ClinVar Miner

List of variants reported as likely pathogenic by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 827
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HGVS dbSNP
NM_000027.3(AGA):c.807_940del134 rs386833437
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer) rs386833417
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala43_Trp44insAspAla) rs386833418
NM_000027.4(AGA):c.192T>A (p.Cys64Ter) rs386833419
NM_000027.4(AGA):c.194_195AG[3] (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.299G>A (p.Gly100Glu) rs386833421
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000027.4(AGA):c.346C>T (p.Arg116Trp) rs386833423
NM_000027.4(AGA):c.367_368AC[3] (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.369_373del (p.His124fs) rs386833424
NM_000027.4(AGA):c.395-8A>G rs386833426
NM_000027.4(AGA):c.404T>C (p.Phe135Ser) rs386833427
NM_000027.4(AGA):c.439T>C (p.Ser147Pro) rs386833428
NM_000027.4(AGA):c.44T>G (p.Leu15Arg) rs386833429
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431
NM_000027.4(AGA):c.754G>C (p.Gly252Arg) rs386833432
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000027.4(AGA):c.770C>T (p.Thr257Ile) rs386833434
NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer) rs386833435
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436
NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.1048del (p.Leu350fs) rs386833696
NM_000086.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697
NM_000086.2(CLN3):c.1056+3A>C rs386833698
NM_000086.2(CLN3):c.1056G>C (p.Gln352His) rs386833699
NM_000086.2(CLN3):c.105G>A (p.Trp35Ter) rs386833700
NM_000086.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_000086.2(CLN3):c.1198-1G>T rs386833702
NM_000086.2(CLN3):c.1247A>G (p.Asp416Gly) rs386833703
NM_000086.2(CLN3):c.125+5G>A rs386833704
NM_000086.2(CLN3):c.126-1G>A rs386833705
NM_000086.2(CLN3):c.1268C>A (p.Ser423Ter) rs386833706
NM_000086.2(CLN3):c.1272del (p.Leu425fs) rs386833707
NM_000086.2(CLN3):c.1A>C (p.Met1Leu) rs386833708
NM_000086.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709
NM_000086.2(CLN3):c.222+2T>G rs386833710
NM_000086.2(CLN3):c.222+5G>C rs386833711
NM_000086.2(CLN3):c.233dup (p.Thr80fs) rs386833712
NM_000086.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_000086.2(CLN3):c.302T>C (p.Leu101Pro) rs386833714
NM_000086.2(CLN3):c.370dup (p.Tyr124fs) rs386833715
NM_000086.2(CLN3):c.374G>A (p.Ser125Asn) rs386833716
NM_000086.2(CLN3):c.378_379dup (p.Arg127fs) rs386833717
NM_000086.2(CLN3):c.379del (p.Arg127fs) rs386833717
NM_000086.2(CLN3):c.400T>C (p.Cys134Arg) rs386833719
NM_000086.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_000086.2(CLN3):c.461-13G>C rs386833721
NM_000086.2(CLN3):c.461-1G>A rs386833722
NM_000086.2(CLN3):c.461-1G>C rs386833722
NM_000086.2(CLN3):c.472G>C (p.Ala158Pro) rs386833723
NM_000086.2(CLN3):c.482C>G (p.Ser161Ter) rs386833724
NM_000086.2(CLN3):c.485C>G (p.Ser162Ter) rs386833725
NM_000086.2(CLN3):c.49G>T (p.Glu17Ter) rs386833726
NM_000086.2(CLN3):c.509T>C (p.Leu170Pro) rs386833727
NM_000086.2(CLN3):c.533+1G>A rs386833728
NM_000086.2(CLN3):c.533+1G>C rs386833728
NM_000086.2(CLN3):c.558_559del (p.Gly187fs) rs386833729
NM_000086.2(CLN3):c.560G>C (p.Gly187Ala) rs386833730
NM_000086.2(CLN3):c.565G>C (p.Gly189Arg) rs386833731
NM_000086.2(CLN3):c.569del (p.Gly190fs) rs386833732
NM_000086.2(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_000086.2(CLN3):c.582G>T (p.Leu194=) rs386833734
NM_000086.2(CLN3):c.586dup (p.Ala196fs) rs386833735
NM_000086.2(CLN3):c.622dup (p.Ser208fs) rs386833736
NM_000086.2(CLN3):c.631C>T (p.Gln211Ter) rs386833737
NM_000086.2(CLN3):c.790+3A>C rs386833738
NM_000086.2(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_000086.2(CLN3):c.906+5G>A rs386833739
NM_000086.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_000086.2(CLN3):c.954_962+18del rs386833741
NM_000086.2(CLN3):c.963-1G>T rs386833742
NM_000086.2(CLN3):c.979C>T (p.Gln327Ter) rs386833743
NM_000086.2(CLN3):c.988G>T (p.Val330Phe) rs386833744
NM_000100.3(CSTB):c.125C>A (p.Ser42Ter) rs386833439
NM_000100.3(CSTB):c.168G>A (p.Lys56=) rs386833440
NM_000100.3(CSTB):c.169-2A>G rs386833441
NM_000100.3(CSTB):c.214_215TC[2] (p.Leu73fs) rs796943858
NM_000100.3(CSTB):c.66G>A (p.Gln22=) rs386833443
NM_000111.2(SLC26A3):c.1028G>A (p.Cys343Tyr) rs386833444
NM_000111.2(SLC26A3):c.1030_1047delinsGATGCC (p.Phe344_Val349delinsAspAla) rs386833445
NM_000111.2(SLC26A3):c.1136G>C (p.Gly379Ala) rs386833446
NM_000111.2(SLC26A3):c.1148_1149del (p.Ile383fs) rs386833447
NM_000111.2(SLC26A3):c.1306C>T (p.Gln436Ter) rs386833448
NM_000111.2(SLC26A3):c.1312-1G>A rs386833449
NM_000111.2(SLC26A3):c.1342_1343del (p.Leu448fs) rs386833450
NM_000111.2(SLC26A3):c.1360C>T (p.Gln454Ter) rs386833451
NM_000111.2(SLC26A3):c.1362del (p.Gln454fs) rs386833452
NM_000111.2(SLC26A3):c.1387C>T (p.Arg463Ter) rs386833453
NM_000111.2(SLC26A3):c.1403A>T (p.Asp468Val) rs386833454
NM_000111.2(SLC26A3):c.1408-1G>A rs386833455
NM_000111.2(SLC26A3):c.145_157del (p.Lys49fs) rs386833456
NM_000111.2(SLC26A3):c.1487T>G (p.Leu496Arg) rs386833457
NM_000111.2(SLC26A3):c.1515-2del rs386833458
NM_000111.2(SLC26A3):c.1517del (p.Pro506fs) rs386833459
NM_000111.2(SLC26A3):c.1526_1527del (p.Ser509fs) rs386833460
NM_000111.2(SLC26A3):c.1551_1554del (p.Asn518fs) rs386833461
NM_000111.2(SLC26A3):c.1559A>G (p.Tyr520Cys) rs386833462
NM_000111.2(SLC26A3):c.1563G>C (p.Lys521Asn) rs386833463
NM_000111.2(SLC26A3):c.1576_1578TAT[1] (p.Tyr527del) rs386833464
NM_000111.2(SLC26A3):c.1609del (p.Ile537fs) rs386833465
