NM_001034853.2(RPGR):c.2863T>G (p.Trp955Gly)
|
rs765224300
|
0.29559
|
NM_001034853.2(RPGR):c.2801A>G (p.Glu934Gly)
|
rs751314374
|
0.00844
|
NM_019892.6(INPP5E):c.812+4_812+6del
|
rs1405338334
|
0.00309
|
NM_003114.5(SPAG1):c.1307C>T (p.Pro436Leu)
|
rs761617724
|
0.00134
|
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)
|
rs145374149
|
0.00124
|
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)
|
rs117307093
|
0.00123
|
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu)
|
rs375721812
|
0.00118
|
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)
|
rs138744839
|
0.00115
|
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter)
|
rs147398904
|
0.00111
|
NM_015512.5(DNAH1):c.10438A>G (p.Ile3480Val)
|
rs143443167
|
0.00104
|
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)
|
rs142278066
|
0.00102
|
NM_181426.2(CCDC39):c.1665+5A>G
|
rs560658609
|
0.00102
|
NM_018051.5(DYNC2I1):c.176A>G (p.Asp59Gly)
|
rs187908946
|
0.00098
|
NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile)
|
rs199608505
|
0.00096
|
NM_001206927.2(DNAH8):c.7123A>C (p.Asn2375His)
|
rs141532428
|
0.00092
|
NM_017802.4(DNAAF5):c.385G>C (p.Val129Leu)
|
rs1031852692
|
0.00090
|
NM_018076.5(ODAD2):c.1709G>A (p.Arg570Gln)
|
rs140569195
|
0.00088
|
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp)
|
rs143113298
|
0.00086
|
NM_015512.5(DNAH1):c.9814C>T (p.Arg3272Cys)
|
rs200784189
|
0.00085
|
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr)
|
rs145680314
|
0.00085
|
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe)
|
rs150314805
|
0.00084
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_018076.5(ODAD2):c.2935G>A (p.Val979Met)
|
rs150655393
|
0.00083
|
NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu)
|
rs200673226
|
0.00080
|
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)
|
rs184256941
|
0.00078
|
NM_145038.5(DRC1):c.2122A>C (p.Asn708His)
|
rs147970345
|
0.00078
|
NM_015512.5(DNAH1):c.1084C>T (p.Leu362Phe)
|
rs200067536
|
0.00077
|
NM_145038.5(DRC1):c.1750T>A (p.Ser584Thr)
|
rs147712523
|
0.00077
|
NM_015512.5(DNAH1):c.9646C>G (p.Leu3216Val)
|
rs200158571
|
0.00076
|
NM_031924.8(RSPH3):c.-384C>T
|
rs140715430
|
0.00074
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala)
|
rs199605221
|
0.00071
|
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu)
|
rs188817098
|
0.00071
|
NM_001277115.2(DNAH11):c.695C>T (p.Pro232Leu)
|
rs200454446
|
0.00070
|
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg)
|
rs151318349
|
0.00070
|
NM_170784.3(MKKS):c.699C>G (p.Ile233Met)
|
rs770801103
|
0.00070
|
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys)
|
rs201816596
|
0.00068
|
NM_018139.3(DNAAF2):c.731C>A (p.Ala244Glu)
|
rs112700048
|
0.00068
|
NM_001206927.2(DNAH8):c.2096G>A (p.Arg699His)
|
rs141983502
|
0.00067
|
NM_014956.5(CEP164):c.548T>A (p.Met183Lys)
|
rs144206271
|
0.00067
|
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala)
|
rs369227219
|
0.00067
|
NM_001375405.1(CEP120):c.2647C>T (p.Arg883Cys)
|
rs140306974
|
0.00066
|
NM_001364171.2(ODAD1):c.1796T>C (p.Phe599Ser)
|
rs144225230
|
0.00065
|
NM_001206927.2(DNAH8):c.7774C>T (p.Arg2592Trp)
|
rs113332942
|
0.00064
|
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu)
|
rs200266868
|
0.00064
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)
|
rs140698625
|
0.00064
|
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val)
|
rs202130417
|
0.00063
|
NM_033028.5(BBS4):c.514A>G (p.Ile172Val)
|
rs145265395
|
0.00063
|
NM_001378454.1(ALMS1):c.4024G>A (p.Val1342Ile)
|
rs751346260
|
0.00062
|
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)
|
rs151332923
|
0.00061
|
NM_018139.3(DNAAF2):c.982G>A (p.Asp328Asn)
|
rs201566715
|
0.00061
|
NM_015512.5(DNAH1):c.1610G>A (p.Ser537Asn)
|
rs201302159
|
0.00060
|
NM_017802.4(DNAAF5):c.718G>A (p.Gly240Arg)
|
rs142141660
|
0.00060
|
NM_001206927.2(DNAH8):c.8869C>T (p.Arg2957Cys)
|
rs143707632
|
0.00059
|
NM_001375405.1(CEP120):c.1180C>T (p.Pro394Ser)
|
rs200450605
|
0.00059
|
NM_001481.3(GAS8):c.31A>G (p.Lys11Glu)
|
rs146066553
|
0.00059
|
NM_016464.5(TMEM138):c.461G>A (p.Arg154His)
|
rs147966742
|
0.00059
|
NM_021147.5(CCNO):c.685G>A (p.Gly229Ser)
|
rs139980939
|
0.00059
|
NM_001206927.2(DNAH8):c.14059C>T (p.Arg4687Ter)
|
rs146551804
|
0.00058
|
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro)
|
rs202227966
|
0.00058
|
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)
|
rs201673771
|
0.00058
|
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu)
|
rs138434761
|
0.00058
|
NM_031924.8(RSPH3):c.-383T>G
|
rs147256615
|
0.00058
|
NM_033124.5(CCDC65):c.680A>G (p.Gln227Arg)
|
rs149640178
|
0.00058
|
NM_213607.3(CCDC103):c.275C>T (p.Pro92Leu)
|
rs142342712
|
0.00058
|
NM_181426.2(CCDC39):c.900T>A (p.His300Gln)
|
rs201684898
|
0.00057
|
NM_198525.3(KIF7):c.2959G>A (p.Glu987Lys)
|
rs146626238
|
0.00057
|
NM_001199397.3(NEK1):c.214+6A>G
|
rs375956427
|
0.00056
|
NM_001329943.3(KIAA0586):c.4482_4483del (p.Val1496fs)
|
rs777199366
|
0.00056
|
NM_015512.5(DNAH1):c.5740G>A (p.Glu1914Lys)
|
rs199740667
|
0.00056
|
NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His)
|
rs139327086
|
0.00056
|
NM_001206927.2(DNAH8):c.2150C>G (p.Ser717Cys)
|
rs145798237
|
0.00055
|
NM_001256715.2(DNAAF3):c.1626A>G (p.Ter542Trp)
|
rs199882635
|
0.00055
|
NM_001481.3(GAS8):c.789C>A (p.Asp263Glu)
|
rs138733039
|
0.00055
|
NM_147127.5(EVC2):c.2060G>A (p.Arg687His)
|
rs144420242
|
0.00054
|
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys)
|
rs374073337
|
0.00053
|
NM_012472.6(DNAAF11):c.949A>G (p.Ile317Val)
|
rs146067670
|
0.00053
|
NM_016616.5(NME8):c.88A>G (p.Thr30Ala)
|
rs199920317
|
0.00053
|
NM_018076.5(ODAD2):c.2218T>C (p.Trp740Arg)
|
rs148764188
|
0.00053
|
NM_178452.6(DNAAF1):c.1988C>T (p.Pro663Leu)
|
rs147393144
|
0.00053
|
NM_198525.3(KIF7):c.461G>A (p.Arg154Gln)
|
rs180758272
|
0.00053
|
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)
|
rs373811074
|
0.00052
|
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)
|
rs762918371
|
0.00052
|
NM_001206927.2(DNAH8):c.11695C>T (p.Arg3899Trp)
|
rs138030174
|
0.00052
|
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe)
|
rs180861816
|
0.00052
|
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly)
|
rs143210369
|
0.00052
|
NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile)
|
rs118057448
|
0.00051
|
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)
|
rs200467041
|
0.00051
|
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val)
|
rs142518115
|
0.00051
|
NM_025132.4(WDR19):c.490G>A (p.Val164Ile)
|
rs199514431
|
0.00051
|
NM_052844.4(DYNC2I2):c.1499C>T (p.Ala500Val)
|
rs142210358
|
0.00051
|
NM_181426.2(CCDC39):c.1969G>A (p.Glu657Lys)
|
rs200459402
|
0.00051
|
NM_014704.4(CEP104):c.664C>T (p.Arg222Trp)
|
rs142899837
|
0.00050
|
NM_023036.6(DNAI2):c.1533G>T (p.Glu511Asp)
|
rs150710001
|
0.00050
|
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile)
|
rs376795880
|
0.00049
|
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe)
|
rs142038791
|
0.00049
|
NM_080860.4(RSPH1):c.859C>T (p.Arg287Cys)
|
rs143552625
|
0.00049
|
NM_080860.4(RSPH1):c.919C>T (p.Leu307Phe)
|
rs141886699
|
0.00049
|
NM_145038.5(DRC1):c.1840C>G (p.Pro614Ala)
|
rs372284377
|
0.00049
|
NM_001190787.3(MCIDAS):c.1085C>T (p.Ala362Val)
|
rs539275390
|
0.00048
|
NM_001206927.2(DNAH8):c.9427C>T (p.Arg3143Cys)
|
rs151313083
|
0.00048
|
NM_001329943.3(KIAA0586):c.1522A>G (p.Ile508Val)
|
rs61745095
|
0.00048
|
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala)
|
rs200054604
|
0.00048
|
NM_145038.5(DRC1):c.1172C>T (p.Ala391Val)
|
rs148372110
|
0.00048
|
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)
|
rs139278612
|
0.00048
|
NM_001206927.2(DNAH8):c.4375G>A (p.Asp1459Asn)
|
rs151175737
|
0.00047
|
NM_001375405.1(CEP120):c.1119G>C (p.Lys373Asn)
|
rs201571160
|
0.00047
|
NM_014704.4(CEP104):c.1453G>A (p.Val485Ile)
|
rs11800891
|
0.00047
|
NM_015512.5(DNAH1):c.9811A>G (p.Ile3271Val)
|
rs201807250
|
0.00047
|
NM_021147.5(CCNO):c.187T>C (p.Ser63Pro)
|
rs377241996
|
0.00047
|
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu)
|
rs147281546
|
0.00047
|
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)
|
rs201869920
|
0.00046
|
NM_015662.3(IFT172):c.2015G>A (p.Arg672Gln)
|
rs138511988
|
0.00046
|
NM_033124.5(CCDC65):c.1274T>G (p.Leu425Arg)
|
rs150275571
|
0.00046
|
NM_147127.5(EVC2):c.1505T>G (p.Leu502Arg)
|
rs145909403
|
0.00046
|
NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr)
|
rs143250090
|
0.00046
|
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser)
|
rs199917289
|
0.00045
|
NM_014956.5(CEP164):c.2662C>G (p.Leu888Val)
|
rs142044303
|
0.00045
|
NM_018139.3(DNAAF2):c.58G>C (p.Val20Leu)
|
rs572322476
|
0.00045
|
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg)
|
rs201153804
|
0.00045
|
NM_001364171.2(ODAD1):c.566G>A (p.Arg189His)
|
rs569554228
|
0.00044
|
NM_014704.4(CEP104):c.2644G>T (p.Ala882Ser)
|
rs185664269
|
0.00044
|
NM_015512.5(DNAH1):c.10594C>T (p.Arg3532Cys)
|
rs759716748
|
0.00044
|
NM_015512.5(DNAH1):c.2209G>A (p.Val737Met)
|
rs368736791
|
0.00044
|
NM_015512.5(DNAH1):c.9671A>G (p.Asn3224Ser)
|
rs201309675
|
0.00044
|
NM_017802.4(DNAAF5):c.1796G>A (p.Gly599Glu)
|
rs149924115
|
0.00044
|
NM_017950.4(CCDC40):c.552G>A (p.Leu184=)
|
rs141588728
|
0.00044
|
NM_181426.2(CCDC39):c.2795G>A (p.Ser932Asn)
|
rs199649763
|
0.00044
|
NM_001377.3(DYNC2H1):c.9158G>A (p.Arg3053Gln)
|
rs183985095
|
0.00043
|
NM_014714.4(IFT140):c.2067G>A (p.Ala689=)
|
rs143537808
|
0.00043
|
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val)
|
rs199637319
|
0.00043
|
NM_181426.2(CCDC39):c.1971G>T (p.Glu657Asp)
|
rs111451119
|
0.00043
|
NM_198525.3(KIF7):c.1443+5C>T
|
rs778312422
|
0.00043
|
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)
|
rs201614099
|
0.00042
|
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile)
|
rs200529564
|
0.00042
|
NM_003114.5(SPAG1):c.205G>A (p.Ala69Thr)
|
rs149271265
|
0.00042
|
NM_014956.5(CEP164):c.2339C>T (p.Ser780Leu)
|
rs138384561
|
0.00042
|
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val)
|
rs200399046
|
0.00042
|
NM_018051.5(DYNC2I1):c.451C>T (p.Arg151Trp)
|
rs75914977
|
0.00042
|
NM_001206927.2(DNAH8):c.12656G>A (p.Arg4219Gln)
|
rs144808884
|
0.00041
|
NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys)
|
rs551740936
|
0.00041
|
NM_001256715.2(DNAAF3):c.1252G>A (p.Val418Met)
|
rs201231901
|
0.00041
|
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)
|
rs202111717
|
0.00041
|
NM_014704.4(CEP104):c.2621G>A (p.Arg874His)
|
rs139076247
|
0.00041
|
NM_015512.5(DNAH1):c.3202G>A (p.Val1068Met)
|
rs201455697
|
0.00041
|
NM_015512.5(DNAH1):c.7646A>G (p.Asn2549Ser)
|
rs199694029
|
0.00041
|
NM_015512.5(DNAH1):c.9560A>G (p.His3187Arg)
|
rs201903736
|
0.00041
|
NM_018051.5(DYNC2I1):c.2398G>A (p.Ala800Thr)
|
rs115070314
|
0.00041
|
NM_018076.5(ODAD2):c.2272A>G (p.Ile758Val)
|
rs143059966
|
0.00041
|
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn)
|
rs145850728
|
0.00041
|
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr)
|
rs150587582
|
0.00041
|
NM_080860.4(RSPH1):c.916G>C (p.Asp306His)
|
rs1052502852
|
0.00041
|
NM_178452.6(DNAAF1):c.1698+1G>A
|
rs139519641
|
0.00041
|
NM_178452.6(DNAAF1):c.1990A>C (p.Thr664Pro)
|
rs199680570
|
0.00041
|
NM_001174150.2(ARL13B):c.1261A>G (p.Ser421Gly)
|
rs112062713
|
0.00040
|
NM_001174150.2(ARL13B):c.891A>T (p.Gln297His)
|
rs140215698
|
0.00040
|
NM_001206927.2(DNAH8):c.10529A>G (p.Asn3510Ser)
|
rs145843224
|
0.00040
|
NM_014704.4(CEP104):c.2423G>A (p.Gly808Glu)
|
rs148877817
|
0.00040
|
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu)
|
rs149596527
|
0.00040
|
NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg)
|
rs141226759
|
0.00039
|
NM_001206927.2(DNAH8):c.4111G>A (p.Glu1371Lys)
|
rs149020489
|
0.00039
|
NM_001329943.3(KIAA0586):c.4325A>G (p.Tyr1442Cys)
|
rs200127338
|
0.00039
|
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala)
|
rs201804994
|
0.00039
|
NM_012210.4(TRIM32):c.292C>A (p.Leu98Ile)
|
rs201877419
|
0.00039
|
NM_015512.5(DNAH1):c.2542C>T (p.Arg848Cys)
|
rs138422594
|
0.00039
|
NM_017802.4(DNAAF5):c.1208G>A (p.Arg403Gln)
|
rs149778130
|
0.00039
|
NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser)
|
rs878855039
|
0.00039
|
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln)
|
rs150370681
|
0.00039
|
NM_176824.3(BBS7):c.223A>G (p.Ile75Val)
|
rs138872188
|
0.00039
|
NM_001206927.2(DNAH8):c.2804A>G (p.His935Arg)
|
rs150379318
|
0.00038
|
NM_001206927.2(DNAH8):c.911T>C (p.Ile304Thr)
|
rs138258349
|
0.00038
|
NM_001206927.2(DNAH8):c.9739A>G (p.Arg3247Gly)
|
rs146938126
|
0.00038
|
NM_001206927.2(DNAH8):c.991A>G (p.Thr331Ala)
|
rs143492695
|
0.00038
|
NM_001382391.1(CSPP1):c.1556C>T (p.Pro519Leu)
|
rs200535417
|
0.00038
|
NM_003114.5(SPAG1):c.419T>C (p.Val140Ala)
|
rs895776124
|
0.00038
|
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu)
|
rs146474568
|
0.00038
|
NM_017802.4(DNAAF5):c.1063A>G (p.Arg355Gly)
|
rs201998366
|
0.00038
|
NM_017950.4(CCDC40):c.3130T>A (p.Phe1044Ile)
|
rs377222257
|
0.00038
|
NM_018076.5(ODAD2):c.1219G>A (p.Gly407Arg)
|
rs552527338
|
0.00038
|
NM_033124.5(CCDC65):c.803T>C (p.Leu268Pro)
|
rs150949692
|
0.00038
|
NM_001278293.3(ARL6):c.493A>G (p.Ile165Val)
|
rs146978266
|
0.00037
|
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser)
|
rs201971114
|
0.00037
|
NM_003114.5(SPAG1):c.2717A>G (p.Asp906Gly)
|
rs199727770
|
0.00037
|
NM_014704.4(CEP104):c.278G>A (p.Arg93Gln)
|
rs199576006
|
0.00037
|
NM_015512.5(DNAH1):c.3756C>G (p.Ser1252Arg)
|
rs199502930
|
0.00037
|
NM_015512.5(DNAH1):c.5177A>T (p.Glu1726Val)
|
rs192723261
|
0.00037
|
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly)
|
rs568253718
|
0.00036
|
NM_001256715.2(DNAAF3):c.1414G>A (p.Gly472Arg)
|
rs201919395
|
0.00036
|
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val)
|
rs200075429
|
0.00036
|
NM_001382391.1(CSPP1):c.3106A>G (p.Lys1036Glu)
|
rs369060106
|
0.00036
|
NM_012472.6(DNAAF11):c.1096A>G (p.Lys366Glu)
|
rs201309011
|
0.00036
|
NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp)
|
rs184506506
|
0.00036
|
NM_018076.5(ODAD2):c.1277G>A (p.Ser426Asn)
|
rs143513621
|
0.00036
|
NM_145038.5(DRC1):c.1420G>A (p.Ala474Thr)
|
rs145706376
|
0.00036
|
NM_153717.3(EVC):c.1321G>A (p.Val441Ile)
|
rs202150959
|
0.00036
|
NM_170784.3(MKKS):c.1161+3A>G
|
rs192968747
|
0.00036
|
NM_001206927.2(DNAH8):c.6137A>G (p.Tyr2046Cys)
|
rs200037660
|
0.00035
|
NM_015512.5(DNAH1):c.8048G>A (p.Arg2683Gln)
|
rs77451372
|
0.00035
|
NM_147127.5(EVC2):c.2591G>A (p.Arg864Lys)
|
rs369531662
|
0.00035
|
NM_001206927.2(DNAH8):c.11468C>T (p.Ala3823Val)
|
rs185283741
|
0.00034
|
NM_001256715.2(DNAAF3):c.1285C>T (p.Arg429Trp)
|
rs77322382
|
0.00034
|
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly)
|
rs199996939
|
0.00034
|
NM_001481.3(GAS8):c.1378G>C (p.Ala460Pro)
|
rs142296775
|
0.00034
|
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys)
|
rs140820295
|
0.00034
|
NM_015512.5(DNAH1):c.3877G>A (p.Asp1293Asn)
|
rs140883175
|
0.00034
|
NM_017950.4(CCDC40):c.32C>G (p.Ser11Cys)
|
rs111822347
|
0.00034
|
NM_024685.4(BBS10):c.752C>T (p.Ala251Val)
|
rs149760791
|
0.00034
|
NM_198525.3(KIF7):c.3782C>A (p.Thr1261Asn)
|
rs147195322
|
0.00034
|
NM_213607.3(CCDC103):c.104G>A (p.Arg35Gln)
|
rs587783065
|
0.00034
|
NM_001010892.3(RSPH4A):c.1001C>A (p.Thr334Lys)
|
rs149463940
|
0.00033
|
NM_001174150.2(ARL13B):c.1217A>G (p.Tyr406Cys)
|
rs149679906
|
0.00033
|
NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu)
|
rs371668705
|
0.00033
|
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro)
|
rs185469456
|
0.00033
|
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)
|
rs141608712
|
0.00033
|
NM_017802.4(DNAAF5):c.969C>A (p.Asp323Glu)
|
rs201264312
|
0.00033
|
NM_019892.6(INPP5E):c.1360G>A (p.Asp454Asn)
|
rs138150684
|
0.00033
|
NM_001329943.3(KIAA0586):c.1407G>T (p.Gln469His)
|
rs200446131
|
0.00032
|
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile)
|
rs200568988
|
0.00032
|
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile)
|
rs373211307
|
0.00032
|
NM_012472.6(DNAAF11):c.32G>A (p.Arg11Gln)
|
rs149894438
|
0.00032
|
NM_014956.5(CEP164):c.1792G>A (p.Ala598Thr)
|
rs150956860
|
0.00032
|
NM_015512.5(DNAH1):c.3577G>A (p.Ala1193Thr)
|
rs376032415
|
0.00032
|
NM_016616.5(NME8):c.343G>A (p.Asp115Asn)
|
rs143447596
|
0.00032
|
NM_017802.4(DNAAF5):c.221C>A (p.Ala74Glu)
|
rs756968294
|
0.00032
|
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)
|
rs192259143
|
0.00032
|
NM_178452.6(DNAAF1):c.1187G>T (p.Gly396Val)
|
rs149958269
|
0.00032
|
NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser)
|
rs201586263
|
0.00032
|
NM_001174150.2(ARL13B):c.106G>A (p.Ala36Thr)
|
rs139780924
|
0.00031
|
NM_001206927.2(DNAH8):c.644G>A (p.Gly215Glu)
|
rs200815756
|
0.00031
|
NM_001206927.2(DNAH8):c.6694G>A (p.Val2232Ile)
|
rs141684275
|
0.00031
|
NM_015512.5(DNAH1):c.2576A>G (p.Asn859Ser)
|
rs200428788
|
0.00031
|
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu)
|
rs151203205
|
0.00031
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
NM_052844.4(DYNC2I2):c.1117C>T (p.Arg373Trp)
|
rs146903531
|
0.00031
|
NM_080860.4(RSPH1):c.727A>G (p.Ser243Gly)
|
rs137935071
|
0.00031
|
NM_198428.3(BBS9):c.2294A>G (p.Glu765Gly)
|
rs140882212
|
0.00031
|
NM_001206927.2(DNAH8):c.13607T>C (p.Leu4536Pro)
|
rs138278528
|
0.00030
|
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)
|
rs147366111
|
0.00030
|
NM_015512.5(DNAH1):c.11249A>G (p.Asn3750Ser)
|
rs114272520
|
0.00030
|
NM_015512.5(DNAH1):c.7865G>A (p.Arg2622Gln)
|
rs200587980
|
0.00030
|
NM_015662.3(IFT172):c.1523G>A (p.Arg508His)
|
rs144868723
|
0.00030
|
NM_017950.4(CCDC40):c.1138G>A (p.Ala380Thr)
|
rs199564182
|
0.00030
|
NM_017950.4(CCDC40):c.1445G>A (p.Cys482Tyr)
|
rs367601192
|
0.00030
|
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys)
|
rs199783864
|
0.00030
|
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr)
|
rs148808295
|
0.00030
|
NM_033124.5(CCDC65):c.548T>C (p.Ile183Thr)
|
rs151189508
|
0.00030
|
NM_198525.3(KIF7):c.2990C>A (p.Ala997Asp)
|
rs146841447
|
0.00030
|
NM_001329943.3(KIAA0586):c.2503C>G (p.Leu835Val)
|
rs113040775
|
0.00029
|
NM_001329943.3(KIAA0586):c.3407T>C (p.Ile1136Thr)
|
rs200148591
|
0.00029
|
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val)
|
rs201860217
|
0.00029
|
NM_001377.3(DYNC2H1):c.9123A>C (p.Arg3041Ser)
|
rs369837389
|
0.00029
|
NM_006642.5(SDCCAG8):c.1276A>G (p.Thr426Ala)
|
rs201580075
|
0.00029
|
NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile)
|
rs6672843
|
0.00029
|
NM_014704.4(CEP104):c.2282G>A (p.Ser761Asn)
|
rs537512159
|
0.00029
|
NM_015512.5(DNAH1):c.11360G>A (p.Arg3787His)
|
rs370624357
|
0.00029
|
NM_015512.5(DNAH1):c.2489A>C (p.Asp830Ala)
|
rs376327672
|
0.00029
|
NM_015662.3(IFT172):c.1426G>A (p.Gly476Ser)
|
rs147303046
|
0.00029
|
NM_015910.7(WDPCP):c.1729T>G (p.Phe577Val)
|
rs141845729
|
0.00029
|
NM_016616.5(NME8):c.1169G>C (p.Arg390Thr)
|
rs202221051
|
0.00029
|
NM_017777.4(MKS1):c.1414C>T (p.Arg472Cys)
|
rs181513926
|
0.00029
|
NM_017950.4(CCDC40):c.1109G>A (p.Arg370His)
|
rs77027689
|
0.00029
|
NM_025114.4(CEP290):c.3102A>G (p.Leu1034=)
|
rs201160801
|
0.00029
|
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)
|
rs150706579
|
0.00029
|
NM_033124.5(CCDC65):c.326C>T (p.Ala109Val)
|
rs139828323
|
0.00029
|
NM_033124.5(CCDC65):c.72G>T (p.Lys24Asn)
|
rs371084552
|
0.00029
|
NM_145038.5(DRC1):c.1399G>C (p.Glu467Gln)
|
rs149007147
|
0.00029
|
NM_145038.5(DRC1):c.1418C>T (p.Ala473Val)
|
rs199574440
|
0.00029
|
NM_145045.5(ODAD3):c.526A>G (p.Arg176Gly)
|
rs143287033
|
0.00029
|
NM_145045.5(ODAD3):c.707A>G (p.Tyr236Cys)
|
rs200305902
|
0.00029
|
NM_198525.3(KIF7):c.2675G>A (p.Arg892His)
|
rs143866575
|
0.00029
|
NM_001206927.2(DNAH8):c.4231A>G (p.Lys1411Glu)
|
rs140704775
|
0.00028
|
NM_001375405.1(CEP120):c.1684A>G (p.Thr562Ala)
|
rs147277049
|
0.00028
|
NM_014956.5(CEP164):c.2206G>A (p.Glu736Lys)
|
rs146053426
|
0.00028
|
NM_015512.5(DNAH1):c.8200G>T (p.Val2734Phe)
|
rs376888480
|
0.00028
|
NM_015910.7(WDPCP):c.208+1G>A
|
rs187135801
|
0.00028
|
NM_018076.5(ODAD2):c.2879G>A (p.Gly960Asp)
|
rs139577934
|
0.00028
|
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val)
|
rs144492051
|
0.00028
|
NM_031924.8(RSPH3):c.1106G>A (p.Arg369Gln)
|
rs150432556
|
0.00028
|
NM_147127.5(EVC2):c.2416G>A (p.Val806Met)
|
rs138128087
|
0.00028
|
NM_213607.3(CCDC103):c.473C>T (p.Ala158Val)
|
rs148834205
|
0.00028
|
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met)
|
rs143430766
|
0.00027
|
NM_001277115.2(DNAH11):c.13309C>T (p.Arg4437Cys)
|
rs200466467
|
0.00027
|
NM_001364171.2(ODAD1):c.2005G>A (p.Gly669Arg)
|
rs140189114
|
0.00027
|
NM_015512.5(DNAH1):c.6412G>A (p.Glu2138Lys)
|
rs375829118
|
0.00027
|
NM_015512.5(DNAH1):c.691A>G (p.Ile231Val)
|
rs201173405
|
0.00027
|
NM_015512.5(DNAH1):c.8662G>T (p.Val2888Leu)
|
rs188851585
|
0.00027
|
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala)
|
rs200670161
|
0.00027
|
NM_080860.4(RSPH1):c.797C>T (p.Pro266Leu)
|
rs146309440
|
0.00027
|
NM_178452.6(DNAAF1):c.1294G>A (p.Glu432Lys)
|
rs144990549
|
0.00027
|
NM_178452.6(DNAAF1):c.628G>A (p.Val210Met)
|
rs76598454
|
0.00027
|
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys)
|
rs201097154
|
0.00027
|
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile)
|
rs200531617
|
0.00026
|
NM_001082538.3(TCTN1):c.1658C>T (p.Thr553Met)
|
rs182406601
|
0.00026
|
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp)
|
rs377130177
|
0.00026
|
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr)
|
rs369682692
|
0.00026
|
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)
|
rs201213079
|
0.00026
|
NM_001382391.1(CSPP1):c.1497-3C>T
|
rs184342035
|
0.00026
|
NM_003114.5(SPAG1):c.713C>T (p.Ala238Val)
|
rs755306741
|
0.00026
|
NM_014704.4(CEP104):c.1883C>T (p.Thr628Met)
|
rs148397021
|
0.00026
|
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr)
|
rs147734438
|
0.00026
|
NM_015272.5(RPGRIP1L):c.3658A>G (p.Ile1220Val)
|
rs147046186
|
0.00026
|
NM_015512.5(DNAH1):c.11435T>C (p.Met3812Thr)
|
rs375533259
|
0.00026
|
NM_015512.5(DNAH1):c.9638A>G (p.Asn3213Ser)
|
rs199560640
|
0.00026
|
NM_015631.6(TCTN3):c.1403C>T (p.Ala468Val)
|
rs140103426
|
0.00026
|
NM_019892.6(INPP5E):c.460C>T (p.Pro154Ser)
|
rs565209005
|
0.00026
|
NM_178452.6(DNAAF1):c.619C>G (p.Leu207Val)
|
rs139743343
|
0.00026
|
NM_198525.3(KIF7):c.1643C>T (p.Pro548Leu)
|
rs369168569
|
0.00026
|
NM_001206927.2(DNAH8):c.3706G>C (p.Asp1236His)
|
rs201420305
|
0.00025
|
NM_001206927.2(DNAH8):c.384G>C (p.Glu128Asp)
|
rs116164504
|
0.00025
|
NM_001206927.2(DNAH8):c.4610G>A (p.Arg1537His)
|
rs375507271
|
0.00025
|
NM_001206927.2(DNAH8):c.5545A>T (p.Ile1849Leu)
|
rs145036630
|
0.00025
|
NM_014704.4(CEP104):c.932G>A (p.Arg311His)
|
rs140022279
|
0.00025
|
NM_014956.5(CEP164):c.2356C>T (p.Arg786Trp)
|
rs139225491
|
0.00025
|
NM_014956.5(CEP164):c.3904C>T (p.Pro1302Ser)
|
rs201430651
|
0.00025
|
NM_015512.5(DNAH1):c.9302A>G (p.Lys3101Arg)
|
rs199884450
|
0.00025
|
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp)
|
rs150938554
|
0.00025
|
NM_018139.3(DNAAF2):c.1129G>C (p.Gly377Arg)
|
rs760933549
|
0.00025
|
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro)
|
rs368525533
|
0.00025
|
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala)
|
rs77579747
|
0.00025
|
NM_031924.8(RSPH3):c.1082T>G (p.Leu361Arg)
|
rs138781661
|
0.00025
|
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys)
|
rs150743868
|
0.00025
|
NM_181426.2(CCDC39):c.83A>C (p.Glu28Ala)
|
rs201794121
|
0.00025
|
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=)
|
rs199776253
|
0.00024
|
NM_001082538.3(TCTN1):c.1304A>G (p.Tyr435Cys)
|
rs201007321
|
0.00024
|
NM_001329943.3(KIAA0586):c.3355A>G (p.Thr1119Ala)
|
rs896789657
|
0.00024
|
NM_001329943.3(KIAA0586):c.3374C>T (p.Ala1125Val)
|
rs201898983
|
0.00024
|
NM_001364171.2(ODAD1):c.548T>G (p.Leu183Arg)
|
rs554391472
|
0.00024
|
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr)
|
rs201738475
|
0.00024
|
NM_001382391.1(CSPP1):c.254A>G (p.His85Arg)
|
rs370605967
|
0.00024
|
NM_006642.5(SDCCAG8):c.1068+3A>G
|
rs201388041
|
0.00024
|
NM_012472.6(DNAAF11):c.644A>G (p.Asn215Ser)
|
rs143717300
|
0.00024
|
NM_014956.5(CEP164):c.2943G>C (p.Glu981Asp)
|
rs112958115
|
0.00024
|
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp)
|
rs146584570
|
0.00024
|
NM_015512.5(DNAH1):c.6554C>T (p.Ser2185Leu)
|
rs369619987
|
0.00024
|
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro)
|
rs749447795
|
0.00024
|
NM_017950.4(CCDC40):c.1228G>A (p.Asp410Asn)
|
rs370948871
|
0.00024
|
NM_018076.5(ODAD2):c.2897C>A (p.Ala966Asp)
|
rs201834298
|
0.00024
|
NM_023036.6(DNAI2):c.854C>T (p.Thr285Met)
|
rs141079076
|
0.00024
|
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn)
|
rs201982308
|
0.00024
|
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)
|
rs374852145
|
0.00024
|
NM_031924.8(RSPH3):c.-10G>T
|
rs143166491
|
0.00024
|
NM_080860.4(RSPH1):c.673C>T (p.Pro225Ser)
|
rs562591045
|
0.00024
|
NM_152384.3(BBS5):c.32G>A (p.Arg11Gln)
|
rs150931960
|
0.00024
|
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr)
|
rs149537641
|
0.00024
|
NM_153717.3(EVC):c.2519C>T (p.Thr840Met)
|
rs143464806
|
0.00024
|
NM_198525.3(KIF7):c.1270C>T (p.Arg424Cys)
|
rs550404869
|
0.00024
|
NM_198525.3(KIF7):c.3797G>A (p.Arg1266Gln)
|
rs144301755
|
0.00024
|
NM_213607.3(CCDC103):c.31G>C (p.Ala11Pro)
|
rs146015856
|
0.00024
|
NM_001206927.2(DNAH8):c.2597A>G (p.Tyr866Cys)
|
rs144797040
|
0.00023
|
NM_001206927.2(DNAH8):c.7714A>C (p.Met2572Leu)
|
rs151051760
|
0.00023
|
NM_001375405.1(CEP120):c.2926A>G (p.Arg976Gly)
|
rs145436175
|
0.00023
|
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys)
|
rs201219078
|
0.00023
|
NM_001481.3(GAS8):c.250A>C (p.Met84Leu)
|
rs139521886
|
0.00023
|
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu)
|
rs199919586
|
0.00023
|
NM_014956.5(CEP164):c.1502A>G (p.Gln501Arg)
|
rs375085754
|
0.00023
|
NM_014956.5(CEP164):c.2669G>A (p.Arg890His)
|
rs368178224
|
0.00023
|
NM_015512.5(DNAH1):c.11348T>C (p.Ile3783Thr)
|
rs149024908
|
0.00023
|
NM_018051.5(DYNC2I1):c.407A>C (p.Gln136Pro)
|
rs781030406
|
0.00023
|
NM_018139.3(DNAAF2):c.700C>T (p.Pro234Ser)
|
rs776126134
|
0.00023
|
NM_020779.4(WDR35):c.2458C>T (p.Arg820Cys)
|
rs141190788
|
0.00023
|
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)
|
rs373341530
|
0.00023
|
NM_033124.5(CCDC65):c.881G>A (p.Arg294His)
|
rs143876144
|
0.00023
|
NM_145038.5(DRC1):c.421T>G (p.Trp141Gly)
|
rs139583194
|
0.00023
|
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)
|
rs375991767
|
0.00023
|
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu)
|
rs146412602
|
0.00023
|
NM_001190787.3(MCIDAS):c.1040C>T (p.Ser347Phe)
|
rs561481156
|
0.00022
|
NM_001206927.2(DNAH8):c.13445T>C (p.Met4482Thr)
|
rs142409299
|
0.00022
|
NM_001206927.2(DNAH8):c.5185A>C (p.Lys1729Gln)
|
rs148767488
|
0.00022
|
NM_001369.3(DNAH5):c.11761+5A>G
|
rs780205801
|
0.00022
|
NM_001378454.1(ALMS1):c.12044G>A (p.Gly4015Asp)
|
rs200462734
|
0.00022
|
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)
|
rs374663067
|
0.00022
|
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)
|
rs372619046
|
0.00022
|
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro)
|
rs201517720
|
0.00022
|
NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr)
|
rs183839621
|
0.00022
|
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln)
|
rs199615641
|
0.00022
|
NM_003114.5(SPAG1):c.845G>A (p.Arg282His)
|
rs144608097
|
0.00022
|
NM_014704.4(CEP104):c.612G>A (p.Met204Ile)
|
rs141906706
|
0.00022
|
NM_014956.5(CEP164):c.1042C>G (p.Pro348Ala)
|
rs147746626
|
0.00022
|
NM_015512.5(DNAH1):c.2816G>A (p.Arg939His)
|
rs200463119
|
0.00022
|
NM_017802.4(DNAAF5):c.2006C>T (p.Thr669Ile)
|
rs141955563
|
0.00022
|
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu)
|
rs201140519
|
0.00022
|
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met)
|
rs370395204
|
0.00022
|
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln)
|
rs772603458
|
0.00022
|
NM_052844.4(DYNC2I2):c.1363T>C (p.Ser455Pro)
|
rs146562225
|
0.00022
|
NM_145038.5(DRC1):c.1247C>G (p.Ala416Gly)
|
rs202052258
|
0.00022
|
NM_145038.5(DRC1):c.215G>C (p.Ser72Thr)
|
rs149398412
|
0.00022
|
NM_147127.5(EVC2):c.3218T>C (p.Val1073Ala)
|
rs149527560
|
0.00022
|
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met)
|
rs375566943
|
0.00022
|
NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys)
|
rs147882975
|
0.00022
|
NM_178452.6(DNAAF1):c.1033G>C (p.Glu345Gln)
|
rs538389058
|
0.00022
|
NM_198428.3(BBS9):c.2593A>G (p.Thr865Ala)
|
rs143963391
|
0.00022
|
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)
|
rs142598777
|
0.00022
|
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg)
|
rs200467447
|
0.00021
|
NM_001082538.3(TCTN1):c.890C>T (p.Thr297Met)
|
rs200460700
|
0.00021
|
NM_001277115.2(DNAH11):c.4775G>T (p.Cys1592Phe)
|
rs72657327
|
0.00021
|
NM_001364171.2(ODAD1):c.1222C>A (p.Leu408Met)
|
rs150271983
|
0.00021
|
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu)
|
rs766187468
|
0.00021
|
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly)
|
rs747204358
|
0.00021
|
NM_001382391.1(CSPP1):c.3156+6C>T
|
rs375100195
|
0.00021
|
NM_001382391.1(CSPP1):c.849T>G (p.Ser283Arg)
|
rs201797415
|
0.00021
|
NM_003114.5(SPAG1):c.2707G>A (p.Asp903Asn)
|
rs148756457
|
0.00021
|
NM_014704.4(CEP104):c.906T>G (p.Phe302Leu)
|
rs529153686
|
0.00021
|
NM_014956.5(CEP164):c.1152A>G (p.Gln384=)
|
rs368171178
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1177G>A (p.Glu393Lys)
|
rs375776718
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)
|
rs148230131
|
0.00021
|
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala)
|
rs201248643
|
0.00021
|
NM_015512.5(DNAH1):c.7126C>T (p.Arg2376Cys)
|
rs767363776
|
0.00021
|
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly)
|
rs201662623
|
0.00021
|
NM_016616.5(NME8):c.1519A>G (p.Lys507Glu)
|
rs148302107
|
0.00021
|
NM_017777.4(MKS1):c.83T>C (p.Val28Ala)
|
rs201957874
|
0.00021
|
NM_017802.4(DNAAF5):c.2510C>T (p.Ser837Leu)
|
rs115620965
|
0.00021
|
NM_017950.4(CCDC40):c.1379T>A (p.Phe460Tyr)
|
rs201576715
|
0.00021
|
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp)
|
rs187993089
|
0.00021
|
NM_018051.5(DYNC2I1):c.1826C>T (p.Ala609Val)
|
rs192753686
|
0.00021
|
NM_024649.5(BBS1):c.432+5A>G
|
rs373923317
|
0.00021
|
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)
|
rs200178519
|
0.00021
|
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr)
|
rs374742528
|
0.00021
|
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala)
|
rs376411291
|
0.00021
|
NM_145038.5(DRC1):c.26C>T (p.Ala9Val)
|
rs146049908
|
0.00021
|
NM_147127.5(EVC2):c.2668G>A (p.Val890Met)
|
rs371698182
|
0.00021
|
NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys)
|
rs149626732
|
0.00021
|
NM_181426.2(CCDC39):c.68A>C (p.Glu23Ala)
|
rs200225521
|
0.00021
|
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu)
|
rs769669385
|
0.00021
|
NM_198525.3(KIF7):c.1090C>T (p.Pro364Ser)
|
rs764965490
|
0.00021
|
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)
|
rs376578633
|
0.00020
|
NM_001174150.2(ARL13B):c.1253G>A (p.Arg418Gln)
|
rs142510905
|
0.00020
|
NM_001206927.2(DNAH8):c.11865G>T (p.Glu3955Asp)
|
rs377043320
|
0.00020
|
NM_001206927.2(DNAH8):c.7969T>C (p.Phe2657Leu)
|
rs372849137
|
0.00020
|
NM_001206927.2(DNAH8):c.8976G>C (p.Gln2992His)
|
rs575113985
|
0.00020
|
NM_001206927.2(DNAH8):c.9839A>T (p.Gln3280Leu)
|
rs180859001
|
0.00020
|
NM_001244189.2(KIAA0586):c.3G>A (p.Met1Ile)
|
rs753810786
|
0.00020
|
NM_001377.3(DYNC2H1):c.913G>A (p.Val305Met)
|
rs201188696
|
0.00020
|
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser)
|
rs775431837
|
0.00020
|
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser)
|
rs199922877
|
0.00020
|
NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr)
|
rs377360750
|
0.00020
|
NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly)
|
rs188857186
|
0.00020
|
NM_001481.3(GAS8):c.1255G>A (p.Asp419Asn)
|
rs146370084
|
0.00020
|
NM_015910.7(WDPCP):c.1789G>A (p.Val597Ile)
|
rs776917693
|
0.00020
|
NM_017777.4(MKS1):c.469G>A (p.Glu157Lys)
|
rs200970148
|
0.00020
|
NM_017802.4(DNAAF5):c.380G>A (p.Gly127Asp)
|
rs1209538602
|
0.00020
|
NM_017950.4(CCDC40):c.1456G>A (p.Asp486Asn)
|
rs375800869
|
0.00020
|
NM_024809.5(TCTN2):c.1756G>A (p.Gly586Ser)
|
rs199543783
|
0.00020
|
NM_033028.5(BBS4):c.337C>T (p.Leu113Phe)
|
rs760909426
|
0.00020
|
NM_170784.3(MKKS):c.59A>G (p.Glu20Gly)
