ClinVar Miner

List of variants studied for anemia (disease)

Included ClinVar conditions (264):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10809
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HGVS dbSNP
46;XX;t(4;14)(p15.2;q13)dn
ABCD4, 1456G-T
AMN, IVS3, A-G, -2
APOB, 1-BP DEL, 4432T
APOB, EX21DEL
ATRX, IVSAS, T-A, -10
CD46, 2-BP DEL, 843AC
CD46, 6-BP DEL
CD59, 1-BP DEL, CODON 16
DKC1, -141C-G, PROMOTER
FANCA, IVS7DS, G-A, +5
FANCB, 1-BP DEL, 1650T
FANCB, 1-BP INS, 1838T
FANCB, 1-BP INS, 811T
FANCB, 3314-BP DEL
FANCC, 250-BP DEL
FANCD2, 376A-G
FANCD2, EX17 DEL
FANCG, IVS13, G-C, -1
FANCI, 2T-C
FANCI, IVS31AS, A-G, -88
FANCL, 3-BP DEL, 1007TAT
FANCL, 4-BP DUP, 1095AATT
GIF, 4-BP DEL, 183GAAT
GIF, IVS1DS, G-A, +1
GRCh37/hg19 16p13.3(chr16:216075-231021)
GRCh37/hg19 16p13.3(chr16:221962-228406)
GRCh37/hg19 22q11.21(chr22:18894835-21505417)
GRCh37/hg19 Xq28(chrX:153138672-153665655)
GSS, 1-BP DEL, NT3/4G
HBA1, 1-BP DEL, 354C
HBB, 1-BP DEL
HBB, 106-KB DEL
HBD, HBD87/HBB116 FUSION
HBG1, C-T, -158
HBG2, HIS63LEU
HBG2, T-G, -567
HK1, 96-BP DEL
HPRT CHERMSIDE
HPRT CHICAGO
HPRT CONNERSVILLE
HPRT COORPAROO
HPRT MICHIGAN
HPRT, 1-BP DEL, TTA-TA
HPRT, 1-BP DEL, TTG-TG
HPRT, 13-BP DEL, 5-PRIME UTR
HPRT, 2-BP DEL, GT
HPRT, 40-BP DEL
HPRT, DEL
HPRT, EX2-3DUP, IVS1DEL
HPRT, EX2DEL
HPRT, EX4-9DEL
HPRT, EX9DEL
HPRT, INV/DEL, EX6-9
HPRT,1-BP INS, 207G
LCAT, 1-BP INS, EX1
LMBRD1, 1-BP DEL, 1056G
MTP, EXON 10 DEL
MTP, IVS, G-A, +5
MTR, IVS3AS, A-G, -166
MTR, IVS6AS, G-A, LYS203
MTRR, 140-BP INS, NT903
MTRR, 2-BP INS, 1623TA
MTRR, 3-BP DEL, 1726TTG
MTRR, 4-BP DEL, NT1675
NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del
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_000003.12:g.10073363G>A
NC_000005.10:g.7875314C>T
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_000006.12:g.135105435A>G rs4895441
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_000012.10:g.54711095_54731551del
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_000014.8:g.96163103_96857129dup
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.(?_201208)_(232141_?)del
NC_000016.9:g.(?_219779)_(232141_?)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_000016.9:g.223300_227103del
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_000020.11:g.18527581del
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
NC_000023.11:g.(134493178_134493182)_(134501172_134501176)del
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del
NC_000023.11:g.110250890_110665082del
NC_000023.11:g.14843408_14873063del
NC_000023.11:g.14864560_14869043dup
NC_012920.1:m.8350_13450del
NC_012920.1:m.8480_13440del
NC_012920.1:m.8969G>A rs794726857
NG_000006.1:g.32867_38062del5196
NG_011706.1:g.10587_63081del
NG_011706.1:g.13291_71928del
NM_000018.4(ACADVL):c.325G>A (p.Val109Met) rs754207297
NM_000032.4(ALAS2):c.-258C>G rs140772352
NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser) rs137852300
NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr) rs137852307
NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys) rs137852305
NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys) rs137852311
NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn) rs137852299
NM_000032.5(ALAS2):c.1570C>G (p.His524Asp) rs137852309
NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly) rs137852306
NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn) rs137852308
NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr) rs137852308
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu) rs137852301
NM_000032.5(ALAS2):c.508C>A (p.Arg170Ser) rs1557248142
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) rs137852304
NM_000032.5(ALAS2):c.569A>T (p.Asp190Val) rs28935484
NM_000032.5(ALAS2):c.595T>C (p.Tyr199His) rs137852310
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser) rs137852302
NM_000032.5(ALAS2):c.895A>C (p.Lys299Gln) rs137852303
NM_000059.3(BRCA2):c.*105A>C rs15869
NM_000059.3(BRCA2):c.*172G>A rs574944914
NM_000059.3(BRCA2):c.*248T>C rs542356535
NM_000059.3(BRCA2):c.*292A>C rs886050112
NM_000059.3(BRCA2):c.*295C>G rs11571834
NM_000059.3(BRCA2):c.*345A>G rs886050113
NM_000059.3(BRCA2):c.*360dup rs886050114
NM_000059.3(BRCA2):c.*369A>G rs7334543
NM_000059.3(BRCA2):c.*382A>G rs559790882
NM_000059.3(BRCA2):c.*390A>G rs56003538
NM_000059.3(BRCA2):c.*397C>A rs11571835
NM_000059.3(BRCA2):c.*399T>C rs886050115
NM_000059.3(BRCA2):c.*416G>T rs886050116
NM_000059.3(BRCA2):c.*50A>G rs761312704
NM_000059.3(BRCA2):c.*532A>G rs11571836
NM_000059.3(BRCA2):c.*545T>C rs536333595
NM_000059.3(BRCA2):c.*675C>A rs886050117
NM_000059.3(BRCA2):c.*696G>A rs886050118
NM_000059.3(BRCA2):c.*753C>T rs190094748
NM_000059.3(BRCA2):c.*839T>C rs76358429
NM_000059.3(BRCA2):c.*839del rs75353978
NM_000059.3(BRCA2):c.*841A>G rs186619625
NM_000059.3(BRCA2):c.*842A>G rs192347116
NM_000059.3(BRCA2):c.*854T>C rs572993583
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-175C>T rs55880202
NM_000059.3(BRCA2):c.-210A>G rs886050111
NM_000059.3(BRCA2):c.-26G>A rs1799943
NM_000059.3(BRCA2):c.-52A>G rs206118
NM_000059.3(BRCA2):c.-59_-57del rs545321666
NM_000059.3(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.3(BRCA2):c.1282C>A (p.Leu428Ile) rs547590567
NM_000059.3(BRCA2):c.1365A>G (p.Ser455=) rs1801439
NM_000059.3(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.3(BRCA2):c.1433C>A (p.Thr478Lys) rs431825282
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.3(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.198A>G (p.Gln66=) rs28897700
NM_000059.3(BRCA2):c.2122T>A (p.Ser708Thr) rs80358488
NM_000059.3(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296
NM_000059.3(BRCA2):c.2229T>C (p.His743=) rs1801499
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.2405A>G (p.Asn802Ser) rs876661089
NM_000059.3(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.3(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.3(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943
NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2908G>A (p.Asp970Asn) rs397507295
NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545
NM_000059.3(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.3(BRCA2):c.316+13A>G rs773097109
NM_000059.3(BRCA2):c.323A>G (p.Asn108Ser) rs80358568
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3396A>G (p.Lys1132=) rs1801406
NM_000059.3(BRCA2):c.3415A>C (p.Lys1139Gln) rs747903103
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3495T>C (p.His1165=) rs776655838
NM_000059.3(BRCA2):c.3497T>A (p.Val1166Asp) rs762886975
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.3807T>C (p.Val1269=) rs543304
NM_000059.3(BRCA2):c.3808G>A (p.Val1270Ile) rs876658938
NM_000059.3(BRCA2):c.3835A>G (p.Asn1279Asp) rs80358626
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.3(BRCA2):c.4478A>G (p.Glu1493Gly) rs80358679
NM_000059.3(BRCA2):c.4535G>A (p.Arg1512His) rs80358685
NM_000059.3(BRCA2):c.4563A>G (p.Leu1521=) rs206075
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.3(BRCA2):c.4648G>T (p.Glu1550Ter) rs80358695
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.4825A>G (p.Thr1609Ala) rs876659201
NM_000059.3(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5225A>T (p.Asn1742Ile) rs756463217
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
NM_000059.3(BRCA2):c.5319G>A (p.Glu1773=) rs376257217
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5453C>A (p.Ser1818Ter) rs1566232471
NM_000059.3(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.3(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.3(BRCA2):c.561G>A (p.Glu187=) rs754678843
NM_000059.3(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.3(BRCA2):c.5791C>T (p.Gln1931Ter) rs80358807
NM_000059.3(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.5962G>A (p.Val1988Ile) rs28897739
NM_000059.3(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833
NM_000059.3(BRCA2):c.5986G>T (p.Ala1996Ser) rs80358833
NM_000059.3(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760
NM_000059.3(BRCA2):c.6148G>A (p.Val2050Ile) rs80358854
NM_000059.3(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
NM_000059.3(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.3(BRCA2):c.631+1G>A rs81002897
NM_000059.3(BRCA2):c.631+2T>G rs81002899
NM_000059.3(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.3(BRCA2):c.6626T>C (p.Ile2209Thr) rs431825344
NM_000059.3(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.3(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.6818G>A (p.Arg2273Lys) rs587782174
NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912
NM_000059.3(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.3(BRCA2):c.6921A>G (p.Ser2307=) rs181183366
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.3(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7435+10G>A rs81002793
NM_000059.3(BRCA2):c.7447A>G (p.Ser2483Gly) rs80358966
NM_000059.3(BRCA2):c.7464_7465insTA (p.Asp2489Ter) rs886038169
NM_000059.3(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972
NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.7579del (p.Ala2526_Val2527insTer) rs1555286294
NM_000059.3(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354
NM_000059.3(BRCA2):c.7693G>A (p.Glu2565Lys) rs764761862
NM_000059.3(BRCA2):c.7781A>G (p.Lys2594Arg) rs876660874
NM_000059.3(BRCA2):c.7806-14T>C rs9534262
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.7954G>A (p.Val2652Met) rs1466452770
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.3(BRCA2):c.7992T>G (p.Ile2664Met) rs80359800
NM_000059.3(BRCA2):c.8007A>T (p.Arg2669Ser) rs143999963
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8219T>A (p.Leu2740Ter) rs80359070
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8530G>A (p.Glu2844Lys) rs755783122
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.3(BRCA2):c.8732C>A (p.Ala2911Glu) rs80359130
NM_000059.3(BRCA2):c.8817G>C (p.Lys2939Asn) rs397507414
NM_000059.3(BRCA2):c.8825C>T (p.Ala2942Val) rs373227180
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.909T>G (p.Ser303=) rs757430441
NM_000059.3(BRCA2):c.9106C>G (p.Gln3036Glu) rs202155613
NM_000059.3(BRCA2):c.9117G>A (p.Pro3039=) rs28897756
NM_000059.3(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.3(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.3(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200
NM_000059.3(BRCA2):c.92G>A (p.Trp31Ter) rs397508045
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
NM_000059.3(BRCA2):c.9530A>G (p.Glu3177Gly) rs876658365
NM_000059.3(BRCA2):c.9538C>T (p.Leu3180Phe) rs200598289
NM_000059.3(BRCA2):c.963A>G (p.Gln321=) rs276174927
NM_000059.3(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773
NM_000059.3(BRCA2):c.9693del (p.Leu3232fs) rs1566260827
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000063.6(C2):c.*304A>G rs72842444
NM_000063.6(C2):c.1360+1G>A rs140225293
NM_000063.6(C2):c.1414G>A (p.Ala472Thr) rs142243595
NM_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012
NM_000063.6(C2):c.1529G>A (p.Arg510His) rs45476300
NM_000063.6(C2):c.1778G>A (p.Arg593Gln) rs150878060
NM_000063.6(C2):c.1835G>A (p.Ser612Asn) rs573509224
NM_000063.6(C2):c.1902+6G>C rs9332730
NM_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133
NM_000063.6(C2):c.2046A>G (p.Ala682=) rs45507391
NM_000063.6(C2):c.2080-8T>C rs201806170
NM_000064.4(C3):c.-28C>G rs339394
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000064.4(C3):c.1042A>G (p.Ile348Val) rs141737564
NM_000064.4(C3):c.1119+14C>T rs374368486
NM_000064.4(C3):c.1119+15G>A rs114252882
NM_000064.4(C3):c.1164C>T (p.Pro388=) rs769368306
NM_000064.4(C3):c.1269+14C>A rs886054655
NM_000064.4(C3):c.1303G>A (p.Glu435Lys) rs774826179
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422
NM_000064.4(C3):c.1554C>A (p.Pro518=) rs2230203
NM_000064.4(C3):c.1623C>T (p.Ser541=) rs202078483
NM_000064.4(C3):c.1653G>T (p.Val551=) rs344534
NM_000064.4(C3):c.1692G>A (p.Val564=) rs2230204
NM_000064.4(C3):c.1758G>A (p.Glu586=) rs764201055
NM_000064.4(C3):c.1767C>T (p.His589=) rs775843240
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) rs121909583
