ClinVar Miner

List of variants studied for adrenal gland disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1256
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HGVS dbSNP
NM_000033.3(ABCD1):c.*1035C>T rs6643782
NM_000033.4(ABCD1):c.*10C>T rs1057515814
NM_000033.4(ABCD1):c.*123C>T rs186542134
NM_000033.4(ABCD1):c.*196C>G rs367591611
NM_000033.4(ABCD1):c.*259A>G rs374092960
NM_000033.4(ABCD1):c.*412T>C rs1057515815
NM_000033.4(ABCD1):c.*473C>T rs782343473
NM_000033.4(ABCD1):c.*481G>T rs199942817
NM_000033.4(ABCD1):c.*530G>A rs67211405
NM_000033.4(ABCD1):c.*548_*554GAGAGGG[1] rs1057515816
NM_000033.4(ABCD1):c.*564G>A rs782819878
NM_000033.4(ABCD1):c.*608G>A rs73640819
NM_000033.4(ABCD1):c.*668C>T rs187420166
NM_000033.4(ABCD1):c.*795C>T rs1057515817
NM_000033.4(ABCD1):c.*870G>T rs72616452
NM_000033.4(ABCD1):c.*877C>T rs11803
NM_000033.4(ABCD1):c.*894G>A rs1055847
NM_000033.4(ABCD1):c.*8G>C rs2229539
NM_000033.4(ABCD1):c.*903G>A rs78155328
NM_000033.4(ABCD1):c.*985C>G rs782309410
NM_000033.4(ABCD1):c.-10C>T rs782754717
NM_000033.4(ABCD1):c.-202C>G rs781978041
NM_000033.4(ABCD1):c.-342G>A rs912340339
NM_000033.4(ABCD1):c.-59C>T rs4148030
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=) rs138233092
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.901-10C>T rs2269365
NM_000102.3(CYP17A1):c.-166G>C rs58519757
NM_000102.4(CYP17A1):c.*130C>T rs886046665
NM_000102.4(CYP17A1):c.*165dup rs45455494
NM_000102.4(CYP17A1):c.*65C>A rs537220295
NM_000102.4(CYP17A1):c.*67C>A rs886046666
NM_000102.4(CYP17A1):c.-14G>A rs17115125
NM_000102.4(CYP17A1):c.-15C>T rs140012815
NM_000102.4(CYP17A1):c.-30dup rs886046667
NM_000102.4(CYP17A1):c.-34T>C rs743572
NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=) rs554217514
NM_000102.4(CYP17A1):c.1363A>G (p.Ile455Val) rs138630127
NM_000102.4(CYP17A1):c.138C>T (p.His46=) rs6162
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) rs756135168
NM_000102.4(CYP17A1):c.195G>T (p.Ser65=) rs6163
NM_000102.4(CYP17A1):c.298-11G>C rs188885755
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly) rs142435666
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) rs61754263
NM_000102.4(CYP17A1):c.847G>C (p.Asp283His) rs746480412
NM_000176.3(NR3C1):c.*1176C>T rs61753504
NM_000176.3(NR3C1):c.*1628A>G rs372713535
NM_000176.3(NR3C1):c.*2042C>T rs13306586
NM_000176.3(NR3C1):c.*2056dup rs886060046
NM_000176.3(NR3C1):c.*2188A>G rs6193
NM_000176.3(NR3C1):c.*2567A>G rs886060044
NM_000176.3(NR3C1):c.*290A>C rs72542758
NM_000176.3(NR3C1):c.*3003A>G rs61753509
NM_000176.3(NR3C1):c.*3076C>T rs72542769
NM_000176.3(NR3C1):c.*3153C>T rs2301177
NM_000176.3(NR3C1):c.*3298G>T rs6191
NM_000176.3(NR3C1):c.*3300G>T rs72542770
NM_000176.3(NR3C1):c.*3550G>A rs10482714
NM_000176.3(NR3C1):c.*3833A>G rs6198
NM_000176.3(NR3C1):c.*3937A>T rs4518436
NM_000176.3(NR3C1):c.*937C>A rs72542760
NM_000176.3(NR3C1):c.1088A>G (p.Asn363Ser) rs56149945
NM_000176.3(NR3C1):c.1242A>G (p.Thr414=) rs67902340
NM_000176.3(NR3C1):c.1764C>T (p.His588=) rs6194
NM_000176.3(NR3C1):c.2034C>T (p.Asp678=) rs258751
NM_000176.3(NR3C1):c.2182-9C>G rs72542757
NM_000176.3(NR3C1):c.2250C>T (p.Pro750=) rs67300719
NM_000176.3(NR3C1):c.2298T>C (p.Asn766=) rs6196
NM_000176.3(NR3C1):c.631A>G (p.Ser211Gly) rs886060061
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_000176.3(NR3C1):c.68G>A (p.Arg23Lys) rs6190
NM_000176.3(NR3C1):c.753G>A (p.Pro251=) rs375379753
NM_000176.3(NR3C1):c.879G>A (p.Lys293=) rs10482622
NM_000176.3(NR3C1):c.897A>G (p.Thr299=) rs13306588
NM_000198.3(HSD3B2):c.-145G>A rs35226381
NM_000198.4(HSD3B2):c.*121C>A rs886045198
NM_000198.4(HSD3B2):c.*177C>T rs886045199
NM_000198.4(HSD3B2):c.*202A>G rs9282704
NM_000198.4(HSD3B2):c.*276C>T rs1819698
NM_000198.4(HSD3B2):c.*321C>G rs1361530
NM_000198.4(HSD3B2):c.*397T>A rs753468192
NM_000198.4(HSD3B2):c.*46C>T rs371081728
NM_000198.4(HSD3B2):c.*96C>G rs9282703
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp) rs199919404
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser) rs376207606
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928
NM_000198.4(HSD3B2):c.308-8G>A rs371712928
NM_000198.4(HSD3B2):c.333T>G (p.Cys111Trp) rs886045196
NM_000198.4(HSD3B2):c.423C>T (p.His141=) rs751470493
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) rs6207
NM_000198.4(HSD3B2):c.510G>C (p.Gly170=) rs886045197
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) rs143758913
NM_000198.4(HSD3B2):c.625G>A (p.Gly209Arg) rs587669956
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=) rs33926546
NM_000198.4(HSD3B2):c.789C>G (p.Ser263Arg) rs771688849
NM_000349.2(STAR):c.-249C>A rs886062906
NM_000349.2(STAR):c.-255G>T rs567801443
NM_000349.3(STAR):c.*1122T>A rs72556520
NM_000349.3(STAR):c.*116T>G rs35462433
NM_000349.3(STAR):c.*1384del rs886062898
NM_000349.3(STAR):c.*1524A>G rs3990403
NM_000349.3(STAR):c.*1543C>A rs748527738
NM_000349.3(STAR):c.*230A>G rs34575008
NM_000349.3(STAR):c.*348C>T rs886062904
NM_000349.3(STAR):c.*556A>G rs886062903
NM_000349.3(STAR):c.*796A>G rs886062902
NM_000349.3(STAR):c.*817C>T rs886062901
NM_000349.3(STAR):c.*818G>A rs558498679
NM_000349.3(STAR):c.*88G>C rs112828857
NM_000349.3(STAR):c.*913C>T rs551135472
NM_000349.3(STAR):c.*93C>T rs776003335
NM_000349.3(STAR):c.*948del rs886062900
NM_000349.3(STAR):c.*965_*967dup rs11326306
NM_000349.3(STAR):c.*967del rs11326306
NM_000349.3(STAR):c.*981A>G rs188232971
NM_000349.3(STAR):c.*987A>G rs28361934
NM_000349.3(STAR):c.-70G>T rs370257148
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000349.3(STAR):c.125dup (p.Thr44fs) rs750549499
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290
NM_000349.3(STAR):c.178+9T>C rs777624416
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868
NM_000349.3(STAR):c.466-5G>A rs375678713
NM_000349.3(STAR):c.484A>C (p.Lys162Gln) rs886062905
NM_000349.3(STAR):c.504C>T (p.His168=) rs147138315
NM_000497.3(CYP11B1):c.*1020C>T rs5017238
NM_000497.3(CYP11B1):c.*1042A>G rs7003319
NM_000497.3(CYP11B1):c.*1076C>T rs61752806
NM_000497.3(CYP11B1):c.*1138delA rs148110533
NM_000497.3(CYP11B1):c.*1164G>A rs886062735
NM_000497.3(CYP11B1):c.*1209C>T rs757505651
NM_000497.3(CYP11B1):c.*1258G>A rs61752808
NM_000497.3(CYP11B1):c.*1288A>G rs61752809
NM_000497.3(CYP11B1):c.*132T>C rs5297
NM_000497.3(CYP11B1):c.*1358T>C rs886062734
NM_000497.3(CYP11B1):c.*1417G>A rs61752812
NM_000497.3(CYP11B1):c.*1435T>C rs551125657
NM_000497.3(CYP11B1):c.*1499C>T rs1134095
NM_000497.3(CYP11B1):c.*1512G>A rs61752814
NM_000497.3(CYP11B1):c.*1555del rs548944247
NM_000497.3(CYP11B1):c.*1566G>T rs1134096
NM_000497.3(CYP11B1):c.*1590G>C rs886062733
NM_000497.3(CYP11B1):c.*1622C>T rs543935807
NM_000497.3(CYP11B1):c.*1770A>T rs369448045
NM_000497.3(CYP11B1):c.*1852T>G rs4736312
NM_000497.3(CYP11B1):c.*1871T>A rs61752818
NM_000497.3(CYP11B1):c.*193A>T rs61752798
NM_000497.3(CYP11B1):c.*245C>G rs538608688
NM_000497.3(CYP11B1):c.*318A>G rs5299
NM_000497.3(CYP11B1):c.*400C>T rs61752801