|
rs199553497
|
0.00020
|
NM_176824.3(BBS7):c.1097C>T (p.Ser366Phe)
|
rs200373010
|
0.00020
|
NM_178452.6(DNAAF1):c.1838C>A (p.Thr613Asn)
|
rs145075337
|
0.00020
|
NM_001082538.3(TCTN1):c.1676C>T (p.Ala559Val)
|
rs373723058
|
0.00019
|
NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu)
|
rs372585344
|
0.00019
|
NM_001206927.2(DNAH8):c.2980A>T (p.Ile994Leu)
|
rs141818413
|
0.00019
|
NM_001206927.2(DNAH8):c.451A>G (p.Ile151Val)
|
rs371708059
|
0.00019
|
NM_001206927.2(DNAH8):c.8224A>C (p.Ile2742Leu)
|
rs371362386
|
0.00019
|
NM_001206927.2(DNAH8):c.9167A>G (p.Tyr3056Cys)
|
rs139564138
|
0.00019
|
NM_001256715.2(DNAAF3):c.466C>T (p.Leu156Phe)
|
rs372945469
|
0.00019
|
NM_001277115.2(DNAH11):c.1134_1139del (p.Asn379_Thr380del)
|
rs765249771
|
0.00019
|
NM_001329943.3(KIAA0586):c.1237C>T (p.Pro413Ser)
|
rs377325998
|
0.00019
|
NM_001329943.3(KIAA0586):c.411-1363G>C
|
rs570489575
|
0.00019
|
NM_001377.3(DYNC2H1):c.1384C>T (p.Arg462Trp)
|
rs768459821
|
0.00019
|
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr)
|
rs201028172
|
0.00019
|
NM_001378454.1(ALMS1):c.3295C>A (p.Gln1099Lys)
|
rs764823951
|
0.00019
|
NM_001378454.1(ALMS1):c.3379C>T (p.Pro1127Ser)
|
rs182127619
|
0.00019
|
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
|
rs373366352
|
0.00019
|
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser)
|
rs192863498
|
0.00019
|
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr)
|
rs367656336
|
0.00019
|
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg)
|
rs539112266
|
0.00019
|
NM_001378454.1(ALMS1):c.8416T>G (p.Phe2806Val)
|
rs763332859
|
0.00019
|
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe)
|
rs373944325
|
0.00019
|
NM_001382391.1(CSPP1):c.773G>A (p.Arg258Lys)
|
rs199901120
|
0.00019
|
NM_001481.3(GAS8):c.1039C>T (p.Arg347Trp)
|
rs138104460
|
0.00019
|
NM_003114.5(SPAG1):c.1406C>G (p.Ser469Trp)
|
rs756472753
|
0.00019
|
NM_003114.5(SPAG1):c.1562T>C (p.Met521Thr)
|
rs140258045
|
0.00019
|
NM_003114.5(SPAG1):c.476C>T (p.Ala159Val)
|
rs370505284
|
0.00019
|
NM_003114.5(SPAG1):c.842G>A (p.Arg281His)
|
rs369126472
|
0.00019
|
NM_006642.5(SDCCAG8):c.947T>C (p.Met316Thr)
|
rs200461035
|
0.00019
|
NM_012210.4(TRIM32):c.521C>T (p.Ser174Phe)
|
rs138699534
|
0.00019
|
NM_012210.4(TRIM32):c.578G>A (p.Arg193His)
|
rs373853273
|
0.00019
|
NM_014704.4(CEP104):c.2182A>G (p.Asn728Asp)
|
rs144805659
|
0.00019
|
NM_015512.5(DNAH1):c.11153G>A (p.Arg3718His)
|
rs371451336
|
0.00019
|
NM_015512.5(DNAH1):c.11683A>G (p.Met3895Val)
|
rs376301831
|
0.00019
|
NM_015512.5(DNAH1):c.4026G>C (p.Gln1342His)
|
rs750380752
|
0.00019
|
NM_015512.5(DNAH1):c.4108G>A (p.Glu1370Lys)
|
rs201610799
|
0.00019
|
NM_015512.5(DNAH1):c.8491C>A (p.Arg2831Ser)
|
rs558159006
|
0.00019
|
NM_015662.3(IFT172):c.235A>G (p.Thr79Ala)
|
rs752069515
|
0.00019
|
NM_015662.3(IFT172):c.4147G>A (p.Glu1383Lys)
|
rs147668131
|
0.00019
|
NM_015681.6(B9D1):c.11C>G (p.Ala4Gly)
|
rs148563865
|
0.00019
|
NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu)
|
rs768802269
|
0.00019
|
NM_017777.4(MKS1):c.1363G>C (p.Glu455Gln)
|
rs199927741
|
0.00019
|
NM_017777.4(MKS1):c.1408-3C>T
|
rs377033273
|
0.00019
|
NM_017950.4(CCDC40):c.3176G>A (p.Arg1059Gln)
|
rs200902434
|
0.00019
|
NM_018051.5(DYNC2I1):c.1726G>A (p.Asp576Asn)
|
rs201190743
|
0.00019
|
NM_018051.5(DYNC2I1):c.69G>A (p.Trp23Ter)
|
rs202111347
|
0.00019
|
NM_018139.3(DNAAF2):c.332G>C (p.Arg111Pro)
|
rs549781788
|
0.00019
|
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys)
|
rs140196566
|
0.00019
|
NM_020779.4(WDR35):c.2456A>G (p.Glu819Gly)
|
rs139352103
|
0.00019
|
NM_020800.3(IFT80):c.1826G>A (p.Arg609His)
|
rs540494495
|
0.00019
|
NM_021147.5(CCNO):c.605C>T (p.Ala202Val)
|
rs143998638
|
0.00019
|
NM_023036.6(DNAI2):c.1804G>A (p.Glu602Lys)
|
rs532046902
|
0.00019
|
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr)
|
rs145094101
|
0.00019
|
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys)
|
rs374656545
|
0.00019
|
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala)
|
rs199678654
|
0.00019
|
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys)
|
rs147397090
|
0.00019
|
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)
|
rs199898889
|
0.00019
|
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly)
|
rs148843256
|
0.00019
|
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro)
|
rs148407223
|
0.00019
|
NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg)
|
rs373512514
|
0.00019
|
NM_198525.3(KIF7):c.1412A>C (p.Asp471Ala)
|
rs922192277
|
0.00019
|
NM_198525.3(KIF7):c.1568G>A (p.Arg523Gln)
|
rs769192339
|
0.00019
|
NM_198525.3(KIF7):c.2426G>A (p.Arg809Gln)
|
rs758378987
|
0.00019
|
NM_001010892.3(RSPH4A):c.1340T>C (p.Val447Ala)
|
rs371062144
|
0.00018
|
NM_001277115.2(DNAH11):c.3646G>A (p.Glu1216Lys)
|
rs201197846
|
0.00018
|
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys)
|
rs199537542
|
0.00018
|
NM_001329943.3(KIAA0586):c.730G>C (p.Glu244Gln)
|
rs376338487
|
0.00018
|
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His)
|
rs201180147
|
0.00018
|
NM_001378454.1(ALMS1):c.649A>G (p.Ile217Val)
|
rs200944504
|
0.00018
|
NM_001382391.1(CSPP1):c.2294C>A (p.Ala765Glu)
|
rs376549634
|
0.00018
|
NM_003114.5(SPAG1):c.1360G>C (p.Glu454Gln)
|
rs878855237
|
0.00018
|
NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His)
|
rs200657425
|
0.00018
|
NM_012472.6(DNAAF11):c.472G>T (p.Ala158Ser)
|
rs146136398
|
0.00018
|
NM_014956.5(CEP164):c.1316A>T (p.Gln439Leu)
|
rs143370558
|
0.00018
|
NM_014956.5(CEP164):c.338A>G (p.Lys113Arg)
|
rs77118839
|
0.00018
|
NM_015512.5(DNAH1):c.2188C>T (p.Arg730Trp)
|
rs371359758
|
0.00018
|
NM_015512.5(DNAH1):c.9373G>C (p.Gly3125Arg)
|
rs374687152
|
0.00018
|
NM_017950.4(CCDC40):c.1025A>G (p.Gln342Arg)
|
rs201057426
|
0.00018
|
NM_017950.4(CCDC40):c.598G>A (p.Val200Ile)
|
rs200292678
|
0.00018
|
NM_018051.5(DYNC2I1):c.1676C>T (p.Pro559Leu)
|
rs187658316
|
0.00018
|
NM_020779.4(WDR35):c.1330C>T (p.Arg444Cys)
|
rs148510977
|
0.00018
|
NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser)
|
rs142140276
|
0.00018
|
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys)
|
rs369902368
|
0.00018
|
NM_031924.8(RSPH3):c.-48T>A
|
rs151230376
|
0.00018
|
NM_033124.5(CCDC65):c.1067T>C (p.Phe356Ser)
|
rs748848510
|
0.00018
|
NM_152384.3(BBS5):c.197G>A (p.Arg66Lys)
|
rs200250398
|
0.00018
|
NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln)
|
rs149078926
|
0.00018
|
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr)
|
rs201412708
|
0.00017
|
NM_001199397.3(NEK1):c.1925C>G (p.Ala642Gly)
|
rs529024280
|
0.00017
|
NM_001199397.3(NEK1):c.2974G>A (p.Glu992Lys)
|
rs369134166
|
0.00017
|
NM_001206927.2(DNAH8):c.436C>T (p.Pro146Ser)
|
rs753060938
|
0.00017
|
NM_001206927.2(DNAH8):c.9811G>T (p.Ala3271Ser)
|
rs137889757
|
0.00017
|
NM_001277115.2(DNAH11):c.8671C>T (p.Arg2891Trp)
|
rs199574130
|
0.00017
|
NM_001364171.2(ODAD1):c.991G>A (p.Glu331Lys)
|
rs142193030
|
0.00017
|
NM_001375405.1(CEP120):c.196C>T (p.His66Tyr)
|
rs751682861
|
0.00017
|
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln)
|
rs372563916
|
0.00017
|
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)
|
rs200586877
|
0.00017
|
NM_003114.5(SPAG1):c.2515A>T (p.Met839Leu)
|
rs142674953
|
0.00017
|
NM_012144.4(DNAI1):c.2045T>C (p.Ile682Thr)
|
rs138460682
|
0.00017
|
NM_014956.5(CEP164):c.2195C>T (p.Ser732Leu)
|
rs559070007
|
0.00017
|
NM_014956.5(CEP164):c.2255G>A (p.Arg752Lys)
|
rs753614257
|
0.00017
|
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn)
|
rs200520898
|
0.00017
|
NM_015662.3(IFT172):c.2976-3C>T
|
rs371847154
|
0.00017
|
NM_015662.3(IFT172):c.3400C>T (p.Arg1134Trp)
|
rs139223261
|
0.00017
|
NM_015662.3(IFT172):c.3435T>G (p.His1145Gln)
|
rs202111577
|
0.00017
|
NM_016616.5(NME8):c.1689C>G (p.Asn563Lys)
|
rs138317061
|
0.00017
|
NM_024753.5(TTC21B):c.2339A>T (p.Glu780Val)
|
rs371940683
|
0.00017
|
NM_024753.5(TTC21B):c.2549C>T (p.Ala850Val)
|
rs199795649
|
0.00017
|
NM_024753.5(TTC21B):c.3787C>T (p.Arg1263Trp)
|
rs367690496
|
0.00017
|
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val)
|
rs201967816
|
0.00017
|
NM_031924.8(RSPH3):c.571G>A (p.Val191Ile)
|
rs147697861
|
0.00017
|
NM_031924.8(RSPH3):c.911T>C (p.Met304Thr)
|
rs369846962
|
0.00017
|
NM_145045.5(ODAD3):c.576G>T (p.Met192Ile)
|
rs201977207
|
0.00017
|
NM_147127.5(EVC2):c.1003C>T (p.Arg335Trp)
|
rs148884226
|
0.00017
|
NM_181426.2(CCDC39):c.1612C>G (p.Leu538Val)
|
rs377319302
|
0.00017
|
NM_198525.3(KIF7):c.1324G>T (p.Asp442Tyr)
|
rs747307729
|
0.00017
|
NM_001010892.3(RSPH4A):c.242C>T (p.Ser81Leu)
|
rs371869815
|
0.00016
|
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)
|
rs200927282
|
0.00016
|
NM_001134831.2(AHI1):c.2231A>G (p.Lys744Arg)
|
rs373014753
|
0.00016
|
NM_001134831.2(AHI1):c.3223G>A (p.Gly1075Arg)
|
rs750115460
|
0.00016
|
NM_001174150.2(ARL13B):c.1136C>T (p.Pro379Leu)
|
rs149587888
|
0.00016
|
NM_001206927.2(DNAH8):c.1192C>T (p.Arg398Cys)
|
rs370751861
|
0.00016
|
NM_001206927.2(DNAH8):c.11972C>T (p.Thr3991Ile)
|
rs145485818
|
0.00016
|
NM_001206927.2(DNAH8):c.13858C>T (p.Leu4620Phe)
|
rs139810428
|
0.00016
|
NM_001256715.2(DNAAF3):c.469C>T (p.Arg157Cys)
|
rs369116839
|
0.00016
|
NM_001277115.2(DNAH11):c.9925-3C>T
|
rs774970534
|
0.00016
|
NM_001329943.3(KIAA0586):c.411-1369A>G
|
rs1044844835
|
0.00016
|
NM_001382391.1(CSPP1):c.1359A>C (p.Arg453Ser)
|
rs377385599
|
0.00016
|
NM_001382391.1(CSPP1):c.3529T>G (p.Ser1177Ala)
|
rs374262758
|
0.00016
|
NM_001481.3(GAS8):c.1306C>T (p.Arg436Cys)
|
rs555627699
|
0.00016
|
NM_001481.3(GAS8):c.3+6C>T
|
rs552480254
|
0.00016
|
NM_012472.6(DNAAF11):c.1109C>G (p.Thr370Arg)
|
rs148424037
|
0.00016
|
NM_014704.4(CEP104):c.2571+6G>A
|
rs373332298
|
0.00016
|
NM_014956.5(CEP164):c.3764G>T (p.Ser1255Ile)
|
rs147414766
|
0.00016
|
NM_015512.5(DNAH1):c.577G>A (p.Glu193Lys)
|
rs757070489
|
0.00016
|
NM_015512.5(DNAH1):c.8695G>T (p.Ala2899Ser)
|
rs765908379
|
0.00016
|
NM_015631.6(TCTN3):c.977A>G (p.Tyr326Cys)
|
rs888502576
|
0.00016
|
NM_015896.4(ZMYND10):c.637C>T (p.His213Tyr)
|
rs199711270
|
0.00016
|
NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile)
|
rs201412509
|
0.00016
|
NM_017777.4(MKS1):c.1113C>A (p.Phe371Leu)
|
rs950609840
|
0.00016
|
NM_017950.4(CCDC40):c.1067C>T (p.Ser356Leu)
|
rs200448007
|
0.00016
|
NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile)
|
rs200701665
|
0.00016
|
NM_017950.4(CCDC40):c.1800C>G (p.Asp600Glu)
|
rs965506812
|
0.00016
|
NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn)
|
rs201815496
|
0.00016
|
NM_017950.4(CCDC40):c.760G>A (p.Glu254Lys)
|
rs758247990
|
0.00016
|
NM_018051.5(DYNC2I1):c.1315C>G (p.Gln439Glu)
|
rs372622058
|
0.00016
|
NM_018076.5(ODAD2):c.2284G>C (p.Val762Leu)
|
rs201498403
|
0.00016
|
NM_020779.4(WDR35):c.2254G>A (p.Glu752Lys)
|
rs756006241
|
0.00016
|
NM_020800.3(IFT80):c.634T>C (p.Tyr212His)
|
rs756009771
|
0.00016
|
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu)
|
rs141255069
|
0.00016
|
NM_024753.5(TTC21B):c.1448C>A (p.Thr483Asn)
|
rs142887208
|
0.00016
|
NM_024809.5(TCTN2):c.1015A>G (p.Lys339Glu)
|
rs563272016
|
0.00016
|
NM_024809.5(TCTN2):c.316T>G (p.Ser106Ala)
|
rs148032415
|
0.00016
|
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)
|
rs202159966
|
0.00016
|
NM_033028.5(BBS4):c.1036+6A>G
|
rs374383864
|
0.00016
|
NM_052844.4(DYNC2I2):c.991G>A (p.Gly331Arg)
|
rs765921383
|
0.00016
|
NM_145038.5(DRC1):c.1186G>A (p.Glu396Lys)
|
rs774466512
|
0.00016
|
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr)
|
rs201201603
|
0.00016
|
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)
|
rs372102223
|
0.00016
|
NM_170784.3(MKKS):c.1028G>A (p.Ser343Asn)
|
rs558813240
|
0.00016
|
NM_170784.3(MKKS):c.697A>C (p.Ile233Leu)
|
rs141201812
|
0.00016
|
NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys)
|
rs199526690
|
0.00016
|
NM_198428.3(BBS9):c.736C>T (p.Leu246Phe)
|
rs140821420
|
0.00016
|
NM_198525.3(KIF7):c.208G>A (p.Val70Met)
|
rs761934745
|
0.00016
|
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln)
|
rs147003118
|
0.00015
|
NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val)
|
rs866563020
|
0.00015
|
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly)
|
rs369869567
|
0.00015
|
NM_001206927.2(DNAH8):c.1952A>G (p.Asn651Ser)
|
rs375668014
|
0.00015
|
NM_001329943.3(KIAA0586):c.3377C>T (p.Ala1126Val)
|
rs750969059
|
0.00015
|
NM_001369.3(DNAH5):c.11570+5G>A
|
rs771916783
|
0.00015
|
NM_001375405.1(CEP120):c.1484T>C (p.Val495Ala)
|
rs150887058
|
0.00015
|
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys)
|
rs200293447
|
0.00015
|
NM_001378454.1(ALMS1):c.6812A>G (p.Asn2271Ser)
|
rs111659663
|
0.00015
|
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
|
rs199604280
|
0.00015
|
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)
|
rs202228570
|
0.00015
|
NM_001378615.1(CC2D2A):c.3368G>A (p.Ser1123Asn)
|
rs377404804
|
0.00015
|
NM_001382391.1(CSPP1):c.148A>G (p.Met50Val)
|
rs375985758
|
0.00015
|
NM_001481.3(GAS8):c.1061A>G (p.Gln354Arg)
|
rs761102420
|
0.00015
|
NM_014704.4(CEP104):c.487A>C (p.Thr163Pro)
|
rs200208264
|
0.00015
|
NM_015272.5(RPGRIP1L):c.481C>T (p.Arg161Cys)
|
rs374860980
|
0.00015
|
NM_015631.6(TCTN3):c.821C>G (p.Ala274Gly)
|
rs377047502
|
0.00015
|
NM_015662.3(IFT172):c.3851G>A (p.Arg1284Gln)
|
rs147394910
|
0.00015
|
NM_015662.3(IFT172):c.706C>T (p.Arg236Cys)
|
rs146290725
|
0.00015
|
NM_017950.4(CCDC40):c.38C>T (p.Pro13Leu)
|
rs541172966
|
0.00015
|
NM_018051.5(DYNC2I1):c.1573A>G (p.Lys525Glu)
|
rs777679941
|
0.00015
|
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val)
|
rs370951527
|
0.00015
|
NM_020800.3(IFT80):c.758G>A (p.Arg253His)
|
rs144738877
|
0.00015
|
NM_021147.5(CCNO):c.62A>G (p.Asn21Ser)
|
rs748757403
|
0.00015
|
NM_052844.4(DYNC2I2):c.14C>G (p.Ala5Gly)
|
rs544655044
|
0.00015
|
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile)
|
rs370004832
|
0.00015
|
NM_178452.6(DNAAF1):c.1532C>T (p.Pro511Leu)
|
rs144393177
|
0.00015
|
NM_178452.6(DNAAF1):c.752A>G (p.Asn251Ser)
|
rs760764943
|
0.00015
|
NM_001010892.3(RSPH4A):c.1286A>G (p.Tyr429Cys)
|
rs140079844
|
0.00014
|
NM_001082538.3(TCTN1):c.1060G>A (p.Val354Ile)
|
rs374701683
|
0.00014
|
NM_001082538.3(TCTN1):c.14G>A (p.Gly5Asp)
|
rs572300029
|
0.00014
|
NM_001174150.2(ARL13B):c.1070A>G (p.His357Arg)
|
rs150821066
|
0.00014
|
NM_001190787.3(MCIDAS):c.301G>T (p.Ala101Ser)
|
rs921264958
|
0.00014
|
NM_001199397.3(NEK1):c.292G>A (p.Val98Ile)
|
rs115005766
|
0.00014
|
NM_001206927.2(DNAH8):c.11851A>G (p.Thr3951Ala)
|
rs140937135
|
0.00014
|
NM_001206927.2(DNAH8):c.2159A>T (p.Asp720Val)
|
rs138373981
|
0.00014
|
NM_001206927.2(DNAH8):c.5171G>A (p.Gly1724Asp)
|
rs45461493
|
0.00014
|
NM_001277115.2(DNAH11):c.1425+4T>C
|
rs1034720999
|
0.00014
|
NM_001329943.3(KIAA0586):c.1259C>T (p.Pro420Leu)
|
rs187783779
|
0.00014
|
NM_001329943.3(KIAA0586):c.1490A>G (p.Asn497Ser)
|
rs753633031
|
0.00014
|
NM_001329943.3(KIAA0586):c.395C>G (p.Thr132Arg)
|
rs200627657
|
0.00014
|
NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys)
|
rs201929144
|
0.00014
|
NM_001364171.2(ODAD1):c.1771C>T (p.Arg591Cys)
|
rs369825835
|
0.00014
|
NM_001369.3(DNAH5):c.3315C>A (p.Asn1105Lys)
|
rs144053917
|
0.00014
|
NM_001375405.1(CEP120):c.358A>G (p.Thr120Ala)
|
rs202103949
|
0.00014
|
NM_001377.3(DYNC2H1):c.11788C>T (p.Arg3930Cys)
|
rs199705540
|
0.00014
|
NM_001377.3(DYNC2H1):c.12040G>A (p.Val4014Ile)
|
rs532644983
|
0.00014
|
NM_001377.3(DYNC2H1):c.3128G>A (p.Arg1043His)
|
rs372627366
|
0.00014
|
NM_001378454.1(ALMS1):c.10533G>T (p.Trp3511Cys)
|
rs761712682
|
0.00014
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
NM_001378454.1(ALMS1):c.331C>G (p.Pro111Ala)
|
rs368354870
|
0.00014
|
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg)
|
rs371516347
|
0.00014
|
NM_001378454.1(ALMS1):c.4259G>T (p.Gly1420Val)
|
rs1445492577
|
0.00014
|
NM_001378454.1(ALMS1):c.5117C>T (p.Ser1706Leu)
|
rs1187000436
|
0.00014
|
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln)
|
rs201677365
|
0.00014
|
NM_001378615.1(CC2D2A):c.3014+4A>C
|
rs748451478
|
0.00014
|
NM_001378615.1(CC2D2A):c.3113A>T (p.Asp1038Val)
|
rs376913682
|
0.00014
|
NM_001378615.1(CC2D2A):c.3288+3G>A
|
rs372903309
|
0.00014
|
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg)
|
rs368180778
|
0.00014
|
NM_001382391.1(CSPP1):c.-101A>G
|
rs200250731
|
0.00014
|
NM_001382391.1(CSPP1):c.1675C>A (p.His559Asn)
|
rs201417325
|
0.00014
|
NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys)
|
rs199521775
|
0.00014
|
NM_001481.3(GAS8):c.1221+6C>T
|
rs374119905
|
0.00014
|
NM_003114.5(SPAG1):c.146G>A (p.Gly49Asp)
|
rs373595762
|
0.00014
|
NM_012144.4(DNAI1):c.356G>A (p.Arg119Gln)
|
rs141704318
|
0.00014
|
NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys)
|
rs146277966
|
0.00014
|
NM_014956.5(CEP164):c.944A>G (p.Glu315Gly)
|
rs144767290
|
0.00014
|
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg)
|
rs111459222
|
0.00014
|
NM_015272.5(RPGRIP1L):c.3690G>A (p.Met1230Ile)
|
rs141838831
|
0.00014
|
NM_015512.5(DNAH1):c.10534A>G (p.Asn3512Asp)
|
rs542965042
|
0.00014
|
NM_015512.5(DNAH1):c.10537G>A (p.Val3513Ile)
|
rs201247575
|
0.00014
|
NM_015512.5(DNAH1):c.10895G>A (p.Arg3632His)
|
rs562263699
|
0.00014
|
NM_015512.5(DNAH1):c.3071T>G (p.Leu1024Arg)
|
rs61731651
|
0.00014
|
NM_015662.3(IFT172):c.4209G>C (p.Gln1403His)
|
rs149065251
|
0.00014
|
NM_015662.3(IFT172):c.590C>T (p.Pro197Leu)
|
rs368373262
|
0.00014
|
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu)
|
rs141011629
|
0.00014
|
NM_016616.5(NME8):c.743C>A (p.Pro248His)
|
rs199973571
|
0.00014
|
NM_017802.4(DNAAF5):c.697G>A (p.Ala233Thr)
|
rs149139347
|
0.00014
|
NM_017802.4(DNAAF5):c.884A>G (p.Asn295Ser)
|
rs377147369
|
0.00014
|
NM_017950.4(CCDC40):c.1949A>G (p.Asn650Ser)
|
rs201064110
|
0.00014
|
NM_017950.4(CCDC40):c.2159C>T (p.Thr720Met)
|
rs201407989
|
0.00014
|
NM_017950.4(CCDC40):c.772A>G (p.Met258Val)
|
rs200614903
|
0.00014
|
NM_018051.5(DYNC2I1):c.2540G>A (p.Gly847Asp)
|
rs372734939
|
0.00014
|
NM_018076.5(ODAD2):c.2506C>T (p.Arg836Cys)
|
rs369264618
|
0.00014
|
NM_018076.5(ODAD2):c.43G>A (p.Gly15Arg)
|
rs375424862
|
0.00014
|
NM_020800.3(IFT80):c.655G>A (p.Gly219Ser)
|
rs201365447
|
0.00014
|
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser)
|
rs138081429
|
0.00014
|
NM_023036.6(DNAI2):c.1040G>A (p.Arg347His)
|
rs138489039
|
0.00014
|
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr)
|
rs146769635
|
0.00014
|
NM_023036.6(DNAI2):c.1615G>A (p.Val539Ile)
|
rs199817659
|
0.00014
|
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
|
rs145718265
|
0.00014
|
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu)
|
rs183387506
|
0.00014
|
NM_030578.4(B9D2):c.150G>C (p.Gln50His)
|
rs747988749
|
0.00014
|
NM_033124.5(CCDC65):c.980T>A (p.Leu327Gln)
|
rs149740964
|
0.00014
|
NM_145038.5(DRC1):c.1913A>C (p.Lys638Thr)
|
rs142671417
|
0.00014
|
NM_145045.5(ODAD3):c.914A>G (p.Lys305Arg)
|
rs762033637
|
0.00014
|
NM_152618.3(BBS12):c.787T>C (p.Tyr263His)
|
rs150040166
|
0.00014
|
NM_153717.3(EVC):c.1777G>A (p.Val593Met)
|
rs150535483
|
0.00014
|
NM_170784.3(MKKS):c.1625T>G (p.Leu542Trp)
|
rs372944937
|
0.00014
|
NM_178452.6(DNAAF1):c.1852C>T (p.Arg618Trp)
|
rs369294412
|
0.00014
|
NM_178452.6(DNAAF1):c.2120C>T (p.Pro707Leu)
|
rs757455850
|
0.00014
|
NM_181426.2(CCDC39):c.2155T>C (p.Ser719Pro)
|
rs561979601
|
0.00014
|
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln)
|
rs149042169
|
0.00014
|
NM_198525.3(KIF7):c.1025A>T (p.Tyr342Phe)
|
rs372182012
|
0.00014
|
NM_198525.3(KIF7):c.1903C>T (p.Arg635Trp)
|
rs150543610
|
0.00014
|
NM_198525.3(KIF7):c.2477G>A (p.Arg826Gln)
|
rs148044329
|
0.00014
|
NM_001082538.3(TCTN1):c.1531G>A (p.Ala511Thr)
|
rs369125553
|
0.00013
|
NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser)
|
rs375425462
|
0.00013
|
NM_001134831.2(AHI1):c.2962-3T>C
|
rs369713977
|
0.00013
|
NM_001134831.2(AHI1):c.9A>G (p.Thr3=)
|
rs761022642
|
0.00013
|
NM_001206927.2(DNAH8):c.12052C>T (p.Arg4018Cys)
|
rs577374411
|
0.00013
|
NM_001206927.2(DNAH8):c.4513G>A (p.Val1505Ile)
|
rs200202666
|
0.00013
|
NM_001206927.2(DNAH8):c.7384G>A (p.Val2462Ile)
|
rs201809379
|
0.00013
|
NM_001256715.2(DNAAF3):c.1210G>A (p.Gly404Arg)
|
rs202084011
|
0.00013
|
NM_001329943.3(KIAA0586):c.2287C>T (p.Pro763Ser)
|
rs776790149
|
0.00013
|
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp)
|
rs201479015
|
0.00013
|
NM_001377.3(DYNC2H1):c.12776G>T (p.Gly4259Val)
|
rs368203507
|
0.00013
|
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp)
|
rs200992340
|
0.00013
|
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln)
|
rs200378498
|
0.00013
|
NM_001378454.1(ALMS1):c.121G>C (p.Val41Leu)
|
rs201868751
|
0.00013
|
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met)
|
rs375314465
|
0.00013
|
NM_001378454.1(ALMS1):c.4394C>T (p.Thr1465Met)
|
rs200980776
|
0.00013
|
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu)
|
rs376989302
|
0.00013
|
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu)
|
rs200368564
|
0.00013
|
NM_001378454.1(ALMS1):c.6816G>A (p.Met2272Ile)
|
rs765233946
|
0.00013
|
NM_001382391.1(CSPP1):c.3466dup (p.Thr1156fs)
|
rs748602759
|
0.00013
|
NM_003114.5(SPAG1):c.902A>G (p.Lys301Arg)
|
rs199515118
|
0.00013
|
NM_006642.5(SDCCAG8):c.1429G>C (p.Glu477Gln)
|
rs556191085
|
0.00013
|
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met)
|
rs150261456
|
0.00013
|
NM_012472.6(DNAAF11):c.611C>T (p.Ala204Val)
|
rs376633613
|
0.00013
|
NM_014714.4(IFT140):c.2797G>A (p.Glu933Lys)
|
rs1259402740
|
0.00013
|
NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln)
|
rs138596995
|
0.00013
|
NM_014956.5(CEP164):c.1507G>A (p.Glu503Lys)
|
rs763864742
|
0.00013
|
NM_015512.5(DNAH1):c.11837T>C (p.Ile3946Thr)
|
rs374798612
|
0.00013
|
NM_015512.5(DNAH1):c.581+4C>T
|
rs376123460
|
0.00013
|
NM_015631.6(TCTN3):c.1474T>A (p.Cys492Ser)
|
rs149728983
|
0.00013
|
NM_017950.4(CCDC40):c.2156G>A (p.Arg719His)
|
rs572440259
|
0.00013
|
NM_018076.5(ODAD2):c.2630G>A (p.Arg877His)
|
rs376143899
|
0.00013
|
NM_018076.5(ODAD2):c.26C>T (p.Thr9Met)
|
rs181484327
|
0.00013
|
NM_019892.6(INPP5E):c.554T>A (p.Leu185Gln)
|
rs372412898
|
0.00013
|
NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly)
|
rs369515554
|
0.00013
|
NM_024753.5(TTC21B):c.3182A>G (p.Tyr1061Cys)
|
rs200280772
|
0.00013
|
NM_025114.4(CEP290):c.1384G>A (p.Val462Ile)
|
rs374199052
|
0.00013
|
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile)
|
rs368492668
|
0.00013
|
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val)
|
rs373737104
|
0.00013
|
NM_025132.4(WDR19):c.3483+5G>A
|
rs201216969
|
0.00013
|
NM_031924.8(RSPH3):c.-198G>A
|
rs199715125
|
0.00013
|
NM_031924.8(RSPH3):c.469G>C (p.Ala157Pro)
|
rs138202910
|
0.00013
|
NM_031924.8(RSPH3):c.851T>C (p.Ile284Thr)
|
rs533324922
|
0.00013
|
NM_033028.5(BBS4):c.64C>T (p.Arg22Trp)
|
rs727503820
|
0.00013
|
NM_052844.4(DYNC2I2):c.289G>A (p.Val97Met)
|
rs748058396
|
0.00013
|
NM_052844.4(DYNC2I2):c.961C>T (p.Arg321Trp)
|
rs369567140
|
0.00013
|
NM_052844.4(DYNC2I2):c.988C>T (p.Arg330Cys)
|
rs200271161
|
0.00013
|
NM_080860.4(RSPH1):c.430G>A (p.Gly144Arg)
|
rs201489134
|
0.00013
|
NM_080860.4(RSPH1):c.817G>A (p.Val273Ile)
|
rs374702500
|
0.00013
|
NM_145038.5(DRC1):c.1585G>A (p.Asp529Asn)
|
rs201581530
|
0.00013
|
NM_145045.5(ODAD3):c.1507G>T (p.Val503Leu)
|
rs368706462
|
0.00013
|
NM_145045.5(ODAD3):c.659C>T (p.Ala220Val)
|
rs368057071
|
0.00013
|
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile)
|
rs201949664
|
0.00013
|
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly)
|
rs370721640
|
0.00013
|
NM_153717.3(EVC):c.2449+4C>T
|
rs753679138
|
0.00013
|
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val)
|
rs144034147
|
0.00013
|
NM_181426.2(CCDC39):c.1229A>G (p.Gln410Arg)
|
rs376852194
|
0.00013
|
NM_198428.3(BBS9):c.1768G>A (p.Val590Ile)
|
rs143016114
|
0.00013
|
NM_198428.3(BBS9):c.2309A>G (p.Glu770Gly)
|
rs149668719
|
0.00013
|
NM_198428.3(BBS9):c.767C>T (p.Ser256Leu)
|
rs149790873
|
0.00013
|
NM_198525.3(KIF7):c.2072G>A (p.Arg691His)
|
rs377712806
|
0.00013
|
NM_198525.3(KIF7):c.2084C>T (p.Pro695Leu)
|
rs571373108
|
0.00013
|
NM_198525.3(KIF7):c.3893C>T (p.Ala1298Val)
|
rs146300227
|
0.00013
|
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)
|
rs372018476
|
0.00012
|
NM_001134831.2(AHI1):c.2203A>G (p.Ile735Val)
|
rs375643798
|
0.00012
|
NM_001199397.3(NEK1):c.2224C>T (p.Arg742Cys)
|
rs201200462
|
0.00012
|
NM_001206927.2(DNAH8):c.5603T>G (p.Val1868Gly)
|
rs201264105
|
0.00012
|
NM_001206927.2(DNAH8):c.8046G>A (p.Met2682Ile)
|
rs145365277
|
0.00012
|
NM_001329943.3(KIAA0586):c.1987C>T (p.Pro663Ser)
|
rs370560098
|
0.00012
|
NM_001364171.2(ODAD1):c.379C>T (p.Arg127Trp)
|
rs772057072
|
0.00012
|
NM_001377.3(DYNC2H1):c.12268G>A (p.Val4090Ile)
|
rs376545196
|
0.00012
|
NM_001377.3(DYNC2H1):c.6697T>C (p.Ser2233Pro)
|
rs375988913
|
0.00012
|
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr)
|
rs368957150
|
0.00012
|
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser)
|
rs187887110
|
0.00012
|
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val)
|
rs377282102
|
0.00012
|
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala)
|
rs199649563
|
0.00012
|
NM_001378615.1(CC2D2A):c.2597A>G (p.Asn866Ser)
|
rs199563573
|
0.00012
|
NM_001382391.1(CSPP1):c.1325A>G (p.His442Arg)
|
rs373927950
|
0.00012
|
NM_003611.3(OFD1):c.1399C>T (p.Arg467Cys)
|
rs140561107
|
0.00012
|
NM_012144.4(DNAI1):c.48+3A>G
|
rs771238788
|
0.00012
|
NM_012210.4(TRIM32):c.313C>T (p.Arg105Trp)
|
rs201130164
|
0.00012
|
NM_012210.4(TRIM32):c.863C>A (p.Pro288His)
|
rs367574371
|
0.00012
|
NM_014956.5(CEP164):c.1865G>A (p.Arg622Gln)
|
rs183392900
|
0.00012
|
NM_014956.5(CEP164):c.3392T>C (p.Leu1131Pro)
|
rs1317065002
|
0.00012
|
NM_015512.5(DNAH1):c.640G>A (p.Asp214Asn)
|
rs373792628
|
0.00012
|
NM_015512.5(DNAH1):c.8456G>A (p.Gly2819Glu)
|
rs774716987
|
0.00012
|
NM_015631.6(TCTN3):c.878A>G (p.Gln293Arg)
|
rs141231095
|
0.00012
|
NM_015662.3(IFT172):c.449G>C (p.Gly150Ala)
|
rs368343162
|
0.00012
|
NM_015662.3(IFT172):c.5069-3C>T
|
rs370108416
|
0.00012
|
NM_017950.4(CCDC40):c.1076G>A (p.Arg359His)
|
rs373746597
|
0.00012
|
NM_017950.4(CCDC40):c.2584C>T (p.Arg862Trp)
|
rs201858385
|
0.00012
|
NM_019892.6(INPP5E):c.65C>G (p.Thr22Arg)
|
rs556184252
|
0.00012
|
NM_024649.5(BBS1):c.1313C>G (p.Thr438Arg)
|
rs199711874
|
0.00012
|
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)
|
rs727503854
|
0.00012
|
NM_025114.4(CEP290):c.31A>G (p.Met11Val)
|
rs185939120
|
0.00012
|
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile)
|
rs372557655
|
0.00012
|
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys)
|
rs367580207
|
0.00012
|
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)
|
rs183071230
|
0.00012
|
NM_025114.4(CEP290):c.904A>G (p.Ile302Val)
|
rs764495570
|
0.00012
|
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)
|
rs138314289
|
0.00012
|
NM_033028.5(BBS4):c.24+6C>T
|
rs1427489194
|
0.00012
|
NM_033124.5(CCDC65):c.482T>C (p.Ile161Thr)
|
rs148688058
|
0.00012
|
NM_080860.4(RSPH1):c.653C>T (p.Ala218Val)
|
rs373119665
|
0.00012
|
NM_144596.4(TTC8):c.1063A>T (p.Met355Leu)
|
rs140163629
|
0.00012
|
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp)
|
rs137852928
|
0.00012
|
NM_170784.3(MKKS):c.1457G>A (p.Cys486Tyr)
|
rs375952682
|
0.00012
|
NM_170784.3(MKKS):c.311A>G (p.Glu104Gly)
|
rs747959135
|
0.00012
|
NM_178452.6(DNAAF1):c.812G>A (p.Arg271Gln)
|
rs140751779
|
0.00012
|
NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys)
|
rs202027034
|
0.00012
|
NM_198525.3(KIF7):c.2143A>G (p.Ile715Val)
|
rs774683334
|
0.00012
|
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala)
|
rs781571059
|
0.00011
|
NM_001044385.3(TMEM237):c.989G>A (p.Ser330Asn)
|
rs143081480
|
0.00011
|
NM_001082538.3(TCTN1):c.1015G>C (p.Val339Leu)
|
rs201990420
|
0.00011
|
NM_001082538.3(TCTN1):c.1622C>T (p.Ser541Phe)
|
rs752953090
|
0.00011
|
NM_001199397.3(NEK1):c.1278G>A (p.Leu426=)
|
rs752431764
|
0.00011
|
NM_001199397.3(NEK1):c.2500A>T (p.Ser834Cys)
|
rs187263822
|
0.00011
|
NM_001206927.2(DNAH8):c.12974G>A (p.Arg4325Gln)
|
rs368532934
|
0.00011
|
NM_001206927.2(DNAH8):c.13417A>C (p.Ile4473Leu)
|
rs200416428
|
0.00011
|
NM_001206927.2(DNAH8):c.2960C>A (p.Ala987Asp)
|
rs148508759
|
0.00011
|
NM_001206927.2(DNAH8):c.3538G>A (p.Ala1180Thr)
|
rs201917454
|
0.00011
|
NM_001206927.2(DNAH8):c.4609C>T (p.Arg1537Cys)
|
rs78877915
|
0.00011
|
NM_001206927.2(DNAH8):c.6142A>G (p.Thr2048Ala)
|
rs772890319
|
0.00011
|
NM_001206927.2(DNAH8):c.8801T>C (p.Val2934Ala)
|
rs1031668402
|
0.00011
|
NM_001277115.2(DNAH11):c.7980A>C (p.Gln2660His)
|
rs752284064
|
0.00011
|
NM_001329943.3(KIAA0586):c.1393C>T (p.Pro465Ser)
|
rs376681702
|
0.00011
|
NM_001329943.3(KIAA0586):c.2077A>G (p.Ile693Val)
|
rs200735064
|
0.00011
|
NM_001329943.3(KIAA0586):c.215C>T (p.Thr72Ile)
|
rs201393625
|
0.00011
|
NM_001364171.2(ODAD1):c.1198C>T (p.Arg400Cys)
|
rs149354918
|
0.00011
|
NM_001364171.2(ODAD1):c.1324C>T (p.Arg442Trp)
|
rs138500585
|
0.00011
|
NM_001364171.2(ODAD1):c.1360C>T (p.Arg454Trp)
|
rs199822195
|
0.00011
|
NM_001364171.2(ODAD1):c.1799G>C (p.Gly600Ala)
|
rs200124335
|
0.00011
|
NM_001364171.2(ODAD1):c.626G>A (p.Ser209Asn)
|
rs367799104
|
0.00011
|
NM_001369.3(DNAH5):c.6444+4T>C
|
rs377638408
|
0.00011
|
NM_001375405.1(CEP120):c.1760A>T (p.Gln587Leu)
|
rs147430819
|
0.00011
|
NM_001375405.1(CEP120):c.2235G>C (p.Gln745His)
|
rs201600892
|
0.00011
|
NM_001375405.1(CEP120):c.316A>C (p.Lys106Gln)
|
rs568081479
|
0.00011
|
NM_001377.3(DYNC2H1):c.10025G>A (p.Arg3342Gln)
|
rs755136217
|
0.00011
|
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu)
|
rs774784126
|
0.00011
|
NM_001378454.1(ALMS1):c.12114+4C>T
|
rs373191489
|
0.00011
|
NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys)
|
rs201874056
|
0.00011
|
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met)
|
rs199682595
|
0.00011
|
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu)
|
rs187132771
|
0.00011
|
NM_001378454.1(ALMS1):c.4886G>A (p.Arg1629Gln)
|
rs142917664
|
0.00011
|
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly)
|
rs367728446
|
0.00011
|
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg)
|
rs150331660
|
0.00011
|
NM_001378454.1(ALMS1):c.8530C>T (p.Leu2844Phe)
|
rs920714816
|
0.00011
|
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr)
|
rs375038066
|
0.00011
|
NM_001382391.1(CSPP1):c.2987A>C (p.Asp996Ala)
|
rs371720718
|
0.00011
|
NM_001382391.1(CSPP1):c.3430C>T (p.Arg1144Ter)
|
rs200346372
|
0.00011
|
NM_001382391.1(CSPP1):c.3655C>G (p.Gln1219Glu)
|
rs368550470
|
0.00011
|
NM_001382391.1(CSPP1):c.653G>A (p.Arg218Gln)
|
rs371211802
|
0.00011
|
NM_006642.5(SDCCAG8):c.1750G>A (p.Glu584Lys)
|
rs150961792
|
0.00011
|
NM_014704.4(CEP104):c.1120-5T>A
|
rs200748628
|
0.00011
|
NM_014704.4(CEP104):c.2737G>A (p.Gly913Arg)
|
rs201733773
|
0.00011
|
NM_014714.4(IFT140):c.1364C>T (p.Ala455Val)
|
rs201949058
|
0.00011
|
NM_014714.4(IFT140):c.3383G>A (p.Arg1128His)
|
rs147661907
|
0.00011
|
NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr)
|
rs751861503
|
0.00011
|
NM_014714.4(IFT140):c.634+6G>C
|
rs368229365
|
0.00011
|
NM_014956.5(CEP164):c.1313G>A (p.Arg438Gln)
|
rs137987733
|
0.00011
|
NM_014956.5(CEP164):c.4130C>T (p.Pro1377Leu)
|
rs146456836
|
0.00011
|
NM_015272.5(RPGRIP1L):c.1081A>G (p.Asn361Asp)
|
rs376720589
|
0.00011
|
NM_015272.5(RPGRIP1L):c.1261G>A (p.Val421Ile)
|
rs138383101
|
0.00011
|
NM_015272.5(RPGRIP1L):c.2304G>A (p.Ser768=)
|
rs770503381
|
0.00011
|
NM_015272.5(RPGRIP1L):c.3430C>G (p.Gln1144Glu)
|
rs1050777749
|
0.00011
|
NM_015512.5(DNAH1):c.1462A>C (p.Lys488Gln)
|
rs200741498
|
0.00011
|
NM_015512.5(DNAH1):c.5131T>C (p.Tyr1711His)
|
rs377018837
|
0.00011
|
NM_015512.5(DNAH1):c.6095C>T (p.Pro2032Leu)
|
rs199808005
|
0.00011
|
NM_015512.5(DNAH1):c.647A>G (p.Asn216Ser)
|
rs376828415
|
0.00011
|
NM_015512.5(DNAH1):c.7099G>A (p.Ala2367Thr)
|
rs199920193
|
0.00011
|
NM_015512.5(DNAH1):c.767G>A (p.Arg256Gln)
|
rs200017350
|
0.00011
|
NM_015662.3(IFT172):c.146G>A (p.Arg49Gln)
|
rs151097967
|
0.00011
|
NM_015662.3(IFT172):c.1991A>G (p.Asn664Ser)
|
rs199631887
|
0.00011
|
NM_015662.3(IFT172):c.2159G>A (p.Arg720His)
|
rs202089120
|
0.00011
|
NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser)
|
rs369780709
|
0.00011
|
NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys)
|
rs746340772
|
0.00011
|
NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys)
|
rs373098915
|
0.00011
|
NM_015681.6(B9D1):c.151T>C (p.Ser51Pro)
|
rs546359789
|
0.00011
|
NM_015681.6(B9D1):c.485G>A (p.Arg162His)
