ClinVar Miner

List of variants studied for anemia (disease) by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5561
Download table as spreadsheet
HGVS dbSNP
NC_000004.12:g.109802142C>T
NC_000006.12:g.31946023T>C
NC_000012.12:g.131929266G>C
NC_000012.12:g.32755905T>C
NC_000012.12:g.32755946G>C
NC_000013.11:g.32315487G>T
NC_000015.10:g.43197220C>T
NC_000017.11:g.61863560C>T
NC_000019.10:g.41860100C>G
NC_000019.10:g.41860240G>A
NC_000019.10:g.6720664T>G
NM_000032.5(ALAS2):c.*124C>T
NM_000032.5(ALAS2):c.*56A>C rs6612250
NM_000032.5(ALAS2):c.-16+6A>G
NM_000032.5(ALAS2):c.-34C>T rs780642606
NM_000032.5(ALAS2):c.1062C>G (p.Thr354=) rs201740830
NM_000032.5(ALAS2):c.1092G>A (p.Leu364=) rs150494562
NM_000032.5(ALAS2):c.1107C>T (p.Gly369=) rs368764287
NM_000032.5(ALAS2):c.110G>A (p.Arg37His)
NM_000032.5(ALAS2):c.1167T>G (p.Leu389=) rs140584437
NM_000032.5(ALAS2):c.1318G>C (p.Gly440Arg) rs758646032
NM_000032.5(ALAS2):c.1321G>A (p.Glu441Lys) rs760790600
NM_000032.5(ALAS2):c.1335C>T (p.Ala445=) rs765603040
NM_000032.5(ALAS2):c.1436G>A (p.Arg479Gln) rs141305388
NM_000032.5(ALAS2):c.1458C>T (p.Asn486=)
NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=)
NM_000032.5(ALAS2):c.1532G>A (p.Arg511Gln)
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=) rs150055592
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr) rs199826743
NM_000032.5(ALAS2):c.1626G>A (p.Ala542=) rs6612251
NM_000032.5(ALAS2):c.1638C>G (p.Pro546=)
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) rs145704441
NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe) rs201799139
NM_000032.5(ALAS2):c.231C>A (p.Leu77=) rs760900782
NM_000032.5(ALAS2):c.282A>G (p.Glu94=) rs150313977
NM_000032.5(ALAS2):c.416-11T>C rs977637650
NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys) rs754772558
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr) rs753156183
NM_000032.5(ALAS2):c.741C>T (p.His247=) rs1057515971
NM_000032.5(ALAS2):c.824-15C>T rs727467
NM_000037.4(ANK1):c.*1031G>A
NM_000037.4(ANK1):c.*1062T>G rs886062934
NM_000037.4(ANK1):c.*1074A>G rs886062933
NM_000037.4(ANK1):c.*1120T>C
NM_000037.4(ANK1):c.*117G>A
NM_000037.4(ANK1):c.*1242G>T rs886062932
NM_000037.4(ANK1):c.*1250A>G
NM_000037.4(ANK1):c.*1402G>T rs116137861
NM_000037.4(ANK1):c.*1412G>A
NM_000037.4(ANK1):c.*1424C>T
NM_000037.4(ANK1):c.*1474C>T
NM_000037.4(ANK1):c.*1590G>A rs572470025
NM_000037.4(ANK1):c.*1603C>G
NM_000037.4(ANK1):c.*1609C>G rs78203311
NM_000037.4(ANK1):c.*1667T>A rs3802314
NM_000037.4(ANK1):c.*1708G>C rs182454354
NM_000037.4(ANK1):c.*1808A>G
NM_000037.4(ANK1):c.*1858A>C
NM_000037.4(ANK1):c.*1880C>A
NM_000037.4(ANK1):c.*1884G>A
NM_000037.4(ANK1):c.*1892G>A
NM_000037.4(ANK1):c.*1892G>T
NM_000037.4(ANK1):c.*1899G>A rs72638943
NM_000037.4(ANK1):c.*1952G>A rs886062931
NM_000037.4(ANK1):c.*2022G>A rs112447985
NM_000037.4(ANK1):c.*2123G>T rs560472367
NM_000037.4(ANK1):c.*2152T>G rs543817
NM_000037.4(ANK1):c.*2172C>A rs886062930
NM_000037.4(ANK1):c.*2281C>T rs545505994
NM_000037.4(ANK1):c.*2342C>G rs886062929
NM_000037.4(ANK1):c.*238T>C rs72638944
NM_000037.4(ANK1):c.*2409C>T
NM_000037.4(ANK1):c.*31C>T
NM_000037.4(ANK1):c.*32G>A
NM_000037.4(ANK1):c.*372T>C
NM_000037.4(ANK1):c.*378T>G
NM_000037.4(ANK1):c.*385G>T
NM_000037.4(ANK1):c.*395T>A
NM_000037.4(ANK1):c.*411C>G
NM_000037.4(ANK1):c.*437A>C
NM_000037.4(ANK1):c.*48G>A
NM_000037.4(ANK1):c.*4C>T rs201561226
NM_000037.4(ANK1):c.*64A>G
NM_000037.4(ANK1):c.*651A>C rs886062936
NM_000037.4(ANK1):c.*665C>T
NM_000037.4(ANK1):c.*701C>T rs546029986
NM_000037.4(ANK1):c.*774A>G rs142696529
NM_000037.4(ANK1):c.*795A>G
NM_000037.4(ANK1):c.*821C>T
NM_000037.4(ANK1):c.*822G>A
NM_000037.4(ANK1):c.*857C>A
NM_000037.4(ANK1):c.*866C>G
NM_000037.4(ANK1):c.*8C>A
NM_000037.4(ANK1):c.*992T>C rs559077429
NM_000037.4(ANK1):c.-33G>A
NM_000037.4(ANK1):c.-63A>G
NM_000037.4(ANK1):c.1050C>T (p.His350=)
NM_000037.4(ANK1):c.1056G>C (p.Arg352Ser) rs375151253
NM_000037.4(ANK1):c.1117A>T (p.Thr373Ser)
NM_000037.4(ANK1):c.1131C>A (p.Ile377=) rs373336198
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) rs142626656
NM_000037.4(ANK1):c.1178C>T (p.Thr393Met) rs563833117
NM_000037.4(ANK1):c.1179G>A (p.Thr393=) rs886062941
NM_000037.4(ANK1):c.1194C>T (p.Asp398=)
NM_000037.4(ANK1):c.1197G>A (p.Ala399=)
NM_000037.4(ANK1):c.1203C>T (p.Thr401=) rs145628190
NM_000037.4(ANK1):c.1230G>C (p.Val410=)
NM_000037.4(ANK1):c.1320G>A (p.Pro440=) rs28533718
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr) rs142010751
NM_000037.4(ANK1):c.1350G>A (p.Thr450=) rs769803878
NM_000037.4(ANK1):c.1387G>A (p.Val463Ile) rs140085544
NM_000037.4(ANK1):c.1404+15C>A
NM_000037.4(ANK1):c.1404+15C>T rs201598401
NM_000037.4(ANK1):c.1415C>T (p.Thr472Ile) rs150655828
NM_000037.4(ANK1):c.1441G>A (p.Gly481Ser)
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser) rs142690258
NM_000037.4(ANK1):c.1486C>T (p.Pro496Ser) rs138685137
NM_000037.4(ANK1):c.1503C>T (p.Thr501=) rs145793923
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324
NM_000037.4(ANK1):c.1521G>A (p.Leu507=)
NM_000037.4(ANK1):c.1535G>A (p.Arg512His)
NM_000037.4(ANK1):c.1563C>T (p.Ala521=) rs762615459
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865
NM_000037.4(ANK1):c.1628C>T (p.Ala543Val) rs369233964
NM_000037.4(ANK1):c.1638C>T (p.Tyr546=)
NM_000037.4(ANK1):c.1673G>A (p.Arg558Gln) rs577967149
NM_000037.4(ANK1):c.1782C>A (p.Ser594=) rs61753679
NM_000037.4(ANK1):c.1824C>T (p.Ile608=) rs144904116
NM_000037.4(ANK1):c.183G>C (p.Val61=) rs61753680
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) rs2304877
NM_000037.4(ANK1):c.1859G>A (p.Ser620Asn)
NM_000037.4(ANK1):c.1926C>T (p.Ala642=) rs534680895
NM_000037.4(ANK1):c.2073C>T (p.Gly691=) rs1137177
NM_000037.4(ANK1):c.2096G>A (p.Arg699Gln) rs150032875
NM_000037.4(ANK1):c.2097+15C>T rs200206750
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) rs150899388
NM_000037.4(ANK1):c.2196+6G>A rs200761553
NM_000037.4(ANK1):c.2197-9A>G rs758665687
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) rs34194642
NM_000037.4(ANK1):c.229-11A>G rs372152994
NM_000037.4(ANK1):c.2349C>T (p.Thr783=) rs2304880
NM_000037.4(ANK1):c.2370G>T (p.Thr790=) rs540304535
NM_000037.4(ANK1):c.237C>T (p.Asn79=) rs372696694
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608
NM_000037.4(ANK1):c.2589C>T (p.Pro863=) rs114870847
NM_000037.4(ANK1):c.2601T>C (p.Pro867=) rs540851221
NM_000037.4(ANK1):c.2713G>A (p.Val905Met)
NM_000037.4(ANK1):c.2735+10G>A rs75296105
NM_000037.4(ANK1):c.2760C>T (p.Asp920=)
NM_000037.4(ANK1):c.2817G>A (p.Pro939=)
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) rs35797405
NM_000037.4(ANK1):c.2835G>A (p.Ala945=) rs771079681
NM_000037.4(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_000037.4(ANK1):c.2960+13G>T rs200746947
NM_000037.4(ANK1):c.2981C>T (p.Pro994Leu)
NM_000037.4(ANK1):c.2982G>A (p.Pro994=) rs139623406
NM_000037.4(ANK1):c.3002G>A (p.Arg1001His)
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) rs145169484
NM_000037.4(ANK1):c.3115+9G>A rs150850103
NM_000037.4(ANK1):c.315C>T (p.Asn105=) rs2304871
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384
NM_000037.4(ANK1):c.3234C>T (p.Pro1078=) rs755219802
NM_000037.4(ANK1):c.327+3A>G
NM_000037.4(ANK1):c.3282G>A (p.Thr1094=) rs144821829
NM_000037.4(ANK1):c.3288G>A (p.Pro1096=) rs140964621
NM_000037.4(ANK1):c.3342G>T (p.Pro1114=)
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263
NM_000037.4(ANK1):c.3443G>A (p.Arg1148Gln) rs771237247
NM_000037.4(ANK1):c.3469G>A (p.Asp1157Asn)
NM_000037.4(ANK1):c.3486C>T (p.Ser1162=) rs35964634
NM_000037.4(ANK1):c.3532+10G>T
NM_000037.4(ANK1):c.3532+13C>A rs181905023
NM_000037.4(ANK1):c.3533-10G>A rs374510116
NM_000037.4(ANK1):c.3570A>C (p.Gly1190=) rs762382303
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp) rs142542271
NM_000037.4(ANK1):c.3653G>A (p.Arg1218Gln)
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) rs185516533
NM_000037.4(ANK1):c.3709C>A (p.Pro1237Thr)
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met)
NM_000037.4(ANK1):c.384G>A (p.Lys128=) rs758750884
NM_000037.4(ANK1):c.3941A>C (p.His1314Pro)
NM_000037.4(ANK1):c.3955C>T (p.Arg1319Trp)
NM_000037.4(ANK1):c.3971C>T (p.Ala1324Val)
NM_000037.4(ANK1):c.3973A>G (p.Met1325Val) rs10093583
NM_000037.4(ANK1):c.3984+12C>T rs200019819
NM_000037.4(ANK1):c.3984+9A>G rs369984591
NM_000037.4(ANK1):c.3985-10T>C rs886062940
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) rs145562489
NM_000037.4(ANK1):c.4037C>T (p.Ala1346Val) rs886062939
NM_000037.4(ANK1):c.4060C>T (p.His1354Tyr) rs764226906
NM_000037.4(ANK1):c.4101C>T (p.Ala1367=) rs7816734
NM_000037.4(ANK1):c.4104+12C>T
NM_000037.4(ANK1):c.4105-5T>G
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu)
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His) rs201439151
NM_000037.4(ANK1):c.4183+4C>T
NM_000037.4(ANK1):c.4259-13T>C rs772895763
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=) rs112677283
NM_000037.4(ANK1):c.4365C>T (p.Val1455=)
NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) rs34664882
NM_000037.4(ANK1):c.4390+9C>T
NM_000037.4(ANK1):c.447G>T (p.Ala149=) rs140550365
NM_000037.4(ANK1):c.4497C>T (p.His1499=) rs370037242
NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) rs34265667
NM_000037.4(ANK1):c.450A>G (p.Val150=) rs6982971
NM_000037.4(ANK1):c.4524C>T (p.Pro1508=) rs886062938
NM_000037.4(ANK1):c.4541A>C (p.Tyr1514Ser) rs755637526
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys) rs146416859
NM_000037.4(ANK1):c.4607G>A (p.Arg1536His) rs767213092
NM_000037.4(ANK1):c.4636G>A (p.Val1546Ile) rs1060130
NM_000037.4(ANK1):c.483G>A (p.Ala161=) rs200639644
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000037.4(ANK1):c.4976C>T (p.Ala1659Val) rs369796910
NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) rs201024919
NM_000037.4(ANK1):c.5008G>A (p.Val1670Met) rs886062937
NM_000037.4(ANK1):c.5045G>A (p.Arg1682Gln) rs140231188
NM_000037.4(ANK1):c.5061C>G (p.Pro1687=)
NM_000037.4(ANK1):c.5119G>A (p.Gly1707Ser)
NM_000037.4(ANK1):c.5177C>T (p.Thr1726Met)
NM_000037.4(ANK1):c.5208T>A (p.Ser1736Arg)
NM_000037.4(ANK1):c.5265G>A (p.Val1755=) rs750625
NM_000037.4(ANK1):c.5289A>G (p.Thr1763=) rs761133472
NM_000037.4(ANK1):c.528C>T (p.Ala176=)
NM_000037.4(ANK1):c.5376C>T (p.Thr1792=) rs147232364
NM_000037.4(ANK1):c.5448G>A (p.Thr1816=)
NM_000037.4(ANK1):c.5479-3T>C rs515071
NM_000037.4(ANK1):c.5520C>T (p.Ala1840=)
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=) rs150975400
NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp) rs145235970
NM_000037.4(ANK1):c.5628A>G (p.Lys1876=)
NM_000037.4(ANK1):c.597G>A (p.Pro199=) rs2304873
NM_000037.4(ANK1):c.617G>A (p.Gly206Glu) rs886062943
NM_000037.4(ANK1):c.649G>A (p.Glu217Lys) rs886062942
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313
NM_000037.4(ANK1):c.660C>T (p.Asn220=) rs773555671
NM_000037.4(ANK1):c.669G>A (p.Gln223=) rs375060699
NM_000037.4(ANK1):c.675C>T (p.Leu225=) rs146507999
NM_000037.4(ANK1):c.711+13C>T rs763737257
NM_000037.4(ANK1):c.722C>T (p.Thr241Met)
NM_000037.4(ANK1):c.801C>T (p.Thr267=)
NM_000037.4(ANK1):c.875T>C (p.Leu292Pro)
NM_000037.4(ANK1):c.876G>A (p.Leu292=) rs373060967
NM_000037.4(ANK1):c.909+7A>G rs17661203
NM_000037.4(ANK1):c.909+9T>C rs756182531
NM_000037.4(ANK1):c.964C>A (p.Arg322=)
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu) rs183864227
NM_000037.4(ANK1):c.985G>T (p.Ala329Ser) rs746138074
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn)
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.-40+7G>T rs1555279969
NM_000059.3(BRCA2):c.-52A>G rs206118
NM_000059.3(BRCA2):c.-59_-57del rs545321666
NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.3(BRCA2):c.1247T>G (p.Ile416Ser) rs80358418
NM_000059.3(BRCA2):c.1274A>G (p.Glu425Gly) rs768169574
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.3(BRCA2):c.1762A>G (p.Asn588Asp) rs398122731
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.198A>G (p.Gln66=) rs28897700
NM_000059.3(BRCA2):c.2025A>G (p.Thr675=) rs147381487
NM_000059.3(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296
