ClinVar Miner

List of variants reported as likely pathogenic for adrenal gland disease

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 601
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HGVS dbSNP
NC_000001.11:g.(?_161340594)_(161340655_?)dup
NC_000017.11:g.(?_7668402)_(7669690_?)del
NC_000017.11:g.(?_7669603)_(7670721_?)del
NM_000033.3(ABCD1):c.1366dupC (p.Arg456Profs) rs193922093
NM_000033.3(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.3(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.3(ABCD1):c.1826A>G (p.Glu609Gly) rs1557055260
NM_000033.3(ABCD1):c.1866-1G>A
NM_000033.3(ABCD1):c.1998_1999insGC (p.His667Alafs) rs1557055392
NM_000033.3(ABCD1):c.2035T>A (p.Trp679Arg) rs1557055405
NM_000033.3(ABCD1):c.442A>T (p.Asn148Tyr) rs1557052362
NM_000033.3(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.3(ABCD1):c.651G>C (p.Lys217Asn) rs864309520
NM_000033.3(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.3(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.3(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr)
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile)
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
NM_000033.4(ABCD1):c.2010dup (p.Leu671Alafs)
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro)
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser)
NM_000102.3(CYP17A1):c.1241C>T (p.Pro414Leu) rs1554879846
NM_000244.3(MEN1):c.1028dupT (p.Gln344Alafs) rs386134245
NM_000244.3(MEN1):c.1064+2T>C rs1555164946
NM_000244.3(MEN1):c.1078delC (p.Arg360Glyfs) rs386134246
NM_000244.3(MEN1):c.1189dupG (p.Glu397Glyfs) rs386134247
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000244.3(MEN1):c.1326dup (p.Thr443Hisfs) rs1555164184
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.252dupT (p.Ile85Tyrfs) rs386134253
NM_000244.3(MEN1):c.417C>G (p.His139Gln) rs386134254
NM_000244.3(MEN1):c.480_481insAATT (p.Gly161Asnfs) rs386134255
NM_000244.3(MEN1):c.664_669+2delGAGCGGGT rs386134258
NM_000244.3(MEN1):c.773C>A (p.Ser258Ter) rs386134259
NM_000244.3(MEN1):c.970dupT (p.Tyr324Leufs) rs386134261
NM_000286.2(PEX12):c.1047_1049delACA (p.Gln349del) rs267608184
NM_000286.2(PEX12):c.126+2T>A rs1555549902
NM_000286.2(PEX12):c.190_194del5 (p.Thr64Alafs) rs1214971073
NM_000286.2(PEX12):c.1_2delAT (p.Met1Glyfs) rs1555549923
NM_000286.2(PEX12):c.211C>T (p.Gln71Ter) rs767447750
NM_000286.2(PEX12):c.222T>A (p.Tyr74Ter) rs765404768
NM_000286.2(PEX12):c.223_224delCT (p.Leu75Valfs) rs1555549876
NM_000286.2(PEX12):c.268_271delAAGA (p.Lys90Glufs) rs61752100
NM_000286.2(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.2(PEX12):c.429_431delTTCinsGAA (p.Tyr143Ter) rs1555549862
NM_000286.2(PEX12):c.460C>T (p.Arg154Ter) rs1555549855
NM_000286.2(PEX12):c.49C>T (p.Gln17Ter) rs888633730
NM_000286.2(PEX12):c.533_535delAAC (p.Gln178del) rs61752102
NM_000286.2(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.2(PEX12):c.644delC (p.Pro215Glnfs) rs1199283977
NM_000286.2(PEX12):c.664C>T (p.Gln222Ter) rs1555549841
NM_000286.2(PEX12):c.680+1G>A rs904972651
NM_000286.2(PEX12):c.681-2A>C rs187526749
NM_000286.2(PEX12):c.684_687delTAGT (p.Ser229Argfs) rs62642859
NM_000286.2(PEX12):c.687_690delTGAG (p.Ser229Argfs) rs1555549769
NM_000286.2(PEX12):c.69_76dup (p.Gln26Argfs) rs1238451790
NM_000286.2(PEX12):c.771delC (p.Leu258Cysfs) rs1555549754
NM_000286.2(PEX12):c.781delC (p.Asp262Thrfs) rs754193088
NM_000286.2(PEX12):c.789G>A (p.Trp263Ter) rs747099919
NM_000286.2(PEX12):c.88_89delAT (p.Met30Aspfs) rs1555549909
NM_000286.2(PEX12):c.894delC (p.Met300Terfs) rs398123302
NM_000286.2(PEX12):c.961_964delGGCT (p.Gly321Metfs) rs749650201
NM_000286.2(PEX12):c.978C>A (p.Tyr326Ter) rs941358133
NM_000287.3(PEX6):c.1046+1G>A rs1554127968
NM_000287.3(PEX6):c.1130+2T>C rs1416001981
NM_000287.3(PEX6):c.1234-1G>T rs1554127533