|
rs142346405
|
0.00011
|
NM_015896.4(ZMYND10):c.1171C>T (p.Arg391Trp)
|
rs150467144
|
0.00011
|
NM_015896.4(ZMYND10):c.1291G>A (p.Val431Ile)
|
rs201258677
|
0.00011
|
NM_015896.4(ZMYND10):c.689G>A (p.Arg230Gln)
|
rs146875767
|
0.00011
|
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)
|
rs200322968
|
0.00011
|
NM_015910.7(WDPCP):c.728C>T (p.Pro243Leu)
|
rs368933340
|
0.00011
|
NM_016616.5(NME8):c.569C>G (p.Thr190Arg)
|
rs149877831
|
0.00011
|
NM_017802.4(DNAAF5):c.1813G>A (p.Val605Ile)
|
rs572892623
|
0.00011
|
NM_018051.5(DYNC2I1):c.1654A>G (p.Arg552Gly)
|
rs771427947
|
0.00011
|
NM_018051.5(DYNC2I1):c.2825C>T (p.Ala942Val)
|
rs371334329
|
0.00011
|
NM_018051.5(DYNC2I1):c.3112C>T (p.Arg1038Trp)
|
rs758415572
|
0.00011
|
NM_018051.5(DYNC2I1):c.389G>A (p.Arg130Gln)
|
rs374765133
|
0.00011
|
NM_018051.5(DYNC2I1):c.990+3A>T
|
rs374608321
|
0.00011
|
NM_018076.5(ODAD2):c.2119C>T (p.Arg707Trp)
|
rs145133998
|
0.00011
|
NM_018076.5(ODAD2):c.2258G>A (p.Arg753Gln)
|
rs760325470
|
0.00011
|
NM_018718.3(CEP41):c.107T>C (p.Met36Thr)
|
rs368178632
|
0.00011
|
NM_019892.6(INPP5E):c.586G>T (p.Ala196Ser)
|
rs376043087
|
0.00011
|
NM_020779.4(WDR35):c.2164C>T (p.Arg722Cys)
|
rs374073530
|
0.00011
|
NM_020779.4(WDR35):c.2447G>A (p.Arg816Gln)
|
rs539243373
|
0.00011
|
NM_020800.3(IFT80):c.1204C>T (p.Arg402Cys)
|
rs190990464
|
0.00011
|
NM_020800.3(IFT80):c.36G>A (p.Lys12=)
|
rs764052178
|
0.00011
|
NM_023036.6(DNAI2):c.319G>A (p.Val107Ile)
|
rs200358267
|
0.00011
|
NM_024649.5(BBS1):c.1777G>A (p.Ala593Thr)
|
rs760237505
|
0.00011
|
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys)
|
rs142297424
|
0.00011
|
NM_024809.5(TCTN2):c.1234+5C>G
|
rs201382614
|
0.00011
|
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys)
|
rs779666225
|
0.00011
|
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
|
rs188502327
|
0.00011
|
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe)
|
rs11831931
|
0.00011
|
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg)
|
rs377000187
|
0.00011
|
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu)
|
rs368428115
|
0.00011
|
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)
|
rs371833544
|
0.00011
|
NM_025132.4(WDR19):c.1796C>T (p.Ala599Val)
|
rs193273000
|
0.00011
|
NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys)
|
rs548534755
|
0.00011
|
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly)
|
rs201051877
|
0.00011
|
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala)
|
rs202232525
|
0.00011
|
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp)
|
rs560253338
|
0.00011
|
NM_031924.8(RSPH3):c.859+5G>A
|
rs545361014
|
0.00011
|
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs)
|
rs748758201
|
0.00011
|
NM_147127.5(EVC2):c.1822C>T (p.Arg608Cys)
|
rs371876802
|
0.00011
|
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln)
|
rs145786485
|
0.00011
|
NM_147127.5(EVC2):c.809C>T (p.Ser270Leu)
|
rs369153874
|
0.00011
|
NM_152618.3(BBS12):c.344T>C (p.Val115Ala)
|
rs144179606
|
0.00011
|
NM_153717.3(EVC):c.2341G>A (p.Val781Met)
|
rs370514515
|
0.00011
|
NM_153717.3(EVC):c.299A>G (p.Asp100Gly)
|
rs1282571678
|
0.00011
|
NM_170784.3(MKKS):c.1129A>G (p.Asn377Asp)
|
rs754207459
|
0.00011
|
NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu)
|
rs375084239
|
0.00011
|
NM_176824.3(BBS7):c.917T>C (p.Val306Ala)
|
rs373378747
|
0.00011
|
NM_178452.6(DNAAF1):c.604A>G (p.Met202Val)
|
rs150672056
|
0.00011
|
NM_181426.2(CCDC39):c.2558G>A (p.Arg853His)
|
rs147183244
|
0.00011
|
NM_181426.2(CCDC39):c.641G>A (p.Arg214His)
|
rs368553676
|
0.00011
|
NM_198428.3(BBS9):c.1112T>C (p.Val371Ala)
|
rs138436479
|
0.00011
|
NM_198428.3(BBS9):c.1487C>T (p.Thr496Ile)
|
rs139303948
|
0.00011
|
NM_198428.3(BBS9):c.862A>G (p.Ser288Gly)
|
rs146770174
|
0.00011
|
NM_198428.3(BBS9):c.928A>G (p.Asn310Asp)
|
rs369647403
|
0.00011
|
NM_198525.3(KIF7):c.1297C>A (p.Pro433Thr)
|
rs932033181
|
0.00011
|
NM_198525.3(KIF7):c.2219A>G (p.Gln740Arg)
|
rs147679100
|
0.00011
|
NM_198525.3(KIF7):c.2364G>C (p.Arg788Ser)
|
rs117123311
|
0.00011
|
NM_198525.3(KIF7):c.2482G>A (p.Val828Met)
|
rs143915145
|
0.00011
|
NM_198525.3(KIF7):c.919A>T (p.Thr307Ser)
|
rs954983148
|
0.00011
|
NM_001034853.2(RPGR):c.1059+363G>A
|
rs1410177435
|
0.00010
|
NM_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr)
|
rs576982977
|
0.00010
|
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser)
|
rs563492919
|
0.00010
|
NM_001174150.2(ARL13B):c.1090A>G (p.Ile364Val)
|
rs200908149
|
0.00010
|
NM_001206927.2(DNAH8):c.13904T>C (p.Met4635Thr)
|
rs372017066
|
0.00010
|
NM_001206927.2(DNAH8):c.3392C>A (p.Thr1131Asn)
|
rs145492929
|
0.00010
|
NM_001206927.2(DNAH8):c.6328T>C (p.Ser2110Pro)
|
rs201462063
|
0.00010
|
NM_001329943.3(KIAA0586):c.1080G>C (p.Arg360Ser)
|
rs200094677
|
0.00010
|
NM_001329943.3(KIAA0586):c.2903T>C (p.Val968Ala)
|
rs753972803
|
0.00010
|
NM_001329943.3(KIAA0586):c.36A>C (p.Lys12Asn)
|
rs372215354
|
0.00010
|
NM_001364171.2(ODAD1):c.1175C>T (p.Ser392Leu)
|
rs201978870
|
0.00010
|
NM_001364171.2(ODAD1):c.1822C>T (p.His608Tyr)
|
rs201978305
|
0.00010
|
NM_001375405.1(CEP120):c.827G>A (p.Gly276Glu)
|
rs201955087
|
0.00010
|
NM_001377.3(DYNC2H1):c.12551G>A (p.Arg4184His)
|
rs200913028
|
0.00010
|
NM_001377.3(DYNC2H1):c.2342A>G (p.Tyr781Cys)
|
rs370392119
|
0.00010
|
NM_001377.3(DYNC2H1):c.3539C>T (p.Thr1180Ile)
|
rs368273539
|
0.00010
|
NM_001377.3(DYNC2H1):c.8585G>A (p.Cys2862Tyr)
|
rs368447956
|
0.00010
|
NM_001377.3(DYNC2H1):c.8782A>C (p.Lys2928Gln)
|
rs190819700
|
0.00010
|
NM_001378454.1(ALMS1):c.11033G>A (p.Arg3678Gln)
|
rs371007945
|
0.00010
|
NM_001378454.1(ALMS1):c.12086T>C (p.Leu4029Pro)
|
rs372910832
|
0.00010
|
NM_001378454.1(ALMS1):c.1433-3T>C
|
rs367710998
|
0.00010
|
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro)
|
rs767987501
|
0.00010
|
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr)
|
rs199572177
|
0.00010
|
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser)
|
rs531648685
|
0.00010
|
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln)
|
rs372620412
|
0.00010
|
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00010
|
NM_001378454.1(ALMS1):c.5849T>C (p.Ile1950Thr)
|
rs773754661
|
0.00010
|
NM_001378454.1(ALMS1):c.9173A>G (p.Lys3058Arg)
|
rs149329669
|
0.00010
|
NM_001378615.1(CC2D2A):c.3503G>A (p.Arg1168His)
|
rs375344007
|
0.00010
|
NM_001378615.1(CC2D2A):c.4659G>C (p.Gln1553His)
|
rs375083236
|
0.00010
|
NM_001382391.1(CSPP1):c.2238C>A (p.Phe746Leu)
|
rs372716023
|
0.00010
|
NM_001382391.1(CSPP1):c.2751A>C (p.Arg917Ser)
|
rs201720914
|
0.00010
|
NM_003114.5(SPAG1):c.1580G>A (p.Arg527Gln)
|
rs150325048
|
0.00010
|
NM_003114.5(SPAG1):c.1848C>T (p.Gly616=)
|
rs148562317
|
0.00010
|
NM_003114.5(SPAG1):c.2633A>C (p.Lys878Thr)
|
rs144327310
|
0.00010
|
NM_003611.3(OFD1):c.1128A>C (p.Lys376Asn)
|
rs758883184
|
0.00010
|
NM_006642.5(SDCCAG8):c.1552A>G (p.Arg518Gly)
|
rs770306576
|
0.00010
|
NM_014714.4(IFT140):c.128T>C (p.Val43Ala)
|
rs372148301
|
0.00010
|
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp)
|
rs749099710
|
0.00010
|
NM_014714.4(IFT140):c.2987A>G (p.Asn996Ser)
|
rs145645423
|
0.00010
|
NM_014714.4(IFT140):c.823G>A (p.Gly275Arg)
|
rs146163533
|
0.00010
|
NM_014956.5(CEP164):c.1934+3C>T
|
rs369584565
|
0.00010
|
NM_015512.5(DNAH1):c.2554C>T (p.Arg852Cys)
|
rs546135785
|
0.00010
|
NM_015512.5(DNAH1):c.6454G>T (p.Asp2152Tyr)
|
rs375219203
|
0.00010
|
NM_015512.5(DNAH1):c.9363+4C>T
|
rs369421920
|
0.00010
|
NM_015631.6(TCTN3):c.1705G>A (p.Asp569Asn)
|
rs780308423
|
0.00010
|
NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys)
|
rs529914770
|
0.00010
|
NM_015662.3(IFT172):c.4909G>A (p.Val1637Ile)
|
rs571686284
|
0.00010
|
NM_015662.3(IFT172):c.679C>T (p.His227Tyr)
|
rs142857050
|
0.00010
|
NM_015896.4(ZMYND10):c.1163C>T (p.Ala388Val)
|
rs761329132
|
0.00010
|
NM_015910.7(WDPCP):c.2179G>A (p.Gly727Ser)
|
rs369786224
|
0.00010
|
NM_017777.4(MKS1):c.1435C>T (p.Arg479Cys)
|
rs769442220
|
0.00010
|
NM_017802.4(DNAAF5):c.436G>T (p.Val146Leu)
|
rs745787736
|
0.00010
|
NM_017950.4(CCDC40):c.1843C>T (p.Arg615Cys)
|
rs763700391
|
0.00010
|
NM_017950.4(CCDC40):c.257A>G (p.Tyr86Cys)
|
rs202220442
|
0.00010
|
NM_017950.4(CCDC40):c.2996G>A (p.Arg999His)
|
rs201293301
|
0.00010
|
NM_017950.4(CCDC40):c.661G>A (p.Val221Ile)
|
rs371890970
|
0.00010
|
NM_018076.5(ODAD2):c.1916G>A (p.Arg639Gln)
|
rs148908705
|
0.00010
|
NM_018718.3(CEP41):c.145+6del
|
rs782483563
|
0.00010
|
NM_018718.3(CEP41):c.422+6C>T
|
rs199678365
|
0.00010
|
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe)
|
rs782137799
|
0.00010
|
NM_019892.6(INPP5E):c.1457G>A (p.Arg486His)
|
rs367592401
|
0.00010
|
NM_023036.6(DNAI2):c.1318G>C (p.Glu440Gln)
|
rs182986650
|
0.00010
|
NM_023036.6(DNAI2):c.196C>T (p.Arg66Trp)
|
rs371226659
|
0.00010
|
NM_024649.5(BBS1):c.756G>C (p.Glu252Asp)
|
rs149920346
|
0.00010
|
NM_024753.5(TTC21B):c.437T>G (p.Val146Gly)
|
rs200916501
|
0.00010
|
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)
|
rs200830750
|
0.00010
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val)
|
rs192495145
|
0.00010
|
NM_052844.4(DYNC2I2):c.392C>T (p.Ala131Val)
|
rs766392626
|
0.00010
|
NM_080860.4(RSPH1):c.11T>G (p.Leu4Arg)
|
rs144240955
|
0.00010
|
NM_080860.4(RSPH1):c.471C>G (p.His157Gln)
|
rs61758127
|
0.00010
|
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp)
|
rs755412340
|
0.00010
|
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr)
|
rs540856754
|
0.00010
|
NM_144596.4(TTC8):c.484G>C (p.Gly162Arg)
|
rs753150258
|
0.00010
|
NM_145038.5(DRC1):c.1390C>T (p.Arg464Cys)
|
rs377330459
|
0.00010
|
NM_145045.5(ODAD3):c.1111A>G (p.Thr371Ala)
|
rs546138389
|
0.00010
|
NM_145045.5(ODAD3):c.1606G>A (p.Glu536Lys)
|
rs201176850
|
0.00010
|
NM_145045.5(ODAD3):c.922G>A (p.Ala308Thr)
|
rs201899388
|
0.00010
|
NM_147127.5(EVC2):c.1009T>A (p.Trp337Arg)
|
rs201555920
|
0.00010
|
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser)
|
rs199596849
|
0.00010
|
NM_152732.5(RSPH9):c.415C>T (p.Arg139Cys)
|
rs368519003
|
0.00010
|
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr)
|
rs145645536
|
0.00010
|
NM_153717.3(EVC):c.677C>T (p.Thr226Met)
|
rs201583621
|
0.00010
|
NM_170784.3(MKKS):c.926G>A (p.Arg309His)
|
rs199939179
|
0.00010
|
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser)
|
rs370656021
|
0.00010
|
NM_178452.6(DNAAF1):c.1816A>G (p.Ile606Val)
|
rs146607878
|
0.00010
|
NM_198428.3(BBS9):c.436G>A (p.Val146Ile)
|
rs372412756
|
0.00010
|
NM_198525.3(KIF7):c.2420C>T (p.Thr807Met)
|
rs757175418
|
0.00010
|
NM_198525.3(KIF7):c.3585G>C (p.Lys1195Asn)
|
rs200782729
|
0.00010
|
NM_001010892.3(RSPH4A):c.1334C>T (p.Pro445Leu)
|
rs139677155
|
0.00009
|
NM_001010892.3(RSPH4A):c.2021A>G (p.Glu674Gly)
|
rs368369580
|
0.00009
|
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=)
|
rs375077045
|
0.00009
|
NM_001077418.3(TMEM231):c.90C>T (p.Ala30=)
|
rs758878104
|
0.00009
|
NM_001134831.2(AHI1):c.3588+1G>A
|
rs533296867
|
0.00009
|
NM_001174150.2(ARL13B):c.830A>C (p.Asn277Thr)
|
rs142635985
|
0.00009
|
NM_001206927.2(DNAH8):c.1082A>C (p.Glu361Ala)
|
rs376791268
|
0.00009
|
NM_001206927.2(DNAH8):c.1163G>T (p.Gly388Val)
|
rs141326848
|
0.00009
|
NM_001206927.2(DNAH8):c.12641C>T (p.Thr4214Met)
|
rs750394180
|
0.00009
|
NM_001206927.2(DNAH8):c.13282G>C (p.Gly4428Arg)
|
rs755556134
|
0.00009
|
NM_001206927.2(DNAH8):c.13790A>G (p.Asn4597Ser)
|
rs774818998
|
0.00009
|
NM_001206927.2(DNAH8):c.13835G>T (p.Gly4612Val)
|
rs371583300
|
0.00009
|
NM_001206927.2(DNAH8):c.13954T>C (p.Phe4652Leu)
|
rs149938578
|
0.00009
|
NM_001206927.2(DNAH8):c.142T>C (p.Ser48Pro)
|
rs776744908
|
0.00009
|
NM_001206927.2(DNAH8):c.3129T>A (p.Asp1043Glu)
|
rs573755164
|
0.00009
|
NM_001206927.2(DNAH8):c.3571C>G (p.Pro1191Ala)
|
rs150925022
|
0.00009
|
NM_001206927.2(DNAH8):c.6434A>G (p.Gln2145Arg)
|
rs780541458
|
0.00009
|
NM_001206927.2(DNAH8):c.656T>C (p.Met219Thr)
|
rs761327493
|
0.00009
|
NM_001206927.2(DNAH8):c.718C>T (p.Arg240Cys)
|
rs145773185
|
0.00009
|
NM_001206927.2(DNAH8):c.7366T>G (p.Cys2456Gly)
|
rs144169004
|
0.00009
|
NM_001206927.2(DNAH8):c.8870G>A (p.Arg2957His)
|
rs763438877
|
0.00009
|
NM_001277115.2(DNAH11):c.11498C>T (p.Ala3833Val)
|
rs373626566
|
0.00009
|
NM_001329943.3(KIAA0586):c.3841C>T (p.His1281Tyr)
|
rs371424977
|
0.00009
|
NM_001329943.3(KIAA0586):c.411-1359T>G
|
rs1051790402
|
0.00009
|
NM_001364171.2(ODAD1):c.1157G>A (p.Arg386His)
|
rs200697095
|
0.00009
|
NM_001364171.2(ODAD1):c.1187G>A (p.Arg396His)
|
rs139618333
|
0.00009
|
NM_001364171.2(ODAD1):c.1423G>A (p.Asp475Asn)
|
rs199600077
|
0.00009
|
NM_001369.3(DNAH5):c.12413T>G (p.Phe4138Cys)
|
rs757393675
|
0.00009
|
NM_001369.3(DNAH5):c.4286A>G (p.Tyr1429Cys)
|
rs141052175
|
0.00009
|
NM_001375405.1(CEP120):c.1333A>T (p.Ile445Phe)
|
rs753763495
|
0.00009
|
NM_001377.3(DYNC2H1):c.12025A>C (p.Met4009Leu)
|
rs763169398
|
0.00009
|
NM_001377.3(DYNC2H1):c.2936G>A (p.Arg979Gln)
|
rs201810959
|
0.00009
|
NM_001377.3(DYNC2H1):c.5780C>T (p.Pro1927Leu)
|
rs367585820
|
0.00009
|
NM_001377.3(DYNC2H1):c.7736G>A (p.Arg2579Gln)
|
rs201854166
|
0.00009
|
NM_001377.3(DYNC2H1):c.9655G>A (p.Glu3219Lys)
|
rs376974461
|
0.00009
|
NM_001378454.1(ALMS1):c.1061C>T (p.Thr354Ile)
|
rs370726988
|
0.00009
|
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile)
|
rs549757247
|
0.00009
|
NM_001378454.1(ALMS1):c.12119C>T (p.Ser4040Leu)
|
rs763327026
|
0.00009
|
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg)
|
rs202114540
|
0.00009
|
NM_001378454.1(ALMS1):c.3477G>T (p.Leu1159Phe)
|
rs575644902
|
0.00009
|
NM_001378454.1(ALMS1):c.3892C>A (p.Gln1298Lys)
|
rs770645262
|
0.00009
|
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp)
|
rs376812264
|
0.00009
|
NM_001378454.1(ALMS1):c.4199A>G (p.His1400Arg)
|
rs371101065
|
0.00009
|
NM_001378454.1(ALMS1):c.4948C>T (p.Pro1650Ser)
|
rs765233016
|
0.00009
|
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met)
|
rs375838474
|
0.00009
|
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu)
|
rs914898490
|
0.00009
|
NM_001378615.1(CC2D2A):c.1484G>A (p.Arg495His)
|
rs373906628
|
0.00009
|
NM_001378615.1(CC2D2A):c.1766G>A (p.Arg589Lys)
|
rs763477416
|
0.00009
|
NM_001378615.1(CC2D2A):c.2437G>A (p.Gly813Arg)
|
rs375167917
|
0.00009
|
NM_001378615.1(CC2D2A):c.2624C>T (p.Ser875Leu)
|
rs200904521
|
0.00009
|
NM_001382391.1(CSPP1):c.3157C>T (p.Pro1053Ser)
|
rs371681100
|
0.00009
|
NM_001382391.1(CSPP1):c.3188A>G (p.Asn1063Ser)
|
rs201884732
|
0.00009
|
NM_001382391.1(CSPP1):c.3431G>A (p.Arg1144Gln)
|
rs763390190
|
0.00009
|
NM_003114.5(SPAG1):c.1954A>T (p.Ile652Phe)
|
rs143621160
|
0.00009
|
NM_003114.5(SPAG1):c.496G>A (p.Val166Met)
|
rs201503190
|
0.00009
|
NM_006642.5(SDCCAG8):c.160A>T (p.Thr54Ser)
|
rs761616528
|
0.00009
|
NM_006642.5(SDCCAG8):c.220+3G>A
|
rs370361491
|
0.00009
|
NM_006642.5(SDCCAG8):c.244C>T (p.Arg82Cys)
|
rs143447584
|
0.00009
|
NM_006642.5(SDCCAG8):c.784G>C (p.Glu262Gln)
|
rs149038104
|
0.00009
|
NM_006642.5(SDCCAG8):c.832C>T (p.Arg278Cys)
|
rs769004589
|
0.00009
|
NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser)
|
rs200294385
|
0.00009
|
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met)
|
rs201754555
|
0.00009
|
NM_012210.4(TRIM32):c.494G>T (p.Arg165Leu)
|
rs761591526
|
0.00009
|
NM_012210.4(TRIM32):c.979A>G (p.Met327Val)
|
rs373287765
|
0.00009
|
NM_012472.6(DNAAF11):c.27T>G (p.Ile9Met)
|
rs200906172
|
0.00009
|
NM_012472.6(DNAAF11):c.340C>T (p.His114Tyr)
|
rs759237359
|
0.00009
|
NM_012472.6(DNAAF11):c.976T>A (p.Tyr326Asn)
|
rs200458059
|
0.00009
|
NM_012472.6(DNAAF11):c.988T>A (p.Ser330Thr)
|
rs199759512
|
0.00009
|
NM_012472.6(DNAAF11):c.997G>A (p.Asp333Asn)
|
rs375060512
|
0.00009
|
NM_014704.4(CEP104):c.1297G>A (p.Asp433Asn)
|
rs149976444
|
0.00009
|
NM_014704.4(CEP104):c.272G>A (p.Arg91Gln)
|
rs200411994
|
0.00009
|
NM_014714.4(IFT140):c.633C>T (p.Asp211=)
|
rs201319525
|
0.00009
|
NM_014956.5(CEP164):c.2704G>A (p.Val902Met)
|
rs144279354
|
0.00009
|
NM_014956.5(CEP164):c.3234_3236del (p.Ser1081del)
|
rs749738679
|
0.00009
|
NM_014956.5(CEP164):c.3910C>T (p.Arg1304Trp)
|
rs139444171
|
0.00009
|
NM_014956.5(CEP164):c.4025C>T (p.Pro1342Leu)
|
rs531161184
|
0.00009
|
NM_014956.5(CEP164):c.4330C>G (p.Leu1444Val)
|
rs143919649
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1333A>G (p.Ile445Val)
|
rs140876280
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1419A>C (p.Lys473Asn)
|
rs769686672
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys)
|
rs149781516
|
0.00009
|
NM_015272.5(RPGRIP1L):c.1946G>A (p.Arg649Gln)
|
rs560144848
|
0.00009
|
NM_015272.5(RPGRIP1L):c.2105A>G (p.Glu702Gly)
|
rs193282093
|
0.00009
|
NM_015272.5(RPGRIP1L):c.2173A>G (p.Asn725Asp)
|
rs373201651
|
0.00009
|
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met)
|
rs367845452
|
0.00009
|
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)
|
rs183419371
|
0.00009
|
NM_015512.5(DNAH1):c.1145G>A (p.Arg382His)
|
rs377099238
|
0.00009
|
NM_015512.5(DNAH1):c.3436A>T (p.Ser1146Cys)
|
rs61734641
|
0.00009
|
NM_015512.5(DNAH1):c.374G>A (p.Arg125Gln)
|
rs373203216
|
0.00009
|
NM_015512.5(DNAH1):c.5162C>A (p.Ser1721Tyr)
|
rs375094563
|
0.00009
|
NM_015512.5(DNAH1):c.5518+3G>A
|
rs202242747
|
0.00009
|
NM_015512.5(DNAH1):c.9287G>A (p.Arg3096Gln)
|
rs750422567
|
0.00009
|
NM_015512.5(DNAH1):c.953T>G (p.Leu318Arg)
|
rs370393988
|
0.00009
|
NM_015512.5(DNAH1):c.9625G>A (p.Ala3209Thr)
|
rs377382857
|
0.00009
|
NM_015662.3(IFT172):c.145C>T (p.Arg49Trp)
|
rs141043554
|
0.00009
|
NM_015662.3(IFT172):c.2122G>A (p.Val708Met)
|
rs140506322
|
0.00009
|
NM_015662.3(IFT172):c.2131G>A (p.Ala711Thr)
|
rs144620711
|
0.00009
|
NM_015662.3(IFT172):c.247A>G (p.Ile83Val)
|
rs142227350
|
0.00009
|
NM_015662.3(IFT172):c.3538C>T (p.His1180Tyr)
|
rs746868013
|
0.00009
|
NM_015662.3(IFT172):c.3673C>T (p.Arg1225Trp)
|
rs148305851
|
0.00009
|
NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser)
|
rs763238244
|
0.00009
|
NM_015662.3(IFT172):c.5128G>A (p.Asp1710Asn)
|
rs542662514
|
0.00009
|
NM_015910.7(WDPCP):c.1055T>A (p.Leu352Gln)
|
rs373387599
|
0.00009
|
NM_016464.5(TMEM138):c.128+3G>T
|
rs754691659
|
0.00009
|
NM_017777.4(MKS1):c.1597C>T (p.Arg533Cys)
|
rs745946583
|
0.00009
|
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu)
|
rs771585740
|
0.00009
|
NM_017777.4(MKS1):c.858+6C>T
|
rs368774719
|
0.00009
|
NM_017802.4(DNAAF5):c.1031G>A (p.Arg344His)
|
rs200002909
|
0.00009
|
NM_017802.4(DNAAF5):c.247C>T (p.Arg83Cys)
|
rs1368397849
|
0.00009
|
NM_017802.4(DNAAF5):c.502C>G (p.Leu168Val)
|
rs900496106
|
0.00009
|
NM_017950.4(CCDC40):c.1105G>A (p.Ala369Thr)
|
rs371071557
|
0.00009
|
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile)
|
rs746632559
|
0.00009
|
NM_018051.5(DYNC2I1):c.2905G>A (p.Val969Met)
|
rs377727599
|
0.00009
|
NM_018076.5(ODAD2):c.800G>T (p.Gly267Val)
|
rs183878259
|
0.00009
|
NM_018076.5(ODAD2):c.803G>T (p.Gly268Val)
|
rs372616728
|
0.00009
|
NM_018139.3(DNAAF2):c.1468A>G (p.Ser490Gly)
|
rs367597118
|
0.00009
|
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg)
|
rs201834429
|
0.00009
|
NM_020800.3(IFT80):c.1052C>T (p.Thr351Met)
|
rs199778285
|
0.00009
|
NM_020800.3(IFT80):c.707C>T (p.Ala236Val)
|
rs774857269
|
0.00009
|
NM_021147.5(CCNO):c.845T>C (p.Leu282Pro)
|
rs753791521
|
0.00009
|
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp)
|
rs767395683
|
0.00009
|
NM_024685.4(BBS10):c.1381G>A (p.Gly461Ser)
|
rs767717128
|
0.00009
|
NM_024753.5(TTC21B):c.1195T>C (p.Tyr399His)
|
rs187985767
|
0.00009
|
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala)
|
rs778812789
|
0.00009
|
NM_024753.5(TTC21B):c.2606A>G (p.Gln869Arg)
|
rs137926033
|
0.00009
|
NM_024753.5(TTC21B):c.3673C>T (p.Arg1225Cys)
|
rs377393152
|
0.00009
|
NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys)
|
rs369121651
|
0.00009
|
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu)
|
rs372687837
|
0.00009
|
NM_024809.5(TCTN2):c.1723G>A (p.Ala575Thr)
|
rs202157566
|
0.00009
|
NM_024809.5(TCTN2):c.631G>A (p.Val211Ile)
|
rs544183268
|
0.00009
|
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr)
|
rs369104382
|
0.00009
|
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val)
|
rs760625332
|
0.00009
|
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr)
|
rs563367049
|
0.00009
|
NM_031924.8(RSPH3):c.502T>C (p.Phe168Leu)
|
rs377691194
|
0.00009
|
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys)
|
rs144696430
|
0.00009
|
NM_080860.4(RSPH1):c.559C>T (p.Arg187Cys)
|
rs150576105
|
0.00009
|
NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys)
|
rs114401181
|
0.00009
|
NM_145038.5(DRC1):c.1868A>G (p.Asn623Ser)
|
rs573043964
|
0.00009
|
NM_145038.5(DRC1):c.617G>A (p.Arg206Gln)
|
rs141540461
|
0.00009
|
NM_145045.5(ODAD3):c.1035G>C (p.Glu345Asp)
|
rs1053136709
|
0.00009
|
NM_152384.3(BBS5):c.824C>T (p.Pro275Leu)
|
rs376275481
|
0.00009
|
NM_152618.3(BBS12):c.1262G>A (p.Arg421His)
|
rs778351153
|
0.00009
|
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys)
|
rs376531209
|
0.00009
|
NM_152618.3(BBS12):c.542C>G (p.Ser181Cys)
|
rs765425168
|
0.00009
|
NM_152618.3(BBS12):c.67G>A (p.Ala23Thr)
|
rs371153231
|
0.00009
|
NM_153704.6(TMEM67):c.46C>T (p.Leu16Phe)
|
rs367722582
|
0.00009
|
NM_153717.3(EVC):c.1744C>G (p.Leu582Val)
|
rs367863826
|
0.00009
|
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp)
|
rs200479973
|
0.00009
|
NM_153717.3(EVC):c.2392G>A (p.Gly798Arg)
|
rs142738089
|
0.00009
|
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu)
|
rs780968816
|
0.00009
|
NM_153717.3(EVC):c.899A>C (p.Glu300Ala)
|
rs149529742
|
0.00009
|
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)
|
rs141224967
|
0.00009
|
NM_176824.3(BBS7):c.191C>T (p.Pro64Leu)
|
rs747055521
|
0.00009
|
NM_176824.3(BBS7):c.839G>A (p.Arg280Gln)
|
rs749970544
|
0.00009
|
NM_178452.6(DNAAF1):c.1172C>T (p.Pro391Leu)
|
rs767204860
|
0.00009
|
NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala)
|
rs201963508
|
0.00009
|
NM_198428.3(BBS9):c.2509A>G (p.Met837Val)
|
rs771310981
|
0.00009
|
NM_198525.3(KIF7):c.2548C>T (p.Arg850Trp)
|
rs200210231
|
0.00009
|
NM_198525.3(KIF7):c.3428A>G (p.Glu1143Gly)
|
rs755353975
|
0.00009
|
NM_198525.3(KIF7):c.3973C>T (p.Arg1325Trp)
|
rs777140020
|
0.00009
|
NM_213607.3(CCDC103):c.355C>T (p.Arg119Cys)
|
rs755188855
|
0.00009
|
NM_213607.3(CCDC103):c.359A>G (p.Tyr120Cys)
|
rs149858795
|
0.00009
|
NM_001010892.3(RSPH4A):c.1274G>A (p.Gly425Asp)
|
rs371882096
|
0.00008
|
NM_001199397.3(NEK1):c.1080+4T>C
|
rs757527637
|
0.00008
|
NM_001206927.2(DNAH8):c.12697A>T (p.Asn4233Tyr)
|
rs368787070
|
0.00008
|
NM_001206927.2(DNAH8):c.2285C>T (p.Pro762Leu)
|
rs199804814
|
0.00008
|
NM_001206927.2(DNAH8):c.3299T>C (p.Ile1100Thr)
|
rs764655921
|
0.00008
|
NM_001206927.2(DNAH8):c.3851C>T (p.Pro1284Leu)
|
rs562900966
|
0.00008
|
NM_001206927.2(DNAH8):c.7081G>T (p.Ala2361Ser)
|
rs375336311
|
0.00008
|
NM_001206927.2(DNAH8):c.9025C>A (p.Leu3009Met)
|
rs199779645
|
0.00008
|
NM_001256715.2(DNAAF3):c.-81G>A
|
rs201101258
|
0.00008
|
NM_001256715.2(DNAAF3):c.419T>C (p.Leu140Pro)
|
rs747667670
|
0.00008
|
NM_001329943.3(KIAA0586):c.2831A>T (p.Glu944Val)
|
rs181400417
|
0.00008
|
NM_001329943.3(KIAA0586):c.3047C>T (p.Thr1016Ile)
|
rs372259984
|
0.00008
|
NM_001329943.3(KIAA0586):c.347A>G (p.Asp116Gly)
|
rs376113173
|
0.00008
|
NM_001329943.3(KIAA0586):c.4162G>A (p.Val1388Ile)
|
rs369067010
|
0.00008
|
NM_001329943.3(KIAA0586):c.4315T>G (p.Phe1439Val)
|
rs200405048
|
0.00008
|
NM_001369.3(DNAH5):c.56C>T (p.Thr19Met)
|
rs757712771
|
0.00008
|
NM_001375405.1(CEP120):c.612+5G>A
|
rs762000520
|
0.00008
|
NM_001377.3(DYNC2H1):c.12389A>G (p.Lys4130Arg)
|
rs368043505
|
0.00008
|
NM_001377.3(DYNC2H1):c.7115G>A (p.Ser2372Asn)
|
rs539366280
|
0.00008
|
NM_001377.3(DYNC2H1):c.722A>T (p.Asp241Val)
|
rs183159969
|
0.00008
|
NM_001377.3(DYNC2H1):c.7597C>T (p.Arg2533Cys)
|
rs754889986
|
0.00008
|
NM_001378454.1(ALMS1):c.8357C>G (p.Thr2786Ser)
|
rs565373304
|
0.00008
|
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys)
|
rs201208516
|
0.00008
|
NM_001382391.1(CSPP1):c.2245G>A (p.Glu749Lys)
|
rs770075138
|
0.00008
|
NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln)
|
rs367949127
|
0.00008
|
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp)
|
rs756423026
|
0.00008
|
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)
|
rs797045846
|
0.00008
|
NM_003611.3(OFD1):c.679A>G (p.Ile227Val)
|
rs748477774
|
0.00008
|
NM_006642.5(SDCCAG8):c.1123C>A (p.Leu375Ile)
|
rs745634199
|
0.00008
|
NM_006642.5(SDCCAG8):c.430T>G (p.Ser144Ala)
|
rs749010399
|
0.00008
|
NM_012210.4(TRIM32):c.1012G>A (p.Ala338Thr)
|
rs141806013
|
0.00008
|
NM_014714.4(IFT140):c.1646C>T (p.Ser549Phe)
|
rs751137317
|
0.00008
|
NM_014714.4(IFT140):c.1649G>A (p.Arg550Gln)
|
rs762399912
|
0.00008
|
NM_014714.4(IFT140):c.2067+4C>T
|
rs111785408
|
0.00008
|
NM_014714.4(IFT140):c.2543G>A (p.Arg848His)
|
rs746743309
|
0.00008
|
NM_014714.4(IFT140):c.3947A>T (p.Lys1316Met)
|
rs1288732698
|
0.00008
|
NM_014956.5(CEP164):c.1009A>G (p.Ser337Gly)
|
rs151204404
|
0.00008
|
NM_014956.5(CEP164):c.1322A>G (p.Gln441Arg)
|
rs138536460
|
0.00008
|
NM_014956.5(CEP164):c.2858G>A (p.Arg953Gln)
|
rs184333345
|
0.00008
|
NM_014956.5(CEP164):c.457C>T (p.Leu153Phe)
|
rs375118998
|
0.00008
|
NM_015272.5(RPGRIP1L):c.2390G>T (p.Arg797Ile)
|
rs892392514
|
0.00008
|
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser)
|
rs202124667
|
0.00008
|
NM_015272.5(RPGRIP1L):c.389A>G (p.Lys130Arg)
|
rs765642149
|
0.00008
|
NM_015512.5(DNAH1):c.10318G>A (p.Asp3440Asn)
|
rs376059846
|
0.00008
|
NM_015512.5(DNAH1):c.1135A>G (p.Asn379Asp)
|
rs372166382
|
0.00008
|
NM_015512.5(DNAH1):c.847C>T (p.Pro283Ser)
|
rs371481904
|
0.00008
|
NM_015631.6(TCTN3):c.885G>A (p.Met295Ile)
|
rs201493612
|
0.00008
|
NM_015662.3(IFT172):c.1331G>A (p.Arg444His)
|
rs751965696
|
0.00008
|
NM_015662.3(IFT172):c.1829G>A (p.Arg610Gln)
|
rs144890293
|
0.00008
|
NM_015910.7(WDPCP):c.1888G>A (p.Asp630Asn)
|
rs760742250
|
0.00008
|
NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser)
|
rs765923597
|
0.00008
|
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu)
|
rs773659373
|
0.00008
|
NM_016616.5(NME8):c.1657C>T (p.Arg553Ter)
|
rs145721687
|
0.00008
|
NM_017802.4(DNAAF5):c.2452G>A (p.Gly818Arg)
|
rs376897902
|
0.00008
|
NM_017802.4(DNAAF5):c.382C>T (p.Pro128Ser)
|
rs998645747
|
0.00008
|
NM_017950.4(CCDC40):c.1591G>A (p.Asp531Asn)
|
rs758243927
|
0.00008
|
NM_017950.4(CCDC40):c.2999G>A (p.Arg1000Gln)
|
rs369512832
|
0.00008
|
NM_017950.4(CCDC40):c.763G>C (p.Glu255Gln)
|
rs763892619
|
0.00008
|
NM_018076.5(ODAD2):c.1386+5G>A
|
rs188691804
|
0.00008
|
NM_018076.5(ODAD2):c.2120G>A (p.Arg707Gln)
|
rs139517333
|
0.00008
|
NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe)
|
rs187863107
|
0.00008
|
NM_018139.3(DNAAF2):c.416A>G (p.Tyr139Cys)
|
rs761527467
|
0.00008
|
NM_018139.3(DNAAF2):c.847C>G (p.Leu283Val)
|
rs201544590
|
0.00008
|
NM_019892.6(INPP5E):c.799G>A (p.Asp267Asn)
|
rs750943687
|
0.00008
|
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys)
|
rs201860485
|
0.00008
|
NM_020800.3(IFT80):c.192G>T (p.Trp64Cys)
|
rs151263345
|
0.00008
|
NM_020800.3(IFT80):c.691C>T (p.Pro231Ser)
|
rs149447674
|
0.00008
|
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg)
|
rs144833282
|
0.00008
|
NM_024685.4(BBS10):c.1028G>A (p.Arg343Gln)
|
rs201335653
|
0.00008
|
NM_024753.5(TTC21B):c.234A>G (p.Ile78Met)
|
rs139885689
|
0.00008
|
NM_024753.5(TTC21B):c.795+3A>G
|
rs753275145
|
0.00008
|
NM_024809.5(TCTN2):c.1552G>A (p.Val518Ile)
|
rs147469128
|
0.00008
|
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg)
|
rs757356455
|
0.00008
|
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg)
|
rs755933899
|
0.00008
|
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly)
|
rs772648931
|
0.00008
|
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr)
|
rs769705837
|
0.00008
|
NM_025132.4(WDR19):c.1127T>C (p.Val376Ala)
|
rs773816730
|
0.00008
|
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser)
|
rs772687020
|
0.00008
|
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys)
|
rs779635441
|
0.00008
|
NM_031885.5(BBS2):c.1381G>A (p.Val461Met)
|
rs377000980
|
0.00008
|
NM_031885.5(BBS2):c.1786G>A (p.Val596Met)
|
rs375828912
|
0.00008
|
NM_031885.5(BBS2):c.470C>T (p.Thr157Met)
|
rs376483931
|
0.00008
|
NM_031924.8(RSPH3):c.791C>T (p.Ala264Val)
|
rs150750790
|
0.00008
|
NM_052844.4(DYNC2I2):c.856G>A (p.Val286Met)
|
rs139569061
|
0.00008
|
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys)
|
rs370111364
|
0.00008
|
NM_147127.5(EVC2):c.1456C>T (p.Arg486Cys)
|
rs780919705
|
0.00008
|
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu)
|
rs145758016
|
0.00008
|
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg)
|
rs200743695
|
0.00008
|
NM_152384.3(BBS5):c.816+12A>G
|
rs764194396
|
0.00008
|
NM_152732.5(RSPH9):c.98T>C (p.Met33Thr)
|
rs374043705
|
0.00008
|
NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val)
|
rs200145042
|
0.00008
|
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln)
|
rs752020764
|
0.00008
|
NM_170784.3(MKKS):c.1246C>A (p.His416Asn)
|
rs148800011
|
0.00008
|
NM_170784.3(MKKS):c.1294A>T (p.Ile432Phe)
|
rs374485160
|
0.00008
|
NM_170784.3(MKKS):c.629T>C (p.Ile210Thr)
|
rs201243884
|
0.00008
|
NM_176824.3(BBS7):c.2108A>G (p.Tyr703Cys)
|
rs375825705
|
0.00008
|
NM_178452.6(DNAAF1):c.1991C>G (p.Thr664Ser)
|
rs139714259
|
0.00008
|
NM_178452.6(DNAAF1):c.2155T>C (p.Phe719Leu)
|
rs201263027
|
0.00008
|
NM_198525.3(KIF7):c.2695G>C (p.Val899Leu)
|
rs139174072
|
0.00008
|
NM_198525.3(KIF7):c.3224C>T (p.Ser1075Leu)
|
rs149378390
|
0.00008
|
NM_198525.3(KIF7):c.3871G>A (p.Glu1291Lys)
|
rs751191936
|
0.00008
|
NM_213607.3(CCDC103):c.301A>G (p.Thr101Ala)
|
rs924433215
|
0.00008
|
NM_001010892.3(RSPH4A):c.1970A>G (p.Tyr657Cys)
|
rs1230428971
|
0.00007
|
NM_001082538.3(TCTN1):c.607A>G (p.Thr203Ala)
|
rs1483033032
|
0.00007
|
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His)
|
rs372894716
|
0.00007
|
NM_001134831.2(AHI1):c.2551T>G (p.Leu851Val)
|
rs373971733
|
0.00007
|
NM_001174150.2(ARL13B):c.896A>C (p.Glu299Ala)
|
rs144961534
|
0.00007
|
NM_001190787.3(MCIDAS):c.364G>C (p.Val122Leu)
|
rs1051677967
|
0.00007
|
NM_001199397.3(NEK1):c.1140+4G>A
|
rs369300755
|
0.00007
|
NM_001199397.3(NEK1):c.1942A>G (p.Lys648Glu)
|
rs371562840
|
0.00007
|
NM_001206927.2(DNAH8):c.12416A>G (p.Asn4139Ser)
|
rs775711015
|
0.00007
|
NM_001206927.2(DNAH8):c.13962T>G (p.Ile4654Met)
|
rs200859037
|
0.00007
|
NM_001206927.2(DNAH8):c.3130_3132del (p.Lys1044del)
|
rs763247724
|
0.00007
|
NM_001206927.2(DNAH8):c.3289A>G (p.Ile1097Val)
|
rs147941001
|
0.00007
|
NM_001206927.2(DNAH8):c.3481G>A (p.Val1161Met)
|
rs201712851
|
0.00007
|
NM_001206927.2(DNAH8):c.9368G>A (p.Arg3123Gln)
|
rs146541069
|
0.00007
|
NM_001277115.2(DNAH11):c.13175C>T (p.Thr4392Met)
|
rs181603431
|
0.00007
|
NM_001329943.3(KIAA0586):c.1846G>T (p.Gly616Cys)
|
rs766453312
|
0.00007
|
NM_001329943.3(KIAA0586):c.2943T>G (p.Ile981Met)
|
rs370778483
|
0.00007
|
NM_001364171.2(ODAD1):c.2047A>G (p.Arg683Gly)
|
rs754221492
|
0.00007
|
NM_001377.3(DYNC2H1):c.11287G>A (p.Ala3763Thr)
|
rs780426783
|
0.00007
|
NM_001377.3(DYNC2H1):c.11745G>T (p.Trp3915Cys)
|
rs549891589
|
0.00007
|
NM_001377.3(DYNC2H1):c.7675G>A (p.Asp2559Asn)
|
rs368867624
|
0.00007
|
NM_001378454.1(ALMS1):c.12005G>A (p.Arg4002Gln)
|
rs375923289
|
0.00007
|
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln)
|
rs376602261
|
0.00007
|
NM_001378454.1(ALMS1):c.1339-3A>C
|
rs572922738
|
0.00007
|
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe)
|
rs555552377
|
0.00007
|
NM_001378454.1(ALMS1):c.3965A>G (p.Gln1322Arg)
|
rs1251705223
|
0.00007
|
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)
|
rs868269804
|
0.00007
|
NM_001378454.1(ALMS1):c.9449G>A (p.Ser3150Asn)
|
rs34029285
|
0.00007
|
NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu)
|
rs376632767
|
0.00007
|
NM_001378615.1(CC2D2A):c.379C>T (p.Arg127Trp)
|
rs145945939
|
0.00007
|
NM_001378615.1(CC2D2A):c.4314+6T>C
|
rs764971650
|
0.00007
|
NM_001378615.1(CC2D2A):c.4541G>A (p.Arg1514His)
|
rs368191427
|
0.00007
|
NM_001378615.1(CC2D2A):c.950G>T (p.Gly317Val)
|
rs775632403
|
0.00007
|
NM_001382391.1(CSPP1):c.1775C>G (p.Pro592Arg)
|
rs767318500
|
0.00007
|
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu)
|
rs752648207
|
0.00007
|
NM_001382391.1(CSPP1):c.244C>T (p.Arg82Trp)
|
rs1024300760
|
0.00007
|
NM_001382391.1(CSPP1):c.2480A>G (p.Tyr827Cys)
|
rs185130908
|
0.00007
|
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile)
|
rs200546493
|
0.00007
|
NM_001382391.1(CSPP1):c.3457C>T (p.Pro1153Ser)
