ClinVar Miner

List of variants reported as pathogenic for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1831
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HGVS dbSNP
ABCD4, 1456G-T
AMN, IVS3, A-G, -2
APOB, 1-BP DEL, 4432T
APOB, EX21DEL
ATRX, IVSAS, T-A, -10
CD59, 1-BP DEL, CODON 16
DKC1, -141C-G, PROMOTER
DKC1, IVS1, C-G, +592
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, 1-BP DEL 161A
GIF, 1-BP INS, 1175T
GIF, 4-BP DEL, 183GAAT
GIF, IVS1AS, G-A, -1
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
MPL, 1-BP DEL, 1499T
MPL, IVS10AS, G-T, -1
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)_(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.(?_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.(?_1280263)_(1280463_?)del
NC_000005.9:g.(?_1280267)_(1280459_?)del
NC_000009.11:g.(?_97863982)_(98270649_?)del
NC_000012.10:g.54711095_54731551del
NC_000014.8:g.(?_103336519)_(103397037_?)del
NC_000015.9:g.(?_89790860)_(89860362_?)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.(?_3658431)_(3659567_?)del
NC_000016.9:g.(?_89804999)_(89883033_?)del
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.(?_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.(?_89877105)_(89883033_?)del
NC_000016.9:g.(?_89877109)_(89883029_?)del
NC_000016.9:g.(?_89880922)_(89883029_?)del
NC_000017.10:g.(?_56769995)_(56770159_?)del
NC_000017.10:g.(?_56769995)_(56787361_?)del
NC_000017.10:g.(?_56769999)_(56787357_?)del
NC_000017.10:g.(?_56769999)_(56811589_?)del
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)_(56811593_?)del
NC_000017.10:g.(?_56798097)_(56811593_?)del
NC_000017.10:g.(?_56798101)_(56798179_?)del
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.(?_59760647)_(59770883_?)del
NC_000017.10:g.(?_59760647)_(59793434_?)del
NC_000017.10:g.(?_59760651)_(59761507_?)del
NC_000017.10:g.(?_59793302)_(59886128_?)del
NC_000017.10:g.(?_59820368)_(59886124_?)del
NC_000017.10:g.(?_59853756)_(59878841_?)del
NC_000017.10:g.(?_59853756)_(59938906_?)del
NC_000017.10:g.(?_59924452)_(59926627_?)del
NC_000017.10:g.(?_59924462)_(59926617_?)del
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.(?_7572921)_(8285634_?)del
NC_000018.9:g.(?_2920271)_(2960858_?)del
NC_000019.9:g.(?_42373091)_(42375455_?)del
NC_000020.10:g.(?_18492869)_(18496380_?)del
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.(?_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_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_000006.1:g.34164_37967del3804
NG_011706.1:g.10587_63081del
NG_011706.1:g.13291_71928del
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.100G>T (p.Glu34Ter) rs80358391
NM_000059.3(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.3(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.3(BRCA2):c.4648G>T (p.Glu1550Ter) rs80358695
NM_000059.3(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721
NM_000059.3(BRCA2):c.5453C>A (p.Ser1818Ter) rs1566232471
NM_000059.3(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.3(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
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.631+1G>A rs81002897
NM_000059.3(BRCA2):c.631+2T>G rs81002899
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.3(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
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.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.7579del (p.Ala2526_Val2527insTer) rs1555286294
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
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.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8732C>A (p.Ala2911Glu) rs80359130
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.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.9672dup (p.Tyr3225fs) rs80359773
NM_000059.3(BRCA2):c.9693del (p.Leu3232fs) rs1566260827
NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs) rs386134138
NM_000096.3(CP):c.606dupA (p.Asp203Argfs) rs386134143
NM_000096.4(CP):c.1012T>A (p.Cys338Ser) rs769313989
NM_000096.4(CP):c.1049C>A (p.Ala350Asp) rs386134127
NM_000096.4(CP):c.1123T>C (p.Tyr375His) rs386134128
NM_000096.4(CP):c.1208+1G>A rs1553762556
NM_000096.4(CP):c.1209-2A>G rs386134137
NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer) rs386134144
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) rs386134145
NM_000096.4(CP):c.146+1G>A rs386134134
NM_000096.4(CP):c.1503_1504TG[3] (p.Pro503fs) rs1553761391
NM_000096.4(CP):c.1613del (p.Met538fs)
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458
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.1918del (p.Asp640fs) rs386134146
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158
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.2185del (p.Leu729fs) rs587777922
NM_000096.4(CP):c.2253G>A (p.Trp751Ter) rs1559940237
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433
NM_000096.4(CP):c.2389del (p.Glu797fs) rs386134149
NM_000096.4(CP):c.2482del (p.Ala828fs) rs386134150
NM_000096.4(CP):c.2498C>G (p.Ser833Ter)
NM_000096.4(CP):c.2511dup (p.Gly838fs) rs386134151
NM_000096.4(CP):c.2554+1G>T rs386134140
NM_000096.4(CP):c.2603del (p.Gly868fs) rs386134152
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) rs121909579
NM_000096.4(CP):c.2675G>A (p.Gly892Glu) rs386134131
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.2701C>T (p.Arg901Ter) rs386134156
NM_000096.4(CP):c.2702dup (p.Arg902fs) rs1559935542
NM_000096.4(CP):c.2879-1G>A 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>G (p.His997Gln) rs34394958
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.395-1G>A rs386134135
NM_000096.4(CP):c.493C>G (p.Gln165Glu) rs386134122
NM_000096.4(CP):c.548T>C (p.Ile183Thr) rs386134123
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.82A>T (p.Ile28Phe) rs386134121
NM_000096.4(CP):c.848G>C (p.Trp283Ser) rs386134126
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.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.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_000135.3(FANCA):c.(?_-1)_522+?del
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764
NM_000135.4(FANCA):c.1028_1029AG[3] (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)
NM_000135.4(FANCA):c.1226-2A>G rs773906241
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.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.1472_1566+1del rs1567628967
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223
NM_000135.4(FANCA):c.1606del (p.Ser536fs) rs587776570
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1630dup (p.His544fs)
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.1809dup (p.Ile604fs) rs1343140664
NM_000135.4(FANCA):c.1812_1813AG[1] (p.Glu605fs) rs759899153
NM_000135.4(FANCA):c.1824dup (p.Arg609fs)
NM_000135.4(FANCA):c.1827-1G>A rs555449842
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro) rs1567621042
NM_000135.4(FANCA):c.1981A>T (p.Arg661Ter) rs1060501878
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2151+1G>A rs1555548428
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)
NM_000135.4(FANCA):c.2317-2A>G rs1567618264
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
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.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2587_2588dup (p.Leu864fs) rs1567616135
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)
NM_000135.4(FANCA):c.2601+1G>T rs1188581065
NM_000135.4(FANCA):c.2602-2A>T rs1555545592
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.2722_2723CT[4] (p.Trp911fs) rs878853663
NM_000135.4(FANCA):c.2735_2736CA[2] (p.His913fs)
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.2778+1G>A
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.283+3A>C rs786204204
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.294_295delinsTT (p.Leu98_Gln99delinsPheTer)
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter) rs1057516430
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3085G>T (p.Glu1029Ter) rs1555538740
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.3239+1dup
NM_000135.4(FANCA):c.3241_3626+1del
NM_000135.4(FANCA):c.3316G>T (p.Glu1106Ter) rs777825824
NM_000135.4(FANCA):c.3348+1G>A rs751266148
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
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.3517_3519TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3521G>A (p.Trp1174Ter)
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3755_3756AG[3] (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390
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.4261-2A>C rs915983602
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter) rs539460201
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter) rs121907930
NM_000135.4(FANCA):c.548G>A (p.Trp183Ter)
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter) rs758528624
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.709+5G>A rs759877008
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter)
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796
NM_000135.4(FANCA):c.912_913AC[2] (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.983_986TCAC[1] (p.His330fs) rs772359099
NM_000136.2(FANCC):c.-78-?_250+?del
