ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Eurofins Ntd Llc (ga) and "benign" from Labcorp Genetics (formerly Invitae), Labcorp

Minimum review status of the submission from Eurofins Ntd Llc (ga): Collection method of the submission from Eurofins Ntd Llc (ga):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 766
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_001305581.2(LRMDA):c.132-253012del rs146123023 0.01042
NM_005876.5(SPEG):c.116T>C (p.Val39Ala) rs565137573 0.00953
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) rs200367963 0.00653
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) rs201355503 0.00651
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_020066.5(FMN2):c.883T>C (p.Ser295Pro) rs201538863 0.00575
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481 0.00528
NM_000273.3(GPR143):c.250+11G>C rs375563631 0.00511
NM_001367624.2(ZNF469):c.11277C>T (p.Ser3759=) rs372634401 0.00490
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362 0.00410
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00409
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569 0.00389
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000843.4(GRM6):c.504+20G>C rs572890701 0.00374
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=) rs141724499 0.00360
NM_003977.4(AIP):c.100-18C>T rs202156895 0.00359
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu) rs2233061 0.00353
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_001165967.2(HES7):c.591C>T (p.Pro197=) rs558811781 0.00342
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=) rs150435442 0.00334
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00321
NM_000540.3(RYR1):c.9685+16C>T rs45496799 0.00312
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu) rs139266382 0.00309
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_004527.4(MEOX1):c.126G>A (p.Pro42=) rs141693578 0.00295
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459 0.00294
NM_006059.4(LAMC3):c.2517G>A (p.Thr839=) rs140540789 0.00292
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) rs2230516 0.00274
NM_012208.4(HARS2):c.7C>G (p.Leu3Val) rs186043734 0.00273
NM_001177316.2(SLC34A3):c.1149C>T (p.Ala383=) rs199536442 0.00271
NM_005562.3(LAMC2):c.1899G>C (p.Leu633=) rs141812464 0.00257
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser) rs35373464 0.00256
NM_001170629.2(CHD8):c.456A>G (p.Pro152=) rs61752839 0.00255
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_000444.6(PHEX):c.1344C>T (p.Asp448=) rs144911719 0.00247
NM_000261.2(MYOC):c.366C>T (p.Gly122=) rs145354114 0.00244
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly) rs531879999 0.00240
NM_006204.4(PDE6C):c.2037-7T>C rs181296577 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_002335.4(LRP5):c.2124G>A (p.Ser708=) rs140977837 0.00230
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00230
NM_001048166.1(STIL):c.1024-4T>C rs188900275 0.00229
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_003179.3(SYP):c.687C>T (p.Ala229=) rs201427270 0.00227
NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu) rs186620158 0.00221
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu) rs144746030 0.00220
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=) rs36100288 0.00220
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=) rs147768808 0.00217
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) rs137956605 0.00213
NM_018699.4(PRDM5):c.1283-5C>T rs185134294 0.00213
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His) rs142799217 0.00211
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=) rs138823379 0.00210
NM_004625.4(WNT7A):c.861G>A (p.Val287=) rs149962459 0.00210
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=) rs144125797 0.00205
NM_001379270.1(CNGA1):c.1031A>G (p.Lys344Arg) rs140419673 0.00205
NM_000601.6(HGF):c.1008G>A (p.Glu336=) rs148714837 0.00202
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146 0.00202
NM_000095.3(COMP):c.218-15C>A rs542886784 0.00199
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_000540.3(RYR1):c.271-7C>G rs192495718 0.00197
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr) rs150426222 0.00197
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530 0.00192
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg) rs61751972 0.00190
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=) rs117685425 0.00190
NM_001195263.2(PDZD7):c.2719-9C>A rs184247824 0.00189
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766 0.00183
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_153676.4(USH1C):c.2014-1G>A rs150567427 0.00183
NM_000539.3(RHO):c.480C>A (p.Thr160=) rs151063543 0.00180
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=) rs114179357 0.00180
NM_005559.4(LAMA1):c.6354C>T (p.Val2118=) rs150849018 0.00180
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile) rs150112560 0.00179
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly) rs148168366 0.00178
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=) rs149233888 0.00176
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522 0.00175
NM_005522.5(HOXA1):c.684A>G (p.Gln228=) rs34462126 0.00175
NM_002181.4(IHH):c.1051G>A (p.Val351Met) rs143959492 0.00174
NM_018451.5(CPAP):c.2992-18G>T rs67311635 0.00174
NM_001366722.1(GRIP1):c.3207C>T (p.Pro1069=) rs187691546 0.00172
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00170
NM_004625.4(WNT7A):c.555C>T (p.Asn185=) rs149363953 0.00170
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=) rs148008235 0.00168
NM_004727.3(SLC24A1):c.1131C>T (p.Thr377=) rs199504782 0.00168
