ClinVar Miner

List of variants reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20211
Download table as spreadsheet
HGVS dbSNP
46;XY;t(12;14)(q15;q13)mat
46;XY;t(2;13)(p25.2;q31.3)dn
46;XY;t(8;9)(p11.2;q13)dn
46;Y;inv(X)(p11.2q28)mat
NC_000001.10:g.(?_155880221)_(156109650_?)del
NC_000001.10:g.(?_160011163)_(160111132_?)dup
NC_000001.10:g.(?_161284190)_(161332229_?)dup
NC_000001.10:g.(?_161293398)_(161332229_?)dup
NC_000001.10:g.(?_161310378)_(161332229_?)dup
NC_000001.10:g.(?_161326461)_(161332229_?)dup
NC_000001.11:g.(?_161314396)_(161362443_?)dup
NC_000001.11:g.(?_161323614)_(161323670_?)del
NC_000001.11:g.(?_161340584)_(161362443_?)dup
NC_000001.11:g.(?_161356667)_(161362443_?)dup
NC_000001.11:g.(?_17018722)_(17018958_?)del
NC_000001.11:g.(?_17018722)_(17054170_?)dup
NC_000001.11:g.(?_17018871)_(17054029_?)dup
NC_000001.11:g.(?_17018875)_(17028742_?)dup
NC_000001.11:g.(?_17044751)_(17054029_?)dup
NC_000002.11:g.(?_231033820)_(231086456_?)dup
NC_000002.11:g.178562111_178577218dup
NC_000002.12:g.(?_232163439)_(232163652_?)dup
NC_000002.12:g.(?_232163449)_(232163642_?)dup
NC_000002.12:g.(?_232163449)_(232336640_?)dup
NC_000002.12:g.(?_232163459)_(232163632_?)dup
NC_000002.12:g.(?_232329807)_(232333993_?)dup
NC_000002.12:g.(?_232333834)_(232336636_?)dup
NC_000002.12:g.(?_63484584)_(63492960_?)del
NC_000002.12:g.(?_96253802)_(96265387_?)dup
NC_000003.12:g.(?_10064719)_(10149975_?)dup
NC_000003.12:g.(?_10085802)_(10098960_?)dup
NC_000003.12:g.(?_10141842)_(10149971_?)dup
NC_000003.12:g.(?_10146504)_(10146646_?)dup
NC_000003.12:g.(?_10149787)_(10153670_?)dup
NC_000006.12:g.(?_49440186)_(49459486_?)dup
NC_000007.14:g.(?_116699075)_(116700294_?)dup
NC_000007.14:g.(?_116699075)_(117504373_?)dup
NC_000007.14:g.(?_116699079)_(116759496_?)dup
NC_000007.14:g.(?_116740846)_(116741031_?)del
NC_000007.14:g.(?_158926167)_(158927063_?)del
NC_000007.14:g.(?_33146233)_(33146384_?)dup
NC_000007.14:g.(?_42048471)_(42148488_?)del
NC_000007.14:g.(?_83367566)_(83648562_?)del
NC_000009.12:g.(?_100226042)_(100226255_?)del
NC_000009.12:g.(?_132896225)_(132945143_?)dup
NC_000009.12:g.(?_132896235)_(132928872_?)dup
NC_000009.12:g.(?_132923328)_(132928892_?)dup
NC_000009.12:g.(?_132928761)_(132928878_?)dup
NC_000009.12:g.(?_35074102)_(35079530_?)dup
NC_000009.12:g.(?_95101701)_(95508367_?)dup
NC_000011.10:g.(?_112086898)_(112094980_?)dup
NC_000011.10:g.(?_22622533)_(22625841_?)dup
NC_000011.9:g.111964415_111966592del2178
NC_000012.12:g.(?_753546)_(871368_?)dup
NC_000012.12:g.(?_753546)_(878381_?)dup
NC_000012.12:g.(?_753546)_(908812_?)dup
NC_000014.8:g.(?_105176405)_(105185180_?)dup
NC_000014.9:g.(?_45159090)_(45159286_?)dup
NC_000016.10:g.(?_2048587)_(2088712_?)dup
NC_000016.10:g.(?_2048610)_(2060819_?)dup
NC_000016.10:g.(?_2058741)_(2088616_?)dup
NC_000016.10:g.(?_2060650)_(2065655_?)dup
NC_000016.10:g.(?_2064272)_(2088712_?)dup
NC_000016.10:g.(?_3582336)_(3608970_?)dup
NC_000016.10:g.(?_3879812)_(4337544_?)dup
NC_000016.10:g.(?_4336705)_(4337544_?)dup
NC_000016.10:g.(?_75539974)_(75542703_?)dup
NC_000016.10:g.(?_75539974)_(75545515_?)dup
NC_000016.10:g.(?_89814510)_(89816625_?)dup
NC_000016.10:g.(?_89814520)_(89816657_?)dup
NC_000016.10:g.2061923_2061925delTGG
NC_000016.10:g.3589688_3589702delGGTGGTGTCTGGGGC
NC_000017.10:g.(?_29422322)_(29497021_?)dup
NC_000017.10:g.(?_29422322)_(29592363_?)dup
NC_000017.10:g.(?_29546017)_(29585526_?)dup
NC_000017.10:g.(?_56769999)_(56811589_?)dup
NC_000017.10:g.(?_59861625)_(59938906_?)dup
NC_000017.10:g.(?_59870952)_(59876666_?)del
NC_000017.11:g.(?_17213649)_(17217188_?)dup
NC_000017.11:g.(?_17213649)_(17228143_?)dup
NC_000017.11:g.(?_31094927)_(31182665_?)dup
NC_000017.11:g.(?_31095300)_(31095379_?)dup
NC_000017.11:g.(?_31095300)_(31374165_?)dup
NC_000017.11:g.(?_31095304)_(31374161_?)dup
NC_000017.11:g.(?_31374003)_(31374165_?)dup
NC_000017.11:g.(?_31374013)_(31377677_?)dup
NC_000017.11:g.(?_58692638)_(58696865_?)dup
NC_000017.11:g.(?_58692638)_(58724106_?)dup
NC_000017.11:g.(?_58694925)_(58696865_?)dup
NC_000017.11:g.(?_58709853)_(58709996_?)dup
NC_000017.11:g.(?_61683286)_(61684150_?)dup
NC_000017.11:g.(?_61683290)_(61861545_?)dup
NC_000017.11:g.(?_61685826)_(61686175_?)del
NC_000017.11:g.(?_61743013)_(61808757_?)dup
NC_000017.11:g.(?_61776391)_(61861549_?)dup
NC_000017.11:g.(?_61776395)_(61861545_?)dup
NC_000017.11:g.(?_61780251)_(61784434_?)del
NC_000017.11:g.(?_61780255)_(61784430_?)del
NC_000017.11:g.(?_61793587)_(61808767_?)dup
NC_000017.11:g.(?_61793591)_(61808763_?)dup
NC_000017.11:g.(?_61808461)_(61861545_?)dup
NC_000017.11:g.(?_61847095)_(61861545_?)dup
NC_000017.11:g.(?_7669603)_(7676600_?)dup
NC_000017.11:g.(?_7673529)_(7688293_?)dup
NC_000017.11:g.(?_7674853)_(7676600_?)dup
NC_000021.8:g.(?_45629566)_(46330717_?)dup
NC_000022.11:g.(?_40868979)_(41333213_?)dup
NC_000023.11:g.(?_14857852)_(14859344_?)del
NC_012920.1:m.9355A>T rs1556423663
NG_008079.1:g.12970_12974del rs1555746537
NG_008079.1:g.13091A>G rs780675808
NG_008079.1:g.13114_13135del rs759412123
NG_008218.2:g.22853T>C rs777372106
NG_008218.2:g.23025C>G rs144346886
NG_008218.2:g.23094G>A rs758880377
NG_008218.2:g.23108A>G rs552236933
NG_008218.2:g.23167G>A rs886051517
NG_011690.1:g.5165_5166ins6 rs1553396125
NG_011690.1:g.5180_5181ins6 rs1553396142
NG_011690.1:g.5188_5189ins6 rs1491479006
NM_000029.3(AGT):c.*167T>C rs5043
NM_000029.3(AGT):c.*287G>A rs765914094
NM_000029.3(AGT):c.*384A>C rs886046079
NM_000029.3(AGT):c.*423T>G rs5044
NM_000029.3(AGT):c.*508C>T rs886046078
NM_000029.3(AGT):c.*513C>A rs886046077
NM_000029.3(AGT):c.*514G>A rs767078016
NM_000029.3(AGT):c.*83G>A rs886046080
NM_000029.3(AGT):c.-186G>A rs886046086
NM_000029.3(AGT):c.-191C>T rs886046087
NM_000029.3(AGT):c.-222G>A rs61762543
NM_000029.3(AGT):c.-298G>A rs5048
NM_000029.3(AGT):c.-29C>T rs5052
NM_000029.3(AGT):c.-320C>T rs61757165
NM_000029.3(AGT):c.-400T>C rs36218431
NM_000029.3(AGT):c.-423G>A rs5047
NM_000029.3(AGT):c.-48G>A rs886046085
NM_000029.3(AGT):c.1154T>C (p.Val385Ala) rs61731499
NM_000029.3(AGT):c.1222G>A (p.Glu408Lys) rs886046081
NM_000029.3(AGT):c.1325C>T (p.Ser442Phe) rs61751077
NM_000029.3(AGT):c.1345C>G (p.Pro449Ala) rs61751078
NM_000029.3(AGT):c.151T>C (p.Cys51Arg) rs61731497
NM_000029.3(AGT):c.263T>C (p.Leu88Pro) rs886046084
NM_000029.3(AGT):c.274G>A (p.Ala92Thr) rs886046083
NM_000029.3(AGT):c.327G>A (p.Leu109=) rs886046082
NM_000029.3(AGT):c.412G>T (p.Ala138Ser) rs61762539
NM_000029.3(AGT):c.674A>C (p.Gln225Pro) rs568010875
NM_000029.3(AGT):c.843C>T (p.Tyr281=) rs543740975
NM_000029.3(AGT):c.883G>T (p.Ala295Ser) rs377397992
NM_000029.3(AGT):c.886G>A (p.Glu296Lys) rs139685563
NM_000029.3(AGT):c.891C>T (p.Pro297=) rs748569303
NM_000029.3(AGT):c.951C>T (p.Gly317=) rs771576624
NM_000030.2(AGXT):c.*160G>A rs776483024
NM_000030.2(AGXT):c.*162A>G rs886055844
NM_000030.2(AGXT):c.*19G>A rs143458283
NM_000030.2(AGXT):c.*289A>C rs4344931
NM_000030.2(AGXT):c.*39G>A rs369979466
NM_000030.2(AGXT):c.*41C>A rs4273214
NM_000030.2(AGXT):c.-14G>A rs376396832
NM_000030.2(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.2(AGXT):c.1071+12C>T rs375775541
NM_000030.2(AGXT):c.1071+13G>A rs758413374
NM_000030.2(AGXT):c.1072-91G>A rs180177159
NM_000030.2(AGXT):c.1142G>A (p.Arg381Lys) rs151185188
NM_000030.2(AGXT):c.1174C>T (p.Leu392=) rs180177167
NM_000030.2(AGXT):c.145A>C (p.Met49Leu) rs74205173
NM_000030.2(AGXT):c.165+12G>C rs201989825
NM_000030.2(AGXT):c.165+16A>G rs66494441
NM_000030.2(AGXT):c.165+19_165+92dup74 rs180177174
NM_000030.2(AGXT):c.165+83C>T rs180177175
NM_000030.2(AGXT):c.165+84C>T rs114401766
NM_000030.2(AGXT):c.166-100A>C rs57017537
NM_000030.2(AGXT):c.166-14C>T rs180177176
NM_000030.2(AGXT):c.166-47T>C rs180177178
NM_000030.2(AGXT):c.166-54C>T rs180177179
NM_000030.2(AGXT):c.166-96T>A rs58120546
NM_000030.2(AGXT):c.260_271del12 (p.Glu87_Leu90del) rs1553648333
NM_000030.2(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.2(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.2(AGXT):c.27C>A (p.Thr9=) rs180177188
NM_000030.2(AGXT):c.296C>A (p.Ser99Tyr) rs180177192
NM_000030.2(AGXT):c.32C>A (p.Pro11His) rs34116584
NM_000030.2(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.2(AGXT):c.358+13C>T rs34995778
NM_000030.2(AGXT):c.358+56_358+64del9 rs180177209
NM_000030.2(AGXT):c.35A>G (p.Lys12Arg) rs142969817
NM_000030.2(AGXT):c.385G>C (p.Asp129His) rs180177212
NM_000030.2(AGXT):c.423+29C>T rs117043148
NM_000030.2(AGXT):c.423+36A>C rs180177216
NM_000030.2(AGXT):c.423+45T>G rs117357855
NM_000030.2(AGXT):c.423G>C (p.Glu141Asp) rs180177217
NM_000030.2(AGXT):c.424-12dupC rs398122323
NM_000030.2(AGXT):c.424-16G>A rs74895925
NM_000030.2(AGXT):c.484G>A (p.Val162Met) rs147497484
NM_000030.2(AGXT):c.489G>A (p.Leu163=) rs147601535
NM_000030.2(AGXT):c.524+3G>A rs886055839
NM_000030.2(AGXT):c.524+91C>T rs10196315
NM_000030.2(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.2(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.2(AGXT):c.601G>A (p.Asp201Asn) rs886055840
NM_000030.2(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.2(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.2(AGXT):c.680+130C>T rs78178548
NM_000030.2(AGXT):c.680+17C>T rs11693280
NM_000030.2(AGXT):c.680+75G>A rs117619103
NM_000030.2(AGXT):c.681-94G>A rs141154272
NM_000030.2(AGXT):c.686_688dup (p.Lys229_Met230insLys) rs1553648979
NM_000030.2(AGXT):c.705G>A (p.Thr235=) rs35977912
NM_000030.2(AGXT):c.742G>T (p.Ala248Ser) rs180177260
NM_000030.2(AGXT):c.777-44A>G rs12464426
NM_000030.2(AGXT):c.777-45C>T rs12478859
NM_000030.2(AGXT):c.781C>G (p.His261Asp) rs778567956
NM_000030.2(AGXT):c.822G>C (p.Glu274Asp) rs146525143
NM_000030.2(AGXT):c.82C>T (p.Pro28Ser) rs376684240
NM_000030.2(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.2(AGXT):c.837T>G (p.Ile279Met) rs180177277
NM_000030.2(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000030.2(AGXT):c.845A>G (p.Gln282Arg) rs180177280
NM_000030.2(AGXT):c.846+52G>A rs12695032
NM_000030.2(AGXT):c.865C>T (p.Arg289Cys) rs180177290
NM_000030.2(AGXT):c.866G>A (p.Arg289His) rs61729604
NM_000030.2(AGXT):c.901C>T (p.Arg301Cys) rs886055841
NM_000030.2(AGXT):c.930C>T (p.Phe310=) rs886055842
NM_000030.2(AGXT):c.942+14T>G rs886055843
NM_000030.2(AGXT):c.943-117C>T rs10199038
NM_000030.2(AGXT):c.976G>A (p.Val326Ile) rs115057148
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)
NM_000031.5(ALAD):c.*106C>G rs8177820
NM_000031.5(ALAD):c.*127C>T rs561104906
NM_000031.5(ALAD):c.*1464A>G rs559359572
NM_000031.5(ALAD):c.*1470G>A rs886063360
NM_000031.5(ALAD):c.*1511T>C rs745513769
NM_000031.5(ALAD):c.*1631G>A rs886063359
NM_000031.5(ALAD):c.*1675C>T rs756771103
NM_000031.5(ALAD):c.*1741G>A rs886063358
NM_000031.5(ALAD):c.*1864A>C rs886063357
NM_000031.5(ALAD):c.*1915delA rs886063356
NM_000031.5(ALAD):c.*381G>A rs886063363
NM_000031.5(ALAD):c.*400G>A rs557867804
NM_000031.5(ALAD):c.*422G>T rs41276805
NM_000031.5(ALAD):c.*438G>C rs886063362
NM_000031.5(ALAD):c.*459_*463delGTTGA rs886063361
NM_000031.5(ALAD):c.*676dupA rs532401659
NM_000031.5(ALAD):c.*813A>G rs138705750
NM_000031.5(ALAD):c.-131C>T rs531786276
NM_000031.5(ALAD):c.-156C>A rs562413861
NM_000031.5(ALAD):c.-156_-155insGC rs879417667
NM_000031.5(ALAD):c.-158_-155dupCCCC rs143518565
NM_000031.5(ALAD):c.-160_-159insA rs886063365
NM_000031.5(ALAD):c.-197G>T rs376588496
NM_000031.5(ALAD):c.-4C>T rs755977870
NM_000031.5(ALAD):c.-76+15G>T rs756965057
NM_000031.5(ALAD):c.15C>T (p.Ser5=) rs144608303
NM_000031.5(ALAD):c.16G>A (p.Val6Ile) rs766501537
NM_000031.5(ALAD):c.1A>G (p.Met1Val) rs752500552
NM_000031.5(ALAD):c.264C>T (p.Asp88=) rs377534006
NM_000031.5(ALAD):c.29G>C (p.Gly10Ala) rs199655229
NM_000031.5(ALAD):c.439C>T (p.Arg147Cys) rs777664535
NM_000031.5(ALAD):c.501G>A (p.Pro167=) rs376714503
NM_000031.5(ALAD):c.520C>T (p.Arg174Cys) rs758622234
NM_000031.5(ALAD):c.521G>A (p.Arg174His) rs750462706
NM_000031.5(ALAD):c.678G>T (p.Leu226=) rs190497588
NM_000031.5(ALAD):c.715-14C>A rs201135240
NM_000031.5(ALAD):c.724G>A (p.Val242Ile) rs200180791
NM_000031.5(ALAD):c.72C>T (p.Thr24=) rs1805314
NM_000031.5(ALAD):c.897C>T (p.Ala299=) rs370242589
NM_000031.5(ALAD):c.931+15G>A rs886063364
NM_000031.5(ALAD):c.940A>G (p.Ile314Val) rs557510313
NM_000033.3(ABCD1):c.*10C>T rs1057515814
NM_000033.3(ABCD1):c.*196C>G rs367591611
NM_000033.3(ABCD1):c.*208G>C rs193922092
NM_000033.3(ABCD1):c.*259A>G rs374092960
NM_000033.3(ABCD1):c.*412T>C rs1057515815
NM_000033.3(ABCD1):c.*481G>T rs199942817
NM_000033.3(ABCD1):c.*530G>A rs67211405
NM_000033.3(ABCD1):c.*555_*561delGAGAGGG rs1057515816
NM_000033.3(ABCD1):c.*795C>T rs1057515817
NM_000033.3(ABCD1):c.*870G>T rs72616452
NM_000033.3(ABCD1):c.*903G>A rs78155328
NM_000033.3(ABCD1):c.-10C>T rs782754717
NM_000033.3(ABCD1):c.-342G>A rs912340339
NM_000033.3(ABCD1):c.1181C>T (p.Ala394Val)
NM_000033.3(ABCD1):c.1183G>C (p.Ala395Pro) rs1557054176
NM_000033.3(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649
NM_000033.3(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988
NM_000033.3(ABCD1):c.1452C>G (p.Pro484=) rs782546330
NM_000033.3(ABCD1):c.1523C>A (p.Pro508His)
NM_000033.3(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792
NM_000033.3(ABCD1):c.1533C>G (p.Cys511Trp) rs782370364
NM_000033.3(ABCD1):c.1567C>T (p.Leu523Phe) rs1159943880
NM_000033.3(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029
NM_000033.3(ABCD1):c.1599G>T (p.Lys533Asn)
NM_000033.3(ABCD1):c.1644G>A (p.Met548Ile)
NM_000033.3(ABCD1):c.1746_1748delCGT (p.Val583del) rs1557054859
NM_000033.3(ABCD1):c.1747G>A (p.Val583Met)
NM_000033.3(ABCD1):c.1763T>A (p.Ile588Asn)
NM_000033.3(ABCD1):c.1780+4G>A rs193922095
NM_000033.3(ABCD1):c.1893C>T (p.Cys631=) rs1557055319
NM_000033.3(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.3(ABCD1):c.1979G>T (p.Arg660Leu) rs1557055340
NM_000033.3(ABCD1):c.2003C>T (p.Thr668Ile) rs1557055398
NM_000033.3(ABCD1):c.2134C>T (p.Arg712Cys)
NM_000033.3(ABCD1):c.229_237delTGGCTCCTG (p.Trp77_Leu79del)
NM_000033.3(ABCD1):c.238C>T (p.Arg80Trp) rs868977355
NM_000033.3(ABCD1):c.392G>T (p.Gly131Val) rs367799134
NM_000033.3(ABCD1):c.415_417delCTC (p.Leu139del) rs1557052351
NM_000033.3(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000033.3(ABCD1):c.433A>G (p.Thr145Ala)
NM_000033.3(ABCD1):c.452T>C (p.Ile151Thr)
NM_000033.3(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.3(ABCD1):c.50G>A (p.Arg17His)
NM_000033.3(ABCD1):c.582C>G (p.Asp194Glu)
NM_000033.3(ABCD1):c.638C>A (p.Ser213Tyr)
NM_000033.3(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.3(ABCD1):c.739G>A (p.Ala247Thr) rs782487174
NM_000033.3(ABCD1):c.756C>A (p.Phe252Leu)
NM_000033.3(ABCD1):c.773T>C (p.Leu258Pro)
NM_000033.3(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.3(ABCD1):c.876G>C (p.Glu292Asp) rs1557052573
NM_000033.3(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys)
NM_000035.3(ALDOB):c.*150delA rs200345626
NM_000035.4(ALDOB):c.*12C>T rs201867948
NM_000035.4(ALDOB):c.*268T>C rs142431256
NM_000035.4(ALDOB):c.*286C>T rs886063291
NM_000035.4(ALDOB):c.*289C>G rs886063290
NM_000035.4(ALDOB):c.*567C>T rs540272117
NM_000035.4(ALDOB):c.*714A>G rs886063289
NM_000035.4(ALDOB):c.*752C>G rs555999328
NM_000035.4(ALDOB):c.*802A>G rs886063288
NM_000035.4(ALDOB):c.*849T>C rs181650438
NM_000035.4(ALDOB):c.*898T>C rs886063287
NM_000035.4(ALDOB):c.-1C>T rs560091436
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696