NM_000136.2(FANCC):c.997-?_1154+?del
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1257del (p.Thr420fs)
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709
NM_000136.3(FANCC):c.1312_1329+68dup rs1554829415
NM_000136.3(FANCC):c.1385_1386TC[1] (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs) rs1564641485
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)
NM_000136.3(FANCC):c.1428_1429CA[1] (p.Thr477fs)
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg) rs121917785
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.165+1G>T rs794726668
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.251-2A>G rs1057517219
NM_000136.3(FANCC):c.29dup (p.Cys10fs) rs878853671
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
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.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.456+4A>T rs104886456
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.507del (p.Phe169fs)
NM_000136.3(FANCC):c.519del (p.Arg173fs) rs1564719070
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.946C>T (p.Gln316Ter) rs776529713
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.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.-9+5G>A rs1555889738
NM_000178.4(GSS):c.373C>T (p.Arg125Cys) rs28936396
NM_000178.4(GSS):c.491G>A (p.Arg164Gln) rs121909307
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000178.4(GSS):c.656A>G (p.Asp219Gly) rs28938472
NM_000178.4(GSS):c.799C>T (p.Arg267Trp) rs121909308
NM_000178.4(GSS):c.847C>T (p.Arg283Cys) rs121909309
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000184.2(HBG2):c.-167C>A rs34809449
NM_000184.2(HBG2):c.-167C>T rs34809449
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.1126C>T (p.Gln376Ter)
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.1606T>C (p.Cys536Arg) rs121913052
NM_000186.3(CFH):c.2397del (p.Glu800fs) rs1131690796
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.3572C>T (p.Ser1191Leu) rs460897
NM_000186.3(CFH):c.3590T>C (p.Val1197Ala) rs460184
NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys) rs121913059
NM_000186.3(CFH):c.380G>T (p.Arg127Leu) rs121913058
NM_000186.3(CFH):c.565G>T (p.Glu189Ter) rs121913054
NM_000186.3(CFH):c.668_670AGA[1] (p.Lys224del) rs796052138
NM_000186.3(CFH):c.710_711del (p.Lys236_Cys237insTer) rs1553273733
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.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.609+5G>A rs1569360139
NM_000194.3(HPRT1):c.610-4_610-2delinsTTT rs672601245
NM_000194.3(HPRT1):c.610C>G (p.His204Asp) rs137852490
NM_000204.4(CFI):c.782G>A (p.Gly261Asp) rs112534524
NM_000229.1(LCAT):c.[349G>A;544C>T]
NM_000229.2(LCAT):c.1034C>T (p.Thr345Met) rs28940888
NM_000229.2(LCAT):c.1197dup (p.Gln400fs) rs794726663
NM_000229.2(LCAT):c.1210A>G (p.Met404Val) rs779114194
NM_000229.2(LCAT):c.321C>A (p.Tyr107Ter) rs121908055
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.698T>C (p.Leu233Pro) rs28942087
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.997G>A (p.Val333Met) rs776035233
NM_000253.3(MTTP):c.1237-1G>A rs1560621444
NM_000253.3(MTTP):c.1304T>A (p.Leu435His) rs1560621495
NM_000253.3(MTTP):c.1619G>A (p.Arg540His) rs199422220
NM_000253.3(MTTP):c.1769G>T (p.Ser590Ile) rs199422222
NM_000253.3(MTTP):c.1783C>T (p.Arg595Ter) rs199422219
NM_000253.3(MTTP):c.215del (p.Pro72fs) rs1560614154
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.2593G>T (p.Gly865Ter) rs146064714
NM_000253.3(MTTP):c.704_705CA[2] (p.His236fs) rs1553926818
NM_000254.2(MTR):c.1228G>C (p.Ala410Pro) rs121913582
NM_000254.2(MTR):c.1753C>T (p.Arg585Ter) rs121913580
NM_000254.2(MTR):c.1992_1993insATCA (p.Glu665fs)
NM_000254.2(MTR):c.2112_2113TC[1] (p.Leu705fs) rs797044444
NM_000254.2(MTR):c.2476del (p.Asp825_Ile826insTer)
NM_000254.2(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.2(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.2(MTR):c.3380dup (p.Ala1128fs) rs797044445
NM_000254.2(MTR):c.3439C>T (p.Arg1147Ter)
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) rs121913578
NM_000254.2(MTR):c.3613G>T (p.Glu1205Ter) rs121913581
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.1628A>C (p.Asp543Ala) rs121918194
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys) rs121918196
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro) rs137852539
NM_000291.4(PGK1):c.140T>A (p.Ile47Asn) rs137852536
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.1151C>T (p.Thr384Met) rs74315362
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.1436G>A (p.Arg479His) rs118204085
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872
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.487C>T (p.Arg163Cys) rs118204083
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584
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.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.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter) rs1555596072
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.1805G>C (p.Arg602Pro) rs121912754
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.2191T>C (p.Ser731Pro) rs863225461
NM_000342.4(SLC4A1):c.2201A>G (p.His734Arg) rs863225462
NM_000342.4(SLC4A1):c.2545_2547GTG[1] (p.Val850del) rs121912752
NM_000342.4(SLC4A1):c.486-2A>G rs1555596757
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.428-2_428-1del
NM_000355.4(TCN2):c.766dup (p.Ser256fs) rs1555895066
NM_000355.4(TCN2):c.927_930del (p.Cys309fs) rs1157135425
NM_000371.3(TTR):c.424G>A (p.Val142Ile) rs76992529
NM_000373.3(UMPS):c.[286A>G;285G>C]
NM_000373.4(UMPS):c.326T>G (p.Val109Gly) rs121917892
NM_000375.2(UROS):c.148_244del (p.Leu50Serfs)
NM_000375.3(UROS):c.-203T>C rs397515348
NM_000375.3(UROS):c.-219C>A rs4385801
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.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.311C>T (p.Ala104Val) rs397515528
NM_000375.3(UROS):c.395-1dup rs796051859
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.673G>A (p.Gly225Ser) rs121908020
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014
NM_000375.3(UROS):c.743C>A (p.Pro248Gln) rs121908021
NM_000384.2(APOB):c.11905del (p.Glu3969Asnfs) rs387906569
NM_000384.3(APOB):c.10633G>T (p.Glu3545Ter) rs759934326
NM_000384.3(APOB):c.11712del (p.Asn3904fs) rs587776852
NM_000384.3(APOB):c.12181del (p.Glu4061fs) rs121918385
NM_000384.3(APOB):c.2786del (p.Pro929fs) rs1553385404
NM_000384.3(APOB):c.3614_3625delinsCTTAGG (p.His1205_Asn1209delinsProTer) rs1553384441
NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) rs121918383
NM_000384.3(APOB):c.4089C>G (p.Tyr1363Ter) rs1553384177
NM_000384.3(APOB):c.4352del (p.Gly1451fs) rs397514256
NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter) rs121918389
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.5463del (p.His1822fs) rs397514255
NM_000384.3(APOB):c.5566_5567del (p.Val1856fs) rs121918384
NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter) rs121918386
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter) rs121918390
NM_000384.3(APOB):c.819-2A>G
NM_000384.3(APOB):c.905-1_905dup rs606231236
NM_000384.3(APOB):c.9200del (p.Lys3067fs) rs121918387
NM_000398.6(CYB5R3):c.464_547del rs794728013
NM_000398.7(CYB5R3):c.229C>T (p.Gln77Ter) rs121965014
NM_000398.7(CYB5R3):c.382T>C (p.Ser128Pro) rs121965006
NM_000398.7(CYB5R3):c.463+8G>C rs200872504
NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter) rs61732609
NM_000398.7(CYB5R3):c.610T>C (p.Cys204Arg) rs121965011
NM_000398.7(CYB5R3):c.655C>T (p.Arg219Ter) rs121965010
NM_000398.7(CYB5R3):c.734-1G>T rs794728011
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404
NM_000398.7(CYB5R3):c.817_819del (p.Met273del) rs794728012
NM_000398.7(CYB5R3):c.895_897del (p.Phe299del) rs121965012
NM_000476.2(AK1):c.118G>A (p.Gly40Arg) rs137853204
NM_000476.2(AK1):c.139del (p.Val47fs) rs387906583
NM_000476.2(AK1):c.190G>A (p.Gly64Arg) rs137853205
NM_000476.2(AK1):c.319C>T (p.Arg107Ter) rs104894102
NM_000476.2(AK1):c.382C>T (p.Arg128Trp) rs104894101
NM_000476.2(AK1):c.418_420GAC[1] (p.Asp141del) rs387906582
NM_000476.2(AK1):c.491A>G (p.Tyr164Cys) rs137853203
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.5(ATRX):c.20+1G>A rs587776756
NM_000489.5(ATRX):c.236C>G (p.Ser79Ter) rs122445107
NM_000489.5(ATRX):c.4317G>A (p.Lys1439=) rs1569535642
NM_000489.5(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.5(ATRX):c.4840T>C (p.Cys1614Arg) rs122445094
NM_000489.5(ATRX):c.4862C>T (p.Thr1621Met) rs122445106
NM_000489.5(ATRX):c.4865C>T (p.Ala1622Val) rs1135401793
NM_000489.5(ATRX):c.4950G>T (p.Lys1650Asn) rs122445095
NM_000489.5(ATRX):c.5039T>C (p.Ile1680Thr) rs1557106482
NM_000489.5(ATRX):c.5225G>A (p.Arg1742Lys) rs122445104
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.5(ATRX):c.6104A>T (p.Asp2035Val) rs122445096
NM_000489.5(ATRX):c.6122G>A (p.Ser2041Asn) rs1060499658
NM_000489.5(ATRX):c.6250T>C (p.Tyr2084His) rs122445097
NM_000489.5(ATRX):c.6392G>A (p.Arg2131Gln) rs122445101
NM_000489.5(ATRX):c.6488A>G (p.Tyr2163Cys) rs122445098
NM_000489.5(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.5(ATRX):c.7162G>T (p.Glu2388Ter) rs122445100
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.5(ATRX):c.751A>G (p.Lys251Glu) rs1569539477