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_014319.5(LEMD3):c.862C>G (p.Arg288Gly) rs144086377 0.00167
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu) rs144664865 0.00166
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_004608.4(TBX6):c.353+9C>A rs369603655 0.00165
NM_003193.5(TBCE):c.394G>A (p.Val132Ile) rs144448831 0.00164
NM_201548.5(CERKL):c.27G>A (p.Arg9=) rs368855330 0.00164
NM_001304438.2(TMEM132E):c.1758C>T (p.Cys586=) rs144692952 0.00163
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539 0.00160
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215 0.00160
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=) rs144192700 0.00159
NM_025074.7(FRAS1):c.7029+7G>A rs183687186 0.00159
NM_153212.3(GJB4):c.495C>T (p.Ser165=) rs147912521 0.00159
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg) rs183969516 0.00158
NM_019066.5(MAGEL2):c.1470G>A (p.Pro490=) rs771501846 0.00157
NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=) rs113358058 0.00157
NM_012301.4(MAGI2):c.2142G>A (p.Pro714=) rs144574076 0.00156
NM_016239.4(MYO15A):c.4623G>A (p.Thr1541=) rs926074 0.00155
NM_025009.5(CEP135):c.1740A>G (p.Arg580=) rs59759676 0.00155
NM_000362.5(TIMP3):c.516C>T (p.Phe172=) rs149161075 0.00154
NM_000618.5(IGF1):c.207G>A (p.Arg69=) rs147960415 0.00152
NM_133259.4(LRPPRC):c.3275+7G>A rs111392631 0.00152
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=) rs369083434 0.00149
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=) rs146028040 0.00147
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=) rs137973298 0.00146
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) rs138464813 0.00145
NM_003742.4(ABCB11):c.156G>A (p.Arg52=) rs140587295 0.00145
NM_003846.3(PEX11B):c.483A>G (p.Gly161=) rs148000769 0.00144
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029 0.00143
NM_181741.4(ORC4):c.353T>C (p.Leu118Ser) rs61750441 0.00143
NM_000326.5(RLBP1):c.141+6G>A rs181321141 0.00142
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486 0.00142
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=) rs141095352 0.00141
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=) rs114797034 0.00140
NM_015311.3(OBSL1):c.2466C>T (p.Ser822=) rs146306059 0.00140
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00138
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His) rs139991238 0.00137
NM_001378609.3(OTOGL):c.3213+10C>T rs201373228 0.00137
NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser) rs117433399 0.00136
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=) rs189042259 0.00135
NM_001378477.3(NYX):c.1188G>A (p.Pro396=) rs139558261 0.00135
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_012254.3(SLC27A5):c.899-6C>T rs200114980 0.00135
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937 0.00134
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys) rs149510892 0.00134
NM_001170629.2(CHD8):c.5390+10A>T rs181227407 0.00133
NM_001367624.2(ZNF469):c.9516C>T (p.Ala3172=) rs577913880 0.00131
NM_019066.5(MAGEL2):c.406G>A (p.Gly136Arg) rs570335069 0.00131
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858 0.00131
NM_000875.5(IGF1R):c.3918C>T (p.Asp1306=) rs34364279 0.00130
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg) rs201373710 0.00130
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg) rs145453157 0.00129
NM_000929.3(PLA2G5):c.312T>C (p.His104=) rs149833360 0.00128
NM_000843.4(GRM6):c.1944G>T (p.Ala648=) rs62638619 0.00127
NM_001457.4(FLNB):c.6000T>C (p.Gly2000=) rs140926445 0.00127
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly) rs146685625 0.00127
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) rs142558977 0.00126
NM_006269.2(RP1):c.6024A>G (p.Lys2008=) rs147680018 0.00126
NM_002900.3(RBP3):c.63C>T (p.His21=) rs146038948 0.00125
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) rs139037316 0.00124
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_004447.6(EPS8):c.1638C>T (p.Asn546=) rs149455769 0.00123
NM_016008.4(DYNC2LI1):c.508-4G>A rs201151187 0.00123
NM_194248.3(OTOF):c.339C>T (p.Cys113=) rs139098225 0.00123
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser) rs186499459 0.00121
NM_003193.5(TBCE):c.585C>T (p.Ser195=) rs139440109 0.00120
NM_001017995.3(SH3PXD2B):c.2541C>T (p.Ala847=) rs143850475 0.00118
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249 0.00116
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_001354712.2(THRB):c.532+8G>C rs146617205 0.00116
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr) rs143484849 0.00116
NM_006343.3(MERTK):c.960+9C>A rs373198570 0.00116
NM_006383.4(CIB2):c.231G>A (p.Ala77=) rs144346527 0.00116
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118 0.00115
NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser) rs201794404 0.00115
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=) rs138184483 0.00115
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) rs150279426 0.00115
NM_025074.7(FRAS1):c.108+10T>G rs76831011 0.00115
NM_004183.4(BEST1):c.624G>A (p.Gln208=) rs150247275 0.00114
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_004625.4(WNT7A):c.213C>T (p.Asp71=) rs75651130 0.00113
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=) rs111939130 0.00113
NM_000452.3(SLC10A2):c.66T>C (p.Pro22=) rs138387807 0.00112
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574 0.00111
NM_001039141.3(TRIOBP):c.2811C>T (p.Ile937=) rs115800799 0.00111
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln) rs144492145 0.00111
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=) rs145750280 0.00111
NM_012254.3(SLC27A5):c.937C>T (p.Leu313=) rs143272701 0.00111
NM_006941.4(SOX10):c.72C>T (p.Ser24=) rs763019569 0.00110
NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His) rs149001183 0.00109
NM_001304438.2(TMEM132E):c.1572C>T (p.Leu524=) rs149974755 0.00109
NM_001177316.2(SLC34A3):c.375C>T (p.Gly125=) rs142873841 0.00108
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=) rs116413527 0.00108
NM_002335.4(LRP5):c.3990G>A (p.Ala1330=) rs147637431 0.00108
NM_002979.5(SCP2):c.900C>T (p.Asp300=) rs148423275 0.00108
NM_004530.6(MMP2):c.759C>T (p.Ser253=) rs148801200 0.00108
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=) rs139243761 0.00107
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=) rs140594137 0.00106
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_005802.5(TOPORS):c.2525C>A (p.Thr842Asn) rs139859703 0.00106
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=) rs150969538 0.00106
NM_006445.4(PRPF8):c.306C>T (p.Leu102=) rs113874709 0.00104
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=) rs150955045 0.00104
NM_025193.4(HSD3B7):c.234C>T (p.Ala78=) rs143699328 0.00104
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_001039348.3(EFEMP1):c.146A>C (p.Asp49Ala) rs55849640 0.00103
NM_004839.4(HOMER2):c.643C>T (p.Arg215Cys) rs199835958 0.00103
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=) rs151142538 0.00103
NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=) rs141472847 0.00103
NM_004608.4(TBX6):c.408C>T (p.Arg136=) rs149724027 0.00102
NM_201599.3(ZMYM3):c.195C>G (p.Gly65=) rs139405380 0.00102
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=) rs188655353 0.00101
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=) rs192375476 0.00101
NM_014989.7(RIMS1):c.2699-8T>C rs149883454 0.00100
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153 0.00099
NM_173495.3(PTCHD1):c.1311T>C (p.His437=) rs150186077 0.00099
NM_201599.3(ZMYM3):c.4065C>T (p.Arg1355=) rs142437272 0.00099
NM_001384910.1(GUCA1A):c.142C>T (p.Leu48=) rs35969994 0.00098
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397 0.00098
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935 0.00097
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=) rs138680809 0.00096
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=) rs147247206 0.00096
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=) rs141456140 0.00096
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr) rs113005049 0.00096
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_006017.3(PROM1):c.103G>C (p.Glu35Gln) rs200290535 0.00095
NM_006017.3(PROM1):c.134A>G (p.Asp45Gly) rs201559220 0.00095
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065 0.00095
NM_207361.6(FREM2):c.2367G>A (p.Pro789=) rs140101984 0.00095
NM_000452.3(SLC10A2):c.1038C>T (p.Asp346=) rs147498129 0.00094
NM_001008388.5(CISD2):c.12G>A (p.Glu4=) rs145312923 0.00094
NM_012469.4(PRPF6):c.1797G>A (p.Arg599=) rs145483312 0.00094
NM_133261.3(GIPC3):c.906C>T (p.Ala302=) rs140960269 0.00094
NM_001165967.2(HES7):c.420G>A (p.Pro140=) rs200833034 0.00093
NM_012193.4(FZD4):c.1194T>C (p.Tyr398=) rs147766472 0.00093
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala) rs114404835 0.00093
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032 0.00092
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630 0.00092
NM_004994.3(MMP9):c.1896C>T (p.Leu632=) rs202160464 0.00092
NM_022124.6(CDH23):c.4488+7C>T rs374215303 0.00092
NM_000392.5(ABCC2):c.258A>G (p.Val86=) rs142443276 0.00091
NM_001061.7(TBXAS1):c.1159G>A (p.Glu387Lys) rs3735354 0.00091
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_000082.4(ERCC8):c.66G>A (p.Glu22=) rs149130938 0.00090
NM_000124.4(ERCC6):c.2124C>T (p.Ser708=) rs114832108 0.00090
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_022095.4(ZNF335):c.2280G>A (p.Gln760=) rs148186790 0.00090
NM_019098.5(CNGB3):c.2007A>G (p.Lys669=) rs147991883 0.00089
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00088
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=) rs34966542 0.00088
NM_005802.5(TOPORS):c.2547A>G (p.Ser849=) rs150650712 0.00088
NM_006019.4(TCIRG1):c.197-5C>T rs183885218 0.00088
NM_014989.7(RIMS1):c.1764A>G (p.Gln588=) rs192179523 0.00088
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=) rs144257298 0.00088
NM_000124.4(ERCC6):c.2479C>T (p.Leu827=) rs115875661 0.00087
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487 0.00087
NM_000875.5(IGF1R):c.1956T>G (p.Pro652=) rs45598332 0.00086
NM_004560.4(ROR2):c.2461G>A (p.Val821Ile) rs149056068 0.00086
NM_004836.7(EIF2AK3):c.3153C>T (p.Tyr1051=) rs56120877 0.00086
NM_021101.5(CLDN1):c.195A>G (p.Lys65=) rs145197251 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_000208.4(INSR):c.2970G>A (p.Pro990=) rs41304772 0.00085
NM_001853.4(COL9A3):c.1242C>T (p.Pro414=) rs150153886 0.00085
NM_003742.4(ABCB11):c.174C>T (p.Asp58=) rs11568362 0.00085
NM_206933.4(USH2A):c.8559-7G>A rs199618999 0.00085
NM_001031679.3(MSRB3):c.76+7G>T rs199896714 0.00084
NM_001193315.2(VIPAS39):c.972C>T (p.Arg324=) rs147303718 0.00084
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678 0.00084
NM_001077525.3(MTMR14):c.480C>T (p.Asn160=) rs375826804 0.00083
NM_001145809.2(MYH14):c.615G>A (p.Thr205=) rs199921330 0.00083
NM_021939.4(FKBP10):c.174A>G (p.Glu58=) rs150052125 0.00083
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605 0.00081
NM_001193315.2(VIPAS39):c.598-6C>G rs141155709 0.00081
NM_001367721.1(CASK):c.2317+9T>C rs5964007 0.00081
NM_001378477.3(NYX):c.567C>A (p.Ile189=) rs746383908 0.00081
NM_005676.5(RBM10):c.1104A>G (p.Pro368=) rs149109733 0.00081
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265 0.00081
NM_173630.4(RTTN):c.1221A>G (p.Glu407=) rs112327299 0.00081
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr) rs148810231 0.00081