NM_000064.4(C3):c.1819A>G (p.Lys607Glu) rs140637006
NM_000064.4(C3):c.1836G>A (p.Thr612=) rs2230205
NM_000064.4(C3):c.1855G>A (p.Val619Met) rs146613648
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231
NM_000064.4(C3):c.1898A>G (p.Lys633Arg) rs140655115
NM_000064.4(C3):c.1921G>A (p.Asp641Asn) rs1348311492
NM_000064.4(C3):c.2048-14_2048-13del rs140718871
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257
NM_000064.4(C3):c.2184C>T (p.Cys728=) rs200258941
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) rs117793540
NM_000064.4(C3):c.2245+15G>A rs11569434
NM_000064.4(C3):c.2246-8C>T rs406514
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657
NM_000064.4(C3):c.2403G>A (p.Thr801=) rs886054654
NM_000064.4(C3):c.2421G>C (p.Val807=) rs428453
NM_000064.4(C3):c.2430G>A (p.Ser810=) rs2230207
NM_000064.4(C3):c.2450T>A (p.Val817Glu) rs886054653
NM_000064.4(C3):c.2562C>G (p.Tyr854Ter) rs121909586
NM_000064.4(C3):c.2700C>G (p.Ile900Met) rs763155610
NM_000064.4(C3):c.2715C>T (p.Thr905=) rs2230208
NM_000064.4(C3):c.2745T>C (p.Ala915=) rs423490
NM_000064.4(C3):c.2799G>A (p.Pro933=) rs149209011
NM_000064.4(C3):c.2857G>A (p.Gly953Ser) rs779124363
NM_000064.4(C3):c.2863+7C>T rs2287845
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609
NM_000064.4(C3):c.2907C>T (p.Asp969=) rs144672500
NM_000064.4(C3):c.2951-5_2951-3del
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434
NM_000064.4(C3):c.3281C>T (p.Ala1094Val) rs121909584
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro) rs750654763
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) rs121909585
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534
NM_000064.4(C3):c.3687C>T (p.Asn1229=) rs201108539
NM_000064.4(C3):c.3753C>A (p.Pro1251=) rs2230209
NM_000064.4(C3):c.3908G>A (p.Arg1303His) rs775015499
NM_000064.4(C3):c.3993A>G (p.Thr1331=) rs202210310
NM_000064.4(C3):c.4030-4C>T rs372612816
NM_000064.4(C3):c.4095C>G (p.Val1365=) rs527830114
NM_000064.4(C3):c.4120+8G>T rs886054652
NM_000064.4(C3):c.4311C>T (p.Ala1437=) rs7951
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala) rs147116781
NM_000064.4(C3):c.443G>A (p.Arg148Gln) rs886054657
NM_000064.4(C3):c.4457-4G>A rs2277984
NM_000064.4(C3):c.4457-5C>T rs344554
NM_000064.4(C3):c.4535G>A (p.Arg1512His) rs142868256
NM_000064.4(C3):c.4631-8C>T rs11569565
NM_000064.4(C3):c.4631-9C>T rs116302413
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser) rs746985605
NM_000064.4(C3):c.4767G>A (p.Lys1589=) rs144589541
NM_000064.4(C3):c.4803C>T (p.His1601=) rs762332809
NM_000064.4(C3):c.4827C>T (p.Ser1609=) rs150537373
NM_000064.4(C3):c.4850+12C>A rs748416799
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210
NM_000064.4(C3):c.4896C>T (p.Pro1632=) rs17030
NM_000064.4(C3):c.4941G>A (p.Gln1647=) rs780251209
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726
NM_000064.4(C3):c.600-14C>T rs3745558
NM_000064.4(C3):c.640C>T (p.Pro214Ser) rs794729228
NM_000064.4(C3):c.681C>T (p.Tyr227=) rs756694755
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571
NM_000064.4(C3):c.769G>A (p.Ala257Thr) rs200918899
NM_000064.4(C3):c.774-4G>A rs368095422
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200
NM_000064.4(C3):c.819C>T (p.Phe273=) rs886054656
NM_000064.4(C3):c.912G>A (p.Arg304=) rs2230201
NM_000064.4(C3):c.941C>T (p.Pro314Leu) rs1047286
NM_000096.3(CP):c.-165C>T rs536533840
NM_000096.3(CP):c.-183T>C rs185578646
NM_000096.3(CP):c.-199C>G rs772691705
NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs) rs386134138
NM_000096.3(CP):c.606dupA (p.Asp203Argfs) rs386134143
NM_000096.4(CP):c.*1081T>A rs188137938
NM_000096.4(CP):c.*1157C>T rs11537809
NM_000096.4(CP):c.*137C>T rs34228141
NM_000096.4(CP):c.*343A>G rs886058085
NM_000096.4(CP):c.*373C>G rs370247691
NM_000096.4(CP):c.*509A>C rs13098532
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*768T>C rs35805816
NM_000096.4(CP):c.*769G>A rs1053669
NM_000096.4(CP):c.*828dup rs35907111
NM_000096.4(CP):c.*879A>C rs144029944
NM_000096.4(CP):c.*912C>G rs149920453
NM_000096.4(CP):c.1012T>A (p.Cys338Ser) rs769313989
NM_000096.4(CP):c.1037-3C>A
NM_000096.4(CP):c.1049C>A (p.Ala350Asp) rs386134127
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984
NM_000096.4(CP):c.1100G>T (p.Arg367Leu)
NM_000096.4(CP):c.1104G>C (p.Gly368=) rs142503847
NM_000096.4(CP):c.1123T>C (p.Tyr375His) rs386134128
NM_000096.4(CP):c.1191C>G (p.Asn397Lys) rs146229133
NM_000096.4(CP):c.1208+1G>A rs1553762556
NM_000096.4(CP):c.1209-15T>A rs35465173
NM_000096.4(CP):c.1209-2A>G rs386134137
NM_000096.4(CP):c.1217C>A (p.Ala406Glu) rs147034302
NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer) rs386134144
NM_000096.4(CP):c.125A>G (p.Lys42Arg) rs886058090
NM_000096.4(CP):c.1265A>G (p.Lys422Arg)
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) rs386134145
NM_000096.4(CP):c.1293C>T (p.Ala431=) rs758930665
NM_000096.4(CP):c.1309A>G (p.Lys437Glu) rs764238637
NM_000096.4(CP):c.1313A>G (p.Glu438Gly) rs1553761979
NM_000096.4(CP):c.1348+9T>C rs35272481
NM_000096.4(CP):c.1349-13T>C rs17847017
NM_000096.4(CP):c.1380C>T (p.Thr460=) rs149790356
NM_000096.4(CP):c.1414C>A (p.Pro472Thr)
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000096.4(CP):c.146+1G>A rs386134134
NM_000096.4(CP):c.1493A>G (p.Gln498Arg) rs17847018
NM_000096.4(CP):c.1503_1504TG[3] (p.Pro503fs) rs1553761391
NM_000096.4(CP):c.151C>T (p.His51Tyr) rs150681942
NM_000096.4(CP):c.1575A>G (p.Val525=) rs760634973
NM_000096.4(CP):c.1613del (p.Met538fs)
NM_000096.4(CP):c.1632= (p.Glu544=) rs701753
NM_000096.4(CP):c.164A>G (p.Tyr55Cys) rs756029950
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000096.4(CP):c.1679G>T (p.Cys560Phe) rs1064797073
NM_000096.4(CP):c.1680C>T (p.Cys560=) rs1553761342
NM_000096.4(CP):c.1713+3A>G rs372361874
NM_000096.4(CP):c.1774C>G (p.Leu592Val) rs200226362
NM_000096.4(CP):c.1774C>T (p.Leu592Phe) rs200226362
NM_000096.4(CP):c.1864+1G>C rs1559942361
NM_000096.4(CP):c.1865-1G>A rs386134139
NM_000096.4(CP):c.1865-291_2077+352del rs1553759338
NM_000096.4(CP):c.1874G>A (p.Gly625Glu) rs386134129
NM_000096.4(CP):c.1900C>A (p.Leu634Ile)
NM_000096.4(CP):c.1918del (p.Asp640fs) rs386134146
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.2068del (p.Asp690fs) rs386134148
NM_000096.4(CP):c.2078-74_2241del rs1553759167
NM_000096.4(CP):c.2131C>A (p.Gln711Lys) rs386134130
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949
NM_000096.4(CP):c.2180T>C (p.Phe727Ser) rs886058087
NM_000096.4(CP):c.2185del (p.Leu729fs) rs587777922
NM_000096.4(CP):c.2253G>A (p.Trp751Ter) rs1559940237
NM_000096.4(CP):c.2266C>A (p.His756Asn) rs773420516
NM_000096.4(CP):c.2286-12T>G rs183671127
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.2286-15del rs143522213
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433
NM_000096.4(CP):c.2310G>A (p.Lys770=) rs553883583
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500
NM_000096.4(CP):c.2389del (p.Glu797fs) rs386134149
NM_000096.4(CP):c.2446G>A (p.Val816Ile)
NM_000096.4(CP):c.2482del (p.Ala828fs) rs386134150
NM_000096.4(CP):c.2498C>G (p.Ser833Ter)
NM_000096.4(CP):c.249T>C (p.Thr83=) rs138512757
NM_000096.4(CP):c.2511dup (p.Gly838fs) rs386134151
NM_000096.4(CP):c.2554+14C>G rs200965170
NM_000096.4(CP):c.2554+1G>T rs386134140
NM_000096.4(CP):c.2557G>A (p.Glu853Lys) rs886058086
NM_000096.4(CP):c.2565C>T (p.Leu855=) rs781672409
NM_000096.4(CP):c.2603del (p.Gly868fs) rs386134152
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) rs121909579
NM_000096.4(CP):c.2662-12T>C rs16861582
NM_000096.4(CP):c.2662-14T>C rs189155564
NM_000096.4(CP):c.2675G>A (p.Gly892Glu) rs386134131
NM_000096.4(CP):c.2681T>C (p.Ile894Thr)
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000096.4(CP):c.2689_2690del (p.Leu897fs) rs386134153
NM_000096.4(CP):c.2697T>C (p.Val899=) rs17847022
NM_000096.4(CP):c.2701C>T (p.Arg901Ter) rs386134156
NM_000096.4(CP):c.2702dup (p.Arg902fs) rs1559935542
NM_000096.4(CP):c.2756T>C (p.Leu919Pro) rs1135401784
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997
NM_000096.4(CP):c.2879-1G>A rs386134141
NM_000096.4(CP):c.2879-1G>T rs386134141
NM_000096.4(CP):c.2917dup (p.Thr973fs) rs386134154
NM_000096.4(CP):c.2953A>G (p.Met985Val) rs386134132
NM_000096.4(CP):c.2962G>A (p.Gly988Ser) rs386134133
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.4(CP):c.2991T>G (p.His997Gln) rs34394958
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) rs187293972
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.3182-4A>G rs34272112
NM_000096.4(CP):c.347C>A (p.Pro116His) rs73866999
NM_000096.4(CP):c.389A>G (p.His130Arg)
NM_000096.4(CP):c.395-1G>A rs386134135
NM_000096.4(CP):c.407C>T (p.Pro136Leu)
NM_000096.4(CP):c.493C>G (p.Gln165Glu) rs386134122
NM_000096.4(CP):c.508G>A (p.Gly170Arg) rs886058089
NM_000096.4(CP):c.548T>C (p.Ile183Thr) rs386134123
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693
NM_000096.4(CP):c.587C>G (p.Pro196Arg) rs386134124
NM_000096.4(CP):c.607+1G>A rs386134136
NM_000096.4(CP):c.643C>T (p.Arg215Ter) rs386134155
NM_000096.4(CP):c.650T>C (p.Phe217Ser) rs386134125
NM_000096.4(CP):c.669G>C (p.Val223=) rs35438054
NM_000096.4(CP):c.701A>G (p.Asp234Gly) rs769311718
NM_000096.4(CP):c.782-14C>T rs34067682
NM_000096.4(CP):c.788A>G (p.Asn263Ser) rs150303869
NM_000096.4(CP):c.82A>T (p.Ile28Phe) rs386134121
NM_000096.4(CP):c.848G>C (p.Trp283Ser) rs386134126
NM_000096.4(CP):c.850T>C (p.Tyr284His) rs886058088
NM_000096.4(CP):c.921G>A (p.Lys307=) rs543777038
NM_000096.4(CP):c.938C>T (p.Thr313Ile) rs144401501
NM_000096.4(CP):c.93G>A (p.Thr31=) rs201521886
NM_000096.4(CP):c.944A>G (p.Asn315Ser) rs370682704
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375
NM_000119.2(EPB42):c.1747G>T (p.Glu583Ter) rs115998465
NM_000119.2(EPB42):c.265delG (p.Val89Trpfs) rs266257354
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487
NM_000119.2(EPB42):c.922+1G>A rs266257355
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) rs121917734
NM_000119.3(EPB42):c.100+1G>A rs150530456
NM_000119.3(EPB42):c.1699G>A (p.Ala567Thr) rs45495503
NM_000119.3(EPB42):c.1772del (p.Phe591fs) rs775832353
NM_000119.3(EPB42):c.286+6T>A rs515726214
NM_000119.3(EPB42):c.523G>T (p.Asp175Tyr) rs143682977
NM_000119.3(EPB42):c.920C>T (p.Thr307Ile) rs515726211
NM_000119.3(EPB42):c.949C>T (p.Arg317Cys) rs515726212
NM_000119.3(EPB42):c.950del (p.Arg317fs) rs515726213
NM_000135.2(FANCA):c.1007_3066del
NM_000135.2(FANCA):c.1_2151+1del
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.2(FANCA):c.894_1006del113 (p.Trp298Cysfs)
NM_000135.2:c.1471_1626del
NM_000135.2:c.1627_1900del
NM_000135.2:c.523_2601del
NM_000135.2:c.894_2641del
NM_000135.3(FANCA):c.(?_-1)_522+?del
NM_000135.4(FANCA):c.*1011C>T rs17227452
NM_000135.4(FANCA):c.*1012A>G rs886052477
NM_000135.4(FANCA):c.*146C>T rs556325258
NM_000135.4(FANCA):c.*154G>A rs1230
NM_000135.4(FANCA):c.*166G>A rs886052479
NM_000135.4(FANCA):c.*252G>C rs17233797
NM_000135.4(FANCA):c.*286C>T rs17233804
NM_000135.4(FANCA):c.*287G>A rs17227417
NM_000135.4(FANCA):c.*317G>A rs201817705
NM_000135.4(FANCA):c.*385C>G rs17227424
NM_000135.4(FANCA):c.*447T>C rs771942409
NM_000135.4(FANCA):c.*521C>T rs144644592
NM_000135.4(FANCA):c.*654C>T rs17227438
NM_000135.4(FANCA):c.*672del rs66471129
NM_000135.4(FANCA):c.*673A>G rs62704561
NM_000135.4(FANCA):c.*673del rs17233826
NM_000135.4(FANCA):c.*679T>G rs17233833
NM_000135.4(FANCA):c.*679del rs375657470
NM_000135.4(FANCA):c.*819T>C rs186050933
NM_000135.4(FANCA):c.*843C>T rs201316239
NM_000135.4(FANCA):c.*851G>A rs886052478
NM_000135.4(FANCA):c.*937A>G rs55794507
NM_000135.4(FANCA):c.*986G>A rs16966023
NM_000135.4(FANCA):c.-18G>A rs886038245
NM_000135.4(FANCA):c.-28C>G rs886052490
NM_000135.4(FANCA):c.1006+1G>T rs1555564436
NM_000135.4(FANCA):c.1007-7C>G rs111271660
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764
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.1038G>C (p.Trp346Cys) rs750257902
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.1143G>T (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.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1203A>G (p.Pro401=) rs1180493781
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr)