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951
NM_000517.4(HBA2):c.95+2_95+6delTGAGG rs41474145
NM_000517.4:c.[-2_-3delAC;-alpha3.7]
NM_000517.4:c.[339C>G;340_351delCTCCCCGCCGAG]
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.207C>G (p.Asn69Lys) rs111033601
NM_000517.6(HBA2):c.2T>C (p.Met1Thr) rs111033603
NM_000517.6(HBA2):c.349G>T (p.Glu117Ter) rs33987053
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.410T>C (p.Leu137Pro) rs41469945
NM_000517.6(HBA2):c.70G>T (p.Glu24Ter) rs281864819
NM_000517.6(HBA2):c.92_93AG[1] (p.Arg32fs) rs1057519637
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.127T>G (p.Phe43Val) rs33924146
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.203T>A (p.Val68Glu) rs33918343
NM_000518.4(HBB):c.277C>T (p.His93Tyr) rs33924775
NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) rs35699606
NM_000518.4(HBB):c.287dupA (p.Leu97Alafs) rs34937014
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.86T>A (p.Leu29Gln) rs33916412
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.4:c.91+6T>C
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.*111A>G rs63751128
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.*6C>G rs34809925
NM_000518.5(HBB):c.-136C>G rs33994806
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-137C>T rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-138C>T rs33944208
NM_000518.5(HBB):c.-140C>T rs34999973
NM_000518.5(HBB):c.-142C>T rs34883338
NM_000518.5(HBB):c.-151C>T rs63751208
NM_000518.5(HBB):c.-18C>G rs34135787
NM_000518.5(HBB):c.-29G>A rs34704828
NM_000518.5(HBB):c.-41del rs35352549
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.-78A>G rs33931746
NM_000518.5(HBB):c.-79A>G rs34598529
NM_000518.5(HBB):c.-80T>A rs33980857
NM_000518.5(HBB):c.-81A>G rs33981098
NM_000518.5(HBB):c.0_92+25del rs1564875707
NM_000518.5(HBB):c.110del (p.Pro37fs) rs267607297
NM_000518.5(HBB):c.117_118del (p.Gln40fs) rs267607291
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.127T>C (p.Phe43Leu) rs33924146
NM_000518.5(HBB):c.127_129del (p.Phe43del) rs41417446
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) rs34378160
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.143dup (p.Asp48fs) rs35894115
NM_000518.5(HBB):c.164_168delinsGGCATCA (p.Val55fs) rs1564875331
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.251del (p.Gly84fs) rs193922555
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102
NM_000518.5(HBB):c.295G>A (p.Val99Met) rs33933298
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.2T>G (p.Met1Arg) rs33941849
NM_000518.5(HBB):c.315+1G>A rs33945777
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-146T>G rs35328027
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-1G>A rs33952266
NM_000518.5(HBB):c.316-238C>T rs558554234
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.323dup (p.Asn109fs) rs35225141
NM_000518.5(HBB):c.337T>C (p.Cys113Arg) rs35849199
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.371_378del (p.Thr124fs) rs1554917561
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.385_388delinsCCACA (p.Ala129fs) rs63750860
NM_000518.5(HBB):c.46del (p.Trp16fs) rs63749960
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) rs33950507
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040
NM_000518.5(HBB):c.90C>T (p.Gly30=) rs35578002
NM_000518.5(HBB):c.92+1G>A rs33971440
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+2T>A rs33956879
NM_000518.5(HBB):c.92+2T>C rs33956879
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92+5G>C rs33915217
NM_000518.5(HBB):c.92+5G>T rs33915217
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_000518.5(HBB):c.93-1G>A rs33943001
NM_000518.5(HBB):c.93-21G>A rs35004220
NM_000518.5(HBB):c.93-21_96del rs63750223
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000518.5(HBB):c.93-3T>G rs34527846
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071
NM_000518.5(HBB):c.93_94insCGG (p.Arg31_Leu32insArg) rs35348864
NM_000546.5(TP53):c.1077del (p.Ser362fs) rs1555524370
NM_000546.5(TP53):c.1083del (p.Ser362fs) rs1555524354
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000558.5(HBA1):c.207C>A (p.Asn69Lys) rs1060339
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000558.5(HBA1):c.410T>G (p.Leu137Arg) rs34635364
NM_000558.5(HBA1):c.43T>Y (p.Trp15Xaa) rs33964317
NM_000559.2(HBG1):c.-167C>T rs281860601
NM_000559.2(HBG1):c.-170G>A rs35378915
NM_000559.2(HBG1):c.-53-195C>G rs35321913
NM_000559.2(HBG1):c.-53-196C>T rs35983258
NM_000559.2(HBG1):c.-53-198T>C rs35710727
NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp) rs121918365
NM_000617.3(SLC11A2):c.1246C>T (p.Arg416Cys) rs121918366
NM_000617.3(SLC11A2):c.635G>T (p.Gly212Val) rs121918367
NM_000791.4(DHFR):c.238C>T (p.Leu80Phe) rs387906619
NM_000791.4(DHFR):c.458A>T (p.Asp153Val) rs121913223
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter) rs1060503527
NM_000969.5(RPL5):c.157_169dup (p.Asn57fs)
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_000969.5(RPL5):c.173_174GA[1] (p.Asp59fs)
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter) rs1558284062
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.256dup (p.Tyr86fs) rs1553121909
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter)
NM_000969.5(RPL5):c.664C>T (p.Gln222Ter) rs587777118
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) rs121434405
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter) rs1558283853
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_000975.5(RPL11):c.111del (p.Lys38fs) rs1553121684
NM_000975.5(RPL11):c.204del (p.Ile68fs) rs587777120
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.43_49del (p.Leu15fs) rs1553121678
NM_000975.5(RPL11):c.476_477del (p.Lys159fs) rs587777119
NM_000975.5(RPL11):c.508-2A>G
NM_000975.5(RPL11):c.62_63del (p.Cys21fs)
NM_000987.5(RPL26):c.120_121del (p.Lys41fs) rs397518451
NM_000988.5(RPL27):c.-2-1G>A rs1085307119
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs) rs1560120302
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter) rs1553811551
NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter) rs116840809
NM_000996.4(RPL35A):c.79_81CTT[1] (p.Leu28del) rs116840807
NM_000996.4(RPL35A):c.97G>A (p.Val33Ile) rs116840808
NM_001010986.3(ATP11C):c.1253C>A (p.Thr418Asn) rs1556323334
NM_001011.4(RPS7):c.147+1G>A rs397507554
NM_001011.4(RPS7):c.76-1G>T rs1057519624
NM_001012339.3(DNAJC21):c.544C>T (p.Arg182Ter)
NM_001014.5(RPS10):c.285_292del (p.Arg96fs)
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) rs267607022
NM_001014.5(RPS10):c.3G>A (p.Met1Ile) rs267607021
NM_001018113.3(FANCB):c.1496+5G>A rs1569085810
NM_001018113.3(FANCB):c.1855_1856AG[1] (p.Arg619fs) rs1569083464
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter) rs1569083185
NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter) rs6991
NM_001021.6(RPS17):c.199_200AG[1] (p.Gly68fs) rs116840812
NM_001021.6(RPS17):c.2T>G (p.Met1Arg) rs116840811
NM_001022.3(RPS19):c.[43G>T;164C>T]
NM_001022.4(RPS19):c.173-2A>G
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
NM_001022.4(RPS19):c.250A>T (p.Arg84Ter) rs121908649
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) rs61762293
NM_001022.4(RPS19):c.294_295TG[3] (p.Ala100fs) rs1555841356
NM_001022.4(RPS19):c.307del (p.Val103fs) rs786200935
NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer) rs1568796003
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu) rs786200936
NM_001022.4(RPS19):c.384_385del (p.Asp130fs) rs869066130
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) rs104894716
NM_001024858.3(SPTB):c.5794_5798+6delCCCAGGTGAGG rs1555367318
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.1A>T (p.Met1Leu) rs143951267
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.3+1G>A rs148622862
NM_001029.5(RPS26):c.31dup (p.Ala11fs) rs786200892
NM_001029.5(RPS26):c.4-2A>T rs786203998
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) rs797045919
NM_001029.5(RPS26):c.97G>A (p.Asp33Asn) rs267607023
NM_001030.6(RPS27):c.90del (p.Tyr31fs) rs1085307115
NM_001031.5(RPS28):c.1A>G (p.Met1Val) rs786203997
NM_001032.4(RPS29):c.149T>C (p.Ile50Thr) rs587777569
NM_001032.4(RPS29):c.91A>T (p.Ile31Phe) rs587777568
NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter) rs587777214
NM_001040436.3(YARS2):c.1303A>G (p.Ser435Gly) rs587777215
NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp) rs587777213
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001040436.3(YARS2):c.359dup (p.Asp121fs) rs797045077
NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp) rs11539445
NM_001063.4(TF):c.1180G>A (p.Glu394Lys) rs121918680
NM_001063.4(TF):c.1429G>C (p.Ala477Pro) rs121918679
NM_001063.4(TF):c.229G>A (p.Asp77Asn) rs121918681
NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter)
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter) rs1564435943
NM_001081.3(CUBN):c.5600del (p.Phe1867fs) rs747417629
NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter)
NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001083116.3(PRF1):c.1163G>T (p.Ser388Ile) rs193302875
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374