NM_012418.4(FSCN2):c.492C>T (p.Asp164=) rs370382419 0.00080
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093 0.00080
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_024596.5(MCPH1):c.1818C>T (p.Tyr606=) rs377400638 0.00079
NM_207361.6(FREM2):c.177T>C (p.Gly59=) rs370018440 0.00079
NM_207361.6(FREM2):c.2823C>T (p.Pro941=) rs150154438 0.00079
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594 0.00078
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val) rs149200446 0.00078
NM_022437.3(ABCG8):c.1411+8T>A rs201991639 0.00078
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=) rs200946170 0.00078
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019 0.00076
NM_001353214.3(DYM):c.946+7G>A rs150849326 0.00076
NM_024915.4(GRHL2):c.804C>T (p.Thr268=) rs55682875 0.00076
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys) rs201236317 0.00076
NM_003179.3(SYP):c.612G>A (p.Ser204=) rs145093168 0.00075
NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp) rs142985827 0.00075
NM_001017420.3(ESCO2):c.1013+7A>G rs149494070 0.00074
NM_000163.5(GHR):c.686G>A (p.Arg229His) rs6177 0.00073
NM_000260.4(MYO7A):c.3503+17G>A rs369969967 0.00073
NM_001378414.1(HDAC4):c.681C>T (p.His227=) rs148880349 0.00073
NM_001379180.1(ESRRB):c.414G>A (p.Val138=) rs141586518 0.00073
NM_002473.6(MYH9):c.2871C>T (p.Ser957=) rs374840260 0.00073
NM_005068.3(SIM1):c.279C>T (p.Phe93=) rs145361258 0.00073
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00073
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) rs140815139 0.00073
NM_001368397.1(FRMPD4):c.2829C>T (p.Tyr943=) rs140515130 0.00072
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=) rs146858888 0.00071
NM_004568.6(SERPINB6):c.750C>T (p.Tyr250=) rs35617833 0.00070
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705 0.00069
NM_014927.5(CNKSR2):c.2199G>A (p.Thr733=) rs113091231 0.00069
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=) rs149776188 0.00068
NM_001368397.1(FRMPD4):c.3738C>T (p.His1246=) rs151079505 0.00067
NM_004403.3(GSDME):c.823A>G (p.Ile275Val) rs149956122 0.00067
NM_016239.4(MYO15A):c.8157C>T (p.His2719=) rs373955726 0.00067
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_002473.6(MYH9):c.591G>A (p.Ser197=) rs140241271 0.00066
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) rs148185533 0.00066
NM_004463.3(FGD1):c.1647G>A (p.Glu549=) rs142114385 0.00066
NM_000660.7(TGFB1):c.918C>T (p.Leu306=) rs72480429 0.00065
NM_004086.3(COCH):c.153A>C (p.Pro51=) rs573330522 0.00065
NM_004608.4(TBX6):c.585C>T (p.Val195=) rs148435229 0.00065
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala) rs140286824 0.00065
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504 0.00065
NM_001256789.3(CACNA1F):c.3930C>A (p.Ile1310=) rs144131971 0.00064
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688 0.00064
NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp) rs201086495 0.00063
NM_006516.4(SLC2A1):c.276-7T>C rs369273744 0.00063
NM_006662.3(SRCAP):c.5469T>C (p.Leu1823=) rs370111987 0.00063
NM_133497.4(KCNV2):c.756G>A (p.Lys252=) rs138861317 0.00063
NM_001457.4(FLNB):c.6843C>T (p.Ile2281=) rs140332932 0.00062
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg) rs147091667 0.00062
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=) rs144228973 0.00061
NM_004463.3(FGD1):c.622T>C (p.Ser208Pro) rs148139633 0.00061
NM_005562.3(LAMC2):c.1318A>G (p.Ile440Val) rs147889360 0.00061
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=) rs138152469 0.00061
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=) rs148451236 0.00061
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr) rs183880522 0.00060
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys) rs376401006 0.00060
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr) rs199833843 0.00060
NM_153676.4(USH1C):c.360C>T (p.Gly120=) rs140869579 0.00060
NM_183357.3(ADCY5):c.3336C>T (p.Ser1112=) rs141922371 0.00059
NM_001159773.2(CANT1):c.966C>T (p.Ser322=) rs140989921 0.00058
NM_000460.4(THPO):c.639T>A (p.Thr213=) rs1042348 0.00057
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) rs190978463 0.00057
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=) rs76302654 0.00056
NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser) rs181854355 0.00056
NM_014208.3(DSPP):c.768C>T (p.Asp256=) rs374400491 0.00055
NM_002473.6(MYH9):c.1566G>A (p.Pro522=) rs145517108 0.00054
NM_000390.4(CHM):c.1244+8T>A rs369829791 0.00053
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_006009.4(TUBA1A):c.4-7C>T rs560491477 0.00053
NM_006922.4(SCN3A):c.1381-4A>G rs199597878 0.00053
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr) rs200576500 0.00053
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904 0.00052
NM_000875.5(IGF1R):c.3187-5C>T rs45495500 0.00052
NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=) rs367905297 0.00052
NM_004817.4(TJP2):c.981C>A (p.Ile327=) rs147139671 0.00052
NM_014319.5(LEMD3):c.292C>T (p.Leu98Phe) rs571742271 0.00052
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) rs150854966 0.00052
NM_000372.5(TYR):c.504C>T (p.Asn168=) rs148813091 0.00051
NM_001083961.2(WDR62):c.477G>A (p.Ala159=) rs146485488 0.00051
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114 0.00051
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) rs143583842 0.00051
NM_006946.4(SPTBN2):c.24A>G (p.Thr8=) rs141277535 0.00051
NM_014014.5(SNRNP200):c.4935G>A (p.Val1645=) rs375650263 0.00051
NM_001146079.2(CLDN14):c.690C>T (p.His230=) rs149733854 0.00050
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg) rs199940188 0.00050
NM_004700.4(KCNQ4):c.708+9T>A rs191389529 0.00050