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.1273G>C (p.Asp425His) rs1555561398
NM_000135.4(FANCA):c.1276A>G (p.Ser426Gly) rs985078327
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile)
NM_000135.4(FANCA):c.1286C>T (p.Thr429Ile)
NM_000135.4(FANCA):c.1289C>T (p.Ala430Val)
NM_000135.4(FANCA):c.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.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met) rs1307948857
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys) rs367733447
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val)
NM_000135.4(FANCA):c.133G>A (p.Glu45Lys) rs142990858
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1360-16_1363dup rs1555556321
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.1378C>T (p.Arg460Ter) rs1438828232
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.1470+1G>A rs1555556175
NM_000135.4(FANCA):c.1471-12A>G rs9282684
NM_000135.4(FANCA):c.1471-8A>G rs374717514
NM_000135.4(FANCA):c.1472_1566+1del rs1567628967
NM_000135.4(FANCA):c.1474_1475CA[1] (p.Ile493fs) rs1555554788
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1475A>T (p.His492Leu) rs925457555
NM_000135.4(FANCA):c.1480C>T (p.Leu494Phe) rs1060501886
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359
NM_000135.4(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer) rs878853661
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys) rs200291237
NM_000135.4(FANCA):c.1518C>T (p.Leu506=) rs781524409
NM_000135.4(FANCA):c.1537T>C (p.Leu513=) rs144118098
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp) rs587778309
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn)
NM_000135.4(FANCA):c.1558G>C (p.Asp520His)
NM_000135.4(FANCA):c.1564A>G (p.Lys522Glu) rs1555554630
NM_000135.4(FANCA):c.1566+2C>T rs1316950815
NM_000135.4(FANCA):c.1567-11C>A rs34353618
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383
NM_000135.4(FANCA):c.1606del (p.Ser536fs) rs587776570
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val) rs587778310
NM_000135.4(FANCA):c.1630dup (p.His544fs)
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter) rs1555580427
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) rs201323171
NM_000135.4(FANCA):c.1676A>G (p.Glu559Gly) rs753229112
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met) rs148154682
NM_000135.4(FANCA):c.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.16_36dup (p.Val6_Gly12dup) rs1555581601
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.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293
NM_000135.4(FANCA):c.1740G>A (p.Val580=) rs1400163791
NM_000135.4(FANCA):c.1750C>G (p.Leu584Val)
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln) rs778093769
NM_000135.4(FANCA):c.1776+1G>A rs756140957
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.1777-15C>G rs371919426
NM_000135.4(FANCA):c.1777-1G>C rs755104393
NM_000135.4(FANCA):c.178C>T (p.Leu60Phe) rs1060501885
NM_000135.4(FANCA):c.1796C>G (p.Ser599Cys)
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs) rs1555552006
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282
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.1826+15T>C rs1800337
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.1844dup (p.Ser616fs) rs779375100
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+12C>G rs753101174
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.189+7G>A rs369985388
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp) rs768520283
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.190-2A>T rs183350210
NM_000135.4(FANCA):c.1900+1G>T
NM_000135.4(FANCA):c.1900+7T>A rs377401016
NM_000135.4(FANCA):c.1901-1G>A rs1485075318
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1901-5C>G rs1060504375
NM_000135.4(FANCA):c.1901-9T>G rs886052486
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe) rs776682683
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala) rs1555549412
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro) rs1567621042
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.1A>C (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys) rs587778312
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)
NM_000135.4(FANCA):c.2014+1G>C
NM_000135.4(FANCA):c.2015-1G>A rs1555548632
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.2026C>T (p.Gln676Ter) rs1448463647
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro) rs762526878
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) rs367880372
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs) rs754104046
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+1G>A rs1555548428
NM_000135.4(FANCA):c.2151+2T>C rs937874201
NM_000135.4(FANCA):c.2151+4G>A
NM_000135.4(FANCA):c.2151+8T>C rs1800340
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.2164_2166CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2172G>A (p.Thr724=) rs768851944
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly) rs886052485
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val) rs199938598
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.4(FANCA):c.2222+1G>C rs775388912
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.2303T>C (p.Leu768Pro) rs1490352414
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe)
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)
NM_000135.4(FANCA):c.2316+9C>T rs776301232
NM_000135.4(FANCA):c.2317-1G>T
NM_000135.4(FANCA):c.2317-2A>G rs1567618264
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.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser) rs757468756
NM_000135.4(FANCA):c.2413C>T (p.Pro805Ser)
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066
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.2492_2494TCT[1] (p.Phe832del) rs1310756192
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.2519C>G (p.Ala840Gly) rs587778313
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2528A>G (p.Tyr843Cys) rs1567616244
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2529_2530CT[2] (p.Leu845fs)
NM_000135.4(FANCA):c.2529_2530CT[3] (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr) rs886052484
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe) rs980582362
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.2601+1G>T rs1188581065
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn) rs746889340
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2602-14A>C rs886052483
NM_000135.4(FANCA):c.2602-2A>T rs1555545592
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
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.2628C>A (p.Phe876Leu) rs368987148
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer) rs1555545553
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.2648T>A (p.Leu883His) rs879255256
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.2667del (p.Ser890fs) rs1555545517
NM_000135.4(FANCA):c.2669G>A (p.Ser890Asn)
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys) rs587778316
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu) rs587778315
NM_000135.4(FANCA):c.2722_2723CT[4] (p.Trp911fs) rs878853663
NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe) rs1216426444
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.2762A>T (p.Lys921Ile) rs879255255
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) rs1555545421
NM_000135.4(FANCA):c.2778+10C>T rs371786839
NM_000135.4(FANCA):c.2778+1G>A
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2779-7T>C rs17233253
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.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
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.284-9G>C rs367672895
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.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2853-2A>C rs947311062
NM_000135.4(FANCA):c.2856G>C (p.Gln952His) rs200093209
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr)
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980
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.2910del (p.Gly972fs) rs1278836130
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.295C>T (p.Gln99Ter) rs1057516430
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+1G>A rs1555542860
NM_000135.4(FANCA):c.2981+4dup rs75004096
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg) rs1555540072
NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs) rs1555540048
NM_000135.4(FANCA):c.2994T>C (p.Tyr998=) rs758384536
NM_000135.4(FANCA):c.2T>A (p.Met1Lys) rs769479800
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.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3067-4T>C rs17227064
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val) rs1567603987
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.3138C>T (p.His1046=) rs150884376
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3149A>C (p.Glu1050Ala)
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033
NM_000135.4(FANCA):c.3158G>A (p.Arg1053His) rs371351450
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
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.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3240-3C>T rs1315428324
NM_000135.4(FANCA):c.3241_3626+1del
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.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His)
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His) rs779268656
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter) rs777825824
NM_000135.4(FANCA):c.3348+1G>A rs751266148
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3349-1G>A rs769862233
NM_000135.4(FANCA):c.3349-3C>T rs373861415
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp) rs371208490
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) rs878853664
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del) rs1314042335
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro)
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter) rs1439817346
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.3402dup (p.Phe1135fs) rs1555537347
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.3422C>A (p.Ala1141Asp) rs587778318
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.343G>A (p.Gly115Arg) rs769824282
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.3514-13G>A rs200270574
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.3531G>A (p.Leu1177=) rs886052482
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170
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.3592C>T (p.Gln1198Ter) rs1381684916
NM_000135.4(FANCA):c.3602_3604AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3610_3613del (p.Arg1204fs) rs1555536361
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.3626+1G>T rs34885858
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.3654A>G (p.Pro1218=) rs1800358
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.3696del (p.Phe1232fs) rs1555535527
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val) rs545742908
NM_000135.4(FANCA):c.3700A>G (p.Ile1234Val)
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr) rs886052481
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu) rs769919783
NM_000135.4(FANCA):c.3703_3705CAA[1] (p.Gln1236del) rs1555535513
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln) rs150719428
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del) rs1441710252
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658
NM_000135.4(FANCA):c.3745del (p.Leu1249fs) rs1555535472
NM_000135.4(FANCA):c.3755_3756AG[3] (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3755_3756AG[5] (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.375C>T (p.Cys125=) rs199793463
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val) rs750773229
NM_000135.4(FANCA):c.3766-14G>A rs34476949
NM_000135.4(FANCA):c.3778_3783del (p.Leu1260_Phe1261del) rs1157717956
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.377C>T (p.Thr126Met) rs139160837
NM_000135.4(FANCA):c.3784T>C (p.Phe1262Leu) rs1555534579
NM_000135.4(FANCA):c.3792C>T (p.Ser1264=) rs141128234
NM_000135.4(FANCA):c.3795G>C (p.Leu1265Phe) rs1010989878
