NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)
|
rs147149459
|
0.00105
|
NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
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_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)
|
rs6068812
|
0.00084
|
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)
|
rs114368325
|
0.00079
|
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)
|
rs199422217
|
0.00077
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)
|
rs17847577
|
0.00033
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_006118.4(HAX1):c.91del (p.Glu31fs)
|
rs764082747
|
0.00026
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_006019.4(TCIRG1):c.1674-1G>A
|
rs139617644
|
0.00019
|
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter)
|
rs141458677
|
0.00019
|
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)
|
rs397515338
|
0.00019
|
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)
|
rs144948296
|
0.00018
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)
|
rs143141689
|
0.00016
|
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)
|
rs137852994
|
0.00015
|
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)
|
rs62516092
|
0.00014
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)
|
rs62644499
|
0.00011
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)
|
rs543206298
|
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_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)
|
rs373525781
|
0.00009
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)
|
rs76687508
|
0.00009
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)
|
rs118203957
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter)
|
rs752492870
|
0.00007
|
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)
|
rs180819807
|
0.00007
|
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)
|
rs76394784
|
0.00007
|
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)
|
rs121918548
|
0.00007
|
NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs)
|
rs747831095
|
0.00007
|
NM_000057.4(BLM):c.3558+1G>T
|
rs148969222
|
0.00006
|
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_000277.3(PAH):c.1162G>A (p.Val388Met)
|
rs62516101
|
0.00005
|
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)
|
rs398124502
|
0.00005
|
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter)
|
rs80356595
|
0.00005
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000232.5(SGCB):c.1_2del (p.Met1fs)
|
rs886042503
|
0.00004
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
0.00004
|
NM_000277.3(PAH):c.331C>T (p.Arg111Ter)
|
rs76296470
|
0.00004
|
NM_000277.3(PAH):c.472C>T (p.Arg158Trp)
|
rs75166491
|
0.00004
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)
|
rs62514957
|
0.00004
|
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)
|
rs587777138
|
0.00004
|
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)
|
rs375113643
|
0.00004
|
NM_006019.4(TCIRG1):c.2236+1G>A
|
rs1475338876
|
0.00004
|
NM_006846.4(SPINK5):c.891C>T (p.Cys297=)
|
rs752941297
|
0.00004
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
NM_021942.6(TRAPPC11):c.2579del (p.Leu860fs)
|
rs1216637259
|
0.00004
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)
|
rs80356605
|
0.00004
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
NM_000277.3(PAH):c.311C>A (p.Ala104Asp)
|
rs62642929
|
0.00003
|
NM_000277.3(PAH):c.60+5G>T
|
rs62514895
|
0.00003
|
NM_000277.3(PAH):c.745C>T (p.Leu249Phe)
|
rs74503222
|
0.00003
|
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)
|
rs72547562
|
0.00003
|
NM_000784.4(CYP27A1):c.1263+1G>A
|
rs397515355
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs)
|
rs775267638
|
0.00003
|
NM_006019.4(TCIRG1):c.1554+2T>A
|
rs761918801
|
0.00003
|
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)
|
rs267606821
|
0.00003
|
NM_015665.6(AAAS):c.1331+1G>A
|
rs150511103
|