|
rs181079660
|
0.00007
|
NM_001382391.1(CSPP1):c.422A>G (p.Gln141Arg)
|
rs775754786
|
0.00007
|
NM_001382391.1(CSPP1):c.958A>G (p.Met320Val)
|
rs775759544
|
0.00007
|
NM_001481.3(GAS8):c.1297G>A (p.Asp433Asn)
|
rs150016330
|
0.00007
|
NM_001481.3(GAS8):c.131G>A (p.Arg44His)
|
rs200219366
|
0.00007
|
NM_003114.5(SPAG1):c.985G>T (p.Ala329Ser)
|
rs543044004
|
0.00007
|
NM_006642.5(SDCCAG8):c.1115C>T (p.Ala372Val)
|
rs74701277
|
0.00007
|
NM_006642.5(SDCCAG8):c.1513C>G (p.Gln505Glu)
|
rs980791573
|
0.00007
|
NM_012144.4(DNAI1):c.1291C>G (p.His431Asp)
|
rs756877115
|
0.00007
|
NM_012144.4(DNAI1):c.1822C>A (p.His608Asn)
|
rs148762102
|
0.00007
|
NM_014714.4(IFT140):c.2067+5G>A
|
rs370629233
|
0.00007
|
NM_014714.4(IFT140):c.2079G>C (p.Leu693Phe)
|
rs137966471
|
0.00007
|
NM_014714.4(IFT140):c.2773G>A (p.Glu925Lys)
|
rs368922367
|
0.00007
|
NM_014714.4(IFT140):c.2786C>T (p.Thr929Met)
|
rs757585192
|
0.00007
|
NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys)
|
rs758535401
|
0.00007
|
NM_014956.5(CEP164):c.3268T>C (p.Tyr1090His)
|
rs140470210
|
0.00007
|
NM_014956.5(CEP164):c.3736C>T (p.Arg1246Trp)
|
rs369446103
|
0.00007
|
NM_014956.5(CEP164):c.4091T>A (p.Phe1364Tyr)
|
rs143693029
|
0.00007
|
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His)
|
rs369451829
|
0.00007
|
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala)
|
rs750235612
|
0.00007
|
NM_015272.5(RPGRIP1L):c.2914G>A (p.Asp972Asn)
|
rs138777811
|
0.00007
|
NM_015512.5(DNAH1):c.11074G>A (p.Glu3692Lys)
|
rs758895180
|
0.00007
|
NM_015512.5(DNAH1):c.12157G>A (p.Val4053Ile)
|
rs200708752
|
0.00007
|
NM_015512.5(DNAH1):c.1720C>T (p.Arg574Cys)
|
rs759820286
|
0.00007
|
NM_015512.5(DNAH1):c.2106+5G>A
|
rs747761276
|
0.00007
|
NM_015512.5(DNAH1):c.6343G>A (p.Val2115Met)
|
rs559404563
|
0.00007
|
NM_015512.5(DNAH1):c.7064C>T (p.Pro2355Leu)
|
rs561335239
|
0.00007
|
NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val)
|
rs375708075
|
0.00007
|
NM_015662.3(IFT172):c.2668G>A (p.Ala890Thr)
|
rs202216329
|
0.00007
|
NM_015662.3(IFT172):c.623A>G (p.Asn208Ser)
|
rs771817287
|
0.00007
|
NM_015910.7(WDPCP):c.842G>A (p.Arg281His)
|
rs3738877
|
0.00007
|
NM_017777.4(MKS1):c.1298C>T (p.Thr433Met)
|
rs755841031
|
0.00007
|
NM_017777.4(MKS1):c.994G>A (p.Val332Ile)
|
rs775391594
|
0.00007
|
NM_017802.4(DNAAF5):c.1450A>G (p.Ile484Val)
|
rs139727224
|
0.00007
|
NM_017802.4(DNAAF5):c.1588G>A (p.Ala530Thr)
|
rs200272840
|
0.00007
|
NM_017802.4(DNAAF5):c.1996G>A (p.Ala666Thr)
|
rs750935190
|
0.00007
|
NM_017802.4(DNAAF5):c.2425A>G (p.Ile809Val)
|
rs563633198
|
0.00007
|
NM_017802.4(DNAAF5):c.280G>A (p.Ala94Thr)
|
rs1048255936
|
0.00007
|
NM_017802.4(DNAAF5):c.412T>G (p.Cys138Gly)
|
rs989778924
|
0.00007
|
NM_017802.4(DNAAF5):c.448G>C (p.Gly150Arg)
|
rs1462634117
|
0.00007
|
NM_017802.4(DNAAF5):c.642G>T (p.Gln214His)
|
rs374875482
|
0.00007
|
NM_017802.4(DNAAF5):c.780+6T>A
|
rs903588155
|
0.00007
|
NM_017950.4(CCDC40):c.1210A>G (p.Met404Val)
|
rs774090634
|
0.00007
|
NM_017950.4(CCDC40):c.2104G>A (p.Val702Met)
|
rs748948064
|
0.00007
|
NM_017950.4(CCDC40):c.2423T>C (p.Met808Thr)
|
rs780626544
|
0.00007
|
NM_018051.5(DYNC2I1):c.2245A>T (p.Thr749Ser)
|
rs755638947
|
0.00007
|
NM_018076.5(ODAD2):c.1319G>A (p.Arg440His)
|
rs762541691
|
0.00007
|
NM_018076.5(ODAD2):c.1591A>G (p.Ile531Val)
|
rs747804167
|
0.00007
|
NM_018076.5(ODAD2):c.2980G>A (p.Ala994Thr)
|
rs369022423
|
0.00007
|
NM_018139.3(DNAAF2):c.1719A>G (p.Gln573=)
|
rs370699646
|
0.00007
|
NM_018139.3(DNAAF2):c.2191G>C (p.Glu731Gln)
|
rs777882844
|
0.00007
|
NM_018139.3(DNAAF2):c.2440G>T (p.Val814Leu)
|
rs749029870
|
0.00007
|
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly)
|
rs781835148
|
0.00007
|
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr)
|
rs200837258
|
0.00007
|
NM_019892.6(INPP5E):c.1652C>T (p.Thr551Met)
|
rs75342839
|
0.00007
|
NM_019892.6(INPP5E):c.532G>A (p.Val178Met)
|
rs376003129
|
0.00007
|
NM_020779.4(WDR35):c.2230G>A (p.Glu744Lys)
|
rs1420842472
|
0.00007
|
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu)
|
rs774768083
|
0.00007
|
NM_023036.6(DNAI2):c.284G>A (p.Arg95His)
|
rs201521142
|
0.00007
|
NM_024649.5(BBS1):c.1243G>A (p.Val415Met)
|
rs150444177
|
0.00007
|
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr)
|
rs375609644
|
0.00007
|
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val)
|
rs1289111857
|
0.00007
|
NM_025132.4(WDR19):c.1391G>A (p.Arg464His)
|
rs369201153
|
0.00007
|
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg)
|
rs756321262
|
0.00007
|
NM_052844.4(DYNC2I2):c.981+4C>T
|
rs375985561
|
0.00007
|
NM_080860.4(RSPH1):c.692C>T (p.Thr231Met)
|
rs778123315
|
0.00007
|
NM_144596.4(TTC8):c.308G>T (p.Gly103Val)
|
rs140710339
|
0.00007
|
NM_145038.5(DRC1):c.1358C>G (p.Ser453Cys)
|
rs780100027
|
0.00007
|
NM_145038.5(DRC1):c.1775C>T (p.Thr592Met)
|
rs144885892
|
0.00007
|
NM_145045.5(ODAD3):c.1345A>G (p.Lys449Glu)
|
rs371948361
|
0.00007
|
NM_145045.5(ODAD3):c.607G>C (p.Ala203Pro)
|
rs755774292
|
0.00007
|
NM_147127.5(EVC2):c.1470+3A>T
|
rs370769794
|
0.00007
|
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn)
|
rs180747811
|
0.00007
|
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser)
|
rs369075832
|
0.00007
|
NM_153704.6(TMEM67):c.2162C>G (p.Pro721Arg)
|
rs757105976
|
0.00007
|
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly)
|
rs540660500
|
0.00007
|
NM_178452.6(DNAAF1):c.1957G>A (p.Glu653Lys)
|
rs201034372
|
0.00007
|
NM_178452.6(DNAAF1):c.2080G>A (p.Ala694Thr)
|
rs376164700
|
0.00007
|
NM_178452.6(DNAAF1):c.603G>C (p.Gln201His)
|
rs1169328891
|
0.00007
|
NM_198428.3(BBS9):c.2033G>A (p.Arg678His)
|
rs200654248
|
0.00007
|
NM_198428.3(BBS9):c.921T>G (p.Asn307Lys)
|
rs769663141
|
0.00007
|
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)
|
rs553968087
|
0.00007
|
NM_198525.3(KIF7):c.1583A>G (p.Gln528Arg)
|
rs142282670
|
0.00007
|
NM_198525.3(KIF7):c.2527C>T (p.Arg843Cys)
|
rs374366786
|
0.00007
|
NM_198525.3(KIF7):c.3976C>T (p.Arg1326Trp)
|
rs372979006
|
0.00007
|
NM_001010892.3(RSPH4A):c.1247C>T (p.Ala416Val)
|
rs61738662
|
0.00006
|
NM_001010892.3(RSPH4A):c.1748T>C (p.Ile583Thr)
|
rs141807210
|
0.00006
|
NM_001010892.3(RSPH4A):c.268C>A (p.Pro90Thr)
|
rs530756069
|
0.00006
|
NM_001010892.3(RSPH4A):c.397G>A (p.Asp133Asn)
|
rs976414886
|
0.00006
|
NM_001044385.3(TMEM237):c.1160-1G>A
|
rs747465681
|
0.00006
|
NM_001077418.3(TMEM231):c.131G>A (p.Arg44Gln)
|
rs368402335
|
0.00006
|
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met)
|
rs762041003
|
0.00006
|
NM_001077418.3(TMEM231):c.582+6A>G
|
rs376300743
|
0.00006
|
NM_001082538.3(TCTN1):c.1540A>G (p.Ile514Val)
|
rs371539069
|
0.00006
|
NM_001082538.3(TCTN1):c.8C>T (p.Pro3Leu)
|
rs772390489
|
0.00006
|
NM_001082538.3(TCTN1):c.901C>T (p.Arg301Trp)
|
rs755328291
|
0.00006
|
NM_001134831.2(AHI1):c.232A>G (p.Thr78Ala)
|
rs754609881
|
0.00006
|
NM_001134831.2(AHI1):c.2561G>T (p.Cys854Phe)
|
rs745507530
|
0.00006
|
NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly)
|
rs367640472
|
0.00006
|
NM_001134831.2(AHI1):c.3217C>A (p.His1073Asn)
|
rs374945386
|
0.00006
|
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln)
|
rs200368187
|
0.00006
|
NM_001134831.2(AHI1):c.37A>G (p.Lys13Glu)
|
rs763715513
|
0.00006
|
NM_001134831.2(AHI1):c.74A>G (p.Asp25Gly)
|
rs778792339
|
0.00006
|
NM_001134831.2(AHI1):c.853A>G (p.Met285Val)
|
rs200389118
|
0.00006
|
NM_001174150.2(ARL13B):c.1073G>A (p.Arg358Gln)
|
rs369942016
|
0.00006
|
NM_001199397.3(NEK1):c.2896A>G (p.Arg966Gly)
|
rs369918838
|
0.00006
|
NM_001199397.3(NEK1):c.3437G>A (p.Arg1146Lys)
|
rs751475605
|
0.00006
|
NM_001199397.3(NEK1):c.695G>A (p.Arg232His)
|
rs772747361
|
0.00006
|
NM_001206927.2(DNAH8):c.10418C>G (p.Thr3473Ser)
|
rs182442615
|
0.00006
|
NM_001206927.2(DNAH8):c.10685C>T (p.Thr3562Met)
|
rs373914023
|
0.00006
|
NM_001206927.2(DNAH8):c.10817C>T (p.Thr3606Met)
|
rs758157645
|
0.00006
|
NM_001206927.2(DNAH8):c.11902G>A (p.Gly3968Ser)
|
rs533107744
|
0.00006
|
NM_001206927.2(DNAH8):c.12958T>C (p.Ser4320Pro)
|
rs765743748
|
0.00006
|
NM_001206927.2(DNAH8):c.3377G>A (p.Arg1126His)
|
rs776311330
|
0.00006
|
NM_001206927.2(DNAH8):c.5224G>A (p.Asp1742Asn)
|
rs199737918
|
0.00006
|
NM_001206927.2(DNAH8):c.5542G>A (p.Val1848Ile)
|
rs149016705
|
0.00006
|
NM_001206927.2(DNAH8):c.5845A>G (p.Ile1949Val)
|
rs182835785
|
0.00006
|
NM_001206927.2(DNAH8):c.6460G>A (p.Val2154Ile)
|
rs142694922
|
0.00006
|
NM_001206927.2(DNAH8):c.6565A>G (p.Met2189Val)
|
rs757665480
|
0.00006
|
NM_001206927.2(DNAH8):c.7114A>G (p.Met2372Val)
|
rs769036544
|
0.00006
|
NM_001206927.2(DNAH8):c.8752A>G (p.Ile2918Val)
|
rs148193715
|
0.00006
|
NM_001206927.2(DNAH8):c.933A>T (p.Arg311Ser)
|
rs200985360
|
0.00006
|
NM_001256715.2(DNAAF3):c.1330G>A (p.Gly444Arg)
|
rs562819833
|
0.00006
|
NM_001256715.2(DNAAF3):c.391C>T (p.Arg131Cys)
|
rs770679152
|
0.00006
|
NM_001256715.2(DNAAF3):c.86-60A>C
|
rs771361438
|
0.00006
|
NM_001256715.2(DNAAF3):c.890C>T (p.Thr297Met)
|
rs549181425
|
0.00006
|
NM_001277115.2(DNAH11):c.11098G>C (p.Glu3700Gln)
|
rs768652615
|
0.00006
|
NM_001277115.2(DNAH11):c.13407_13415dup (p.Gln4470_Thr4472dup)
|
rs748080467
|
0.00006
|
NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln)
|
rs142258123
|
0.00006
|
NM_001329943.3(KIAA0586):c.1253+3A>G
|
rs762698768
|
0.00006
|
NM_001329943.3(KIAA0586):c.1657G>C (p.Asp553His)
|
rs1214561950
|
0.00006
|
NM_001329943.3(KIAA0586):c.1917T>G (p.Asp639Glu)
|
rs376649351
|
0.00006
|
NM_001329943.3(KIAA0586):c.3031G>A (p.Glu1011Lys)
|
rs755889131
|
0.00006
|
NM_001329943.3(KIAA0586):c.3698C>G (p.Thr1233Ser)
|
rs201702546
|
0.00006
|
NM_001329943.3(KIAA0586):c.3988G>A (p.Glu1330Lys)
|
rs373649439
|
0.00006
|
NM_001329943.3(KIAA0586):c.568G>A (p.Ala190Thr)
|
rs755205238
|
0.00006
|
NM_001329943.3(KIAA0586):c.667C>T (p.Arg223Cys)
|
rs573870218
|
0.00006
|
NM_001329943.3(KIAA0586):c.807+3A>T
|
rs771308299
|
0.00006
|
NM_001329943.3(KIAA0586):c.914T>C (p.Leu305Pro)
|
rs553130671
|
0.00006
|
NM_001329943.3(KIAA0586):c.938A>G (p.Tyr313Cys)
|
rs191232589
|
0.00006
|
NM_001364171.2(ODAD1):c.1016A>G (p.Asn339Ser)
|
rs145222993
|
0.00006
|
NM_001364171.2(ODAD1):c.1640C>T (p.Ala547Val)
|
rs776156161
|
0.00006
|
NM_001364171.2(ODAD1):c.181C>T (p.Arg61Trp)
|
rs767729076
|
0.00006
|
NM_001364171.2(ODAD1):c.276C>G (p.Asn92Lys)
|
rs753389945
|
0.00006
|
NM_001369.3(DNAH5):c.2577+5T>C
|
rs201596289
|
0.00006
|
NM_001369.3(DNAH5):c.6590A>G (p.Asp2197Gly)
|
rs766882502
|
0.00006
|
NM_001369.3(DNAH5):c.8600T>A (p.Ile2867Asn)
|
rs572852817
|
0.00006
|
NM_001369.3(DNAH5):c.8956T>C (p.Tyr2986His)
|
rs369931315
|
0.00006
|
NM_001375405.1(CEP120):c.1721G>A (p.Arg574His)
|
rs367748337
|
0.00006
|
NM_001375405.1(CEP120):c.2122C>G (p.Leu708Val)
|
rs144490830
|
0.00006
|
NM_001375405.1(CEP120):c.409A>G (p.Lys137Glu)
|
rs200983311
|
0.00006
|
NM_001375405.1(CEP120):c.499A>G (p.Ile167Val)
|
rs200059033
|
0.00006
|
NM_001377.3(DYNC2H1):c.12854A>G (p.Asp4285Gly)
|
rs886047583
|
0.00006
|
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His)
|
rs770380730
|
0.00006
|
NM_001377.3(DYNC2H1):c.5821G>C (p.Ala1941Pro)
|
rs368058473
|
0.00006
|
NM_001377.3(DYNC2H1):c.6633+4A>T
|
rs140033218
|
0.00006
|
NM_001377.3(DYNC2H1):c.9349G>A (p.Glu3117Lys)
|
rs200870508
|
0.00006
|
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp)
|
rs573748379
|
0.00006
|
NM_001378454.1(ALMS1):c.10704A>C (p.Arg3568Ser)
|
rs758987316
|
0.00006
|
NM_001378454.1(ALMS1):c.11414G>A (p.Arg3805Gln)
|
rs201646938
|
0.00006
|
NM_001378454.1(ALMS1):c.11968C>G (p.Pro3990Ala)
|
rs189851617
|
0.00006
|
NM_001378454.1(ALMS1):c.11971A>G (p.Ile3991Val)
|
rs368146962
|
0.00006
|
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr)
|
rs757364858
|
0.00006
|
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met)
|
rs375524122
|
0.00006
|
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg)
|
rs371587051
|
0.00006
|
NM_001378454.1(ALMS1):c.1834A>C (p.Thr612Pro)
|
rs775286973
|
0.00006
|
NM_001378454.1(ALMS1):c.2570C>T (p.Ser857Phe)
|
rs538743256
|
0.00006
|
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys)
|
rs371893544
|
0.00006
|
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His)
|
rs181507134
|
0.00006
|
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala)
|
rs772287164
|
0.00006
|
NM_001378454.1(ALMS1):c.3578C>T (p.Ser1193Leu)
|
rs200636395
|
0.00006
|
NM_001378454.1(ALMS1):c.3944C>T (p.Ala1315Val)
|
rs750671777
|
0.00006
|
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr)
|
rs373638043
|
0.00006
|
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys)
|
rs370398704
|
0.00006
|
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg)
|
rs534635095
|
0.00006
|
NM_001378454.1(ALMS1):c.7277G>C (p.Cys2426Ser)
|
rs35649068
|
0.00006
|
NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn)
|
rs1400122858
|
0.00006
|
NM_001378454.1(ALMS1):c.7367T>C (p.Ile2456Thr)
|
rs894421376
|
0.00006
|
NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser)
|
rs368153355
|
0.00006
|
NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp)
|
rs145383239
|
0.00006
|
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr)
|
rs368409205
|
0.00006
|
NM_001378615.1(CC2D2A):c.1466+3G>A
|
rs574767203
|
0.00006
|
NM_001378615.1(CC2D2A):c.1553C>A (p.Ser518Tyr)
|
rs375633207
|
0.00006
|
NM_001378615.1(CC2D2A):c.2542A>C (p.Met848Leu)
|
rs376403848
|
0.00006
|
NM_001378615.1(CC2D2A):c.3176C>A (p.Ala1059Glu)
|
rs200034384
|
0.00006
|
NM_001378615.1(CC2D2A):c.3985G>C (p.Ala1329Pro)
|
rs951039594
|
0.00006
|
NM_001378615.1(CC2D2A):c.4460G>A (p.Arg1487His)
|
rs971832306
|
0.00006
|
NM_001382391.1(CSPP1):c.1043C>A (p.Ser348Tyr)
|
rs374330054
|
0.00006
|
NM_001382391.1(CSPP1):c.1501G>A (p.Ala501Thr)
|
rs533227813
|
0.00006
|
NM_001382391.1(CSPP1):c.2419C>T (p.Arg807Trp)
|
rs757384412
|
0.00006
|
NM_001382391.1(CSPP1):c.2522T>C (p.Ile841Thr)
|
rs376353407
|
0.00006
|
NM_001382391.1(CSPP1):c.2524G>A (p.Gly842Arg)
|
rs371072368
|
0.00006
|
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly)
|
rs374765060
|
0.00006
|
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val)
|
rs553988238
|
0.00006
|
NM_001481.3(GAS8):c.1105C>T (p.Arg369Cys)
|
rs773549442
|
0.00006
|
NM_001481.3(GAS8):c.244C>T (p.Arg82Trp)
|
rs773018940
|
0.00006
|
NM_001481.3(GAS8):c.559G>A (p.Ala187Thr)
|
rs145081247
|
0.00006
|
NM_001481.3(GAS8):c.694G>A (p.Asp232Asn)
|
rs754194491
|
0.00006
|
NM_003114.5(SPAG1):c.1084G>A (p.Gly362Ser)
|
rs755866717
|
0.00006
|
NM_003114.5(SPAG1):c.239C>T (p.Pro80Leu)
|
rs144464217
|
0.00006
|
NM_003114.5(SPAG1):c.2458A>G (p.Lys820Glu)
|
rs369552222
|
0.00006
|
NM_006642.5(SDCCAG8):c.1018G>T (p.Val340Leu)
|
rs1308863502
|
0.00006
|
NM_006642.5(SDCCAG8):c.1022A>C (p.Lys341Thr)
|
rs145984257
|
0.00006
|
NM_006642.5(SDCCAG8):c.1279A>C (p.Lys427Gln)
|
rs375037219
|
0.00006
|
NM_006642.5(SDCCAG8):c.1790C>A (p.Thr597Lys)
|
rs372641187
|
0.00006
|
NM_006642.5(SDCCAG8):c.233A>G (p.Lys78Arg)
|
rs750977682
|
0.00006
|
NM_006642.5(SDCCAG8):c.245G>A (p.Arg82His)
|
rs577345357
|
0.00006
|
NM_006642.5(SDCCAG8):c.283A>G (p.Arg95Gly)
|
rs377564587
|
0.00006
|
NM_012144.4(DNAI1):c.1407G>T (p.Lys469Asn)
|
rs189377425
|
0.00006
|
NM_012144.4(DNAI1):c.341A>G (p.Asp114Gly)
|
rs147909279
|
0.00006
|
NM_012144.4(DNAI1):c.358C>T (p.Arg120Trp)
|
rs766328772
|
0.00006
|
NM_012144.4(DNAI1):c.566C>T (p.Thr189Ile)
|
rs191840487
|
0.00006
|
NM_012210.4(TRIM32):c.1223G>A (p.Arg408His)
|
rs183136193
|
0.00006
|
NM_012210.4(TRIM32):c.1688G>A (p.Arg563His)
|
rs138056275
|
0.00006
|
NM_012210.4(TRIM32):c.480G>A (p.Met160Ile)
|
rs200196832
|
0.00006
|
NM_012210.4(TRIM32):c.524A>G (p.Lys175Arg)
|
rs777911858
|
0.00006
|
NM_012210.4(TRIM32):c.973A>G (p.Met325Val)
|
rs148027625
|
0.00006
|
NM_014704.4(CEP104):c.1583G>C (p.Arg528Thr)
|
rs753327824
|
0.00006
|
NM_014714.4(IFT140):c.1021G>A (p.Ala341Thr)
|
rs200292484
|
0.00006
|
NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln)
|
rs147556035
|
0.00006
|
NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp)
|
rs781160807
|
0.00006
|
NM_014714.4(IFT140):c.1327G>A (p.Asp443Asn)
|
rs538562131
|
0.00006
|
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val)
|
rs748463111
|
0.00006
|
NM_014714.4(IFT140):c.2530G>C (p.Glu844Gln)
|
rs768971224
|
0.00006
|
NM_014714.4(IFT140):c.2944C>T (p.Arg982Trp)
|
rs142342085
|
0.00006
|
NM_014714.4(IFT140):c.2965C>T (p.Arg989Cys)
|
rs147756729
|
0.00006
|
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser)
|
rs756324852
|
0.00006
|
NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly)
|
rs771632573
|
0.00006
|
NM_014956.5(CEP164):c.1717C>A (p.Pro573Thr)
|
rs779345917
|
0.00006
|
NM_014956.5(CEP164):c.203T>C (p.Ile68Thr)
|
rs747800943
|
0.00006
|
NM_014956.5(CEP164):c.2153A>T (p.Asn718Ile)
|
rs369322915
|
0.00006
|
NM_014956.5(CEP164):c.2870A>T (p.Gln957Leu)
|
rs757822725
|
0.00006
|
NM_014956.5(CEP164):c.3314C>T (p.Ala1105Val)
|
rs751866377
|
0.00006
|
NM_014956.5(CEP164):c.3869C>T (p.Pro1290Leu)
|
rs377394847
|
0.00006
|
NM_014956.5(CEP164):c.4106C>T (p.Pro1369Leu)
|
rs148116542
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1280T>C (p.Leu427Pro)
|
rs150099624
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1397T>C (p.Ile466Thr)
|
rs199786347
|
0.00006
|
NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly)
|
rs794727129
|
0.00006
|
NM_015272.5(RPGRIP1L):c.279G>C (p.Glu93Asp)
|
rs762264695
|
0.00006
|
NM_015272.5(RPGRIP1L):c.3446T>A (p.Ile1149Asn)
|
rs766943204
|
0.00006
|
NM_015272.5(RPGRIP1L):c.3544C>G (p.Pro1182Ala)
|
rs61742648
|
0.00006
|
NM_015272.5(RPGRIP1L):c.3832G>A (p.Asp1278Asn)
|
rs370655253
|
0.00006
|
NM_015272.5(RPGRIP1L):c.3857G>T (p.Gly1286Val)
|
rs755820734
|
0.00006
|
NM_015272.5(RPGRIP1L):c.466C>T (p.Arg156Cys)
|
rs527539036
|
0.00006
|
NM_015512.5(DNAH1):c.10804G>A (p.Asp3602Asn)
|
rs377385985
|
0.00006
|
NM_015512.5(DNAH1):c.10976A>G (p.Asn3659Ser)
|
rs376694884
|
0.00006
|
NM_015512.5(DNAH1):c.11152C>T (p.Arg3718Cys)
|
rs759839153
|
0.00006
|
NM_015512.5(DNAH1):c.11362G>A (p.Gly3788Ser)
|
rs376924974
|
0.00006
|
NM_015512.5(DNAH1):c.11743G>A (p.Ala3915Thr)
|
rs372987144
|
0.00006
|
NM_015512.5(DNAH1):c.2564A>G (p.Tyr855Cys)
|
rs182519456
|
0.00006
|
NM_015512.5(DNAH1):c.2980A>G (p.Met994Val)
|
rs746647120
|
0.00006
|
NM_015512.5(DNAH1):c.4447C>T (p.Arg1483Cys)
|
rs367684134
|
0.00006
|
NM_015512.5(DNAH1):c.5498G>A (p.Ser1833Asn)
|
rs189264230
|
0.00006
|
NM_015512.5(DNAH1):c.5978C>T (p.Ala1993Val)
|
rs373242535
|
0.00006
|
NM_015512.5(DNAH1):c.6293G>A (p.Arg2098His)
|
rs373906923
|
0.00006
|
NM_015512.5(DNAH1):c.7294G>C (p.Ala2432Pro)
|
rs546597830
|
0.00006
|
NM_015512.5(DNAH1):c.7690G>A (p.Ala2564Thr)
|
rs61734632
|
0.00006
|
NM_015512.5(DNAH1):c.8596G>A (p.Asp2866Asn)
|
rs748421970
|
0.00006
|
NM_015512.5(DNAH1):c.8633C>T (p.Thr2878Met)
|
rs781146284
|
0.00006
|
NM_015512.5(DNAH1):c.9326G>C (p.Cys3109Ser)
|
rs775151697
|
0.00006
|
NM_015512.5(DNAH1):c.9893C>T (p.Thr3298Met)
|
rs558196088
|
0.00006
|
NM_015631.6(TCTN3):c.1070A>G (p.Gln357Arg)
|
rs151123934
|
0.00006
|
NM_015631.6(TCTN3):c.769C>T (p.Arg257Cys)
|
rs780304630
|
0.00006
|
NM_015631.6(TCTN3):c.970G>A (p.Val324Ile)
|
rs769275482
|
0.00006
|
NM_015662.3(IFT172):c.1445T>G (p.Val482Gly)
|
rs61740250
|
0.00006
|
NM_015662.3(IFT172):c.2522C>T (p.Ala841Val)
|
rs762431558
|
0.00006
|
NM_015662.3(IFT172):c.4284C>G (p.Asp1428Glu)
|
rs199502476
|
0.00006
|
NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr)
|
rs377646246
|
0.00006
|
NM_015662.3(IFT172):c.4408G>A (p.Gly1470Arg)
|
rs146047876
|
0.00006
|
NM_015662.3(IFT172):c.442A>G (p.Ile148Val)
|
rs759861487
|
0.00006
|
NM_015681.6(B9D1):c.131C>T (p.Ala44Val)
|
rs149845104
|
0.00006
|
NM_015681.6(B9D1):c.584G>T (p.Gly195Val)
|
rs758466581
|
0.00006
|
NM_015896.4(ZMYND10):c.485G>A (p.Gly162Glu)
|
rs141261384
|
0.00006
|
NM_015910.7(WDPCP):c.1102C>T (p.Arg368Cys)
|
rs769112221
|
0.00006
|
NM_015910.7(WDPCP):c.739G>A (p.Asp247Asn)
|
rs376249713
|
0.00006
|
NM_016616.5(NME8):c.1341C>A (p.Phe447Leu)
|
rs201867197
|
0.00006
|
NM_016616.5(NME8):c.172G>A (p.Glu58Lys)
|
rs369542497
|
0.00006
|
NM_016616.5(NME8):c.679G>A (p.Val227Ile)
|
rs367666545
|
0.00006
|
NM_016616.5(NME8):c.829T>C (p.Tyr277His)
|
rs138867361
|
0.00006
|
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser)
|
rs928775924
|
0.00006
|
NM_017777.4(MKS1):c.1580A>G (p.Asn527Ser)
|
rs774309110
|
0.00006
|
NM_017777.4(MKS1):c.1607G>A (p.Arg536Gln)
|
rs746283445
|
0.00006
|
NM_017802.4(DNAAF5):c.1246G>A (p.Val416Met)
|
rs775542739
|
0.00006
|
NM_017802.4(DNAAF5):c.1247T>C (p.Val416Ala)
|
rs762606868
|
0.00006
|
NM_017802.4(DNAAF5):c.1598C>T (p.Thr533Ile)
|
rs775678178
|
0.00006
|
NM_017802.4(DNAAF5):c.179C>T (p.Pro60Leu)
|
rs1238011792
|
0.00006
|
NM_017802.4(DNAAF5):c.1976C>T (p.Ala659Val)
|
rs137924231
|
0.00006
|
NM_017802.4(DNAAF5):c.2003G>C (p.Arg668Thr)
|
rs555500022
|
0.00006
|
NM_017802.4(DNAAF5):c.2251C>T (p.Arg751Cys)
|
rs779271163
|
0.00006
|
NM_017802.4(DNAAF5):c.49G>A (p.Glu17Lys)
|
rs987496902
|
0.00006
|
NM_017802.4(DNAAF5):c.500C>G (p.Ala167Gly)
|
rs1391723138
|
0.00006
|
NM_017802.4(DNAAF5):c.623T>C (p.Leu208Pro)
|
rs377581183
|
0.00006
|
NM_017950.4(CCDC40):c.1127C>G (p.Thr376Ser)
|
rs372392201
|
0.00006
|
NM_017950.4(CCDC40):c.113A>G (p.Asp38Gly)
|
rs1060501718
|
0.00006
|
NM_017950.4(CCDC40):c.1292G>A (p.Arg431Gln)
|
rs766914160
|
0.00006
|
NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met)
|
rs376363442
|
0.00006
|
NM_017950.4(CCDC40):c.1990-6A>G
|
rs1055042616
|
0.00006
|
NM_017950.4(CCDC40):c.2068G>A (p.Ala690Thr)
|
rs201907038
|
0.00006
|
NM_017950.4(CCDC40):c.2609G>A (p.Arg870His)
|
rs373717036
|
0.00006
|
NM_018051.5(DYNC2I1):c.2372-3C>T
|
rs373063403
|
0.00006
|
NM_018076.5(ODAD2):c.1189C>T (p.Leu397Phe)
|
rs753807004
|
0.00006
|
NM_018076.5(ODAD2):c.1619T>C (p.Met540Thr)
|
rs199836959
|
0.00006
|
NM_018076.5(ODAD2):c.1922T>C (p.Leu641Pro)
|
rs748101941
|
0.00006
|
NM_018076.5(ODAD2):c.2347T>A (p.Cys783Ser)
|
rs767169905
|
0.00006
|
NM_018076.5(ODAD2):c.2933A>G (p.Asn978Ser)
|
rs149687959
|
0.00006
|
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)
|
rs564625875
|
0.00006
|
NM_018718.3(CEP41):c.407G>A (p.Arg136His)
|
rs546106020
|
0.00006
|
NM_019892.6(INPP5E):c.106_126dup (p.Ala36_Ala42dup)
|
rs1240005643
|
0.00006
|
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile)
|
rs201043370
|
0.00006
|
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val)
|
rs199956627
|
0.00006
|
NM_019892.6(INPP5E):c.311A>T (p.Glu104Val)
|
rs748786705
|
0.00006
|
NM_019892.6(INPP5E):c.392C>T (p.Pro131Leu)
|
rs756921162
|
0.00006
|
NM_019892.6(INPP5E):c.764C>A (p.Ser255Tyr)
|
rs368817877
|
0.00006
|
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln)
|
rs146380332
|
0.00006
|
NM_020779.4(WDR35):c.2644G>A (p.Val882Ile)
|
rs377535267
|
0.00006
|
NM_020779.4(WDR35):c.2930C>T (p.Ala977Val)
|
rs754516323
|
0.00006
|
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser)
|
rs200258619
|
0.00006
|
NM_020779.4(WDR35):c.817T>G (p.Phe273Val)
|
rs370377789
|
0.00006
|
NM_020800.3(IFT80):c.1205G>A (p.Arg402His)
|
rs147955112
|
0.00006
|
NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser)
|
rs373671362
|
0.00006
|
NM_021147.5(CCNO):c.94A>C (p.Ser32Arg)
|
rs373400250
|
0.00006
|
NM_023036.6(DNAI2):c.1000A>G (p.Met334Val)
|
rs779742315
|
0.00006
|
NM_023036.6(DNAI2):c.115G>A (p.Glu39Lys)
|
rs148885547
|
0.00006
|
NM_023036.6(DNAI2):c.1517G>A (p.Arg506Gln)
|
rs758710603
|
0.00006
|
NM_023036.6(DNAI2):c.1552C>T (p.Arg518Trp)
|
rs377582813
|
0.00006
|
NM_023036.6(DNAI2):c.1712C>T (p.Thr571Met)
|
rs373090022
|
0.00006
|
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser)
|
rs755782127
|
0.00006
|
NM_024649.5(BBS1):c.1394G>A (p.Arg465His)
|
rs146072788
|
0.00006
|
NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser)
|
rs369653969
|
0.00006
|
NM_024649.5(BBS1):c.1535G>A (p.Arg512His)
|
rs202205304
|
0.00006
|
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp)
|
rs770105141
|
0.00006
|
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln)
|
rs142648652
|
0.00006
|
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)
|
rs199633103
|
0.00006
|
NM_024649.5(BBS1):c.569A>T (p.Lys190Met)
|
rs778672601
|
0.00006
|
NM_024649.5(BBS1):c.802C>T (p.Arg268Cys)
|
rs760381850
|
0.00006
|
NM_024685.4(BBS10):c.1514C>T (p.Pro505Leu)
|
rs56867176
|
0.00006
|
NM_024753.5(TTC21B):c.1528G>C (p.Ala510Pro)
|
rs200505317
|
0.00006
|
NM_024753.5(TTC21B):c.1538A>G (p.Asn513Ser)
|
rs200137653
|
0.00006
|
NM_024753.5(TTC21B):c.179T>A (p.Phe60Tyr)
|
rs371571631
|
0.00006
|
NM_024753.5(TTC21B):c.2176C>A (p.Leu726Ile)
|
rs762535321
|
0.00006
|
NM_024753.5(TTC21B):c.2230G>C (p.Ala744Pro)
|
rs150783918
|
0.00006
|
NM_024753.5(TTC21B):c.2305A>T (p.Thr769Ser)
|
rs373564710
|
0.00006
|
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln)
|
rs574017249
|
0.00006
|
NM_024753.5(TTC21B):c.272C>A (p.Ala91Asp)
|
rs371376632
|
0.00006
|
NM_024753.5(TTC21B):c.455A>C (p.Asp152Ala)
|
rs145726127
|
0.00006
|
NM_024753.5(TTC21B):c.575A>G (p.Gln192Arg)
|
rs769057187
|
0.00006
|
NM_024753.5(TTC21B):c.667C>G (p.Leu223Val)
|
rs370860586
|
0.00006
|
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro)
|
rs150742619
|
0.00006
|
NM_024809.5(TCTN2):c.1724C>T (p.Ala575Val)
|
rs763649240
|
0.00006
|
NM_024809.5(TCTN2):c.598C>T (p.Arg200Trp)
|
rs371559095
|
0.00006
|
NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr)
|
rs147746146
|
0.00006
|
NM_024809.5(TCTN2):c.910T>C (p.Cys304Arg)
|
rs765523709
|
0.00006
|
NM_025114.4(CEP290):c.2546A>T (p.Asp849Val)
|
rs1313832672
|
0.00006
|
NM_025114.4(CEP290):c.3573+3A>G
|
rs199520739
|
0.00006
|
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys)
|
rs376425111
|
0.00006
|
NM_025114.4(CEP290):c.4411C>T (p.Arg1471Trp)
|
rs771110294
|
0.00006
|
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg)
|
rs199826787
|
0.00006
|
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)
|
rs369451049
|
0.00006
|
NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val)
|
rs376307540
|
0.00006
|
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr)
|
rs201382524
|
0.00006
|
NM_025114.4(CEP290):c.755A>T (p.Lys252Met)
|
rs991079890
|
0.00006
|
NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly)
|
rs371744495
|
0.00006
|
NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser)
|
rs758716599
|
0.00006
|
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr)
|
rs754631759
|
0.00006
|
NM_025132.4(WDR19):c.2292A>T (p.Gln764His)
|
rs1340705825
|
0.00006
|
NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys)
|
rs779337768
|
0.00006
|
NM_025132.4(WDR19):c.3160G>A (p.Ala1054Thr)
|
rs756862143
|
0.00006
|
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser)
|
rs545916111
|
0.00006
|
NM_025132.4(WDR19):c.3383T>C (p.Val1128Ala)
|
rs372799054
|
0.00006
|
NM_025132.4(WDR19):c.4004A>G (p.Tyr1335Cys)
|
rs746465783
|
0.00006
|
NM_025132.4(WDR19):c.785G>A (p.Gly262Glu)
|
rs778096567
|
0.00006
|
NM_025132.4(WDR19):c.842T>C (p.Ile281Thr)
|
rs369657594
|
0.00006
|
NM_031885.5(BBS2):c.1527+5G>C
|
rs769041685
|
0.00006
|
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)
|
rs181107019
|
0.00006
|
NM_031885.5(BBS2):c.722A>C (p.Lys241Thr)
|
rs199918247
|
0.00006
|
NM_031924.8(RSPH3):c.-351G>A
|
rs371164829
|
0.00006
|
NM_031924.8(RSPH3):c.1219G>A (p.Ala407Thr)
|
rs764221184
|
0.00006
|
NM_031924.8(RSPH3):c.480A>G (p.Ile160Met)
|
rs752268377
|
0.00006
|
NM_033028.5(BBS4):c.1114C>T (p.Pro372Ser)
|
rs375558008
|
0.00006
|
NM_033028.5(BBS4):c.1440dup (p.Leu481fs)
|
rs780269741
|
0.00006
|
NM_033028.5(BBS4):c.437T>C (p.Ile146Thr)
|
rs769886837
|
0.00006
|
NM_033124.5(CCDC65):c.1297C>T (p.Arg433Trp)
|
rs138929942
|
0.00006
|
NM_033124.5(CCDC65):c.334C>A (p.Gln112Lys)
|
rs750352672
|
0.00006
|
NM_033124.5(CCDC65):c.341C>T (p.Ala114Val)
|
rs201888145
|
0.00006
|
NM_052844.4(DYNC2I2):c.1565G>A (p.Arg522Gln)
|
rs373418441
|
0.00006
|
NM_052844.4(DYNC2I2):c.338G>A (p.Arg113Gln)
|
rs141826084
|
0.00006
|
NM_052844.4(DYNC2I2):c.554A>G (p.His185Arg)
|
rs544202763
|
0.00006
|
NM_052844.4(DYNC2I2):c.583G>A (p.Val195Met)
|
rs370632485
|
0.00006
|
NM_080860.4(RSPH1):c.128C>A (p.Thr43Asn)
|
rs144221071
|
0.00006
|
NM_080860.4(RSPH1):c.150C>A (p.Phe50Leu)
|
rs752263023
|
0.00006
|
NM_080860.4(RSPH1):c.310G>A (p.Val104Ile)
|
rs373683028
|
0.00006
|
NM_080860.4(RSPH1):c.785T>C (p.Met262Thr)
|
rs139390401
|
0.00006
|
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly)
|
rs759112760
|
0.00006
|
NM_144596.4(TTC8):c.874G>A (p.Val292Ile)
|
rs375086490
|
0.00006
|
NM_144596.4(TTC8):c.913A>G (p.Met305Val)
|
rs143237548
|
0.00006
|
NM_145038.5(DRC1):c.1112C>T (p.Ser371Leu)
|
rs368859380
|
0.00006
|
NM_145038.5(DRC1):c.1123C>T (p.Arg375Cys)
|
rs145305515
|
0.00006
|
NM_145038.5(DRC1):c.1238T>C (p.Ile413Thr)
|
rs551640350
|
0.00006
|
NM_145038.5(DRC1):c.749C>T (p.Ala250Val)
|
rs138374268
|
0.00006
|
NM_145038.5(DRC1):c.994G>C (p.Val332Leu)
|
rs367682395
|
0.00006
|
NM_145045.5(ODAD3):c.1435-5C>A
|
rs371246808
|
0.00006
|
NM_145045.5(ODAD3):c.250G>C (p.Asp84His)
|
rs148235598
|
0.00006
|
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys)
|
rs377461598
|
0.00006
|
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys)
|
rs144270330
|
0.00006
|
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys)
|
rs375693723
|
0.00006
|
NM_147127.5(EVC2):c.2267A>C (p.Asn756Thr)
|
rs146837459
|
0.00006
|
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu)
|
rs138882677
|
0.00006
|
NM_152384.3(BBS5):c.308G>A (p.Ser103Asn)
|
rs567175904
|
0.00006
|
NM_152384.3(BBS5):c.542T>C (p.Phe181Ser)
|
rs758508869
|
0.00006
|
NM_152618.3(BBS12):c.1102C>T (p.Arg368Cys)
|
rs372534521
|
0.00006
|
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu)
|
rs369878286
|
0.00006
|
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu)
|
rs374865012
|
0.00006
|
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu)
|
rs767546051
|
0.00006
|
NM_152732.5(RSPH9):c.276G>A (p.Met92Ile)
|
rs147713380
|
0.00006
|
NM_152732.5(RSPH9):c.281C>T (p.Ala94Val)
|
rs142194323
|
0.00006
|
NM_152732.5(RSPH9):c.328G>A (p.Glu110Lys)
|
rs150021750
|
0.00006
|
NM_153704.6(TMEM67):c.2100+5A>G
|
rs545189546
|
0.00006
|
NM_153704.6(TMEM67):c.2556+4T>G
|
rs772449181
|
0.00006
|
NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys)
|
rs192288680
|
0.00006
|
NM_153704.6(TMEM67):c.651+5G>A
|
rs970248353
|
0.00006
|
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala)
|
rs202036490
|
0.00006
|
NM_153717.3(EVC):c.1807G>A (p.Val603Met)
|
rs886042994
|
0.00006
|
NM_170784.3(MKKS):c.1369G>A (p.Val457Ile)
|
rs376038160
|
0.00006
|
NM_170784.3(MKKS):c.281T>G (p.Phe94Cys)
|
rs141181516
|
0.00006
|
NM_170784.3(MKKS):c.35G>A (p.Cys12Tyr)
|
rs368277209
|
0.00006
|
NM_176824.3(BBS7):c.1142T>C (p.Ile381Thr)
|
rs374288473
|
0.00006
|
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr)
|
rs143700362
|
0.00006
|
NM_176824.3(BBS7):c.683G>A (p.Arg228His)
|
rs369866009
|
0.00006
|
NM_178452.6(DNAAF1):c.1225G>T (p.Gly409Cys)
|
rs950151051
|
0.00006
|
NM_178452.6(DNAAF1):c.1241G>T (p.Gly414Val)
|
rs142105097
|
0.00006
|
NM_181426.2(CCDC39):c.2005C>A (p.Gln669Lys)
|
rs751147958
|
0.00006
|
NM_198428.3(BBS9):c.138G>A (p.Met46Ile)
|
rs145241295
|
0.00006
|
NM_198428.3(BBS9):c.2403A>G (p.Ile801Met)
|
rs137993290
|
0.00006
|
NM_198428.3(BBS9):c.833G>A (p.Arg278Gln)
|
rs754343745
|
0.00006
|
NM_198525.3(KIF7):c.1708G>C (p.Gly570Arg)
|
rs569225496
|
0.00006
|
NM_198525.3(KIF7):c.1741C>A (p.Pro581Thr)
|
rs769897141
|
0.00006
|
NM_198525.3(KIF7):c.1841G>A (p.Arg614Lys)
|
rs1031698510
|
0.00006
|
NM_198525.3(KIF7):c.1942A>T (p.Ser648Cys)
|
rs757997374
|
0.00006
|
NM_198525.3(KIF7):c.1961G>A (p.Arg654His)
|
rs542994181
|
0.00006
|
NM_198525.3(KIF7):c.2060G>A (p.Arg687Gln)
|
rs200123657
|
0.00006
|
NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp)
|
rs367734857
|
0.00006
|
NM_198525.3(KIF7):c.2585G>A (p.Arg862His)
|
rs202057334
|
0.00006
|
NM_198525.3(KIF7):c.2674C>T (p.Arg892Cys)
|
rs146368430
|
0.00006
|
NM_198525.3(KIF7):c.3061C>T (p.Arg1021Cys)
|
rs144493884
|
0.00006
|
NM_198525.3(KIF7):c.3196C>T (p.Arg1066Cys)
|
rs77474187
|
0.00006
|
NM_198525.3(KIF7):c.3713A>G (p.Asn1238Ser)
|
rs371960047
|
0.00006
|
NM_198525.3(KIF7):c.3989G>A (p.Arg1330Gln)
|
rs377066237
|
0.00006
|
NM_213607.3(CCDC103):c.619G>A (p.Val207Met)
|
rs140977922
|
0.00006
|
NM_213607.3(CCDC103):c.82C>T (p.Arg28Trp)
|
rs144226204
|
0.00006
|
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His)
|
rs762173989
|
0.00005
|
NM_001010892.3(RSPH4A):c.650A>C (p.Tyr217Ser)
|
rs762313827
|
0.00005
|