NM_000059.3(BRCA2):c.2240A>G (p.Glu747Gly) rs397507283
NM_000059.3(BRCA2):c.2412A>G (p.Glu804=) rs587780866
NM_000059.3(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.3(BRCA2):c.2596G>A (p.Glu866Lys) rs864622476
NM_000059.3(BRCA2):c.2606C>T (p.Ser869Leu) rs80358523
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>C (p.Asp935His) rs28897716
NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944
NM_000059.3(BRCA2):c.316+13A>G rs773097109
NM_000059.3(BRCA2):c.3226G>A (p.Val1076Ile) rs431825304
NM_000059.3(BRCA2):c.323A>G (p.Asn108Ser) rs80358568
NM_000059.3(BRCA2):c.3415A>C (p.Lys1139Gln) rs747903103
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3447G>A (p.Met1149Ile) rs876660471
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.3824T>C (p.Ile1275Thr) rs80358625
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.4534C>T (p.Arg1512Cys) rs80358684
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.4828G>A (p.Val1610Met) rs80358705
NM_000059.3(BRCA2):c.506A>G (p.Lys169Arg) rs80358730
NM_000059.3(BRCA2):c.517-4C>G rs81002804
NM_000059.3(BRCA2):c.5225A>T (p.Asn1742Ile) rs756463217
NM_000059.3(BRCA2):c.5267T>A (p.Val1756Glu) rs770664957
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.5414A>G (p.Asn1805Ser) rs80358765
NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768
NM_000059.3(BRCA2):c.5602G>A (p.Asp1868Asn) rs80358781
NM_000059.3(BRCA2):c.5604C>T (p.Asp1868=) rs1401654517
NM_000059.3(BRCA2):c.561G>A (p.Glu187=) rs754678843
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.587G>T (p.Ser196Ile) rs80358818
NM_000059.3(BRCA2):c.608C>A (p.Thr203Asn) rs398122547
NM_000059.3(BRCA2):c.6101G>A (p.Arg2034His) rs80358849
NM_000059.3(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579
NM_000059.3(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.3(BRCA2):c.628A>G (p.Ile210Val) rs1555281106
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560
NM_000059.3(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712
NM_000059.3(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503
NM_000059.3(BRCA2):c.6713A>G (p.Asp2238Gly) rs80358895
NM_000059.3(BRCA2):c.6785T>G (p.Met2262Arg) rs80358904
NM_000059.3(BRCA2):c.679G>A (p.Ala227Thr) rs398122563
NM_000059.3(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212
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.7034A>G (p.Gln2345Arg) rs876661187
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7104G>A (p.Leu2368=) rs764698623
NM_000059.3(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.3(BRCA2):c.7435+10G>A rs81002793
NM_000059.3(BRCA2):c.7464A>C (p.Arg2488Ser) rs80358969
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.8042C>G (p.Thr2681Arg) rs587782519
NM_000059.3(BRCA2):c.8154T>C (p.Ile2718=) rs148880015
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069
NM_000059.3(BRCA2):c.847A>G (p.Ile283Val) rs80359097
NM_000059.3(BRCA2):c.8530G>A (p.Glu2844Lys) rs755783122
NM_000059.3(BRCA2):c.8825C>T (p.Ala2942Val) rs373227180
NM_000059.3(BRCA2):c.8834A>G (p.Gln2945Arg) rs587781800
NM_000059.3(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155
NM_000059.3(BRCA2):c.909T>G (p.Ser303=) rs757430441
NM_000059.3(BRCA2):c.9106C>G (p.Gln3036Glu) rs202155613
NM_000059.3(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.3(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
NM_000059.3(BRCA2):c.9493A>G (p.Thr3165Ala) rs587782568
NM_000059.3(BRCA2):c.9501+9A>C rs81002867
NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.3(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229
NM_000059.3(BRCA2):c.9606G>A (p.Pro3202=) rs755890067
NM_000059.3(BRCA2):c.963A>G (p.Gln321=) rs276174927
NM_000059.3(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049
NM_000059.4(BRCA2):c.*134C>T
NM_000059.4(BRCA2):c.*271C>A
NM_000059.4(BRCA2):c.*623C>T
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr) rs80358396
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.4(BRCA2):c.1224G>A (p.Met408Ile)
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=) rs1801439
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463
NM_000059.4(BRCA2):c.184T>C (p.Phe62Leu)
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=) rs779228375
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=) rs543304
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=) rs206075
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926
NM_000059.4(BRCA2):c.632-3C>T
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.4(BRCA2):c.7806-14T>C rs9534262
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.4(BRCA2):c.844C>G (p.His282Asp)
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.4(BRCA2):c.942A>G (p.Lys314=) rs1384322636
NM_000059.4(BRCA2):c.9502-12T>G rs81002803
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.4(BRCA2):c.9760A>G (p.Lys3254Glu)
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
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.1577A>G (p.Lys526Arg)
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.-44C>T
NM_000064.4(C3):c.1042A>G (p.Ile348Val) rs141737564
NM_000064.4(C3):c.1098A>G (p.Pro366=)
NM_000064.4(C3):c.1119+10G>A rs752328639
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.1296G>A (p.Ser432=)
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.1470C>T (p.Tyr490=)
NM_000064.4(C3):c.1480-4C>A
NM_000064.4(C3):c.1508C>T (p.Ala503Val)
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.1685C>T (p.Ser562Leu)
NM_000064.4(C3):c.1686+10C>T
NM_000064.4(C3):c.1692G>A (p.Val564=) rs2230204
NM_000064.4(C3):c.1725T>C (p.Pro575=)
NM_000064.4(C3):c.1758G>A (p.Glu586=) rs764201055
NM_000064.4(C3):c.1767C>T (p.His589=) rs775843240
NM_000064.4(C3):c.1819A>G (p.Lys607Glu) rs140637006
NM_000064.4(C3):c.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.2048-14_2048-13del rs140718871
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257
NM_000064.4(C3):c.2157G>A (p.Ala719=) rs143671993
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.2207G>A (p.Arg736Gln)
NM_000064.4(C3):c.2245+15G>A rs11569434
NM_000064.4(C3):c.2246-8C>T rs406514
NM_000064.4(C3):c.2390A>C (p.Asp797Ala)
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.2429C>T (p.Ser810Leu)
NM_000064.4(C3):c.2430G>A (p.Ser810=) rs2230207
NM_000064.4(C3):c.2441-6G>A
NM_000064.4(C3):c.2450T>A (p.Val817Glu) rs886054653
NM_000064.4(C3):c.2583+9C>T rs372400121
NM_000064.4(C3):c.2584G>T (p.Val862Leu)
NM_000064.4(C3):c.2617T>C (p.Cys873Arg)
NM_000064.4(C3):c.2646C>T (p.His882=)
NM_000064.4(C3):c.267+9A>G
NM_000064.4(C3):c.2670C>G (p.Pro890=)
NM_000064.4(C3):c.26T>C (p.Leu9Pro)
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.2793C>T (p.Val931=)
NM_000064.4(C3):c.2797-5C>T
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.2861G>A (p.Arg954His) rs139864704
NM_000064.4(C3):c.2863+15G>T
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.3024G>A (p.Ser1008=)
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro) rs750654763
NM_000064.4(C3):c.3391-4T>C
NM_000064.4(C3):c.3391-6T>C
NM_000064.4(C3):c.3391-8T>C
NM_000064.4(C3):c.3407A>G (p.Asn1136Ser)
NM_000064.4(C3):c.3411C>T (p.Asn1137=)
NM_000064.4(C3):c.3449C>G (p.Ser1150Trp)
NM_000064.4(C3):c.3586C>T (p.Leu1196=)
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.3793G>A (p.Gly1265Ser)
NM_000064.4(C3):c.3953T>G (p.Leu1318Arg)
NM_000064.4(C3):c.3970-15C>G
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.4121-4C>T
NM_000064.4(C3):c.4148C>A (p.Thr1383Asn) rs139100972
NM_000064.4(C3):c.4257G>A (p.Lys1419=)
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.4353C>G (p.Val1451=)
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.4471C>T (p.Arg1491Trp)
NM_000064.4(C3):c.4535G>A (p.Arg1512His) rs142868256
NM_000064.4(C3):c.453C>T (p.Thr151=)
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.4645C>T (p.Leu1549=) 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.4824C>T (p.Ser1608=) rs139457470
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.4878T>C (p.Thr1626=) rs1803223
NM_000064.4(C3):c.4896C>T (p.Pro1632=) rs17030
NM_000064.4(C3):c.48C>A (p.His16Gln)
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.681C>T (p.Tyr227=) rs756694755
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571
NM_000064.4(C3):c.763A>G (p.Ile255Val)
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.835G>A (p.Glu279Lys)
NM_000064.4(C3):c.912G>A (p.Arg304=) rs2230201
NM_000064.4(C3):c.928G>A (p.Gly310Arg)
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_000096.4(CP):c.*1007T>A
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.*259C>T
NM_000096.4(CP):c.*343A>G rs886058085
NM_000096.4(CP):c.*373C>G rs370247691
NM_000096.4(CP):c.*373C>T
NM_000096.4(CP):c.*40C>T
NM_000096.4(CP):c.*474T>C
NM_000096.4(CP):c.*509A>C rs13098532
NM_000096.4(CP):c.*536G>C
NM_000096.4(CP):c.*572A>G rs561191589
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.1037-3C>A rs754289834
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984
NM_000096.4(CP):c.1104G>C (p.Gly368=) rs142503847
NM_000096.4(CP):c.1131C>T (p.Ala377=)
NM_000096.4(CP):c.1191C>G (p.Asn397Lys) rs146229133
NM_000096.4(CP):c.1199C>A (p.Ala400Glu)
NM_000096.4(CP):c.1209-15T>A rs35465173
NM_000096.4(CP):c.1217C>A (p.Ala406Glu) rs147034302
NM_000096.4(CP):c.125A>G (p.Lys42Arg) rs886058090
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139
NM_000096.4(CP):c.1309A>G (p.Lys437Glu) rs764238637
NM_000096.4(CP):c.1348+9T>C rs35272481
NM_000096.4(CP):c.1349-13T>C rs17847017
NM_000096.4(CP):c.1357A>G (p.Ile453Val)
NM_000096.4(CP):c.1379C>T (p.Thr460Ile)
NM_000096.4(CP):c.1380C>T (p.Thr460=) rs149790356
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000096.4(CP):c.1478C>T (p.Pro493Leu)
NM_000096.4(CP):c.1493A>G (p.Gln498Arg) rs17847018
NM_000096.4(CP):c.151C>T (p.His51Tyr) rs150681942
NM_000096.4(CP):c.1575A>G (p.Val525=) rs760634973
NM_000096.4(CP):c.164A>G (p.Tyr55Cys) rs756029950
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458
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.1907T>C (p.Met636Thr)
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709
NM_000096.4(CP):c.1973T>C (p.Ile658Thr)
NM_000096.4(CP):c.199T>C (p.Tyr67His)
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949
NM_000096.4(CP):c.2180T>C (p.Phe727Ser) rs886058087
NM_000096.4(CP):c.2266C>A (p.His756Asn) rs773420516
NM_000096.4(CP):c.2268T>C (p.His756=)
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.2446G>A (p.Val816Ile) rs139058165
NM_000096.4(CP):c.2496C>T (p.Tyr832=)
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670
NM_000096.4(CP):c.2525A>G (p.Glu842Gly) rs149858116
NM_000096.4(CP):c.2554+14C>G rs200965170
NM_000096.4(CP):c.2554+8C>T
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.2571C>T (p.Tyr857=) rs151304828
NM_000096.4(CP):c.259C>T (p.Pro87Ser)
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771
NM_000096.4(CP):c.2621G>A (p.Cys874Tyr)
NM_000096.4(CP):c.2662-12T>C rs16861582
NM_000096.4(CP):c.2662-14T>C rs189155564
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000096.4(CP):c.2697T>C (p.Val899=) rs17847022
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997
NM_000096.4(CP):c.2878+12T>G
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.4(CP):c.2997C>T (p.His999=) rs147475926
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) rs187293972
NM_000096.4(CP):c.3006C>T (p.Ser1002=) rs199877380
NM_000096.4(CP):c.3130G>A (p.Asp1044Asn)
NM_000096.4(CP):c.3182-4A>G rs34272112
NM_000096.4(CP):c.3185C>A (p.Thr1062Asn)
NM_000096.4(CP):c.322C>T (p.His108Tyr) rs34386552
NM_000096.4(CP):c.347C>A (p.Pro116His) rs73866999
NM_000096.4(CP):c.508G>A (p.Gly170Arg) rs886058089
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.782-3C>T
NM_000096.4(CP):c.788A>G (p.Asn263Ser) rs150303869
NM_000096.4(CP):c.850T>C (p.Tyr284His) rs886058088
NM_000096.4(CP):c.921G>A (p.Lys307=) rs543777038
NM_000096.4(CP):c.936C>T (p.Asp312=)
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_000119.3(EPB42):c.*21T>A rs201342599
NM_000119.3(EPB42):c.-51T>C rs16957499
NM_000119.3(EPB42):c.100+1G>A rs150530456