NM_000287.3(PEX6):c.133G>T (p.Glu45Ter) rs1356280167
NM_000287.3(PEX6):c.1368-2delA rs1554127415
NM_000287.3(PEX6):c.1479+2delT rs1554127383
NM_000287.3(PEX6):c.2082delT (p.Gly695Glufs) rs766483138
NM_000287.3(PEX6):c.2362+1G>A rs1443107232
NM_000287.3(PEX6):c.2362G>A (p.Val788Met) rs267608240
NM_000287.3(PEX6):c.2435G>A (p.Arg812Gln) rs61753229
NM_000287.3(PEX6):c.2439dup (p.Arg814Alafs) rs1554126955
NM_000287.3(PEX6):c.2472-2A>G rs267608242
NM_000287.3(PEX6):c.2692delC (p.Leu898Trpfs) rs1554126798
NM_000287.3(PEX6):c.273G>A (p.Trp91Ter) rs1010184002
NM_000287.3(PEX6):c.2806+1G>A rs751900826
NM_000287.3(PEX6):c.2T>G (p.Met1Arg) rs1554128597
NM_000287.3(PEX6):c.311delG (p.Gly104Valfs) rs61753209
NM_000287.3(PEX6):c.385_388delGAGA (p.Glu129Profs) rs1554128501
NM_000287.3(PEX6):c.406delCinsAT (p.Pro136Ilefs) rs1554128488
NM_000287.3(PEX6):c.42_43dup (p.Glu15Alafs) rs1554128586
NM_000287.3(PEX6):c.462delG (p.Leu155Trpfs) rs1554128476
NM_000287.3(PEX6):c.506_507delAG (p.Glu169Valfs) rs1554128461
NM_000287.3(PEX6):c.510dup (p.Gly171Trpfs) rs1491384052
NM_000287.3(PEX6):c.821C>T (p.Pro274Leu) rs61753219
NM_000287.4(PEX6):c.1841del (p.Leu614Argfs) rs863225083
NM_000318.2(PEX2):c.304C>T (p.Gln102Ter) rs200065382
NM_000318.2(PEX2):c.339_345delCAGGTGG (p.Arg114Terfs) rs764771123
NM_000318.2(PEX2):c.354_355delAC (p.Arg119Metfs) rs1554584505
NM_000318.2(PEX2):c.373C>T (p.Arg125Ter) rs61752124
NM_000318.2(PEX2):c.472delC (p.Leu158Phefs) rs1554584487
NM_000318.2(PEX2):c.502_503delGA (p.Glu168Thrfs) rs1554584474
NM_000318.2(PEX2):c.834_838del5 (p.Phe278Leufs) rs267608188
NM_000349.2(STAR):c.135delT (p.Ser46Alafs) rs193922393
NM_000349.2(STAR):c.178+1G>C rs1554503011
NM_000349.2(STAR):c.179-2A>G rs1554502986
NM_000349.2(STAR):c.229C>T (p.Gln77Ter) rs781281145
NM_000349.2(STAR):c.298_299delAG (p.Gln101Alafs) rs765904696
NM_000349.2(STAR):c.505G>A (p.Glu169Lys) rs747169620
NM_000349.2(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000349.2(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000349.2(STAR):c.559G>A (p.Val187Met) rs104894089
NM_000349.2(STAR):c.629_630delCT (p.Pro210Argfs) rs771895449
NM_000349.2(STAR):c.64+2T>C rs1298369560
NM_000349.2(STAR):c.651-1G>C rs749626865
NM_000349.2(STAR):c.677delT (p.Val226Glyfs) rs1554502732
NM_000349.2(STAR):c.695delG (p.Gly232Glufs) rs757367795
NM_000349.2(STAR):c.714delA (p.Lys238Asnfs) rs1417088430
NM_000349.2(STAR):c.716_732del17 (p.Leu239Hisfs) rs1554502725
NM_000349.2(STAR):c.745-1_757del14 rs1554502668
NM_000349.2(STAR):c.779T>C (p.Leu260Pro) rs551783234
NM_000349.2(STAR):c.801dup (p.Ala268Cysfs) rs1554502663
NM_000349.2(STAR):c.811delC (p.Leu271Cysfs) rs1350908961
NM_000383.3(AIRE):c.1002delC (p.Trp335Glyfs) rs769305771
NM_000383.3(AIRE):c.1066dup (p.Arg356Profs) rs1555872879
NM_000383.3(AIRE):c.1084delG (p.Val362Trpfs) rs1057517254
NM_000383.3(AIRE):c.1095+1G>A rs1022025101
NM_000383.3(AIRE):c.1116_1117delGG (p.Ala373Glyfs) rs1057516411
NM_000383.3(AIRE):c.1163_1164insA (p.Met388Ilefs) rs386833672
NM_000383.3(AIRE):c.1209_1213dup (p.Pro405Glnfs) rs1555872997
NM_000383.3(AIRE):c.1249dupC (p.Leu417Profs) rs786204567
NM_000383.3(AIRE):c.1278+1delG rs996389327
NM_000383.3(AIRE):c.1279-2A>G rs1555873087
NM_000383.3(AIRE):c.1470dup (p.Ser491Glnfs) rs1555873248
NM_000383.3(AIRE):c.1480_1483delCGCC (p.Arg494Trpfs) rs1057517072
NM_000383.3(AIRE):c.1566+2T>A rs1057516985
NM_000383.3(AIRE):c.1566+2dupT rs1057516811
NM_000383.3(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.3(AIRE):c.1616C>T (p.Pro539Leu) rs179363889
NM_000383.3(AIRE):c.1638A>T (p.Ter546Cys) rs386833673
NM_000383.3(AIRE):c.1A>G (p.Met1Val) rs121434258
NM_000383.3(AIRE):c.20_24del5 (p.Leu7Profs) rs1555871777
NM_000383.3(AIRE):c.232T>C (p.Trp78Arg) rs179363880
NM_000383.3(AIRE):c.233G>A (p.Trp78Ter) rs1057516499