NM_000035.4(ALDOB):c.1063C>T (p.Gln355Ter) rs1554702065
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr) rs781023784
NM_000035.4(ALDOB):c.243C>T (p.His81=) rs182003715
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000035.4(ALDOB):c.309C>T (p.Ile103=) rs747019279
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.401G>A (p.Arg134His) rs145252200
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810
NM_000035.4(ALDOB):c.523G>A (p.Ala175Thr) rs755134927
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe) rs1554702442
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro) rs1554702433
NM_000035.4(ALDOB):c.698T>A (p.Met233Lys) rs777324536
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.799+6G>A rs141888548
NM_000035.4(ALDOB):c.806_808del (p.Cys269del) rs1159180033
NM_000035.4(ALDOB):c.956C>T (p.Ala319Val) rs755508323
NM_000038.5(APC):c.-30226A>G rs189807660
NM_000038.5(APC):c.-30354G>C rs543098847
NM_000038.5(APC):c.-30430A>G rs554351451
NM_000038.5(APC):c.1553C>T (p.Thr518Met) rs371453363
NM_000038.5(APC):c.1576A>G (p.Met526Val) rs777219286
NM_000038.5(APC):c.1606G>A (p.Glu536Lys) rs138098808
NM_000038.5(APC):c.1762G>A (p.Val588Ile) rs372416031
NM_000038.5(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.5(APC):c.2414G>A (p.Arg805Gln) rs200593940
NM_000038.5(APC):c.2474A>G (p.Tyr825Cys) rs186641437
NM_000038.5(APC):c.2527A>G (p.Ser843Gly) rs536223189
NM_000038.5(APC):c.3374T>C (p.Val1125Ala) rs377278397
NM_000038.5(APC):c.4297C>T (p.Pro1433Ser) rs1554085738
NM_000038.5(APC):c.4372C>T (p.Pro1458Ser) rs143796828
NM_000038.5(APC):c.4440G>C (p.Gln1480His) rs876659881
NM_000038.5(APC):c.4658C>T (p.Ala1553Val) rs1554086050
NM_000038.5(APC):c.4714A>T (p.Ile1572Phe) rs750107668
NM_000038.5(APC):c.4847A>T (p.Lys1616Ile) rs1554086241
NM_000038.5(APC):c.5105G>A (p.Gly1702Glu) rs769273526
NM_000038.5(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.5(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.5(APC):c.6257C>G (p.Pro2086Arg) rs786202975
NM_000038.5(APC):c.6639G>A (p.Met2213Ile) rs35540155
NM_000038.5(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.5(APC):c.6736G>A (p.Val2246Ile) rs1055180096
NM_000038.5(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.5(APC):c.7166G>A (p.Ser2389Asn) rs779287035
NM_000038.5(APC):c.791A>G (p.Gln264Arg) rs369345931
NM_000038.5(APC):c.8276G>A (p.Arg2759His) rs538289470
NM_000038.5(APC):c.8332G>T (p.Ala2778Ser) rs587778046
NM_000038.5(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.5(APC):c.8396C>T (p.Ser2799Leu) rs1554089094
NM_000038.5(APC):c.8462A>G (p.Asp2821Gly) rs780049836
NM_000038.6(APC):c.3716G>A (p.Arg1239Lys) rs754067085
NM_000039.2(APOA1):c.116C>T (p.Ala39Val) rs746314593
NM_000039.2(APOA1):c.168G>A (p.Gln56=) rs760886281
NM_000039.2(APOA1):c.28G>A (p.Val10Met) rs750125257
NM_000039.2(APOA1):c.480G>T (p.Glu160Asp) rs769548576
NM_000039.2(APOA1):c.498C>A (p.Ser166Arg) rs757899657
NM_000039.2(APOA1):c.9T>C (p.Ala3=) rs141383703
NM_000053.3(ATP7B):c.*1005G>T rs563813110
NM_000053.3(ATP7B):c.*1009G>A rs79747858
NM_000053.3(ATP7B):c.*1014A>G rs540878290
NM_000053.3(ATP7B):c.*1036C>T rs533209080
NM_000053.3(ATP7B):c.*1076A>T rs564499990
NM_000053.3(ATP7B):c.*1095C>T rs886050300
NM_000053.3(ATP7B):c.*111G>A rs546262455
NM_000053.3(ATP7B):c.*1265A>G rs762692870
NM_000053.3(ATP7B):c.*1385G>A rs41292780
NM_000053.3(ATP7B):c.*1409A>C rs537012324
NM_000053.3(ATP7B):c.*148C>T rs111901413
NM_000053.3(ATP7B):c.*1491A>G rs139053981
NM_000053.3(ATP7B):c.*1493T>C rs886050299
NM_000053.3(ATP7B):c.*1499A>T rs567043686
NM_000053.3(ATP7B):c.*1558T>A rs886050298
NM_000053.3(ATP7B):c.*1592T>C rs886050297
NM_000053.3(ATP7B):c.*15C>T rs73498144
NM_000053.3(ATP7B):c.*1659A>G rs113688195
NM_000053.3(ATP7B):c.*16G>A rs193922100
NM_000053.3(ATP7B):c.*1756T>C rs886050296
NM_000053.3(ATP7B):c.*1782delC rs886050295
NM_000053.3(ATP7B):c.*1805C>T rs182439700
NM_000053.3(ATP7B):c.*1901G>A rs886050294
NM_000053.3(ATP7B):c.*190C>T rs115420019
NM_000053.3(ATP7B):c.*221C>A rs886050305
NM_000053.3(ATP7B):c.*421C>T rs556584760
NM_000053.3(ATP7B):c.*510G>T rs886050304
NM_000053.3(ATP7B):c.*781T>C rs886050303
NM_000053.3(ATP7B):c.*786T>C rs886050302
NM_000053.3(ATP7B):c.*851T>C rs553202651
NM_000053.3(ATP7B):c.*870C>T rs532782366
NM_000053.3(ATP7B):c.*963C>T rs371788814
NM_000053.3(ATP7B):c.*994_*997delACTG rs886050301
NM_000053.3(ATP7B):c.-118_-116delATGinsAATCGGCG rs1555304632
NM_000053.3(ATP7B):c.-122G>A rs886050311
NM_000053.3(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000053.3(ATP7B):c.-124_-123ins5 rs766338038
NM_000053.3(ATP7B):c.-126_-125ins5 rs1322135702
NM_000053.3(ATP7B):c.-388C>T rs913869716
NM_000053.3(ATP7B):c.-54G>T rs115564351
NM_000053.3(ATP7B):c.-676_-659dup rs1555304816
NM_000053.3(ATP7B):c.-73G>T rs886050309
NM_000053.3(ATP7B):c.-74C>A rs193922101
NM_000053.3(ATP7B):c.-74C>T rs193922101
NM_000053.3(ATP7B):c.-97C>T rs886050310
NM_000053.3(ATP7B):c.1122C>G (p.Val374=) rs201254466
NM_000053.3(ATP7B):c.1145C>G (p.Ser382Cys) rs774102085
NM_000053.3(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856
NM_000053.3(ATP7B):c.1230A>G (p.Pro410=) rs772843652
NM_000053.3(ATP7B):c.1231G>A (p.Glu411Lys) rs886050308
NM_000053.3(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.3(ATP7B):c.130T>A (p.Tyr44Asn)
NM_000053.3(ATP7B):c.133G>A (p.Glu45Lys) rs777504965
NM_000053.3(ATP7B):c.1543+13C>T rs200171850
NM_000053.3(ATP7B):c.1543+14G>A rs770362811
NM_000053.3(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.3(ATP7B):c.1616C>T (p.Pro539Leu) rs572122562
NM_000053.3(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823
NM_000053.3(ATP7B):c.1771G>A (p.Gly591Ser)
NM_000053.3(ATP7B):c.1834A>G (p.Ile612Val) rs886050307
NM_000053.3(ATP7B):c.1840G>T (p.Gly614Cys) rs376565432
NM_000053.3(ATP7B):c.1915C>T (p.His639Tyr) rs200728096
NM_000053.3(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074
NM_000053.3(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.3(ATP7B):c.1946+6T>C rs751287778
NM_000053.3(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.3(ATP7B):c.19_20delCA (p.Gln7Aspfs) rs749363958
NM_000053.3(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.3(ATP7B):c.2060_2062delACA (p.Asn687del) rs770107276
NM_000053.3(ATP7B):c.2069C>T (p.Pro690Leu) rs1555291809
NM_000053.3(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.3(ATP7B):c.2097_2099delCTT (p.Phe700del) rs1555291787
NM_000053.3(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.3(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756
NM_000053.3(ATP7B):c.2143T>C (p.Tyr715His) rs1555291272
NM_000053.3(ATP7B):c.2152G>C (p.Ala718Pro) rs1555291265
NM_000053.3(ATP7B):c.2251G>T (p.Ala751Ser) rs1555291181
NM_000053.3(ATP7B):c.2267C>T (p.Ala756Val) rs769927137
NM_000053.3(ATP7B):c.2279C>T (p.Pro760Leu) rs766907687
NM_000053.3(ATP7B):c.2326C>G (p.Leu776Val) rs1217463955
NM_000053.3(ATP7B):c.2354A>G (p.Lys785Arg) rs1555291085
NM_000053.3(ATP7B):c.2355+4A>G rs776572343
NM_000053.3(ATP7B):c.2390C>T (p.Ser797Phe) rs1555290883
NM_000053.3(ATP7B):c.2469G>C (p.Glu823Asp) rs886050306
NM_000053.3(ATP7B):c.2480G>C (p.Arg827Pro) rs368589213
NM_000053.3(ATP7B):c.2480G>T (p.Arg827Leu) rs368589213
NM_000053.3(ATP7B):c.2486A>G (p.Asp829Gly)
NM_000053.3(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.3(ATP7B):c.2575+5G>C rs551030054
NM_000053.3(ATP7B):c.2591T>G (p.Val864Gly) rs1555288669
NM_000053.3(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.3(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.3(ATP7B):c.2672G>A (p.Gly891Asp) rs483352684
NM_000053.3(ATP7B):c.268_270delAAG (p.Lys90del) rs751970838
NM_000053.3(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.3(ATP7B):c.2797A>C (p.Thr933Pro) rs1555288410
NM_000053.3(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076
NM_000053.3(ATP7B):c.2827G>T (p.Gly943Cys) rs28942076
NM_000053.3(ATP7B):c.2848_2850delGTT (p.Val950del) rs1424494639
NM_000053.3(ATP7B):c.2921C>T (p.Thr974Met) rs201061621
NM_000053.3(ATP7B):c.2945C>T (p.Ala982Val) rs1487547257
NM_000053.3(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.3(ATP7B):c.2975C>A (p.Pro992His) rs201038679
NM_000053.3(ATP7B):c.2978C>T (p.Thr993Met) rs200290721
NM_000053.3(ATP7B):c.2980G>T (p.Ala994Ser) rs1555287372
NM_000053.3(ATP7B):c.2984T>C (p.Val995Ala) rs777791532
NM_000053.3(ATP7B):c.3051G>A (p.Met1017Ile) rs755851188
NM_000053.3(ATP7B):c.3071T>C (p.Val1024Ala) rs1416453532
NM_000053.3(ATP7B):c.3097A>G (p.Thr1033Ala) rs1555286620
NM_000053.3(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.3(ATP7B):c.3105C>T (p.Gly1035=) rs200324179
NM_000053.3(ATP7B):c.3106G>A (p.Val1036Ile) rs761147984
NM_000053.3(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.3(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.3(ATP7B):c.3208C>T (p.Pro1070Ser) rs1423701688
NM_000053.3(ATP7B):c.322T>C (p.Cys108Arg)
NM_000053.3(ATP7B):c.3266G>A (p.Gly1089Glu) rs1555285911
NM_000053.3(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.3(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738
NM_000053.3(ATP7B):c.3324C>T (p.Asn1108=) rs372456815
NM_000053.3(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.3(ATP7B):c.3396C>T (p.Ser1132=) rs370947152
NM_000053.3(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770
NM_000053.3(ATP7B):c.3431_3433delTCT (p.Phe1144del) rs1555285393
NM_000053.3(ATP7B):c.3451C>G (p.Arg1151Gly) rs755554442
NM_000053.3(ATP7B):c.3467G>A (p.Arg1156His) rs773917820
NM_000053.3(ATP7B):c.3498T>C (p.Ser1166=) rs587783314
NM_000053.3(ATP7B):c.3502G>T (p.Ala1168Ser) rs777879359
NM_000053.3(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.3(ATP7B):c.3556G>C (p.Gly1186Arg) rs786204547
NM_000053.3(ATP7B):c.3557-6C>T rs140708492
NM_000053.3(ATP7B):c.3589G>A (p.Ala1197Thr) rs758025913
NM_000053.3(ATP7B):c.3638G>T (p.Gly1213Val) rs1555284582
NM_000053.3(ATP7B):c.3644A>G (p.Asp1215Gly) rs1555284575
NM_000053.3(ATP7B):c.3662_3664delGGG (p.Gly1221del) rs886042519
NM_000053.3(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.3(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199
NM_000053.3(ATP7B):c.3733C>G (p.Pro1245Ala) rs587783316
NM_000053.3(ATP7B):c.3741C>G (p.His1247Gln) rs767464491
NM_000053.3(ATP7B):c.3767A>G (p.Gln1256Arg) rs1555283946
NM_000053.3(ATP7B):c.3797G>A (p.Gly1266Glu)
NM_000053.3(ATP7B):c.3821C>T (p.Ala1274Val) rs1555283882
NM_000053.3(ATP7B):c.3836A>G (p.Asp1279Gly) rs778914828
NM_000053.3(ATP7B):c.3842G>A (p.Gly1281Asp) rs755202606
NM_000053.3(ATP7B):c.3852_3875del24 (p.Gly1285_Ile1292del) rs1555283826
NM_000053.3(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
NM_000053.3(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155
NM_000053.3(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396
NM_000053.3(ATP7B):c.3885C>T (p.Ala1295=) rs200597654
NM_000053.3(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000053.3(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.3(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.3(ATP7B):c.3912_3913delGCinsTT (p.Leu1304Phe) rs1555283732
NM_000053.3(ATP7B):c.3914T>C (p.Leu1305Pro)
NM_000053.3(ATP7B):c.3971A>C (p.Asn1324Thr) rs760285767
NM_000053.3(ATP7B):c.4063G>A (p.Gly1355Ser) rs1555282751
NM_000053.3(ATP7B):c.4064G>A (p.Gly1355Asp) rs1305262063
NM_000053.3(ATP7B):c.406A>T (p.Arg136Trp) rs557577836
NM_000053.3(ATP7B):c.4102C>G (p.Leu1368Val)
NM_000053.3(ATP7B):c.4106C>T (p.Ser1369Leu) rs1555282678
NM_000053.3(ATP7B):c.4118T>C (p.Leu1373Pro) rs780811477
NM_000053.3(ATP7B):c.4124G>C (p.Cys1375Ser) rs1365425480
NM_000053.3(ATP7B):c.4125-1G>A
NM_000053.3(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.3(ATP7B):c.4185G>C (p.Leu1395=) rs368801566
NM_000053.3(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000053.3(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.3(ATP7B):c.4325delG (p.Ser1442Thrfs) rs774744497
NM_000053.3(ATP7B):c.432_434delGGT (p.Val145del) rs1555296674
NM_000053.3(ATP7B):c.4336dup (p.Asp1446Glyfs) rs1555282097
NM_000053.3(ATP7B):c.4339dup (p.Asp1447Glyfs)
NM_000053.3(ATP7B):c.433G>T (p.Val145Phe) rs183365083
NM_000053.3(ATP7B):c.4387C>T (p.Gln1463Ter) rs1392030070
NM_000053.3(ATP7B):c.482T>C (p.Ile161Thr)
NM_000053.3(ATP7B):c.588C>A (p.Asp196Glu) rs756718353
NM_000053.3(ATP7B):c.618T>A (p.Phe206Leu) rs764353593
NM_000053.3(ATP7B):c.670A>T (p.Ile224Phe) rs200563529
NM_000053.3(ATP7B):c.676C>T (p.Arg226Trp) rs749626601
NM_000053.3(ATP7B):c.740A>G (p.Glu247Gly) rs376398239
NM_000053.3(ATP7B):c.764_775del12 (p.His255_Thr258del) rs1417723997
NM_000053.3(ATP7B):c.854T>G (p.Val285Gly)
NM_000053.3(ATP7B):c.98T>C (p.Met33Thr) rs184868522
NM_000054.4(AVPR2):c.*119G>A rs782425427
NM_000054.4(AVPR2):c.*136T>G rs782141948
NM_000054.4(AVPR2):c.-48G>C rs782204150
NM_000054.4(AVPR2):c.886T>C (p.Trp296Arg) rs886041110
NM_000059.3(BRCA2):c.*292A>C rs886050112
NM_000059.3(BRCA2):c.*345A>G rs886050113
NM_000059.3(BRCA2):c.*360dupC rs886050114
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.*545T>C rs536333595
NM_000059.3(BRCA2):c.*675C>A rs886050117
NM_000059.3(BRCA2):c.*696G>A rs886050118
NM_000059.3(BRCA2):c.-210A>G rs886050111
NM_000059.3(BRCA2):c.1282C>A (p.Leu428Ile) rs547590567
NM_000059.3(BRCA2):c.1433C>A (p.Thr478Lys) rs431825282
NM_000059.3(BRCA2):c.2122T>A (p.Ser708Thr) rs80358488
NM_000059.3(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296
NM_000059.3(BRCA2):c.2405A>G (p.Asn802Ser) rs876661089
NM_000059.3(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.2908G>A (p.Asp970Asn) rs397507295
NM_000059.3(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545
NM_000059.3(BRCA2):c.316+13A>G rs773097109
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.3495T>C (p.His1165=) rs776655838
NM_000059.3(BRCA2):c.3497T>A (p.Val1166Asp) rs762886975
NM_000059.3(BRCA2):c.3808G>A (p.Val1270Ile) rs876658938
NM_000059.3(BRCA2):c.3835A>G (p.Asn1279Asp) rs80358626
NM_000059.3(BRCA2):c.4478A>G (p.Glu1493Gly) rs80358679
NM_000059.3(BRCA2):c.4535G>A (p.Arg1512His) rs80358685
NM_000059.3(BRCA2):c.4825A>G (p.Thr1609Ala) rs876659201
NM_000059.3(BRCA2):c.5225A>T (p.Asn1742Ile) rs756463217
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
NM_000059.3(BRCA2):c.5319G>A (p.Glu1773=) rs376257217
NM_000059.3(BRCA2):c.561G>A (p.Glu187=) rs754678843
NM_000059.3(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.3(BRCA2):c.5962G>A (p.Val1988Ile) rs28897739
NM_000059.3(BRCA2):c.5986G>T (p.Ala1996Ser) rs80358833
NM_000059.3(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760
NM_000059.3(BRCA2):c.6148G>A (p.Val2050Ile) rs80358854
NM_000059.3(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.3(BRCA2):c.6626T>C (p.Ile2209Thr) rs431825344
NM_000059.3(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503
NM_000059.3(BRCA2):c.6818G>A (p.Arg2273Lys) rs587782174
NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912
NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930
NM_000059.3(BRCA2):c.7435+10G>A rs81002793
NM_000059.3(BRCA2):c.7447A>G (p.Ser2483Gly) rs80358966
NM_000059.3(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.3(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354
NM_000059.3(BRCA2):c.7693G>A (p.Glu2565Lys) rs764761862
NM_000059.3(BRCA2):c.7781A>G (p.Lys2594Arg) rs876660874
NM_000059.3(BRCA2):c.7954G>A (p.Val2652Met) rs1466452770