NM_000119.3(EPB42):c.100+7G>A rs372291145
NM_000119.3(EPB42):c.1097G>A (p.Arg366Gln) rs374503872
NM_000119.3(EPB42):c.1115G>A (p.Gly372Asp) rs116484797
NM_000119.3(EPB42):c.1122T>C (p.Asp374=) rs150481419
NM_000119.3(EPB42):c.1167C>T (p.Val389=) rs768178069
NM_000119.3(EPB42):c.1255A>C (p.Ile419Leu) rs141596199
NM_000119.3(EPB42):c.1285T>C (p.Cys429Arg) rs751034626
NM_000119.3(EPB42):c.1310C>T (p.Thr437Ile) rs886051166
NM_000119.3(EPB42):c.1355G>T (p.Gly452Val) rs538781293
NM_000119.3(EPB42):c.1369C>T (p.Arg457Cys) rs45594632
NM_000119.3(EPB42):c.1408+4C>T rs45498491
NM_000119.3(EPB42):c.1476C>T (p.Asn492=) rs199505318
NM_000119.3(EPB42):c.1477G>A (p.Gly493Ser) rs148871144
NM_000119.3(EPB42):c.1699G>A (p.Ala567Thr) rs45495503
NM_000119.3(EPB42):c.1751G>A (p.Arg584Gln) rs150037117
NM_000119.3(EPB42):c.1772del (p.Phe591fs) rs775832353
NM_000119.3(EPB42):c.1857C>A (p.His619Gln) rs114354377
NM_000119.3(EPB42):c.2122A>G (p.Asn708Asp) rs201674874
NM_000119.3(EPB42):c.267G>A (p.Val89=) rs370961712
NM_000119.3(EPB42):c.29C>T (p.Ser10Leu) rs77809780
NM_000119.3(EPB42):c.300C>T (p.Ser100=) rs180830933
NM_000119.3(EPB42):c.420G>A (p.Ala140=) rs1042168
NM_000119.3(EPB42):c.436C>T (p.His146Tyr) rs886051169
NM_000119.3(EPB42):c.443C>T (p.Ser148Leu) rs200509497
NM_000119.3(EPB42):c.520+12C>T rs185794093
NM_000119.3(EPB42):c.543T>C (p.Asn181=) rs114136713
NM_000119.3(EPB42):c.70C>T (p.Pro24Ser) rs144428415
NM_000119.3(EPB42):c.744+7G>A rs72721553
NM_000119.3(EPB42):c.802G>C (p.Glu268Gln) rs886051168
NM_000119.3(EPB42):c.89G>A (p.Ser30Asn) rs149249456
NM_000119.3(EPB42):c.923-4A>G rs61343376
NM_000119.3(EPB42):c.984C>T (p.Thr328=) rs35719500
NM_000119.3(EPB42):c.991C>T (p.Arg331Cys) rs886051167
NM_000135.4(FANCA):c.*1011C>T rs17227452
NM_000135.4(FANCA):c.*1012A>G rs886052477
NM_000135.4(FANCA):c.*104G>A
NM_000135.4(FANCA):c.*109C>T
NM_000135.4(FANCA):c.*138T>A
NM_000135.4(FANCA):c.*144G>C
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.*172G>A
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.*42A>T
NM_000135.4(FANCA):c.*447T>C rs771942409
NM_000135.4(FANCA):c.*521C>T rs144644592
NM_000135.4(FANCA):c.*625C>T
NM_000135.4(FANCA):c.*654C>T rs17227438
NM_000135.4(FANCA):c.*670G>T
NM_000135.4(FANCA):c.*672G>C
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.1007-7C>G rs111271660
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286
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.1150G>T (p.Val384Phe)
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145
NM_000135.4(FANCA):c.1226-12G>C
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys) rs367733447
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000135.4(FANCA):c.1360-7C>T rs17232616
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val)
NM_000135.4(FANCA):c.1413C>T (p.Val471=) rs201561753
NM_000135.4(FANCA):c.1471-10C>G
NM_000135.4(FANCA):c.1471-12A>G rs9282684
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359
NM_000135.4(FANCA):c.1518C>T (p.Leu506=) rs781524409
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.1632C>A (p.His544Gln) rs553129361
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys) rs201323171
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu)
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293
NM_000135.4(FANCA):c.1738G>A (p.Val580Met)
NM_000135.4(FANCA):c.1753C>T (p.Pro585Ser)
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)
NM_000135.4(FANCA):c.1777-15C>G rs371919426
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val)
NM_000135.4(FANCA):c.1826+12C>T rs183513839
NM_000135.4(FANCA):c.1826+15T>C rs1800337
NM_000135.4(FANCA):c.1826+4T>A
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338
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+7G>A rs369985388
NM_000135.4(FANCA):c.18C>G (p.Val6=)
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.1901-9T>G rs886052486
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719
NM_000135.4(FANCA):c.2015-4G>T rs373954227
NM_000135.4(FANCA):c.2151+8T>C rs1800340
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.2152-13T>C
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.2218G>A (p.Glu740Lys)
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.4(FANCA):c.2316+9C>T rs776301232
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444
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.2589C>A (p.Gly863=) rs72807571
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2602-14A>C rs886052483
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) rs149435806
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130
NM_000135.4(FANCA):c.2778+10C>T rs371786839
NM_000135.4(FANCA):c.2779-7T>C rs17233253
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.4(FANCA):c.284-9G>C rs367672895
NM_000135.4(FANCA):c.2852+12A>T
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2880T>A (p.His960Gln)
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr) rs965036018
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.4(FANCA):c.3067-4T>C rs17227064
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr)
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3190A>G (p.Ser1064Gly)
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.3267C>T (p.Val1089=) rs994416299
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3349-3C>T rs373861415
NM_000135.4(FANCA):c.3352A>G (p.Asn1118Asp) rs371208490
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser)
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872
NM_000135.4(FANCA):c.3514-13G>A rs200270574
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=) rs886052482
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304
NM_000135.4(FANCA):c.3626+7G>A rs933657325
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr) rs886052481
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658
NM_000135.4(FANCA):c.3766-14G>A rs34476949
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=) rs886052480
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.3859G>T (p.Val1287Phe)
NM_000135.4(FANCA):c.386C>T (p.Ala129Val) rs577625130
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.3935-6T>C rs368376237
NM_000135.4(FANCA):c.3935-9G>A rs9282680
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966
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.3999C>T (p.Phe1333=) rs774576283
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.4(FANCA):c.4010+12C>T
NM_000135.4(FANCA):c.4016T>C (p.Leu1339Pro)
NM_000135.4(FANCA):c.402T>C (p.Pro134=) rs745666586
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp)
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=)
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270
NM_000135.4(FANCA):c.4128T>C (p.Val1376=)
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000135.4(FANCA):c.4261-9C>G rs368506826
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.4285G>A (p.Asp1429Asn)
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe) rs35566151
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
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.59G>A (p.Arg20Lys) rs376307136
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960
NM_000135.4(FANCA):c.610C>G (p.His204Asp)
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850
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.701T>C (p.Met234Thr) rs145869646
NM_000135.4(FANCA):c.710-12A>G rs1800286
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg) rs886052489
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.4(FANCA):c.793-9T>C rs757500718
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823
NM_000135.4(FANCA):c.80-13C>T rs189841793
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566
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.894-8A>G rs11648881
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000135.4(FANCA):c.953G>T (p.Arg318Met) rs72552377
NM_000136.3(FANCC):c.*1028C>T
NM_000136.3(FANCC):c.*1045C>T rs537983135
NM_000136.3(FANCC):c.*1059A>T
NM_000136.3(FANCC):c.*1096T>C
NM_000136.3(FANCC):c.*116A>C rs7048910
NM_000136.3(FANCC):c.*1197A>G
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.*1379C>G
NM_000136.3(FANCC):c.*143A>G rs189154697
NM_000136.3(FANCC):c.*1468C>T
NM_000136.3(FANCC):c.*1483T>C rs552548603
NM_000136.3(FANCC):c.*1495T>G rs41281198
NM_000136.3(FANCC):c.*1515C>T
NM_000136.3(FANCC):c.*1516A>G rs541816451
NM_000136.3(FANCC):c.*1649A>G
NM_000136.3(FANCC):c.*1662C>T
NM_000136.3(FANCC):c.*1675A>G
NM_000136.3(FANCC):c.*1727T>A
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.*1901C>T
NM_000136.3(FANCC):c.*1968G>A rs114827984
NM_000136.3(FANCC):c.*1976C>T
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.*213T>G
NM_000136.3(FANCC):c.*2164G>A
NM_000136.3(FANCC):c.*2164G>T
NM_000136.3(FANCC):c.*2246G>T
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.*2308G>A
NM_000136.3(FANCC):c.*2402G>C
NM_000136.3(FANCC):c.*249C>T rs1046795121
NM_000136.3(FANCC):c.*250G>A
NM_000136.3(FANCC):c.*2524G>A
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.*2564C>T
NM_000136.3(FANCC):c.*267G>A
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.*431T>C
NM_000136.3(FANCC):c.*450G>A rs149227790
NM_000136.3(FANCC):c.*476A>T
NM_000136.3(FANCC):c.*483A>G
NM_000136.3(FANCC):c.*516T>G rs1004604171
NM_000136.3(FANCC):c.*576C>T rs1057515701
NM_000136.3(FANCC):c.*577G>A
NM_000136.3(FANCC):c.*587C>T
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.*660C>T
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.*96A>G
NM_000136.3(FANCC):c.*97dup rs1057515705
NM_000136.3(FANCC):c.*983C>T rs56059656
NM_000136.3(FANCC):c.*984G>A
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.-79+5G>A rs4647350
NM_000136.3(FANCC):c.1073-5C>T rs375613884
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606
NM_000136.3(FANCC):c.1330-3C>T rs4647542
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367
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.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080
NM_000136.3(FANCC):c.1534-8G>A
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser) rs201379302
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys) rs55939573
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201
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.3G>A (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu) rs730881711
NM_000136.3(FANCC):c.456+4A>T rs104886456
NM_000136.3(FANCC):c.542C>T (p.Ala181Val) rs182879858
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.672C>T (p.Asn224=) rs150647141
NM_000136.3(FANCC):c.700C>G (p.Leu234Val)
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
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.843+4C>T rs4647506
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189
NM_000178.4(GSS):c.*181C>T rs773689812
NM_000178.4(GSS):c.*183C>T
NM_000178.4(GSS):c.*185C>T
NM_000178.4(GSS):c.*20G>C
NM_000178.4(GSS):c.*2G>A rs36000727
NM_000178.4(GSS):c.*31C>T
NM_000178.4(GSS):c.*323G>A
NM_000178.4(GSS):c.*390G>T rs886056639
NM_000178.4(GSS):c.*391A>T rs886056638
NM_000178.4(GSS):c.*68G>T
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.-45G>C
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.1121T>G (p.Leu374Arg)
NM_000178.4(GSS):c.1126G>A (p.Gly376Arg)
NM_000178.4(GSS):c.1158G>A (p.Leu386=) rs141866304
NM_000178.4(GSS):c.1186A>G (p.Ile396Val) rs771438550
NM_000178.4(GSS):c.1203C>T (p.Ile401=) rs138574949
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln) rs150141794
NM_000178.4(GSS):c.1260C>G (p.Val420=) rs369657861
NM_000178.4(GSS):c.448G>A (p.Ala150Thr) rs549377370
NM_000178.4(GSS):c.491G>A (p.Arg164Gln) rs121909307
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000178.4(GSS):c.602C>T (p.Ser201Leu)
NM_000178.4(GSS):c.754C>T (p.Arg252Ter) rs749741013
NM_000178.4(GSS):c.768-3C>T rs184506175
NM_000178.4(GSS):c.787G>A (p.Val263Met)
NM_000178.4(GSS):c.816T>G (p.Pro272=) rs35051256
NM_000178.4(GSS):c.834+4G>C rs201359061
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000178.4(GSS):c.957G>A (p.Met319Ile) rs202181009