NM_000111.2(SLC26A3):c.1624_1626delinsC (p.Ser542fs) rs386833466
NM_000111.2(SLC26A3):c.1631T>A (p.Ile544Asn) rs386833467
NM_000111.2(SLC26A3):c.177dup (p.Ile60fs) rs386833468
NM_000111.2(SLC26A3):c.1990del (p.Ser663_Val664insTer) rs386833469
NM_000111.2(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000111.2(SLC26A3):c.2063-1G>T rs386833471
NM_000111.2(SLC26A3):c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT (p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe) rs386833472
NM_000111.2(SLC26A3):c.2116del (p.Ser706fs) rs386833473
NM_000111.2(SLC26A3):c.2132T>G (p.Leu711Ter) rs386833474
NM_000111.2(SLC26A3):c.2205+3A>G rs386833475
NM_000111.2(SLC26A3):c.269_270dup (p.Gly91fs) rs386833476
NM_000111.2(SLC26A3):c.332del (p.Phe111fs) rs386833477
NM_000111.2(SLC26A3):c.344del (p.Ile115fs) rs386833478
NM_000111.2(SLC26A3):c.358G>A (p.Gly120Ser) rs386833479
NM_000111.2(SLC26A3):c.386C>T (p.Pro129Leu) rs386833480
NM_000111.2(SLC26A3):c.392C>G (p.Pro131Arg) rs386833481
NM_000111.2(SLC26A3):c.392C>T (p.Pro131Leu) rs386833481
NM_000111.2(SLC26A3):c.392del (p.Pro131fs) rs386833482
NM_000111.2(SLC26A3):c.408G>A (p.Met136Ile) rs386833483
NM_000111.2(SLC26A3):c.525G>C (p.Arg175Ser) rs386833484
NM_000111.2(SLC26A3):c.571-1G>T rs386833485
NM_000111.2(SLC26A3):c.571-2A>G rs386833486
NM_000111.2(SLC26A3):c.610T>G (p.Tyr204Asp) rs386833487
NM_000111.2(SLC26A3):c.616T>C (p.Ser206Pro) rs386833488
NM_000111.2(SLC26A3):c.659A>C (p.His220Pro) rs386833489
NM_000111.2(SLC26A3):c.915C>A (p.Tyr305Ter) rs386833490
NM_000112.3(SLC26A2):c.1157C>T (p.Ala386Val) rs386833493
NM_000112.3(SLC26A2):c.1242_1245del (p.Asn415fs) rs386833494
NM_000112.3(SLC26A2):c.1394del (p.Leu465fs) rs386833495
NM_000112.3(SLC26A2):c.1451G>A (p.Gly484Asp) rs386833496
NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) rs386833497
NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.3(SLC26A2):c.1976del (p.Phe658_Leu659insTer) rs386833499
NM_000112.3(SLC26A2):c.1983del (p.Ala662fs) rs386833500
NM_000112.3(SLC26A2):c.2120_2121del (p.Leu707fs) rs386833501
NM_000112.3(SLC26A2):c.255del (p.Asn87fs) rs386833502
NM_000112.3(SLC26A2):c.331G>T (p.Asp111Tyr) rs386833503
NM_000112.3(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504
NM_000112.3(SLC26A2):c.47C>G (p.Ser16Ter) rs386833505
NM_000112.3(SLC26A2):c.496G>A (p.Gly166Arg) rs386833506
NM_000112.3(SLC26A2):c.55G>T (p.Gly19Ter) rs386833507
NM_000112.3(SLC26A2):c.700-1G>C rs200963884
NM_000112.3(SLC26A2):c.705_711del (p.Met236fs) rs386833508
NM_000112.3(SLC26A2):c.904_905CT[1] (p.Leu302_Cys303insTer) rs386833509
NM_000145.3(FSHR):c.1043C>G (p.Pro348Arg) rs386833510
NM_000145.3(FSHR):c.1724C>T (p.Ala575Val) rs386833511
NM_000145.3(FSHR):c.1760C>A (p.Pro587His) rs386833512
NM_000145.3(FSHR):c.1801C>G (p.Leu601Val) rs386833513
NM_000145.3(FSHR):c.662T>G (p.Val221Gly) rs386833514
NM_000145.3(FSHR):c.671A>T (p.Asp224Val) rs386833515
NM_000170.2(GLDC):c.1002dup (p.Ala335fs) rs386833516
NM_000170.2(GLDC):c.1009C>T (p.Arg337Ter) rs386833517
NM_000170.2(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.2(GLDC):c.1111C>G (p.His371Asp) rs386833519
NM_000170.2(GLDC):c.1175del (p.Ala392fs) rs386833520
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.1285_1286insCAAA (p.Leu429fs) rs386833522
NM_000170.2(GLDC):c.1319T>A (p.Ile440Asn) rs386833523
NM_000170.2(GLDC):c.1382G>A (p.Arg461Gln) rs386833524
NM_000170.2(GLDC):c.1402-1G>C rs386833525
NM_000170.2(GLDC):c.1444dup (p.Asp482fs) rs386833526
NM_000170.2(GLDC):c.1595C>G (p.Thr532Arg) rs386833527
NM_000170.2(GLDC):c.1597A>T (p.Asn533Tyr) rs386833528
NM_000170.2(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000170.2(GLDC):c.176G>C (p.Arg59Thr) rs386833530
NM_000170.2(GLDC):c.1786C>T (p.Arg596Ter) rs386833531
NM_000170.2(GLDC):c.1822_1832del (p.Tyr608fs) rs386833532
NM_000170.2(GLDC):c.1832T>G (p.Val611Gly) rs386833533
NM_000170.2(GLDC):c.1926+1G>A rs386833534
NM_000170.2(GLDC):c.1931G>T (p.Cys644Phe) rs386833535
NM_000170.2(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.2(GLDC):c.1996C>T (p.Gln666Ter) rs386833537
NM_000170.2(GLDC):c.2080G>C (p.Ala694Pro) rs386833538
NM_000170.2(GLDC):c.2098C>G (p.Pro700Ala) rs386833539
NM_000170.2(GLDC):c.2105C>T (p.Thr702Ile) rs386833540
NM_000170.2(GLDC):c.2153_2155delinsTCCTGGTTTA (p.His718_Gln719delinsLeuLeuValTer) rs386833541
NM_000170.2(GLDC):c.2182G>C (p.Gly728Arg) rs386833542
NM_000170.2(GLDC):c.2186del (p.Ala729fs) rs386833543
NM_000170.2(GLDC):c.2196T>A (p.Asn732Lys) rs386833544
NM_000170.2(GLDC):c.2203-2A>G rs386833545
NM_000170.2(GLDC):c.2213_2214del (p.Cys738fs) rs386833546
NM_000170.2(GLDC):c.2258A>C (p.His753Pro) rs386833547
NM_000170.2(GLDC):c.2267_2269del (p.Phe756del) rs121964975
NM_000170.2(GLDC):c.2284G>A (p.Gly762Arg) rs386833550
NM_000170.2(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.2(GLDC):c.2306C>T (p.Pro769Leu) rs386833552
NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg) rs386833553
NM_000170.2(GLDC):c.2316-1G>A rs386833554
NM_000170.2(GLDC):c.2324A>G (p.His775Arg) rs386833555
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000170.2(GLDC):c.2414G>A (p.Trp805Ter) rs386833557
NM_000170.2(GLDC):c.2422del (p.Ser808fs) rs386833558
NM_000170.2(GLDC):c.245T>G (p.Leu82Trp) rs386833559
NM_000170.2(GLDC):c.2489C>T (p.Thr830Met) rs386833560
NM_000170.2(GLDC):c.2519T>A (p.Met840Lys) rs386833561
NM_000170.2(GLDC):c.2521G>C (p.Ala841Pro) rs386833562
NM_000170.2(GLDC):c.255+1G>A rs386833563
NM_000170.2(GLDC):c.2574T>G (p.Tyr858Ter) rs386833564
NM_000170.2(GLDC):c.2607C>A (p.Pro869=) rs386833565
NM_000170.2(GLDC):c.2639A>T (p.Asp880Val) rs386833566