NM_001099274.3(TINF2):c.1010del (p.Gly337fs) rs756029660
NM_001099274.3(TINF2):c.1090dup (p.Leu364fs) rs1566366182
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869
NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu) rs121918543
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322
NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser) rs121918545
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001099274.3(TINF2):c.845G>A (p.Arg282His) rs121918544
NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser) rs199422311
NM_001099274.3(TINF2):c.849dup (p.Thr284fs) rs199422315
NM_001099274.3(TINF2):c.892del (p.Gln298fs) rs199422320
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741
NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873
NM_001113378.1(FANCI):c.2422A>T (p.Lys808Ter) rs375656231
NM_001113378.1(FANCI):c.2995_2999TCCTC[1] (p.Pro1001fs)
NM_001113378.1(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.1(FANCI):c.3624_3625GT[1] (p.Cys1209fs) rs770318990
NM_001113378.1(FANCI):c.3662del (p.Lys1221fs) rs1567179036
NM_001113378.1(FANCI):c.3669_3672dup (p.Tyr1225fs)
NM_001113378.1(FANCI):c.3780T>A (p.Tyr1260Ter) rs1060501900
NM_001113378.1(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164
NM_001113378.1(FANCI):c.3854G>A (p.Arg1285Gln) rs121918163
NM_001113378.1(FANCI):c.507G>A (p.Trp169Ter) rs878854181
NM_001130010.3(C15orf41):c.281A>G (p.Tyr94Cys) rs587777101
NM_001130010.3(C15orf41):c.533T>A (p.Leu178Gln) rs587777100
NM_001142446.2(ANK1):c.1618dup (p.Leu540fs) rs397514029
NM_001142446.2(ANK1):c.1801-2A>C rs1554567249
NM_001142446.2(ANK1):c.1900-17G>A rs786205243
NM_001142446.2(ANK1):c.4585C>T (p.Arg1529Ter) rs777701149
NM_001142446.2(ANK1):c.5128G>T (p.Glu1710Ter) rs137852829
NM_001142446.2(ANK1):c.5275C>T (p.Gln1759Ter) rs1554522035
NM_001142446.2(ANK1):c.5286G>A (p.Trp1762Ter) rs137852830
NM_001142446.2(ANK1):c.5620C>T (p.Arg1874Ter) rs137852831
NM_001142446.2(ANK1):c.633del (p.His211fs) rs1554578304
NM_001142864.2(PIEZO1):[c.3350C>T;c.6059C>T]
NM_001142864.2(PIEZO1):c.[1848+31C>G;2344G>A;2423G>A]
NM_001142864.4(PIEZO1):c.4073G>C (p.Arg1358Pro) rs587776990
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr) rs587776989
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991
NM_001142864.4(PIEZO1):c.6674T>G (p.Met2225Arg) rs587776987
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) rs587776988
NM_001142864.4(PIEZO1):c.7477_7482CTGGAG[3] (p.2493_2494LE[3]) rs587776992
NM_001159287.1(TPI1):c.143dup (p.Asn49fs) rs587777441
NM_001159287.1(TPI1):c.426G>C (p.Glu142Asp) rs121964845
NM_001159287.1(TPI1):c.547G>T (p.Glu183Ter) rs121964850
NM_001159287.1(TPI1):c.622A>G (p.Ile208Val) rs121964849
NM_001159287.1(TPI1):c.680G>A (p.Arg227Gln) rs1565538350
NM_001159287.1(TPI1):c.832T>C (p.Phe278Leu) rs121964847
NM_001159287.1(TPI1):c.833T>C (p.Phe278Ser) rs587777440
NM_001253383.3(RPL15):c.309+91_0del
NM_001258026.1(TPI1):c.-122G>A rs121964848
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) rs72554634
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp) rs515726147
NM_001283009.1(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037
NM_001304463.1(SLC29A1):c.1285A>C (p.Thr429Pro) rs1131690802
NM_001355436.2(SPTB):c.1331_1338del (p.Leu444fs) rs1555370967
NM_001355436.2(SPTB):c.1912del (p.Arg638fs) rs863223304
NM_001355436.2(SPTB):c.1A>G (p.Met1Val) rs121918651
NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter) rs1555369657
NM_001355436.2(SPTB):c.4063G>T (p.Glu1355Ter) rs1566754467
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter) rs267607086
NM_001355436.2(SPTB):c.5623C>T (p.Gln1875Ter) rs1555367359
NM_001355436.2(SPTB):c.604T>C (p.Trp202Arg) rs121918646
NM_001355436.2(SPTB):c.6053C>G (p.Ala2018Gly) rs121918647
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro) rs121918648
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg) rs121918649
NM_001355436.2(SPTB):c.6095T>C (p.Leu2032Pro) rs1555366607
NM_001355436.2(SPTB):c.6133_6134GA[3] (p.Lys2046fs) rs863223303
NM_001355436.2(SPTB):c.6157G>C (p.Ala2053Pro) rs121918645
NM_001355436.2(SPTB):c.6191G>C (p.Arg2064Pro) rs121918650
NM_001355436.2(SPTB):c.6269+3G>T rs863223302
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr) rs121912300
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile) rs121912298
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala) rs137854492
NM_001363.5(DKC1):c.106T>G (p.Phe36Val) rs121912293
NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn) rs199422249
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) rs1057520719
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.1150C>T (p.Pro384Ser) rs199422250
NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu) rs199422251
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) rs199422252
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu) rs121912296
NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro) rs199422253
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) rs121912292
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg) rs121912299
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) rs121912295
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys) rs121912302
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile) rs199422254
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu) rs121912289
NM_001363.5(DKC1):c.1259+1G>A rs1569558616
NM_001363.5(DKC1):c.127A>G (p.Lys43Glu) rs199422243
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr) rs121912301
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) rs121912297
NM_001363.5(DKC1):c.200C>T (p.Thr67Ile) rs199422244
NM_001363.5(DKC1):c.203A>G (p.His68Arg) rs1557264102
NM_001363.5(DKC1):c.204C>A (p.His68Gln) rs199422245
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr) rs121912294
NM_001363.5(DKC1):c.29C>T (p.Pro10Leu) rs199422242
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.472C>T (p.Arg158Trp) rs199422246
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772
NM_001363.5(DKC1):c.911G>A (p.Ser304Asn) rs199422247
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys) rs137854491
NM_001363.5(DKC1):c.91C>G (p.Gln31Glu) rs137854491
NM_001363.5(DKC1):c.941A>G (p.Lys314Arg) rs199422248
NM_001363.5(DKC1):c.949C>G (p.Leu317Val) rs121912290
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe) rs121912290
NM_001363.5(DKC1):c.961C>G (p.Leu321Val) rs2728726
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln) rs121912291
NM_001498.4(GCLC):c.1109A>T (p.His370Leu) rs121907946
NM_001701.4(BAAT):c.858C>G (p.Ser286=) rs80356746
NM_001701.4(BAAT):c.967A>G (p.Ile323Val) rs80356747
NM_001724.5(BPGM):c.61del (p.Arg21fs) rs786205092
NM_002049.3(GATA1):c.1240T>C (p.Ter414Arg) rs587776456
NM_002049.3(GATA1):c.166_187dup (p.Tyr63fs)
NM_002049.3(GATA1):c.21del (p.Ser8fs) rs1557020001
NM_002049.3(GATA1):c.220+1del rs587776453
NM_002049.3(GATA1):c.220G>C (p.Val74Leu) rs587776452
NM_002049.3(GATA1):c.2T>C (p.Met1Thr) rs587776451
NM_002049.3(GATA1):c.5_8dup (p.Phe3fs)
NM_002049.3(GATA1):c.613G>A (p.Val205Met) rs104894815
NM_002049.3(GATA1):c.622G>C (p.Gly208Arg) rs587776454
NM_002049.3(GATA1):c.622_623delGGinsTC (p.Gly208Ser) rs137852312
NM_002049.3(GATA1):c.646C>T (p.Arg216Trp) rs387907207
NM_002049.3(GATA1):c.647G>A (p.Arg216Gln) rs104894809
NM_002049.3(GATA1):c.652G>T (p.Asp218Tyr) rs104894808
NM_002049.3(GATA1):c.653A>G (p.Asp218Gly) rs104894816
NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002049.3(GATA1):c.94dup (p.Val32fs) rs1569499310
NM_002049.3(GATA1):c.994G>T (p.Gly332Cys) rs587776455
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His) rs774455945
NM_002250.3(KCNN4):c.844G>A (p.Val282Met) rs1057519076
NM_002250.3(KCNN4):c.845T>A (p.Val282Glu) rs1057519077
NM_002389.4(CD46):c.404del (p.Gly135fs)
NM_002389.4(CD46):c.542_543del (p.Val180_Phe181insTer) rs1057516191
NM_002389.4(CD46):c.776del (p.Gly259fs) rs886039868
NM_002454.2(MTRR):c.1678_1681delGAGA (p.Glu560Asnfs) rs768980918
NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs)
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062
NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter) rs1554006017
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.270del (p.Tyr91fs)
NM_002454.3(MTRR):c.903+469T>C
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) rs587782545
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002582.3(PARN):c.962+295_1263-8706del
NM_002582.3(PARN):c.[659+4_659+7delAGTA(;)863dupA]
NM_002582.4(PARN):c.1045C>T (p.Arg349Trp) rs754368658
NM_002582.4(PARN):c.1148C>T (p.Ala383Val) rs786200999
NM_002582.4(PARN):c.1257dup (p.Asn420Ter) rs942538351
NM_002582.4(PARN):c.24del (p.Phe8fs) rs1555512179
NM_002582.4(PARN):c.563dup (p.Glu189fs) rs878853260
NM_002582.4(PARN):c.659+4_659+7del rs759131762
NM_002582.4(PARN):c.863dup (p.Asn288fs) rs786201001
NM_002582.4(PARN):c.918+1G>T rs756132866
NM_002641.3(PIGA):c.1115del (p.Pro372fs) rs587776725
NM_002641.3(PIGA):c.1188+2del rs587776723
NM_002641.3(PIGA):c.1323_1324del (p.Leu442fs) rs587776728
NM_002641.3(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer) rs786200912
NM_002641.3(PIGA):c.163C>T (p.Gln55Ter) rs199422233