NM_001010892.3(RSPH4A):c.902A>C (p.Gln301Pro)
|
rs755128358
|
0.00005
|
NM_001034853.2(RPGR):c.1245+6A>G
|
rs886038281
|
0.00005
|
NM_001077418.2(TMEM231):c.-62A>C
|
rs964025567
|
0.00005
|
NM_001082538.3(TCTN1):c.1739A>G (p.Asn580Ser)
|
rs757300709
|
0.00005
|
NM_001134831.2(AHI1):c.2453A>G (p.His818Arg)
|
rs371891688
|
0.00005
|
NM_001134831.2(AHI1):c.493G>A (p.Val165Ile)
|
rs755936005
|
0.00005
|
NM_001199397.3(NEK1):c.2045C>T (p.Pro682Leu)
|
rs779634939
|
0.00005
|
NM_001199397.3(NEK1):c.2225G>A (p.Arg742His)
|
rs778982890
|
0.00005
|
NM_001199397.3(NEK1):c.465-3T>C
|
rs760376432
|
0.00005
|
NM_001206927.2(DNAH8):c.11106A>T (p.Glu3702Asp)
|
rs113496494
|
0.00005
|
NM_001206927.2(DNAH8):c.11419A>G (p.Asn3807Asp)
|
rs368737192
|
0.00005
|
NM_001206927.2(DNAH8):c.12373A>G (p.Thr4125Ala)
|
rs376760583
|
0.00005
|
NM_001206927.2(DNAH8):c.13507A>T (p.Thr4503Ser)
|
rs367599642
|
0.00005
|
NM_001206927.2(DNAH8):c.1417G>A (p.Ala473Thr)
|
rs776772658
|
0.00005
|
NM_001206927.2(DNAH8):c.1716A>T (p.Glu572Asp)
|
rs367805228
|
0.00005
|
NM_001206927.2(DNAH8):c.2259+6C>T
|
rs769901901
|
0.00005
|
NM_001206927.2(DNAH8):c.2402A>G (p.Gln801Arg)
|
rs746906348
|
0.00005
|
NM_001206927.2(DNAH8):c.3041G>A (p.Arg1014Gln)
|
rs375687323
|
0.00005
|
NM_001206927.2(DNAH8):c.6518G>T (p.Arg2173Leu)
|
rs139579198
|
0.00005
|
NM_001206927.2(DNAH8):c.6778G>A (p.Glu2260Lys)
|
rs1018899864
|
0.00005
|
NM_001206927.2(DNAH8):c.719G>A (p.Arg240His)
|
rs188018051
|
0.00005
|
NM_001206927.2(DNAH8):c.732T>A (p.Asp244Glu)
|
rs776721493
|
0.00005
|
NM_001256715.1(DNAAF3):c.-115G>C
|
rs774308391
|
0.00005
|
NM_001256715.2(DNAAF3):c.1471G>T (p.Glu491Ter)
|
rs756412762
|
0.00005
|
NM_001256715.2(DNAAF3):c.387C>G (p.Phe129Leu)
|
rs528126745
|
0.00005
|
NM_001278293.3(ARL6):c.121A>G (p.Asn41Asp)
|
rs201618364
|
0.00005
|
NM_001329943.3(KIAA0586):c.928C>T (p.Pro310Ser)
|
rs1054781365
|
0.00005
|
NM_001329943.3(KIAA0586):c.968T>C (p.Leu323Ser)
|
rs563531719
|
0.00005
|
NM_001364171.2(ODAD1):c.1079A>T (p.Glu360Val)
|
rs759585116
|
0.00005
|
NM_001364171.2(ODAD1):c.1543A>G (p.Met515Val)
|
rs149756874
|
0.00005
|
NM_001364171.2(ODAD1):c.1957G>A (p.Val653Met)
|
rs780679601
|
0.00005
|
NM_001364171.2(ODAD1):c.226G>A (p.Ala76Thr)
|
rs376555574
|
0.00005
|
NM_001364171.2(ODAD1):c.377C>T (p.Thr126Met)
|
rs137875815
|
0.00005
|
NM_001364171.2(ODAD1):c.583C>T (p.Arg195Cys)
|
rs377507314
|
0.00005
|
NM_001364171.2(ODAD1):c.584G>A (p.Arg195His)
|
rs367890715
|
0.00005
|
NM_001369.3(DNAH5):c.4867G>A (p.Glu1623Lys)
|
rs147339019
|
0.00005
|
NM_001369.3(DNAH5):c.9538T>G (p.Ser3180Ala)
|
rs375817990
|
0.00005
|
NM_001375405.1(CEP120):c.1846T>C (p.Ser616Pro)
|
rs765938298
|
0.00005
|
NM_001375405.1(CEP120):c.634C>G (p.Leu212Val)
|
rs779407868
|
0.00005
|
NM_001377.3(DYNC2H1):c.2387G>A (p.Arg796Gln)
|
rs747028260
|
0.00005
|
NM_001377.3(DYNC2H1):c.2422G>A (p.Gly808Ser)
|
rs372055203
|
0.00005
|
NM_001377.3(DYNC2H1):c.2974G>A (p.Asp992Asn)
|
rs200222210
|
0.00005
|
NM_001377.3(DYNC2H1):c.7492A>G (p.Ile2498Val)
|
rs200034783
|
0.00005
|
NM_001377.3(DYNC2H1):c.8488G>A (p.Gly2830Arg)
|
rs769394385
|
0.00005
|
NM_001378454.1(ALMS1):c.11167A>G (p.Lys3723Glu)
|
rs530985565
|
0.00005
|
NM_001378454.1(ALMS1):c.11548-3T>C
|
rs555547573
|
0.00005
|
NM_001378454.1(ALMS1):c.11792A>G (p.Glu3931Gly)
|
rs776808559
|
0.00005
|
NM_001378454.1(ALMS1):c.12310A>G (p.Ile4104Val)
|
rs780286947
|
0.00005
|
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp)
|
rs776351580
|
0.00005
|
NM_001378454.1(ALMS1):c.3088T>A (p.Ser1030Thr)
|
rs1023974968
|
0.00005
|
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu)
|
rs375231416
|
0.00005
|
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu)
|
rs370406004
|
0.00005
|
NM_001378454.1(ALMS1):c.4286A>G (p.Tyr1429Cys)
|
rs763136053
|
0.00005
|
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val)
|
rs373213201
|
0.00005
|
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala)
|
rs770424780
|
0.00005
|
NM_001378454.1(ALMS1):c.5074C>T (p.Pro1692Ser)
|
rs764039432
|
0.00005
|
NM_001378454.1(ALMS1):c.6143A>G (p.Tyr2048Cys)
|
rs201162418
|
0.00005
|
NM_001378454.1(ALMS1):c.6183G>C (p.Gln2061His)
|
rs200041852
|
0.00005
|
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile)
|
rs373286582
|
0.00005
|
NM_001378454.1(ALMS1):c.6706C>A (p.Pro2236Thr)
|
rs200724860
|
0.00005
|
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr)
|
rs200432874
|
0.00005
|
NM_001378454.1(ALMS1):c.9769C>T (p.Arg3257Cys)
|
rs373998843
|
0.00005
|
NM_001378454.1(ALMS1):c.9937C>G (p.Pro3313Ala)
|
rs762967276
|
0.00005
|
NM_001378615.1(CC2D2A):c.157G>A (p.Glu53Lys)
|
rs373080748
|
0.00005
|
NM_001378615.1(CC2D2A):c.1645G>A (p.Glu549Lys)
|
rs368788560
|
0.00005
|
NM_001378615.1(CC2D2A):c.3514A>G (p.Ser1172Gly)
|
rs371924209
|
0.00005
|
NM_001378615.1(CC2D2A):c.4540C>T (p.Arg1514Cys)
|
rs756324214
|
0.00005
|
NM_001382391.1(CSPP1):c.113C>T (p.Ala38Val)
|
rs201536815
|
0.00005
|
NM_001382391.1(CSPP1):c.1639G>A (p.Val547Ile)
|
rs772097768
|
0.00005
|
NM_001382391.1(CSPP1):c.1842A>C (p.Glu614Asp)
|
rs759299114
|
0.00005
|
NM_001382391.1(CSPP1):c.1946C>T (p.Pro649Leu)
|
rs376210928
|
0.00005
|
NM_001382391.1(CSPP1):c.2267A>G (p.Glu756Gly)
|
rs559765139
|
0.00005
|
NM_001382391.1(CSPP1):c.2420G>A (p.Arg807Gln)
|
rs779204541
|
0.00005
|
NM_001382391.1(CSPP1):c.2702G>A (p.Arg901His)
|
rs375978348
|
0.00005
|
NM_001382391.1(CSPP1):c.2710+6G>A
|
rs369255080
|
0.00005
|
NM_001481.3(GAS8):c.1096G>A (p.Val366Met)
|
rs771158172
|
0.00005
|
NM_001481.3(GAS8):c.1141A>G (p.Lys381Glu)
|
rs1309830886
|
0.00005
|
NM_003114.5(SPAG1):c.2084A>G (p.Tyr695Cys)
|
rs146786187
|
0.00005
|
NM_003114.5(SPAG1):c.560A>C (p.His187Pro)
|
rs140986857
|
0.00005
|
NM_006642.5(SDCCAG8):c.280T>A (p.Ser94Thr)
|
rs776810375
|
0.00005
|
NM_006642.5(SDCCAG8):c.968G>A (p.Arg323Lys)
|
rs576672580
|
0.00005
|
NM_012144.4(DNAI1):c.644C>T (p.Pro215Leu)
|
rs755122846
|
0.00005
|
NM_012210.4(TRIM32):c.257T>C (p.Ile86Thr)
|
rs200326473
|
0.00005
|
NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile)
|
rs141953092
|
0.00005
|
NM_014704.4(CEP104):c.1317+3A>T
|
rs35165199
|
0.00005
|
NM_014704.4(CEP104):c.1570C>T (p.His524Tyr)
|
rs778672499
|
0.00005
|
NM_014714.4(IFT140):c.1976G>A (p.Arg659Gln)
|
rs780189760
|
0.00005
|
NM_014714.4(IFT140):c.2491C>T (p.Arg831Cys)
|
rs774690522
|
0.00005
|
NM_014714.4(IFT140):c.3382C>T (p.Arg1128Cys)
|
rs368830697
|
0.00005
|
NM_014714.4(IFT140):c.832G>A (p.Gly278Ser)
|
rs141986611
|
0.00005
|
NM_014956.5(CEP164):c.1574A>G (p.Gln525Arg)
|
rs778958469
|
0.00005
|
NM_014956.5(CEP164):c.1948C>T (p.Arg650Trp)
|
rs145755063
|
0.00005
|
NM_014956.5(CEP164):c.2921C>T (p.Thr974Ile)
|
rs150451678
|
0.00005
|
NM_014956.5(CEP164):c.2977T>G (p.Ser993Ala)
|
rs200571532
|
0.00005
|
NM_014956.5(CEP164):c.3188T>C (p.Ile1063Thr)
|
rs148477756
|
0.00005
|
NM_014956.5(CEP164):c.3538C>T (p.Arg1180Trp)
|
rs557730163
|
0.00005
|
NM_014956.5(CEP164):c.3883G>A (p.Ala1295Thr)
|
rs370793843
|
0.00005
|
NM_014956.5(CEP164):c.4148G>C (p.Gly1383Ala)
|
rs913817059
|
0.00005
|
NM_014956.5(CEP164):c.4355A>G (p.His1452Arg)
|
rs370039438
|
0.00005
|
NM_014956.5(CEP164):c.4375C>T (p.Arg1459Cys)
|
rs148650653
|
0.00005
|
NM_014956.5(CEP164):c.710C>A (p.Pro237His)
|
rs567606919
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1029+3A>C
|
rs778583149
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His)
|
rs76600508
|
0.00005
|
NM_015272.5(RPGRIP1L):c.1631A>G (p.Tyr544Cys)
|
rs139964287
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln)
|
rs532412372
|
0.00005
|
NM_015272.5(RPGRIP1L):c.821A>T (p.Gln274Leu)
|
rs141574764
|
0.00005
|
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn)
|
rs530772984
|
0.00005
|
NM_015512.5(DNAH1):c.10151G>A (p.Arg3384His)
|
rs781434212
|
0.00005
|
NM_015512.5(DNAH1):c.10384G>A (p.Asp3462Asn)
|
rs529294306
|
0.00005
|
NM_015512.5(DNAH1):c.1154C>T (p.Thr385Met)
|
rs369555260
|
0.00005
|
NM_015512.5(DNAH1):c.12017A>C (p.Gln4006Pro)
|
rs369197857
|
0.00005
|
NM_015512.5(DNAH1):c.2234A>G (p.Gln745Arg)
|
rs769851333
|
0.00005
|
NM_015512.5(DNAH1):c.2278_2280del (p.Asn760del)
|
rs774882237
|
0.00005
|
NM_015512.5(DNAH1):c.2350C>T (p.Leu784Phe)
|
rs147836376
|
0.00005
|
NM_015512.5(DNAH1):c.3569C>T (p.Pro1190Leu)
|
rs369084832
|
0.00005
|
NM_015512.5(DNAH1):c.3796C>T (p.Arg1266Cys)
|
rs755852298
|
0.00005
|
NM_015512.5(DNAH1):c.4457G>A (p.Arg1486Gln)
|
rs540607147
|
0.00005
|
NM_015512.5(DNAH1):c.5531A>G (p.Lys1844Arg)
|
rs371251530
|
0.00005
|
NM_015512.5(DNAH1):c.8434C>T (p.His2812Tyr)
|
rs374543995
|
0.00005
|
NM_015512.5(DNAH1):c.8933A>G (p.Tyr2978Cys)
|
rs761794737
|
0.00005
|
NM_015512.5(DNAH1):c.9601G>C (p.Val3201Leu)
|
rs776981791
|
0.00005
|
NM_015631.6(TCTN3):c.488A>G (p.His163Arg)
|
rs376756059
|
0.00005
|
NM_015662.3(IFT172):c.2036C>T (p.Thr679Ile)
|
rs369169776
|
0.00005
|
NM_015662.3(IFT172):c.2351G>A (p.Arg784Gln)
|
rs370097039
|
0.00005
|
NM_015662.3(IFT172):c.3372-3C>T
|
rs150011917
|
0.00005
|
NM_015662.3(IFT172):c.3643G>A (p.Asp1215Asn)
|
rs777398021
|
0.00005
|
NM_015662.3(IFT172):c.4436A>G (p.Asn1479Ser)
|
rs757946737
|
0.00005
|
NM_015662.3(IFT172):c.4448G>A (p.Arg1483Lys)
|
rs201356906
|
0.00005
|
NM_015662.3(IFT172):c.4622A>G (p.Tyr1541Cys)
|
rs138003766
|
0.00005
|
NM_015896.4(ZMYND10):c.155T>G (p.Val52Gly)
|
rs141884144
|
0.00005
|
NM_015910.7(WDPCP):c.1103G>A (p.Arg368His)
|
rs749677469
|
0.00005
|
NM_015910.7(WDPCP):c.2161G>A (p.Gly721Arg)
|
rs563554007
|
0.00005
|
NM_015910.7(WDPCP):c.221G>A (p.Gly74Asp)
|
rs368745542
|
0.00005
|
NM_016464.5(TMEM138):c.457C>G (p.Leu153Val)
|
rs745506522
|
0.00005
|
NM_016464.5(TMEM138):c.82T>G (p.Ser28Ala)
|
rs764405866
|
0.00005
|
NM_016616.5(NME8):c.1097A>G (p.Glu366Gly)
|
rs762153775
|
0.00005
|
NM_016616.5(NME8):c.1735A>G (p.Asn579Asp)
|
rs775868906
|
0.00005
|
NM_017802.4(DNAAF5):c.1375G>A (p.Ala459Thr)
|
rs201942359
|
0.00005
|
NM_017802.4(DNAAF5):c.1487G>A (p.Arg496His)
|
rs149610399
|
0.00005
|
NM_017802.4(DNAAF5):c.2551G>A (p.Val851Met)
|
rs201895277
|
0.00005
|
NM_017950.4(CCDC40):c.1594G>A (p.Gly532Ser)
|
rs936824026
|
0.00005
|
NM_017950.4(CCDC40):c.3250G>A (p.Val1084Met)
|
rs546314844
|
0.00005
|
NM_017950.4(CCDC40):c.994T>C (p.Tyr332His)
|
rs371604414
|
0.00005
|
NM_018051.5(DYNC2I1):c.2029G>A (p.Val677Ile)
|
rs767670522
|
0.00005
|
NM_018051.5(DYNC2I1):c.2317A>G (p.Thr773Ala)
|
rs770249657
|
0.00005
|
NM_018051.5(DYNC2I1):c.731A>G (p.Lys244Arg)
|
rs755850270
|
0.00005
|
NM_018076.5(ODAD2):c.2257C>T (p.Arg753Trp)
|
rs763662864
|
0.00005
|
NM_018076.5(ODAD2):c.2560G>A (p.Val854Met)
|
rs371924761
|
0.00005
|
NM_018076.5(ODAD2):c.2941C>T (p.Arg981Trp)
|
rs143072735
|
0.00005
|
NM_018076.5(ODAD2):c.383C>G (p.Ala128Gly)
|
rs1240219568
|
0.00005
|
NM_018139.3(DNAAF2):c.968C>G (p.Pro323Arg)
|
rs750921798
|
0.00005
|
NM_019892.6(INPP5E):c.1051C>T (p.Arg351Cys)
|
rs764667114
|
0.00005
|
NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala)
|
rs200223403
|
0.00005
|
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)
|
rs550485638
|
0.00005
|
NM_019892.6(INPP5E):c.878A>T (p.Tyr293Phe)
|
rs145264797
|
0.00005
|
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val)
|
rs763618858
|
0.00005
|
NM_020779.4(WDR35):c.2580G>A (p.Met860Ile)
|
rs201443916
|
0.00005
|
NM_020800.3(IFT80):c.1126G>C (p.Val376Leu)
|
rs753617262
|
0.00005
|
NM_020800.3(IFT80):c.1381-6T>A
|
rs781482459
|
0.00005
|
NM_020800.3(IFT80):c.2014A>G (p.Ile672Val)
|
rs767128122
|
0.00005
|
NM_020800.3(IFT80):c.511A>G (p.Ile171Val)
|
rs140163837
|
0.00005
|
NM_023036.6(DNAI2):c.1165C>T (p.Arg389Cys)
|
rs375896715
|
0.00005
|
NM_023036.6(DNAI2):c.146C>T (p.Thr49Met)
|
rs374715330
|
0.00005
|
NM_024649.5(BBS1):c.551C>T (p.Ala184Val)
|
rs372673129
|
0.00005
|
NM_024649.5(BBS1):c.751C>G (p.Leu251Val)
|
rs951217740
|
0.00005
|
NM_024649.5(BBS1):c.901G>A (p.Val301Ile)
|
rs1037134217
|
0.00005
|
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val)
|
rs753629989
|
0.00005
|
NM_024753.5(TTC21B):c.1427G>A (p.Arg476His)
|
rs767963660
|
0.00005
|
NM_024753.5(TTC21B):c.2224A>G (p.Ile742Val)
|
rs147222434
|
0.00005
|
NM_024753.5(TTC21B):c.250A>G (p.Ser84Gly)
|
rs763267081
|
0.00005
|
NM_024753.5(TTC21B):c.2611G>A (p.Glu871Lys)
|
rs757730050
|
0.00005
|
NM_024809.5(TCTN2):c.259C>T (p.Pro87Ser)
|
rs138562955
|
0.00005
|
NM_024809.5(TCTN2):c.267+3A>G
|
rs748772785
|
0.00005
|
NM_024809.5(TCTN2):c.82+11C>T
|
rs377654309
|
0.00005
|
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys)
|
rs373414042
|
0.00005
|
NM_025114.4(CEP290):c.4186C>G (p.Gln1396Glu)
|
rs1459653241
|
0.00005
|
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His)
|
rs758453972
|
0.00005
|
NM_025114.4(CEP290):c.998A>C (p.Asn333Thr)
|
rs376033047
|
0.00005
|
NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu)
|
rs571678102
|
0.00005
|
NM_025132.4(WDR19):c.2450T>A (p.Val817Glu)
|
rs749621367
|
0.00005
|
NM_025132.4(WDR19):c.3140C>T (p.Pro1047Leu)
|
rs1244203665
|
0.00005
|
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys)
|
rs757564170
|
0.00005
|
NM_025132.4(WDR19):c.3521G>A (p.Arg1174His)
|
rs372719724
|
0.00005
|
NM_025132.4(WDR19):c.592G>A (p.Ala198Thr)
|
rs575149055
|
0.00005
|
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu)
|
rs967941621
|
0.00005
|
NM_031885.5(BBS2):c.970A>T (p.Met324Leu)
|
rs778551017
|
0.00005
|
NM_031924.8(RSPH3):c.-422C>A
|
rs565392186
|
0.00005
|
NM_080860.4(RSPH1):c.713C>T (p.Ala238Val)
|
rs201984262
|
0.00005
|
NM_144596.4(TTC8):c.1078G>A (p.Gly360Ser)
|
rs771231605
|
0.00005
|
NM_145045.5(ODAD3):c.10C>T (p.Pro4Ser)
|
rs546113125
|
0.00005
|
NM_145045.5(ODAD3):c.320G>A (p.Arg107His)
|
rs376087461
|
0.00005
|
NM_145045.5(ODAD3):c.901A>G (p.Ile301Val)
|
rs750661034
|
0.00005
|
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp)
|
rs760871098
|
0.00005
|
NM_147127.5(EVC2):c.3644G>A (p.Arg1215His)
|
rs139577475
|
0.00005
|
NM_152384.3(BBS5):c.829G>A (p.Glu277Lys)
|
rs754858756
|
0.00005
|
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)
|
rs767068756
|
0.00005
|
NM_152618.3(BBS12):c.1198G>A (p.Val400Met)
|
rs771136797
|
0.00005
|
NM_152618.3(BBS12):c.140G>A (p.Ser47Asn)
|
rs149473445
|
0.00005
|
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr)
|
rs762558855
|
0.00005
|
NM_152618.3(BBS12):c.1858C>G (p.Gln620Glu)
|
rs776100718
|
0.00005
|
NM_152732.5(RSPH9):c.249C>A (p.Ser83Arg)
|
rs773953326
|
0.00005
|
NM_153704.6(TMEM67):c.1561C>T (p.His521Tyr)
|
rs558566529
|
0.00005
|
NM_153704.6(TMEM67):c.1823G>A (p.Arg608His)
|
rs146130549
|
0.00005
|
NM_153704.6(TMEM67):c.453G>C (p.Glu151Asp)
|
rs200155700
|
0.00005
|
NM_153704.6(TMEM67):c.507G>A (p.Arg169=)
|
rs759319668
|
0.00005
|
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln)
|
rs767013073
|
0.00005
|
NM_170784.3(MKKS):c.1261A>G (p.Ile421Val)
|
rs778950712
|
0.00005
|
NM_170784.3(MKKS):c.1454C>T (p.Pro485Leu)
|
rs139509933
|
0.00005
|
NM_176824.3(BBS7):c.1036C>T (p.Arg346Trp)
|
rs533535422
|
0.00005
|
NM_178452.6(DNAAF1):c.110G>A (p.Gly37Glu)
|
rs193069859
|
0.00005
|
NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met)
|
rs193291760
|
0.00005
|
NM_178452.6(DNAAF1):c.1699-9del
|
rs1187555170
|
0.00005
|
NM_178452.6(DNAAF1):c.1737G>C (p.Leu579Phe)
|
rs148622974
|
0.00005
|
NM_178452.6(DNAAF1):c.2014C>G (p.Leu672Val)
|
rs761549054
|
0.00005
|
NM_178452.6(DNAAF1):c.618C>G (p.His206Gln)
|
rs372777928
|
0.00005
|
NM_178452.6(DNAAF1):c.989G>A (p.Arg330Gln)
|
rs751716129
|
0.00005
|
NM_181426.2(CCDC39):c.1436C>T (p.Ala479Val)
|
rs780264719
|
0.00005
|
NM_181426.2(CCDC39):c.261G>T (p.Lys87Asn)
|
rs575350719
|
0.00005
|
NM_181426.2(CCDC39):c.2626C>T (p.Arg876Cys)
|
rs745852520
|
0.00005
|
NM_181426.2(CCDC39):c.670A>G (p.Ile224Val)
|
rs544311014
|
0.00005
|
NM_198428.3(BBS9):c.1949A>G (p.Asp650Gly)
|
rs201876934
|
0.00005
|
NM_198428.3(BBS9):c.2449G>A (p.Asp817Asn)
|
rs781476538
|
0.00005
|
NM_198428.3(BBS9):c.663G>T (p.Glu221Asp)
|
rs767766656
|
0.00005
|
NM_198525.3(KIF7):c.1069T>G (p.Trp357Gly)
|
rs1449579286
|
0.00005
|
NM_198525.3(KIF7):c.2308G>A (p.Glu770Lys)
|
rs148779858
|
0.00005
|
NM_198525.3(KIF7):c.2642C>T (p.Thr881Met)
|
rs372660203
|
0.00005
|
NM_198525.3(KIF7):c.2758G>C (p.Glu920Gln)
|
rs746577567
|
0.00005
|
NM_198525.3(KIF7):c.2816G>A (p.Arg939Gln)
|
rs771525697
|
0.00005
|
NM_198525.3(KIF7):c.3010C>T (p.Arg1004Cys)
|
rs143309556
|
0.00005
|
NM_198525.3(KIF7):c.322A>T (p.Ser108Cys)
|
rs754667399
|
0.00005
|
NM_198525.3(KIF7):c.3595C>T (p.Arg1199Cys)
|
rs748917501
|
0.00005
|
NM_198525.3(KIF7):c.3755C>T (p.Ser1252Phe)
|
rs546772749
|
0.00005
|
NM_198525.3(KIF7):c.3785G>T (p.Arg1262Leu)
|
rs561205514
|
0.00005
|
NM_198525.3(KIF7):c.520G>A (p.Gly174Arg)
|
rs188342701
|
0.00005
|
NM_001006657.2(WDR35):c.1204G>A (p.Glu402Lys)
|
rs553534590
|
0.00004
|
NM_001010892.3(RSPH4A):c.1006C>T (p.Arg336Cys)
|
rs746613781
|
0.00004
|
NM_001010892.3(RSPH4A):c.1333C>T (p.Pro445Ser)
|
rs146636625
|
0.00004
|
NM_001010892.3(RSPH4A):c.1814C>A (p.Pro605His)
|
rs775186734
|
0.00004
|
NM_001010892.3(RSPH4A):c.25C>A (p.Gln9Lys)
|
rs139499008
|
0.00004
|
NM_001010892.3(RSPH4A):c.35A>T (p.Glu12Val)
|
rs377656819
|
0.00004
|
NM_001010892.3(RSPH4A):c.596G>T (p.Gly199Val)
|
rs143264253
|
0.00004
|
NM_001034853.2(RPGR):c.1508C>G (p.Thr503Arg)
|
rs374555833
|
0.00004
|
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)
|
rs372686071
|
0.00004
|
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp)
|
rs370790275
|
0.00004
|
NM_001044385.3(TMEM237):c.541G>A (p.Val181Met)
|
rs755252433
|
0.00004
|
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met)
|
rs374042611
|
0.00004
|
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro)
|
rs200892635
|
0.00004
|
NM_001044385.3(TMEM237):c.686G>T (p.Gly229Val)
|
rs374399278
|
0.00004
|
NM_001077418.3(TMEM231):c.140-33C>T
|
rs901311435
|
0.00004
|
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln)
|
rs774528098
|
0.00004
|
NM_001077418.3(TMEM231):c.575G>A (p.Arg192Gln)
|
rs756494100
|
0.00004
|
NM_001077418.3(TMEM231):c.824G>C (p.Ser275Thr)
|
rs770469234
|
0.00004
|
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met)
|
rs373660568
|
0.00004
|
NM_001077418.3(TMEM231):c.8T>A (p.Leu3His)
|
rs753292136
|
0.00004
|
NM_001082538.3(TCTN1):c.644C>A (p.Thr215Asn)
|
rs545613207
|
0.00004
|
NM_001134831.2(AHI1):c.128A>G (p.Asn43Ser)
|
rs367736269
|
0.00004
|
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile)
|
rs761804458
|
0.00004
|
NM_001134831.2(AHI1):c.2039T>C (p.Ile680Thr)
|
rs761596435
|
0.00004
|
NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val)
|
rs763696602
|
0.00004
|
NM_001134831.2(AHI1):c.2432A>G (p.Asn811Ser)
|
rs375584168
|
0.00004
|
NM_001134831.2(AHI1):c.2672G>A (p.Arg891Gln)
|
rs200816459
|
0.00004
|
NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln)
|
rs371242173
|
0.00004
|
NM_001134831.2(AHI1):c.3274A>C (p.Ser1092Arg)
|
rs375028507
|
0.00004
|
NM_001134831.2(AHI1):c.3373C>T (p.Pro1125Ser)
|
rs1020870112
|
0.00004
|
NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val)
|
rs200250333
|
0.00004
|
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln)
|
rs368617773
|
0.00004
|
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met)
|
rs541257103
|
0.00004
|
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)
|
rs752216307
|
0.00004
|
NM_001174150.2(ARL13B):c.379G>T (p.Val127Leu)
|
rs771933896
|
0.00004
|
NM_001174150.2(ARL13B):c.502A>G (p.Ile168Val)
|
rs748838191
|
0.00004
|
NM_001174150.2(ARL13B):c.506C>T (p.Ser169Leu)
|
rs376359647
|
0.00004
|
NM_001174150.2(ARL13B):c.781G>A (p.Ala261Thr)
|
rs950077926
|
0.00004
|
NM_001199397.3(NEK1):c.1080G>C (p.Glu360Asp)
|
rs765591688
|
0.00004
|
NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile)
|
rs776098853
|
0.00004
|
NM_001199397.3(NEK1):c.3140C>T (p.Ser1047Leu)
|
rs377607698
|
0.00004
|
NM_001206927.2(DNAH8):c.1016A>G (p.Lys339Arg)
|
rs772095746
|
0.00004
|
NM_001206927.2(DNAH8):c.11157G>A (p.Leu3719=)
|
rs201642901
|
0.00004
|
NM_001206927.2(DNAH8):c.11345A>C (p.Asn3782Thr)
|
rs150057448
|
0.00004
|
NM_001206927.2(DNAH8):c.1681G>C (p.Glu561Gln)
|
rs370590661
|
0.00004
|
NM_001206927.2(DNAH8):c.2083C>G (p.His695Asp)
|
rs200737379
|
0.00004
|
NM_001206927.2(DNAH8):c.2290G>A (p.Gly764Ser)
|
rs199536824
|
0.00004
|
NM_001206927.2(DNAH8):c.2394C>T (p.Tyr798=)
|
rs762160890
|
0.00004
|
NM_001206927.2(DNAH8):c.2716A>G (p.Thr906Ala)
|
rs769310274
|
0.00004
|
NM_001206927.2(DNAH8):c.2743G>A (p.Glu915Lys)
|
rs772099828
|
0.00004
|
NM_001206927.2(DNAH8):c.3126T>G (p.His1042Gln)
|
rs190247264
|
0.00004
|
NM_001206927.2(DNAH8):c.3214C>T (p.Arg1072Trp)
|
rs755566659
|
0.00004
|
NM_001206927.2(DNAH8):c.3905G>A (p.Arg1302Gln)
|
rs267601013
|
0.00004
|
NM_001206927.2(DNAH8):c.3956T>C (p.Ile1319Thr)
|
rs201847227
|
0.00004
|
NM_001206927.2(DNAH8):c.4403A>G (p.Tyr1468Cys)
|
rs766707073
|
0.00004
|
NM_001206927.2(DNAH8):c.4996A>G (p.Thr1666Ala)
|
rs769387808
|
0.00004
|
NM_001206927.2(DNAH8):c.5128G>A (p.Val1710Ile)
|
rs756038605
|
0.00004
|
NM_001206927.2(DNAH8):c.5210G>A (p.Arg1737His)
|
rs568480936
|
0.00004
|
NM_001206927.2(DNAH8):c.5498A>G (p.Asn1833Ser)
|
rs143128496
|
0.00004
|
NM_001206927.2(DNAH8):c.5530C>T (p.Arg1844Cys)
|
rs747954312
|
0.00004
|
NM_001206927.2(DNAH8):c.5666C>T (p.Ser1889Phe)
|
rs781342164
|
0.00004
|
NM_001206927.2(DNAH8):c.5668G>A (p.Ala1890Thr)
|
rs375461103
|
0.00004
|
NM_001206927.2(DNAH8):c.5789G>A (p.Arg1930His)
|
rs758923038
|
0.00004
|
NM_001206927.2(DNAH8):c.582G>T (p.Leu194Phe)
|
rs748063803
|
0.00004
|
NM_001206927.2(DNAH8):c.5834A>C (p.Lys1945Thr)
|
rs549839617
|
0.00004
|
NM_001206927.2(DNAH8):c.6035A>G (p.Asp2012Gly)
|
rs762397682
|
0.00004
|
NM_001206927.2(DNAH8):c.6788T>C (p.Ile2263Thr)
|
rs773895088
|
0.00004
|
NM_001206927.2(DNAH8):c.7015C>T (p.His2339Tyr)
|
rs373404092
|
0.00004
|
NM_001206927.2(DNAH8):c.7918C>A (p.Pro2640Thr)
|
rs575069902
|
0.00004
|
NM_001206927.2(DNAH8):c.8668A>G (p.Ile2890Val)
|
rs373858239
|
0.00004
|
NM_001206927.2(DNAH8):c.8747+5G>A
|
rs767171490
|
0.00004
|
NM_001206927.2(DNAH8):c.8792C>G (p.Thr2931Ser)
|
rs372046397
|
0.00004
|
NM_001206927.2(DNAH8):c.8852A>G (p.Tyr2951Cys)
|
rs746640155
|
0.00004
|
NM_001206927.2(DNAH8):c.9041A>G (p.Asp3014Gly)
|
rs200370466
|
0.00004
|
NM_001206927.2(DNAH8):c.9223G>A (p.Asp3075Asn)
|
rs773209277
|
0.00004
|
NM_001256715.2(DNAAF3):c.1132G>A (p.Gly378Ser)
|
rs200611170
|
0.00004
|
NM_001256715.2(DNAAF3):c.433G>A (p.Asp145Asn)
|
rs1442451142
|
0.00004
|
NM_001256715.2(DNAAF3):c.640C>T (p.Arg214Cys)
|
rs761550989
|
0.00004
|
NM_001256715.2(DNAAF3):c.72C>A (p.Asp24Glu)
|
rs200866175
|
0.00004
|
NM_001256715.2(DNAAF3):c.743A>C (p.Tyr248Ser)
|
rs756236772
|
0.00004
|
NM_001256715.2(DNAAF3):c.86-48A>G
|
rs1483874945
|
0.00004
|
NM_001277115.2(DNAH11):c.13310G>A (p.Arg4437His)
|
rs775606157
|
0.00004
|
NM_001277115.2(DNAH11):c.13429G>A (p.Glu4477Lys)
|
rs551275210
|
0.00004
|
NM_001277115.2(DNAH11):c.8552C>G (p.Ala2851Gly)
|
rs766265779
|
0.00004
|
NM_001278293.3(ARL6):c.350A>G (p.Asp117Gly)
|
rs370120886
|
0.00004
|
NM_001329943.3(KIAA0586):c.1031G>A (p.Arg344His)
|
rs773375756
|
0.00004
|
NM_001329943.3(KIAA0586):c.1433A>G (p.Asn478Ser)
|
rs773524165
|
0.00004
|
NM_001329943.3(KIAA0586):c.1847G>C (p.Gly616Ala)
|
rs774592908
|
0.00004
|
NM_001329943.3(KIAA0586):c.2015C>G (p.Pro672Arg)
|
rs749825699
|
0.00004
|
NM_001329943.3(KIAA0586):c.2026C>T (p.Pro676Ser)
|
rs967603971
|
0.00004
|
NM_001329943.3(KIAA0586):c.2531C>A (p.Pro844His)
|
rs200490147
|
0.00004
|
NM_001329943.3(KIAA0586):c.3257C>T (p.Ser1086Leu)
|
rs772256006
|
0.00004
|
NM_001329943.3(KIAA0586):c.3261T>A (p.Asp1087Glu)
|
rs1049863128
|
0.00004
|
NM_001329943.3(KIAA0586):c.3556C>A (p.Pro1186Thr)
|
rs368136238
|
0.00004
|
NM_001329943.3(KIAA0586):c.3682A>G (p.Ser1228Gly)
|
rs761946256
|
0.00004
|
NM_001329943.3(KIAA0586):c.4436C>G (p.Pro1479Arg)
|
rs374096160
|
0.00004
|
NM_001329943.3(KIAA0586):c.4495+3791G>A
|
rs924361010
|
0.00004
|
NM_001329943.3(KIAA0586):c.620T>C (p.Val207Ala)
|
rs199837404
|
0.00004
|
NM_001364171.2(ODAD1):c.1313G>A (p.Ser438Asn)
|
rs201757586
|
0.00004
|
NM_001364171.2(ODAD1):c.1397A>G (p.His466Arg)
|
rs368172509
|
0.00004
|
NM_001364171.2(ODAD1):c.1581+5G>A
|
rs773996867
|
0.00004
|
NM_001364171.2(ODAD1):c.1772G>A (p.Arg591His)
|
rs559302212
|
0.00004
|
NM_001364171.2(ODAD1):c.1786C>T (p.His596Tyr)
|
rs779854692
|
0.00004
|
NM_001364171.2(ODAD1):c.199C>T (p.Arg67Trp)
|
rs763939366
|
0.00004
|
NM_001364171.2(ODAD1):c.2116C>T (p.Arg706Trp)
|
rs200369693
|
0.00004
|
NM_001364171.2(ODAD1):c.265C>T (p.Arg89Trp)
|
rs547720986
|
0.00004
|
NM_001364171.2(ODAD1):c.811C>T (p.Arg271Trp)
|
rs141590182
|
0.00004
|
NM_001369.3(DNAH5):c.1240A>G (p.Asn414Asp)
|
rs143391709
|
0.00004
|
NM_001369.3(DNAH5):c.12490A>G (p.Thr4164Ala)
|
rs753204839
|
0.00004
|
NM_001369.3(DNAH5):c.2984A>G (p.Asp995Gly)
|
rs749983185
|
0.00004
|
NM_001369.3(DNAH5):c.4481G>A (p.Arg1494Gln)
|
rs372291214
|
0.00004
|
NM_001369.3(DNAH5):c.5198C>T (p.Ser1733Leu)
|
rs146087064
|
0.00004
|
NM_001369.3(DNAH5):c.5878G>T (p.Asp1960Tyr)
|
rs1298235452
|
0.00004
|
NM_001369.3(DNAH5):c.6007G>A (p.Val2003Ile)
|
rs776402895
|
0.00004
|
NM_001369.3(DNAH5):c.9400G>A (p.Asp3134Asn)
|
rs1038976235
|
0.00004
|
NM_001375405.1(CEP120):c.2119A>G (p.Ile707Val)
|
rs200462051
|
0.00004
|
NM_001375405.1(CEP120):c.2237G>A (p.Arg746Gln)
|
rs375645626
|
0.00004
|
NM_001377.3(DYNC2H1):c.10277A>C (p.Glu3426Ala)
|
rs375512191
|
0.00004
|
NM_001377.3(DYNC2H1):c.12253C>T (p.Arg4085Cys)
|
rs201076231
|
0.00004
|
NM_001377.3(DYNC2H1):c.2027A>C (p.Gln676Pro)
|
rs752041287
|
0.00004
|
NM_001377.3(DYNC2H1):c.2472T>G (p.Ile824Met)
|
rs779852550
|
0.00004
|
NM_001377.3(DYNC2H1):c.2908A>T (p.Asn970Tyr)
|
rs914483901
|
0.00004
|
NM_001377.3(DYNC2H1):c.3757C>T (p.Arg1253Trp)
|
rs375636006
|
0.00004
|
NM_001377.3(DYNC2H1):c.391G>C (p.Asp131His)
|
rs759690887
|
0.00004
|
NM_001377.3(DYNC2H1):c.4900A>G (p.Met1634Val)
|
rs753296481
|
0.00004
|
NM_001377.3(DYNC2H1):c.5681A>G (p.Glu1894Gly)
|
rs753911293
|
0.00004
|
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys)
|
rs775426647
|
0.00004
|
NM_001377.3(DYNC2H1):c.7456G>A (p.Val2486Ile)
|
rs568180989
|
0.00004
|
NM_001377.3(DYNC2H1):c.7540+3G>A
|
rs750251551
|
0.00004
|
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val)
|
rs765998830
|
0.00004
|
NM_001377.3(DYNC2H1):c.9217T>C (p.Ser3073Pro)
|
rs199970220
|
0.00004
|
NM_001377.3(DYNC2H1):c.9585G>C (p.Glu3195Asp)
|
rs758118161
|
0.00004
|
NM_001378454.1(ALMS1):c.10823G>A (p.Arg3608Gln)
|
rs752052259
|
0.00004
|
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp)
|
rs766771102
|
0.00004
|
NM_001378454.1(ALMS1):c.11293A>G (p.Ile3765Val)
|
rs758062371
|
0.00004
|
NM_001378454.1(ALMS1):c.11567C>T (p.Ser3856Phe)
|
rs1414717577
|
0.00004
|
NM_001378454.1(ALMS1):c.11863T>G (p.Ser3955Ala)
|
rs45528134
|
0.00004
|
NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala)
|
rs201777220
|
0.00004
|
NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu)
|
rs199683521
|
0.00004
|
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)
|
rs541576664
|
0.00004
|
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His)
|
rs61743400
|
0.00004
|
NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu)
|
rs750502331
|
0.00004
|
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala)
|
rs377283762
|
0.00004
|
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile)
|
rs201990757
|
0.00004
|
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn)
|
rs200454461
|
0.00004
|
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp)
|
rs531859344
|
0.00004
|
NM_001378454.1(ALMS1):c.1971G>T (p.Gln657His)
|
rs753296810
|
0.00004
|
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser)
|
rs200827630
|
0.00004
|
NM_001378454.1(ALMS1):c.2434T>G (p.Ser812Ala)
|
rs376991574
|
0.00004
|
NM_001378454.1(ALMS1):c.311C>T (p.Thr104Ile)
|
rs1394136837
|
0.00004
|
NM_001378454.1(ALMS1):c.3319T>C (p.Tyr1107His)
|
rs746162373
|
0.00004
|
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro)
|
rs553406974
|
0.00004
|
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe)
|
rs375842278
|
0.00004
|
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr)
|
rs370271775
|
0.00004
|
NM_001378454.1(ALMS1):c.5267C>G (p.Ser1756Cys)
|
rs761486372
|
0.00004
|
NM_001378454.1(ALMS1):c.536C>T (p.Thr179Met)
|
rs768531502
|
0.00004
|
NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe)
|
rs528863432
|
0.00004
|
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu)
|
rs191286546
|
0.00004
|
NM_001378454.1(ALMS1):c.6577G>A (p.Glu2193Lys)
|
rs911597055
|
0.00004
|
NM_001378454.1(ALMS1):c.6628A>G (p.Asn2210Asp)
|
rs780909821
|
0.00004
|
NM_001378454.1(ALMS1):c.6815T>C (p.Met2272Thr)
|
rs1330734793
|
0.00004
|
NM_001378454.1(ALMS1):c.6853C>T (p.Arg2285Cys)
|
rs375458331
|
0.00004
|
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met)
|
rs147001219
|
0.00004
|
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly)
|
rs549778430
|
0.00004
|
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr)
|
rs760068474
|
0.00004
|
NM_001378454.1(ALMS1):c.7445A>G (p.His2482Arg)
|
rs199698329
|
0.00004
|
NM_001378454.1(ALMS1):c.7525C>T (p.Arg2509Trp)
|
rs34183407
|
0.00004
|
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu)
|
rs201654702
|
0.00004
|
NM_001378454.1(ALMS1):c.777T>G (p.Asp259Glu)
|
rs190445250
|
0.00004
|
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu)
|
rs201739856
|
0.00004
|
NM_001378454.1(ALMS1):c.7816T>C (p.Ser2606Pro)
|
rs532551687
|
0.00004
|
NM_001378454.1(ALMS1):c.8035T>G (p.Trp2679Gly)
|
rs1403694361
|
0.00004
|
NM_001378454.1(ALMS1):c.8206G>A (p.Val2736Ile)
|
rs766878343
|
0.00004
|
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro)
|
rs370508584
|
0.00004
|
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln)
|
rs778162209
|
0.00004
|
NM_001378454.1(ALMS1):c.9083G>A (p.Cys3028Tyr)
|
rs565501407
|
0.00004
|
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg)
|
rs376083621
|
0.00004
|
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro)
|
rs372015288
|
0.00004
|
NM_001378454.1(ALMS1):c.955A>G (p.Asn319Asp)
|
rs376892136
|
0.00004
|
NM_001378454.1(ALMS1):c.9713G>A (p.Arg3238His)
|
rs1176919572
|
0.00004
|
NM_001378454.1(ALMS1):c.9770G>A (p.Arg3257His)
|
rs748153319
|
0.00004
|
NM_001378454.1(ALMS1):c.9866C>T (p.Pro3289Leu)
|
rs369660958
|
0.00004
|
NM_001378615.1(CC2D2A):c.1091C>T (p.Pro364Leu)
|
rs768618373
|
0.00004
|
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val)
|
rs775138548
|
0.00004
|
NM_001378615.1(CC2D2A):c.2101C>G (p.Leu701Val)
|
rs537906621
|
0.00004
|
NM_001378615.1(CC2D2A):c.2181+6C>T
|
rs997637353
|
0.00004
|
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu)
|
rs370014549
|
0.00004
|
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln)
|
rs770896540
|
0.00004
|
NM_001378615.1(CC2D2A):c.308G>A (p.Arg103His)
|
rs566281691
|
0.00004
|
NM_001378615.1(CC2D2A):c.3640T>C (p.Tyr1214His)
|
rs759970546
|
0.00004
|
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala)
|
rs387907058
|
0.00004
|
NM_001378615.1(CC2D2A):c.4766C>G (p.Pro1589Arg)
|
rs374301736
|
0.00004
|
NM_001378615.1(CC2D2A):c.541G>A (p.Val181Ile)
|
rs745646755
|
0.00004
|
NM_001382391.1(CSPP1):c.1034A>G (p.Asn345Ser)
|
rs1372095738
|
0.00004
|
NM_001382391.1(CSPP1):c.1432C>A (p.Pro478Thr)
|
rs371566997
|
0.00004
|
NM_001382391.1(CSPP1):c.1606A>C (p.Ser536Arg)
|
rs763307442
|
0.00004
|
NM_001382391.1(CSPP1):c.1827+5T>C
|
rs897591892
|
0.00004
|
NM_001382391.1(CSPP1):c.1983G>C (p.Leu661Phe)
|
rs374318063
|
0.00004
|
NM_001382391.1(CSPP1):c.2161C>T (p.Arg721Trp)
|
rs778822396
|
0.00004
|
NM_001382391.1(CSPP1):c.2282G>A (p.Arg761Lys)
|
rs753718429
|
0.00004
|
NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser)
|
rs750443075
|
0.00004
|
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu)
|
rs768603321
|
0.00004
|
NM_001382391.1(CSPP1):c.3613G>C (p.Glu1205Gln)
|
rs201972175
|
0.00004
|
NM_001382391.1(CSPP1):c.865A>G (p.Arg289Gly)
|
rs374744285
|
0.00004
|
NM_001382391.1(CSPP1):c.902C>T (p.Ser301Leu)
|
rs761172555
|
0.00004
|
NM_001382391.1(CSPP1):c.919G>A (p.Asp307Asn)
|
rs113092257
|
0.00004
|
NM_001481.3(GAS8):c.1024C>T (p.Arg342Trp)
|
rs768412907
|
0.00004
|
NM_001481.3(GAS8):c.1387G>A (p.Gly463Arg)
|
rs376265926
|
0.00004
|
NM_001481.3(GAS8):c.490C>T (p.Arg164Trp)
|
rs151099141
|
0.00004
|
NM_001481.3(GAS8):c.491G>A (p.Arg164Gln)
|
rs141287302
|
0.00004
|
NM_001481.3(GAS8):c.607C>T (p.Arg203Trp)
|
rs776412055
|
0.00004
|
NM_002601.4(PDE6D):c.364G>A (p.Val122Ile)
|
rs766118708
|
0.00004
|
NM_003114.5(SPAG1):c.1096+5A>C
|
rs768916975
|
0.00004
|
NM_003114.5(SPAG1):c.1579C>T (p.Arg527Trp)