NM_000178.4(GSS):c.988C>T (p.Arg330Cys)
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.1160-15T>C rs34815383
NM_000186.3(CFH):c.1204C>T (p.His402Tyr) rs1061170
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.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.245-7G>A rs35814900
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.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.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.3028G>A (p.Ala1010Thr) rs11539862
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+4C>G rs374729595
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.3628C>T (p.Arg1210Cys) rs121913059
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.770G>A (p.Arg257His) rs140107330
NM_000186.3(CFH):c.921A>C (p.Ala307=) rs1061147
NM_000186.4(CFH):c.*127G>T
NM_000186.4(CFH):c.1418C>T (p.Ala473Val)
NM_000186.4(CFH):c.1451C>T (p.Ala484Val)
NM_000186.4(CFH):c.16A>G (p.Lys6Glu)
NM_000186.4(CFH):c.172T>G (p.Ser58Ala)
NM_000186.4(CFH):c.1984A>G (p.Arg662Gly)
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu)
NM_000186.4(CFH):c.2314G>A (p.Asp772Asn)
NM_000186.4(CFH):c.2424A>G (p.Ile808Met)
NM_000186.4(CFH):c.245-15T>C
NM_000186.4(CFH):c.2596+8G>T
NM_000186.4(CFH):c.2763T>C (p.Ser921=)
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser)
NM_000186.4(CFH):c.2956+13G>A
NM_000186.4(CFH):c.3134-5T>C
NM_000186.4(CFH):c.3156C>T (p.Pro1052=)
NM_000186.4(CFH):c.3291G>A (p.Thr1097=)
NM_000186.4(CFH):c.33G>T (p.Met11Ile)
NM_000186.4(CFH):c.7C>G (p.Leu3Val)
NM_000186.4(CFH):c.879G>A (p.Gln293=)
NM_000186.4(CFH):c.907C>T (p.Arg303Trp)
NM_000204.4(CFI):c.*112C>T rs551
NM_000204.4(CFI):c.*144T>C rs77449037
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.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.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.1581C>T (p.Gly527=) rs181378677
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.209A>C (p.Asn70Thr) rs749553820
NM_000204.4(CFI):c.309C>T (p.Asn103=) rs761425840
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.405T>C (p.Asp135=) rs375792874
NM_000204.4(CFI):c.454G>A (p.Val152Met) rs367677199
NM_000204.4(CFI):c.482+14T>A rs76014294
NM_000204.4(CFI):c.482+6C>A rs79375065
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_000204.5(CFI):c.148C>G (p.Pro50Ala)
NM_000204.5(CFI):c.1534+5G>T rs114013791
NM_000204.5(CFI):c.1A>G (p.Met1Val)
NM_000204.5(CFI):c.373G>C (p.Gly125Arg)
NM_000204.5(CFI):c.424A>C (p.Lys142Gln)
NM_000204.5(CFI):c.560G>A (p.Arg187Gln)
NM_000204.5(CFI):c.57+4A>G
NM_000204.5(CFI):c.57+9T>C
NM_000204.5(CFI):c.603A>C (p.Arg201Ser)
NM_000204.5(CFI):c.60C>T (p.Val20=)
NM_000204.5(CFI):c.719C>G (p.Ala240Gly)
NM_000204.5(CFI):c.781G>A (p.Gly261Ser)
NM_000204.5(CFI):c.91A>C (p.Lys31Gln)
NM_000204.5(CFI):c.950G>A (p.Arg317Gln)
NM_000229.2(LCAT):c.*12T>C rs886052219
NM_000229.2(LCAT):c.1039C>T (p.Arg347Cys) rs202017590
NM_000229.2(LCAT):c.1083G>A (p.Val361=)
NM_000229.2(LCAT):c.1113G>A (p.Thr371=)
NM_000229.2(LCAT):c.1118C>T (p.Ala373Val)
NM_000229.2(LCAT):c.1173G>A (p.Val391=)
NM_000229.2(LCAT):c.1177C>T (p.Leu393=) rs5923
NM_000229.2(LCAT):c.159C>T (p.Pro53=) rs556480808
NM_000229.2(LCAT):c.340G>A (p.Val114Met)
NM_000229.2(LCAT):c.367C>T (p.Arg123Cys) rs140068549
NM_000229.2(LCAT):c.382G>A (p.Gly128Ser)
NM_000229.2(LCAT):c.428-4A>G
NM_000229.2(LCAT):c.465T>C (p.Asn155=)
NM_000229.2(LCAT):c.475C>A (p.Arg159=)
NM_000229.2(LCAT):c.481G>A (p.Glu161Lys)
NM_000229.2(LCAT):c.495C>T (p.Ala165=)
NM_000229.2(LCAT):c.534G>T (p.Glu178Asp) rs886052220
NM_000229.2(LCAT):c.552C>T (p.Leu184=)
NM_000229.2(LCAT):c.597C>T (p.Val199=)
NM_000229.2(LCAT):c.618C>T (p.Leu206=)
NM_000229.2(LCAT):c.694T>A (p.Ser232Thr)
NM_000229.2(LCAT):c.748+13C>G rs750086555
NM_000229.2(LCAT):c.861C>T (p.His287=)
NM_000229.2(LCAT):c.981A>C (p.Gly327=) rs139453193
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>T (p.Ala339Val) rs137956833
NM_000253.3(MTTP):c.1023A>G (p.Lys341=) rs145724674
NM_000253.3(MTTP):c.111G>A (p.Thr37=) rs147921439
NM_000253.3(MTTP):c.1151A>C (p.Asp384Ala) rs17029215
NM_000253.3(MTTP):c.124G>A (p.Val42Ile) rs756998920
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.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.1888A>G (p.Thr630Ala) rs368679444
NM_000253.3(MTTP):c.1981G>A (p.Gly661Ser) rs113337987
NM_000253.3(MTTP):c.2025C>T (p.Ile675=) rs79023226
NM_000253.3(MTTP):c.2041G>A (p.Glu681Lys) rs886058958
NM_000253.3(MTTP):c.2043G>A (p.Glu681=) rs145444300
NM_000253.3(MTTP):c.2167G>A (p.Asp723Asn) rs371023325
NM_000253.3(MTTP):c.2433G>C (p.Leu811Phe) rs144590904
NM_000253.3(MTTP):c.2513+13G>A rs148073215
NM_000253.3(MTTP):c.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.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.419A>G (p.Asn140Ser) rs61733140
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.660T>C (p.Tyr220=) rs113557405
NM_000253.3(MTTP):c.695C>T (p.Ala232Val) rs748108500
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.915G>A (p.Ser305=) rs199716549
NM_000253.3(MTTP):c.933C>A (p.Thr311=) rs17029213
NM_000253.3(MTTP):c.969T>C (p.Ala323=) rs17533489
NM_000253.3(MTTP):c.972G>A (p.Glu324=) rs146953015
NM_000253.4(MTTP):c.*1003T>C
NM_000253.4(MTTP):c.*1018G>A
NM_000253.4(MTTP):c.*113G>C
NM_000253.4(MTTP):c.*184G>A
NM_000253.4(MTTP):c.*219G>A
NM_000253.4(MTTP):c.*267A>C
NM_000253.4(MTTP):c.*434G>A
NM_000253.4(MTTP):c.*436A>G
NM_000253.4(MTTP):c.*468A>C
NM_000253.4(MTTP):c.*474T>C
NM_000253.4(MTTP):c.*515G>A
NM_000253.4(MTTP):c.*588A>G
NM_000253.4(MTTP):c.*668A>G
NM_000253.4(MTTP):c.*796C>T
NM_000253.4(MTTP):c.*826T>C
NM_000253.4(MTTP):c.-20G>A
NM_000253.4(MTTP):c.110C>T (p.Thr37Met)
NM_000253.4(MTTP):c.1136T>C (p.Leu379Ser)
NM_000253.4(MTTP):c.159C>A (p.Asp53Glu)
NM_000253.4(MTTP):c.1769+12T>C
NM_000253.4(MTTP):c.2195T>C (p.Ile732Thr)
NM_000253.4(MTTP):c.2320T>G (p.Ser774Ala)
NM_000253.4(MTTP):c.393+11G>A
NM_000253.4(MTTP):c.502-12C>T
NM_000253.4(MTTP):c.52T>A (p.Ser18Thr)
NM_000253.4(MTTP):c.756G>A (p.Ser252=)
NM_000253.4(MTTP):c.782C>G (p.Thr261Ser)
NM_000253.4(MTTP):c.791G>A (p.Gly264Asp)
NM_000253.4(MTTP):c.927G>A (p.Arg309=)
NM_000289.6(PFKM):c.*134G>A rs886049456
NM_000289.6(PFKM):c.*163G>A
NM_000289.6(PFKM):c.*282C>T
NM_000289.6(PFKM):c.*3C>T rs367783282
NM_000289.6(PFKM):c.*411G>A
NM_000289.6(PFKM):c.*452T>C
NM_000289.6(PFKM):c.*489T>A rs886049457
NM_000289.6(PFKM):c.*503G>T rs747797192
NM_000289.6(PFKM):c.*532A>G
NM_000289.6(PFKM):c.*564G>A
NM_000289.6(PFKM):c.*622G>A rs568063197
NM_000289.6(PFKM):c.*668G>T
NM_000289.6(PFKM):c.*98G>A rs886049455
NM_000289.6(PFKM):c.-17G>C
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) rs762357629
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928
NM_000289.6(PFKM):c.1342-14G>T rs56117548
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg)
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.2093-14A>G rs11168427
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) rs370046842
NM_000289.6(PFKM):c.2199-12A>G rs202008060
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501
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.360C>T (p.Gly120=) rs886049453
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala)
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543
NM_000289.6(PFKM):c.638+15C>A rs376150217
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
NM_000289.6(PFKM):c.965T>C (p.Met322Thr)
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.*1105G>A
NM_000298.6(PKLR):c.*1277G>A
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000298.6(PKLR):c.*13T>G rs1052177
NM_000298.6(PKLR):c.*14C>G
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.*356T>C
NM_000298.6(PKLR):c.*499G>A rs777573500
NM_000298.6(PKLR):c.*500C>T
NM_000298.6(PKLR):c.*582G>A rs758139094
NM_000298.6(PKLR):c.*735A>G
NM_000298.6(PKLR):c.*755T>C
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.-31G>A
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp) rs765903674
NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu)
NM_000298.6(PKLR):c.1117-13C>T
NM_000298.6(PKLR):c.1117-4C>G
NM_000298.6(PKLR):c.111G>T (p.Gly37=) rs141341788
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp) rs375189218
NM_000298.6(PKLR):c.122G>A (p.Arg41Gln)
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val) rs756549612
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp)
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) rs146708702
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln)
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp) rs200133000
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys)
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.1706G>A (p.Arg569Gln)
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.375+10G>T
NM_000298.6(PKLR):c.376-11C>G
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000298.6(PKLR):c.491C>A (p.Thr164Asn)
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp)
NM_000298.6(PKLR):c.507+14C>A
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.731G>A (p.Gly244Asp)
NM_000298.6(PKLR):c.790C>T (p.Leu264=) rs199959447
NM_000298.6(PKLR):c.805G>T (p.Val269Phe)
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373
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.92C>T (p.Ala31Val)
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys) rs1557959063
NM_000298.6(PKLR):c.965+12G>A rs200039500
NM_000298.6(PKLR):c.966-12C>T
NM_000298.6(PKLR):c.966G>T (p.Arg322Ser)
NM_000298.6(PKLR):c.972T>C (p.Asp324=)
NM_000342.3(SLC4A1):c.-62G>A rs387906565
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000342.4(SLC4A1):c.*1032C>T
NM_000342.4(SLC4A1):c.*1047T>C
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.*1305G>A
NM_000342.4(SLC4A1):c.*1316C>T rs886052991
NM_000342.4(SLC4A1):c.*135G>A rs566741511
NM_000342.4(SLC4A1):c.*1393A>T
NM_000342.4(SLC4A1):c.*1409T>C
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.*1609C>T
NM_000342.4(SLC4A1):c.*1676A>G rs745898810
NM_000342.4(SLC4A1):c.*1693G>A
NM_000342.4(SLC4A1):c.*1721G>A rs62078947
NM_000342.4(SLC4A1):c.*1766C>T
NM_000342.4(SLC4A1):c.*1791C>T
NM_000342.4(SLC4A1):c.*1792G>A
NM_000342.4(SLC4A1):c.*1832G>A rs886052988
NM_000342.4(SLC4A1):c.*1933G>A
NM_000342.4(SLC4A1):c.*265A>C
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.*353G>C
NM_000342.4(SLC4A1):c.*356G>C
NM_000342.4(SLC4A1):c.*408C>T rs45555735
NM_000342.4(SLC4A1):c.*431T>C
NM_000342.4(SLC4A1):c.*544C>T
NM_000342.4(SLC4A1):c.*54A>G
NM_000342.4(SLC4A1):c.*5C>T
NM_000342.4(SLC4A1):c.*624G>A
NM_000342.4(SLC4A1):c.*649G>A
NM_000342.4(SLC4A1):c.*701C>G
NM_000342.4(SLC4A1):c.*745G>A
NM_000342.4(SLC4A1):c.*753C>T
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.*936G>T
NM_000342.4(SLC4A1):c.*947C>G rs368389948
NM_000342.4(SLC4A1):c.*977G>A rs886052993
NM_000342.4(SLC4A1):c.*984T>G
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.-59G>T
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.1151G>A (p.Arg384His)
NM_000342.4(SLC4A1):c.1179C>T (p.Tyr393=)
NM_000342.4(SLC4A1):c.1202T>G (p.Phe401Cys)
NM_000342.4(SLC4A1):c.1225G>A (p.Val409Ile) rs201821517
NM_000342.4(SLC4A1):c.1239C>T (p.Tyr413=) rs5014
NM_000342.4(SLC4A1):c.1249C>T (p.Leu417=) rs5015
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr)
NM_000342.4(SLC4A1):c.1314G>A (p.Ser438=) rs13306781
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.1471G>A (p.Val491Met)
NM_000342.4(SLC4A1):c.16-14G>A rs145502796
NM_000342.4(SLC4A1):c.1626+7G>A
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.1671G>A (p.Val557=)
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys) rs368863744
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=) rs35807245
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=) rs5020
NM_000342.4(SLC4A1):c.1928C>T (p.Ser643Phe)
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757
NM_000342.4(SLC4A1):c.1953C>T (p.His651=) rs5021
NM_000342.4(SLC4A1):c.1971C>T (p.Ser657=)
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670
NM_000342.4(SLC4A1):c.2019G>A (p.Leu673=)
NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys) rs13306787
