) rs143457144
NM_005373.2(MPL):c.1803C>T (p.Thr601=) rs140794721
NM_005373.2(MPL):c.1805T>C (p.Met602Thr)
NM_005373.2(MPL):c.212G>A (p.Arg71Gln) rs368753117
NM_005373.2(MPL):c.235_236del (p.Leu79fs) rs587778514
NM_005373.2(MPL):c.304C>T (p.Arg102Cys)
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_005373.2(MPL):c.311T>C (p.Phe104Ser)
NM_005373.2(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.2(MPL):c.340G>A (p.Val114Met) rs12731981
NM_005373.2(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.2(MPL):c.543T>C (p.Gly181=) rs17572791
NM_005373.2(MPL):c.655C>G (p.Gln219Glu) rs142737453
NM_005373.2(MPL):c.677C>A (p.Ser226Tyr) rs141063159
NM_005373.2(MPL):c.690A>G (p.Glu230=) rs16830693
NM_005373.2(MPL):c.771C>A (p.Arg257=) rs1553127722
NM_005373.2(MPL):c.79+2T>A rs146249964
NM_005373.2(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.2(MPL):c.92T>C (p.Leu31Pro) rs878854771
NM_005373.2(MPL):c.981-1G>C
NM_006363.6(SEC23B):c.1233+4C>T
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp) rs147410912
NM_006363.6(SEC23B):c.1404+5G>A rs1555789463
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter) rs1568617456
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459
NM_006363.6(SEC23B):c.1665+6T>C
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer) rs1555788144
NM_006363.6(SEC23B):c.66C>T (p.Asn22=) rs144542988
NM_006363.6(SEC23B):c.689+1G>A rs398124226
NM_006363.6(SEC23B):c.816del (p.Ile272fs) rs1568606490
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.1043C>T (p.Pro348Leu) rs34676691
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.1159A>G (p.Lys387Glu) rs104895501
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.120T>C (p.Asp40=) rs143261167
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.1329C>A (p.Ser443=) rs759651506
NM_014646.2(LPIN2):c.1339G>A (p.Val447Met) rs373758040
NM_014646.2(LPIN2):c.1367C>T (p.Thr456Ile)
NM_014646.2(LPIN2):c.147C>T (p.His49=) rs17886056
NM_014646.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500
NM_014646.2(LPIN2):c.1514T>C (p.Ile505Thr) rs146424724
NM_014646.2(LPIN2):c.1522C>T (p.Pro508Ser)
NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314
NM_014646.2(LPIN2):c.1796C>T (p.Pro599Leu) rs372850864
NM_014646.2(LPIN2):c.1800C>T (p.Ala600=) rs369572309
NM_014646.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393
NM_014646.2(LPIN2):c.1867C>T (p.Pro623Ser) rs143090653
NM_014646.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357
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.2086_2087+39del
NM_014646.2(LPIN2):c.2088G>A (p.Lys696=) rs778440902
NM_014646.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442
NM_014646.2(LPIN2):c.2224G>A (p.Asp742Asn) rs779538504
NM_014646.2(LPIN2):c.2237G>A (p.Gly746Asp) rs1555672260
NM_014646.2(LPIN2):c.2316C>A (p.Ser772=) rs145270447
NM_014646.2(LPIN2):c.2371C>T (p.Leu791=) rs373520277
NM_014646.2(LPIN2):c.2409G>C (p.Gln803His) rs876660987
NM_014646.2(LPIN2):c.2420C>T (p.Ala807Val)
NM_014646.2(LPIN2):c.2443-9C>T rs191749331
NM_014646.2(LPIN2):c.2569G>T (p.Val857Leu) rs1346809433
NM_014646.2(LPIN2):c.2583C>T (p.Phe861=) rs141043192
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.582G>A (p.Gln194=) rs1555677025
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.589C>T (p.Arg197Ter)
NM_014646.2(LPIN2):c.590+6A>G rs73375280
NM_014646.2(LPIN2):c.698C>T (p.Thr233Ile)
NM_014646.2(LPIN2):c.71A>G (p.Gln24Arg) rs1568575278
NM_014646.2(LPIN2):c.755C>T (p.Ala252Val)