NM_000135.4(FANCA):c.3798G>A (p.Met1266Ile) rs1443680543
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=) rs138144828
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val)
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=) rs886052480
NM_000135.4(FANCA):c.3828+1G>A rs1432988639
NM_000135.4(FANCA):c.3828+1G>C rs1432988639
NM_000135.4(FANCA):c.3829-9G>A rs776077648
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro) rs142919010
NM_000135.4(FANCA):c.3858C>A (p.His1286Gln) rs761705192
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.386C>T (p.Ala129Val) rs577625130
NM_000135.4(FANCA):c.387G>A (p.Ala129=)
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3890dup (p.Arg1298fs) rs1555534060
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.3913C>T (p.Leu1305Phe) rs753700179
NM_000135.4(FANCA):c.3934+2T>C rs771775516
NM_000135.4(FANCA):c.3934+74C>G rs56216970
NM_000135.4(FANCA):c.3935-1G>T rs1555533693
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.3971C>T (p.Pro1324Leu) rs182657062
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681
NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del) rs1555533593
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=) rs774576283
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729
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.4015del (p.Leu1339fs) rs762902309
NM_000135.4(FANCA):c.4019C>T (p.Ser1340Phe)
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
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.4056dup (p.Phe1353fs) rs1567593047
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.4(FANCA):c.4080G>A (p.Met1360Ile) rs1555533300
NM_000135.4(FANCA):c.4084T>G (p.Leu1362Val) rs775351812
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=) rs1060501882
NM_000135.4(FANCA):c.4122_4123CA[1] (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.414_415TG[1] (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.4167+2C>T rs374765708
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.4232C>T (p.Pro1411Leu) rs201494304
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828
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.4257dup (p.Glu1420fs) rs1555532946
NM_000135.4(FANCA):c.426+2T>G
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.4260+2T>A rs1555532943
NM_000135.4(FANCA):c.4260+6G>C
NM_000135.4(FANCA):c.4261-2A>C rs915983602
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.4274G>A (p.Arg1425His) rs147406377
NM_000135.4(FANCA):c.4275del (p.Asp1427fs)
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter) rs539460201
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.4316G>C (p.Arg1439Thr) rs587778322
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter) rs767234774
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)
NM_000135.4(FANCA):c.4326T>C (p.Ala1442=) rs1555532716
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs) rs1030509993
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696
NM_000135.4(FANCA):c.445T>G (p.Leu149Val) rs372814783
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu) rs774448881
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg) rs943773590
NM_000135.4(FANCA):c.475A>G (p.Ser159Gly)
NM_000135.4(FANCA):c.480G>A (p.Met160Ile) rs200603300
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter) rs121907930
NM_000135.4(FANCA):c.513dup (p.Lys172fs) rs1555574913
NM_000135.4(FANCA):c.522+1G>T rs1365019056
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000135.4(FANCA):c.523-2A>G rs746518509
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.549G>A (p.Trp183Ter) rs758528624
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile) rs587778323
NM_000135.4(FANCA):c.559G>A (p.Val187Ile) rs761538996
NM_000135.4(FANCA):c.571G>T (p.Val191Leu)
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro) rs886052488
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_000135.4(FANCA):c.596+5C>T
NM_000135.4(FANCA):c.596+6G>A rs369548513
NM_000135.4(FANCA):c.597-1G>C rs147945881
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.688G>A (p.Val230Ile) rs144560850
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.695G>A (p.Arg232Lys) rs886052487
NM_000135.4(FANCA):c.700A>G (p.Met234Val)
NM_000135.4(FANCA):c.701T>C (p.Met234Thr)
NM_000135.4(FANCA):c.709+2T>C rs1555571116
NM_000135.4(FANCA):c.709+5G>A rs759877008
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.710-12A>G rs1800286
NM_000135.4(FANCA):c.710-1G>C rs1388128874
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys)
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg) rs886052489
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu) rs878853666
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.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.79+1G>C rs1483028018
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter)
NM_000135.4(FANCA):c.793-3C>G rs749688050
NM_000135.4(FANCA):c.793-5G>T rs1461529538
NM_000135.4(FANCA):c.793-9T>C rs757500718
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823
NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr) rs1246636933
NM_000135.4(FANCA):c.80-1G>T rs751076878
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487
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.826+5_826+9del rs797045570
NM_000135.4(FANCA):c.827-1G>C rs753728435
NM_000135.4(FANCA):c.835G>T (p.Asp279Tyr) rs1555566625
NM_000135.4(FANCA):c.838G>A (p.Ala280Thr) rs1010833101
NM_000135.4(FANCA):c.839C>T (p.Ala280Val) rs767092317
NM_000135.4(FANCA):c.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.863_866dup (p.Ser290fs) rs1348367722
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.894-2A>G rs976556567
NM_000135.4(FANCA):c.894-8A>G rs11648881
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_000135.4(FANCA):c.989_995del (p.His330fs) rs1555564451
NM_000136.2(FANCC):c.-78-?_250+?del
NM_000136.2(FANCC):c.997-?_1154+?del
NM_000136.3(FANCC):c.*1045C>T rs537983135
NM_000136.3(FANCC):c.*116A>C rs7048910
NM_000136.3(FANCC):c.*1262T>C rs45520432
NM_000136.3(FANCC):c.*1276C>A rs1057515698
NM_000136.3(FANCC):c.*1288T>C rs4647554
NM_000136.3(FANCC):c.*1332A>G rs191983554
NM_000136.3(FANCC):c.*1339C>T rs144155068
NM_000136.3(FANCC):c.*1359C>G rs1009336483
NM_000136.3(FANCC):c.*143A>G rs189154697
NM_000136.3(FANCC):c.*1483T>C rs552548603
NM_000136.3(FANCC):c.*1495T>G rs41281198
NM_000136.3(FANCC):c.*1516A>G rs541816451
NM_000136.3(FANCC):c.*1727T>C rs4647557
NM_000136.3(FANCC):c.*1871G>A rs4647558
NM_000136.3(FANCC):c.*1879C>T rs192262179
NM_000136.3(FANCC):c.*1895T>C rs56161090
NM_000136.3(FANCC):c.*1895T>G rs56161090
NM_000136.3(FANCC):c.*1968G>A rs114827984
NM_000136.3(FANCC):c.*2052G>C rs539833295
NM_000136.3(FANCC):c.*2085C>A rs4647559
NM_000136.3(FANCC):c.*2128C>T rs567507884
NM_000136.3(FANCC):c.*2271G>A rs562841213
NM_000136.3(FANCC):c.*2296G>A rs561975553
NM_000136.3(FANCC):c.*2305G>A rs562465438
NM_000136.3(FANCC):c.*249C>T rs1046795121
NM_000136.3(FANCC):c.*2528A>G rs1057515696
NM_000136.3(FANCC):c.*254G>A rs773331481
NM_000136.3(FANCC):c.*2552T>C rs9673
NM_000136.3(FANCC):c.*338C>A rs920400068
NM_000136.3(FANCC):c.*359A>G rs4647551
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000136.3(FANCC):c.*450G>A rs149227790
NM_000136.3(FANCC):c.*516T>G rs1004604171
NM_000136.3(FANCC):c.*576C>T rs1057515701
NM_000136.3(FANCC):c.*593C>G rs561885351
NM_000136.3(FANCC):c.*5C>T rs117175949
NM_000136.3(FANCC):c.*604_*605del rs56271854
NM_000136.3(FANCC):c.*667C>T rs150462386
NM_000136.3(FANCC):c.*715_*718AGTT[2] rs56250966
NM_000136.3(FANCC):c.*825C>A rs1057515700
NM_000136.3(FANCC):c.*884C>T rs1038927110
NM_000136.3(FANCC):c.*97dup rs1057515705
NM_000136.3(FANCC):c.*983C>T rs56059656
NM_000136.3(FANCC):c.-155A>C rs549658720
NM_000136.3(FANCC):c.-172G>T rs1057515706
NM_000136.3(FANCC):c.-225C>T rs182633348
NM_000136.3(FANCC):c.-246A>G rs1000528763
NM_000136.3(FANCC):c.-29A>C rs4647414
NM_000136.3(FANCC):c.-2A>G rs773045474
NM_000136.3(FANCC):c.-79+1G>A rs1228886763
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.1037dup (p.Ser347fs) rs1057516248
NM_000136.3(FANCC):c.1048A>G (p.Met350Val) rs863224607
NM_000136.3(FANCC):c.1067C>A (p.Pro356His) rs1060502517
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu)
NM_000136.3(FANCC):c.1072+1G>A rs1554830789
NM_000136.3(FANCC):c.1073-1G>C rs1554830249
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.108_109dup (p.His37fs) rs1057517131
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.1103_1104del (p.Leu368fs) rs1057516919
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.1144del (p.Gln382fs) rs1057516313
NM_000136.3(FANCC):c.1146G>C (p.Gln382His) rs770809637
NM_000136.3(FANCC):c.1151_1152del (p.His384fs) rs1554830220
NM_000136.3(FANCC):c.1154+2dup rs1386979449
NM_000136.3(FANCC):c.1155-1G>A rs1554829575
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.1175_1176AG[3] (p.Ser393fs) rs1554829561
NM_000136.3(FANCC):c.117del (p.Gln40fs) rs1057517147
NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter) rs1554829555
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.1207T>C (p.Trp403Arg) rs1554829543
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter) rs200719554
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.127G>A (p.Glu43Lys) rs374836770
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.1309C>T (p.Gln437Ter) rs944083227
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+134del rs1554829392
NM_000136.3(FANCC):c.1329+157C>T rs1554829380
NM_000136.3(FANCC):c.1329+166_1329+168del rs1554829374
NM_000136.3(FANCC):c.1329+169C>T rs1554829373
NM_000136.3(FANCC):c.1329+181_1329+183del rs587778328
NM_000136.3(FANCC):c.1329+1G>T rs1554829441
NM_000136.3(FANCC):c.1329+238C>T rs768988593
NM_000136.3(FANCC):c.1329+246del rs542091036
NM_000136.3(FANCC):c.1329+265T>G rs1554829329
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.1333C>T (p.Gln445Ter) rs1057516298
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.1393C>T (p.Gln465Ter)
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.1417C>T (p.Gln473Ter) rs1410356625
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.1487T>G (p.Leu496Arg) rs121917785
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.1495C>T (p.Pro499Ser) rs1564641164
NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter) rs1057516963
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.1517G>A (p.Trp506Ter) rs1057516488
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+1G>C rs753885687
NM_000136.3(FANCC):c.1533+2T>C rs1057517170
NM_000136.3(FANCC):c.1533+5G>A
NM_000136.3(FANCC):c.1533+9C>T rs863224323
NM_000136.3(FANCC):c.1534-1G>T rs1364238660
NM_000136.3(FANCC):c.1534-2A>G rs1554827166
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.1549_1553del (p.Glu517fs) rs1554827159
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
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.1587_1590dup (p.Tyr531fs) rs1554827136
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.1599G>A (p.Trp533Ter) rs1057516455
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.1628C>A (p.Ser543Ter) rs867319477
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.165+1G>T rs794726668
NM_000136.3(FANCC):c.165+1del rs1554858249
NM_000136.3(FANCC):c.166-5C>T rs753820400
NM_000136.3(FANCC):c.166-7T>C rs369052148
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.1669C>G (p.Gln557Glu) rs863224610
NM_000136.3(FANCC):c.1670_1674dup (p.Ter559LysextTer?) rs1554827101
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe)
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.3(FANCC):c.191T>G (p.Phe64Cys) rs375921240
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser)
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg) rs777111154
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr) rs567465885
NM_000136.3(FANCC):c.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>C rs1057517219
NM_000136.3(FANCC):c.251-2A>G rs1057517219
NM_000136.3(FANCC):c.262A>C (p.Lys88Gln) rs1060502519
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
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.307C>T (p.Gln103Ter) rs1057516384