NM_004407.4(DMP1):c.1107C>T (p.Asp369=) rs147451774 0.00049
NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=) rs369391284 0.00049
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_004187.5(KDM5C):c.465C>T (p.Ser155=) rs138520224 0.00048
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala) rs147012050 0.00048
NM_006922.4(SCN3A):c.642G>A (p.Ala214=) rs575814709 0.00048
NM_012254.3(SLC27A5):c.1377+10C>T rs146267408 0.00048
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=) rs376298949 0.00048
NM_000208.4(INSR):c.41T>C (p.Leu14Pro) rs745857330 0.00047
NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=) rs61753580 0.00047
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser) rs151221957 0.00046
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356 0.00046
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00046
NM_000095.3(COMP):c.763-8T>C rs374063820 0.00045
NM_001374385.1(ATP8B1):c.2595C>T (p.Cys865=) rs201885528 0.00045
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr) rs369777874 0.00045
NM_004817.4(TJP2):c.2880+19C>T rs200384355 0.00044
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00044
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00043
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) rs138980048 0.00043
NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu) rs145234666 0.00042
NM_130837.3(OPA1):c.2610C>T (p.Thr870=) rs139934030 0.00042
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) rs146646008 0.00041
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile) rs147652186 0.00041
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) rs143947828 0.00041
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln) rs141862495 0.00040
NM_004463.3(FGD1):c.281A>G (p.His94Arg) rs189159946 0.00040
NM_006086.4(TUBB3):c.357G>A (p.Val119=) rs34174718 0.00040
NM_007317.3(KIF22):c.1619A>T (p.Gln540Leu) rs148628152 0.00040
NM_019066.5(MAGEL2):c.1175C>T (p.Thr392Met) rs781777662 0.00040
NM_000142.5(FGFR3):c.252G>A (p.Ser84=) rs367973461 0.00039
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3]) rs398123469 0.00039
NM_002381.5(MATN3):c.330C>T (p.Ile110=) rs201755444 0.00039
NM_006445.4(PRPF8):c.4524C>T (p.Gly1508=) rs144851263 0.00039
NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met) rs374606481 0.00039
NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg) rs148114532 0.00039
NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg) rs139531639 0.00038
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=) rs149711133 0.00038
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) rs202106463 0.00038
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000780.4(CYP7A1):c.123C>T (p.Tyr41=) rs150351766 0.00037
NM_001145809.2(MYH14):c.1115-4C>T rs142696359 0.00036
NM_004698.4(PRPF3):c.1032A>G (p.Thr344=) rs143350315 0.00036
NM_006516.4(SLC2A1):c.498C>T (p.Val166=) rs150971143 0.00036
NM_006946.4(SPTBN2):c.1719C>T (p.His573=) rs148207416 0.00036
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=) rs377369857 0.00036
NM_000444.6(PHEX):c.2214G>A (p.Thr738=) rs140742016 0.00035
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=) rs757294519 0.00035
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=) rs371988852 0.00035
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_002381.5(MATN3):c.792G>A (p.Ala264=) rs201563567 0.00035
NM_004385.5(VCAN):c.5859G>T (p.Thr1953=) rs80028865 0.00035
NM_005333.5(HCCS):c.521C>T (p.Ala174Val) rs367601527 0.00035
NM_015629.4(PRPF31):c.540G>A (p.Ser180=) rs148941732 0.00035
NM_144631.6(ZNF513):c.519C>T (p.Ser173=) rs199520071 0.00035
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=) rs116122164 0.00034
NM_001852.4(COL9A2):c.2058C>T (p.Ile686=) rs115675008 0.00034
NM_006941.4(SOX10):c.753G>A (p.Ser251=) rs376907937 0.00033
NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr) rs201033114 0.00033
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn) rs45476795 0.00032
NM_003742.4(ABCB11):c.1248C>A (p.Ile416=) rs183390670 0.00032
NM_004595.5(SMS):c.978G>A (p.Ser326=) rs150564614 0.00032
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343 0.00032
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=) rs77053118 0.00031
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=) rs373050209 0.00031
NM_001278116.2(L1CAM):c.630C>T (p.His210=) rs28933683 0.00031
NM_001457.4(FLNB):c.7254C>T (p.Ser2418=) rs563382903 0.00031
NM_003722.5(TP63):c.1827A>G (p.Glu609=) rs147538847 0.00031
NM_004817.4(TJP2):c.3160A>G (p.Thr1054Ala) rs57728054 0.00031
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_015922.3(NSDHL):c.773C>T (p.Ser258Leu) rs373717198 0.00031
NM_000381.4(MID1):c.1988C>T (p.Thr663Ile) rs138558359 0.00030
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr) rs199960807 0.00030
NM_003392.7(WNT5A):c.417C>T (p.Tyr139=) rs371576999 0.00030
NM_000523.4(HOXD13):c.135C>T (p.Ser45=) rs757175860 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001854.4(COL11A1):c.1489-5C>A rs370997745 0.00029
NM_015311.3(OBSL1):c.1599G>A (p.Thr533=) rs149009269 0.00029
NM_130837.3(OPA1):c.921C>T (p.Asp307=) rs147242797 0.00029
NM_198129.4(LAMA3):c.7505A>G (p.Asn2502Ser) rs139823161 0.00029
NM_000275.3(OCA2):c.45G>A (p.Pro15=) rs202091837 0.00028
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=) rs142563956 0.00028
NM_016239.4(MYO15A):c.2225G>T (p.Arg742Leu) rs772776336 0.00028
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_001199799.2(ILDR1):c.1377C>T (p.His459=) rs201105694 0.00027
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) rs143396390 0.00027
NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu) rs199792315 0.00027
NM_033380.3(COL4A5):c.3023A>G (p.Lys1008Arg) rs142929745 0.00027