0.00003
|
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)
|
rs121918549
|
0.00003
|
NM_138694.4(PKHD1):c.10637del (p.Val3546fs)
|
rs770461067
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)
|
rs367543028
|
0.00002
|
NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu)
|
rs137852614
|
0.00002
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00002
|
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)
|
rs753768576
|
0.00002
|
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)
|
rs539743701
|
0.00002
|
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
|
rs121913552
|
0.00002
|
NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter)
|
rs988715134
|
0.00002
|
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)
|
rs747993448
|
0.00002
|
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)
|
rs200495564
|
0.00002
|
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)
|
rs587782885
|
0.00002
|
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)
|
rs786203115
|
0.00002
|
NM_001205254.2(OCLN):c.106C>T (p.Arg36Ter)
|
rs373915080
|
0.00002
|
NM_001384474.1(LOXHD1):c.4212+1G>A
|
rs889110926
|
0.00002
|
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter)
|
rs104893668
|
0.00002
|
NM_006019.4(TCIRG1):c.117+1G>A
|
rs377303800
|
0.00002
|
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)
|
rs397509363
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter)
|
rs587783227
|
0.00002
|
NM_024685.4(BBS10):c.687del (p.Val230fs)
|
rs761101213
|
0.00002
|
NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter)
|
rs186964660
|
0.00002
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)
|
rs387907298
|
0.00001
|
NM_000023.4(SGCA):c.585-1G>A
|
rs1342189589
|
0.00001
|
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)
|
rs754203833
|
0.00001
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_000231.3(SGCG):c.579-2A>G
|
rs754415994
|
0.00001
|
NM_000231.3(SGCG):c.87dup (p.Gly30fs)
|
rs762777463
|
0.00001
|
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
|
rs28936383
|
0.00001
|
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)
|
rs751427686
|
0.00001
|
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)
|
rs120074135
|
0.00001
|
NM_000277.3(PAH):c.169-2A>G
|
rs1226613045
|
0.00001
|
NM_000277.3(PAH):c.441+1G>A
|
rs62517166
|
0.00001
|
NM_000277.3(PAH):c.441+5G>T
|
rs62507321
|
0.00001
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)
|
rs62508588
|
0.00001
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
0.00001
|
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)
|
rs78655458
|
0.00001
|
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)
|
rs62642936
|
0.00001
|
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)
|
rs104894275
|
0.00001
|
NM_000317.3(PTS):c.200C>T (p.Thr67Met)
|
rs370340361
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
NM_001042472.3(ABHD12):c.867+2C>T
|
rs1437849678
|
0.00001
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
NM_001048174.2(MUTYH):c.1103-2A>G
|
rs587781628
|
0.00001
|
NM_001048174.2(MUTYH):c.694C>T (p.Gln232Ter)
|
rs773087549
|
0.00001
|
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)
|
rs751734985
|
0.00001
|
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter)
|
rs774628957
|
0.00001
|
NM_001292063.2(OTOG):c.6721del (p.Asp2241fs)
|
rs1478013002
|
0.00001
|
NM_001378609.3(OTOGL):c.2391-2A>G
|
rs374272301
|
0.00001
|
NM_001692.4(ATP6V1B1):c.1248+1G>C
|
rs1553420702
|
0.00001
|
NM_001983.4(ERCC1):c.121C>T (p.Arg41Ter)
|
rs867518898
|
0.00001
|
NM_003573.2(LTBP4):c.76-1G>A
|
rs781735457
|
0.00001
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)
|
rs121918547
|
0.00001
|
NM_015702.3(MMADHC):c.154+1G>A
|
rs1385597423
|
0.00001
|
NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter)
|
rs768257384
|
0.00001
|
NM_016239.4(MYO15A):c.9400C>T (p.Arg3134Ter)
|
rs1330631412
|
0.00001