NM_002641.3(PIGA):c.249_250insGT (p.Thr84fs) rs587776726
NM_002641.3(PIGA):c.294C>A (p.Tyr98Ter) rs199422232
NM_002641.3(PIGA):c.431del (p.Thr144fs) rs587776727
NM_002641.3(PIGA):c.459_460insA (p.His154fs) rs587776724
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_003126.2(SPTA1):c.5190_5310del rs754614154
NM_003126.4(SPTA1):c.121C>T (p.Arg41Trp) rs121918640
NM_003126.4(SPTA1):c.135G>T (p.Arg45Ser) rs121918637
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val) rs121918638
NM_003126.4(SPTA1):c.1412A>C (p.Gln471Pro) rs121918635
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) rs121918639
NM_003126.4(SPTA1):c.1850dup (p.Ser618fs) rs1553234309
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956
NM_003126.4(SPTA1):c.2465-1G>A rs863223305
NM_003126.4(SPTA1):c.3291G>A (p.Trp1097Ter) rs1553231217
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) rs121918636
NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser) rs121918642
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) rs121918642
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) rs121918641
NM_003136.4(SRP54):c.343A>G (p.Thr115Ala) rs1555354200
NM_003136.4(SRP54):c.343_345ACA[2] (p.Thr117del) rs1555354198
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu) rs1555354750
NM_003647.3(DGKE):c.1009C>T (p.Arg337Ter) rs762576212
NM_003647.3(DGKE):c.127C>T (p.Gln43Ter) rs398123008
NM_003647.3(DGKE):c.1376G>A (p.Trp459Ter) rs1060499708
NM_003647.3(DGKE):c.301A>T (p.Lys101Ter) rs777787526
NM_003647.3(DGKE):c.610del (p.Thr204fs) rs147972030
NM_003647.3(DGKE):c.610dup (p.Thr204fs)
NM_003647.3(DGKE):c.888+40A>G rs1555599211
NM_003647.3(DGKE):c.889-2A>G rs879255231
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661
NM_004134.7(HSPA9):c.1373_1378del (p.Ile458_Asn459del) rs869312659
NM_004134.7(HSPA9):c.409_410del (p.Asp136_Ile137insTer) rs763817505
NM_004299.6(ABCB7):c.1234G>C (p.Val412Leu) rs80356713
NM_004299.6(ABCB7):c.1300G>A (p.Glu434Lys) rs80356714
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004437.3(EPB41):c.1219_1458del
NM_004437.3(EPB41):c.1219_1587del
NM_004629.1(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.1(FANCG):c.1077-2A>G rs769547477
NM_004629.1(FANCG):c.1158del (p.Ser387fs) rs757418016
NM_004629.1(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.1(FANCG):c.1183_1192del (p.Glu395fs) rs397507559
NM_004629.1(FANCG):c.1216del (p.Gln406fs)
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004629.1(FANCG):c.156dup (p.Leu53fs) rs863224506
NM_004629.1(FANCG):c.1573del (p.Trp524_Val525insTer)
NM_004629.1(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.1(FANCG):c.1642C>T (p.Arg548Ter)
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.1(FANCG):c.307+1G>C rs200479612
NM_004629.1(FANCG):c.313G>T (p.Glu105Ter) rs121434425
NM_004629.1(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004629.1(FANCG):c.652C>T (p.Gln218Ter) rs1209807088
NM_004629.1(FANCG):c.85-2A>T
NM_004629.1(FANCG):c.925-2A>G rs397507561
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
NM_005050.4(ABCD4):c.1746_1747insCT (p.Glu583fs) rs387907315
NM_005050.4(ABCD4):c.542+1G>T rs769364566
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) rs121434322
NM_005142.3(CBLIF):c.183_186del (p.Met61fs) rs765896727
NM_005142.3(CBLIF):c.79+1G>A rs147785187
NM_005236.2(ERCC4):c.1484_1488del (p.Thr495fs) rs397509400
NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.2(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.2(ERCC4):c.2371_2398dup (p.Ile800fs) rs397509401
NM_005236.2(ERCC4):c.689T>C (p.Leu230Pro) rs397509402
NM_005332.2(HBZ):c.330_*22601del
NM_005334.3(HCFC1):c.-970T>C rs398122908
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) rs397515487
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) rs869312686
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_005373.2(MPL):c.1069C>T (p.Arg357Ter)
NM_005373.2(MPL):c.1194G>A (p.Trp398Ter)
NM_005373.2(MPL):c.127C>T (p.Arg43Ter) rs148434485
NM_005373.2(MPL):c.1462G>T (p.Glu488Ter)
NM_005373.2(MPL):c.1473G>A (p.Trp491Ter) rs121913613
NM_005373.2(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) rs121913615
NM_005373.2(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.2(MPL):c.235_236del (p.Leu79fs) rs587778514
NM_005373.2(MPL):c.304C>T (p.Arg102Cys)
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_005373.2(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.2(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.2(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.2(MPL):c.556C>T (p.Gln186Ter) rs121913610
NM_005373.2(MPL):c.769C>T (p.Arg257Cys) rs121913611
NM_005373.2(MPL):c.79+2T>A rs146249964
NM_005373.2(MPL):c.823C>A (p.Pro275Thr) rs28928908
NM_005373.2(MPL):c.972del (p.Arg325fs) rs770457041
NM_005475.2(SH2B3):c.603_607del (p.Arg202fs) rs587776885
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp) rs764893806
NM_005689.4(ABCB6):c.1124G>A (p.Arg375Gln) rs754667801
NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln) rs148211042
NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu) rs1057517674
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter) rs1568617456
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp) rs121918223
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222
NM_006363.6(SEC23B):c.576_583delinsA (p.Thr192_Lys193insTer) rs1555788144
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter) rs121918226
NM_006363.6(SEC23B):c.689+1G>A rs398124226
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter) rs121918224
NM_006363.6(SEC23B):c.816del (p.Ile272fs) rs1568606490
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter) rs121918225
NM_006516.3(SLC2A1):c.1303_1305ATC[1] (p.Ile436del) rs864309522
NM_006516.3(SLC2A1):c.161dup (p.Ser55fs) rs1557646867
NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.3(SLC2A1):c.857G>A (p.Gly286Asp) rs864309514
NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006563.4(KLF1):c.1012C>T (p.Pro338Ser) rs387907599
NM_006563.4(KLF1):c.892G>C (p.Ala298Pro) rs387907598
NM_006563.4(KLF1):c.973G>A (p.Glu325Lys) rs267607201
NM_006947.4(SRP72):c.1060_1061CA[2] (p.Thr355fs) rs587776907
NM_006947.4(SRP72):c.620G>A (p.Arg207His) rs387907189
NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter) rs74315375
NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter) rs1553211899
NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu) rs121908540
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe) rs761957186
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter) rs74315373
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595
NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs) rs763099442
NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs) rs1557894839
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter) rs74315374
NM_007055.3(POLR3A):c.-6128_-995del
NM_007294.3(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.3(BRCA1):c.1115G>A (p.Trp372Ter) rs397508838
NM_007294.3(BRCA1):c.117T>A (p.Cys39Ter) rs886040898
NM_007294.3(BRCA1):c.1292T>G (p.Leu431Ter) rs80357346
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898
NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007294.3(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.3(BRCA1):c.241C>T (p.Gln81Ter) rs80357350
NM_007294.3(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.3(BRCA1):c.2709T>A (p.Cys903Ter) rs1555589094
NM_007294.3(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.3(BRCA1):c.3097G>T (p.Glu1033Ter) rs273899698
NM_007294.3(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.3(BRCA1):c.3893C>A (p.Ser1298Ter) rs80357440
NM_007294.3(BRCA1):c.3G>T (p.Met1Ile) rs80357475
NM_007294.3(BRCA1):c.4054G>T (p.Glu1352Ter) rs80357202
NM_007294.3(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.3(BRCA1):c.4485-1G>A rs80358189
NM_007294.3(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123
NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962
NM_007294.3(BRCA1):c.594_597delTGTG rs797045175
NM_007294.3(BRCA1):c.925A>T (p.Lys309Ter) rs879255498
NM_012461.3(TINF2):c.805C>T (p.Gln269Ter) rs387907153
NM_012461.3(TINF2):c.811C>T (p.Gln271Ter) rs387907154
NM_012461.3(TINF2):c.826del (p.Arg276fs) rs863223324
NM_012461.3(TINF2):c.838A>T (p.Lys280Ter) rs121918543
NM_012461.3(TINF2):c.847C>G (p.Pro283Ala) rs199422311
NM_012461.3(TINF2):c.848C>A (p.Pro283His) rs199422313
NM_012461.3(TINF2):c.850A>G (p.Thr284Ala) rs199422314
NM_012461.3(TINF2):c.860T>C (p.Leu287Pro) rs199422316
NM_012461.3(TINF2):c.862T>C (p.Phe288Leu) rs199422317
NM_012461.3(TINF2):c.865_866delinsAG (p.Pro289Ser) rs199422318
NM_012461.3(TINF2):c.871A>G (p.Arg291Gly) rs199422319
NM_014009.3(FOXP3):c.1190G>A (p.Arg397Gln) rs1057520529
NM_014176.4(UBE2T):c.179+5G>A rs796052212
NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu) rs774357609
NM_014646.2(LPIN2):c.1312_1313CT[2] (p.Ser439fs) rs318240736
NM_014646.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807
NM_014646.2(LPIN2):c.2327+1G>C rs80338808
NM_014646.2(LPIN2):c.469C>T (p.Arg157Ter) rs916009547
NM_014646.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) rs80338806
NM_014646.2(LPIN2):c.589C>T (p.Arg197Ter)