NM_000497.3(CYP11B1):c.*468C>T rs114832894
NM_000497.3(CYP11B1):c.*471A>C rs12543598
NM_000497.3(CYP11B1):c.*485C>G rs886062737
NM_000497.3(CYP11B1):c.*495C>T rs886062736
NM_000497.3(CYP11B1):c.*516A>G rs5301
NM_000497.3(CYP11B1):c.*613A>G rs1137480
NM_000497.3(CYP11B1):c.*634G>A rs1137481
NM_000497.3(CYP11B1):c.*670A>C rs879537131
NM_000497.3(CYP11B1):c.*694T>C rs5303
NM_000497.3(CYP11B1):c.*718T>G rs189479208
NM_000497.3(CYP11B1):c.*737C>T rs748684062
NM_000497.3(CYP11B1):c.*738G>A rs5304
NM_000497.3(CYP11B1):c.*848C>T rs149520110
NM_000497.3(CYP11B1):c.*857T>C rs370725779
NM_000497.3(CYP11B1):c.*901G>A rs748103274
NM_000497.3(CYP11B1):c.*923G>C rs61752805
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766
NM_000497.3(CYP11B1):c.1014G>A (p.Gln338=) rs151335623
NM_000497.3(CYP11B1):c.1042G>A (p.Ala348Thr) rs6407
NM_000497.3(CYP11B1):c.104T>C (p.Val35Ala) rs201951316
NM_000497.3(CYP11B1):c.1086G>C (p.Leu362=) rs6403
NM_000497.3(CYP11B1):c.1090T>C (p.Leu364=) rs754660381
NM_000497.3(CYP11B1):c.1098T>G (p.Arg366=) rs61752769
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1144C>T (p.Leu382=) rs5293
NM_000497.3(CYP11B1):c.1157C>T (p.Ala386Val) rs4541
NM_000497.3(CYP11B1):c.1205T>C (p.Leu402Ser) rs886062738
NM_000497.3(CYP11B1):c.128G>A (p.Arg43Gln) rs4534
NM_000497.3(CYP11B1):c.1353T>C (p.Leu451=) rs5316
NM_000497.3(CYP11B1):c.1399-14G>C rs5295
NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238
NM_000497.3(CYP11B1):c.1488C>T (p.Leu496=) rs776766470
NM_000497.3(CYP11B1):c.225A>G (p.Leu75=) rs6410
NM_000497.3(CYP11B1):c.239+13C>A rs6402
NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) rs9657022
NM_000497.3(CYP11B1):c.246C>T (p.Asp82=) rs5283
NM_000497.3(CYP11B1):c.346T>G (p.Trp116Gly) rs772733691
NM_000497.3(CYP11B1):c.375C>G (p.His125Gln) rs201137503
NM_000497.3(CYP11B1):c.385G>A (p.Val129Met) rs377423817
NM_000497.3(CYP11B1):c.449C>T (p.Ser150Leu) rs142484434
NM_000497.3(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201
NM_000497.3(CYP11B1):c.595+12G>A rs6387
NM_000497.3(CYP11B1):c.606G>A (p.Leu202=) rs61751154
NM_000497.3(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645
NM_000497.3(CYP11B1):c.748C>T (p.Pro250Ser) rs753471858
NM_000497.3(CYP11B1):c.800-14C>T rs4535
NM_000497.3(CYP11B1):c.823T>C (p.Tyr275His) rs141368413
NM_000497.3(CYP11B1):c.825T>C (p.Tyr275=) rs5290
NM_000497.3(CYP11B1):c.873G>A (p.Ala291=) rs34570566
NM_000497.3(CYP11B1):c.930A>G (p.Glu310=) rs148707144
NM_000497.3(CYP11B1):c.954+9G>C rs6411
NM_000498.3(CYP11B2):c.*1047C>T rs886062739
NM_000498.3(CYP11B2):c.*1178T>C rs3802228
NM_000498.3(CYP11B2):c.*1246_*1248del rs576148290
NM_000498.3(CYP11B2):c.*204C>G rs773811282
NM_000498.3(CYP11B2):c.*239T>C rs9297975
NM_000498.3(CYP11B2):c.*292_*294dup rs3839864
NM_000498.3(CYP11B2):c.*299G>A rs528171695
NM_000498.3(CYP11B2):c.*431A>C rs886062742
NM_000498.3(CYP11B2):c.*504C>T rs201487778
NM_000498.3(CYP11B2):c.*532G>T rs3802230
NM_000498.3(CYP11B2):c.*537C>T rs72499120
NM_000498.3(CYP11B2):c.*566C>T rs375938097
NM_000498.3(CYP11B2):c.*579T>C rs559136479
NM_000498.3(CYP11B2):c.*735G>A rs28491316
NM_000498.3(CYP11B2):c.*743C>T rs886062741
NM_000498.3(CYP11B2):c.*744G>A rs28390200
NM_000498.3(CYP11B2):c.*746G>A rs570202161
NM_000498.3(CYP11B2):c.*789G>A rs61763990
NM_000498.3(CYP11B2):c.*81G>A rs3097
NM_000498.3(CYP11B2):c.*972C>G rs886062740
NM_000498.3(CYP11B2):c.-14G>C rs6440
NM_000498.3(CYP11B2):c.1006G>A (p.Val336Met) rs373369254
NM_000498.3(CYP11B2):c.1016T>A (p.Ile339Asn) rs4544
NM_000498.3(CYP11B2):c.1016T>C (p.Ile339Thr) rs4544
NM_000498.3(CYP11B2):c.1021C>T (p.Arg341Cys) rs562670189
NM_000498.3(CYP11B2):c.1039G>A (p.Ala347Thr) rs746708275
NM_000498.3(CYP11B2):c.1080C>T (p.Thr360=) rs142179598
NM_000498.3(CYP11B2):c.1098G>T (p.Arg366=) rs61757297
NM_000498.3(CYP11B2):c.1101G>A (p.Ala367=) rs371450047
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=) rs5281
NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=) rs4538
NM_000498.3(CYP11B2):c.1144T>C (p.Leu382=) rs61757295
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294
NM_000498.3(CYP11B2):c.1170G>A (p.Leu390=) rs5313
NM_000498.3(CYP11B2):c.1303G>A (p.Gly435Ser) rs4545
NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala) rs200283987
NM_000498.3(CYP11B2):c.352G>A (p.Ala118Thr) rs372556807
NM_000498.3(CYP11B2):c.395+10G>A rs193166276
NM_000498.3(CYP11B2):c.424T>C (p.Leu142=) rs199988205
NM_000498.3(CYP11B2):c.476C>T (p.Pro159Leu) rs563073392
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=) rs375242946
NM_000498.3(CYP11B2):c.504C>T (p.Phe168=) rs4546
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) rs4539
NM_000498.3(CYP11B2):c.529C>T (p.Leu177=) rs577489337
NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met) rs886062744
NM_000498.3(CYP11B2):c.595+14G>A rs5307
NM_000498.3(CYP11B2):c.595+15G>T rs886062743
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) rs113284476
NM_000498.3(CYP11B2):c.640C>G (p.His214Asp) rs551933154
NM_000498.3(CYP11B2):c.674A>G (p.His225Arg) rs144140791
NM_000498.3(CYP11B2):c.752A>G (p.Lys251Arg) rs752962897
NM_000498.3(CYP11B2):c.800-14T>C rs563246146
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser) rs4537
NM_000498.3(CYP11B2):c.844C>T (p.Arg282Cys) rs774989997
NM_000498.3(CYP11B2):c.867C>T (p.Ile289=) rs547347545
NM_000498.3(CYP11B2):c.873G>A (p.Ala291=) rs4536
NM_000498.3(CYP11B2):c.891G>A (p.Ala297=) rs4543
NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln) rs6441
NM_000498.3(CYP11B2):c.945C>T (p.Ser315=) rs759178574
NM_000498.3(CYP11B2):c.959C>T (p.Ala320Val) rs201830462
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) rs104894658
NM_000529.2(MC2R):c.437G>A (p.Arg146His) rs758709668
NM_000546.5(TP53):c.*1070C>T rs114831472
NM_000546.5(TP53):c.*1160T>G rs886053499
NM_000546.5(TP53):c.*1175A>C rs78378222
NM_000546.5(TP53):c.*205G>A rs16956880
NM_000546.5(TP53):c.*327C>T rs886053512
NM_000546.5(TP53):c.*346G>T rs886053511
NM_000546.5(TP53):c.*347T>C rs886053510
NM_000546.5(TP53):c.*382C>T rs886053509
NM_000546.5(TP53):c.*485G>A rs4968187
NM_000546.5(TP53):c.*548G>T rs886053508
NM_000546.5(TP53):c.*565G>T rs886053507
NM_000546.5(TP53):c.*569_*570delGT rs1555523911
NM_000546.5(TP53):c.*613C>A rs17879353
NM_000546.5(TP53):c.*626C>T rs886053506
NM_000546.5(TP53):c.*735C>A rs886053505
NM_000546.5(TP53):c.*747C>T rs886053504
NM_000546.5(TP53):c.*754C>T rs199729221
NM_000546.5(TP53):c.*772delT rs200757381
NM_000546.5(TP53):c.*773C>T rs200378797
NM_000546.5(TP53):c.*779delC rs886053503
NM_000546.5(TP53):c.*790G>A rs886053502
NM_000546.5(TP53):c.*806C>A rs886053501
NM_000546.5(TP53):c.*826G>A rs17884306
NM_000546.5(TP53):c.*936A>G rs55817367
NM_000546.5(TP53):c.*977G>C rs886053500
NM_000546.5(TP53):c.*99G>A rs886053513
NM_000546.5(TP53):c.-73C>A rs886053514
NM_000546.5(TP53):c.108G>A (p.Pro36=) rs1800370
NM_000546.5(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000546.5(TP53):c.639A>G (p.Arg213=) rs1800372