|
NM_018131.5(CEP55):c.1274C>A (p.Ser425Ter)
|
rs201430235
|
0.00001
|
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter)
|
rs751326753
|
0.00001
|
NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter)
|
rs761554022
|
0.00001
|
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter)
|
rs587777626
|
0.00001
|
NM_025074.7(FRAS1):c.6805C>T (p.Arg2269Ter)
|
rs1460031293
|
0.00001
|
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)
|
rs727504089
|
0.00001
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)
|
rs137852947
|
0.00001
|
NM_138694.4(PKHD1):c.8554+1G>A
|
rs1790925351
|
0.00001
|
NM_174916.3(UBR1):c.4524T>A (p.Tyr1508Ter)
|
rs374049779
|
0.00001
|
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs)
|
rs1565297723
|
|
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)
|
rs541517496
|
|
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter)
|
rs766400853
|
|
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)
|
rs1555568518
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)
|
rs886043221
|
|
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)
|
rs1057517377
|
|
NM_000023.4(SGCA):c.904del (p.Leu302fs)
|
rs2144501172
|
|
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)
|
rs903823830
|
|
NM_000057.4(BLM):c.1341del (p.Asn448fs)
|
rs2151158046
|
|
NM_000057.4(BLM):c.1624del (p.Asp542fs)
|
rs747498968
|
|
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs)
|
rs762804291
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
NM_000057.4(BLM):c.397dup (p.Asp133fs)
|
rs2151147279
|
|
NM_000057.4(BLM):c.608_609del (p.Thr203fs)
|
rs1170049553
|
|
NM_000057.4(BLM):c.800-2A>G
|
rs1895690125
|
|
NM_000057.4(BLM):c.83C>G (p.Ser28Ter)
|
rs2151145090
|
|
NM_000231.3(SGCG):c.177dup (p.Val60fs)
|
rs2137501584
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.205G>C (p.Gly69Arg)
|
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000231.3(SGCG):c.526G>T (p.Glu176Ter)
|
rs768134426
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
|
|
|
NM_000232.5(SGCB):c.102del (p.Glu35fs)
|
rs2109376007
|
|
NM_000232.5(SGCB):c.253_254del (p.Val85fs)
|
rs1553940274
|
|
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu)
|
rs104893869
|
|
NM_000232.5(SGCB):c.34-1G>A
|
rs1484409119
|
|
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer)
|
rs1578126090
|
|
NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)
|
|
|
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer)
|
rs751427729
|
|
NM_000232.5(SGCB):c.650del (p.Asn217fs)
|
rs1553940079
|
|
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)
|
rs771814273
|
|
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs)
|
rs1572278166
|
|
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)
|
rs80358254
|
|
NM_000271.5(NPC1):c.352_353del (p.Gln119fs)
|
rs759075595
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.168_168+1delinsAA
|
rs786204457
|
|
NM_000277.3(PAH):c.208_210del (p.Ser70del)
|
rs62642094
|
|
NM_000277.3(PAH):c.509+1G>A
|
rs63102461
|
|
NM_000277.3(PAH):c.510T>G (p.His170Gln)
|
rs199475652
|
|
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)
|
rs74486803
|
|
NM_000277.3(PAH):c.671T>C (p.Ile224Thr)
|
rs62507323
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
|
|
|
NM_000382.3(ALDH3A2):c.1187_1188del (p.Ser396fs)
|
|
|
NM_000382.3(ALDH3A2):c.639_640del (p.Cys214fs)
|
|
|
NM_000553.6(WRN):c.1165del (p.Arg389fs)
|
rs878854131
|
|
NM_000553.6(WRN):c.3244_3245del (p.Val1082fs)
|
rs770947623
|
|
NM_000553.6(WRN):c.3688-2A>G
|
rs2130469632
|
|
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del)
|
rs777676129
|
|
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs)
|
rs1163340926
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)
|
rs745340459
|
|
NM_001034852.3(SMOC1):c.482C>A (p.Ser161Ter)
|
rs1344296865
|
|
NM_001042472.3(ABHD12):c.1015C>T (p.Gln339Ter)
|
rs868586681
|
|