NM_000383.3(AIRE):c.255C>A (p.Tyr85Ter) rs1057516225
NM_000383.3(AIRE):c.260delT (p.Leu87Argfs) rs1057517428
NM_000383.3(AIRE):c.268T>C (p.Tyr90His) rs1555871902
NM_000383.3(AIRE):c.274C>T (p.Arg92Trp) rs140630532
NM_000383.3(AIRE):c.319_321delAGCinsTG (p.Ser107Cysfs) rs1555871928
NM_000383.3(AIRE):c.328delC (p.Arg110Glyfs) rs1162316051
NM_000383.3(AIRE):c.342G>T (p.Lys114Asn) rs142788946
NM_000383.3(AIRE):c.371C>T (p.Pro124Leu) rs193922417
NM_000383.3(AIRE):c.457_458delAGinsC (p.Ser153Profs) rs1057516314
NM_000383.3(AIRE):c.463+2T>C rs786204478
NM_000383.3(AIRE):c.463G>A (p.Gly155Ser) rs193922418
NM_000383.3(AIRE):c.464-2A>T rs1032171597
NM_000383.3(AIRE):c.512_516dup (p.Gln173Serfs) rs1555872060
NM_000383.3(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.3(AIRE):c.62C>T (p.Ala21Val) rs179363886
NM_000383.3(AIRE):c.652+1G>T rs199612115
NM_000383.3(AIRE):c.652+2T>C rs1555872272
NM_000383.3(AIRE):c.798+1G>A rs138489664
NM_000383.3(AIRE):c.798+1G>C rs138489664
NM_000383.3(AIRE):c.798+1G>T rs138489664
NM_000383.3(AIRE):c.809_810delAG (p.Glu270Glyfs) rs1057517268
NM_000383.3(AIRE):c.932G>A (p.Cys311Tyr) rs386833674
NM_000383.3(AIRE):c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs) rs386833675
NM_000383.3(AIRE):c.977delC (p.Pro326Argfs) rs1057517011
NM_000383.3:c.1490delC
NM_000466.2(PEX1):c.1074_1075delGA (p.Lys359Alafs) rs1057517488
NM_000466.2(PEX1):c.1076delA (p.Lys359Serfs) rs1057517465
NM_000466.2(PEX1):c.1108delA (p.Ile370Leufs) rs61750406
NM_000466.2(PEX1):c.1155delA (p.Val386Terfs) rs1057517520
NM_000466.2(PEX1):c.130-1G>C rs1028247729
NM_000466.2(PEX1):c.1522dupG (p.Glu508Glyfs) rs1057517463
NM_000466.2(PEX1):c.1527delA (p.Glu510Lysfs) rs1057517497
NM_000466.2(PEX1):c.1528G>T (p.Glu510Ter) rs754983126
NM_000466.2(PEX1):c.1587+1G>A rs1057517469
NM_000466.2(PEX1):c.1670+1G>T rs1057517490
NM_000466.2(PEX1):c.1765G>T (p.Gly589Ter) rs1057517489
NM_000466.2(PEX1):c.1842delA (p.Glu615Lysfs) rs267608176
NM_000466.2(PEX1):c.1908delG (p.Arg636Serfs) rs1057517478
NM_000466.2(PEX1):c.1921C>T (p.Gln641Ter) rs1057517464
NM_000466.2(PEX1):c.1926_1927delAAinsC (p.Lys642Asnfs) rs1057517529
NM_000466.2(PEX1):c.1964_1970dup (p.Val658Alafs) rs1057517486
NM_000466.2(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.2(PEX1):c.1A>T (p.Met1Leu) rs1057517501
NM_000466.2(PEX1):c.2034_2035delCA (p.His678Glnfs) rs61750412
NM_000466.2(PEX1):c.2137C>T (p.Gln713Ter) rs1057517468
NM_000466.2(PEX1):c.2162_2166del5 (p.Leu721Cysfs) rs1057517499
NM_000466.2(PEX1):c.2617C>T (p.Gln873Ter) rs1057517470
NM_000466.2(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.2(PEX1):c.2723delC (p.Pro908Glnfs) rs1057517503
NM_000466.2(PEX1):c.2798dupA (p.Pro934Alafs) rs1057517484
NM_000466.2(PEX1):c.2859dupT (p.Thr954Tyrfs) rs1057517472
NM_000466.2(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.2(PEX1):c.2922delA (p.Leu974Phefs) rs762324548
NM_000466.2(PEX1):c.2927-2A>G rs1057517531
NM_000466.2(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.2(PEX1):c.3208-1G>A rs1057517518
NM_000466.2(PEX1):c.3237_3238delAA (p.Leu1081Valfs) rs1057517509
NM_000466.2(PEX1):c.3455_3456delCT (p.Ser1152Cysfs) rs759183382
NM_000466.2(PEX1):c.348G>A (p.Trp116Ter) rs1057517487
NM_000466.2(PEX1):c.3547G>T (p.Glu1183Ter) rs1057517480
NM_000466.2(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.2(PEX1):c.358-1G>T rs1057517479
NM_000466.2(PEX1):c.358-2A>G rs1057517500
NM_000466.2(PEX1):c.431dupC (p.Val145Cysfs) rs1057517506
NM_000466.2(PEX1):c.734delT (p.Leu245Tyrfs) rs1057517522
NM_000466.2(PEX1):c.892_895dupTATA (p.Asn299Ilefs) rs1057517505
NM_000466.3(PEX1):c.1670+1G>A rs1057517490
NM_000475.4(NR0B1):c.1094T>C (p.Leu365Pro) rs386134262
NM_000475.4(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000475.4(NR0B1):c.848A>C (p.Gln283Pro) rs1060499835