NM_000546.5(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000546.5(TP53):c.97-6C>T rs35117667
NM_000546.5(TP53):c.993+12T>C rs1800899
NM_000551.3(VHL):c.*1023G>A rs1681669
NM_000551.3(VHL):c.*1060C>T rs1681668
NM_000551.3(VHL):c.*1072C>T rs886057715
NM_000551.3(VHL):c.*1172C>T rs528852958
NM_000551.3(VHL):c.*1207G>A rs139557214
NM_000551.3(VHL):c.*1249G>A rs886057716
NM_000551.3(VHL):c.*1281A>G rs886057717
NM_000551.3(VHL):c.*1328C>A rs78562649
NM_000551.3(VHL):c.*1330A>G rs886057718
NM_000551.3(VHL):c.*1347C>A rs886057719
NM_000551.3(VHL):c.*1371A>G rs771759826
NM_000551.3(VHL):c.*1419A>G rs141916278
NM_000551.3(VHL):c.*1452A>T rs552760935
NM_000551.3(VHL):c.*1465C>A rs183067022
NM_000551.3(VHL):c.*1481G>A rs886057720
NM_000551.3(VHL):c.*1513A>G rs538580892
NM_000551.3(VHL):c.*1617G>T rs886057721
NM_000551.3(VHL):c.*1619T>C rs145608408
NM_000551.3(VHL):c.*1643C>A rs886057722
NM_000551.3(VHL):c.*1677C>T rs886057723
NM_000551.3(VHL):c.*1680T>C rs561087293
NM_000551.3(VHL):c.*1691A>G rs539201437
NM_000551.3(VHL):c.*1721C>G rs574191130
NM_000551.3(VHL):c.*1741G>T rs886057724
NM_000551.3(VHL):c.*1780C>G rs886057725
NM_000551.3(VHL):c.*1782T>G rs886057726
NM_000551.3(VHL):c.*1808A>G rs886057727
NM_000551.3(VHL):c.*1860A>G rs458106
NM_000551.3(VHL):c.*1867A>G rs566885734
NM_000551.3(VHL):c.*1887C>A rs886057728
NM_000551.3(VHL):c.*1922G>A rs886057729
NM_000551.3(VHL):c.*1960G>A rs9822696
NM_000551.3(VHL):c.*1973_*1979delGTAATCC rs149248243
NM_000551.3(VHL):c.*1990G>A rs113678809
NM_000551.3(VHL):c.*2034T>A rs1136249
NM_000551.3(VHL):c.*2034T>G rs1136249
NM_000551.3(VHL):c.*2090delT rs886057730
NM_000551.3(VHL):c.*2093delC rs886057731
NM_000551.3(VHL):c.*2094delT rs886057732
NM_000551.3(VHL):c.*2117delA rs757106274
NM_000551.3(VHL):c.*2118delT rs886057733
NM_000551.3(VHL):c.*2140C>T rs140614750
NM_000551.3(VHL):c.*2224A>G rs886057734
NM_000551.3(VHL):c.*2419dupA rs564788050
NM_000551.3(VHL):c.*2432T>G rs886057736
NM_000551.3(VHL):c.*2468C>T rs138237298
NM_000551.3(VHL):c.*2540_*2545delTTTTTT rs71052299
NM_000551.3(VHL):c.*2541_*2546delTTTTTG rs886057738
NM_000551.3(VHL):c.*2543_*2546delTTTG rs886057739
NM_000551.3(VHL):c.*2545delT rs71052299
NM_000551.3(VHL):c.*2548G>A rs187719061
NM_000551.3(VHL):c.*2548_*2549delGA rs886057740
NM_000551.3(VHL):c.*2562C>T rs747406421
NM_000551.3(VHL):c.*2571A>G rs886057741
NM_000551.3(VHL):c.*2594C>A rs191582744
NM_000551.3(VHL):c.*2600T>A rs142728549
NM_000551.3(VHL):c.*2647C>A rs886057742
NM_000551.3(VHL):c.*2660T>A rs886057743
NM_000551.3(VHL):c.*266_*269delTCAG rs886057704
NM_000551.3(VHL):c.*2670G>C rs886057744
NM_000551.3(VHL):c.*2715C>T rs578053681
NM_000551.3(VHL):c.*2716G>A rs538719970
NM_000551.3(VHL):c.*2738G>A rs886057745
NM_000551.3(VHL):c.*2762T>C rs886057746
NM_000551.3(VHL):c.*2782C>G rs886057747
NM_000551.3(VHL):c.*280A>G rs886057705
NM_000551.3(VHL):c.*2812A>C rs886057748
NM_000551.3(VHL):c.*2854G>T rs546347626
NM_000551.3(VHL):c.*294G>A rs1642742
NM_000551.3(VHL):c.*2960C>A rs886057749
NM_000551.3(VHL):c.*2975G>C rs801913
NM_000551.3(VHL):c.*2988G>A rs886057750
NM_000551.3(VHL):c.*3021T>C rs138933035
NM_000551.3(VHL):c.*303A>T rs573000980
NM_000551.3(VHL):c.*3128G>A rs886057751
NM_000551.3(VHL):c.*3205C>T rs561918442
NM_000551.3(VHL):c.*3222A>G rs886057752
NM_000551.3(VHL):c.*3249C>T rs886057753
NM_000551.3(VHL):c.*3261T>C rs886057754
NM_000551.3(VHL):c.*3330_*3336dupACAAAAA rs886057755
NM_000551.3(VHL):c.*3352G>A rs112130915
NM_000551.3(VHL):c.*3389G>A rs368247150
NM_000551.3(VHL):c.*3395C>T rs184144719
NM_000551.3(VHL):c.*3470G>T rs886057756
NM_000551.3(VHL):c.*3482dupA rs148013887
NM_000551.3(VHL):c.*3492_*3493dupAA rs112494627
NM_000551.3(VHL):c.*349G>T rs886057706
NM_000551.3(VHL):c.*3506G>T rs886057759
NM_000551.3(VHL):c.*3523T>G rs17610448
NM_000551.3(VHL):c.*3545C>A rs886057760
NM_000551.3(VHL):c.*3603C>T rs145137834
NM_000551.3(VHL):c.*3616C>T rs750516726
NM_000551.3(VHL):c.*3625T>A rs552161251
NM_000551.3(VHL):c.*3644_*3645insG rs201632485
NM_000551.3(VHL):c.*3645_*3646insGT rs1553620861
NM_000551.3(VHL):c.*385delT rs886057707
NM_000551.3(VHL):c.*392G>A rs886057708
NM_000551.3(VHL):c.*448G>T rs886057709
NM_000551.3(VHL):c.*523delG rs546118793
NM_000551.3(VHL):c.*574T>C rs143062510
NM_000551.3(VHL):c.*597G>A rs886057711
NM_000551.3(VHL):c.*635G>A rs886057712
NM_000551.3(VHL):c.*687C>A rs886057713
NM_000551.3(VHL):c.*724T>G rs13090104
NM_000551.3(VHL):c.*816G>C rs142396182
NM_000551.3(VHL):c.*820A>G rs182781943
NM_000551.3(VHL):c.*823G>A rs7629500
NM_000551.3(VHL):c.*938_*942dupGTTTT rs544983652
NM_000551.3(VHL):c.*989C>T rs186084634
NM_000551.3(VHL):c.-125C>A rs886057700
NM_000551.3(VHL):c.-166C>T rs886057699
NM_000551.3(VHL):c.-195G>A rs779805
NM_000551.3(VHL):c.-207C>T rs886057698
NM_000551.3(VHL):c.-30C>T rs886057701
NM_000551.3(VHL):c.-64C>T rs772944298
NM_000551.3(VHL):c.-77C>T rs3087462
NM_000551.3(VHL):c.10A>T (p.Arg4Trp) rs886057702
NM_000551.3(VHL):c.11G>T (p.Arg4Met) rs886057703
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.5C>T (p.Pro2Leu) rs111246617
NM_000551.3(VHL):c.631A>C (p.Met211Leu) rs200019083
NM_000551.3(VHL):c.639T>C (p.Asp213=) rs775624944
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000781.3(CYP11A1):c.-35A>G rs886051481
NM_000781.3(CYP11A1):c.-59A>G rs567971184
NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu) rs764270391
NM_000781.3(CYP11A1):c.1164C>T (p.His388=) rs537187397
NM_000781.3(CYP11A1):c.1201G>A (p.Asp401Asn) rs886051479
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263
NM_000781.3(CYP11A1):c.269+4A>G rs199573967
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=) rs530494910
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) rs1567053134
NM_000781.3(CYP11A1):c.567G>A (p.Ala189=) rs770022852
NM_000781.3(CYP11A1):c.589G>C (p.Asp197His) rs886051480
NM_000781.3(CYP11A1):c.830-14C>G rs190239248
NM_000781.3(CYP11A1):c.86G>A (p.Arg29His) rs150725205
NM_000781.3(CYP11A1):c.939C>T (p.Phe313=) rs4986873
NM_000781.3(CYP11A1):c.93G>A (p.Arg31=) rs141127674
NM_000890.5(KCNJ5):c.*1024A>G rs886048018
NM_000890.5(KCNJ5):c.*103G>C rs886048012
NM_000890.5(KCNJ5):c.*1063G>A rs2846696
NM_000890.5(KCNJ5):c.*1091G>A rs565178107
NM_000890.5(KCNJ5):c.*1151C>T rs886048019
NM_000890.5(KCNJ5):c.*1168C>G rs1137937
NM_000890.5(KCNJ5):c.*1216C>T rs566376081
NM_000890.5(KCNJ5):c.*121G>T rs78979538
NM_000890.5(KCNJ5):c.*1302C>T rs552826605
NM_000890.5(KCNJ5):c.*1310C>T rs537850039
NM_000890.5(KCNJ5):c.*1323del rs886048020
NM_000890.5(KCNJ5):c.*1338C>A rs6590358
NM_000890.5(KCNJ5):c.*1338del rs144472942
NM_000890.5(KCNJ5):c.*200C>A rs756204980
NM_000890.5(KCNJ5):c.*228G>T rs886048013
NM_000890.5(KCNJ5):c.*34G>T rs116494206
NM_000890.5(KCNJ5):c.*378dup rs397799938
NM_000890.5(KCNJ5):c.*410C>T rs2846675
NM_000890.5(KCNJ5):c.*449A>T rs115414355
NM_000890.5(KCNJ5):c.*528C>T rs3867250
NM_000890.5(KCNJ5):c.*547G>A rs114896724
NM_000890.5(KCNJ5):c.*667C>T rs886048014
NM_000890.5(KCNJ5):c.*747A>G rs886048015
