ClinVar Miner

List of variants reported by GeneReviews

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Minimum conflict level:
ClinVar version:
Total variants: 6249
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HGVS dbSNP gnomAD frequency
NM_198578.4(LRRK2):c.3021= (p.Ser1007=) rs55783828 0.99994
NM_198578.4(LRRK2):c.364= (p.Leu122=) rs41286468 0.99974
NM_198578.4(LRRK2):c.825= (p.His275=) rs72546315 0.99959
NM_198578.4(LRRK2):c.1383= (p.Ser461=) rs35847451 0.99953
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His) rs964201 0.99668
NM_198578.4(LRRK2):c.867= (p.Asn289=) rs17490713 0.98818
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) rs601314 0.89787
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) rs309458 0.85807
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82029
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_000787.3(DBH):c.-979T>C rs1611115 0.79837
NM_015915.5(ATL1):c.351G>A (p.Glu117=) rs1060197 0.79691
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_198578.4(LRRK2):c.4872C>A (p.Gly1624=) rs1427263 0.70218
NM_000255.4(MMUT):c.1595= (p.Arg532=) rs1141321 0.69890
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557 0.67053
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr) rs1801475 0.59301
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_194248.3(OTOF):c.2736G>C (p.Leu912=) rs4335905 0.56927
NM_198578.4(LRRK2):c.4911A>G (p.Lys1637=) rs11176013 0.56443
NM_198578.4(LRRK2):c.5457T>C (p.Gly1819=) rs10878371 0.56374
NM_004366.6(CLCN2):c.2003C>G (p.Thr668Ser) rs9820367 0.55598
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476 0.54054
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_198578.4(LRRK2):c.457T>C (p.Leu153=) rs10878245 0.50692
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_000098.3(CPT2):c.1102G>A (p.Val368Ile) rs1799821 0.46024
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val) rs1057090 0.44044
NM_000492.4(CFTR):c.1408= (p.Val470=) rs213950 0.43268
NM_000375.3(UROS):c.-219C>A rs4385801 0.41780
NM_000255.4(MMUT):c.636= (p.Lys212=) rs2229384 0.41433
NM_000255.4(MMUT):c.2011= (p.Ile671=) rs8589 0.41022
NM_000506.5(F2):c.1726-59G>A rs3136516 0.38221
NM_198578.4(LRRK2):c.7190= (p.Met2397=) rs3761863 0.38176
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys) rs13031859 0.35740
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile) rs3762271 0.30411
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=) rs2878749 0.30404
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly) rs41310927 0.30288
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=) rs41310925 0.30222
NM_000044.6(AR):c.639G>A (p.Glu213=) rs6152 0.28599
NM_198578.4(LRRK2):c.4939T>A (p.Ser1647Thr) rs11564148 0.26687
NM_198578.4(LRRK2):c.6324G>A (p.Glu2108=) rs10878405 0.26650
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091 0.26146
NM_000271.5(NPC1):c.1926= (p.Met642=) rs1788799 0.26043
NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys) rs6474 0.25928
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=) rs6676084 0.25582
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_194248.3(OTOF):c.372A>G (p.Thr124=) rs11687696 0.23539
NM_002775.5(HTRA1):c.102C>T (p.Ala34=) rs1049331 0.22934
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000430.4(PAFAH1B1):c.*17C>T rs6628 0.20094
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_015915.5(ATL1):c.84A>G (p.Pro28=) rs35014209 0.18809
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_152594.3(SPRED1):c.424-98= rs7163339 0.17991
NM_152594.3(SPRED1):c.424-8= rs7180446 0.17985
NM_000478.6(ALPL):c.787T>C (p.Tyr263His) rs3200254 0.17878
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.16782
NM_003227.4(TFR2):c.1851C>T (p.Ala617=) rs2075674 0.16252
NM_018136.5(ASPM):c.7605G>A (p.Val2535=) rs10922162 0.16179
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000098.3(CPT2):c.1939A>G (p.Met647Val) rs1799822 0.15237
NM_000156.6(GAMT):c.460-31G>A rs55776826 0.14411
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) rs1138404 0.14075
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472 0.13352
NM_001365536.1(SCN9A):c.3481= (p.Trp1161=) rs6746030 0.12070
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) rs12926089 0.11417
NM_198578.4(LRRK2):c.7155A>G (p.Gly2385=) rs33962975 0.11278
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val) rs4732748 0.10090
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala) rs17402892 0.10073
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys) rs7308720 0.10004
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528 0.09226
NM_198578.4(LRRK2):c.2857T>C (p.Leu953=) rs7966550 0.08994
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_033028.5(BBS4):c.1451-45T>C rs75847960 0.08550
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) rs34605986 0.07856
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_194248.3(OTOF):c.945G>A (p.Lys315=) rs41288779 0.07420
NM_000132.4(F8):c.6769A>G (p.Met2257Val) rs1800297 0.07378
NM_005259.3(MSTN):c.458A>G (p.Lys153Arg) rs1805086 0.07270
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=) rs11175964 0.05959
NM_182978.4(GNAL):c.1163-7T>G rs3892113 0.05790
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_004562.3(PRKN):c.500G>A (p.Ser167Asn) rs1801474 0.05277
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000130.5(F5):c.3980A>G (p.His1327Arg) rs1800595 0.05074
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_018136.5(ASPM):c.7860G>C (p.Gln2620His) rs12138336 0.04915
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374 0.04719
NM_198578.4(LRRK2):c.2167A>G (p.Ile723Val) rs10878307 0.04677
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103 0.04640
NM_000155.4(GALT):c.378-27G>C rs41274865 0.04615
NM_000155.4(GALT):c.508-24G>A rs41274867 0.04612
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_000155.4(GALT):c.507+62G>A rs2277202 0.04610
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) rs13010627 0.04350
NM_000756.2(CRH):c.-669C>A rs12721510 0.04273
NM_018136.5(ASPM):c.1977T>C (p.Ile659=) rs17550662 0.04184
NM_005259.3(MSTN):c.163G>A (p.Ala55Thr) rs1805085 0.04003
NM_003227.4(TFR2):c.714C>G (p.Ile238Met) rs34242818 0.03989
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03877
NM_194248.3(OTOF):c.4677G>A (p.Val1559=) rs2272071 0.03875
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865 0.03592
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000095.3(COMP):c.1156A>G (p.Asn386Asp) rs61739916 0.03133
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser) rs33958906 0.03091
NM_198578.3(LRRK2):c.149A>G (p.His50Arg) rs2256408 0.03048
NM_194248.3(OTOF):c.2022C>T (p.Asp674=) rs13004993 0.03023
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_018249.6(CDK5RAP2):c.3065G>A (p.Gly1022Glu) rs34523498 0.02942
NM_032977.4(CASP10):c.1337A>G (p.Tyr446Cys) rs17860405 0.02926
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_194248.3(OTOF):c.1926C>T (p.Asn642=) rs72853741 0.02727
NM_005413.4(SIX3):c.576C>T (p.Arg192=) rs182881 0.02708
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn) rs1801334 0.02570
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181 0.02258
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) rs2303995 0.02242
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_016616.4(NME8):c.271-27C>T rs117149381 0.01739
NR_001566.1(TERC):n.58G>A rs113487931 0.01733
NM_004366.6(CLCN2):c.2154G>C (p.Glu718Asp) rs2228292 0.01679
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_005413.4(SIX3):c.90G>T (p.Ala30=) rs78018362 0.01666
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760 0.01629
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) rs111656822 0.01603
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) rs80356573 0.01570
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01544
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) rs80356574 0.01529
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_194248.3(OTOF):c.5391C>T (p.Phe1797=) rs61747275 0.01514
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys) rs115371819 0.01496
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) rs79079368 0.01455
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly) rs6428388 0.01455
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp) rs33995883 0.01276
NM_000193.4(SHH):c.630C>T (p.Gly210=) rs9333634 0.01171
NM_033028.5(BBS4):c.*1G>C rs113678046 0.01165
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476 0.01101
NM_018136.5(ASPM):c.2805T>C (p.Ser935=) rs113161395 0.01101
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr) rs35303786 0.01047
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=) rs12849161 0.00922
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534 0.00860
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728 0.00839
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00801
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_194248.3(OTOF):c.1723G>A (p.Val575Met) rs55676840 0.00781
NM_018249.6(CDK5RAP2):c.1712T>C (p.Leu571Pro) rs41296081 0.00774
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala) rs4640000 0.00717
NM_021814.5(ELOVL5):c.246+3891C>T rs150583340 0.00704
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745 0.00627
NM_198578.4(LRRK2):c.4229C>T (p.Thr1410Met) rs72546327 0.00621
NM_004366.6(CLCN2):c.143C>G (p.Pro48Arg) rs115661422 0.00618
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_004993.6(ATXN3):c.916G>C (p.Gly306Arg) rs12895357 0.00572
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) rs138436961 0.00566
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773 0.00541
NM_004366.6(CLCN2):c.203G>A (p.Arg68His) rs61729156 0.00541
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln) rs35507033 0.00526
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_201631.4(TGM5):c.326C>T (p.Thr109Met) rs113463533 0.00516
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031 0.00509
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NR_001566.1(TERC):n.228G>A rs141686314 0.00478
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_004366.6(CLCN2):c.2173C>T (p.Arg725Trp) rs114702742 0.00416
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_018249.6(CDK5RAP2):c.4665G>T (p.Gln1555His) rs35909061 0.00402
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu) rs80358239 0.00307
NM_005215.4(DCC):c.1409G>A (p.Gly470Asp) rs141813053 0.00296
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=) rs79909111 0.00293
NM_005215.4(DCC):c.2105A>G (p.Asn702Ser) rs35691189 0.00284
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932 0.00272
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191 0.00271
NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys) rs78501232 0.00266
NM_015915.5(ATL1):c.621G>A (p.Lys207=) rs35629585 0.00263
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633 0.00262
NM_000121.4(EPOR):c.1310G>A (p.Arg437His) rs62638744 0.00253
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549 0.00252
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_000193.4(SHH):c.885C>T (p.Ser295=) rs549625672 0.00234
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) rs41303501 0.00218
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr) rs111294855 0.00212
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg) rs121909192 0.00208
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_004366.6(CLCN2):c.218G>A (p.Arg73His) rs144412275 0.00205
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094 0.00197
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860 0.00189
NM_003227.4(TFR2):c.1770C>T (p.Asp590=) rs35704760 0.00188
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428 0.00166
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_001002294.3(FMO3):c.1079T>C (p.Leu360Pro) rs28363581 0.00158
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753 0.00156
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00156
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu) rs72549326 0.00149
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser) rs45478900 0.00146
NM_198578.4(LRRK2):c.225G>A (p.Ala75=) rs75054132 0.00146
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro) rs33995463 0.00140
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885 0.00121
NM_007055.4(POLR3A):c.-35C>G rs201700756 0.00121
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His) rs78365431 0.00121
NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys) rs148545588 0.00119
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_198578.4(LRRK2):c.2022A>C (p.Val674=) rs72546319 0.00117
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_001242896.3(DEPDC5):c.3265-3C>T rs371377906 0.00108
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369 0.00108
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000787.4(DBH):c.339+2T>C rs74853476 0.00106
NM_005413.4(SIX3):c.219C>T (p.Pro73=) rs186163123 0.00105
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150 0.00103
NM_198578.4(LRRK2):c.6510C>A (p.Gly2170=) rs34869625 0.00101
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) rs141471029 0.00100
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654 0.00093
NM_000506.5(F2):c.*96C>T rs72550707 0.00093
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys) rs3087425 0.00089
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met) rs35173587 0.00085
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_004366.6(CLCN2):c.2240G>A (p.Arg747His) rs144164281 0.00081
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) rs199422321 0.00077
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_001009994.3(RIPPLY2):c.240-4T>G rs370933531 0.00074
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932 0.00070
NM_170784.3(MKKS):c.-74G>A rs113994194 0.00070
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) rs80338730 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_003227.4(TFR2):c.1403G>A (p.Arg468His) rs80338885 0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773 0.00065
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln) rs121908517 0.00063
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp) rs137852695 0.00061
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr) rs35602796 0.00060
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322 0.00058
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn) rs141242566 0.00056
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_000112.4(SLC26A2):c.-26+2T>C rs386833492 0.00055
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys) rs35658131 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_020436.5(SALL4):c.541G>A (p.Val181Met) rs139382539 0.00052
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_198578.4(LRRK2):c.4111A>G (p.Ile1371Val) rs17466213 0.00050
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_080860.4(RSPH1):c.275-2A>C rs151107532 0.00048
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln) rs137852682 0.00047
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu) rs145431028 0.00046
NM_004366.6(CLCN2):c.1856-3C>T rs371193424 0.00044
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00043
NM_032520.5(GNPTG):c.857C>T (p.Thr286Met) rs193302860 0.00043
NM_001242896.3(DEPDC5):c.3092C>A (p.Pro1031His) rs376744360 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_018451.5(CENPJ):c.452A>G (p.Glu151Gly) rs34177811 0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_198578.4(LRRK2):c.2481T>C (p.Ser827=) rs76890302 0.00038
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_003982.4(SLC7A7):c.895-2A>T rs146582474 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706 0.00035
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_001002294.3(FMO3):c.913G>T (p.Glu305Ter) rs61753344 0.00035
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811 0.00035
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869 0.00034
NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu) rs201649896 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_018122.5(DARS2):c.492+2T>C rs142433332 0.00034
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712 0.00033
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala) rs41306027 0.00032
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173 0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) rs111033538 0.00031
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243 0.00030
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_018136.5(ASPM):c.937A>G (p.Ile313Val) rs12025066 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_018206.6(VPS35):c.151G>A (p.Gly51Ser) rs193077277 0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_000113.3(TOR1A):c.361G>A (p.Glu121Lys) rs199535970 0.00027
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val) rs121434367 0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 0.00026
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro) rs121434373 0.00026
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu) rs140463309 0.00025
NM_007055.4(POLR3A):c.2381A>C (p.Gln794Pro) rs552353597 0.00025
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_018082.6(POLR3B):c.2817+30T>A rs142517808 0.00025
NM_018451.5(CENPJ):c.3305A>G (p.Asn1102Ser) rs41300592 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NM_198578.4(LRRK2):c.1256C>T (p.Ala419Val) rs34594498 0.00025
NM_198578.4(LRRK2):c.7067C>T (p.Thr2356Ile) rs113511708 0.00025
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00024
NM_001126121.2(SLC25A19):c.530G>C (p.Gly177Ala) rs119473030 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_032387.5(WNK4):c.3553C>T (p.Arg1185Cys) rs137853095 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_198578.4(LRRK2):c.5467C>A (p.Gln1823Lys) rs72547980 0.00024
NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg) rs119103282 0.00024
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) rs121912974 0.00023
NM_175875.5(SIX5):c.1655C>T (p.Thr552Met) rs80356464 0.00023
NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu) rs34410987 0.00023
NM_198578.4(LRRK2):c.856C>G (p.Leu286Val) rs200437744 0.00023
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr) rs147718607 0.00022
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val) rs80356715 0.00022
NM_014585.5(SLC40A1):c.809A>T (p.Asp270Val) rs368420430 0.00022
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter) rs371720347 0.00022
NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His) rs77428810 0.00022
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) rs74315297 0.00021
NM_000130.5(F5):c.1000A>G (p.Arg334Gly) rs118203905 0.00021
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000518.5(HBB):c.-138C>T rs33944208 0.00021
NM_000756.3(CRH):c.-365G>C rs72556399 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254 0.00021
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr) rs199877522 0.00021
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly) rs138815960 0.00021
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln) rs72546338 0.00021
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_001242896.3(DEPDC5):c.1355C>T (p.Ala452Val) rs202226316 0.00020
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_032977.4(CASP10):c.853C>T (p.Leu285Phe) rs17860403 0.00020
NM_175875.5(SIX5):c.472G>A (p.Ala158Thr) rs80356461 0.00020
NM_198578.4(LRRK2):c.2769G>C (p.Gln923His) rs58559150 0.00020
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113 0.00019
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs) rs397515338 0.00019
NM_198578.4(LRRK2):c.3683G>C (p.Ser1228Thr) rs60185966 0.00019
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) rs55989760 0.00018
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys) rs72552292 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe) rs187833337 0.00017
NM_001242896.3(DEPDC5):c.3241A>C (p.Thr1081Pro) rs142540948 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524 0.00016
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579 0.00016
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile) rs121964974 0.00016
NM_000187.4(HGD):c.481G>A (p.Gly161Arg) rs28941783 0.00016
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823 0.00016
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548 0.00016
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter) rs80358249 0.00016
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_020806.5(GPHN):c.28A>T (p.Asn10Tyr) rs121908539 0.00016
NM_032229.3(SLITRK6):c.1240C>T (p.Gln414Ter) rs587777069 0.00016
NM_198578.4(LRRK2):c.1561A>G (p.Arg521Gly) rs35328937 0.00016
NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=) rs35808389 0.00016
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895 0.00016
NM_000049.4(ASPA):c.212G>A (p.Arg71His) rs104894553 0.00015
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574 0.00015
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802 0.00014
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134 0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys) rs147611168 0.00014
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614 0.00014
NM_003227.4(TFR2):c.224C>T (p.Ala75Val) rs41302357 0.00014
NM_003227.4(TFR2):c.64G>A (p.Val22Ile) rs80338876 0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000756.4(CRH):c.89C>G (p.Pro30Arg) rs748404250 0.00013
NM_004614.5(TK2):c.323C>T (p.Thr108Met) rs137854431 0.00013
NM_005215.4(DCC):c.2000G>A (p.Arg667His) rs200099519 0.00013
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro) rs376103979 0.00013
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_000787.4(DBH):c.1033G>A (p.Asp345Asn) rs267606761 0.00012
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856 0.00012
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_002381.5(MATN3):c.209G>A (p.Arg70His) rs104893640 0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_004562.3(PRKN):c.1096C>T (p.Arg366Trp) rs56092260 0.00012
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg) rs80338765 0.00012
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val) rs113994022 0.00012
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) rs364897 0.00011
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371 0.00011
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_001739.2(CA5A):c.555G>A (p.Lys185=) rs147623570 0.00011
NM_005215.4(DCC):c.527A>G (p.Asn176Ser) rs138724679 0.00011
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His) rs200321595 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) rs121918208 0.00011
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996 0.00011
NM_198253.3(TERT):c.2178G>A (p.Thr726=) rs199422288 0.00011
NM_198578.4(LRRK2):c.3451G>A (p.Ala1151Thr) rs74985840 0.00011
NM_198578.4(LRRK2):c.632C>T (p.Ala211Val) rs112794616 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429 0.00010
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850 0.00010
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_000639.3(FASLG):c.466A>G (p.Arg156Gly) rs80358238 0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 0.00010
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter) rs201740530 0.00010
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr) rs374270497 0.00010
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504 0.00010
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln) rs281875211 0.00010
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_203290.4(POLR1C):c.572G>A (p.Arg191Gln) rs373046018 0.00010
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) rs80338711 0.00009
NM_000137.4(FAH):c.786G>A (p.Trp262Ter) rs80338899 0.00009
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637 0.00009
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys) rs515726212 0.00009
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter) rs137853131 0.00009
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 0.00009
NM_018082.6(POLR3B):c.2944A>G (p.Asn982Asp) rs368213717 0.00009
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_018206.6(VPS35):c.946C>T (p.Pro316Ser) rs770029606 0.00009
NM_020533.3(MCOLN1):c.406-2A>G rs104886461 0.00009
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr) rs80356462 0.00009
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850 0.00009
NM_194248.3(OTOF):c.4227+1G>T rs397515601 0.00009
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_198578.4(LRRK2):c.3960G>T (p.Arg1320Ser) rs77018758 0.00009
NM_198578.4(LRRK2):c.6428G>A (p.Arg2143His) rs201271001 0.00009
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576 0.00009
NR_104387.1(TAF1):n.5894C>T rs397509359 0.00009
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292 0.00008
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro) rs148234606 0.00008
NM_004614.5(TK2):c.388C>T (p.Arg130Trp) rs281865493 0.00008
NM_015340.4(LARS2):c.1358G>A (p.Arg453Gln) rs572177274 0.00008
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369 0.00008
NM_198578.4(LRRK2):c.683G>C (p.Cys228Ser) rs56108242 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro) rs199476197 0.00008
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000130.5(F5):c.1001G>C (p.Arg334Thr) rs118203906 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000278.5(PAX2):c.1091G>A (p.Ser364Asn) rs138490772 0.00007
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_001048166.1(STIL):c.3437C>T (p.Ala1146Val) rs3766317 0.00007
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) rs376785840 0.00007
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862 0.00007
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly) rs78437096 0.00007
NM_004519.4(KCNQ3):c.2338C>T (p.Arg780Cys) rs138852641 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly) rs104894425 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562 0.00007
NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His) rs781691587 0.00007
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646 0.00007
NM_181426.2(CCDC39):c.357+1G>C rs397515392 0.00007
NM_198578.4(LRRK2):c.4348G>A (p.Val1450Ile) rs111501952 0.00007
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525 0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln) rs727502811 0.00006
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) rs80338900 0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) rs80338898 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs) rs387906315 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000187.4(HGD):c.808G>A (p.Gly270Arg) rs120074174 0.00006
NM_000193.4(SHH):c.676G>A (p.Ala226Thr) rs104894043 0.00006
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000375.3(UROS):c.673G>A (p.Gly225Ser) rs121908020 0.00006
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959 0.00006
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) rs61750595 0.00006
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val) rs780320724 0.00006
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe) rs200797928 0.00006
NM_001358921.2(COQ2):c.232A>G (p.Met78Val) rs778094136 0.00006
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582 0.00006
NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg) rs398124641 0.00006
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val) rs111033609 0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596 0.00006
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_002863.5(PYGL):c.1620+1G>A rs113993981 0.00006
NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg) rs80338891 0.00006
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385 0.00006
NM_004211.5(SLC6A5):c.1274C>T (p.Thr425Met) rs121908498 0.00006
NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys) rs121908494 0.00006
NM_006261.5(PROP1):c.150del (p.Arg53fs) rs587776683 0.00006
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys) rs761357250 0.00006
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter) rs80338729 0.00006
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter) rs202247807 0.00006
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter) rs121918293 0.00006
NM_018206.6(VPS35):c.2320C>A (p.Leu774Met) rs192419029 0.00006
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281 0.00006
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser) rs119468009 0.00006
NM_024529.5(CDC73):c.1066+8T>C rs80356647 0.00006
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter) rs138320978 0.00006
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg) rs200478425 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_194318.4(B3GLCT):c.347+5G>A rs80338850 0.00006
NM_198253.3(TERT):c.2177C>T (p.Thr726Met) rs149566858 0.00006
NM_198578.4(LRRK2):c.4323C>T (p.Arg1441=) rs112998035 0.00006
NM_198578.4(LRRK2):c.546A>G (p.Lys182=) rs35517158 0.00006
NM_203290.4(POLR1C):c.326G>A (p.Arg109His) rs796052127 0.00006
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526 0.00005
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) rs80356681 0.00005
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178 0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000485.3(APRT):c.400+2dup rs745594160 0.00005
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.316-197C>T rs34451549 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000787.4(DBH):c.301G>A (p.Val101Met) rs267606760 0.00005
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001242896.3(DEPDC5):c.3217A>C (p.Ser1073Arg) rs754608531 0.00005
NM_001288705.3(CSF1R):c.2562T>A (p.Asn854Lys) rs690016565 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) rs113993973 0.00005
NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp) rs113994068 0.00005
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=) rs80358269 0.00005
NM_004750.5(CRLF1):c.242G>A (p.Arg81His) rs104894670 0.00005
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_014252.4(SLC25A15):c.535C>T (p.Arg179Ter) rs104894429 0.00005
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser) rs142326926 0.00005
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter) rs376879175 0.00005
NM_015713.5(RRM2B):c.846G>C (p.Met282Ile) rs182614164 0.00005
NM_017671.5(FERMT1):c.910G>T (p.Glu304Ter) rs146180696 0.00005
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243 0.00005
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699 0.00005
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595 0.00005
NM_198578.4(LRRK2):c.1829T>C (p.Ile610Thr) rs566811888 0.00005
NM_198578.4(LRRK2):c.6422C>T (p.Thr2141Met) rs111691891 0.00005
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183 0.00005
NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr) rs119103283 0.00005
NM_207352.4(CYP4V2):c.400G>T (p.Gly134Ter) rs199476189 0.00005
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) rs63749824 0.00004
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523 0.00004
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520 0.00004
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) rs186044004 0.00004
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868 0.00004
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370 0.00004
NM_000187.4(HGD):c.16-1G>A rs397515347 0.00004
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) rs772552898 0.00004
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251 0.00004
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399 0.00004
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000492.4(CFTR):c.1766+1G>A rs121908748 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_000492.4(CFTR):c.579+1G>T rs77188391 0.00004
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000518.5(HBB):c.-140C>T rs34999973 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp) rs182812968 0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_000631.5(NCF4):c.314G>A (p.Arg105Gln) rs387906808 0.00004
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) rs201948406 0.00004
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu) rs148936893 0.00004
NM_001360.3(DHCR7):c.725G>A (p.Arg242His) rs80338857 0.00004
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812 0.00004
NM_001365536.1(SCN9A):c.601T>G (p.Leu201Val) rs80356465 0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter) rs141507441 0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr) rs752137335 0.00004
NM_001953.5(TYMP):c.215-1G>C rs767245071 0.00004
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser) rs121913040 0.00004
NM_002381.5(MATN3):c.693G>C (p.Lys231Asn) rs773642745 0.00004
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) rs113993970 0.00004
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala) rs28939717 0.00004
NM_003977.4(AIP):c.135C>T (p.Asp45=) rs181969066 0.00004
NM_003977.4(AIP):c.584T>C (p.Val195Ala) rs267606561 0.00004
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) rs557128093 0.00004
NM_004211.5(SLC6A5):c.1131C>A (p.Tyr377Ter) rs121908493 0.00004
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) rs113994091 0.00004
NM_004366.6(CLCN2):c.1412G>A (p.Arg471His) rs771507094 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207 0.00004
NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln) rs141717050 0.00004
NM_007055.4(POLR3A):c.2045G>A (p.Arg682Gln) rs781132110 0.00004
NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys) rs371703979 0.00004
NM_007272.3(CTRC):c.164G>A (p.Trp55Ter) rs121909294 0.00004
NM_007375.4(TARDBP):c.*83T>C rs80356744 0.00004
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp) rs28940289 0.00004
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn) rs28942109 0.00004
NM_017671.5(FERMT1):c.328C>T (p.Arg110Ter) rs765716291 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_018082.6(POLR3B):c.3008A>G (p.Tyr1003Cys) rs368953286 0.00004
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 0.00004
NM_018965.4(TREM2):c.197C>T (p.Thr66Met) rs201258663 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372 0.00004
NM_023036.6(DNAI2):c.787C>T (p.Arg263Ter) rs137852998 0.00004
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) rs376095522 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs) rs312262755 0.00004
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) rs121908172 0.00004
NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter) rs45539432 0.00004
NM_032520.5(GNPTG):c.610-2A>G rs193302855 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) rs775224457 0.00004
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563 0.00004
NM_172107.4(KCNQ2):c.1259C>T (p.Pro420Leu) rs139164500 0.00004
NM_172107.4(KCNQ2):c.1602G>A (p.Pro534=) rs775089685 0.00004
NM_172107.4(KCNQ2):c.1887+5G>A rs777916008 0.00004
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593 0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00004
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_198578.4(LRRK2):c.155C>T (p.Ser52Phe) rs72546335 0.00004
NM_198578.4(LRRK2):c.3018A>G (p.Ile1006Met) rs113217062 0.00004
NM_198578.4(LRRK2):c.3574A>G (p.Ile1192Val) rs281865047 0.00004
NM_198578.4(LRRK2):c.4959A>G (p.Leu1653=) rs111503579 0.00004
NM_198578.4(LRRK2):c.6929C>T (p.Thr2310Met) rs200002022 0.00004
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp) rs199476185 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000096.4(CP):c.1049C>A (p.Ala350Asp) rs386134127 0.00003
NM_000113.3(TOR1A):c.385G>A (p.Val129Ile) rs529094238 0.00003
NM_000146.4(FTL):c.474G>A (p.Pro158=) rs758414077 0.00003
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp) rs439898 0.00003
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673 0.00003
NM_000187.4(HGD):c.688C>T (p.Pro230Ser) rs28942100 0.00003
NM_000193.4(SHH):c.708C>A (p.Ser236Arg) rs587778806 0.00003
NM_000193.4(SHH):c.825G>A (p.Ala275=) rs587778813 0.00003
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) rs121918254 0.00003
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256 0.00003
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278 0.00003
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179 0.00003
NM_000285.4(PEPD):c.793C>T (p.Arg265Ter) rs121917725 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000374.5(UROD):c.636+1G>C rs145195562 0.00003
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 0.00003
NM_000481.4(AMT):c.878-1G>A rs181134220 0.00003
NM_000485.3(APRT):c.194A>T (p.Asp65Val) rs104894506 0.00003
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn) rs118204447 0.00003
NM_000518.5(HBB):c.-151C>T rs63751208 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr) rs118192120 0.00003
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356 0.00003
NM_000824.5(GLRB):c.610+5G>A rs281864922 0.00003
NM_001002294.3(FMO3):c.182A>G (p.Asn61Ser) rs72549322 0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp) rs137853859 0.00003
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286 0.00003
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001110556.2(FLNA):c.5407G>A (p.Glu1803Lys) rs368750879 0.00003
NM_001122955.4(BSCL2):c.864-2A>C rs766061024 0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe) rs578244490 0.00003
NM_001242896.3(DEPDC5):c.4033+5A>G rs886039270 0.00003
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460 0.00003
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys) rs786205138 0.00003
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855 0.00003
NM_001281503.2(SLITRK1):c.*689G>A rs191284403 0.00003
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) rs121918231 0.00003
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864 0.00003
NM_001371596.2(MFSD8):c.754+2T>A rs587778809 0.00003
NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter) rs1250997630 0.00003
NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly) rs80356796 0.00003
NM_001953.5(TYMP):c.856G>A (p.Glu286Lys) rs866001342 0.00003
NM_002381.5(MATN3):c.656C>A (p.Ala219Asp) rs28939677 0.00003
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) rs121909721 0.00003
NM_002529.4(NTRK1):c.851-33T>A rs80356674 0.00003
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter) rs113993971 0.00003
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys) rs113993984 0.00003
NM_002863.5(PYGL):c.2461T>C (p.Tyr821His) rs113993988 0.00003
NM_003227.4(TFR2):c.750C>G (p.Tyr250Ter) rs80338880 0.00003
NM_003907.3(EIF2B5):c.1016G>A (p.Arg339Gln) rs113994069 0.00003
NM_003977.4(AIP):c.-5G>C rs267606562 0.00003
NM_003977.4(AIP):c.591G>A (p.Glu197=) rs202006716 0.00003
NM_003977.4(AIP):c.965C>T (p.Ala322Val) rs267606586 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_004366.6(CLCN2):c.1143del (p.Gly382fs) rs863225252 0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006397.3(RNASEH2A):c.719C>T (p.Thr240Met) rs79843600 0.00003
NM_006397.3(RNASEH2A):c.872G>A (p.Arg291His) rs75037667 0.00003
NM_006412.4(AGPAT2):c.492+1G>A rs933422777 0.00003
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr) rs367543041 0.00003
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser) rs80356718 0.00003
NM_012208.4(HARS2):c.598C>G (p.Leu200Val) rs397515410 0.00003
NM_014251.3(SLC25A13):c.615+5G>A rs80338717 0.00003
NM_014297.5(ETHE1):c.491C>A (p.Thr164Lys) rs1268640442 0.00003
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn) rs763799125 0.00003
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) rs121434379 0.00003
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter) rs137852923 0.00003
NM_015713.5(RRM2B):c.329G>A (p.Arg110His) rs267607025 0.00003
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser) rs515726196 0.00003
NM_015713.5(RRM2B):c.817G>A (p.Gly273Ser) rs387906891 0.00003
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728 0.00003
NM_018082.6(POLR3B):c.1018C>T (p.Arg340Ter) rs148879912 0.00003
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter) rs267608688 0.00003
NM_018136.5(ASPM):c.5136C>A (p.Tyr1712Ter) rs148294838 0.00003
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter) rs199422186 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_021830.5(TWNK):c.1802G>A (p.Arg601Gln) rs141315771 0.00003
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln) rs281864970 0.00003
NM_024312.5(GNPTAB):c.3335+1G>A rs34940801 0.00003
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter) rs35878526 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_024596.5(MCPH1):c.80C>G (p.Thr27Arg) rs199422124 0.00003
NM_024876.4(COQ8B):c.958C>T (p.Arg320Trp) rs369573693 0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_025137.4(SPG11):c.2834+1G>T rs312262749 0.00003
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963 0.00003
NM_031448.6(C19orf12):c.-2C>T rs397514477 0.00003
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306 0.00003
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln) rs147401037 0.00003
NM_033409.4(SLC52A3):c.796C>T (p.Arg266Trp) rs370499474 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 0.00003
NM_052845.4(MMAB):c.291-1G>A rs199971687 0.00003
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) rs746219370 0.00003
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) rs267607192 0.00003
NM_080669.6(SLC46A1):c.1082-1G>A rs80338775 0.00003
NM_080669.6(SLC46A1):c.1126C>T (p.Arg376Trp) rs80338773 0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_198578.4(LRRK2):c.1464A>T (p.Leu488=) rs75711334 0.00003
NM_198578.4(LRRK2):c.1517G>A (p.Arg506Gln) rs202009639 0.00003
NM_198578.4(LRRK2):c.1987T>C (p.Ser663Pro) rs78154388 0.00003
NM_198578.4(LRRK2):c.2314C>T (p.Arg772Ter) rs376015112 0.00003
NM_198578.4(LRRK2):c.3287C>G (p.Ser1096Cys) rs76535406 0.00003
NM_198578.4(LRRK2):c.4290C>T (p.Ala1430=) rs111435410 0.00003
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys) rs33939927 0.00003
NM_198578.4(LRRK2):c.5183G>A (p.Arg1728His) rs145364431 0.00003
NM_198578.4(LRRK2):c.7168G>A (p.Val2390Met) rs79546190 0.00003
NM_198578.4(LRRK2):c.7224G>A (p.Met2408Ile) rs60545352 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_203290.4(POLR1C):c.221A>G (p.Asn74Ser) rs371802902 0.00003
NM_203290.4(POLR1C):c.785T>C (p.Ile262Thr) rs751006626 0.00003
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His) rs199476203 0.00003
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) rs119103284 0.00003
NM_213595.4(ISCU):c.149G>A (p.Gly50Glu) rs267607190 0.00003
NR_001566.1(TERC):n.37A>G rs199422261 0.00003
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg) rs1189763523 0.00002
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522 0.00002
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) rs121908530 0.00002