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576 0.00027
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00026
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334 0.00026
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=) rs370000816 0.00026
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=) rs201893489 0.00026
NM_000124.4(ERCC6):c.438C>T (p.Ser146=) rs138756386 0.00025
NM_002473.6(MYH9):c.1479G>A (p.Gln493=) rs376262583 0.00025
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val) rs142574684 0.00025
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala) rs140680467 0.00024
NM_000883.4(IMPDH1):c.624C>G (p.Pro208=) rs758909916 0.00024
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088 0.00024
NM_015338.6(ASXL1):c.2336C>T (p.Pro779Leu) rs41289850 0.00024
NM_031407.7(HUWE1):c.6126G>A (p.Gly2042=) rs149577148 0.00024
NM_032119.4(ADGRV1):c.10322G>C (p.Gly3441Ala) rs200464486 0.00024
NM_000382.3(ALDH3A2):c.1108-3C>T rs148944691 0.00023
NM_001177316.2(SLC34A3):c.1473C>T (p.Tyr491=) rs148095831 0.00022
NM_001493.3(GDI1):c.1167C>T (p.Pro389=) rs140855833 0.00022
NM_022437.3(ABCG8):c.322+6G>A rs181319879 0.00022
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val) rs375921325 0.00022
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu) rs145778165 0.00021
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) rs144249535 0.00021
NM_001083961.2(WDR62):c.820T>G (p.Tyr274Asp) rs746156911 0.00021
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=) rs145823218 0.00021
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr) rs200625964 0.00021
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=) rs369039902 0.00021
NM_002900.3(RBP3):c.1514A>T (p.His505Leu) rs201808774 0.00021
NM_004463.3(FGD1):c.1563C>T (p.Pro521=) rs201996522 0.00021
NM_006329.4(FBLN5):c.621T>C (p.Asp207=) rs200178859 0.00021
NM_022455.5(NSD1):c.1635G>A (p.Thr545=) rs371958844 0.00021
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695 0.00021
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653 0.00020
NM_004839.4(HOMER2):c.609G>T (p.Gln203His) rs200964994 0.00020
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg) rs187218889 0.00020
NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=) rs757948524 0.00019
NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln) rs200996196 0.00019
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998 0.00019
NM_012254.3(SLC27A5):c.2070C>G (p.Leu690=) rs184994408 0.00019
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397 0.00018
NM_004463.3(FGD1):c.2289G>A (p.Lys763=) rs150865566 0.00018
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_194248.3(OTOF):c.4946T>C (p.Ile1649Thr) rs146618661 0.00018
NM_001083961.2(WDR62):c.1233+7C>G rs537771936 0.00017
NM_004463.3(FGD1):c.27C>T (p.Gly9=) rs377441190 0.00017
NM_006766.5(KAT6A):c.1342A>G (p.Ser448Gly) rs149459548 0.00017
NM_014989.7(RIMS1):c.3399-4A>G rs368216570 0.00017
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000540.3(RYR1):c.2319C>T (p.Asp773=) rs374924686 0.00016
NM_001042472.3(ABHD12):c.787+3G>A rs202150912 0.00016
NM_006915.3(RP2):c.30G>A (p.Lys10=) rs782402689 0.00016
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) rs199975643 0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) rs376688581 0.00015
NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg) rs746952369 0.00015
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_001374385.1(ATP8B1):c.2928G>A (p.Ala976=) rs201803908 0.00014
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925 0.00014
NM_002472.3(MYH8):c.5293-1G>A rs144785726 0.00014
NM_004595.5(SMS):c.661-5C>T rs371972467 0.00014
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099 0.00014
NM_025193.4(HSD3B7):c.714C>T (p.His238=) rs147510106 0.00014
NM_030665.4(RAI1):c.1837G>A (p.Gly613Arg) rs200955853 0.00014
NM_033380.3(COL4A5):c.858T>C (p.Gly286=) rs183837448 0.00014
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) rs397517991 0.00014
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His) rs372241697 0.00013
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu) rs145861489 0.00013
NM_001966.4(EHHADH):c.1608G>A (p.Gly536=) rs141355337 0.00013
NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser) rs140662138 0.00013
NM_006269.2(RP1):c.4299A>G (p.Ala1433=) rs148918111 0.00013
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743 0.00013
NM_138927.4(SON):c.5200G>A (p.Val1734Met) rs146053621 0.00013
NM_203475.3(PORCN):c.288C>T (p.Gly96=) rs200263603 0.00013
NM_000260.4(MYO7A):c.4441+7C>T rs372493678 0.00012
NM_002547.3(OPHN1):c.1184A>G (p.Asn395Ser) rs150084635 0.00012
NM_002979.5(SCP2):c.1469-10T>C rs761545816 0.00012
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109 0.00012
NM_000266.4(NDP):c.11A>T (p.His4Leu) rs149708528 0.00011
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=) rs189790119 0.00011
NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp) rs761806977 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_022437.3(ABCG8):c.1212-7T>A rs759300542 0.00011
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082 0.00010
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) rs199592861 0.00010
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161 0.00010
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=) rs191471887 0.00009
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=) rs186672543 0.00009
NM_001206979.2(NR1H4):c.795C>T (p.Asn265=) rs147030757 0.00009
NM_001277313.2(FMN1):c.2044-1533T>G rs200018358 0.00009
NM_001379081.2(FREM1):c.571G>A (p.Gly191Arg) rs370556388 0.00009
NM_006941.4(SOX10):c.574G>A (p.Gly192Ser) rs200475773 0.00009