NM_000890.5(KCNJ5):c.*759C>T rs75453162
NM_000890.5(KCNJ5):c.*779G>T rs4373934
NM_000890.5(KCNJ5):c.*804G>T rs2604204
NM_000890.5(KCNJ5):c.*861_*865GTTTT[7] rs36205004
NM_000890.5(KCNJ5):c.*861_*865GTTTT[8] rs36205004
NM_000890.5(KCNJ5):c.*928C>T rs7925056
NM_000890.5(KCNJ5):c.*936C>G rs77525858
NM_000890.5(KCNJ5):c.*936C>T rs77525858
NM_000890.5(KCNJ5):c.*960G>C rs186315097
NM_000890.5(KCNJ5):c.*96G>A rs77092337
NM_000890.5(KCNJ5):c.*976G>A rs7102315
NM_000890.5(KCNJ5):c.*977T>C rs181648220
NM_000890.5(KCNJ5):c.*978T>G rs886048017
NM_000890.5(KCNJ5):c.-253G>T rs886048009
NM_000890.5(KCNJ5):c.-258_-255del rs886048008
NM_000890.5(KCNJ5):c.-272A>G rs886048007
NM_000890.5(KCNJ5):c.-284_-283insAAGAGA rs886048005
NM_000890.5(KCNJ5):c.-285G>C rs886048006
NM_000890.5(KCNJ5):c.-287G>C rs868130049
NM_000890.5(KCNJ5):c.-289G>C rs60658163
NM_000890.5(KCNJ5):c.-289_-288GA[18] rs71057905
NM_000890.5(KCNJ5):c.-289_-288GA[19] rs71057905
NM_000890.5(KCNJ5):c.-289_-288GA[20] rs71057905
NM_000890.5(KCNJ5):c.-291_-286del rs886048002
NM_000890.5(KCNJ5):c.-291_-288del rs886048001
NM_000890.5(KCNJ5):c.-291_-290GA[3] rs886048000
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAG rs886048003
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAGAG rs886048003
NM_000890.5(KCNJ5):c.-293C>G rs376640553
NM_000890.5(KCNJ5):c.-293_-288del rs886047997
NM_000890.5(KCNJ5):c.-293_-289delinsGAGAGAGAGAGAA rs886047999
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAGAGAGAG rs886047998
NM_000890.5(KCNJ5):c.-293_-292GA[3] rs886047996
NM_000890.5(KCNJ5):c.-293_-292GA[4] rs886047996
NM_000890.5(KCNJ5):c.-294_-293insGAGA rs886047996
NM_000890.5(KCNJ5):c.-295C>G rs372328307
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAG rs886047995
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAG rs886047995
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAGAGAGAG rs886047995
NM_000890.5(KCNJ5):c.-295_-294GA[3] rs886047994
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAG rs886047993
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAGAG rs886047993
NM_000890.5(KCNJ5):c.-299_-291delinsGAGAG rs886047992
NM_000890.5(KCNJ5):c.-301_-291delinsG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAG rs886047990
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAGAGAGAGAG rs886047990
NM_000890.5(KCNJ5):c.-303_-291delinsGAG rs886047988
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAG rs886047988
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAG rs886047988
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAGAGAGAGAGAGAGAGAG rs886047988
NM_000890.5(KCNJ5):c.-305_-291delinsGAGAG rs886047987
NM_000890.5(KCNJ5):c.-333_-332CA[24] rs113761140
NM_000890.5(KCNJ5):c.-63G>C rs557063967
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292
NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) rs115012103
NM_000890.5(KCNJ5):c.1254G>A (p.Ser418=) rs528463709
NM_000890.5(KCNJ5):c.171T>C (p.Ser57=) rs6590357
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=) rs146853795
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val) rs369703183
NM_000890.5(KCNJ5):c.591G>A (p.Ala197=) rs750048771
NM_000890.5(KCNJ5):c.744G>A (p.Glu248=) rs144040058
NM_000890.5(KCNJ5):c.800G>A (p.Arg267His) rs886048010
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=) rs7118824
NM_000890.5(KCNJ5):c.834T>C (p.His278=) rs7118833
NM_000890.5(KCNJ5):c.844C>G (p.Gln282Glu) rs7102584
NM_000890.5(KCNJ5):c.937+7C>T rs45516097
NM_000890.5(KCNJ5):c.938-10G>A rs4937391
NM_000890.5(KCNJ5):c.957G>A (p.Arg319=) rs192889782
NM_000890.5(KCNJ5):c.968T>C (p.Met323Thr) rs886048011
NM_000941.3(POR):c.1363del (p.Gln455fs) rs781805159
NM_000941.3(POR):c.1660C>T (p.Arg554Ter) rs782336856
NM_001018077.1(NR3C1):c.*101dup rs776865643
NM_001018077.1(NR3C1):c.*1055T>A rs886060051
NM_001018077.1(NR3C1):c.*1087_*1088dup rs886060050
NM_001018077.1(NR3C1):c.*1220_*1225dup rs72542761
NM_001018077.1(NR3C1):c.*1241C>T rs768128384
NM_001018077.1(NR3C1):c.*1245_*1248dup rs10482710
NM_001018077.1(NR3C1):c.*1407A>G rs886060049
NM_001018077.1(NR3C1):c.*149T>C rs886060059
NM_001018077.1(NR3C1):c.*1509C>A rs886060048
NM_001018077.1(NR3C1):c.*1589A>G rs886060047
NM_001018077.1(NR3C1):c.*2031C>T rs369162225
NM_001018077.1(NR3C1):c.*2151A>C rs746282402
NM_001018077.1(NR3C1):c.*2521T>A rs886060045
NM_001018077.1(NR3C1):c.*2601A>T rs886060043
NM_001018077.1(NR3C1):c.*2873G>A rs886060042
NM_001018077.1(NR3C1):c.*3046G>C rs886060041
NM_001018077.1(NR3C1):c.*3077G>A rs886060040
NM_001018077.1(NR3C1):c.*3319G>C rs886060039
NM_001018077.1(NR3C1):c.*3431G>C rs886060038
NM_001018077.1(NR3C1):c.*3466T>C rs886060037
NM_001018077.1(NR3C1):c.*36G>A rs761674033
NM_001018077.1(NR3C1):c.*3759dup rs772052566
NM_001018077.1(NR3C1):c.*401dup rs886060058
NM_001018077.1(NR3C1):c.*409del rs10482707
NM_001018077.1(NR3C1):c.*409dup rs10482707
NM_001018077.1(NR3C1):c.*618A>G rs886060056
NM_001018077.1(NR3C1):c.*750del rs886060055
NM_001018077.1(NR3C1):c.*752A>G rs869125609
NM_001018077.1(NR3C1):c.*766_*769dup rs34248080
NM_001018077.1(NR3C1):c.*768_*769dup rs34248080
NM_001018077.1(NR3C1):c.*769dup rs34248080
NM_001018077.1(NR3C1):c.*834_*837dup rs886060053
NM_001018077.1(NR3C1):c.*861_*868del rs547184962
NM_001018077.1(NR3C1):c.*946T>G rs886060052
NM_001018077.1(NR3C1):c.2307C>G (p.Ile769Met) rs886060060
NM_001018077.1(NR3C1):c.289G>A (p.Val97Met) rs886060062
NM_001018077.1(NR3C1):c.309A>T (p.Gly103=) rs779300133
NM_001018077.1(NR3C1):c.850A>G (p.Ile284Val) rs766200119
NM_001126113.2(TP53):c.*1422G>C rs17883782
NM_002382.4(MAX):c.37-15dupT rs747340873
NM_002382.5(MAX):c.*1023C>T rs886050629
NM_002382.5(MAX):c.*1123A>C rs552459072
NM_002382.5(MAX):c.*1127G>C rs4902357
NM_002382.5(MAX):c.*1229C>T rs562514408
NM_002382.5(MAX):c.*1276G>C rs748335228
NM_002382.5(MAX):c.*1278C>T rs541851564
NM_002382.5(MAX):c.*1285T>C rs886050628
NM_002382.5(MAX):c.*1308C>T rs527697025
NM_002382.5(MAX):c.*144C>T rs191382960
NM_002382.5(MAX):c.*170C>T rs762709691
NM_002382.5(MAX):c.*248A>T rs559154342
NM_002382.5(MAX):c.*297C>T rs561525266
NM_002382.5(MAX):c.*320T>G rs750680125
NM_002382.5(MAX):c.*344T>A rs561238353
NM_002382.5(MAX):c.*375G>A rs539220905
NM_002382.5(MAX):c.*404C>T rs4902359
NM_002382.5(MAX):c.*405G>A rs45440292
NM_002382.5(MAX):c.*44G>A rs767990726
NM_002382.5(MAX):c.*461C>T rs183428804
NM_002382.5(MAX):c.*503T>G rs886050633
NM_002382.5(MAX):c.*534G>A rs886050632
NM_002382.5(MAX):c.*565G>A rs1957948
NM_002382.5(MAX):c.*587G>A rs1957949
NM_002382.5(MAX):c.*603C>G rs117802316
NM_002382.5(MAX):c.*608_*609CA[1] rs886050631
NM_002382.5(MAX):c.*717T>C rs4902358
NM_002382.5(MAX):c.*7C>T rs199514174
NM_002382.5(MAX):c.*873T>C rs183467855
NM_002382.5(MAX):c.*92G>A rs45604339
NM_002382.5(MAX):c.*942C>T rs886050630
NM_002382.5(MAX):c.-100T>G rs111941208
NM_002382.5(MAX):c.-110A>T rs886050636
NM_002382.5(MAX):c.-126_-123AGTG[4] rs556734672
NM_002382.5(MAX):c.-126_-123AGTG[6] rs556734672