NM_014646.2(LPIN2):c.802G>A (p.Gly268Arg)
NM_014646.2(LPIN2):c.87G>A (p.Gly29=) rs1346313879
NM_014646.2(LPIN2):c.907A>C (p.Ser303Arg)
NM_014646.2(LPIN2):c.970A>T (p.Ile324Leu) rs1476358117
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.2(MMACHC):c.482G>A rs121918243
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272
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.1A>G (p.Met1Val) rs758477536
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.382_384TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn)
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
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.481C>T (p.Arg161Ter) rs370596113
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)
NM_015506.3(MMACHC):c.545_546GT[1] (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)
NM_015702.3(MMADHC):c.154+1G>A
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs)
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys)
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)
NM_015702.3(MMADHC):c.478+6T>G rs13402787
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442
NM_016434.3(RTEL1):c.1001_1014del (p.Leu334fs)
NM_016434.3(RTEL1):c.1002G>T (p.Leu334=) rs1555902826
NM_016434.3(RTEL1):c.1017C>T (p.Ser339=) rs35877957
NM_016434.3(RTEL1):c.103-6G>A rs57695352
NM_016434.3(RTEL1):c.1074G>A (p.Thr358=) rs375256851
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.1192-9del rs200008996
NM_016434.3(RTEL1):c.120G>A (p.Leu40=) rs1555899465
NM_016434.3(RTEL1):c.1236A>G (p.Pro412=) rs914576910
NM_016434.3(RTEL1):c.1260C>T (p.Ser420=) rs188479221
NM_016434.3(RTEL1):c.1301C>T (p.Thr434Met)
NM_016434.3(RTEL1):c.1349-9G>A rs772899702
NM_016434.3(RTEL1):c.1476G>T (p.Met492Ile) rs370343781
NM_016434.3(RTEL1):c.1477C>G (p.Gln493Glu) rs372871657
NM_016434.3(RTEL1):c.1482-6G>A rs76364377
NM_016434.3(RTEL1):c.1482-9C>A
NM_016434.3(RTEL1):c.1548C>T (p.Val516=) rs116057134
NM_016434.3(RTEL1):c.1583C>A (p.Ala528Glu) rs760398738
NM_016434.3(RTEL1):c.1595+9C>T rs370145267
NM_016434.3(RTEL1):c.1596-1_1596delinsAA
NM_016434.3(RTEL1):c.1596-8G>A rs374702981
NM_016434.3(RTEL1):c.1596-9C>T rs200803729
NM_016434.3(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645
NM_016434.3(RTEL1):c.1650C>T (p.Arg550=) rs147825631
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.1727G>A (p.Arg576His) rs115423936
NM_016434.3(RTEL1):c.1728C>T (p.Arg576=)
NM_016434.3(RTEL1):c.1742A>G (p.Lys581Arg)
NM_016434.3(RTEL1):c.1761G>A (p.Pro587=) rs116900568
NM_016434.3(RTEL1):c.1800+4G>C
NM_016434.3(RTEL1):c.1800+8C>T rs765664650
NM_016434.3(RTEL1):c.1830C>T (p.Ala610=) rs140738232
NM_016434.3(RTEL1):c.1940C>T (p.Pro647Leu) rs1177091623
NM_016434.3(RTEL1):c.1951C>T (p.Arg651Cys)
NM_016434.3(RTEL1):c.1953C>T (p.Arg651=) rs79210260
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.2051G>A (p.Arg684Gln) rs35640778
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.2145C>T (p.Phe715=) rs762607146
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.2310_2312AGA[1] (p.Glu771del) rs558133631
NM_016434.3(RTEL1):c.2325C>T (p.Ser775=) rs138950475
NM_016434.3(RTEL1):c.2358C>T (p.Thr786=) rs202106904
NM_016434.3(RTEL1):c.2414-10G>A
NM_016434.3(RTEL1):c.2414-6C>T rs376868750
NM_016434.3(RTEL1):c.2427C>T (p.Ala809=) rs767770069
NM_016434.3(RTEL1):c.2434C>A (p.Pro812Thr)
NM_016434.3(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578
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.2546G>A (p.Gly849Asp) rs190887884