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+1del rs1057516247
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>A rs1484503633
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.356_360del (p.Ser119fs) rs1060499606
NM_000136.3(FANCC):c.371C>T (p.Ala124Val) rs374602991
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
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.38A>G (p.Gln13Arg) rs199968672
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905
NM_000136.3(FANCC):c.397C>T (p.Leu133Phe) rs587779906
NM_000136.3(FANCC):c.399T>G (p.Leu133=) rs864622764
NM_000136.3(FANCC):c.3G>A (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.3G>T (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg) rs1564720454
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.457-1G>T rs1057516917
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.519del (p.Arg173fs) rs1564719070
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763
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.558_563del (p.Cys187_Val188del) rs1554838595
NM_000136.3(FANCC):c.560G>A (p.Cys187Tyr) rs1239389302
NM_000136.3(FANCC):c.565C>G (p.Pro189Ala) rs377620735
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr)
NM_000136.3(FANCC):c.584A>G (p.Asp195Gly) rs1800365
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.591C>G (p.Asp197Glu) rs1457631500
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
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.640dup (p.Ile214fs) rs1057517203
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.65G>A (p.Trp22Ter) rs377294947
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.686+1G>T rs1057517125
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.831del (p.Asp278fs) rs1057516792
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr) rs757190154
NM_000136.3(FANCC):c.838T>C (p.Ser280Pro)
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) rs749230615
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520
NM_000136.3(FANCC):c.843+1G>A rs587779909
NM_000136.3(FANCC):c.843+1G>C 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.871T>C (p.Phe291Leu)
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.941_943dup (p.Thr314dup) rs1554832862
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>A rs370510954
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_000175.5(GPI):c.1028A>G (p.Gln343Arg) rs267606851
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1124C>G (p.Thr375Arg) rs267606853
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705
NM_000175.5(GPI):c.14C>T (p.Thr5Ile) rs267606852
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr) rs137853584
NM_000175.5(GPI):c.1615G>A (p.Asp539Asn) rs137853585
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634
NM_000178.4(GSS):c.*181C>T rs773689812
NM_000178.4(GSS):c.*2G>A rs36000727
NM_000178.4(GSS):c.*390G>T rs886056639
NM_000178.4(GSS):c.*391A>T rs886056638
NM_000178.4(GSS):c.*69G>T rs200882573
NM_000178.4(GSS):c.*90A>G rs35747685
NM_000178.4(GSS):c.-16G>A rs575728230
NM_000178.4(GSS):c.-18A>G rs886056640
NM_000178.4(GSS):c.-29T>A rs886056641
NM_000178.4(GSS):c.-46A>G rs886056642
NM_000178.4(GSS):c.-63G>C rs192442930
NM_000178.4(GSS):c.-80G>C rs570588543
NM_000178.4(GSS):c.-9+5G>A rs1555889738
NM_000178.4(GSS):c.1054G>A (p.Ala352Thr)
NM_000178.4(GSS):c.1158G>A (p.Leu386=) rs141866304
NM_000178.4(GSS):c.1186A>G (p.Ile396Val) rs771438550
NM_000178.4(GSS):c.1203C>T (p.Ile401=) rs138574949
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln) rs150141794
NM_000178.4(GSS):c.1260C>G (p.Val420=) rs369657861
NM_000178.4(GSS):c.373C>T (p.Arg125Cys) rs28936396
NM_000178.4(GSS):c.448G>A (p.Ala150Thr) rs549377370
NM_000178.4(GSS):c.491G>A (p.Arg164Gln) rs121909307
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000178.4(GSS):c.631C>G (p.Gln211Glu)
NM_000178.4(GSS):c.656A>G (p.Asp219Gly) rs28938472
NM_000178.4(GSS):c.73C>G (p.Arg25Gly) rs930264754
NM_000178.4(GSS):c.754C>T (p.Arg252Ter) rs749741013
NM_000178.4(GSS):c.768-3C>T rs184506175
NM_000178.4(GSS):c.799C>T (p.Arg267Trp) rs121909308
NM_000178.4(GSS):c.834+4G>C rs201359061
NM_000178.4(GSS):c.847C>T (p.Arg283Cys) rs121909309
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000178.4(GSS):c.957G>A (p.Met319Ile) rs202181009
NM_000184.2(HBG2):c.-167C>A rs34809449
NM_000184.2(HBG2):c.-167C>T rs34809449
NM_000184.2(HBG2):c.-211C>T rs7482144
NM_000184.2(HBG2):c.-228T>C rs63750654
NM_000184.2(HBG2):c.-255C>G rs35617911
NM_000184.2(HBG2):c.277C>T (p.His93Tyr) rs35103459
NM_000184.3(HBG2):c.125T>C (p.Phe42Ser) rs34878913
NM_000184.3(HBG2):c.190C>T (p.His64Tyr) rs34474104
NM_000184.3(HBG2):c.202G>A (p.Val68Met) rs587776864
NM_000186.3(CFH):c.*14G>A rs463726
NM_000186.3(CFH):c.*178T>A rs488738
NM_000186.3(CFH):c.*98C>T rs35742764
NM_000186.3(CFH):c.-124G>T rs527444515
NM_000186.3(CFH):c.-175T>C rs762143457
NM_000186.3(CFH):c.-195T>C rs35836460
NM_000186.3(CFH):c.-36G>C rs140356702
NM_000186.3(CFH):c.-61A>G rs886045741
NM_000186.3(CFH):c.-79A>G rs35906110
NM_000186.3(CFH):c.103G>A (p.Gly35Ser) rs886045742
NM_000186.3(CFH):c.1126C>T (p.Gln376Ter)
NM_000186.3(CFH):c.1160-15T>C rs34815383
NM_000186.3(CFH):c.1204C>T (p.His402Tyr) rs1061170
NM_000186.3(CFH):c.1291T>A (p.Cys431Ser) rs121913056
NM_000186.3(CFH):c.1318_1327del (p.Pro440fs) rs1558162157
NM_000186.3(CFH):c.1336+4A>G
NM_000186.3(CFH):c.1419G>A (p.Ala473=) rs2274700
NM_000186.3(CFH):c.1428A>G (p.Gln476=) rs34399588
NM_000186.3(CFH):c.1548T>A (p.Asn516Lys) rs147403664
NM_000186.3(CFH):c.1606T>C (p.Cys536Arg) rs121913052
NM_000186.3(CFH):c.1652T>C (p.Ile551Thr) rs35453854
NM_000186.3(CFH):c.1736T>C (p.Val579Ala) rs201411537
NM_000186.3(CFH):c.184G>A (p.Val62Ile) rs800292
NM_000186.3(CFH):c.1935G>T (p.Thr645=) rs56035657
NM_000186.3(CFH):c.1949G>T (p.Gly650Val) rs143237092
NM_000186.3(CFH):c.2016A>G (p.Gln672=) rs3753396
NM_000186.3(CFH):c.2196G>A (p.Thr732=) rs144325643
NM_000186.3(CFH):c.2215A>G (p.Thr739Ala) rs886045745
NM_000186.3(CFH):c.2236+8T>A rs7537967
NM_000186.3(CFH):c.2397del (p.Glu800fs) rs1131690796
NM_000186.3(CFH):c.245-7G>A rs35814900
NM_000186.3(CFH):c.2461C>T (p.His821Tyr) rs367687415
NM_000186.3(CFH):c.2509G>A (p.Val837Ile) rs55807605
NM_000186.3(CFH):c.2542G>A (p.Gly848Arg) rs886045746
NM_000186.3(CFH):c.2634C>T (p.His878=) rs35292876
NM_000186.3(CFH):c.2637A>G (p.Gly879=) rs55752475
NM_000186.3(CFH):c.2639C>T (p.Thr880Ile) rs186711438
NM_000186.3(CFH):c.2669G>T (p.Ser890Ile) rs515299
NM_000186.3(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.3(CFH):c.275C>T (p.Pro92Leu) rs886045743
NM_000186.3(CFH):c.2784C>A (p.Gly928=) rs755926856
NM_000186.3(CFH):c.2808G>T (p.Glu936Asp) rs1065489
NM_000186.3(CFH):c.2850G>T (p.Gln950His) rs149474608
NM_000186.3(CFH):c.285T>C (p.Thr95=) rs148182625
NM_000186.3(CFH):c.2867C>T (p.Thr956Met) rs145975787
NM_000186.3(CFH):c.2876G>A (p.Cys959Tyr) rs121913053
NM_000186.3(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.3(CFH):c.2957-7A>G rs190778135
NM_000186.3(CFH):c.3004G>C (p.Gly1002Arg) rs201816520
NM_000186.3(CFH):c.3019G>T (p.Val1007Leu) rs534399
NM_000186.3(CFH):c.3050C>T (p.Thr1017Ile) rs34362004
NM_000186.3(CFH):c.3102T>C (p.Asn1034=) rs34594237
NM_000186.3(CFH):c.3133+8G>T rs142718541
NM_000186.3(CFH):c.3134-7T>C rs779166622
NM_000186.3(CFH):c.3138C>T (p.Thr1046=) rs61822181
NM_000186.3(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867
NM_000186.3(CFH):c.3172T>C (p.Tyr1058His) rs55679475
NM_000186.3(CFH):c.3176T>C (p.Ile1059Thr) rs35343172
NM_000186.3(CFH):c.3178G>C (p.Val1060Leu) rs55771831
NM_000186.3(CFH):c.3207T>C (p.Ser1069=) rs62641697
NM_000186.3(CFH):c.3310+12T>C rs757045842
NM_000186.3(CFH):c.3427C>G (p.Gln1143Glu) rs15809
NM_000186.3(CFH):c.350+9T>C rs201686629
NM_000186.3(CFH):c.3514G>T (p.Glu1172Ter) rs121913060
NM_000186.3(CFH):c.3542T>C (p.Leu1181Ser)
NM_000186.3(CFH):c.3566T>G (p.Leu1189Arg) rs121913055
NM_000186.3(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.3(CFH):c.3590T>C (p.Val1197Ala) rs460184
NM_000186.3(CFH):c.3592G>T (p.Glu1198Ter) rs121913063
NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys) rs121913059
NM_000186.3(CFH):c.3643C>G (p.Arg1215Gly) rs121913051
NM_000186.3(CFH):c.3677_*4del (p.Pro1226_Ter1232delinsXaa) rs796052136
NM_000186.3(CFH):c.380G>T (p.Arg127Leu) rs121913058
NM_000186.3(CFH):c.428-14T>C rs184188486
NM_000186.3(CFH):c.428-3C>T rs886045744
NM_000186.3(CFH):c.477T>C (p.Ser159=) rs34940854
NM_000186.3(CFH):c.481G>T (p.Ala161Ser) rs777300338
NM_000186.3(CFH):c.565G>T (p.Glu189Ter) rs121913054
NM_000186.3(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000186.3(CFH):c.59-10T>G
NM_000186.3(CFH):c.710_711del (p.Lys236_Cys237insTer) rs1553273733
NM_000186.3(CFH):c.770G>A (p.Arg257His) rs140107330
NM_000186.3(CFH):c.83_86del (p.Arg28fs) rs796052137
NM_000186.3(CFH):c.921A>C (p.Ala307=) rs1061147
NM_000194.2(HPRT1):c.-707_27+2236del
NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro) rs137852480
NM_000194.2(HPRT1):c.151C>G (p.Arg51Gly) rs137852494
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly) rs137852502
NM_000194.2(HPRT1):c.172G>A (p.Gly58Arg) rs137852500
NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu) rs137852487
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu) rs137852481
NM_000194.2(HPRT1):c.232C>G (p.Leu78Val) rs137852501
NM_000194.2(HPRT1):c.239A>T (p.Asp80Val) rs137852478
NM_000194.2(HPRT1):c.312C>A (p.Ser104Arg) rs137852485
NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu) rs137852482
NM_000194.2(HPRT1):c.389T>A (p.Val130Asp) rs137852483
NM_000194.2(HPRT1):c.396T>G (p.Ile132Met) rs137852477
NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp) rs137852503
NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter) rs137852505
NM_000194.2(HPRT1):c.46G>A (p.Gly16Ser) rs137852499
NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser) rs137852484
NM_000194.2(HPRT1):c.503C>T (p.Thr168Ile) rs137852498
NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn) rs267606863
NM_000194.2(HPRT1):c.582C>G (p.Asp194Glu) rs137852504
NM_000194.2(HPRT1):c.595T>G (p.Phe199Val) rs137852486
NM_000194.2(HPRT1):c.602A>G (p.Asp201Gly) rs137852479
NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs) rs387906428
NM_000194.3(HPRT1):c.134G>A (p.Arg45Lys) rs137852491
NM_000194.3(HPRT1):c.143G>A (p.Arg48His) rs387906725
NM_000194.3(HPRT1):c.193C>T (p.Leu65Phe) rs137852506
NM_000194.3(HPRT1):c.28-2A>T rs1569354918
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.428T>A (p.Met143Lys) rs137852496
NM_000194.3(HPRT1):c.47G>T (p.Gly16Val) rs1135401801
NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile) rs886042455
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter) rs137852497
NM_000194.3(HPRT1):c.527C>T (p.Pro176Leu) rs137852493
NM_000194.3(HPRT1):c.529G>T (p.Asp177Tyr) rs137852492
NM_000194.3(HPRT1):c.532+5G>A rs1569360089
NM_000194.3(HPRT1):c.536T>C (p.Val179Ala) rs1569360120
NM_000194.3(HPRT1):c.609+5G>A rs1569360139
NM_000194.3(HPRT1):c.609dup (p.His204fs) rs1556030169
NM_000194.3(HPRT1):c.610-4_610-2delinsTTT rs672601245
NM_000194.3(HPRT1):c.610C>G (p.His204Asp) rs137852490
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_000204.4(CFI):c.*112C>T rs551
NM_000204.4(CFI):c.*144T>C rs77449037
NM_000204.4(CFI):c.*214A>G rs28361433
NM_000204.4(CFI):c.*7G>T rs80173133
NM_000204.4(CFI):c.-13G>A rs113612355
NM_000204.4(CFI):c.-98T>C rs886058984
NM_000204.4(CFI):c.1044+8C>T rs190420174
NM_000204.4(CFI):c.1044+9G>A rs568070697
NM_000204.4(CFI):c.1112G>T (p.Gly371Val) rs763931500
NM_000204.4(CFI):c.1165C>T (p.Arg389Cys)
NM_000204.4(CFI):c.1206C>T (p.Pro402=) rs115780371
NM_000204.4(CFI):c.1217G>A (p.Arg406His) rs74817407
NM_000204.4(CFI):c.1246A>C (p.Ile416Leu) rs61733901
NM_000204.4(CFI):c.129C>T (p.Cys43=) rs146462954
NM_000204.4(CFI):c.1322A>G (p.Lys441Arg) rs41278047
NM_000204.4(CFI):c.1381T>C (p.Phe461Leu) rs886058983
NM_000204.4(CFI):c.1410T>C (p.Ser470=) rs200068862
NM_000204.4(CFI):c.1420C>T (p.Arg474Ter) rs121964913
NM_000204.4(CFI):c.1429+5A>G rs771786368
NM_000204.4(CFI):c.1429+8T>C rs184313022
NM_000204.4(CFI):c.1429G>C (p.Asp477His) rs754972981