NM_000497.3(CYP11B1):c.1120C>T (p.Arg374Trp) rs61752786
NM_000497.3(CYP11B1):c.1128C>A (p.Tyr376Ter) rs760880418
NM_000497.3(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023
NM_000497.3(CYP11B1):c.1159dup (p.Ser387Lysfs) rs1379392398
NM_000497.3(CYP11B1):c.1205delT (p.Leu402Trpfs) rs1554652650
NM_000497.3(CYP11B1):c.125C>T (p.Pro42Leu) rs193922538
NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755
NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938
NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His) rs28934586
NM_000497.3(CYP11B1):c.1361G>A (p.Arg454His) rs367634557
NM_000497.3(CYP11B1):c.1398+2T>C rs577022490
NM_000497.3(CYP11B1):c.147delG (p.Trp49Cysfs) rs748867146
NM_000497.3(CYP11B1):c.168G>A (p.Trp56Ter) rs1383321200
NM_000497.3(CYP11B1):c.217C>T (p.Gln73Ter) rs1554653675
NM_000497.3(CYP11B1):c.264G>A (p.Met88Ile) rs193922539
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.3(CYP11B1):c.304C>T (p.Gln102Ter) rs1554653551
NM_000497.3(CYP11B1):c.395+1G>C rs1554653514
NM_000497.3(CYP11B1):c.413G>A (p.Arg138His) rs193922540
NM_000497.3(CYP11B1):c.427C>T (p.Arg143Trp) rs140336749
NM_000497.3(CYP11B1):c.45G>A (p.Trp15Ter) rs1554653714
NM_000497.3(CYP11B1):c.55C>T (p.Gln19Ter) rs763195324
NM_000497.3(CYP11B1):c.595+1G>A rs1264073726
NM_000497.3(CYP11B1):c.799+1G>C rs1554652990
NM_000497.3(CYP11B1):c.799+2T>C rs193922541
NM_000497.3(CYP11B1):c.841_842ins11 (p.?) rs775128501
NM_000497.3(CYP11B1):c.896T>C (p.Leu299Pro) rs387907573
NM_000497.3(CYP11B1):c.917C>T (p.Ala306Val) rs387907572
NM_000497.3(CYP11B1):c.953C>G (p.Thr318Arg) rs104894061
NM_000497.3(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000497.3(CYP11B1):c.955-1G>A rs1456715954
NM_000497.3(CYP11B1):c.992C>T (p.Ala331Val) rs1326688256
NM_000500.7(CYP21A2):c.1118G>A (p.Ser373Asn) rs1554305880
NM_000500.7(CYP21A2):c.1136T>A (p.Ile379Asn) rs1429901248
NM_000500.7(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.7(CYP21A2):c.158_159delCT (p.Gln54Glufs) rs886038207
NM_000500.7(CYP21A2):c.274A>G (p.Arg92Gly) rs1554304513
NM_000500.7:c.*28699080dupT
NM_000516.5(GNAS):c.601C>T (p.Arg201Cys) rs11554273
NM_000516.5(GNAS):c.602G>A (p.Arg201His) rs121913495
NM_000516.5(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000529.2(MC2R):c.437G>A (p.Arg146His)
NM_000546.5(TP53):c.-202_-29+?del
NM_000546.5(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.5(TP53):c.1060C>T (p.Gln354Ter) rs755394212
NM_000546.5(TP53):c.267delC (p.Ser90Profs) rs587783062
NM_000546.5(TP53):c.283_375+21del114 rs1555526462
NM_000546.5(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.5(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.5(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.375+2T>A rs1555526469
NM_000546.5(TP53):c.375+2T>C rs1555526469
NM_000546.5(TP53):c.375G>T (p.Thr125=) rs55863639
NM_000546.5(TP53):c.376-2A>G rs786202799
NM_000546.5(TP53):c.376-2A>T rs786202799
NM_000546.5(TP53):c.378C>G (p.Tyr126Ter)
NM_000546.5(TP53):c.38dup (p.Leu14Serfs) rs1555527002
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_000546.5(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.5(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.5(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.5(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.5(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.5(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.5(TP53):c.412G>C (p.Ala138Pro) rs28934875
NM_000546.5(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.5(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.5(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.5(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.5(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.5(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.5(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.5(TP53):c.532C>G (p.His178Asp) rs1064795203