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.2661C>A (p.Pro887=) rs3848671
NM_016434.3(RTEL1):c.2661C>T (p.Pro887=) rs3848671
NM_016434.3(RTEL1):c.2662G>A (p.Val888Met)
NM_016434.3(RTEL1):c.2678C>T (p.Thr893Met) rs141717966
NM_016434.3(RTEL1):c.2707G>A (p.Val903Met)
NM_016434.3(RTEL1):c.2761G>C (p.Asp921His)
NM_016434.3(RTEL1):c.2775C>T (p.Ser925=) rs12480346
NM_016434.3(RTEL1):c.2776G>A (p.Asp926Asn)
NM_016434.3(RTEL1):c.2782T>G (p.Phe928Val)
NM_016434.3(RTEL1):c.2785G>A (p.Ala929Thr) rs61736615
NM_016434.3(RTEL1):c.2787C>T (p.Ala929=) rs115030322
NM_016434.3(RTEL1):c.2788G>A (p.Ala930Thr)
NM_016434.3(RTEL1):c.2796C>T (p.Ala932=) rs143740470
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.2812del (p.Leu938fs) rs1449687529
NM_016434.3(RTEL1):c.2823G>C (p.Glu941Asp) rs61736614
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.2898G>C (p.Glu966Asp) rs115464632
NM_016434.3(RTEL1):c.2899G>C (p.Val967Leu)
NM_016434.3(RTEL1):c.2915C>T (p.Thr972Ile)
NM_016434.3(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017
NM_016434.3(RTEL1):c.2921G>A (p.Arg974Gln)
NM_016434.3(RTEL1):c.2975C>T (p.Pro992Leu) rs143967591
NM_016434.3(RTEL1):c.2981T>C (p.Leu994Pro)
NM_016434.3(RTEL1):c.3006G>A (p.Pro1002=) rs201351158
NM_016434.3(RTEL1):c.301+7C>T rs200648296
NM_016434.3(RTEL1):c.3026C>T (p.Ser1009Phe)
NM_016434.3(RTEL1):c.3049G>A (p.Asp1017Asn) rs61736617
NM_016434.3(RTEL1):c.3056A>G (p.Gln1019Arg) rs116053476
NM_016434.3(RTEL1):c.3063C>A (p.His1021Gln)
NM_016434.3(RTEL1):c.3089C>T (p.Ser1030Leu)
NM_016434.3(RTEL1):c.3101C>A (p.Pro1034His) rs115610405
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.3175G>A (p.Ala1059Thr) rs115303435
NM_016434.3(RTEL1):c.3178G>A (p.Val1060Met)
NM_016434.3(RTEL1):c.3219C>T (p.Ser1073=) rs376151757
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>A (p.Arg1138=) rs6062495
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.3630C>T (p.His1210=) rs564198378
NM_016434.3(RTEL1):c.3653-120C>T rs373109673
NM_016434.3(RTEL1):c.3653-5C>G rs141522376
NM_016434.3(RTEL1):c.370A>G (p.Asn124Asp) rs1569080038
NM_016434.3(RTEL1):c.396-79C>T rs776396450
NM_016434.3(RTEL1):c.454A>G (p.Lys152Glu)
NM_016434.3(RTEL1):c.500T>G (p.Val167Gly)
NM_016434.3(RTEL1):c.535G>T (p.Glu179Ter) rs1555899932
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.786G>A (p.Ser262=) rs6011020
NM_016434.3(RTEL1):c.860C>T (p.Thr287Ile)
NM_016434.3(RTEL1):c.879T>C (p.Gly293=) rs6010616
NM_016434.3(RTEL1):c.898A>T (p.Ser300Cys)
NM_016434.3(RTEL1):c.8A>C (p.Lys3Thr)
NM_016434.3(RTEL1):c.936G>A (p.Leu312=) rs41302954
NM_016434.3(RTEL1):c.940G>A (p.Asp314Asn) rs758615955
NM_016434.3(RTEL1):c.958+3A>G
NM_016434.3(RTEL1):c.959T>C (p.Met320Thr) rs143550996
NM_016434.3(RTEL1):c.971G>A (p.Arg324His) rs113684274
NM_016434.3(RTEL1):c.973C>T (p.Leu325=) rs142739953
NM_016434.3(RTEL1):c.978G>A (p.Glu326=) rs41310197
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+10A>T rs376220034
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+3dup
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.270A>G (p.Val90=) rs148179279
NM_017838.3(NHP2):c.289A>G (p.Met97Val)
NM_017838.3(NHP2):c.290T>C (p.Met97Thr)
NM_017838.3(NHP2):c.302G>A (p.Arg101Gln) rs145890370
NM_017838.3(NHP2):c.67A>G (p.Thr23Ala)
NM_017838.3(NHP2):c.72C>T (p.Tyr24=) rs202221169
NM_018062.3(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294
NM_018062.3(FANCL):c.1021-6T>C rs377052216
NM_018062.3(FANCL):c.1049_1050AG[1] (p.Ser351fs) rs750871999
NM_018062.3(FANCL):c.1052G>A (p.Ser351Asn)