|
rs777137396
|
0.00004
|
NM_003114.5(SPAG1):c.1591T>C (p.Tyr531His)
|
rs148641104
|
0.00004
|
NM_003114.5(SPAG1):c.2021A>G (p.Glu674Gly)
|
rs777946738
|
0.00004
|
NM_003114.5(SPAG1):c.2407C>T (p.Pro803Ser)
|
rs753601332
|
0.00004
|
NM_003114.5(SPAG1):c.427-3T>C
|
rs778136474
|
0.00004
|
NM_003611.3(OFD1):c.1490A>C (p.His497Pro)
|
rs772474080
|
0.00004
|
NM_003611.3(OFD1):c.2239G>A (p.Glu747Lys)
|
rs761915805
|
0.00004
|
NM_003611.3(OFD1):c.2700C>A (p.Asn900Lys)
|
rs770634301
|
0.00004
|
NM_006642.5(SDCCAG8):c.1492A>G (p.Ile498Val)
|
rs765529431
|
0.00004
|
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys)
|
rs190020173
|
0.00004
|
NM_012144.4(DNAI1):c.1235A>G (p.Asn412Ser)
|
rs1056525406
|
0.00004
|
NM_012144.4(DNAI1):c.1401+3G>A
|
rs759795923
|
0.00004
|
NM_012144.4(DNAI1):c.1693G>A (p.Val565Met)
|
rs139953639
|
0.00004
|
NM_012144.4(DNAI1):c.1913A>G (p.Asn638Ser)
|
rs201773877
|
0.00004
|
NM_012144.4(DNAI1):c.335C>G (p.Pro112Arg)
|
rs201313023
|
0.00004
|
NM_012144.4(DNAI1):c.371G>A (p.Arg124His)
|
rs759257177
|
0.00004
|
NM_012144.4(DNAI1):c.720G>T (p.Lys240Asn)
|
rs999905460
|
0.00004
|
NM_012210.4(TRIM32):c.1198C>T (p.Arg400Cys)
|
rs140059042
|
0.00004
|
NM_012210.4(TRIM32):c.127A>G (p.Ile43Val)
|
rs764366522
|
0.00004
|
NM_012210.4(TRIM32):c.1354C>T (p.Leu452Phe)
|
rs747067557
|
0.00004
|
NM_012210.4(TRIM32):c.1361T>C (p.Val454Ala)
|
rs781475334
|
0.00004
|
NM_012210.4(TRIM32):c.1384G>A (p.Val462Met)
|
rs772922696
|
0.00004
|
NM_012210.4(TRIM32):c.1544G>A (p.Arg515Gln)
|
rs781359060
|
0.00004
|
NM_012210.4(TRIM32):c.265G>A (p.Ala89Thr)
|
rs539376933
|
0.00004
|
NM_012210.4(TRIM32):c.302G>A (p.Arg101Gln)
|
rs758882829
|
0.00004
|
NM_012210.4(TRIM32):c.496C>T (p.Arg166Trp)
|
rs752016708
|
0.00004
|
NM_012210.4(TRIM32):c.986C>T (p.Pro329Leu)
|
rs377510422
|
0.00004
|
NM_014704.4(CEP104):c.342A>C (p.Lys114Asn)
|
rs779086283
|
0.00004
|
NM_014704.4(CEP104):c.46G>A (p.Glu16Lys)
|
rs200997681
|
0.00004
|
NM_014704.4(CEP104):c.535G>A (p.Glu179Lys)
|
rs765557028
|
0.00004
|
NM_014714.4(IFT140):c.1255G>A (p.Ala419Thr)
|
rs769337607
|
0.00004
|
NM_014714.4(IFT140):c.1271C>T (p.Pro424Leu)
|
rs780657545
|
0.00004
|
NM_014714.4(IFT140):c.1726C>T (p.Arg576Trp)
|
rs757678246
|
0.00004
|
NM_014714.4(IFT140):c.1789T>G (p.Ser597Ala)
|
rs771450990
|
0.00004
|
NM_014714.4(IFT140):c.2044C>A (p.Gln682Lys)
|
rs371064856
|
0.00004
|
NM_014714.4(IFT140):c.2066C>T (p.Ala689Val)
|
rs147290396
|
0.00004
|
NM_014714.4(IFT140):c.2119C>T (p.Leu707Phe)
|
rs141172132
|
0.00004
|
NM_014714.4(IFT140):c.2492G>A (p.Arg831His)
|
rs769046641
|
0.00004
|
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln)
|
rs771116194
|
0.00004
|
NM_014714.4(IFT140):c.2516C>T (p.Ala839Val)
|
rs145609033
|
0.00004
|
NM_014714.4(IFT140):c.2780C>T (p.Ser927Leu)
|
rs2040655109
|
0.00004
|
NM_014714.4(IFT140):c.3193G>A (p.Glu1065Lys)
|
rs373564205
|
0.00004
|
NM_014714.4(IFT140):c.3408C>G (p.His1136Gln)
|
rs374602347
|
0.00004
|
NM_014714.4(IFT140):c.3695A>G (p.Glu1232Gly)
|
rs774000109
|
0.00004
|
NM_014714.4(IFT140):c.3830G>A (p.Arg1277Gln)
|
rs756683299
|
0.00004
|
NM_014714.4(IFT140):c.3881T>C (p.Ile1294Thr)
|
rs539917190
|
0.00004
|
NM_014714.4(IFT140):c.4036C>T (p.Arg1346Cys)
|
rs556735183
|
0.00004
|
NM_014714.4(IFT140):c.4037G>A (p.Arg1346His)
|
rs144050063
|
0.00004
|
NM_014714.4(IFT140):c.4048A>G (p.Thr1350Ala)
|
rs756448762
|
0.00004
|
NM_014714.4(IFT140):c.4163G>A (p.Arg1388Gln)
|
rs369058620
|
0.00004
|
NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs)
|
rs753109181
|
0.00004
|
NM_014714.4(IFT140):c.526G>A (p.Gly176Ser)
|
rs201849591
|
0.00004
|
NM_014714.4(IFT140):c.593G>C (p.Gly198Ala)
|
rs983329531
|
0.00004
|
NM_014714.4(IFT140):c.628A>G (p.Met210Val)
|
rs749432087
|
0.00004
|
NM_014714.4(IFT140):c.69G>T (p.Trp23Cys)
|
rs139141440
|
0.00004
|
NM_014714.4(IFT140):c.903-5T>G
|
rs900599017
|
0.00004
|
NM_014956.5(CEP164):c.1495G>A (p.Glu499Lys)
|
rs763039493
|
0.00004
|
NM_014956.5(CEP164):c.1703C>T (p.Thr568Ile)
|
rs752334538
|
0.00004
|
NM_014956.5(CEP164):c.1853T>C (p.Met618Thr)
|
rs142108558
|
0.00004
|
NM_014956.5(CEP164):c.1860A>T (p.Gln620His)
|
rs745707423
|
0.00004
|
NM_014956.5(CEP164):c.190C>G (p.Pro64Ala)
|
rs138449146
|
0.00004
|
NM_014956.5(CEP164):c.1982G>A (p.Arg661Gln)
|
rs781063589
|
0.00004
|
NM_014956.5(CEP164):c.2002C>A (p.Gln668Lys)
|
rs375310104
|
0.00004
|
NM_014956.5(CEP164):c.2066+4A>G
|
rs577854690
|
0.00004
|
NM_014956.5(CEP164):c.2740C>T (p.Arg914Trp)
|
rs541217768
|
0.00004
|
NM_014956.5(CEP164):c.2854G>A (p.Ala952Thr)
|
rs773981726
|
0.00004
|
NM_014956.5(CEP164):c.3279C>T (p.Ser1093=)
|
rs766038184
|
0.00004
|
NM_014956.5(CEP164):c.3415C>T (p.Arg1139Cys)
|
rs374437787
|
0.00004
|
NM_014956.5(CEP164):c.499G>A (p.Val167Met)
|
rs748619597
|
0.00004
|
NM_014956.5(CEP164):c.529C>T (p.Arg177Cys)
|
rs774763557
|
0.00004
|
NM_014956.5(CEP164):c.779C>A (p.Thr260Lys)
|
rs776372232
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1061A>G (p.Glu354Gly)
|
rs752128105
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1401+4A>G
|
rs727503880
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1448T>C (p.Val483Ala)
|
rs146565951
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1628A>G (p.Asp543Gly)
|
rs776600721
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1805G>A (p.Arg602Gln)
|
rs902687917
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu)
|
rs374098422
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2167A>G (p.Ile723Val)
|
rs769280712
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys)
|
rs371763050
|
0.00004
|
NM_015272.5(RPGRIP1L):c.341A>G (p.Gln114Arg)
|
rs201413825
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp)
|
rs750930363
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3739G>A (p.Glu1247Lys)
|
rs201312119
|
0.00004
|
NM_015272.5(RPGRIP1L):c.709A>T (p.Arg237Trp)
|
rs369055168
|
0.00004
|
NM_015512.5(DNAH1):c.10070T>G (p.Leu3357Arg)
|
rs367975909
|
0.00004
|
NM_015512.5(DNAH1):c.10278+3C>G
|
rs760063063
|
0.00004
|
NM_015512.5(DNAH1):c.1030G>A (p.Glu344Lys)
|
rs775812913
|
0.00004
|
NM_015512.5(DNAH1):c.10448C>T (p.Ser3483Leu)
|
rs200066420
|
0.00004
|
NM_015512.5(DNAH1):c.10771G>C (p.Val3591Leu)
|
rs755963386
|
0.00004
|
NM_015512.5(DNAH1):c.10958T>C (p.Ile3653Thr)
|
rs780417209
|
0.00004
|
NM_015512.5(DNAH1):c.12058A>G (p.Met4020Val)
|
rs755049947
|
0.00004
|
NM_015512.5(DNAH1):c.12095A>G (p.Asn4032Ser)
|
rs759427194
|
0.00004
|
NM_015512.5(DNAH1):c.12191C>A (p.Ala4064Asp)
|
rs891517506
|
0.00004
|
NM_015512.5(DNAH1):c.1313C>G (p.Ala438Gly)
|
rs377236847
|
0.00004
|
NM_015512.5(DNAH1):c.1532C>T (p.Thr511Met)
|
rs200623391
|
0.00004
|
NM_015512.5(DNAH1):c.1897G>A (p.Val633Met)
|
rs770231874
|
0.00004
|
NM_015512.5(DNAH1):c.283C>T (p.Arg95Cys)
|
rs187716200
|
0.00004
|
NM_015512.5(DNAH1):c.3380A>G (p.Asn1127Ser)
|
rs200707455
|
0.00004
|
NM_015512.5(DNAH1):c.3438C>G (p.Ser1146Arg)
|
rs368850443
|
0.00004
|
NM_015512.5(DNAH1):c.3509C>T (p.Ser1170Leu)
|
rs376804969
|
0.00004
|
NM_015512.5(DNAH1):c.3834G>A (p.Met1278Ile)
|
rs1032198128
|
0.00004
|
NM_015512.5(DNAH1):c.4315G>A (p.Ala1439Thr)
|
rs768831672
|
0.00004
|
NM_015512.5(DNAH1):c.4490T>G (p.Val1497Gly)
|
rs749000098
|
0.00004
|
NM_015512.5(DNAH1):c.4807G>A (p.Val1603Ile)
|
rs773102484
|
0.00004
|
NM_015512.5(DNAH1):c.503T>C (p.Leu168Pro)
|
rs374290346
|
0.00004
|
NM_015512.5(DNAH1):c.5073G>A (p.Thr1691=)
|
rs370313624
|
0.00004
|
NM_015512.5(DNAH1):c.6258+5A>G
|
rs1311144381
|
0.00004
|
NM_015512.5(DNAH1):c.6788A>G (p.Asn2263Ser)
|
rs140407922
|
0.00004
|
NM_015512.5(DNAH1):c.6958G>A (p.Gly2320Ser)
|
rs199780515
|
0.00004
|
NM_015512.5(DNAH1):c.6974G>T (p.Arg2325Leu)
|
rs777773562
|
0.00004
|
NM_015512.5(DNAH1):c.7013A>C (p.Asn2338Thr)
|
rs745972734
|
0.00004
|
NM_015512.5(DNAH1):c.7090C>G (p.Leu2364Val)
|
rs185905489
|
0.00004
|
NM_015512.5(DNAH1):c.7484G>A (p.Arg2495His)
|
rs183867998
|
0.00004
|
NM_015512.5(DNAH1):c.7660G>A (p.Ala2554Thr)
|
rs369957070
|
0.00004
|
NM_015512.5(DNAH1):c.8272C>T (p.Leu2758Phe)
|
rs553174635
|
0.00004
|
NM_015512.5(DNAH1):c.9169C>T (p.Arg3057Trp)
|
rs200576671
|
0.00004
|
NM_015512.5(DNAH1):c.9568G>A (p.Glu3190Lys)
|
rs569771220
|
0.00004
|
NM_015512.5(DNAH1):c.9611G>A (p.Arg3204Gln)
|
rs970203810
|
0.00004
|
NM_015512.5(DNAH1):c.9734A>G (p.Lys3245Arg)
|
rs375983121
|
0.00004
|
NM_015512.5(DNAH1):c.9952G>A (p.Glu3318Lys)
|
rs921392815
|
0.00004
|
NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser)
|
rs755942179
|
0.00004
|
NM_015631.6(TCTN3):c.1590+4A>T
|
rs756071891
|
0.00004
|
NM_015631.6(TCTN3):c.326G>A (p.Cys109Tyr)
|
rs143758863
|
0.00004
|
NM_015631.6(TCTN3):c.627+6C>T
|
rs190843846
|
0.00004
|
NM_015662.3(IFT172):c.1100G>A (p.Arg367His)
|
rs755263642
|
0.00004
|
NM_015662.3(IFT172):c.1157G>A (p.Arg386Gln)
|
rs137868356
|
0.00004
|
NM_015662.3(IFT172):c.1247A>G (p.Glu416Gly)
|
rs779907319
|
0.00004
|
NM_015662.3(IFT172):c.1513C>T (p.Arg505Trp)
|
rs779152335
|
0.00004
|
NM_015662.3(IFT172):c.1691G>A (p.Arg564Lys)
|
rs148710037
|
0.00004
|
NM_015662.3(IFT172):c.1720G>A (p.Gly574Arg)
|
rs762521619
|
0.00004
|
NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp)
|
rs201921339
|
0.00004
|
NM_015662.3(IFT172):c.2222G>A (p.Arg741His)
|
rs1011923461
|
0.00004
|
NM_015662.3(IFT172):c.2231A>G (p.Tyr744Cys)
|
rs201991482
|
0.00004
|
NM_015662.3(IFT172):c.2443-3C>T
|
rs774328767
|
0.00004
|
NM_015662.3(IFT172):c.2818C>T (p.Arg940Trp)
|
rs760316903
|
0.00004
|
NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys)
|
rs762645007
|
0.00004
|
NM_015662.3(IFT172):c.2943G>A (p.Met981Ile)
|
rs779195226
|
0.00004
|
NM_015662.3(IFT172):c.3566G>A (p.Arg1189His)
|
rs367806691
|
0.00004
|
NM_015662.3(IFT172):c.3880C>T (p.Arg1294Cys)
|
rs369191459
|
0.00004
|
NM_015662.3(IFT172):c.4311+5T>C
|
rs756624999
|
0.00004
|
NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys)
|
rs557292146
|
0.00004
|
NM_015662.3(IFT172):c.4673C>T (p.Ala1558Val)
|
rs757464563
|
0.00004
|
NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile)
|
rs115716101
|
0.00004
|
NM_015662.3(IFT172):c.4867A>G (p.Thr1623Ala)
|
rs750991615
|
0.00004
|
NM_015662.3(IFT172):c.5000G>A (p.Arg1667His)
|
rs201017771
|
0.00004
|
NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp)
|
rs560831644
|
0.00004
|
NM_015662.3(IFT172):c.926G>C (p.Gly309Ala)
|
rs749612277
|
0.00004
|
NM_015662.3(IFT172):c.972C>G (p.Asn324Lys)
|
rs370874046
|
0.00004
|
NM_015681.6(B9D1):c.301C>G (p.Arg101Gly)
|
rs752718131
|
0.00004
|
NM_015681.6(B9D1):c.41A>G (p.Asn14Ser)
|
rs764022966
|
0.00004
|
NM_015681.6(B9D1):c.469G>A (p.Glu157Lys)
|
rs146272049
|
0.00004
|
NM_015896.4(ZMYND10):c.320T>C (p.Val107Ala)
|
rs751659076
|
0.00004
|
NM_015896.4(ZMYND10):c.611G>A (p.Ser204Asn)
|
rs201058230
|
0.00004
|
NM_015896.4(ZMYND10):c.622C>T (p.Arg208Cys)
|
rs769848204
|
0.00004
|
NM_015896.4(ZMYND10):c.692G>A (p.Arg231Gln)
|
rs773115830
|
0.00004
|
NM_015896.4(ZMYND10):c.724A>G (p.Ser242Gly)
|
rs761674579
|
0.00004
|
NM_015896.4(ZMYND10):c.778G>A (p.Gly260Arg)
|
rs774583071
|
0.00004
|
NM_015896.4(ZMYND10):c.862C>T (p.Arg288Trp)
|
rs1245120737
|
0.00004
|
NM_015910.7(WDPCP):c.124C>T (p.His42Tyr)
|
rs747767839
|
0.00004
|
NM_015910.7(WDPCP):c.1417G>A (p.Val473Met)
|
rs374807784
|
0.00004
|
NM_015910.7(WDPCP):c.159G>A (p.Ala53=)
|
rs192196713
|
0.00004
|
NM_015910.7(WDPCP):c.1624+6A>G
|
rs370961530
|
0.00004
|
NM_015910.7(WDPCP):c.209C>T (p.Ala70Val)
|
rs141761524
|
0.00004
|
NM_016464.5(TMEM138):c.193G>A (p.Val65Ile)
|
rs763118625
|
0.00004
|
NM_016464.5(TMEM138):c.377-3C>T
|
rs774110963
|
0.00004
|
NM_016616.5(NME8):c.1269G>A (p.Met423Ile)
|
rs761626831
|
0.00004
|
NM_016616.5(NME8):c.1643C>T (p.Ser548Phe)
|
rs199621229
|
0.00004
|
NM_016616.5(NME8):c.1648G>T (p.Asp550Tyr)
|
rs772853800
|
0.00004
|
NM_016616.5(NME8):c.1729G>A (p.Val577Ile)
|
rs770045061
|
0.00004
|
NM_016616.5(NME8):c.198C>T (p.Val66=)
|
rs748684004
|
0.00004
|
NM_016616.5(NME8):c.485C>T (p.Pro162Leu)
|
rs200863038
|
0.00004
|
NM_017777.4(MKS1):c.1273+6C>T
|
rs371480628
|
0.00004
|
NM_017777.4(MKS1):c.36G>T (p.Glu12Asp)
|
rs1386455261
|
0.00004
|
NM_017777.4(MKS1):c.869G>A (p.Arg290Gln)
|
rs755840522
|
0.00004
|
NM_017802.4(DNAAF5):c.1715C>T (p.Ala572Val)
|
rs147690117
|
0.00004
|
NM_017802.4(DNAAF5):c.1816G>A (p.Val606Met)
|
rs200034358
|
0.00004
|
NM_017802.4(DNAAF5):c.22G>C (p.Glu8Gln)
|
rs1337745093
|
0.00004
|
NM_017802.4(DNAAF5):c.2375G>A (p.Arg792Gln)
|
rs772102523
|
0.00004
|
NM_017802.4(DNAAF5):c.67G>C (p.Glu23Gln)
|
rs1443526471
|
0.00004
|
NM_017802.4(DNAAF5):c.69G>T (p.Glu23Asp)
|
rs540763017
|
0.00004
|
NM_017950.4(CCDC40):c.2377G>A (p.Glu793Lys)
|
rs367812804
|
0.00004
|
NM_017950.4(CCDC40):c.23C>G (p.Ala8Gly)
|
rs751298635
|
0.00004
|
NM_017950.4(CCDC40):c.2876G>A (p.Arg959His)
|
rs369114517
|
0.00004
|
NM_017950.4(CCDC40):c.290A>G (p.Tyr97Cys)
|
rs761769193
|
0.00004
|
NM_017950.4(CCDC40):c.3180+6C>G
|
rs753716586
|
0.00004
|
NM_017950.4(CCDC40):c.3344G>A (p.Arg1115Gln)
|
rs771414681
|
0.00004
|
NM_017950.4(CCDC40):c.506C>T (p.Ser169Leu)
|
rs369066468
|
0.00004
|
NM_017950.4(CCDC40):c.614G>A (p.Arg205Gln)
|
rs572093892
|
0.00004
|
NM_017950.4(CCDC40):c.637G>A (p.Glu213Lys)
|
rs372360189
|
0.00004
|
NM_017950.4(CCDC40):c.662T>C (p.Val221Ala)
|
rs760951742
|
0.00004
|
NM_017950.4(CCDC40):c.910G>A (p.Glu304Lys)
|
rs757404529
|
0.00004
|
NM_018051.5(DYNC2I1):c.1293C>T (p.Gly431=)
|
rs369015842
|
0.00004
|
NM_018051.5(DYNC2I1):c.1609G>A (p.Glu537Lys)
|
rs537240153
|
0.00004
|
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys)
|
rs193204571
|
0.00004
|
NM_018051.5(DYNC2I1):c.2464G>A (p.Ala822Thr)
|
rs566913816
|
0.00004
|
NM_018051.5(DYNC2I1):c.2485+5C>A
|
rs771294563
|
0.00004
|
NM_018051.5(DYNC2I1):c.2512C>G (p.Leu838Val)
|
rs770020503
|
0.00004
|
NM_018051.5(DYNC2I1):c.2767C>T (p.Pro923Ser)
|
rs770977639
|
0.00004
|
NM_018051.5(DYNC2I1):c.986G>A (p.Arg329Gln)
|
rs777602096
|
0.00004
|
NM_018076.5(ODAD2):c.1174A>G (p.Lys392Glu)
|
rs761673868
|
0.00004
|
NM_018076.5(ODAD2):c.1484G>A (p.Gly495Asp)
|
rs138924660
|
0.00004
|
NM_018076.5(ODAD2):c.1730G>T (p.Gly577Val)
|
rs763869311
|
0.00004
|
NM_018076.5(ODAD2):c.2567C>T (p.Ala856Val)
|
rs1241280737
|
0.00004
|
NM_018076.5(ODAD2):c.2823T>G (p.His941Gln)
|
rs575075615
|
0.00004
|
NM_018076.5(ODAD2):c.2909G>A (p.Arg970His)
|
rs772636599
|
0.00004
|
NM_018076.5(ODAD2):c.529C>G (p.Gln177Glu)
|
rs569047328
|
0.00004
|
NM_018076.5(ODAD2):c.86C>T (p.Ala29Val)
|
rs200574441
|
0.00004
|
NM_018139.3(DNAAF2):c.1128C>G (p.Asp376Glu)
|
rs764335344
|
0.00004
|
NM_018139.3(DNAAF2):c.122A>C (p.Glu41Ala)
|
rs1452570914
|
0.00004
|
NM_018139.3(DNAAF2):c.1391G>A (p.Gly464Asp)
|
rs1024449397
|
0.00004
|
NM_018139.3(DNAAF2):c.1442C>A (p.Ala481Glu)
|
rs372054376
|
0.00004
|
NM_018139.3(DNAAF2):c.1983T>A (p.Asp661Glu)
|
rs758897357
|
0.00004
|
NM_018139.3(DNAAF2):c.2007+5G>A
|
rs757313579
|
0.00004
|
NM_018139.3(DNAAF2):c.343C>G (p.Pro115Ala)
|
rs931555570
|
0.00004
|
NM_018139.3(DNAAF2):c.365C>T (p.Pro122Leu)
|
rs958625302
|
0.00004
|
NM_018139.3(DNAAF2):c.734C>T (p.Ala245Val)
|
rs754858452
|
0.00004
|
NM_018139.3(DNAAF2):c.937A>G (p.Lys313Glu)
|
rs777195189
|
0.00004
|
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys)
|
rs371812716
|
0.00004
|
NM_018718.3(CEP41):c.13A>G (p.Arg5Gly)
|
rs782048004
|
0.00004
|
NM_018718.3(CEP41):c.716T>C (p.Met239Thr)
|
rs200882016
|
0.00004
|
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu)
|
rs200709703
|
0.00004
|
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg)
|
rs782392521
|
0.00004
|
NM_019892.6(INPP5E):c.1036C>T (p.Arg346Trp)
|
rs767855660
|
0.00004
|
NM_019892.6(INPP5E):c.10A>C (p.Lys4Gln)
|
rs894617448
|
0.00004
|
NM_019892.6(INPP5E):c.1189A>G (p.Ile397Val)
|
rs140705002
|
0.00004
|
NM_019892.6(INPP5E):c.1192G>A (p.Val398Met)
|
rs200033750
|
0.00004
|
NM_019892.6(INPP5E):c.121G>A (p.Asp41Asn)
|
rs778156063
|
0.00004
|
NM_019892.6(INPP5E):c.1389G>A (p.Ala463=)
|
rs779735920
|
0.00004
|
NM_019892.6(INPP5E):c.301G>C (p.Glu101Gln)
|
rs566641584
|
0.00004
|
NM_019892.6(INPP5E):c.331C>T (p.Pro111Ser)
|
rs766472975
|
0.00004
|
NM_019892.6(INPP5E):c.510C>G (p.Asn170Lys)
|
rs778210239
|
0.00004
|
NM_019892.6(INPP5E):c.593G>C (p.Ser198Thr)
|
rs141286608
|
0.00004
|
NM_019892.6(INPP5E):c.655T>G (p.Tyr219Asp)
|
rs374690864
|
0.00004
|
NM_019892.6(INPP5E):c.754T>C (p.Ser252Pro)
|
rs775406790
|
0.00004
|
NM_020779.4(WDR35):c.1529G>A (p.Arg510His)
|
rs763031783
|
0.00004
|
NM_020779.4(WDR35):c.1637G>A (p.Arg546His)
|
rs529313875
|
0.00004
|
NM_020779.4(WDR35):c.2278A>G (p.Ile760Val)
|
rs370956261
|
0.00004
|
NM_020779.4(WDR35):c.2891C>G (p.Ala964Gly)
|
rs1281384371
|
0.00004
|
NM_020779.4(WDR35):c.3307A>T (p.Thr1103Ser)
|
rs774898515
|
0.00004
|
NM_020779.4(WDR35):c.551A>G (p.Asp184Gly)
|
rs370873468
|
0.00004
|
NM_020779.4(WDR35):c.742G>A (p.Val248Ile)
|
rs372968757
|
0.00004
|
NM_020800.3(IFT80):c.209G>A (p.Gly70Asp)
|
rs752892324
|
0.00004
|
NM_020800.3(IFT80):c.394A>C (p.Ile132Leu)
|
rs376849101
|
0.00004
|
NM_020800.3(IFT80):c.659G>A (p.Arg220His)
|
rs754818191
|
0.00004
|
NM_020800.3(IFT80):c.757C>T (p.Arg253Cys)
|
rs138656118
|
0.00004
|
NM_020800.3(IFT80):c.835A>G (p.Ile279Val)
|
rs772283130
|
0.00004
|
NM_021147.5(CCNO):c.16C>A (p.Pro6Thr)
|
rs1299342018
|
0.00004
|
NM_021147.5(CCNO):c.688G>A (p.Ala230Thr)
|
rs553351741
|
0.00004
|
NM_021147.5(CCNO):c.851C>T (p.Ala284Val)
|
rs1000287085
|
0.00004
|
NM_023036.6(DNAI2):c.1375C>T (p.Arg459Trp)
|
rs1305647043
|
0.00004
|
NM_023036.6(DNAI2):c.1494C>T (p.Ser498=)
|
rs761516740
|
0.00004
|
NM_023036.6(DNAI2):c.325G>A (p.Ala109Thr)
|
rs192790912
|
0.00004
|
NM_023036.6(DNAI2):c.565C>T (p.Arg189Trp)
|
rs138885031
|
0.00004
|
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile)
|
rs750750518
|
0.00004
|
NM_024649.5(BBS1):c.1246G>T (p.Gly416Cys)
|
rs202201758
|
0.00004
|
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu)
|
rs746206916
|
0.00004
|
NM_024649.5(BBS1):c.163G>A (p.Val55Met)
|
rs181765153
|
0.00004
|
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile)
|
rs111358560
|
0.00004
|
NM_024649.5(BBS1):c.175C>G (p.Leu59Val)
|
rs113822005
|
0.00004
|
NM_024649.5(BBS1):c.274T>C (p.Phe92Leu)
|
rs778339359
|
0.00004
|
NM_024649.5(BBS1):c.485C>T (p.Thr162Met)
|
rs148576114
|
0.00004
|
NM_024649.5(BBS1):c.745G>A (p.Val249Ile)
|
rs139145556
|
0.00004
|
NM_024649.5(BBS1):c.88C>A (p.Pro30Thr)
|
rs368510687
|
0.00004
|
NM_024649.5(BBS1):c.908T>C (p.Val303Ala)
|
rs750668484
|
0.00004
|
NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg)
|
rs1021050605
|
0.00004
|
NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp)
|
rs144402299
|
0.00004
|
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His)
|
rs141647931
|
0.00004
|
NM_024685.4(BBS10):c.1882A>G (p.Met628Val)
|
rs760505134
|
0.00004
|
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala)
|
rs766733372
|
0.00004
|
NM_024753.5(TTC21B):c.1573T>C (p.Tyr525His)
|
rs377009251
|
0.00004
|
NM_024753.5(TTC21B):c.1768A>G (p.Met590Val)
|
rs777733112
|
0.00004
|
NM_024753.5(TTC21B):c.1847G>A (p.Arg616His)
|
rs780307963
|
0.00004
|
NM_024753.5(TTC21B):c.1963C>T (p.Arg655Trp)
|
rs138937289
|
0.00004
|
NM_024753.5(TTC21B):c.1964G>A (p.Arg655Gln)
|
rs748141161
|
0.00004
|
NM_024753.5(TTC21B):c.2060T>G (p.Phe687Cys)
|
rs370846838
|
0.00004
|
NM_024753.5(TTC21B):c.3556A>G (p.Met1186Val)
|
rs376308209
|
0.00004
|
NM_024753.5(TTC21B):c.361A>G (p.Ile121Val)
|
rs373353875
|
0.00004
|
NM_024753.5(TTC21B):c.367C>T (p.Arg123Cys)
|
rs775370323
|
0.00004
|
NM_024753.5(TTC21B):c.3788G>A (p.Arg1263Gln)
|
rs201495700
|
0.00004
|
NM_024753.5(TTC21B):c.569T>A (p.Met190Lys)
|
rs200374808
|
0.00004
|
NM_024753.5(TTC21B):c.616G>A (p.Val206Met)
|
rs370956667
|
0.00004
|
NM_024753.5(TTC21B):c.796-3T>C
|
rs794727932
|
0.00004
|
NM_024809.5(TCTN2):c.1055T>A (p.Ile352Asn)
|
rs762326056
|
0.00004
|
NM_024809.5(TCTN2):c.1337G>A (p.Arg446Gln)
|
rs781699024
|
0.00004
|
NM_024809.5(TCTN2):c.1402G>A (p.Gly468Ser)
|
rs148262537
|
0.00004
|
NM_024809.5(TCTN2):c.1474G>T (p.Val492Phe)
|
rs1449279317
|
0.00004
|
NM_024809.5(TCTN2):c.2066G>C (p.Trp689Ser)
|
rs771335558
|
0.00004
|
NM_024809.5(TCTN2):c.577A>C (p.Asn193His)
|
rs370944870
|
0.00004
|
NM_024809.5(TCTN2):c.979T>C (p.Tyr327His)
|
rs545101214
|
0.00004
|
NM_025114.4(CEP290):c.1712-3T>C
|
rs376688469
|
0.00004
|
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys)
|
rs761705359
|
0.00004
|
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala)
|
rs969763835
|
0.00004
|
NM_025114.4(CEP290):c.2218A>G (p.Ile740Val)
|
rs754736974
|
0.00004
|
NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp)
|
rs372321551
|
0.00004
|
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val)
|
rs1038566350
|
0.00004
|
NM_025114.4(CEP290):c.3230A>G (p.Gln1077Arg)
|
rs200668620
|
0.00004
|
NM_025114.4(CEP290):c.332G>A (p.Arg111Gln)
|
rs562747993
|
0.00004
|
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His)
|
rs763801479
|
0.00004
|
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His)
|
rs774144082
|
0.00004
|
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)
|
rs548558619
|
0.00004
|
NM_025114.4(CEP290):c.4132A>G (p.Ile1378Val)
|
rs532041890
|
0.00004
|
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)
|
rs143152287
|
0.00004
|
NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val)
|
rs762417751
|
0.00004
|
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln)
|
rs568197175
|
0.00004
|
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)
|
rs535531689
|
0.00004
|
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)
|
rs186330724
|
0.00004
|
NM_025114.4(CEP290):c.5724A>C (p.Glu1908Asp)
|
rs769370948
|
0.00004
|
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly)
|
rs987259388
|
0.00004
|
NM_025114.4(CEP290):c.7079A>C (p.His2360Pro)
|
rs1006780282
|
0.00004
|
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)
|
rs866480852
|
0.00004
|
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys)
|
rs201148758
|
0.00004
|
NM_025132.4(WDR19):c.1748C>T (p.Thr583Ile)
|
rs1286484497
|
0.00004
|
NM_025132.4(WDR19):c.1942G>A (p.Glu648Lys)
|
rs377367588
|
0.00004
|
NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr)
|
rs768082694
|
0.00004
|
NM_025132.4(WDR19):c.2786G>A (p.Arg929His)
|
rs201685269
|
0.00004
|
NM_025132.4(WDR19):c.3184-3C>T
|
rs750130004
|
0.00004
|
NM_025132.4(WDR19):c.3247G>A (p.Asp1083Asn)
|
rs376167184
|
0.00004
|
NM_025132.4(WDR19):c.3281G>A (p.Arg1094His)
|
rs781620821
|
0.00004
|
NM_025132.4(WDR19):c.3474A>G (p.Ile1158Met)
|
rs760312911
|
0.00004
|
NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn)
|
rs750250561
|
0.00004
|
NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp)
|
rs754690461
|
0.00004
|
NM_025132.4(WDR19):c.427A>T (p.Thr143Ser)
|
rs1300821144
|
0.00004
|
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)
|
rs375644378
|
0.00004
|
NM_031427.4(DNAL1):c.43-4A>G
|
rs748496499
|
0.00004
|
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val)
|
rs376380339
|
0.00004
|
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys)
|
rs746505864
|
0.00004
|
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp)
|
rs372135700
|
0.00004
|
NM_031885.5(BBS2):c.320A>G (p.Asn107Ser)
|
rs1292834581
|
0.00004
|
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser)
|
rs144680278
|
0.00004
|
NM_031885.5(BBS2):c.61A>G (p.Ile21Val)
|
rs1319616745
|
0.00004
|
NM_031885.5(BBS2):c.962C>T (p.Thr321Met)
|
rs758548498
|
0.00004
|
NM_031924.8(RSPH3):c.-120C>A
|
rs140068249
|
0.00004
|
NM_031924.8(RSPH3):c.-185G>A
|
rs1335094606
|
0.00004
|
NM_031924.8(RSPH3):c.-321C>T
|
rs546435437
|
0.00004
|
NM_031924.8(RSPH3):c.701G>A (p.Arg234Gln)
|
rs149769974
|
0.00004
|
NM_031924.8(RSPH3):c.763G>A (p.Ala255Thr)
|
rs376531718
|
0.00004
|
NM_033028.5(BBS4):c.1009A>T (p.Met337Leu)
|
rs1021016026
|
0.00004
|
NM_033028.5(BBS4):c.1073A>G (p.Lys358Arg)
|
rs149577332
|
0.00004
|
NM_033028.5(BBS4):c.1157G>A (p.Gly386Asp)
|
rs143607861
|
0.00004
|
NM_033028.5(BBS4):c.1171G>A (p.Ala391Thr)
|
rs370963556
|
0.00004
|
NM_033028.5(BBS4):c.1193T>C (p.Met398Thr)
|
rs760437306
|
0.00004
|
NM_033028.5(BBS4):c.405+6T>C
|
rs926942882
|
0.00004
|
NM_033028.5(BBS4):c.986C>T (p.Ala329Val)
|
rs201987100
|
0.00004
|
NM_033124.5(CCDC65):c.1298G>T (p.Arg433Leu)
|
rs766802543
|
0.00004
|
NM_033124.5(CCDC65):c.184A>G (p.Asn62Asp)
|
rs118071072
|
0.00004
|
NM_033124.5(CCDC65):c.263T>C (p.Phe88Ser)
|
rs148153593
|
0.00004
|
NM_033124.5(CCDC65):c.773T>C (p.Ile258Thr)
|
rs199888057
|
0.00004
|
NM_033124.5(CCDC65):c.994A>G (p.Thr332Ala)
|
rs145598728
|
0.00004
|
NM_052844.4(DYNC2I2):c.1246C>T (p.His416Tyr)
|
rs371747861
|
0.00004
|
NM_052844.4(DYNC2I2):c.299C>T (p.Pro100Leu)
|
rs202215428
|
0.00004
|
NM_052844.4(DYNC2I2):c.637G>A (p.Val213Met)
|
rs369755261
|
0.00004
|
NM_052844.4(DYNC2I2):c.746G>A (p.Arg249His)
|
rs774756722
|
0.00004
|
NM_052844.4(DYNC2I2):c.899G>T (p.Gly300Val)
|
rs1200480566
|
0.00004
|
NM_080860.4(RSPH1):c.205G>A (p.Gly69Arg)
|
rs368878819
|
0.00004
|
NM_080860.4(RSPH1):c.835C>T (p.Arg279Trp)
|
rs373429437
|
0.00004
|
NM_144596.4(TTC8):c.1052G>A (p.Arg351Gln)
|
rs779617849
|
0.00004
|
NM_144596.4(TTC8):c.114+6G>C
|
rs370326452
|
0.00004
|
NM_144596.4(TTC8):c.800T>A (p.Val267Asp)
|
rs770333148
|
0.00004
|
NM_145038.5(DRC1):c.1226C>T (p.Ala409Val)
|
rs754270018
|
0.00004
|
NM_145038.5(DRC1):c.1391G>A (p.Arg464His)
|
rs200271366
|
0.00004
|
NM_145038.5(DRC1):c.1560G>C (p.Gln520His)
|
rs1251505912
|
0.00004
|
NM_145038.5(DRC1):c.1599C>T (p.Ser533=)
|
rs377416255
|
0.00004
|
NM_145038.5(DRC1):c.926A>G (p.Tyr309Cys)
|
rs1395219877
|
0.00004
|
NM_145045.5(ODAD3):c.568C>G (p.Leu190Val)
|
rs770832815
|
0.00004
|
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg)
|
rs369076839
|
0.00004
|
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln)
|
rs573448772
|
0.00004
|
NM_147127.5(EVC2):c.3482C>T (p.Ser1161Leu)
|
rs145071652
|
0.00004
|
NM_147127.5(EVC2):c.983G>A (p.Gly328Glu)
|
rs370838180
|
0.00004
|
NM_147127.5(EVC2):c.986A>G (p.Asn329Ser)
|
rs368314615
|
0.00004
|
NM_152384.3(BBS5):c.185T>C (p.Leu62Ser)
|
rs370501865
|
0.00004
|
NM_152384.3(BBS5):c.475C>T (p.His159Tyr)
|
rs757525125
|
0.00004
|
NM_152384.3(BBS5):c.770A>G (p.Tyr257Cys)
|
rs376537695
|
0.00004
|
NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg)
|
rs201158536
|
0.00004
|
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg)
|
rs1487383886
|
0.00004
|
NM_152618.3(BBS12):c.1411G>A (p.Val471Met)
|
rs140675688
|
0.00004
|
NM_152618.3(BBS12):c.1712A>G (p.Asn571Ser)
|
rs371908294
|
0.00004
|
NM_152618.3(BBS12):c.1A>C (p.Met1Leu)
|
rs750366365
|
0.00004
|
NM_152618.3(BBS12):c.2024G>A (p.Arg675Gln)
|
rs144843913
|
0.00004
|
NM_152618.3(BBS12):c.2094G>C (p.Gln698His)
|
rs373082306
|
0.00004
|
NM_152618.3(BBS12):c.68C>T (p.Ala23Val)
|
rs200240034
|
0.00004
|
NM_152618.3(BBS12):c.809A>C (p.Glu270Ala)
|
rs915644000
|
0.00004
|
NM_152732.5(RSPH9):c.760C>T (p.Arg254Cys)
|
rs200193470
|
0.00004
|
NM_153704.6(TMEM67):c.1033A>G (p.Lys345Glu)
|
rs764304394
|
0.00004
|
NM_153704.6(TMEM67):c.1352G>A (p.Arg451Gln)
|
rs75165625
|
0.00004
|
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu)
|
rs780823805
|
0.00004
|
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met)
|
rs771551765
|
0.00004
|
NM_153704.6(TMEM67):c.2932G>A (p.Val978Ile)
|
rs371965185
|
0.00004
|
NM_153704.6(TMEM67):c.31A>G (p.Met11Val)
|
rs758761945
|
0.00004
|
NM_153704.6(TMEM67):c.599G>A (p.Ser200Asn)
|
rs1284289042
|
0.00004
|
NM_153704.6(TMEM67):c.978+5A>C
|
rs1022082198
|
0.00004
|
NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln)
|
rs769351856
|
0.00004
|
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn)
|
rs150923920
|
0.00004
|
NM_153717.3(EVC):c.1825C>T (p.Arg609Trp)
|
rs748220728
|
0.00004
|
NM_153717.3(EVC):c.455C>T (p.Pro152Leu)
|
rs371671127
|
0.00004
|
NM_153717.3(EVC):c.580C>T (p.Arg194Trp)
|
rs757990300
|
0.00004
|
NM_170784.3(MKKS):c.1511G>A (p.Ser504Asn)
|
rs776107451
|
0.00004
|
NM_170784.3(MKKS):c.202T>G (p.Leu68Val)
|
rs200836375
|
0.00004
|
NM_170784.3(MKKS):c.463C>T (p.Arg155Cys)
|
rs755050269
|
0.00004
|
NM_170784.3(MKKS):c.7C>T (p.Arg3Cys)
|
rs779042065
|
0.00004
|
NM_176824.3(BBS7):c.2042A>T (p.Lys681Ile)
|
rs534408910
|
0.00004
|
NM_176824.3(BBS7):c.863G>A (p.Ser288Asn)
|
rs750276510
|
0.00004
|
NM_176824.3(BBS7):c.974A>G (p.Glu325Gly)
|
rs1255872676
|
0.00004
|
NM_178452.6(DNAAF1):c.1948C>A (p.Leu650Ile)
|
rs759644657
|
0.00004
|
NM_178452.6(DNAAF1):c.1954G>A (p.Asp652Asn)
|
rs113845425
|
0.00004
|
NM_178452.6(DNAAF1):c.359A>T (p.Asp120Val)
|
rs143005689
|
0.00004
|
NM_178452.6(DNAAF1):c.767C>T (p.Pro256Leu)
|
rs764943936
|
0.00004
|
NM_181426.2(CCDC39):c.137G>A (p.Arg46His)
|
rs376716008
|
0.00004
|
NM_181426.2(CCDC39):c.1665+3G>A
|
rs763769524
|
0.00004
|
NM_181426.2(CCDC39):c.1960G>A (p.Gly654Arg)
|
rs371143749
|
0.00004
|
NM_181426.2(CCDC39):c.2387T>C (p.Leu796Ser)
|
rs377454931
|
0.00004
|
NM_181426.2(CCDC39):c.2406+6G>A
|
rs528695350
|
0.00004
|
NM_181426.2(CCDC39):c.2762C>T (p.Pro921Leu)
|
rs745692945
|
0.00004
|
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr)
|
rs758493174
|
0.00004
|
NM_181426.2(CCDC39):c.626C>G (p.Ala209Gly)
|
rs371857720
|
0.00004
|
NM_181426.2(CCDC39):c.795G>T (p.Lys265Asn)
|
rs761112741
|
0.00004
|
NM_181426.2(CCDC39):c.816G>T (p.Glu272Asp)
|
rs775659100
|
0.00004
|
NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp)
|
rs1312526837
|
0.00004
|
NM_198428.3(BBS9):c.1237G>A (p.Val413Ile)
|
rs778518775
|
0.00004
|
NM_198428.3(BBS9):c.1293G>C (p.Glu431Asp)
|
rs767170924
|
0.00004
|
NM_198428.3(BBS9):c.1322C>T (p.Thr441Met)
|
rs140675013
|
0.00004
|
NM_198428.3(BBS9):c.1468T>C (p.Tyr490His)
|
rs760084192
|
0.00004
|
NM_198428.3(BBS9):c.1889A>G (p.Lys630Arg)
|
rs561404900
|
0.00004
|
NM_198428.3(BBS9):c.2215G>A (p.Ala739Thr)
|
rs369881355
|
0.00004
|
NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe)
|
rs779871496
|
0.00004
|
NM_198428.3(BBS9):c.2550C>A (p.Asp850Glu)
|
rs768072201
|
0.00004
|
NM_198428.3(BBS9):c.2605C>T (p.His869Tyr)
|
rs938197989
|
0.00004
|
NM_198428.3(BBS9):c.2632G>T (p.Glu878Ter)
|
rs150826095
|
0.00004
|
NM_198428.3(BBS9):c.2657C>T (p.Ser886Leu)
|
rs779169794
|
0.00004
|
NM_198428.3(BBS9):c.559A>G (p.Ser187Gly)
|
rs771447042
|
0.00004
|
NM_198428.3(BBS9):c.58T>G (p.Phe20Val)
|
rs779638896
|
0.00004
|
NM_198428.3(BBS9):c.702+6G>A
|
rs777329822
|
0.00004
|
NM_198428.3(BBS9):c.809G>C (p.Cys270Ser)
|
rs763742314
|
0.00004
|
NM_198428.3(BBS9):c.974A>G (p.Gln325Arg)
|
rs377207430
|
0.00004
|
NM_198525.3(KIF7):c.1120G>T (p.Gly374Cys)
|
rs1233260819
|
0.00004
|
NM_198525.3(KIF7):c.124C>G (p.Pro42Ala)
|
rs769021701
|
0.00004
|
NM_198525.3(KIF7):c.1433G>A (p.Gly478Asp)
|
rs1040813926
|
0.00004
|
NM_198525.3(KIF7):c.1585G>C (p.Glu529Gln)
|
rs377625808
|
0.00004
|
NM_198525.3(KIF7):c.1663C>T (p.Pro555Ser)
|
rs151155363
|
0.00004
|
NM_198525.3(KIF7):c.1958C>T (p.Ala653Val)
|
rs776343307
|
0.00004
|
NM_198525.3(KIF7):c.2071C>T (p.Arg691Cys)
|
rs536188566
|
0.00004
|
NM_198525.3(KIF7):c.2176G>A (p.Glu726Lys)
|
rs543188623
|
0.00004
|
NM_198525.3(KIF7):c.2186G>A (p.Arg729His)
|
rs142420701
|
0.00004
|
NM_198525.3(KIF7):c.2371G>A (p.Ala791Thr)
|
rs748254377
|
0.00004
|
NM_198525.3(KIF7):c.2393A>G (p.Gln798Arg)
|
rs201612675
|
0.00004
|
NM_198525.3(KIF7):c.2410A>C (p.Lys804Gln)
|
rs747460072
|
0.00004
|
NM_198525.3(KIF7):c.2459G>A (p.Arg820Gln)
|
rs374638470
|
0.00004
|
NM_198525.3(KIF7):c.2815C>T (p.Arg939Trp)
|
rs142786336
|
0.00004
|
NM_198525.3(KIF7):c.3815C>T (p.Pro1272Leu)
|
rs765907353
|
0.00004
|
NM_198525.3(KIF7):c.3977G>A (p.Arg1326Gln)
|
rs141225908
|
0.00004
|
NM_198525.3(KIF7):c.50G>A (p.Arg17Gln)
|
rs949983017
|
0.00004
|
NM_198525.3(KIF7):c.517C>T (p.Arg173Cys)
|
rs559797970
|
0.00004
|
NM_198525.3(KIF7):c.887G>A (p.Gly296Asp)
|
rs776621314
|
0.00004
|
NM_213607.3(CCDC103):c.197G>A (p.Gly66Glu)
|
rs199961859
|
0.00004
|
NM_213607.3(CCDC103):c.353A>C (p.Glu118Ala)
|
rs758916687
|
0.00004
|
NM_213607.3(CCDC103):c.470C>T (p.Pro157Leu)
|
rs1159140845
|
0.00004
|
NM_213607.3(CCDC103):c.710A>G (p.Glu237Gly)
|
rs759937836
|
0.00004
|
NM_001006657.2(WDR35):c.1206G>T (p.Glu402Asp)
|
rs762190195
|
0.00003
|
NM_001044385.3(TMEM237):c.104A>C (p.Lys35Thr)
|
rs776825848
|
0.00003
|
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val)
|
rs957203033
|
0.00003
|
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp)
|
rs972949531
|
0.00003
|
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly)
|
rs771350638
|
0.00003
|
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr)
|
rs772074875
|
0.00003
|
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val)