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.7992T>G (p.Ile2664Met) rs80359800
NM_000059.3(BRCA2):c.8007A>T (p.Arg2669Ser) rs143999963
NM_000059.3(BRCA2):c.8530G>A (p.Glu2844Lys) rs755783122
NM_000059.3(BRCA2):c.8817G>C (p.Lys2939Asn) rs397507414
NM_000059.3(BRCA2):c.8825C>T (p.Ala2942Val) rs373227180
NM_000059.3(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155
NM_000059.3(BRCA2):c.909T>G (p.Ser303=) rs757430441
NM_000059.3(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.3(BRCA2):c.9530A>G (p.Glu3177Gly) rs876658365
NM_000059.3(BRCA2):c.9538C>T (p.Leu3180Phe) rs200598289
NM_000059.3(BRCA2):c.963A>G (p.Gln321=) rs276174927
NM_000064.3(C3):c.1164C>T (p.Pro388=) rs769368306
NM_000064.3(C3):c.1269+14C>A rs886054655
NM_000064.3(C3):c.1758G>A (p.Glu586=) rs764201055
NM_000064.3(C3):c.1767C>T (p.His589=) rs775843240
NM_000064.3(C3):c.1819A>G (p.Lys607Glu) rs140637006
NM_000064.3(C3):c.2403G>A (p.Thr801=) rs886054654
NM_000064.3(C3):c.2450T>A (p.Val817Glu) rs886054653
NM_000064.3(C3):c.2700C>G (p.Ile900Met) rs763155610
NM_000064.3(C3):c.2857G>A (p.Gly953Ser) rs779124363
NM_000064.3(C3):c.2907C>T (p.Asp969=) rs144672500
NM_000064.3(C3):c.2951-9_2951-4CTG[1]
NM_000064.3(C3):c.3299T>C (p.Leu1100Pro) rs750654763
NM_000064.3(C3):c.3687C>T (p.Asn1229=) rs201108539
NM_000064.3(C3):c.4095C>G (p.Val1365=) rs527830114
NM_000064.3(C3):c.4120+8G>T rs886054652
NM_000064.3(C3):c.4319A>C (p.Asp1440Ala) rs147116781
NM_000064.3(C3):c.443G>A (p.Arg148Gln) rs886054657
NM_000064.3(C3):c.4535G>A (p.Arg1512His) rs142868256
NM_000064.3(C3):c.463A>C (p.Lys155Gln) rs147859257
NM_000064.3(C3):c.4759C>T (p.Pro1587Ser) rs746985605
NM_000064.3(C3):c.4803C>T (p.His1601=) rs762332809
NM_000064.3(C3):c.4827C>T (p.Ser1609=) rs150537373
NM_000064.3(C3):c.4850+12C>A rs748416799
NM_000064.3(C3):c.4941G>A (p.Gln1647=) rs780251209
NM_000064.3(C3):c.681C>T (p.Tyr227=) rs756694755
NM_000064.3(C3):c.769G>A (p.Ala257Thr)
NM_000064.3(C3):c.819C>T (p.Phe273=) rs886054656
NM_000067.2(CA2):c.*17G>A rs140653628
NM_000067.2(CA2):c.*303C>T rs150089617
NM_000067.2(CA2):c.*374A>G rs886063151
NM_000067.2(CA2):c.*465A>C rs886063152
NM_000067.2(CA2):c.*562T>C rs886063153
NM_000067.2(CA2):c.-130C>A rs570970117
NM_000067.2(CA2):c.-138G>A rs557422827
NM_000067.2(CA2):c.-176C>T rs886063146
NM_000067.2(CA2):c.-53G>T rs886063148
NM_000067.2(CA2):c.-84_-82dupCCC rs886063147
NM_000067.2(CA2):c.40G>A (p.Glu14Lys) rs758659684
NM_000067.2(CA2):c.508-7G>A rs886063149
NM_000067.2(CA2):c.539C>T (p.Pro180Leu) rs886063150
NM_000067.2(CA2):c.648C>T (p.Ser216=) rs376387073
NM_000067.3(CA2):c.139_142CTGT[1] (p.Ser48Phefs)
NM_000075.3(CDK4):c.625C>T (p.Arg209Cys) rs140644696
NM_000076.2(CDKN1C):c.-266G>A rs147317732
NM_000076.2(CDKN1C):c.107C>G (p.Pro36Arg)
NM_000076.2(CDKN1C):c.11C>T (p.Ala4Val) rs201368350
NM_000076.2(CDKN1C):c.131G>A (p.Arg44His)
NM_000076.2(CDKN1C):c.131G>T (p.Arg44Leu) rs1477382841
NM_000076.2(CDKN1C):c.143C>T (p.Ala48Val) rs774548414
NM_000076.2(CDKN1C):c.17T>C (p.Leu6Pro) rs201715947
NM_000076.2(CDKN1C):c.182G>C (p.Trp61Ser) rs1554938211
NM_000076.2(CDKN1C):c.19C>T (p.Arg7Cys) rs374634184
NM_000076.2(CDKN1C):c.218G>A (p.Gly73Asp) rs1060500179
NM_000076.2(CDKN1C):c.223G>A (p.Gly75Arg) rs1224283171
NM_000076.2(CDKN1C):c.226C>T (p.Arg76Cys) rs750526402
NM_000076.2(CDKN1C):c.227G>T (p.Arg76Leu)
NM_000076.2(CDKN1C):c.265G>A (p.Ala89Thr) rs1177512372
NM_000076.2(CDKN1C):c.271T>C (p.Tyr91His) rs1060499712
NM_000076.2(CDKN1C):c.29C>A (p.Ser10Tyr)
NM_000076.2(CDKN1C):c.307C>G (p.Leu103Val)
NM_000076.2(CDKN1C):c.31A>G (p.Thr11Ala)
NM_000076.2(CDKN1C):c.341C>T (p.Ala114Val) rs1486019596
NM_000076.2(CDKN1C):c.349C>T (p.Pro117Ser) rs570636789
NM_000076.2(CDKN1C):c.350C>G (p.Pro117Arg) rs945890937
NM_000076.2(CDKN1C):c.352C>G (p.Pro118Ala) rs772684721
NM_000076.2(CDKN1C):c.353C>T (p.Pro118Leu) rs771731330
NM_000076.2(CDKN1C):c.355C>T (p.Leu119Phe) rs1323156745
NM_000076.2(CDKN1C):c.358G>C (p.Glu120Gln)
NM_000076.2(CDKN1C):c.364G>A (p.Ala122Thr)
NM_000076.2(CDKN1C):c.366C>A (p.Ala122=) rs1554938097
NM_000076.2(CDKN1C):c.373T>C (p.Ser125Pro) rs1319558011
NM_000076.2(CDKN1C):c.374C>A (p.Ser125Tyr)
NM_000076.2(CDKN1C):c.388G>A (p.Glu130Lys)
NM_000076.2(CDKN1C):c.395C>T (p.Ala132Val) rs1364155293
NM_000076.2(CDKN1C):c.400G>C (p.Glu134Gln) rs1013695050
NM_000076.2(CDKN1C):c.410C>T (p.Pro137Leu)
NM_000076.2(CDKN1C):c.415G>A (p.Val139Ile) rs1183623363
NM_000076.2(CDKN1C):c.429_434dup (p.Ala145_Ser146insProAla) rs1201148541
NM_000076.2(CDKN1C):c.443C>A (p.Pro148Gln) rs754671425
NM_000076.2(CDKN1C):c.446C>T (p.Pro149Leu) rs1060500175
NM_000076.2(CDKN1C):c.447_464delCCCAGTCCCGGTCCTGGC (p.Val151_Pro156del) rs1159599818
NM_000076.2(CDKN1C):c.451G>A (p.Val151Ile) rs753342439
NM_000076.2(CDKN1C):c.455_460delCGGTCC (p.Pro152_Val153del) rs1060500173
NM_000076.2(CDKN1C):c.472C>G (p.Pro158Ala)
NM_000076.2(CDKN1C):c.475G>A (p.Ala159Thr)
NM_000076.2(CDKN1C):c.476C>A (p.Ala159Asp)
NM_000076.2(CDKN1C):c.488_493dup (p.Pro164_Val165insAlaPro)
NM_000076.2(CDKN1C):c.491C>T (p.Pro164Leu) rs1315960524
NM_000076.2(CDKN1C):c.492G>A (p.Pro164=)
NM_000076.2(CDKN1C):c.493G>A (p.Val165Ile) rs1060500172
NM_000076.2(CDKN1C):c.498G>A (p.Ala166=)
NM_000076.2(CDKN1C):c.50C>T (p.Ala17Val)
NM_000076.2(CDKN1C):c.528G>A (p.Ala176=) rs533485167
NM_000076.2(CDKN1C):c.529G>A (p.Val177Ile) rs1060500174
NM_000076.2(CDKN1C):c.533T>A (p.Leu178Gln)
NM_000076.2(CDKN1C):c.533T>C (p.Leu178Pro) rs1060500177
NM_000076.2(CDKN1C):c.539C>T (p.Pro180Leu) rs113374868
NM_000076.2(CDKN1C):c.540G>A (p.Pro180=) rs1419249357
NM_000076.2(CDKN1C):c.542C>T (p.Ala181Val)
NM_000076.2(CDKN1C):c.557C>T (p.Pro186Leu)
NM_000076.2(CDKN1C):c.558G>A (p.Pro186=) rs1554937948
NM_000076.2(CDKN1C):c.570_581dupGGCCCCGGCTCC (p.Pro194_Val195insAlaProAlaPro) rs997267634
NM_000076.2(CDKN1C):c.571G>T (p.Ala191Ser) rs1060500180
NM_000076.2(CDKN1C):c.575C>G (p.Pro192Arg)
NM_000076.2(CDKN1C):c.584T>C (p.Val195Ala) rs1261515352
NM_000076.2(CDKN1C):c.586G>C (p.Ala196Pro) rs1281835164
NM_000076.2(CDKN1C):c.610C>G (p.Pro204Ala)
NM_000076.2(CDKN1C):c.619G>A (p.Ala207Thr) rs1554937870
NM_000076.2(CDKN1C):c.625G>A (p.Ala209Thr) rs750581456
NM_000076.2(CDKN1C):c.626C>G (p.Ala209Gly)
NM_000076.2(CDKN1C):c.631G>A (p.Ala211Thr) rs1060500178
NM_000076.2(CDKN1C):c.641C>T (p.Pro214Leu)
NM_000076.2(CDKN1C):c.644C>A (p.Ala215Asp) rs1060500176
NM_000076.2(CDKN1C):c.644C>T (p.Ala215Val)
NM_000076.2(CDKN1C):c.653C>T (p.Ala218Val)
NM_000076.2(CDKN1C):c.670G>A (p.Ala224Thr) rs528634940
NM_000076.2(CDKN1C):c.676C>G (p.Gln226Glu) rs483352987
NM_000076.2(CDKN1C):c.691G>A (p.Gly231Arg)
NM_000076.2(CDKN1C):c.698_699delGCinsAG (p.Arg233Gln) rs1554937778
NM_000076.2(CDKN1C):c.709C>T (p.Pro237Ser) rs1240280374
NM_000076.2(CDKN1C):c.712C>T (p.Leu238Phe) rs878853640
NM_000076.2(CDKN1C):c.733G>A (p.Gly245Arg) rs1060500181
NM_000076.2(CDKN1C):c.73G>C (p.Val25Leu)
NM_000076.2(CDKN1C):c.740C>T (p.Ser247Leu) rs104894200
NM_000076.2(CDKN1C):c.741G>A (p.Ser247=) rs1404692297
NM_000076.2(CDKN1C):c.742G>A (p.Gly248Arg)
NM_000076.2(CDKN1C):c.745C>T (p.Arg249Cys) rs878853641
NM_000076.2(CDKN1C):c.752C>T (p.Ala251Val)
NM_000076.2(CDKN1C):c.763G>A (p.Ala255Thr) rs760038657
NM_000076.2(CDKN1C):c.769G>T (p.Ala257Ser) rs754283907
NM_000076.2(CDKN1C):c.770C>G (p.Ala257Gly) rs878853642
NM_000076.2(CDKN1C):c.784G>A (p.Ala262Thr)
NM_000076.2(CDKN1C):c.802T>A (p.Ser268Thr) rs781340171
NM_000076.2(CDKN1C):c.808C>A (p.Pro270Thr) rs1416211722
NM_000076.2(CDKN1C):c.818C>G (p.Ser273Cys)
NM_000076.2(CDKN1C):c.819C>T (p.Ser273=) rs1430282098
NM_000076.2(CDKN1C):c.820+1G>A rs1554937699
NM_000076.2(CDKN1C):c.820+6C>T
NM_000076.2(CDKN1C):c.837C>T (p.Arg279=)
NM_000076.2(CDKN1C):c.848C>T (p.Ala283Val) rs776541692
NM_000076.2(CDKN1C):c.860C>G (p.Ser287Trp)
NM_000076.2(CDKN1C):c.860C>T (p.Ser287Leu) rs928007699
NM_000076.2(CDKN1C):c.874C>G (p.Pro292Ala)
NM_000076.2(CDKN1C):c.886C>T (p.Pro296Ser) rs531059713
NM_000076.2(CDKN1C):c.901G>T (p.Ala301Ser) rs749702191
NM_000076.2(CDKN1C):c.909C>T (p.Gly303=) rs377216794
NM_000076.2(CDKN1C):c.91C>A (p.Arg31Ser) rs1467420956
NM_000076.2(CDKN1C):c.91C>T (p.Arg31Cys)
NM_000076.2:c.494_565delTCGCGGCTCCGGTCGCGGCTCCGGTCGCGGTCGCGGTCCTGGCCCCGGCCCCGGCCCCGGCTCCGGCTCCGG
NM_000084.4(CLCN5):c.*1160del rs782607038
NM_000084.4(CLCN5):c.*1292C>T rs781855238
NM_000084.4(CLCN5):c.*1564_*1567del rs1057515934
NM_000084.4(CLCN5):c.*1723G>A rs781902814
NM_000084.4(CLCN5):c.*1874G>A rs1053041096
NM_000084.4(CLCN5):c.*2270A>G rs1057515936
NM_000084.4(CLCN5):c.*2317G>A rs969354356
NM_000084.4(CLCN5):c.*2460G>A rs111452206
NM_000084.4(CLCN5):c.*2479G>A rs782387568
NM_000084.4(CLCN5):c.*2557A>G rs1057515938
NM_000084.4(CLCN5):c.*3071A>G rs1057515939
NM_000084.4(CLCN5):c.*3090C>T rs1057515940
NM_000084.4(CLCN5):c.*3627C>T rs1057515941
NM_000084.4(CLCN5):c.*3937C>A rs1057515942
NM_000084.4(CLCN5):c.*4297A>C rs868964422
NM_000084.4(CLCN5):c.*477G>A rs1035298488
NM_000084.4(CLCN5):c.*504G>C rs1057515931
NM_000084.4(CLCN5):c.*5349del rs1057515944
NM_000084.4(CLCN5):c.*5815T>C rs1057515945
NM_000084.4(CLCN5):c.*5895T>A rs1057515947
NM_000084.4(CLCN5):c.*5899_*5900del rs1057515946
NM_000084.4(CLCN5):c.*6240G>C rs782177733
NM_000084.4(CLCN5):c.*6608C>T rs1016988265
NM_000084.4(CLCN5):c.*6638G>A rs963123113
NM_000084.4(CLCN5):c.*969A>C rs1057515932
NM_000084.4(CLCN5):c.-178C>T rs781792158
NM_000084.4(CLCN5):c.-205G>A rs905143179
NM_000084.4(CLCN5):c.-48+1G>T
NM_000084.4(CLCN5):c.1033C>T (p.Arg345Trp) rs782817681
NM_000084.4(CLCN5):c.1256C>T (p.Pro419Leu)
NM_000084.4(CLCN5):c.1606G>A (p.Val536Met) rs782060809
NM_000084.4(CLCN5):c.2095G>A (p.Val699Ile) rs201962580
NM_000084.4(CLCN5):c.486G>A (p.Ala162=) rs140312372
NM_000084.4(CLCN5):c.715C>T (p.Arg239Cys) rs782056386
NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133
NM_000091.4(COL4A3):c.*1000C>T rs770149608
NM_000091.4(COL4A3):c.*1032G>A rs886055744
NM_000091.4(COL4A3):c.*1069_*1070delAA rs11297279
NM_000091.4(COL4A3):c.*1069_*1070dupAA rs11297279
NM_000091.4(COL4A3):c.*1070delA rs11297279
NM_000091.4(COL4A3):c.*1070dupA rs11297279
NM_000091.4(COL4A3):c.*1071G>A rs866036167
NM_000091.4(COL4A3):c.*1645delG rs886055747
NM_000091.4(COL4A3):c.*1739C>T rs750139996
NM_000091.4(COL4A3):c.*1764A>G rs577379452
NM_000091.4(COL4A3):c.*1918T>C rs767668198
NM_000091.4(COL4A3):c.*2048C>G rs886055748
NM_000091.4(COL4A3):c.*2145A>C rs115394347
NM_000091.4(COL4A3):c.*2180C>T rs886055749
NM_000091.4(COL4A3):c.*2182C>T rs114535536
NM_000091.4(COL4A3):c.*2228T>C rs367785196
NM_000091.4(COL4A3):c.*2272T>C rs886055750
NM_000091.4(COL4A3):c.*2308T>C rs886055751
NM_000091.4(COL4A3):c.*406G>A rs759265728
NM_000091.4(COL4A3):c.*647T>G rs183552783
NM_000091.4(COL4A3):c.*660T>C rs557009121
NM_000091.4(COL4A3):c.*811A>C rs116568659
NM_000091.4(COL4A3):c.-134T>C rs886055734
NM_000091.4(COL4A3):c.-13G>C rs770803750
NM_000091.4(COL4A3):c.-146G>C rs886055733
NM_000091.4(COL4A3):c.-16T>C rs886055736
NM_000091.4(COL4A3):c.-81G>C rs886055735
NM_000091.4(COL4A3):c.1022G>A (p.Arg341His)
NM_000091.4(COL4A3):c.112C>G (p.Gln38Glu) rs201607115
NM_000091.4(COL4A3):c.1156_1158delTCA (p.Ser386del) rs1553755078
NM_000091.4(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986
NM_000091.4(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913
NM_000091.4(COL4A3):c.1367_1369delATC (p.Tyr456del) rs762420854
NM_000091.4(COL4A3):c.1423C>G (p.Leu475Val) rs886055738
NM_000091.4(COL4A3):c.1459G>T (p.Gly487Cys) rs745472969
NM_000091.4(COL4A3):c.145G>A (p.Gly49Arg) rs1553749403
NM_000091.4(COL4A3):c.1483C>T (p.His495Tyr) rs200510532
NM_000091.4(COL4A3):c.1516G>A (p.Ala506Thr) rs188967260
NM_000091.4(COL4A3):c.1687G>A (p.Gly563Arg) rs1553757060
NM_000091.4(COL4A3):c.172G>A (p.Gly58Ser) rs184730597
NM_000091.4(COL4A3):c.1892G>T (p.Gly631Val)
NM_000091.4(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437
NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.4(COL4A3):c.1928-4T>C rs376327706
NM_000091.4(COL4A3):c.1978C>A (p.Pro660Thr)
NM_000091.4(COL4A3):c.2021-9G>C rs773021303
NM_000091.4(COL4A3):c.2115T>A (p.Pro705=) rs201419174
NM_000091.4(COL4A3):c.221C>T (p.Pro74Leu) rs373975901
NM_000091.4(COL4A3):c.2374+9dup rs1553759691
NM_000091.4(COL4A3):c.2489-8G>A rs201846272
NM_000091.4(COL4A3):c.250C>A (p.Pro84Thr)
NM_000091.4(COL4A3):c.2610G>A (p.Leu870=) rs886039889
NM_000091.4(COL4A3):c.2747-11C>A rs886055739
NM_000091.4(COL4A3):c.2765G>T (p.Gly922Val) rs920413118
NM_000091.4(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530
NM_000091.4(COL4A3):c.2881+6G>T rs886055740
NM_000091.4(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.4(COL4A3):c.3189_3197dup (p.Pro1069_Thr1070insProGlyPro) rs1553762295
NM_000091.4(COL4A3):c.3196C>T (p.Pro1066Ser) rs377003650
NM_000091.4(COL4A3):c.3200C>G (p.Pro1067Arg) rs55849096
NM_000091.4(COL4A3):c.3228G>A (p.Pro1076=) rs200125890
NM_000091.4(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.4(COL4A3):c.3270A>C (p.Pro1090=) rs201989155
NM_000091.4(COL4A3):c.3416C>T (p.Pro1139Leu) rs1057516186
NM_000091.4(COL4A3):c.3419-8T>G rs754483986
NM_000091.4(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291
NM_000091.4(COL4A3):c.3566-10T>C rs114719458
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.3662_3664delAAG (p.Glu1221del) rs756342074
NM_000091.4(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401
NM_000091.4(COL4A3):c.3790A>G (p.Ile1264Val) rs1553764410
NM_000091.4(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500
NM_000091.4(COL4A3):c.386A>C (p.Lys129Thr) rs886055737
NM_000091.4(COL4A3):c.3882+10G>A rs78980950
NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) rs141552752
NM_000091.4(COL4A3):c.3945A>G (p.Pro1315=) rs189574905
NM_000091.4(COL4A3):c.3956-8_3956-5delGTTT rs779522146
NM_000091.4(COL4A3):c.39_47dup (p.Leu17_Leu18insProLeuLeu) rs1476762825
NM_000091.4(COL4A3):c.4100G>C (p.Gly1367Ala) rs886055742
NM_000091.4(COL4A3):c.4153+10T>C rs865866667
NM_000091.4(COL4A3):c.4253-14T>C rs747386514
NM_000091.4(COL4A3):c.4295G>A (p.Arg1432His) rs200509072
NM_000091.4(COL4A3):c.4326_4328delAAC (p.Thr1443del) rs941454321
NM_000091.4(COL4A3):c.441G>A (p.Pro147=) rs373559251
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.443G>T (p.Gly148Val) rs775373641
NM_000091.4(COL4A3):c.4482G>A (p.Leu1494=) rs181952966
NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=) rs200454769
NM_000091.4(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.4(COL4A3):c.4504T>C (p.Phe1502Leu) rs1553766367
NM_000091.4(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013
NM_000091.4(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461
NM_000091.4(COL4A3):c.4615_4617dup (p.Arg1539_Ala1540insArg) rs773268719
NM_000091.4(COL4A3):c.4691C>T (p.Thr1564Ile) rs886055743
NM_000091.4(COL4A3):c.469G>C (p.Gly157Arg) rs764451365
NM_000091.4(COL4A3):c.4756-13A>T rs190701197
NM_000091.4(COL4A3):c.4798_4800delTCC (p.Ser1600del) rs775551399
NM_000091.4(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.4(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.4976dup (p.Ser1660Lysfs) rs1553766929
NM_000091.4(COL4A3):c.4977_4979dup (p.Ile1659_Ser1660insArg) rs1553766932
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000091.4(COL4A3):c.5010_*14del18 rs765655100
NM_000091.4(COL4A3):c.516C>T (p.Asp172=) rs759455097
NM_000091.4(COL4A3):c.688-8G>T rs748843785
