NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly)
|
rs141683210
|
0.00056
|
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu)
|
rs147766428
|
0.00056
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_016004.5(IFT52):c.157G>A (p.Val53Met)
|
rs137979762
|
0.00043
|
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser)
|
rs66864704
|
0.00036
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)
|
rs121912974
|
0.00023
|
NM_012414.4(RAB3GAP2):c.1960T>C (p.Ser654Pro)
|
rs147587414
|
0.00023
|
NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp)
|
rs369359789
|
0.00022
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)
|
rs374963432
|
0.00018
|
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter)
|
rs111033383
|
0.00012
|
NM_018451.5(CENPJ):c.634G>T (p.Glu212Ter)
|
rs765113367
|
0.00011
|
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)
|
rs564930066
|
0.00010
|
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala)
|
rs139471471
|
0.00010
|
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)
|
rs758719669
|
0.00009
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_000057.4(BLM):c.2237C>T (p.Ala746Val)
|
rs769498533
|
0.00006
|
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)
|
rs78194216
|
0.00006
|
NM_001278064.2(GRM1):c.827A>C (p.Lys276Thr)
|
rs192397712
|
0.00006
|
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)
|
rs782261248
|
0.00006
|
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)
|
rs398123799
|
0.00005
|
NM_000211.5(ITGB2):c.897+1G>A
|
rs201752283
|
0.00004
|
NM_016004.5(IFT52):c.1189C>T (p.Pro397Ser)
|
rs764053825
|
0.00004
|
NM_018451.5(CENPJ):c.289dup (p.Thr97fs)
|
rs759188041
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg)
|
rs121913551
|
0.00003
|
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)
|
rs398123373
|
0.00003
|
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)
|
rs587778540
|
0.00003
|
NM_001267550.2(TTN):c.77540C>T (p.Thr25847Ile)
|
rs917984063
|
0.00003
|
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)
|
rs758195453
|
0.00003
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr)
|
rs1292380177
|
0.00002
|
NM_001376256.1(CRYM):c.907G>A (p.Ala303Thr)
|
rs727502945
|
0.00002
|
NM_012205.3(HAAO):c.21del (p.Arg8fs)
|
rs1227604776
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)
|
rs1260264247
|
0.00002
|
NM_138691.3(TMC1):c.1312G>A (p.Ala438Thr)
|
rs745495139
|
0.00002
|
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
|
rs148617572
|
0.00002
|
NM_153717.3(EVC):c.2782+1G>T
|
rs1007534611
|
0.00002
|
NM_000211.5(ITGB2):c.562C>T (p.Arg188Ter)
|
rs148877937
|
0.00001
|
NM_000211.5(ITGB2):c.814G>A (p.Asp272Asn)
|
rs749335770
|
0.00001
|
NM_000277.3(PAH):c.307G>T (p.Gly103Cys)
|
rs752792040
|
0.00001
|
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
|
rs1032781250
|
0.00001
|
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)
|
rs202247791
|
0.00001
|
NM_000455.5(STK11):c.1012G>A (p.Val338Met)
|
rs587782302
|
0.00001
|
NM_000492.4(CFTR):c.1680-1G>A
|
rs121908794
|
0.00001
|
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp)
|
rs1008210645
|
0.00001
|