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359 0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_015338.6(ASXL1):c.2387G>C (p.Trp796Ser) rs770674396 0.00009
NM_018006.5(TRMU):c.351T>C (p.Asn117=) rs117710834 0.00009
NM_022437.3(ABCG8):c.870C>T (p.Thr290=) rs117221284 0.00009
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr) rs143585233 0.00009
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) rs192003514 0.00009
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714 0.00009
NM_172364.5(CACNA2D4):c.1968C>T (p.His656=) rs200706568 0.00009
NM_000444.6(PHEX):c.1917C>A (p.Thr639=) rs201343697 0.00008
NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser) rs186535459 0.00008
NM_001193315.2(VIPAS39):c.1254T>C (p.Asn418=) rs188105111 0.00008
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile) rs141840001 0.00008
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys) rs781229123 0.00008
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=) rs201989024 0.00008
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly) rs775641112 0.00008
NM_001367721.1(CASK):c.1669-8C>G rs201327474 0.00007
NM_003491.4(NAA10):c.564G>A (p.Pro188=) rs150971216 0.00007
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) rs782413552 0.00007
NM_004463.3(FGD1):c.440G>A (p.Arg147His) rs200707592 0.00007
NM_005559.4(LAMA1):c.3256G>A (p.Asp1086Asn) rs201831309 0.00007
NM_015884.4(MBTPS2):c.706A>G (p.Ile236Val) rs369520528 0.00007
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_181303.2(NLGN3):c.282G>A (p.Ser94=) rs143817848 0.00007
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000390.4(CHM):c.957A>G (p.Thr319=) rs373242750 0.00006
NM_001029883.3(PCARE):c.1215C>T (p.Gly405=) rs754808908 0.00006
NM_001127644.2(GABRA1):c.704-10T>C rs188133840 0.00006
NM_001367721.1(CASK):c.1315-10A>G rs375004542 0.00006
NM_001457.4(FLNB):c.1946G>A (p.Arg649Gln) rs145910735 0.00006
NM_001793.6(CDH3):c.1704G>A (p.Thr568=) rs561193756 0.00006
NM_003722.5(TP63):c.1083G>A (p.Lys361=) rs148937466 0.00006
NM_006015.6(ARID1A):c.5246G>A (p.Arg1749Lys) rs370901533 0.00006
NM_014989.7(RIMS1):c.1533G>A (p.Pro511=) rs201473375 0.00006
NM_014989.7(RIMS1):c.4506-5G>A rs201556693 0.00006
NM_016366.3(CABP2):c.345C>A (p.Thr115=) rs376093439 0.00006
NM_022455.5(NSD1):c.1829A>G (p.Gln610Arg) rs142544192 0.00006
NM_025074.7(FRAS1):c.39G>A (p.Ala13=) rs773457837 0.00006
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser) rs145732429 0.00006
NM_000381.4(MID1):c.1663A>C (p.Ile555Leu) rs398123341 0.00005
NM_000381.4(MID1):c.99C>T (p.Cys33=) rs727504015 0.00005
NM_001367721.1(CASK):c.42G>C (p.Leu14=) rs377590077 0.00005
NM_002473.6(MYH9):c.3213C>T (p.Ile1071=) rs552133535 0.00005
NM_003491.4(NAA10):c.201G>C (p.Val67=) rs375971315 0.00005
NM_003742.4(ABCB11):c.3214-6C>G rs750991541 0.00005
NM_004463.3(FGD1):c.2047-5C>A rs368646447 0.00005
NM_004463.3(FGD1):c.2314G>A (p.Val772Ile) rs373950992 0.00005
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=) rs748935500 0.00005
NM_015629.4(PRPF31):c.138T>C (p.Asp46=) rs76251057 0.00005
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=) rs756879923 0.00005
NM_022124.6(CDH23):c.330C>T (p.His110=) rs201232514 0.00005
NM_000335.5(SCN5A):c.435C>T (p.Cys145=) rs587781159 0.00004
NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln) rs200809259 0.00004
NM_001457.4(FLNB):c.1303G>A (p.Asp435Asn) rs781162510 0.00004
NM_002473.6(MYH9):c.4150G>C (p.Glu1384Gln) rs200616409 0.00004
NM_003742.4(ABCB11):c.2908C>T (p.Pro970Ser) rs779096015 0.00004
NM_003846.3(PEX11B):c.374+9T>C rs200094067 0.00004
NM_004187.5(KDM5C):c.25C>T (p.Leu9=) rs782183376 0.00004
NM_004817.4(TJP2):c.2751C>T (p.Arg917=) rs184519036 0.00004
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=) rs55693364 0.00004
NM_020754.4(ARHGAP31):c.3255C>T (p.Pro1085=) rs372301689 0.00004
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val) rs746599803 0.00004
NM_030665.4(RAI1):c.2074G>A (p.Val692Met) rs398124415 0.00004
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu) rs782526786 0.00004
NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val) rs143965711 0.00004
NM_000307.5(POU3F4):c.588G>C (p.Gln196His) rs770776910 0.00003
NM_000330.4(RS1):c.234G>A (p.Pro78=) rs183092299 0.00003
NM_000540.3(RYR1):c.9723C>T (p.Pro3241=) rs199828145 0.00003
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn) rs148516831 0.00003
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) rs76106850 0.00003
NM_001844.5(COL2A1):c.2143C>T (p.Leu715Phe) rs1482498887 0.00003
NM_003839.4(TNFRSF11A):c.1340C>T (p.Thr447Ile) rs776173779 0.00003
NM_014927.5(CNKSR2):c.1458A>G (p.Arg486=) rs760890681 0.00003
NM_030665.4(RAI1):c.5023G>C (p.Val1675Leu) rs113210810 0.00003
NM_080680.3(COL11A2):c.3352C>A (p.Gln1118Lys) rs369849667 0.00003
NM_000391.4(TPP1):c.1552-9C>T rs369699167 0.00002
NM_000392.5(ABCC2):c.3927C>T (p.Tyr1309=) rs4148401 0.00002
NM_000444.6(PHEX):c.1675T>C (p.Phe559Leu) rs762828809 0.00002
NM_001278116.2(L1CAM):c.1249G>A (p.Ala417Thr) rs782331927 0.00002
NM_001278116.2(L1CAM):c.1379+3G>A rs782455321 0.00002
NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=) rs201372074 0.00002
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=) rs782223025 0.00002
NM_001353214.3(DYM):c.288-10G>A rs557407004 0.00002
NM_001830.4(CLCN4):c.1503G>A (p.Arg501=) rs398123627 0.00002
NM_002473.6(MYH9):c.3591C>T (p.Ala1197=) rs549408462 0.00002
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser) rs775353413 0.00002
NM_012301.4(MAGI2):c.2830T>C (p.Ser944Pro) rs751956751 0.00002
NM_012469.4(PRPF6):c.1368G>A (p.Ala456=) rs139828718 0.00002
NM_014014.5(SNRNP200):c.6093-7C>A rs201143866 0.00002