NM_015365.3(AMMECR1):c.429T>A (p.Tyr143Ter) rs765498367
NM_015365.3(AMMECR1):c.502C>T (p.Arg168Ter) rs1057519338
NM_015365.3(AMMECR1):c.530G>A (p.Gly177Asp) rs1057519337
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.2(MMACHC):c.482G>A rs121918243
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter) rs1553162786
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter) rs528744719
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.364dup (p.His122fs) rs1557607997
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789
NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu) rs606231425
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.545_546GT[1] (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787
NM_015506.3(MMACHC):c.81G>A (p.Gln27=) rs1553162317
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015702.3(MMADHC):c.133dup (p.Ala45fs) rs864309740
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter) rs118204047
NM_015702.3(MMADHC):c.228dup (p.Asn77fs) rs864309741
NM_015702.3(MMADHC):c.22_23AG[1] (p.Arg8fs) rs1553454436
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs)
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup) rs397509362
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363
NM_015702.3(MMADHC):c.455dup (p.Cys153fs) rs864309743
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer) rs397509361
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs) rs864309742
NM_015702.3(MMADHC):c.696+3_696+6del rs397509364
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_016038.2(SBDS):c.183_184delTAinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) rs28942099
NM_016038.4(SBDS):c.258+1G>C rs113993992
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016038.4(SBDS):c.293_296AAGA[1] (p.Glu99fs) rs113993994
NM_016038.4(SBDS):c.377G>C (p.Arg126Thr) rs113993995
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) rs113993996
NM_016038.4(SBDS):c.624+1G>C rs113993997
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter) rs113993998
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr) rs373730800
NM_016417.3(GLRX5):c.294A>G (p.Gln98=) rs121908584
NM_016417.3(GLRX5):c.301A>C (p.Lys101Gln) rs869312752
NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser) rs765487627
NM_016434.3(RTEL1):c.1001_1014del (p.Leu334fs)
NM_016434.3(RTEL1):c.102+2T>C rs1555899111
NM_016434.3(RTEL1):c.1135+1G>A rs1555903332
NM_016434.3(RTEL1):c.1476G>T (p.Met492Ile) rs370343781
NM_016434.3(RTEL1):c.1773G>T (p.Glu591Asp) rs398123051
NM_016434.3(RTEL1):c.1861G>A (p.Ala621Thr) rs398123052
NM_016434.3(RTEL1):c.2097C>G (p.Ile699Met) rs398123048
NM_016434.3(RTEL1):c.2141+5G>A rs398123050
NM_016434.3(RTEL1):c.2216G>T (p.Gly739Val) rs398123016
NM_016434.3(RTEL1):c.2233G>A (p.Val745Met) rs398123049
NM_016434.3(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_016434.3(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018
NM_016434.3(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017
NM_016434.3(RTEL1):c.3370del (p.His1124fs) rs1555814400
NM_016434.3(RTEL1):c.535G>T (p.Glu179Ter) rs1555899932
NM_016434.3(RTEL1):c.751G>A (p.Glu251Lys) rs398123019
NM_016489.12(NT5C3A):c.384dupA (p.Ala129Serfs) rs397518437
NM_016489.13(NT5C3A):c.293A>T (p.Asp98Val) rs104894025
NM_016489.13(NT5C3A):c.529C>T (p.Gln177Ter) rs104894026
NM_016489.13(NT5C3A):c.543T>G (p.Tyr181Ter) rs104894027
NM_016489.13(NT5C3A):c.569A>G (p.Asn190Ser) rs104894028
NM_016489.13(NT5C3A):c.577del (p.Asp193fs) rs397518438
NM_016489.13(NT5C3A):c.592-1G>C rs397518435
NM_016489.13(NT5C3A):c.592-1G>T rs397518435
NM_016489.13(NT5C3A):c.721G>C (p.Gly241Arg) rs104894029
NM_016489.13(NT5C3A):c.742_743dup (p.Val249fs) rs397518436
NM_017875.4(SLC25A38):c.277-1G>A rs869312029
NM_017875.4(SLC25A38):c.320_321CT[2] (p.Tyr109fs) rs869320719
NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter) rs121918330
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) rs121918331
NM_017875.4(SLC25A38):c.70-2A>C rs1233124208
NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter) rs121918332
NM_018062.3(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294
NM_018062.3(FANCL):c.1096_1099dup (p.Thr367fs) rs759217526
NM_018062.3(FANCL):c.211C>T (p.Gln71Ter) rs753105795
NM_018062.3(FANCL):c.268del (p.Leu90fs) rs869320684
NM_018062.3(FANCL):c.40dup (p.Leu14fs) rs761039364
NM_018062.3(FANCL):c.426_438del (p.Asp142fs) rs878855046
NM_018062.3(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018062.3(FANCL):c.755_758TCTT[1] (p.Phe253fs) rs1553435610
NM_018062.3(FANCL):c.822-15_822-9delins177
NM_018081.2(WRAP53):c.1118del (p.Leu373fs)
NM_018081.2(WRAP53):c.1126C>T (p.His376Tyr) rs281865549
NM_018081.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548
NM_018081.2(WRAP53):c.1303G>A (p.Gly435Arg) rs281865550
NM_018081.2(WRAP53):c.492C>A (p.Phe164Leu) rs281865547
NM_018124.4(RFWD3):c.1916T>A (p.Ile639Lys) rs1555524842
NM_018124.4(RFWD3):c.204_205dup (p.Leu69fs) rs1205970095
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546
NM_018368.4(LMBRD1):c.404del (p.Thr135fs) rs1562112641
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) rs779151199
NM_018648.3(NOP10):c.100C>T (p.Arg34Trp) rs121908092
NM_018648.3(NOP10):c.122_135delinsCACC (p.Tyr41fs)
NM_020207.5(ERCC6L2):c.1236_1239del (p.Thr413fs) rs886037662
NM_020207.5(ERCC6L2):c.1963C>T (p.Arg655Ter) rs147948835
NM_021083.4(XK):c.880T>C (p.Cys294Arg) rs28933690
NM_021083.4(XK):c.895C>T (p.Gln299Ter) rs104894954
NM_021083.4(XK):c.941G>A (p.Trp314Ter) rs104894953
NM_021922.2(FANCE):c.1114-8G>A rs878854342
NM_021922.2(FANCE):c.355C>T (p.Gln119Ter) rs121434505
NM_021922.2(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.2(FANCE):c.929dup (p.Val311fs)
NM_022725.3(FANCF):c.16C>T (p.Gln6Ter) rs104894221
NM_022725.3(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.3(FANCF):c.327C>G (p.Tyr109Ter) rs104894222
NM_022725.3(FANCF):c.351_397del (p.Gly120fs) rs730880278
NM_022725.3(FANCF):c.480_481CT[2] (p.Leu162fs) rs587778340
NM_022762.5(RMND5B):c.*1683A>T rs121908091
NM_022762.5(RMND5B):c.*1728A>G rs121908089
NM_022762.5(RMND5B):c.*1767C>T rs121908090
NM_024580.6(EFL1):c.2645T>A (p.Met882Lys) rs1316615934
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) rs376095522
NM_024675.3(PALB2):c.106C>T (p.Gln36Ter) rs757369748
NM_024675.3(PALB2):c.1240C>T (p.Arg414Ter) rs180177100
NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997
NM_024675.3(PALB2):c.1676_1677delinsG (p.Gln559fs) rs515726073
NM_024675.3(PALB2):c.2393_2394insCT (p.Thr799fs) rs180177113
NM_024675.3(PALB2):c.2521del (p.Thr841fs) rs180177116
NM_024675.3(PALB2):c.2834+1G>T rs587776419
NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.3(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.3(PALB2):c.3323del (p.Tyr1108fs) rs180177135
NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_024675.3(PALB2):c.395del (p.Val132fs) rs180177085
NM_024675.3(PALB2):c.755_756CT[1] (p.Leu253fs) rs180177092
NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter)
NM_025099.6(CTC1):c.248_251dup (p.His84fs)
NM_025099.6(CTC1):c.277C>T (p.Gln93Ter)
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025099.6(CTC1):c.2951_2953GTT[1] (p.Cys985del) rs199473679
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)
NM_025099.6(CTC1):c.3049C>T (p.Gln1017Ter) rs1567599296
NM_025099.6(CTC1):c.3099dup (p.Val1034fs)
NM_025099.6(CTC1):c.440del (p.Ile147fs) rs1196342305
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp) rs104894371
NM_025215.6(PUS1):c.658G>T (p.Glu220Ter) rs104894372
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp) rs869025309
NM_030943.3(AMN):c.318_319CT[3] (p.Asp108fs) rs1555381324
NM_032043.2(BRIP1):c.-31+498_187del
NM_032043.2(BRIP1):c.1004G>A (p.Trp335Ter) rs1555607749
NM_032043.2(BRIP1):c.1018_1019insCT (p.Leu340fs) rs878855134
NM_032043.2(BRIP1):c.103G>T (p.Gly35Ter) rs373104267
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.1052_1055dup (p.Tyr353fs)
NM_032043.2(BRIP1):c.1066C>T (p.Arg356Ter) rs730881633
NM_032043.2(BRIP1):c.1072_1087del (p.Leu358fs) rs1567831649
NM_032043.2(BRIP1):c.1109_1110dup (p.Tyr371fs) rs1567831477
NM_032043.2(BRIP1):c.1114_1115delinsA
NM_032043.2(BRIP1):c.1124_1125CA[1] (p.Gln376fs) rs587780224
NM_032043.2(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer)
NM_032043.2(BRIP1):c.1162C>T (p.Gln388Ter) rs1304655615
NM_032043.2(BRIP1):c.1201_1202TG[4] (p.Ala402fs) rs730881647
NM_032043.2(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226
NM_032043.2(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.2(BRIP1):c.1343G>A (p.Trp448Ter) rs775171520
NM_032043.2(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228
NM_032043.2(BRIP1):c.1383T>G (p.Tyr461Ter) rs587780875
NM_032043.2(BRIP1):c.1414G>T (p.Glu472Ter) rs1555605902
NM_032043.2(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.2(BRIP1):c.1495C>T (p.Gln499Ter) rs1060501739
NM_032043.2(BRIP1):c.1510del (p.Ile504fs) rs775735278
NM_032043.2(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.2(BRIP1):c.1534G>T (p.Glu512Ter)
NM_032043.2(BRIP1):c.1537del (p.Ala513fs) rs1567816997
NM_032043.2(BRIP1):c.1594dup (p.Met532fs) rs1339743866
NM_032043.2(BRIP1):c.1618C>T (p.Gln540Ter)