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000092.4(COL4A4):c.*1073delC rs149522920
NM_000092.4(COL4A4):c.*1112G>A rs886055717
NM_000092.4(COL4A4):c.*1242C>T rs886055716
NM_000092.4(COL4A4):c.*128G>A rs886055722
NM_000092.4(COL4A4):c.*1346T>C rs55869005
NM_000092.4(COL4A4):c.*1349A>C rs886055715
NM_000092.4(COL4A4):c.*1423T>C rs886055714
NM_000092.4(COL4A4):c.*1687T>G rs538453112
NM_000092.4(COL4A4):c.*1802T>A rs886055713
NM_000092.4(COL4A4):c.*1914A>T rs886055712
NM_000092.4(COL4A4):c.*2033G>A rs886055711
NM_000092.4(COL4A4):c.*2069T>C rs886055710
NM_000092.4(COL4A4):c.*2119_*2120dupAA rs56983325
NM_000092.4(COL4A4):c.*2120dupA rs56983325
NM_000092.4(COL4A4):c.*2259G>A rs886055708
NM_000092.4(COL4A4):c.*22C>A rs562265530
NM_000092.4(COL4A4):c.*2311C>T rs77079951
NM_000092.4(COL4A4):c.*2945T>C rs886055707
NM_000092.4(COL4A4):c.*3159C>A rs559222889
NM_000092.4(COL4A4):c.*321A>G rs886055721
NM_000092.4(COL4A4):c.*3269A>G rs185029960
NM_000092.4(COL4A4):c.*3299A>G rs886055706
NM_000092.4(COL4A4):c.*3410_*3411delTT rs528949461
NM_000092.4(COL4A4):c.*3461A>G rs886055705
NM_000092.4(COL4A4):c.*3467C>G rs752632630
NM_000092.4(COL4A4):c.*3636C>T rs147995299
NM_000092.4(COL4A4):c.*3639T>C rs193239835
NM_000092.4(COL4A4):c.*3690A>G rs149243282
NM_000092.4(COL4A4):c.*3712T>G rs535103151
NM_000092.4(COL4A4):c.*3876G>A rs184473858
NM_000092.4(COL4A4):c.*3938A>G rs192161029
NM_000092.4(COL4A4):c.*3940T>C rs886055704
NM_000092.4(COL4A4):c.*3948C>T rs886055703
NM_000092.4(COL4A4):c.*4004_*4005delAA rs532937469
NM_000092.4(COL4A4):c.*4102dupT rs370056635
NM_000092.4(COL4A4):c.*4106C>A rs886055702
NM_000092.4(COL4A4):c.*4135A>T rs886055701
NM_000092.4(COL4A4):c.*4164C>T rs147109071
NM_000092.4(COL4A4):c.*4173A>T rs529259159
NM_000092.4(COL4A4):c.*4369C>T rs886055700
NM_000092.4(COL4A4):c.*4385A>G rs574071910
NM_000092.4(COL4A4):c.*4393G>T rs886055699
NM_000092.4(COL4A4):c.*4534T>C rs767613572
NM_000092.4(COL4A4):c.*4583A>G rs886055698
NM_000092.4(COL4A4):c.*472A>T rs77268230
NM_000092.4(COL4A4):c.*48G>A rs767600758
NM_000092.4(COL4A4):c.*569C>A rs772402371
NM_000092.4(COL4A4):c.*755T>C rs191394048
NM_000092.4(COL4A4):c.*833C>T rs886055720
NM_000092.4(COL4A4):c.*841G>A rs11556632
NM_000092.4(COL4A4):c.*857G>A rs80142712
NM_000092.4(COL4A4):c.*863C>G rs886055719
NM_000092.4(COL4A4):c.*864C>G rs886055718
NM_000092.4(COL4A4):c.-102+10C>G rs867845285
NM_000092.4(COL4A4):c.-134C>G rs530247030
NM_000092.4(COL4A4):c.-177G>A rs886055730
NM_000092.4(COL4A4):c.-341G>A rs886055731
NM_000092.4(COL4A4):c.-408G>A rs554839865
NM_000092.4(COL4A4):c.-527G>A rs886055732
NM_000092.4(COL4A4):c.-555G>A rs79908084
NM_000092.4(COL4A4):c.-79C>T rs55836847
NM_000092.4(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841
NM_000092.4(COL4A4):c.1379G>A (p.Cys460Tyr)
NM_000092.4(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475
NM_000092.4(COL4A4):c.1767T>A (p.Asp589Glu) rs886055727
NM_000092.4(COL4A4):c.1820C>T (p.Ala607Val)
NM_000092.4(COL4A4):c.1893A>G (p.Gly631=) rs370886041
NM_000092.4(COL4A4):c.190C>T (p.Arg64Trp) rs200668675
NM_000092.4(COL4A4):c.193-9C>G rs190570269
NM_000092.4(COL4A4):c.1963C>T (p.Pro655Ser) rs886055726
NM_000092.4(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416
NM_000092.4(COL4A4):c.204_212del9 (p.Pro70_Pro72del) rs764884579
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
NM_000092.4(COL4A4):c.2138_2143dup (p.Thr714_Ala715insGlyThr) rs777985749
NM_000092.4(COL4A4):c.2152_2154dup (p.Pro718_Gly719insPro) rs1553644306
NM_000092.4(COL4A4):c.2159C>T (p.Pro720Leu) rs749186337
NM_000092.4(COL4A4):c.2171G>A (p.Arg724His) rs200146486
NM_000092.4(COL4A4):c.2335C>G (p.Pro779Ala) rs886055725
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2378C>T (p.Ala793Val) rs377676207
NM_000092.4(COL4A4):c.2383+2_2383+5dup rs1553643488
NM_000092.4(COL4A4):c.2399C>G (p.Pro800Arg) rs200714000
NM_000092.4(COL4A4):c.2430C>G (p.Gly810=) rs769363556
NM_000092.4(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472
NM_000092.4(COL4A4):c.2549C>T (p.Ala850Val) rs758199486
NM_000092.4(COL4A4):c.2586T>C (p.Pro862=) rs761238651
NM_000092.4(COL4A4):c.2628_2654dup27 (p.Gly885_Leu886insArgProGlyAlaHisGlyProProGly) rs1553641597
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2717-15C>A rs143886681
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2756A>G (p.Glu919Gly)
NM_000092.4(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400
NM_000092.4(COL4A4):c.2877C>T (p.Pro959=) rs79470996
NM_000092.4(COL4A4):c.2985C>T (p.Pro995=) rs79261248
NM_000092.4(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166
NM_000092.4(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652
NM_000092.4(COL4A4):c.3089G>T (p.Gly1030Val) rs772699709
NM_000092.4(COL4A4):c.3103A>G (p.Thr1035Ala) rs1553638898
NM_000092.4(COL4A4):c.347G>A (p.Gly116Glu) rs1553696235
NM_000092.4(COL4A4):c.3577+14C>T rs370328730
NM_000092.4(COL4A4):c.3587_3589delATG (p.Asp1196del) rs780991255
NM_000092.4(COL4A4):c.3770C>T (p.Pro1257Leu) rs755884665
NM_000092.4(COL4A4):c.3829C>T (p.Pro1277Ser) rs1037084154
NM_000092.4(COL4A4):c.3849T>A (p.Ser1283Arg) rs1553625644
NM_000092.4(COL4A4):c.3878A>G (p.Asp1293Gly)
NM_000092.4(COL4A4):c.3976C>A (p.Pro1326Thr) rs754359129
NM_000092.4(COL4A4):c.3983G>C (p.Gly1328Ala) rs1553624173
NM_000092.4(COL4A4):c.4003C>G (p.Pro1335Ala) rs1331634432
NM_000092.4(COL4A4):c.4021C>A (p.Pro1341Thr) rs539867676
NM_000092.4(COL4A4):c.4035G>C (p.Lys1345Asn) rs1369617472
NM_000092.4(COL4A4):c.4041A>T (p.Leu1347Phe) rs16823077
NM_000092.4(COL4A4):c.4049C>T (p.Pro1350Leu) rs771916354
NM_000092.4(COL4A4):c.4058G>A (p.Arg1353Lys) rs747708741
NM_000092.4(COL4A4):c.4070C>T (p.Thr1357Ile) rs1258564025
NM_000092.4(COL4A4):c.4081+14C>T rs1553623984
NM_000092.4(COL4A4):c.4082-8C>T rs139571413
NM_000092.4(COL4A4):c.4090+14T>C rs147376687
NM_000092.4(COL4A4):c.410G>A (p.Gly137Asp) rs377511303
NM_000092.4(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087
NM_000092.4(COL4A4):c.4217-15T>C rs200926310
NM_000092.4(COL4A4):c.4217G>C (p.Gly1406Ala) rs1364711591
NM_000092.4(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.4(COL4A4):c.4298G>A (p.Gly1433Asp) rs1553614863
NM_000092.4(COL4A4):c.4333+3A>G rs1455105815
NM_000092.4(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704
NM_000092.4(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000092.4(COL4A4):c.4417C>A (p.Gln1473Lys) rs766771700
NM_000092.4(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111
NM_000092.4(COL4A4):c.4423G>T (p.Asp1475Tyr) rs767457222
NM_000092.4(COL4A4):c.4440C>G (p.Cys1480Trp)
NM_000092.4(COL4A4):c.4472A>G (p.Tyr1491Cys) rs1553613772
NM_000092.4(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516
NM_000092.4(COL4A4):c.4673C>T (p.Ala1558Val) rs760044982
NM_000092.4(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262
NM_000092.4(COL4A4):c.4718C>T (p.Ala1573Val)
NM_000092.4(COL4A4):c.4725G>A (p.Ala1575=) rs886055724
NM_000092.4(COL4A4):c.4730_4732del (p.Ala1577del)
NM_000092.4(COL4A4):c.475C>T (p.Pro159Ser)
NM_000092.4(COL4A4):c.480_482dup (p.Gly161_Pro162insGly) rs1553695272
NM_000092.4(COL4A4):c.4817G>A (p.Gly1606Glu) rs767901025
NM_000092.4(COL4A4):c.4836_4838delAGG (p.Gly1613del) rs768416358
NM_000092.4(COL4A4):c.4857T>C (p.Pro1619=) rs184776061
NM_000092.4(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723
NM_000092.4(COL4A4):c.4982T>A (p.Phe1661Tyr)
NM_000092.4(COL4A4):c.5015A>C (p.Glu1672Ala)
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.5029C>T (p.Arg1677Cys) rs759631057
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377
NM_000092.4(COL4A4):c.5073G>C (p.Ter1691Tyr) rs769660371
NM_000092.4(COL4A4):c.541G>T (p.Ala181Ser) rs200707549
NM_000092.4(COL4A4):c.665C>T (p.Pro222Leu) rs773533313
NM_000092.4(COL4A4):c.673C>A (p.Pro225Thr)
NM_000092.4(COL4A4):c.735G>A (p.Pro245=)
NM_000092.4(COL4A4):c.736-10T>G rs201175819
NM_000092.4(COL4A4):c.816+12A>T rs886055728
NM_000092.4(COL4A4):c.928C>T (p.Arg310Trp) rs200817090
NM_000092.4(COL4A4):c.931-14dupT rs746509796
NM_000097.5(CPOX):c.*1076G>A rs775384142
NM_000097.5(CPOX):c.*1153G>C rs886058941
NM_000097.5(CPOX):c.*1174G>A rs886058940
NM_000097.5(CPOX):c.*194G>T rs886058946
NM_000097.5(CPOX):c.*340A>G rs886058945
NM_000097.5(CPOX):c.*498_*499insCA rs886058944
NM_000097.5(CPOX):c.*506C>T rs886058943
NM_000097.5(CPOX):c.*633A>C rs886058942
NM_000097.5(CPOX):c.*66G>A rs886058947
NM_000097.5(CPOX):c.-43G>C rs763595872
NM_000097.5(CPOX):c.1108A>G (p.Lys370Glu) rs778583962
NM_000097.5(CPOX):c.125G>C (p.Ser42Thr) rs886058951
NM_000097.5(CPOX):c.130G>T (p.Ala44Ser) rs886058950
NM_000097.5(CPOX):c.156C>G (p.Gly52=) rs886058949
NM_000097.5(CPOX):c.167C>T (p.Thr56Met) rs886058948
NM_000097.5(CPOX):c.299A>T (p.Glu100Val) rs367822877
NM_000097.5(CPOX):c.348G>C (p.Pro116=) rs140566686
NM_000097.5(CPOX):c.487G>T (p.Val163Leu) rs535432218
NM_000097.5(CPOX):c.651A>G (p.Glu217=) rs138479596
NM_000097.5(CPOX):c.86A>C (p.Gln29Pro) rs886058952
NM_000097.7(CPOX):c.-10G>A rs867711777
NM_000102.3(CYP17A1):c.*130C>T rs886046665
NM_000102.3(CYP17A1):c.*165dupT rs45455494
NM_000102.3(CYP17A1):c.*65C>A rs537220295
NM_000102.3(CYP17A1):c.*67C>A rs886046666
NM_000102.3(CYP17A1):c.-14G>A rs17115125
NM_000102.3(CYP17A1):c.-15C>T rs140012815
NM_000102.3(CYP17A1):c.-166G>C rs58519757
NM_000102.3(CYP17A1):c.-30dupG rs886046667
NM_000102.3(CYP17A1):c.1269C>G (p.Thr423=) rs554217514
NM_000102.3(CYP17A1):c.1363A>G (p.Ile455Val) rs138630127
NM_000102.3(CYP17A1):c.1435_1438dupATCC (p.Pro480Hisfs) rs556794126
NM_000102.3(CYP17A1):c.298-11G>C rs188885755
NM_000102.3(CYP17A1):c.628A>G (p.Ser210Gly) rs142435666
NM_000102.3(CYP17A1):c.62G>A (p.Arg21Lys) rs61754263
NM_000102.3(CYP17A1):c.847G>C (p.Asp283His) rs746480412
NM_000120.3(EPHX1):c.823A>G (p.Thr275Ala)
NM_000130.4(F5):c.*104A>C rs886045540
NM_000130.4(F5):c.*1170G>A rs191866237
NM_000130.4(F5):c.*1290G>A rs9332677
NM_000130.4(F5):c.*1432C>T rs886045536
NM_000130.4(F5):c.*1488T>C rs75764442
NM_000130.4(F5):c.*149C>G rs534748300
NM_000130.4(F5):c.*157A>T rs886045539
NM_000130.4(F5):c.*1780G>T rs559071301
NM_000130.4(F5):c.*1939T>C rs886045535
NM_000130.4(F5):c.*2053G>C rs886045534
NM_000130.4(F5):c.*216T>A rs186962725
NM_000130.4(F5):c.*363T>G rs115882472
NM_000130.4(F5):c.*390C>T rs886045538
NM_000130.4(F5):c.*396C>A rs181328696
NM_000130.4(F5):c.*400C>G rs886045537
NM_000130.4(F5):c.*441C>T rs188490117
NM_000130.4(F5):c.*476C>T rs72708017
NM_000130.4(F5):c.*581C>A rs180742904
NM_000130.4(F5):c.*598T>G rs544753372
NM_000130.4(F5):c.*762G>A rs753366128
NM_000130.4(F5):c.*838T>C rs376103455
NM_000130.4(F5):c.*891A>G rs9332674
NM_000130.4(F5):c.-110C>A rs886045552
NM_000130.4(F5):c.-40T>C rs41272465
NM_000130.4(F5):c.-84G>A rs543172813
NM_000130.4(F5):c.1034G>A (p.Arg345Gln) rs201078171
NM_000130.4(F5):c.1106C>T (p.Ala369Val) rs200934105
NM_000130.4(F5):c.111T>A (p.Ala37=) rs537081933
NM_000130.4(F5):c.1300G>A (p.Val434Met) rs574610215
NM_000130.4(F5):c.1391C>T (p.Thr464Ile) rs141768227
NM_000130.4(F5):c.1545C>T (p.Ile515=) rs886045551
NM_000130.4(F5):c.1624A>G (p.Ile542Val) rs776949074
NM_000130.4(F5):c.1659G>A (p.Glu553=) rs370739570
NM_000130.4(F5):c.165T>C (p.Asn55=) rs781434840
NM_000130.4(F5):c.1785G>A (p.Glu595=) rs112333778
NM_000130.4(F5):c.2042A>G (p.Asp681Gly) rs886045550
NM_000130.4(F5):c.2222A>G (p.Asn741Ser) rs144979314
NM_000130.4(F5):c.2247_2249delAGA (p.Glu750del) rs575766548
NM_000130.4(F5):c.2864G>T (p.Ser955Ile) rs199507543
NM_000130.4(F5):c.2868T>C (p.Tyr956=) rs149067268
NM_000130.4(F5):c.2906A>G (p.Asn969Ser) rs9332604
NM_000130.4(F5):c.3211C>T (p.His1071Tyr) rs146408488
NM_000130.4(F5):c.3255A>C (p.Thr1085=) rs6006
NM_000130.4(F5):c.3261C>G (p.Pro1087=) rs886045549
NM_000130.4(F5):c.3307A>T (p.Asn1103Tyr) rs886045548
NM_000130.4(F5):c.3311C>A (p.Ser1104Tyr) rs188882337
NM_000130.4(F5):c.3402C>A (p.Asp1134Glu) rs373880789
NM_000130.4(F5):c.3442T>C (p.Ser1148Pro) rs369276714
NM_000130.4(F5):c.3455A>C (p.Glu1152Ala) rs543751483
NM_000130.4(F5):c.3801T>C (p.Leu1267=) rs559683767
NM_000130.4(F5):c.3851C>T (p.Thr1284Ile) rs139573207
NM_000130.4(F5):c.3949G>A (p.Gly1317Ser) rs149048805
NM_000130.4(F5):c.4035A>G (p.Gln1345=) rs886045547
NM_000130.4(F5):c.4309A>T (p.Thr1437Ser) rs115148599
NM_000130.4(F5):c.4333A>G (p.Thr1445Ala) rs200204656
NM_000130.4(F5):c.4356C>A (p.Ser1452Arg) rs751749207
NM_000130.4(F5):c.437G>A (p.Arg146Gln) rs145625079
NM_000130.4(F5):c.4405T>C (p.Ser1469Pro) rs144262027
NM_000130.4(F5):c.4835A>T (p.Asp1612Val) rs141589936
NM_000130.4(F5):c.4959T>A (p.Asp1653Glu) rs886045546
NM_000130.4(F5):c.4972-14A>C rs763080313
NM_000130.4(F5):c.5054C>G (p.Thr1685Ser) rs6011
NM_000130.4(F5):c.5124C>T (p.Tyr1708=) rs199568344
NM_000130.4(F5):c.5209-12_5209-11delCT rs886045545
NM_000130.4(F5):c.524A>G (p.His175Arg) rs201510575
NM_000130.4(F5):c.5265A>G (p.Ile1755Met)
NM_000130.4(F5):c.5308G>A (p.Val1770Ile) rs374815777
NM_000130.4(F5):c.5332G>C (p.Glu1778Gln) rs886045544
NM_000130.4(F5):c.538G>A (p.Glu180Lys) rs143152035
NM_000130.4(F5):c.5419+11C>G rs6008
NM_000130.4(F5):c.5490G>A (p.Leu1830=) rs149092241
NM_000130.4(F5):c.5534A>G (p.His1845Arg) rs200865371
NM_000130.4(F5):c.5558G>T (p.Gly1853Val) rs182566496
NM_000130.4(F5):c.5589C>A (p.Pro1863=) rs148772659
NM_000130.4(F5):c.5721T>C (p.Cys1907=) rs886045543
NM_000130.4(F5):c.5788+4A>T rs759428783
NM_000130.4(F5):c.6164G>A (p.Arg2055Gln) rs886045542
NM_000130.4(F5):c.6309G>A (p.Leu2103=) rs35369423
NM_000130.4(F5):c.6360G>A (p.Lys2120=) rs757104503
NM_000130.4(F5):c.6459T>C (p.Tyr2153=) rs773618429
NM_000130.4(F5):c.6589A>G (p.Ile2197Val) rs372005449
NM_000130.4(F5):c.6629A>T (p.Gln2210Leu) rs886045541
NM_000130.4(F5):c.738A>G (p.Thr246=) rs375739973
NM_000130.4(F5):c.885C>T (p.Thr295=) rs148752831
NM_000130.4(F5):c.886G>A (p.Ala296Thr) rs748350385
NM_000130.4(F5):c.936C>T (p.Thr312=) rs758832130
NM_000135.2(FANCA):c.*1012A>G rs886052477
NM_000135.2(FANCA):c.*146C>T rs556325258
NM_000135.2(FANCA):c.*166G>A rs886052479
NM_000135.2(FANCA):c.*317G>A rs201817705
NM_000135.2(FANCA):c.*447T>C rs771942409
NM_000135.2(FANCA):c.*521C>T rs144644592
NM_000135.2(FANCA):c.*654C>T rs17227438
NM_000135.2(FANCA):c.*819T>C rs186050933
NM_000135.2(FANCA):c.*843C>T rs201316239
NM_000135.2(FANCA):c.*851G>A rs886052478
NM_000135.2(FANCA):c.*937A>G rs55794507
NM_000135.2(FANCA):c.-18G>A rs886038245
NM_000135.2(FANCA):c.-28C>G rs886052490
NM_000135.2(FANCA):c.1007-7C>G rs111271660
NM_000135.2(FANCA):c.1072C>G (p.Leu358Val) rs748337423
NM_000135.2(FANCA):c.1209G>A (p.Ala403=) rs773318145
NM_000135.2(FANCA):c.1328C>G (p.Ser443Cys) rs367733447
NM_000135.2(FANCA):c.133G>A (p.Glu45Lys) rs142990858
NM_000135.2(FANCA):c.1340C>T (p.Ser447Leu) rs149551759
NM_000135.2(FANCA):c.1359+10C>T rs34159559
NM_000135.2(FANCA):c.1424C>T (p.Thr475Met) rs761957732
NM_000135.2(FANCA):c.1471-12A>G rs9282684
NM_000135.2(FANCA):c.1475A>T (p.His492Leu) rs925457555
NM_000135.2(FANCA):c.1480C>T (p.Leu494Phe) rs1060501886
NM_000135.2(FANCA):c.1501_1502insTGGTTCCCA (p.Gly501delinsValValProSer) rs878853661
NM_000135.2(FANCA):c.1518C>T (p.Leu506=) rs781524409
NM_000135.2(FANCA):c.1567-11C>A rs34353618
NM_000135.2(FANCA):c.157A>C (p.Ser53Arg) rs61757383
NM_000135.2(FANCA):c.1675G>A (p.Glu559Lys) rs201323171
NM_000135.2(FANCA):c.1737C>T (p.Tyr579=) rs529199293