NM_000204.4(CFI):c.1443C>T (p.Val481=) rs114091883
NM_000204.4(CFI):c.1516A>C (p.Lys506Gln) rs886058982
NM_000204.4(CFI):c.1532C>T (p.Ala511Val) rs760801046
NM_000204.4(CFI):c.1534+5G>T rs114013791
NM_000204.4(CFI):c.1555G>A (p.Asp519Asn) rs121964918
NM_000204.4(CFI):c.1571A>T (p.Asp524Val) rs121964914
NM_000204.4(CFI):c.1581C>T (p.Gly527=) rs181378677
NM_000204.4(CFI):c.1637G>A (p.Trp546Ter) rs121964915
NM_000204.4(CFI):c.1642G>C (p.Glu548Gln) rs7437875
NM_000204.4(CFI):c.1657C>T (p.Pro553Ser) rs113460688
NM_000204.4(CFI):c.1661A>T (p.Glu554Val) rs754572081
NM_000204.4(CFI):c.1709G>C (p.Ser570Thr) rs200973120
NM_000204.4(CFI):c.205A>G (p.Lys69Glu) rs771325547
NM_000204.4(CFI):c.209A>C (p.Asn70Thr)
NM_000204.4(CFI):c.309C>T (p.Asn103=) rs761425840
NM_000204.4(CFI):c.310G>A (p.Gly104Arg) rs200419722
NM_000204.4(CFI):c.315A>T (p.Thr105=) rs61745205
NM_000204.4(CFI):c.319A>G (p.Thr107Ala) rs201419000
NM_000204.4(CFI):c.355G>A (p.Gly119Arg) rs141853578
NM_000204.4(CFI):c.405T>C (p.Asp135=) rs375792874
NM_000204.4(CFI):c.482+14T>A rs76014294
NM_000204.4(CFI):c.482+6C>T rs79375065
NM_000204.4(CFI):c.540A>G (p.Glu180=) rs759777516
NM_000204.4(CFI):c.559C>T (p.Arg187Ter) rs368615806
NM_000204.4(CFI):c.608C>T (p.Thr203Ile) rs138346388
NM_000204.4(CFI):c.782G>A (p.Gly261Asp) rs112534524
NM_000204.4(CFI):c.804G>A (p.Ser268=) rs2298749
NM_000204.4(CFI):c.884-7T>C rs140555685
NM_000204.4(CFI):c.905-3T>C rs377535161
NM_000204.4(CFI):c.916A>G (p.Ile306Val) rs113273712
NM_000204.4(CFI):c.949C>T (p.Arg317Trp) rs121964917
NM_000229.1(LCAT):c.[349G>A;544C>T]
NM_000229.2(LCAT):c.*12T>C rs886052219
NM_000229.2(LCAT):c.1034C>T (p.Thr345Met) rs28940888
NM_000229.2(LCAT):c.1039C>T (p.Arg347Cys) rs202017590
NM_000229.2(LCAT):c.1177C>T (p.Leu393=) rs5923
NM_000229.2(LCAT):c.1197dup (p.Gln400fs) rs794726663
NM_000229.2(LCAT):c.1210A>G (p.Met404Val) rs779114194
NM_000229.2(LCAT):c.159C>T (p.Pro53=) rs556480808
NM_000229.2(LCAT):c.321C>A (p.Tyr107Ter) rs121908055
NM_000229.2(LCAT):c.367C>T (p.Arg123Cys) rs140068549
NM_000229.2(LCAT):c.475C>T (p.Arg159Trp) rs28940887
NM_000229.2(LCAT):c.491_493dup (p.Ala165_Ala166insGly) rs794726662
NM_000229.2(LCAT):c.508T>C (p.Trp170Arg) rs267607211
NM_000229.2(LCAT):c.534G>T (p.Glu178Asp) rs886052220
NM_000229.2(LCAT):c.698T>C (p.Leu233Pro) rs28942087
NM_000229.2(LCAT):c.748+13C>G rs750086555
NM_000229.2(LCAT):c.756C>A (p.Asn252Lys) rs121908049
NM_000229.2(LCAT):c.827T>A (p.Met276Lys) rs121908054
NM_000229.2(LCAT):c.951G>A (p.Met317Ile) rs121908048
NM_000229.2(LCAT):c.981A>C (p.Gly327=) rs139453193
NM_000229.2(LCAT):c.997G>A (p.Val333Met) rs776035233
NM_000253.3(MTTP):c.*1044G>T rs886058965
NM_000253.3(MTTP):c.*1046C>G rs1061271
NM_000253.3(MTTP):c.*1118C>T rs144013236
NM_000253.3(MTTP):c.*183C>T rs74542928
NM_000253.3(MTTP):c.*279C>G rs115807483
NM_000253.3(MTTP):c.*382T>C rs556994625
NM_000253.3(MTTP):c.*41A>G rs886058959
NM_000253.3(MTTP):c.*454dup rs545365701
NM_000253.3(MTTP):c.*490_*494del rs886058963
NM_000253.3(MTTP):c.*506A>G rs6832119
NM_000253.3(MTTP):c.*517A>T rs886058964
NM_000253.3(MTTP):c.*55G>C rs192882987
NM_000253.3(MTTP):c.*694A>C rs187658213
NM_000253.3(MTTP):c.*82G>A rs886058960
NM_000253.3(MTTP):c.*862C>A rs6832927
NM_000253.3(MTTP):c.*989T>C rs183510498
NM_000253.3(MTTP):c.*98T>A rs886058961
NM_000253.3(MTTP):c.-149C>A rs886058955
NM_000253.3(MTTP):c.-153C>G rs886058954
NM_000253.3(MTTP):c.-205G>A rs886058953
NM_000253.3(MTTP):c.-214G>A rs569667113
NM_000253.3(MTTP):c.-241G>A rs11944752
NM_000253.3(MTTP):c.-252G>C rs11944749
NM_000253.3(MTTP):c.-28T>C rs886058956
NM_000253.3(MTTP):c.-54C>T rs181769817
NM_000253.3(MTTP):c.-6G>A rs41275707
NM_000253.3(MTTP):c.-82C>T rs767201629
NM_000253.3(MTTP):c.-84T>C rs761717058
NM_000253.3(MTTP):c.1016C>A (p.Ala339Glu) rs137956833
NM_000253.3(MTTP):c.1016C>T (p.Ala339Val) rs137956833
NM_000253.3(MTTP):c.1023A>G (p.Lys341=) rs145724674
NM_000253.3(MTTP):c.1151A>C (p.Asp384Ala) rs17029215
NM_000253.3(MTTP):c.1237-1G>A rs1560621444
NM_000253.3(MTTP):c.1304T>A (p.Leu435His) rs1560621495
NM_000253.3(MTTP):c.136C>G (p.Arg46Gly) rs141736123
NM_000253.3(MTTP):c.1477G>T (p.Ala493Ser) rs758939873
NM_000253.3(MTTP):c.1557+7T>A rs142706742
NM_000253.3(MTTP):c.1558-2A>G rs1553927840
NM_000253.3(MTTP):c.1619G>A (p.Arg540His) rs199422220
NM_000253.3(MTTP):c.1769+14C>T rs41275713
NM_000253.3(MTTP):c.1769+3A>G rs375993709
NM_000253.3(MTTP):c.1769+9C>T rs34734558
NM_000253.3(MTTP):c.1769G>T (p.Ser590Ile) rs199422222
NM_000253.3(MTTP):c.1770-10T>C rs1194740423
NM_000253.3(MTTP):c.1783C>T (p.Arg595Ter) rs199422219
NM_000253.3(MTTP):c.1888A>G (p.Thr630Ala) rs368679444
NM_000253.3(MTTP):c.1981G>A (p.Gly661Ser) rs113337987
NM_000253.3(MTTP):c.2041G>A (p.Glu681Lys) rs886058958
NM_000253.3(MTTP):c.2043G>A (p.Glu681=) rs145444300
NM_000253.3(MTTP):c.215del (p.Pro72fs) rs1560614154
NM_000253.3(MTTP):c.2167G>A (p.Asp723Asn) rs371023325
NM_000253.3(MTTP):c.2212del (p.Ser738fs) rs755681036
NM_000253.3(MTTP):c.2237G>A (p.Gly746Glu) rs767833468
NM_000253.3(MTTP):c.2338A>T (p.Asn780Tyr) rs199422221
NM_000253.3(MTTP):c.2433G>C (p.Leu811Phe) rs144590904
NM_000253.3(MTTP):c.2513+13G>A rs148073215
NM_000253.3(MTTP):c.2593G>T (p.Gly865Ter) rs146064714
NM_000253.3(MTTP):c.2636A>G (p.Lys879Arg) rs114049933
NM_000253.3(MTTP):c.2657C>T (p.Pro886Leu) rs144600401
NM_000253.3(MTTP):c.285G>C (p.Gln95His) rs61733139
NM_000253.3(MTTP):c.294G>C (p.Glu98Asp) rs2306986
NM_000253.3(MTTP):c.307A>T (p.Lys103Ter) rs1560614646
NM_000253.3(MTTP):c.383T>C (p.Ile128Thr) rs3816873
NM_000253.3(MTTP):c.394-7C>T rs368989581
NM_000253.3(MTTP):c.39C>G (p.Ser13=) rs7667001
NM_000253.3(MTTP):c.453T>C (p.Gly151=) rs991811
NM_000253.3(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_000253.3(MTTP):c.497A>G (p.Asn166Ser) rs3792683
NM_000253.3(MTTP):c.502G>A (p.Val168Ile) rs61750974
NM_000253.3(MTTP):c.522T>C (p.Cys174=) rs982424
NM_000253.3(MTTP):c.552A>T (p.Lys184Asn) rs144315111
NM_000253.3(MTTP):c.660T>C (p.Tyr220=) rs113557405
NM_000253.3(MTTP):c.695C>T (p.Ala232Val) rs748108500
NM_000253.3(MTTP):c.704_705CA[2] (p.His236fs) rs1553926818
NM_000253.3(MTTP):c.730C>G (p.Gln244Glu) rs17599091
NM_000253.3(MTTP):c.799T>C (p.Leu267=) rs7672497
NM_000253.3(MTTP):c.833A>G (p.Lys278Arg) rs886058957
NM_000253.3(MTTP):c.891C>G (p.His297Gln) rs2306985
NM_000253.3(MTTP):c.901T>C (p.Cys301Arg) rs759706918
NM_000253.3(MTTP):c.933C>A (p.Thr311=) rs17029213
NM_000253.3(MTTP):c.969T>C (p.Ala323=) rs17533489
NM_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.1228G>C (p.Ala410Pro) rs121913582
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.1753C>T (p.Arg585Ter) rs121913580
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.2640_2642del (p.Ile881del) rs797044443
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.3380dup (p.Ala1128fs) rs797044445
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.*134G>A rs886049456
NM_000289.6(PFKM):c.*3C>T rs367783282
NM_000289.6(PFKM):c.*489T>A rs886049457
NM_000289.6(PFKM):c.*503G>T rs747797192
NM_000289.6(PFKM):c.*622G>A rs568063197
NM_000289.6(PFKM):c.*98G>A rs886049455
NM_000289.6(PFKM):c.1005A>G (p.Val335=) rs1454843075
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) rs762357629
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly)
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu) rs121918193
NM_000289.6(PFKM):c.1191+1G>A
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.1341+1G>T
NM_000289.6(PFKM):c.1342-14G>T rs56117548
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala) rs121918194
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer)
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys) rs121918196
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.2093-14A>G rs11168427
NM_000289.6(PFKM):c.2199-12A>G rs202008060
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser)
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser)
NM_000289.6(PFKM):c.360C>T (p.Gly120=) rs886049453
NM_000289.6(PFKM):c.428-2A>C
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
NM_000289.6(PFKM):c.638+15C>A rs376150217
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro) rs137852539
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735
NM_000291.4(PGK1):c.140T>A (p.Ile47Asn) rs137852536
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144
NM_000291.4(PGK1):c.263T>C (p.Leu88Pro) rs137852531
NM_000291.4(PGK1):c.473G>T (p.Gly158Val) rs137852532
NM_000291.4(PGK1):c.491A>T (p.Asp164Val) rs137852538
NM_000291.4(PGK1):c.571_573AAG[1] (p.Lys192del) rs431905502
NM_000291.4(PGK1):c.617G>C (p.Arg206Pro) rs137852529
NM_000291.4(PGK1):c.756+5G>A rs431905503
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534
NM_000291.4(PGK1):c.796_798delinsATG (p.Val266Met) rs431905501
NM_000291.4(PGK1):c.802G>A (p.Asp268Asn) rs137852528
NM_000291.4(PGK1):c.854A>T (p.Asp285Val) rs137852535
NM_000291.4(PGK1):c.946T>C (p.Cys316Arg) rs137852533
NM_000291.4(PGK1):c.959G>A (p.Ser320Asn) rs137852537
NM_000298.6(PKLR):c.*1040G>A rs8847
NM_000298.6(PKLR):c.*1041C>T rs528740550
NM_000298.6(PKLR):c.*1067T>C rs559809916
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000298.6(PKLR):c.*13T>G rs1052177
NM_000298.6(PKLR):c.*14C>T rs8177994
NM_000298.6(PKLR):c.*267C>T rs932972
NM_000298.6(PKLR):c.*275C>T rs886045350
NM_000298.6(PKLR):c.*342C>T rs879040355
NM_000298.6(PKLR):c.*346_*348del rs556763356
NM_000298.6(PKLR):c.*351T>A rs886045349
NM_000298.6(PKLR):c.*499G>A rs777573500
NM_000298.6(PKLR):c.*582G>A rs758139094
NM_000298.6(PKLR):c.*779C>A rs886045348
NM_000298.6(PKLR):c.*866T>C rs886045347
NM_000298.6(PKLR):c.*893T>G rs41264939
NM_000298.6(PKLR):c.-26C>T rs200181342
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg) rs752423472
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp) rs765903674
NM_000298.6(PKLR):c.111G>T (p.Gly37=) rs141341788
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met) rs74315362
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp) rs375189218
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val) rs756549612
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys) rs118204084
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) rs146708702
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) rs149946271
NM_000298.6(PKLR):c.1436G>A (p.Arg479His) rs118204085
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp) rs200133000
NM_000298.6(PKLR):c.1511G>A (p.Arg504His)
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641
NM_000298.6(PKLR):c.1705C>A (p.Arg569=) rs1052176
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly) rs886045353
NM_000298.6(PKLR):c.284-9T>C rs886045352
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg) rs918627824
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr) rs118204089
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys) rs118204083
NM_000298.6(PKLR):c.507G>A (p.Gly169=) rs201674983
NM_000298.6(PKLR):c.639G>T (p.Val213=) rs750102822
NM_000298.6(PKLR):c.6G>A (p.Ser2=) rs139697646
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser) rs745797890
NM_000298.6(PKLR):c.790C>T (p.Leu264=) rs199959447
NM_000298.6(PKLR):c.909G>C (p.Pro303=) rs200840994
NM_000298.6(PKLR):c.918C>A (p.His306Gln) rs141571402
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys) rs1557959063
NM_000298.6(PKLR):c.965+12G>A rs200039500
NM_000324.2(RHAG):c.1007T>C (p.Leu336Ser) rs1554172605
NM_000324.2(RHAG):c.1067+1G>A rs1562012617
NM_000324.2(RHAG):c.1086del (p.Ala363fs) rs1562011389
NM_000324.2(RHAG):c.1139G>T (p.Gly380Val) rs121918589
NM_000324.2(RHAG):c.154_157delinsGA (p.Pro52fs) rs387906519
NM_000324.2(RHAG):c.157+1G>A rs375508949
NM_000324.2(RHAG):c.182T>G (p.Ile61Arg) rs863225469
NM_000324.2(RHAG):c.194T>C (p.Phe65Ser) rs863225468
NM_000324.2(RHAG):c.236G>A (p.Ser79Asn) rs121918586
NM_000324.2(RHAG):c.3G>T (p.Met1Ile) rs121918588
NM_000324.2(RHAG):c.447T>G (p.Ile149Met) rs1554174425
NM_000324.2(RHAG):c.808G>A (p.Val270Ile) rs16879498
NM_000324.2(RHAG):c.836G>A (p.Gly279Glu) rs121918587
NM_000324.2(RHAG):c.946-1G>A rs1562012697
NM_000324.2(RHAG):c.[808G>A;838G>A]
NM_000342.3(SLC4A1):c.(1094_1375)_(2057+11_2058-41)del