NM_001044385.3(TMEM237):c.62del (p.Pro21fs)
|
rs1574587553
|
|
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.225G>A (p.Trp75Ter)
|
rs748170941
|
|
NM_001048174.2(MUTYH):c.305-1G>A
|
rs372267274
|
|
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp)
|
rs876660190
|
|
NM_001080510.5(METTL23):c.169_172del (p.His57fs)
|
rs587777644
|
|
NM_001083961.2(WDR62):c.1234-1G>A
|
rs2145706114
|
|
NM_001083961.2(WDR62):c.198_201dup (p.Ile68fs)
|
rs2145516989
|
|
NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs)
|
rs764201220
|
|
NM_001127453.2(GSDME):c.991-21TTC[2]
|
rs727505273
|
|
NM_001127671.2(LIFR):c.1469C>G (p.Ser490Ter)
|
rs2112457636
|
|
NM_001127671.2(LIFR):c.2034del (p.Ser679fs)
|
|
|
NM_001127671.2(LIFR):c.2472_2476del (p.Ser824fs)
|
|
|
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs)
|
rs387906221
|
|
NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter)
|
rs2128081591
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer)
|
rs2128071123
|
|
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs)
|
rs1463748841
|
|
NM_001161403.3(LIMS2):c.661-2A>C
|
rs766965539
|
|
NM_001199799.2(ILDR1):c.1180del (p.Glu394fs)
|
|
|
NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter)
|
rs387907017
|
|
NM_001205254.2(OCLN):c.513C>A (p.Tyr171Ter)
|
rs1390469424
|
|
NM_001292063.2(OTOG):c.1410_1411del (p.Tyr471fs)
|
rs2134009776
|
|
NM_001292063.2(OTOG):c.2119dup (p.Glu707fs)
|
rs778222536
|
|
NM_001292063.2(OTOG):c.4309C>T (p.Gln1437Ter)
|
rs1853463147
|
|
NM_001292063.2(OTOG):c.4380del (p.Thr1461fs)
|
rs2134088808
|
|
NM_001292063.2(OTOG):c.6068del (p.Gly2023fs)
|
rs1416960576
|
|
NM_001378454.1(ALMS1):c.10766del (p.Glu3589fs)
|
rs2104105065
|
|
NM_001378454.1(ALMS1):c.11871_11872del (p.Gly3958fs)
|
rs2104194220
|
|
NM_001378454.1(ALMS1):c.4138_4141del (p.Ser1380fs)
|
|
|
NM_001378454.1(ALMS1):c.9245del (p.Glu3082fs)
|
|
|
NM_001378609.3(OTOGL):c.6064G>T (p.Glu2022Ter)
|
rs2138034575
|
|
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter)
|
rs1821344202
|
|
NM_001382391.1(CSPP1):c.2538+1G>T
|
rs2129560295
|
|
NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter)
|
rs777587826
|
|
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)
|
rs1555683951
|
|
NM_001386140.1(MTTP):c.501+1G>A
|
rs2110217173
|
|
NM_001386140.1(MTTP):c.730C>T (p.Gln244Ter)
|
|
|
NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs)
|
rs797044907
|
|
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg)
|
rs781838938
|
|
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs)
|
rs781969081
|
|
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)
|
rs121964880
|
|
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs)
|
rs1679840658
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003292.3(TPR):c.*1130G>C
|
rs1657377652
|
|
NM_004153.4(ORC1):c.403-2A>C
|
rs2147941262
|
|
NM_005807.6(PRG4):c.1935del (p.Glu646fs)
|
rs2102025845
|
|
NM_005807.6(PRG4):c.3486dup (p.Val1163fs)
|
rs2102031816
|
|
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs)
|
rs1575201712
|
|
NM_006118.4(HAX1):c.125dup (p.Ser43fs)
|
rs745666437
|
|
NM_006118.4(HAX1):c.430dup (p.Val144fs)
|
rs770288337
|
|
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)
|
rs80358266
|
|
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)
|
rs80358260
|
|
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn)
|
rs879255237
|
|
NM_014028.4(OSTM1):c.415_416del (p.Gln140fs)
|
rs794727287
|
|
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs)
|
rs1259615333
|
|
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter)
|
rs1246013998
|
|
NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs)
|
rs2137615500
|
|
NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter)
|
rs1555251553
|
|
NM_015294.6(TRIM37):c.447del (p.Lys149fs)
|
rs1197523487
|
|
NM_015311.3(OBSL1):c.1359dup (p.Glu454fs)
|
|
|
NM_015665.6(AAAS):c.852G>A (p.Trp284Ter)
|
rs1944347921
|
|