NM_000135.2(FANCA):c.1772G>A (p.Arg591Gln) rs778093769
NM_000135.2(FANCA):c.1777-15C>G rs371919426
NM_000135.2(FANCA):c.178C>T (p.Leu60Phe) rs1060501885
NM_000135.2(FANCA):c.189+12C>G rs753101174
NM_000135.2(FANCA):c.1901-3C>A rs17226526
NM_000135.2(FANCA):c.1901-9T>G rs886052486
NM_000135.2(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.2(FANCA):c.1990A>G (p.Met664Val) rs748579719
NM_000135.2(FANCA):c.2203A>G (p.Ser735Gly) rs886052485
NM_000135.2(FANCA):c.2228G>A (p.Gly743Asp) rs763187355
NM_000135.2(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.2(FANCA):c.2239G>A (p.Ala747Thr) rs931143821
NM_000135.2(FANCA):c.2316+9C>T rs776301232
NM_000135.2(FANCA):c.2395C>T (p.Pro799Ser) rs762439008
NM_000135.2(FANCA):c.23A>G (p.Asn8Ser) rs757468756
NM_000135.2(FANCA):c.2432G>A (p.Gly811Asp) rs201152989
NM_000135.2(FANCA):c.2567T>C (p.Leu856Ser) rs370085403
NM_000135.2(FANCA):c.2570G>A (p.Cys857Tyr) rs886052484
NM_000135.2(FANCA):c.2593A>G (p.Ile865Val) rs878853662
NM_000135.2(FANCA):c.2601G>C (p.Lys867Asn) rs746889340
NM_000135.2(FANCA):c.2602-14A>C rs886052483
NM_000135.2(FANCA):c.2602-9_2602-8delCT rs577636020
NM_000135.2(FANCA):c.2778+10C>T rs371786839
NM_000135.2(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.2(FANCA):c.284-9G>C rs367672895
NM_000135.2(FANCA):c.2903C>T (p.Ser968Leu) rs779162871
NM_000135.2(FANCA):c.2941T>C (p.Cys981Arg) rs191943709
NM_000135.2(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.2(FANCA):c.2968G>A (p.Asp990Asn) rs1060501883
NM_000135.2(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675
NM_000135.2(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.2(FANCA):c.3138C>T (p.His1046=) rs150884376
NM_000135.2(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033
NM_000135.2(FANCA):c.3158G>A (p.Arg1053His) rs371351450
NM_000135.2(FANCA):c.3181A>G (p.Ser1061Gly) rs369878171
NM_000135.2(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.2(FANCA):c.3297G>C (p.Gln1099His) rs779268656
NM_000135.2(FANCA):c.3348+7G>T rs185527578
NM_000135.2(FANCA):c.3352A>G (p.Asn1118Asp) rs371208490
NM_000135.2(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.2(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872
NM_000135.2(FANCA):c.3476G>C (p.Cys1159Ser) rs762837582
NM_000135.2(FANCA):c.3514-13G>A rs200270574
NM_000135.2(FANCA):c.3531G>A (p.Leu1177=) rs886052482
NM_000135.2(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303
NM_000135.2(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.2(FANCA):c.3698C>T (p.Ala1233Val) rs545742908
NM_000135.2(FANCA):c.3701T>C (p.Ile1234Thr) rs886052481
NM_000135.2(FANCA):c.3703C>G (p.Gln1235Glu) rs769919783
NM_000135.2(FANCA):c.3718G>C (p.Glu1240Gln) rs150719428
NM_000135.2(FANCA):c.3761A>T (p.Glu1254Val) rs750773229
NM_000135.2(FANCA):c.3766-14G>A rs34476949
NM_000135.2(FANCA):c.377C>T (p.Thr126Met) rs139160837
NM_000135.2(FANCA):c.3825A>G (p.Ser1275=) rs886052480
NM_000135.2(FANCA):c.3850G>C (p.Ala1284Pro) rs142919010
NM_000135.2(FANCA):c.3858C>A (p.His1286Gln) rs761705192
NM_000135.2(FANCA):c.386C>T (p.Ala129Val) rs577625130
NM_000135.2(FANCA):c.3901T>A (p.Ser1301Thr) rs765162125
NM_000135.2(FANCA):c.3904T>C (p.Trp1302Arg) rs878853665
NM_000135.2(FANCA):c.3935-6T>C rs368376237
NM_000135.2(FANCA):c.3935-9G>A rs9282680
NM_000135.2(FANCA):c.3937C>T (p.Leu1313Phe) rs551306400
NM_000135.2(FANCA):c.3949C>T (p.Arg1317Trp) rs200215131
NM_000135.2(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966
NM_000135.2(FANCA):c.3999C>T (p.Phe1333=) rs774576283
NM_000135.2(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.2(FANCA):c.4064A>T (p.His1355Leu) rs145886270
NM_000135.2(FANCA):c.4084T>G (p.Leu1362Val) rs775351812
NM_000135.2(FANCA):c.4113G>T (p.Gly1371=) rs1060501882
NM_000135.2(FANCA):c.4199G>A (p.Arg1400His) rs149851163
NM_000135.2(FANCA):c.41A>G (p.Asp14Gly) rs762648754
NM_000135.2(FANCA):c.4225C>T (p.Arg1409Trp) rs139478274
NM_000135.2(FANCA):c.4252G>A (p.Val1418Met) rs145148206
NM_000135.2(FANCA):c.46G>C (p.Gly16Arg) rs943773590
NM_000135.2(FANCA):c.480G>A (p.Met160Ile) rs200603300
NM_000135.2(FANCA):c.577C>G (p.Leu193Val) rs141861208
NM_000135.2(FANCA):c.590T>C (p.Leu197Pro) rs886052488
NM_000135.2(FANCA):c.59G>A (p.Arg20Lys) rs376307136
NM_000135.2(FANCA):c.623C>T (p.Ser208Leu) rs144420697
NM_000135.2(FANCA):c.661A>G (p.Met221Val) rs150924963
NM_000135.2(FANCA):c.685G>A (p.Asp229Asn) rs148419748
NM_000135.2(FANCA):c.688G>A (p.Val230Ile) rs144560850
NM_000135.2(FANCA):c.695G>A (p.Arg232Lys) rs886052487
NM_000135.2(FANCA):c.74T>G (p.Leu25Arg) rs886052489
NM_000135.2(FANCA):c.752C>T (p.Ser251Leu) rs878853666
NM_000135.2(FANCA):c.793-9T>C rs757500718
NM_000135.2(FANCA):c.812A>C (p.Gln271Pro) rs762721928
NM_000135.2(FANCA):c.81G>A (p.Ala27=) rs150247726
NM_000135.2(FANCA):c.869C>A (p.Ser290Tyr) rs185984960
NM_000135.2(FANCA):c.887G>C (p.Arg296Thr) rs878853667
NM_000135.2(FANCA):c.908G>A (p.Ser303Asn) rs1060501877
NM_000135.2(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000135.3(FANCA):c.1038G>C (p.Trp346Cys) rs750257902
NM_000135.3(FANCA):c.1046C>T (p.Ala349Val) rs142620413
NM_000135.3(FANCA):c.1100G>A (p.Ser367Asn) rs764286584
NM_000135.3(FANCA):c.1244T>C (p.Met415Thr)
NM_000135.3(FANCA):c.1273G>C (p.Asp425His) rs1555561398
NM_000135.3(FANCA):c.1276A>G (p.Ser426Gly) rs985078327
NM_000135.3(FANCA):c.1289C>T (p.Ala430Val)
NM_000135.3(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.3(FANCA):c.1315C>A (p.Leu439Met) rs1307948857
NM_000135.3(FANCA):c.1360-16_1363dup rs1555556321
NM_000135.3(FANCA):c.145C>G (p.Arg49Gly)
NM_000135.3(FANCA):c.1463A>G (p.Tyr488Cys)
NM_000135.3(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.3(FANCA):c.1510C>T (p.Arg504Cys) rs200291237
NM_000135.3(FANCA):c.1549C>T (p.Arg517Trp) rs587778309
NM_000135.3(FANCA):c.1558G>C (p.Asp520His)
NM_000135.3(FANCA):c.1564A>G (p.Lys522Glu) rs1555554630
NM_000135.3(FANCA):c.1566+2C>T rs1316950815
NM_000135.3(FANCA):c.1625A>T (p.Glu542Val) rs587778310
NM_000135.3(FANCA):c.1676A>G (p.Glu559Gly) rs753229112
NM_000135.3(FANCA):c.1682C>T (p.Thr561Met) rs148154682
NM_000135.3(FANCA):c.168_173del (p.Leu57_Asn58del) rs1060501881
NM_000135.3(FANCA):c.1691T>C (p.Ile564Thr)
NM_000135.3(FANCA):c.16_36dup (p.Gly12_Gln13insValProAsnSerAlaSerGly) rs1555581601
NM_000135.3(FANCA):c.1750C>G (p.Leu584Val)
NM_000135.3(FANCA):c.1776+7A>G rs1555552070
NM_000135.3(FANCA):c.186T>A (p.Leu62=) rs1555580352
NM_000135.3(FANCA):c.1871C>G (p.Ala624Gly) rs146491000
NM_000135.3(FANCA):c.1899A>C (p.Glu633Asp) rs768520283
NM_000135.3(FANCA):c.1904C>T (p.Ala635Val) rs142217479
NM_000135.3(FANCA):c.1934C>T (p.Ser645Phe) rs776682683
NM_000135.3(FANCA):c.1960A>G (p.Thr654Ala) rs1555549412
NM_000135.3(FANCA):c.2008C>T (p.Arg670Cys) rs587778312
NM_000135.3(FANCA):c.2015-8del
NM_000135.3(FANCA):c.2029G>A (p.Val677Met) rs767396631
NM_000135.3(FANCA):c.2072A>G (p.Asn691Ser) rs367880372
NM_000135.3(FANCA):c.2090T>A (p.Val697Asp)
NM_000135.3(FANCA):c.2094G>C (p.Glu698Asp) rs201672093
NM_000135.3(FANCA):c.209A>G (p.Lys70Arg) rs55692229
NM_000135.3(FANCA):c.2110C>G (p.Leu704Val) rs1555548507
NM_000135.3(FANCA):c.2134G>A (p.Glu712Lys)
NM_000135.3(FANCA):c.2149A>G (p.Met717Val) rs766173155
NM_000135.3(FANCA):c.2210C>T (p.Ala737Val) rs199938598
NM_000135.3(FANCA):c.2267G>C (p.Arg756Pro) rs137913973
NM_000135.3(FANCA):c.2390C>T (p.Ala797Val) rs138248569
NM_000135.3(FANCA):c.245G>C (p.Ser82Thr)
NM_000135.3(FANCA):c.2495_2497del (p.Phe832del) rs1310756192
NM_000135.3(FANCA):c.2505A>G (p.Lys835=) rs1555546563
NM_000135.3(FANCA):c.2507T>A (p.Phe836Tyr)
NM_000135.3(FANCA):c.2519C>G (p.Ala840Gly) rs587778313
NM_000135.3(FANCA):c.2528A>G (p.Tyr843Cys)
NM_000135.3(FANCA):c.2582C>T (p.Ser861Phe) rs980582362
NM_000135.3(FANCA):c.2594T>G (p.Ile865Ser)
NM_000135.3(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.3(FANCA):c.2607G>C (p.Gln869His) rs1555545583
NM_000135.3(FANCA):c.2658G>C (p.Glu886Asp) rs139002130
NM_000135.3(FANCA):c.265C>T (p.His89Tyr) rs746125523
NM_000135.3(FANCA):c.2669G>A (p.Ser890Asn)
NM_000135.3(FANCA):c.2681G>A (p.Arg894Lys) rs587778316
NM_000135.3(FANCA):c.2706C>G (p.Asp902Glu) rs587778315
NM_000135.3(FANCA):c.2778+83C>G rs750997715
NM_000135.3(FANCA):c.2785T>C (p.Tyr929His)
NM_000135.3(FANCA):c.2800C>A (p.His934Asn)
NM_000135.3(FANCA):c.2826A>C (p.Glu942Asp) rs1217883878
NM_000135.3(FANCA):c.2856G>C (p.Gln952His) rs200093209
NM_000135.3(FANCA):c.2859C>A (p.Asp953Glu) rs149112292
NM_000135.3(FANCA):c.2904G>A (p.Ser968=)
NM_000135.3(FANCA):c.2939C>T (p.Ala980Val) rs773070418
NM_000135.3(FANCA):c.2944A>G (p.Thr982Ala) rs587778317
NM_000135.3(FANCA):c.2959G>C (p.Ala987Pro) rs752735858
NM_000135.3(FANCA):c.2959G>T (p.Ala987Ser) rs752735858
NM_000135.3(FANCA):c.2975A>T (p.His992Leu) rs184007986
NM_000135.3(FANCA):c.2982C>G (p.Ser994Arg) rs1555540072
NM_000135.3(FANCA):c.3000C>G (p.His1000Gln) rs750421982
NM_000135.3(FANCA):c.3032G>A (p.Arg1011His)
NM_000135.3(FANCA):c.3062T>G (p.Leu1021Trp)
NM_000135.3(FANCA):c.3069G>T (p.Glu1023Asp) rs373986283
NM_000135.3(FANCA):c.3115G>A (p.Gly1039Ser)
NM_000135.3(FANCA):c.3149A>C (p.Glu1050Ala)
NM_000135.3(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.3(FANCA):c.317G>C (p.Gly106Ala) rs764893807
NM_000135.3(FANCA):c.3197C>T (p.Ala1066Val)
NM_000135.3(FANCA):c.3230T>A (p.Met1077Lys)
NM_000135.3(FANCA):c.3240-3C>T rs1315428324
NM_000135.3(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824
NM_000135.3(FANCA):c.3349-3C>T rs373861415
NM_000135.3(FANCA):c.3359_3361del (p.Cys1120del) rs1314042335
NM_000135.3(FANCA):c.3361T>C (p.Ser1121Pro)
NM_000135.3(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346
NM_000135.3(FANCA):c.3385G>C (p.Asp1129His) rs768851109
NM_000135.3(FANCA):c.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.3(FANCA):c.3428T>G (p.Leu1143Arg)
NM_000135.3(FANCA):c.343G>A (p.Gly115Arg) rs769824282
NM_000135.3(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000135.3(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.3(FANCA):c.3605_3607del (p.Glu1202del) rs1380850249
NM_000135.3(FANCA):c.3611G>A (p.Arg1204Gln) rs770622823
NM_000135.3(FANCA):c.3623G>A (p.Ser1208Asn)
NM_000135.3(FANCA):c.3623G>T (p.Ser1208Ile) rs1351484293
NM_000135.3(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354
NM_000135.3(FANCA):c.3644C>A (p.Ala1215Asp)
NM_000135.3(FANCA):c.3652C>T (p.Pro1218Ser) rs1555535564
NM_000135.3(FANCA):c.3658C>T (p.Pro1220Ser) rs773150877
NM_000135.3(FANCA):c.3686C>G (p.Ala1229Gly) rs1465548673
NM_000135.3(FANCA):c.3706_3708del (p.Gln1236del) rs1555535513
NM_000135.3(FANCA):c.3725_3727del (p.Ile1242del) rs1441710252
NM_000135.3(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658
NM_000135.3(FANCA):c.375C>T (p.Cys125=) rs199793463
NM_000135.3(FANCA):c.3778_3783delCTTTTC (p.Leu1260_Phe1261del) rs1157717956
NM_000135.3(FANCA):c.3784T>C (p.Phe1262Leu) rs1555534579
NM_000135.3(FANCA):c.3795G>C (p.Leu1265Phe) rs1010989878
NM_000135.3(FANCA):c.3798G>A (p.Met1266Ile) rs1443680543
NM_000135.3(FANCA):c.3829-9G>A rs776077648
NM_000135.3(FANCA):c.3848A>G (p.Lys1283Arg)
NM_000135.3(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.3(FANCA):c.3959_3961del (p.Leu1320del) rs927201841
NM_000135.3(FANCA):c.3962G>A (p.Arg1321His) rs374649848
NM_000135.3(FANCA):c.3989_3994del (p.Leu1330_Leu1331del) rs1555533593
NM_000135.3(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657
NM_000135.3(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.3(FANCA):c.4080G>A (p.Met1360Ile) rs1555533300
NM_000135.3(FANCA):c.4167+2C>T rs374765708
NM_000135.3(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304
NM_000135.3(FANCA):c.4260+6G>C
NM_000135.3(FANCA):c.4273C>G (p.Arg1425Gly) rs587778321
NM_000135.3(FANCA):c.4273C>T (p.Arg1425Cys) rs587778321
NM_000135.3(FANCA):c.4274G>A (p.Arg1425His) rs147406377
NM_000135.3(FANCA):c.4291G>C (p.Glu1431Gln)
NM_000135.3(FANCA):c.4302C>T (p.Ala1434=) rs142784426
NM_000135.3(FANCA):c.4316G>C (p.Arg1439Thr) rs587778322
NM_000135.3(FANCA):c.4318C>T (p.Gln1440Ter) rs767234774
NM_000135.3(FANCA):c.4325C>G (p.Ala1442Gly)
NM_000135.3(FANCA):c.4331_4332del (p.Pro1444Argfs) rs1030509993
NM_000135.3(FANCA):c.4332T>G (p.Pro1444=) rs149531696
NM_000135.3(FANCA):c.445T>G (p.Leu149Val) rs372814783
NM_000135.3(FANCA):c.457C>G (p.Gln153Glu) rs774448881
NM_000135.3(FANCA):c.527C>T (p.Ser176Phe) rs35566151
NM_000135.3(FANCA):c.553C>A (p.Leu185Ile) rs587778323
NM_000135.3(FANCA):c.660G>C (p.Gln220His) rs1555571174
NM_000135.3(FANCA):c.679C>G (p.His227Asp) rs142580507
NM_000135.3(FANCA):c.691G>A (p.Ala231Thr) rs746814384
NM_000135.3(FANCA):c.742C>A (p.Gln248Lys)
NM_000135.3(FANCA):c.754_755delGAinsAG (p.Asp252Ser) rs587778324
NM_000135.3(FANCA):c.769G>A (p.Val257Met) rs777311234
NM_000135.3(FANCA):c.793-3C>G rs749688050
NM_000135.3(FANCA):c.7G>T (p.Asp3Tyr)
NM_000135.3(FANCA):c.813G>C (p.Gln271His) rs773057753
NM_000135.3(FANCA):c.835G>T (p.Asp279Tyr) rs1555566625
NM_000135.3(FANCA):c.838G>A (p.Ala280Thr) rs1010833101
NM_000135.3(FANCA):c.839C>T (p.Ala280Val) rs767092317
NM_000135.3(FANCA):c.874C>G (p.His292Asp) rs200220791
NM_000135.3(FANCA):c.881T>C (p.Ile294Thr) rs1555566545
NM_000135.3(FANCA):c.953G>T (p.Arg318Met) rs72552377
NM_000135.3(FANCA):c.95G>C (p.Arg32Thr) rs770984577
NM_000135.3(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.3(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.3141dup (p.Leu1048Profs)
NM_000136.2(FANCC):c.*1045C>T rs537983135
NM_000136.2(FANCC):c.*1262T>C rs45520432
NM_000136.2(FANCC):c.*1276C>A rs1057515698
NM_000136.2(FANCC):c.*1332A>G rs191983554
NM_000136.2(FANCC):c.*1339C>T rs144155068
NM_000136.2(FANCC):c.*1359C>G rs1009336483
NM_000136.2(FANCC):c.*143A>G rs189154697
NM_000136.2(FANCC):c.*1483T>C rs552548603
NM_000136.2(FANCC):c.*1495T>G rs41281198
NM_000136.2(FANCC):c.*1516A>G rs541816451
NM_000136.2(FANCC):c.*1727T>C rs4647557
NM_000136.2(FANCC):c.*1879C>T rs192262179
NM_000136.2(FANCC):c.*1895T>C rs56161090
NM_000136.2(FANCC):c.*1895T>G rs56161090
NM_000136.2(FANCC):c.*1968G>A rs114827984
NM_000136.2(FANCC):c.*2052G>C rs539833295
NM_000136.2(FANCC):c.*2128C>T rs567507884
NM_000136.2(FANCC):c.*2271G>A rs562841213
NM_000136.2(FANCC):c.*2296G>A rs561975553
NM_000136.2(FANCC):c.*2305G>A rs562465438
NM_000136.2(FANCC):c.*249C>T rs1046795121
NM_000136.2(FANCC):c.*2528A>G rs1057515696
NM_000136.2(FANCC):c.*254G>A rs773331481
NM_000136.2(FANCC):c.*338C>A rs920400068
NM_000136.2(FANCC):c.*450G>A rs149227790
NM_000136.2(FANCC):c.*516T>G rs1004604171
NM_000136.2(FANCC):c.*576C>T rs1057515701
NM_000136.2(FANCC):c.*593C>G rs561885351
NM_000136.2(FANCC):c.*667C>T rs150462386
NM_000136.2(FANCC):c.*825C>A rs1057515700
NM_000136.2(FANCC):c.*884C>T rs1038927110
NM_000136.2(FANCC):c.*97dupG rs1057515705
NM_000136.2(FANCC):c.*983C>T rs56059656
NM_000136.2(FANCC):c.-155A>C rs549658720
NM_000136.2(FANCC):c.-172G>T rs1057515706
NM_000136.2(FANCC):c.-225C>T rs182633348
NM_000136.2(FANCC):c.-246A>G rs1000528763
NM_000136.2(FANCC):c.-2A>G rs773045474
NM_000136.2(FANCC):c.1000C>T (p.Arg334Trp) rs140348260
NM_000136.2(FANCC):c.1001G>A (p.Arg334Gln) rs377468919
NM_000136.2(FANCC):c.1009C>T (p.Leu337Phe) rs587779899
NM_000136.2(FANCC):c.1019A>G (p.Tyr340Cys) rs746828156
NM_000136.2(FANCC):c.1024C>G (p.Pro342Ala) rs863224606
NM_000136.2(FANCC):c.1030A>G (p.Thr344Ala) rs1228873579
NM_000136.2(FANCC):c.1048A>G (p.Met350Val) rs863224607