NM_000170.2(GLDC):c.2656C>T (p.Gln886Ter) rs386833567
NM_000170.2(GLDC):c.2838+5G>A rs386833568
NM_000170.2(GLDC):c.2839-1G>C rs386833569
NM_000170.2(GLDC):c.2846C>T (p.Pro949Leu) rs386833570
NM_000170.2(GLDC):c.2869T>C (p.Ser957Pro) rs386833571
NM_000170.2(GLDC):c.2891dup (p.Tyr964Ter) rs386833572
NM_000170.2(GLDC):c.2896A>G (p.Arg966Gly) rs386833573
NM_000170.2(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.2(GLDC):c.2919+1G>A rs386833575
NM_000170.2(GLDC):c.395C>G (p.Ser132Trp) rs386833576
NM_000170.2(GLDC):c.413A>T (p.Tyr138Phe) rs386833577
NM_000170.2(GLDC):c.449A>C (p.Asn150Thr) rs386833578
NM_000170.2(GLDC):c.457G>T (p.Glu153Ter) rs386833579
NM_000170.2(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000170.2(GLDC):c.513G>C (p.Gly171=) rs386833581
NM_000170.2(GLDC):c.560C>A (p.Thr187Lys) rs386833582
NM_000170.2(GLDC):c.605C>T (p.Ala202Val) rs386833583
NM_000170.2(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.2(GLDC):c.706C>T (p.Arg236Ter) rs386833585
NM_000170.2(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.2(GLDC):c.806C>T (p.Thr269Met) rs386833587
NM_000170.2(GLDC):c.808G>T (p.Glu270Ter) rs386833588
NM_000170.2(GLDC):c.847G>C (p.Ala283Pro) rs386833589
NM_000170.2(GLDC):c.861+1G>T rs386833590
NM_000170.2(GLDC):c.887T>G (p.Leu296Arg) rs386833591
NM_000170.2(GLDC):c.937G>C (p.Ala313Pro) rs386833592
NM_000170.2(GLDC):c.985C>A (p.Pro329Thr) rs386833593
NM_000274.3(OAT):c.1031del (p.Asn344fs) rs386833594
NM_000274.3(OAT):c.1118G>A (p.Gly373Glu) rs386833595
NM_000274.3(OAT):c.1172G>A (p.Trp391Ter) rs386833596
NM_000274.3(OAT):c.1181G>A (p.Cys394Tyr) rs386833597
NM_000274.3(OAT):c.1250C>T (p.Pro417Leu) rs121965044
NM_000274.3(OAT):c.1307T>A (p.Ile436Asn) rs386833598
NM_000274.3(OAT):c.1311G>T (p.Leu437Phe) rs1800456
NM_000274.3(OAT):c.159del (p.His53fs) rs386833599
NM_000274.3(OAT):c.188_189AG[2] (p.Gly65fs) rs386833600
NM_000274.3(OAT):c.199+303C>G rs386833601
NM_000274.3(OAT):c.267C>A (p.Asn89Lys) rs386833602
NM_000274.3(OAT):c.272G>A (p.Gly91Glu) rs386833603
NM_000274.3(OAT):c.311A>G (p.Gln104Arg) rs386833604
NM_000274.3(OAT):c.362G>A (p.Gly121Asp) rs386833605
NM_000274.3(OAT):c.370_372GAG[1] (p.Glu125del) rs386833606
NM_000274.3(OAT):c.381dup (p.Thr128fs) rs386833607
NM_000274.3(OAT):c.425-2A>G rs386833608
NM_000274.3(OAT):c.425G>A (p.Gly142Glu) rs386833610
NM_000274.3(OAT):c.425_520del (p.Gly142_Ala173del) rs386833609
NM_000274.3(OAT):c.472_486del (p.Tyr158_Gly162del) rs386833611
NM_000274.3(OAT):c.533_537del (p.Phe177_Trp178insTer) rs386833612
NM_000274.3(OAT):c.542C>T (p.Thr181Met) rs386833613
NM_000274.3(OAT):c.583G>T (p.Asp195Tyr) rs386833614
NM_000274.3(OAT):c.698A>G (p.Gln233Arg) rs386833615
NM_000274.3(OAT):c.710G>A (p.Gly237Asp) rs386833616
NM_000274.3(OAT):c.748C>T (p.Arg250Ter) rs386833617
NM_000274.3(OAT):c.800C>T (p.Thr267Ile) rs386833618
NM_000274.3(OAT):c.901-2A>G rs386833619
NM_000274.3(OAT):c.952G>A (p.Glu318Lys) rs386833621
NM_000274.3(OAT):c.952del (p.Glu318fs) rs386833620
NM_000274.3(OAT):c.978T>A (p.Asn326Lys) rs386833622
NM_000274.3(OAT):c.991C>T (p.Arg331Ter) rs386833623
NM_000274.3(OAT):c.994G>A (p.Val332Met) rs121965047
NM_000310.3(PPT1):c.*526_*529delATCA rs386833624
NM_000310.3(PPT1):c.114G>A (p.Trp38Ter) rs386833626
NM_000310.3(PPT1):c.114G>T (p.Trp38Cys) rs386833626
NM_000310.3(PPT1):c.114del (p.Trp38fs) rs386833625
NM_000310.3(PPT1):c.117T>A (p.His39Gln) rs386833627
NM_000310.3(PPT1):c.124+1G>A rs386833628
NM_000310.3(PPT1):c.125-15T>G rs386833629
NM_000310.3(PPT1):c.125-2A>G rs386833630
NM_000310.3(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.3(PPT1):c.135_137dup (p.Cys46dup) rs386833632
NM_000310.3(PPT1):c.163A>T (p.Lys55Ter) rs386833633
NM_000310.3(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.3(PPT1):c.175del (p.Glu59fs) rs386833635
NM_000310.3(PPT1):c.235-3T>C rs386833636
NM_000310.3(PPT1):c.249_251CTT[2] (p.Phe85del) rs386833637
NM_000310.3(PPT1):c.271_287delinsTT (p.Gln91_Cys96delinsPhe) rs386833638
NM_000310.3(PPT1):c.272A>C (p.Gln91Pro) rs386833639
NM_000310.3(PPT1):c.287G>A (p.Cys96Tyr) rs386833640
NM_000310.3(PPT1):c.310A>T (p.Lys104Ter) rs386833641
NM_000310.3(PPT1):c.325T>G (p.Tyr109Asp) rs386833642
NM_000310.3(PPT1):c.363-3T>G rs386833643
NM_000310.3(PPT1):c.398del (p.Met133fs) rs386833644
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) rs386833646
NM_000310.3(PPT1):c.455G>A (p.Cys152Tyr) rs386833647
NM_000310.3(PPT1):c.456C>A (p.Cys152Ter) rs386833648
NM_000310.3(PPT1):c.490C>T (p.Arg164Ter) rs386833649
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.536+1G>A rs386833651
NM_000310.3(PPT1):c.536+2T>C rs386833652
NM_000310.3(PPT1):c.538dup (p.Leu180fs) rs386833653
NM_000310.3(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.3(PPT1):c.544C>T (p.Gln182Ter) rs386833654
NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) rs386833655
NM_000310.3(PPT1):c.558G>A (p.Trp186Ter) rs386833656
NM_000310.3(PPT1):c.560A>G (p.His187Arg) rs386833657
NM_000310.3(PPT1):c.566C>G (p.Pro189Arg) rs386833658
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000310.3(PPT1):c.644del (p.Tyr215fs) rs386833660
NM_000310.3(PPT1):c.665T>C (p.Leu222Pro) rs386833661
NM_000310.3(PPT1):c.674T>C (p.Phe225Ser) rs386833662
NM_000310.3(PPT1):c.683T>G (p.Val228Gly) rs386833663
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000310.3(PPT1):c.739T>C (p.Tyr247His) rs386833665
NM_000310.3(PPT1):c.749G>T (p.Gly250Val) rs386833666
NM_000310.3(PPT1):c.774dup (p.Gln259fs) rs386833667
NM_000310.3(PPT1):c.871C>T (p.Gln291Ter) rs386833668
NM_000310.3(PPT1):c.886T>C (p.Trp296Arg) rs386833669