|
rs768672107
|
0.00003
|
NM_001044385.3(TMEM237):c.869+4A>G
|
rs771107990
|
0.00003
|
NM_001077418.2(TMEM231):c.-46G>A
|
rs752769188
|
0.00003
|
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser)
|
rs372775075
|
0.00003
|
NM_001077418.3(TMEM231):c.41G>A (p.Ser14Asn)
|
rs769321473
|
0.00003
|
NM_001077418.3(TMEM231):c.431G>A (p.Arg144Gln)
|
rs1033608835
|
0.00003
|
NM_001082538.3(TCTN1):c.1282C>T (p.Arg428Trp)
|
rs572643772
|
0.00003
|
NM_001082538.3(TCTN1):c.1421T>C (p.Phe474Ser)
|
rs368668920
|
0.00003
|
NM_001082538.3(TCTN1):c.1463T>C (p.Ile488Thr)
|
rs1291891063
|
0.00003
|
NM_001082538.3(TCTN1):c.211G>A (p.Val71Ile)
|
rs776696098
|
0.00003
|
NM_001082538.3(TCTN1):c.438T>G (p.Ile146Met)
|
rs370390020
|
0.00003
|
NM_001082538.3(TCTN1):c.527A>G (p.Asp176Gly)
|
rs771704189
|
0.00003
|
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg)
|
rs200355875
|
0.00003
|
NM_001134831.2(AHI1):c.2761C>T (p.His921Tyr)
|
rs367875262
|
0.00003
|
NM_001134831.2(AHI1):c.3160C>G (p.Pro1054Ala)
|
rs201691998
|
0.00003
|
NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile)
|
rs891027780
|
0.00003
|
NM_001134831.2(AHI1):c.3448T>A (p.Ser1150Thr)
|
rs750439539
|
0.00003
|
NM_001173990.3(TMEM216):c.230-14G>T
|
rs765197757
|
0.00003
|
NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg)
|
rs35314485
|
0.00003
|
NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter)
|
rs779260568
|
0.00003
|
NM_001174150.2(ARL13B):c.397G>T (p.Asp133Tyr)
|
rs140290819
|
0.00003
|
NM_001174150.2(ARL13B):c.811C>G (p.Leu271Val)
|
rs1232686117
|
0.00003
|
NM_001190787.3(MCIDAS):c.165C>G (p.Ser55Arg)
|
rs1031493457
|
0.00003
|
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly)
|
rs35763578
|
0.00003
|
NM_001199397.3(NEK1):c.1793A>G (p.Asn598Ser)
|
rs61735896
|
0.00003
|
NM_001199397.3(NEK1):c.2353C>T (p.Arg785Cys)
|
rs374639577
|
0.00003
|
NM_001199397.3(NEK1):c.2687C>T (p.Ser896Phe)
|
rs1048939661
|
0.00003
|
NM_001199397.3(NEK1):c.2815A>G (p.Lys939Glu)
|
rs370930011
|
0.00003
|
NM_001199397.3(NEK1):c.2886G>A (p.Gln962=)
|
rs770250819
|
0.00003
|
NM_001206927.2(DNAH8):c.106C>T (p.Pro36Ser)
|
rs1178576726
|
0.00003
|
NM_001206927.2(DNAH8):c.11285G>A (p.Gly3762Asp)
|
rs369468382
|
0.00003
|
NM_001206927.2(DNAH8):c.1196T>C (p.Met399Thr)
|
rs374073806
|
0.00003
|
NM_001206927.2(DNAH8):c.1301G>T (p.Arg434Leu)
|
rs754133293
|
0.00003
|
NM_001206927.2(DNAH8):c.13030C>T (p.Arg4344Cys)
|
rs761380037
|
0.00003
|
NM_001206927.2(DNAH8):c.14017C>T (p.Pro4673Ser)
|
rs144993102
|
0.00003
|
NM_001206927.2(DNAH8):c.2224T>C (p.Tyr742His)
|
rs766094006
|
0.00003
|
NM_001206927.2(DNAH8):c.2837C>A (p.Thr946Asn)
|
rs767272246
|
0.00003
|
NM_001206927.2(DNAH8):c.3804G>T (p.Glu1268Asp)
|
rs773699478
|
0.00003
|
NM_001206927.2(DNAH8):c.5038A>G (p.Ser1680Gly)
|
rs541531465
|
0.00003
|
NM_001206927.2(DNAH8):c.6931C>T (p.His2311Tyr)
|
rs370226425
|
0.00003
|
NM_001206927.2(DNAH8):c.7802C>T (p.Pro2601Leu)
|
rs149015796
|
0.00003
|
NM_001206927.2(DNAH8):c.7850C>T (p.Thr2617Ile)
|
rs778554035
|
0.00003
|
NM_001206927.2(DNAH8):c.8940G>A (p.Leu2980=)
|
rs373096913
|
0.00003
|
NM_001206927.2(DNAH8):c.9745C>T (p.Arg3249Cys)
|
rs557128576
|
0.00003
|
NM_001256715.2(DNAAF3):c.-72T>G
|
rs760790026
|
0.00003
|
NM_001256715.2(DNAAF3):c.-75G>C
|
rs537597795
|
0.00003
|
NM_001256715.2(DNAAF3):c.1075G>A (p.Val359Ile)
|
rs774136369
|
0.00003
|
NM_001256715.2(DNAAF3):c.1333G>C (p.Ala445Pro)
|
rs768592462
|
0.00003
|
NM_001256715.2(DNAAF3):c.271A>G (p.Met91Val)
|
rs1181045345
|
0.00003
|
NM_001256715.2(DNAAF3):c.929C>G (p.Thr310Ser)
|
rs781136508
|
0.00003
|
NM_001256715.2(DNAAF3):c.944C>T (p.Thr315Met)
|
rs758103289
|
0.00003
|
NM_001277115.2(DNAH11):c.12460C>T (p.Arg4154Cys)
|
rs755743542
|
0.00003
|
NM_001277115.2(DNAH11):c.13351_13353del (p.Lys4451del)
|
rs552487543
|
0.00003
|
NM_001277115.2(DNAH11):c.1814T>C (p.Val605Ala)
|
rs1474507652
|
0.00003
|
NM_001277115.2(DNAH11):c.496A>G (p.Ile166Val)
|
rs188162506
|
0.00003
|
NM_001277115.2(DNAH11):c.6087C>G (p.Ile2029Met)
|
rs1434998550
|
0.00003
|
NM_001277115.2(DNAH11):c.6984G>T (p.Pro2328=)
|
rs761918179
|
0.00003
|
NM_001277115.2(DNAH11):c.8258A>G (p.Lys2753Arg)
|
rs761852954
|
0.00003
|
NM_001278293.3(ARL6):c.529C>T (p.Leu177Phe)
|
rs750627875
|
0.00003
|
NM_001329943.3(KIAA0586):c.1160A>G (p.Asn387Ser)
|
rs1168640996
|
0.00003
|
NM_001329943.3(KIAA0586):c.1444T>C (p.Ser482Pro)
|
rs375472516
|
0.00003
|
NM_001329943.3(KIAA0586):c.1797A>T (p.Lys599Asn)
|
rs556030955
|
0.00003
|
NM_001329943.3(KIAA0586):c.2198T>C (p.Met733Thr)
|
rs752363556
|
0.00003
|
NM_001329943.3(KIAA0586):c.2354G>A (p.Arg785Gln)
|
rs372212501
|
0.00003
|
NM_001329943.3(KIAA0586):c.2623G>A (p.Asp875Asn)
|
rs770913768
|
0.00003
|
NM_001329943.3(KIAA0586):c.2965G>A (p.Ala989Thr)
|
rs767605168
|
0.00003
|
NM_001329943.3(KIAA0586):c.3526A>G (p.Ile1176Val)
|
rs777965178
|
0.00003
|
NM_001329943.3(KIAA0586):c.3908A>G (p.Lys1303Arg)
|
rs767855931
|
0.00003
|
NM_001329943.3(KIAA0586):c.4261A>G (p.Thr1421Ala)
|
rs962979142
|
0.00003
|
NM_001329943.3(KIAA0586):c.4573G>A (p.Glu1525Lys)
|
rs375085808
|
0.00003
|
NM_001329943.3(KIAA0586):c.518T>C (p.Ile173Thr)
|
rs773960033
|
0.00003
|
NM_001329943.3(KIAA0586):c.986C>T (p.Thr329Met)
|
rs747277541
|
0.00003
|
NM_001364171.2(ODAD1):c.1581+4A>G
|
rs759409470
|
0.00003
|
NM_001364171.2(ODAD1):c.1648G>T (p.Asp550Tyr)
|
rs776093467
|
0.00003
|
NM_001364171.2(ODAD1):c.254G>A (p.Arg85Gln)
|
rs1186646725
|
0.00003
|
NM_001364171.2(ODAD1):c.661G>A (p.Val221Ile)
|
rs769301117
|
0.00003
|
NM_001364171.2(ODAD1):c.812G>A (p.Arg271Gln)
|
rs776898770
|
0.00003
|
NM_001369.3(DNAH5):c.10282G>A (p.Ala3428Thr)
|
rs760220268
|
0.00003
|
NM_001369.3(DNAH5):c.11228G>T (p.Arg3743Ile)
|
rs774599183
|
0.00003
|
NM_001369.3(DNAH5):c.12374C>T (p.Ala4125Val)
|
rs370757783
|
0.00003
|
NM_001369.3(DNAH5):c.13123G>A (p.Glu4375Lys)
|
rs955768429
|
0.00003
|
NM_001369.3(DNAH5):c.13745A>G (p.Tyr4582Cys)
|
rs749862482
|
0.00003
|
NM_001369.3(DNAH5):c.13843C>T (p.Arg4615Cys)
|
rs771613197
|
0.00003
|
NM_001369.3(DNAH5):c.4072G>A (p.Gly1358Ser)
|
rs752638332
|
0.00003
|
NM_001369.3(DNAH5):c.4355+5G>A
|
rs774366812
|
0.00003
|
NM_001369.3(DNAH5):c.4384G>T (p.Asp1462Tyr)
|
rs1189846120
|
0.00003
|
NM_001369.3(DNAH5):c.7987A>G (p.Ile2663Val)
|
rs113576049
|
0.00003
|
NM_001369.3(DNAH5):c.8006A>T (p.Asp2669Val)
|
rs770090882
|
0.00003
|
NM_001369.3(DNAH5):c.8647+5A>C
|
rs748450478
|
0.00003
|
NM_001369.3(DNAH5):c.9128A>T (p.Asp3043Val)
|
rs759475605
|
0.00003
|
NM_001375405.1(CEP120):c.1274C>G (p.Ala425Gly)
|
rs1196167686
|
0.00003
|
NM_001375405.1(CEP120):c.1493G>A (p.Arg498Gln)
|
rs764318008
|
0.00003
|
NM_001375405.1(CEP120):c.2358+3T>G
|
rs373782883
|
0.00003
|
NM_001375405.1(CEP120):c.2686G>A (p.Glu896Lys)
|
rs780184609
|
0.00003
|
NM_001375405.1(CEP120):c.2690G>A (p.Arg897Gln)
|
rs531728977
|
0.00003
|
NM_001375405.1(CEP120):c.304G>A (p.Ala102Thr)
|
rs370142490
|
0.00003
|
NM_001377.3(DYNC2H1):c.10433C>A (p.Ser3478Tyr)
|
rs372499560
|
0.00003
|
NM_001377.3(DYNC2H1):c.11013A>C (p.Leu3671Phe)
|
rs768893643
|
0.00003
|
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg)
|
rs758727391
|
0.00003
|
NM_001377.3(DYNC2H1):c.11525G>A (p.Arg3842His)
|
rs759231451
|
0.00003
|
NM_001377.3(DYNC2H1):c.11649+4A>T
|
rs372714647
|
0.00003
|
NM_001377.3(DYNC2H1):c.11726-7A>G
|
rs746481743
|
0.00003
|
NM_001377.3(DYNC2H1):c.11858T>C (p.Ile3953Thr)
|
rs769616176
|
0.00003
|
NM_001377.3(DYNC2H1):c.12022C>T (p.Arg4008Cys)
|
rs765336353
|
0.00003
|
NM_001377.3(DYNC2H1):c.12890A>G (p.Gln4297Arg)
|
rs558920296
|
0.00003
|
NM_001377.3(DYNC2H1):c.2399A>G (p.Tyr800Cys)
|
rs776822327
|
0.00003
|
NM_001377.3(DYNC2H1):c.2639A>G (p.His880Arg)
|
rs373531037
|
0.00003
|
NM_001377.3(DYNC2H1):c.2828A>G (p.His943Arg)
|
rs747923490
|
0.00003
|
NM_001377.3(DYNC2H1):c.2993G>A (p.Arg998Gln)
|
rs372269011
|
0.00003
|
NM_001377.3(DYNC2H1):c.3361T>G (p.Ser1121Ala)
|
rs772782945
|
0.00003
|
NM_001377.3(DYNC2H1):c.3746A>T (p.Asp1249Val)
|
rs371037205
|
0.00003
|
NM_001377.3(DYNC2H1):c.3959G>A (p.Gly1320Glu)
|
rs890283765
|
0.00003
|
NM_001377.3(DYNC2H1):c.4962A>T (p.Glu1654Asp)
|
rs751762562
|
0.00003
|
NM_001377.3(DYNC2H1):c.5152-3A>C
|
rs372549709
|
0.00003
|
NM_001377.3(DYNC2H1):c.6322T>A (p.Ser2108Thr)
|
rs750436227
|
0.00003
|
NM_001377.3(DYNC2H1):c.7030C>T (p.Arg2344Cys)
|
rs547419104
|
0.00003
|
NM_001377.3(DYNC2H1):c.7385C>T (p.Ser2462Phe)
|
rs770346645
|
0.00003
|
NM_001377.3(DYNC2H1):c.7735C>T (p.Arg2579Trp)
|
rs775362763
|
0.00003
|
NM_001377.3(DYNC2H1):c.8021C>T (p.Ala2674Val)
|
rs779700118
|
0.00003
|
NM_001377.3(DYNC2H1):c.8473A>G (p.Ser2825Gly)
|
rs886047569
|
0.00003
|
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly)
|
rs377418428
|
0.00003
|
NM_001378454.1(ALMS1):c.11332A>G (p.Arg3778Gly)
|
rs773130069
|
0.00003
|
NM_001378454.1(ALMS1):c.11365C>T (p.Arg3789Trp)
|
rs752623561
|
0.00003
|
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His)
|
rs45576434
|
0.00003
|
NM_001378454.1(ALMS1):c.11854A>G (p.Lys3952Glu)
|
rs771282076
|
0.00003
|
NM_001378454.1(ALMS1):c.11959T>C (p.Trp3987Arg)
|
rs375540445
|
0.00003
|
NM_001378454.1(ALMS1):c.11994G>C (p.Arg3998Ser)
|
rs28730862
|
0.00003
|
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly)
|
rs754439156
|
0.00003
|
NM_001378454.1(ALMS1):c.12136C>T (p.Pro4046Ser)
|
rs371269253
|
0.00003
|
NM_001378454.1(ALMS1):c.12152G>A (p.Arg4051His)
|
rs750598025
|
0.00003
|
NM_001378454.1(ALMS1):c.12257G>A (p.Arg4086Gln)
|
rs917280846
|
0.00003
|
NM_001378454.1(ALMS1):c.12275G>A (p.Arg4092His)
|
rs748624161
|
0.00003
|
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg)
|
rs200038446
|
0.00003
|
NM_001378454.1(ALMS1):c.1432+4C>T
|
rs200933935
|
0.00003
|
NM_001378454.1(ALMS1):c.1607C>G (p.Thr536Ser)
|
rs766105909
|
0.00003
|
NM_001378454.1(ALMS1):c.169G>A (p.Asp57Asn)
|
rs773881728
|
0.00003
|
NM_001378454.1(ALMS1):c.1772A>T (p.Asp591Val)
|
rs541118531
|
0.00003
|
NM_001378454.1(ALMS1):c.1856C>T (p.Ser619Phe)
|
rs377341653
|
0.00003
|
NM_001378454.1(ALMS1):c.2107G>C (p.Asp703His)
|
rs756176783
|
0.00003
|
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala)
|
rs367641723
|
0.00003
|
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val)
|
rs371524359
|
0.00003
|
NM_001378454.1(ALMS1):c.245C>T (p.Ala82Val)
|
rs747750620
|
0.00003
|
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg)
|
rs370830603
|
0.00003
|
NM_001378454.1(ALMS1):c.2494G>A (p.Glu832Lys)
|
rs373979607
|
0.00003
|
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr)
|
rs1356972872
|
0.00003
|
NM_001378454.1(ALMS1):c.2714C>G (p.Ser905Cys)
|
rs748479099
|
0.00003
|
NM_001378454.1(ALMS1):c.3076G>C (p.Ala1026Pro)
|
rs201451396
|
0.00003
|
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala)
|
rs201884768
|
0.00003
|
NM_001378454.1(ALMS1):c.3959C>G (p.Ala1320Gly)
|
rs1399638135
|
0.00003
|
NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser)
|
rs746145270
|
0.00003
|
NM_001378454.1(ALMS1):c.4435G>A (p.Gly1479Arg)
|
rs750765175
|
0.00003
|
NM_001378454.1(ALMS1):c.4447A>G (p.Ile1483Val)
|
rs749573527
|
0.00003
|
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val)
|
rs377671796
|
0.00003
|
NM_001378454.1(ALMS1):c.4883A>G (p.Tyr1628Cys)
|
rs375939859
|
0.00003
|
NM_001378454.1(ALMS1):c.4907C>T (p.Pro1636Leu)
|
rs775768298
|
0.00003
|
NM_001378454.1(ALMS1):c.5155A>G (p.Ile1719Val)
|
rs1438158545
|
0.00003
|
NM_001378454.1(ALMS1):c.5174C>A (p.Ala1725Asp)
|
rs764135516
|
0.00003
|
NM_001378454.1(ALMS1):c.5597C>T (p.Pro1866Leu)
|
rs1323058030
|
0.00003
|
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His)
|
rs779739318
|
0.00003
|
NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met)
|
rs562345472
|
0.00003
|
NM_001378454.1(ALMS1):c.5909T>C (p.Val1970Ala)
|
rs765405386
|
0.00003
|
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser)
|
rs771800459
|
0.00003
|
NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met)
|
rs774831792
|
0.00003
|
NM_001378454.1(ALMS1):c.6658A>G (p.Asn2220Asp)
|
rs1303642220
|
0.00003
|
NM_001378454.1(ALMS1):c.6707C>T (p.Pro2236Leu)
|
rs201737248
|
0.00003
|
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp)
|
rs766346478
|
0.00003
|
NM_001378454.1(ALMS1):c.6976A>G (p.Ser2326Gly)
|
rs560736902
|
0.00003
|
NM_001378454.1(ALMS1):c.7013C>T (p.Thr2338Ile)
|
rs373004988
|
0.00003
|
NM_001378454.1(ALMS1):c.7040G>T (p.Gly2347Val)
|
rs752336806
|
0.00003
|
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu)
|
rs373985919
|
0.00003
|
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly)
|
rs1007457582
|
0.00003
|
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val)
|
rs1027248513
|
0.00003
|
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp)
|
rs1213279792
|
0.00003
|
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu)
|
rs201025991
|
0.00003
|
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu)
|
rs371904071
|
0.00003
|
NM_001378454.1(ALMS1):c.8203G>A (p.Gly2735Ser)
|
rs761136859
|
0.00003
|
NM_001378454.1(ALMS1):c.820A>C (p.Ser274Arg)
|
rs761800808
|
0.00003
|
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn)
|
rs200718841
|
0.00003
|
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr)
|
rs369720907
|
0.00003
|
NM_001378454.1(ALMS1):c.8890A>G (p.Ile2964Val)
|
rs529506570
|
0.00003
|
NM_001378454.1(ALMS1):c.8920C>T (p.Pro2974Ser)
|
rs1043429291
|
0.00003
|
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser)
|
rs553507775
|
0.00003
|
NM_001378454.1(ALMS1):c.9565C>T (p.Leu3189Phe)
|
rs376367125
|
0.00003
|
NM_001378615.1(CC2D2A):c.1093C>G (p.Pro365Ala)
|
rs375385399
|
0.00003
|
NM_001378615.1(CC2D2A):c.10A>G (p.Arg4Gly)
|
rs758963962
|
0.00003
|
NM_001378615.1(CC2D2A):c.1153G>A (p.Val385Ile)
|
rs1401215213
|
0.00003
|
NM_001378615.1(CC2D2A):c.1426A>G (p.Thr476Ala)
|
rs777726035
|
0.00003
|
NM_001378615.1(CC2D2A):c.1451A>G (p.Tyr484Cys)
|
rs746279803
|
0.00003
|
NM_001378615.1(CC2D2A):c.2141A>G (p.Asn714Ser)
|
rs771224275
|
0.00003
|
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys)
|
rs751808973
|
0.00003
|
NM_001378615.1(CC2D2A):c.248G>A (p.Ser83Asn)
|
rs930307925
|
0.00003
|
NM_001378615.1(CC2D2A):c.2519T>C (p.Ile840Thr)
|
rs373111926
|
0.00003
|
NM_001378615.1(CC2D2A):c.2885A>G (p.Asp962Gly)
|
rs201631131
|
0.00003
|
NM_001378615.1(CC2D2A):c.3008A>G (p.Asn1003Ser)
|
rs376663620
|
0.00003
|
NM_001378615.1(CC2D2A):c.3154G>A (p.Asp1052Asn)
|
rs1055487228
|
0.00003
|
NM_001378615.1(CC2D2A):c.3631C>G (p.Leu1211Val)
|
rs753905430
|
0.00003
|
NM_001378615.1(CC2D2A):c.3883G>A (p.Gly1295Arg)
|
rs763466980
|
0.00003
|
NM_001378615.1(CC2D2A):c.389G>A (p.Arg130His)
|
rs778519147
|
0.00003
|
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg)
|
rs587779732
|
0.00003
|
NM_001378615.1(CC2D2A):c.4738A>G (p.Ser1580Gly)
|
rs377460557
|
0.00003
|
NM_001378615.1(CC2D2A):c.4762G>A (p.Val1588Ile)
|
rs1323627048
|
0.00003
|
NM_001378615.1(CC2D2A):c.970C>T (p.Arg324Cys)
|
rs376969878
|
0.00003
|
NM_001382391.1(CSPP1):c.1217C>T (p.Ala406Val)
|
rs775268714
|
0.00003
|
NM_001382391.1(CSPP1):c.1453C>T (p.Arg485Cys)
|
rs759265787
|
0.00003
|
NM_001382391.1(CSPP1):c.1703C>T (p.Thr568Met)
|
rs375847469
|
0.00003
|
NM_001382391.1(CSPP1):c.1975+4C>T
|
rs779380282
|
0.00003
|
NM_001382391.1(CSPP1):c.2276G>A (p.Arg759Gln)
|
rs763911288
|
0.00003
|
NM_001382391.1(CSPP1):c.2336G>A (p.Arg779Gln)
|
rs780070875
|
0.00003
|
NM_001382391.1(CSPP1):c.289C>T (p.Arg97Cys)
|
rs374169543
|
0.00003
|
NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr)
|
rs767140972
|
0.00003
|
NM_001382391.1(CSPP1):c.3245C>T (p.Ala1082Val)
|
rs199738369
|
0.00003
|
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly)
|
rs201629827
|
0.00003
|
NM_001382391.1(CSPP1):c.3364C>T (p.Leu1122Phe)
|
rs1421998303
|
0.00003
|
NM_001382391.1(CSPP1):c.3559C>T (p.Arg1187Cys)
|
rs781579090
|
0.00003
|
NM_001382391.1(CSPP1):c.52G>A (p.Glu18Lys)
|
rs770271054
|
0.00003
|
NM_001382391.1(CSPP1):c.88A>G (p.Met30Val)
|
rs199831541
|
0.00003
|
NM_001382391.1(CSPP1):c.935A>G (p.Asn312Ser)
|
rs769726340
|
0.00003
|
NM_001481.3(GAS8):c.1159G>A (p.Glu387Lys)
|
rs749269668
|
0.00003
|
NM_001481.3(GAS8):c.1433C>T (p.Thr478Met)
|
rs1187785972
|
0.00003
|
NM_001481.3(GAS8):c.832C>T (p.Arg278Cys)
|
rs201993896
|
0.00003
|
NM_003114.5(SPAG1):c.133G>A (p.Val45Met)
|
rs764448315
|
0.00003
|
NM_003114.5(SPAG1):c.141A>T (p.Arg47Ser)
|
rs529265811
|
0.00003
|
NM_003114.5(SPAG1):c.2399T>C (p.Ile800Thr)
|
rs199998543
|
0.00003
|
NM_003114.5(SPAG1):c.2533C>G (p.Leu845Val)
|
rs778546131
|
0.00003
|
NM_003114.5(SPAG1):c.395G>A (p.Arg132His)
|
rs545486340
|
0.00003
|
NM_003611.3(OFD1):c.2030A>T (p.Glu677Val)
|
rs370183911
|
0.00003
|
NM_003611.3(OFD1):c.2177G>A (p.Arg726His)
|
rs750984782
|
0.00003
|
NM_006642.5(SDCCAG8):c.1373G>A (p.Arg458His)
|
rs748784645
|
0.00003
|
NM_006642.5(SDCCAG8):c.1892C>T (p.Thr631Ile)
|
rs565662622
|
0.00003
|
NM_006642.5(SDCCAG8):c.1945T>C (p.Cys649Arg)
|
rs371805116
|
0.00003
|
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro)
|
rs541533278
|
0.00003
|
NM_006642.5(SDCCAG8):c.66G>T (p.Arg22=)
|
rs764668676
|
0.00003
|
NM_006642.5(SDCCAG8):c.842G>A (p.Gly281Asp)
|
rs765751496
|
0.00003
|
NM_006642.5(SDCCAG8):c.866A>G (p.His289Arg)
|
rs147807589
|
0.00003
|
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro)
|
rs201677978
|
0.00003
|
NM_012144.4(DNAI1):c.1156G>A (p.Val386Ile)
|
rs565923150
|
0.00003
|
NM_012144.4(DNAI1):c.476G>A (p.Ser159Asn)
|
rs149230619
|
0.00003
|
NM_012210.4(TRIM32):c.1046C>G (p.Ala349Gly)
|
rs774316527
|
0.00003
|
NM_012210.4(TRIM32):c.1168C>T (p.Arg390Cys)
|
rs754554333
|
0.00003
|
NM_012210.4(TRIM32):c.1226G>A (p.Arg409His)
|
rs145828717
|
0.00003
|
NM_012210.4(TRIM32):c.133C>T (p.Arg45Cys)
|
rs753738560
|
0.00003
|
NM_012210.4(TRIM32):c.1400G>C (p.Ser467Thr)
|
rs151116227
|
0.00003
|
NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu)
|
rs752860146
|
0.00003
|
NM_012210.4(TRIM32):c.1780A>G (p.Ser594Gly)
|
rs757524831
|
0.00003
|
NM_012210.4(TRIM32):c.1930A>G (p.Ser644Gly)
|
rs1462453134
|
0.00003
|
NM_012210.4(TRIM32):c.206G>A (p.Arg69His)
|
rs11556350
|
0.00003
|
NM_012210.4(TRIM32):c.24C>A (p.His8Gln)
|
rs774511117
|
0.00003
|
NM_012210.4(TRIM32):c.337C>T (p.Arg113Trp)
|
rs762785784
|
0.00003
|
NM_012210.4(TRIM32):c.434G>A (p.Arg145Gln)
|
rs753519978
|
0.00003
|
NM_012210.4(TRIM32):c.488T>C (p.Leu163Pro)
|
rs775940650
|
0.00003
|
NM_012210.4(TRIM32):c.812G>A (p.Arg271Gln)
|
rs773872830
|
0.00003
|
NM_012472.6(DNAAF11):c.1081G>A (p.Asp361Asn)
|
rs1365254688
|
0.00003
|
NM_012472.6(DNAAF11):c.118G>A (p.Asp40Asn)
|
rs760744496
|
0.00003
|
NM_014704.4(CEP104):c.1631T>A (p.Leu544His)
|
rs772547053
|
0.00003
|
NM_014704.4(CEP104):c.560A>G (p.Tyr187Cys)
|
rs749228961
|
0.00003
|
NM_014704.4(CEP104):c.781G>A (p.Val261Met)
|
rs768279838
|
0.00003
|
NM_014714.4(IFT140):c.1145C>T (p.Thr382Met)
|
rs780000949
|
0.00003
|
NM_014714.4(IFT140):c.1330A>G (p.Met444Val)
|
rs749322722
|
0.00003
|
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met)
|
rs764537319
|
0.00003
|
NM_014714.4(IFT140):c.2035G>A (p.Gly679Arg)
|
rs769632242
|
0.00003
|
NM_014714.4(IFT140):c.2138G>A (p.Arg713Gln)
|
rs200440483
|
0.00003
|
NM_014714.4(IFT140):c.2425C>T (p.Arg809Cys)
|
rs755748472
|
0.00003
|
NM_014714.4(IFT140):c.2510G>A (p.Arg837His)
|
rs374429002
|
0.00003
|
NM_014714.4(IFT140):c.2584G>A (p.Ala862Thr)
|
rs751629348
|
0.00003
|
NM_014714.4(IFT140):c.2743G>A (p.Ala915Thr)
|
rs529397200
|
0.00003
|
NM_014714.4(IFT140):c.3103C>T (p.Arg1035Trp)
|
rs141818893
|
0.00003
|
NM_014714.4(IFT140):c.3302C>T (p.Ala1101Val)
|
rs773291603
|
0.00003
|
NM_014714.4(IFT140):c.3350T>C (p.Leu1117Pro)
|
rs749518919
|
0.00003
|
NM_014714.4(IFT140):c.3560C>T (p.Ser1187Leu)
|
rs952706482
|
0.00003
|
NM_014714.4(IFT140):c.3719T>C (p.Val1240Ala)
|
rs149521576
|
0.00003
|
NM_014714.4(IFT140):c.3841C>G (p.Leu1281Val)
|
rs1205008767
|
0.00003
|
NM_014714.4(IFT140):c.4041-5G>A
|
rs754813435
|
0.00003
|
NM_014714.4(IFT140):c.4136A>G (p.Tyr1379Cys)
|
rs117433764
|
0.00003
|
NM_014714.4(IFT140):c.4162C>T (p.Arg1388Trp)
|
rs760253028
|
0.00003
|
NM_014714.4(IFT140):c.4385C>T (p.Pro1462Leu)
|
rs1198844614
|
0.00003
|
NM_014714.4(IFT140):c.508G>A (p.Ala170Thr)
|
rs145551546
|
0.00003
|
NM_014714.4(IFT140):c.601G>A (p.Glu201Lys)
|
rs367721062
|
0.00003
|
NM_014714.4(IFT140):c.886G>A (p.Gly296Arg)
|
rs574450870
|
0.00003
|
NM_014956.5(CEP164):c.100C>T (p.Arg34Trp)
|
rs775902514
|
0.00003
|
NM_014956.5(CEP164):c.1203A>G (p.Ile401Met)
|
rs202080477
|
0.00003
|
NM_014956.5(CEP164):c.1246C>T (p.Arg416Cys)
|
rs766713516
|
0.00003
|
NM_014956.5(CEP164):c.1598C>T (p.Pro533Leu)
|
rs761621131
|
0.00003
|
NM_014956.5(CEP164):c.2326C>T (p.Arg776Trp)
|
rs377437628
|
0.00003
|
NM_014956.5(CEP164):c.2630G>A (p.Arg877Gln)
|
rs756048473
|
0.00003
|
NM_014956.5(CEP164):c.2656G>A (p.Gly886Arg)
|
rs377597884
|
0.00003
|
NM_014956.5(CEP164):c.2746C>T (p.Arg916Trp)
|
rs1055666351
|
0.00003
|
NM_014956.5(CEP164):c.3020G>A (p.Arg1007His)
|
rs372292887
|
0.00003
|
NM_014956.5(CEP164):c.3278+5_3278+8del
|
rs929035130
|
0.00003
|
NM_014956.5(CEP164):c.3371T>C (p.Met1124Thr)
|
rs527615343
|
0.00003
|
NM_014956.5(CEP164):c.337A>G (p.Lys113Glu)
|
rs75301270
|
0.00003
|
NM_014956.5(CEP164):c.4123C>G (p.Pro1375Ala)
|
rs757246851
|
0.00003
|
NM_014956.5(CEP164):c.625C>G (p.Leu209Val)
|
rs921440647
|
0.00003
|
NM_014956.5(CEP164):c.703A>G (p.Ser235Gly)
|
rs777527578
|
0.00003
|
NM_014956.5(CEP164):c.765+3A>T
|
rs1256710112
|
0.00003
|
NM_014956.5(CEP164):c.832C>T (p.Pro278Ser)
|
rs767609128
|
0.00003
|
NM_014956.5(CEP164):c.833C>G (p.Pro278Arg)
|
rs376214075
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1154T>G (p.Leu385Arg)
|
rs750446830
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1393C>T (p.Leu465Phe)
|
rs758403877
|
0.00003
|
NM_015272.5(RPGRIP1L):c.140G>A (p.Arg47His)
|
rs773558676
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1480T>G (p.Ser494Ala)
|
rs202201818
|
0.00003
|
NM_015272.5(RPGRIP1L):c.167G>A (p.Arg56His)
|
rs374157187
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1721A>G (p.Tyr574Cys)
|
rs766404857
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1816C>G (p.Leu606Val)
|
rs552056656
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile)
|
rs145572901
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2104G>A (p.Glu702Lys)
|
rs199975230
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2161G>A (p.Gly721Arg)
|
rs780023355
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2425C>G (p.Leu809Val)
|
rs370180090
|
0.00003
|
NM_015272.5(RPGRIP1L):c.250C>T (p.Arg84Trp)
|
rs770098954
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2542A>G (p.Met848Val)
|
rs767112083
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2806A>G (p.Ile936Val)
|
rs763369161
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3013A>G (p.Ile1005Val)
|
rs780310164
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3202G>A (p.Glu1068Lys)
|
rs771457754
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3203A>G (p.Glu1068Gly)
|
rs372404481
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)
|
rs973841786
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3355C>T (p.Arg1119Cys)
|
rs1030543863
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu)
|
rs886052093
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met)
|
rs142387463
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met)
|
rs536037779
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser)
|
rs377402117
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3920A>G (p.Lys1307Arg)
|
rs139246920
|
0.00003
|
NM_015272.5(RPGRIP1L):c.663G>T (p.Gln221His)
|
rs776104875
|
0.00003
|
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile)
|
rs151174849
|
0.00003
|
NM_015272.5(RPGRIP1L):c.854T>C (p.Met285Thr)
|
rs772520453
|
0.00003
|
NM_015512.5(DNAH1):c.10001C>T (p.Thr3334Met)
|
rs370469158
|
0.00003
|
NM_015512.5(DNAH1):c.10474+11C>T
|
rs750347751
|
0.00003
|
NM_015512.5(DNAH1):c.10562A>G (p.His3521Arg)
|
rs370864402
|
0.00003
|
NM_015512.5(DNAH1):c.1120C>T (p.Arg374Cys)
|
rs188467919
|
0.00003
|
NM_015512.5(DNAH1):c.1138G>A (p.Ala380Thr)
|
rs564408891
|
0.00003
|
NM_015512.5(DNAH1):c.11890G>A (p.Ala3964Thr)
|
rs373632520
|
0.00003
|
NM_015512.5(DNAH1):c.1268G>A (p.Arg423Gln)
|
rs761468870
|
0.00003
|
NM_015512.5(DNAH1):c.1835G>A (p.Arg612His)
|
rs371402883
|
0.00003
|
NM_015512.5(DNAH1):c.1967A>G (p.Asn656Ser)
|
rs1401244666
|
0.00003
|
NM_015512.5(DNAH1):c.2083C>A (p.His695Asn)
|
rs751919243
|
0.00003
|
NM_015512.5(DNAH1):c.2276A>G (p.Asn759Ser)
|
rs918481447
|
0.00003
|
NM_015512.5(DNAH1):c.233G>A (p.Arg78Gln)
|
rs750191626
|
0.00003
|
NM_015512.5(DNAH1):c.2408T>C (p.Ile803Thr)
|
rs201989206
|
0.00003
|
NM_015512.5(DNAH1):c.2431G>A (p.Asp811Asn)
|
rs772838797
|
0.00003
|
NM_015512.5(DNAH1):c.2683A>G (p.Met895Val)
|
rs763268455
|
0.00003
|
NM_015512.5(DNAH1):c.2730-6G>A
|
rs779985508
|
0.00003
|
NM_015512.5(DNAH1):c.2815C>T (p.Arg939Cys)
|
rs372568029
|
0.00003
|
NM_015512.5(DNAH1):c.2950A>G (p.Lys984Glu)
|
rs199732339
|
0.00003
|
NM_015512.5(DNAH1):c.2998G>A (p.Glu1000Lys)
|
rs541642930
|
0.00003
|
NM_015512.5(DNAH1):c.3139G>A (p.Ala1047Thr)
|
rs1296069584
|
0.00003
|
NM_015512.5(DNAH1):c.353G>A (p.Arg118Gln)
|
rs370930322
|
0.00003
|
NM_015512.5(DNAH1):c.3814C>T (p.Arg1272Trp)
|
rs778942324
|
0.00003
|
NM_015512.5(DNAH1):c.4453C>G (p.Gln1485Glu)
|
rs200763734
|
0.00003
|
NM_015512.5(DNAH1):c.475C>T (p.Arg159Trp)
|
rs561508479
|
0.00003
|
NM_015512.5(DNAH1):c.485C>T (p.Ala162Val)
|
rs993782683
|
0.00003
|
NM_015512.5(DNAH1):c.5301C>G (p.Asn1767Lys)
|
rs762663322
|
0.00003
|
NM_015512.5(DNAH1):c.5348G>A (p.Arg1783Gln)
|
rs371787188
|
0.00003
|
NM_015512.5(DNAH1):c.5837T>C (p.Met1946Thr)
|
rs777353614
|
0.00003
|
NM_015512.5(DNAH1):c.666C>A (p.His222Gln)
|
rs767198288
|
0.00003
|
NM_015512.5(DNAH1):c.6829C>T (p.Arg2277Trp)
|
rs749114791
|
0.00003
|
NM_015512.5(DNAH1):c.6913G>A (p.Gly2305Ser)
|
rs779863598
|
0.00003
|
NM_015512.5(DNAH1):c.7351C>T (p.Leu2451Phe)
|
rs780039638
|
0.00003
|
NM_015512.5(DNAH1):c.7436G>A (p.Arg2479Gln)
|
rs763423150
|
0.00003
|
NM_015512.5(DNAH1):c.7483C>T (p.Arg2495Cys)
|
rs545683519
|
0.00003
|
NM_015512.5(DNAH1):c.7718G>A (p.Arg2573His)
|
rs576324030
|
0.00003
|
NM_015512.5(DNAH1):c.77T>C (p.Val26Ala)
|
rs772550201
|
0.00003
|
NM_015512.5(DNAH1):c.7886T>C (p.Leu2629Pro)
|
rs759593608
|
0.00003
|
NM_015512.5(DNAH1):c.7978G>A (p.Val2660Ile)
|
rs768620121
|
0.00003
|
NM_015512.5(DNAH1):c.8681A>G (p.Lys2894Arg)
|
rs192608206
|
0.00003
|
NM_015512.5(DNAH1):c.8800G>A (p.Asp2934Asn)
|
rs775233870
|
0.00003
|
NM_015512.5(DNAH1):c.8816G>A (p.Arg2939His)
|
rs749580264
|
0.00003
|
NM_015512.5(DNAH1):c.8838G>A (p.Pro2946=)
|
rs547630757
|
0.00003
|
NM_015512.5(DNAH1):c.970G>A (p.Glu324Lys)
|
rs758909731
|
0.00003
|
NM_015631.6(TCTN3):c.1268G>A (p.Gly423Glu)
|
rs535199429
|
0.00003
|
NM_015631.6(TCTN3):c.178G>A (p.Val60Met)
|
rs557962090
|
0.00003
|
NM_015662.3(IFT172):c.1056C>G (p.His352Gln)
|
rs145847794
|
0.00003
|
NM_015662.3(IFT172):c.1354G>A (p.Gly452Arg)
|
rs866980509
|
0.00003
|
NM_015662.3(IFT172):c.1432A>G (p.Asn478Asp)
|
rs374979653
|
0.00003
|
NM_015662.3(IFT172):c.1585A>G (p.Met529Val)
|
rs745382278
|
0.00003
|
NM_015662.3(IFT172):c.2681G>A (p.Arg894His)
|
rs561927411
|
0.00003
|
NM_015662.3(IFT172):c.2744A>G (p.Tyr915Cys)
|
rs749474609
|
0.00003
|
NM_015662.3(IFT172):c.2819G>A (p.Arg940Gln)
|
rs761248577
|
0.00003
|
NM_015662.3(IFT172):c.2873A>C (p.His958Pro)
|
rs748358110
|
0.00003
|
NM_015662.3(IFT172):c.3030C>A (p.His1010Gln)
|
rs201607202
|
0.00003
|
NM_015662.3(IFT172):c.3160G>A (p.Glu1054Lys)
|
rs763117647
|
0.00003
|
NM_015662.3(IFT172):c.335C>T (p.Thr112Met)
|
rs191146686
|
0.00003
|
NM_015662.3(IFT172):c.336G>A (p.Thr112=)
|
rs1158316267
|
0.00003
|
NM_015662.3(IFT172):c.3601G>A (p.Glu1201Lys)
|
rs747872724
|
0.00003
|
NM_015662.3(IFT172):c.4130C>T (p.Ala1377Val)
|
rs376824384
|
0.00003
|
NM_015662.3(IFT172):c.4370G>A (p.Gly1457Asp)
|
rs142312837
|
0.00003
|
NM_015662.3(IFT172):c.4598C>T (p.Thr1533Met)
|
rs202181028
|
0.00003
|
NM_015662.3(IFT172):c.4914G>A (p.Pro1638=)
|
rs374531022
|
0.00003
|
NM_015662.3(IFT172):c.5005G>A (p.Ala1669Thr)
|
rs146575848
|
0.00003
|
NM_015662.3(IFT172):c.5045G>A (p.Arg1682Gln)
|
rs773691500
|
0.00003
|
NM_015662.3(IFT172):c.602A>G (p.Tyr201Cys)
|
rs768237211
|
0.00003
|
NM_015662.3(IFT172):c.631G>A (p.Val211Met)
|
rs757478657
|
0.00003
|
NM_015662.3(IFT172):c.707G>A (p.Arg236His)
|
rs768290728
|
0.00003
|
NM_015662.3(IFT172):c.953G>A (p.Arg318Gln)
|
rs779572697
|
0.00003
|
NM_015662.3(IFT172):c.986C>T (p.Thr329Met)
|
rs568736482
|
0.00003
|
NM_015681.6(B9D1):c.109G>A (p.Gly37Ser)
|
rs771997194
|
0.00003
|
NM_015681.6(B9D1):c.421C>T (p.Arg141Trp)
|
rs752121172
|
0.00003
|
NM_015681.6(B9D1):c.603C>A (p.Ser201Arg)
|
rs547869203
|
0.00003
|
NM_015896.4(ZMYND10):c.1177C>T (p.Arg393Cys)
|
rs587740488
|
0.00003
|
NM_015896.4(ZMYND10):c.832C>T (p.Arg278Cys)
|
rs372975420
|
0.00003
|
NM_015896.4(ZMYND10):c.878G>A (p.Arg293Gln)
|
rs763288032
|
0.00003
|
NM_015910.7(WDPCP):c.158C>T (p.Ala53Val)
|
rs149347732
|
0.00003
|
NM_015910.7(WDPCP):c.1799G>A (p.Arg600His)
|
rs375036014
|
0.00003
|
NM_015910.7(WDPCP):c.25G>C (p.Ala9Pro)
|
rs780151486
|
0.00003
|
NM_015910.7(WDPCP):c.272C>T (p.Thr91Met)
|
rs753130718
|
0.00003
|
NM_015910.7(WDPCP):c.286C>T (p.Arg96Cys)
|
rs375338402
|
0.00003
|
NM_015910.7(WDPCP):c.410T>C (p.Val137Ala)
|
rs780789710
|
0.00003
|
NM_015910.7(WDPCP):c.691A>G (p.Ile231Val)
|
rs769180655
|
0.00003
|
NM_015910.7(WDPCP):c.806A>G (p.Tyr269Cys)
|
rs749575727
|
0.00003
|
NM_015910.7(WDPCP):c.841C>T (p.Arg281Cys)
|
rs747564290
|
0.00003
|
NM_016464.5(TMEM138):c.187A>G (p.Thr63Ala)
|
rs755251825
|
0.00003
|
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu)
|
rs774141923
|
0.00003
|
NM_016464.5(TMEM138):c.406C>T (p.Arg136Trp)
|
rs750788154
|
0.00003
|
NM_016616.5(NME8):c.23T>A (p.Val8Asp)
|
rs1170478165
|
0.00003
|
NM_016616.5(NME8):c.271-11T>A
|
rs760643364
|
0.00003
|
NM_016616.5(NME8):c.311C>T (p.Pro104Leu)
|
rs567620217
|
0.00003
|
NM_016616.5(NME8):c.742C>A (p.Pro248Thr)
|
rs201277639
|
0.00003
|
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu)
|
rs763534380
|
0.00003
|
NM_017777.4(MKS1):c.1387C>T (p.Arg463Trp)
|
rs766392300
|
0.00003
|
NM_017777.4(MKS1):c.1528C>T (p.Arg510Trp)
|
rs757310695
|
0.00003
|
NM_017777.4(MKS1):c.1534G>A (p.Val512Met)
|
rs370130538
|
0.00003
|
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys)
|
rs775558298
|
0.00003
|
NM_017777.4(MKS1):c.314A>C (p.Tyr105Ser)
|
rs1440792737
|
0.00003
|
NM_017777.4(MKS1):c.835C>T (p.Arg279Trp)
|
rs189255737
|
0.00003
|
NM_017777.4(MKS1):c.904G>A (p.Asp302Asn)
|
rs750025608
|
0.00003
|
NM_017802.4(DNAAF5):c.1027C>T (p.Arg343Cys)
|
rs773921234
|
0.00003
|
NM_017802.4(DNAAF5):c.1207C>T (p.Arg403Trp)
|
rs372413434
|
0.00003
|
NM_017802.4(DNAAF5):c.1582G>T (p.Ala528Ser)
|
rs747552520
|
0.00003
|
NM_017802.4(DNAAF5):c.1714G>A (p.Ala572Thr)
|
rs534027051
|
0.00003
|
NM_017802.4(DNAAF5):c.1856C>T (p.Pro619Leu)
|
rs755871359
|
0.00003
|
NM_017802.4(DNAAF5):c.2075C>T (p.Ala692Val)
|
rs759671132
|
0.00003
|
NM_017802.4(DNAAF5):c.2252G>A (p.Arg751His)
|
rs145339697
|
0.00003
|
NM_017802.4(DNAAF5):c.238C>T (p.Arg80Cys)
|
rs928452266
|
0.00003
|
NM_017802.4(DNAAF5):c.2451C>A (p.Ser817Arg)
|
rs142621969
|
0.00003
|
NM_017802.4(DNAAF5):c.802G>A (p.Val268Met)
|
rs370267615
|
0.00003
|
NM_017950.4(CCDC40):c.1526G>A (p.Arg509His)
|
rs757879326
|
0.00003
|
NM_017950.4(CCDC40):c.2800C>T (p.Arg934Trp)
|
rs775749296
|
0.00003
|
NM_017950.4(CCDC40):c.2939A>T (p.Lys980Met)
|
rs201104817
|
0.00003
|
NM_017950.4(CCDC40):c.3016C>T (p.Arg1006Cys)
|
rs553354727
|
0.00003
|
NM_017950.4(CCDC40):c.308C>T (p.Pro103Leu)
|
rs769458274
|
0.00003
|
NM_017950.4(CCDC40):c.3262C>T (p.Arg1088Cys)
|
rs766993149
|
0.00003
|
NM_017950.4(CCDC40):c.3337C>T (p.Arg1113Cys)
|
rs201250105
|
0.00003
|
NM_017950.4(CCDC40):c.3409G>A (p.Glu1137Lys)
|
rs774630271
|
0.00003
|
NM_018051.5(DYNC2I1):c.1057G>A (p.Val353Met)
|
rs201238212
|
0.00003
|
NM_018051.5(DYNC2I1):c.1438C>T (p.Arg480Trp)
|
rs370385731
|
0.00003
|
NM_018051.5(DYNC2I1):c.1484G>A (p.Arg495Gln)
|
rs772956452
|
0.00003
|
NM_018051.5(DYNC2I1):c.15+4G>A
|
rs1026363779
|
0.00003
|
NM_018051.5(DYNC2I1):c.2167G>A (p.Val723Ile)
|
rs111510513
|
0.00003
|
NM_018051.5(DYNC2I1):c.445C>T (p.Arg149Cys)
|
rs545206396
|
0.00003
|
NM_018051.5(DYNC2I1):c.49G>A (p.Asp17Asn)
|
rs374477653
|
0.00003
|
NM_018076.5(ODAD2):c.1318C>T (p.Arg440Cys)
|
rs376424270
|
0.00003
|
NM_018076.5(ODAD2):c.1594G>A (p.Val532Ile)
|
rs140950719
|
0.00003