NM_000342.4(SLC4A1):c.2100C>T (p.Ser700=) rs5024
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788
NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=) rs754017629
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.2401A>C (p.Ser801Arg)
NM_000342.4(SLC4A1):c.2482-9C>T rs886052995
NM_000342.4(SLC4A1):c.2547G>A (p.Val849=)
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644
NM_000342.4(SLC4A1):c.2584G>A (p.Val862Ile) rs5026
NM_000342.4(SLC4A1):c.2586C>A (p.Val862=)
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759
NM_000342.4(SLC4A1):c.261C>A (p.Asn87Lys)
NM_000342.4(SLC4A1):c.2625G>A (p.Pro875=)
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.2716G>C (p.Glu906Gln)
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.319C>T (p.Leu107Phe)
NM_000342.4(SLC4A1):c.344C>T (p.Thr115Ile)
NM_000342.4(SLC4A1):c.349+15C>G
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032
NM_000342.4(SLC4A1):c.486-10C>T
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654
NM_000342.4(SLC4A1):c.567C>G (p.Leu189=)
NM_000342.4(SLC4A1):c.615T>C (p.Asp205=)
NM_000342.4(SLC4A1):c.636A>G (p.Ser212=) rs886053000
NM_000342.4(SLC4A1):c.672A>G (p.Ser224=)
NM_000342.4(SLC4A1):c.697C>G (p.Arg233Gly) rs779054292
NM_000342.4(SLC4A1):c.697C>T (p.Arg233Cys)
NM_000342.4(SLC4A1):c.706T>G (p.Phe236Val)
NM_000342.4(SLC4A1):c.719C>T (p.Pro240Leu)
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645
NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val)
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_000342.4(SLC4A1):c.92T>C (p.Met31Thr) rs55773290
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.*173C>T
NM_000355.4(TCN2):c.*18C>T
NM_000355.4(TCN2):c.*209G>C rs146450057
NM_000355.4(TCN2):c.*225A>T rs2072195
NM_000355.4(TCN2):c.*283C>G
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.*329G>A
NM_000355.4(TCN2):c.*37C>T
NM_000355.4(TCN2):c.*381T>G rs149713328
NM_000355.4(TCN2):c.*382C>T rs56076607
NM_000355.4(TCN2):c.*383C>T
NM_000355.4(TCN2):c.*405T>C
NM_000355.4(TCN2):c.*415T>G
NM_000355.4(TCN2):c.*444C>T rs10418
NM_000355.4(TCN2):c.*520T>C
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.-67C>T
NM_000355.4(TCN2):c.-6G>A
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.1058C>G (p.Ser353Cys) rs539987014
NM_000355.4(TCN2):c.1063G>A (p.Val355Met)
NM_000355.4(TCN2):c.1092G>A (p.Glu364=) rs886057397
NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser) rs1131603
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly) rs148963479
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551
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.353T>C (p.Phe118Ser) rs199728304
NM_000355.4(TCN2):c.360G>A (p.Arg120=) rs115272037
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp) rs886057396
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.522C>T (p.Ser174=) rs537115632
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153
NM_000355.4(TCN2):c.529G>A (p.Asp177Asn)
NM_000355.4(TCN2):c.547G>A (p.Val183Met) rs201925682
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu) rs146009793
NM_000355.4(TCN2):c.559C>T (p.His187Tyr)
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000355.4(TCN2):c.581-4C>T
NM_000355.4(TCN2):c.581-8A>C rs7290898
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000355.4(TCN2):c.581-8A>T rs7290898
NM_000355.4(TCN2):c.623G>A (p.Arg208His) rs150472705
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.67A>G (p.Ile23Val) rs9606756
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198
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.877C>T (p.Leu293=) rs45624233
NM_000355.4(TCN2):c.882C>T (p.Pro294=) rs142689742
NM_000355.4(TCN2):c.899C>T (p.Thr300Ile)
NM_000355.4(TCN2):c.903C>T (p.Tyr301=) rs146036025
NM_000355.4(TCN2):c.905T>C (p.Ile302Thr)
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105
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.-151G>T rs16984852
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.1502C>T (p.Pro501Leu) rs1800579
NM_000361.2(THBD):c.1528G>A (p.Val510Met) rs555537779
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.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_000361.3(THBD):c.*1011C>A
NM_000361.3(THBD):c.*1104A>C
NM_000361.3(THBD):c.*1271G>T
NM_000361.3(THBD):c.*1505C>G
NM_000361.3(THBD):c.*1519G>C
NM_000361.3(THBD):c.*169G>A
NM_000361.3(THBD):c.*1845G>T
NM_000361.3(THBD):c.*1G>T
NM_000361.3(THBD):c.*230T>G
NM_000361.3(THBD):c.*27C>T
NM_000361.3(THBD):c.*509C>T
NM_000361.3(THBD):c.*511T>G
NM_000361.3(THBD):c.*775G>C
NM_000361.3(THBD):c.1205A>G (p.His402Arg)
NM_000361.3(THBD):c.1504G>C (p.Gly502Arg) rs76135678
NM_000361.3(THBD):c.1577T>C (p.Leu526Pro)
NM_000361.3(THBD):c.15G>T (p.Leu5=)
NM_000361.3(THBD):c.1674C>G (p.Ser558=)
NM_000361.3(THBD):c.1700G>A (p.Arg567Gln)
NM_000361.3(THBD):c.282C>G (p.Pro94=) rs538290084
NM_000361.3(THBD):c.302G>C (p.Arg101Pro)
NM_000361.3(THBD):c.347A>C (p.Asn116Thr)
NM_000361.3(THBD):c.543G>A (p.Glu181=)
NM_000361.3(THBD):c.72G>A (p.Gln24=)
NM_000361.3(THBD):c.885C>T (p.Phe295=)
NM_000361.3(THBD):c.897C>T (p.Asn299=)
NM_000361.3(THBD):c.898C>A (p.Pro300Thr)
NM_000361.3(THBD):c.965G>T (p.Arg322Leu)
NM_000365.6(TPI1):c.*134C>A
NM_000365.6(TPI1):c.*173G>A
NM_000365.6(TPI1):c.*178G>A rs144171030
NM_000365.6(TPI1):c.*219C>T
NM_000365.6(TPI1):c.*239C>T rs886049811
NM_000365.6(TPI1):c.*253G>T
NM_000365.6(TPI1):c.*260G>A rs782764628
NM_000365.6(TPI1):c.*341C>T rs1804544
NM_000365.6(TPI1):c.*388C>T
NM_000365.6(TPI1):c.*39G>A
NM_000365.6(TPI1):c.*420T>C rs58194764
NM_000365.6(TPI1):c.*519T>C
NM_000365.6(TPI1):c.*520T>C
NM_000365.6(TPI1):c.*541dup rs201871949
NM_000365.6(TPI1):c.*542_*544del rs782559646
NM_000365.6(TPI1):c.*549A>G
NM_000365.6(TPI1):c.*69C>T rs782061169
NM_000365.6(TPI1):c.-11G>A rs199634350
NM_000365.6(TPI1):c.-29C>T rs181882616
NM_000365.6(TPI1):c.-31C>T
NM_000365.6(TPI1):c.116-13A>G
NM_000365.6(TPI1):c.192G>A (p.Ala64=)
NM_000365.6(TPI1):c.1A>G (p.Met1Val)
NM_000365.6(TPI1):c.239+8C>A rs782359362
NM_000365.6(TPI1):c.261C>T (p.Cys87=) rs370863694
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845
NM_000365.6(TPI1):c.321T>C (p.Asp107=) rs141972556
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849
NM_000365.6(TPI1):c.543+5C>G rs782153322
NM_000365.6(TPI1):c.543+6C>T rs369693539
NM_000365.6(TPI1):c.544-10C>G rs115061797
NM_000365.6(TPI1):c.544-14G>A rs72661109
NM_000365.6(TPI1):c.558C>T (p.His186=)
NM_000365.6(TPI1):c.599C>T (p.Ala200Val)
NM_000365.6(TPI1):c.600G>A (p.Ala200=) rs61747602
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309
NM_000365.6(TPI1):c.631+13G>A rs60115912
NM_000365.6(TPI1):c.737A>G (p.Asn246Ser)
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_000373.4(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.*1100C>T
NM_000373.4(UMPS):c.*1128G>T
NM_000373.4(UMPS):c.*1153C>T rs768119744
NM_000373.4(UMPS):c.*1155T>C rs112368493
NM_000373.4(UMPS):c.*1192C>T
NM_000373.4(UMPS):c.*1211C>A rs11706118
NM_000373.4(UMPS):c.*1249C>G
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.*1843A>C
NM_000373.4(UMPS):c.*1853G>A
NM_000373.4(UMPS):c.*1902G>A rs147465900
NM_000373.4(UMPS):c.*1931G>A
NM_000373.4(UMPS):c.*2035C>T
NM_000373.4(UMPS):c.*2036A>T
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.*2197A>G
NM_000373.4(UMPS):c.*2202del rs397844102
NM_000373.4(UMPS):c.*2230C>T rs565272396
NM_000373.4(UMPS):c.*2231G>A
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.*2552A>G
NM_000373.4(UMPS):c.*255T>C
NM_000373.4(UMPS):c.*2605G>A rs554810943
NM_000373.4(UMPS):c.*2614G>A rs4677940
NM_000373.4(UMPS):c.*2631C>G
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.*2711G>A
NM_000373.4(UMPS):c.*2715_*2718del rs886057884
NM_000373.4(UMPS):c.*2716T>C rs886057885
NM_000373.4(UMPS):c.*2718C>T
NM_000373.4(UMPS):c.*2741C>T
NM_000373.4(UMPS):c.*274C>T
NM_000373.4(UMPS):c.*2783C>T
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.*3020G>A
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.*3326C>T
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.*348C>T
NM_000373.4(UMPS):c.*3494G>A
NM_000373.4(UMPS):c.*3495T>C rs886057891
NM_000373.4(UMPS):c.*3512C>G
NM_000373.4(UMPS):c.*3537G>A rs606369
NM_000373.4(UMPS):c.*3589C>T rs10934685
NM_000373.4(UMPS):c.*3594A>G
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.*3785C>G
NM_000373.4(UMPS):c.*37C>T
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.*4119T>C
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.*4432A>G
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.*4570C>T
NM_000373.4(UMPS):c.*4623C>T
NM_000373.4(UMPS):c.*4638G>A
NM_000373.4(UMPS):c.*4672C>T
NM_000373.4(UMPS):c.*4693G>A
NM_000373.4(UMPS):c.*469C>T
NM_000373.4(UMPS):c.*4717C>T rs117624716
NM_000373.4(UMPS):c.*4739G>T
NM_000373.4(UMPS):c.*4755G>A rs189776179
NM_000373.4(UMPS):c.*4765_*4767del rs886057897
NM_000373.4(UMPS):c.*4782G>A
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.*4934A>G
NM_000373.4(UMPS):c.*5014C>T rs569469184
NM_000373.4(UMPS):c.*5027A>G rs886057899
NM_000373.4(UMPS):c.*5085C>A
NM_000373.4(UMPS):c.*5120_*5124del rs556352266
NM_000373.4(UMPS):c.*5133del rs886057901
NM_000373.4(UMPS):c.*516A>G
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.*882G>C
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.1052T>C (p.Val351Ala)
NM_000373.4(UMPS):c.105C>T (p.Pro35=)
NM_000373.4(UMPS):c.1088G>A (p.Arg363Gln)
NM_000373.4(UMPS):c.1117T>G (p.Ser373Ala)
NM_000373.4(UMPS):c.1157C>T (p.Ala386Val) rs202158549
NM_000373.4(UMPS):c.1158+10G>C
NM_000373.4(UMPS):c.1158G>A (p.Ala386=)
NM_000373.4(UMPS):c.1273+14C>T rs374339942
NM_000373.4(UMPS):c.1290A>G (p.Gln430=) rs17843847
NM_000373.4(UMPS):c.1316T>C (p.Ile439Thr)
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.385G>T (p.Gly129Ter) rs747405574
NM_000373.4(UMPS):c.441T>C (p.Thr147=) rs886057871
NM_000373.4(UMPS):c.495G>A (p.Ala165=) rs75971351
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019
NM_000373.4(UMPS):c.768A>G (p.Leu256=) rs780392037
NM_000373.4(UMPS):c.799T>C (p.Leu267=)
NM_000373.4(UMPS):c.811G>C (p.Asp271His)
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_000375.3(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.*56T>C
NM_000375.3(UROS):c.*92T>G
NM_000375.3(UROS):c.*96G>A
NM_000375.3(UROS):c.*99A>G rs886046814
NM_000375.3(UROS):c.-134C>A
NM_000375.3(UROS):c.-136C>T rs539482783
NM_000375.3(UROS):c.-185G>A rs4256900
NM_000375.3(UROS):c.-195C>A
NM_000375.3(UROS):c.-219C>A rs4385801
NM_000375.3(UROS):c.-224C>T
NM_000375.3(UROS):c.-232G>A rs886046815
NM_000375.3(UROS):c.-27+10G>A rs376517536
NM_000375.3(UROS):c.-31G>T rs73381212
NM_000375.3(UROS):c.106T>G (p.Leu36Val)
NM_000375.3(UROS):c.169G>A (p.Gly57Arg)
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016
NM_000375.3(UROS):c.251A>C (p.Glu84Ala) rs763606042
NM_000375.3(UROS):c.27G>A (p.Ala9=) rs150059279
NM_000375.3(UROS):c.327A>C (p.Lys109Asn) rs369561042
NM_000375.3(UROS):c.338A>T (p.Asp113Val) rs117926090
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.53C>T (p.Pro18Leu)
NM_000375.3(UROS):c.63+8G>A rs17153575
NM_000375.3(UROS):c.691G>A (p.Ala231Thr) rs780837512
NM_000375.3(UROS):c.740C>T (p.Thr247Met)
NM_000384.3(APOB):c.*207C>A rs886055566
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr) rs141982176
NM_000384.3(APOB):c.11466G>A (p.Val3822=) rs755842633
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val) rs762255105
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys) rs373477107
NM_000384.3(APOB):c.12088-23dup rs751121092
NM_000384.3(APOB):c.12219C>T (p.Asn4073=) rs886055573
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys) rs886055572
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser) rs151333262
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys) rs886055571
NM_000384.3(APOB):c.1470+15T>C rs185550846
NM_000384.3(APOB):c.2160C>T (p.Tyr720=) rs756184175
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys) rs143425834
NM_000384.3(APOB):c.2728G>T (p.Gly910Cys) rs747610107
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347
NM_000384.3(APOB):c.2917C>A (p.Leu973Met) rs886055592