NM_018062.3(FANCL):c.1067T>G (p.Phe356Cys) rs773869051
NM_018062.3(FANCL):c.1077T>C (p.Cys359=) rs11539575
NM_018062.3(FANCL):c.1088G>A (p.Ser363Asn)
NM_018062.3(FANCL):c.108C>G (p.Phe36Leu) rs149726602
NM_018062.3(FANCL):c.1092+1_1092+5del rs1558727300
NM_018062.3(FANCL):c.1096_1099dup (p.Thr367fs) rs759217526
NM_018062.3(FANCL):c.1115G>C (p.Gly372Ala) rs149803148
NM_018062.3(FANCL):c.112C>T (p.Leu38Phe) rs55849827
NM_018062.3(FANCL):c.134A>T (p.Asp45Val)
NM_018062.3(FANCL):c.142C>G (p.Leu48Val) rs148516173
NM_018062.3(FANCL):c.155+7T>C rs200849840
NM_018062.3(FANCL):c.156-8A>C rs878855045
NM_018062.3(FANCL):c.182C>G (p.Thr61Arg) rs1315405264
NM_018062.3(FANCL):c.203G>C (p.Arg68Pro) rs143819820
NM_018062.3(FANCL):c.211C>T (p.Gln71Ter) rs753105795
NM_018062.3(FANCL):c.216+1G>T rs1205006300
NM_018062.3(FANCL):c.238C>G (p.Leu80Val) rs563513081
NM_018062.3(FANCL):c.246C>G (p.Ser82Arg)
NM_018062.3(FANCL):c.273+1G>A
NM_018062.3(FANCL):c.273+7A>C rs745366278
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.387G>A (p.Ala129=) rs141400460
NM_018062.3(FANCL):c.394T>C (p.Cys132Arg)
NM_018062.3(FANCL):c.402T>C (p.Ser134=) rs145284589
NM_018062.3(FANCL):c.40dup (p.Leu14fs) rs761039364
NM_018062.3(FANCL):c.426_438del (p.Asp142fs) rs878855046
NM_018062.3(FANCL):c.4G>T (p.Ala2Ser) rs144057264
NM_018062.3(FANCL):c.51C>G (p.Pro17=) rs772700022
NM_018062.3(FANCL):c.534A>G (p.Thr178=) rs151181785
NM_018062.3(FANCL):c.622G>A (p.Asp208Asn) rs199564543
NM_018062.3(FANCL):c.670A>G (p.Thr224Ala) rs149731356
NM_018062.3(FANCL):c.692-2A>G rs1558737575
NM_018062.3(FANCL):c.692G>A (p.Gly231Asp) rs1558737546
NM_018062.3(FANCL):c.693T>G (p.Gly231=) rs864622189
NM_018062.3(FANCL):c.705C>T (p.Ser235=) rs1553435677
NM_018062.3(FANCL):c.706A>G (p.Ile236Val) rs762904548
NM_018062.3(FANCL):c.755T>G (p.Phe252Cys) rs139801716
NM_018062.3(FANCL):c.755_758TCTT[1] (p.Phe253fs) rs1553435610
NM_018062.3(FANCL):c.817T>C (p.Leu273=) rs61753272
NM_018062.3(FANCL):c.81A>C (p.Gly27=) rs1553459821
NM_018062.3(FANCL):c.846A>G (p.Gln282=) rs535158133
NM_018062.3(FANCL):c.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_904-7del rs757041554
NM_018062.3(FANCL):c.918T>C (p.Asp306=) rs1060504376
NM_018062.3(FANCL):c.949G>A (p.Gly317Ser) rs1060501896
NM_018062.3(FANCL):c.96+10C>T rs184741617
NM_018062.3(FANCL):c.963T>A (p.Asp321Glu) rs140088149
NM_018062.3(FANCL):c.967G>T (p.Val323Leu) rs763057392
NM_018368.4(LMBRD1):c.1023C>T (p.Phe341=) rs765215874
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser)
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met) rs771561971
NM_018368.4(LMBRD1):c.291A>G (p.Val97=) rs752864942
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg)
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=) rs138374055
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.801C>T (p.Arg267=) rs34327883
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His)
NM_018368.4(LMBRD1):c.981-10dup rs202207965
NM_018648.3(NOP10):c.122_135delinsCACC (p.Tyr41fs)
NM_018648.3(NOP10):c.179C>T (p.Pro60Leu) rs765367178
NM_018648.3(NOP10):c.27G>T (p.Glu9Asp)
NM_018648.3(NOP10):c.34G>C (p.Asp12His) rs146261631
NM_018648.3(NOP10):c.55-10C>A rs200017156
NM_018648.3(NOP10):c.55-9C>T rs72720799
NM_020937.4(FANCM):c.1009G>C (p.Ala337Pro) rs1210888568
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu) rs151071546
NM_020937.4(FANCM):c.1041G>A (p.Pro347=) rs140998495
NM_020937.4(FANCM):c.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.1396+10A>G rs371211104