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238 0.00002
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys) rs80338778 0.00002
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) rs762754992 0.00002
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803 0.00002
NM_000094.4(COL7A1):c.497dup (p.Val168fs) rs766902987 0.00002
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433 0.00002
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter) rs74315442 0.00002
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val) rs104893916 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744 0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886 0.00002
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248 0.00002
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00002
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552 0.00002
NM_000311.5(PRNP):c.628G>A (p.Val210Ile) rs74315407 0.00002
NM_000335.5(SCN5A):c.845G>A (p.Arg282His) rs199473083 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581 0.00002
NM_000485.3(APRT):c.448G>T (p.Val150Phe) rs281860266 0.00002
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442 0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040 0.00002
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00002
NM_000631.5(NCF4):c.143_152dup (p.Lys52fs) rs869025585 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp) rs780517804 0.00002
NM_001008216.2(GALE):c.905G>A (p.Gly302Asp) rs137853861 0.00002
NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter) rs118204043 0.00002
NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter) rs118204041 0.00002
NM_001032386.2(SUOX):c.1200C>G (p.Tyr400Ter) rs747461754 0.00002
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234 0.00002
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys) rs1064795656 0.00002
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn) rs121918233 0.00002
NM_001379610.1(SPINK1):c.27del (p.Ser10fs) rs193922659 0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063 0.00002
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys) rs563971993 0.00002
NM_002074.5(GNB1):c.727A>G (p.Thr243Ala) rs1394767075 0.00002
NM_002529.4(NTRK1):c.287+2dup rs768373757 0.00002
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_002863.5(PYGL):c.1366G>A (p.Val456Met) rs113993979 0.00002
NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys) rs113993980 0.00002
NM_002863.5(PYGL):c.1768+1G>A rs113993982 0.00002
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter) rs1373388852 0.00002
NM_003977.4(AIP):c.383G>A (p.Arg128His) rs267606550 0.00002
NM_004366.6(CLCN2):c.1015G>C (p.Val339Leu) rs532632165 0.00002
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) rs201330912 0.00002
NM_004366.6(CLCN2):c.1957A>T (p.Arg653Ter) rs863225256 0.00002
NM_004366.6(CLCN2):c.2279C>T (p.Ala760Val) rs781034991 0.00002
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) rs118192252 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 0.00002
NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys) rs768119894 0.00002
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter) rs121917704 0.00002
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632 0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603 0.00002
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter) rs181690344 0.00002
NM_006031.6(PCNT):c.3465-1G>A rs755084205 0.00002
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_006502.3(POLH):c.490G>T (p.Glu164Ter) rs767433001 0.00002
NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser) rs771786550 0.00002
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys) rs267608682 0.00002
NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His) rs200118797 0.00002
NM_012233.3(RAB3GAP1):c.899+1G>A rs587777152 0.00002
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln) rs745656120 0.00002
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys) rs113994123 0.00002
NM_015340.4(LARS2):c.1556C>T (p.Thr519Met) rs141097216 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015713.5(RRM2B):c.48G>A (p.Glu16=) rs515726180 0.00002
NM_015713.5(RRM2B):c.686G>T (p.Gly229Val) rs121918311 0.00002
NM_016038.4(SBDS):c.258+1G>C rs113993992 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_016616.5(NME8):c.1277T>A (p.Leu426Ter) rs121918300 0.00002
NM_018082.6(POLR3B):c.1263+2T>C rs774526181 0.00002
NM_018082.6(POLR3B):c.1857-12A>G rs528038639 0.00002
NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu) rs775141057 0.00002
NM_018082.6(POLR3B):c.2899A>C (p.Ser967Arg) rs200865021 0.00002
NM_018136.5(ASPM):c.349C>T (p.Arg117Ter) rs137852996 0.00002
NM_018206.6(VPS35):c.2210C>T (p.Ala737Val) rs749516404 0.00002
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) rs104894002 0.00002
NM_019032.6(ADAMTSL4):c.2237G>A (p.Arg746His) rs754966903 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020312.4(COQ9):c.730C>T (p.Arg244Ter) rs267606751 0.00002
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) rs118203956 0.00002
NM_024312.5(GNPTAB):c.2715+2T>G rs281865001 0.00002
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) rs281865025 0.00002
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925 0.00002
NM_024876.4(COQ8B):c.857A>G (p.Asp286Gly) rs398122979 0.00002
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter) rs199588440 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_025137.4(SPG11):c.704_705del (p.His235fs) rs312262719 0.00002
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) rs370547023 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala) rs267606687 0.00002
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp) rs267606684 0.00002
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434 0.00002
NM_130837.3(OPA1):c.740G>A (p.Arg247His) rs138350727 0.00002
NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter) rs148559256 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro) rs864309726 0.00002
NM_173477.5(USH1G):c.46C>G (p.Leu16Val) rs876657419 0.00002
NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter) rs267607225 0.00002
NM_182978.4(GNAL):c.505-5T>C rs766177601 0.00002
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049 0.00002
NM_198578.4(LRRK2):c.1132C>T (p.Leu378Phe) rs200870486 0.00002
NM_198578.4(LRRK2):c.3200G>A (p.Arg1067Gln) rs111341148 0.00002
NM_198578.4(LRRK2):c.7186_7187dup (p.Val2396_Met2397insTer) rs281865056 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_213655.5(WNK1):c.3301C>T (p.Gln1101Ter) rs111033590 0.00002
NM_000021.4(PSEN1):c.806G>A (p.Arg269His) rs63750900 0.00001
NM_000047.3(ARSL):c.119T>G (p.Ile40Ser) rs80338710 0.00001
NM_000047.3(ARSL):c.1442C>T (p.Thr481Met) rs80338713 0.00001
NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser) rs28935474 0.00001
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg) rs377217076 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743 0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) rs778768583 0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704 0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696 0.00001
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) rs80356691 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170 0.00001
NM_000095.3(COMP):c.500G>A (p.Gly167Glu) rs763887855 0.00001
NM_000096.4(CP):c.1209-2A>G rs386134137 0.00001
NM_000096.4(CP):c.2689_2690del (p.Leu897fs) rs386134153 0.00001
NM_000096.4(CP):c.2701C>T (p.Arg901Ter) rs386134156 0.00001
NM_000096.4(CP):c.395-1G>A rs386134135 0.00001
NM_000096.4(CP):c.548T>C (p.Ile183Thr) rs386134123 0.00001
NM_000096.4(CP):c.643C>T (p.Arg215Ter) rs386134155 0.00001
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295 0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296 0.00001
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) rs74315293 0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177 0.00001
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674 0.00001
NM_000100.4(CSTB):c.10G>C (p.Gly4Arg) rs74315443 0.00001
NM_000100.4(CSTB):c.125C>A (p.Ser42Ter) rs386833439 0.00001
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter) rs545986367 0.00001
NM_000100.4(CSTB):c.149G>A (p.Gly50Glu) rs312262708 0.00001
NM_000112.4(SLC26A2):c.1361A>C (p.Gln454Pro) rs104893921 0.00001
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105 0.00001
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) rs1801176 0.00001
NM_000153.4(GALC):c.169G>A (p.Gly57Ser) rs11623 0.00001
NM_000156.6(GAMT):c.438A>G (p.Thr146=) rs80338733 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) rs80356769 0.00001
NM_000157.4(GBA1):c.1505G>A (p.Arg502His) rs80356772 0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln) rs79653797 0.00001
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) rs1064644 0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) rs381737 0.00001
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter) rs137852894 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000171.4(GLRA1):c.299G>A (p.Arg100His) rs281864914 0.00001
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) rs63750741 0.00001
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter) rs63749873 0.00001
NM_000179.3(MSH6):c.651dup (p.Lys218Ter) rs63750955 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000193.4(SHH):c.1005G>A (p.Val335=) rs587778774 0.00001
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) rs137853341 0.00001
NM_000193.4(SHH):c.664G>A (p.Asp222Asn) rs587778805 0.00001
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946 0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029 0.00001
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr) rs80338755 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878 0.00001
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) rs753288303 0.00001
NM_000255.4(MMUT):c.2054T>G (p.Leu685Arg) rs864309739 0.00001
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) rs777758903 0.00001
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys) rs140600746 0.00001
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936 0.00001
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249 0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys) rs121918257 0.00001
NM_000255.4(MMUT):c.521T>C (p.Phe174Ser) rs864309733 0.00001
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg) rs778702777 0.00001
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206 0.00001
NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro) rs876657416 0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198 0.00001
NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val) rs1353058781 0.00001
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594 0.00001
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) rs80358253 0.00001
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr) rs80358258 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000278.5(PAX2):c.1021+233A>T rs606231415 0.00001
NM_000288.4(PEX7):c.854A>G (p.His285Arg) rs62653611 0.00001
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) rs121913550 0.00001
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700 0.00001
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr) rs80338702 0.00001
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704 0.00001
NM_000303.3(PMM2):c.95T>G (p.Leu32Arg) rs104894533 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His) rs80338784 0.00001
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556 0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) rs80338789 0.00001
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) rs199473282 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp) rs397515522 0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) rs397515524 0.00001
NM_000375.3(UROS):c.-203T>C rs1554891988 0.00001
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016 0.00001
NM_000380.4(XPA):c.390-1G>C rs750218942 0.00001
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter) rs745554420 0.00001
NM_000390.4(CHM):c.1609+2dup rs386833676 0.00001
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln) rs758439420 0.00001
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) rs1038744864 0.00001
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) rs202247791 0.00001
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter) rs121913577 0.00001
NM_000459.5(TEK):c.2545C>T (p.Arg849Trp) rs80338908 0.00001
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000478.6(ALPL):c.1559del (p.Leu520fs) rs387906525 0.00001
NM_000485.3(APRT):c.294G>A (p.Trp98Ter) rs104894507 0.00001
NM_000487.6(ARSA):c.1210+1G>A rs80338820 0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819 0.00001
NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe) rs398123433 0.00001
NM_000512.5(GALNS):c.898+1G>C rs761850746 0.00001
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000518.5(HBB):c.*111A>G rs63751128 0.00001
NM_000518.5(HBB):c.-78A>G rs33931746 0.00001
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000528.4(MAN2B1):c.1831-2A>G rs80338678 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542 0.00001
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820 0.00001
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro) rs202247822 0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14170A>C (p.Lys4724Gln) rs118192141 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr) rs120074126 0.00001
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) rs61751296 0.00001
NM_000639.3(FASLG):c.740C>A (p.Ala247Glu) rs80358237 0.00001
NM_000639.3(FASLG):c.829G>A (p.Gly277Ser) rs1413244355 0.00001
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn) rs121918614 0.00001
NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His) rs281865068 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.1263+5G>T rs587778784 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.446+1G>A rs587778797 0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter) rs72551315 0.00001
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter) rs72551316 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_000787.4(DBH):c.1409C>T (p.Thr470Ile) rs770407025 0.00001
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NM_001008216.2(GALE):c.280G>A (p.Val94Met) rs121908047 0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp) rs137853860 0.00001
NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter) rs118204042 0.00001
NM_001017420.3(ESCO2):c.1131+1G>A rs80359861 0.00001
NM_001017420.3(ESCO2):c.1354-18G>A rs80359865 0.00001
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter) rs80359849 0.00001
NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln) rs121908007 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001048166.1(STIL):c.2957A>G (p.His986Arg) rs199422205 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001079.4(ZAP70):c.1079G>C (p.Arg360Pro) rs869025224 0.00001
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys) rs113994174 0.00001
NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp) rs199840952 0.00001
NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs) rs771552960 0.00001
NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg) rs370356566 0.00001
NM_001110219.3(GJB6):c.14C>T (p.Thr5Met) rs104894414 0.00001
NM_001114134.2(EPB42):c.830C>T (p.Thr277Ile) rs515726211 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter) rs137852970 0.00001
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro) rs137852971 0.00001
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter) rs587777606 0.00001
NM_001123385.2(BCOR):c.254C>T (p.Pro85Leu) rs121434618 0.00001
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581 0.00001
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs) rs1156805286 0.00001
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959 0.00001
NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser) rs886039239 0.00001
NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg) rs281865550 0.00001
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489 0.00001
NM_001166114.2(PNPLA6):c.3104C>T (p.Ser1035Leu) rs541098659 0.00001
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln) rs886041516 0.00001
NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter) rs515726134 0.00001
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) rs760474458 0.00001
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) rs483352866 0.00001
NM_001242896.3(DEPDC5):c.1265G>A (p.Arg422Gln) rs886039277 0.00001
NM_001242896.3(DEPDC5):c.1454G>A (p.Arg485Gln) rs886039278 0.00001
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter) rs587777459 0.00001
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001242896.3(DEPDC5):c.268G>A (p.Val90Ile) rs768456731 0.00001
NM_001244008.2(KIF1A):c.2840del (p.Leu947fs) rs587778791 0.00001
NM_001256864.2(DNAJC6):c.2223A>T (p.Thr741=) rs879255554 0.00001
NM_001256864.2(DNAJC6):c.2687C>T (p.Thr896Met) rs200138922 0.00001
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile) rs786205137 0.00001
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys) rs748915609 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) rs775440641 0.00001
NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp) rs1291061962 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001330260.2(SCN8A):c.2003C>T (p.Thr668Ile) rs758253791 0.00001
NM_001358921.2(COQ2):c.1009C>T (p.Arg337Ter) rs751185256 0.00001
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn) rs199422249 0.00001
NM_001363118.2(SLC52A2):c.1258G>A (p.Ala420Thr) rs368924997 0.00001
NM_001363118.2(SLC52A2):c.155C>T (p.Ser52Phe) rs397514657 0.00001
NM_001363118.2(SLC52A2):c.368T>C (p.Leu123Pro) rs397514538 0.00001
NM_001363118.2(SLC52A2):c.914A>G (p.Tyr305Cys) rs398123068 0.00001
NM_001363118.2(SLC52A2):c.92G>C (p.Trp31Ser) rs797045199 0.00001
NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter) rs121908427 0.00001
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267 0.00001
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter) rs118203974 0.00001
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter) rs515726137 0.00001
NM_001374385.1(ATP8B1):c.625C>A (p.Pro209Thr) rs515726138 0.00001
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807 0.00001
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys) rs515726208 0.00001
NM_001384732.1(CPLANE1):c.7400+1G>A rs367543062 0.00001
NM_001386393.1(PANK2):c.1083-1G>T rs148987163 0.00001
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys) rs1555787646 0.00001
NM_001457.4(FLNB):c.2452C>T (p.Arg818Ter) rs80356519 0.00001
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter) rs80356520 0.00001
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro) rs587777316 0.00001
NM_001759.4(CCND2):c.841C>T (p.Pro281Ser) rs587777621 0.00001
NM_001759.4(CCND2):c.842C>T (p.Pro281Leu) rs587777622 0.00001
NM_001759.4(CCND2):c.851T>G (p.Val284Gly) rs777786993 0.00001
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter) rs374669775 0.00001
NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val) rs80356783 0.00001
NM_001876.4(CPT1A):c.1069C>T (p.Arg357Trp) rs80356777 0.00001
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) rs80356780 0.00001
NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys) rs80356775 0.00001
NM_001953.5(TYMP):c.1159G>A (p.Gly387Ser) rs1060499534 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) rs1064792861 0.00001
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser) rs121913038 0.00001
NM_001953.5(TYMP):c.760A>C (p.Thr254Pro) rs1064792870 0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) rs121913042 0.00001
NM_001953.5(TYMP):c.865G>A (p.Glu289Lys) rs946234163 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_002047.4(GARS1):c.332C>T (p.Ala111Val) rs370531212 0.00001
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln) rs104894809 0.00001
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) rs797044590 0.00001
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786 0.00001
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) rs63751294 0.00001
NM_002381.5(MATN3):c.659T>C (p.Val220Ala) rs187943382 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His) rs80338827 0.00001
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920 0.00001
NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp) rs397509382 0.00001
NM_002693.3(POLG):c.695G>A (p.Arg232His) rs113994093 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002775.5(HTRA1):c.821G>A (p.Arg274Gln) rs587776445 0.00001
NM_002775.5(HTRA1):c.889G>A (p.Val297Met) rs113993969 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002863.5(PYGL):c.1195C>T (p.Arg399Ter) rs113993978 0.00001
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu) rs113993986 0.00001
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp) rs113993975 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_003124.5(SPR):c.596-2A>G rs398122922 0.00001
NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu) rs13216733 0.00001
NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter) rs80338882 0.00001
NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr) rs80338884 0.00001
NM_003227.4(TFR2):c.2137-1G>A rs80338890 0.00001
NM_003227.4(TFR2):c.515T>A (p.Met172Lys) rs80338879 0.00001
NM_003332.4(TYROBP):c.141del (p.Met48fs) rs386833840 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003850.3(SUCLA2):c.534+1G>A rs113994161 0.00001
NM_003907.3(EIF2B5):c.337C>T (p.Arg113Cys) rs113994050 0.00001
NM_003907.3(EIF2B5):c.584G>A (p.Arg195His) rs113994054 0.00001
NM_003907.3(EIF2B5):c.925G>C (p.Val309Leu) rs113994061 0.00001
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) rs267606539 0.00001
NM_003977.4(AIP):c.721A>G (p.Lys241Glu) rs267606573 0.00001
NM_003977.4(AIP):c.783C>T (p.Tyr261=) rs267606576 0.00001
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 0.00001
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter) rs121908679 0.00001
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004260.4(RECQL4):c.2059-1G>A rs386833849 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp) rs137853232 0.00001
NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr) rs113994092 0.00001
NM_004366.6(CLCN2):c.2144G>A (p.Gly715Glu) rs137852681 0.00001
NM_004366.6(CLCN2):c.292G>C (p.Gly98Arg) rs863225249 0.00001
NM_004366.6(CLCN2):c.925C>T (p.Arg309Ter) rs863225250 0.00001
NM_004425.4(ECM1):c.507del (p.Arg171fs) rs869025565 0.00001
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His) rs1204519015 0.00001
NM_004519.4(KCNQ3):c.914A>G (p.Asp305Gly) rs118192248 0.00001
NM_004700.4(KCNQ4):c.725G>A (p.Trp242Ter) rs1648206560 0.00001
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) rs80358277 0.00001
NM_004750.5(CRLF1):c.676dup (p.Thr226fs) rs761746361 0.00001
NM_004795.4(KL):c.578A>G (p.His193Arg) rs121908423 0.00001
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) rs267606754 0.00001
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn) rs113994208 0.00001
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) rs746307931 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) rs1057519725 0.00001
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe) rs121913538 0.00001
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr) rs778325168 0.00001
NM_005120.3(MED12):c.2444G>A (p.Arg815Gln) rs762905361 0.00001
NM_005120.3(MED12):c.617G>A (p.Arg206Gln) rs2092288110 0.00001
NM_005247.4(FGF3):c.146A>G (p.Tyr49Cys) rs281860300 0.00001
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp) rs281860303 0.00001
NM_005259.3(MSTN):c.373+5G>A rs397515373 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005378.6(MYCN):c.-211C>T rs887665529 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005506.4(SCARB2):c.1187+2dup rs727502783 0.00001
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078 0.00001
NM_005506.4(SCARB2):c.704+1G>A rs886041076 0.00001
NM_005506.4(SCARB2):c.704+5G>A rs774271963 0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118 0.00001
NM_005609.4(PYGM):c.1289C>T (p.Ser430Leu) rs1212604 0.00001
NM_005609.4(PYGM):c.1365C>T (p.Gly455=) rs1056780 0.00001
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) rs119103252 0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259 0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile) rs1131692170 0.00001
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) rs119483085 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) rs104894093 0.00001
NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn) rs764260414 0.00001
NM_006412.4(AGPAT2):c.493-1G>C rs606231168 0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083 0.00001
NM_006432.5(NPC2):c.115G>A (p.Val39Met) rs80358261 0.00001
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) rs80358263 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg) rs80358264 0.00001
NM_006502.3(POLH):c.725C>G (p.Ser242Ter) rs745778317 0.00001
NM_006502.3(POLH):c.764+1G>A rs772570523 0.00001
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His) rs1598820860 0.00001
NM_006949.4(STXBP2):c.193C>T (p.Arg65Trp) rs758188545 0.00001
NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn) rs267608673 0.00001
NM_007055.4(POLR3A):c.1301dup (p.Tyr434Ter) rs1376632879 0.00001
NM_007055.4(POLR3A):c.169G>A (p.Asp57Asn) rs779315061 0.00001
NM_007055.4(POLR3A):c.1795C>A (p.Gln599Lys) rs1190946400 0.00001
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys) rs755165065 0.00001
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670 0.00001
NM_007055.4(POLR3A):c.2542T>C (p.Phe848Leu) rs1211210077 0.00001
NM_007055.4(POLR3A):c.3407G>A (p.Arg1136Gln) rs763270865 0.00001
NM_007055.4(POLR3A):c.3718G>A (p.Gly1240Ser) rs1003620056 0.00001
NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr) rs267608680 0.00001
NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter) rs267608678 0.00001
NM_007055.4(POLR3A):c.496G>A (p.Val166Ile) rs370515749 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val) rs80356730 0.00001
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser) rs80356719 0.00001
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val) rs80356721 0.00001
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185 0.00001
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) rs80356758 0.00001
NM_012472.6(DNAAF11):c.220G>C (p.Ala74Pro) rs397514596 0.00001
NM_012472.6(DNAAF11):c.598_599del (p.Lys200fs) rs397515424 0.00001
NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter) rs63751048 0.00001
NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter) rs80338721 0.00001
NM_014251.3(SLC25A13):c.1177+1G>A rs80338722 0.00001
NM_014251.3(SLC25A13):c.1311+1G>A rs80338723 0.00001
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) rs80338725 0.00001
NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter) rs80338726 0.00001
NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys) rs80338727 0.00001
NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter) rs80338716 0.00001
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln) rs104894431 0.00001
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter) rs368778231 0.00001
NM_014297.5(ETHE1):c.375+5G>A rs769259233 0.00001
NM_014297.5(ETHE1):c.3G>T (p.Met1Ile) rs119103249 0.00001
NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg) rs387906987 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014491.4(FOXP2):c.1789A>C (p.Asn597His) rs766476648 0.00001
NM_014727.3(KMT2B):c.5336G>A (p.Arg1779Gln) rs779863547 0.00001
NM_015166.4(MLC1):c.178-10T>A rs80358243 0.00001
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu) rs80358245 0.00001
NM_015166.4(MLC1):c.925C>A (p.Leu309Met) rs80358240 0.00001
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met) rs398123036 0.00001
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys) rs749627411 0.00001
NM_015474.4(SAMHD1):c.1411-2A>G rs515726141 0.00001
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter) rs121434519 0.00001
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro) rs121434520 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 0.00001
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His) rs369035155 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516 0.00001
NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs) rs515726146 0.00001
NM_015488.5(PNKD):c.97G>C (p.Ala33Pro) rs121434513 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln) rs544674332 0.00001
NM_015713.5(RRM2B):c.253_255del (p.Glu85del) rs515726184 0.00001
NM_015713.5(RRM2B):c.328C>T (p.Arg110Cys) rs515726186 0.00001
NM_015713.5(RRM2B):c.362G>A (p.Arg121His) rs267607024 0.00001
NM_015713.5(RRM2B):c.391G>A (p.Glu131Lys) rs515726188 0.00001
NM_015713.5(RRM2B):c.431C>T (p.Thr144Ile) rs515726189 0.00001
NM_015713.5(RRM2B):c.556A>G (p.Arg186Gly) rs515726190 0.00001
NM_015713.5(RRM2B):c.632G>A (p.Arg211Lys) rs515726195 0.00001
NM_015713.5(RRM2B):c.97C>T (p.Pro33Ser) rs387906892 0.00001
NM_016035.5(COQ4):c.190C>T (p.Pro64Ser) rs766317663 0.00001
NM_016035.5(COQ4):c.421C>T (p.Arg141Ter) rs775607037 0.00001
NM_016038.4(SBDS):c.377G>C (p.Arg126Thr) rs113993995 0.00001
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) rs113993996 0.00001
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter) rs113993998 0.00001
NM_016103.4(SAR1B):c.537T>A (p.Ser179Arg) rs28942110 0.00001
NM_016180.5(SLC45A2):c.563G>T (p.Gly188Val) rs1177355814 0.00001
NM_016222.4(DDX41):c.121C>T (p.Gln41Ter) rs746278774 0.00001
NM_016222.4(DDX41):c.455T>G (p.Val152Gly) rs758775538 0.00001
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg) rs746166328 0.00001
NM_016222.4(DDX41):c.776A>G (p.Tyr259Cys) rs139780256 0.00001
NM_016938.5(EFEMP2):c.1226G>A (p.Arg409Gln) rs61893867 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) rs193302864 0.00001
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys) rs1247438528 0.00001
NM_017671.5(FERMT1):c.862C>T (p.Arg288Ter) rs121918294 0.00001
NM_018082.6(POLR3B):c.1253C>T (p.Ala418Val) rs2037453602 0.00001
NM_018082.6(POLR3B):c.1324C>T (p.Arg442Cys) rs1442212683 0.00001
NM_018082.6(POLR3B):c.1464+1G>A rs1158662109 0.00001
NM_018082.6(POLR3B):c.1857-2A>C rs267608686 0.00001
NM_018082.6(POLR3B):c.1900G>A (p.Asp634Asn) rs781671613 0.00001
NM_018082.6(POLR3B):c.1999G>A (p.Val667Met) rs756536922 0.00001
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys) rs371453512 0.00001
NM_018082.6(POLR3B):c.2570+1G>A rs753943393 0.00001
NM_018082.6(POLR3B):c.3035T>C (p.Leu1012Pro) rs749670593 0.00001
NM_018082.6(POLR3B):c.308G>A (p.Arg103His) rs780148992 0.00001
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161 0.00001
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter) rs199422168 0.00001
NM_018136.5(ASPM):c.8668C>T (p.Gln2890Ter) rs199422181 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter) rs199422195 0.00001
NM_018206.6(VPS35):c.1520A>T (p.Tyr507Phe) rs1555465749 0.00001
NM_018206.6(VPS35):c.1570C>T (p.Arg524Trp) rs184277092 0.00001
NM_018206.6(VPS35):c.1679T>C (p.Ile560Thr) rs760128592 0.00001
NM_018206.6(VPS35):c.171G>A (p.Met57Ile) rs183554824 0.00001
NM_018249.6(CDK5RAP2):c.4103C>T (p.Ser1368Phe) rs41309342 0.00001
NM_018249.6(CDK5RAP2):c.764C>T (p.Ser255Leu) rs35199933 0.00001
NM_018297.4(NGLY1):c.930C>T (p.Gly310=) rs745814294 0.00001
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925 0.00001
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter) rs104893998 0.00001
NM_018965.4(TREM2):c.377T>G (p.Val126Gly) rs121908402 0.00001
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter) rs747150601 0.00001
NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser) rs1057519343 0.00001
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys) rs119468008 0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) rs119468005 0.00001
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter) rs515726136 0.00001
NM_020381.4(PDSS2):c.964C>T (p.Gln322Ter) rs118203955 0.00001
NM_020533.3(MCOLN1):c.1406A>G (p.Asn469Ser) rs797044818 0.00001
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro) rs767122713 0.00001
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) rs104894342 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs) rs386134181 0.00001
NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter) rs121908137 0.00001
NM_021083.4(XK):c.508+5G>A rs534318896 0.00001
NM_021252.5(RAB18):c.284C>G (p.Thr95Arg) rs587777151 0.00001
NM_021625.5(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156 0.00001
NM_021625.5(TRPV4):c.2198G>A (p.Trp733Ter) rs200757159 0.00001
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys) rs267607146 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter) rs267606866 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly) rs672601361 0.00001
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile) rs80356544 0.00001
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) rs369588002 0.00001
NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser) rs672601360 0.00001
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr) rs80356542 0.00001
NM_021926.4(ALX4):c.653G>A (p.Arg218Gln) rs104894193 0.00001
NM_022336.4(EDAR):c.338G>A (p.Cys113Tyr) rs1475705727 0.00001
NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) rs121908359 0.00001
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) rs281864969 0.00001
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278 0.00001
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654 0.00001
NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu) rs137852900 0.00001
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026 0.00001
NM_024312.5(GNPTAB):c.1402T>A (p.Cys468Ser) rs281864979 0.00001
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980 0.00001
NM_024312.5(GNPTAB):c.2715+1G>A rs281865031 0.00001
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009 0.00001
NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter) rs137852896 0.00001
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter) rs142065232 0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897 0.00001
NM_024312.5(GNPTAB):c.44C>A (p.Ser15Tyr) rs281864947 0.00001
NM_024339.5(THOC6):c.136G>A (p.Gly46Arg) rs587777030 0.00001
NM_024339.5(THOC6):c.259C>T (p.Arg87Ter) rs763344375 0.00001
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932 0.00001
NM_024580.6(EFL1):c.2645T>A (p.Met882Lys) rs1316615934 0.00001
NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter) rs121434305 0.00001
NM_024598.4(USB1):c.243G>A (p.Trp81Ter) rs137853973 0.00001
NM_024598.4(USB1):c.673C>T (p.Gln225Ter) rs1459714680 0.00001
NM_024876.4(COQ8B):c.101G>A (p.Trp34Ter) rs1057519345 0.00001
NM_025137.4(SPG11):c.1457-2A>G rs312262726 0.00001
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter) rs312262728 0.00001
NM_025137.4(SPG11):c.2316+1G>A rs312262740 0.00001
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) rs312262759 0.00001
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter) rs312262767 0.00001
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter) rs200793464 0.00001
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs) rs312262775 0.00001
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter) rs312262785 0.00001
NM_025137.4(SPG11):c.7152-1G>C rs200079802 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) rs763220502 0.00001
NM_030777.4(SLC2A10):c.1334G>A (p.Gly445Glu) rs753723351 0.00001
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) rs756457861 0.00001
NM_030777.4(SLC2A10):c.737G>A (p.Gly246Glu) rs564317065 0.00001
NM_032229.3(SLITRK6):c.541C>T (p.Arg181Ter) rs587777071 0.00001
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter) rs193302848 0.00001
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser) rs137852885 0.00001
NM_032581.4(HYCC1):c.51+1G>A rs72549405 0.00001
NM_033028.5(BBS4):c.17T>C (p.Val6Ala) rs113994185 0.00001
NM_033028.5(BBS4):c.18C>T (p.Val6=) rs113994187 0.00001
NM_033028.5(BBS4):c.20C>T (p.Ala7Val) rs113994186 0.00001
NM_033028.5(BBS4):c.42A>G (p.Val14=) rs113994181 0.00001
NM_033028.5(BBS4):c.91A>G (p.Ile31Val) rs113994182 0.00001
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys) rs267606686 0.00001
NM_033409.4(SLC52A3):c.1296C>A (p.Cys432Ter) rs758570021 0.00001
NM_033409.4(SLC52A3):c.160G>A (p.Gly54Arg) rs797045191 0.00001
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys) rs267606683 0.00001
NM_033409.4(SLC52A3):c.224T>C (p.Ile75Thr) rs797045193 0.00001
NM_033409.4(SLC52A3):c.710C>T (p.Ala237Val) rs773916730 0.00001
NM_033409.4(SLC52A3):c.935C>T (p.Ala312Val) rs752218005 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) rs76224909 0.00001
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568 0.00001
NM_054012.4(ASS1):c.257G>A (p.Arg86His) rs575001023 0.00001
NM_054012.4(ASS1):c.773+49C>T rs763389916 0.00001
NM_054012.4(ASS1):c.851C>T (p.Thr284Ile) rs886039853 0.00001
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp) rs121908642 0.00001
NM_054012.4(ASS1):c.970+5G>A rs372128852 0.00001
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg) rs80338772 0.00001
NM_138387.4(G6PC3):c.210del (p.Phe71fs) rs769441127 0.00001
NM_138387.4(G6PC3):c.758G>A (p.Arg253His) rs118203968 0.00001
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) rs113994137 0.00001
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg) rs752298579 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_172107.4(KCNQ2):c.1203T>C (p.Ser401=) rs756007198 0.00001
NM_172107.4(KCNQ2):c.1382A>C (p.Gln461Pro) rs1057516116 0.00001
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter) rs118192236 0.00001
NM_172107.4(KCNQ2):c.1956G>A (p.Pro652=) rs749070370 0.00001
NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu) rs12481082 0.00001
NM_172107.4(KCNQ2):c.740C>A (p.Ser247Ter) rs74315392 0.00001
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln) rs864309731 0.00001
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846 0.00001
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472 0.00001
NM_172250.3(MMAA):c.733+1G>A rs779939886 0.00001
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) rs571038432 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_175875.5(SIX5):c.1093G>A (p.Gly365Arg) rs80356463 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
NM_182476.3(COQ6):c.1235A>G (p.Tyr412Cys) rs374270071 0.00001
NM_182476.3(COQ6):c.564G>A (p.Trp188Ter) rs1057519349 0.00001
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys) rs137852852 0.00001
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846 0.00001
NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter) rs397515582 0.00001
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586 0.00001
NM_194248.3(OTOF):c.2991+1G>A rs80356594 0.00001
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter) rs199848801 0.00001
NM_194248.3(OTOF):c.4157C>T (p.Thr1386Ile) rs397515600 0.00001
NM_194248.3(OTOF):c.4819C>T (p.Arg1607Trp) rs397515603 0.00001
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys) rs397515605 0.00001
NM_194248.3(OTOF):c.5567G>A (p.Arg1856Gln) rs397515608 0.00001
NM_194248.3(OTOF):c.5712+1G>A rs80356604 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) rs199422301 0.00001
NM_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666 0.00001
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp) rs199422304 0.00001
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser) rs764160563 0.00001
NM_198576.4(AGRN):c.5611G>A (p.Gly1871Arg) rs763818876 0.00001
NM_198578.4(LRRK2):c.1096G>A (p.Val366Met) rs113065049 0.00001
NM_198578.4(LRRK2):c.1630A>G (p.Lys544Glu) rs79996249 0.00001
NM_198578.4(LRRK2):c.1847A>G (p.Lys616Arg) rs281865042 0.00001
NM_198578.4(LRRK2):c.2611A>G (p.Lys871Glu) rs281865044 0.00001
NM_198578.4(LRRK2):c.2830G>T (p.Asp944Tyr) rs17519916 0.00001
NM_198578.4(LRRK2):c.4322G>A (p.Arg1441His) rs34995376 0.00001
NM_198578.4(LRRK2):c.4337C>T (p.Pro1446Leu) rs74681492 0.00001
NM_198578.4(LRRK2):c.4448G>A (p.Arg1483Gln) rs113431708 0.00001
NM_198578.4(LRRK2):c.5174G>A (p.Arg1725Gln) rs72547979 0.00001
NM_198578.4(LRRK2):c.6035T>C (p.Ile2012Thr) rs34015634 0.00001
NM_198578.4(LRRK2):c.6091A>T (p.Thr2031Ser) rs78029637 0.00001
NM_198578.4(LRRK2):c.691T>C (p.Ser231Pro) rs201332859 0.00001
NM_198578.4(LRRK2):c.713A>T (p.Asn238Ile) rs28365216 0.00001
NM_198578.4(LRRK2):c.7397T>A (p.Leu2466His) rs281865057 0.00001
NM_198578.4(LRRK2):c.7435A>G (p.Asn2479Asp) rs55633591 0.00001
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575 0.00001
NM_199242.3(UNC13D):c.117+143A>G rs931794659 0.00001
NM_199242.3(UNC13D):c.1596+1G>C rs933702160 0.00001
NM_199242.3(UNC13D):c.754-1G>C rs753990040 0.00001
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp) rs80338756 0.00001
NM_203290.4(POLR1C):c.281T>C (p.Val94Ala) rs1305006253 0.00001
NM_207346.3(TSEN54):c.277T>C (p.Ser93Pro) rs113994151 0.00001
NM_207352.4(CYP4V2):c.1187C>T (p.Pro396Leu) rs199476202 0.00001
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter) rs199476204 0.00001
NM_207352.4(CYP4V2):c.253C>T (p.Arg85Cys) rs199476186 0.00001
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187 0.00001
NM_207352.4(CYP4V2):c.761A>G (p.His254Arg) rs199476193 0.00001
NM_207352.4(CYP4V2):c.974C>T (p.Thr325Ile) rs199476196 0.00001
NM_213595.4(ISCU):c.418+382G>C rs767000507 0.00001
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly) rs137854524 0.00001
NM_213599.3(ANO5):c.1407+5G>A rs281865464 0.00001
NR_001566.1(TERC):n.35C>T rs199422260 0.00001
NR_001566.1(TERC):n.450G>A rs199422287 0.00001
1 bp del G 7
15q13.3
16p11.2 recurrent region (BP4-BP5)
17q21.31 Microdeletion
1p36.33 deletion (0.48 Mb)
2q13 deletion (290 kb)
7q22-q31.3 deletion (15 Mb)
7q22-q31.33, 22 Mb deletion
7q31.1-q31.2, 1.57 Mb deletion
7q31.1-q31.2, 6.5 Mb deletion
7q31.1-q31.2, 9.1 Mb deletion
7q31.1-q31.3, 11 Mb deletion
7q31.1-q31.3, 14.8 Mb deletion
7q31.1-q31.3, 15 Mb deletion
7q31.1-q31.3, 16 Mb deletion
7q31.2-q32, 13 Mb deletion
7q31.2-q32, 14 Mb deletion
7q31.2-q32, 15 Mb deletion
7q31.2-q32, 26 Mb deletion
AF287270:g.511_6943del
GNPTAB:c.1895C>G
GRCh37/hg19 17q12(chr17:34815072-36192492)x1
GRCh37/hg19 3q29(chr3:195756054-197344665)x1
NC_000001.10:g.(155160963_155162030)delinsAT
NC_000001.10:g.(155160963_155162030)dupGCCGGCCCCGGGTCC
NC_000001.10:g.(155160963_155162030)insC
NC_000001.10:g.(155160963_155162030)insG
NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del
NC_000001.10:g.(?_145413072)_(145592772_145596903)del
NC_000001.10:g.227150977_227195656del44680
NC_000004.11:g.3076606GCA[40_?]