NM_000136.2(FANCC):c.1067C>A (p.Pro356His) rs1060502517
NM_000136.2(FANCC):c.1069C>G (p.Gln357Glu)
NM_000136.2(FANCC):c.1073-4G>A rs147695697
NM_000136.2(FANCC):c.1073-5C>T rs375613884
NM_000136.2(FANCC):c.1081C>T (p.Arg361Trp) rs768508859
NM_000136.2(FANCC):c.1082G>A (p.Arg361Gln) rs761336987
NM_000136.2(FANCC):c.1093C>T (p.Leu365Phe) rs1060502514
NM_000136.2(FANCC):c.1098G>C (p.Gln366His)
NM_000136.2(FANCC):c.109C>G (p.His37Asp) rs864622230
NM_000136.2(FANCC):c.110A>C (p.His37Pro)
NM_000136.2(FANCC):c.112G>C (p.Val38Leu) rs778951584
NM_000136.2(FANCC):c.1146G>C (p.Gln382His) rs770809637
NM_000136.2(FANCC):c.1154+2dup rs1386979449
NM_000136.2(FANCC):c.1162G>A (p.Gly388Arg) rs371897078
NM_000136.2(FANCC):c.1170C>G (p.Pro390=) rs878853668
NM_000136.2(FANCC):c.1201G>A (p.Gly401Arg) rs730881722
NM_000136.2(FANCC):c.1207T>C (p.Trp403Arg) rs1554829543
NM_000136.2(FANCC):c.1244C>T (p.Ala415Val) rs550462055
NM_000136.2(FANCC):c.1249G>A (p.Glu417Lys) rs140687953
NM_000136.2(FANCC):c.1256C>G (p.Pro419Arg) rs864622514
NM_000136.2(FANCC):c.1262C>G (p.Ala421Gly) rs863224608
NM_000136.2(FANCC):c.1264C>A (p.Leu422Met) rs756716463
NM_000136.2(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.2(FANCC):c.127G>A (p.Glu43Lys) rs374836770
NM_000136.2(FANCC):c.1297C>T (p.Arg433Cys) rs369684405
NM_000136.2(FANCC):c.1298G>A (p.Arg433His)
NM_000136.2(FANCC):c.1300G>A (p.Asp434Asn) rs864622522
NM_000136.2(FANCC):c.1329+134delC rs1554829392
NM_000136.2(FANCC):c.1329+157C>T rs1554829380
NM_000136.2(FANCC):c.1329+166_1329+168delGGT rs1554829374
NM_000136.2(FANCC):c.1329+169C>T rs1554829373
NM_000136.2(FANCC):c.1329+265T>G rs1554829329
NM_000136.2(FANCC):c.1329+5delG rs878853670
NM_000136.2(FANCC):c.1330-8T>C rs864622221
NM_000136.2(FANCC):c.1330G>A (p.Val444Ile) rs1554828492
NM_000136.2(FANCC):c.1361T>C (p.Leu454Pro) rs1554828451
NM_000136.2(FANCC):c.1363G>T (p.Ala455Ser) rs730881724
NM_000136.2(FANCC):c.1366A>G (p.Met456Val) rs1554828443
NM_000136.2(FANCC):c.1368G>T (p.Met456Ile) rs863224609
NM_000136.2(FANCC):c.1374A>C (p.Arg458Ser) rs56394801
NM_000136.2(FANCC):c.143T>C (p.Met48Thr)
NM_000136.2(FANCC):c.1464G>C (p.Arg488Ser)
NM_000136.2(FANCC):c.1493C>T (p.Ala498Val) rs730881725
NM_000136.2(FANCC):c.1495C>T (p.Pro499Ser)
NM_000136.2(FANCC):c.1513G>A (p.Ala505Thr) rs780179187
NM_000136.2(FANCC):c.1518G>C (p.Trp506Cys) rs1554828332
NM_000136.2(FANCC):c.1532T>C (p.Leu511Pro) rs1554828313
NM_000136.2(FANCC):c.1534-5T>G rs730881727
NM_000136.2(FANCC):c.1544C>G (p.Thr515Ser) rs201379302
NM_000136.2(FANCC):c.1561G>A (p.Glu521Lys) rs752855423
NM_000136.2(FANCC):c.1568T>C (p.Ile523Thr) rs1554827151
NM_000136.2(FANCC):c.156G>C (p.Leu52Phe) rs1060502518
NM_000136.2(FANCC):c.1575T>G (p.Phe525Leu) rs587779901
NM_000136.2(FANCC):c.1589T>C (p.Leu530Ser) rs766809608
NM_000136.2(FANCC):c.1595G>A (p.Arg532Lys) rs55939573
NM_000136.2(FANCC):c.1603C>T (p.Arg535Cys) rs185822330
NM_000136.2(FANCC):c.1604G>A (p.Arg535His) rs587779902
NM_000136.2(FANCC):c.1607T>C (p.Leu536Pro) rs587779903
NM_000136.2(FANCC):c.160G>A (p.Glu54Lys)
NM_000136.2(FANCC):c.1622C>T (p.Pro541Leu) rs1554827120
NM_000136.2(FANCC):c.1627_1628delTCinsAA (p.Ser543Lys) rs864622417
NM_000136.2(FANCC):c.1634A>G (p.Lys545Arg) rs571668582
NM_000136.2(FANCC):c.1643G>A (p.Arg548Gln) rs730881729
NM_000136.2(FANCC):c.164T>C (p.Met55Thr) rs1060502513
NM_000136.2(FANCC):c.1669C>G (p.Gln557Glu) rs863224610
NM_000136.2(FANCC):c.1670_1674dup (p.Ter559Lysfs) rs1554827101
NM_000136.2(FANCC):c.1672G>T (p.Val558Phe)
NM_000136.2(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.2(FANCC):c.191T>G (p.Phe64Cys) rs375921240
NM_000136.2(FANCC):c.202G>A (p.Gly68Ser)
NM_000136.2(FANCC):c.202G>C (p.Gly68Arg) rs777111154
NM_000136.2(FANCC):c.214G>A (p.Ala72Thr) rs567465885
NM_000136.2(FANCC):c.233C>A (p.Pro78His) rs138722298
NM_000136.2(FANCC):c.246A>G (p.Ala82=) rs1554857810
NM_000136.2(FANCC):c.248A>G (p.Tyr83Cys) rs140992397
NM_000136.2(FANCC):c.262A>C (p.Lys88Gln) rs1060502519
NM_000136.2(FANCC):c.271A>G (p.Ile91Val) rs771619614
NM_000136.2(FANCC):c.28T>G (p.Cys10Gly) rs147479204
NM_000136.2(FANCC):c.29G>A (p.Cys10Tyr) rs143152201
NM_000136.2(FANCC):c.328C>G (p.Leu110Val) rs1554856102
NM_000136.2(FANCC):c.329T>C (p.Leu110Pro) rs777731560
NM_000136.2(FANCC):c.345+6A>T rs368595927
NM_000136.2(FANCC):c.345G>A (p.Gln115=) rs1031713372
NM_000136.2(FANCC):c.34T>G (p.Tyr12Asp) rs766173332
NM_000136.2(FANCC):c.34_36delTAT (p.Tyr12del) rs1554858333
NM_000136.2(FANCC):c.38A>G (p.Gln13Arg) rs199968672
NM_000136.2(FANCC):c.395C>G (p.Ala132Gly) rs587779905
NM_000136.2(FANCC):c.397C>T (p.Leu133Phe) rs587779906
NM_000136.2(FANCC):c.3G>A (p.Met1Ile)
NM_000136.2(FANCC):c.413T>G (p.Leu138Arg)
NM_000136.2(FANCC):c.424C>G (p.Pro142Ala) rs864622581
NM_000136.2(FANCC):c.433T>C (p.Tyr145His) rs751054264
NM_000136.2(FANCC):c.436_438delTAT (p.Tyr146del) rs761347179
NM_000136.2(FANCC):c.437A>C (p.Tyr146Ser)
NM_000136.2(FANCC):c.440C>T (p.Pro147Leu) rs730881711
NM_000136.2(FANCC):c.457-10delT
NM_000136.2(FANCC):c.457-7T>C rs749994612
NM_000136.2(FANCC):c.46A>G (p.Met16Val)
NM_000136.2(FANCC):c.46A>T (p.Met16Leu) rs1390412870
NM_000136.2(FANCC):c.472G>C (p.Ala158Pro) rs372338418
NM_000136.2(FANCC):c.491A>T (p.Asn164Ile) rs950623649
NM_000136.2(FANCC):c.509A>G (p.Asn170Ser) rs749322338
NM_000136.2(FANCC):c.511A>G (p.Thr171Ala) rs1554842592
NM_000136.2(FANCC):c.521G>A (p.Arg174Gln) rs755283850
NM_000136.2(FANCC):c.522-4A>G rs371422485
NM_000136.2(FANCC):c.523A>G (p.Met175Val) rs876661083
NM_000136.2(FANCC):c.532G>A (p.Glu178Lys) rs554302947
NM_000136.2(FANCC):c.536G>A (p.Arg179Gln) rs538875706
NM_000136.2(FANCC):c.542C>T (p.Ala181Val) rs182879858
NM_000136.2(FANCC):c.549G>T (p.Leu183=) rs863224611
NM_000136.2(FANCC):c.554G>A (p.Arg185Gln) rs370346767
NM_000136.2(FANCC):c.558_563del6 (p.Cys187_Val188del) rs1554838595
NM_000136.2(FANCC):c.560G>A (p.Cys187Tyr)
NM_000136.2(FANCC):c.565C>G (p.Pro189Ala) rs377620735
NM_000136.2(FANCC):c.572T>C (p.Ile191Thr)
NM_000136.2(FANCC):c.584A>G (p.Asp195Gly) rs1800365
NM_000136.2(FANCC):c.591C>G (p.Asp197Glu) rs1457631500
NM_000136.2(FANCC):c.603G>T (p.Glu201Asp) rs1060502516
NM_000136.2(FANCC):c.607C>T (p.Leu203Phe) rs878853672
NM_000136.2(FANCC):c.620A>T (p.His207Leu) rs202038890
NM_000136.2(FANCC):c.625C>T (p.Arg209Cys) rs373270404
NM_000136.2(FANCC):c.626G>A (p.Arg209His) rs587778327
NM_000136.2(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.2(FANCC):c.652G>C (p.Glu218Gln) rs752339229
NM_000136.2(FANCC):c.668T>C (p.Val223Ala) rs751410815
NM_000136.2(FANCC):c.673G>A (p.Glu225Lys) rs374176091
NM_000136.2(FANCC):c.679A>G (p.Ile227Val) rs864622550
NM_000136.2(FANCC):c.687G>A (p.Leu229=) rs864622527
NM_000136.2(FANCC):c.692_694delAGA (p.Lys231del) rs3831244
NM_000136.2(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.2(FANCC):c.733C>T (p.Arg245Trp) rs571548182
NM_000136.2(FANCC):c.748C>A (p.Leu250Ile) rs778966663
NM_000136.2(FANCC):c.760A>G (p.Met254Val) rs757294568
NM_000136.2(FANCC):c.767A>G (p.His256Arg) rs730881716
NM_000136.2(FANCC):c.770T>C (p.Leu257Pro) rs1060502515
NM_000136.2(FANCC):c.790A>G (p.Ser264Gly) rs111657009
NM_000136.2(FANCC):c.792T>G (p.Ser264Arg) rs730881717
NM_000136.2(FANCC):c.800A>G (p.Asn267Ser) rs200854639
NM_000136.2(FANCC):c.802T>A (p.Cys268Ser) rs730881718
NM_000136.2(FANCC):c.80C>T (p.Thr27Ile)
NM_000136.2(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_000136.2(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.2(FANCC):c.823T>C (p.Phe275Leu) rs745621828
NM_000136.2(FANCC):c.826A>G (p.Ile276Val) rs377085045
NM_000136.2(FANCC):c.835T>A (p.Ser279Thr) rs757190154
NM_000136.2(FANCC):c.839C>T (p.Ser280Leu) rs749230615
NM_000136.2(FANCC):c.843+5G>A rs369082921
NM_000136.2(FANCC):c.844-10_844-8delCCT rs758617953
NM_000136.2(FANCC):c.847C>A (p.Gln283Lys)
NM_000136.2(FANCC):c.871T>C (p.Phe291Leu)
NM_000136.2(FANCC):c.875G>A (p.Arg292Gln) rs747060782
NM_000136.2(FANCC):c.891G>T (p.Met297Ile) rs1554833192
NM_000136.2(FANCC):c.896+6C>T rs199525333
NM_000136.2(FANCC):c.897-8T>C rs878853673
NM_000136.2(FANCC):c.8A>C (p.Gln3Pro) rs1415268424
NM_000136.2(FANCC):c.916G>A (p.Asp306Asn) rs772992002
NM_000136.2(FANCC):c.918T>G (p.Asp306Glu)
NM_000136.2(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000136.2(FANCC):c.941_943dup (p.Thr314_Ile315insThr) rs1554832862
NM_000136.2(FANCC):c.974C>T (p.Ala325Val) rs367618818
NM_000136.2(FANCC):c.990C>A (p.Ser330Arg) rs374915316
NM_000136.2(FANCC):c.990C>G (p.Ser330Arg) rs374915316
NM_000136.2(FANCC):c.992A>G (p.Lys331Arg) rs756408779
NM_000136.2(FANCC):c.997-3C>T rs878853674
NM_000136.2(FANCC):c.998T>C (p.Leu333Pro) rs864622191
NM_000136.2(FANCC):c.9A>T (p.Gln3His) rs769585639
NM_000137.2(FAH):c.107T>C (p.Ile36Thr) rs774648934
NM_000137.2(FAH):c.1156G>C (p.Asp386His) rs1555442402
NM_000137.2(FAH):c.1159G>A (p.Gly387Arg) rs753539920
NM_000137.2(FAH):c.1195G>C (p.Asp399His) rs1449927772
NM_000137.2(FAH):c.298_300delACC (p.Thr100del) rs1555440545
NM_000137.2(FAH):c.398A>T (p.His133Leu) rs775152764
NM_000137.2(FAH):c.607-6T>G rs80338896
NM_000137.2(FAH):c.696C>T (p.Asn232=) rs533540262
NM_000137.2(FAH):c.700T>G (p.Trp234Gly) rs1555441595
NM_000137.2(FAH):c.707-7_707-5delTCT rs779284513
NM_000137.2(FAH):c.742G>A (p.Gly248Arg)
NM_000137.2(FAH):c.787G>A (p.Val263Met) rs1168279912
NM_000137.2(FAH):c.81+2T>A rs772895065
NM_000137.2(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000140.3(FECH):c.*2446_*2450delGTTTT rs886053981
NM_000140.4(FECH):c.*1071C>G rs886053992
NM_000140.4(FECH):c.*1170T>A rs886053991
NM_000140.4(FECH):c.*1170_*1176delTAAATGGinsAAATCTTCTATGTTTGTATTACTCTCTGGTAA rs886053988
NM_000140.4(FECH):c.*1173A>T rs868017208
NM_000140.4(FECH):c.*1175G>A rs886053990
NM_000140.4(FECH):c.*1176G>A rs886053989
NM_000140.4(FECH):c.*1287T>A rs113654252
NM_000140.4(FECH):c.*1287_*1288insTTTA rs59569925
NM_000140.4(FECH):c.*1348T>G rs886053987
NM_000140.4(FECH):c.*136G>C rs886053995
NM_000140.4(FECH):c.*1453T>C rs886053986
NM_000140.4(FECH):c.*1950A>G rs886053985
NM_000140.4(FECH):c.*1966G>T rs779669357
NM_000140.4(FECH):c.*2060C>T rs886053984
NM_000140.4(FECH):c.*2079C>T rs886053983
NM_000140.4(FECH):c.*2441G>T rs886053982
NM_000140.4(FECH):c.*2446G>T rs4940895
NM_000140.4(FECH):c.*2450_*2451insG rs886053980
NM_000140.4(FECH):c.*2451_*2452insG rs1555678907
NM_000140.4(FECH):c.*2459_*2461dup rs529946604
NM_000140.4(FECH):c.*2513G>A rs886053978
NM_000140.4(FECH):c.*2599C>T rs886053977
NM_000140.4(FECH):c.*2600G>A rs886053976
NM_000140.4(FECH):c.*2782G>T rs886053975
NM_000140.4(FECH):c.*3656C>T rs886053974
NM_000140.4(FECH):c.*3719C>T rs886053973
NM_000140.4(FECH):c.*3753_*3754insT rs886053972
NM_000140.4(FECH):c.*3788A>G rs886053971
NM_000140.4(FECH):c.*394C>G rs781751487
NM_000140.4(FECH):c.*3976C>T rs886053970
NM_000140.4(FECH):c.*4077C>T rs548648988
NM_000140.4(FECH):c.*4237A>G rs886053969
NM_000140.4(FECH):c.*4336A>G rs769571284
NM_000140.4(FECH):c.*4337G>A rs747976113
NM_000140.4(FECH):c.*4363G>A rs375097125
NM_000140.4(FECH):c.*443A>C rs886053994
NM_000140.4(FECH):c.*4449A>G rs886053968
NM_000140.4(FECH):c.*4528C>T rs564734119
NM_000140.4(FECH):c.*4598T>G rs886053967
NM_000140.4(FECH):c.*4720T>C rs760022638
NM_000140.4(FECH):c.*5090G>A rs776370345
NM_000140.4(FECH):c.*5170T>C rs886053966
NM_000140.4(FECH):c.*5247T>C rs375220859
NM_000140.4(FECH):c.*5349C>T rs189146107
NM_000140.4(FECH):c.*55C>T rs886053997
NM_000140.4(FECH):c.*60T>C rs886053996
NM_000140.4(FECH):c.*825T>C rs886053993
NM_000140.4(FECH):c.139A>G (p.Thr47Ala) rs144831860
NM_000140.4(FECH):c.185C>G (p.Pro62Arg)
NM_000140.4(FECH):c.202A>G (p.Lys68Glu) rs756377185
NM_000140.4(FECH):c.598+12T>A rs370521491
NM_000140.4(FECH):c.819C>T (p.Gly273=) rs138840143
NM_000140.4(FECH):c.912+14A>G rs886053999
NM_000140.4(FECH):c.935G>T (p.Gly312Val) rs886053998
NM_000142.4(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330
NM_000142.4(FGFR3):c.200G>A (p.Gly67Asp) rs369232922
NM_000142.4(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438
NM_000142.4(FGFR3):c.739G>A (p.Glu247Lys) rs565612580
NM_000143.3(FH):c.*92G>T rs202167168
NM_000143.3(FH):c.-48G>T rs886046320
NM_000143.3(FH):c.1022A>G (p.Asp341Gly) rs1060499640
NM_000143.3(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.3(FH):c.1237-12A>T rs74405673
NM_000143.3(FH):c.1237-14_1237-13delTC rs144131869
NM_000143.3(FH):c.1237-14_1237-13dupTC rs144131869
NM_000143.3(FH):c.1237-16_1237-13delTCTC rs144131869
NM_000143.3(FH):c.1237-16_1237-13dupTCTC rs144131869
NM_000143.3(FH):c.1237-18_1237-13dupTCTCTC rs144131869
NM_000143.3(FH):c.1237-20_1237-13dupTCTCTCTC rs144131869
NM_000143.3(FH):c.1237-22_1237-13dupTCTCTCTCTC rs144131869
NM_000143.3(FH):c.1237-24_1237-13dupTCTCTCTCTCTC rs144131869
NM_000143.3(FH):c.1237-5_1237-4insTCTC rs886046316
NM_000143.3(FH):c.1237-9_1237-8insTCTCTC rs1553340717
NM_000143.3(FH):c.12A>G (p.Ala4=) rs201277370
NM_000143.3(FH):c.132+5G>T rs1060499627
NM_000143.3(FH):c.1424C>A (p.Ala475Glu) rs863224012
NM_000143.3(FH):c.1443C>G (p.Thr481=) rs780200136
NM_000143.3(FH):c.1506dupA (p.Pro503Thrfs) rs886041202
NM_000143.3(FH):c.190A>G (p.Asn64Asp) rs886046319
NM_000143.3(FH):c.1A>C (p.Met1Leu) rs776806414
NM_000143.3(FH):c.251T>C (p.Val84Ala) rs878853692
NM_000143.3(FH):c.305C>T (p.Ala102Val) rs61753295
NM_000143.3(FH):c.33G>C (p.Ser11=) rs200542051
NM_000143.3(FH):c.382G>A (p.Ala128Thr) rs1553341620
NM_000143.3(FH):c.395T>C (p.Leu132Ser) rs1060499632
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000143.3(FH):c.560C>T (p.Ser187Leu) rs398123166
NM_000143.3(FH):c.580G>A (p.Ala194Thr) rs587782215
NM_000143.3(FH):c.7C>G (p.Arg3Gly) rs202166344
NM_000143.3(FH):c.823G>C (p.Gly275Arg) rs1060499639
NM_000143.3(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.3(FH):c.905-5T>A rs886046318
NM_000143.3(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000151.3(G6PC):c.*1039G>T rs549474805
NM_000151.3(G6PC):c.*119C>T rs886052957
NM_000151.3(G6PC):c.*120G>A rs150477898
NM_000151.3(G6PC):c.*1210C>G rs144568330
NM_000151.3(G6PC):c.*1313A>G rs886052962
NM_000151.3(G6PC):c.*1324C>T rs548787621
NM_000151.3(G6PC):c.*1454C>T rs148453821
NM_000151.3(G6PC):c.*1513C>T rs374021788
NM_000151.3(G6PC):c.*1552A>T rs138968865
NM_000151.3(G6PC):c.*1652C>T rs765883953
NM_000151.3(G6PC):c.*1970A>G rs192778595
NM_000151.3(G6PC):c.*1981C>T rs573802724
NM_000151.3(G6PC):c.*1986T>C rs542411157
NM_000151.3(G6PC):c.*211T>C rs886052958
NM_000151.3(G6PC):c.*2133C>T rs183542930
NM_000151.3(G6PC):c.*2134G>A rs886052963
NM_000151.3(G6PC):c.*2311C>T rs372226654
NM_000151.3(G6PC):c.*24A>C rs377739870
NM_000151.3(G6PC):c.*2501C>G rs886052964
NM_000151.3(G6PC):c.*2519G>T rs886052965
NM_000151.3(G6PC):c.*2532G>A rs76156285
NM_000151.3(G6PC):c.*2611C>T rs186556135
NM_000151.3(G6PC):c.*2687delT rs113390675
NM_000151.3(G6PC):c.*2800G>A rs886052967
NM_000151.3(G6PC):c.*2847T>C rs139115520
NM_000151.3(G6PC):c.*286A>G rs886052959
NM_000151.3(G6PC):c.*2981G>T rs886052968
NM_000151.3(G6PC):c.*492A>C rs532485841
NM_000151.3(G6PC):c.*556C>T rs533491939
NM_000151.3(G6PC):c.*607G>A rs886052960
NM_000151.3(G6PC):c.*703G>A rs375295552
NM_000151.3(G6PC):c.*714A>G rs886052961
NM_000151.3(G6PC):c.*745G>T rs116897758
NM_000151.3(G6PC):c.*986A>T rs370935410
NM_000151.3(G6PC):c.-45G>A rs367816430
NM_000151.3(G6PC):c.1018_1027delGTCATCCCCTinsA (p.Val340_Tyr343delinsAsn) rs1555560204