NM_016042.4(EXOSC3):c.382dup (p.Ile128fs)
|
rs2118980242
|
|
NM_016239.4(MYO15A):c.373_374del (p.Arg125fs)
|
rs878853239
|
|
NM_016239.4(MYO15A):c.5001del (p.Gln1669fs)
|
rs2142326062
|
|
NM_016529.6(ATP8A2):c.2212-1G>C
|
rs2137911082
|
|
NM_016614.3(TDP2):c.650del (p.Gly217fs)
|
rs1778000792
|
|
NM_017433.5(MYO3A):c.4587-1G>A
|
rs1311980539
|
|
NM_017721.5(CC2D1A):c.1764+1G>C
|
rs2145350143
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter)
|
rs145489194
|
|
NM_018136.5(ASPM):c.2581dup (p.Ile861fs)
|
rs2125107857
|
|
NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter)
|
rs199422153
|
|
NM_018136.5(ASPM):c.434del (p.Lys145fs)
|
rs2125114846
|
|
NM_018136.5(ASPM):c.4451_4455del (p.Tyr1484fs)
|
rs2125096622
|
|
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs)
|
rs886041282
|
|
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs)
|
rs587783263
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs)
|
|
|
NM_018136.5(ASPM):c.9747_9748del (p.Tyr3250fs)
|
rs199422196
|
|
NM_018136.5(ASPM):c.9874C>T (p.Gln3292Ter)
|
rs2125087894
|
|
NM_018249.6(CDK5RAP2):c.3545_3546del (p.His1182fs)
|
rs2131327802
|
|
NM_018249.6(CDK5RAP2):c.355G>T (p.Glu119Ter)
|
rs376990082
|
|
NM_018294.6(CWF19L1):c.520A>T (p.Lys174Ter)
|
rs2134307362
|
|
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del)
|
rs587777655
|
|
NM_020247.5(COQ8A):c.1334_1335del (p.Thr445fs)
|
rs797045217
|
|
NM_020632.3(ATP6V0A4):c.1872C>A (p.Tyr624Ter)
|
rs1464966535
|
|
NM_020632.3(ATP6V0A4):c.292-1G>A
|
rs776867749
|
|
NM_020680.4(SCYL1):c.1386+1G>T
|
rs201581270
|
|
NM_021628.3(ALOXE3):c.1432del (p.Ser478fs)
|
rs2151838171
|
|
NM_021828.5(HPSE2):c.902T>A (p.Leu301Ter)
|
rs2134250333
|
|
NM_021942.6(TRAPPC11):c.1893+3A>G
|
rs886041053
|
|
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)
|
|
|
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
|
|
|
NM_024596.5(MCPH1):c.566dup (p.Asn189fs)
|
rs753597039
|
|
NM_024649.5(BBS1):c.47+1G>T
|
rs1475257145
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_025074.7(FRAS1):c.2692del (p.His898fs)
|
rs2110296712
|
|
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs)
|
rs730882179
|
|
NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs)
|
rs2139308896
|
|
NM_031466.8(TRAPPC9):c.-124dup
|
rs765943218
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_032856.5(WDR73):c.888del (p.Phe296fs)
|
rs869320712
|
|
NM_033028.5(BBS4):c.1248+1G>T
|
rs1419924139
|
|
NM_033028.5(BBS4):c.1311_1312insT (p.Lys438Ter)
|
|
|
NM_033028.5(BBS4):c.157-2A>G
|
rs113994192
|
|
NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs)
|
rs1299632365
|
|
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)
|
rs755183117
|
|
NM_138694.4(PKHD1):c.3561-1G>A
|
rs1802457333
|
|
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)
|
rs398124486
|
|
NM_138694.4(PKHD1):c.470dup (p.Trp158fs)
|
rs2128233941
|
|
NM_138694.4(PKHD1):c.4993C>T (p.Gln1665Ter)
|
rs2128141956
|
|
NM_138694.4(PKHD1):c.8069G>A (p.Trp2690Ter)
|
rs768660365
|
|
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs)
|
rs2151512076
|
|
NM_144772.3(NAXE):c.326dup (p.Thr110fs)
|
rs779820587
|
|
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter)
|
rs1574339529
|
|
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)
|
rs587777803
|
|
NM_152618.3(BBS12):c.683del (p.Gln228fs)
|
rs2150736424
|
|
NM_152618.3(BBS12):c.695_731del (p.Ile232fs)
|
|
|
NM_153700.2(STRC):c.3958G>T (p.Glu1320Ter)
|
rs1410072763
|
|
NM_173477.5(USH1G):c.711del (p.Arg238fs)
|
rs2144754031
|
|
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
|
rs760165634
|
|
NM_177400.3(NKX6-2):c.119del (p.Phe40fs)
|
rs2134707158
|
|
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter)
|
rs1131692047
|
|
NM_194248.3(OTOF):c.1962del (p.Arg656fs)
|
|
|
NM_203486.3(DLL3):c.395del (p.Gly132fs)
|
rs761454301
|
|
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs)
|
rs786200899
|
|