NC_000006.12:g.144176889_144196079del
NC_000007.12:g.111781517_120142536del
NC_000007.12:g.112946520_114520576del
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv
NC_000007.13:g.109049659_111130658del
NC_000007.14:g.(45018761_45019059)_(45095530_45095828)del
NC_000008.10:g.(?_6264113)_(6296618_6299587)del
NC_000008.11:g.100151617_100163589del
NC_000009.11:g.136496870_136496871(11_15) rs72191426
NC_000010.11:g.(93704377_?)_(?_93785620)del
NC_000012.12:g.(1_3750000)_(5250000_9000000)del
NC_000013.11:g.20365207_20496559del
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000016.10:g.172005_177200del
NC_000016.10:g.173384_177187del
NC_000017.11:g.(?_14440201)_(15475424_?)dup
NC_000017.11:g.3600934_3658165del
NC_000017.11:g.4902680_4903969delinsTCTGGATGCG
NC_000018.9(TXNL4A):g.77748604_77748637del34 rs786205699
NC_000018.9:g.73376178_78077248del4701071
NC_000018.9:g.76841645_78077248del1235604
NC_000018.9:g.76854774_78077248del1222475
NC_000018.9:g.77421290_77904990del483701
NC_000018.9:g.77733765C>A rs727502793
NC_000018.9:g.77748262delA rs727502795
NC_000018.9:g.77748356G>A rs727502794
NC_000018.9:g.77748581_77748614del34 rs535089924
NC_000019.10:g.35905884_35911125del
NC_000020.11:g.(36898545_36904156)_(36951644_?)del
NC_000020.11:g.(?_63413450)_(63415126_?)del
NC_000023.11:g.(129551601)_129559858del
NC_000023.11:g.(?_126549383)_(129592556_?)del
NC_000023.11:g.(?_49922616)_(50099235_?)del
NC_012920.1(MT-CO1):m.7023G>A rs2124593767
NC_012920.1(MT-CO3):m.9957T>C rs1556423753
NC_012920.1(MT-CYB):m.14864T>C
NC_012920.1(MT-CYB):m.1644G>A rs587776441
NC_012920.1(MT-ND5):m.13528A>G rs55882959
NC_012920.1(MT-TH):m.12146A>G rs2124597054
NC_012920.1(MT-TK):m.8316T>C
NC_012920.1(MT-TL2):m.12299A>C
NC_012920.1(MT-TV):m.1642G>A rs2124591032
NC_012920.1:m.10254G>A rs587776438
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.11984T>C rs200911567
NC_012920.1:m.13514A>G rs587776440
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.1494C>T rs267606619
NC_012920.1:m.1555A>G rs267606617
NC_012920.1:m.1644G>T rs587776441
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3291T>C rs869312463
NC_012920.1:m.3460G>A rs199476118
NC_012920.1:m.3481G>A rs587776433
NC_012920.1:m.3890G>A rs587776434
NC_012920.1:m.3928G>C rs587776442
NC_012920.1:m.5523T>G rs587776435
NC_012920.1:m.5559A>G rs1556423008
NC_012920.1:m.7443A>G rs397507452
NC_012920.1:m.7444G>A rs199474822
NC_012920.1:m.7445A>G rs199474818
NC_012920.1:m.7445A>T rs199474818
NC_012920.1:m.7462C>T rs1569484151
NC_012920.1:m.7471dup rs111033319
NC_012920.1:m.7505T>C rs724159989
NC_012920.1:m.8483_13459del4977
NC_012920.1:m.8839G>C rs1556423547
NC_012920.1:m.8851T>C rs199476136
NC_012920.1:m.8989G>C rs587776444
NC_012920.1:m.8993T>C rs199476133
NC_012920.1:m.8993T>G rs199476133
NC_012920.1:m.9176T>C rs199476135
NC_012920.1:m.9176T>G rs199476135
NC_012920.1:m.9185T>C rs199476138
NC_012920.1:m.9191T>C rs1556423632
NC_012920.1:m.9478T>C rs587776437
NG_007159.3:g.(?_162979)_(164232_?)del
NG_008075.1(MPV17):g.16680_18253delinsCCTG
NG_008254.1:g.48570_71295dup22726
NG_008638.1:g.(5550_9683)_(13328_22050)del
NG_011545.1(CSTB):g.4900_4935CCCCGCCCCGCG[30_125]
NG_012383.3:g.(70130_86397)_(87002_255549)del
NG_012383.3:g.(70130_86397)_(87002_255549)dup
NG_012383.3:g.(87002_255549)_(259980_?)del
NG_031977.1:g.(5321_5338)ins(60_?) rs143561967
NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro) rs63750218
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.4(PSEN1):c.265G>T (p.Val89Leu) rs63750815
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) rs63751399
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu) rs63750306
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe) rs63750577
NM_000021.4(PSEN1):c.548G>T (p.Gly183Val) rs63751068
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.4(PSEN1):c.767A>C (p.Tyr256Ser) rs63751320
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) rs63750231
NM_000021.4(PSEN1):c.869-1624_956-2452del
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.738G>A (p.Trp246Ter) rs121908528
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs) rs387906473
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs) rs387906472
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.324+1G>A rs764826805
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000041.4(APOE):c.497TCC[1] (p.Leu167del) rs515726148
NM_000044.4(AR):c.172_174CAG(36_37) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_000044.4(AR):c.172_174CAG(38_68) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_000044.4(AR):c.172_174CAG(7_34) (p.Gln66_Gln80del)
NM_000044.6(AR):c.171GCA[36] (p.Gln68_Gln80dup) rs3032358
NM_000044.6:c.1363GGT[2_4]GGC[12_29]
NM_000047.3(ARSL):c.410G>T (p.Gly137Val) rs80338711
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000048.4(ASL):c.346C>T (p.Gln116Ter) rs367543006
NM_000049.4(ASPA):c.433-2A>G rs63751297
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.4(ASPA):c.863A>G (p.Tyr288Cys)
NM_000050.4(ASS1):c.[323G>T];[970+5G>A]
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) rs267606673
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000069.3(CACNA1S):c.1582C>G (p.Arg528Gly) rs80338778
NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu) rs267606698
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) rs80338779
NM_000069.3(CACNA1S):c.2700G>T (p.Arg900Ser) rs2102582533
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1193+6T>A rs1555421532
NM_000070.3(CAPN3):c.1265A>G (p.Gln422Arg) rs2141193741
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.2051-1G>T rs886042108
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) rs1555423217
NM_000070.3(CAPN3):c.347C>A (p.Ala116Asp) rs2053335268
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.946-1G>A rs80338801
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met) rs193922136
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000081.2(LYST):c.7060_7066delCTATTAG rs80338661
NM_000081.3(LYST):c.9107_9162del (p.Gly3036Glufs)
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.10395del (p.Gly3466fs) rs80338670
NM_000081.4(LYST):c.11102G>T (p.Cys3701Phe)
NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)
NM_000081.4(LYST):c.118dup (p.Ala40fs) rs80338642
NM_000081.4(LYST):c.1467del (p.Glu489fs) rs80338644
NM_000081.4(LYST):c.148C>T (p.Arg50Ter) rs80338643
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter) rs80338645
NM_000081.4(LYST):c.1902dup (p.Ala635fs) rs80338646
NM_000081.4(LYST):c.2413del (p.Glu805fs) rs80338647
NM_000081.4(LYST):c.2454del (p.Ala819fs) rs80338648
NM_000081.4(LYST):c.2623del (p.Tyr875fs) rs80338649
NM_000081.4(LYST):c.3073_3074del (p.Asn1025fs) rs80338650
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.4(LYST):c.3434dup (p.His1145fs)
NM_000081.4(LYST):c.3622C>T (p.Gln1208Ter)
NM_000081.4(LYST):c.3944dup (p.Val1316fs)
NM_000081.4(LYST):c.4052C>G (p.Ser1351Ter) rs80338654
NM_000081.4(LYST):c.4274del (p.Leu1425fs) rs80338656
NM_000081.4(LYST):c.4361C>A (p.Ala1454Asp) rs80338655
NM_000081.4(LYST):c.4688G>A (p.Arg1563His) rs80338657
NM_000081.4(LYST):c.5061T>A (p.Tyr1687Ter) rs80338658
NM_000081.4(LYST):c.5317del (p.Arg1773fs) rs80338659
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
NM_000081.4(LYST):c.5541_5542del (p.Arg1848fs)
NM_000081.4(LYST):c.5996T>A (p.Val1999Asp) rs28942077
NM_000081.4(LYST):c.6078C>A (p.Tyr2026Ter) rs80338660
NM_000081.4(LYST):c.7555del (p.Tyr2519fs) rs80338662
NM_000081.4(LYST):c.772T>C (p.Cys258Arg)
NM_000081.4(LYST):c.7982C>G (p.Ser2661Ter)
NM_000081.4(LYST):c.8281A>T (p.Arg2761Ter)
NM_000081.4(LYST):c.8428G>A (p.Glu2810Lys) rs80338663
NM_000081.4(LYST):c.8583G>A (p.Trp2861Ter) rs80338664
NM_000081.4(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077delinsPhePheGlnTer) rs80338666
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
NM_000081.4(LYST):c.9590del (p.Tyr3197fs) rs80338667
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
NM_000081.4(LYST):c.9893del (p.Phe3298fs) rs80338668
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) rs80356694
NM_000083.3(CLCN1):c.2330del (p.Gly777fs) rs80356707
NM_000083.3(CLCN1):c.382A>G (p.Met128Val) rs80356699
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.4(COL7A1):c.4919del (p.Gly1640fs) rs1057517722
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg) rs121912844
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) rs121912836
NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del) rs2145902176
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) rs1601054715
NM_000095.3(COMP):c.1156_1158del (p.Asn386del) rs397515510
NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del) rs193922900
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup) rs193922900
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys) rs137852654
NM_000095.3(COMP):c.1586C>T (p.Thr529Ile) rs312262903
NM_000095.3(COMP):c.1665C>A (p.Asn555Lys) rs397515511
NM_000095.3(COMP):c.1747G>A (p.Glu583Lys) rs312262899
NM_000095.3(COMP):c.1754C>A (p.Thr585Lys) rs312262900
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg) rs312262900
NM_000095.3(COMP):c.1754C>T (p.Thr585Met) rs312262900
NM_000095.3(COMP):c.1760A>G (p.His587Arg) rs312262901
NM_000095.3(COMP):c.1813G>A (p.Asp605Asn) rs397515512
NM_000095.3(COMP):c.2042C>G (p.Ser681Cys) rs397515513
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp) rs28936368
NM_000095.3(COMP):c.2153G>C (p.Arg718Pro) rs149551600
NM_000095.3(COMP):c.2155G>A (p.Gly719Ser) rs312262904
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp) rs137852655
NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs) rs386134138
NM_000096.4(CP):c.1123T>C (p.Tyr375His) rs386134128
NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer) rs386134144
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) rs386134145
NM_000096.4(CP):c.146+1G>A rs386134134
NM_000096.4(CP):c.1865-1G>A rs386134139
NM_000096.4(CP):c.1874G>A (p.Gly625Glu) rs386134129
NM_000096.4(CP):c.1918del (p.Asp640fs) rs386134146
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000096.4(CP):c.2068del (p.Asp690fs) rs386134148
NM_000096.4(CP):c.2131C>A (p.Gln711Lys) rs386134130
NM_000096.4(CP):c.2185del (p.Leu729fs) rs587777922
NM_000096.4(CP):c.2389del (p.Glu797fs) rs386134149
NM_000096.4(CP):c.2482del (p.Ala828fs) rs386134150
NM_000096.4(CP):c.2511dup (p.Gly838fs) rs386134151
NM_000096.4(CP):c.2554+1G>T rs386134140
NM_000096.4(CP):c.2603del (p.Gly868fs) rs386134152
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) rs121909579
NM_000096.4(CP):c.2675G>A (p.Gly892Glu) rs386134131
NM_000096.4(CP):c.2879-1G>A rs386134141
NM_000096.4(CP):c.2917dup (p.Thr973fs) rs386134154
NM_000096.4(CP):c.2953A>G (p.Met985Val) rs386134132
NM_000096.4(CP):c.2962G>A (p.Gly988Ser) rs386134133
NM_000096.4(CP):c.2991T>G (p.His997Gln) rs34394958
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.493C>G (p.Gln165Glu) rs386134122
NM_000096.4(CP):c.587C>G (p.Pro196Arg) rs386134124
NM_000096.4(CP):c.606dup (p.Asp203fs) rs386134143
NM_000096.4(CP):c.607+1G>A rs386134136
NM_000096.4(CP):c.650T>C (p.Phe217Ser) rs386134125
NM_000096.4(CP):c.82A>T (p.Ile28Phe) rs386134121
NM_000096.4(CP):c.848G>C (p.Trp283Ser) rs386134126
NM_000098.2(CPT2):c.[1238_1239delAG;1342T>C]
NM_000098.3(CPT2):c.1145G>A (p.Arg382Lys) rs515726176
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000098.3(CPT2):c.1737del (p.Ala578_Tyr579insTer) rs515726178
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000098.3(CPT2):c.1925_1937del (p.Lys642fs) rs515726179
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000098.3(CPT2):c.641T>C (p.Met214Thr) rs515726174
NM_000098.3(CPT2):c.983A>G (p.Asp328Gly) rs515726175
NM_000100.4(CSTB):c.168+2_168+19del rs312262707
NM_000100.4(CSTB):c.168+2_168+21delinsAA rs864309482
NM_000100.4(CSTB):c.168G>A (p.Lys56=) rs386833440
NM_000100.4(CSTB):c.169-2A>G rs386833441
NM_000100.4(CSTB):c.212A>C (p.Gln71Pro) rs121909346
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000100.4(CSTB):c.66G>A (p.Gln22=) rs386833443
NM_000101.4(CYBA):c.467C>A (p.Pro156Gln) rs104894515
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000113.3(TOR1A):c.40_45del (p.Ala14_Pro15del) rs886041098
NM_000113.3(TOR1A):c.581A>T (p.Asp194Val) rs886041099
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000113.3(TOR1A):c.934_937del (p.Arg312fs) rs80358234
NM_000113.3(TOR1A):c.966_983del (p.Phe323_Tyr328del) rs80358235
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln) rs121917734
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) rs121917830
NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter) rs121918116
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000133.4(F9):c.1151G>T (p.Arg384Leu) rs137852283
NM_000133.4(F9):c.223C>T (p.Arg75Ter) rs137852227
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000136.3(FANCC):c.165+1G>T rs794726668
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000137.4(FAH):c.103G>A (p.Ala35Thr) rs2142090724
NM_000137.4(FAH):c.424A>G (p.Arg142Gly) rs1420414848
NM_000137.4(FAH):c.607-6T>G rs80338896
NM_000137.4(FAH):c.698A>T (p.Asp233Val) rs80338897
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe) rs121918498
NM_000141.5(FGFR2):c.756_758delinsCTT (p.Pro253Phe) rs387907372
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000142.5(FGFR3):c.1043C>G (p.Ser348Cys) rs1044021305
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.5(FGFR3):c.1950G>T (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg) rs121913101
NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly) rs121913101
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys) rs121913103
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) rs121913103
NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys) rs121913103
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys) rs121913115
NM_000143.4(FH):c.1210G>T (p.Glu404Ter) rs797044974
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.302G>C (p.Arg101Pro) rs75086406
NM_000143.4(FH):c.905-1G>A rs797044973
NM_000146.4(FTL):c.439_442dup (p.His148fs) rs2122435944
NM_000146.4(FTL):c.442dup (p.His148fs) rs2122435950
NM_000146.4(FTL):c.458dup (p.His153fs) rs587776840
NM_000146.4(FTL):c.460dup (p.Arg154fs) rs2122436083
NM_000146.4(FTL):c.469_484dup (p.Leu162fs) rs398124640
NM_000146.4(FTL):c.498_499dup (p.Phe167fs) rs1114167274
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000152.5(GAA):c.2483_2646+1del rs1555603048
NM_000153.4(GALC):c.1472del (p.Lys491fs) rs771489305
NM_000153.4(GALC):c.560A>T (p.Asp187Val) rs997021099
NM_000153.4(GALC):c.953C>T (p.Pro318Leu)
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.2(GALT):c.[-1039_753del;820+50_*789delinsGAATAGACCCCA]
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
NM_000155.3(GALT):c.[652C>T;c.940A>G]
NM_000157.4(GBA1):c.1226A>C (p.Asn409Thr) rs76763715
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) rs80356768
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val) rs77369218
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu) rs77829017
NM_000157.4(GBA1):c.509G>T (p.Arg170Leu) rs80356763
NM_000158.4(GBE1):c.(992+1_993-1)_(1618+1_1619-1)del (p.Ser331Argfs)
NM_000158.4(GBE1):c.143+1G>A rs397515343
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1634A>G (p.His545Arg) rs137852889
NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter) rs137852890
NM_000158.4(GBE1):c.691+5G>C rs397515344
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000159.4(GCDH):c.541G>C (p.Glu181Gln) rs745852738
NM_000159.4(GCDH):c.553_570del (p.Gly185_Ser190del) rs1599614265
NM_000159.4(GCDH):c.91+5G>T rs952356983
NM_000162.5(GCK):c.1019+2T>G rs193929376
NM_000162.5(GCK):c.1133C>T (p.Ala378Val) rs193929374
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.5(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.790G>A (p.Gly264Ser) rs193929373
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.2284G>A (p.Gly762Arg) rs386833550
NM_000171.3(GLRA1):c.(?_-287)_697+?del
NM_000171.3(GLRA1):c.[1030C>T];[288G>T]
NM_000171.3(GLRA1):c.[1259G>A];[839G>A]
NM_000171.3(GLRA1):c.[298delC];[523A>G]
NM_000171.4(GLRA1):c.690C>A (p.Tyr230Ter) rs121918415
NM_000171.4(GLRA1):c.737G>A (p.Arg246Gln) rs281864916
NM_000171.4(GLRA1):c.777C>G (p.Ser259Arg) rs121918417
NM_000171.4(GLRA1):c.801G>C (p.Trp267Cys) rs281864917
NM_000171.4(GLRA1):c.815T>A (p.Ile272Asn) rs121918409
NM_000171.4(GLRA1):c.832C>A (p.Pro278Thr) rs121918413
NM_000171.4(GLRA1):c.862G>A (p.Val288Met) rs121918416
NM_000171.4(GLRA1):c.882G>C (p.Gln294His) rs121918411
NM_000171.4(GLRA1):c.892T>A (p.Ser298Thr) rs281864920
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln) rs121918408
NM_000171.4(GLRA1):c.896G>T (p.Arg299Leu) rs121918408
NM_000171.4(GLRA1):c.910A>G (p.Lys304Glu) rs121918412
NM_000171.4(GLRA1):c.920A>C (p.Tyr307Ser) rs121918410
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys) rs121918410
NM_000171.4(GLRA1):c.921del (p.Ser306_Tyr307insTer) rs281864921
NM_000179.3(MSH6):c.1614_1615delinsAG (p.Tyr538_Leu539delinsTer) rs267608049
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter) rs63750111
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs) rs267608121
NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs) rs386834239
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000187.4(HGD):c.1111dup (p.His371fs) rs397515516
NM_000187.4(HGD):c.175del (p.Ser59fs) rs397515517
NM_000187.4(HGD):c.342+1G>A rs397515518
NM_000187.4(HGD):c.360T>G (p.Cys120Trp) rs149165166
NM_000187.4(HGD):c.457dup (p.Asp153fs) rs397515346
NM_000187.4(HGD):c.899T>G (p.Val300Gly) rs120074170
NM_000193.4(SHH):c.1132_1140del (p.Ala378_Phe380del) rs397515376
NM_000193.4(SHH):c.1212_1226del (p.Asp405_Gly409del) rs587778786
NM_000193.4(SHH):c.1270C>G (p.Pro424Ala) rs104894048
NM_000193.4(SHH):c.263A>T (p.Asp88Val) rs104894050
NM_000193.4(SHH):c.298C>T (p.Gln100Ter) rs104894044
NM_000193.4(SHH):c.300G>C (p.Gln100His) rs587778792
NM_000193.4(SHH):c.313A>T (p.Lys105Ter) rs104894045
NM_000193.4(SHH):c.345C>A (p.Asn115Lys) rs267607047
NM_000193.4(SHH):c.349T>C (p.Trp117Arg) rs104894040
NM_000193.4(SHH):c.349T>G (p.Trp117Gly) rs104894040
NM_000193.4(SHH):c.38_45del (p.Val13fs) rs587778789
NM_000193.4(SHH):c.474C>G (p.Tyr158Ter) rs146990376
NM_000193.4(SHH):c.562G>C (p.Glu188Gln) rs587778799
NM_000193.4(SHH):c.585G>A (p.Ser195=) rs372353493
NM_000193.4(SHH):c.625C>T (p.Gln209Ter) rs587778803
NM_000193.4(SHH):c.671T>A (p.Val224Glu) rs104894042
NM_000193.4(SHH):c.6_9dup (p.Leu4fs) rs587778788
NM_000193.4(SHH):c.766G>T (p.Glu256Ter) rs104894051
NM_000193.4(SHH):c.788_808del (p.Arg263_Ala269del) rs397515375
NM_000193.4(SHH):c.850G>T (p.Glu284Ter) rs104894046
NM_000193.4(SHH):c.91G>A (p.Gly31Arg) rs28936675
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) rs387906504
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg) rs387906504
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys) rs111033618
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000207.2(INS):c.(?_-191)_(187_?)+1del
NM_000207.2(INS):c.-152C>A rs748749585
NM_000207.2(INS):c.-187_-164del rs1135401727
NM_000207.3(INS):c.*59A>G rs397515519
NM_000207.3(INS):c.-152C>G rs748749585
NM_000207.3(INS):c.-39A>C rs1554921033
NM_000207.3(INS):c.127T>G (p.Cys43Gly) rs80356666
NM_000207.3(INS):c.140G>T (p.Gly47Val) rs80356667
NM_000207.3(INS):c.143T>G (p.Phe48Cys) rs80356668
NM_000207.3(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000207.3(INS):c.268G>T (p.Gly90Cys) rs80356670
NM_000207.3(INS):c.287G>A (p.Cys96Tyr) rs80356671
NM_000207.3(INS):c.323A>G (p.Tyr108Cys) rs80356672
NM_000207.3(INS):c.3G>A (p.Met1Ile) rs397515521
NM_000207.3(INS):c.3G>T (p.Met1Ile) rs397515521
NM_000207.3(INS):c.71C>A (p.Ala24Asp) rs80356663
NM_000207.3(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000207.3(INS):c.94G>C (p.Gly32Arg) rs80356664
NM_000208.4(INSR):c.167T>C (p.Ile56Thr) rs1555689937
NM_000208.4(INSR):c.3003_3012delinsGGAAG (p.Ser1001fs) rs1555735951
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.492G>T (p.Glu164Asp) rs80356661
NM_000209.4(PDX1):c.532G>A (p.Glu178Lys) rs80356662
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly) rs387906777
NM_000214.3(JAG1):c.232T>C (p.Cys78Arg) rs1600196455
NM_000214.3(JAG1):c.232T>G (p.Cys78Gly) rs1600196455
NM_000214.3(JAG1):c.233G>A (p.Cys78Tyr) rs1555830957
NM_000214.3(JAG1):c.233G>C (p.Cys78Ser) rs1555830957
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_000217.3(KCNA1):c.1223T>C (p.Val408Ala) rs104894352
NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala) rs104894354
NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg) rs28933383
NM_000217.3(KCNA1):c.677C>T (p.Thr226Met) rs28933383
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000227.6(LAMA3):c.151dup (p.Val51fs) rs80356678
NM_000228.2(LAMB3):c.957_958ins77 (p.?)
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn) rs1057516210
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000249.4(MLH1):c.1039-2329_1409+827del
NM_000249.4(MLH1):c.112A>C (p.Asn38His) rs63750580
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.1558+1G>T rs267607832
NM_000249.4(MLH1):c.1667+2_1667+8delinsATTT rs587778938
NM_000249.4(MLH1):c.1731+2247_1897-402del
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1758dup (p.Met587fs) rs63749863
NM_000249.4(MLH1):c.1831_1832del (p.Ile611fs) rs63750150
NM_000249.4(MLH1):c.1865T>A (p.Leu622His) rs63750693
NM_000249.4(MLH1):c.2044_2045del (p.Met682fs) rs878853785
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter) rs63750978
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs) rs267607903
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.4(MLH1):c.2269dup (p.Ter757LeuextTer?) rs1553666143
NM_000249.4(MLH1):c.306+5G>A rs267607735
NM_000249.4(MLH1):c.392C>G (p.Ser131Ter) rs63749818
NM_000249.4(MLH1):c.454-1G>A rs193922370
NM_000249.4(MLH1):c.545+3A>G rs267607760
NM_000249.4(MLH1):c.589-2A>G rs267607767
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.1(MSH2):c.-823_1076+5984del
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1277-1180_1386+2226delinsCATTCTCTTTGAAAA
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs) rs1114167806
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg) rs63749993
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.3(MSH2):c.2185_2192delinsCCCT (p.Met729fs) rs2104378383
NM_000251.3(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.3(MSH2):c.[2635-3C>T;2635-5T>C]
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000255.4(MMUT):c.1097A>G (p.Asn366Ser) rs864309737
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro) rs864309738
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter) rs761773115
NM_000255.4(MMUT):c.284C>G (p.Pro95Arg) rs190834116
NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys) rs864309735
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser) rs121918258
NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn) rs864309736
NM_000255.4(MMUT):c.935G>T (p.Gly312Val) rs864309734
NM_000257.4(MYH7):c.4358T>C (p.Leu1453Pro) rs1246272841
NM_000257.4(MYH7):c.4679G>C (p.Arg1560Pro) rs730880806
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del) rs367543052
NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del) rs587779396
NM_000257.4(MYH7):c.5566G>A (p.Glu1856Lys) rs797044598
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp) rs367543053
NM_000260.4(MYO7A):c.223del (p.Asp75fs) rs876657415
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2311G>T (p.Ala771Ser) rs782384464
NM_000260.4(MYO7A):c.6557T>C (p.Leu2186Pro) rs876657417
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.529C>T (p.Arg177Trp) rs370523900
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs) rs4029402
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000276.3(OCRL):c.-165-?_*2286+?del
NM_000276.3(OCRL):c.-165-?_199+?del
NM_000276.3(OCRL):c.-165-?_238+?del
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp) rs137853846
NM_000276.4(OCRL):c.610_1244+348del
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000282.4(PCCA):c.1685C>G (p.Ser562Ter) rs202247816
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr) rs202247814
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr) rs202247815
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly) rs121964957
NM_000285.4(PEPD):c.1103T>G (p.Leu368Arg) rs797045185
NM_000285.4(PEPD):c.605C>T (p.Ser202Phe) rs267606943
NM_000285.4(PEPD):c.634G>C (p.Ala212Pro) rs747700126
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000288.4(PEX7):c.-45C>T rs267608252
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.653A>T (p.His218Leu) rs80338705
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser) rs80338706
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.289del (p.Tyr97fs) rs1597607713
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626
NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del) rs193922906
NM_000311.5(PRNP):c.154_177[6_13] rs193922906
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) rs74315401
NM_000311.5(PRNP):c.532G>A (p.Asp178Asn) rs74315403
NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) rs28933385
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser) rs80338785
NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly) rs80338785
NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys) rs80338785
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly) rs121908556
NM_000334.4(SCN4A):c.2065C>A (p.Leu689Ile) rs80338955
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val) rs80338960
NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu) rs121908553
NM_000334.4(SCN4A):c.4342C>A (p.Arg1448Ser) rs121908544
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys) rs121908544
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4343G>C (p.Arg1448Pro) rs121908545
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.664C>G (p.Arg222Gly)
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu) rs80338951
NM_000334.4(SCN4A):c.[4468T>C;4479G>A]
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile) rs199473118
NM_000335.5(SCN5A):c.3691C>T (p.Arg1231Trp) rs199473207
NM_000346.4(SOX9):c.1320C>A (p.Tyr440Ter) rs80338688
NM_000346.4(SOX9):c.1320C>G (p.Tyr440Ter) rs80338688
NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys) rs80356651
NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser) rs80356634
NM_000352.6(ABCC8):c.257T>C (p.Val86Ala) rs193929360
NM_000352.6(ABCC8):c.257T>G (p.Val86Gly) rs193929360
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr) rs193929369
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) rs80356637
NM_000352.6(ABCC8):c.394T>G (p.Phe132Val) rs80356637
NM_000352.6(ABCC8):c.404T>C (p.Leu135Pro) rs193929364
NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val) rs80356653
NM_000352.6(ABCC8):c.627C>A (p.Asp209Glu) rs80356640
NM_000352.6(ABCC8):c.631C>A (p.Gln211Lys) rs193929366
NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg) rs80356642
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro) rs1048095
NM_000370.3(TTPA):c.191A>G (p.Asp64Gly) rs397515523
NM_000370.3(TTPA):c.205-1G>T rs886040963
NM_000370.3(TTPA):c.303T>G (p.His101Gln) rs121917849
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000370.3(TTPA):c.530_531delinsGTAAGT (p.Lys177fs) rs1554605631
NM_000370.3(TTPA):c.548T>C (p.Leu183Pro) rs397515525
NM_000370.3(TTPA):c.552+2T>A rs886040964
NM_000370.3(TTPA):c.736G>C (p.Gly246Arg) rs397515526
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000374.5(UROD):c.578G>C (p.Arg193Pro) rs143823335
NM_000374.5(UROD):c.842G>A (p.Gly281Glu) rs121918057
NM_000375.3(UROS):c.-26-183G>A rs397515349
NM_000375.3(UROS):c.-26-197C>A rs397515351
NM_000375.3(UROS):c.139T>C (p.Ser47Pro) rs397515527
NM_000375.3(UROS):c.197C>T (p.Ala66Val) rs28941774
NM_000375.3(UROS):c.311C>T (p.Ala104Val) rs397515528
NM_000380.4(XPA):c.335_338delinsCATAAGAAA (p.Phe112_Met113delinsSerTer) rs886039226
NM_000381.4(MID1):c.1102C>T (p.Arg368Ter) rs2147287460
NM_000381.4(MID1):c.829C>T (p.Arg277Ter) rs1555895704
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000390.4(CHM):c.116+1G>T rs786204761
NM_000390.4(CHM):c.1218C>A (p.Cys406Ter) rs1556277815
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) rs587776746
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000397.4(CYBB):c.532A>C (p.Thr178Pro) rs151344497
NM_000397.4(CYBB):c.692A>C (p.Gln231Pro) rs151344498
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg) rs281865138
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr) rs104894160
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) rs281865139
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) rs104894158
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) rs72555390
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.495_497del (p.Leu166del) rs754077128
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) rs1559401428
NM_000410.4(HFE):c.502G>T (p.Glu168Ter) rs146519482
NM_000410.4(HFE):c.506G>A (p.Trp169Ter) rs797045145
NM_000414.4(HSD17B4):c.244G>T (p.Val82Phe)
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser) rs1554062352
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys) rs387906825
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) rs59151893
NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) rs59190510
NM_000424.4(KRT5):c.1649del (p.Gly550fs) rs61126080
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) rs57499817
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.7750-1713_7899-2153del
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000430.4(PAFAH1B1):c.*3G>T rs113994197
NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys) rs1555727942
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter) rs796065045
NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs) rs869312909
NM_000435.3(NOTCH3):c.6498_6577del (p.Ala2167fs) rs1555725043
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter) rs869312911
NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs) rs773656789
NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter) rs869312910
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) rs121908366
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) rs63750215
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) rs63749884
NM_000459.5(TEK):c.2690A>C (p.Tyr897Ser) rs80338909
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000481.4(AMT):c.125A>G (p.His42Arg) rs121964983
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) rs281865161
NM_000484.4(APP):c.2075C>G (p.Ala692Gly) rs63750671
NM_000484.4(APP):c.2078A>G (p.Glu693Gly) rs63751039
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000485.3(APRT):c.258_261dup (p.Lys88fs) rs281860265
NM_000485.3(APRT):c.407T>C (p.Met136Thr) rs28999113
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile) rs74315481
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs) rs80338823
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.3963-78_4242+577del
NM_000492.3(CFTR):c.54-5940_273+10250del
NM_000492.3:c.1210-12T[(5_9)]
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1210-12= rs1805177
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A]
NM_000500.9(CYP21A2):c.1482C>T (p.Ser494=) rs397515529
NM_000500.9(CYP21A2):c.17TGC[6] (p.Leu10dup) rs61338903
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs) rs387906510
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu) rs397515531
NM_000500.9(CYP21A2):c.844G>C (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000506.5(F2):c.1621C>T (p.Arg541Trp) rs886048338
NM_000506.5(F2):c.1787G>T (p.Arg596Leu) rs387907201
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg) rs1567509070
NM_000512.5(GALNS):c.29G>A (p.Trp10Ter) rs1967945316
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys) rs118204435
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys) rs137854532
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser) rs11554273
NM_000516.7(GNAS):c.601C>G (p.Arg201Gly) rs11554273
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000516.7(GNAS):c.679C>A (p.Gln227Lys) rs797045203
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg) rs121913494
NM_000516.7(GNAS):c.680A>T (p.Gln227Leu) rs121913494
NM_000516.7(GNAS):c.681G>T (p.Gln227His) rs137854533
NM_000517.4:c.[-2_-3delAC;-alpha3.7]
NM_000517.4:c.[339C>G;340_351delCTCCCCGCCGAG]
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.207C>G (p.Asn69Lys) rs111033601
NM_000517.6(HBA2):c.2T>C (p.Met1Thr) rs111033603
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.94_95del (p.Arg32fs) rs1057519637
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000518.4(HBB):c.-136C>G rs33994806
NM_000518.4(HBB):c.-137C>T rs33941377
NM_000518.4(HBB):c.-80T>A rs33980857
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.*6C>G rs34809925
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-142C>T rs34883338
NM_000518.5(HBB):c.-18C>G rs34135787
NM_000518.5(HBB):c.-29G>A rs34704828
NM_000518.5(HBB):c.-41del rs35352549
NM_000518.5(HBB):c.-50A>C rs34305195
NM_000518.5(HBB):c.-81A>G rs33981098
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.316-2A>C rs33914668
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.72T>A (p.Val24=) rs2133589317
NM_000525.4(KCNJ11):c.1001G>A (p.Gly334Asp) rs193929358
NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu) rs193929333
NM_000525.4(KCNJ11):c.103T>G (p.Phe35Val) rs193929333
NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg) rs80356610
NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro) rs80356611
NM_000525.4(KCNJ11):c.155A>G (p.Gln52Arg) rs193929337
NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser) rs80356613
NM_000525.4(KCNJ11):c.157G>C (p.Gly53Arg) rs80356613
NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp) rs80356615
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) rs80356616
NM_000525.4(KCNJ11):c.176T>G (p.Val59Gly) rs80356617
NM_000525.4(KCNJ11):c.497G>A (p.Cys166Tyr) rs80356618
NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe) rs80356618
NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu) rs80356620
NM_000525.4(KCNJ11):c.509A>G (p.Lys170Arg) rs80356621
NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn) rs80356622
NM_000525.4(KCNJ11):c.544A>G (p.Ile182Val) rs193929348
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) rs80356625
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.4(KCNJ11):c.602G>T (p.Arg201Leu) rs80356624
NM_000525.4(KCNJ11):c.755T>C (p.Val252Ala) rs193929352
NM_000525.4(KCNJ11):c.886A>C (p.Ile296Leu) rs193929353
NM_000525.4(KCNJ11):c.886A>G (p.Ile296Val) rs193929353
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys) rs193929355
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys) rs193929356
NM_000525.4(KCNJ11):c.997T>A (p.Phe333Ile) rs193929357
NM_000526.5(KRT14):c.356T>C (p.Met119Thr) rs28928893
NM_000526.5(KRT14):c.368A>G (p.Asn123Ser) rs60171927
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) rs60399023
NM_000526.5(KRT14):c.374G>A (p.Arg125His) rs58330629
NM_000528.4(MAN2B1):c.2165+1G>A rs80338679
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000530.6(MPZ):c.[241C>T;337G>T]
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr) rs281865122
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr) rs267607244
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.588dup (p.Met197fs) rs281865129
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000532.5(PCCB):c.1538_1540dup (p.Ala513_Arg514insPro) rs202247821
NM_000532.5(PCCB):c.280G>T (p.Gly94Ter) rs202247817
NM_000532.5(PCCB):c.335G>A (p.Gly112Asp) rs202247818
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro) rs202247819
NM_000532.5(PCCB):c.862G>A (p.Val288Ile) rs201984177
NM_000533.5(PLP1):c.453+159G>A rs1602383261
NM_000533.5(PLP1):c.453+164G>A rs1602383268
NM_000533.5(PLP1):c.454-312C>G rs1602383723
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.989-1G>T rs587780064
NM_000535.7(PMS2):c.989-296_1144+706del
NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg) rs118192126
NM_000540.3(RYR1):c.10817T>C (p.Leu3606Pro) rs118192127
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr) rs118192117
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.1280C>T (p.Ser427Leu) rs118192118
NM_000540.3(RYR1):c.12986C>A (p.Ala4329Asp) rs118192129
NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter) rs143849895
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro) rs118192131
NM_000540.3(RYR1):c.13891T>A (p.Tyr4631Asn) rs118192132
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys) rs118192133
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile) rs118192134
NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser) rs118192136
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro) rs118192138
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro) rs118192139
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro) rs118192179
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.3(RYR1):c.14440C>T (p.Leu4814Phe) rs118192142
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys) rs118192180
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val) rs118192143
NM_000540.3(RYR1):c.14572A>G (p.Asn4858Asp) rs118192144
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys) rs118192146
NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr) rs118192147
NM_000540.3(RYR1):c.14671G>C (p.Gly4891Arg) rs118192149
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.3(RYR1):c.14678G>C (p.Arg4893Pro) rs118192151
NM_000540.3(RYR1):c.14690G>T (p.Gly4897Val) rs118192148
NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu) rs118192183
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val) rs118192153
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly) rs118192184
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr) rs118192154
NM_000540.3(RYR1):c.14759C>A (p.Thr4920Asn) rs118192155
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser) rs118192156
NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1]) rs193922893
NM_000540.3(RYR1):c.14814C>G (p.Ile4938Met) rs118192159
NM_000540.3(RYR1):c.1534G>A (p.Glu512Lys) rs118192119
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter) rs367543055
NM_000540.3(RYR1):c.5495G>C (p.Gly1832Ala) rs193922784
NM_000540.3(RYR1):c.6104A>T (p.His2035Leu) rs367543056
NM_000540.3(RYR1):c.644G>A (p.Gly215Glu) rs118192115
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His) rs118192121
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr) rs118192123
NM_000540.3(RYR1):c.738T>G (p.Tyr246Ter) rs367543054
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp) rs193922820
NM_000540.3(RYR1):c.7648C>G (p.Leu2550Val) rs193922821
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys) rs118192125
NM_000540.3(RYR1):c.9000+1G>T rs111364670
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys) rs367543057
NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp) rs797044800
NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn) rs747342458
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) rs797044797
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.874C>A (p.Gln292Lys) rs797044799
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.3106T>C (p.Ser1036Pro) rs45517281
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser) rs45503995
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3923G>T (p.Arg1308Leu) rs61749388
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe) rs61750083
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000553.6(WRN):c.2089-3024A>G rs281865157
NM_000553.6(WRN):c.2179dup (p.Cys727fs) rs281865158
NM_000553.6(WRN):c.3139-1G>C rs113993961
NM_000553.6(WRN):c.3460-2A>C rs281865159
NM_000553.6(WRN):c.3590del (p.Asn1197fs) rs281865160
NM_000554.6(CRX):c.529del (p.Ala177fs) rs61748449
NM_000558.5(HBA1):c.207C>A (p.Asn69Lys) rs1060339
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000602.4(SERPINE1):c.-820_-817G(4_5) rs1799762
NM_000602.5(SERPINE1):c.356dup (p.Ile120fs) rs1554362148
NM_000602.5(SERPINE1):c.699_700dup (p.Thr234fs) rs1194865614
NM_000639.3(FASLG):c.203dup (p.Pro69fs) rs2101806549
NM_000639.3(FASLG):c.263del (p.Phe88fs) rs587776450
NM_000639.3(FASLG):c.473_556del (p.Met158_Glu185del) rs80358236
NM_000639.3(FASLG):c.605G>C (p.Cys202Ser) rs2101810634
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000660.7(TGFB1):c.241T>C (p.Tyr81His) rs111033611
NM_000660.7(TGFB1):c.30GCT[6] (p.Leu11_Leu13dup) rs281865483
NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) rs104894721
NM_000660.7(TGFB1):c.653G>A (p.Arg218His) rs104894720
NM_000660.7(TGFB1):c.664C>G (p.His222Asp) rs281865485
NM_000660.7(TGFB1):c.673T>C (p.Cys225Arg) rs104894719
NM_000702.4(ATP1A2):c.2291T>C (p.Leu764Pro) rs28933398
NM_000702.4(ATP1A2):c.2659T>C (p.Trp887Arg) rs28933399
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu) rs121918615
NM_000702.4(ATP1A2):c.901G>A (p.Gly301Arg) rs121918612
NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val) rs121912776
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser) rs80315385
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys) rs199473391
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr) rs797044881
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) rs794727587
NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn) rs104894063
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.7(CHRNA4):c.867GCT[3] (p.Leu291dup) rs281865067
NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1061A>G (p.Asp354Gly) rs72551320
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1185-1G>T rs587778779
NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg) rs587778780
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1222G>T (p.Glu408Ter) rs587778782
NM_000784.4(CYP27A1):c.1238T>A (p.Val413Asp) rs587778783
NM_000784.4(CYP27A1):c.1264-1G>A rs587778785
NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser) rs587778787
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.305del (p.Pro102fs) rs587778790
NM_000784.4(CYP27A1):c.355del (p.Arg119fs) rs587778793
NM_000784.4(CYP27A1):c.366= (p.Gly122=) rs1051087
NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs) rs587778794
NM_000784.4(CYP27A1):c.399G>A (p.Trp133Ter) rs1160640803
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg) rs587778795
NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu) rs72551313
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.583G>T (p.Glu195Ter) rs587778800
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs) rs587778802
NM_000784.4(CYP27A1):c.647-1G>T rs587778804
NM_000784.4(CYP27A1):c.73del (p.Ala25fs) rs587778807
NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter) rs587778808
NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter) rs587778810
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.819del (p.Asp273fs) rs587778812
NM_000784.4(CYP27A1):c.844+1G>A rs397515354
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=) rs587778814
NM_000784.4(CYP27A1):c.863del (p.Glu288fs) rs587778815
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_000787.4(DBH):c.1085C>A (p.Ala362Glu) rs75215331
NM_000787.4(DBH):c.1374+24T>G rs778042927
NM_000787.4(DBH):c.1667A>G (p.Tyr556Cys) rs863225246
NM_000787.4(DBH):c.342C>A (p.Asp114Glu) rs77576840
NM_000787.4(DBH):c.617del (p.Glu206fs) rs863225244
NM_000787.4(DBH):c.806G>T (p.Cys269Phe) rs863225245
NM_000824.5(GLRB):c.752G>A (p.Gly251Asp) rs121909749
NM_000890.5(KCNJ5):c.472A>G (p.Thr158Ala) rs387906778
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.271_282del (p.Ala91_Leu94del) rs797044841
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser) rs1555603968
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp) rs104894579
NM_000891.3(KCNJ2):c.966G>C (p.Trp322Cys) rs797044842
NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])
NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)])
NM_001007026.1(ATN1):c.1462CAG[49_55] (p.Gln488[49_55]) rs60216939
NM_001010892.3(RSPH4A):c.166dup (p.Arg56fs) rs797045147
NM_001010892.3(RSPH4A):c.921+3_921+6del rs869320683
NM_001011.4(RPS7):c.147+1G>A rs397507554
NM_001012339.3(DNAJC21):c.100A>G (p.Lys34Glu) rs1561180439
NM_001012339.3(DNAJC21):c.520C>T (p.Gln174Ter) rs1561183139
NM_001017420.3(ESCO2):c.1111_1112insG (p.Thr371fs) rs1554555716
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs) rs80359859
NM_001017420.3(ESCO2):c.1263+1G>C rs80359863
NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter) rs80359864
NM_001017420.3(ESCO2):c.1461_1462del (p.Arg487fs) rs80359866
NM_001017420.3(ESCO2):c.1597dup (p.Cys533fs) rs80359867
NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly) rs80359868
NM_001017420.3(ESCO2):c.1674-2A>G rs80359869
NM_001017420.3(ESCO2):c.252_253del (p.Ser85fs) rs80359844
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs) rs80359845
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs) rs80359846
NM_001017420.3(ESCO2):c.308_309del (p.Lys103fs) rs80359847
NM_001017420.3(ESCO2):c.417dup (p.Pro140fs) rs80359848
NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter) rs80359850
NM_001017420.3(ESCO2):c.745_746del (p.Val249fs) rs80359851
NM_001017420.3(ESCO2):c.751dup (p.Glu251fs) rs1554554098
NM_001017420.3(ESCO2):c.760del (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.760dup (p.Thr254fs) rs80359852
NM_001017420.3(ESCO2):c.764_765del (p.Phe255fs) rs80359855
NM_001017420.3(ESCO2):c.876_879del (p.Asp292fs) rs80359856
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs) rs80359857
NM_001017420.3(ESCO2):c.955+2_955+5del rs80359858
NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter) rs397515537
NM_001024630.4(RUNX2):c.1205dup (p.Pro403fs) rs730880314
NM_001024630.4(RUNX2):c.598A>G (p.Thr200Ala) rs104893993
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp) rs104893992
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) rs104893991
NM_001024630.4(RUNX2):c.674G>T (p.Arg225Leu) rs104893991
NM_001024630.4(RUNX2):c.90dup (p.Ser31fs) rs397515538
NM_001024845.3(SLC6A9):c.1000A>G (p.Ser334Gly) rs1057519313
NM_001024845.3(SLC6A9):c.1498C>T (p.Gln500Ter) rs1057519314
NM_001024845.3(SLC6A9):c.709_713del (p.Lys237fs) rs1057519315
NM_001031847.2(CPT1A):c.(?_1744)_2107del (p.Met582Glnfs)
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001032221.6(STXBP1):c.902+1G>A rs886041978
NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr) rs1565799723
NM_001032386.2(SUOX):c.1589G>A (p.Gly530Asp) rs121908009
NM_001032386.2(SUOX):c.520del (p.Asp174fs) rs1565798380
NM_001032386.2(SUOX):c.794C>A (p.Ala265Asp) rs121908008
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) rs121918605
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser) rs121918603
NM_001039958.1(MESP2):c.535GGGCAGGGGCAA[2_4] rs397507446
NM_001039958.2(MESP2):c.197C>G (p.Ala66Gly) rs71647809
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter) rs118204034
NM_001039958.2(MESP2):c.271A>G (p.Lys91Glu) rs113994156
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter) rs71647808
NM_001039958.2(MESP2):c.373C>G (p.Leu125Val) rs71647806
NM_001039958.2(MESP2):c.385A>T (p.Ile129Phe) rs113994157
NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs) rs113994158
NM_001039958.2(MESP2):c.670T>C (p.Ser224Pro) rs118204033
NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter) rs118204035
NM_001040138.2(CKLF):c.-7863_-2035delins[AC010542.7:g.65062_65110]
NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu) rs104894024
NM_001042432.2(CLN3):c.461-280_677+382del rs1555468634
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.5488C>A (p.Arg1830Ser) rs797045139
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly) rs797045139
NM_001042492.3(NF1):c.5489G>C (p.Arg1830Pro) rs771529172
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001048166.1(STIL):c.1262A>C (p.Gln421Pro) rs28472545
NM_001048166.1(STIL):c.1263A>C (p.Gln421His) rs28705368
NM_001048166.1(STIL):c.2829+1G>A rs199422206
NM_001048166.1(STIL):c.2858C>A (p.Ser953Tyr) rs199422204
NM_001048166.1(STIL):c.3658del (p.Leu1219_Val1220insTer) rs199422207
NM_001048166.1(STIL):c.3718C>T (p.Gln1240Ter) rs121918609
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp) rs113994150
NM_001079.4(ZAP70):c.1065C>T (p.Gly355=) rs201207626
NM_001079.4(ZAP70):c.1624-11G>A rs730880318
NM_001079.4(ZAP70):c.1714A>T (p.Met572Leu) rs113994175
NM_001079.4(ZAP70):c.239C>A (p.Pro80Gln) rs113994172
NM_001079.4(ZAP70):c.838-80G>A rs113994173
NM_001081563.1(DMPK):c.*224_*226CTG[(5-34)]
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823
NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu) rs121918543
NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter) rs121918543
NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser) rs121918545
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001099274.3(TINF2):c.847C>G (p.Pro283Ala) rs199422311
NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser) rs199422311
NM_001099274.3(TINF2):c.848C>A (p.Pro283His) rs199422313
NM_001099274.3(TINF2):c.849dup (p.Thr284fs) rs199422315
NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala) rs199422314
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro) rs199422316
NM_001099274.3(TINF2):c.862T>C (p.Phe288Leu) rs199422317
NM_001099274.3(TINF2):c.865_866delinsAG (p.Pro289Ser) rs199422318
NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly) rs199422319
NM_001099274.3(TINF2):c.892del (p.Gln298fs) rs199422320
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) rs782178147
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser) rs121909531
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp) rs367543049
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys) rs367543048
NM_001100.4(ACTA1):c.621G>C (p.Glu207Asp) rs367543050
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys) rs367543051
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val) rs121909529
NM_001101.5(ACTB):c.1090G>A (p.Glu364Lys) rs368352689
NM_001101.5(ACTB):c.359C>T (p.Thr120Ile) rs587779774
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001102564.3(IFT43):c.1A>G (p.Met1Val) rs387907107
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln) rs267606815
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110556.2(FLNA):c.2228A>C (p.His743Pro) rs2148115732
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
NM_001110556.2(FLNA):c.3552C>A (p.Asp1184Glu) rs80338837
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) rs387907371
NM_001110556.2(FLNA):c.67_68del (p.Thr23fs) rs80338840
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg) rs267606816
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) rs80338761
NM_001113491.2(SEPTIN9):c.332C>T (p.Ser111Phe) rs80338762
NM_001113491.2(SEPTIN9):c.76+12996G>C rs80338760
NM_001114134.2(EPB42):c.433G>T (p.Asp145Tyr) rs143682977
NM_001114134.2(EPB42):c.860del (p.Arg287fs) rs515726213
NM_001122630.2(CDKN1C):c.782T>G (p.Ile261Ser) rs515726203
NM_001122630.2(CDKN1C):c.793T>G (p.Phe265Val) rs387907223
NM_001122630.2(CDKN1C):c.794T>C (p.Phe265Ser) rs387907224
NM_001122630.2(CDKN1C):c.799A>G (p.Lys267Glu) rs387907226
NM_001122630.2(CDKN1C):c.802C>A (p.Arg268Ser) rs1848883206
NM_001122630.2(CDKN1C):c.803G>C (p.Arg268Pro) rs318240750
NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu) rs318240750
NM_001122630.2(CDKN1C):c.809G>T (p.Arg270Ile) rs886037912
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) rs121918324
NM_001122769.3(LCA5):c.1151del (p.Pro384fs) rs386834252
NM_001122769.3(LCA5):c.1476dup (p.Pro493fs) rs386834253
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter) rs137852974
NM_001122955.4(BSCL2):c.334C>T (p.Leu112Phe) rs1057517657
NM_001122955.4(BSCL2):c.346_347dup (p.Tyr117fs) rs1057517658
NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs) rs1057517659
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp) rs137852973
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) rs587777608
NM_001122955.4(BSCL2):c.766-2A>G rs1013079991
NM_001122955.4(BSCL2):c.863+5G>A rs786205072
NM_001122955.4(BSCL2):c.864-2A>G rs766061024
NM_001122955.4(BSCL2):c.864-3C>G rs786205073
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533
NM_001126121.2(SLC25A19):c.373G>A (p.Gly125Ser) rs387906944
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala) rs121908213
NM_001127222.2(CACNA1A):c.2142C>G (p.Asp714Glu) rs121908218
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu) rs121908237
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu) rs121908214
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg) rs121912713
NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe) rs55819880
NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu) rs28931568
NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn) rs28931572
NM_001127898.4(CLCN5):c.1025A>G (p.Tyr342Cys) rs273585644
NM_001127898.4(CLCN5):c.1044G>C (p.Leu348Phe) rs273585648
NM_001127898.4(CLCN5):c.1046G>A (p.Trp349Ter) rs797044809
NM_001127898.4(CLCN5):c.1230C>A (p.Asn410Lys) rs273585646
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter) rs797044810
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter) rs797044811
NM_001127898.4(CLCN5):c.1727G>A (p.Gly576Glu) rs151340625
NM_001127898.4(CLCN5):c.1747G>A (p.Gly583Arg) rs273585647
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp) rs797044812
NM_001127898.4(CLCN5):c.1847A>G (p.Lys616Arg) rs273585649
NM_001127898.4(CLCN5):c.1849T>G (p.Trp617Gly) rs273585650
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter) rs151340621
NM_001127898.4(CLCN5):c.2362C>T (p.Arg788Ter) rs797044814
NM_001127898.4(CLCN5):c.2393_2415del (p.Val798fs) rs797044815
NM_001127898.4(CLCN5):c.310C>T (p.Arg104Ter) rs797044808
NM_001127898.4(CLCN5):c.884T>C (p.Leu295Pro) rs273585645
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001127898.4(CLCN5):c.989G>T (p.Gly330Val) rs151340630
NM_001128178.3(NPHP1):c.80T>A (p.Leu27Ter) rs121907898
NM_001128425.1(MUTYH):c.348+33_*210delinsTA
NM_001128431.4(SLC39A14):c.1147G>A (p.Gly383Arg) rs879253766
NM_001128431.4(SLC39A14):c.1407C>G (p.Asn469Lys) rs750281602
NM_001128431.4(SLC39A14):c.292T>G (p.Phe98Val) rs879253763
NM_001128431.4(SLC39A14):c.313G>T (p.Glu105Ter) rs879253764
NM_001128431.4(SLC39A14):c.367C>T (p.Gln123Ter) rs1554519011
NM_001128431.4(SLC39A14):c.751-9C>G rs1039778197
NM_001130987.2(DYSF):c.3427del (p.Glu1143fs) rs2093189899
NM_001130987.2(DYSF):c.5785-824C>T rs1285082850
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_001135998.3(NDUFB11):c.372del (p.Arg124fs) rs876657384
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly) rs104894521
NM_001136472.2(LITAF):c.385G>A (p.Ala129Thr) rs797044847
NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr) rs281865135
NM_001136472.2(LITAF):c.403C>T (p.Pro135Ser) rs281865135
NM_001136472.2(LITAF):c.404C>G (p.Pro135Arg) rs797044848
NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr) rs281865549
NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu) rs281865547
NM_001146040.1(GLRA1):c.(?_-287)_(912+?)del
NM_001164508.2(NEB):c.7431+1919_7536+374del
NM_001164688.2(RD3):c.296+1G>A rs386834260
NM_001165963.4(SCN1A):c.787C>G (p.Leu263Val) rs2105890052
NM_001165967.2(HES7):c.73C>T (p.Arg25Trp) rs113994160
NM_001166114.2(PNPLA6):c.1705G>T (p.Gly569Trp) rs587777615
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val) rs121434415
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln) rs786201037
NM_001166114.2(PNPLA6):c.760G>A (p.Val254Ile) rs587777184
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) rs786205745
NM_001172509.2(SATB2):c.1142T>G (p.Val381Gly) rs1559174854
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1171C>T (p.Gln391Ter) rs1559174813
NM_001172509.2(SATB2):c.1186G>C (p.Glu396Gln) rs1559164403
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.1945dup (p.Ser649fs) rs1559136052
NM_001172509.2(SATB2):c.2018dup (p.His673fs) rs1559136015
NM_001172509.2(SATB2):c.2074G>T (p.Glu692Ter) rs1559135904
NM_001172509.2(SATB2):c.346+2T>G rs1559052017
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_001172509.2(SATB2):c.748C>T (p.Gln250Ter) rs1558995207
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter) rs797044874
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001182.5(ALDH7A1):c.696-502G>C rs2112786192
NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr) rs587777147
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001204747.1:c.132+2923_2927AAAAG[(12_200)]
NM_001204747.1:c.132+2923_2927AAAGG[(40_1000)]
NM_001204747.1:c.132+2923_2927AAGGG[(400_2000)]
NM_001204747.1:c.132+2923_2927ACAGG[(400_2000)]
NM_001232.4(CASQ2):c.539A>G (p.Lys180Arg) rs886039816
NM_001232.4(CASQ2):c.62del (p.Glu21fs) rs397507555
NM_001232.4(CASQ2):c.919G>C (p.Asp307His) rs121434549
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001242896.3(DEPDC5):c.1093_1099dup (p.Val367fs) rs886039258
NM_001242896.3(DEPDC5):c.1114C>T (p.Gln372Ter) rs886039259
NM_001242896.3(DEPDC5):c.1122del (p.Leu374fs) rs879255234
NM_001242896.3(DEPDC5):c.1218-13_1218-10del rs150103661
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242896.3(DEPDC5):c.132dup (p.Asn45fs) rs886039244
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.3(DEPDC5):c.1625A>C (p.Gln542Pro) rs886039279
NM_001242896.3(DEPDC5):c.1759C>T (p.Arg587Ter) rs886039263
NM_001242896.3(DEPDC5):c.193+1G>A rs886039245
NM_001242896.3(DEPDC5):c.2355-2A>G rs797044545
NM_001242896.3(DEPDC5):c.2390del (p.Gln797fs) rs886039264
NM_001242896.3(DEPDC5):c.2620C>T (p.Arg874Ter) rs578185749
NM_001242896.3(DEPDC5):c.279+1G>A rs886039246
NM_001242896.3(DEPDC5):c.3046C>T (p.Gln1016Ter) rs886039265
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter) rs587777458
NM_001242896.3(DEPDC5):c.3444del (p.Ile1148fs) rs886039266
NM_001242896.3(DEPDC5):c.3484A>G (p.Ser1162Gly) rs886039280
NM_001242896.3(DEPDC5):c.3696+5G>A rs886039267
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter) rs886039268
NM_001242896.3(DEPDC5):c.3803G>A (p.Arg1268Gln) rs886039281
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter) rs886039269
NM_001242896.3(DEPDC5):c.4107G>A (p.Trp1369Ter) rs587776975
NM_001242896.3(DEPDC5):c.4187del (p.Ala1396fs) rs886039271
NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242896.3(DEPDC5):c.435G>A (p.Trp145Ter) rs886039247
NM_001242896.3(DEPDC5):c.4397G>A (p.Trp1466Ter) rs886039273
NM_001242896.3(DEPDC5):c.4567C>T (p.Gln1523Ter) rs797044546
NM_001242896.3(DEPDC5):c.4606C>T (p.Gln1536Ter) rs886039274
NM_001242896.3(DEPDC5):c.484-1G>A rs886039249
NM_001242896.3(DEPDC5):c.489_491del (p.Phe164del) rs587776974
NM_001242896.3(DEPDC5):c.492_496del (p.Arg165fs) rs886039250
NM_001242896.3(DEPDC5):c.526C>T (p.Gln176Ter) rs886039251
NM_001242896.3(DEPDC5):c.56G>C (p.Ser19Thr) rs886039275
NM_001242896.3(DEPDC5):c.59-1G>C rs886039243
NM_001242896.3(DEPDC5):c.624+1G>A rs886039252
NM_001242896.3(DEPDC5):c.640C>G (p.His214Asp) rs886039276
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter) rs587776976
NM_001242896.3(DEPDC5):c.727C>T (p.Arg243Ter) rs772872014
NM_001242896.3(DEPDC5):c.730C>T (p.Gln244Ter) rs886039253
NM_001242896.3(DEPDC5):c.783_786del (p.Asn261fs) rs886039254
NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242896.3(DEPDC5):c.918C>G (p.Tyr306Ter) rs886039256
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977
NM_001242896.3(DEPDC5):c.985del (p.Thr329fs) rs886039257
NM_001244008.2(KIF1A):c.5271dup (p.Ser1758fs) rs587778798
NM_001256054.2(C9orf72):c.-45+163_-45+180GGGGCC(2_25)
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256864.2(DNAJC6):c.2038+3A>G rs961974767
NM_001256864.2(DNAJC6):c.2365C>T (p.Gln789Ter) rs2101635253
NM_001256864.2(DNAJC6):c.2410C>T (p.Gln804Ter) rs398122405
NM_001256864.2(DNAJC6):c.2416C>T (p.Arg806Ter) rs1646073230
NM_001256864.2(DNAJC6):c.2779A>G (p.Arg927Gly) rs879255630
NM_001256864.2(DNAJC6):c.766C>T (p.Arg256Ter) rs745630837
NM_001256864.2(DNAJC6):c.801-2A>G rs398122404
NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp) rs387906652
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) rs387906652
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
NM_001258392.3(CLPB):c.1366T>C (p.Cys456Arg) rs886041118
NM_001258392.3(CLPB):c.1595del (p.Ile532fs) rs876657402
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val) rs748010262
NM_001258392.3(CLPB):c.1825G>A (p.Glu609Lys) rs375934856
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val) rs759500860
NM_001258392.3(CLPB):c.1847dup (p.Cys617fs) rs886041119
NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn) rs886041120
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter) rs777202372
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr) rs886041117
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys) rs777313457
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter) rs786205139
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs) rs199469665
NM_001267550.2(TTN):c.107647del (p.Ser35883fs) rs281864932
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.107837A>C (p.His35946Pro) rs281864931
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) rs281864928
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) rs267607156
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter) rs281864929
NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis) rs281864933
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) rs869320741
NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu) rs786205367
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys) rs869320743
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) rs72554634
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu) rs80356713
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys) rs80356714
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp) rs515726147
NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter) rs121908854
NM_001281503.2(SLITRK1):c.1264del (p.Leu422fs) rs193302861
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala) rs200930463
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.3278_3279dup (p.Gly1094fs) rs869320662
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg) rs121908332
NM_001282534.2(KCNK9):c.706G>C (p.Gly236Arg) rs121908332
NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp) rs121434435
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys) rs387907576
NM_001287.6(CLCN7):c.643G>A (p.Gly215Arg) rs397515539
NM_001287742.2(FDFT1):c.-75+131_-75+146del rs1563290033
NM_001288705.3(CSF1R):c.1699del (p.Thr567fs) rs690016546
NM_001288705.3(CSF1R):c.1745T>C (p.Leu582Pro) rs690016563
NM_001288705.3(CSF1R):c.1889T>G (p.Leu630Arg) rs690016547
NM_001288705.3(CSF1R):c.1957T>C (p.Cys653Arg) rs690016559
NM_001288705.3(CSF1R):c.1958G>A (p.Cys653Tyr) rs397515555
NM_001288705.3(CSF1R):c.2060dup (p.Ser688fs) rs587777245
NM_001288705.3(CSF1R):c.2294G>A (p.Gly765Asp) rs690016566
NM_001288705.3(CSF1R):c.2329C>T (p.Arg777Trp) rs397515556
NM_001288705.3(CSF1R):c.2330G>A (p.Arg777Gln) rs690016548
NM_001288705.3(CSF1R):c.2342C>A (p.Ala781Glu) rs587777247
NM_001288705.3(CSF1R):c.2342C>T (p.Ala781Val) rs587777247
NM_001288705.3(CSF1R):c.2350G>A (p.Val784Met) rs690016564
NM_001288705.3(CSF1R):c.2378A>C (p.Lys793Thr) rs690016561
NM_001288705.3(CSF1R):c.2442+1G>T rs587777246
NM_001288705.3(CSF1R):c.2450T>C (p.Leu817Pro) rs690016549
NM_001288705.3(CSF1R):c.2480T>C (p.Ile827Thr) rs690016550
NM_001288705.3(CSF1R):c.2483T>C (p.Phe828Ser) rs397515557
NM_001288705.3(CSF1R):c.2512G>C (p.Val838Leu) rs690016557
NM_001288705.3(CSF1R):c.2527A>T (p.Ile843Phe) rs690016558
NM_001288705.3(CSF1R):c.2528T>A (p.Ile843Asn) rs690016555
NM_001288705.3(CSF1R):c.2541G>C (p.Glu847Asp) rs690016551
NM_001288705.3(CSF1R):c.2566T>C (p.Tyr856His) rs690016552
NM_001288705.3(CSF1R):c.2629C>T (p.Gln877Ter) rs690016556
NM_001288705.3(CSF1R):c.2655-2A>G rs690016554
NM_001288705.3(CSF1R):c.2701C>T (p.Pro901Ser) rs690016553
NM_001288705.3(CSF1R):c.2717T>C (p.Ile906Thr) rs690016560
NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly) rs104894201
NM_001289808.2(CRYAB):c.60del (p.Ser21fs) rs281865141
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) rs587777101
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) rs587777100
NM_001330260.2(SCN8A):c.1221G>C (p.Leu407Phe) rs879255698
NM_001330260.2(SCN8A):c.1228G>C (p.Val410Leu) rs879255699
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser) rs879255700
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2624T>A (p.Leu875Gln) rs879255701
NM_001330260.2(SCN8A):c.2668G>A (p.Ala890Thr) rs879255702
NM_001330260.2(SCN8A):c.2879T>A (p.Val960Asp) rs879255703
NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys) rs876657399
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_001330260.2(SCN8A):c.3991C>G (p.Leu1331Val) rs397514738
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4397A>C (p.Asn1466Thr) rs587777723
NM_001330260.2(SCN8A):c.4398C>A (p.Asn1466Lys) rs587777722
NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val) rs796053217
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys) rs879255705
NM_001330260.2(SCN8A):c.4813A>G (p.Ile1605Val) rs879255706
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.4862T>G (p.Leu1621Trp) rs879255707
NM_001330260.2(SCN8A):c.4873G>A (p.Gly1625Arg) rs879255708
NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr) rs879255709
NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp) rs202151337
NM_001330260.2(SCN8A):c.5401C>G (p.Gln1801Glu) rs879255710
NM_001330260.2(SCN8A):c.5610A>T (p.Glu1870Asp) rs879255711
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln) rs796053229
NM_001330260.2(SCN8A):c.779T>C (p.Phe260Ser) rs879255697
NM_001330288.2(SMARCC2):c.1926+1G>T rs1555221275
NM_001330311.2(DVL1):c.1580_1592del (p.His527fs) rs797044834
NM_001330311.2(DVL1):c.1583del (p.Pro528fs) rs797044836
NM_001330311.2(DVL1):c.1594del (p.Trp532fs) rs797044835
NM_001330311.2(DVL1):c.1604del (p.Gly535fs) rs797044838
NM_001330311.2(DVL1):c.1637del (p.Pro546fs) rs797044839
NM_001330311.2(DVL1):c.1645_1646delinsC (p.Phe549fs) rs797044833
NM_001330311.2(DVL1):c.1651_1658delinsG (p.Pro551fs) rs797044840
NM_001330311.2(DVL1):c.1690del (p.Ser564fs) rs797044837
NM_001347721.2(DYRK1A):c.208-28G>A rs552103257
NM_001349253.2(SCN11A):c.2432T>C (p.Leu811Pro) rs483352920
NM_001349253.2(SCN11A):c.3904C>T (p.Leu1302Phe) rs1553633131
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys) rs797045026
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His) rs2063908570
NM_001356.5(DDX3X):c.1399G>T (p.Ala467Ser) rs2147358490
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.1702C>T (p.Pro568Ser) rs2147360044
NM_001356.5(DDX3X):c.443+3A>T rs2147350644
NM_001356.5(DDX3X):c.898G>T (p.Val300Phe) rs2147353947
NM_001358263.1(HK1):c.-290G>C rs797044964
NM_001358921.2(COQ2):c.1047del (p.Asn351fs) rs750710187
NM_001358921.2(COQ2):c.395T>G (p.Met132Arg) rs1057519348
NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys) rs121918230
NM_001358921.2(COQ2):c.755C>T (p.Ala252Val) rs762616589
NM_001360.3(DHCR7):c.832-1G>C rs80338863
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr) rs121912300
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile) rs121912298
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.106T>G (p.Phe36Val) rs121912293
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.1150C>T (p.Pro384Ser) rs199422250
NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu) rs199422251
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) rs199422252
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu) rs121912296
NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro) rs199422253
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) rs121912292
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg) rs121912299
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) rs121912295
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys) rs121912302
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile) rs199422254
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu) rs121912289
NM_001363.5(DKC1):c.127A>G (p.Lys43Glu) rs199422243
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr) rs121912301
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) rs121912297
NM_001363.5(DKC1):c.200C>T (p.Thr67Ile) rs199422244
NM_001363.5(DKC1):c.204C>A (p.His68Gln) rs199422245
NM_001363.5(DKC1):c.29C>T (p.Pro10Leu) rs199422242
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.472C>T (p.Arg158Trp) rs199422246
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_001363.5(DKC1):c.911G>A (p.Ser304Asn) rs199422247
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys) rs137854491
NM_001363.5(DKC1):c.91C>G (p.Gln31Glu) rs137854491
NM_001363.5(DKC1):c.941A>G (p.Lys314Arg) rs199422248
NM_001363.5(DKC1):c.949C>G (p.Leu317Val) rs121912290
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe) rs121912290
NM_001363.5(DKC1):c.961C>G (p.Leu321Val) rs2728726
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln) rs121912291
NM_001363118.2(SLC52A2):c.1255G>A (p.Gly419Ser) rs397514658
NM_001363118.2(SLC52A2):c.700C>T (p.Gln234Ter) rs797045200
NM_001363118.2(SLC52A2):c.851C>A (p.Ala284Asp) rs398123067
NM_001365088.1(SLC12A6):c.1478_1485del (p.Phe493fs) rs515726218
NM_001365088.1(SLC12A6):c.1584_1585delinsG (p.Phe529fs) rs515726216
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter) rs121908428
NM_001365088.1(SLC12A6):c.2032dup (p.Tyr678fs) rs515726217
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365536.1(SCN9A):c.1185C>A (p.Asn395Lys) rs80356471
NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met) rs1553491169
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.2501T>G (p.Leu834Arg) rs80356473
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) rs80356474
NM_001365536.1(SCN9A):c.2605C>T (p.Leu869Phe) rs80356476
NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His) rs80356475
NM_001365536.1(SCN9A):c.2620G>C (p.Ala874Pro) rs80356477
NM_001365536.1(SCN9A):c.406A>G (p.Ile136Val) rs80356468
NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val) rs80356478
NM_001365536.1(SCN9A):c.616A>G (p.Asn206Asp) rs80356466
NM_001365536.1(SCN9A):c.647T>C (p.Phe216Ser) rs80356469
NM_001365536.1(SCN9A):c.701T>C (p.Ile234Thr) rs1698638581
NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr) rs80356470
NM_001368067.1(LDB3):c.440C>T (p.Ala147Val) rs281865143
NM_001368894.2(PAX6):c.1309dup (p.Ter437LeuextTer?) rs1592348310
NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr) rs63749871
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg) rs63749871
NM_001370298.3(FGD4):c.1736G>A (p.Arg579His) rs281865063
NM_001370298.3(FGD4):c.2109G>H (p.Met703Ile) rs281865064
NM_001370298.3(FGD4):c.2173-2A>G rs281865065
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs) rs1763212034
NM_001371623.1(TCOF1):c.2490del (p.Pro830_Val831insTer)
NM_001371623.1(TCOF1):c.2853dup (p.Ala952fs)
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs) rs587779766
NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter) rs777736953
NM_001371928.1(AHDC1):c.2908C>T (p.Gln970Ter) rs886041781
NM_001372044.2(SHANK3):c.4156del (p.Glu1386fs) rs1555910219
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn) rs121909101
NM_001374385.1(ATP8B1):c.627+5G>T rs745696446
NM_001374623.1(PNPLA1):c.387C>A (p.Asp129Glu) rs200806519
NM_001374828.1(ARID1B):c.1099C>T (p.Gln367Ter) rs1583025138
NM_001374828.1(ARID1B):c.1508del (p.Asn503fs) rs1583026682
NM_001375380.1(EBF3):c.487C>T (p.Arg163Trp) rs1057519092
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001375380.1(EBF3):c.488G>C (p.Arg163Pro) rs1057519389
NM_001375380.1(EBF3):c.488G>T (p.Arg163Leu) rs1057519389
NM_001375380.1(EBF3):c.512G>A (p.Gly171Asp) rs1057519437
NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter) rs1057519522
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp) rs779003155
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln) rs1131692261
NM_001375808.2(LPIN2):c.1316_1317del (p.Ser439fs) rs318240736
NM_001375808.2(LPIN2):c.2327+1G>C rs80338808
NM_001375808.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) rs80338806
NM_001377295.2(GNAT2):c.461+24G>A rs397515384
NM_001378120.1(MBD5):c.150del (p.Thr52fs) rs398122412
NM_001378120.1(MBD5):c.340_347del (p.Lys114fs) rs794727928
NM_001378120.1(MBD5):c.440C>G (p.Ser147Ter) rs886041003
NM_001378120.1(MBD5):c.890_891del (p.Ile297fs) rs796052719
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu) rs121912425
NM_001379610.1(SPINK1):c.150T>G (p.Asp50Glu) rs515726206
NM_001379610.1(SPINK1):c.160T>C (p.Tyr54His) rs515726207
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_001384140.1(PCDH15):c.158-1G>A rs876657418
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_001384140.1(PCDH15):c.394dup (p.Glu132fs) rs397515566
NM_001384732.1(CPLANE1):c.6354dup (p.Ile2119fs) rs1188561908
NM_001384732.1(CPLANE1):c.6407del (p.Pro2136fs) rs367543064
NM_001386140.1(MTTP):c.1304T>A (p.Leu435His) rs1560621495
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile) rs199422222
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu) rs767833468
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr) rs199422221
NM_001394148.2(LOC128706665):c.-56_-47dup rs16996729
NM_001406511.1(ATP7B):c.-55+244_-55+258del rs879255499
NM_001457.4(FLNB):c.1081G>A (p.Gly361Ser) rs80356509
NM_001457.4(FLNB):c.1088G>A (p.Gly363Glu) rs80356510
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter) rs80356517
NM_001457.4(FLNB):c.4292T>G (p.Leu1431Arg) rs80356511
NM_001457.4(FLNB):c.442T>A (p.Trp148Arg) rs80356493
NM_001457.4(FLNB):c.4713_4715del (p.Asn1571del) rs80356512
NM_001457.4(FLNB):c.4747_4749del (p.Asp1583del) rs80356498
NM_001457.4(FLNB):c.4756G>A (p.Gly1586Arg) rs80356513
NM_001457.4(FLNB):c.4775T>A (p.Val1592Asp) rs80356514
NM_001457.4(FLNB):c.4804T>C (p.Ser1602Pro) rs80356501
NM_001457.4(FLNB):c.4808C>T (p.Pro1603Leu) rs80356515
NM_001457.4(FLNB):c.482T>G (p.Phe161Cys) rs80356506
NM_001457.4(FLNB):c.4835G>A (p.Gly1612Asp) rs80356505
NM_001457.4(FLNB):c.4927G>T (p.Ala1643Ser) rs80356502
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser) rs80356504
NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser) rs80356503
NM_001457.4(FLNB):c.512T>A (p.Leu171Gln) rs80356494
NM_001457.4(FLNB):c.542G>T (p.Gly181Val) rs80356495
NM_001457.4(FLNB):c.549C>G (p.Cys183Trp) rs80356496
NM_001457.4(FLNB):c.5500G>A (p.Gly1834Arg) rs80356516
NM_001457.4(FLNB):c.602C>T (p.Ala201Val) rs80356499
NM_001457.4(FLNB):c.608A>C (p.Gln203Pro) rs80356497
NM_001457.4(FLNB):c.629G>T (p.Gly210Val) rs80356500
NM_001457.4(FLNB):c.6408del (p.Ser2137fs) rs80356521
NM_001457.4(FLNB):c.679G>A (p.Glu227Lys) rs80356508
NM_001457.4(FLNB):c.700C>G (p.Leu234Val) rs80356507
NM_001457.4(FLNB):c.7029T>G (p.Tyr2343Ter) rs80356518
NM_001482.3(GATM):c.1111dup (p.Met371fs) rs397515542
NM_001482.3(GATM):c.446G>A (p.Trp149Ter) rs80338737
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met) rs281875327
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys) rs587777385
NM_001615.4(ACTG2):c.119G>A (p.Arg40His) rs587777386
NM_001615.4(ACTG2):c.187C>G (p.Arg63Gly) rs864309491
NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys) rs78001248
NM_001615.4(ACTG2):c.533G>A (p.Arg178His) rs587777384
NM_001615.4(ACTG2):c.533G>T (p.Arg178Leu) rs587777384
NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln) rs1553396458
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001615.4(ACTG2):c.770G>A (p.Arg257His) rs797044959
NM_001701.4(BAAT):c.858C>G (p.Ser286=) rs80356746
NM_001701.4(BAAT):c.967A>G (p.Ile323Val) rs80356747
NM_001739.2(CA5A):c.619-3421_774+502del
NM_001759.4(CCND2):c.808A>T (p.Lys270Ter) rs587777619
NM_001759.4(CCND2):c.838A>G (p.Thr280Ala) rs587777618
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_001759.4(CCND2):c.842C>G (p.Pro281Arg) rs587777622
NM_001844.5(COL2A1):c.1034G>A (p.Gly345Asp) rs1939617011
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) rs121912885
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser) rs886039542
NM_001844.5(COL2A1):c.541G>C (p.Ala181Pro) rs1939975439
NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val) rs113994104
NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg) rs113994105
NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu) rs113994106
NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu) rs113994107
NM_001845.6(COL4A1):c.1A>T (p.Met1Leu) rs113994103
NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) rs113994108
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp) rs113994111
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) rs113994112
NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg) rs113994113
NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg) rs113994114
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.1056+5G>A rs886044511
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter) rs121912942
NM_001851.6(COL9A1):c.883C>T (p.Arg295Ter) rs121912931
NM_001852.4(COL9A2):c.843_846+4del rs606231376
NM_001866.2(COX7B):c.55C>T (p.Gln19Ter) rs397514585
NM_001866.3(COX7B):c.196del (p.Leu66fs) rs397514583
NM_001866.3(COX7B):c.41-2A>G rs397514584
NM_001876.4(CPT1A):c.1079A>G (p.Glu360Gly) rs80356787
NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val) rs80356790
NM_001876.4(CPT1A):c.1361A>G (p.Asp454Gly) rs80356778
NM_001876.4(CPT1A):c.1393G>T (p.Gly465Trp) rs80356784
NM_001876.4(CPT1A):c.1395G>T (p.Gly465=) rs774577615
NM_001876.4(CPT1A):c.1425G>A (p.Trp475Ter) rs80356794
NM_001876.4(CPT1A):c.1451T>C (p.Leu484Pro) rs80356793
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.4(CPT1A):c.1494T>A (p.Tyr498Ter) rs80356795
NM_001876.4(CPT1A):c.1600del (p.Ser533_Leu534insTer) rs80356801
NM_001876.4(CPT1A):c.1737C>A (p.Tyr579Ter) rs80356785
NM_001876.4(CPT1A):c.2028+3_2028+6del rs80356799
NM_001876.4(CPT1A):c.2126G>A (p.Gly709Glu) rs28936374
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter) rs80356774
NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter) rs80356782
NM_001876.4(CPT1A):c.912C>G (p.Cys304Trp) rs80356789
NM_001876.4(CPT1A):c.941C>T (p.Thr314Ile) rs80356776
NM_001876.4(CPT1A):c.948del (p.Ile317fs) rs80356800
NM_001876.4(CPT1A):c.96T>G (p.Tyr32Ter) rs80356786
NM_001920.5(DCN):c.1036T>G (p.Cys346Gly)
NM_001920.5(DCN):c.941del (p.Pro314fs) rs80338742
NM_001920.5(DCN):c.947del (p.Gly316fs) rs397515545
NM_001920.5(DCN):c.962del (p.Lys321fs) rs587777258
NM_001920.5(DCN):c.967del (p.Ser323fs) rs80338741
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) rs60538473
NM_001953.4(TYMP):c.929-3G>A
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.1010_1019delinsAA (p.Gly337fs) rs1064792892
NM_001953.5(TYMP):c.1067T>C (p.Leu356Pro) rs1060499532
NM_001953.5(TYMP):c.1088del (p.Gly363fs) rs1060499535
NM_001953.5(TYMP):c.1112T>C (p.Leu371Pro) rs1060499533
NM_001953.5(TYMP):c.112G>T (p.Glu38Ter) rs1054084896
NM_001953.5(TYMP):c.1159+2T>A rs770277446
NM_001953.5(TYMP):c.1160-1G>C rs797044455
NM_001953.5(TYMP):c.1160-2A>C rs1064792877
NM_001953.5(TYMP):c.1160-2A>G rs1064792877
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp) rs1064792873
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del) rs786205098
NM_001953.5(TYMP):c.1211dup (p.Gly405fs) rs1556486467
NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser) rs1064792874
NM_001953.5(TYMP):c.1300+2T>A rs1064792879
NM_001953.5(TYMP):c.1301-1G>A rs773785934
NM_001953.5(TYMP):c.1311del (p.Trp437fs) rs1064792889
NM_001953.5(TYMP):c.131G>A (p.Arg44Gln) rs28931613
NM_001953.5(TYMP):c.1327_1346del (p.Asp443fs) rs1064792890
NM_001953.5(TYMP):c.1351dup (p.Gln451fs) rs1556486029
NM_001953.5(TYMP):c.1360G>C (p.Ala454Pro) rs764275775
NM_001953.5(TYMP):c.1395_1400del (p.Pro466_Phe467del) rs1064792891
NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter) rs11479
NM_001953.5(TYMP):c.1431dup (p.Leu478fs) rs1064792885
NM_001953.5(TYMP):c.146T>G (p.Leu49Arg) rs1064792857
NM_001953.5(TYMP):c.162C>G (p.Ile54Met) rs1064792858
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) rs1064792859
NM_001953.5(TYMP):c.261G>C (p.Glu87Asp) rs749827433
NM_001953.5(TYMP):c.261G>T (p.Glu87Asp) rs749827433
NM_001953.5(TYMP):c.263_264del (p.Thr88fs) rs1064792886
NM_001953.5(TYMP):c.275C>A (p.Thr92Asn) rs891107196
NM_001953.5(TYMP):c.328C>T (p.Gln110Ter) rs1064792860
NM_001953.5(TYMP):c.398T>C (p.Leu133Pro) rs1064792862
NM_001953.5(TYMP):c.401C>A (p.Ala134Glu) rs199901350
NM_001953.5(TYMP):c.467A>G (p.Asp156Gly) rs1064792863
NM_001953.5(TYMP):c.478T>C (p.Ser160Pro) rs1064792864
NM_001953.5(TYMP):c.516+2T>C rs797044454
NM_001953.5(TYMP):c.518T>G (p.Met173Arg) rs1064792865
NM_001953.5(TYMP):c.530T>C (p.Leu177Pro) rs1064792866
NM_001953.5(TYMP):c.605G>A (p.Arg202Lys) rs121913041
NM_001953.5(TYMP):c.605G>C (p.Arg202Thr) rs121913041
NM_001953.5(TYMP):c.623T>G (p.Val208Gly) rs1064792867
NM_001953.5(TYMP):c.707T>C (p.Phe236Ser) rs1064792868
NM_001953.5(TYMP):c.715G>A (p.Ala239Thr) rs1064792869
NM_001953.5(TYMP):c.720del (p.Val241fs) rs1064792887
NM_001953.5(TYMP):c.784del (p.Ser261_Leu262insTer) rs1064792888
NM_001953.5(TYMP):c.847C>G (p.His283Asp) rs1064792871
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872
NM_001953.5(TYMP):c.928+1G>A rs1064792876
NM_001953.5(TYMP):c.931G>C (p.Gly311Arg) rs121913040
NM_001953.5(TYMP):c.931G>T (p.Gly311Cys) rs121913040
NM_001953.5(TYMP):c.938T>C (p.Leu313Pro) rs892141220
NM_001953.5(TYMP):c.966T>C (p.Thr322=) rs1064792856
NM_001953.5(TYMP):c.994_1011dup (p.Gly337_Ser338insAlaAlaLeuAspAspGly) rs1064792881
NM_001953.5(TYMP):c.99dup (p.Lys34fs) rs1064792880
NM_001972.4(ELANE):c.211T>C (p.Cys71Arg) rs28931611
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr) rs57246956
NM_001972.4(ELANE):c.640G>C (p.Gly214Arg)
NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter) rs886039224
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) rs121913028
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg) rs111405756
NM_001999.4(FBN2):c.4346-2A>T rs587776518
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn) rs1554338262
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg) rs137852646
NM_002047.4(GARS1):c.1954G>C (p.Gly652Arg) rs1783251037
NM_002047.4(GARS1):c.1955G>C (p.Gly652Ala) rs747080824
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) rs137852644
NM_002047.4(GARS1):c.598G>T (p.Asp200Tyr) rs1554337369
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu) rs137852648
NM_002049.4(GATA1):c.1240T>C (p.Ter414Arg) rs587776456
NM_002049.4(GATA1):c.220+1del rs587776453
NM_002049.4(GATA1):c.220G>C (p.Val74Leu) rs587776452
NM_002049.4(GATA1):c.2T>C (p.Met1Thr) rs587776451
NM_002049.4(GATA1):c.613G>A (p.Val205Met) rs104894815
NM_002049.4(GATA1):c.622G>C (p.Gly208Arg) rs587776454
NM_002049.4(GATA1):c.622_623delinsTC (p.Gly208Ser) rs137852312
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp) rs387907207
NM_002049.4(GATA1):c.652G>T (p.Asp218Tyr) rs104894808