NM_000546.5(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_000546.5(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.5(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.5(TP53):c.560-4_560-2delTTA rs1060501212
NM_000546.5(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.5(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.5(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.5(TP53):c.672+2T>A rs1555525703
NM_000546.5(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_000546.5(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.718A>G (p.Ser240Gly)
NM_000546.5(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.5(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.5(TP53):c.764_766delTCA (p.Ile255del) rs1064794309
NM_000546.5(TP53):c.77_80delTTCCinsAAGAACGT (p.Leu26Glnfs) rs397516438
NM_000546.5(TP53):c.782+1G>T rs1555525429
NM_000546.5(TP53):c.782+2_782+6delTCAGG
NM_000546.5(TP53):c.783-1G>A rs1555525367
NM_000546.5(TP53):c.783-2A>G rs1060501207
NM_000546.5(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.5(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.5(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000546.5(TP53):c.920-1G>C rs587781702
NM_000546.5(TP53):c.920-2A>G rs397516439
NM_000546.5(TP53):c.993G>A (p.Gln331=) rs11575996
NM_000551.3(VHL):c.-75_-55del rs727503744
NM_000551.3(VHL):c.189dup (p.Arg64Alafs) rs1553619402
NM_000551.3(VHL):c.192delC (p.Ser65Argfs) rs730882031
NM_000551.3(VHL):c.193T>G (p.Ser65Ala) rs869025616
NM_000551.3(VHL):c.214T>C (p.Ser72Pro) rs869025618
NM_000551.3(VHL):c.232A>T (p.Asn78Tyr) rs869025621
NM_000551.3(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.3(VHL):c.242C>T (p.Pro81Leu) rs193922608
NM_000551.3(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.3(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.3(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.3(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.3(VHL):c.269A>T (p.Asn90Ile) rs143985153
NM_000551.3(VHL):c.277G>C (p.Gly93Arg) rs5030808
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.3(VHL):c.311_340+20del rs869025629
NM_000551.3(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.3(VHL):c.320G>A (p.Arg107His) rs193922609
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.333C>G (p.Ser111Arg) rs765978945
NM_000551.3(VHL):c.336C>G (p.Tyr112Ter)
NM_000551.3(VHL):c.340+1G>C rs730882032
NM_000551.3(VHL):c.341-25_370dup rs1553619923
NM_000551.3(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.3(VHL):c.370A>G (p.Thr124Ala)
NM_000551.3(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000551.3(VHL):c.381_382delGCinsTT (p.Leu128Phe) rs869025645
NM_000551.3(VHL):c.392A>G (p.Asn131Ser) rs1553619963
NM_000551.3(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.3(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.3(VHL):c.419_427delTCAATGTTGinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn)
NM_000551.3(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.3(VHL):c.458T>A (p.Leu153Gln) rs193922611
NM_000551.3(VHL):c.463+2T>G rs5030814
NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.3(VHL):c.471dupT (p.Leu158Serfs) rs869025661
NM_000551.3(VHL):c.479A>T (p.Glu160Val) rs864321641
NM_000551.3(VHL):c.486C>A (p.Cys162Ter) rs5030622
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.3(VHL):c.492G>T (p.Gln164His) rs1352275281
NM_000551.3(VHL):c.496_506del11 (p.Val166Serfs) rs869025663
NM_000551.3(VHL):c.499C>G (p.Arg167Gly) rs5030820
NM_000551.3(VHL):c.500G>C (p.Arg167Pro) rs5030821
NM_000551.3(VHL):c.509T>C (p.Val170Ala) rs864321642
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.3(VHL):c.548C>G (p.Ser183Trp) rs5030823
NM_000551.3(VHL):c.563T>A (p.Leu188Gln)