NM_000310.3(PPT1):c.888G>A (p.Trp296Ter) rs386833670
NM_000310.3(PPT1):c.914T>C (p.Leu305Pro) rs386833671
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) rs386833673
NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr) rs386833674
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000481.3(AMT):c.-55C>T rs386833677
NM_000481.3(AMT):c.139G>T (p.Gly47Trp) rs121964982
NM_000481.3(AMT):c.148del (p.Val50fs) rs386833678
NM_000481.3(AMT):c.217C>T (p.Arg73Cys) rs386833679
NM_000481.3(AMT):c.230C>T (p.Ser77Leu) rs386833680
NM_000481.3(AMT):c.259-1G>C rs386833681
NM_000481.3(AMT):c.434A>T (p.Asn145Ile) rs386833682
NM_000481.3(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.3(AMT):c.471+2T>C rs386833684
NM_000481.3(AMT):c.535del (p.Leu179fs) rs386833685
NM_000481.3(AMT):c.59del (p.Pro20fs) rs386833686
NM_000481.3(AMT):c.61del (p.Ala21fs) rs386833687
NM_000481.3(AMT):c.63del (p.Leu22fs) rs386833688
NM_000481.3(AMT):c.674A>G (p.Tyr225Cys) rs386833689
NM_000481.3(AMT):c.887G>A (p.Arg296His) rs386833690
NM_000481.3(AMT):c.970_972del (p.Met324del) rs386833691
NM_000481.3(AMT):c.982_983delinsT (p.Ala328fs) rs386833692
NM_001005207.5(TRIM37):c.1037_1040dup (p.Met347fs) rs386833999
NM_001005207.5(TRIM37):c.1346dup (p.Ser450fs) rs386834000
NM_001005207.5(TRIM37):c.1411C>T (p.Arg471Ter) rs386834001
NM_001005207.5(TRIM37):c.1894_1895del (p.Glu632fs) rs386834002
NM_001005207.5(TRIM37):c.227T>C (p.Leu76Pro) rs386834004
NM_001005207.5(TRIM37):c.810-1G>A rs386834006
NM_001005207.5(TRIM37):c.838_842del (p.Thr280fs) rs386834007
NM_001005207.5(TRIM37):c.965G>T (p.Gly322Val) rs386834009
NM_001079866.2(BCS1L):c.-49-539T>A rs386833855
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_001079866.2(BCS1L):c.431G>A (p.Arg144Gln) rs386833857
NM_001079866.2(BCS1L):c.980T>C (p.Val327Ala) rs386833858
NM_001080522.2(CC2D2A):c.1339del (p.Ala447fs) rs386833745
NM_001080522.2(CC2D2A):c.1537T>A (p.Trp513Arg) rs386833746
NM_001080522.2(CC2D2A):c.2486+1G>C rs386833747
NM_001080522.2(CC2D2A):c.2773C>T (p.Arg925Ter) rs386833748
NM_001080522.2(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001080522.2(CC2D2A):c.3145C>G (p.Arg1049Gly) rs386833750
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752
NM_001080522.2(CC2D2A):c.3399-3C>A rs386833753
NM_001080522.2(CC2D2A):c.3522_3523insTG (p.His1175fs) rs386833754
NM_001080522.2(CC2D2A):c.3544T>C (p.Trp1182Arg) rs386833755
NM_001080522.2(CC2D2A):c.3584del (p.Phe1195fs) rs386833756
NM_001080522.2(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001080522.2(CC2D2A):c.3893T>A (p.Val1298Asp) rs386833758
NM_001080522.2(CC2D2A):c.3975+4_3975+7delAGTA rs386833759
NM_001080522.2(CC2D2A):c.4179+1delG rs386833760
NM_001080522.2(CC2D2A):c.4496+2T>A rs386833762
NM_001080522.2(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763
NM_001080522.2(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_001080522.2(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_001081.3(CUBN):c.1230+1G>A rs386833766
NM_001081.3(CUBN):c.1436C>G (p.Ser479Ter) rs386833767
NM_001081.3(CUBN):c.1526del (p.Gly509fs) rs386833768
NM_001081.3(CUBN):c.1530G>A (p.Lys510=) rs386833769
NM_001081.3(CUBN):c.1838del (p.Gly613fs) rs386833770
NM_001081.3(CUBN):c.1865del (p.Thr622fs) rs386833771
NM_001081.3(CUBN):c.1951C>T (p.Arg651Ter) rs182512508
NM_001081.3(CUBN):c.2068A>G (p.Ile690Val) rs386833772
NM_001081.3(CUBN):c.2486C>T (p.Ser829Leu) rs386833773
NM_001081.3(CUBN):c.250C>T (p.Gln84Ter) rs386833774
NM_001081.3(CUBN):c.2515_2533del (p.Glu839fs) rs386833775
NM_001081.3(CUBN):c.252+1G>A rs386833776
NM_001081.3(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.3(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.3(CUBN):c.2949C>A (p.Tyr983Ter) rs386833779
NM_001081.3(CUBN):c.3056C>G (p.Ser1019Ter) rs386833780
NM_001081.3(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781
NM_001081.3(CUBN):c.3330-439C>G rs386833782
NM_001081.3(CUBN):c.3577T>G (p.Trp1193Gly) rs386833783
NM_001081.3(CUBN):c.3749C>T (p.Ser1250Phe) rs386833784
NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430
NM_001081.3(CUBN):c.3999C>A (p.Cys1333Ter) rs386833785
NM_001081.3(CUBN):c.4115C>G (p.Thr1372Arg) rs386833786
NM_001081.3(CUBN):c.4168G>A (p.Gly1390Ser) rs386833787
NM_001081.3(CUBN):c.434G>A (p.Gly145Glu) rs386833788
NM_001081.3(CUBN):c.489G>A (p.Lys163=) rs386833789
NM_001081.3(CUBN):c.673T>A (p.Cys225Ser) rs386833790
NM_001081.3(CUBN):c.889C>T (p.Gln297Ter) rs386833791
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs) rs386833794
NM_001126105.2(SLC7A7):c.1013G>A (p.Gly338Asp) rs386833795
NM_001126105.2(SLC7A7):c.106_108del (p.Glu36del) rs386833796
NM_001126105.2(SLC7A7):c.1093A>T (p.Asn365Tyr) rs386833797
NM_001126105.2(SLC7A7):c.1147_1151dup (p.Tyr384Ter) rs386833798
NM_001126105.2(SLC7A7):c.1158C>A (p.Ser386Arg) rs386833799
NM_001126105.2(SLC7A7):c.1185_1188del (p.Ser396fs) rs386833800
NM_001126105.2(SLC7A7):c.1262del (p.Pro421fs) rs386833801
NM_001126105.2(SLC7A7):c.1273T>C (p.Cys425Arg) rs386833802
NM_001126105.2(SLC7A7):c.1344del (p.Ile449fs) rs386833803
NM_001126105.2(SLC7A7):c.1371C>A (p.Tyr457Ter) rs386833804
NM_001126105.2(SLC7A7):c.1381_1384dup (p.Arg462fs) rs386833805
NM_001126105.2(SLC7A7):c.1387del (p.Val463fs) rs386833806
NM_001126105.2(SLC7A7):c.1402C>T (p.Arg468Ter) rs386833807
NM_001126105.2(SLC7A7):c.1417C>T (p.Arg473Ter) rs386833808
NM_001126105.2(SLC7A7):c.1460del (p.Cys487fs) rs386833809
NM_001126105.2(SLC7A7):c.1465T>C (p.Ser489Pro) rs386833810
NM_001126105.2(SLC7A7):c.149T>A (p.Met50Lys) rs386833811