NM_002382.5(MAX):c.-127G>A rs886050637
NM_002382.5(MAX):c.-152_-151TG[8] rs886050638
NM_002382.5(MAX):c.-18C>T rs201456746
NM_002382.5(MAX):c.-30C>G rs755465193
NM_002382.5(MAX):c.-80G>A rs886050634
NM_002382.5(MAX):c.-94G>C rs536235832
NM_002382.5(MAX):c.-98G>T rs556543602
NM_002382.5(MAX):c.-99G>A rs570017996
NM_002382.5(MAX):c.25G>T (p.Val9Leu) rs201743423
NM_002734.4(PRKAR1A):c.*1014A>G rs886053311
NM_002734.4(PRKAR1A):c.*1062A>G rs752303671
NM_002734.4(PRKAR1A):c.*1118dupT rs886053312
NM_002734.4(PRKAR1A):c.*1168A>T rs886053313
NM_002734.4(PRKAR1A):c.*1212T>G rs8905
NM_002734.4(PRKAR1A):c.*1244T>C rs9925
NM_002734.4(PRKAR1A):c.*1346A>G rs545417998
NM_002734.4(PRKAR1A):c.*138C>A rs28730842
NM_002734.4(PRKAR1A):c.*1487C>T rs886053314
NM_002734.4(PRKAR1A):c.*151A>G rs11540571
NM_002734.4(PRKAR1A):c.*156C>T rs535007635
NM_002734.4(PRKAR1A):c.*1606A>G rs144632545
NM_002734.4(PRKAR1A):c.*172_*175delCTAA rs201146882
NM_002734.4(PRKAR1A):c.*1777C>T rs7977
NM_002734.4(PRKAR1A):c.*1835delA rs138320066
NM_002734.4(PRKAR1A):c.*1837G>T rs201999343
NM_002734.4(PRKAR1A):c.*1839G>A rs886053316
NM_002734.4(PRKAR1A):c.*1842A>T rs886053317
NM_002734.4(PRKAR1A):c.*2018C>T rs540185706
NM_002734.4(PRKAR1A):c.*2067T>C rs886053318
NM_002734.4(PRKAR1A):c.*2072G>A rs886053319
NM_002734.4(PRKAR1A):c.*2188C>G rs6958
NM_002734.4(PRKAR1A):c.*2196C>T rs886053320
NM_002734.4(PRKAR1A):c.*2197G>A rs533508012
NM_002734.4(PRKAR1A):c.*389T>G rs886053307
NM_002734.4(PRKAR1A):c.*526G>A rs886053308
NM_002734.4(PRKAR1A):c.*587delT rs398041821
NM_002734.4(PRKAR1A):c.*587dupT rs398041821
NM_002734.4(PRKAR1A):c.*672T>C rs546125048
NM_002734.4(PRKAR1A):c.*704T>G rs886053310
NM_002734.4(PRKAR1A):c.*722A>G rs555951287
NM_002734.4(PRKAR1A):c.*724T>A rs746409603
NM_002734.4(PRKAR1A):c.*759C>T rs62087489
NM_002734.4(PRKAR1A):c.*795G>T rs150031305
NM_002734.4(PRKAR1A):c.*812A>C rs116996069
NM_002734.4(PRKAR1A):c.*847A>G rs144299673
NM_002734.4(PRKAR1A):c.*870G>A rs8082254
NM_002734.4(PRKAR1A):c.*893G>C rs186568426
NM_002734.4(PRKAR1A):c.-16C>A rs886053305
NM_002734.4(PRKAR1A):c.-25C>T rs546338099
NM_002734.4(PRKAR1A):c.-53C>T rs886053304
NM_002734.4(PRKAR1A):c.-6-7C>T rs373646911
NM_002734.4(PRKAR1A):c.-75G>T rs559757120
NM_002734.4(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504
NM_002734.4(PRKAR1A):c.204G>A (p.Leu68=) rs74863634
NM_002734.4(PRKAR1A):c.221G>A (p.Arg74His) rs200069356
NM_002734.4(PRKAR1A):c.309G>A (p.Glu103=) rs746113372
NM_002734.4(PRKAR1A):c.349-5dupT rs3841514
NM_002734.4(PRKAR1A):c.546G>A (p.Thr182=) rs117639566
NM_002734.4(PRKAR1A):c.678C>T (p.Ile226=) rs200592054
NM_002734.4(PRKAR1A):c.87G>A (p.Ala29=) rs3730349
NM_003000.2(SDHB):c.*102A>G rs201155896
NM_003000.2(SDHB):c.*133T>C rs111686611
NM_003000.2(SDHB):c.-135G>A rs886045587
NM_003000.2(SDHB):c.-139G>T rs114522228
NM_003000.2(SDHB):c.-142A>G rs886045588
NM_003000.2(SDHB):c.-37T>C rs143031690
NM_003000.2(SDHB):c.-81G>T rs886045586
NM_003000.2(SDHB):c.113G>A (p.Arg38His) rs143058777
NM_003000.2(SDHB):c.158G>A (p.Gly53Glu) rs34916635
NM_003000.2(SDHB):c.170A>G (p.His57Arg) rs35962811
NM_003000.2(SDHB):c.18C>A (p.Ala6=) rs2746462
NM_003000.2(SDHB):c.21C>T (p.Leu7=) rs147815442
NM_003000.2(SDHB):c.24C>T (p.Ser8=) rs148738139
NM_003000.2(SDHB):c.300T>C (p.Ser100=) rs11541235
NM_003000.2(SDHB):c.424-16_424-14dup rs34261028
NM_003000.2(SDHB):c.424-19_424-14delTTCTTC rs34261028
NM_003000.2(SDHB):c.454T>C (p.Ser152Pro) rs886045584
NM_003000.2(SDHB):c.47C>G (p.Thr16Arg) rs775350144
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.700C>T (p.Leu234=) rs201728852
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_003001.3(SDHC):c.*1012G>T rs886045484
NM_003001.3(SDHC):c.*1025G>T rs16832859
NM_003001.3(SDHC):c.*1098T>C rs569588829
NM_003001.3(SDHC):c.*115T>G rs886045478
NM_003001.3(SDHC):c.*1181_*1182insA rs34067216
NM_003001.3(SDHC):c.*1190T>A rs549554302
NM_003001.3(SDHC):c.*1191A>T rs566186299
NM_003001.3(SDHC):c.*123C>G rs3813632
NM_003001.3(SDHC):c.*1314C>A rs376293449
NM_003001.3(SDHC):c.*1323G>A rs72714986
NM_003001.3(SDHC):c.*1332C>A rs886045485
NM_003001.3(SDHC):c.*1335A>G rs3935401
NM_003001.3(SDHC):c.*1378T>C rs116141910
NM_003001.3(SDHC):c.*1379C>T rs114731359
NM_003001.3(SDHC):c.*1481G>A rs886045486
NM_003001.3(SDHC):c.*1534G>T rs886045487
NM_003001.3(SDHC):c.*1584C>G rs886045488
NM_003001.3(SDHC):c.*1693G>A rs191417790
NM_003001.3(SDHC):c.*1695G>T rs886045489
NM_003001.3(SDHC):c.*1699A>G rs886045490
NM_003001.3(SDHC):c.*1731G>A rs115718047
NM_003001.3(SDHC):c.*174G>A rs886045479
NM_003001.3(SDHC):c.*1784G>C rs886045491
NM_003001.3(SDHC):c.*1800G>C rs72714988
NM_003001.3(SDHC):c.*1843C>A rs886045492
NM_003001.3(SDHC):c.*1889T>C rs746551127
NM_003001.3(SDHC):c.*1898C>A rs886045493
NM_003001.3(SDHC):c.*1918G>A rs867593097
NM_003001.3(SDHC):c.*2052C>G rs12239492
NM_003001.3(SDHC):c.*2111C>T rs115166758
NM_003001.3(SDHC):c.*2141C>A rs886045494
NM_003001.3(SDHC):c.*2156A>C rs116668612
NM_003001.3(SDHC):c.*2236C>A rs886045495
NM_003001.3(SDHC):c.*2264G>T rs886045496
NM_003001.3(SDHC):c.*2274G>A rs886045497
NM_003001.3(SDHC):c.*2318del rs57914150
NM_003001.3(SDHC):c.*247C>G rs540126021
NM_003001.3(SDHC):c.*251C>T rs886045480
NM_003001.3(SDHC):c.*34A>G rs886045477
NM_003001.3(SDHC):c.*385G>A rs8266
NM_003001.3(SDHC):c.*397G>A rs74124906
NM_003001.3(SDHC):c.*409G>A rs186995249
NM_003001.3(SDHC):c.*469G>A rs148834287
NM_003001.3(SDHC):c.*518G>A rs375109418
NM_003001.3(SDHC):c.*527G>T rs886045481
NM_003001.3(SDHC):c.*612C>T rs16865495
NM_003001.3(SDHC):c.*624A>G rs114438179
NM_003001.3(SDHC):c.*632A>G rs886045482
NM_003001.3(SDHC):c.*685C>T rs138085670
NM_003001.3(SDHC):c.*780G>A rs886045483
NM_003001.3(SDHC):c.*78G>A rs182629842
NM_003001.3(SDHC):c.*84G>C rs201210474
NM_003001.3(SDHC):c.*863G>A rs570400725
NM_003001.3(SDHC):c.*968A>G rs4600063
NM_003001.3(SDHC):c.-32T>C rs115782155
NM_003001.3(SDHC):c.-38G>A rs112556972
NM_003001.3(SDHC):c.120G>A (p.Arg40=) rs36097930
NM_003001.3(SDHC):c.15G>T (p.Leu5Phe) rs771746264
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003001.3(SDHC):c.21-10dupT rs759481419
NM_003001.3(SDHC):c.406-13delG rs752685687
NM_003001.3(SDHC):c.489T>C (p.Ser163=) rs559747670
NM_003001.3(SDHC):c.77+13G>C rs779727693
NM_003002.4(SDHD):c.*186A>G rs183918321
NM_003002.4(SDHD):c.*260T>A rs149570245
NM_003002.4(SDHD):c.*302A>G rs201163059
NM_003002.4(SDHD):c.*340A>G rs201280702
NM_003002.4(SDHD):c.*352C>G rs192900956
NM_003002.4(SDHD):c.*369A>G rs200753024
NM_003002.4(SDHD):c.*428A>G rs184654032
NM_003002.4(SDHD):c.*532A>T rs146261846
NM_003002.4(SDHD):c.*587A>G rs886047701
NM_003002.4(SDHD):c.*613T>C rs693441
NM_003002.4(SDHD):c.*622A>G rs142510105
NM_003002.4(SDHD):c.*648A>G rs201560447
NM_003002.4(SDHD):c.*663A>G rs200264243
NM_003002.4(SDHD):c.*71C>A rs886047700
NM_003002.4(SDHD):c.*738T>A rs886047702
NM_003002.4(SDHD):c.*803A>G rs17113461
NM_003002.4(SDHD):c.*815T>C rs886047703
NM_003002.4(SDHD):c.*822T>C rs201472512