NM_000342.3(SLC4A1):c.-62G>A rs387906565
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.3(SLC4A1):c.2312G>A (p.Gly771Asp) rs121912741
NM_000342.3(SLC4A1):c.2464_2465insCACCCAGATG (p.Val822Alafs) rs387906566
NM_000342.3(SLC4A1):c.2509A>G (p.Thr837Ala) rs121912750
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys) rs28929480
NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg) rs121912749
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter) rs56361140
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583
NM_000342.3(SLC4A1):c.988C>T (p.Gln330Ter) rs121912742
NM_000342.4(SLC4A1):c.*1103del rs111655803
NM_000342.4(SLC4A1):c.*1198A>T rs886052992
NM_000342.4(SLC4A1):c.*1227A>C rs141425539
NM_000342.4(SLC4A1):c.*1237C>T rs774513767
NM_000342.4(SLC4A1):c.*1273G>T rs769140134
NM_000342.4(SLC4A1):c.*1273del rs768606768
NM_000342.4(SLC4A1):c.*1316C>T rs886052991
NM_000342.4(SLC4A1):c.*135G>A rs566741511
NM_000342.4(SLC4A1):c.*1568G>A rs5033
NM_000342.4(SLC4A1):c.*1596A>C rs886052990
NM_000342.4(SLC4A1):c.*1606_*1608dup rs57466226
NM_000342.4(SLC4A1):c.*1608del rs57466226
NM_000342.4(SLC4A1):c.*1608dup rs57466226
NM_000342.4(SLC4A1):c.*1676A>G rs745898810
NM_000342.4(SLC4A1):c.*1721G>A rs62078947
NM_000342.4(SLC4A1):c.*1832G>A rs886052988
NM_000342.4(SLC4A1):c.*270G>A rs5027
NM_000342.4(SLC4A1):c.*333C>A rs2072081
NM_000342.4(SLC4A1):c.*335G>A rs13306777
NM_000342.4(SLC4A1):c.*349G>A rs1465204
NM_000342.4(SLC4A1):c.*351G>T rs138242019
NM_000342.4(SLC4A1):c.*408C>T rs45555735
NM_000342.4(SLC4A1):c.*794del rs45515496
NM_000342.4(SLC4A1):c.*872G>C rs886052994
NM_000342.4(SLC4A1):c.*897G>A rs5030
NM_000342.4(SLC4A1):c.*947C>G rs368389948
NM_000342.4(SLC4A1):c.*977G>A rs886052993
NM_000342.4(SLC4A1):c.-135G>A rs183529485
NM_000342.4(SLC4A1):c.-136C>T rs566359654
NM_000342.4(SLC4A1):c.-30C>T rs148028272
NM_000342.4(SLC4A1):c.-60G>A rs75489266
NM_000342.4(SLC4A1):c.-65C>A rs886053001
NM_000342.4(SLC4A1):c.113A>C (p.Asp38Ala) rs5035
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1225G>A (p.Val409Ile) rs201821517
NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=) rs5015
NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=) rs13306781
NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg) rs1555596165
NM_000342.4(SLC4A1):c.1323G>A (p.Leu441=) rs5017
NM_000342.4(SLC4A1):c.1431+13T>G rs747632229
NM_000342.4(SLC4A1):c.1431+15G>T rs886052999
NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter) rs1555596072
NM_000342.4(SLC4A1):c.16-14G>A rs145502796
NM_000342.4(SLC4A1):c.1637A>G (p.Asp546Gly) rs886052998
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys) rs368863744
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=) rs35807245
NM_000342.4(SLC4A1):c.1805G>C (p.Arg602Pro) rs121912754
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=) rs5020
NM_000342.4(SLC4A1):c.1953C>T (p.His651=) rs5021
NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys) rs13306787
NM_000342.4(SLC4A1):c.2060T>C (p.Leu687Pro) rs863225463
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp) rs121912748
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788
NM_000342.4(SLC4A1):c.2191T>C (p.Ser731Pro) rs863225461
NM_000342.4(SLC4A1):c.2201A>G (p.His734Arg) rs863225462
NM_000342.4(SLC4A1):c.2208C>T (p.Asn736=) rs766674440
NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val) rs886052997
NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu) rs886052996
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His) rs866727908
NM_000342.4(SLC4A1):c.2482-9C>T rs886052995
NM_000342.4(SLC4A1):c.2545_2547GTG[1] (p.Val850del) rs121912752
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.2584G>A (p.Val862Ile) rs5026
NM_000342.4(SLC4A1):c.2630T>C (p.Ile877Thr) rs765911147
NM_000342.4(SLC4A1):c.2688T>C (p.Asp896=) rs45497993
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032
NM_000342.4(SLC4A1):c.486-2A>G rs1555596757
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654
NM_000342.4(SLC4A1):c.636A>G (p.Ser212=) rs886053000
NM_000342.4(SLC4A1):c.695-3C>A rs772264078
NM_000342.4(SLC4A1):c.697C>G (p.Arg233Gly) rs779054292
NM_000342.4(SLC4A1):c.876+14G>A rs571092411
NM_000342.4(SLC4A1):c.884G>A (p.Arg295His) rs140424071
NM_000342.4(SLC4A1):c.924G>A (p.Leu308=) rs5013
NM_000355.3(TCN2):c.-250C>T rs5753231
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.*127C>T rs12160073
NM_000355.4(TCN2):c.*209G>C rs146450057
NM_000355.4(TCN2):c.*225A>T rs2072195
NM_000355.4(TCN2):c.*29C>A rs190828416
NM_000355.4(TCN2):c.*300T>G rs187942607
NM_000355.4(TCN2):c.*313dup rs397940476
NM_000355.4(TCN2):c.*381T>G rs149713328
NM_000355.4(TCN2):c.*382C>T rs56076607
NM_000355.4(TCN2):c.*444C>T rs10418
NM_000355.4(TCN2):c.*82C>T rs12169610
NM_000355.4(TCN2):c.*93G>C rs886057398
NM_000355.4(TCN2):c.-153C>G rs886057395
NM_000355.4(TCN2):c.-34A>G rs199511962
NM_000355.4(TCN2):c.-98T>G rs370882214
NM_000355.4(TCN2):c.1017C>G (p.Leu339=) rs35997415
NM_000355.4(TCN2):c.1023G>A (p.Pro341=) rs76802001
NM_000355.4(TCN2):c.1043C>T (p.Ser348Phe) rs9621049
NM_000355.4(TCN2):c.1052C>T (p.Ala351Val)
NM_000355.4(TCN2):c.1058C>G (p.Ser353Cys) rs539987014
NM_000355.4(TCN2):c.1092G>A (p.Glu364=) rs886057397
NM_000355.4(TCN2):c.109C>T (p.His37Tyr)
NM_000355.4(TCN2):c.1109A>G (p.Tyr370Cys)
NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser) rs1131603
NM_000355.4(TCN2):c.1168G>A (p.Gly390Arg) rs367605153
NM_000355.4(TCN2):c.1195C>G (p.Arg399Gly) rs769817524
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889
NM_000355.4(TCN2):c.1235A>G (p.Tyr412Cys) rs745363222
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly) rs148963479
NM_000355.4(TCN2):c.1246G>A (p.Asp416Asn)
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551
NM_000355.4(TCN2):c.154C>T (p.Pro52Ser) rs1555894597
NM_000355.4(TCN2):c.164A>G (p.Tyr55Cys)
NM_000355.4(TCN2):c.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.353T>C (p.Phe118Ser) rs199728304
NM_000355.4(TCN2):c.362G>A (p.Gly121Asp)
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp) rs886057396
NM_000355.4(TCN2):c.409G>A (p.Asp137Asn) rs775586639
NM_000355.4(TCN2):c.428-2_428-1del
NM_000355.4(TCN2):c.428-4T>C rs201408393
NM_000355.4(TCN2):c.459C>T (p.Ser153=) rs201344377
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln) rs117353193
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu) rs146009793
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000355.4(TCN2):c.566G>A (p.Gly189Asp)
NM_000355.4(TCN2):c.572A>G (p.His191Arg)
NM_000355.4(TCN2):c.581-8A>C rs7290898
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000355.4(TCN2):c.626C>G (p.Ser209Ter) rs796064505
NM_000355.4(TCN2):c.64+11C>T rs141519384
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp) rs35838082
NM_000355.4(TCN2):c.644G>A (p.Arg215Gln) rs760721315
NM_000355.4(TCN2):c.65-6T>A
NM_000355.4(TCN2):c.65-8T>C rs773798398
NM_000355.4(TCN2):c.67A>G (p.Ile23Val) rs9606756
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.776G>C (p.Arg259Pro) rs1801198
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.810G>T (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.840T>C (p.Asp280=) rs79999752
NM_000355.4(TCN2):c.843A>T (p.Gly281=)
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg) rs116605132
NM_000355.4(TCN2):c.903C>T (p.Tyr301=) rs146036025
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105
NM_000355.4(TCN2):c.927_930del (p.Cys309fs) rs1157135425
NM_000355.4(TCN2):c.941-13C>T rs192009509
NM_000355.4(TCN2):c.998C>T (p.Thr333Met) rs117458738
NM_000361.2(THBD):c.*1001A>C rs3176123
NM_000361.2(THBD):c.*1153A>G rs886056542
NM_000361.2(THBD):c.*1171C>G rs143450327
NM_000361.2(THBD):c.*1239G>A rs549574979
NM_000361.2(THBD):c.*1315C>T rs886056541
NM_000361.2(THBD):c.*1469C>T rs3176124
NM_000361.2(THBD):c.*1562G>T rs183647515
NM_000361.2(THBD):c.*158G>A rs3176121
NM_000361.2(THBD):c.*1689C>T rs886056540
NM_000361.2(THBD):c.*1770T>C rs113252822
NM_000361.2(THBD):c.*1869G>A rs886056539
NM_000361.2(THBD):c.*1918G>A rs1962
NM_000361.2(THBD):c.*1993T>C rs3176136
NM_000361.2(THBD):c.*2129C>A rs372816835
NM_000361.2(THBD):c.*2143C>T rs3176126
NM_000361.2(THBD):c.*26C>T rs13306852
NM_000361.2(THBD):c.*277G>A rs3176134
NM_000361.2(THBD):c.*321G>T rs56354707
NM_000361.2(THBD):c.*325T>C rs186669520
NM_000361.2(THBD):c.*338C>T rs536637715
NM_000361.2(THBD):c.*351A>G rs11696919
NM_000361.2(THBD):c.*41T>C rs377311614
NM_000361.2(THBD):c.*47C>T rs551028498
NM_000361.2(THBD):c.*497G>A rs3176122
NM_000361.2(THBD):c.*508dup rs373979588
NM_000361.2(THBD):c.*520C>G rs41282276
NM_000361.2(THBD):c.*562G>C rs886056544
NM_000361.2(THBD):c.*663C>T rs886056543
NM_000361.2(THBD):c.*759A>T rs73611750
NM_000361.2(THBD):c.*793A>G rs1042580
NM_000361.2(THBD):c.*87T>G rs3176133
NM_000361.2(THBD):c.*943dup rs759004623
NM_000361.2(THBD):c.-12C>T rs370548660
NM_000361.2(THBD):c.-38G>A rs750724405
NM_000361.2(THBD):c.-58G>C rs13306849
NM_000361.2(THBD):c.1029A>G (p.Thr343=) rs79349426
NM_000361.2(THBD):c.1083G>A (p.Glu361=) rs370377519
NM_000361.2(THBD):c.1092G>A (p.Glu364=) rs73901577
NM_000361.2(THBD):c.1208G>A (p.Arg403Lys) rs41400249
NM_000361.2(THBD):c.127G>A (p.Ala43Thr) rs1800576
NM_000361.2(THBD):c.1418C>T (p.Ala473Val) rs1042579
NM_000361.2(THBD):c.1456G>T (p.Asp486Tyr) rs41348347
NM_000361.2(THBD):c.1483C>T (p.Pro495Ser) rs1800578
NM_000361.2(THBD):c.1502C>T (p.Pro501Leu) rs1800579
NM_000361.2(THBD):c.1528G>A (p.Val510Met) rs555537779
NM_000361.2(THBD):c.158A>G (p.Asp53Gly) rs121918667
NM_000361.2(THBD):c.1712C>T (p.Thr571Met) rs1166732867
NM_000361.2(THBD):c.331G>A (p.Val111Ile) rs886056549
NM_000361.2(THBD):c.40G>A (p.Gly14Ser) rs191884040
NM_000361.2(THBD):c.656G>T (p.Gly219Val) rs886056548
NM_000361.2(THBD):c.675C>T (p.Thr225=) rs775568682
NM_000361.2(THBD):c.683C>T (p.Pro228Leu) rs375011249
NM_000361.2(THBD):c.716C>T (p.Ala239Val) rs886056547
NM_000361.2(THBD):c.747C>G (p.Asn249Lys) rs886056546
NM_000361.2(THBD):c.920C>T (p.Ser307Leu) rs372556297
NM_000371.3(TTR):c.424G>A (p.Val142Ile) rs76992529
NM_000373.3(UMPS):c.-110A>G rs2279198
NM_000373.3(UMPS):c.-28A>G rs1139538
NM_000373.3(UMPS):c.-67T>C rs2279199
NM_000373.3(UMPS):c.[286A>G;285G>C]
NM_000373.4(UMPS):c.*1050C>T rs186445088
NM_000373.4(UMPS):c.*1051G>T rs2242248
NM_000373.4(UMPS):c.*1080A>G rs780894047
NM_000373.4(UMPS):c.*1088T>G rs535422876
NM_000373.4(UMPS):c.*1153C>T rs768119744
NM_000373.4(UMPS):c.*1155T>C rs112368493
NM_000373.4(UMPS):c.*1211C>A rs11706118
NM_000373.4(UMPS):c.*1298_*1299del rs11330991
NM_000373.4(UMPS):c.*1299del rs11330991
NM_000373.4(UMPS):c.*1306_*1307del rs777742646
NM_000373.4(UMPS):c.*1319G>A rs821375
NM_000373.4(UMPS):c.*1326C>A rs2242249
NM_000373.4(UMPS):c.*1342C>T rs183081203
NM_000373.4(UMPS):c.*1349G>A rs138112683
NM_000373.4(UMPS):c.*1418T>A rs886057874
NM_000373.4(UMPS):c.*1517C>A rs74477033
NM_000373.4(UMPS):c.*1520del rs758378045
NM_000373.4(UMPS):c.*1535G>A rs886057875
NM_000373.4(UMPS):c.*1711T>G rs10934684
NM_000373.4(UMPS):c.*1840A>G rs183441859
NM_000373.4(UMPS):c.*1902G>A rs147465900
NM_000373.4(UMPS):c.*2054A>G rs886057876
NM_000373.4(UMPS):c.*2159C>T rs559652457
NM_000373.4(UMPS):c.*2172A>G rs886057877
NM_000373.4(UMPS):c.*2202del rs397844102
NM_000373.4(UMPS):c.*2230C>T rs565272396
NM_000373.4(UMPS):c.*2356T>C rs148772995
NM_000373.4(UMPS):c.*2410_*2412del rs886057878
NM_000373.4(UMPS):c.*2412_*2414GAA[1] rs369976877
NM_000373.4(UMPS):c.*2605G>A rs554810943
NM_000373.4(UMPS):c.*2614G>A rs4677940
NM_000373.4(UMPS):c.*2632C>A rs886057879
NM_000373.4(UMPS):c.*2671T>G rs886057880
NM_000373.4(UMPS):c.*2672_*2673TG[18] rs58981387
NM_000373.4(UMPS):c.*2672_*2673TG[20] rs58981387
NM_000373.4(UMPS):c.*2672_*2673TG[22] rs58981387
NM_000373.4(UMPS):c.*2672_*2673TG[24] rs58981387
NM_000373.4(UMPS):c.*2672_*2673TG[25] rs58981387
NM_000373.4(UMPS):c.*2672_*2673TG[26] rs58981387
NM_000373.4(UMPS):c.*2703G>A rs886057883
NM_000373.4(UMPS):c.*2715_*2718del rs886057884
NM_000373.4(UMPS):c.*2716T>C rs886057885
NM_000373.4(UMPS):c.*2884A>G rs139426908
NM_000373.4(UMPS):c.*28A>G rs3772810
NM_000373.4(UMPS):c.*2901G>C rs144492816
NM_000373.4(UMPS):c.*2930_*2933TTTG[4] rs10631393