NM_000551.3(VHL):c.563T>C (p.Leu188Pro)
NM_000551.3(VHL):c.587_590dupAAGA (p.Asp197Glufs) rs869025666
NM_000551.3(VHL):c.588dupA (p.Asp197Argfs) rs864321640
NM_000551.3(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.3(VHL):c.641G>T (p.Ter214Leu) rs869025668
NM_000551.3(VHL):c.642A>G (p.Ter214Trp)
NM_000551.3(VHL):c.642A>T (p.Ter214Cys)
NM_000551.3:c.547delT
NM_000551.3:c.565delG
NM_000720.3(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_000781.2(CYP11A1):c.968T>A (p.Met323Lys) rs886041121
NM_000941.2(POR):c.1370G>A (p.Arg457His) rs28931608
NM_000941.2(POR):c.188+2T>C
NM_000941.2:c.1363delC
NM_001077196.1(PDE11A):c.479C>G (p.Ser160Ter) rs771254375
NM_001077196.1(PDE11A):c.936_940delGTCCT (p.Ser313Glnfs) rs769235876
NM_001077197.1(PDE11A):c.20_21delGA (p.Arg7Thrfs) rs202117698
NM_001077197.1(PDE11A):c.235C>T (p.Arg79Ter) rs188985665
NM_001126112.2(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_001126112.2(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_001126112.2(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_001126112.2(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_001126112.2(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_001126113.2(TP53):c.741_742delCCinsTT (p.Arg248Trp) rs1555525498
NM_001126114.2(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_001126114.2(TP53):c.701A>C (p.Tyr234Ser) rs587780073
NM_001126115.1(TP53):c.401G>A (p.Gly134Glu) rs193920774
NM_001126116.1(TP53):c.7T>C (p.Cys3Arg) rs1057519975
NM_001126118.1(TP53):c.258+1dup rs1555526470
NM_001126118.1(TP53):c.286T>A (p.Cys96Ser) rs1057519975
NM_001166120.1(HSD3B2):c.1064G>A (p.Trp355Ter) rs767128094
NM_001276761.1(TP53):c.625C>G (p.Arg209Gly) rs121912651
NM_001904.3(CTNNB1):c.100G>C (p.Gly34Arg) rs121913399
NM_001904.3(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.3(CTNNB1):c.101G>C (p.Gly34Ala) rs28931589
NM_001904.3(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.3(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.3(CTNNB1):c.122C>A (p.Thr41Asn) rs121913413
NM_001904.3(CTNNB1):c.122C>T (p.Thr41Ile) rs121913413
NM_001904.3(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.3(CTNNB1):c.134C>A (p.Ser45Tyr) rs121913409
NM_001904.3(CTNNB1):c.134C>G (p.Ser45Cys) rs121913409
NM_001904.3(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_002107.4(H3-3A):c.100G>C (p.Gly34Arg) rs1057519902
NM_002524.3(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.3(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.3(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.4(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.4(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002734.4(PRKAR1A):c.1003C>T (p.Arg335Cys) rs1555815121
NM_002734.4(PRKAR1A):c.892-26_905del
NM_003000.2(SDHB):c.131_139delTCTATCGAT (p.Ile44_Trp47delinsArg) rs864321639
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.137G>T (p.Arg46Leu) rs772551056
NM_003000.2(SDHB):c.143A>T (p.Asp48Val) rs202101384
NM_003000.2(SDHB):c.1A>T (p.Met1Leu) rs1131691049
NM_003000.2(SDHB):c.201-2A>C rs878854574
NM_003000.2(SDHB):c.201-?_765+?dup
NM_003000.2(SDHB):c.227T>G (p.Leu76Ter) rs864321638
NM_003000.2(SDHB):c.251A>C (p.Asp84Ala) rs864321637
NM_003000.2(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.2(SDHB):c.286+2T>A rs587781270
NM_003000.2(SDHB):c.286G>A (p.Gly96Ser) rs587782243
NM_003000.2(SDHB):c.287-1G>C rs397516833
NM_003000.2(SDHB):c.287-3C>G rs1553177772
NM_003000.2(SDHB):c.287G>A (p.Gly96Asp) rs778952116
NM_003000.2(SDHB):c.296G>A (p.Gly99Asp) rs878854576
NM_003000.2(SDHB):c.338G>C (p.Cys113Ser) rs864321636
NM_003000.2(SDHB):c.348_352del (p.Ile117Hisfs) rs1480267715
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003000.2(SDHB):c.3G>A (p.Met1Ile) rs1131691061