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter)
|
rs782138777
|
0.00001
|
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp)
|
rs1270099780
|
0.00001
|
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly)
|
rs922800309
|
0.00001
|
NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter)
|
rs1406678014
|
0.00001
|
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met)
|
rs1201878175
|
0.00001
|
NM_024649.5(BBS1):c.118del (p.Cys40fs)
|
rs1490351829
|
0.00001
|
NM_153717.3(EVC):c.1777-1G>A
|
rs1262933856
|
0.00001
|
NM_153717.3(EVC):c.873dup (p.Glu292Ter)
|
rs527255616
|
0.00001
|
NC_000004.12:g.(99601399_99613000)del
|
|
|
NC_000020.11:g.25387767_25393170del
|
|
|
NM_000092.5(COL4A4):c.4079C>T (p.Pro1360Leu)
|
|
|
NM_000271.5(NPC1):c.3662del (p.Phe1221fs)
|
rs786200878
|
|
NM_000277.3(PAH):c.1055del (p.Gly352fs)
|
rs62516094
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000302.4(PLOD1):c.1097+1G>A
|
rs1389548210
|
|
NM_000334.4(SCN4A):c.2903C>A (p.Ala968Asp)
|
rs757322725
|
|
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs)
|
rs1392196900
|
|
NM_000426.4(LAMA2):c.872del (p.Gly291fs)
|
rs1222620175
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.1585-11869_1585-11865del
|
|
|
NM_000492.4(CFTR):c.273+7334T>C
|
|
|
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
|
|
|
NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)
|
|
|
NM_001042545.2(LTBP4):c.3298C>T (p.Arg1100Ter)
|
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
NM_001099287.2(NIPAL4):c.859G>C (p.Asp287His)
|
rs2113670374
|
|
NM_001127453.2(GSDME):c.868del (p.Leu290fs)
|
|
|
NM_001127649.3(PEX26):c.119A>G (p.Glu40Gly)
|
|
|
NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met)
|
rs962267153
|
|
NM_001242882.2(NAXD):c.715C>T (p.Gln239Ter)
|
rs1331075407
|
|
NM_001267550.2(TTN):c.33694A>G (p.Lys11232Glu)
|
|
|
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs)
|
rs752101551
|
|
NM_001267550.2(TTN):c.52619A>G (p.Tyr17540Cys)
|
|
|
NM_001267550.2(TTN):c.69331A>G (p.Ile23111Val)
|
rs1398776954
|
|
NM_001267550.2(TTN):c.92755C>T (p.Arg30919Trp)
|
|
|
NM_001287.6(CLCN7):c.608G>A (p.Gly203Asp)
|
|
|
NM_001366722.1(GRIP1):c.1115A>G (p.Asn372Ser)
|
rs777164145
|
|
NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu)
|
rs281165933
|
|
NM_001367624.2(ZNF469):c.5789A>G (p.Gln1930Arg)
|
rs2142308428
|
|
NM_001378183.1(PIEZO2):c.64+1G>A
|
rs2040867555
|
|
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs)
|
rs1218465638
|
|
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)
|
rs281875328
|
|
NM_001983.4(ERCC1):c.231del (p.Thr78fs)
|
rs2123520960
|
|
NM_002335.4(LRP5):c.787T>C (p.Cys263Arg)
|
rs2153139472
|
|
NM_002473.6(MYH9):c.3677G>C (p.Arg1226Pro)
|
rs200697030
|
|
NM_002485.5(NBN):c.2009G>A (p.Arg670Lys)
|
rs1554556522
|
|
NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter)
|
rs2045882525
|
|
NM_003047.5(SLC9A1):c.2031G>A (p.Glu677=)
|
rs2083146343
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003801.4(GPAA1):c.499G>C (p.Ala167Pro)
|
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004539.4(NARS1):c.889A>C (p.Thr297Pro)
|
|
|
NM_004560.4(ROR2):c.2014G>T (p.Asp672Tyr)
|
rs55651110
|
|