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly) rs104894816
NM_002055.4(GFAP):c.[236G>A;667G>C]
NM_002055.4(GFAP):c.[988C>G;994G>A]
NM_002055.5(GFAP):c.1049_1050insCTTGCA (p.Tyr349_Gln350insHisLeu) rs797044584
NM_002055.5(GFAP):c.1051G>C (p.Asp351His) rs797044585
NM_002055.5(GFAP):c.1055T>C (p.Leu352Pro) rs28932769
NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro) rs267607515
NM_002055.5(GFAP):c.1073C>T (p.Ala358Val) rs797044586
NM_002055.5(GFAP):c.1074C>G (p.Ala358=) rs797044587
NM_002055.5(GFAP):c.1075C>G (p.Leu359Val) rs60825166
NM_002055.5(GFAP):c.1076T>C (p.Leu359Pro) rs267607511
NM_002055.5(GFAP):c.1079A>T (p.Asp360Val) rs62636501
NM_002055.5(GFAP):c.1085A>G (p.Glu362Gly) rs797044588
NM_002055.5(GFAP):c.1086G>C (p.Glu362Asp) rs121909718
NM_002055.5(GFAP):c.1090G>A (p.Ala364Thr) rs58645997
NM_002055.5(GFAP):c.1090G>C (p.Ala364Pro) rs58645997
NM_002055.5(GFAP):c.1091C>T (p.Ala364Val) rs267607503
NM_002055.5(GFAP):c.1096T>C (p.Tyr366His) rs58008462
NM_002055.5(GFAP):c.1097A>G (p.Tyr366Cys) rs267607502
NM_002055.5(GFAP):c.1111G>C (p.Glu371Gln) rs267607526
NM_002055.5(GFAP):c.1112A>G (p.Glu371Gly) rs57815192
NM_002055.5(GFAP):c.1112A>T (p.Glu371Val) rs57815192
NM_002055.5(GFAP):c.1117G>A (p.Glu373Lys) rs58075601
NM_002055.5(GFAP):c.1117G>C (p.Glu373Gln) rs58075601
NM_002055.5(GFAP):c.1118A>C (p.Glu373Ala) rs797044589
NM_002055.5(GFAP):c.1121A>G (p.Glu374Gly) rs59628143
NM_002055.5(GFAP):c.1126C>T (p.Arg376Trp) rs267607512
NM_002055.5(GFAP):c.1148C>T (p.Thr383Ile) rs267607517
NM_002055.5(GFAP):c.1154C>T (p.Ser385Phe) rs797044590
NM_002055.5(GFAP):c.1157A>T (p.Asn386Ile) rs61726471
NM_002055.5(GFAP):c.1171+472G>A rs748860341
NM_002055.5(GFAP):c.1171+475_1171+482delinsATC rs797044592
NM_002055.5(GFAP):c.1178G>T (p.Ser393Ile) rs62635764
NM_002055.5(GFAP):c.1193C>A (p.Ser398Tyr) rs267607508
NM_002055.5(GFAP):c.1193C>T (p.Ser398Phe) rs267607508
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp) rs121909717
NM_002055.5(GFAP):c.1249del (p.Asp417fs) rs797044591
NM_002055.5(GFAP):c.1250A>C (p.Asp417Ala) rs267607520
NM_002055.5(GFAP):c.1277A>T (p.Gln426Leu) rs267607521
NM_002055.5(GFAP):c.187A>C (p.Lys63Gln) rs60095124
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) rs797044569
NM_002055.5(GFAP):c.205G>A (p.Glu69Lys) rs797044570
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp) rs60343255
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln) rs267607510
NM_002055.5(GFAP):c.214G>A (p.Glu72Lys) rs267607523
NM_002055.5(GFAP):c.218T>A (p.Met73Lys) rs61060395
NM_002055.5(GFAP):c.218T>C (p.Met73Thr) rs61060395
NM_002055.5(GFAP):c.218T>G (p.Met73Arg) rs61060395
NM_002055.5(GFAP):c.221T>C (p.Met74Thr) rs267607504
NM_002055.5(GFAP):c.226C>G (p.Leu76Val) rs57120761
NM_002055.5(GFAP):c.226C>T (p.Leu76Phe) rs57120761
NM_002055.5(GFAP):c.229A>T (p.Asn77Tyr) rs58732244
NM_002055.5(GFAP):c.230A>G (p.Asn77Ser) rs57590980
NM_002055.5(GFAP):c.232G>A (p.Asp78Asn) rs797044571
NM_002055.5(GFAP):c.234C>A (p.Asp78Glu) rs121909720
NM_002055.5(GFAP):c.235C>G (p.Arg79Gly) rs59793293
NM_002055.5(GFAP):c.235C>T (p.Arg79Cys) rs59793293
NM_002055.5(GFAP):c.236G>A (p.Arg79His) rs59285727
NM_002055.5(GFAP):c.236G>C (p.Arg79Pro) rs59285727
NM_002055.5(GFAP):c.236G>T (p.Arg79Leu) rs59285727
NM_002055.5(GFAP):c.239T>C (p.Phe80Ser) rs797044572
NM_002055.5(GFAP):c.247T>C (p.Tyr83His) rs267607506
NM_002055.5(GFAP):c.256A>G (p.Lys86Glu) rs797044573
NM_002055.5(GFAP):c.256_259delinsGAGT (p.Lys86_Val87delinsGluPhe) rs267607501
NM_002055.5(GFAP):c.259G>A (p.Val87Ile) rs267607518
NM_002055.5(GFAP):c.259G>C (p.Val87Leu) rs267607518
NM_002055.5(GFAP):c.260T>G (p.Val87Gly) rs60449251
NM_002055.5(GFAP):c.262C>A (p.Arg88Ser) rs61622935
NM_002055.5(GFAP):c.262C>T (p.Arg88Cys) rs61622935
NM_002055.5(GFAP):c.269T>C (p.Leu90Pro) rs59661476
NM_002055.5(GFAP):c.278A>C (p.Gln93Pro) rs797044574
NM_002055.5(GFAP):c.290T>C (p.Leu97Pro) rs59568967
NM_002055.5(GFAP):c.302T>C (p.Leu101Pro) rs267607516
NM_002055.5(GFAP):c.365_373dup (p.Arg124_Leu125insGlnLeuArg) rs797044575
NM_002055.5(GFAP):c.369GCGGCT[3] (p.124RL[3]) rs797044576
NM_002055.5(GFAP):c.382G>A (p.Asp128Asn) rs267607509
NM_002055.5(GFAP):c.613G>A (p.Glu205Lys) rs267607507
NM_002055.5(GFAP):c.619-3C>G rs112611995
NM_002055.5(GFAP):c.619G>A (p.Glu207Lys) rs267607500
NM_002055.5(GFAP):c.619G>C (p.Glu207Gln) rs267607500
NM_002055.5(GFAP):c.628G>A (p.Glu210Lys) rs57661783
NM_002055.5(GFAP):c.692T>A (p.Leu231His) rs797044577
NM_002055.5(GFAP):c.704T>C (p.Leu235Pro) rs60269890
NM_002055.5(GFAP):c.707A>C (p.Lys236Thr) rs267607525
NM_002055.5(GFAP):c.715C>G (p.Arg239Gly) rs58064122
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys) rs58064122
NM_002055.5(GFAP):c.716G>A (p.Arg239His) rs59565950
NM_002055.5(GFAP):c.716G>C (p.Arg239Pro) rs59565950
NM_002055.5(GFAP):c.716G>T (p.Arg239Leu) rs59565950
NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp) rs60551555
NM_002055.5(GFAP):c.731C>T (p.Ala244Val) rs61497286
NM_002055.5(GFAP):c.739T>C (p.Ser247Pro) rs267607519
NM_002055.5(GFAP):c.758C>G (p.Ala253Gly) rs61726470
NM_002055.5(GFAP):c.770A>G (p.Tyr257Cys) rs267607505
NM_002055.5(GFAP):c.772C>T (p.Arg258Cys) rs797044578
NM_002055.5(GFAP):c.773G>C (p.Arg258Pro) rs61726468
NM_002055.5(GFAP):c.791T>C (p.Leu264Pro) rs797044579
NM_002055.5(GFAP):c.791_792delinsCT (p.Leu264Pro) rs797044580
NM_002055.5(GFAP):c.799G>C (p.Ala267Pro) rs797044581
NM_002055.5(GFAP):c.803C>A (p.Ala268Asp) rs797044582
NM_002055.5(GFAP):c.827G>T (p.Arg276Leu) rs121909719
NM_002055.5(GFAP):c.835A>G (p.Lys279Glu) rs58536923
NM_002055.5(GFAP):c.868C>G (p.Gln290Glu) rs797044583
NM_002055.5(GFAP):c.934G>T (p.Glu312Ter) rs763868966
NM_002055.5(GFAP):c.992T>C (p.Leu331Pro) rs59985777
NM_002055.5(GFAP):c.994G>A (p.Glu332Lys) rs267607514
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) rs869312824
NM_002074.5(GNB1):c.287G>T (p.Arg96Leu) rs1646670990
NM_002074.5(GNB1):c.301A>G (p.Met101Val) rs869312825
NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr) rs1570640673
NM_002074.5(GNB1):c.353A>G (p.Asp118Gly) rs1553194162
NM_002087.4(GRN):c.-8+5G>C rs63750313
NM_002087.4(GRN):c.26C>A (p.Ala9Asp) rs63751243
NM_002111.8(HTT):c.52CAG[27_35] (p.Gln18_Gln38delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_002111.8(HTT):c.52CAG[36_39]
NM_002111.8(HTT):c.52CAG[?_25]
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup) rs113994176
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs) rs113994177
NM_002354.2(EPCAM):c.859-1430_*2033del
NM_002381.5(MATN3):c.359C>T (p.Thr120Met) rs397515546
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) rs104893637
NM_002381.5(MATN3):c.400G>A (p.Glu134Lys) rs2103484088
NM_002381.5(MATN3):c.437T>G (p.Leu146Arg) rs2103484073
NM_002381.5(MATN3):c.513_530del (p.Asp171_Val176del) rs2103484013
NM_002381.5(MATN3):c.518C>A (p.Ala173Asp) rs779413744
NM_002381.5(MATN3):c.575T>A (p.Ile192Asn) rs2103483989
NM_002381.5(MATN3):c.581T>A (p.Val194Asp) rs104893645
NM_002381.5(MATN3):c.584C>A (p.Thr195Lys) rs765225021
NM_002381.5(MATN3):c.626G>C (p.Arg209Pro) rs749845872
NM_002381.5(MATN3):c.652T>A (p.Tyr218Asn) rs2103483937
NM_002381.5(MATN3):c.910T>A (p.Cys304Ser) rs104893639
NM_002430.3(MN1):c.3817C>T (p.Gln1273Ter) rs1601319615
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter) rs1601319501
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro) rs200938111
NM_002449.5(MSX2):c.443C>A (p.Pro148His) rs104893895
NM_002456.6(MUC1):c.253C>T (p.Gln85Ter) rs773704188
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.6(MYH9):c.2114G>A (p.Arg705His) rs80338828
NM_002473.6(MYH9):c.279C>G (p.Asn93Lys) rs121913655
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.3494G>T (p.Arg1165Leu) rs80338830
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.6(MYH9):c.4270G>C (p.Asp1424His) rs80338831
NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr) rs80338831
NM_002473.6(MYH9):c.4340A>T (p.Asp1447Val) rs797044804
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_002473.6(MYH9):c.5821del (p.Asp1941fs) rs587776808
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.1125G>A (p.Trp375Ter) rs1057519588
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.330T>G (p.Tyr110Ter) rs1057519585
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.681del (p.Phe227fs) rs1057519586
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.5(NBN):c.836_839del (p.Gln279fs) rs864309668
NM_002485.5(NBN):c.842dup (p.Leu281fs) rs864309669
NM_002485.5(NBN):c.900_924del (p.Gly301fs) rs1057519587
NM_002485.5(NBN):c.976C>T (p.Gln326Ter) rs121908973
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) rs869025573
NM_002529.4(NTRK1):c.1354+13_1634del
NM_002529.4(NTRK1):c.1633-1G>T rs1571699664
NM_002529.4(NTRK1):c.1660del (p.Arg554fs) rs80356675
NM_002529.4(NTRK1):c.1860_1861insT (p.Pro621fs) rs80356676
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr) rs80356677
NM_002529.4(NTRK1):c.25C>T (p.Gln9Ter) rs80356673
NM_002609.4(PDGFRB):c.1973T>C (p.Leu658Pro) rs397509381
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.3(POLG):c.3488T>G (p.Met1163Arg) rs113994100
NM_002693.3(POLG):c.3630dup (p.Gly1211fs) rs113994101
NM_002734.5(PRKAR1A):c.177+3A>G rs797044568
NM_002734.5(PRKAR1A):c.1A>G (p.Met1Val) rs281864779
NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs) rs281864790
NM_002734.5(PRKAR1A):c.709-7_709-2del rs281864801
NM_002734.5(PRKAR1A):c.82C>T (p.Gln28Ter) rs281864780
NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser) rs386134171
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly) rs121918517
NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro) rs386134158
NM_002739.5(PRKCG):c.188G>T (p.Gly63Val) rs386134159
NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu) rs121918516
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr) rs1555806333
NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa) rs1555808841
NM_002739.5(PRKCG):c.226C>T (p.Arg76Ter) rs2068614711
NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser) rs386134160
NM_002739.5(PRKCG):c.285C>G (p.Asp95Glu) rs17854523
NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del) rs386134161
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr) rs121918511
NM_002739.5(PRKCG):c.302A>G (p.His101Arg) rs2068656783
NM_002739.5(PRKCG):c.303C>G (p.His101Gln) rs121918518
NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr) rs386134162
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp) rs121918514
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro) rs121918512
NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe) rs386134163
NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg) rs386134164
NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu) rs386134165
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg) rs121918515
NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp) rs121918513
NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg) rs386134166
NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr) rs386134167
NM_002739.5(PRKCG):c.413T>A (p.Val138Glu) rs386134168
NM_002739.5(PRKCG):c.417C>A (p.His139Gln) rs386134169
NM_002739.5(PRKCG):c.449_450delinsTT (p.Cys150Phe) rs386134170
NM_002739.5(PRKCG):c.530_919del
NM_002739.5(PRKCG):c.767T>C (p.Met256Thr) rs2068685112
NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly) rs386134157
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.305A>G (p.Glu102Gly) rs797044593
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn) rs180177151
NM_002764.4(PRPS1):c.244G>C (p.Ala82Pro)
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr) rs180177152
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002764.4(PRPS1):c.367C>G (p.His123Asp) rs2147682403
NM_002764.4(PRPS1):c.398A>C (p.Gln133Pro) rs80338675
NM_002764.4(PRPS1):c.455T>C (p.Leu152Pro) rs80338676
NM_002764.4(PRPS1):c.830A>C (p.Gln277Pro) rs869025593
NM_002764.4(PRPS1):c.869T>C (p.Ile290Thr) rs180177153
NM_002764.4(PRPS1):c.916G>A (p.Gly306Arg) rs180177154
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002775.4(HTRA1):c.[126delG];[961G>A]
NM_002775.5(HTRA1):c.108G>C (p.Gly36=) rs2293870
NM_002775.5(HTRA1):c.108G>T (p.Gly36=) rs2293870
NM_002775.5(HTRA1):c.1091T>C (p.Leu364Pro) rs587776447
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr) rs113993968
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) rs587776446
NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg) rs587776873
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.179_181del (p.Gly60del) rs80338836
NM_002834.5(PTPN11):c.181_183del (p.Asp61del) rs869025574
NM_002834.5(PTPN11):c.836A>C (p.Tyr279Ser) rs121918456
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002863.3(PYGL):c.[1964_1969invAAAAAG;1969+1_+4delGTAC]
NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser) rs113993976
NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys) rs113993977
NM_002863.5(PYGL):c.1895A>T (p.Asn632Ile) rs113993983
NM_002863.5(PYGL):c.2023T>A (p.Ser675Thr) rs113993985
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr) rs113993987
NM_002863.5(PYGL):c.38A>C (p.Gln13Pro) rs113993972
NM_002863.5(PYGL):c.529-1G>C rs113993974
NM_002875.5(RAD51):c.140A>G (p.His47Arg) rs768411477
NM_002875.5(RAD51):c.406A>T (p.Ile136Phe) rs797044557
NM_002875.5(RAD51):c.760C>T (p.Arg254Ter) rs199925463
NM_002875.5(RAD51):c.855dup (p.Pro286fs) rs34091239
NM_002880.4(RAF1):c.1456G>A (p.Asp486Asn) rs80338798
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002913.5(RFC1):c.132+2923=
NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002973.4(ATXN2):c.16CAG[22_31] (p.6Gln[22_31]) rs1885090126
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?]) rs1885090126
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.284T>C (p.Leu95Pro) rs80338846
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro) rs80338847
NM_003073.5(SMARCB1):c.*82C>T rs878854600
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003114.5(SPAG1):c.902_906del (p.Lys301fs) rs797045149
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.2102A>C (p.His701Pro)
NM_003136.4(SRP54):c.343A>G (p.Thr115Ala) rs1555354200
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu) rs1555354750
NM_003221.4(TFAP2B):c.218C>G (p.Pro73Arg) rs80338910
NM_003221.4(TFAP2B):c.601+5G>A rs80338911
NM_003221.4(TFAP2B):c.706C>A (p.Arg236Ser) rs80338912
NM_003221.4(TFAP2B):c.706C>T (p.Arg236Cys) rs80338912
NM_003221.4(TFAP2B):c.772T>G (p.Ser258Ala) rs2817394
NM_003221.4(TFAP2B):c.822-1G>C rs80338916
NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp) rs80338914
NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln) rs80338915
NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys) rs80338917
NM_003227.4(TFR2):c.1232ACA[1] (p.Asn412del) rs80338883
NM_003227.4(TFR2):c.1469T>G (p.Leu490Arg) rs80338886
NM_003227.4(TFR2):c.1665del (p.Ser556fs) rs80338887
NM_003227.4(TFR2):c.1849GCCGTGGCCCAG[1] (p.617AVAQ[1]) rs80338888
NM_003227.4(TFR2):c.2069A>C (p.Gln690Pro) rs80338889
NM_003227.4(TFR2):c.2228C>T (p.Ala743Val) rs80338875
NM_003227.4(TFR2):c.313C>T (p.Arg105Ter) rs80338878
NM_003227.4(TFR2):c.473+49C>A rs80338874
NM_003227.4(TFR2):c.88dup (p.Arg30fs) rs80338877
NM_003227.4(TFR2):c.949C>T (p.Gln317Ter) rs80338881
NM_003227.4(TFR2):c.97C>A (p.His33Asn) rs80338873
NM_003244.4(TGIF1):c.16+1845C>T rs397515501
NM_003244.4(TGIF1):c.581T>G (p.Val194Gly) rs397515503
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_003332.4(TYROBP):c.2T>C (p.Met1Thr) rs104894732
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile) rs80356545
NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly) rs80356546
NM_003334.4(UBA1):c.1731C>T (p.Asn577=) rs80356547
NM_003361.4(UMOD):c.148T>A (p.Cys50Ser) rs2141677149
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_003361.4(UMOD):c.335G>A (p.Cys112Tyr) rs2141676232
NM_003361.4(UMOD):c.503T>C (p.Leu168Pro) rs2141675428
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del) rs1555487528
NM_003361.4(UMOD):c.744C>G (p.Cys248Trp) rs886043751
NM_003361.4(UMOD):c.800G>T (p.Cys267Phe) rs2141674031
NM_003361.4(UMOD):c.808G>T (p.Gly270Cys) rs781101544
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter) rs80338905
NM_003383.5(VLDLR):c.2339del (p.Ile780fs) rs80338906
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) rs80338907
NM_003392.7(WNT5A):c.206G>A (p.Cys69Tyr) rs786204837
NM_003392.7(WNT5A):c.248G>C (p.Cys83Ser) rs786200925
NM_003392.7(WNT5A):c.257A>G (p.Tyr86Cys) rs786204836
NM_003392.7(WNT5A):c.545G>C (p.Cys182Ser) rs869312850
NM_003442.6(ZNF143):c.1019C>T (p.Thr340Ile)
NM_003442.6(ZNF143):c.851T>G (p.Leu284Ter)
NM_003491.4(NAA10):c.471+2T>A rs587776457
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) rs587784343
NM_003611.2:c.2388+1G>C
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs) rs312262890
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003718.5(CDK13):c.2200A>G (p.Lys734Glu) rs1064795731
NM_003718.5(CDK13):c.2201A>G (p.Lys734Arg) rs1784692399
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp) rs1554333853
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003718.5(CDK13):c.2898-1G>A rs1786599399
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln) rs769259446
NM_003907.3(EIF2B5):c.1016G>C (p.Arg339Pro) rs113994069
NM_003977.2(AIP):c.(?_1)_(*_?)del
NM_003977.2(AIP):c.-1212_279+578del
NM_003977.3(AIP):c.74_81delTCCCGGACins7
NM_003977.3(AIP):c.[-125-145_-125-144delCGinsAA];[-125-95G>A]
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
NM_003977.4(AIP):c.100-1025_279+357del
NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del) rs267606537
NM_003977.4(AIP):c.166C>A (p.Arg56Ser) rs267606538
NM_003977.4(AIP):c.241C>T (p.Arg81Ter) rs267606541
NM_003977.4(AIP):c.245_249del (p.Glu82fs) rs267606542
NM_003977.4(AIP):c.249G>T (p.Gly83=) rs104895072
NM_003977.4(AIP):c.250G>A (p.Glu84Lys) rs267606543
NM_003977.4(AIP):c.280-1G>A rs267606544
NM_003977.4(AIP):c.286_287del (p.Val96fs) rs267606545
NM_003977.4(AIP):c.2T>C (p.Met1Thr) rs267606546
NM_003977.4(AIP):c.308A>G (p.Lys103Arg) rs267606548
NM_003977.4(AIP):c.350del (p.Gly117fs) rs267606549
NM_003977.4(AIP):c.3_4insC (p.Ala2fs) rs267606547
NM_003977.4(AIP):c.404del (p.His135fs) rs267606551
NM_003977.4(AIP):c.424C>T (p.Gln142Ter) rs267606552
NM_003977.4(AIP):c.429G>A (p.Gln143=) rs267606553
NM_003977.4(AIP):c.468+16G>T rs267607273
NM_003977.4(AIP):c.468+1G>A rs267606554
NM_003977.4(AIP):c.469-1G>A rs267606555
NM_003977.4(AIP):c.469-2A>G rs267606556
NM_003977.4(AIP):c.490C>T (p.Gln164Ter) rs104895073
NM_003977.4(AIP):c.500del (p.Pro167fs) rs267606557
NM_003977.4(AIP):c.521_525del (p.Glu174fs) rs267606558
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.550C>T (p.Gln184Ter) rs267606560
NM_003977.4(AIP):c.601A>T (p.Lys201Ter) rs267606563
NM_003977.4(AIP):c.646G>T (p.Glu216Ter) rs267606565
NM_003977.4(AIP):c.649C>T (p.Gln217Ter) rs267606566
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer) rs104895075
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) rs267606567
NM_003977.4(AIP):c.70G>T (p.Glu24Ter) rs267606568
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr) rs267606569
NM_003977.4(AIP):c.714C>T (p.Cys238=) rs267606570
NM_003977.4(AIP):c.715C>T (p.Gln239Ter) rs267606571
NM_003977.4(AIP):c.721A>T (p.Lys241Ter) rs267606573
NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del) rs267606574
NM_003977.4(AIP):c.769A>G (p.Ile257Val) rs267606575
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys) rs267606577
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup) rs267606578
NM_003977.4(AIP):c.811C>T (p.Arg271Trp) rs267606579
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
NM_003977.4(AIP):c.829G>C (p.Ala277Pro) rs267606581
NM_003977.4(AIP):c.854_857del (p.Gln285fs) rs267606582
NM_003977.4(AIP):c.919dup (p.Arg307fs) rs267606589
NM_003977.4(AIP):c.987C>T (p.Ser329=) rs267606587
NM_003982.4(SLC7A7):c.1228C>T (p.Arg410Ter) rs121908678
NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs) rs386833805
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser) rs104894413
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys) rs104894407
NM_004004.6(GJB2):c.136G>A (p.Asp46Asn) rs1064797088
NM_004004.6(GJB2):c.164C>A (p.Thr55Asn) rs1064797089
NM_004004.6(GJB2):c.172C>G (p.Pro58Ala) rs1064797090
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.487A>C (p.Met163Leu) rs80338949
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn) rs28931595
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe) rs104894406
NM_004082.5(DCTN1):c.211G>A (p.Gly71Arg) rs72466485
NM_004085.4(TIMM8A):c.*503_*505dup rs4024308
NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter) rs80356559
NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp) rs80356560
NM_004211.5(SLC6A5):c.1294delinsTT (p.Val432fs) rs281864924
NM_004211.5(SLC6A5):c.1444T>C (p.Trp482Arg) rs281864925
NM_004211.5(SLC6A5):c.1526A>G (p.Asn509Ser) rs121908497
NM_004211.5(SLC6A5):c.1530T>G (p.Ser510Arg) rs281864926
NM_004211.5(SLC6A5):c.1888C>T (p.Gln630Ter) rs121908495
NM_004211.5(SLC6A5):c.323del (p.Pro108fs) rs281864923
NM_004211.5(SLC6A5):c.916C>G (p.Leu306Val) rs121908496
NM_004260.4(RECQL4):c.2059-1G>C rs386833849
NM_004260.4(RECQL4):c.2059-1G>T rs386833849
NM_004260.4(RECQL4):c.2059-78_3201del
NM_004260.4(RECQL4):c.2141_2142del (p.Glu714fs) rs746222099
NM_004260.4(RECQL4):c.2335_2356del (p.Asp779fs) rs2130678086
NM_004260.4(RECQL4):c.2506_2518del (p.Ser836fs) rs2130673134
NM_004260.4(RECQL4):c.3151A>G (p.Ile1051Val) rs1380694111
NM_004260.4(RECQL4):c.496C>T (p.Gln166Ter) rs2130727746
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.5(ALK):c.3520T>G (p.Phe1174Val) rs281864719
NM_004304.5(ALK):c.3733T>G (p.Phe1245Val) rs281864720
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004333.6(BRAF):c.1399T>G (p.Ser467Ala) rs869025606
NM_004333.6(BRAF):c.1408_1410del (p.Thr470del) rs869025607
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004364.5(CEBPA):c.141del (p.Ala48fs) rs137852730
NM_004364.5(CEBPA):c.147_165del (p.Glu50fs) rs2145264004
NM_004364.5(CEBPA):c.158del (p.Gly53fs) rs2145264074
NM_004364.5(CEBPA):c.189del (p.Asp63fs) rs2145263853
NM_004364.5(CEBPA):c.314_315insT (p.Phe106fs) rs2145263088
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter) rs1388478228
NM_004364.5(CEBPA):c.68del (p.Pro23fs) rs137852728
NM_004364.5(CEBPA):c.68dup (p.His24fs) rs137852728
NM_004364.5(CEBPA):c.932A>C (p.Gln311Pro) rs2145258913
NM_004366.6(CLCN2):c.1113delinsACTGCTCAT (p.Ser375fs) rs863225251
NM_004366.6(CLCN2):c.1304del (p.Leu435fs) rs863225253
NM_004366.6(CLCN2):c.130G>A (p.Gly44Arg) rs863225247
NM_004366.6(CLCN2):c.1397G>A (p.Gly466Glu) rs863225254
NM_004366.6(CLCN2):c.1422_1423del (p.Glu475fs) rs863225255
NM_004366.6(CLCN2):c.1499C>T (p.Ala500Val) rs587777111
NM_004366.6(CLCN2):c.1507G>A (p.Gly503Arg) rs777105668
NM_004366.6(CLCN2):c.221-14_221-4del rs515726132
NM_004366.6(CLCN2):c.2273G>A (p.Ser758Asn) rs753380048
NM_004366.6(CLCN2):c.2386C>T (p.Gln796Ter) rs376823689
NM_004366.6(CLCN2):c.430_435del (p.Leu144_Ile145del) rs587777110
NM_004366.6(CLCN2):c.596G>C (p.Gly199Ala) rs863225248
NM_004366.6(CLCN2):c.597dup (p.Met200fs) rs515726131
NM_004366.6(CLCN2):c.64-1107_639del
NM_004366.6(CLCN2):c.828dup (p.Arg277fs) rs587777112
NM_004369.4(COL6A3):c.6210+1G>A rs398124126
NM_004369.4(COL6A3):c.6210+5G>A rs886044593
NM_004385.5(VCAN):c.4004-1G>A rs80356554
NM_004385.5(VCAN):c.4004-1G>C rs80356554
NM_004385.5(VCAN):c.4004-1G>T rs80356554
NM_004385.5(VCAN):c.4004-2A>G rs80356555
NM_004385.5(VCAN):c.4004-2A>T rs80356555
NM_004385.5(VCAN):c.4004-5T>A rs80356556
NM_004385.5(VCAN):c.4004-5T>C rs80356556
NM_004385.5(VCAN):c.4004-6T>A rs864309744
NM_004385.5(VCAN):c.9265+1G>A rs80356553
NM_004385.5(VCAN):c.9265+1G>T rs80356553
NM_004385.5(VCAN):c.9265+2T>A rs397515437
NM_004409.4(DMPK):c.*224CTG[(35_49)]
NM_004423.4(DVL3):c.1585del (p.Ala529fs) rs869025215
NM_004423.4(DVL3):c.1617del (p.Gln539fs) rs1553811652
NM_004423.4(DVL3):c.1715-1G>A rs869025217
NM_004423.4(DVL3):c.1715-2A>G rs869025216
NM_004423.4(DVL3):c.1716del (p.Ser573fs) rs869025218
NM_004423.4(DVL3):c.1749del (p.Ser583fs) rs869025219
NM_004425.4(ECM1):c.506dup (p.Gly170fs) rs869025564
NM_004425.4(ECM1):c.658T>G (p.Cys220Gly) rs869025566
NM_004425.4(ECM1):c.727C>T (p.Arg243Ter) rs746217361
NM_004425.4(ECM1):c.742G>T (p.Glu248Ter) rs369508778
NM_004425.4(ECM1):c.826C>T (p.Gln276Ter) rs869025563
NM_004425.4(ECM1):c.93_94delinsTT (p.Arg31_Gln32delinsSerTer) rs869025567
NM_004456.5(EZH2):c.2044G>A (p.Ala682Thr) rs397515547
NM_004456.5(EZH2):c.2233G>A (p.Glu745Lys) rs397515548
NM_004456.5(EZH2):c.395C>T (p.Pro132Leu)
NM_004456.5(EZH2):c.458A>G (p.Tyr153Cys) rs797044844
NM_004519.4(KCNQ3):c.1019G>T (p.Gly340Val) rs2130128165
NM_004519.4(KCNQ3):c.1066G>A (p.Ala356Thr) rs2130121430
NM_004519.4(KCNQ3):c.1142C>T (p.Ala381Val) rs1554626549
NM_004519.4(KCNQ3):c.1657G>A (p.Gly553Arg) rs1825159081
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.680G>A (p.Arg227Gln) rs1826712021
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004519.4(KCNQ3):c.835G>T (p.Val279Phe) rs2130134022
NM_004519.4(KCNQ3):c.895G>A (p.Glu299Lys) rs118192247
NM_004519.4(KCNQ3):c.923G>C (p.Trp308Ser) rs1064794632
NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg) rs118192249
NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val) rs118192250
NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr) rs1586800133
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251
NM_004519.4(KCNQ3):c.989G>A (p.Arg330His) rs1162306056
NM_004519.4(KCNQ3):c.989G>T (p.Arg330Leu) rs1162306056
NM_004525.3(LRP2):c.10195C>T (p.Arg3399Ter) rs80338752
NM_004525.3(LRP2):c.1093C>T (p.Arg365Ter) rs80338744
NM_004525.3(LRP2):c.11469_11472del (p.Cys3823fs) rs80338753
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs) rs80338754
NM_004525.3(LRP2):c.1341+2T>G rs80338745
NM_004525.3(LRP2):c.2640-1G>A rs587776717
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His) rs80338747
NM_004525.3(LRP2):c.770-2A>G rs80338743
NM_004525.3(LRP2):c.8452+1G>A rs80338748
NM_004525.3(LRP2):c.8519_8522del (p.Tyr2840fs) rs80338749
NM_004525.3(LRP2):c.9358_9359del (p.Ser3120fs) rs80338750
NM_004525.3(LRP2):c.9484_9485del (p.Val3162fs) rs80338751
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu) rs1801582
NM_004595.5(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004595.5(SMS):c.174T>A (p.Phe58Leu) rs397515549
NM_004595.5(SMS):c.329+5G>A rs397515381
NM_004595.5(SMS):c.388C>T (p.Arg130Cys) rs1602210346
NM_004595.5(SMS):c.443A>G (p.Gln148Arg) rs397515551
NM_004595.5(SMS):c.908_911del (p.Met303fs) rs1602220706
NM_004608.4(TBX6):c.1311A>T (p.Ter437Cys) rs587777113
NM_004614.4:c.-270+2561delins;7287-7335inv
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) rs137886900
NM_004614.5(TK2):c.575G>A (p.Arg192Lys) rs281865496
NM_004614.5(TK2):c.604_606del (p.Lys202del) rs281865501
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.925-2A>G rs397507561
NM_004700.4(KCNQ4):c.1503C>T (p.Thr501=) rs80358270
NM_004700.4(KCNQ4):c.211del (p.Gln71fs) rs80358272
NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs) rs80358271
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys) rs28937588
NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg) rs137853969
NM_004715.5(CTDP1):c.863+389C>T rs113994102
NM_004733.4(SLC33A1):c.1098C>G (p.Tyr366Ter) rs1308995894
NM_004733.4(SLC33A1):c.1267-1G>A rs1577455897
NM_004733.4(SLC33A1):c.1474_1482+9del rs1577455542
NM_004733.4(SLC33A1):c.328G>C (p.Ala110Pro) rs281875283
NM_004733.4(SLC33A1):c.542_543del (p.Val181fs) rs1577482029
NM_004733.4(SLC33A1):c.614dup (p.Leu205fs) rs863223316
NM_004750.5(CRLF1):c.1121T>G (p.Leu374Arg) rs104894668
NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly) rs137853143
NM_004750.5(CRLF1):c.713dup (p.Pro239fs) rs768727082
NM_004750.5(CRLF1):c.857_864del (p.Val286fs) rs367543004
NM_004937.3(CTNS):c.18_21del (p.Thr7fs) rs786204501
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_004937.3(CTNS):c.397A>T (p.Ile133Phe) rs886040970
NM_004937.3(CTNS):c.544T>C (p.Trp182Arg) rs764168489
NM_004937.3(CTNS):c.559_561+24del rs113994211
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del) rs760256854
NM_004937.3(CTNS):c.696dup (p.Val233fs) rs113994209
NM_004937.3(CTNS):c.853-3C>G rs113994210
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005045.4(RELN):c.2288A>G (p.Asp763Gly) rs794727998
NM_005045.4(RELN):c.2392C>A (p.His798Asn) rs794727996
NM_005045.4(RELN):c.2531C>T (p.Pro844Leu) rs797045000
NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys) rs794727997
NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys) rs794727999
NM_005055.4(RAPSN):c.-199C>G rs886037842
NM_005097.4(LGI1):c.124T>C (p.Cys42Arg) rs797044996
NM_005097.4(LGI1):c.124T>G (p.Cys42Gly) rs797044996
NM_005097.4(LGI1):c.136T>C (p.Cys46Arg) rs104894166
NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu) rs797044999
NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter) rs797044998
NM_005097.4(LGI1):c.758del (p.Ala253fs) rs797044997
NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs) rs397515388
NM_005105.5(RBM8A):c.487C>T (p.Arg163Ter) rs397515389
NM_005120.3(MED12):c.1249-1G>C rs2147783158
NM_005120.3(MED12):c.1547G>A (p.Arg516His) rs1556334969
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln) rs1057519381
NM_005120.3(MED12):c.2207_2210del (p.Thr736fs) rs2147791922
NM_005120.3(MED12):c.2663dup (p.Leu889fs) rs2147796613
NM_005120.3(MED12):c.2669T>A (p.Ile890Asn) rs2147796647
NM_005120.3(MED12):c.2692A>G (p.Asn898Asp) rs2147797665
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu) rs2147797835
NM_005120.3(MED12):c.2786T>A (p.Val929Asp) rs2147798220
NM_005120.3(MED12):c.2861T>G (p.Val954Gly) rs2147799283
NM_005120.3(MED12):c.2873G>A (p.Gly958Glu) rs397515554
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val) rs879255526
NM_005120.3(MED12):c.322C>T (p.Arg108Ter) rs2147773440
NM_005120.3(MED12):c.3271G>A (p.Glu1091Lys) rs2147802318
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) rs1057523906
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys) rs2092311077
NM_005120.3(MED12):c.3646G>A (p.Val1216Met) rs2147805923
NM_005120.3(MED12):c.3653G>A (p.Gly1218Glu) rs2147805960
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.3884G>A (p.Arg1295His) rs1556337063
NM_005120.3(MED12):c.3932T>A (p.Val1311Glu) rs2147808490
NM_005120.3(MED12):c.3935T>C (p.Leu1312Ser) rs2147808505
NM_005120.3(MED12):c.4070G>A (p.Arg1357His) rs2147811858
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.4400G>A (p.Arg1467Gln) rs1488533087
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg) rs794727576
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005120.3(MED12):c.4903_4906delinsCCAGCA (p.Val1635fs) rs2147823333
NM_005120.3(MED12):c.5111G>A (p.Trp1704Ter) rs2147826070
NM_005120.3(MED12):c.514G>C (p.Glu172Gln) rs2147774632
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005120.3(MED12):c.5622C>A (p.Tyr1874Ter) rs2147829167
NM_005120.3(MED12):c.5898dup (p.Ser1967fs) rs879255527
NM_005120.3(MED12):c.5919C>A (p.Tyr1973Ter) rs2147830849
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005120.3(MED12):c.6169C>T (p.Gln2057Ter) rs2147839335
NM_005120.3(MED12):c.6231C>A (p.Tyr2077Ter) rs2147839986
NM_005120.3(MED12):c.6241CAG[3] (p.Gln2084_Gln2086del) rs786200971
NM_005120.3(MED12):c.6268C>T (p.Gln2090Ter) rs2147841562
NM_005120.3(MED12):c.6280C>T (p.Gln2094Ter) rs2147841653
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter) rs2147844887
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_005211.3(CSF1R):c.2467C>T rs690016562
NM_005215.3(DCC):c.698-?_985+?del (p.Asp233_Leu328del)
NM_005215.4(DCC):c.1140+1G>A rs797044553
NM_005215.4(DCC):c.1336_1337insAGCC (p.Arg446fs) rs797044554
NM_005215.4(DCC):c.2407G>A (p.Gly803Arg) rs797044550
NM_005215.4(DCC):c.2873_2877dup (p.Pro960fs) rs797044555
NM_005215.4(DCC):c.377C>A (p.Ser126Ter) rs797044551
NM_005215.4(DCC):c.3836_3837del (p.Leu1279fs) rs797044556
NM_005215.4(DCC):c.571dup (p.Val191fs) rs797044552
NM_005215.4(DCC):c.823C>T (p.Arg275Ter) rs754914260
NM_005247.4(FGF3):c.150C>A (p.Cys50Ter) rs281860301
NM_005247.4(FGF3):c.17T>C (p.Leu6Pro) rs121917706
NM_005247.4(FGF3):c.196G>T (p.Gly66Cys) rs121917705
NM_005247.4(FGF3):c.255del (p.Ile85fs) rs281860302
NM_005247.4(FGF3):c.317A>G (p.Tyr106Cys) rs281860306
NM_005247.4(FGF3):c.394del (p.Arg132fs) rs281860304
NM_005247.4(FGF3):c.457_458del (p.Trp153fs) rs281860307
NM_005247.4(FGF3):c.466T>C (p.Ser156Pro) rs121917703
NM_005247.4(FGF3):c.616del (p.Val206fs) rs281860305
NM_005321.3(H1-4):c.365dup (p.Ala123fs) rs768525914
NM_005321.3(H1-4):c.406_407insT (p.Lys136fs) rs1764192704
NM_005321.3(H1-4):c.407dup (p.Lys137fs) rs1764192628
NM_005321.3(H1-4):c.408dup (p.Lys137fs) rs1581429395
NM_005321.3(H1-4):c.414dup (p.Lys139fs) rs1581429403
NM_005321.3(H1-4):c.416dup (p.Lys140fs) rs1764193257
NM_005321.3(H1-4):c.425_431delinsAGGGGGTT (p.Thr142fs) rs1581429434
NM_005321.3(H1-4):c.425delinsAG (p.Thr142fs) rs1581429431
NM_005321.3(H1-4):c.430dup (p.Ala144fs) rs1131690805
NM_005321.3(H1-4):c.431dup (p.Ala145fs) rs1764194450
NM_005321.3(H1-4):c.433dup (p.Ala145fs) rs1554162872
NM_005321.3(H1-4):c.435dup (p.Thr146fs) rs1764194669
NM_005321.3(H1-4):c.436_458del (p.Thr146fs) rs1131690807
NM_005321.3(H1-4):c.440_441del (p.Pro147fs) rs1131690806
NM_005321.3(H1-4):c.447dup (p.Ser150fs) rs1581429514
NM_005321.3(H1-4):c.454_455insT (p.Lys152fs) rs1554162894
NM_005321.3(H1-4):c.464dup (p.Lys157fs) rs1581429554
NM_005332.2(HBZ):c.330_*22601del
NM_005333.5(HCCS):c.475G>A (p.Glu159Lys) rs193929392
NM_005333.5(HCCS):c.589C>T (p.Arg197Ter) rs121917888
NM_005333.5(HCCS):c.649C>T (p.Arg217Cys) rs121917889
NM_005334.3(HCFC1):c.202C>G (p.Gln68Glu)
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) rs397515487
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.307T>C (p.Tyr103His)
NM_005334.3(HCFC1):c.343G>A (p.Ala115Thr)
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter) rs80338964
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) rs281875320
NM_005378.6(MYCN):c.1105_1106dup (p.Ser369fs) rs1572221400
NM_005378.6(MYCN):c.1117C>T (p.Arg373Ter) rs754137452
NM_005378.6(MYCN):c.1178G>A (p.Arg393His) rs104893646
NM_005378.6(MYCN):c.1181G>A (p.Arg394His) rs104893648
NM_005378.6(MYCN):c.964C>T (p.Arg322Ter) rs759103701
NM_005413.4(SIX3):c.676C>G (p.Leu226Val) rs121917878
NM_005413.4(SIX3):c.696_705del (p.Asn232fs) rs397515502
NM_005413.4(SIX3):c.749T>C (p.Val250Ala) rs121917880
NM_005413.4(SIX3):c.770G>C (p.Arg257Pro) rs121917879
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005465.7(AKT3):c.548T>A (p.Val183Asp) rs886041100
NM_005465.7(AKT3):c.686A>G (p.Asn229Ser) rs397514605
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.38G>C (p.Cys13Ser) rs1209266607
NM_005476.7(GNE):c.788G>T (p.Arg263Leu) rs121908623
NM_005476.7(GNE):c.796C>T (p.Arg266Trp) rs121908621
NM_005476.7(GNE):c.797G>A (p.Arg266Gln) rs121908622
NM_005506.4(SCARB2):c.1016dup (p.His341fs) rs886041077
NM_005506.4(SCARB2):c.1087C>A (p.His363Asn) rs758857853
NM_005506.4(SCARB2):c.1114-2A>C rs727502781
NM_005506.4(SCARB2):c.111del (p.Ile37fs) rs886041072
NM_005506.4(SCARB2):c.1239+1G>T rs727502772
NM_005506.4(SCARB2):c.1258del (p.Glu420fs) rs727502782
NM_005506.4(SCARB2):c.1385_1390delinsATGCATGCACC (p.Gly462fs) rs886041079
NM_005506.4(SCARB2):c.1412A>G (p.Glu471Gly) rs755903502
NM_005506.4(SCARB2):c.296del (p.Asn99fs) rs886041073
NM_005506.4(SCARB2):c.424-2A>C rs886041074
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter) rs121909119
NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer) rs886041075
NM_005506.4(SCARB2):c.704+1G>C rs886041076
NM_005554.4(KRT6A):c.510CAA[2] (p.Asn172del) rs606231214
NM_005554.4(KRT6A):c.511A>G (p.Asn171Asp) rs62635294
NM_005554.4(KRT6A):c.511A>T (p.Asn171Tyr) rs62635294
NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser) rs58556099
NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys) rs59685571
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter) rs80356683
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) rs80338938
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) rs527236146
NM_005609.4(PYGM):c.564C>A (p.Asn188Lys) rs604595
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del) rs80338739
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_005859.5(PURA):c.289A>G (p.Lys97Glu) rs587782994
NM_005859.5(PURA):c.596G>C (p.Arg199Pro) rs587783001
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005859.5(PURA):c.734G>C (p.Arg245Pro) rs1554129118
NM_005859.5(PURA):c.812_814del (p.Phe271del) rs587782991
NM_005982.4(SIX1):c.317T>G (p.Val106Gly) rs397515560
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp) rs80356459
NM_005982.4(SIX1):c.334C>T (p.Arg112Cys) rs397515561
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) rs797044960
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_005982.4(SIX1):c.397_399del (p.Glu133del) rs80356460
NM_005982.4(SIX1):c.50T>A (p.Val17Glu) rs397515562
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His) rs137853044
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His) rs137853050
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) rs137853043
NM_006012.4(CLPP):c.270+4A>G rs398123035
NM_006012.4(CLPP):c.433A>C (p.Thr145Pro) rs398123033
NM_006012.4(CLPP):c.440G>C (p.Cys147Ser) rs398123034
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys) rs864321717
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys) rs267607165
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn) rs267607164
NM_006086.4(TUBB3):c.1249G>C (p.Asp417His) rs267607164
NM_006086.4(TUBB3):c.185G>A (p.Arg62Gln) rs864321714
NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg) rs864321715
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys) rs267607162
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr) rs267607163
NM_006087.3:c.900C>A
NM_006087.4(TUBB4A):c.1054G>A (p.Ala352Thr) rs886041015
NM_006087.4(TUBB4A):c.1061G>A (p.Cys354Tyr) rs886041016
NM_006087.4(TUBB4A):c.1091C>A (p.Ala364Asp) rs886041017
NM_006087.4(TUBB4A):c.1099T>A (p.Phe367Ile) rs886041018
NM_006087.4(TUBB4A):c.1099T>C (p.Phe367Leu) rs886041018
NM_006087.4(TUBB4A):c.1162A>G (p.Met388Val) rs886041019
NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr) rs886041020
NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile) rs797045074
NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His) rs886041021
NM_006087.4(TUBB4A):c.1181T>G (p.Phe394Cys) rs886041022
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu) rs587777429
NM_006087.4(TUBB4A):c.4C>G (p.Arg2Gly) rs587776983
NM_006087.4(TUBB4A):c.4C>T (p.Arg2Trp) rs587776983
NM_006087.4(TUBB4A):c.533C>G (p.Thr178Arg) rs587777468
NM_006087.4(TUBB4A):c.533C>T (p.Thr178Met) rs587777468
NM_006087.4(TUBB4A):c.544C>A (p.Pro182Thr) rs886041008
NM_006087.4(TUBB4A):c.568C>T (p.His190Tyr) rs761635539
NM_006087.4(TUBB4A):c.5G>A (p.Arg2Gln) rs587777467
NM_006087.4(TUBB4A):c.716G>T (p.Cys239Phe) rs886041009
NM_006087.4(TUBB4A):c.730G>A (p.Gly244Ser) rs886041007
NM_006087.4(TUBB4A):c.731G>A (p.Gly244Asp) rs886041010
NM_006087.4(TUBB4A):c.731G>T (p.Gly244Val) rs886041010
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) rs483352809
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) rs767399782
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His) rs886039470
NM_006087.4(TUBB4A):c.845G>C (p.Arg282Pro) rs756762431
NM_006087.4(TUBB4A):c.874C>A (p.Gln292Lys) rs886041011
NM_006087.4(TUBB4A):c.900G>T (p.Met300Ile) rs886041012
NM_006087.4(TUBB4A):c.941C>T (p.Ala314Val) rs886041013
NM_006087.4(TUBB4A):c.968T>G (p.Met323Arg) rs886041014
NM_006147.4(IRF6):c.-3-3C>A rs1404291807
NM_006147.4(IRF6):c.1279G>T (p.Asp427Tyr) rs2102534810
NM_006147.4(IRF6):c.250C>G (p.Arg84Gly) rs121434226
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) rs121434226
NM_006147.4(IRF6):c.251G>A (p.Arg84His) rs121434227
NM_006147.4(IRF6):c.251G>C (p.Arg84Pro) rs121434227
NM_006158.5(NEFL):c.1001A>C (p.Gln334Pro) rs281865140
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.446C>T (p.Ala149Val) rs59101996
NM_006158.5(NEFL):c.64C>A (p.Pro22Thr) rs28928910
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.5(NEFL):c.65C>G (p.Pro22Arg) rs267607538
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys) rs863225080
NM_006245.4(PPP2R5D):c.157C>T (p.Pro53Ser) rs757369209
NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys) rs863225081
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006245.4(PPP2R5D):c.602C>G (p.Pro201Arg) rs876657383
NM_006245.4(PPP2R5D):c.619T>A (p.Trp207Arg) rs869320691
NM_006261.5(PROP1):c.112_124del (p.Ser38fs) rs587776682
NM_006261.5(PROP1):c.263T>C (p.Phe88Ser) rs121917841
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006265.3(RAD21):c.1127C>G (p.Pro376Arg) rs387907212
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg) rs387907213
NM_006267.5(RANBP2):c.1958C>T (p.Thr653Ile) rs121434503
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) rs121434504
NM_006329.4(FBLN5):c.1090G>T (p.Asp364Tyr) rs1802492
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter) rs80338767
NM_006329.4(FBLN5):c.432C>G (p.Cys144Trp)
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg) rs80338766
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro) rs28939370
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp) rs145415848
NM_006392.3(NOP56):c.3+71_3+76GGCCTG(3_14)
NM_006392.4(NOP56):c.3+71GGCCTG[(650_?)]
NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser) rs76857106
NM_006397.3(RNASEH2A):c.207dup (p.Thr70fs) rs77672568
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006397.3(RNASEH2A):c.690C>A (p.Phe230Leu) rs79767407
NM_006397.3(RNASEH2A):c.716_717dup (p.Thr240fs) rs78705193
NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=) rs397515479
NM_006412.3(AGPAT2):c.(316+1_317-1)_(588+1_589-1)del (p.Leu107AlafsTer279)
NM_006412.4(AGPAT2):c.182+1G>A rs1057517650
NM_006412.4(AGPAT2):c.183-2A>G rs1057517649
NM_006412.4(AGPAT2):c.194G>A (p.Trp65Ter) rs1057517651
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu) rs886063722
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys) rs748157664
NM_006412.4(AGPAT2):c.538del (p.Asp180fs) rs1057517653
NM_006412.4(AGPAT2):c.661+2T>G rs1057517654
NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter) rs1057517655
NM_006412.4(AGPAT2):c.713C>G (p.Ala238Gly) rs200656731
NM_006412.4(AGPAT2):c.755_763del (p.Met252_Thr254del) rs1057517656
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) rs119482081
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) rs119482082
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.5(NPC2):c.199T>C (p.Ser67Pro) rs11694
NM_006432.5(NPC2):c.27del (p.Leu10fs) rs80358267
NM_006432.5(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) rs104894385
NM_006502.2(POLH):c.1075-?_1244+?del
NM_006502.3(POLH):c.1664del (p.Asn555fs) rs886039225
NM_006502.3(POLH):c.916G>T (p.Glu306Ter) rs121908562
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.377G>T (p.Arg126Leu) rs80359816
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) rs80359822
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp) rs104894939
NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro) rs367543059
NM_006517.5(SLC16A2):c.1276TTC[1] (p.Phe427del) rs113994164
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro) rs104894938
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs) rs113994166
NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe) rs113994162
NM_006567.5(FARS2):c.424G>T (p.Asp142Tyr) rs145555213
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006701.2:c.Exon 3 deletion
NM_006701.5(TXNL4A):c.153+3A>G rs879255559
NM_006701.5(TXNL4A):c.154-959_257+638del
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile) rs28937597
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr) rs151344512
NM_006796.3(AFG3L2):c.1958dup (p.Thr654fs) rs2143124461
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr) rs151344515
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg) rs151344515
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg) rs151344517
NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu) rs151344518
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr) rs797045221
NM_006796.3(AFG3L2):c.2065T>A (p.Tyr689Asn) rs1598820860
NM_006796.3(AFG3L2):c.2098G>A (p.Glu700Lys) rs151344522
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) rs267607276
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) rs267607277
NM_006894.4(FMO3):c.[472G>A;560T>C]
NM_006894.4(FMO3):c.[472G>A;923A>G]
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_007055.4(POLR3A):c.1048+1G>A rs2131958310
NM_007055.4(POLR3A):c.1160C>G (p.Ala387Gly) rs1307896663
NM_007055.4(POLR3A):c.1186G>T (p.Val396Leu) rs1428468560
NM_007055.4(POLR3A):c.1289+3A>C rs750084731
NM_007055.4(POLR3A):c.1433C>G (p.Ala478Gly) rs946655603
NM_007055.4(POLR3A):c.1658C>T (p.Thr553Ile) rs1847450791
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu) rs267608668
NM_007055.4(POLR3A):c.1740dup (p.Val581fs) rs781745727
NM_007055.4(POLR3A):c.1771-6C>G rs115020338
NM_007055.4(POLR3A):c.1797G>C (p.Gln599His) rs2131949315
NM_007055.4(POLR3A):c.1804A>C (p.Ser602Arg) rs762708292
NM_007055.4(POLR3A):c.1907C>A (p.Ser636Tyr) rs267608676
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.1935G>C (p.Leu645Phe) rs751735990
NM_007055.4(POLR3A):c.2005C>G (p.Arg669Gly) rs774007232
NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg) rs1446265632
NM_007055.4(POLR3A):c.2039T>C (p.Met680Thr) rs2131947804
NM_007055.4(POLR3A):c.2098A>T (p.Ile700Phe) rs746116821
NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr) rs267608679
NM_007055.4(POLR3A):c.2324A>T (p.Asn775Ile) rs267608672
NM_007055.4(POLR3A):c.2411T>C (p.Ile804Thr) rs1847352019
NM_007055.4(POLR3A):c.2547C>G (p.Phe849Leu) rs1847342207
NM_007055.4(POLR3A):c.2549A>G (p.His850Arg) rs2131942139
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) rs267608671
NM_007055.4(POLR3A):c.2618G>A (p.Arg873Gln) rs2131937171
NM_007055.4(POLR3A):c.2660A>T (p.Asp887Val) rs1467597625
NM_007055.4(POLR3A):c.2690T>A (p.Ile897Asn) rs267608681
NM_007055.4(POLR3A):c.2710G>A (p.Gly904Arg) rs748548960
NM_007055.4(POLR3A):c.272C>T (p.Pro91Leu) rs1375717376
NM_007055.4(POLR3A):c.2810A>T (p.Glu937Val) rs1210221584
NM_007055.4(POLR3A):c.2821A>C (p.Ser941Arg) rs1259778579
NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter) rs267608674
NM_007055.4(POLR3A):c.2988+1G>T rs201733323
NM_007055.4(POLR3A):c.3205C>T (p.Arg1069Trp) rs1476819432
NM_007055.4(POLR3A):c.364AAG[1] (p.Lys123del) rs780755978
NM_007055.4(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro) rs267608669
NM_007055.4(POLR3A):c.3745A>C (p.Asn1249His) rs1847152494
NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter) rs267608675
NM_007055.4(POLR3A):c.441dup (p.Asp148Ter) rs2131961013
NM_007055.4(POLR3A):c.552_553delinsT (p.Lys184fs) rs2131960689
NM_007055.4(POLR3A):c.930G>C (p.Trp310Cys) rs1217230904
NM_007118.4(TRIO):c.3239A>T (p.Asn1080Ile) rs879255628
NM_007118.4(TRIO):c.3752del (p.Asp1251fs) rs879255623
NM_007118.4(TRIO):c.4128G>A (p.Trp1376Ter) rs879255622
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007118.4(TRIO):c.4381C>A (p.Pro1461Thr) rs879255627
NM_007118.4(TRIO):c.4466del (p.Gln1489fs) rs879255625
NM_007118.4(TRIO):c.649A>T (p.Arg217Ter) rs879255624
NM_007129.4(ZIC2):c.177_178ins56
NM_007129.5(ZIC2):c.1042_1048del (p.Glu348fs) rs397515365
NM_007129.5(ZIC2):c.1091_1092del (p.Gln364fs) rs397515500
NM_007129.5(ZIC2):c.1318dup (p.Leu440fs) rs397515364
NM_007129.5(ZIC2):c.1366GCN[45] (p.Ala456[15])
NM_007129.5(ZIC2):c.936del (p.Lys312fs) rs397515499
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) rs515726210
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007348.4(ATF6):c.1533+1G>C rs797045172
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys) rs80356733
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_007375.4(TARDBP):c.1121dup (p.Tyr374Ter) rs80356737
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg) rs797044594
NM_007375.4(TARDBP):c.1153T>G (p.Trp385Gly) rs797044595
NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly) rs80356717
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser) rs80356723
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) rs4884357
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr) rs80356726
NM_012144.4(DNAI1):c.2001+1G>A rs397515563
NM_012203.1(GRHPR):c.866-25CT[9] rs34302950
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
NM_012208.4(HARS2):c.1010A>G (p.Tyr337Cys)
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu) rs376177973
NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs) rs730882182
NM_012233.3(RAB3GAP1):c.2865_2866insTTCT (p.Pro956fs) rs1553450718
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro) rs587777154
NM_012233.3(RAB3GAP1):c.560G>C (p.Arg187Pro) rs1553444935
NM_012233.3(RAB3GAP1):c.649-2A>G rs730882183
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val) rs587777155
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012233.3(RAB3GAP1):c.9del (p.Asp4fs) rs1553437083
NM_012330.4(KAT6B):c.2299C>T (p.His767Tyr) rs1589750251
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=) rs886041207
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs) rs199470470
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) rs199470482
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) rs199470484
NM_012414.4(RAB3GAP2):c.3154G>T (p.Gly1052Cys) rs121434310
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) rs1553278569
NM_012463.4(ATP6V0A2):c.*115C>T rs367543009
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter) rs80356755
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) rs80356756
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del rs367543007
NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn) rs367543008
NM_012463.4(ATP6V0A2):c.294+1G>A rs80356751
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs) rs80356752
NM_012463.4(ATP6V0A2):c.732-2A>G rs80356753
NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs) rs80356754
NM_012472.6(DNAAF11):c.574C>T (p.Gln192Ter) rs141945265
NM_012472.6(DNAAF11):c.576dup (p.Glu193fs) rs397515425
NM_012472.6(DNAAF11):c.630del (p.Trp210fs) rs760123202
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(360_370)
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(400_760)
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(800_4500)
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[280]
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[850]
NM_013236.5(ATXN10):c.1173+54822_1173ATTCT[10_32] rs60726084
NM_013266.4(CTNNA3):c.2293TTG[1] (p.Leu766del) rs587777135
NM_013266.4(CTNNA3):c.281T>A (p.Val94Asp) rs587777134
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys) rs863225429
NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala) rs863225428
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn) rs281864934
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr) rs63750653
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter) rs63750355
NM_014043.4(CHMP2B):c.532-1G>A rs63750652
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His) rs63751126
NM_014112.4(TRPS1):c.(2823+1_2824-1)_(*1_?)del
NM_014112.5(TRPS1):c.1010_1014dup (p.Cys339fs) rs1554596430
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter) rs1554596393
NM_014112.5(TRPS1):c.1105C>T (p.Gln369Ter) rs1554596391
NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter) rs1554596328
NM_014112.5(TRPS1):c.1231dup (p.Gln411fs) rs1554596300
NM_014112.5(TRPS1):c.1460del (p.Lys487fs) rs1554596193
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter) rs121908431
NM_014112.5(TRPS1):c.1882C>T (p.Gln628Ter) rs1554595930
NM_014112.5(TRPS1):c.2094C>A (p.Tyr698Ter) rs1554595857
NM_014112.5(TRPS1):c.2179_2180del (p.Val727fs) rs1554593099
NM_014112.5(TRPS1):c.2355_2356del (p.Lys786fs) rs1554592995
NM_014112.5(TRPS1):c.2394dup (p.Ser799fs) rs1554592981
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter) rs121908432
NM_014112.5(TRPS1):c.2731A>T (p.Asn911Tyr) rs1554617581
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser) rs1554617580
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro) rs1554617573
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter) rs751565386
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln) rs121908435
NM_014112.5(TRPS1):c.2762G>C (p.Arg921Pro) rs121908435
NM_014112.5(TRPS1):c.2783_2784insC (p.Val929fs) rs1554617567
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr) rs1057518972
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val) rs121908436
NM_014112.5(TRPS1):c.2801G>T (p.Gly934Val) rs1554617561
NM_014112.5(TRPS1):c.2823+1G>T rs1554617549
NM_014112.5(TRPS1):c.2824-23T>G rs752405769
NM_014112.5(TRPS1):c.2852_2859dup (p.Gly954fs) rs1554617078
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys) rs28939069
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His) rs28939070
NM_014112.5(TRPS1):c.2981_2984del (p.Glu994fs) rs1554617011
NM_014112.5(TRPS1):c.3077del (p.Ser1026fs) rs1554616971
NM_014112.5(TRPS1):c.3140del (p.Pro1047fs) rs1554616950
NM_014112.5(TRPS1):c.3424del (p.Ser1142fs) rs1554616802
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014159.7(SETD2):c.5219G>A (p.Arg1740Gln) rs2107651195
NM_014191.4(SCN8A):c.629T>C (p.Phe210Ser) rs879255693
NM_014191.4(SCN8A):c.641G>A (p.Gly214Asp) rs879255694
NM_014191.4(SCN8A):c.643A>G (p.Asn215Asp) rs879255695
NM_014191.4(SCN8A):c.647T>A (p.Val216Asp) rs879255696
NM_014191.4(SCN8A):c.667A>G (p.Arg223Gly) rs672601319
NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp) rs80338724
NM_014251.3(SLC25A13):c.15G>A (p.Lys5=) rs80338715
NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter) rs80338727
NM_014251.3(SLC25A13):c.615+1G>C rs80338718
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del) rs202247803
NM_014252.4(SLC25A15):c.569G>A (p.Gly190Asp) rs202247804
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg) rs202247805
NM_014252.4(SLC25A15):c.847C>T (p.Leu283Phe) rs202247809
NM_014252.4(SLC25A15):c.95C>G (p.Thr32Arg) rs121908536
NM_014297.3(ETHE1):c.-83_-79delCGCCC rs1211555765
NM_014297.5(ETHE1):c.113A>G (p.Tyr38Cys) rs1555765564
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs) rs761827730
NM_014297.5(ETHE1):c.164T>C (p.Leu55Pro) rs182983506
NM_014297.5(ETHE1):c.222_223insA (p.Ala75fs) rs1555765528
NM_014297.5(ETHE1):c.230del (p.Asn77fs) rs1555765481
NM_014297.5(ETHE1):c.34C>T (p.Gln12Ter) rs1555765701
NM_014297.5(ETHE1):c.406A>G (p.Thr136Ala) rs1284200516
NM_014297.5(ETHE1):c.440_450del (p.His147fs) rs1555762753
NM_014297.5(ETHE1):c.455C>T (p.Thr152Ile) rs1317633085
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr) rs1555762722
NM_014297.5(ETHE1):c.487C>G (p.Arg163Gly) rs28940289
NM_014297.5(ETHE1):c.505+1G>T rs935855792
NM_014297.5(ETHE1):c.592dup (p.His198fs) rs1555762070
NM_014297.5(ETHE1):c.604dup (p.Val202fs) rs1555761934
NM_014297.5(ETHE1):c.66del (p.Ile23fs) rs1555765689
NM_014317.5(PDSS1):c.1108A>C (p.Ser370Arg) rs1057519354
NM_014317.5(PDSS1):c.661_662insT (p.Arg221fs) rs1057519353
NM_014317.5(PDSS1):c.924T>G (p.Asp308Glu) rs119463988
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro) rs62637010
NM_014336.5(AIPL1):c.617T>A (p.Ile206Asn) rs62637011
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_014425.5(INVS):c.1417del (p.Ala473fs) rs878855332
NM_014425.5(INVS):c.3125del (p.Asn1042fs) rs878855333
NM_014491.4(FOXP2):c.1168_1169del (p.Gln390fs) rs879253771
NM_014491.4(FOXP2):c.1217T>C (p.Met406Thr) rs1343377230
NM_014491.4(FOXP2):c.1432C>T (p.Arg478Ter) rs1474090446
NM_014491.4(FOXP2):c.1514C>T (p.Pro505Leu) rs758513311
NM_014491.4(FOXP2):c.1591T>C (p.Tyr531His) rs879253772
NM_014491.4(FOXP2):c.1607G>C (p.Arg536Pro) rs758427088
NM_014491.4(FOXP2):c.1614del (p.Phe538fs) rs2129341028
NM_014491.4(FOXP2):c.1658G>A (p.Arg553His) rs121908377
NM_014491.4(FOXP2):c.1690C>T (p.Arg564Ter) rs2129341954
NM_014491.4(FOXP2):c.483ACAACAGCAGCA[3] (p.Gln188_Gln191dup) rs761316361
NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter) rs121908378
NM_014694.4(ADAMTSL2):c.2431G>A (p.Gly811Arg) rs113994124
NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter) rs113994125
NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His) rs113994122
NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu) rs113994121
NM_014727.3(KMT2B):c.4622C>T (p.Ala1541Val) rs1568377293
NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp) rs80338865
NM_014846.4(WASHC5):c.1857G>T (p.Leu619Phe) rs80338866
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) rs80338867
NM_014846.4(WASHC5):c.2087G>C (p.Gly696Ala) rs397515564
NM_014846.4(WASHC5):c.3335+2T>A rs398123007
NM_015046.7(SETX):c.193G>A (p.Glu65Lys) rs1554825315
NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter) rs869312833
NM_015100.4(POGZ):c.3041del (p.Gln1014fs) rs796052217
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015100.4(POGZ):c.3936del (p.Ile1312fs) rs2102141341
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter) rs137852922
NM_015166.4(MLC1):c.135dup (p.Cys46fs) rs80358241
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu) rs80358242
NM_015166.4(MLC1):c.298_423+108del rs1555967644
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp) rs764669598
NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs) rs2146772952
NM_015340.4(LARS2):c.1077del (p.Ile360fs) rs398123037
NM_015340.4(LARS2):c.351G>C (p.Met117Ile)
NM_015359.6(SLC39A14):c.477_478del (p.Ser160fs) rs879253765
NM_015359.6(SLC39A14):c.512G>A (p.Gly171Glu) rs1554519303
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg) rs1555575860
NM_015386.3(COG4):c.1546G>C (p.Gly516Arg) rs1555575860
NM_015443.4(KANSL1):c.1652+1G>A rs281865470
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_015443.4(KANSL1):c.1867_1870del (p.Ile623fs) rs281865472
NM_015443.4(KANSL1):c.2785_2786del (p.Arg929fs) rs281865471
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter) rs281865468
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_015450.3(POT1):c.1227A>G (p.Pro409=) rs552835784
NM_015450.3(POT1):c.349C>T (p.Arg117Cys) rs780936436
NM_015450.3(POT1):c.809G>A (p.Ser270Asn) rs587777477
NM_015474.3(SAMHD1):c.-6085_209-1941del
NM_015474.4(SAMHD1):c.1106T>C (p.Leu369Ser) rs515726139
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val) rs515726140
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.4(SAMHD1):c.1503+1G>T rs515726142
NM_015474.4(SAMHD1):c.1609-1G>C rs515726143
NM_015474.4(SAMHD1):c.359_370del (p.Asp120_His123del) rs515726144
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln) rs515726145
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter) rs121434518
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val) rs121434521
NM_015488.5(PNKD):c.20C>T (p.Ala7Val) rs121434512
NM_015488.5(PNKD):c.26C>T (p.Ala9Val) rs121434511
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015702.3(MMADHC):c.133dup (p.Ala45fs) rs864309740
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter) rs118204047
NM_015702.3(MMADHC):c.228dup (p.Asn77fs) rs864309741
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup) rs397509362
NM_015702.3(MMADHC):c.455dup (p.Cys153fs) rs864309743
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer) rs397509361
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs) rs864309742
NM_015713.5(RRM2B):c.1046C>G (p.Ala349Gly) rs515726202
NM_015713.5(RRM2B):c.121C>T (p.Arg41Trp) rs515726181
NM_015713.5(RRM2B):c.122G>A (p.Arg41Gln) rs200273673
NM_015713.5(RRM2B):c.122G>C (p.Arg41Pro) rs200273673
NM_015713.5(RRM2B):c.190T>C (p.Trp64Arg) rs515726182
NM_015713.5(RRM2B):c.208G>A (p.Asp70Asn) rs515726183
NM_015713.5(RRM2B):c.368T>C (p.Phe123Ser) rs515726187
NM_015713.5(RRM2B):c.580G>A (p.Glu194Lys) rs121918308
NM_015713.5(RRM2B):c.581A>G (p.Glu194Gly) rs515726191
NM_015713.5(RRM2B):c.583G>A (p.Gly195Arg) rs515726192
NM_015713.5(RRM2B):c.584del (p.Gly195fs) rs515726193
NM_015713.5(RRM2B):c.606T>A (p.Phe202Leu) rs515726194
NM_015713.5(RRM2B):c.707G>T (p.Cys236Phe) rs121918309
NM_015713.5(RRM2B):c.850C>T (p.Gln284Ter) rs121918307
NM_015713.5(RRM2B):c.920del (p.Asn307fs) rs515726197
NM_015713.5(RRM2B):c.949T>G (p.Leu317Val) rs515726198
NM_015713.5(RRM2B):c.950del (p.Ser316_Leu317insTer) rs515726199
NM_015713.5(RRM2B):c.952G>T (p.Glu318Ter) rs515726200
NM_015713.5(RRM2B):c.965dup (p.Asn322fs) rs515726201
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter) rs121918310
NM_015915.5(ATL1):c.1222A>G (p.Met408Val) rs28939094
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.129C>G (p.Asp43Glu) rs17850684
NM_015915.5(ATL1):c.1519dup (p.Ile507fs) rs863223314
NM_015915.5(ATL1):c.467C>T (p.Thr156Ile) rs137852657
NM_015915.5(ATL1):c.470T>G (p.Leu157Trp) rs119476051
NM_015915.5(ATL1):c.578T>G (p.Phe193Cys) rs17850683
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_015915.5(ATL1):c.773A>G (p.His258Arg) rs119476048
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys) rs137853863
NM_015922.3(NSDHL):c.1098dup (p.Arg367fs) rs121909834
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.455G>A (p.Gly152Asp)
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_015922.3(NSDHL):c.693GAA[1] (p.Lys232del) rs121909833
NM_015972.4(POLR1D):c.163C>G (p.Leu55Val) rs587777841
NM_016035.5(COQ4):c.155T>C (p.Leu52Ser) rs786204770
NM_016035.5(COQ4):c.433C>G (p.Arg145Gly) rs774395996
NM_016035.5(COQ4):c.518CCA[1] (p.Thr174del) rs786204771
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.297_300del (p.Glu99fs) rs113993994
NM_016038.4(SBDS):c.624+1G>C rs113993997
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_016180.5(SLC45A2):c.208T>C (p.Tyr70His) rs2112021025
NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn) rs121912621
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter) rs749597091
NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter) rs749597091
NM_016194.4(GNB5):c.262del (p.Glu88fs) rs768022031
NM_016194.4(GNB5):c.348_352del (p.Asp116fs) rs1085307675
NM_016194.4(GNB5):c.368C>G (p.Ser123Trp)
NM_016222.4(DDX41):c.1496dup (p.Ala500fs) rs753425379
NM_016222.4(DDX41):c.1574G>A (p.Arg525His) rs869312828
NM_016222.4(DDX41):c.19G>T (p.Glu7Ter) rs749405703
NM_016222.4(DDX41):c.62_63del (p.Ser21fs) rs756004929
NM_016628.5(WAC):c.1648C>T (p.Arg550Ter) rs1554791943
NM_016628.5(WAC):c.1885_1886del (p.Leu629fs) rs1554792658
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs) rs193302865
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr) rs193302868
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys) rs119489101
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val) rs193302869
NM_016938.5(EFEMP2):c.577del (p.Gln193fs) rs193302870
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) rs193302866
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) rs119489102
NM_017654.4(SAMD9):c.1376G>A (p.Arg459Gln) rs1584254152
NM_017654.4(SAMD9):c.2920G>A (p.Glu974Lys) rs1554336981
NM_017654.4(SAMD9):c.3878G>A (p.Arg1293Gln) rs1791543423
NM_017671.4(FERMT1):c.0_-19+470del
NM_017671.4:c.676insC
NM_017671.5(FERMT1):c.-20A>G rs869312722
NM_017671.5(FERMT1):c.1139+2T>C rs869312727
NM_017671.5(FERMT1):c.1176T>G (p.Tyr392Ter) rs869312730
NM_017671.5(FERMT1):c.1383C>A (p.Tyr461Ter) rs142328166
NM_017671.5(FERMT1):c.456dup (p.Asp153fs) rs2123144933
NM_017671.5(FERMT1):c.550dup (p.Ser184fs) rs869312724
NM_017671.5(FERMT1):c.676C>T (p.Gln226Ter) rs767540244
NM_017671.5(FERMT1):c.676dup (p.Gln226fs) rs748240859
NM_017671.5(FERMT1):c.850-272_1139+53del
NM_017671.5(FERMT1):c.889A>G (p.Arg297Gly) rs779612399
NM_017671.5(FERMT1):c.957+1G>A rs869312725
NM_017671.5(FERMT1):c.994_995del (p.Gln332fs) rs866141540
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017802.4(DNAAF5):c.2384T>C (p.Leu795Pro) rs397514561
NM_017838.4(NHP2):c.376G>A (p.Val126Met) rs121908090
NM_017838.4(NHP2):c.415T>C (p.Tyr139His) rs121908089
NM_017838.4(NHP2):c.460T>A (p.Ter154Arg) rs121908091
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_017841.4(SDHAF2):c.232G>C (p.Gly78Arg)
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_017946.4(FKBP14):c.143T>A (p.Met48Lys) rs1583738267
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_017946.4(FKBP14):c.570AGA[1] (p.Glu191del) rs1430849353
NM_017950.4(CCDC40):c.2824_2825insTGT (p.Arg942delinsMetTrp) rs587778819
NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp) rs587777047
NM_018082.6(POLR3B):c.1101+1G>C rs773891661
NM_018082.6(POLR3B):c.1112_1113del (p.Leu371fs) rs2037451732
NM_018082.6(POLR3B):c.1325G>T (p.Arg442Leu) rs201153027
NM_018082.6(POLR3B):c.1346T>C (p.Leu449Pro) rs2137002042
NM_018082.6(POLR3B):c.1477G>T (p.Val493Phe) rs1396040670
NM_018082.6(POLR3B):c.1508C>A (p.Thr503Lys) rs267608683
NM_018082.6(POLR3B):c.1533del (p.Ile511fs) rs267608684
NM_018082.6(POLR3B):c.1579T>C (p.Cys527Arg) rs2137003969
NM_018082.6(POLR3B):c.1788C>A (p.Tyr596Ter) rs2137008757
NM_018082.6(POLR3B):c.1939G>A (p.Glu647Lys) rs755658678
NM_018082.6(POLR3B):c.2083+1G>A rs7133068
NM_018082.6(POLR3B):c.2180T>C (p.Leu727Ser) rs758867273
NM_018082.6(POLR3B):c.2190del (p.Phe730fs) rs2137027936
NM_018082.6(POLR3B):c.2683G>A (p.Asp895Asn) rs1428989000
NM_018082.6(POLR3B):c.2686A>T (p.Lys896Ter) rs267608685
NM_018082.6(POLR3B):c.2707del (p.Gln903fs) rs2137036995
NM_018082.6(POLR3B):c.2778C>G (p.Asp926Glu) rs267608689
NM_018082.6(POLR3B):c.2918G>T (p.Cys973Phe) rs2137076093
NM_018082.6(POLR3B):c.2920G>T (p.Glu974Ter) rs2137076107
NM_018082.6(POLR3B):c.3005T>C (p.Ile1002Thr) rs2038598006
NM_018082.6(POLR3B):c.303+1G>A rs2036573956
NM_018082.6(POLR3B):c.3071C>T (p.Ala1024Val) rs2137084674
NM_018082.6(POLR3B):c.312G>T (p.Leu104Phe) rs2136887072
NM_018082.6(POLR3B):c.3349C>G (p.Leu1117Val) rs2137097735
NM_018082.6(POLR3B):c.3352C>T (p.Gln1118Ter) rs2137097739
NM_018082.6(POLR3B):c.79T>C (p.Trp27Arg) rs2136879253
NM_018082.6(POLR3B):c.802A>G (p.Ser268Gly) rs2136917152
NM_018082.6(POLR3B):c.832_833dup (p.Thr279fs) rs1261509815
NM_018082.6(POLR3B):c.967-15A>G rs764250049
NM_018122.5(DARS2):c.228-21_228-20delinsC rs1553201258
NM_018136.5(ASPM):c.1002del (p.Leu334_Val335insTer) rs199422136
NM_018136.5(ASPM):c.10059C>A (p.Tyr3353Ter) rs199422201
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs) rs199422137
NM_018136.5(ASPM):c.1179del (p.Asn394fs) rs199422138
NM_018136.5(ASPM):c.1260_1266del (p.Gln421fs) rs199422139
NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter) rs199422141
NM_018136.5(ASPM):c.1406_1413del (p.Asn469fs) rs199422142
NM_018136.5(ASPM):c.1590del (p.Lys530_Val531insTer) rs199422143
NM_018136.5(ASPM):c.1631_1635del (p.Tyr544fs) rs199422144
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.1990C>T (p.Gln664Ter) rs199422148
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.2606C>T (p.Thr869Ile) rs7551108
NM_018136.5(ASPM):c.2761-25A>G rs199422149
NM_018136.5(ASPM):c.2779T>C (p.Leu927=) rs199422129
NM_018136.5(ASPM):c.2936+5G>T rs199422150
NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter) rs199422151
NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter) rs199422152
NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter) rs199422153
NM_018136.5(ASPM):c.3082G>A (p.Gly1028Arg) rs199422154
NM_018136.5(ASPM):c.3188T>G (p.Leu1063Ter) rs199422155
NM_018136.5(ASPM):c.3477_3481del (p.Ala1160fs) rs199422156
NM_018136.5(ASPM):c.3527C>G (p.Ser1176Ter) rs199422157
NM_018136.5(ASPM):c.3663del (p.Arg1221fs) rs199422158
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter) rs199422159
NM_018136.5(ASPM):c.3741+1G>A rs199422160
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter) rs137852995
NM_018136.5(ASPM):c.4074G>A (p.Trp1358Ter) rs199422162
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.440del (p.Lys147fs) rs199422133
NM_018136.5(ASPM):c.4583del (p.Lys1528fs) rs199422164
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.4858_4859del (p.Ile1620fs) rs199422166
NM_018136.5(ASPM):c.5149del (p.Lys1716_Ile1717insTer) rs199422167
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter) rs199422134
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs) rs199422169
NM_018136.5(ASPM):c.6651_6654del (p.Thr2218fs) rs199422170
NM_018136.5(ASPM):c.6732del (p.Tyr2245fs) rs199422171
NM_018136.5(ASPM):c.719_720del (p.Ser240fs) rs199422135
NM_018136.5(ASPM):c.7461T>A (p.Ile2487=) rs199422130
NM_018136.5(ASPM):c.7491_7495del (p.Thr2499fs) rs199422172
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=) rs41308365
NM_018136.5(ASPM):c.7761T>G (p.Tyr2587Ter) rs189678019
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.77del (p.Gly26fs) rs199422131
NM_018136.5(ASPM):c.7860_7861del (p.Gln2620fs) rs199422174
NM_018136.5(ASPM):c.7894C>T (p.Gln2632Ter) rs199422175
NM_018136.5(ASPM):c.8131_8132del (p.Lys2711fs) rs199422176
NM_018136.5(ASPM):c.8191_8192del (p.Glu2731fs) rs199422177
NM_018136.5(ASPM):c.8273T>A (p.Leu2758Ter) rs199422178
NM_018136.5(ASPM):c.8378del (p.Met2793fs) rs199422179
NM_018136.5(ASPM):c.848C>T (p.Ser283Phe) rs199422128
NM_018136.5(ASPM):c.8508_8509del (p.Lys2837fs) rs199422180
NM_018136.5(ASPM):c.8844del (p.Lys2949fs) rs199422182
NM_018136.5(ASPM):c.9115_9118dup (p.Tyr3040fs) rs199422183
NM_018136.5(ASPM):c.9159del (p.Lys3053fs) rs199422184
NM_018136.5(ASPM):c.9319C>T (p.Arg3107Ter) rs199422187
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg) rs36004306
NM_018136.5(ASPM):c.9492T>G (p.Tyr3164Ter) rs143931757
NM_018136.5(ASPM):c.9507del (p.Ile3170fs) rs199422188
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter) rs199422189
NM_018136.5(ASPM):c.9595A>T (p.Lys3199Ter) rs199422190
NM_018136.5(ASPM):c.9677dup (p.Cys3226fs) rs199422191
NM_018136.5(ASPM):c.9685del (p.Ile3229fs) rs199422192
NM_018136.5(ASPM):c.9686_9690del (p.Ile3229fs) rs199422193
NM_018136.5(ASPM):c.9747_9748del (p.Tyr3250fs) rs199422196
NM_018136.5(ASPM):c.9754del (p.Arg3252fs) rs199422197
NM_018136.5(ASPM):c.9789T>A (p.Tyr3263Ter) rs199422198
NM_018136.5(ASPM):c.9841A>T (p.Arg3281Ter) rs199422199
NM_018136.5(ASPM):c.9984+1G>T rs199422200
NM_018139.3(DNAAF2):c.1199_1214dup (p.Gly406fs) rs397515341
NM_018139.3(DNAAF2):c.23C>A (p.Ser8Ter) rs137853191
NM_018139.3(DNAAF2):c.31del (p.Glu11fs) rs797045146
NM_018206.6(VPS35):c.1796A>G (p.His599Arg) rs1434487321
NM_018206.6(VPS35):c.1819A>G (p.Met607Val) rs1555523076
NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn) rs188286943
NM_018206.6(VPS35):c.2359G>A (p.Glu787Lys) rs777050595
NM_018206.6(VPS35):c.723T>G (p.Ile241Met) rs192783364
NM_018249.6(CDK5RAP2):c.246T>A (p.Tyr82Ter) rs199422126
NM_018249.6(CDK5RAP2):c.2599G>A (p.Gly867Arg) rs10984919
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr) rs3780679
NM_018249.6(CDK5RAP2):c.3989A>T (p.Asn1330Ile) rs7875294
NM_018249.6(CDK5RAP2):c.4005-15A>G rs387906274
NM_018249.6(CDK5RAP2):c.409G>T (p.Ala137Ser) rs41302645
NM_018249.6(CDK5RAP2):c.4547A>G (p.Glu1516Gly) rs3210500
NM_018249.6(CDK5RAP2):c.546T>G (p.Phe182Leu) rs13287599
NM_018249.6(CDK5RAP2):c.547G>C (p.Ala183Pro) rs13287734
NM_018249.6(CDK5RAP2):c.569C>T (p.Ala190Val) rs13287876
NM_018249.6(CDK5RAP2):c.91G>A (p.Asp31Asn) rs58961732
NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter) rs200561967
NM_018418.5(SPATA7):c.1395del (p.Gln465fs) rs386834243
NM_018418.5(SPATA7):c.960dup (p.Pro321fs) rs386834241