NM_001126105.2(SLC7A7):c.14C>T (p.Thr5Ile) rs386833792
NM_001126105.2(SLC7A7):c.158C>T (p.Ser53Leu) rs386833793
NM_001126105.2(SLC7A7):c.211_212CT[2] (p.Ser72fs) rs386833812
NM_001126105.2(SLC7A7):c.254_255del (p.Phe85fs) rs386833813
NM_001126105.2(SLC7A7):c.371T>C (p.Leu124Pro) rs386833814
NM_001126105.2(SLC7A7):c.418G>C (p.Ala140Pro) rs386833815
NM_001126105.2(SLC7A7):c.454T>C (p.Phe152Leu) rs386833816
NM_001126105.2(SLC7A7):c.499+1G>A rs386833817
NM_001126105.2(SLC7A7):c.545dup (p.Val183fs) rs386833818
NM_001126105.2(SLC7A7):c.563C>T (p.Thr188Ile) rs386833819
NM_001126105.2(SLC7A7):c.571A>G (p.Lys191Glu) rs386833820
NM_001126105.2(SLC7A7):c.622C>T (p.Gln208Ter) rs386833821
NM_001126105.2(SLC7A7):c.625+1G>A rs386833822
NM_001126105.2(SLC7A7):c.625+1G>C rs386833822
NM_001126105.2(SLC7A7):c.713C>T (p.Ser238Phe) rs386833823
NM_001126105.2(SLC7A7):c.753G>T (p.Glu251Asp) rs386833824
NM_001126105.2(SLC7A7):c.782T>C (p.Leu261Pro) rs386833825
NM_001126105.2(SLC7A7):c.820dup (p.Tyr274fs) rs386833826
NM_001126105.2(SLC7A7):c.894+1G>T rs386833827
NM_001126105.2(SLC7A7):c.895-2A>G rs146582474
NM_001126105.2(SLC7A7):c.998+1G>T rs386833828
NM_001126105.2(SLC7A7):c.998G>T (p.Arg333Met) rs386833829
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr) rs281864928
NM_002299.4(LCT):c.1692_1696del (p.Val565fs) rs386833832
NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser) rs386833833
NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter) rs386833834
NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter) rs386833835
NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs) rs386833836
NM_002299.4(LCT):c.5387del (p.Asp1796fs) rs386833837
NM_002299.4(LCT):c.649_650CT[2] (p.Ser218fs) rs386833838
NM_003332.3(TYROBP):c.116G>A (p.Ser39Asn) rs386833839
NM_003332.3(TYROBP):c.141delG (p.Met48TrpfsTer6) rs386833840
NM_003332.3(TYROBP):c.145G>C (p.Gly49Arg) rs386833841
NM_003332.3(TYROBP):c.262G>T (p.Glu88Ter) rs386833842
NM_004260.3(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844
NM_004260.3(RECQL4):c.1573del (p.Cys525fs) rs386833845
NM_004260.3(RECQL4):c.1885_1888del (p.Arg629fs) rs386833846
NM_004260.3(RECQL4):c.1887_1890del (p.Glu630fs) rs386833847
NM_004260.3(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848
NM_004260.3(RECQL4):c.2059-1G>A rs386833849
NM_004260.3(RECQL4):c.2091T>G (p.Phe697Leu) rs386833850
NM_004260.3(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851
NM_004260.3(RECQL4):c.3072del (p.Val1026fs) rs386833852
NM_004260.3(RECQL4):c.3214A>T (p.Arg1072Ter) rs386833853
NM_004260.3(RECQL4):c.3271C>T (p.Gln1091Ter) rs137853230
NM_004260.3(RECQL4):c.3599_3600del (p.Thr1200fs) rs386833854
NM_004483.4(GCSH):c.425-1G>T rs386833859
NM_004646.3(NPHS1):c.-475_-468delGAGAGAGA rs139954720
NM_004646.3(NPHS1):c.1019C>A (p.Pro340His) rs386833861
NM_004646.3(NPHS1):c.1040G>A (p.Gly347Glu) rs386833862
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_004646.3(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_004646.3(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865
NM_004646.3(NPHS1):c.1100G>A (p.Arg367His) rs200905486
NM_004646.3(NPHS1):c.1102C>T (p.Pro368Ser) rs386833866
NM_004646.3(NPHS1):c.1103C>T (p.Pro368Leu) rs386833867
NM_004646.3(NPHS1):c.1126C>G (p.Leu376Val) rs386833868
NM_004646.3(NPHS1):c.1134G>A (p.Trp378Ter) rs386833869
NM_004646.3(NPHS1):c.1135C>T (p.Arg379Trp) rs386833871
NM_004646.3(NPHS1):c.1135_1136del (p.Arg379fs) rs386833870
NM_004646.3(NPHS1):c.1138C>T (p.Gln380Ter) rs386833872
NM_004646.3(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874
NM_004646.3(NPHS1):c.1234G>T (p.Gly412Cys) rs142008044
NM_004646.3(NPHS1):c.1250G>T (p.Cys417Phe) rs386833875
NM_004646.3(NPHS1):c.1275del (p.Lys426fs) rs386833876
NM_004646.3(NPHS1):c.1292dup (p.Ser432fs) rs386833877
NM_004646.3(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.3(NPHS1):c.1337T>A (p.Ile446Asn) rs386833879
NM_004646.3(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880
NM_004646.3(NPHS1):c.1394G>A (p.Cys465Tyr) rs386833881
NM_004646.3(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.3(NPHS1):c.1481del (p.Ser494fs) rs386833883
NM_004646.3(NPHS1):c.1555C>T (p.Pro519Ser) rs386833884
NM_004646.3(NPHS1):c.1583G>T (p.Cys528Phe) rs386833885
NM_004646.3(NPHS1):c.1672C>T (p.Arg558Cys) rs386833886
NM_004646.3(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887
NM_004646.3(NPHS1):c.1707C>G (p.Ser569Arg) rs386833888
NM_004646.3(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889
NM_004646.3(NPHS1):c.1724C>A (p.Pro575Gln) rs386833890
NM_004646.3(NPHS1):c.1758-8_1785del rs386833891
NM_004646.3(NPHS1):c.1760T>G (p.Leu587Arg) rs386833892
NM_004646.3(NPHS1):c.1801G>C (p.Gly601Arg) rs386833893
NM_004646.3(NPHS1):c.1829T>A (p.Leu610Gln) rs386833894
NM_004646.3(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895
NM_004646.3(NPHS1):c.1905C>T (p.Ser635=) rs386833896
NM_004646.3(NPHS1):c.191G>C (p.Trp64Ser) rs386833897
NM_004646.3(NPHS1):c.1928T>C (p.Leu643Pro) rs386833898
NM_004646.3(NPHS1):c.1954C>T (p.Gln652Ter) rs386833899
NM_004646.3(NPHS1):c.2019C>A (p.Asn673Lys) rs191807913
NM_004646.3(NPHS1):c.2043G>T (p.Trp681Cys) rs386833900
NM_004646.3(NPHS1):c.2071+2T>C rs386833901
NM_004646.3(NPHS1):c.2072-6C>G rs200253809
NM_004646.3(NPHS1):c.2126T>G (p.Val709Gly) rs386833902
NM_004646.3(NPHS1):c.2156_2163del (p.Leu719fs) rs386833903
NM_004646.3(NPHS1):c.2160dup (p.Cys721fs) rs386833904
NM_004646.3(NPHS1):c.2171C>G (p.Ser724Cys) rs386833905
NM_004646.3(NPHS1):c.2172_2173del (p.Glu725fs) rs386833906
NM_004646.3(NPHS1):c.2216C>T (p.Ala739Val) rs386833907