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn) rs375894411
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile) rs72653078
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079
NM_000384.3(APOB):c.4216+4A>G rs886055588
NM_000384.3(APOB):c.4929G>A (p.Ala1643=) rs200623857
NM_000384.3(APOB):c.5763A>G (p.Gly1921=) rs141022509
NM_000384.3(APOB):c.5913G>A (p.Leu1971=) rs374251542
NM_000384.3(APOB):c.6656G>A (p.Arg2219His) rs200106845
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_000384.3(APOB):c.7181T>C (p.Val2394Ala) rs148429884
NM_000384.3(APOB):c.7405T>A (p.Phe2469Ile) rs768221258
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys) rs747140161
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000518.5(HBB):c.*18C>A
NM_000518.5(HBB):c.*53C>A rs886048393
NM_000518.5(HBB):c.*56A>T rs537944366
NM_000518.5(HBB):c.*59A>G
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.-31C>T rs63750628
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.85C>T (p.Leu29=)
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040
NM_000519.3(HBD):c.-180A>G rs186432678
NM_000519.3(HBD):c.-60A>T rs112372029
NM_000519.3(HBD):c.-62C>T rs144322869
NM_000519.4(HBD):c.*59C>G rs755421119
NM_000519.4(HBD):c.*65T>C
NM_000519.4(HBD):c.*91G>A rs886048394
NM_000519.4(HBD):c.*96G>T
NM_000519.4(HBD):c.225C>T (p.Gly75=) rs113727122
NM_000519.4(HBD):c.60C>T (p.Asn20=)
NM_000519.4(HBD):c.6G>A (p.Val2=)
NM_000519.4(HBD):c.76G>A (p.Gly26Ser) rs886048395
NM_000519.4(HBD):c.82G>T (p.Ala28Ser) rs35152987
NM_000519.4(HBD):c.83C>A (p.Ala28Asp)
NM_000519.4(HBD):c.97C>T (p.Leu33=)
NM_000617.3(SLC11A2):c.-110G>T rs6580779
NM_000617.3(SLC11A2):c.-38-3C>T rs886049569
NM_000617.3(SLC11A2):c.-39+12G>A
NM_000617.3(SLC11A2):c.-39+5G>C
NM_000617.3(SLC11A2):c.-39G>A rs751410203
NM_000617.3(SLC11A2):c.-50G>A rs886049570
NM_000617.3(SLC11A2):c.-78G>A rs2301528
NM_000617.3(SLC11A2):c.-96C>T
NM_000617.3(SLC11A2):c.1032C>G (p.Leu344=) rs370750890
NM_000617.3(SLC11A2):c.1049C>T (p.Ser350Leu)
NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp) rs121918365
NM_000617.3(SLC11A2):c.1206G>A (p.Leu402=) rs761054843
NM_000617.3(SLC11A2):c.1254T>C (p.Ile418=) rs1048230
NM_000617.3(SLC11A2):c.1258A>G (p.Ile420Val) rs148582995
NM_000617.3(SLC11A2):c.1303C>A (p.Leu435Ile)
NM_000617.3(SLC11A2):c.1348-10T>C rs189993499
NM_000617.3(SLC11A2):c.1421+8T>A rs886049566
NM_000617.3(SLC11A2):c.1425C>T (p.Gly475=) rs139057918
NM_000617.3(SLC11A2):c.1511A>G (p.His504Arg)
NM_000617.3(SLC11A2):c.1576-14A>G rs161044
NM_000617.3(SLC11A2):c.1576-7C>G
NM_000617.3(SLC11A2):c.1584A>G (p.Gln528=) rs761505350
NM_000617.3(SLC11A2):c.1596A>C (p.Ala532=) rs760783598
NM_000617.3(SLC11A2):c.15T>C (p.Pro5=)
NM_000617.3(SLC11A2):c.1655C>T (p.Thr552Ile)
NM_000617.3(SLC11A2):c.1663G>A (p.Ala555Thr) rs550969378
NM_000617.3(SLC11A2):c.184T>C (p.Tyr62His)
NM_000617.3(SLC11A2):c.197G>A (p.Ser66Asn) rs141728916
NM_000617.3(SLC11A2):c.255G>T (p.Leu85=)
NM_000617.3(SLC11A2):c.290G>C (p.Gly97Ala)
NM_000617.3(SLC11A2):c.34+11G>A rs427020
NM_000617.3(SLC11A2):c.34+6T>G
NM_000617.3(SLC11A2):c.436C>G (p.Arg146Gly) rs774857007
NM_000617.3(SLC11A2):c.504A>G (p.Ser168=) rs145155499
NM_000617.3(SLC11A2):c.514A>G (p.Ile172Val) rs886049568
NM_000617.3(SLC11A2):c.523C>T (p.Leu175=)
NM_000617.3(SLC11A2):c.607+12G>A rs224454
NM_000617.3(SLC11A2):c.625G>A (p.Ala209Thr) rs115874705
NM_000617.3(SLC11A2):c.647C>T (p.Thr216Ile) rs886049567
NM_000617.3(SLC11A2):c.828C>G (p.Val276=)
NM_000617.3(SLC11A2):c.832-3T>C
NM_000617.3(SLC11A2):c.893T>C (p.Ile298Thr)
NM_000617.3(SLC11A2):c.921C>T (p.Ser307=) rs762100462
NM_000617.3(SLC11A2):c.932A>G (p.Asn311Ser) rs769742722
NM_000619.3(IFNG):c.*107A>G rs886049800
NM_000619.3(IFNG):c.*180C>T rs2069722
NM_000619.3(IFNG):c.*187T>G
NM_000619.3(IFNG):c.*22T>A
NM_000619.3(IFNG):c.*231T>C
NM_000619.3(IFNG):c.*465A>T
NM_000619.3(IFNG):c.*500C>T rs528060683
NM_000619.3(IFNG):c.*539A>G rs2069723
NM_000619.3(IFNG):c.*93_*96TCAA[1] rs137854903
NM_000619.3(IFNG):c.*9C>T rs886049801
NM_000619.3(IFNG):c.-2C>A rs886049802
NM_000619.3(IFNG):c.-34T>G rs752463155
NM_000619.3(IFNG):c.-5A>G rs181407537
NM_000619.3(IFNG):c.-9T>C rs886049803
NM_000619.3(IFNG):c.114+11C>T rs200610212
NM_000619.3(IFNG):c.183+15C>G
NM_000619.3(IFNG):c.285C>T (p.Thr95=)
NM_000619.3(IFNG):c.431C>A (p.Ser144Ter) rs753611452
NM_000619.3(IFNG):c.431C>T (p.Ser144Leu)
NM_000969.5(RPL5):c.*47T>C
NM_000969.5(RPL5):c.-18C>A rs201295012
NM_000969.5(RPL5):c.-2G>A rs886046558
NM_000969.5(RPL5):c.-38C>T rs372080902
NM_000969.5(RPL5):c.-42A>C rs145634330
NM_000969.5(RPL5):c.-46C>G rs376208311
NM_000969.5(RPL5):c.-48G>A rs376070413
NM_000969.5(RPL5):c.-52C>G rs143326916
NM_000969.5(RPL5):c.-55C>G rs116168890
NM_000969.5(RPL5):c.-58G>T rs200437092
NM_000969.5(RPL5):c.-62C>G rs368663464
NM_000969.5(RPL5):c.-64C>G
NM_000969.5(RPL5):c.-6C>T rs199523145
NM_000969.5(RPL5):c.-70T>A rs551112484
NM_000969.5(RPL5):c.-74C>A
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys) rs750383596
NM_000969.5(RPL5):c.228C>T (p.Cys76=) rs370284124
NM_000969.5(RPL5):c.258T>C (p.Tyr86=) rs113792800
NM_000969.5(RPL5):c.3+11G>C
NM_000969.5(RPL5):c.3+12C>T
NM_000969.5(RPL5):c.3+13C>T rs189107197
NM_000969.5(RPL5):c.3+3G>C rs200628272
NM_000969.5(RPL5):c.324+14G>T
NM_000969.5(RPL5):c.325-11T>G rs145058455
NM_000969.5(RPL5):c.4-10T>C
NM_000969.5(RPL5):c.400A>C (p.Ser134Arg)
NM_000969.5(RPL5):c.403A>G (p.Ile135Val) rs200075817
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832
NM_000969.5(RPL5):c.642A>T (p.Glu214Asp)
NM_000969.5(RPL5):c.781G>C (p.Val261Leu) rs773839391
NM_000969.5(RPL5):c.794+121G>A rs10874744
NM_000969.5(RPL5):c.846A>G (p.Gln282=) rs376641112
NM_000975.5(RPL11):c.*52A>G rs60606712
NM_000975.5(RPL11):c.-14T>C rs886046307
NM_000975.5(RPL11):c.102G>A (p.Thr34=) rs199772693
NM_000975.5(RPL11):c.153C>T (p.Ser51=) rs80133698
NM_000975.5(RPL11):c.158-7C>T rs768654673
NM_000975.5(RPL11):c.264+9A>T
NM_000975.5(RPL11):c.270G>A (p.Arg90=) rs886046308
NM_000975.5(RPL11):c.287A>G (p.Lys96Arg)
NM_000975.5(RPL11):c.306T>C (p.Thr102=) rs886046309
NM_000975.5(RPL11):c.30C>T (p.Asn10=) rs139286202
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880
NM_000975.5(RPL11):c.396+9A>G rs201786327
NM_000996.4(RPL35A):c.*14C>A rs10022
NM_000996.4(RPL35A):c.*21T>A
NM_000996.4(RPL35A):c.*6C>T rs116874993
NM_000996.4(RPL35A):c.-31C>T rs766043927
NM_000996.4(RPL35A):c.-32-3A>G rs200335648
NM_000996.4(RPL35A):c.-33G>A rs564722971
NM_000996.4(RPL35A):c.-37T>G rs886058265
NM_000996.4(RPL35A):c.21C>T (p.Ser7=) rs145660527
NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln) rs145244860
NM_000996.4(RPL35A):c.55C>T (p.Arg19Trp)
NM_001011.4(RPS7):c.*31C>T rs191506876
NM_001011.4(RPS7):c.-104G>A rs371620447
NM_001011.4(RPS7):c.-109C>T rs142444366
NM_001011.4(RPS7):c.-13C>T rs765604580
NM_001011.4(RPS7):c.-19+13C>T rs530845583
NM_001011.4(RPS7):c.-23G>A rs886055985
NM_001011.4(RPS7):c.-27C>T rs573443780
NM_001011.4(RPS7):c.-36A>C rs17552296
NM_001011.4(RPS7):c.-44C>T rs563293592
NM_001011.4(RPS7):c.-47G>T rs11558965
NM_001011.4(RPS7):c.-86C>T rs186304514
NM_001011.4(RPS7):c.292-9A>T rs746941533
NM_001011.4(RPS7):c.39C>T (p.Gly13=) rs746686516
NM_001011.4(RPS7):c.435C>T (p.Arg145=) rs142207795
NM_001011.4(RPS7):c.508-12C>A rs2071639
NM_001011.4(RPS7):c.580T>C (p.Leu194=)
NM_001011.4(RPS7):c.75+13C>T rs751796318
NM_001014.5(RPS10):c.*25G>T rs886061321
NM_001014.5(RPS10):c.*43A>G rs200231286
NM_001014.5(RPS10):c.-1+218A>C rs4713778
NM_001014.5(RPS10):c.-14C>T rs576997899
NM_001014.5(RPS10):c.-21C>G rs181470609
NM_001014.5(RPS10):c.-27C>A
NM_001014.5(RPS10):c.-29C>T rs140822093
NM_001014.5(RPS10):c.-32del rs767826894
NM_001014.5(RPS10):c.-37C>T rs9469779
NM_001014.5(RPS10):c.-38_-37del rs1581933797
NM_001014.5(RPS10):c.-98T>C rs113071821
NM_001014.5(RPS10):c.-9G>C
NM_001014.5(RPS10):c.1-3C>G rs375500787
NM_001014.5(RPS10):c.111C>G (p.Asp37Glu) rs374314919
NM_001014.5(RPS10):c.168C>T (p.Gly56=)
NM_001014.5(RPS10):c.231G>A (p.Gln77=) rs147863199
NM_001014.5(RPS10):c.364G>A (p.Ala122Thr) rs886061322
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753
NM_001014.5(RPS10):c.432T>G (p.Ala144=)
NM_001014.5(RPS10):c.437C>T (p.Ser146Leu)
NM_001014.5(RPS10):c.6G>A (p.Leu2=) rs146246722
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592
NM_001018113.3(FANCB):c.*14T>C rs2375726
NM_001018113.3(FANCB):c.*151A>G
NM_001018113.3(FANCB):c.*33T>C rs187611308
NM_001018113.3(FANCB):c.*66T>G rs143434225
NM_001018113.3(FANCB):c.-111A>G
NM_001018113.3(FANCB):c.-173G>C rs2188383
NM_001018113.3(FANCB):c.-219G>T
NM_001018113.3(FANCB):c.-229T>G rs149617434
NM_001018113.3(FANCB):c.-230A>T rs1020271259
NM_001018113.3(FANCB):c.-232G>A rs756766337
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) rs772802668
NM_001018113.3(FANCB):c.1327-10T>C rs2905223
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys)
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) rs148560784
NM_001018113.3(FANCB):c.183C>T (p.Ser61=)
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=)
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) rs184796918
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) rs148257882
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.3(FANCB):c.362G>A (p.Arg121His)
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) rs151173533
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser)
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu) rs372534421
NM_001018115.3(FANCD2):c.1278+15C>T
NM_001018115.3(FANCD2):c.1278+5G>T
NM_001018115.3(FANCD2):c.1441A>G (p.Ile481Val)
NM_001018115.3(FANCD2):c.1596C>T (p.Leu532=)
NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=) rs141824395
NM_001018115.3(FANCD2):c.1667A>G (p.His556Arg)
NM_001018115.3(FANCD2):c.1802A>T (p.Asn601Ile)
NM_001018115.3(FANCD2):c.1830G>A (p.Val610=)
NM_001018115.3(FANCD2):c.1933G>T (p.Asp645Tyr)
NM_001018115.3(FANCD2):c.2176T>A (p.Ser726Thr)
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu)
NM_001018115.3(FANCD2):c.2234A>G (p.His745Arg)
NM_001018115.3(FANCD2):c.2276C>T (p.Pro759Leu)
NM_001018115.3(FANCD2):c.2433G>C (p.Lys811Asn)
NM_001018115.3(FANCD2):c.3466+10C>T rs200208121
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys) rs771078251
NM_001018115.3(FANCD2):c.3708T>C (p.Arg1236=)
NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=)
NM_001018115.3(FANCD2):c.4233G>C (p.Glu1411Asp)
NM_001018115.3(FANCD2):c.4281+328G>T
NM_001018115.3(FANCD2):c.4281+398G>C
NM_001018115.3(FANCD2):c.4281+517A>C
NM_001018115.3(FANCD2):c.521G>A (p.Arg174Gln)
NM_001018115.3(FANCD2):c.552C>T (p.Asp184=)
NM_001018115.3(FANCD2):c.607G>C (p.Ala203Pro)
NM_001018115.3(FANCD2):c.696-11A>G
NM_001022.3(RPS19):c.-139C>T rs886054467
NM_001022.3(RPS19):c.-146_-145insGCCA rs34020014
NM_001022.3(RPS19):c.-151G>T rs886054466
NM_001022.3(RPS19):c.-234G>A rs142324259
NM_001022.3(RPS19):c.-274T>C rs77406992
NM_001022.3(RPS19):c.-288A>C rs192556926
NM_001022.3(RPS19):c.-339T>C rs886054465
NM_001022.3(RPS19):c.-74C>T rs886054468
NM_001022.4(RPS19):c.*54T>C rs527896025
NM_001022.4(RPS19):c.-1+14C>T rs886054469
NM_001022.4(RPS19):c.-10A>G rs564634801
NM_001022.4(RPS19):c.-26C>T
NM_001022.4(RPS19):c.1-13C>T
NM_001022.4(RPS19):c.1-14A>G rs201317022
NM_001022.4(RPS19):c.1-7C>T rs782801643
NM_001022.4(RPS19):c.1-9C>A rs376460080
NM_001022.4(RPS19):c.172+5G>C rs886054471
NM_001022.4(RPS19):c.183G>A (p.Ala61=)
NM_001022.4(RPS19):c.198C>T (p.Leu66=)
NM_001022.4(RPS19):c.356+14= rs1366610
NM_001022.4(RPS19):c.357-5C>G
NM_001022.4(RPS19):c.411+12G>A rs61762296
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104
NM_001022.4(RPS19):c.71+12del rs886054470
NM_001022.4(RPS19):c.71+6T>A
NM_001029.5(RPS26):c.-130T>G
NM_001029.5(RPS26):c.-149G>T rs886049686
NM_001029.5(RPS26):c.-209T>G rs78108003
NM_001029.5(RPS26):c.-22C>G rs1131017
NM_001029.5(RPS26):c.-25C>T
NM_001029.5(RPS26):c.-27C>T rs200831849
NM_001029.5(RPS26):c.-31C>G rs17118262
NM_001029.5(RPS26):c.-31C>T
NM_001029.5(RPS26):c.-33C>T rs372794158
NM_001029.5(RPS26):c.-35G>A rs188808121
NM_001029.5(RPS26):c.-3A>G rs181174349