NM_018451.5(CENPJ):c.18del (p.Ser7fs) rs199422202
NM_018451.5(CENPJ):c.2678A>C (p.Gln893Pro) rs41306029
NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs) rs199422203
NM_018451.5(CENPJ):c.3704A>T (p.Glu1235Val) rs121434311
NM_018451.5(CENPJ):c.61A>G (p.Met21Val) rs35498994
NM_018648.4(NOP10):c.100C>T (p.Arg34Trp) rs121908092
NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr) rs770740586
NM_018713.3(SLC30A10):c.1046T>C (p.Leu349Pro) rs281860291
NM_018713.3(SLC30A10):c.1235del (p.Gln412fs) rs281860292
NM_018713.3(SLC30A10):c.266T>C (p.Leu89Pro) rs281860284
NM_018713.3(SLC30A10):c.292_402del (p.Val98_Phe134del) rs1553313839
NM_018713.3(SLC30A10):c.314_322del (p.Ala105_Pro107del) rs281860285
NM_018713.3(SLC30A10):c.460C>T (p.Gln154Ter) rs1057519589
NM_018713.3(SLC30A10):c.492del (p.Gly165fs) rs1057519590
NM_018713.3(SLC30A10):c.496_553del (p.Ala166fs) rs1553313783
NM_018713.3(SLC30A10):c.500T>C (p.Phe167Ser) rs281860286
NM_018713.3(SLC30A10):c.507del (p.Pro170fs) rs281860287
NM_018713.3(SLC30A10):c.585del (p.Thr196fs) rs281860288
NM_018713.3(SLC30A10):c.765_767del (p.Val256del) rs281860289
NM_018713.3(SLC30A10):c.922C>T (p.Gln308Ter) rs281860290
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_018965.4(TREM2):c.113A>G (p.Tyr38Cys) rs797044603
NM_018965.4(TREM2):c.40+4_40+6del rs386834142
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_019014.6(POLR1B):c.2046T>A (p.Ser682Arg) rs1684443250
NM_019014.6(POLR1B):c.3007C>A (p.Arg1003Ser) rs1684813071
NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys) rs1684813071
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_019066.5(MAGEL2):c.1996del (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe) rs121918344
NM_020247.5(COQ8A):c.1081-1_1082dup rs1057519344
NM_020247.5(COQ8A):c.1398+2T>C rs606231138
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs) rs387906298
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp) rs752130338
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp) rs119468006
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val) rs119468006
NM_020312.4(COQ9):c.521+1del rs786205897
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro) rs515726135
NM_020365.5(EIF2B3):c.1037T>C (p.Ile346Thr) rs119474039
NM_020366.4(RPGRIP1):c.2480G>T (p.Arg827Leu) rs28937883
NM_020435.3(GJC2):c.-167A>G rs587776888
NM_020435.3(GJC2):c.-170A>G rs587777496
NM_020436.5(SALL4):c.1790A>G (p.Lys597Arg) rs2122962845
NM_020436.5(SALL4):c.2279C>T (p.Thr760Ile) rs755503899
NM_020436.5(SALL4):c.2663A>G (p.His888Arg) rs74315429
NM_020436.5(SALL4):c.2713C>T (p.Arg905Ter) rs74315428
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu) rs188675529
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del) rs797044817
NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs) rs797044823
NM_020533.3(MCOLN1):c.1615del (p.Ala539fs) rs1555742780
NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=) rs751298168
NM_020533.3(MCOLN1):c.236_237ins[NC_012920.1:m.12435_12527] (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer)
NM_020549.5(CHAT):c.914T>C (p.Ile305Thr) rs75466054
NM_020708.5(SLC12A5):c.1127C>T (p.Ser376Leu) rs1568862550
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro) rs863225304
NM_020708.5(SLC12A5):c.1243A>G (p.Met415Val) rs368484023
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) rs863225305
NM_020708.5(SLC12A5):c.2239TCC[1] (p.Ser748del) rs1568866916
NM_020708.5(SLC12A5):c.2570G>T (p.Arg857Leu) rs750336750
NM_020708.5(SLC12A5):c.279+1G>C rs1568858867
NM_020708.5(SLC12A5):c.572C>T (p.Ala191Val) rs1568859798
NM_020708.5(SLC12A5):c.863T>A (p.Leu288His) rs863225306
NM_020708.5(SLC12A5):c.953G>C (p.Trp318Ser) rs1259210706
NM_020708.5(SLC12A5):c.967T>C (p.Ser323Pro) rs1220094830
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly) rs267607174
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile) rs797044544
NM_020919.2(ALS2):c.[1825_1826insCAGTG];[3529G>T]
NM_020919.2(ALS2):c.[3565delG];[3624+5G>C]
NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG rs387906316
NM_020919.4(ALS2):c.1007_1008del (p.Ile336fs) rs386134175
NM_020919.4(ALS2):c.138del (p.Ala47fs) rs386134173
NM_020919.4(ALS2):c.1427_1428del (p.Glu476fs) rs386134176
NM_020919.4(ALS2):c.1619G>A (p.Gly540Glu) rs386134178
NM_020919.4(ALS2):c.1999-2A>T rs386134182
NM_020919.4(ALS2):c.2143C>T (p.Gln715Ter) rs121908139
NM_020919.4(ALS2):c.2537_2538del (p.Asn846fs) rs386134183
NM_020919.4(ALS2):c.2980-2A>G rs386134184
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer) rs386134187
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) rs121908138
NM_020919.4(ALS2):c.4721del (p.Val1574fs) rs386134188
NM_020919.4(ALS2):c.553del (p.Thr185fs) rs386134174
NM_021083.4(XK):c.664C>G (p.Arg222Gly) rs2146834483
NM_021083.4(XK):c.880T>C (p.Cys294Arg) rs28933690
NM_021083.4(XK):c.979G>A (p.Glu327Lys) rs2146834720
NM_021252.5(RAB18):c.274AGA[1] (p.Arg93del) rs587776875
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln) rs387906833
NM_021252.5(RAB18):c.71T>A (p.Leu24Gln) rs387906832
NM_021625.5(TRPV4):c.1024G>T (p.Val342Phe) rs515726152
NM_021625.5(TRPV4):c.1219A>G (p.Lys407Glu) rs515726153
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del) rs515726154
NM_021625.5(TRPV4):c.1566_1568dup (p.Leu523dup) rs515726155
NM_021625.5(TRPV4):c.1625C>A (p.Ser542Tyr) rs387906902
NM_021625.5(TRPV4):c.1772A>G (p.Tyr591Cys) rs515726157
NM_021625.5(TRPV4):c.1774T>C (p.Phe592Leu) rs515726158
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.5(TRPV4):c.1787T>C (p.Leu596Pro) rs515726159
NM_021625.5(TRPV4):c.1798G>T (p.Gly600Trp) rs515726160
NM_021625.5(TRPV4):c.1805A>G (p.Tyr602Cys) rs267607150
NM_021625.5(TRPV4):c.1812C>G (p.Ile604Met) rs515726161
NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln) rs121912632
NM_021625.5(TRPV4):c.1851C>A (p.Phe617Leu) rs515726162
NM_021625.5(TRPV4):c.1853T>C (p.Leu618Pro) rs515726163
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021625.5(TRPV4):c.1875G>A (p.Met625Ile) rs515726164
NM_021625.5(TRPV4):c.2125C>A (p.Leu709Met) rs116571438
NM_021625.5(TRPV4):c.2146G>T (p.Ala716Ser) rs121912635
NM_021625.5(TRPV4):c.2219C>T (p.Thr740Ile) rs387906906
NM_021625.5(TRPV4):c.232G>T (p.Gly78Trp) rs397514474
NM_021625.5(TRPV4):c.2330G>A (p.Cys777Tyr) rs515726165
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys) rs267607149
NM_021625.5(TRPV4):c.2395C>T (p.Pro799Ser) rs267607147
NM_021625.5(TRPV4):c.2396C>G (p.Pro799Arg) rs121912637
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.5(TRPV4):c.2396_2412del (p.Pro799fs) rs515726166
NM_021625.5(TRPV4):c.266C>T (p.Thr89Ile) rs397514473
NM_021625.5(TRPV4):c.547G>A (p.Glu183Lys) rs387906324
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.5(TRPV4):c.590A>G (p.Lys197Arg) rs387906903
NM_021625.5(TRPV4):c.597G>C (p.Leu199Phe) rs515726167
NM_021625.5(TRPV4):c.652G>A (p.Glu218Lys) rs515726168
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.5(TRPV4):c.717G>C (p.Gln239His) rs515726169
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.809G>T (p.Gly270Val) rs387907220
NM_021625.5(TRPV4):c.812G>C (p.Arg271Pro) rs387907219
NM_021625.5(TRPV4):c.819C>G (p.Phe273Leu) rs515726170
NM_021625.5(TRPV4):c.826A>G (p.Lys276Glu) rs387906907
NM_021625.5(TRPV4):c.832G>A (p.Glu278Lys) rs267607148
NM_021625.5(TRPV4):c.883A>G (p.Thr295Ala) rs515726171
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021625.5(TRPV4):c.991A>T (p.Ile331Phe) rs121912636
NM_021625.5(TRPV4):c.992T>C (p.Ile331Thr) rs515726172
NM_021625.5(TRPV4):c.998A>G (p.Asp333Gly) rs121912634
NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val) rs587777671
NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val) rs587777670
NM_021830.5(TWNK):c.1287C>T (p.Ala429=) rs80356541
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) rs764669712
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu) rs80356543
NM_021830.5(TWNK):c.968G>A (p.Arg323Gln)
NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs) rs281865100
NM_022124.6(CDH23):c.193del (p.Leu65fs) rs796051861
NM_022336.4(EDAR):c.803+1G>A rs797044437
NM_023067.3(FOXL2):c.661GCN[15_24] (p.Ala221[(15_24)])
NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe) rs797044527
NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter) rs104893741
NM_023067.4(FOXL2):c.661_702= (p.Ala221_Ala234=)
NM_023067.4(FOXL2):c.804dup (p.Gly269fs) rs797044528
NM_023067.4(FOXL2):c.841_857dup (p.Pro287fs) rs797044529
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) rs672601359
NM_023067.4(FOXL2):c.843_865dup (p.His289fs) rs797044530
NM_023067.4(FOXL2):c.854del (p.Pro285fs) rs797044531
NM_023067.4(FOXL2):c.855_871del (p.Pro287fs) rs797044532
NM_023067.4(FOXL2):c.855_871dup (p.His291fs) rs797044532
NM_023110.3(FGFR1):c.1468G>C (p.Gly490Arg) rs869025670
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1867G>T (p.Asp623Tyr) rs398122946
NM_023110.3(FGFR1):c.1880G>C (p.Arg627Thr) rs869025671
NM_023110.3(FGFR1):c.1884T>G (p.Asn628Lys) rs869025672
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.2174G>A (p.Cys725Tyr) rs398122945
NM_023110.3(FGFR1):c.494T>C (p.Leu165Ser) rs397515481
NM_023110.3(FGFR1):c.572T>C (p.Leu191Ser) rs869025669
NM_024312.4(GNPTAB):c.118-?_203+?dup86
NM_024312.4(GNPTAB):c.1738TATA[3] (p.Ser581Ilefs) rs34924076
NM_024312.4(GNPTAB):c.555_556ins296 (p.?)
NM_024312.4(GNPTAB):c.[2783A>G;2864C>T]]
NM_024312.4(GNPTAB):c.[3388_3389insC;3392C>T]
NM_024312.4(GNPTAB):c.[545T>A;614A>C]
NM_024312.4:c.750+3A>C
NM_024312.5(GNPTAB):c.1001G>T (p.Arg334Leu) rs281864970
NM_024312.5(GNPTAB):c.118-2A>G rs281865023
NM_024312.5(GNPTAB):c.1191_1194dup (p.Ser399fs) rs281864971
NM_024312.5(GNPTAB):c.1206dup (p.Ile403fs) rs281864972
NM_024312.5(GNPTAB):c.1208T>C (p.Ile403Thr) rs281864973
NM_024312.5(GNPTAB):c.121del (p.Val41fs) rs281864948
NM_024312.5(GNPTAB):c.1220A>C (p.Asp407Ala) rs137852895
NM_024312.5(GNPTAB):c.1285-2A>G rs281864974
NM_024312.5(GNPTAB):c.1325G>A (p.Cys442Tyr) rs281864975
NM_024312.5(GNPTAB):c.1331dup (p.Ser445fs) rs281864976
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.5(GNPTAB):c.1381T>G (p.Cys461Gly) rs281864977
NM_024312.5(GNPTAB):c.1385dup (p.Asp462fs) rs281864978
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) rs397507448
NM_024312.5(GNPTAB):c.1519C>T (p.Gln507Ter) rs281864981
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) rs36007394
NM_024312.5(GNPTAB):c.1625_1626insC (p.Glu542fs) rs281865027
NM_024312.5(GNPTAB):c.163dup (p.Ser55fs) rs281864949
NM_024312.5(GNPTAB):c.168T>A (p.Tyr56Ter) rs281864950
NM_024312.5(GNPTAB):c.171del (p.Asp58fs) rs281864951
NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter) rs281864982
NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs) rs281864983
NM_024312.5(GNPTAB):c.1965del (p.Pro655_Ile656insTer) rs281864984
NM_024312.5(GNPTAB):c.1985C>G (p.Ala662Gly) rs142172397
NM_024312.5(GNPTAB):c.1999G>T (p.Glu667Ter) rs281864985
NM_024312.5(GNPTAB):c.1999_2000insT (p.Glu667fs) rs281864986
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.2089dup (p.Leu697fs) rs281864987
NM_024312.5(GNPTAB):c.2188delinsAAA (p.Leu730fs) rs34161232
NM_024312.5(GNPTAB):c.2189del (p.Leu730fs) rs281864988
NM_024312.5(GNPTAB):c.2196G>T (p.Lys732Asn) rs281864989
NM_024312.5(GNPTAB):c.2220_2221dup (p.Met741fs) rs281864990
NM_024312.5(GNPTAB):c.2249dup (p.Asn750fs) rs281864991
NM_024312.5(GNPTAB):c.2275_2276del (p.Thr758_Asn759insTer) rs281864992
NM_024312.5(GNPTAB):c.229GTT[1] (p.Val78del) rs281864952
NM_024312.5(GNPTAB):c.2422del (p.Leu808fs) rs281864993
NM_024312.5(GNPTAB):c.2427del (p.Leu810fs) rs281864994
NM_024312.5(GNPTAB):c.242G>T (p.Trp81Leu) rs281864953
NM_024312.5(GNPTAB):c.2533C>T (p.Gln845Ter) rs281865028
NM_024312.5(GNPTAB):c.2544del (p.Glu849fs) rs281864995
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.2574_2575del (p.Asn859fs) rs281865029
NM_024312.5(GNPTAB):c.2591_2592insG (p.Asn865fs) rs281864997
NM_024312.5(GNPTAB):c.2659dup (p.Ser887fs) rs281865030
NM_024312.5(GNPTAB):c.2664C>G (p.Tyr888Ter) rs281864998
NM_024312.5(GNPTAB):c.2681G>A (p.Trp894Ter) rs137852899
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) rs281864999
NM_024312.5(GNPTAB):c.2693dup (p.Tyr899fs) rs281864999
NM_024312.5(GNPTAB):c.2777A>C (p.Gln926Pro) rs281865002
NM_024312.5(GNPTAB):c.2866C>T (p.His956Tyr) rs281865004
NM_024312.5(GNPTAB):c.2867A>G (p.His956Arg) rs281865005
NM_024312.5(GNPTAB):c.2918dup (p.Pro974_Glu975insTer) rs281865032
NM_024312.5(GNPTAB):c.3002T>C (p.Leu1001Pro) rs281865006
NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly) rs281865007
NM_024312.5(GNPTAB):c.3061C>T (p.Gln1021Ter) rs281865008
NM_024312.5(GNPTAB):c.3145_3146insC (p.Gly1049fs) rs281865033
NM_024312.5(GNPTAB):c.3160C>G (p.Leu1054Val) rs281865010
NM_024312.5(GNPTAB):c.3173C>G (p.Ser1058Ter) rs137852898
NM_024312.5(GNPTAB):c.3231_3234dup (p.Tyr1079fs) rs34256381
NM_024312.5(GNPTAB):c.3232del (p.Tyr1078fs) rs281865011
NM_024312.5(GNPTAB):c.3249+1G>A rs281865012
NM_024312.5(GNPTAB):c.3249+1G>C rs281865012
NM_024312.5(GNPTAB):c.3252del (p.Pro1085fs) rs281865035
NM_024312.5(GNPTAB):c.3310del (p.Ala1104fs) rs281865013
NM_024312.5(GNPTAB):c.3330dup (p.Tyr1111fs) rs281865014
NM_024312.5(GNPTAB):c.3336-1G>C rs397507562
NM_024312.5(GNPTAB):c.3428dup (p.Asn1143fs) rs281865017
NM_024312.5(GNPTAB):c.3434+1G>A rs281865036
NM_024312.5(GNPTAB):c.3435-1G>A rs281865037
NM_024312.5(GNPTAB):c.3443_3446del (p.Val1148fs) rs281865018
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs) rs281864954
NM_024312.5(GNPTAB):c.3458A>G (p.Asn1153Ser) rs281865019
NM_024312.5(GNPTAB):c.3474_3475del (p.His1158fs) rs281865038
NM_024312.5(GNPTAB):c.3487_3490del (p.Gln1162_Thr1163insTer) rs281865020
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3523_3529del (p.Met1175fs) rs281865021
NM_024312.5(GNPTAB):c.3569dup (p.Asn1190fs) rs281865039
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) rs35333334
NM_024312.5(GNPTAB):c.3741_3744del (p.Glu1248fs) rs281865022
NM_024312.5(GNPTAB):c.441del (p.Asn148fs) rs281864955
NM_024312.5(GNPTAB):c.517_518insA (p.Pro173fs) rs281864957
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024312.5(GNPTAB):c.571+3A>C rs281864960
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.625_629del (p.Arg209fs) rs281864961
NM_024312.5(GNPTAB):c.637-1G>A rs281864962
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) rs281864963
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) rs281864964
NM_024312.5(GNPTAB):c.755_759del (p.Leu251_Ser252insTer) rs281864965
NM_024312.5(GNPTAB):c.850del (p.Thr284fs) rs34517004
NM_024312.5(GNPTAB):c.857dup (p.Asn287fs) rs281864966
NM_024312.5(GNPTAB):c.914dup (p.Asp305fs) rs281864967
NM_024312.5(GNPTAB):c.940C>T (p.Gln314Ter) rs281864968
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024339.5(THOC6):c.[298T>A;700G>C824G>A]
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.1418-17C>G rs11583414
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) rs80356649
NM_024529.5(CDC73):c.766_767del (p.Val256fs) rs80356650
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs) rs80338924
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs) rs80338929
NM_024577.4(SH3TC2):c.28del (p.Glu10fs) rs80338918
NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs) rs80338936
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.4(SH3TC2):c.530-2A>G rs80338920
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) rs199422125
NM_024598.4(USB1):c.176_177del (p.Gly59fs) rs759761915
NM_024598.4(USB1):c.179del (p.Pro60fs) rs786205051
NM_024598.4(USB1):c.232C>T (p.Arg78Ter) rs374559185
NM_024598.4(USB1):c.258T>A (p.Tyr86Ter) rs199820065
NM_024598.4(USB1):c.265+2T>G rs1555497680
NM_024598.4(USB1):c.266-1G>A rs1555498092
NM_024598.4(USB1):c.267T>A (p.Tyr89Ter) rs771096742
NM_024598.4(USB1):c.334dup (p.Arg112fs) rs1555498117
NM_024598.4(USB1):c.415C>T (p.Gln139Ter) rs1555498129
NM_024598.4(USB1):c.450-2A>G rs1555498396
NM_024598.4(USB1):c.489_492del (p.Asn163fs) rs777667891
NM_024598.4(USB1):c.499del (p.Thr167fs) rs1555498399
NM_024598.4(USB1):c.502A>G (p.Arg168Gly) rs137853971
NM_024598.4(USB1):c.504-2A>C rs137853970
NM_024598.4(USB1):c.518T>G (p.Leu173Arg) rs1555498563
NM_024598.4(USB1):c.531del (p.His179fs) rs1555498565
NM_024598.4(USB1):c.541C>T (p.Gln181Ter) rs1555498573
NM_024598.4(USB1):c.609+1G>A rs1555498581
NM_024598.4(USB1):c.623A>G (p.His208Arg) rs1249059283
NM_024598.4(USB1):c.683_693+1del rs137853972
NM_024598.4(USB1):c.693+1G>T rs1292827495
NM_024649.5(BBS1):c.-3_37del (p.Met1fs) rs113994178
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024747.6(HPS6):c.1066_1067insG (p.Leu356fs) rs281865111
NM_024757.5(EHMT1):c.1413_1425del (p.Pro473fs) rs137852715
NM_024757.5(EHMT1):c.1533_1536del (p.Asp512fs) rs137852716
NM_024757.5(EHMT1):c.1810C>T (p.Gln604Ter) rs137852717
NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter) rs137852718
NM_024757.5(EHMT1):c.2028dup (p.Pro677fs) rs1554879411
NM_024757.5(EHMT1):c.2193-1G>C rs137852720
NM_024757.5(EHMT1):c.2863_2864del (p.Val955fs) rs137852721
NM_024757.5(EHMT1):c.2868-1G>A rs137852722
NM_024757.5(EHMT1):c.2877_2880del (p.Ser960fs) rs786205129
NM_024757.5(EHMT1):c.3180+1G>T rs137852724
NM_024757.5(EHMT1):c.3181-80_3233del rs1554896943
NM_024757.5(EHMT1):c.3218G>A (p.Cys1073Tyr) rs137852726
NM_024757.5(EHMT1):c.3229C>T (p.Gln1077Ter) rs137852725
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp) rs137852727
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter) rs137852714
NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp) rs398122981
NM_024876.4(COQ8B):c.1199dup (p.His400fs) rs398122982
NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs) rs398122983
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) rs1057519347
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter) rs398122980
NM_024876.4(COQ8B):c.645del (p.Phe215fs) rs764587648
NM_024876.4(COQ8B):c.954_956dup (p.Thr319dup) rs1057519346
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_025114.4(CEP290):c.5707A>T (p.Lys1903Ter) rs878855334
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter) rs387906981
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.277G>A (p.Gly93Ser) rs80356524
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del) rs80356526
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter) rs28937899
NM_025137.3(SPG11):c.3145_3146insCA (p.Asp1049Alafs)
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs) rs312262764
NM_025137.3:c.5898+5493_6509-491del
NM_025137.3:c.5987_5990dupCTCT
NM_025137.3:c.6754+4insTG
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) rs267607084
NM_025137.4(SPG11):c.1203del (p.Asp402fs) rs312262722
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.1282A>T (p.Lys428Ter) rs312262724
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs) rs312262727
NM_025137.4(SPG11):c.1549_1550del (p.Cys518fs) rs312262729
NM_025137.4(SPG11):c.1551_1552del (p.Cys518fs) rs312262730
NM_025137.4(SPG11):c.1668del (p.Phe556fs) rs312262731
NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter) rs312262732
NM_025137.4(SPG11):c.1697_1711delinsTACTCCCA (p.Asp566fs) rs312262733
NM_025137.4(SPG11):c.1735+3_1735+6del rs312262734
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs) rs312262735
NM_025137.4(SPG11):c.1845_1846del (p.Ser616fs) rs312262736
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.2163dup (p.Ile722fs) rs312262738
NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter) rs312262739
NM_025137.4(SPG11):c.2358_2359del (p.Arg788fs) rs312262741
NM_025137.4(SPG11):c.2444+1G>C rs312262743
NM_025137.4(SPG11):c.2444G>T (p.Arg815Met) rs312262742
NM_025137.4(SPG11):c.2472_2473insT (p.Lys825Ter) rs312262744
NM_025137.4(SPG11):c.2608A>G (p.Ile870Val) rs312262745
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter) rs312262709
NM_025137.4(SPG11):c.268G>T (p.Glu90Ter) rs312262710
NM_025137.4(SPG11):c.2697G>A (p.Trp899Ter) rs312262746
NM_025137.4(SPG11):c.2716del (p.Gln906fs) rs312262747
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly) rs312262748
NM_025137.4(SPG11):c.2842dup (p.Val948fs) rs312262750
NM_025137.4(SPG11):c.2849dup (p.Leu950fs) rs1470463921
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.3291+1G>T rs312262753
NM_025137.4(SPG11):c.349G>T (p.Glu117Ter) rs312262711
NM_025137.4(SPG11):c.359del (p.Asn119_Leu120insTer) rs312262712
NM_025137.4(SPG11):c.3602_3603del (p.Tyr1201fs) rs312262754
NM_025137.4(SPG11):c.3719_3720del (p.Ile1240fs) rs312262756
NM_025137.4(SPG11):c.3741dup (p.Pro1248fs) rs312262757
NM_025137.4(SPG11):c.398del (p.Cys133fs) rs312262713
NM_025137.4(SPG11):c.4046T>A (p.Phe1349Tyr) rs312262758
NM_025137.4(SPG11):c.408_428del (p.Glu136_Ile142del) rs312262714
NM_025137.4(SPG11):c.442+1G>C rs312262715
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs) rs587777921
NM_025137.4(SPG11):c.4668T>A (p.Tyr1556Ter) rs312262761
NM_025137.4(SPG11):c.4846C>T (p.Gln1616Ter) rs312262762
NM_025137.4(SPG11):c.5255del (p.Phe1752fs) rs312262763
NM_025137.4(SPG11):c.529_533del (p.Ile177fs) rs312262716
NM_025137.4(SPG11):c.5399_5402delinsTGGAGGAG (p.Gln1800fs) rs312262765
NM_025137.4(SPG11):c.5410_5411del (p.Cys1804fs) rs312262766
NM_025137.4(SPG11):c.5532_5533del (p.Lys1845fs) rs312262768
NM_025137.4(SPG11):c.5703del (p.His1902fs) rs312262769
NM_025137.4(SPG11):c.5769del (p.Ser1923fs) rs312262770
NM_025137.4(SPG11):c.5798del (p.Ala1933fs) rs312262771
NM_025137.4(SPG11):c.5867-3237_6478-451del
NM_025137.4(SPG11):c.5870C>G (p.Ser1957Ter) rs312262772
NM_025137.4(SPG11):c.5970C>G (p.Tyr1990Ter) rs312262773
NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter) rs312262774
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.5992dup (p.Tyr1998fs) rs312262777
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter) rs147713329
NM_025137.4(SPG11):c.6206-1G>C rs312262778
NM_025137.4(SPG11):c.642del (p.Phe214fs) rs312262717
NM_025137.4(SPG11):c.6451del (p.Ala2151fs) rs312262779
NM_025137.4(SPG11):c.6477+4A>G rs312262780
NM_025137.4(SPG11):c.654_655delinsG (p.Ser218fs) rs312262718
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs) rs312262782
NM_025137.4(SPG11):c.6790dup (p.Leu2264fs) rs312262783
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs) rs312262784
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs) rs312262786
NM_025137.4(SPG11):c.7000-3_7000-2insAGG rs312262787
NM_025137.4(SPG11):c.7023C>A (p.Tyr2341Ter) rs80338869
NM_025137.4(SPG11):c.7029dup (p.Val2344fs) rs312262788
NM_025137.4(SPG11):c.7085_7088dup (p.Tyr2363Ter) rs312262789
NM_025137.4(SPG11):c.7101dup (p.Lys2368Ter) rs312262790
NM_025137.4(SPG11):c.7151+4_7151+7del rs312262791
NM_025137.4(SPG11):c.7158_7159insACAA (p.Gln2387fs) rs312262792
NM_025137.4(SPG11):c.869+1G>A rs312262721
NM_025237.3(SOST):c.220+1G>C rs952785856
NM_025237.3(SOST):c.220+3A>T rs2154590472
NM_025237.3(SOST):c.296dup (p.Val100fs) rs1974122996
NM_025237.3(SOST):c.371G>A (p.Trp124Ter) rs2154590429
NM_025237.3(SOST):c.372G>A (p.Trp124Ter) rs104894644
NM_025237.3(SOST):c.376C>T (p.Arg126Ter) rs104894645
NM_025237.3(SOST):c.444_445delinsAA (p.Cys148_Pro149delinsTer) rs2154590427
NM_025237.3(SOST):c.499T>C (p.Cys167Arg) rs2154590425
NM_025237.3(SOST):c.69C>T (p.Gly23=) rs1461545319
NM_025237.3(SOST):c.79C>T (p.Gln27Ter) rs2154590473
NM_025237.3(SOST):c.87dup (p.Lys30fs) rs377648601
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly) rs1565941025
NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys) rs121434497
NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln) rs267607230
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) rs587776600
NM_030777.4(SLC2A10):c.1411+1G>A rs864309479
NM_030777.4(SLC2A10):c.1411+480_1547+299del
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter) rs572620317
NM_030777.4(SLC2A10):c.425G>T (p.Gly142Val) rs864309480
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) rs80358229
NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs) rs864309481
NM_030777.4(SLC2A10):c.756C>A (p.Cys252Ter) rs864309478
NM_030777.4(SLC2A10):c.961del (p.Val321fs) rs587776599
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) rs776679653
NM_030940.4(ISCA1):c.29T>G (p.Val10Gly) rs1587823007
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_031263.4(HNRNPK):c.464T>C (p.Leu155Pro) rs1564063967
NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter) rs1554698681
NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser) rs387907021
NM_031443.4(CCM2):c.30+5_30+6delinsTT rs797044623
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) rs515726204
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr) rs1057519383
NM_032229.3(SLITRK6):c.890C>A (p.Ser297Ter) rs587777070
NM_032383.5(HPS3):c.0_217+692del
NM_032387.5(WNK4):c.1679A>G (p.Glu560Gly) rs193922734
NM_032387.5(WNK4):c.1682C>T (p.Pro561Leu) rs193922735
NM_032387.5(WNK4):c.1684G>A (p.Glu562Lys) rs137853093
NM_032387.5(WNK4):c.1690G>C (p.Asp564His) rs193922736
NM_032387.5(WNK4):c.1691A>C (p.Asp564Ala) rs137853094
NM_032387.5(WNK4):c.1693C>G (p.Gln565Glu) rs137853092
NM_032387.5(WNK4):c.3505A>G (p.Lys1169Glu) rs193922737
NM_032487.4(ACTRT3):c.831_*2687del2976
NM_032520.4(GNPTG):c.611delG rs193302856
NM_032520.5(GNPTG):c.318-1G>C rs193302847
NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter) rs137852884
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_032520.5(GNPTG):c.379_391del (p.Asp127fs) rs193302850
NM_032520.5(GNPTG):c.445del (p.Ala149fs) rs281864956
NM_032520.5(GNPTG):c.523dup (p.Leu175fs) rs193302851
NM_032520.5(GNPTG):c.608_609insC (p.Gln203fs) rs1555451988
NM_032520.5(GNPTG):c.609+28_610-16del rs193302853
NM_032520.5(GNPTG):c.610-1G>T rs193302854
NM_032520.5(GNPTG):c.619_620insT (p.Lys207fs) rs193302857
NM_032520.5(GNPTG):c.639del (p.Phe213fs) rs193302858
NM_032520.5(GNPTG):c.640_667del (p.Glu214fs) rs193302859
NM_032575.3(GLIS2):c.523T>C (p.Cys175Arg) rs587777353
NM_032575.3(GLIS2):c.775+1G>T rs878855335
NM_032581.4(HYCC1):c.158T>C (p.Leu53Pro) rs72549407
NM_032581.4(HYCC1):c.414+1G>T rs72549406
NM_032581.4(HYCC1):c.627-439_831+348del
NM_033028.5(BBS4):c.-17C>A rs56368716
NM_033028.5(BBS4):c.-6G>A rs367543011
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_033028.5(BBS4):c.220+1G>C rs113994190
NM_033028.5(BBS4):c.28dup (p.Thr10fs) rs113994184
NM_033028.5(BBS4):c.406-2A>C rs113994191
NM_033028.5(BBS4):c.77-216del rs113994189
NM_033028.5(BBS4):c.8A>C (p.Glu3Ala) rs113994183
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser) rs104886287
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033409.4(SLC52A3):c.1198-2A>C rs754753126
NM_033409.4(SLC52A3):c.1325_1326del (p.Leu442fs) rs794728004
NM_033409.4(SLC52A3):c.173T>A (p.Val58Asp) rs797045192
NM_033409.4(SLC52A3):c.211G>T (p.Glu71Ter) rs267606683
NM_033409.4(SLC52A3):c.49T>C (p.Trp17Arg) rs797045190
NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC rs3833341
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter) rs778363575
NM_033409.4(SLC52A3):c.659C>A (p.Pro220His) rs797045194
NM_033409.4(SLC52A3):c.670T>C (p.Phe224Leu) rs267606685
NM_033409.4(SLC52A3):c.82C>A (p.Pro28Thr) rs267606688
NM_033409.4(SLC52A3):c.955C>T (p.Pro319Ser) rs797045195
NM_033409.4(SLC52A3):c.986A>G (p.Tyr329Cys) rs2122516296
NM_033409.4(SLC52A3):c.989G>T (p.Gly330Val) rs797045196
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.365T>C (p.Val122Ala) rs79993407
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) rs77371662
NM_033629.6(TREX1):c.393_408dup (p.Glu137fs) rs74876396
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) rs78846775
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) rs78408272
NM_033629.6(TREX1):c.609_662dup (p.Leu204_Ala221dup) rs78379807
NM_033629.6(TREX1):c.625_628dup (p.Trp210fs) rs78948846
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr) rs864309509
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly) rs267607191
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys) rs267607193
NM_052989.3(IFT122):c.955del (p.Glu319fs) rs397515567
NM_053054.4(CATSPER1):c.539dup (p.His182fs) rs193929390
NM_053054.4(CATSPER1):c.944_948dup (p.Asp317fs) rs193929391
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val) rs121908647
NM_054012.4(ASS1):c.421-2A>G rs751930594
NM_054012.4(ASS1):c.794G>A (p.Arg265His) rs398123131
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu) rs1556379508
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_080424.4(SP110):c.319_325dup (p.Ser109fs) rs397515569
NM_080424.4(SP110):c.373del (p.Thr125fs) rs397515570
NM_080424.4(SP110):c.40del (p.Gln14fs) rs397515362
NM_080424.4(SP110):c.642del (p.Ser215fs) rs397515361
NM_080424.4(SP110):c.667+1dup rs397515571
NM_080424.4(SP110):c.78_79delinsAT (p.Ile27Leu) rs397515572
NM_080669.6(SLC46A1):c.1274C>G (p.Pro425Arg) rs80338774
NM_080669.6(SLC46A1):c.194del (p.Gly65fs) rs80338769
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser) rs80338770
NM_080669.6(SLC46A1):c.439G>C (p.Gly147Arg) rs80338771
NM_080860.4(RSPH1):c.407_410del (p.Lys136fs) rs587777059
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg) rs398124303
NM_130837.3(OPA1):c.1230+1G>T rs80356528
NM_130837.3(OPA1):c.1232_1233dup (p.Ala412fs) rs863225275
NM_130837.3(OPA1):c.1367G>A (p.Gly456Asp) rs863225276
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg) rs863225277
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2991del (p.Arg998fs) rs80356531
NM_130837.3(OPA1):c.893T>A (p.Leu298Ter) rs863225274
NM_138387.4(G6PC3):c.935dup (p.Asn313fs) rs797044567
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_138638.5(CFL2):c.103G>A (p.Ala35Thr) rs80358250
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln) rs113994136
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del) rs113994138
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) rs113994139
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter) rs398124538
NM_145045.5(ODAD3):c.1256C>A (p.Ser419Ter) rs587777780