NM_032043.2(BRIP1):c.1622del (p.Asn541fs)
NM_032043.2(BRIP1):c.1661del (p.Gln554fs) rs749762964
NM_032043.2(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Lys567_Asn568insIleSerAsnTer) rs878855140
NM_032043.2(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.2(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495
NM_032043.2(BRIP1):c.1791del (p.Val598fs) rs1567813223
NM_032043.2(BRIP1):c.1831del (p.Val611fs) rs1567812616
NM_032043.2(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.2(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321
NM_032043.2(BRIP1):c.1916_1917AT[1] (p.Ile640fs) rs1555602127
NM_032043.2(BRIP1):c.193C>T (p.Gln65Ter) rs575595017
NM_032043.2(BRIP1):c.1941G>A (p.Trp647Ter) rs786202760
NM_032043.2(BRIP1):c.1970del (p.Gly657fs) rs760782298
NM_032043.2(BRIP1):c.1993C>T (p.Gln665Ter)
NM_032043.2(BRIP1):c.200_201dup (p.Ser68fs) rs1555618374
NM_032043.2(BRIP1):c.2010dup (p.Glu671Ter) rs775537066
NM_032043.2(BRIP1):c.2038_2039del (p.Leu680fs) rs587778134
NM_032043.2(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.2(BRIP1):c.2108delinsTCC (p.Lys703fs) rs786203384
NM_032043.2(BRIP1):c.210del (p.Lys70fs) rs1555617925
NM_032043.2(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.2(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.2(BRIP1):c.2133del (p.Gly712fs) rs1567781543
NM_032043.2(BRIP1):c.2138T>G (p.Leu713Ter) rs878855145
NM_032043.2(BRIP1):c.2205dup (p.Asp736Ter) rs1555591385
NM_032043.2(BRIP1):c.2221dup (p.Val741fs) rs1567781169
NM_032043.2(BRIP1):c.2223_2225dup (p.Tyr742Ter) rs1310861578
NM_032043.2(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.2(BRIP1):c.2249_2250GA[2] (p.Lys752fs)
NM_032043.2(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.2(BRIP1):c.2273dup (p.Ala759fs) rs587780236
NM_032043.2(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.2(BRIP1):c.243del (p.Val82fs) rs1064794890
NM_032043.2(BRIP1):c.2464dup (p.Tyr822fs) rs1483527885
NM_032043.2(BRIP1):c.2479C>T (p.Gln827Ter) rs786203898
NM_032043.2(BRIP1):c.2517G>A (p.Trp839Ter) rs1555574803
NM_032043.2(BRIP1):c.2576-1G>A rs587782539
NM_032043.2(BRIP1):c.2589G>A (p.Trp863Ter) rs1555573497
NM_032043.2(BRIP1):c.2589_2590insTACG (p.Val864fs)
NM_032043.2(BRIP1):c.2605C>T (p.Gln869Ter)
NM_032043.2(BRIP1):c.2640del (p.Leu881fs) rs1567731917
NM_032043.2(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.2(BRIP1):c.270C>A (p.Cys90Ter) rs1060501740
NM_032043.2(BRIP1):c.2732dup (p.Thr912fs) rs752780954
NM_032043.2(BRIP1):c.2756dup (p.Pro920fs)
NM_032043.2(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410
NM_032043.2(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.2(BRIP1):c.2786_2789dup (p.Pro931fs) rs1295703239
NM_032043.2(BRIP1):c.2792del (p.Pro931fs) rs1555573327
NM_032043.2(BRIP1):c.286_289ACAA[1] (p.Asn97fs) rs763009188
NM_032043.2(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.2(BRIP1):c.2947dup (p.Ile983fs) rs774684620
NM_032043.2(BRIP1):c.2982_2985CAAA[2] (p.Thr997fs) rs771028677
NM_032043.2(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.2(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs) rs763443434
NM_032043.2(BRIP1):c.30del (p.Ile10fs) rs1567878234
NM_032043.2(BRIP1):c.358_361dup (p.Thr121fs) rs1567874485
NM_032043.2(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.2(BRIP1):c.440dup (p.Tyr147Ter) rs786203521
NM_032043.2(BRIP1):c.441C>G (p.Tyr147Ter)
NM_032043.2(BRIP1):c.448G>T (p.Glu150Ter) rs762701532
NM_032043.2(BRIP1):c.462dup (p.Gln155fs) rs1567868477
NM_032043.2(BRIP1):c.463C>T (p.Gln155Ter) rs587781786
NM_032043.2(BRIP1):c.46del (p.Tyr16fs) rs876660613
NM_032043.2(BRIP1):c.472_476AAGAA[1] (p.Lys159fs) rs1555616143
NM_032043.2(BRIP1):c.484C>T (p.Arg162Ter) rs747604569
NM_032043.2(BRIP1):c.514A>T (p.Lys172Ter)
NM_032043.2(BRIP1):c.548del (p.Leu183fs) rs1060501778
NM_032043.2(BRIP1):c.55dup (p.Tyr19fs) rs1567878148
NM_032043.2(BRIP1):c.576del (p.Thr192_Val193insTer) rs876660769
NM_032043.2(BRIP1):c.604del (p.Lys201_Ile202insTer)
NM_032043.2(BRIP1):c.608del (p.Asn203fs)
NM_032043.2(BRIP1):c.632del (p.Pro211fs) rs1060501779
NM_032043.2(BRIP1):c.633del (p.Gly212fs) rs779466229
NM_032043.2(BRIP1):c.68dup (p.Ser24fs) rs1555618716
NM_032043.2(BRIP1):c.777dup (p.Thr260fs) rs1555609254
NM_032043.2(BRIP1):c.7_11del (p.Ser3fs)
NM_032043.2(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032043.2(BRIP1):c.876del (p.Phe292fs) rs1555609162
NM_032043.2(BRIP1):c.890del (p.Lys297fs) rs786202610
NM_032043.2(BRIP1):c.918del (p.Asn306fs) rs1555609116
NM_032043.2(BRIP1):c.939T>G (p.Tyr313Ter) rs1436085018
NM_032043.2(BRIP1):c.94-7_178dup rs1555618396
NM_032043.2(BRIP1):c.96del (p.Leu33fs)
NM_032444.4(SLX4):c.1163+2T>A rs773642409
NM_032444.4(SLX4):c.1880_1887del (p.Pro627fs)
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773
NM_032444.4(SLX4):c.2449del (p.Glu817fs) rs1567170994
NM_032444.4(SLX4):c.3726_3729del (p.Ser1243fs) rs878855162
NM_032444.4(SLX4):c.4862del (p.Leu1621fs) rs1567166544
NM_032444.4(SLX4):c.514del (p.Leu172fs) rs1567178071
NM_032444.4(SLX4):c.59del (p.Leu20fs) rs1315905872
NM_032444.4(SLX4):c.860del (p.Ser287fs) rs752720263
NM_032487.4(ACTRT3):c.831_*2687del2976
NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys) rs119455950
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_032985.6(SEC23B):c.1489C>T (p.Arg497Cys) rs727504145
NM_033022.3(RPS24):c.13_14del (p.Val5fs)
NM_033022.3(RPS24):c.148A>C (p.Thr50Pro) rs1554841994
NM_033022.3(RPS24):c.1A>G (p.Met1Val) rs886039545
NM_033022.3(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033022.3(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806
NM_033084.4(FANCD2):c.-33-?_1098+?del
NM_033084.5(FANCD2):c.1201del (p.Arg401fs) rs1553608812
NM_033084.5(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785
NM_033084.5(FANCD2):c.2487C>G (p.Tyr829Ter) rs1289665675
NM_033084.5(FANCD2):c.3707G>A (p.Arg1236His) rs121917786
NM_033084.5(FANCD2):c.553dup (p.Arg185fs) rs1553607671
NM_033084.5(FANCD2):c.757C>T (p.Arg253Ter)
NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_033084.5(FANCD2):c.958C>T (p.Gln320Ter) rs121917788
NM_033500.2(HK1):c.1550T>C (p.Leu517Ser) rs137853249
NM_033500.2(HK1):c.2003C>G (p.Thr668Ser) rs398122379
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly) rs786203996
NM_058216.1(RAD51C):c.(?_-1)_(*1_?)del
NM_058216.2(RAD51C):c.(?_-1)_837+?del
NM_058216.2(RAD51C):c.572-?_*(1_?)del
NM_058216.2(RAD51C):c.572-?_*120del
NM_058216.2(RAD51C):c.572-?_705+?del (p.(?))
NM_058216.2(RAD51C):c.706-?_*120del
NM_058216.2(RAD51C):c.966-?_1026+?del
NM_058216.3(RAD51C):c.145+1G>T rs757128712
NM_058216.3(RAD51C):c.179_180CT[1] (p.Leu61fs) rs786203945
NM_058216.3(RAD51C):c.186_187del (p.Gln62fs) rs587782170
NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter) rs1567785872
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter) rs1555593616
NM_058216.3(RAD51C):c.312T>A (p.Cys104Ter) rs1555593715
NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter) rs1567782755
NM_058216.3(RAD51C):c.363_371delinsC (p.Glu122fs) rs1567786509
NM_058216.3(RAD51C):c.394dup (p.Thr132fs) rs730881940
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159
NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs)
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058216.3(RAD51C):c.50del (p.Phe17fs) rs1555591851
NM_058216.3(RAD51C):c.525dup (p.Cys176fs) rs768793789
NM_058216.3(RAD51C):c.52_53del (p.Pro18fs)
NM_058216.3(RAD51C):c.535del (p.His179fs) rs1555594864
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302
NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter) rs1555597094
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter) rs786201909
NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter) rs587782818
NM_058216.3(RAD51C):c.706-2A>G rs587780259
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624
NM_058216.3(RAD51C):c.732del (p.Ile244fs) rs1060502601
NM_058216.3(RAD51C):c.73delinsTTC (p.Val25fs) rs1567782936
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349
NM_058216.3(RAD51C):c.802C>T (p.Gln268Ter) rs1567799818
NM_058216.3(RAD51C):c.851_854del (p.Asn284fs) rs1060502605
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141
NM_058216.3(RAD51C):c.905-2A>C rs779582317
NM_058216.3(RAD51C):c.905-2A>G rs779582317
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995
NM_058216.3(RAD51C):c.905-3_906del rs730881941
NM_058216.3(RAD51C):c.910del (p.Ser304fs) rs1555603011
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) rs876659874
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter) rs587781287
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528
NM_058216.3(RAD51C):c.97_98del (p.Gln33fs) rs587780840
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp) rs281875208
NM_080669.6(SLC46A1):c.1012G>C (p.Gly338Arg) rs281875209
NM_080669.6(SLC46A1):c.1082-1G>A rs80338775
NM_080669.6(SLC46A1):c.1126C>T (p.Arg376Trp) rs80338773
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln) rs281875211
NM_080669.6(SLC46A1):c.1274C>G (p.Pro425Arg) rs80338774
NM_080669.6(SLC46A1):c.194del (p.Gly65fs) rs80338769
NM_080669.6(SLC46A1):c.194dup (p.Cys66fs) rs80338769
NM_080669.6(SLC46A1):c.197_198delinsAA (p.Cys66Ter) rs154623632