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003000.2(SDHB):c.445_446insTATGG (p.Gln149Leufs) rs1553177688
NM_003000.2(SDHB):c.540+1G>A rs1553177667
NM_003000.2(SDHB):c.540G>A (p.Leu180=) rs528442805
NM_003000.2(SDHB):c.540_540+13delGGTCATTAGTCCCT rs1553177666
NM_003000.2(SDHB):c.566G>T (p.Cys189Phe) rs876658540
NM_003000.2(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.2(SDHB):c.575G>A (p.Cys192Tyr) rs397516835
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.2(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003000.2(SDHB):c.649C>T (p.Arg217Cys) rs200245469
NM_003000.2(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229Alafs) rs1209914140
NM_003000.2(SDHB):c.717dupT (p.Leu240Serfs) rs1060503764
NM_003000.2(SDHB):c.724C>A (p.Arg242Ser) rs786203251
NM_003000.2(SDHB):c.73-1G>T
NM_003000.2(SDHB):c.780dup (p.Lys261Glufs)
NM_003000.2(SDHB):c.784_787dupGCTA (p.Ile263Serfs) rs1553176976
NM_003000.2(SDHB):c.785_786insG (p.Ile263Tyrfs) rs1553176979
NM_003001.3(SDHC):c.148C>T (p.Arg50Cys) rs587778661
NM_003001.3(SDHC):c.21-3_22delCAGAC rs1553261757
NM_003001.3(SDHC):c.405+1G>A rs587776653
NM_003001.3(SDHC):c.405+1G>C rs587776653
NM_003001.3(SDHC):c.405+1G>T rs587776653
NM_003001.3(SDHC):c.405+1delG
NM_003001.3(SDHC):c.78-1G>T rs786202200
NM_003002.2(SDHD):c.53dupC (p.Leu19Serfs) rs886041237
NM_003002.3(SDHD):c.*(?_286)_*(387_?)del
NM_003002.3(SDHD):c.18_21delGCTG (p.Leu7Valfs) rs1555186662
NM_003002.3(SDHD):c.298_301delACTC (p.Thr100Phefs) rs786203067
NM_003002.3(SDHD):c.298delA (p.Thr100Leufs) rs1555187067
NM_003002.3(SDHD):c.305A>T (p.His102Leu) rs104894302
NM_003002.3(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.3(SDHD):c.386delT rs864321644
NM_003002.3(SDHD):c.394delT (p.Ser132Glnfs) rs1060503773
NM_003002.3(SDHD):c.53-1_53delGCinsTT
NM_004168.3(SDHA):c.1064+2T>A rs1553999072
NM_004168.3(SDHA):c.1432+1G>C rs878854628
NM_004168.3(SDHA):c.1432_1432+1delGG rs878854627
NM_004168.3(SDHA):c.150+1G>A rs1057523165
NM_004168.3(SDHA):c.1534C>T (p.Arg512Ter) rs748089700
NM_004168.3(SDHA):c.1663+1G>T rs766667009
NM_004168.3(SDHA):c.1A>G (p.Met1Val) rs1061517
NM_004168.3(SDHA):c.1A>T (p.Met1Leu) rs1061517
NM_004168.3(SDHA):c.210dup (p.Gly71Argfs) rs1553997340
NM_004168.3(SDHA):c.2T>A (p.Met1Lys)
NM_004168.3(SDHA):c.2T>C (p.Met1Thr) rs750380279
NM_004168.3(SDHA):c.2T>G (p.Met1Arg) rs750380279
NM_004168.3(SDHA):c.457-2_457delAGC rs878854632
NM_004168.3(SDHA):c.622-1G>A rs1285132774
NM_004168.3(SDHA):c.757_758delGT (p.Val253Cysfs) rs1553998254
NM_004168.3(SDHA):c.762_770+17del26 rs1041809852
NM_004333.4(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.4(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.4(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004813.2(PEX16):c.995_997delTCT (p.Phe332del) rs797045062
NM_006218.3(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.3(PIK3CA):c.3141T>G (p.His1047Gln) rs1057519932
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967
NM_007194.3(CHEK2):c.1259+1G>A rs121908707
NM_007194.3(CHEK2):c.1434delA (p.Glu479Lysfs) rs786202601
NM_007194.4(CHEK2):c.319+2T>A rs587782401
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_015665.5(AAAS):c.1144_1147delTCTG (p.Ser382Argfs) rs770214071
NM_015665.5(AAAS):c.787T>C (p.Ser263Pro) rs121918550
NM_017841.2(SDHAF2):c.260+1G>A rs749527870
NM_017849.3(TMEM127):c.-18C>T rs121908813
NM_017849.3(TMEM127):c.117_120delGTCT (p.Ile41Argfs) rs121908816
NM_017849.3(TMEM127):c.149_150insA (p.Pro51Alafs) rs121908817
NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) rs121908818
NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) rs121908819
NM_017849.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_017849.3(TMEM127):c.245-1G>T rs121908821
NM_017849.3(TMEM127):c.265_268delACAG (p.Thr89Cysfs) rs121908822
NM_017849.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_017849.3(TMEM127):c.280C>T (p.Arg94Trp) rs121908824