NM_001029.5(RPS26):c.-80C>T rs886049687
NM_001029.5(RPS26):c.-9G>T
NM_001029.5(RPS26):c.291C>T (p.Pro97=)
NM_001029.5(RPS26):c.3+14C>T
NM_001029.5(RPS26):c.3+7C>T
NM_001029.5(RPS26):c.3+9T>A
NM_001029.5(RPS26):c.327T>A (p.Arg109=) rs56696262
NM_001029.5(RPS26):c.93C>T (p.Pro31=) rs760255764
NM_001040436.3(YARS2):c.*126_*127del rs141873255
NM_001040436.3(YARS2):c.*142T>C rs190589666
NM_001040436.3(YARS2):c.*162A>G rs11052215
NM_001040436.3(YARS2):c.*191T>C rs144235100
NM_001040436.3(YARS2):c.*209G>C rs10844337
NM_001040436.3(YARS2):c.*230A>G rs371690622
NM_001040436.3(YARS2):c.*24A>G rs368305831
NM_001040436.3(YARS2):c.*360A>G rs567955032
NM_001040436.3(YARS2):c.*377G>A
NM_001040436.3(YARS2):c.*406C>T rs145618550
NM_001040436.3(YARS2):c.*469C>T
NM_001040436.3(YARS2):c.*478G>A
NM_001040436.3(YARS2):c.*595G>A
NM_001040436.3(YARS2):c.*627A>T rs886049303
NM_001040436.3(YARS2):c.*62G>A rs527443669
NM_001040436.3(YARS2):c.*643G>A rs11052214
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) rs35339227
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502
NM_001040436.3(YARS2):c.1104-16dup rs761612441
NM_001040436.3(YARS2):c.1241G>A (p.Arg414His) rs762786998
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) rs148729348
NM_001040436.3(YARS2):c.180G>A (p.Glu60=) rs137922867
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser) rs150304121
NM_001040436.3(YARS2):c.234T>C (p.Cys78=) rs565102282
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444
NM_001040436.3(YARS2):c.30C>T (p.Ser10=) rs886049305
NM_001040436.3(YARS2):c.327C>G (p.Ile109Met) rs886049304
NM_001040436.3(YARS2):c.456G>A (p.Ala152=) rs201940521
NM_001040436.3(YARS2):c.477C>T (p.Phe159=) rs774325742
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln) rs147630375
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445
NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg) rs541554381
NM_001040436.3(YARS2):c.810C>T (p.Thr270=) rs145906298
NM_001040436.3(YARS2):c.819A>G (p.Leu273=) rs149781186
NM_001040436.3(YARS2):c.870T>C (p.Val290=) rs142067801
NM_001040436.3(YARS2):c.917T>C (p.Phe306Ser) rs376934259
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001040436.3(YARS2):c.934G>C (p.Asp312His) rs190043383
NM_001063.4(TF):c.*361T>C
NM_001063.4(TF):c.*81A>G rs886058015
NM_001063.4(TF):c.-18C>T
NM_001063.4(TF):c.-2A>G rs1130459
NM_001063.4(TF):c.1027C>T (p.Arg343Trp)
NM_001063.4(TF):c.1029G>A (p.Arg343=) rs762383370
NM_001063.4(TF):c.1044C>T (p.Gly348=)
NM_001063.4(TF):c.1095G>A (p.Ala365=) rs575999145
NM_001063.4(TF):c.1107C>T (p.His369=) rs112157819
NM_001063.4(TF):c.1198A>G (p.Ile400Val)
NM_001063.4(TF):c.119G>A (p.Ser40Asn) rs146477698
NM_001063.4(TF):c.1204-14C>A
NM_001063.4(TF):c.1302C>T (p.Ser434=) rs142542411
NM_001063.4(TF):c.1352T>C (p.Val451Ala)
NM_001063.4(TF):c.142G>A (p.Val48Ile) rs144636315
NM_001063.4(TF):c.154G>A (p.Asp52Asn) rs41298295
NM_001063.4(TF):c.1572G>C (p.Leu524=) rs8649
NM_001063.4(TF):c.1602C>T (p.Tyr534=) rs7845
NM_001063.4(TF):c.1614C>T (p.Gly538=) rs8177286
NM_001063.4(TF):c.1615G>A (p.Ala539Thr)
NM_001063.4(TF):c.165T>A (p.Ser55Arg)
NM_001063.4(TF):c.1687+9A>C rs886058014
NM_001063.4(TF):c.1688-4C>A rs185023567
NM_001063.4(TF):c.174T>A (p.Cys58Ter) rs1559867036
NM_001063.4(TF):c.1765C>T (p.Pro589Ser) rs1049296
NM_001063.4(TF):c.1785C>T (p.Asn595=) rs757985238
NM_001063.4(TF):c.1805C>A (p.Pro602Gln) rs41296598
NM_001063.4(TF):c.2012G>A (p.Gly671Glu) rs121918677
NM_001063.4(TF):c.215C>T (p.Ala72Val)
NM_001063.4(TF):c.216+14G>C rs114449208
NM_001063.4(TF):c.227C>T (p.Ala76Val)
NM_001063.4(TF):c.228G>A (p.Ala76=) rs140381335
NM_001063.4(TF):c.281A>G (p.Asn94Ser)
NM_001063.4(TF):c.311A>G (p.Tyr104Cys)
NM_001063.4(TF):c.333G>A (p.Gln111=) rs150548621
NM_001063.4(TF):c.334A>G (p.Thr112Ala) rs199624323
NM_001063.4(TF):c.417G>A (p.Thr139=) rs113868497
NM_001063.4(TF):c.43+8C>A rs368521553
NM_001063.4(TF):c.432C>T (p.Ser144=) rs41298987
NM_001063.4(TF):c.502+12G>A
NM_001063.4(TF):c.521C>T (p.Ser174Leu) rs150679929
NM_001063.4(TF):c.582A>G (p.Pro194=) rs8177226
NM_001063.4(TF):c.585G>A (p.Gly195=) rs376851470
NM_001063.4(TF):c.60C>T (p.Val20=) rs756125441
NM_001063.4(TF):c.624G>A (p.Ser208=) rs12769
NM_001063.4(TF):c.635+13T>A rs41298993
NM_001063.4(TF):c.680C>T (p.Ser227Leu)
NM_001063.4(TF):c.686T>C (p.Ile229Thr) rs764361166
NM_001063.4(TF):c.739C>T (p.Leu247=) rs1799852
NM_001063.4(TF):c.790C>G (p.Gln264Glu)
NM_001063.4(TF):c.804T>C (p.His268=) rs8177232
NM_001063.4(TF):c.828C>T (p.Gly276=)
NM_001063.4(TF):c.829G>A (p.Gly277Ser) rs1799899
NM_001063.4(TF):c.887A>G (p.Asp296Gly) rs8177238
NM_001063.4(TF):c.956A>G (p.His319Arg) rs41295774
NM_001063.4(TF):c.993G>A (p.Lys331=) rs140829783
NM_001081.3(CUBN):c.*134G>A rs780636
NM_001081.3(CUBN):c.*151G>A rs76742384
NM_001081.3(CUBN):c.*162G>A rs558891678
NM_001081.3(CUBN):c.*177C>G rs886046860
NM_001081.3(CUBN):c.*195T>C rs886046859
NM_001081.3(CUBN):c.*203C>T rs769041830
NM_001081.3(CUBN):c.*266C>T rs374059721
NM_001081.3(CUBN):c.*281A>G rs886046858
NM_001081.3(CUBN):c.*297C>T rs886046857
NM_001081.3(CUBN):c.*305T>G rs143326344
NM_001081.3(CUBN):c.*329C>G rs376727720
NM_001081.3(CUBN):c.*329C>T rs376727720
NM_001081.3(CUBN):c.*330G>C rs181630914
NM_001081.3(CUBN):c.*373G>T rs780298022
NM_001081.3(CUBN):c.*416G>A rs886046856
NM_001081.3(CUBN):c.*420C>T rs182278265
NM_001081.3(CUBN):c.*436C>A rs574512019
NM_001081.3(CUBN):c.*45C>T rs7085076
NM_001081.3(CUBN):c.*470T>C rs886046855
NM_001081.3(CUBN):c.*514T>G rs886046854
NM_001081.3(CUBN):c.*560C>T rs45565931
NM_001081.3(CUBN):c.*564G>C rs184284227
NM_001081.3(CUBN):c.*601A>G rs780635
NM_001081.3(CUBN):c.*734A>G rs751683958
NM_001081.3(CUBN):c.*737T>C rs114039309
NM_001081.3(CUBN):c.*781C>T rs115080396
NM_001081.3(CUBN):c.*782G>A rs570478432
NM_001081.3(CUBN):c.*786T>C rs886046853
NM_001081.3(CUBN):c.*794A>G rs886046852
NM_001081.3(CUBN):c.*81C>A rs886046861
NM_001081.3(CUBN):c.*883G>A rs886046851
NM_001081.3(CUBN):c.*93C>A rs111644764
NM_001081.3(CUBN):c.-35G>C rs376502722
NM_001081.3(CUBN):c.-42G>T rs751905101
NM_001081.3(CUBN):c.-50G>A rs370711661
NM_001081.3(CUBN):c.10012C>A (p.Gln3338Lys) rs755210947
NM_001081.3(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947
NM_001081.3(CUBN):c.1003G>A (p.Ala335Thr) rs57335729
NM_001081.3(CUBN):c.10076C>T (p.Ser3359Leu) rs140566726
NM_001081.3(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.3(CUBN):c.10102A>G (p.Met3368Val) rs767333853
NM_001081.3(CUBN):c.10119C>A (p.Val3373=) rs139596037
NM_001081.3(CUBN):c.10181-14A>G rs886046864
NM_001081.3(CUBN):c.10245C>T (p.Tyr3415=) rs147730705
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.10267G>A (p.Val3423Ile) rs145872906
NM_001081.3(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873
NM_001081.3(CUBN):c.10363-3A>G rs765943248
NM_001081.3(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) rs141937843
NM_001081.3(CUBN):c.10466T>G (p.Phe3489Cys) rs886046863
NM_001081.3(CUBN):c.10641G>A (p.Arg3547=) rs145909413
NM_001081.3(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.3(CUBN):c.10752A>T (p.Pro3584=) rs886046862
NM_001081.3(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266
NM_001081.3(CUBN):c.10764+1G>A rs374982220
NM_001081.3(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.3(CUBN):c.109A>C (p.Ile37Leu) rs76788243
NM_001081.3(CUBN):c.1110A>C (p.Leu370=) rs886046878
NM_001081.3(CUBN):c.1111+5T>C rs199662739
NM_001081.3(CUBN):c.1165C>A (p.Pro389Thr) rs1801224
NM_001081.3(CUBN):c.1245T>C (p.Gly415=) rs12571671
NM_001081.3(CUBN):c.1530+12A>C rs138936163
NM_001081.3(CUBN):c.1604A>G (p.Tyr535Cys) rs139848689
NM_001081.3(CUBN):c.1653C>T (p.Ser551=) rs372499101
NM_001081.3(CUBN):c.1681G>A (p.Asp561Asn) rs147449194
NM_001081.3(CUBN):c.1794C>T (p.Tyr598=) rs140184467
NM_001081.3(CUBN):c.1811C>T (p.Pro604Leu) rs200537125
NM_001081.3(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.3(CUBN):c.1926C>T (p.Asp642=) rs201938886
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) rs12259370
NM_001081.3(CUBN):c.2013A>G (p.Pro671=) rs137892259
NM_001081.3(CUBN):c.2016G>A (p.Pro672=) rs148107237
NM_001081.3(CUBN):c.2110+10C>G rs752409034
NM_001081.3(CUBN):c.2120G>A (p.Arg707His) rs763524933
NM_001081.3(CUBN):c.2138C>T (p.Thr713Met) rs141420691
NM_001081.3(CUBN):c.2182T>C (p.Phe728Leu) rs147752521
NM_001081.3(CUBN):c.2188C>T (p.His730Tyr) rs7905349
NM_001081.3(CUBN):c.2203G>A (p.Val735Ile) rs370770104
NM_001081.3(CUBN):c.2445C>T (p.Val815=) rs116350428
NM_001081.3(CUBN):c.2446+11A>G rs372125740
NM_001081.3(CUBN):c.2447-15T>A rs886046877
NM_001081.3(CUBN):c.2483G>A (p.Arg828His) rs199527884
NM_001081.3(CUBN):c.2536A>G (p.Ile846Val) rs775423928
NM_001081.3(CUBN):c.2571C>T (p.Asn857=) rs17432826
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001081.3(CUBN):c.2610A>G (p.Glu870=) rs143471343
NM_001081.3(CUBN):c.2656G>A (p.Glu886Lys) rs138545198
NM_001081.3(CUBN):c.2756A>G (p.His919Arg) rs148869805
NM_001081.3(CUBN):c.2791+14C>T rs111781659
NM_001081.3(CUBN):c.2791+6A>C rs78549445
NM_001081.3(CUBN):c.2791+9C>T rs10795440
NM_001081.3(CUBN):c.2922C>T (p.Phe974=) rs201802902
NM_001081.3(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503
NM_001081.3(CUBN):c.3252A>G (p.Gln1084=) rs142560894
NM_001081.3(CUBN):c.3308A>G (p.Tyr1103Cys) rs760682560
NM_001081.3(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907
NM_001081.3(CUBN):c.3417A>G (p.Leu1139=) rs1801228
NM_001081.3(CUBN):c.348+2T>C rs146047781
NM_001081.3(CUBN):c.349-9T>C rs375431948
NM_001081.3(CUBN):c.3522C>T (p.Gly1174=) rs1873469
NM_001081.3(CUBN):c.3551C>G (p.Pro1184Arg) rs886046876
NM_001081.3(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.3(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360
NM_001081.3(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.3(CUBN):c.387+13C>T rs766779196
NM_001081.3(CUBN):c.3995A>G (p.Asn1332Ser) rs370803308
NM_001081.3(CUBN):c.4020C>G (p.Leu1340=) rs769326338
NM_001081.3(CUBN):c.4092C>G (p.Ser1364=) rs199763912
NM_001081.3(CUBN):c.4167C>T (p.Tyr1389=) rs150510291
NM_001081.3(CUBN):c.4375T>G (p.Ser1459Ala) rs886046875
NM_001081.3(CUBN):c.4563T>A (p.Ile1521=) rs1801229
NM_001081.3(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422
NM_001081.3(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231
NM_001081.3(CUBN):c.4797G>T (p.Leu1599Phe) rs201294291
NM_001081.3(CUBN):c.4811G>T (p.Gly1604Val) rs751110627
NM_001081.3(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615
NM_001081.3(CUBN):c.4872C>T (p.Ile1624=) rs114958584
NM_001081.3(CUBN):c.489+14T>C rs886046882
NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940
NM_001081.3(CUBN):c.5069C>T (p.Ala1690Val) rs141640975
NM_001081.3(CUBN):c.5073C>G (p.Pro1691=) rs200977290
NM_001081.3(CUBN):c.5076C>T (p.Leu1692=) rs886046874
NM_001081.3(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483
NM_001081.3(CUBN):c.5131G>A (p.Ala1711Thr) rs768182223
NM_001081.3(CUBN):c.5134C>T (p.Leu1712=) rs2271468
NM_001081.3(CUBN):c.5189C>T (p.Thr1730Met) rs201958183
NM_001081.3(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.3(CUBN):c.5302A>G (p.Ile1768Val) rs779378713
NM_001081.3(CUBN):c.5304C>T (p.Ile1768=) rs61841454
NM_001081.3(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.3(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.3(CUBN):c.5343-6A>G rs776579478
NM_001081.3(CUBN):c.5343-8C>A rs2271463
NM_001081.3(CUBN):c.536G>T (p.Gly179Val) rs370373276
NM_001081.3(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438
NM_001081.3(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462
NM_001081.3(CUBN):c.5569G>A (p.Val1857Met) rs886046873
NM_001081.3(CUBN):c.5680A>G (p.Ile1894Val) rs76789390
NM_001081.3(CUBN):c.5796A>G (p.Glu1932=) rs376536525
NM_001081.3(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305
NM_001081.3(CUBN):c.5856A>G (p.Ser1952=) rs1801234
NM_001081.3(CUBN):c.5862G>A (p.Lys1954=) rs181991723
NM_001081.3(CUBN):c.5909_5912TACC[1] (p.Thr1972fs) rs765301342
NM_001081.3(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.3(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303