NM_003002.4(SDHD):c.136G>A (p.Val46Met) rs886047699
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761
NM_003002.4(SDHD):c.80G>A (p.Arg27Lys) rs200671534
NM_004168.3(SDHA):c.-115T>C rs2303741
NM_004168.3(SDHA):c.-63G>A rs886060513
NM_004168.3(SDHA):c.-84dupC rs35805262
NM_004168.3(SDHA):c.1909-12_1909-11delCT rs372662724
NM_004168.4(SDHA):c.*133G>C rs193112615
NM_004168.4(SDHA):c.*189C>T rs185107377
NM_004168.4(SDHA):c.*75A>G rs886060517
NM_004168.4(SDHA):c.-1C>T rs560932680
NM_004168.4(SDHA):c.-4A>G rs377134185
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949
NM_004168.4(SDHA):c.1092C>T (p.Val364=) rs886060515
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) rs35964044
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646
NM_004168.4(SDHA):c.1580G>A (p.Arg527His) rs766352407
NM_004168.4(SDHA):c.163T>C (p.Tyr55His) rs142926807
NM_004168.4(SDHA):c.1664-8G>A rs199790689
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070
NM_004168.4(SDHA):c.1776T>C (p.His592=) rs1126538
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) rs6960
NM_004168.4(SDHA):c.1908+15C>T rs34504623
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) rs377632619
NM_004168.4(SDHA):c.269T>C (p.Val90Ala) rs886060514
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424
NM_004168.4(SDHA):c.441C>T (p.Pro147=) rs201453889
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr) rs375576259
NM_004168.4(SDHA):c.549C>T (p.Gly183=) rs61733344
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693
NM_004168.4(SDHA):c.771-11A>G rs2288461
NM_004168.4(SDHA):c.822C>T (p.Gly274=) rs34771391
NM_004168.4(SDHA):c.830C>T (p.Thr277Met) rs367721665
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100
NM_015074.3(KIF1B):c.*1049T>C rs189075267
NM_015074.3(KIF1B):c.*1104C>T rs886044995
NM_015074.3(KIF1B):c.*1117C>T rs182518399
NM_015074.3(KIF1B):c.*1118G>A rs7544928
NM_015074.3(KIF1B):c.*1133C>T rs4240912
NM_015074.3(KIF1B):c.*1134G>A rs763386544
NM_015074.3(KIF1B):c.*1159G>A rs4240913
NM_015074.3(KIF1B):c.*1361A>T rs2847347
NM_015074.3(KIF1B):c.*1363dupA rs567435289
NM_015074.3(KIF1B):c.*1715G>T rs755083691
NM_015074.3(KIF1B):c.*1986C>G rs557129908
NM_015074.3(KIF1B):c.*1997T>C rs886044997
NM_015074.3(KIF1B):c.*1999G>T rs886044998
NM_015074.3(KIF1B):c.*2012C>T rs181454124
NM_015074.3(KIF1B):c.*2019C>T rs185749715
NM_015074.3(KIF1B):c.*2032T>A rs190108168
NM_015074.3(KIF1B):c.*2042C>T rs1536262
NM_015074.3(KIF1B):c.*2247G>A rs1002076
NM_015074.3(KIF1B):c.*2268C>T rs574858597
NM_015074.3(KIF1B):c.*2321A>G rs567547345
NM_015074.3(KIF1B):c.*2379T>C rs886044999
NM_015074.3(KIF1B):c.*2412A>G rs886045000
NM_015074.3(KIF1B):c.*2567G>C rs750420134
NM_015074.3(KIF1B):c.*2661A>T rs6694522
NM_015074.3(KIF1B):c.*2687G>A rs886045001
NM_015074.3(KIF1B):c.*2698G>A rs115172954
NM_015074.3(KIF1B):c.*2740C>A rs144047666
NM_015074.3(KIF1B):c.*2743G>A rs886045002
NM_015074.3(KIF1B):c.*275_*280delCACACA rs111663673
NM_015074.3(KIF1B):c.*275_*280dupCACACA rs111663673
NM_015074.3(KIF1B):c.*277_*280delCACA rs111663673
NM_015074.3(KIF1B):c.*277_*280dupCACA rs111663673
NM_015074.3(KIF1B):c.*2786G>A rs886045003
NM_015074.3(KIF1B):c.*2798C>T rs369817908
NM_015074.3(KIF1B):c.*279C>T rs78490707
NM_015074.3(KIF1B):c.*279_*280delCA rs111663673
NM_015074.3(KIF1B):c.*279_*280dupCA rs111663673
NM_015074.3(KIF1B):c.*281T>C rs201136295
NM_015074.3(KIF1B):c.*281_*282dupTA rs886044986
NM_015074.3(KIF1B):c.*281_*286delTACACA rs886044990
NM_015074.3(KIF1B):c.*2840G>A rs886045004
NM_015074.3(KIF1B):c.*2858G>C rs546229540
NM_015074.3(KIF1B):c.*2869C>T rs3748580
NM_015074.3(KIF1B):c.*2895G>A rs184232081
NM_015074.3(KIF1B):c.*2978dupG rs145348144
NM_015074.3(KIF1B):c.*2T>C rs148690591
NM_015074.3(KIF1B):c.*3034C>T rs886045006
NM_015074.3(KIF1B):c.*3035G>A rs41301987
NM_015074.3(KIF1B):c.*305C>T rs886044992
NM_015074.3(KIF1B):c.*3146T>C rs886045007
NM_015074.3(KIF1B):c.*3154A>G rs41310365
NM_015074.3(KIF1B):c.*3202C>A rs886045008
NM_015074.3(KIF1B):c.*3341C>T rs139210251
NM_015074.3(KIF1B):c.*3386C>T rs765149352
NM_015074.3(KIF1B):c.*3418C>T rs559140260
NM_015074.3(KIF1B):c.*3639T>C rs551392566
NM_015074.3(KIF1B):c.*3644dupA rs775451005
NM_015074.3(KIF1B):c.*3697A>C rs762218807
NM_015074.3(KIF1B):c.*3716C>T rs756198031
NM_015074.3(KIF1B):c.*3742T>C rs78868210
NM_015074.3(KIF1B):c.*375A>G rs554239975
NM_015074.3(KIF1B):c.*3789C>T rs192963286
NM_015074.3(KIF1B):c.*3857G>A rs536529721
NM_015074.3(KIF1B):c.*3911A>G rs1138791
NM_015074.3(KIF1B):c.*3930C>T rs549049444
NM_015074.3(KIF1B):c.*3948G>A rs553404052
NM_015074.3(KIF1B):c.*3958A>G rs886045010
NM_015074.3(KIF1B):c.*3988G>A rs571451087
NM_015074.3(KIF1B):c.*4113C>T rs192312673
NM_015074.3(KIF1B):c.*4127dupA rs548680591
NM_015074.3(KIF1B):c.*4267A>G rs77474900
NM_015074.3(KIF1B):c.*4279dupT rs531640427
NM_015074.3(KIF1B):c.*4296T>C rs886045013
NM_015074.3(KIF1B):c.*4325G>A rs141688466
NM_015074.3(KIF1B):c.*4392A>G rs72867441
NM_015074.3(KIF1B):c.*456_*457delCT rs886044993
NM_015074.3(KIF1B):c.*4613G>A rs886045014
NM_015074.3(KIF1B):c.*4621C>T rs535976639
NM_015074.3(KIF1B):c.*4664_*4665insG rs571589510
NM_015074.3(KIF1B):c.*4697A>G rs886045015
NM_015074.3(KIF1B):c.*4742C>A rs775958997
NM_015074.3(KIF1B):c.*4919G>A rs886045016
NM_015074.3(KIF1B):c.*4958G>A rs150497684
NM_015074.3(KIF1B):c.*5019T>C rs3748581
NM_015074.3(KIF1B):c.*712G>A rs146717943
NM_015074.3(KIF1B):c.*744C>A rs886044994
NM_015074.3(KIF1B):c.*839C>T rs549614550
NM_015074.3(KIF1B):c.-127G>A rs528568887
NM_015074.3(KIF1B):c.-136C>T rs181820595
NM_015074.3(KIF1B):c.-146C>T rs867021284
NM_015074.3(KIF1B):c.-16_-15dupTA rs34063243
NM_015074.3(KIF1B):c.-208G>C rs146663377
NM_015074.3(KIF1B):c.-79-4A>G rs886044965
NM_015074.3(KIF1B):c.-80+1G>T rs140240544
NM_015074.3(KIF1B):c.1020-5delT rs886044976
NM_015074.3(KIF1B):c.107-8T>A rs749389756
NM_015074.3(KIF1B):c.1159G>A (p.Asp387Asn) rs377570278
NM_015074.3(KIF1B):c.1203A>G (p.Ser401=) rs763679404
NM_015074.3(KIF1B):c.1222T>C (p.Leu408=) rs886044977
NM_015074.3(KIF1B):c.1227G>A (p.Thr409=) rs17034660
NM_015074.3(KIF1B):c.146C>A (p.Ser49Tyr) rs143654307
NM_015074.3(KIF1B):c.1639+10C>T rs3753037
NM_015074.3(KIF1B):c.168C>T (p.Tyr56=) rs530566864
NM_015074.3(KIF1B):c.1817C>T (p.Thr606Ile) rs142881321
NM_015074.3(KIF1B):c.184-6_184-5delTT rs138324955
NM_015074.3(KIF1B):c.2192A>G (p.Asn731Ser) rs117525287
NM_015074.3(KIF1B):c.2455A>C (p.Ser819Arg) rs140015591
NM_015074.3(KIF1B):c.2466C>T (p.Asp822=) rs145846362
NM_015074.3(KIF1B):c.2692G>A (p.Gly898Ser) rs755314640
NM_015074.3(KIF1B):c.2736C>T (p.Asp912=) rs150831576
NM_015074.3(KIF1B):c.2847C>T (p.Ile949=) rs150904940
NM_015074.3(KIF1B):c.285C>G (p.Ala95=) rs12402052
NM_015074.3(KIF1B):c.2991+11G>T rs201224213
NM_015074.3(KIF1B):c.3121+9A>G rs149566646
NM_015074.3(KIF1B):c.315T>C (p.Tyr105=) rs144889528
NM_015074.3(KIF1B):c.3260A>G (p.Tyr1087Cys) rs2297881
NM_015074.3(KIF1B):c.3285-15A>T rs200470260
NM_015074.3(KIF1B):c.3285-15delA rs3215996
NM_015074.3(KIF1B):c.3318G>A (p.Thr1106=) rs574168097