NM_000373.4(UMPS):c.*2995A>G rs1979411
NM_000373.4(UMPS):c.*3026G>A rs1979412
NM_000373.4(UMPS):c.*3065C>T rs116880739
NM_000373.4(UMPS):c.*3083G>T rs886057887
NM_000373.4(UMPS):c.*3130C>T rs374728245
NM_000373.4(UMPS):c.*3131G>A rs140750390
NM_000373.4(UMPS):c.*3152G>A rs1979413
NM_000373.4(UMPS):c.*3183dup rs11443775
NM_000373.4(UMPS):c.*3193T>C rs886057889
NM_000373.4(UMPS):c.*3258A>C rs886057890
NM_000373.4(UMPS):c.*3264G>A rs190423326
NM_000373.4(UMPS):c.*3359G>T rs752390899
NM_000373.4(UMPS):c.*3367C>A rs768556841
NM_000373.4(UMPS):c.*3374C>G rs143276999
NM_000373.4(UMPS):c.*3376C>T rs76151694
NM_000373.4(UMPS):c.*3414A>G rs115977637
NM_000373.4(UMPS):c.*3447T>C rs764528076
NM_000373.4(UMPS):c.*3495T>C rs886057891
NM_000373.4(UMPS):c.*3537G>A rs606369
NM_000373.4(UMPS):c.*3589C>T rs10934685
NM_000373.4(UMPS):c.*3598C>G rs886057892
NM_000373.4(UMPS):c.*3701C>T rs768769772
NM_000373.4(UMPS):c.*3732C>T rs111966656
NM_000373.4(UMPS):c.*3990A>T rs77082052
NM_000373.4(UMPS):c.*4013_*4017ATATA[1] rs541152211
NM_000373.4(UMPS):c.*4016T>C rs77601301
NM_000373.4(UMPS):c.*4065C>T rs759188574
NM_000373.4(UMPS):c.*4078T>C rs13315593
NM_000373.4(UMPS):c.*4116G>A rs886057894
NM_000373.4(UMPS):c.*4138T>G rs593292
NM_000373.4(UMPS):c.*4178A>G rs758463509
NM_000373.4(UMPS):c.*4215C>T rs780219461
NM_000373.4(UMPS):c.*4231A>G rs886057895
NM_000373.4(UMPS):c.*4252G>T rs117707217
NM_000373.4(UMPS):c.*4263T>C rs558675693
NM_000373.4(UMPS):c.*4278G>A rs11927687
NM_000373.4(UMPS):c.*4316C>A rs689449
NM_000373.4(UMPS):c.*4344T>C rs180944864
NM_000373.4(UMPS):c.*4430C>T rs591963
NM_000373.4(UMPS):c.*4485G>T rs591896
NM_000373.4(UMPS):c.*4486G>A rs591886
NM_000373.4(UMPS):c.*4496G>A rs886057896
NM_000373.4(UMPS):c.*4511G>A rs569255721
NM_000373.4(UMPS):c.*4717C>T rs117624716
NM_000373.4(UMPS):c.*4755G>A rs189776179
NM_000373.4(UMPS):c.*4765_*4767del rs886057897
NM_000373.4(UMPS):c.*4862A>G rs886057898
NM_000373.4(UMPS):c.*4876C>G rs192036374
NM_000373.4(UMPS):c.*4883C>T rs148029686
NM_000373.4(UMPS):c.*4895A>G rs142288742
NM_000373.4(UMPS):c.*4906G>C rs702039
NM_000373.4(UMPS):c.*5014C>T rs569469184
NM_000373.4(UMPS):c.*5027A>G rs886057899
NM_000373.4(UMPS):c.*5120_*5124del rs556352266
NM_000373.4(UMPS):c.*5133del rs886057901
NM_000373.4(UMPS):c.*526A>G rs2242246
NM_000373.4(UMPS):c.*56del rs3836305
NM_000373.4(UMPS):c.*691C>G rs886057872
NM_000373.4(UMPS):c.*725A>T rs2242247
NM_000373.4(UMPS):c.*726C>T rs649652
NM_000373.4(UMPS):c.*814C>T rs763914466
NM_000373.4(UMPS):c.*868del rs570945751
NM_000373.4(UMPS):c.*983C>T rs11706036
NM_000373.4(UMPS):c.*993A>T rs74704429
NM_000373.4(UMPS):c.-19A>G rs747117815
NM_000373.4(UMPS):c.1038A>G (p.Pro346=) rs17843835
NM_000373.4(UMPS):c.1050T>A (p.Val350=) rs2291078
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser) rs1344899647
NM_000373.4(UMPS):c.1157C>T (p.Ala386Val) rs202158549
NM_000373.4(UMPS):c.1273+14C>T rs374339942
NM_000373.4(UMPS):c.1320C>T (p.Gly440=) rs13146
NM_000373.4(UMPS):c.1336A>G (p.Ile446Val) rs3772809
NM_000373.4(UMPS):c.1374T>C (p.Asp458=) rs200608473
NM_000373.4(UMPS):c.18A>G (p.Ala6=) rs141501397
NM_000373.4(UMPS):c.21T>C (p.Ala7=) rs17843775
NM_000373.4(UMPS):c.326T>G (p.Val109Gly) rs121917892
NM_000373.4(UMPS):c.385G>T (p.Gly129Ter) rs747405574
NM_000373.4(UMPS):c.441T>C (p.Thr147=) rs886057871
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019
NM_000373.4(UMPS):c.827G>A (p.Ser276Asn) rs140804035
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) rs200305064
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) rs17843776
NM_000373.4(UMPS):c.953T>C (p.Ile318Thr) rs375535366
NM_000375.2(UROS):c.148_244del (p.Leu50Serfs)
NM_000375.3(UROS):c.*178G>A rs569628154
NM_000375.3(UROS):c.*24A>G rs760003189
NM_000375.3(UROS):c.*37G>T rs372132511
NM_000375.3(UROS):c.*99A>G rs886046814
NM_000375.3(UROS):c.-136C>T rs539482783
NM_000375.3(UROS):c.-185G>A rs4256900
NM_000375.3(UROS):c.-203T>C rs397515348
NM_000375.3(UROS):c.-219C>A rs4385801
NM_000375.3(UROS):c.-232G>A rs886046815
NM_000375.3(UROS):c.-26-183G>A rs397515349
NM_000375.3(UROS):c.-26-193C>A rs397515350
NM_000375.3(UROS):c.-26-197C>A rs397515351
NM_000375.3(UROS):c.-27+10G>A rs376517536
NM_000375.3(UROS):c.-31G>T rs73381212
NM_000375.3(UROS):c.10C>T (p.Leu4Phe) rs121908015
NM_000375.3(UROS):c.139T>C (p.Ser47Pro) rs397515527
NM_000375.3(UROS):c.158C>T (p.Pro53Leu) rs121908013
NM_000375.3(UROS):c.184A>G (p.Thr62Ala) rs28941775
NM_000375.3(UROS):c.197C>T (p.Ala66Val) rs28941774
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012
NM_000375.3(UROS):c.243A>T (p.Glu81Asp) rs121908018
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016
NM_000375.3(UROS):c.251A>C (p.Glu84Ala) rs763606042
NM_000375.3(UROS):c.27G>A (p.Ala9=) rs150059279
NM_000375.3(UROS):c.311C>T (p.Ala104Val) rs397515528
NM_000375.3(UROS):c.327A>C (p.Lys109Asn) rs369561042
NM_000375.3(UROS):c.338A>T (p.Asp113Val) rs117926090
NM_000375.3(UROS):c.395-1dup rs796051859
NM_000375.3(UROS):c.475+14T>A rs17425877
NM_000375.3(UROS):c.512T>C (p.Val171Ala) rs17173752
NM_000375.3(UROS):c.512T>G (p.Val171Gly) rs17173752
NM_000375.3(UROS):c.562G>A (p.Gly188Arg) rs121908017
NM_000375.3(UROS):c.562G>T (p.Gly188Trp) rs121908017
NM_000375.3(UROS):c.63+1G>A rs373864821
NM_000375.3(UROS):c.661-31T>G
NM_000375.3(UROS):c.673G>A (p.Gly225Ser) rs121908020
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014
NM_000375.3(UROS):c.691G>A (p.Ala231Thr) rs780837512
NM_000375.3(UROS):c.743C>A (p.Pro248Gln) rs121908021
NM_000384.2(APOB):c.11905del (p.Glu3969Asnfs) rs387906569
NM_000384.3(APOB):c.*11G>T rs72654428
NM_000384.3(APOB):c.*179C>T rs142151703
NM_000384.3(APOB):c.*180G>T rs12720763
NM_000384.3(APOB):c.*207C>A rs886055566
NM_000384.3(APOB):c.*229A>G rs72654430
NM_000384.3(APOB):c.*85T>C rs886055569
NM_000384.3(APOB):c.10575C>T (p.Ser3525=) rs142573551
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.3(APOB):c.1061A>G (p.Glu354Gly) rs149227065
NM_000384.3(APOB):c.10633G>T (p.Glu3545Ter) rs759934326
NM_000384.3(APOB):c.10701G>A (p.Thr3567=) rs12713558
NM_000384.3(APOB):c.10737C>T (p.Thr3579=) rs12713554
NM_000384.3(APOB):c.1075A>G (p.Ser359Gly) rs757383498
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr) rs141982176
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln) rs1801701
NM_000384.3(APOB):c.10929T>C (p.Ser3643=) rs886055578
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu) rs61741974
NM_000384.3(APOB):c.11312A>T (p.Tyr3771Phe) rs773390117
NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile) rs143710616
NM_000384.3(APOB):c.11362G>A (p.Glu3788Lys) rs13306191
NM_000384.3(APOB):c.11443G>A (p.Val3815Met) rs551178628
NM_000384.3(APOB):c.11466G>A (p.Val3822=) rs755842633
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val) rs762255105
NM_000384.3(APOB):c.11571G>A (p.Val3857=) rs113604891
NM_000384.3(APOB):c.11712del (p.Asn3904fs) rs587776852
NM_000384.3(APOB):c.11808C>T (p.Ile3936=) rs12720852
NM_000384.3(APOB):c.11816G>A (p.Gly3939Asp) rs142828185
NM_000384.3(APOB):c.11820G>T (p.Thr3940=) rs72654417
NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala) rs1801698
NM_000384.3(APOB):c.11855G>A (p.Arg3952His) rs886055576
NM_000384.3(APOB):c.11904-15T>A rs370325726
NM_000384.3(APOB):c.11904-7C>T rs12720851
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys) rs373477107
NM_000384.3(APOB):c.11929A>C (p.Asn3977His) rs761528809
NM_000384.3(APOB):c.11942C>T (p.Pro3981Leu) rs886055575
NM_000384.3(APOB):c.12024C>T (p.Thr4008=) rs145269223
NM_000384.3(APOB):c.12088-14T>C rs182329513
NM_000384.3(APOB):c.12088-23dup rs751121092
NM_000384.3(APOB):c.12137G>A (p.Arg4046Gln) rs149273387
NM_000384.3(APOB):c.12178G>C (p.Glu4060Gln) rs886055574
NM_000384.3(APOB):c.12181del (p.Glu4061fs) rs121918385
NM_000384.3(APOB):c.12219C>T (p.Asn4073=) rs886055573
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr) rs12714225
NM_000384.3(APOB):c.12252T>C (p.Tyr4084=) rs138157751
NM_000384.3(APOB):c.12443C>A (p.Ala4148Asp) rs756476242
NM_000384.3(APOB):c.12444C>A (p.Ala4148=) rs757789853
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys) rs1042031
NM_000384.3(APOB):c.12807T>C (p.Tyr4269=) rs181340304
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr) rs1801702
NM_000384.3(APOB):c.12903C>T (p.Asp4301=) rs200145506
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys) rs886055572
NM_000384.3(APOB):c.129G>C (p.Ala43=) rs12720850
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn) rs1042034
NM_000384.3(APOB):c.13102C>G (p.Gln4368Glu) rs72654424
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser) rs151333262
NM_000384.3(APOB):c.13302C>T (p.Ser4434=) rs144040999
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val) rs142702699
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met) rs12713450
NM_000384.3(APOB):c.1353-12C>T rs76202659
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys) rs886055571
NM_000384.3(APOB):c.1400C>G (p.Ala467Gly) rs376602710
NM_000384.3(APOB):c.1470+15T>C rs185550846
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) rs13306194
NM_000384.3(APOB):c.1785C>G (p.Ser595=) rs139864087
NM_000384.3(APOB):c.1853C>T (p.Ala618Val) rs679899
NM_000384.3(APOB):c.2160C>T (p.Tyr720=) rs756184175
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys) rs143425834
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn) rs12714192
NM_000384.3(APOB):c.2244+3G>A rs12714189
NM_000384.3(APOB):c.2604+15G>C rs72653066
NM_000384.3(APOB):c.2706C>T (p.Asn902=) rs1801700
NM_000384.3(APOB):c.2728G>T (p.Gly910Cys) rs747610107
NM_000384.3(APOB):c.2740C>T (p.His914Tyr) rs775976285
NM_000384.3(APOB):c.2786del (p.Pro929fs) rs1553385404
NM_000384.3(APOB):c.2823A>G (p.Thr941=) rs200868559
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347
NM_000384.3(APOB):c.285C>A (p.Ser95Arg) rs143613534
NM_000384.3(APOB):c.2861C>T (p.Pro954Leu) rs148943299
NM_000384.3(APOB):c.288G>T (p.Gln96His) rs186544754
NM_000384.3(APOB):c.2917C>A (p.Leu973Met) rs886055592
NM_000384.3(APOB):c.293C>T (p.Thr98Ile) rs1367117
NM_000384.3(APOB):c.3122-6G>A rs72653071
NM_000384.3(APOB):c.3165G>T (p.Arg1055=) rs748079943
NM_000384.3(APOB):c.3178T>C (p.Leu1060=) rs72653073
NM_000384.3(APOB):c.3331A>C (p.Ser1111Arg) rs886055591
NM_000384.3(APOB):c.3332+12C>T rs370058811
NM_000384.3(APOB):c.3426G>A (p.Ser1142=) rs142448733
NM_000384.3(APOB):c.3471T>C (p.Tyr1157=) rs201128198
NM_000384.3(APOB):c.3509-10G>A rs12720770
NM_000384.3(APOB):c.3509-11C>T rs200768300
NM_000384.3(APOB):c.354C>A (p.Asn118Lys) rs781633079
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn) rs375894411
NM_000384.3(APOB):c.3614_3625delinsCTTAGG (p.His1205_Asn1209delinsProTer) rs1553384441
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met) rs61736761
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile) rs72653078
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr) rs200261177
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079
NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) rs121918383
NM_000384.3(APOB):c.400G>T (p.Ala134Ser) rs368321279
NM_000384.3(APOB):c.4089C>G (p.Tyr1363Ter) rs1553384177
NM_000384.3(APOB):c.4143C>A (p.Asp1381Glu) rs754597311
NM_000384.3(APOB):c.4163G>A (p.Arg1388His) rs13306187
NM_000384.3(APOB):c.4216+4A>G rs886055588
NM_000384.3(APOB):c.433C>T (p.Pro145Ser) rs6752026
NM_000384.3(APOB):c.4352del (p.Gly1451fs) rs397514256
NM_000384.3(APOB):c.4365C>T (p.Phe1455=) rs12720847
NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter) rs121918389
NM_000384.3(APOB):c.4449A>G (p.Glu1483=) rs151018874
NM_000384.3(APOB):c.4656T>C (p.Ser1552=) rs761580028
NM_000384.3(APOB):c.4929G>A (p.Ala1643=) rs200623857
NM_000384.3(APOB):c.4968A>T (p.Ala1656=) rs753643550
NM_000384.3(APOB):c.5006A>G (p.Asn1669Ser) rs886055586
NM_000384.3(APOB):c.5238T>G (p.Tyr1746Ter) rs1553383898
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) rs281865425
NM_000384.3(APOB):c.538-9C>T rs1800478
NM_000384.3(APOB):c.5463del (p.His1822fs) rs397514255
NM_000384.3(APOB):c.5490C>G (p.Ala1830=) rs886055585
NM_000384.3(APOB):c.5566_5567del (p.Val1856fs) rs121918384
NM_000384.3(APOB):c.5600G>A (p.Arg1867Gln) rs371337253