NM_000151.3(G6PC):c.1067C>A (p.Ser356Ter) rs1555560217
NM_000151.3(G6PC):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.3(G6PC):c.326G>A (p.Cys109Tyr) rs886052955
NM_000151.3(G6PC):c.340+10C>A rs368450665
NM_000151.3(G6PC):c.341G>A (p.Gly114Glu) rs544563908
NM_000151.3(G6PC):c.361A>G (p.Met121Val) rs1555559733
NM_000151.3(G6PC):c.47C>G (p.Thr16Arg) rs1555558914
NM_000151.3(G6PC):c.497T>C (p.Val166Ala) rs104894571
NM_000151.3(G6PC):c.577G>C (p.Glu193Gln) rs886052956
NM_000151.3(G6PC):c.634A>T (p.Ile212Phe) rs756944737
NM_000151.3(G6PC):c.638C>T (p.Thr213Ile) rs201649392
NM_000151.3(G6PC):c.646C>T (p.Leu216=) rs749665480
NM_000151.3(G6PC):c.674T>C (p.Leu225Pro) rs1555560128
NM_000151.3(G6PC):c.784_786delCTC (p.Leu262del) rs1305819623
NM_000151.3(G6PC):c.792C>A (p.Asn264Lys) rs1555560149
NM_000151.3(G6PC):c.81G>C (p.Gln27His) rs371611000
NM_000151.3(G6PC):c.922G>A (p.Val308Ile) rs774448424
NM_000151.3(G6PC):c.943C>G (p.Pro315Ala) rs143321486
NM_000151.3(G6PC):c.964T>G (p.Phe322Val)
NM_000151.3(G6PC):c.965T>A (p.Phe322Tyr) rs863224022
NM_000151.3(G6PC):c.993G>C (p.Ala331=) rs369238258
NM_000154.1(GALK1):c.*32C>T rs116845474
NM_000154.1(GALK1):c.*620G>A rs1443010160
NM_000154.1(GALK1):c.*85C>T rs542735255
NM_000154.1(GALK1):c.-33_-20dup rs1555748974
NM_000154.1(GALK1):c.-44C>T rs758902207
NM_000154.1(GALK1):c.1012dup (p.Val338Glyfs) rs1555747776
NM_000154.1(GALK1):c.1024C>T (p.Arg342Cys) rs769167240
NM_000154.1(GALK1):c.1044C>T (p.Phe348=) rs372653001
NM_000154.1(GALK1):c.1045G>A (p.Gly349Ser) rs754967473
NM_000154.1(GALK1):c.1096C>T (p.Arg366Trp) rs536478616
NM_000154.1(GALK1):c.116A>G (p.Asn39Ser) rs536209426
NM_000154.1(GALK1):c.130C>T (p.His44Tyr) rs1555748926
NM_000154.1(GALK1):c.165+6G>A rs779996721
NM_000154.1(GALK1):c.202C>T (p.Arg68Cys) rs1365349586
NM_000154.1(GALK1):c.409G>C (p.Gly137Arg) rs1555748630
NM_000154.1(GALK1):c.479C>T (p.Ser160Leu) rs575077063
NM_000154.1(GALK1):c.514_516delCAG (p.Gln172del) rs1555748595
NM_000154.1(GALK1):c.520G>A (p.Glu174Lys) rs1363497653
NM_000154.1(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.1(GALK1):c.703G>A (p.Glu235Lys) rs764167059
NM_000154.1(GALK1):c.716G>A (p.Arg239Gln) rs575139300
NM_000154.1(GALK1):c.746C>T (p.Ala249Val) rs149825190
NM_000154.1(GALK1):c.786G>A (p.Glu262=) rs756263074
NM_000154.1(GALK1):c.787C>T (p.Leu263=) rs886053420
NM_000154.1(GALK1):c.821G>A (p.Gly274Asp) rs959842362
NM_000154.1(GALK1):c.830G>A (p.Arg277Gln) rs370029131
NM_000154.1(GALK1):c.840C>T (p.His280=) rs375779311
NM_000154.1(GALK1):c.841G>A (p.Val281Met) rs753571180
NM_000154.1(GALK1):c.856C>T (p.Arg286Trp) rs370987432
NM_000154.1(GALK1):c.863C>T (p.Thr288Met) rs759284637
NM_000154.1(GALK1):c.919_921delATG (p.Met307del) rs1247635972
NM_000154.1(GALK1):c.94G>A (p.Val32Met) rs104894576
NM_000154.1(GALK1):c.995C>T (p.Ala332Val) rs886053419
NM_000155.3(GALT):c.*147A>G rs73501024
NM_000155.3(GALT):c.-130_-129insCAGT rs111033640
NM_000155.3(GALT):c.-38G>A rs886063883
NM_000155.3(GALT):c.-96T>G rs1554709099
NM_000155.3(GALT):c.1006A>T (p.Met336Leu) rs111033810
NM_000155.3(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.3(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.3(GALT):c.1059+24G>A rs111033840
NM_000155.3(GALT):c.1087G>A (p.Glu363Lys) rs367543273
NM_000155.3(GALT):c.152G>A (p.Arg51Gln) rs111033648
NM_000155.3(GALT):c.157T>A (p.Trp53Arg) rs1131691837
NM_000155.3(GALT):c.157T>C (p.Trp53Arg) rs1131691837
NM_000155.3(GALT):c.197C>T (p.Pro66Leu) rs111033656
NM_000155.3(GALT):c.200G>A (p.Arg67His) rs758430398
NM_000155.3(GALT):c.203A>G (p.His68Arg) rs193922247
NM_000155.3(GALT):c.247G>A (p.Gly83Arg) rs111033660
NM_000155.3(GALT):c.27G>C (p.Gln9His) rs111033637
NM_000155.3(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.3(GALT):c.309G>A (p.Gln103=) rs367543253
NM_000155.3(GALT):c.32G>A (p.Arg11His)
NM_000155.3(GALT):c.336T>G (p.Ser112Arg) rs367543254
NM_000155.3(GALT):c.346C>A (p.Leu116Ile) rs1554709252
NM_000155.3(GALT):c.367C>G (p.Arg123Gly) rs111033674
NM_000155.3(GALT):c.389G>A (p.Cys130Tyr) rs367543255
NM_000155.3(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.3(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.3(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.3(GALT):c.496C>G (p.Pro166Ala) rs367543257
NM_000155.3(GALT):c.507+10G>A rs753052473
NM_000155.3(GALT):c.508-29delT rs111033711
NM_000155.3(GALT):c.510C>A (p.Ile170=) rs61735984
NM_000155.3(GALT):c.527C>T (p.Ala176Val) rs1554709329
NM_000155.3(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.3(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.3(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.3(GALT):c.572C>A (p.Ala191Asp) rs794727838
NM_000155.3(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.3(GALT):c.590A>G (p.Asp197Gly) rs1554709359
NM_000155.3(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.3(GALT):c.611G>A (p.Arg204Gln) rs111033740
NM_000155.3(GALT):c.630G>A (p.Lys210=) rs367543260
NM_000155.3(GALT):c.652C>G (p.Leu218Val) rs2070075
NM_000155.3(GALT):c.667C>T (p.Arg223Cys) rs111033750
NM_000155.3(GALT):c.676C>G (p.Leu226Val) rs111033751
NM_000155.3(GALT):c.687+9G>C rs117998880
NM_000155.3(GALT):c.687G>A (p.Lys229=) rs111033753
NM_000155.3(GALT):c.688-4C>T rs374014228
NM_000155.3(GALT):c.752A>G (p.Tyr251Cys) rs111033755
NM_000155.3(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.3(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.3(GALT):c.788G>A (p.Arg263Gln) rs777023967
NM_000155.3(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.3(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.3(GALT):c.827C>G (p.Ala276Gly)
NM_000155.3(GALT):c.82G>A (p.Asp28Asn) rs111033636
NM_000155.3(GALT):c.843G>A (p.Lys281=) rs368298966
NM_000155.3(GALT):c.857A>G (p.Tyr286Cys) rs367543262
NM_000155.3(GALT):c.883C>A (p.Pro295Thr) rs111033783
NM_000155.3(GALT):c.887A>G (p.Tyr296Cys) rs775789069
NM_000155.3(GALT):c.904+2T>G rs886063885
NM_000155.3(GALT):c.957C>T (p.His319=) rs111033792
NM_000155.3(GALT):c.961C>T (p.His321Tyr) rs367543266
NM_000155.3(GALT):c.970C>T (p.Pro324Ser) rs111033798
NM_000155.3(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000163.4(GHR):c.497G>A (p.Gly166Glu) rs761856079
NM_000163.4(GHR):c.535C>T (p.Arg179Cys) rs121909362
NM_000163.4(GHR):c.686G>A (p.Arg229His) rs6177
NM_000168.5(GLI3):c.*1007G>A rs886062327
NM_000168.5(GLI3):c.*1027C>T rs886062326
NM_000168.5(GLI3):c.*1239T>A rs886062325
NM_000168.5(GLI3):c.*1263C>T rs886062324
NM_000168.5(GLI3):c.*1366C>T rs886062323
NM_000168.5(GLI3):c.*1386A>G rs886062322
NM_000168.5(GLI3):c.*1411G>A rs148318176
NM_000168.5(GLI3):c.*1471C>T rs886062321
NM_000168.5(GLI3):c.*165A>G rs886062333
NM_000168.5(GLI3):c.*1688C>G rs886062320
NM_000168.5(GLI3):c.*1780C>T rs886062319
NM_000168.5(GLI3):c.*1858C>T rs886062318
NM_000168.5(GLI3):c.*2146_*2150delGACCT rs774204684
NM_000168.5(GLI3):c.*2216T>C rs886062317
NM_000168.5(GLI3):c.*2257A>T rs886062316
NM_000168.5(GLI3):c.*2358delT rs144064690
NM_000168.5(GLI3):c.*2419T>C rs886062315
NM_000168.5(GLI3):c.*2465G>C rs886062314
NM_000168.5(GLI3):c.*248delT rs5883809
NM_000168.5(GLI3):c.*248dupT rs5883809
NM_000168.5(GLI3):c.*2508G>C rs886062313
NM_000168.5(GLI3):c.*265A>C rs201493390
NM_000168.5(GLI3):c.*2666G>A rs117987369
NM_000168.5(GLI3):c.*266_*267insA rs1554304160
NM_000168.5(GLI3):c.*2676C>T rs886062312
NM_000168.5(GLI3):c.*3094T>C rs886062311
NM_000168.5(GLI3):c.*3369C>A rs886062310
NM_000168.5(GLI3):c.*512C>T rs886062330
NM_000168.5(GLI3):c.*589T>C rs886062329
NM_000168.5(GLI3):c.*66G>T rs886062334
NM_000168.5(GLI3):c.*911A>G rs187664615
NM_000168.5(GLI3):c.*974T>A rs886062328
NM_000168.5(GLI3):c.-3A>G rs886062340
NM_000168.5(GLI3):c.-47C>T rs886062341
NM_000168.5(GLI3):c.-78G>T rs886062342
NM_000168.5(GLI3):c.-83C>T rs886062343
NM_000168.5(GLI3):c.1177A>G (p.Ile393Val) rs1380213537
NM_000168.5(GLI3):c.1184G>A (p.Gly395Glu)
NM_000168.5(GLI3):c.1207G>A (p.Val403Ile) rs201070431
NM_000168.5(GLI3):c.1242+6delA rs772496012
NM_000168.5(GLI3):c.1462G>A (p.Ala488Thr) rs756581886
NM_000168.5(GLI3):c.1474G>A (p.Asp492Asn) rs886320788
NM_000168.5(GLI3):c.1800G>A (p.Thr600=) rs138445547
NM_000168.5(GLI3):c.1845T>C (p.Thr615=) rs373687877
NM_000168.5(GLI3):c.1958C>T (p.Pro653Leu) rs141220299
NM_000168.5(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000168.5(GLI3):c.2412C>G (p.Val804=) rs761829250
NM_000168.5(GLI3):c.241G>A (p.Glu81Lys) rs376725882
NM_000168.5(GLI3):c.2493C>A (p.Ser831Arg) rs752838669
NM_000168.5(GLI3):c.272A>G (p.His91Arg)
NM_000168.5(GLI3):c.2960A>G (p.Tyr987Cys) rs777313061
NM_000168.5(GLI3):c.3079C>T (p.Leu1027Phe) rs746534141
NM_000168.5(GLI3):c.3115G>A (p.Ala1039Thr) rs770430876
NM_000168.5(GLI3):c.3118G>A (p.Glu1040Lys) rs772839719
NM_000168.5(GLI3):c.3122A>G (p.Lys1041Arg)
NM_000168.5(GLI3):c.3149C>T (p.Thr1050Met) rs146556791
NM_000168.5(GLI3):c.3284A>G (p.Asp1095Gly) rs1554304659
NM_000168.5(GLI3):c.3509C>G (p.Ala1170Gly)
NM_000168.5(GLI3):c.353T>C (p.Met118Thr) rs886062339
NM_000168.5(GLI3):c.3631G>A (p.Gly1211Arg) rs757059523
NM_000168.5(GLI3):c.367C>T (p.His123Tyr) rs199909375
NM_000168.5(GLI3):c.3790G>A (p.Ala1264Thr)
NM_000168.5(GLI3):c.3823G>A (p.Gly1275Arg) rs756156901
NM_000168.5(GLI3):c.411T>C (p.Ile137=) rs200203051
NM_000168.5(GLI3):c.4296G>A (p.Leu1432=) rs768735366
NM_000168.5(GLI3):c.4356G>A (p.Gln1452=) rs377535957
NM_000168.5(GLI3):c.4564G>T (p.Ala1522Ser) rs758379697
NM_000168.5(GLI3):c.4590C>T (p.Asn1530=) rs886062335
NM_000168.5(GLI3):c.641C>T (p.Ser214Phe) rs886062338
NM_000168.5(GLI3):c.659G>A (p.Arg220His)
NM_000168.5(GLI3):c.681G>A (p.Ala227=) rs752998397
NM_000168.5(GLI3):c.748C>T (p.Pro250Ser) rs202039538
NM_000168.5(GLI3):c.827-6T>C rs886062337
NM_000168.5(GLI3):c.847A>T (p.Arg283Trp) rs746870989
NM_000168.5(GLI3):c.961C>T (p.Leu321Phe) rs769956877
NM_000168.5(GLI3):c.99C>T (p.Ala33=) rs201109218
NM_000169.2(GLA):c.1007A>C (p.Asn336Thr)
NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.2(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.2(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.2(GLA):c.1175G>C (p.Arg392Thr) rs782756052
NM_000169.2(GLA):c.1184G>C (p.Gly395Ala) rs375661583
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.1256A>T (p.Asn419Ile) rs1060500749
NM_000169.2(GLA):c.212A>G (p.Glu71Gly) rs781927744
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.247G>A (p.Asp83Asn) rs782722577
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.361G>A (p.Ala121Thr) rs782197638
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.457G>A (p.Asp153Asn) rs370299397
NM_000169.2(GLA):c.461T>C (p.Ile154Thr) rs869312143
NM_000169.2(GLA):c.48T>G (p.Leu16=) rs201449986
NM_000169.2(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.2(GLA):c.525C>G (p.Asp175Glu)
NM_000169.2(GLA):c.588A>C (p.Arg196Ser) rs869312147
NM_000169.2(GLA):c.590G>A (p.Ser197Asn) rs201679091
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.640-4A>C rs1060500748
NM_000169.2(GLA):c.683A>G (p.Asn228Ser) rs869312152
NM_000169.2(GLA):c.692A>C (p.Asp231Ala)
NM_000169.2(GLA):c.727T>A (p.Leu243Met) rs782453201
NM_000169.2(GLA):c.7C>G (p.Leu3Val) rs869312133
NM_000169.2(GLA):c.828C>A (p.Ser276Arg) rs1555985010
NM_000169.2(GLA):c.831G>C (p.Trp277Cys) rs782196174
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.868A>C (p.Met290Leu) rs375538532
NM_000169.2(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.2(GLA):c.914C>T (p.Pro305Leu)
NM_000169.2(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.2(GLA):c.937G>A (p.Asp313Asn) rs28935490
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.943G>A (p.Asp315Asn) rs869312156
NM_000169.2(GLA):c.947T>C (p.Val316Ala) rs869312157
NM_000169.2(GLA):c.968C>G (p.Pro323Arg) rs869312159
NM_000169.2(GLA):c.989A>G (p.Gln330Arg) rs869312161
NM_000169.2(GLA):c.991C>T (p.Leu331Phe) rs730880437
NM_000179.2(MSH6):c.942C>G (p.Ser314Arg) rs150440246
NM_000186.3(CFH):c.*14G>A rs463726
NM_000186.3(CFH):c.-175T>C rs762143457
NM_000186.3(CFH):c.-61A>G rs886045741
NM_000186.3(CFH):c.103G>A (p.Gly35Ser) rs886045742
NM_000186.3(CFH):c.1336+4A>G
NM_000186.3(CFH):c.2215A>G (p.Thr739Ala) rs886045745
NM_000186.3(CFH):c.2461C>T (p.His821Tyr)
NM_000186.3(CFH):c.2542G>A (p.Gly848Arg) rs886045746
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.285T>C (p.Thr95=) rs148182625
NM_000186.3(CFH):c.3004G>C (p.Gly1002Arg) rs201816520
NM_000186.3(CFH):c.3134-7T>C rs779166622
NM_000186.3(CFH):c.3310+12T>C rs757045842
NM_000186.3(CFH):c.428-3C>T rs886045744
NM_000186.3(CFH):c.481G>T (p.Ala161Ser)
NM_000186.3(CFH):c.59-10T>G
NM_000190.3(HMBS):c.737G>A (p.Arg246His) rs201909197
NM_000190.4(HMBS):c.*101G>A rs565181447
NM_000190.4(HMBS):c.*194A>G rs886047756
NM_000190.4(HMBS):c.*94T>C rs886047755
NM_000190.4(HMBS):c.1020C>T (p.Asn340=) rs146585331
NM_000190.4(HMBS):c.1026G>A (p.Leu342=) rs199845143
NM_000190.4(HMBS):c.105G>C (p.Thr35=) rs370081222
NM_000190.4(HMBS):c.135G>A (p.Ser45=) rs146801283
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621
NM_000190.4(HMBS):c.345-9C>T rs772934410
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.615C>G (p.Ile205Met) rs774594843
NM_000190.4(HMBS):c.674G>A (p.Arg225Gln) rs142459647
NM_000190.4(HMBS):c.815A>C (p.Lys272Thr) rs1057519252
NM_000194.2(HPRT1):c.485G>T (p.Ser162Ile) rs886042455
NM_000194.2(HPRT1):c.536T>C (p.Val179Ala)
NM_000196.3(HSD11B2):c.272A>C (p.Asp91Ala) rs1356598056
NM_000196.3(HSD11B2):c.343_348del (p.Glu115_Leu116del) rs794726669
NM_000196.3(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780
NM_000196.4(HSD11B2):c.220_222delCGCinsGG (p.Arg74Glyfs)
NM_000196.4(HSD11B2):c.956_964dup (p.Val321_Val322insAlaProVal)
NM_000198.3(HSD3B2):c.*121C>A rs886045198
NM_000198.3(HSD3B2):c.*177C>T rs886045199
NM_000198.3(HSD3B2):c.*397T>A rs753468192
NM_000198.3(HSD3B2):c.*46C>T rs371081728
NM_000198.3(HSD3B2):c.-145G>A rs35226381
NM_000198.3(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.3(HSD3B2):c.1084C>T (p.Arg362Trp) rs199919404
NM_000198.3(HSD3B2):c.13T>A (p.Cys5Ser) rs376207606
NM_000198.3(HSD3B2):c.222C>T (p.Asp74=) rs150892928
NM_000198.3(HSD3B2):c.308-8G>A rs371712928
NM_000198.3(HSD3B2):c.333T>G (p.Cys111Trp) rs886045196
NM_000198.3(HSD3B2):c.423C>T (p.His141=) rs751470493
NM_000198.3(HSD3B2):c.501G>A (p.Ala167=) rs6207
NM_000198.3(HSD3B2):c.510G>C (p.Gly170=) rs886045197
NM_000198.3(HSD3B2):c.621C>T (p.Asn207=) rs143758913
NM_000198.3(HSD3B2):c.625G>A (p.Gly209Arg) rs587669956
NM_000198.3(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327
NM_000198.3(HSD3B2):c.750T>C (p.Gly250=) rs755461071
NM_000198.3(HSD3B2):c.789C>G (p.Ser263Arg) rs771688849
NM_000204.4(CFI):c.-98T>C rs886058984
NM_000204.4(CFI):c.1112G>T (p.Gly371Val) rs763931500
NM_000204.4(CFI):c.129C>T (p.Cys43=) rs146462954
NM_000204.4(CFI):c.1381T>C (p.Phe461Leu) rs886058983
NM_000204.4(CFI):c.1429+5A>G rs771786368
NM_000204.4(CFI):c.1429G>C (p.Asp477His) rs754972981
NM_000204.4(CFI):c.1516A>C (p.Lys506Gln) rs886058982
NM_000204.4(CFI):c.1532C>T (p.Ala511Val)
NM_000204.4(CFI):c.1709G>C (p.Ser570Thr) rs200973120
NM_000204.4(CFI):c.205A>G (p.Lys69Glu)
NM_000204.4(CFI):c.209A>C (p.Asn70Thr)
NM_000204.4(CFI):c.309C>T (p.Asn103=) rs761425840
NM_000204.4(CFI):c.405T>C (p.Asp135=) rs375792874
NM_000204.4(CFI):c.540A>G (p.Glu180=) rs759777516