NM_004646.3(NPHS1):c.2225T>C (p.Ile742Thr) rs386833908
NM_004646.3(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909
NM_004646.3(NPHS1):c.2227del (p.Arg743fs) rs386833910
NM_004646.3(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.3(NPHS1):c.2405G>C (p.Arg802Pro) rs114203578
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_004646.3(NPHS1):c.2442C>G (p.Tyr814Ter) rs386833913
NM_004646.3(NPHS1):c.248dup (p.Tyr83Ter) rs386833914
NM_004646.3(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915
NM_004646.3(NPHS1):c.2495T>C (p.Leu832Pro) rs386833916
NM_004646.3(NPHS1):c.2500G>T (p.Val834Phe) rs386833917
NM_004646.3(NPHS1):c.2515del (p.Gln839fs) rs386833918
NM_004646.3(NPHS1):c.2549_2558del (p.Ala850fs) rs386833919
NM_004646.3(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920
NM_004646.3(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.3(NPHS1):c.2618_2620delinsCC (p.Phe873fs) rs386833922
NM_004646.3(NPHS1):c.2625G>A (p.Trp875Ter) rs386833923
NM_004646.3(NPHS1):c.2664-4_2670del rs386833924
NM_004646.3(NPHS1):c.2770_2776del (p.Asn924fs) rs386833925
NM_004646.3(NPHS1):c.2783C>A (p.Ser928Ter) rs386833926
NM_004646.3(NPHS1):c.2815+5G>A rs386833927
NM_004646.3(NPHS1):c.2816-4_2822delATAGGCCGCCC rs386833928
NM_004646.3(NPHS1):c.286C>G (p.Leu96Val) rs386833929
NM_004646.3(NPHS1):c.2927+1G>A rs386833930
NM_004646.3(NPHS1):c.2944dup (p.Thr982fs) rs386833931
NM_004646.3(NPHS1):c.313G>A (p.Asp105Asn) rs386833932
NM_004646.3(NPHS1):c.319G>A (p.Ala107Thr) rs386833933
NM_004646.3(NPHS1):c.320C>T (p.Ala107Val) rs386833934
NM_004646.3(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.3(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.3(NPHS1):c.3356_3357dup (p.Thr1120fs) rs386833937
NM_004646.3(NPHS1):c.3388-2A>G rs386833938
NM_004646.3(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.3(NPHS1):c.3482G>T (p.Gly1161Val) rs386833939
NM_004646.3(NPHS1):c.3595-2A>G rs386833940
NM_004646.3(NPHS1):c.3720_*9del (p.Val1241fs) rs386833941
NM_004646.3(NPHS1):c.398-1G>A rs386833942
NM_004646.3(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.3(NPHS1):c.479G>C (p.Cys160Ser) rs386833944
NM_004646.3(NPHS1):c.500C>T (p.Pro167Leu) rs386833945
NM_004646.3(NPHS1):c.512T>A (p.Ile171Asn) rs386833946
NM_004646.3(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.3(NPHS1):c.516del (p.Ile173fs) rs386833948
NM_004646.3(NPHS1):c.518T>A (p.Ile173Asn) rs386833949
NM_004646.3(NPHS1):c.526+5G>C rs386833950
NM_004646.3(NPHS1):c.532C>T (p.Gln178Ter) rs386833951
NM_004646.3(NPHS1):c.534del (p.Thr179fs) rs386833952
NM_004646.3(NPHS1):c.574C>T (p.Gln192Ter) rs386833953
NM_004646.3(NPHS1):c.58+1G>T rs386833954
NM_004646.3(NPHS1):c.609-2A>C rs386833955
NM_004646.3(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004646.3(NPHS1):c.661_662del (p.Ser221fs) rs386833957
NM_004646.3(NPHS1):c.692C>A (p.Ser231Ter) rs386833958
NM_004646.3(NPHS1):c.736G>T (p.Glu246Ter) rs386833959
NM_004646.3(NPHS1):c.766C>T (p.Arg256Trp) rs386833960
NM_004646.3(NPHS1):c.808G>T (p.Gly270Cys) rs386833961
NM_004646.3(NPHS1):c.886G>A (p.Ala296Thr) rs386833962
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971
NM_006493.4(CLN5):c.339+5G>C rs202146713
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.380_381insA (p.Gly128fs) rs386833973
NM_006493.4(CLN5):c.418C>T (p.Gln140Ter) rs386833974
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) rs386833975
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) rs386833976
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006493.4(CLN5):c.473G>C (p.Trp158Ser) rs386833978
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp) rs386833981
NM_006493.4(CLN5):c.772del (p.Arg258fs) rs386833982
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.879C>A (p.Tyr293Ter) rs386833963
NM_006493.4(CLN5):c.922_923CT[1] (p.Leu309fs) rs386833964
NM_006493.4(CLN5):c.925_926del (p.Leu309fs) rs386833965
NM_006493.4(CLN5):c.936del (p.Phe312fs) rs386833966
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) rs386833968
NM_007035.3(KERA):c.1026del (p.Cys343fs) rs386833984
NM_007035.3(KERA):c.391A>G (p.Asn131Asp) rs386833985
NM_007035.3(KERA):c.835C>T (p.Arg279Ter) rs386833986
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs) rs386833987
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu) rs386833989
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990
NM_012434.5(SLC17A5):c.309G>A (p.Trp103Ter) rs386833991
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_012434.5(SLC17A5):c.95-1G>C rs386833995
NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu) rs386833996
NM_015243.2(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_015243.2(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_015243.2(VPS13B):c.1269_1273del (p.Cys425fs) rs386834072
NM_015243.2(VPS13B):c.1844-2A>G rs386834073
NM_015243.2(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_015243.2(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356
NM_015243.2(VPS13B):c.219_220delinsT (p.Lys73fs) rs386834075
NM_015243.2(VPS13B):c.22_23delinsA (p.Pro8fs) rs386834076
NM_015243.2(VPS13B):c.292-2A>G rs386834079
NM_015243.2(VPS13B):c.404dup (p.Leu135fs) rs386834083
NM_015243.2(VPS13B):c.463_466ATAA[1] (p.Asn156fs) rs386834090
NM_015243.2(VPS13B):c.626_627del (p.Thr209fs) rs386834100
NM_015243.2(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro) rs386833997
NM_015272.5(RPGRIP1L):c.723_726del (p.Asn241fs) rs386833998
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter) rs386834003
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter) rs386834005