NM_018136.5(ASPM):c.2205G>A (p.Glu735=) rs755350285 0.00002
NM_018965.4(TREM2):c.677-6T>C rs199910080 0.00002
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser) rs548098742 0.00002
NM_032119.4(ADGRV1):c.1189A>G (p.Ser397Gly) rs377201437 0.00002
NM_032119.4(ADGRV1):c.1210G>A (p.Val404Ile) rs780748586 0.00002
NM_032119.4(ADGRV1):c.1675T>C (p.Tyr559His) rs779671690 0.00002
NM_032119.4(ADGRV1):c.18348C>T (p.Ser6116=) rs774124713 0.00002
NM_000251.3(MSH2):c.-9G>C rs547444746 0.00001
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=) rs782163200 0.00001
NM_000350.3(ABCA4):c.769-3C>T rs368010652 0.00001
NM_000352.6(ABCC8):c.279C>A (p.Ile93=) rs550990673 0.00001
NM_000430.4(PAFAH1B1):c.570C>T (p.Gly190=) rs758682063 0.00001
NM_001278116.2(L1CAM):c.591T>C (p.Asn197=) rs375862497 0.00001
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His) rs200402620 0.00001
NM_001367721.1(CASK):c.1503+3A>G rs1468715588 0.00001
NM_001367721.1(CASK):c.2317C>T (p.His773Tyr) rs398123811 0.00001
NM_001844.5(COL2A1):c.2943C>T (p.Gly981=) rs566132150 0.00001
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) rs1135057 0.00001
NM_001854.4(COL11A1):c.1359G>A (p.Met453Ile) rs755173952 0.00001
NM_001854.4(COL11A1):c.893C>T (p.Thr298Met) rs398123652 0.00001
NM_004086.3(COCH):c.239+5G>A rs563163157 0.00001
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) rs548504035 0.00001
NM_006766.5(KAT6A):c.3026C>T (p.Thr1009Met) rs750975358 0.00001
NM_014014.5(SNRNP200):c.5520C>G (p.Thr1840=) rs368225080 0.00001
NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp) rs549244691 0.00001
NM_030665.4(RAI1):c.3913G>A (p.Ala1305Thr) rs794727521 0.00001
NM_031407.7(HUWE1):c.10492G>A (p.Ala3498Thr) rs782773400 0.00001
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=) rs529962978 0.00001
NM_080680.3(COL11A2):c.3182G>A (p.Arg1061Gln) rs528982644 0.00001
NM_000091.5(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000372.5(TYR):c.1037-10dup rs747032303
NM_000381.4(MID1):c.1767T>C (p.Asn589=) rs750022332
NM_000391.4(TPP1):c.687+20C>T rs569432039
NM_000392.5(ABCC2):c.3498C>T (p.Thr1166=) rs564908429
NM_000458.4(HNF1B):c.1488C>T (p.Ala496=) rs773569563
NM_000516.7(GNAS):c.531-13_531-10del rs576071932
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=) rs377664510
NM_000843.4(GRM6):c.2610C>T (p.Gly870=) rs61731186
NM_001017995.3(SH3PXD2B):c.1063-7G>T rs186443822
NM_001029883.3(PCARE):c.537T>C (p.Pro179=) rs201965800
NM_001039141.3(TRIOBP):c.6472+14G>T rs45503898
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001256789.3(CACNA1F):c.2387-19del rs375791434
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992
NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=) rs41303149
NM_001374385.1(ATP8B1):c.182-5dup rs34583775
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_001457.4(FLNB):c.3163G>T (p.Val1055Leu) rs9813235
NM_001844.5(COL2A1):c.644C>A (p.Ala215Glu) rs766480693
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu) rs141817156
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_002381.5(MATN3):c.90C>G (p.Pro30=) rs996766896
NM_003742.4(ABCB11):c.1404T>A (p.Ile468=) rs34200464
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys) rs160278
NM_004385.5(VCAN):c.927T>C (p.Thr309=) rs536465380
NM_004560.4(ROR2):c.298G>A (p.Ala100Thr) rs374692105
NM_004606.5(TAF1):c.5499GGA[2] (p.Glu1837del) rs779870273
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.3408-6del rs778863371
NM_004839.4(HOMER2):c.763-8del rs567936162
NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup) rs749970078
NM_006017.3(PROM1):c.879C>T (p.Ser293=) rs148242593
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe) rs572444748
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) rs151325202
NM_006343.3(MERTK):c.773C>A (p.Ala258Glu) rs35252762
NM_006922.4(SCN3A):c.3844-19dup rs71028466
NM_007055.4(POLR3A):c.1771-5del rs544204280
NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=) rs144934076
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014639.4(SKIC3):c.3015-14dup rs745805590
NM_014639.4(SKIC3):c.4497-14dup rs755628334
NM_014780.5(CUL7):c.2229C>G (p.Ala743=) rs188565648
NM_015629.4(PRPF31):c.527+9G>T rs376994481
NM_015922.3(NSDHL):c.842G>A (p.Arg281His) rs782143078
NM_016247.4(IMPG2):c.534-13dup rs567795716
NM_017547.4(FOXRED1):c.9G>A (p.Arg3=) rs28372779
NM_018136.5(ASPM):c.9830-8dup rs748383126
NM_019066.5(MAGEL2):c.1344ACCCGTGATCCGCCAGGCCCC[1] (p.442PVIRQAP[2]) rs794726941
NM_019066.5(MAGEL2):c.1404CCCACCTGTGATCCGCCAGGC[1] (p.464VIRQAPP[3]) rs1386125417
NM_019066.5(MAGEL2):c.479CCCATCCTCCTCCTCCGGGGACCCCGATGG[1] (p.160AHPPPPGTPM[1]) rs751352401
NM_019066.5(MAGEL2):c.939CCCACCTGCACAGCCGATGGC[1] (p.314PPAQPMA[1]) rs528108868
NM_021728.4(OTX2):c.444G>C (p.Pro148=) rs147896150
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val) rs573057228
NM_022455.5(NSD1):c.7632C>T (p.Ala2544=) rs886042468
NM_024596.5(MCPH1):c.90A>G (p.Thr30=) rs139678787
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro) rs146117200
NM_030665.4(RAI1):c.2659A>G (p.Met887Val) rs794727523
NM_032119.4(ADGRV1):c.18229G>A (p.Val6077Met) rs762746997
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335
NM_032119.4(ADGRV1):c.8730+9_8730+10del rs780180737
NM_130837.3(OPA1):c.1755-6dup rs748933560
NM_172364.5(CACNA2D4):c.1239G>A (p.Pro413=) rs201783863
NM_194248.3(OTOF):c.1803+7dup rs755835793
NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del) rs145776307
NM_201548.5(CERKL):c.132G>C (p.Glu44Asp) rs727503857
NM_207352.4(CYP4V2):c.1479C>T (p.Asn493=) rs374270799
NM_207361.6(FREM2):c.7520-10_7520-9insCT rs1399473815

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