NM_005199.5(CHRNG):c.350+4A>G
|
|
|
NM_005883.3(APC2):c.2595C>A (p.His865Gln)
|
rs2145233148
|
|
NM_005982.4(SIX1):c.84G>C (p.Glu28Asp)
|
|
|
NM_006267.5(RANBP2):c.2415A>C (p.Glu805Asp)
|
rs1022223760
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)
|
rs80358260
|
|
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter)
|
rs924297783
|
|
NM_006892.4(DNMT3B):c.2262_2267del (p.Glu755_Leu756del)
|
|
|
NM_006892.4(DNMT3B):c.2467C>G (p.Arg823Gly)
|
rs2146098171
|
|
NM_012210.4(TRIM32):c.865_866insG (p.Leu289fs)
|
|
|
NM_012414.4(RAB3GAP2):c.1040+1G>T
|
|
|
NM_012448.4(STAT5B):c.424_427del (p.Leu142fs)
|
rs2144267361
|
|
NM_012448.4(STAT5B):c.90G>A (p.Val30=)
|
rs2144296728
|
|
NM_014396.4(VPS41):c.1999C>T (p.Arg667Ter)
|
|
|
NM_014865.4(NCAPD2):c.3054_3057del (p.Leu1019fs)
|
|
|
NM_015046.7(SETX):c.5890C>T (p.Pro1964Ser)
|
rs1403263153
|
|
NM_015311.3(OBSL1):c.35dup (p.Cys13fs)
|
rs752401295
|
|
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)
|
rs749521854
|
|
NM_015981.4(CAMK2A):c.816G>A (p.Ser272=)
|
rs2150279471
|
|
NM_016038.4(SBDS):c.478C>T (p.Gln160Ter)
|
|
|
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)
|
|
|
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)
|
rs904520404
|
|
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter)
|
rs531916765
|
|
NM_017825.3(ADPRS):c.466C>T (p.Arg156Trp)
|
rs866152144
|
|
NM_018136.5(ASPM):c.1199del (p.Asn400fs)
|
|
|
NM_018136.5(ASPM):c.7748_7749del (p.Ile2583fs)
|
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018249.6(CDK5RAP2):c.1654_1655delinsTT (p.Glu552Leu)
|
rs2131564281
|
|
NM_018972.4(GDAP1):c.931G>A (p.Val311Met)
|
rs1586807556
|
|
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)
|
rs2136431608
|
|
NM_020661.4(AICDA):c.45C>G (p.Phe15Leu)
|
rs2136433359
|
|
NM_020964.3(EPG5):c.3533A>G (p.Gln1178Arg)
|
|
|
NM_022124.6(CDH23):c.3579+2T>C
|
rs1385831846
|
|
NM_022124.6(CDH23):c.7712T>C (p.Leu2571Pro)
|
|
|
NM_022168.4(IFIH1):c.742T>C (p.Ser248Pro)
|
rs1392840230
|
|
NM_024596.5(MCPH1):c.2214+1G>A
|
|
|
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter)
|
rs1434577015
|
|
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)
|
rs786204671
|
|
NM_024685.4(BBS10):c.923T>C (p.Leu308Ser)
|
|
|
NM_030928.4(CDT1):c.652A>T (p.Lys218Ter)
|
|
|
NM_031885.5(BBS2):c.1544del (p.Gly515fs)
|
rs2144134987
|
|
NM_031942.5(CDCA7):c.1314_1319del (p.Tyr438_Lys440delinsTer)
|
|
|
NM_032856.5(WDR73):c.710dup (p.Gly238fs)
|
rs1282630153
|
|
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)
|
rs777034646
|
|
NM_033629.6(TREX1):c.592G>A (p.Glu198Lys)
|
rs1416519719
|
|
NM_130837.3(OPA1):c.2885_2983+8del
|
|
|
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)
|
rs146649803
|
|
NM_144498.4(OSBPL2):c.158_159del (p.Gln53fs)
|
rs1981200603
|
|
NM_148919.4(PSMB8):c.625G>C (p.Gly209Arg)
|
rs1202502842
|
|
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs)
|
rs2122235362
|
|
NM_206933.4(USH2A):c.10265G>A (p.Ser3422Asn)
|
rs773660267
|
|
NM_206933.4(USH2A):c.11450C>T (p.Thr3817Ile)
|
|
|
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter)
|
rs2102554503
|
|
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter)
|
rs754889480
|
|