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.171G>C (p.Leu57Phe) rs142007602
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.1964A>G (p.Asn655Ser) rs61753893
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.2190A>G (p.Gln730=) rs117392855
NM_020937.4(FANCM):c.219C>A (p.Gly73=) rs111252426
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.2267G>A (p.Arg756His) rs142763060
NM_020937.4(FANCM):c.2268C>A (p.Arg756=) rs146061601
NM_020937.4(FANCM):c.2284A>G (p.Met762Val)
NM_020937.4(FANCM):c.2297A>G (p.Glu766Gly)
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala) rs61746895
NM_020937.4(FANCM):c.2302A>G (p.Met768Val)
NM_020937.4(FANCM):c.231C>T (p.Thr77=) rs377164876
NM_020937.4(FANCM):c.2330A>G (p.Tyr777Cys) rs200173413
NM_020937.4(FANCM):c.2339A>C (p.Glu780Ala) rs149856496
NM_020937.4(FANCM):c.2389C>G (p.Pro797Ala) rs144771929
NM_020937.4(FANCM):c.2445G>A (p.Ser815=) rs61745871
NM_020937.4(FANCM):c.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.2628T>C (p.Asp876=) rs374313777
NM_020937.4(FANCM):c.2653A>G (p.Thr885Ala)
NM_020937.4(FANCM):c.2670T>C (p.Phe890=) rs8017226
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.2703A>G (p.Ser901=) rs781066677
NM_020937.4(FANCM):c.2723C>T (p.Ala908Val)
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val) rs148871932
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.2889C>T (p.Phe963=) rs544323144
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.3040G>T (p.Gly1014Cys) rs77532752
NM_020937.4(FANCM):c.3083A>T (p.His1028Leu)
NM_020937.4(FANCM):c.30G>A (p.Gln10=) rs145745979
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.3296G>A (p.Arg1099His) rs139382267
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.3547T>C (p.Leu1183=) rs142667852
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.3758A>G (p.Asn1253Ser) rs45604036
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.3863A>G (p.Asn1288Ser) rs116519044
NM_020937.4(FANCM):c.3868A>G (p.Thr1290Ala)
NM_020937.4(FANCM):c.3887T>C (p.Ile1296Thr)
NM_020937.4(FANCM):c.3920A>G (p.Tyr1307Cys) rs61730251
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.4222+7T>G rs148675704
NM_020937.4(FANCM):c.424C>T (p.Pro142Ser)
NM_020937.4(FANCM):c.4260C>T (p.Asp1420=) rs113819179
NM_020937.4(FANCM):c.4311T>C (p.Ser1437=) rs1017827085
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.4563A>C (p.Glu1521Asp) rs113986680
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.4709G>A (p.Arg1570His) rs201803784
NM_020937.4(FANCM):c.4727A>G (p.Asn1576Ser)
NM_020937.4(FANCM):c.4784C>A (p.Pro1595His) rs750818919
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943
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.491A>C (p.His164Pro) rs144278051
NM_020937.4(FANCM):c.4931G>A (p.Arg1644Gln) rs138151018
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.5022T>C (p.Ser1674=) rs1295913364
NM_020937.4(FANCM):c.5026G>A (p.Glu1676Lys) rs769919966
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.5101C>T (p.Gln1701Ter) rs147021911
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.5142G>A (p.Ala1714=) rs111894696
NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu) rs750384175
NM_020937.4(FANCM):c.5190G>A (p.Gln1730=) rs7142192
NM_020937.4(FANCM):c.5199G>A (p.Gln1733=) rs1555367253
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) rs143662421
NM_020937.4(FANCM):c.523T>C (p.Ser175Pro) rs779858649
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) rs77374493