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn) rs386834008
NM_015681.5(B9D1):c.341+2T>C rs143149764
NM_016499.5(TMEM216):c.158T>G (p.Leu53Arg) rs386833831
NM_016499.5(TMEM216):c.47G>C (p.Gly16Ala) rs386833830
NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.3(POMGNT1):c.1285-2A>G rs386834012
NM_017739.3(POMGNT1):c.1319T>G (p.Leu440Arg) rs386834013
NM_017739.3(POMGNT1):c.1340_1344CTGGG[2] (p.Trp451fs) rs386834015
NM_017739.3(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_017739.3(POMGNT1):c.1540-2A>G rs386834016
NM_017739.3(POMGNT1):c.1719del (p.His573fs) rs386834017
NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018
NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019
NM_017739.3(POMGNT1):c.1785+2T>G rs386834020
NM_017739.3(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.3(POMGNT1):c.1864del (p.Leu622fs) rs386834021
NM_017739.3(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017739.3(POMGNT1):c.1895+1G>A rs386834024
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017739.3(POMGNT1):c.1895+1_1895+4delGTGA rs386834023
NM_017739.3(POMGNT1):c.1896-1G>C rs386834025
NM_017739.3(POMGNT1):c.1928del (p.Phe643fs) rs386834026
NM_017739.3(POMGNT1):c.25dup (p.Leu9fs) rs386834027
NM_017739.3(POMGNT1):c.351del (p.Thr118fs) rs386834028
NM_017739.3(POMGNT1):c.447del (p.Phe149fs) rs386834029
NM_017739.3(POMGNT1):c.526A>C (p.Thr176Pro) rs386834030
NM_017739.3(POMGNT1):c.593del (p.Ser198fs) rs386834031
NM_017739.3(POMGNT1):c.594C>G (p.Ser198Arg) rs386834032
NM_017739.3(POMGNT1):c.630G>T (p.Trp210Cys) rs386834033
NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034
NM_017739.3(POMGNT1):c.652+1G>A rs386834035
NM_017739.3(POMGNT1):c.667G>A (p.Glu223Lys) rs386834036
NM_017739.3(POMGNT1):c.806G>A (p.Cys269Tyr) rs386834037
NM_017739.3(POMGNT1):c.879+5G>A rs386834038
NM_017739.3(POMGNT1):c.879+5G>T rs386834038
NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039
NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336
NM_017739.3(POMGNT1):c.982dup (p.Val328fs) rs386834040
NM_017777.3(MKS1):c.1024+1G>A rs199874059
NM_017777.3(MKS1):c.1048C>G (p.Gln350Glu) rs386834041
NM_017777.3(MKS1):c.1048C>T (p.Gln350Ter) rs386834041
NM_017777.3(MKS1):c.1407+2delT rs386834042
NM_017777.3(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.3(MKS1):c.1490G>A (p.Arg497Lys) rs386834045
NM_017777.3(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.3(MKS1):c.390_391CT[1] (p.Asp130_Ser131insTer) rs386834047
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.3(MKS1):c.424C>T (p.Gln142Ter) rs386834049
NM_017777.3(MKS1):c.472C>T (p.Arg158Ter) rs386834050
NM_017777.3(MKS1):c.515+1G>A rs201933838
NM_017777.3(MKS1):c.51_55dup (p.Asp19fs) rs386834051
NM_017777.3(MKS1):c.80+2T>C rs386834052
NM_017777.3(MKS1):c.958G>A (p.Val320Ile) rs386834053
NM_017890.4(VPS13B):c.10074_10075CA[1] (p.Thr3359fs) rs386834054
NM_017890.4(VPS13B):c.10156dup (p.Thr3386fs) rs386834055
NM_017890.4(VPS13B):c.10839_10840TC[1] (p.Leu3614fs) rs386834056
NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter) rs386834057
NM_017890.4(VPS13B):c.11125del (p.Leu3709fs) rs386834058
NM_017890.4(VPS13B):c.11169_11172dup (p.Arg3725fs) rs386834059
NM_017890.4(VPS13B):c.11216G>A (p.Trp3739Ter) rs386834060
NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) rs386834061
NM_017890.4(VPS13B):c.11505del (p.Lys3835fs) rs386834062
NM_017890.4(VPS13B):c.11556dup (p.Val3853fs) rs386834063
NM_017890.4(VPS13B):c.11564del (p.Tyr3855fs) rs386834064
NM_017890.4(VPS13B):c.11598del (p.Glu3867fs) rs386834065
NM_017890.4(VPS13B):c.11695_11698del (p.Ser3901fs) rs386834066
NM_017890.4(VPS13B):c.11780_11784delinsAA (p.Thr3927_Val3928delinsLys) rs386834067
NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup) rs386834068
NM_017890.4(VPS13B):c.11906_11915del (p.Pro3969fs) rs386834069
NM_017890.4(VPS13B):c.11907dup (p.Ser3970fs) rs180177374
NM_017890.4(VPS13B):c.2651-1G>A rs386834077
NM_017890.4(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078
NM_017890.4(VPS13B):c.2934+1_2934+2delGT rs180177358
NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080
NM_017890.4(VPS13B):c.3618T>A (p.Cys1206Ter) rs386834081
NM_017890.4(VPS13B):c.3666+2T>C rs386834082
NM_017890.4(VPS13B):c.4334del (p.Gln1445fs) rs386834084
NM_017890.4(VPS13B):c.4396dup (p.Thr1466fs) rs386834085
NM_017890.4(VPS13B):c.4411C>T (p.Arg1471Ter) rs386834086
NM_017890.4(VPS13B):c.4474del (p.Ile1492fs) rs386834087
NM_017890.4(VPS13B):c.4477_4479CTT[1] (p.Leu1494del) rs386834088
NM_017890.4(VPS13B):c.4572dup (p.Glu1525fs) rs386834089
NM_017890.4(VPS13B):c.4820+2T>C rs386834091
NM_017890.4(VPS13B):c.4878_4880dup (p.Tyr1627Ter) rs180177359
NM_017890.4(VPS13B):c.5086C>T (p.Arg1696Ter) rs386834093
NM_017890.4(VPS13B):c.5215_5232del (p.Ser1739_Gln1744del) rs180177362
NM_017890.4(VPS13B):c.5331dup (p.Asp1778Ter) rs386834094
NM_017890.4(VPS13B):c.5424_5425AG[3] (p.Gln1810fs) rs180177363
NM_017890.4(VPS13B):c.5461dup (p.Arg1821fs) rs180177364
NM_017890.4(VPS13B):c.5613_5614insT (p.Lys1872Ter) rs1554884838
NM_017890.4(VPS13B):c.5737dup (p.Ile1913fs) rs386834096
NM_017890.4(VPS13B):c.5750del (p.Ser1917fs) rs386834097
NM_017890.4(VPS13B):c.5809_5810del (p.Ile1937fs) rs386834098
NM_017890.4(VPS13B):c.5827C>T (p.Arg1943Ter) rs386834099
NM_017890.4(VPS13B):c.6420_6421del (p.Gln2140fs) rs386834101
NM_017890.4(VPS13B):c.6687del (p.Gln2229fs) rs386834102
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.6733-2A>G rs386834103
NM_017890.4(VPS13B):c.7022A>G (p.Tyr2341Cys) rs386834104
NM_017890.4(VPS13B):c.7221del (p.Gln2407fs) rs386834105