NM_017849.3(TMEM127):c.308del (p.Gly103Alafs) rs727503490
NM_017849.3(TMEM127):c.3G>T (p.Met1Ile) rs121908814
NM_017849.3(TMEM127):c.409+1G>T rs121908825
NM_017849.3(TMEM127):c.410-2A>C rs121908826
NM_017849.3(TMEM127):c.410-2A>G rs121908826
NM_017849.3(TMEM127):c.418T>C (p.Cys140Arg) rs121908827
NM_017849.3(TMEM127):c.419G>A (p.Cys140Tyr) rs121908828
NM_017849.3(TMEM127):c.447G>A (p.Trp149Ter) rs121908829
NM_017849.3(TMEM127):c.475C>T (p.Gln159Ter) rs121908830
NM_017849.3(TMEM127):c.627_640dup (p.Met214Serfs) rs121908831
NM_017849.3(TMEM127):c.76C>T (p.Gln26Ter) rs121908815
NM_020630.4(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.4(RET):c.1826G>A (p.Cys609Tyr) rs77939446
NM_020975.4(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.4(RET):c.1853G>A (p.Cys618Tyr) rs79781594
NM_020975.4(RET):c.1888T>C (p.Cys630Arg) rs377767404
NM_020975.4(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.4(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.4(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.4(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.4(RET):c.2304G>T (p.Glu768Asp) rs78014899
NM_020975.4(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.4(RET):c.2410G>A (p.Val804Met) rs79658334
NM_020975.4(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020975.4(RET):c.2647_2648delGCinsTT (p.Ala883Phe) rs377767429
NM_020975.4(RET):c.2671T>G (p.Ser891Ala) rs75234356
NM_020975.4(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.5(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.5(RET):c.1900T>C (p.Cys634Arg) rs75076352
NM_080425.3(GNAS):c.3072_3074CAT[1] (p.Ile1026del)
NM_130799.2(MEN1):c.1117C>T (p.Pro373Ser)
NM_130799.2(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_130799.2(MEN1):c.1328C>A (p.Ser443Tyr) rs1060499981
NM_130799.2(MEN1):c.1350+2T>C rs1555164115
NM_130799.2(MEN1):c.1351-1G>A rs794728629
NM_130799.2(MEN1):c.1351-1G>C rs794728629
NM_130799.2(MEN1):c.1351-2A>G rs1060499986
NM_130799.2(MEN1):c.1660C>T (p.Gln554Ter) rs794728631
NM_130799.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_130799.2(MEN1):c.1739delC (p.Thr580Argfs) rs864622617
NM_130799.2(MEN1):c.1A>T (p.Met1Leu) rs386134250
NM_130799.2(MEN1):c.35C>T (p.Pro12Leu) rs794728614
NM_130799.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_130799.2(MEN1):c.446-2A>G rs886042035
NM_130799.2(MEN1):c.526G>C (p.Ala176Pro) rs376872829
NM_130799.2(MEN1):c.762_768dup (p.Leu257Glyfs) rs1555165488
NM_130799.2(MEN1):c.851C>A (p.Ala284Glu)
NM_130799.2(MEN1):c.912+1G>C rs398124437
NM_153818.1(PEX10):c.113-1G>A rs867305222
NM_153818.1(PEX10):c.1A>G (p.Met1Val) rs886041314
NM_153818.1(PEX10):c.20delG (p.Ser7Thrfs) rs1553232926
NM_153818.1(PEX10):c.26delC (p.Pro9Argfs) rs1553232917
NM_153818.1(PEX10):c.352C>T (p.Gln118Ter) rs369965266
NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) rs61750434
NM_153818.1(PEX10):c.4delG (p.Ala2Profs) rs62636524
NM_153818.1(PEX10):c.600+1delG rs1553232077
NM_153818.1(PEX10):c.623_624delTC (p.Leu208Glnfs) rs1553231896
NM_153818.1(PEX10):c.635_636delTGinsCTC (p.Met212Thrfs) rs1553231888
NM_153818.1(PEX10):c.637_638delAG (p.Ser213Cysfs) rs1553231875
NM_153818.1(PEX10):c.752_763del12 (p.Ser251_Arg346del) rs768893724
NM_153818.1(PEX10):c.815_816delAC (p.His272Profs) rs1325771720
NM_153818.1(PEX10):c.821delG (p.Gly274Alafs) rs1553231820
NM_153818.1(PEX10):c.836+2T>A rs1335685844
NM_153818.1(PEX10):c.836+2T>C rs1335685844
NM_153818.1(PEX10):c.850G>T (p.Glu284Ter) rs769251149
NM_153818.1(PEX10):c.855_856delAG (p.Arg285Serfs) rs1553231787
NM_153818.1(PEX10):c.875delT (p.Leu292Argfs) rs1553231783
NM_153818.1(PEX10):c.972+1G>A rs1553231739
NM_153818.1(PEX10):c.972+1G>C rs1553231739
p.X214Trp

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