NM_145045.5(ODAD3):c.925G>T (p.Glu309Ter) rs587777779
NM_145064.3(STAC3):c.432+4A>T rs751033943
NM_145064.3(STAC3):c.763_766del (p.Leu255fs) rs773050511
NM_145064.3(STAC3):c.997-1G>T rs779483367
NM_145239.3(PRRT2):c.510dup (p.Leu171fs) rs397515576
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) rs76335820
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg) rs121908116
NM_145861.4(EDARADD):c.402_407del (p.Thr135_Val136del) rs397515575
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys) rs74315309
NM_152263.4(TPM3):c.11C>T (p.Ala4Val) rs199474711
NM_152263.4(TPM3):c.26T>G (p.Met9Arg) rs80358247
NM_152263.4(TPM3):c.272G>C (p.Arg91Pro) rs199474713
NM_152263.4(TPM3):c.298C>A (p.Leu100Met) rs121964853
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.505A>G (p.Lys169Glu) rs199474715
NM_152263.4(TPM3):c.721G>A (p.Glu241Lys) rs199474717
NM_152263.4(TPM3):c.733A>G (p.Arg245Gly) rs199474718
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) rs80358248
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp) rs1555863693
NM_152296.5(ATP1A3):c.1073G>T (p.Gly358Val) rs1555863693
NM_152296.5(ATP1A3):c.1088T>A (p.Ile363Asn) rs2145972483
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2267G>T (p.Arg756Leu) rs606231435
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp) rs606231442
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2851G>A (p.Glu951Lys) rs2145942372
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met) rs1555865401
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys) rs80356533
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser) rs869320661
NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys) rs1372286994
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) rs370717845
NM_152419.3(HGSNAT):c.784G>A (p.Gly262Arg) rs1803654249
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln) rs878855336
NM_152703.5(SAMD9L):c.2672T>C (p.Ile891Thr) rs1554341277
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys) rs1554341158
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser) rs878855337
NM_152722.5(HEPACAM):c.265G>A (p.Gly89Ser) rs387907053
NM_152722.5(HEPACAM):c.274C>T (p.Arg92Trp) rs387907055
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln) rs387907050
NM_152722.5(HEPACAM):c.292C>T (p.Arg98Cys) rs387907052
NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His) rs281865564
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del) rs119456959
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9] rs55983148
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr) rs267607547
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) rs61046466
NM_170707.4(LMNA):c.1700_1968+1del rs1553266460
NM_170707.4(LMNA):c.1771T>A (p.Cys591Ser) rs797044486
NM_170707.4(LMNA):c.1821G>A (p.Val607=) rs59886214
NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser) rs61064130
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.1868C>G (p.Thr623Ser) rs59267781
NM_170707.4(LMNA):c.1968+1G>A rs113436208
NM_170707.4(LMNA):c.1968+1G>C rs113436208
NM_170707.4(LMNA):c.1968+2T>A rs113860699
NM_170707.4(LMNA):c.1968+2T>C rs113860699
NM_170707.4(LMNA):c.1968+5G>A rs797044488
NM_170707.4(LMNA):c.1968+5G>C rs797044488
NM_170707.4(LMNA):c.1968G>A (p.Gln656=) rs797044487
NM_170707.4(LMNA):c.433G>A (p.Glu145Lys) rs60310264
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) rs28933091
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) rs61195471
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro) rs61295588
NM_170707.4(LMNA):c.664C>T (p.His222Tyr) rs28928901
NM_170707.4(LMNA):c.667G>A (p.Glu223Lys) rs797044485
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.960del (p.Arg321fs) rs56771886
NM_170784.3(MKKS):c.431_441del (p.Phe144fs) rs113994195
NM_170784.3(MKKS):c.873_876dup (p.Cys293fs) rs113994196
NM_172107.2(KCNQ2):c.(?_-177)_690+?del
NM_172107.2(KCNQ2):c.1119-?_*382del
NM_172107.2(KCNQ2):c.1248-?_(*455_?)del
NM_172107.2(KCNQ2):c.1764-?_(*455_?)del
NM_172107.2(KCNQ2):c.297-?_1247+?del
NM_172107.2(KCNQ2):c.388-682_1118+?del
NM_172107.2(KCNQ2):c.388-?_1301+?del
NM_172107.2:c.(1228_1230)del12
NM_172107.2:c.1-?c.993+?del
NM_172107.4(KCNQ2):c.1010C>G (p.Ala337Gly) rs796052643
NM_172107.4(KCNQ2):c.1016T>G (p.Leu339Arg) rs118192217
NM_172107.4(KCNQ2):c.1024-2A>G rs1057516104
NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg) rs1057516105
NM_172107.4(KCNQ2):c.1051C>G (p.Leu351Val) rs1057516106
NM_172107.4(KCNQ2):c.1051C>T (p.Leu351Phe) rs1057516106
NM_172107.4(KCNQ2):c.1053C>T (p.Leu351=) rs1030017847
NM_172107.4(KCNQ2):c.1054T>C (p.Ser352Pro) rs1057516108
NM_172107.4(KCNQ2):c.1057C>G (p.Arg353Gly) rs118192218
NM_172107.4(KCNQ2):c.1058G>A (p.Arg353His) rs796052645
NM_172107.4(KCNQ2):c.1066C>G (p.Leu356Val) rs1057516109
NM_172107.4(KCNQ2):c.1073C>T (p.Ser358Phe) rs1057516110
NM_172107.4(KCNQ2):c.1076C>A (p.Thr359Lys) rs118192219
NM_172107.4(KCNQ2):c.1085A>G (p.Tyr362Cys) rs1057516111
NM_172107.4(KCNQ2):c.1118+1G>A rs397507449
NM_172107.4(KCNQ2):c.1118+3A>G rs1057516112
NM_172107.4(KCNQ2):c.1126del (p.Thr376fs) rs1057516113
NM_172107.4(KCNQ2):c.1148+2T>G rs118192221
NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs) rs118192222
NM_172107.4(KCNQ2):c.1195_1196del (p.Lys398_Ser399insTer) rs1057516114
NM_172107.4(KCNQ2):c.1217+2T>G rs118192223
NM_172107.4(KCNQ2):c.1228CCG[1] (p.Pro411del) rs1060499544
NM_172107.4(KCNQ2):c.1247+1G>A rs1057516115
NM_172107.4(KCNQ2):c.1288C>T (p.Pro430Ser) rs118192224
NM_172107.4(KCNQ2):c.1302-1G>C rs118192225
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.1418_1419del (p.Leu473fs) rs1057516117
NM_172107.4(KCNQ2):c.1501G>C (p.Ala501Pro) rs1057516118
NM_172107.4(KCNQ2):c.1525+1G>A rs118192228
NM_172107.4(KCNQ2):c.1569_1581del (p.Cys523fs) rs1555854036
NM_172107.4(KCNQ2):c.1609A>T (p.Lys537Ter) rs1555853983
NM_172107.4(KCNQ2):c.1621A>G (p.Arg541Gly) rs1555853971
NM_172107.4(KCNQ2):c.1631+1G>A rs1057516121
NM_172107.4(KCNQ2):c.1632-1G>T rs118192233
NM_172107.4(KCNQ2):c.1636A>G (p.Met546Val) rs397515420
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.4(KCNQ2):c.1655A>C (p.Lys552Thr) rs1555853613
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln) rs118192234
NM_172107.4(KCNQ2):c.1658G>T (p.Arg553Leu) rs118192234
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn) rs267607198
NM_172107.4(KCNQ2):c.1666A>G (p.Lys556Glu) rs1555853593
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1680_1684dup (p.Tyr562fs) rs118192231
NM_172107.4(KCNQ2):c.1682C>T (p.Pro561Leu) rs796052652
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.1689C>G (p.Asp563Glu) rs35450031
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val) rs1057516123
NM_172107.4(KCNQ2):c.1734G>C (p.Met578Ile) rs796052655
NM_172107.4(KCNQ2):c.1734_1735delinsAA (p.Met578_Leu579delinsIleMet) rs796052665
NM_172107.4(KCNQ2):c.1741C>G (p.Arg581Gly) rs118192236
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.4(KCNQ2):c.1764-2A>G rs118192238
NM_172107.4(KCNQ2):c.1764-6C>A rs118192239
NM_172107.4(KCNQ2):c.1764A>T (p.Arg588Ser) rs118192237
NM_172107.4(KCNQ2):c.1776C>G (p.Ile592Met) rs201868078
NM_172107.4(KCNQ2):c.1783C>T (p.Arg595Trp) rs1555851550
NM_172107.4(KCNQ2):c.1856_1886del (p.Met619fs) rs1555851445
NM_172107.4(KCNQ2):c.1910T>G (p.Leu637Arg) rs118192240
NM_172107.4(KCNQ2):c.1930del (p.Tyr644fs) rs118192241
NM_172107.4(KCNQ2):c.1956del (p.Thr653fs) rs118192242
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.4(KCNQ2):c.2015del (p.Ser672fs) rs118192243
NM_172107.4(KCNQ2):c.204dup (p.Lys69fs) rs118192188
NM_172107.4(KCNQ2):c.2127del (p.Val710fs) rs118192244
NM_172107.4(KCNQ2):c.2318dup (p.Cys774fs) rs1555850512
NM_172107.4(KCNQ2):c.232del (p.Gln78fs) rs118192189
NM_172107.4(KCNQ2):c.2597del (p.Gly866fs) rs118192245
NM_172107.4(KCNQ2):c.2599_2603dup (p.Arg871fs) rs1555850151
NM_172107.4(KCNQ2):c.2605_2609dup (p.Arg871fs) rs118192246
NM_172107.4(KCNQ2):c.296+1G>A rs118192190
NM_172107.4(KCNQ2):c.297-2A>G rs796052615
NM_172107.4(KCNQ2):c.2T>C (p.Met1Thr) rs118192186
NM_172107.4(KCNQ2):c.314_316del (p.Ser105del) rs118192191
NM_172107.4(KCNQ2):c.333_334del (p.Ser113fs) rs796052663
NM_172107.4(KCNQ2):c.340A>G (p.Thr114Ala) rs1057516076
NM_172107.4(KCNQ2):c.341C>T (p.Thr114Ile) rs1057516077
NM_172107.4(KCNQ2):c.346_348del (p.Lys116del) rs118192192
NM_172107.4(KCNQ2):c.356A>G (p.Glu119Gly) rs118192193
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.387+1G>T rs118192195
NM_172107.4(KCNQ2):c.388-1_389del rs118192196
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.460T>G (p.Tyr154Asp) rs1057516078
NM_172107.4(KCNQ2):c.471G>A (p.Trp157Ter) rs1057516079
NM_172107.4(KCNQ2):c.475G>A (p.Gly159Arg) rs1057516080
NM_172107.4(KCNQ2):c.476G>A (p.Gly159Glu) rs1057516081
NM_172107.4(KCNQ2):c.523G>C (p.Val175Leu) rs1057516082
NM_172107.4(KCNQ2):c.566G>T (p.Gly189Val) rs1057516083
NM_172107.4(KCNQ2):c.583T>C (p.Ser195Pro) rs796052620
NM_172107.4(KCNQ2):c.584_593delinsA (p.Ser195_Arg198delinsTer) rs118192197
NM_172107.4(KCNQ2):c.585dup (p.Ala196fs) rs118192198
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val) rs118192199
NM_172107.4(KCNQ2):c.592_594delinsA (p.Arg198fs) rs1057516084
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.4(KCNQ2):c.608T>C (p.Leu203Pro) rs1057516086
NM_172107.4(KCNQ2):c.613A>G (p.Ile205Val) rs1057516087
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln) rs118192200
NM_172107.4(KCNQ2):c.622A>G (p.Met208Val) rs118192201
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys) rs796052626
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.635A>G (p.Asp212Gly) rs118192202
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.643G>A (p.Gly215Arg) rs1057516088
NM_172107.4(KCNQ2):c.649A>G (p.Thr217Ala) rs1057516089
NM_172107.4(KCNQ2):c.650C>A (p.Thr217Asn) rs1057516090
NM_172107.4(KCNQ2):c.65_68del (p.Val22fs) rs118192187
NM_172107.4(KCNQ2):c.684C>A (p.His228Gln) rs118192204
NM_172107.4(KCNQ2):c.700A>C (p.Thr234Pro) rs1057516091
NM_172107.4(KCNQ2):c.715G>C (p.Gly239Arg) rs1057516092
NM_172107.4(KCNQ2):c.727C>T (p.Leu243Phe) rs118192205
NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp) rs74315392
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly) rs118192206
NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr) rs1057516093
NM_172107.4(KCNQ2):c.773A>G (p.Asn258Ser) rs118192207
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.4(KCNQ2):c.793G>C (p.Ala265Pro) rs794727740
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe) rs1057516094
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter) rs118192208
NM_172107.4(KCNQ2):c.812G>T (p.Gly271Val) rs118192209
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.827C>T (p.Thr276Ile) rs1057516095
NM_172107.4(KCNQ2):c.835G>T (p.Gly279Cys) rs1057516096
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.841G>T (p.Gly281Trp) rs794727813
NM_172107.4(KCNQ2):c.847_848insGT (p.Lys283fs) rs118192210
NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys) rs28939683
NM_172107.4(KCNQ2):c.854C>A (p.Pro285His) rs1057516097
NM_172107.4(KCNQ2):c.860C>A (p.Thr287Asn) rs727503973
NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser) rs1057516098
NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp) rs397514582
NM_172107.4(KCNQ2):c.881C>G (p.Ala294Gly) rs118192211
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.886A>C (p.Thr296Pro) rs756921902
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_172107.4(KCNQ2):c.911T>C (p.Phe304Ser) rs1057516100
NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu) rs775918190
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val)
NM_172107.4(KCNQ2):c.928-1G>C rs1057516102
NM_172107.4(KCNQ2):c.939dup (p.Ser314fs) rs118192213
NM_172107.4(KCNQ2):c.943G>C (p.Gly315Arg) rs864321709
NM_172107.4(KCNQ2):c.967C>T (p.Gln323Ter) rs118192214
NM_172107.4(KCNQ2):c.973A>C (p.Arg325=) rs1057516103
NM_172107.4(KCNQ2):c.973A>G (p.Arg325Gly) rs1057516103
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp) rs118192215
NM_172107.4(KCNQ2):c.998G>A (p.Arg333Gln) rs118192216
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter) rs864309725
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter) rs864309727
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter) rs754545360
NM_172250.3(MMAA):c.503del (p.Thr168fs) rs864309728
NM_172250.3(MMAA):c.562G>C (p.Gly188Arg) rs864309729
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter) rs140356252
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu) rs864309730
NM_173477.5(USH1G):c.394dup (p.Val132fs) rs587776546
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) rs397515345
NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs) rs80356539
NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs) rs318240735
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs) rs80356538
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg) rs28942111
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_174936.4(PCSK9):c.646T>C (p.Phe216Leu) rs28942112
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter) rs1131692047
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048
NM_177400.3(NKX6-2):c.565G>T (p.Glu189Ter) rs776560015
NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter) rs1565019976
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln) rs1008088032
NM_177400.3(NKX6-2):c.606delinsTA (p.Lys202fs) rs1565019932
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter) rs1565019928
NM_177924.5(ASAH1):c.125+211_383-1330del
NM_177924.5(ASAH1):c.703G>C (p.Gly235Arg) rs1554808625
NM_177924.5(ASAH1):c.917+4A>G rs397509415
NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys) rs398122369
NM_178452.6(DNAAF1):c.124+1536_353-2102del
NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs) rs397515339
NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg) rs267607227
NM_181426.2(CCDC39):c.1072del (p.Thr358fs) rs587778822
NM_181426.2(CCDC39):c.2190del (p.Glu731fs) rs587778820
NM_181426.2(CCDC39):c.2357_2359delinsT (p.Ser786fs) rs587778821
NM_181523.3(PIK3R1):c.1465G>A (p.Glu489Lys) rs397514047
NM_181523.3(PIK3R1):c.1612ATT[1] (p.Ile539del) rs397514046
NM_181523.3(PIK3R1):c.1892G>A (p.Arg631Gln) rs515726149
NM_181523.3(PIK3R1):c.1906_1907del (p.Asn636fs) rs515726150
NM_181523.3(PIK3R1):c.1943dup (p.Arg649fs) rs398122384
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.1971T>G (p.Tyr657Ter) rs515726151
NM_181714.4(LCA5):c.0_-298+211del
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.3(PRX):c.2098del (p.Ala700fs) rs281865062
NM_181882.3(PRX):c.247del (p.Leu83fs) rs281865061
NM_182476.3(COQ6):c.1058C>A (p.Ala353Asp) rs397514479
NM_182476.3(COQ6):c.1341G>A (p.Trp447Ter) rs1057519351
NM_182476.3(COQ6):c.1383del (p.Ile462fs) rs1057519352
NM_182476.3(COQ6):c.484C>T (p.Arg162Ter) rs189840848
NM_182476.3(COQ6):c.763G>A (p.Gly255Arg) rs1057519350
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg) rs1057517363
NM_182760.4(SUMF1):c.788G>T (p.Gly263Val) rs387906976
NM_182978.4(GNAL):c.964C>T (p.Arg322Ter) rs1252185897
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln) rs864309515
NM_183357.3(ADCY5):c.2088+1G>A rs797045002
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr) rs796065306
NM_183357.3(ADCY5):c.3086T>A (p.Met1029Lys) rs864309484
NM_194248.1:c.1912-2C>T
NM_194248.1:c.2295_2297delG
NM_194248.1:c.3704-3720delACCGCTCGGCCCCCAG
NM_194248.1:c.5860_5862delATC
NM_194248.1:c.766-2T>A
NM_194248.3(OTOF):c.1103_1104delinsC (p.Gly368fs) rs397515579
NM_194248.3(OTOF):c.1180dup (p.Glu394fs) rs397515580
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln) rs80356585
NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs) rs1443739332
NM_194248.3(OTOF):c.1601del (p.Pro534fs) rs397515583
NM_194248.3(OTOF):c.1607G>A (p.Trp536Ter) rs397515584
NM_194248.3(OTOF):c.1609del (p.Trp536_Val537insTer) rs397515585
NM_194248.3(OTOF):c.1651del (p.Glu551fs) rs80356587
NM_194248.3(OTOF):c.1718T>G (p.Leu573Arg) rs397515586
NM_194248.3(OTOF):c.1740del (p.Ser581fs) rs397515587
NM_194248.3(OTOF):c.1780G>A (p.Glu594Lys) rs397515588
NM_194248.3(OTOF):c.1841G>A (p.Gly614Glu) rs397515589
NM_194248.3(OTOF):c.1886dup (p.Pro630fs) rs80356588
NM_194248.3(OTOF):c.1966del (p.Arg656fs) rs397515590
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2214+1G>T rs80356589
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.3(OTOF):c.2316C>A (p.Cys772Ter) rs397515592
NM_194248.3(OTOF):c.2348del (p.Gly783fs) rs80356591
NM_194248.3(OTOF):c.2580C>G (p.Val860=) rs2272069
NM_194248.3(OTOF):c.2649C>A (p.Cys883Ter) rs397515593
NM_194248.3(OTOF):c.2684_2685del (p.Gly895fs) rs397515594
NM_194248.3(OTOF):c.2732_2735dup (p.Tyr913fs) rs397515595
NM_194248.3(OTOF):c.2891C>A (p.Ala964Glu) rs201329629
NM_194248.3(OTOF):c.2905_2923delinsCTCCGAGCGCA (p.Ala969fs) rs397515596
NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs) rs397515597
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro) rs80356596
NM_194248.3(OTOF):c.3239G>C (p.Arg1080Pro) rs397515598
NM_194248.3(OTOF):c.3269C>A (p.Ala1090Glu) rs370609551
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro) rs397515599
NM_194248.3(OTOF):c.3571-2A>C rs80356597
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter) rs80356598
NM_194248.3(OTOF):c.4351G>T (p.Gly1451Ter) rs397515602
NM_194248.3(OTOF):c.4467dup (p.Ile1490fs) rs797044816
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter) rs80356600
NM_194248.3(OTOF):c.4500+2T>G rs80356599
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter) rs143939430
NM_194248.3(OTOF):c.4873G>A (p.Val1625Met) rs80356579
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.3(OTOF):c.4960+1G>C rs80356602
NM_194248.3(OTOF):c.5011dup (p.Trp1671fs) rs397515604
NM_194248.3(OTOF):c.5384T>G (p.Phe1795Cys) rs397515606
NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del) rs397515607
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala) rs28937591
NM_194248.3(OTOF):c.5663G>A (p.Gly1888Asp) rs80356583
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) rs397515609
NM_194248.3(OTOF):c.5960C>G (p.Pro1987Arg) rs80356606
NM_194248.3(OTOF):c.709C>T (p.Arg237Ter) rs397515610
NM_194248.3(OTOF):c.765G>C (p.Gln255His) rs397515611
NM_194248.3(OTOF):c.766-2A>G rs80356584
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_194279.4(ISCA2):c.297del (p.Phe99fs) rs778755775
NM_194279.4(ISCA2):c.334A>G (p.Ser112Gly) rs767352340
NM_194318.4(B3GLCT):c.1098T>A (p.Tyr366Ter) rs80338852
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter) rs267607203
NM_194454.3(KRIT1):c.987C>A (p.Cys329Ter) rs267607204
NM_198129.4(LAMA3):c.6943A>T (p.Arg2315Ter) rs80356679
NM_198253.3(TERT):c.*6_*182del rs199422308
NM_198253.3(TERT):c.112del (p.Leu38fs) rs199422290
NM_198253.3(TERT):c.1378_1380del (p.Gln460del) rs199422292
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) rs199422293
NM_198253.3(TERT):c.164T>A (p.Leu55Gln) rs387907247
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.3(TERT):c.2029G>T (p.Gly677Cys) rs199422296
NM_198253.3(TERT):c.2045G>A (p.Gly682Asp) rs199422295
NM_198253.3(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.3(TERT):c.2162C>G (p.Pro721Arg) rs199422299
NM_198253.3(TERT):c.219+1G>A rs199422309
NM_198253.3(TERT):c.2240del (p.Val747fs) rs199422300
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.3(TERT):c.2537A>G (p.Tyr846Cys) rs199422302
NM_198253.3(TERT):c.2583-2A>C rs111576740
NM_198253.3(TERT):c.2628C>G (p.His876Gln) rs199422303
NM_198253.3(TERT):c.2706G>C (p.Lys902Asn) rs121918665
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.3(TERT):c.3043T>C (p.Cys1015Arg) rs199422307
NM_198253.3(TERT):c.430G>A (p.Val144Met) rs199422291
NM_198253.3(TERT):c.97C>T (p.Pro33Ser) rs199422289
NM_198576.4(AGRN):c.1057C>T (p.Gln353Ter) rs587777299
NM_198576.4(AGRN):c.1362dup (p.Ser455fs) rs879253788
NM_198576.4(AGRN):c.226G>A (p.Gly76Ser) rs756623659
NM_198576.4(AGRN):c.314A>T (p.Asn105Ile) rs879253787
NM_198576.4(AGRN):c.5125G>C (p.Gly1709Arg) rs199476396
NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe) rs587777298
NM_198578.4(LRRK2):c.1088A>G (p.Asn363Ser) rs72546336
NM_198578.4(LRRK2):c.1288G>A (p.Val430Ile) rs878853305
NM_198578.4(LRRK2):c.1674= (p.Gly558=) rs77424631
NM_198578.4(LRRK2):c.2134A>G (p.Met712Val) rs199566791
NM_198578.4(LRRK2):c.2147C>T (p.Ala716Val) rs281865043
NM_198578.4(LRRK2):c.2428A>G (p.Ile810Val) rs72546337
NM_198578.4(LRRK2):c.2789A>G (p.Gln930Arg) rs281865045
NM_198578.4(LRRK2):c.28G>A (p.Glu10Lys) rs281865040
NM_198578.4(LRRK2):c.2918G>A (p.Ser973Asn) rs75148313
NM_198578.4(LRRK2):c.3187C>T (p.Leu1063Phe) rs878853306
NM_198578.4(LRRK2):c.3364A>G (p.Ile1122Val) rs34805604
NM_198578.4(LRRK2):c.3494T>C (p.Leu1165Pro) rs281865046
NM_198578.4(LRRK2):c.3647A>G (p.His1216Arg) rs72546324
NM_198578.4(LRRK2):c.3683G>T (p.Ser1228Ile) rs60185966
NM_198578.4(LRRK2):c.4125C>A (p.Asp1375Glu) rs28365226
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His) rs7133914
NM_198578.4(LRRK2):c.4258G>A (p.Asp1420Asn) rs113589830
NM_198578.4(LRRK2):c.4309A>C (p.Asn1437His) rs74163686
NM_198578.4(LRRK2):c.4314A>G (p.Ile1438Met) rs878853307
NM_198578.4(LRRK2):c.4321C>G (p.Arg1441Gly) rs33939927
NM_198578.4(LRRK2):c.4324G>C (p.Ala1442Pro) rs281865048
NM_198578.4(LRRK2):c.4358A>G (p.His1453Arg) rs878853308
NM_198578.4(LRRK2):c.4364_4365del (p.Asp1455fs) rs281865049
NM_198578.4(LRRK2):c.4402A>G (p.Lys1468Glu) rs281865050
NM_198578.4(LRRK2):c.4441G>A (p.Ala1481Thr) rs878853309
NM_198578.4(LRRK2):c.4666C>A (p.Leu1556Ile) rs17491187
NM_198578.4(LRRK2):c.4793T>A (p.Val1598Glu) rs721710
NM_198578.4(LRRK2):c.4838T>C (p.Val1613Ala) rs281865051
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_198578.4(LRRK2):c.5096A>G (p.Tyr1699Cys) rs35801418
NM_198578.4(LRRK2):c.5173C>T (p.Arg1725Ter) rs11564176
NM_198578.4(LRRK2):c.5183G>T (p.Arg1728Leu) rs145364431
NM_198578.4(LRRK2):c.5273A>C (p.His1758Pro) rs878853310
NM_198578.4(LRRK2):c.5385G>T (p.Leu1795Phe) rs111910483
NM_198578.4(LRRK2):c.5605A>G (p.Met1869Val) rs281865052
NM_198578.4(LRRK2):c.5610G>T (p.Leu1870Phe) rs281865053
NM_198578.4(LRRK2):c.5620G>T (p.Glu1874Ter) rs281865054
NM_198578.4(LRRK2):c.6016T>C (p.Tyr2006His) rs281865055
NM_198578.4(LRRK2):c.6059T>C (p.Ile2020Thr) rs35870237
NM_198578.4(LRRK2):c.6187_6191del (p.Leu2062_Leu2063insTer) rs111739194
NM_198578.4(LRRK2):c.6356C>T (p.Pro2119Leu) rs12423862
NM_198578.4(LRRK2):c.6415T>A (p.Cys2139Ser) rs112048985
NM_198578.4(LRRK2):c.6523G>C (p.Asp2175His) rs72547981
NM_198578.4(LRRK2):c.6782A>T (p.Asn2261Ile) rs12581902
NM_198578.4(LRRK2):c.7006A>G (p.Ile2336Val) rs878853311
NM_198578.4(LRRK2):c.7183G>A (p.Glu2395Lys) rs78964014
NM_198578.4(LRRK2):c.7267A>T (p.Thr2423Ser) rs1060499538
NM_198578.4(LRRK2):c.7468del (p.Gln2490fs) rs281865058
NM_198578.4(LRRK2):c.894T>C (p.Ala298=) rs57355477
NM_198578.4(LRRK2):c.936G>T (p.Ala312=) rs41286466
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
NM_198947.4(FAM111B):c.1247T>C (p.Phe416Ser) rs2135404867
NM_198947.4(FAM111B):c.1262_1264del (p.Lys421del) rs886039851
NM_198947.4(FAM111B):c.1289A>C (p.Gln430Pro) rs551644836
NM_198947.4(FAM111B):c.1861T>G (p.Tyr621Asp) rs587777236
NM_198947.4(FAM111B):c.1874C>A (p.Thr625Asn) rs886039852
NM_198947.4(FAM111B):c.1879A>G (p.Arg627Gly) rs587777237
NM_198947.4(FAM111B):c.1881A>T (p.Arg627Ser) rs2135405562
NM_198947.4(FAM111B):c.1883G>A (p.Ser628Asn) rs587777238
NM_198947.4(FAM111B):c.1884T>A (p.Ser628Arg) rs2135405570
NM_199242.3(UNC13D):c.118-307G>A rs1019391145
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu) rs121917812
NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp) rs201320592
NM_203290.4(POLR1C):c.436T>C (p.Cys146Arg) rs796052125
NM_203290.4(POLR1C):c.461_462del (p.Lys154fs) rs770857344
NM_203290.4(POLR1C):c.77C>T (p.Thr26Ile) rs796052126
NM_203290.4(POLR1C):c.880AAG[1] (p.Lys295del) rs875989826
NM_203290.4(POLR1C):c.95A>T (p.Asn32Ile) rs796052124
NM_203290.4(POLR1C):c.970G>A (p.Glu324Lys) rs1582184344
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_207346.3(TSEN54):c.1027C>T (p.Gln343Ter) rs113994154
NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter) rs113994153
NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter) rs199476198
NM_207352.4(CYP4V2):c.1021T>C (p.Ser341Pro) rs199476199
NM_207352.4(CYP4V2):c.1157A>C (p.Lys386Thr) rs199476200
NM_207352.4(CYP4V2):c.1169G>A (p.Arg390His) rs199476201
NM_207352.4(CYP4V2):c.1226-6_1235del rs199476184
NM_207352.4(CYP4V2):c.1445C>A (p.Ser482Ter) rs146494374
NM_207352.4(CYP4V2):c.1526C>T (p.Pro509Leu) rs199476205
NM_207352.4(CYP4V2):c.181G>A (p.Gly61Ser) rs119103285
NM_207352.4(CYP4V2):c.327+1G>A rs199476182
NM_207352.4(CYP4V2):c.335T>G (p.Leu112Ter) rs199476188
NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp) rs199476190
NM_207352.4(CYP4V2):c.655T>C (p.Tyr219His) rs199476191
NM_207352.4(CYP4V2):c.759dup (p.His254fs) rs199476192
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
NM_207352.4(CYP4V2):c.958C>T (p.Arg320Ter) rs199476194
NM_207352.4(CYP4V2):c.971A>T (p.Asp324Val) rs199476195
NM_212472.2(PRKAR1A):c.178_348del (p.Glu60_Lys116del)
NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del) rs1553636502
NM_212482.4(FN1):c.260G>T (p.Cys87Phe) rs1553669703
NM_212482.4(FN1):c.718T>G (p.Tyr240Asp) rs1553659131
NM_213599.3(ANO5):c.1066T>C (p.Cys356Arg) rs119103234
NM_213599.3(ANO5):c.1066T>G (p.Cys356Gly) rs119103234
NM_213599.3(ANO5):c.2311_2312del (p.Gln771fs) rs137854528
NM_213655.4(WNK1):c.759+12272_760-5774del
NM_213655.5(WNK1):c.2952del (p.Glu984fs) rs137852734
NM_213655.5(WNK1):c.3276dup (p.Ser1093fs) rs137852735
NM_213655.5(WNK1):c.3492dup (p.Asp1165Ter) rs1951913764
NM_213720.2(CHCHD10):c.[43C>A ;172G>C]
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu) rs587777574
NM_213720.3(CHCHD10):c.197G>T (p.Gly66Val) rs730880031
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) rs730880030
NP_000251.3(MYO7A):p.Tyr1302fsTer97
NP_000521.1(MPZ):p.Asn116Ser
NP_000531.2:p.4894Q
NP_000531.2:p.F4860del
NP_000531.2:p.F4906del
NP_000531.2:p.G4893R
NP_000531.2:p.L4647del
NP_002046.1(GFAP):p.Glu373Asp
NP_002046.1(GFAP):p.Met415Ile
NP_002046.1:p.Phe261_Thr302del
NP_002760.1(PRSS1):p.Cys139Ser
NP_005700.2(USH1C):p.Arg357Trp
NP_055006.1(SCN8A):p.Pro1428_Lys1473del
NP_055400.1(SLC40A1):p.Gln248His
NR_001566.1(TERC):n.-100C>G rs199422256
NR_001566.1(TERC):n.-240_-239del rs199422255
NR_001566.1(TERC):n.100T>A rs199422269
NR_001566.1(TERC):n.107_108delinsAG rs199476393
NR_001566.1(TERC):n.110_113del rs199422270
NR_001566.1(TERC):n.116C>T rs199422272
NR_001566.1(TERC):n.117A>C rs199422273
NR_001566.1(TERC):n.143G>A rs199422274
NR_001566.1(TERC):n.178G>A rs199422275
NR_001566.1(TERC):n.180C>T rs199422276
NR_001566.1(TERC):n.204C>G rs199422277
NR_001566.1(TERC):n.216_229del rs199422278
NR_001566.1(TERC):n.28_34del rs199422259
NR_001566.1(TERC):n.2G>C rs199422257
NR_001566.1(TERC):n.305G>A rs199422279
NR_001566.1(TERC):n.322G>A rs199422280
NR_001566.1(TERC):n.323C>T rs199422281
NR_001566.1(TERC):n.374_1194del821 rs1553915517
NR_001566.1(TERC):n.391_392del rs199422283
NR_001566.1(TERC):n.408C>G rs199422284
NR_001566.1(TERC):n.410C>G rs199422286
NR_001566.1(TERC):n.48A>G rs199422262
NR_001566.1(TERC):n.53_87del rs199422264
NR_001566.1(TERC):n.54_57del rs199422263
NR_001566.1(TERC):n.72C>G rs199422265
NR_001566.1(TERC):n.79del rs199422266
NR_001566.1(TERC):n.96_97del rs199422267
NR_001566.1(TERC):n.98G>A rs199422268
OCRL:exon 6-12 del
PI NULL(HONG KONG 1) rs1057519610
PI NULL(PROCIDA)
QOgranite falls allele
SIX3:c.942G>A
Single allele
TERT:c.1710G>Y (p.Lys570Asn) rs1554041299
TGIF1:c.887C>T
TTN:c.106668delA (p.Lys35556Argfs) rs587776772
Uniparental disomy of chromosome 7
arr[hg19]17p11.2(16,757,111-20,219,651)x3
c.1069A>G
c.10_11 ins10bp
c.1180-1181delCT
c.1228G>A
c.1263+81_1596+?del
c.1308C>T
c.1323C>T
c.1330-1333delTTCC
c.2249ins9
c.2639del200nt
c.3802delG
c.52_53delCT
c.599C>T
c.667_684del(664_681del)
c.7271T>G
c.8313-2A>C
c.972T>C
c.[708G>C]+[784C>T]
c.[c.38dupA]+[1571G>A]
del(15)(q15.1-q15.3)
del(GJB6-D13S1830)
g.6109607_6112272del
g.6116239_6120157del
g.96677_99386del2710
inv(8)(q13q24.1)
inv(8)(q21.1q24.1)
m.10158T>C rs199476117
m.10191T>C rs267606890
m.10197G>A rs267606891
m.10237T>C rs1556423787
m.10663T>C rs1556423844
m.11253T>C rs200145866
m.11696G>A rs200873900
m.11777C>A rs28384199
m.12147G>A rs121434474
m.12207G>A rs118203889
m.12706T>C rs267606893
m.12770A>G rs267606894
m.12811T>C rs199974018
m.12848C>T rs267606899
m.13042G>A rs267606898
m.13084A>T rs267606896
m.13513G>A rs267606897
m.13637A>G rs200855215
m.13708G>A rs28359178
m.13730G>A rs387906425
m.14279G>A rs869025187
m.14325T>C rs397515505
m.14453G>A rs199476107
m.14459G>A rs199476105
m.14482C>A rs199476108
m.14482C>G rs199476108
m.14487T>C rs199476109
m.14495A>G rs199476106
m.14498T>C rs869025186
m.14568C>T rs397515506
m.14596A>T rs387906424
m.14831G>A rs199795644
m.15257G>A rs41518645
m.1624C>T rs199476144
m.3252A>G rs199474661
m.3256C>T rs199474659
m.3260A>G rs199474663
m.3271T>C rs199474658
m.3376G>A rs397515612
m.3635G>A rs397515507
m.3697G>A rs199476122
m.3700G>A rs397515508
m.3733G>A rs199476125
m.3946G>A rs199476123
m.3949T>C rs199476124
m.4025C>T rs397515509
m.4160T>C rs199476119
m.4171C>A rs28616230
m.4216T>C rs1599988
m.4332G>A rs199476141
m.4640C>A rs387906426
m.4681T>C rs267606889
m.5244G>A rs199476115
m.5521G>A rs199474673
m.5537_5538insT rs199474672
m.583G>A rs118203885
m.611G>A rs118203886
m.7445A>C rs199474818
m.7510T>C rs199474820
m.7511T>C rs199474821
m.7512T>C rs199474817
m.8296A>G rs118192102
m.8344A>G rs118192098
m.8356T>C rs118192099
m.8361G>A rs118192104
m.8363G>A rs118192100
m.9101T>C rs199476134
m.9537dupC rs267606614
m.961T>G rs3888511
m.961_962delTinsC(n)
m.9804G>A rs200613617
mitochondrial DNA deletion
nsv1067840
nsv1067844
nsv1197577
nsv513769
nsv930453
p.L4796C
p.M2434K
t(3;7)(q23;q31.2)
t(5;7)(q22;q31.2)
t(7;13)(q31.1;q13.2)

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