NM_015074.3(KIF1B):c.3498G>A (p.Pro1166=) rs140229905
NM_015074.3(KIF1B):c.3507G>A (p.Pro1169=) rs147318592
NM_015074.3(KIF1B):c.3516A>G (p.Arg1172=) rs868389032
NM_015074.3(KIF1B):c.3587G>T (p.Ser1196Ile) rs745380720
NM_015074.3(KIF1B):c.363+6A>C rs114084418
NM_015074.3(KIF1B):c.364-10A>G rs886044966
NM_015074.3(KIF1B):c.364-15A>G rs771929965
NM_015074.3(KIF1B):c.3697C>T (p.Pro1233Ser) rs886044985
NM_015074.3(KIF1B):c.3726+6A>C rs114266141
NM_015074.3(KIF1B):c.3917+6A>G rs76519832
NM_015074.3(KIF1B):c.3929G>A (p.Arg1310His) rs140769726
NM_015074.3(KIF1B):c.3948T>C (p.Asp1316=) rs116089798
NM_015074.3(KIF1B):c.4017G>T (p.Leu1339Phe) rs760253167
NM_015074.3(KIF1B):c.4041T>C (p.His1347=) rs772429569
NM_015074.3(KIF1B):c.4127G>A (p.Arg1376His) rs149417293
NM_015074.3(KIF1B):c.4161A>G (p.Pro1387=) rs12125492
NM_015074.3(KIF1B):c.4458C>T (p.Pro1486=) rs147066476
NM_015074.3(KIF1B):c.4545C>T (p.Ser1515=) rs751084365
NM_015074.3(KIF1B):c.4660G>A (p.Val1554Met) rs77172218
NM_015074.3(KIF1B):c.4682G>A (p.Cys1561Tyr) rs145969842
NM_015074.3(KIF1B):c.4808+9C>T rs72867431
NM_015074.3(KIF1B):c.4882G>A (p.Glu1628Lys) rs143669846
NM_015074.3(KIF1B):c.5100C>T (p.Asn1700=) rs146436697
NM_015074.3(KIF1B):c.5112A>G (p.Ala1704=) rs75413741
NM_015074.3(KIF1B):c.5163C>A (p.Thr1721=) rs11121552
NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) rs61999305
NM_015074.3(KIF1B):c.608+7T>C rs886044967
NM_015074.3(KIF1B):c.608+8dupA rs139613776
NM_015074.3(KIF1B):c.721-15A>G rs755866386
NM_015074.3(KIF1B):c.865-10_865-7delCCTT rs886044975
NM_015665.5(AAAS):c.*32C>T rs138994144
NM_015665.6(AAAS):c.-130C>T rs149864679
NM_015665.6(AAAS):c.-73G>A rs561616104
NM_015665.6(AAAS):c.-84G>A rs886049653
NM_015665.6(AAAS):c.1140_1143TCTG[1] (p.Ser382fs) rs770214071
NM_015665.6(AAAS):c.11T>C (p.Leu4Pro) rs886049652
NM_015665.6(AAAS):c.124-4A>G rs886049651
NM_015665.6(AAAS):c.1244T>C (p.Met415Thr) rs200871966
NM_015665.6(AAAS):c.1249+8G>A rs200834285
NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter) rs751369041
NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln) rs112579822
NM_015665.6(AAAS):c.1416+8C>T rs370325323
NM_015665.6(AAAS):c.1450C>G (p.Leu484Val) rs764298213
NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp) rs886049649
NM_015665.6(AAAS):c.1515T>C (p.Pro505=) rs35282133
NM_015665.6(AAAS):c.1557T>C (p.Thr519=) rs112987708
NM_015665.6(AAAS):c.1566C>T (p.Ser522=) rs886049648
NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe) rs886049647
NM_015665.6(AAAS):c.1597G>A (p.Gly533Arg) rs34451260
NM_015665.6(AAAS):c.234G>A (p.Lys78=) rs145519240
NM_015665.6(AAAS):c.258T>A (p.Asp86Glu) rs749899811
NM_015665.6(AAAS):c.259G>T (p.Val87Leu) rs766985003
NM_015665.6(AAAS):c.333C>T (p.Ser111=) rs146770218
NM_015665.6(AAAS):c.414T>C (p.Asp138=) rs11540353
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549
NM_015665.6(AAAS):c.63C>G (p.His21Gln) rs200408293
NM_015665.6(AAAS):c.65A>G (p.Asn22Ser) rs774899476
NM_015665.6(AAAS):c.663C>G (p.Thr221=) rs886049650
NM_015665.6(AAAS):c.679T>C (p.Leu227=) rs80027466
NM_015665.6(AAAS):c.843C>G (p.Pro281=) rs145196232
NM_015665.6(AAAS):c.855C>T (p.Phe285=) rs1546808
NM_015665.6(AAAS):c.894C>T (p.Asp298=) rs199636211
NM_015665.6(AAAS):c.912T>G (p.Ala304=) rs138749872
NM_015665.6(AAAS):c.936-2A>G rs1565777639
NM_015665.6(AAAS):c.939C>T (p.Val313=) rs79881935
NM_015665.6(AAAS):c.996+12C>T rs200312077
NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile) rs146689929
NM_017841.2(SDHAF2):c.*113C>A rs886048416
NM_017841.2(SDHAF2):c.*12C>T rs113652589
NM_017841.2(SDHAF2):c.*170C>A rs886048417
NM_017841.2(SDHAF2):c.*172delA rs537244040
NM_017841.2(SDHAF2):c.*233C>T rs886048419
NM_017841.2(SDHAF2):c.*377T>C rs17702
NM_017841.2(SDHAF2):c.*378G>A rs7935377
NM_017841.2(SDHAF2):c.*389C>T rs886048420
NM_017841.2(SDHAF2):c.*415A>G rs61132686
NM_017841.2(SDHAF2):c.*446C>G rs886048421
NM_017841.2(SDHAF2):c.*456A>G rs6632
NM_017841.2(SDHAF2):c.*49A>G rs549312009
NM_017841.2(SDHAF2):c.*58G>A rs754124809
NM_017841.2(SDHAF2):c.*627G>T rs886048422
NM_017841.2(SDHAF2):c.*653A>G rs886048423
NM_017841.2(SDHAF2):c.*669A>G rs747631379
NM_017841.2(SDHAF2):c.*76C>T rs112750991
NM_017841.2(SDHAF2):c.330C>A (p.Asn110Lys) rs779335034
NM_017841.2(SDHAF2):c.36+10G>A rs114207859
NM_017841.2(SDHAF2):c.370+12G>A rs886048415
NM_017841.2(SDHAF2):c.63A>G (p.Leu21=) rs191513932
NM_017841.2(SDHAF2):c.97C>T (p.Arg33Cys) rs144867876
NM_017849.3(TMEM127):c.*1163C>T rs11691019
NM_017849.3(TMEM127):c.*1178A>G rs748572058
NM_017849.3(TMEM127):c.*1197T>C rs886056442
NM_017849.3(TMEM127):c.*1233C>T rs536712285
NM_017849.3(TMEM127):c.*1252C>G rs886056441
NM_017849.3(TMEM127):c.*1301T>C rs3770239
NM_017849.3(TMEM127):c.*1306C>T rs148119945
NM_017849.3(TMEM127):c.*1406G>A rs534881507
NM_017849.3(TMEM127):c.*1620C>T rs886056440
NM_017849.3(TMEM127):c.*1638G>C rs753339060
NM_017849.3(TMEM127):c.*1723C>T rs551200730
NM_017849.3(TMEM127):c.*1772G>A rs537225254
NM_017849.3(TMEM127):c.*1784C>T rs571939749
NM_017849.3(TMEM127):c.*1819C>A rs551671260
NM_017849.3(TMEM127):c.*1819C>G rs551671260
NM_017849.3(TMEM127):c.*1849T>G rs867431947
NM_017849.3(TMEM127):c.*1883_*1886dupTCTG rs886056439
NM_017849.3(TMEM127):c.*1958A>C rs7058
NM_017849.3(TMEM127):c.*2012C>T rs149122699
NM_017849.3(TMEM127):c.*2086C>T rs13418193
NM_017849.3(TMEM127):c.*2101_*2103delTTT rs3832113
NM_017849.3(TMEM127):c.*2121G>T rs778493549
NM_017849.3(TMEM127):c.*2171C>T rs555968113
NM_017849.3(TMEM127):c.*2245A>G rs886056438
NM_017849.3(TMEM127):c.*2270dupT rs886056437
NM_017849.3(TMEM127):c.*2291_*2292delAA rs566328757
NM_017849.3(TMEM127):c.*2300G>A rs117655540
NM_017849.3(TMEM127):c.*2445G>T rs886056436
NM_017849.3(TMEM127):c.*2498C>T rs191565203
NM_017849.3(TMEM127):c.*249G>A rs886056446
NM_017849.3(TMEM127):c.*2503C>T rs886056435
NM_017849.3(TMEM127):c.*2548T>C rs886056434
NM_017849.3(TMEM127):c.*2642C>T rs886056433
NM_017849.3(TMEM127):c.*2717C>G rs886056432
NM_017849.3(TMEM127):c.*2719G>A rs140164805
NM_017849.3(TMEM127):c.*2760A>C rs886056431
NM_017849.3(TMEM127):c.*2845T>G rs182729595
NM_017849.3(TMEM127):c.*2888delT rs139762991
NM_017849.3(TMEM127):c.*2966C>G rs17119378
NM_017849.3(TMEM127):c.*3025G>C rs886056430
NM_017849.3(TMEM127):c.*3134C>T rs566067694
NM_017849.3(TMEM127):c.*3206_*3208delGTT rs141956691
NM_017849.3(TMEM127):c.*3209A>G rs186348610
NM_017849.3(TMEM127):c.*3348G>C rs886056429
NM_017849.3(TMEM127):c.*338G>A rs13022177
NM_017849.3(TMEM127):c.*3560G>T rs886056428
NM_017849.3(TMEM127):c.*3568C>G rs886056427
NM_017849.3(TMEM127):c.*3569C>T rs140274612
NM_017849.3(TMEM127):c.*502C>T rs191970829
NM_017849.3(TMEM127):c.*50C>T rs72937654
NM_017849.3(TMEM127):c.*57C>T rs147532087
NM_017849.3(TMEM127):c.*662G>A rs886056445
NM_017849.3(TMEM127):c.*674dupC rs201871634
NM_017849.3(TMEM127):c.*760delA rs371530522
NM_017849.3(TMEM127):c.*760dupA rs371530522
NM_017849.3(TMEM127):c.*883C>G rs886056443
NM_017849.3(TMEM127):c.*980G>A rs77989183