NM_017890.4(VPS13B):c.7504+1G>A rs386834106
NM_017890.4(VPS13B):c.7603C>T (p.Arg2535Ter) rs386834107
NM_017890.4(VPS13B):c.7610G>A (p.Trp2537Ter) rs386834108
NM_017890.4(VPS13B):c.7936del (p.Gln2646fs) rs386834109
NM_017890.4(VPS13B):c.8119C>T (p.Arg2707Ter) rs386834110
NM_017890.4(VPS13B):c.8341del (p.Glu2780_Leu2781insTer) rs386834111
NM_017890.4(VPS13B):c.8472G>A (p.Trp2824Ter) rs386834112
NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter) rs386834113
NM_017890.4(VPS13B):c.8611del (p.Thr2871fs) rs386834114
NM_017890.4(VPS13B):c.8697-2A>G rs386834115
NM_017890.4(VPS13B):c.8697-9A>G rs386834116
NM_017890.4(VPS13B):c.9260dupT (p.Leu3087Phefs) rs180177329
NM_017890.4(VPS13B):c.9406-1G>T rs386834119
NM_017890.4(VPS13B):c.9690-2A>G rs386834120
NM_017890.4(VPS13B):c.9706del (p.Tyr3236fs) rs386834121
NM_017890.4(VPS13B):c.9731del (p.Tyr3244fs) rs386834122
NM_018941.3(CLN8):c.181_183del (p.Lys61del) rs386834123
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.227A>G (p.Gln76Arg) rs386834125
NM_018941.3(CLN8):c.320T>G (p.Ile107Ser) rs386834126
NM_018941.3(CLN8):c.415C>T (p.His139Tyr) rs386834127
NM_018941.3(CLN8):c.464C>T (p.Ala155Val) rs386834128
NM_018941.3(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.3(CLN8):c.473A>G (p.Tyr158Cys) rs386834130
NM_018941.3(CLN8):c.507C>T (p.Ser169=) rs386834131
NM_018941.3(CLN8):c.509C>T (p.Thr170Met) rs188259026
NM_018941.3(CLN8):c.562_563delCT rs386834132
NM_018941.3(CLN8):c.581A>G (p.Gln194Arg) rs386834133
NM_018941.3(CLN8):c.611G>T (p.Arg204Leu) rs386834134
NM_018941.3(CLN8):c.634_636TGG[1] (p.Trp213del) rs386834135
NM_018941.3(CLN8):c.661G>A (p.Gly221Ser) rs386834136
NM_018941.3(CLN8):c.66del (p.Ile23fs) rs34238807
NM_018941.3(CLN8):c.766C>G (p.Gln256Glu) rs386834138
NM_018941.3(CLN8):c.88del (p.Ala30fs) rs386834139
NM_018965.3(TREM2):c.269del (p.Gly90fs) rs386834140
NM_018965.3(TREM2):c.313del (p.Ala105fs) rs386834141
NM_018965.3(TREM2):c.40+3_40+5del rs386834142
NM_018965.3(TREM2):c.40G>T (p.Glu14Ter) rs386834143
NM_018965.3(TREM2):c.482+2T>C rs386834144
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val) rs386834145
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) rs386834147
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1451delA (p.Lys484Argfs) rs386834149
NM_025114.3(CEP290):c.180+2T>A rs386834150
NM_025114.3(CEP290):c.1860_1861delAA (p.Asp622Phefs) rs386834151
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.289G>T (p.Glu97Ter) rs386834153
NM_025114.3(CEP290):c.3175delA (p.Ile1059Terfs) rs62640570
NM_025114.3(CEP290):c.3446_3447delAA (p.Lys1149Serfs) rs386834155
NM_025114.3(CEP290):c.381_382delAGinsT (p.Lys127Asnfs) rs386834156
NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs) rs386834157
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_025114.3(CEP290):c.5850delT (p.Phe1950Leufs) rs386834159
NM_030943.3(AMN):c.1006+16_1006+30del rs386834160
NM_030943.3(AMN):c.1006+34_1006+48del rs386834161
NM_030943.3(AMN):c.1006+36_1006+50del rs386834162
NM_030943.3(AMN):c.1014_1021del (p.Leu339fs) rs386834163
NM_030943.3(AMN):c.1170-6C>T rs386834164
NM_030943.3(AMN):c.1253dup (p.Leu419fs) rs386834165
NM_030943.3(AMN):c.1257+10C>T rs386834166
NM_030943.3(AMN):c.1312_1313CA[1] (p.His438fs) rs386834167
NM_030943.3(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.3(AMN):c.208-1G>C rs386834169
NM_030943.3(AMN):c.208-2A>G rs386834170
NM_030943.3(AMN):c.295delG rs386834171
NM_030943.3(AMN):c.43+1G>T rs386834172
NM_030943.3(AMN):c.468dup (p.Gly157fs) rs386834173
NM_030943.3(AMN):c.514-34G>A rs144077391
NM_030943.3(AMN):c.663G>A (p.Trp221Ter) rs386834174
NM_030943.3(AMN):c.683_730del (p.Gln228_Leu243del) rs386834175
NM_030943.3(AMN):c.701G>T (p.Cys234Phe) rs386834176
NM_030943.3(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_030943.3(AMN):c.761G>A (p.Gly254Glu) rs386834178
NM_030943.3(AMN):c.974_977dup (p.Ala327fs) rs386834179
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.5(TMEM67):c.1065+1delG rs386834181
NM_153704.5(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182
NM_153704.5(TMEM67):c.1322G>T (p.Arg441Leu) rs386834183
NM_153704.5(TMEM67):c.1336G>C (p.Asp446His) rs386834184
NM_153704.5(TMEM67):c.1413-1G>C rs386834185
NM_153704.5(TMEM67):c.1536_1537AT[1] (p.Thr512_Tyr513insTer) rs386834186
NM_153704.5(TMEM67):c.1575+1G>A rs386834187
NM_153704.5(TMEM67):c.161A>G (p.Tyr54Cys) rs386834188
NM_153704.5(TMEM67):c.2002T>C (p.Trp668Arg) rs386834189
NM_153704.5(TMEM67):c.224-2delA rs386834190
NM_153704.5(TMEM67):c.2301del (p.Asp768fs) rs386834191
NM_153704.5(TMEM67):c.2322+2dupT rs386834192
NM_153704.5(TMEM67):c.2357G>A (p.Gly786Glu) rs386834193
NM_153704.5(TMEM67):c.2528A>G (p.Tyr843Cys) rs386834194
NM_153704.5(TMEM67):c.2542G>T (p.Glu848Ter) rs386834195
NM_153704.5(TMEM67):c.2557A>T (p.Lys853Ter) rs386834196
NM_153704.5(TMEM67):c.2561dup (p.Asn854fs) rs386834197
NM_153704.5(TMEM67):c.2689_2690insTA (p.Lys897fs) rs386834198
NM_153704.5(TMEM67):c.2897T>C (p.Leu966Pro) rs386834199
NM_153704.5(TMEM67):c.383_384del (p.His128fs) rs386834200
NM_153704.5(TMEM67):c.387T>A (p.Cys129Ter) rs386834201
NM_153704.5(TMEM67):c.579_580del (p.Gly195fs) rs386834202
NM_153704.5(TMEM67):c.579del (p.Gly195fs) rs386834203
NM_153704.5(TMEM67):c.648del (p.Val217fs) rs386834204
NM_153704.5(TMEM67):c.651+2T>G rs199821258
NM_153704.5(TMEM67):c.675G>A (p.Trp225Ter) rs386834205
NM_153704.5(TMEM67):c.734C>T (p.Ser245Phe) rs386834206
NM_153704.5(TMEM67):c.870-2A>G rs386834207
NM_153704.5(TMEM67):c.888G>T (p.Trp296Cys) rs386834208

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