NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_022168.4(IFIH1):c.2807+1G>A
|
rs35732034
|
0.00502
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_000492.4(CFTR):c.4242+13A>G
|
rs76179227
|
0.00295
|
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile)
|
rs72650663
|
0.00253
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)
|
rs146384562
|
0.00124
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)
|
rs120074160
|
0.00099
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_031471.6(FERMT3):c.332G>A (p.Arg111His)
|
rs145419469
|
0.00068
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_006118.4(HAX1):c.15T>A (p.Asp5Glu)
|
rs201078819
|
0.00021
|
NM_007259.5(VPS45):c.1701G>A (p.Ala567=)
|
rs377365764
|
0.00016
|
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)
|
rs200557537
|
0.00014
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)
|
rs62508646
|
0.00008
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_032119.4(ADGRV1):c.13340G>A (p.Gly4447Asp)
|
rs532839486
|
0.00005
|
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)
|
rs61749668
|
0.00004
|
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter)
|
rs199422185
|
0.00004
|
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)
|
rs200116631
|
0.00003
|
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter)
|
rs782539587
|
0.00002
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)
|
rs747076316
|
0.00002
|
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)
|
rs372632599
|
0.00002
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
0.00002
|
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)
|
rs104894280
|
0.00001
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
NM_018075.5(ANO10):c.1219-1G>T
|
rs1318561721
|
0.00001
|
NM_020247.5(COQ8A):c.588+1G>C
|
rs1474965033
|
0.00001
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter)
|
rs1553299079
|
0.00001
|
NM_000091.5(COL4A3):c.1788_1823del (p.Pro598_Pro609del)
|
|
|
NM_000277.3(PAH):c.60+2del
|
|
|
NM_000317.3(PTS):c.351C>A (p.Asn117Lys)
|
rs2135410460
|
|
NM_000329.3(RPE65):c.1067del (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)
|
|
|
NM_000329.3(RPE65):c.1333G>C (p.Asp445His)
|
|
|
NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)
|
|
|
NM_000372.5(TYR):c.1493del (p.Leu498fs)
|
rs763648121
|
|
NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter)
|
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.3802C>G (p.Gln1268Glu)
|
|
|
NM_000492.4(CFTR):c.4354C>T (p.His1452Tyr)
|
|
|
NM_001048174.2(MUTYH):c.226T>G (p.Tyr76Asp)
|
rs1060501344
|
|
NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro)
|
rs2152742282
|
|
NM_001130987.2(DYSF):c.5547-2A>G
|
rs1238293747
|
|
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
|
|
|
NM_001256317.3(TMPRSS3):c.323-6G>A
|
rs374793617
|
|
NM_001283009.2(RTEL1):c.106G>A (p.Val36Met)
|
|
|
NM_002226.5(JAG2):c.2308G>A (p.Gly770Arg)
|
|
|
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)
|
rs80338829
|
|
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)
|
rs80338831
|
|
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)
|
rs80338834
|
|
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)
|
rs121918049
|
|
NM_003104.6(SORD):c.553G>A (p.Gly185Arg)
|
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)
|
rs779647632
|
|
NM_006005.3(WFS1):c.1636G>A (p.Val546Ile)
|
|
|
NM_006618.5(KDM5B):c.293G>C (p.Arg98Pro)
|
rs748231291
|
|
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)
|
|
|
NM_006846.4(SPINK5):c.2452G>A (p.Ala818Thr)
|
|
|
NM_006846.4(SPINK5):c.2728A>G (p.Asn910Asp)
|
|
|
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser)
|
rs1557737087
|
|
NM_015378.4(VPS13D):c.5725+2dup
|
|
|
NM_016042.4(EXOSC3):c.202G>T (p.Gly68Cys)
|
rs745785017
|
|
NM_016042.4(EXOSC3):c.251G>T (p.Gly84Val)
|
rs2118981494
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_021954.4(GJA3):c.56C>T (p.Thr19Met)
|
rs1114167307
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
NM_032119.4(ADGRV1):c.10974+1G>A
|
rs1754560628
|
|
NM_032119.4(ADGRV1):c.18082C>T (p.Leu6028Phe)
|
|
|
NM_032119.4(ADGRV1):c.3901G>T (p.Asp1301Tyr)
|
rs2149466957
|
|
NM_032492.4(JAGN1):c.*9T>C
|
rs11554811
|
|
NM_032856.5(WDR73):c.6_9del (p.Asp2fs)
|
|
|
NM_138694.4(PKHD1):c.10180T>G (p.Cys3394Gly)
|
|
|
NM_138694.4(PKHD1):c.3170G>A (p.Cys1057Tyr)
|
|
|
NM_138694.4(PKHD1):c.6818C>T (p.Thr2273Met)
|
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.387+1G>A
|
|
|
NM_177398.4(LMX1A):c.317T>G (p.Phe106Cys)
|
|
|
NM_182961.4(SYNE1):c.16849C>T (p.Arg5617Ter)
|
rs758379604
|
|
NM_182961.4(SYNE1):c.19450C>T (p.Gln6484Ter)
|
rs2090447154
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val)
|
rs1553257673
|
|
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter)
|
rs2102451648
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|