NM_080669.6(SLC46A1):c.204_205del (p.Asn68fs) rs397515391
NM_080669.6(SLC46A1):c.23dup (p.Glu9fs) rs397515574
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser) rs80338770
NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys) rs80338770
NM_080669.6(SLC46A1):c.439G>C (p.Gly147Arg) rs80338771
NM_080669.6(SLC46A1):c.466G>T (p.Asp156Tyr) rs281875210
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg) rs80338772
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167
NM_138477.4(CDAN1):c.1117_1119del (p.Val373del) rs120074169
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694
NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser) rs120074166
NM_138477.4(CDAN1):c.1860+5G>A rs113313967
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp) rs80338696
NM_138477.4(CDAN1):c.2602T>A (p.Phe868Ile) rs120074168
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_138477.4(CDAN1):c.3128A>T (p.Asp1043Val) rs80338698
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699
NM_139276.2(STAT3):c.1032G>C (p.Gln344His) rs869312887
NM_139276.2(STAT3):c.1057G>T (p.Val353Phe) rs869312891
NM_139276.2(STAT3):c.1175A>G (p.Lys392Arg) rs587777648
NM_139276.2(STAT3):c.1243G>A (p.Glu415Lys) rs193922717
NM_139276.2(STAT3):c.1260T>G (p.Asn420Lys) rs869312893
NM_139276.2(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_139276.2(STAT3):c.1938C>G (p.Asn646Lys) rs587777649
NM_139276.2(STAT3):c.1974G>C (p.Lys658Asn) rs587777650
NM_139276.2(STAT3):c.1988C>T (p.Thr663Ile) rs869312889
NM_139276.2(STAT3):c.2107G>A (p.Ala703Thr) rs869312894
NM_139276.2(STAT3):c.2147C>T (p.Thr716Met) rs869312892
NM_139276.2(STAT3):c.454C>T (p.Arg152Trp) rs869312890
NM_148923.4(CYB5A):c.130-2A>G rs794728010
NM_148923.4(CYB5A):c.131A>T (p.His44Leu) rs1555688659
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter) rs1555691399
NM_153609.3(TMPRSS6):c.1065C>A (p.Tyr355Ter) rs137853121
NM_153609.3(TMPRSS6):c.1179T>G (p.Tyr393Ter) rs137853122
NM_153609.3(TMPRSS6):c.1324G>A (p.Gly442Arg) rs137853119
NM_153609.3(TMPRSS6):c.1561G>A (p.Asp521Asn) rs137853120
NM_153609.3(TMPRSS6):c.1564G>A (p.Glu522Lys) rs387907018
NM_153609.3(TMPRSS6):c.1582+1G>A rs786205058
NM_153609.3(TMPRSS6):c.1795C>T (p.Arg599Ter) rs137853123
NM_153609.3(TMPRSS6):c.1813del (p.Ala605fs) rs767094129
NM_153609.3(TMPRSS6):c.1904_1905dup (p.Lys636fs) rs869320724
NM_153609.3(TMPRSS6):c.2055_2058dup (p.Val687fs) rs786205060
NM_153609.3(TMPRSS6):c.2140+1G>C rs786205059
NM_153609.3(TMPRSS6):c.2161C>T (p.Gln721Ter) rs775869554
NM_153609.3(TMPRSS6):c.234C>G (p.Tyr78Ter) rs1569024289
NM_153609.3(TMPRSS6):c.353C>A (p.Ala118Asp) rs267607121
NM_181697.3(PRDX1):c.515-1G>T rs751828470
NM_181697.3(PRDX1):c.515-2A>T rs1379672870
NM_182758.4(WDR72):c.1777A>G (p.Arg593Gly) rs1376457227
NM_182758.4(WDR72):c.2522T>A (p.Leu841Gln) rs768446132
NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter) rs557128345
NM_182915.3(STEAP3):c.330C>A (p.Cys110Ter) rs587776963
NM_182916.3(TRNT1):c.1057-7C>G rs368078167
NM_182916.3(TRNT1):c.1142_1143insATGT (p.Trp381Ter) rs606231291
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) rs876661298
NM_182916.3(TRNT1):c.324_330del (p.His108fs)
NM_182916.3(TRNT1):c.461C>T (p.Thr154Ile) rs606231290
NM_182916.3(TRNT1):c.497T>C (p.Leu166Ser) rs606231289
NM_182916.3(TRNT1):c.569G>T (p.Arg190Ile) rs606231287
NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr) rs370011798
NM_182916.3(TRNT1):c.865del (p.Ser289fs)
NM_184041.4(ALDOA):c.386A>G (p.Asp129Gly) rs121909533
NM_184041.4(ALDOA):c.619G>A (p.Glu207Lys) rs121909534
NM_198253.2(TERT):c.1044_1045CT[2] (p.Leu350fs) rs1554042899
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.1450G>T (p.Glu484Ter)
NM_198253.2(TERT):c.164T>A (p.Leu55Gln) rs387907247
NM_198253.2(TERT):c.1685_1686del (p.Tyr562fs)
NM_198253.2(TERT):c.1796G>A (p.Arg599Gln)
NM_198253.2(TERT):c.180G>A (p.Trp60Ter) rs1554043139
NM_198253.2(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.2(TERT):c.2029G>T (p.Gly677Cys) rs199422296
NM_198253.2(TERT):c.2045G>A (p.Gly682Asp) rs199422295
NM_198253.2(TERT):c.2080G>A (p.Val694Met) rs121918662
NM_198253.2(TERT):c.2098C>T (p.Gln700Ter) rs878855300
NM_198253.2(TERT):c.2110C>T (p.Pro704Ser) rs199422297
NM_198253.2(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.2(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.2(TERT):c.2162C>G (p.Pro721Arg) rs199422299
NM_198253.2(TERT):c.2177C>T (p.Thr726Met) rs149566858
NM_198253.2(TERT):c.219+1G>A rs199422309
NM_198253.2(TERT):c.2240del (p.Val747fs) rs199422300
NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.2(TERT):c.2320C>T (p.Arg774Ter) rs770066110
NM_198253.2(TERT):c.2431C>T (p.Arg811Cys) rs199422301
NM_198253.2(TERT):c.2537A>G (p.Tyr846Cys) rs199422302
NM_198253.2(TERT):c.2583-2A>C rs111576740
NM_198253.2(TERT):c.2594G>A (p.Arg865His) rs121918666
NM_198253.2(TERT):c.2628C>G (p.His876Gln) rs199422303
NM_198253.2(TERT):c.2701C>T (p.Arg901Trp) rs199422304
NM_198253.2(TERT):c.2705A>G (p.Lys902Arg) rs387907250
NM_198253.2(TERT):c.2706G>C (p.Lys902Asn) rs121918665
NM_198253.2(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.2(TERT):c.2839T>C (p.Ser947Pro)
NM_198253.2(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.2(TERT):c.3043T>C (p.Cys1015Arg) rs199422307
NM_198253.2(TERT):c.3108_3109CT[1] (p.Ile1036_Ser1037insTer) rs1554038257
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.2(TERT):c.3268G>A (p.Val1090Met) rs121918664
NM_198253.2(TERT):c.3346G>C (p.Glu1116Gln)
NM_198253.2(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.2(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.2(TERT):c.579_580delinsTT (p.Arg194Ter) rs1554043041
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198253.2(TERT):c.688C>T (p.Arg230Ter)
NM_198253.2(TERT):c.835G>A (p.Ala279Thr) rs61748181
NM_198253.2(TERT):c.[2371G>A;2599G>A]
NM_199186.2(BPGM):c.268C>T (p.Arg90Cys) rs121964925
NM_203330.2(CD59):c.146del (p.Asp49fs) rs587777149
NM_203330.2(CD59):c.266G>A (p.Cys89Tyr) rs397514767
NM_203342.2(EPB41):c.-159_159del
NM_203342.2(EPB41):c.2T>C (p.Met1Thr) rs121434564
NM_203342.2(EPB41):c.2T>G (p.Met1Arg) rs121434564
NM_203342.2(EPB41):c.444_450del (p.Asn149fs) rs869025285
NM_206965.2(FTCD):c.378C>G (p.Tyr126Ter) rs374724805
NM_206965.2(FTCD):c.403C>T (p.Arg135Cys) rs28941768
NM_206965.2(FTCD):c.896G>C (p.Arg299Pro) rs119469015
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NR_001566.1(TERC):n.-100C>G rs199422256
NR_001566.1(TERC):n.-240_-239del rs199422255
NR_001566.1(TERC):n.100T>A rs199422269
NR_001566.1(TERC):n.107G>T rs1553915617
NR_001566.1(TERC):n.107_108delinsAG rs199476393
NR_001566.1(TERC):n.110_113del rs199422270
NR_001566.1(TERC):n.116C>T rs199422272
NR_001566.1(TERC):n.117A>C rs199422273
NR_001566.1(TERC):n.122_125delGCGG rs1553915612
NR_001566.1(TERC):n.143G>A rs199422274
NR_001566.1(TERC):n.178G>A rs199422275
NR_001566.1(TERC):n.180C>T rs199422276
NR_001566.1(TERC):n.204C>G rs199422277
NR_001566.1(TERC):n.216_229del rs199422278
NR_001566.1(TERC):n.228G>A rs141686314
NR_001566.1(TERC):n.28_34del rs199422259
NR_001566.1(TERC):n.2G>C rs199422257
NR_001566.1(TERC):n.305G>A rs199422279
NR_001566.1(TERC):n.322G>A rs199422280
NR_001566.1(TERC):n.323C>T rs199422281
NR_001566.1(TERC):n.35C>T rs199422260
NR_001566.1(TERC):n.374_1194del821 rs1553915517
NR_001566.1(TERC):n.37A>G rs199422261
NR_001566.1(TERC):n.391_392del rs199422283
NR_001566.1(TERC):n.407_408delinsAA rs1553915580
NR_001566.1(TERC):n.408C>G rs199422284
NR_001566.1(TERC):n.410C>G rs199422286
NR_001566.1(TERC):n.450G>A rs199422287
NR_001566.1(TERC):n.48A>G rs199422262
NR_001566.1(TERC):n.53_87del rs199422264
NR_001566.1(TERC):n.54_57del rs199422263
NR_001566.1(TERC):n.58G>A rs113487931
NR_001566.1(TERC):n.69_74dup rs1553915621
NR_001566.1(TERC):n.72C>G rs199422265
NR_001566.1(TERC):n.79del rs199422266
NR_001566.1(TERC):n.96_97del rs199422267
NR_001566.1(TERC):n.98G>A rs199422268
PALB2:c.49-?_2586+?del
PFKM, 1-BP DEL, 2003C
PFKM, IVS15DS, G-T, +1
PFKM, IVS5DS, G-A, +1
PFKM, IVS6AS, A-C, -2
PIEZO1, E756DEL
PIGA, IVS5DS, G-A, +1, SOMATIC
PKLR, -83G-C
PKLR, 1-BP DEL
PKLR, 1-BP DEL, 823G
RPL11, 2-BP DEL, 60CT
RPL11, 3-BP DEL, 482AGG
RPL11, IVS2AS, G-A, -1
RPL5, 1-BP INS, 235T
RPL5, 2-BP DEL, 173GA
RPL5, 5-BP DEL/39-BP INS, NT498
RPL5, IVS2DS, T-G, +2
RPS10, 1-BP INS, 260C
RPS17, 2.9-KB DEL
RPS19, LEU45GLN AND 2-BP INS, 160CT
RTEL1:c.2402G>A (p.Arg801His) rs201540674
SBDS, 1-BP INS, 96A
SLC11A2, 3-BP DEL, 310CTT
SLC11A2, 3-BP DEL, 428GTG
SLC19A2, 1-BP DEL, 724C
SLC19A2, 1-BP DEL, 885T
SLC19A2, 1-BP INS, 242A
SLC19A2, 2-BP DEL, 1147GT
SLC19A2, 2-BP DEL, 429TT
SLC46A1, 1-BP INS, 17C
SLX4, 1-BP DEL, 1093C
SLX4, 1-BP DEL, 286A
SLX4, 4,890-BP DEL/2-BP INS
SLX4, IVS5DS, 1-BP DUP, T, +3
SPTA1, EX5DEL, SVA RETROTRANSPOSON INS
SPTA1, IVS30, C-T, -99
SPTB, 1-BP DEL, FS2075TER
SPTB, EX22-23DEL
Single allele
TERC, 143G-A
TERC, 212C-G
TERC, 325G-T
TERT:c.1710G>Y (p.Lys570Asn) rs1554041299
TF, 10-BP DEL AND 9-BP DUP
TINF2, 1-BP DEL, 839A
TMPRSS6, 1-BP DEL, 1383A
UROS, 80-BP INS
UROS, IVS9, T-G, -31
XK, 1-BP DEL
XK, 1-BP DEL, 1095T
XK, 13-BP DEL
XK, IVS2AS, G-A, -1
XK, IVS2DS, G-A, +1
c.17delA
nsv1197578

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