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.5577T>C (p.Asn1859=) rs113831595
NM_020937.4(FANCM):c.5579G>A (p.Arg1860His)
NM_020937.4(FANCM):c.5603A>G (p.Gln1868Arg)
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser) rs45557033
NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr) rs79343837
NM_020937.4(FANCM):c.5683T>C (p.Cys1895Arg)
NM_020937.4(FANCM):c.5685T>C (p.Cys1895=) rs746870942
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.5808C>T (p.Ser1936=) rs142333130
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.6084T>C (p.Tyr2028=) rs756119280
NM_020937.4(FANCM):c.6140_*8del (p.Asp2047fs)
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=) rs8018014
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534
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.693A>G (p.Glu231=) rs146597866
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.926A>C (p.Glu309Ala) rs143006771
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_020937.4(FANCM):c.990A>G (p.Thr330=) rs138677111
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.1028G>A (p.Arg343Gln) rs45467798
NM_021922.2(FANCE):c.1053T>G (p.Leu351=) rs755165473
NM_021922.2(FANCE):c.1057C>G (p.Pro353Ala) rs878855070
NM_021922.2(FANCE):c.1071C>T (p.Leu357=) rs3823434
NM_021922.2(FANCE):c.1111C>T (p.Arg371Trp)
NM_021922.2(FANCE):c.1116C>T (p.Ile372=) rs143234424
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.1310T>C (p.Met437Thr) rs142903218
NM_021922.2(FANCE):c.1316+10C>T rs200479051
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.1333C>T (p.Pro445Ser) rs141551053
NM_021922.2(FANCE):c.1336T>C (p.Trp446Arg) rs1554122137
NM_021922.2(FANCE):c.1383+10C>T rs1060504374
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.1464C>T (p.Ala488=) rs779775366
NM_021922.2(FANCE):c.1466A>T (p.Tyr489Phe)
NM_021922.2(FANCE):c.1509+3G>A
NM_021922.2(FANCE):c.1509C>T (p.Asn503=) rs147166240
NM_021922.2(FANCE):c.1510-9T>C rs369210475
NM_021922.2(FANCE):c.1520C>T (p.Thr507Ile) rs1413425638
NM_021922.2(FANCE):c.1572G>A (p.Arg524=) rs115195341
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.210G>A (p.Glu70=) rs1008512809
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.246G>A (p.Glu82=) rs769779495
NM_021922.2(FANCE):c.248+7C>A rs186563531
NM_021922.2(FANCE):c.253C>T (p.Pro85Ser) rs145068586
NM_021922.2(FANCE):c.266G>T (p.Arg89Leu) rs45600543
NM_021922.2(FANCE):c.274C>T (p.Arg92Trp) rs375195621
NM_021922.2(FANCE):c.284A>G (p.Gln95Arg) rs149097636
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.355C>T (p.Gln119Ter) rs121434505
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.561A>G (p.Glu187=) rs1554121329
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.611C>T (p.Ser204Leu) rs7761870
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.733_735GGA[1] (p.Gly246del) rs45451605
NM_021922.2(FANCE):c.746C>T (p.Ser249Phe)
NM_021922.2(FANCE):c.798G>A (p.Ser266=) rs746542545
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.929dup (p.Val311fs)
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_021922.2(FANCE):c.999C>T (p.Leu333=) rs776082827
NM_022725.3(FANCF):c.1035C>T (p.Ser345=) rs1554963603
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.199A>C (p.Arg67=) rs146647469
NM_022725.3(FANCF):c.211G>A (p.Gly71Ser)
NM_022725.3(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.3(FANCF):c.241G>T (p.Ala81Ser) rs145057187
NM_022725.3(FANCF):c.246C>T (p.Asn82=) rs139724351
NM_022725.3(FANCF):c.258C>A (p.Leu86=) rs146352365