NM_017849.3(TMEM127):c.-131-7C>T rs886056450
NM_017849.3(TMEM127):c.-196C>T rs886056451
NM_017849.3(TMEM127):c.-220T>C rs886056452
NM_017849.3(TMEM127):c.-242G>A rs886056453
NM_017849.3(TMEM127):c.-37A>G rs886056449
NM_017849.3(TMEM127):c.-59C>T rs542087360
NM_017849.3(TMEM127):c.-87C>T rs527792197
NM_017849.3(TMEM127):c.182G>C (p.Cys61Ser) rs886056448
NM_017849.3(TMEM127):c.281G>A (p.Arg94Gln) rs746831347
NM_017849.3(TMEM127):c.288C>T (p.Ile96=) rs758726687
NM_017849.3(TMEM127):c.299G>C (p.Cys100Ser) rs886056447
NM_017849.3(TMEM127):c.379C>T (p.Arg127Cys) rs746883021
NM_017849.3(TMEM127):c.394G>A (p.Ala132Thr) rs750870974
NM_017849.3(TMEM127):c.409+7C>T rs189327749
NM_017849.3(TMEM127):c.472C>G (p.Gln158Glu) rs769988721
NM_017849.3(TMEM127):c.53C>T (p.Pro18Leu) rs377740271
NM_017849.3(TMEM127):c.565C>T (p.Leu189=) rs146965678
NM_017849.3(TMEM127):c.589C>T (p.Arg197Cys) rs140860906
NM_017849.3(TMEM127):c.621G>A (p.Ala207=) rs3852673
NM_017849.3(TMEM127):c.654G>A (p.Glu218=) rs776822044
NM_018081.2(WRAP53):c.-206G>A rs17551150
NM_018081.2(WRAP53):c.-245G>C rs17883670
NM_018081.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499
NM_018081.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282
NM_018081.2(WRAP53):c.407C>G (p.Pro136Arg) rs34067256
NM_018081.2(WRAP53):c.450C>T (p.Phe150=) rs2287498
NM_020630.5(RET):c.-196C>A rs10900297
NM_020630.5(RET):c.-200A>G rs10900296
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.*1020G>T rs886047004
NM_020975.6(RET):c.*1103C>T rs886047005
NM_020975.6(RET):c.*1109T>C rs886047006
NM_020975.6(RET):c.*1116T>C rs2435355
NM_020975.6(RET):c.*1130A>G rs572936041
NM_020975.6(RET):c.*1212C>T rs551902553
NM_020975.6(RET):c.*1233T>C rs886047007
NM_020975.6(RET):c.*1278del rs886047008
NM_020975.6(RET):c.*1337A>T rs886047009
NM_020975.6(RET):c.*1345G>T rs886047010
NM_020975.6(RET):c.*1348G>A rs149252070
NM_020975.6(RET):c.*1489G>A rs535080963
NM_020975.6(RET):c.*1506G>A rs2742241
NM_020975.6(RET):c.*1558A>C rs142572876
NM_020975.6(RET):c.*1583G>A rs192065891
NM_020975.6(RET):c.*1591G>A rs76759170
NM_020975.6(RET):c.*1599G>A rs145954635
NM_020975.6(RET):c.*1644G>C rs117119161
NM_020975.6(RET):c.*1646T>G rs886047011
NM_020975.6(RET):c.*1659T>C rs886047012
NM_020975.6(RET):c.*1742G>A rs143369221
NM_020975.6(RET):c.*175C>G rs886046990
NM_020975.6(RET):c.*1797T>C rs886047013
NM_020975.6(RET):c.*1797T>G rs886047013
NM_020975.6(RET):c.*1870C>T rs146771196
NM_020975.6(RET):c.*1969T>C rs3026785
NM_020975.6(RET):c.*330A>G rs141460872
NM_020975.6(RET):c.*358G>T rs886046991
NM_020975.6(RET):c.*368G>T rs756051983
NM_020975.6(RET):c.*388G>A rs3026782
NM_020975.6(RET):c.*446A>G rs886046992
NM_020975.6(RET):c.*453G>T rs886046993
NM_020975.6(RET):c.*499dup rs201945709
NM_020975.6(RET):c.*506G>T rs886046995
NM_020975.6(RET):c.*509A>G rs886046996
NM_020975.6(RET):c.*538G>T rs886046997
NM_020975.6(RET):c.*553G>T rs886046998
NM_020975.6(RET):c.*576G>A rs185408658
NM_020975.6(RET):c.*600delinsTT rs886046999
NM_020975.6(RET):c.*749dup rs886047000
NM_020975.6(RET):c.*763C>T rs886047001
NM_020975.6(RET):c.*824G>T rs886047002
NM_020975.6(RET):c.*84G>A rs558718557
NM_020975.6(RET):c.*935C>A rs886047003
NM_020975.6(RET):c.*95C>T rs17028
NM_020975.6(RET):c.-132G>T rs886046985
NM_020975.6(RET):c.-158G>A rs886046984
NM_020975.6(RET):c.-187C>A rs886046983
NM_020975.6(RET):c.1109T>A (p.Met370Lys) rs886046987
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208
NM_020975.6(RET):c.1162G>A (p.Val388Ile) rs776223166
NM_020975.6(RET):c.1264-5C>T rs9282835
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919
NM_020975.6(RET):c.1420C>T (p.Arg474Trp) rs775842917
NM_020975.6(RET):c.1523-7C>T rs567967877
NM_020975.6(RET):c.1618A>G (p.Arg540Gly) rs543376293
NM_020975.6(RET):c.1760-12G>A rs377767392
NM_020975.6(RET):c.1879+14G>A rs532810255
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011
NM_020975.6(RET):c.2037C>T (p.Pro679=) rs55862116
NM_020975.6(RET):c.2050C>T (p.Pro684Ser) rs141347316
NM_020975.6(RET):c.2052G>A (p.Pro684=) rs145122337
NM_020975.6(RET):c.2070C>T (p.Ser690=) rs201550433
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150
NM_020975.6(RET):c.220G>A (p.Gly74Ser) rs764938319
NM_020975.6(RET):c.2467G>A (p.Gly823Arg) rs138847998
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862
NM_020975.6(RET):c.2580G>A (p.Gln860=) rs886046988
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863
NM_020975.6(RET):c.2847A>G (p.Gly949=) rs886046989
NM_020975.6(RET):c.2876G>A (p.Arg959Gln) rs745650861
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.6(RET):c.2976G>A (p.Pro992=) rs528823385
NM_020975.6(RET):c.2988G>A (p.Pro996=) rs145798106
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala) rs756465544
NM_020975.6(RET):c.334C>T (p.Arg112Cys) rs762626209
NM_020975.6(RET):c.337+12G>A rs200468424
NM_020975.6(RET):c.337+9G>A rs2435351
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859
NM_020975.6(RET):c.432C>T (p.Arg144=) rs756999107
NM_020975.6(RET):c.596A>G (p.Asn199Ser) rs886046986
NM_020975.6(RET):c.597C>T (p.Asn199=) rs55810667
NM_020975.6(RET):c.654G>A (p.Pro218=) rs137928436
NM_020975.6(RET):c.693C>T (p.Arg231=) rs576806329
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185
NM_020975.6(RET):c.957C>A (p.Leu319=) rs149926238
NM_183416.4(KIF1B):c.-260C>T rs149705989
NM_198407.2(GHSR):c.*1024G>C rs9880206
NM_198407.2(GHSR):c.*1046T>A rs756728640
NM_198407.2(GHSR):c.*1109G>T rs562416
NM_198407.2(GHSR):c.*114A>G rs477251
NM_198407.2(GHSR):c.*122C>T rs482204
NM_198407.2(GHSR):c.*1268T>C rs755925335
NM_198407.2(GHSR):c.*1308T>G rs73039028
NM_198407.2(GHSR):c.*1345G>T rs886058181
NM_198407.2(GHSR):c.*1506C>A rs886058180
NM_198407.2(GHSR):c.*1554C>T rs754352155
NM_198407.2(GHSR):c.*1608C>T rs886058179
NM_198407.2(GHSR):c.*1676_*1679del rs150657222
NM_198407.2(GHSR):c.*1815C>G rs762604209
NM_198407.2(GHSR):c.*1832G>A rs886058178
NM_198407.2(GHSR):c.*1880delA rs5854471
NM_198407.2(GHSR):c.*294C>A rs543920867
NM_198407.2(GHSR):c.*300G>A rs886058185
NM_198407.2(GHSR):c.*472C>T rs886058184
NM_198407.2(GHSR):c.*561_*568delTTACAGAA rs146582211
NM_198407.2(GHSR):c.*758G>A rs886058183
NM_198407.2(GHSR):c.*792G>C rs9880652
NM_198407.2(GHSR):c.*796A>T rs58550930
NM_198407.2(GHSR):c.*813A>G rs147683685
NM_198407.2(GHSR):c.*829C>A rs535110477
NM_198407.2(GHSR):c.*834C>A rs565105
NM_198407.2(GHSR):c.*842T>A rs886058182
NM_198407.2(GHSR):c.-23G>A rs200645708
NM_198407.2(GHSR):c.1017A>G (p.Gly339=) rs138507814
NM_198407.2(GHSR):c.1051C>T (p.Leu351=) rs777016625
NM_198407.2(GHSR):c.171C>T (p.Gly57=) rs495225
NM_198407.2(GHSR):c.271C>T (p.Leu91Phe) rs79053943
NM_198407.2(GHSR):c.447C>G (p.Leu149=) rs2232169
NM_198407.2(GHSR):c.477G>A (p.Arg159=) rs572169
NM_198407.2(GHSR):c.60C>T (p.Asp20=) rs2232165
NM_198407.2(GHSR):c.709A>T (p.Arg237Trp) rs199588904
NM_198407.2(GHSR):c.847C>T (p.Arg283Ter) rs148371213

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