NM_000214.2(JAG1):c.*1093_*1097delTATCA rs886056509
NM_000214.2(JAG1):c.*1133_*1136delACTT rs886056508
NM_000214.2(JAG1):c.*1212_*1214delACT rs886056507
NM_000214.2(JAG1):c.*1533_*1534delTG rs765273169
NM_000214.2(JAG1):c.*647_*649delAAT rs572952606
NM_000214.2(JAG1):c.*967_*970delGTTT rs748163677
NM_000214.2(JAG1):c.1344C>T (p.Asp448=) rs754081766
NM_000214.2(JAG1):c.388-11_388-8delTTGT rs750004416
NM_000214.3(JAG1):c.*1224G>A rs886056506
NM_000214.3(JAG1):c.*1637A>G rs886056505
NM_000214.3(JAG1):c.*21C>T rs554327524
NM_000214.3(JAG1):c.*253C>T rs780887274
NM_000214.3(JAG1):c.*297C>T rs575525743
NM_000214.3(JAG1):c.*378T>G rs886056512
NM_000214.3(JAG1):c.*398T>C rs562655817
NM_000214.3(JAG1):c.*401C>T rs886056511
NM_000214.3(JAG1):c.*641C>A rs866626696
NM_000214.3(JAG1):c.*6C>T rs376881523
NM_000214.3(JAG1):c.*914G>A rs111277443
NM_000214.3(JAG1):c.*970T>C rs886056510
NM_000214.3(JAG1):c.-105C>G rs886056515
NM_000214.3(JAG1):c.-129C>T rs886056516
NM_000214.3(JAG1):c.-27C>G rs886056513
NM_000214.3(JAG1):c.-364T>G rs886056517
NM_000214.3(JAG1):c.-375dup rs201660680
NM_000214.3(JAG1):c.-384T>G rs559044448
NM_000214.3(JAG1):c.-386dup rs886056519
NM_000214.3(JAG1):c.-482G>A rs886056520
NM_000214.3(JAG1):c.-483C>T rs867504722
NM_000214.3(JAG1):c.-507G>A rs747888489
NM_000214.3(JAG1):c.-73G>C rs886056514
NM_000214.3(JAG1):c.101A>C (p.Gln34Pro) rs1555830973
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp)
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046
NM_000214.3(JAG1):c.1720+3A>G rs1555828541
NM_000214.3(JAG1):c.1721-15A>G rs753524030
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.1914T>G (p.Cys638Trp)
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035
NM_000214.3(JAG1):c.2077T>C (p.Cys693Arg)
NM_000214.3(JAG1):c.2113+5G>A rs886044704
NM_000214.3(JAG1):c.2199C>T (p.Gly733=) rs756062969
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu)
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val) rs142742183
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694
NM_000214.3(JAG1):c.2728G>A (p.Glu910Lys) rs368734792
NM_000214.3(JAG1):c.2801G>A (p.Gly934Asp)
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) rs760332763
NM_000214.3(JAG1):c.282C>T (p.Phe94=) rs772592163
NM_000214.3(JAG1):c.3064C>T (p.Arg1022Trp) rs1057516205
NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln) rs139629694
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=) rs748849177
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907
NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr) rs769242977
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) rs142017684
NM_000214.3(JAG1):c.355C>T (p.Arg119Cys) rs1555830925
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666
NM_000214.3(JAG1):c.521C>T (p.Thr174Met) rs144999773
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000214.3(JAG1):c.700T>A (p.Cys234Ser) rs1555829415
NM_000214.3(JAG1):c.71T>C (p.Leu24Pro) rs1135401949
NM_000214.3(JAG1):c.722A>G (p.Lys241Arg) rs1405610551
NM_000214.3(JAG1):c.756-14C>T rs757351921
NM_000214.3(JAG1):c.851G>T (p.Cys284Phe) rs1555829067
NM_000214.3(JAG1):c.870C>T (p.Gly290=)
NM_000214.3(JAG1):c.878G>A (p.Cys293Tyr)
NM_000214.3(JAG1):c.886+5G>A rs1173329664
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344
NM_000218.2(KCNQ1):c.1128+5G>A rs76735093
NM_000218.2(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381
NM_000218.2(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963
NM_000218.2(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787
NM_000218.2(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820
NM_000218.2(KCNQ1):c.1885G>A (p.Gly629Ser) rs775608046
NM_000218.2(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.2(KCNQ1):c.514G>A (p.Val172Met) rs199472694
NM_000218.2(KCNQ1):c.644T>G (p.Val215Gly) rs368011737
NM_000220.4(KCNJ1):c.212C>T (p.Thr71Met)
NM_000220.4(KCNJ1):c.562C>T (p.Arg188Cys) rs138120505
NM_000220.4(KCNJ1):c.634C>T (p.Arg212Ter) rs201707868
NM_000220.4(KCNJ1):c.683G>A (p.Gly228Glu)
NM_000229.1(LCAT):c.*12T>C rs886052219
NM_000229.1(LCAT):c.1039C>T (p.Arg347Cys) rs202017590
NM_000229.1(LCAT):c.159C>T (p.Pro53=) rs556480808
NM_000229.1(LCAT):c.534G>T (p.Glu178Asp) rs886052220
NM_000229.1(LCAT):c.748+13C>G rs750086555
NM_000229.1(LCAT):c.981A>C (p.Gly327=) rs139453193
NM_000239.2(LYZ):c.*221C>T rs886049804
NM_000239.2(LYZ):c.*280_*289dupTTTTTTTTTT rs71094709
NM_000239.2(LYZ):c.*289_*290insTTTTTTTTTTTTT rs71094709
NM_000239.2(LYZ):c.*330C>T rs886049805
NM_000239.2(LYZ):c.*331G>A rs762377090
NM_000239.2(LYZ):c.*440T>A rs886049806
NM_000239.2(LYZ):c.*442T>G rs886049807
NM_000239.2(LYZ):c.*470C>T rs554855169
NM_000239.2(LYZ):c.*565G>T rs886049808
NM_000239.2(LYZ):c.*814C>A rs886049810
NM_000239.2(LYZ):c.269G>A (p.Gly90Glu) rs141911537
NM_000239.2:c.86delC
NM_000243.2(MEFV):c.*1029G>C rs142648477
NM_000243.2(MEFV):c.*1080A>G rs568129540
NM_000243.2(MEFV):c.*169C>T rs558576646
NM_000243.2(MEFV):c.*19C>T rs761376734
NM_000243.2(MEFV):c.*280G>C rs562541179
NM_000243.2(MEFV):c.*292C>G rs560496227
NM_000243.2(MEFV):c.*403A>C rs766365739
NM_000243.2(MEFV):c.*467_*469delTTG rs746257932
NM_000243.2(MEFV):c.*543C>T rs886051970
NM_000243.2(MEFV):c.*639G>A rs181380218
NM_000243.2(MEFV):c.*679C>G rs886051969
NM_000243.2(MEFV):c.*701G>A rs368896227
NM_000243.2(MEFV):c.*724G>A rs886051968
NM_000243.2(MEFV):c.*74C>T rs11466050
NM_000243.2(MEFV):c.*761delC rs886051967
NM_000243.2(MEFV):c.*779delT rs60407399
NM_000243.2(MEFV):c.*818A>C rs886051965
NM_000243.2(MEFV):c.-15C>G rs11466015
NM_000243.2(MEFV):c.1016C>T (p.Ser339Phe) rs104895157
NM_000243.2(MEFV):c.1043G>A (p.Arg348His) rs104895198
NM_000243.2(MEFV):c.1061G>A (p.Arg354Gln) rs763015849
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1117C>T (p.Pro373Ser)
NM_000243.2(MEFV):c.1129C>T (p.Arg377Cys) rs896909303
NM_000243.2(MEFV):c.1131C>T (p.Arg377=)
NM_000243.2(MEFV):c.1173T>C (p.Asp391=) rs146077729
NM_000243.2(MEFV):c.1222C>T (p.Arg408Trp) rs758868622
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.1223G>T (p.Arg408Leu) rs11466024
NM_000243.2(MEFV):c.1260+10C>T rs104895137
NM_000243.2(MEFV):c.1261-11T>G rs77086855
NM_000243.2(MEFV):c.1337A>C (p.Glu446Ala) rs749651486
NM_000243.2(MEFV):c.1370C>T (p.Ala457Val) rs104895151
NM_000243.2(MEFV):c.1406T>C (p.Val469Ala) rs778686119
NM_000243.2(MEFV):c.1455G>A (p.Glu485=)
NM_000243.2(MEFV):c.1504G>A (p.Val502Ile) rs140462252
NM_000243.2(MEFV):c.1508C>G (p.Ser503Cys) rs190705322
NM_000243.2(MEFV):c.1513G>T (p.Asp505Tyr) rs150730718
NM_000243.2(MEFV):c.1522C>T (p.Leu508=) rs199937453
NM_000243.2(MEFV):c.1527C>T (p.Leu509=) rs571832030
NM_000243.2(MEFV):c.1587+5G>A rs1555458661
NM_000243.2(MEFV):c.1587+5G>T rs1555458661
NM_000243.2(MEFV):c.1736G>A (p.Arg579His) rs574055513
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1803T>A (p.Ile601=) rs779572391
NM_000243.2(MEFV):c.1898C>T (p.Pro633Leu) rs976279218
NM_000243.2(MEFV):c.2024G>A (p.Ser675Asn) rs104895087
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2160C>G (p.Ile720Met) rs104895102
NM_000243.2(MEFV):c.2330_2331delGT (p.Gly777Alafs) rs753946287
NM_000243.2(MEFV):c.277G>C (p.Glu93Gln) rs138498376
NM_000243.2(MEFV):c.289C>A (p.Gln97Lys) rs747515115
NM_000243.2(MEFV):c.289C>T (p.Gln97Ter) rs747515115
NM_000243.2(MEFV):c.297C>T (p.Asn99=) rs104895175
NM_000243.2(MEFV):c.311C>G (p.Ser104Cys)
NM_000243.2(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.2(MEFV):c.329T>C (p.Leu110Pro) rs11466018
NM_000243.2(MEFV):c.340A>G (p.Lys114Glu)
NM_000243.2(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.2(MEFV):c.372C>T (p.Pro124=) rs104895078
NM_000243.2(MEFV):c.407G>A (p.Gly136Glu) rs876660989
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.443A>T (p.Glu148Val) rs104895076
NM_000243.2(MEFV):c.460T>C (p.Ser154Pro) rs756975501
NM_000243.2(MEFV):c.539C>T (p.Pro180Leu) rs104895134
NM_000243.2(MEFV):c.553G>A (p.Gly185Arg)
NM_000243.2(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.2(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.2(MEFV):c.611G>A (p.Arg204His) rs775663363
NM_000243.2(MEFV):c.651G>C (p.Ala217=) rs886051971
NM_000243.2(MEFV):c.66G>A (p.Glu22=) rs569040282
NM_000243.2(MEFV):c.688G>A (p.Glu230Lys) rs104895080
NM_000243.2(MEFV):c.766A>G (p.Asn256Asp)
NM_000243.2(MEFV):c.800C>T (p.Thr267Ile) rs104895081
NM_000243.2(MEFV):c.803C>T (p.Ala268Val) rs104895123
NM_000243.2(MEFV):c.848C>G (p.Pro283Arg) rs104895119
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.941G>A (p.Arg314His) rs104895204
NM_000243.2(MEFV):c.97G>T (p.Val33Leu) rs11466016
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_000244.3(MEN1):c.108_122dup (p.Leu41_Gly42insLeuSerLeuValLeu) rs1555166695
NM_000244.3(MEN1):c.1406_1411dup (p.Ala470_Glu471insAlaAla) rs1555163821
NM_000244.3(MEN1):c.526C>T (p.Arg176Trp) rs143329068
NM_000244.3(MEN1):c.578C>T (p.Pro193Leu) rs199706698
NM_000244.3(MEN1):c.659_667delTGGCTGAGCinsGCCCCT (p.Val220_Arg223delinsGlyProTrp) rs386134257
NM_000244.3(MEN1):c.669+18C>T rs180737290
NM_000244.3(MEN1):c.791_796dup (p.Gln265_Gln266insLeuGln) rs1555165485
NM_000245.3(MET):c.1019A>G (p.Asp340Gly) rs200690492
NM_000245.3(MET):c.110T>C (p.Val37Ala) rs201315884
NM_000245.3(MET):c.1180C>A (p.His394Asn) rs201628326
NM_000245.3(MET):c.1810C>G (p.Leu604Val) rs201861645
NM_000245.3(MET):c.2383A>G (p.Asn795Asp) rs200633053
NM_000245.3(MET):c.3356G>C (p.Gly1119Ala) rs201037977
NM_000245.3(MET):c.4151C>G (p.Ala1384Gly) rs202166889
NM_000245.3(MET):c.967A>G (p.Ser323Gly) rs201467281
NM_000249.3(MLH1):c.2087C>T (p.Thr696Ile) rs868502951
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.2(MSH2):c.2321T>C (p.Ile774Thr) rs878853811
NM_000254.2(MTR):c.1067T>C (p.Leu356Ser) rs1286773616
NM_000254.2(MTR):c.1575A>T (p.Lys525Asn) rs199700767
NM_000254.2(MTR):c.1862A>G (p.Asp621Gly)
NM_000254.2(MTR):c.1954-6A>G rs1553321372
NM_000254.2(MTR):c.2165T>C (p.Leu722Pro) rs1553321807
NM_000254.2(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.2(MTR):c.899C>T (p.Thr300Met)
NM_000255.3(MMUT):c.-35G>T rs483352795
NM_000255.3(MMUT):c.1115T>C (p.Ile372Thr) rs150968643
NM_000255.3(MMUT):c.1156C>A (p.His386Asn) rs1554159937
NM_000255.3(MMUT):c.1208G>A (p.Arg403Gln) rs774457503
NM_000255.3(MMUT):c.1219A>T (p.Asn407Tyr) rs576536579
NM_000255.3(MMUT):c.1324G>C (p.Ala442Pro)
NM_000255.3(MMUT):c.1332+3A>C rs367641890
NM_000255.3(MMUT):c.1417G>T (p.Ala473Ser) rs188766510
NM_000255.3(MMUT):c.1669C>T (p.Arg557Trp) rs886061559
NM_000255.3(MMUT):c.1679G>A (p.Cys560Tyr) rs1238333040
NM_000255.3(MMUT):c.1790T>G (p.Ile597Arg) rs1554158951
NM_000255.3(MMUT):c.1844C>G (p.Pro615Arg) rs1554158777
NM_000255.3(MMUT):c.1850T>G (p.Leu617Arg) rs1554158775
NM_000255.3(MMUT):c.1865T>C (p.Met622Thr)
NM_000255.3(MMUT):c.191C>T (p.Pro64Leu) rs575038087
NM_000255.3(MMUT):c.1956+2T>C rs750619189
NM_000255.3(MMUT):c.1991C>T (p.Ala664Val) rs137958217
NM_000255.3(MMUT):c.2020C>T (p.Leu674Phe)
NM_000255.3(MMUT):c.2197G>A (p.Val733Ile) rs1183369398
NM_000255.3(MMUT):c.2206C>T (p.Leu736Phe) rs753461919
NM_000255.3(MMUT):c.260G>A (p.Gly87Glu) rs1554160986
NM_000255.3(MMUT):c.277C>T (p.Arg93Cys) rs746274670
NM_000255.3(MMUT):c.284C>T (p.Pro95Leu) rs190834116
NM_000255.3(MMUT):c.38C>T (p.Pro13Leu) rs1057518979
NM_000255.3(MMUT):c.41A>T (p.His14Leu) rs886061561
NM_000255.3(MMUT):c.421G>A (p.Ala141Thr) rs1554160730
NM_000255.3(MMUT):c.556A>G (p.Met186Val) rs148331800
NM_000255.3(MMUT):c.647C>A (p.Thr216Asn) rs1554160650
NM_000255.3(MMUT):c.656A>G (p.Asn219Ser)
NM_000255.3(MMUT):c.669_674dup (p.Glu224_Phe225insLeuGlu) rs1554160637
NM_000255.3(MMUT):c.836A>G (p.Tyr279Cys) rs2228282
NM_000255.3(MMUT):c.915_920del (p.Leu305_Ser306del)
NM_000255.3(MMUT):c.917C>T (p.Ser306Phe) rs1085307929
NM_000255.4(MMUT):c.2125-2A>G
NM_000264.4(PTCH1):c.2270T>C (p.Phe757Ser) rs547954117
NM_000267.3(NF1):c.*1202A>C rs886052807
NM_000267.3(NF1):c.*1425C>T rs886052808
NM_000267.3(NF1):c.*1446T>C rs886052809
NM_000267.3(NF1):c.*1899A>G rs547663480
NM_000267.3(NF1):c.*1987C>T rs886052810
NM_000267.3(NF1):c.*2071G>A rs886052811
NM_000267.3(NF1):c.*2132T>C rs551806545
NM_000267.3(NF1):c.*2566C>T rs545937364
NM_000267.3(NF1):c.*2638_*2646delGATAATCTAinsTTATG rs886052813
NM_000267.3(NF1):c.*2777C>A rs185015732
NM_000267.3(NF1):c.*2884T>A rs886052814
NM_000267.3(NF1):c.*3091A>C rs570154156
NM_000267.3(NF1):c.*3174A>C rs886052815
NM_000267.3(NF1):c.*3248G>A rs527971565
NM_000267.3(NF1):c.*3266G>A rs548117626
NM_000267.3(NF1):c.*3514G>C rs574282086
NM_000267.3(NF1):c.*506T>A rs886052804
NM_000267.3(NF1):c.*584G>T rs190144445
NM_000267.3(NF1):c.*871delA rs759306393
NM_000267.3(NF1):c.*873_*874dupAT rs369548314
NM_000267.3(NF1):c.*875T>A rs886052806
NM_000267.3(NF1):c.-115T>C rs886052793
NM_000267.3(NF1):c.-148C>A rs886052792
NM_000267.3(NF1):c.-173C>G rs886052791
NM_000267.3(NF1):c.-209C>A rs886052790
NM_000267.3(NF1):c.-229C>G rs886052789
NM_000267.3(NF1):c.-237C>T rs878967255
NM_000267.3(NF1):c.-237dupC rs886052788
NM_000267.3(NF1):c.-242dupC rs886052787
NM_000267.3(NF1):c.-248_-247dupCC rs886052786
NM_000267.3(NF1):c.-249_-247dupCCC rs886052786
NM_000267.3(NF1):c.-322G>A rs886052785
NM_000267.3(NF1):c.-383_60+?dup443
NM_000267.3(NF1):c.-73G>T rs886052795
NM_000267.3(NF1):c.-84C>T rs886052794
NM_000267.3(NF1):c.-8G>A rs864622331
NM_000267.3(NF1):c.1004A>G (p.Asn335Ser) rs758212945
NM_000267.3(NF1):c.1019C>G (p.Ser340Cys) rs771089333
NM_000267.3(NF1):c.1042T>C (p.Ser348Pro) rs864622064
NM_000267.3(NF1):c.1045A>G (p.Met349Val) rs776050648
NM_000267.3(NF1):c.1048G>A (p.Val350Met) rs1185636269
NM_000267.3(NF1):c.104G>A (p.Ser35Asn) rs1060500282
NM_000267.3(NF1):c.1052T>A (p.Val351Asp) rs878853861
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.1062+5C>T rs1555610916
NM_000267.3(NF1):c.1062+6A>G rs1060500291
NM_000267.3(NF1):c.1069C>G (p.Leu357Val)
NM_000267.3(NF1):c.1108C>T (p.Pro370Ser) rs878853862
NM_000267.3(NF1):c.1130T>C (p.Ile377Thr) rs878853863
NM_000267.3(NF1):c.1134C>G (p.Asp378Glu)
NM_000267.3(NF1):c.1135T>C (p.Cys379Arg) rs1060500281
NM_000267.3(NF1):c.1138C>T (p.Leu380Phe) rs1426127948
NM_000267.3(NF1):c.1145C>T (p.Ser382Phe) rs1555611016
NM_000267.3(NF1):c.1154G>A (p.Arg385His) rs1350329837
NM_000267.3(NF1):c.116A>T (p.Asn39Ile)
NM_000267.3(NF1):c.1185G>A (p.Lys395=)
NM_000267.3(NF1):c.1186A>C (p.Ile396Leu) rs1413735911
NM_000267.3(NF1):c.1229T>G (p.Leu410Arg)
NM_000267.3(NF1):c.1247G>A (p.Arg416Gln) rs1343309278
NM_000267.3(NF1):c.1259A>G (p.Asn420Ser) rs1555611107
NM_000267.3(NF1):c.1260+5G>C rs1060500253
NM_000267.3(NF1):c.1260+6T>C rs1555611111
NM_000267.3(NF1):c.1260+6T>G rs1555611111
NM_000267.3(NF1):c.1261-3T>A rs761761583
NM_000267.3(NF1):c.1261T>G (p.Ser421Ala) rs878853864
NM_000267.3(NF1):c.128T>C (p.Leu43Pro) rs1555604899
NM_000267.3(NF1):c.1304A>G (p.His435Arg) rs1555611571
NM_000267.3(NF1):c.1309G>T (p.Val437Phe) rs1555611574
NM_000267.3(NF1):c.1310T>C (p.Val437Ala) rs876658642
NM_000267.3(NF1):c.1319G>A (p.Arg440Gln)
NM_000267.3(NF1):c.1328T>C (p.Phe443Ser) rs1555611581
NM_000267.3(NF1):c.1331G>A (p.Gly444Asp) rs1555611582
NM_000267.3(NF1):c.1357G>A (p.Gly453Ser) rs1273060925
NM_000267.3(NF1):c.1369C>T (p.His457Tyr) rs757560526
NM_000267.3(NF1):c.1370_1372delACC (p.His457del)
NM_000267.3(NF1):c.1382G>A (p.Arg461Gln)
NM_000267.3(NF1):c.1391C>T (p.Pro464Leu)
NM_000267.3(NF1):c.1392G>T (p.Pro464=) rs201604273