NM_001081.3(CUBN):c.5926+5G>A rs143301088
NM_001081.3(CUBN):c.5961A>G (p.Ala1987=) rs886046872
NM_001081.3(CUBN):c.5967G>C (p.Val1989=) rs139153235
NM_001081.3(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113
NM_001081.3(CUBN):c.6091A>G (p.Thr2031Ala) rs150392211
NM_001081.3(CUBN):c.6124+8C>T rs2271461
NM_001081.3(CUBN):c.6180G>A (p.Gly2060=) rs534571792
NM_001081.3(CUBN):c.618C>T (p.Tyr206=) rs41289313
NM_001081.3(CUBN):c.6263T>C (p.Phe2088Ser) rs74844886
NM_001081.3(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.3(CUBN):c.6277G>A (p.Gly2093Ser) rs759351780
NM_001081.3(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177
NM_001081.3(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939
NM_001081.3(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712
NM_001081.3(CUBN):c.6561G>A (p.Ser2187=) rs11254278
NM_001081.3(CUBN):c.6661G>A (p.Val2221Ile) rs143291127
NM_001081.3(CUBN):c.671G>A (p.Arg224His) rs139891639
NM_001081.3(CUBN):c.6729G>A (p.Pro2243=) rs757609735
NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460
NM_001081.3(CUBN):c.6924A>T (p.Ser2308=) rs115303408
NM_001081.3(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389
NM_001081.3(CUBN):c.6997A>G (p.Ile2333Val) rs149507036
NM_001081.3(CUBN):c.7001-4G>A rs886046871
NM_001081.3(CUBN):c.7069T>C (p.Tyr2357His) rs376122892
NM_001081.3(CUBN):c.7070A>C (p.Tyr2357Ser) rs886046870
NM_001081.3(CUBN):c.7106G>T (p.Gly2369Val) rs200593316
NM_001081.3(CUBN):c.7210+9A>G rs117711403
NM_001081.3(CUBN):c.7316C>G (p.Ser2439Ter) rs1564421451
NM_001081.3(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.3(CUBN):c.7352-7A>C rs886046869
NM_001081.3(CUBN):c.735C>T (p.Cys245=) rs766772944
NM_001081.3(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556
NM_001081.3(CUBN):c.736G>A (p.Val246Ile) rs760990753
NM_001081.3(CUBN):c.7509G>A (p.Pro2503=) rs201001705
NM_001081.3(CUBN):c.7533A>C (p.Ile2511=) rs748416223
NM_001081.3(CUBN):c.7586G>A (p.Ser2529Asn) rs886046868
NM_001081.3(CUBN):c.758T>C (p.Phe253Ser) rs1801222
NM_001081.3(CUBN):c.7662A>G (p.Pro2554=) rs3740165
NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168
NM_001081.3(CUBN):c.7797C>T (p.Cys2599=) rs138758085
NM_001081.3(CUBN):c.7798G>A (p.Glu2600Lys) rs766806038
NM_001081.3(CUBN):c.7816C>A (p.Pro2606Thr) rs886046867
NM_001081.3(CUBN):c.7861dup (p.Tyr2621fs) rs1564415858
NM_001081.3(CUBN):c.7868A>C (p.Glu2623Ala) rs115449747
NM_001081.3(CUBN):c.7913-11A>G rs7088988
NM_001081.3(CUBN):c.8021G>A (p.Arg2674His) rs184746130
NM_001081.3(CUBN):c.8062+5G>A rs886046866
NM_001081.3(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237
NM_001081.3(CUBN):c.8095G>A (p.Val2699Met) rs535261179
NM_001081.3(CUBN):c.8139C>A (p.Thr2713=) rs147742103
NM_001081.3(CUBN):c.814G>A (p.Gly272Arg) rs146035059
NM_001081.3(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835
NM_001081.3(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222
NM_001081.3(CUBN):c.8222C>A (p.Thr2741Asn) rs771697506
NM_001081.3(CUBN):c.8233G>A (p.Asp2745Asn) rs886046865
NM_001081.3(CUBN):c.8254G>T (p.Gly2752Cys) rs747786939
NM_001081.3(CUBN):c.827C>T (p.Thr276Ile) rs886046881
NM_001081.3(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312
NM_001081.3(CUBN):c.8412T>C (p.Gly2804=) rs139990077
NM_001081.3(CUBN):c.8479G>A (p.Glu2827Lys) rs373893072
NM_001081.3(CUBN):c.8502G>A (p.Thr2834=) rs749545791
NM_001081.3(CUBN):c.8599-8C>T rs199774490
NM_001081.3(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238
NM_001081.3(CUBN):c.8656G>A (p.Val2886Met) rs200235278
NM_001081.3(CUBN):c.8671G>A (p.Val2891Ile) rs150488625
NM_001081.3(CUBN):c.8701G>A (p.Val2901Ile) rs201093611
NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) rs45551835
NM_001081.3(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509
NM_001081.3(CUBN):c.8831T>G (p.Met2944Arg) rs544783535
NM_001081.3(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008
NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534
NM_001081.3(CUBN):c.8908C>T (p.Arg2970Cys) rs562374248
NM_001081.3(CUBN):c.8921C>T (p.Thr2974Met) rs374477671
NM_001081.3(CUBN):c.8943C>T (p.Gly2981=) rs767131065
NM_001081.3(CUBN):c.8950A>G (p.Ile2984Val) rs1801239
NM_001081.3(CUBN):c.8968G>A (p.Val2990Ile) rs115888073
NM_001081.3(CUBN):c.9005A>G (p.Glu3002Gly) rs1801240
NM_001081.3(CUBN):c.9030T>C (p.Ala3010=) rs1801241
NM_001081.3(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363
NM_001081.3(CUBN):c.9036G>A (p.Pro3012=) rs576867280
NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299
NM_001081.3(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444
NM_001081.3(CUBN):c.910G>A (p.Glu304Lys) rs78201384
NM_001081.3(CUBN):c.923A>C (p.Glu308Ala) rs886046880
NM_001081.3(CUBN):c.9267C>T (p.Thr3089=) rs200124646
NM_001081.3(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846
NM_001081.3(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284
NM_001081.3(CUBN):c.939C>T (p.Asn313=) rs1801223
NM_001081.3(CUBN):c.9418G>A (p.Ala3140Thr) rs148491916
NM_001081.3(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_001081.3(CUBN):c.9525G>A (p.Ser3175=) rs199499934
NM_001081.3(CUBN):c.9565A>G (p.Ile3189Val) rs111265129
NM_001081.3(CUBN):c.9597C>T (p.Leu3199=) rs200457480
NM_001081.3(CUBN):c.9618G>A (p.Leu3206=) rs559567467
NM_001081.3(CUBN):c.963C>T (p.Pro321=) rs150309054
NM_001081.3(CUBN):c.9664-9T>G rs145383974
NM_001081.3(CUBN):c.9714T>C (p.Gly3238=) rs141513734
NM_001081.3(CUBN):c.9843A>G (p.Thr3281=) rs703064
NM_001081.3(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427
NM_001081.4(CUBN):c.*15G>A
NM_001081.4(CUBN):c.*267A>T
NM_001081.4(CUBN):c.*298G>A
NM_001081.4(CUBN):c.*304G>T
NM_001081.4(CUBN):c.*330G>A
NM_001081.4(CUBN):c.*380T>C
NM_001081.4(CUBN):c.*446A>G
NM_001081.4(CUBN):c.*453A>G
NM_001081.4(CUBN):c.*460C>A
NM_001081.4(CUBN):c.*597A>C
NM_001081.4(CUBN):c.*669C>T
NM_001081.4(CUBN):c.*769G>A
NM_001081.4(CUBN):c.*872T>C
NM_001081.4(CUBN):c.*940A>G
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys)
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly)
NM_001081.4(CUBN):c.10293C>T (p.His3431=)
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=) rs145569358
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser)
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=) rs1801232
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys)
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr)
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe)
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe)
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr)
NM_001081.4(CUBN):c.1230C>T (p.Ile410=)
NM_001081.4(CUBN):c.1236T>C (p.Thr412=) rs201404467
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu)
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616
NM_001081.4(CUBN):c.165G>A (p.Thr55=)
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala)
NM_001081.4(CUBN):c.2151T>C (p.Gly717=)
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser)
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser)
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg)
NM_001081.4(CUBN):c.2446+14_2446+15del rs752528712
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225
NM_001081.4(CUBN):c.2673C>T (p.Cys891=)
NM_001081.4(CUBN):c.2932C>A (p.His978Asn)
NM_001081.4(CUBN):c.3008+9_3008+12dup rs772081536
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010
NM_001081.4(CUBN):c.348+10A>G
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=)
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly)
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser)
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn)
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys)
NM_001081.4(CUBN):c.388-3C>T
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp)
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp)
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg)
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=)
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val)
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser)
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His)
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=)
NM_001081.4(CUBN):c.483G>A (p.Gln161=)
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=)
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu)
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys)
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp)
NM_001081.4(CUBN):c.5343-11C>T
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=)
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val)
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln)
NM_001081.4(CUBN):c.5840C>A rs147617753
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val)
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys)
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala)
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=)
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=) rs373804380
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile)
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile)
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=)
NM_001081.4(CUBN):c.7706-4T>C rs374979108
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=)
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys)
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu)
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=)
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=)
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys)
NM_001081.4(CUBN):c.879A>G (p.Pro293=)
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr)
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys)
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu)
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala)
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe)
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) rs140524729
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=)
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser)
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln)
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp)
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His)
NM_001113378.1(FANCI):c.*614T>G rs886051521
NM_001113378.1(FANCI):c.-23G>A rs886051506
NM_001113378.1(FANCI):c.-72C>G rs886051505
NM_001113378.1(FANCI):c.-90T>C rs559714713
NM_001113378.1(FANCI):c.1111A>G (p.Ser371Gly) rs149008055
NM_001113378.1(FANCI):c.1113-10G>C rs756650711
NM_001113378.1(FANCI):c.1114G>A (p.Val372Ile) rs76788798
NM_001113378.1(FANCI):c.1176A>T (p.Ser392=) rs201871288
NM_001113378.1(FANCI):c.1179T>C (p.Tyr393=) rs3743377
NM_001113378.1(FANCI):c.1294-8C>T rs16942931
NM_001113378.1(FANCI):c.1311A>G (p.Arg437=) rs772846275
NM_001113378.1(FANCI):c.1326G>A (p.Glu442=) rs34405660
NM_001113378.1(FANCI):c.1399G>A (p.Val467Ile) rs199726965
NM_001113378.1(FANCI):c.1491A>G (p.Gln497=) rs145349375
NM_001113378.1(FANCI):c.1512+3A>G rs760846523
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) rs144908351
NM_001113378.1(FANCI):c.158G>C (p.Gly53Ala) rs149223439
NM_001113378.1(FANCI):c.164C>T (p.Pro55Leu) rs62020347
NM_001113378.1(FANCI):c.1698+15C>T rs9806604
NM_001113378.1(FANCI):c.1699-7C>A rs28446881
NM_001113378.1(FANCI):c.1703A>G (p.His568Arg) rs555480773
NM_001113378.1(FANCI):c.17T>C (p.Leu6Ser) rs369268726
NM_001113378.1(FANCI):c.1801G>A (p.Val601Ile) rs200007022
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.1(FANCI):c.1856T>A (p.Leu619Gln) rs151038616
NM_001113378.1(FANCI):c.1890+3A>G rs886051510
NM_001113378.1(FANCI):c.1893A>C (p.Leu631Phe) rs118138806
NM_001113378.1(FANCI):c.1900T>A (p.Phe634Ile) rs140965103
NM_001113378.1(FANCI):c.1939T>C (p.Leu647=) rs150231327
NM_001113378.1(FANCI):c.1963G>A (p.Gly655Arg) rs138026584
NM_001113378.1(FANCI):c.196C>T (p.Arg66Cys) rs143105092
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) rs139814895
NM_001113378.1(FANCI):c.2021G>T (p.Cys674Phe) rs886051511
NM_001113378.1(FANCI):c.2028C>T (p.Ala676=) rs169