|
NM_018076.5(ODAD2):c.2408T>C (p.Val803Ala)
|
rs757057849
|
0.00003
|
NM_018076.5(ODAD2):c.34A>G (p.Thr12Ala)
|
rs765777908
|
0.00003
|
NM_018076.5(ODAD2):c.682+3T>C
|
rs763523325
|
0.00003
|
NM_018139.3(DNAAF2):c.1102G>A (p.Glu368Lys)
|
rs1165233490
|
0.00003
|
NM_018139.3(DNAAF2):c.1120G>C (p.Gly374Arg)
|
rs886050527
|
0.00003
|
NM_018139.3(DNAAF2):c.1234G>T (p.Val412Phe)
|
rs779297300
|
0.00003
|
NM_018139.3(DNAAF2):c.2381C>T (p.Thr794Met)
|
rs185361306
|
0.00003
|
NM_018139.3(DNAAF2):c.331C>A (p.Arg111=)
|
rs761666035
|
0.00003
|
NM_018139.3(DNAAF2):c.377C>T (p.Ala126Val)
|
rs771603303
|
0.00003
|
NM_018139.3(DNAAF2):c.648G>C (p.Glu216Asp)
|
rs755099616
|
0.00003
|
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser)
|
rs782131552
|
0.00003
|
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys)
|
rs138907207
|
0.00003
|
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala)
|
rs782769549
|
0.00003
|
NM_018718.3(CEP41):c.536G>A (p.Arg179His)
|
rs140259402
|
0.00003
|
NM_018718.3(CEP41):c.725G>A (p.Arg242His)
|
rs191246968
|
0.00003
|
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln)
|
rs782105300
|
0.00003
|
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu)
|
rs863225201
|
0.00003
|
NM_019892.6(INPP5E):c.1534C>T (p.Arg512Trp)
|
rs374152018
|
0.00003
|
NM_019892.6(INPP5E):c.322G>A (p.Gly108Arg)
|
rs757082393
|
0.00003
|
NM_019892.6(INPP5E):c.422C>A (p.Pro141His)
|
rs954591293
|
0.00003
|
NM_019892.6(INPP5E):c.583C>T (p.Pro195Ser)
|
rs765819603
|
0.00003
|
NM_019892.6(INPP5E):c.685C>T (p.Arg229Trp)
|
rs774085718
|
0.00003
|
NM_019892.6(INPP5E):c.752G>C (p.Arg251Pro)
|
rs201792737
|
0.00003
|
NM_019892.6(INPP5E):c.872C>T (p.Ala291Val)
|
rs759397125
|
0.00003
|
NM_020779.4(WDR35):c.142+5A>G
|
rs762617889
|
0.00003
|
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys)
|
rs549077153
|
0.00003
|
NM_020779.4(WDR35):c.197C>T (p.Thr66Ile)
|
rs143397737
|
0.00003
|
NM_020779.4(WDR35):c.2128C>T (p.Arg710Cys)
|
rs781365658
|
0.00003
|
NM_020779.4(WDR35):c.2446C>T (p.Arg816Trp)
|
rs374027943
|
0.00003
|
NM_020779.4(WDR35):c.2864G>A (p.Arg955His)
|
rs780666056
|
0.00003
|
NM_020779.4(WDR35):c.628A>G (p.Ile210Val)
|
rs1413290520
|
0.00003
|
NM_020800.3(IFT80):c.1229C>T (p.Pro410Leu)
|
rs148396265
|
0.00003
|
NM_020800.3(IFT80):c.1292T>C (p.Ile431Thr)
|
rs777754118
|
0.00003
|
NM_020800.3(IFT80):c.1412A>G (p.Lys471Arg)
|
rs766798264
|
0.00003
|
NM_020800.3(IFT80):c.1413A>C (p.Lys471Asn)
|
rs891175325
|
0.00003
|
NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro)
|
rs137853116
|
0.00003
|
NM_020800.3(IFT80):c.370+6T>C
|
rs754136912
|
0.00003
|
NM_020800.3(IFT80):c.571A>G (p.Ile191Val)
|
rs376853807
|
0.00003
|
NM_021147.5(CCNO):c.1040C>T (p.Pro347Leu)
|
rs547968661
|
0.00003
|
NM_021147.5(CCNO):c.254G>C (p.Gly85Ala)
|
rs866215946
|
0.00003
|
NM_021147.5(CCNO):c.787C>T (p.Arg263Trp)
|
rs771099683
|
0.00003
|
NM_023036.6(DNAI2):c.11T>C (p.Val4Ala)
|
rs772185024
|
0.00003
|
NM_023036.6(DNAI2):c.289C>T (p.Arg97Trp)
|
rs1162719665
|
0.00003
|
NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe)
|
rs761389658
|
0.00003
|
NM_023036.6(DNAI2):c.487A>G (p.Arg163Gly)
|
rs753284790
|
0.00003
|
NM_023036.6(DNAI2):c.589G>A (p.Asp197Asn)
|
rs761171314
|
0.00003
|
NM_023036.6(DNAI2):c.864+4C>T
|
rs773061334
|
0.00003
|
NM_024649.5(BBS1):c.1067G>A (p.Arg356His)
|
rs771291825
|
0.00003
|
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu)
|
rs369843749
|
0.00003
|
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr)
|
rs765960634
|
0.00003
|
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln)
|
rs759253107
|
0.00003
|
NM_024649.5(BBS1):c.726G>A (p.Met242Ile)
|
rs773588060
|
0.00003
|
NM_024685.4(BBS10):c.1075C>G (p.Gln359Glu)
|
rs767572725
|
0.00003
|
NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp)
|
rs774809155
|
0.00003
|
NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp)
|
rs375746803
|
0.00003
|
NM_024685.4(BBS10):c.1970C>T (p.Thr657Ile)
|
rs773540960
|
0.00003
|
NM_024685.4(BBS10):c.198-3C>T
|
rs779659204
|
0.00003
|
NM_024685.4(BBS10):c.1A>G (p.Met1Val)
|
rs752145803
|
0.00003
|
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr)
|
rs1160564103
|
0.00003
|
NM_024753.5(TTC21B):c.1358T>A (p.Met453Lys)
|
rs373845234
|
0.00003
|
NM_024753.5(TTC21B):c.1535T>C (p.Phe512Ser)
|
rs371583620
|
0.00003
|
NM_024753.5(TTC21B):c.1798G>T (p.Ala600Ser)
|
rs369672356
|
0.00003
|
NM_024753.5(TTC21B):c.2165C>G (p.Pro722Arg)
|
rs760571843
|
0.00003
|
NM_024753.5(TTC21B):c.2966T>C (p.Leu989Ser)
|
rs552766355
|
0.00003
|
NM_024753.5(TTC21B):c.2971C>T (p.Arg991Cys)
|
rs367876567
|
0.00003
|
NM_024753.5(TTC21B):c.308G>A (p.Arg103His)
|
rs774327753
|
0.00003
|
NM_024753.5(TTC21B):c.3264-3C>G
|
rs189122492
|
0.00003
|
NM_024753.5(TTC21B):c.3640G>A (p.Asp1214Asn)
|
rs554851165
|
0.00003
|
NM_024753.5(TTC21B):c.3806-3C>T
|
rs764138635
|
0.00003
|
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys)
|
rs184586093
|
0.00003
|
NM_024753.5(TTC21B):c.3931C>T (p.Arg1311Cys)
|
rs200605660
|
0.00003
|
NM_024753.5(TTC21B):c.62A>G (p.His21Arg)
|
rs757283243
|
0.00003
|
NM_024809.5(TCTN2):c.1990C>G (p.Leu664Val)
|
rs554299771
|
0.00003
|
NM_024809.5(TCTN2):c.271G>T (p.Val91Leu)
|
rs371662397
|
0.00003
|
NM_024809.5(TCTN2):c.325G>A (p.Glu109Lys)
|
rs773010019
|
0.00003
|
NM_024809.5(TCTN2):c.412C>T (p.Leu138Phe)
|
rs372053991
|
0.00003
|
NM_024809.5(TCTN2):c.449C>G (p.Thr150Ser)
|
rs759741387
|
0.00003
|
NM_024809.5(TCTN2):c.679G>C (p.Gly227Arg)
|
rs1051821648
|
0.00003
|
NM_024809.5(TCTN2):c.781T>C (p.Ser261Pro)
|
rs140814969
|
0.00003
|
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser)
|
rs764079993
|
0.00003
|
NM_025114.4(CEP290):c.1359G>A (p.Ser453=)
|
rs779195306
|
0.00003
|
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile)
|
rs558414868
|
0.00003
|
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys)
|
rs561018129
|
0.00003
|
NM_025114.4(CEP290):c.2029C>T (p.Pro677Ser)
|
rs375523390
|
0.00003
|
NM_025114.4(CEP290):c.2367+4T>C
|
rs1413934261
|
0.00003
|
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys)
|
rs773007151
|
0.00003
|
NM_025114.4(CEP290):c.2447G>A (p.Arg816His)
|
rs768448895
|
0.00003
|
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala)
|
rs948383352
|
0.00003
|
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu)
|
rs372640024
|
0.00003
|
NM_025114.4(CEP290):c.3664G>A (p.Glu1222Lys)
|
rs770015278
|
0.00003
|
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys)
|
rs1337676817
|
0.00003
|
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys)
|
rs794727563
|
0.00003
|
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala)
|
rs769280708
|
0.00003
|
NM_025114.4(CEP290):c.4972A>G (p.Thr1658Ala)
|
rs1237184267
|
0.00003
|
NM_025114.4(CEP290):c.5010A>C (p.Leu1670Phe)
|
rs1264789609
|
0.00003
|
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln)
|
rs765944337
|
0.00003
|
NM_025114.4(CEP290):c.534G>T (p.Gln178His)
|
rs368025801
|
0.00003
|
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile)
|
rs372565248
|
0.00003
|
NM_025114.4(CEP290):c.5753G>T (p.Trp1918Leu)
|
rs371737956
|
0.00003
|
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly)
|
rs758864226
|
0.00003
|
NM_025114.4(CEP290):c.6820A>G (p.Met2274Val)
|
rs1326611388
|
0.00003
|
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly)
|
rs759725378
|
0.00003
|
NM_025114.4(CEP290):c.7126C>T (p.Pro2376Ser)
|
rs754462052
|
0.00003
|
NM_025114.4(CEP290):c.7375C>T (p.Pro2459Ser)
|
rs754398792
|
0.00003
|
NM_025114.4(CEP290):c.7397T>A (p.Phe2466Tyr)
|
rs1159836808
|
0.00003
|
NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg)
|
rs794727762
|
0.00003
|
NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg)
|
rs773773910
|
0.00003
|
NM_025132.4(WDR19):c.1114G>A (p.Val372Ile)
|
rs184326673
|
0.00003
|
NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr)
|
rs752803760
|
0.00003
|
NM_025132.4(WDR19):c.1182A>G (p.Ala394=)
|
rs769687203
|
0.00003
|
NM_025132.4(WDR19):c.1430G>A (p.Arg477His)
|
rs371117988
|
0.00003
|
NM_025132.4(WDR19):c.2087G>A (p.Arg696His)
|
rs747881116
|
0.00003
|
NM_025132.4(WDR19):c.2320A>G (p.Ile774Val)
|
rs762043395
|
0.00003
|
NM_025132.4(WDR19):c.2363C>T (p.Ala788Val)
|
rs867487924
|
0.00003
|
NM_025132.4(WDR19):c.2492T>C (p.Val831Ala)
|
rs934792994
|
0.00003
|
NM_025132.4(WDR19):c.2632C>T (p.Arg878Cys)
|
rs770091572
|
0.00003
|
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr)
|
rs1057523257
|
0.00003
|
NM_025132.4(WDR19):c.288G>A (p.Met96Ile)
|
rs374891297
|
0.00003
|
NM_025132.4(WDR19):c.2972A>G (p.Asn991Ser)
|
rs763190830
|
0.00003
|
NM_025132.4(WDR19):c.3434C>T (p.Ser1145Phe)
|
rs199625785
|
0.00003
|
NM_025132.4(WDR19):c.3633C>G (p.Phe1211Leu)
|
rs757721845
|
0.00003
|
NM_025132.4(WDR19):c.3640G>A (p.Ala1214Thr)
|
rs1206705962
|
0.00003
|
NM_025132.4(WDR19):c.3668G>A (p.Arg1223His)
|
rs115335610
|
0.00003
|
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met)
|
rs529745222
|
0.00003
|
NM_025132.4(WDR19):c.523-3T>C
|
rs747603843
|
0.00003
|
NM_030578.4(B9D2):c.262C>T (p.Arg88Cys)
|
rs781608263
|
0.00003
|
NM_030578.4(B9D2):c.263G>A (p.Arg88His)
|
rs748803301
|
0.00003
|
NM_030578.4(B9D2):c.374G>A (p.Arg125Gln)
|
rs1054797
|
0.00003
|
NM_031427.4(DNAL1):c.81G>C (p.Glu27Asp)
|
rs774964160
|
0.00003
|
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp)
|
rs143607562
|
0.00003
|
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser)
|
rs761864599
|
0.00003
|
NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp)
|
rs1175381219
|
0.00003
|
NM_031885.5(BBS2):c.1928G>A (p.Arg643His)
|
rs532361142
|
0.00003
|
NM_031885.5(BBS2):c.1982G>A (p.Arg661His)
|
rs747686535
|
0.00003
|
NM_031885.5(BBS2):c.380C>G (p.Thr127Arg)
|
rs1191790453
|
0.00003
|
NM_031885.5(BBS2):c.635T>C (p.Met212Thr)
|
rs764600063
|
0.00003
|
NM_031885.5(BBS2):c.851A>G (p.Asn284Ser)
|
rs377749641
|
0.00003
|
NM_031924.8(RSPH3):c.205C>T (p.Leu69Phe)
|
rs372887350
|
0.00003
|
NM_031924.8(RSPH3):c.26C>A (p.Thr9Asn)
|
rs377423690
|
0.00003
|
NM_031924.8(RSPH3):c.631C>T (p.Arg211Trp)
|
rs755822557
|
0.00003
|
NM_031924.8(RSPH3):c.955C>T (p.Arg319Cys)
|
rs760768253
|
0.00003
|
NM_033028.5(BBS4):c.1084G>A (p.Ala362Thr)
|
rs969384648
|
0.00003
|
NM_033028.5(BBS4):c.1223A>G (p.Asn408Ser)
|
rs751716258
|
0.00003
|
NM_033028.5(BBS4):c.1327C>G (p.Pro443Ala)
|
rs760115702
|
0.00003
|
NM_033028.5(BBS4):c.1462A>G (p.Thr488Ala)
|
rs746070171
|
0.00003
|
NM_033028.5(BBS4):c.1550G>A (p.Arg517Lys)
|
rs201651412
|
0.00003
|
NM_033028.5(BBS4):c.233G>A (p.Arg78His)
|
rs200396355
|
0.00003
|
NM_033028.5(BBS4):c.975T>A (p.His325Gln)
|
rs769873362
|
0.00003
|
NM_033124.5(CCDC65):c.1286A>G (p.Asn429Ser)
|
rs772183527
|
0.00003
|
NM_033124.5(CCDC65):c.325G>T (p.Ala109Ser)
|
rs781302965
|
0.00003
|
NM_052844.4(DYNC2I2):c.1132G>A (p.Val378Met)
|
rs367663253
|
0.00003
|
NM_052844.4(DYNC2I2):c.1504G>A (p.Asp502Asn)
|
rs776327242
|
0.00003
|
NM_052844.4(DYNC2I2):c.1550C>T (p.Thr517Met)
|
rs770066601
|
0.00003
|
NM_052844.4(DYNC2I2):c.1564C>T (p.Arg522Trp)
|
rs368864898
|
0.00003
|
NM_052844.4(DYNC2I2):c.769C>T (p.Arg257Cys)
|
rs769827993
|
0.00003
|
NM_080860.4(RSPH1):c.57A>T (p.Glu19Asp)
|
rs200861411
|
0.00003
|
NM_080860.4(RSPH1):c.674C>T (p.Pro225Leu)
|
rs201100138
|
0.00003
|
NM_080860.4(RSPH1):c.860G>A (p.Arg287His)
|
rs868793685
|
0.00003
|
NM_130810.4(DNAAF4):c.123G>A (p.Lys41=)
|
rs201530487
|
0.00003
|
NM_144596.4(TTC8):c.1040G>A (p.Arg347Gln)
|
rs1246614842
|
0.00003
|
NM_144596.4(TTC8):c.1542G>A (p.Met514Ile)
|
rs571571526
|
0.00003
|
NM_144596.4(TTC8):c.401C>T (p.Thr134Ile)
|
rs982852104
|
0.00003
|
NM_144596.4(TTC8):c.980A>G (p.Glu327Gly)
|
rs749721461
|
0.00003
|
NM_145038.5(DRC1):c.1246G>A (p.Ala416Thr)
|
rs779720693
|
0.00003
|
NM_145038.5(DRC1):c.1647C>G (p.Phe549Leu)
|
rs371052653
|
0.00003
|
NM_145038.5(DRC1):c.2029T>C (p.Trp677Arg)
|
rs765669218
|
0.00003
|
NM_145038.5(DRC1):c.2206C>T (p.Arg736Trp)
|
rs373441736
|
0.00003
|
NM_145045.5(ODAD3):c.1112C>T (p.Thr371Met)
|
rs773225513
|
0.00003
|
NM_145045.5(ODAD3):c.1380A>G (p.Gln460=)
|
rs369193216
|
0.00003
|
NM_145045.5(ODAD3):c.400G>A (p.Glu134Lys)
|
rs757510377
|
0.00003
|
NM_145045.5(ODAD3):c.71C>T (p.Ser24Phe)
|
rs771969433
|
0.00003
|
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val)
|
rs376048508
|
0.00003
|
NM_147127.5(EVC2):c.2551A>G (p.Met851Val)
|
rs373004013
|
0.00003
|
NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn)
|
rs746187559
|
0.00003
|
NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr)
|
rs747562782
|
0.00003
|
NM_147127.5(EVC2):c.361G>C (p.Gly121Arg)
|
rs748417016
|
0.00003
|
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys)
|
rs773218631
|
0.00003
|
NM_147127.5(EVC2):c.902G>C (p.Gly301Ala)
|
rs142952894
|
0.00003
|
NM_152384.3(BBS5):c.110T>C (p.Ile37Thr)
|
rs370849006
|
0.00003
|
NM_152384.3(BBS5):c.568C>T (p.His190Tyr)
|
rs1264901746
|
0.00003
|
NM_152384.3(BBS5):c.668A>T (p.Glu223Val)
|
rs775524491
|
0.00003
|
NM_152384.3(BBS5):c.808G>A (p.Glu270Lys)
|
rs199846010
|
0.00003
|
NM_152618.3(BBS12):c.1303G>A (p.Gly435Ser)
|
rs762853916
|
0.00003
|
NM_152618.3(BBS12):c.1597G>A (p.Glu533Lys)
|
rs543608786
|
0.00003
|
NM_152618.3(BBS12):c.1913A>G (p.Asn638Ser)
|
rs931117746
|
0.00003
|
NM_152618.3(BBS12):c.1931A>G (p.Asn644Ser)
|
rs777615072
|
0.00003
|
NM_152732.5(RSPH9):c.330A>G (p.Glu110=)
|
rs760134926
|
0.00003
|
NM_152732.5(RSPH9):c.718C>T (p.Arg240Cys)
|
rs756423549
|
0.00003
|
NM_152732.5(RSPH9):c.719G>A (p.Arg240His)
|
rs143815397
|
0.00003
|
NM_152732.5(RSPH9):c.787G>A (p.Val263Met)
|
rs772227123
|
0.00003
|
NM_153704.6(TMEM67):c.1177A>G (p.Ile393Val)
|
rs755280678
|
0.00003
|
NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr)
|
rs758803102
|
0.00003
|
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys)
|
rs148726767
|
0.00003
|
NM_153704.6(TMEM67):c.2783G>A (p.Ser928Asn)
|
rs538380011
|
0.00003
|
NM_153704.6(TMEM67):c.2923C>T (p.Arg975Cys)
|
rs375719305
|
0.00003
|
NM_153704.6(TMEM67):c.2924G>A (p.Arg975His)
|
rs191759530
|
0.00003
|
NM_153704.6(TMEM67):c.326A>G (p.Glu109Gly)
|
rs372886148
|
0.00003
|
NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu)
|
rs766782158
|
0.00003
|
NM_153717.3(EVC):c.1574T>G (p.Phe525Cys)
|
rs771560788
|
0.00003
|
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu)
|
rs371682994
|
0.00003
|
NM_153717.3(EVC):c.461A>G (p.Glu154Gly)
|
rs1386247667
|
0.00003
|
NM_153717.3(EVC):c.625G>A (p.Val209Ile)
|
rs202026284
|
0.00003
|
NM_153717.3(EVC):c.920C>G (p.Ser307Cys)
|
rs372548610
|
0.00003
|
NM_170784.3(MKKS):c.1067G>T (p.Gly356Val)
|
rs745728640
|
0.00003
|
NM_170784.3(MKKS):c.1161+4G>A
|
rs761886025
|
0.00003
|
NM_170784.3(MKKS):c.1265G>A (p.Arg422Lys)
|
rs754555322
|
0.00003
|
NM_170784.3(MKKS):c.464G>A (p.Arg155His)
|
rs138111422
|
0.00003
|
NM_170784.3(MKKS):c.862G>A (p.Val288Ile)
|
rs113032343
|
0.00003
|
NM_170784.3(MKKS):c.923A>G (p.His308Arg)
|
rs967873180
|
0.00003
|
NM_176824.3(BBS7):c.1336C>T (p.Arg446Trp)
|
rs768987725
|
0.00003
|
NM_176824.3(BBS7):c.1585C>T (p.Pro529Ser)
|
rs771957843
|
0.00003
|
NM_176824.3(BBS7):c.1746A>G (p.Lys582=)
|
rs1185659710
|
0.00003
|
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly)
|
rs201096775
|
0.00003
|
NM_176824.3(BBS7):c.908A>T (p.Asp303Val)
|
rs1261951183
|
0.00003
|
NM_178452.6(DNAAF1):c.1191G>C (p.Glu397Asp)
|
rs757727188
|
0.00003
|
NM_178452.6(DNAAF1):c.1853G>A (p.Arg618Gln)
|
rs372901697
|
0.00003
|
NM_178452.6(DNAAF1):c.1994G>A (p.Cys665Tyr)
|
rs769986363
|
0.00003
|
NM_178452.6(DNAAF1):c.2128G>T (p.Ala710Ser)
|
rs552601600
|
0.00003
|
NM_178452.6(DNAAF1):c.332C>T (p.Thr111Met)
|
rs375812500
|
0.00003
|
NM_178452.6(DNAAF1):c.460C>T (p.Arg154Cys)
|
rs574238677
|
0.00003
|
NM_181426.2(CCDC39):c.2238A>T (p.Gln746His)
|
rs876657752
|
0.00003
|
NM_181426.2(CCDC39):c.2366C>T (p.Thr789Met)
|
rs747000468
|
0.00003
|
NM_181426.2(CCDC39):c.245G>A (p.Ser82Asn)
|
rs776886552
|
0.00003
|
NM_181426.2(CCDC39):c.2735C>T (p.Pro912Leu)
|
rs760435440
|
0.00003
|
NM_181426.2(CCDC39):c.609+3T>C
|
rs761548484
|
0.00003
|
NM_181426.2(CCDC39):c.821G>A (p.Gly274Glu)
|
rs752180569
|
0.00003
|
NM_198428.3(BBS9):c.1264G>T (p.Asp422Tyr)
|
rs140198337
|
0.00003
|
NM_198428.3(BBS9):c.1480A>T (p.Ser494Cys)
|
rs765846163
|
0.00003
|
NM_198428.3(BBS9):c.1486A>G (p.Thr496Ala)
|
rs369146555
|
0.00003
|
NM_198428.3(BBS9):c.1801A>G (p.Ile601Val)
|
rs377588119
|
0.00003
|
NM_198428.3(BBS9):c.2020C>T (p.Arg674Trp)
|
rs368526968
|
0.00003
|
NM_198428.3(BBS9):c.2174C>T (p.Thr725Ile)
|
rs749948775
|
0.00003
|
NM_198428.3(BBS9):c.2488G>A (p.Asp830Asn)
|
rs368704638
|
0.00003
|
NM_198525.3(KIF7):c.1124C>A (p.Pro375Gln)
|
rs557460012
|
0.00003
|
NM_198525.3(KIF7):c.1157A>T (p.His386Leu)
|
rs886051537
|
0.00003
|
NM_198525.3(KIF7):c.1515C>G (p.Asp505Glu)
|
rs377280724
|
0.00003
|
NM_198525.3(KIF7):c.152G>A (p.Arg51His)
|
rs555261308
|
0.00003
|
NM_198525.3(KIF7):c.1789-8del
|
rs747332157
|
0.00003
|
NM_198525.3(KIF7):c.1918C>T (p.Arg640Cys)
|
rs553948489
|
0.00003
|
NM_198525.3(KIF7):c.2165A>G (p.Glu722Gly)
|
rs758416079
|
0.00003
|
NM_198525.3(KIF7):c.2239G>C (p.Glu747Gln)
|
rs760121687
|
0.00003
|
NM_198525.3(KIF7):c.2321T>C (p.Leu774Pro)
|
rs762864604
|
0.00003
|
NM_198525.3(KIF7):c.235C>T (p.Leu79Phe)
|
rs1388988537
|
0.00003
|
NM_198525.3(KIF7):c.250G>A (p.Glu84Lys)
|
rs775919883
|
0.00003
|
NM_198525.3(KIF7):c.2522G>A (p.Arg841Gln)
|
rs750616880
|
0.00003
|
NM_198525.3(KIF7):c.2551C>T (p.Arg851Cys)
|
rs201341169
|
0.00003
|
NM_198525.3(KIF7):c.2628C>G (p.Ile876Met)
|
rs376919553
|
0.00003
|
NM_198525.3(KIF7):c.2735A>G (p.Lys912Arg)
|
rs764430327
|
0.00003
|
NM_198525.3(KIF7):c.2780G>A (p.Arg927Gln)
|
rs757264957
|
0.00003
|
NM_198525.3(KIF7):c.2878C>T (p.Arg960Cys)
|
rs766652877
|
0.00003
|
NM_198525.3(KIF7):c.3211C>T (p.Arg1071Trp)
|
rs570460369
|
0.00003
|
NM_198525.3(KIF7):c.3436C>T (p.Arg1146Cys)
|
rs766975299
|
0.00003
|
NM_198525.3(KIF7):c.3456G>C (p.Gln1152His)
|
rs769648374
|
0.00003
|
NM_198525.3(KIF7):c.355A>G (p.Ile119Val)
|
rs761226001
|
0.00003
|
NM_198525.3(KIF7):c.376G>A (p.Glu126Lys)
|
rs886051544
|
0.00003
|
NM_198525.3(KIF7):c.3962T>C (p.Leu1321Ser)
|
rs375983330
|
0.00003
|
NM_198525.3(KIF7):c.425A>G (p.His142Arg)
|
rs551697037
|
0.00003
|
NM_213607.3(CCDC103):c.302C>T (p.Thr101Met)
|
rs764426959
|
0.00003
|
NM_213607.3(CCDC103):c.445G>A (p.Val149Met)
|
rs746981376
|
0.00003
|
NM_213607.3(CCDC103):c.485C>T (p.Ala162Val)
|
rs146454626
|
0.00003
|
NC_000009.12:g.136439418_136439426dup
|
rs1489150239
|
0.00002
|
NM_001010892.3(RSPH4A):c.1061G>A (p.Arg354His)
|
rs367712020
|
0.00002
|
NM_001010892.3(RSPH4A):c.1121G>A (p.Arg374His)
|
rs141217974
|
0.00002
|
NM_001010892.3(RSPH4A):c.1361T>C (p.Ile454Thr)
|
rs752047678
|
0.00002
|
NM_001010892.3(RSPH4A):c.1436A>G (p.Asn479Ser)
|
rs766529254
|
0.00002
|
NM_001010892.3(RSPH4A):c.1547C>T (p.Ala516Val)
|
rs771315690
|
0.00002
|
NM_001010892.3(RSPH4A):c.1877C>G (p.Ser626Cys)
|
rs920198802
|
0.00002
|
NM_001010892.3(RSPH4A):c.1928A>T (p.Asn643Ile)
|
rs779796065
|
0.00002
|
NM_001010892.3(RSPH4A):c.1969T>C (p.Tyr657His)
|
rs769766758
|
0.00002
|
NM_001010892.3(RSPH4A):c.1976C>A (p.Pro659His)
|
rs372634959
|
0.00002
|
NM_001010892.3(RSPH4A):c.2135A>G (p.Glu712Gly)
|
rs765412618
|
0.00002
|
NM_001010892.3(RSPH4A):c.259C>T (p.Pro87Ser)
|
rs767490154
|
0.00002
|
NM_001010892.3(RSPH4A):c.560A>T (p.Asn187Ile)
|
rs758078631
|
0.00002
|
NM_001034853.2(RPGR):c.1309C>T (p.Leu437Phe)
|
rs531930581
|
0.00002
|
NM_001034853.2(RPGR):c.32C>T (p.Ser11Leu)
|
rs143975950
|
0.00002
|
NM_001034853.2(RPGR):c.827T>G (p.Leu276Arg)
|
rs771616566
|
0.00002
|
NM_001044385.3(TMEM237):c.137-3T>C
|
rs540193518
|
0.00002
|
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser)
|
rs1269827788
|
0.00002
|
NM_001044385.3(TMEM237):c.206C>G (p.Thr69Ser)
|
rs372581479
|
0.00002
|
NM_001044385.3(TMEM237):c.353C>T (p.Pro118Leu)
|
rs17856844
|
0.00002
|
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp)
|
rs754056989
|
0.00002
|
NM_001077418.3(TMEM231):c.-17G>A
|
rs768513169
|
0.00002
|
NM_001077418.3(TMEM231):c.139+17C>T
|
rs759518508
|
0.00002
|
NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln)
|
rs771783989
|
0.00002
|
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr)
|
rs753709447
|
0.00002
|
NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser)
|
rs775968168
|
0.00002
|
NM_001077418.3(TMEM231):c.387G>A (p.Thr129=)
|
rs774761408
|
0.00002
|
NM_001077418.3(TMEM231):c.464G>C (p.Ser155Thr)
|
rs768932063
|
0.00002
|
NM_001077418.3(TMEM231):c.5C>T (p.Ala2Val)
|
rs778298588
|
0.00002
|
NM_001077418.3(TMEM231):c.617A>G (p.Tyr206Cys)
|
rs374279951
|
0.00002
|
NM_001077418.3(TMEM231):c.805G>A (p.Ala269Thr)
|
rs775383043
|
0.00002
|
NM_001077418.3(TMEM231):c.883C>G (p.Gln295Glu)
|
rs761280513
|
0.00002
|
NM_001077418.3(TMEM231):c.919C>T (p.Arg307Trp)
|
rs770715825
|
0.00002
|
NM_001080463.2(DYNC2H1):c.9824T>C (p.Ile3275Thr)
|
rs377493103
|
0.00002
|
NM_001082538.3(TCTN1):c.1271T>C (p.Leu424Pro)
|
rs751036661
|
0.00002
|
NM_001082538.3(TCTN1):c.574T>A (p.Tyr192Asn)
|
rs370252911
|
0.00002
|
NM_001082538.3(TCTN1):c.823-3T>A
|
rs757410579
|
0.00002
|
NM_001082538.3(TCTN1):c.865A>G (p.Ile289Val)
|
rs1035223063
|
0.00002
|
NM_001134831.2(AHI1):c.1272T>G (p.Ile424Met)
|
rs752889085
|
0.00002
|
NM_001134831.2(AHI1):c.1363G>A (p.Val455Met)
|
rs775076049
|
0.00002
|
NM_001134831.2(AHI1):c.1405T>C (p.Cys469Arg)
|
rs539194432
|
0.00002
|
NM_001134831.2(AHI1):c.1507A>G (p.Thr503Ala)
|
rs946149286
|
0.00002
|
NM_001134831.2(AHI1):c.170A>G (p.Lys57Arg)
|
rs762906949
|
0.00002
|
NM_001134831.2(AHI1):c.1766G>A (p.Arg589Gln)
|
rs757910826
|
0.00002
|
NM_001134831.2(AHI1):c.1859A>G (p.Asn620Ser)
|
rs773892320
|
0.00002
|
NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp)
|
rs748010693
|
0.00002
|
NM_001134831.2(AHI1):c.191C>A (p.Pro64His)
|
rs574938408
|
0.00002
|
NM_001134831.2(AHI1):c.193G>A (p.Asp65Asn)
|
rs1001283344
|
0.00002
|
NM_001134831.2(AHI1):c.194A>C (p.Asp65Ala)
|
rs764230638
|
0.00002
|
NM_001134831.2(AHI1):c.2037-3C>G
|
rs1206317271
|
0.00002
|
NM_001134831.2(AHI1):c.214C>A (p.Pro72Thr)
|
rs1173813597
|
0.00002
|
NM_001134831.2(AHI1):c.224A>T (p.Lys75Ile)
|
rs747661291
|
0.00002
|
NM_001134831.2(AHI1):c.2267G>C (p.Gly756Ala)
|
rs372012542
|
0.00002
|
NM_001134831.2(AHI1):c.242A>G (p.Asp81Gly)
|
rs538208208
|
0.00002
|
NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln)
|
rs775785006
|
0.00002
|
NM_001134831.2(AHI1):c.2560T>C (p.Cys854Arg)
|
rs1387769677
|
0.00002
|
NM_001134831.2(AHI1):c.2813C>T (p.Pro938Leu)
|
rs1170550561
|
0.00002
|
NM_001134831.2(AHI1):c.2951A>T (p.Glu984Val)
|
rs780642756
|
0.00002
|
NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr)
|
rs750383545
|
0.00002
|
NM_001134831.2(AHI1):c.3108C>T (p.Thr1036=)
|
rs761976492
|
0.00002
|
NM_001134831.2(AHI1):c.3245T>G (p.Phe1082Cys)
|
rs763991049
|
0.00002
|
NM_001134831.2(AHI1):c.3328A>G (p.Thr1110Ala)
|
rs1380307778
|
0.00002
|
NM_001134831.2(AHI1):c.3365G>A (p.Arg1122Gln)
|
rs372888581
|
0.00002
|
NM_001134831.2(AHI1):c.3588G>A (p.Glu1196=)
|
rs201791936
|
0.00002
|
NM_001134831.2(AHI1):c.652T>C (p.Tyr218His)
|
rs758481039
|
0.00002
|
NM_001134831.2(AHI1):c.670T>G (p.Leu224Val)
|
rs767206985
|
0.00002
|
NM_001134831.2(AHI1):c.68A>T (p.His23Leu)
|
rs746992537
|
0.00002
|
NM_001134831.2(AHI1):c.868G>A (p.Glu290Lys)
|
rs763856608
|
0.00002
|
NM_001134831.2(AHI1):c.995C>T (p.Pro332Leu)
|
rs773359044
|
0.00002
|
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val)
|
rs1441727203
|
0.00002
|
NM_001173990.3(TMEM216):c.335A>G (p.Tyr112Cys)
|
rs1170057144
|
0.00002
|
NM_001174150.2(ARL13B):c.1276G>A (p.Val426Met)
|
rs542576070
|
0.00002
|
NM_001174150.2(ARL13B):c.205A>G (p.Ile69Val)
|
rs774341143
|
0.00002
|
NM_001174150.2(ARL13B):c.319A>G (p.Thr107Ala)
|
rs757443869
|
0.00002
|
NM_001174150.2(ARL13B):c.873T>A (p.His291Gln)
|
rs143435132
|
0.00002
|
NM_001199397.3(NEK1):c.1030A>G (p.Thr344Ala)
|
rs780547342
|
0.00002
|
NM_001199397.3(NEK1):c.2306A>G (p.His769Arg)
|
rs375173827
|
0.00002
|
NM_001199397.3(NEK1):c.3301C>T (p.Arg1101Cys)
|
rs759413316
|
0.00002
|
NM_001199397.3(NEK1):c.3586A>G (p.Asn1196Asp)
|
rs1249604313
|
0.00002
|
NM_001199397.3(NEK1):c.3809T>G (p.Ile1270Ser)
|
rs778919560
|
0.00002
|
NM_001199397.3(NEK1):c.464+6A>G
|
rs550184264
|
0.00002
|
NM_001206927.2(DNAH8):c.1007A>C (p.Asn336Thr)
|
rs111566149
|
0.00002
|
NM_001206927.2(DNAH8):c.10363A>G (p.Ile3455Val)
|
rs774568425
|
0.00002
|
NM_001206927.2(DNAH8):c.10549C>T (p.Arg3517Trp)
|
rs368736066
|
0.00002
|
NM_001206927.2(DNAH8):c.10672A>G (p.Asn3558Asp)
|
rs746067892
|
0.00002
|
NM_001206927.2(DNAH8):c.10903C>T (p.Arg3635Trp)
|
rs149334389
|
0.00002
|
NM_001206927.2(DNAH8):c.11203C>T (p.His3735Tyr)
|
rs1215135195
|
0.00002
|
NM_001206927.2(DNAH8):c.11378C>T (p.Thr3793Met)
|
rs370303492
|
0.00002
|
NM_001206927.2(DNAH8):c.11430_11432del (p.Arg3812del)
|
rs771033562
|
0.00002
|
NM_001206927.2(DNAH8):c.11510G>A (p.Arg3837Gln)
|
rs779195376
|
0.00002
|
NM_001206927.2(DNAH8):c.11519A>G (p.Lys3840Arg)
|
rs759193789
|
0.00002
|
NM_001206927.2(DNAH8):c.11531A>T (p.Asp3844Val)
|
rs760781678
|
0.00002
|
NM_001206927.2(DNAH8):c.11702C>T (p.Ala3901Val)
|
rs749482996
|
0.00002
|
NM_001206927.2(DNAH8):c.11818T>C (p.Ser3940Pro)
|
rs752843257
|
0.00002
|
NM_001206927.2(DNAH8):c.11943G>A (p.Met3981Ile)
|
rs376317347
|
0.00002
|
NM_001206927.2(DNAH8):c.12497G>A (p.Arg4166Gln)
|
rs770628767
|
0.00002
|
NM_001206927.2(DNAH8):c.1277A>C (p.His426Pro)
|
rs757379846
|
0.00002
|
NM_001206927.2(DNAH8):c.12794C>T (p.Pro4265Leu)
|
rs371913220
|
0.00002
|
NM_001206927.2(DNAH8):c.13402C>T (p.Leu4468Phe)
|
rs200138700
|
0.00002
|
NM_001206927.2(DNAH8):c.13427G>A (p.Arg4476Lys)
|
rs762630419
|
0.00002
|
NM_001206927.2(DNAH8):c.13541T>C (p.Leu4514Pro)
|
rs745689526
|
0.00002
|
NM_001206927.2(DNAH8):c.1356A>T (p.Arg452Ser)
|
rs943639840
|
0.00002
|
NM_001206927.2(DNAH8):c.13589C>G (p.Ser4530Cys)
|
rs761515917
|
0.00002
|
NM_001206927.2(DNAH8):c.13888C>T (p.Arg4630Trp)
|
rs368133429
|
0.00002
|
NM_001206927.2(DNAH8):c.2177G>A (p.Arg726His)
|
rs747524974
|
0.00002
|
NM_001206927.2(DNAH8):c.2185C>G (p.Pro729Ala)
|
rs866179461
|
0.00002
|
NM_001206927.2(DNAH8):c.2434G>A (p.Gly812Arg)
|
rs888196252
|
0.00002
|
NM_001206927.2(DNAH8):c.2480G>A (p.Arg827Gln)
|
rs765369792
|
0.00002
|
NM_001206927.2(DNAH8):c.24C>T (p.Gly8=)
|
rs754363459
|
0.00002
|
NM_001206927.2(DNAH8):c.3014G>A (p.Gly1005Glu)
|
rs1376949943
|
0.00002
|
NM_001206927.2(DNAH8):c.3530T>C (p.Phe1177Ser)
|
rs372754063
|
0.00002
|
NM_001206927.2(DNAH8):c.3818T>C (p.Ile1273Thr)
|
rs375776680
|
0.00002
|
NM_001206927.2(DNAH8):c.4065G>C (p.Met1355Ile)
|
rs779036783
|
0.00002
|
NM_001206927.2(DNAH8):c.4957G>A (p.Glu1653Lys)
|
rs765334148
|
0.00002
|
NM_001206927.2(DNAH8):c.5125C>T (p.Leu1709Phe)
|
rs767897929
|
0.00002
|
NM_001206927.2(DNAH8):c.5569G>A (p.Val1857Ile)
|
rs769383206
|
0.00002
|
NM_001206927.2(DNAH8):c.6256G>A (p.Val2086Met)
|
rs748005521
|
0.00002
|
NM_001206927.2(DNAH8):c.6517C>T (p.Arg2173Cys)
|
rs773222614
|
0.00002
|
NM_001206927.2(DNAH8):c.6754A>C (p.Lys2252Gln)
|
rs1320995212
|
0.00002
|
NM_001206927.2(DNAH8):c.6868G>A (p.Asp2290Asn)
|
rs374774952
|
0.00002
|
NM_001206927.2(DNAH8):c.6896G>A (p.Ser2299Asn)
|
rs1269105628
|
0.00002
|
NM_001206927.2(DNAH8):c.787G>A (p.Ala263Thr)
|
rs1411109414
|
0.00002
|
NM_001244189.2(KIAA0586):c.4T>C (p.Phe2Leu)
|
rs1251319519
|
0.00002
|
NM_001244189.2(KIAA0586):c.9+1G>A
|
rs1490434047
|
0.00002
|
NM_001256715.2(DNAAF3):c.34G>C (p.Gly12Arg)
|
rs759585776
|
0.00002
|
NM_001256715.2(DNAAF3):c.578G>A (p.Arg193His)
|
rs983176695
|
0.00002
|
NM_001256715.2(DNAAF3):c.847G>A (p.Val283Met)
|
rs1039202842
|
0.00002
|
NM_001277115.2(DNAH11):c.12750+6G>A
|
rs781697241
|
0.00002
|
NM_001277115.2(DNAH11):c.13420C>A (p.Gln4474Lys)
|
rs1467862243
|
0.00002
|
NM_001277115.2(DNAH11):c.13445G>A (p.Arg4482Lys)
|
rs191791959
|
0.00002
|
NM_001277115.2(DNAH11):c.185T>C (p.Leu62Pro)
|
rs969842140
|
0.00002
|
NM_001277115.2(DNAH11):c.1974-3C>T
|
rs761630483
|
0.00002
|
NM_001277115.2(DNAH11):c.2169G>C (p.Lys723Asn)
|
rs1342718835
|
0.00002
|
NM_001277115.2(DNAH11):c.2459C>T (p.Thr820Met)
|
rs561381811
|
0.00002
|
NM_001277115.2(DNAH11):c.4670G>A (p.Arg1557Gln)
|
rs1166407911
|
0.00002
|
NM_001277115.2(DNAH11):c.5644T>A (p.Ser1882Thr)
|
rs779521671
|
0.00002
|
NM_001277115.2(DNAH11):c.8317G>T (p.Gly2773Cys)
|
rs569296562
|
0.00002
|
NM_001278293.3(ARL6):c.17G>C (p.Arg6Thr)
|
rs751957701
|
0.00002
|
NM_001278293.3(ARL6):c.266C>G (p.Ala89Gly)
|
rs587777805
|
0.00002
|
NM_001278293.3(ARL6):c.458A>G (p.Lys153Arg)
|
rs771963434
|
0.00002
|
NM_001329943.3(KIAA0586):c.1478G>C (p.Gly493Ala)
|
rs780301208
|
0.00002
|
NM_001329943.3(KIAA0586):c.1529G>A (p.Arg510His)
|
rs749710241
|
0.00002
|
NM_001329943.3(KIAA0586):c.2033G>A (p.Arg678Lys)
|
rs1040832003
|
0.00002
|
NM_001329943.3(KIAA0586):c.2171A>G (p.Gln724Arg)
|
rs758553529
|
0.00002
|
NM_001329943.3(KIAA0586):c.2201C>G (p.Pro734Arg)
|
rs372160214
|
0.00002
|
NM_001329943.3(KIAA0586):c.2269A>G (p.Asn757Asp)
|
rs770532816
|
0.00002
|
NM_001329943.3(KIAA0586):c.2279C>A (p.Thr760Asn)
|
rs745459956
|
0.00002
|
NM_001329943.3(KIAA0586):c.2288C>T (p.Pro763Leu)
|
rs762324359
|
0.00002
|
NM_001329943.3(KIAA0586):c.2338A>G (p.Ile780Val)
|
rs752597351
|
0.00002
|
NM_001329943.3(KIAA0586):c.2634+4A>G
|
rs1373493143
|
0.00002
|
NM_001329943.3(KIAA0586):c.269G>A (p.Ser90Asn)
|
rs780403471
|
0.00002
|
NM_001329943.3(KIAA0586):c.2743G>A (p.Ala915Thr)
|
rs757075176
|
0.00002
|
NM_001329943.3(KIAA0586):c.2765C>T (p.Ala922Val)
|
rs778611816
|
0.00002
|
NM_001329943.3(KIAA0586):c.2810A>G (p.Asn937Ser)
|
rs1287641719
|
0.00002
|
NM_001329943.3(KIAA0586):c.2984A>G (p.Asp995Gly)
|
rs368583200
|
0.00002
|
NM_001329943.3(KIAA0586):c.3259G>A (p.Asp1087Asn)
|
rs780444812
|
0.00002
|
NM_001329943.3(KIAA0586):c.3260A>G (p.Asp1087Gly)
|
rs747213685
|
0.00002
|
NM_001329943.3(KIAA0586):c.3343A>G (p.Thr1115Ala)
|
rs773967297
|
0.00002
|
NM_001329943.3(KIAA0586):c.3511C>G (p.Leu1171Val)
|
rs752970542
|
0.00002
|
NM_001329943.3(KIAA0586):c.3971A>G (p.Gln1324Arg)
|
rs554032625
|
0.00002
|
NM_001329943.3(KIAA0586):c.4093C>T (p.Pro1365Ser)
|
rs776582851
|
0.00002
|
NM_001329943.3(KIAA0586):c.411-1420A>G
|
rs1037899594
|
0.00002
|
NM_001329943.3(KIAA0586):c.4207A>G (p.Met1403Val)
|
rs890327400
|
0.00002
|
NM_001329943.3(KIAA0586):c.4451G>A (p.Arg1484Gln)
|
rs746312329
|
0.00002
|
NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser)
|
rs757161449
|
0.00002
|
NM_001329943.3(KIAA0586):c.836C>T (p.Thr279Ile)
|
rs779264142
|
0.00002
|
NM_001364171.2(ODAD1):c.1240+6C>T
|
rs771135040
|
0.00002
|
NM_001364171.2(ODAD1):c.1646T>C (p.Leu549Pro)
|
rs867113107
|
0.00002
|
NM_001364171.2(ODAD1):c.1921G>A (p.Val641Ile)
|
rs774257310
|
0.00002
|
NM_001364171.2(ODAD1):c.1937A>T (p.Tyr646Phe)
|
rs780723224
|
0.00002
|
NM_001364171.2(ODAD1):c.1994G>C (p.Gly665Ala)
|
rs750920206
|
0.00002
|
NM_001364171.2(ODAD1):c.667G>A (p.Glu223Lys)
|
rs773119584
|
0.00002
|
NM_001364171.2(ODAD1):c.703C>T (p.Arg235Cys)
|
rs113520498
|
0.00002
|
NM_001369.3(DNAH5):c.10312C>T (p.Leu3438Phe)
|
rs1165709485
|
0.00002
|
NM_001369.3(DNAH5):c.10982A>G (p.Asp3661Gly)
|
rs1420575942
|
0.00002
|
NM_001369.3(DNAH5):c.11312C>T (p.Thr3771Ile)
|
rs545183484
|
0.00002
|
NM_001369.3(DNAH5):c.11465G>A (p.Arg3822Gln)
|
rs779624238
|
0.00002
|
NM_001369.3(DNAH5):c.11685C>G (p.Phe3895Leu)
|
rs149892711
|
0.00002
|
NM_001369.3(DNAH5):c.12157T>C (p.Ser4053Pro)
|
rs140496584
|
0.00002
|
NM_001369.3(DNAH5):c.12361C>T (p.Leu4121Phe)
|
rs144234655
|
0.00002
|
NM_001369.3(DNAH5):c.12734T>C (p.Met4245Thr)
|
rs766597612
|
0.00002
|
NM_001369.3(DNAH5):c.128T>C (p.Ile43Thr)
|
rs767228474
|
0.00002
|
NM_001369.3(DNAH5):c.1382A>G (p.Gln461Arg)
|
rs886060013
|
0.00002
|
NM_001369.3(DNAH5):c.1658A>G (p.Lys553Arg)
|
rs767525835
|
0.00002
|
NM_001369.3(DNAH5):c.2122G>T (p.Val708Leu)
|
rs779509527
|
0.00002
|
NM_001369.3(DNAH5):c.4418T>C (p.Ile1473Thr)
|
rs779510008
|
0.00002
|
NM_001369.3(DNAH5):c.4420G>C (p.Asp1474His)
|
rs371703906
|
0.00002
|
NM_001369.3(DNAH5):c.5663C>T (p.Thr1888Ile)
|
rs777579934
|
0.00002
|
NM_001369.3(DNAH5):c.5714A>G (p.His1905Arg)
|
rs776745317
|
0.00002
|
NM_001369.3(DNAH5):c.6416A>G (p.Lys2139Arg)
|
rs151336435
|
0.00002
|
NM_001369.3(DNAH5):c.698C>T (p.Thr233Ile)
|
rs1416012949
|
0.00002
|
NM_001369.3(DNAH5):c.7371G>C (p.Gln2457His)
|
rs1561324970
|
0.00002
|
NM_001369.3(DNAH5):c.7574G>A (p.Gly2525Glu)
|
rs1465026258
|
0.00002
|
NM_001369.3(DNAH5):c.8647+6C>T
|
rs200250503
|
0.00002
|
NM_001369.3(DNAH5):c.8897C>T (p.Thr2966Met)
|
rs202021335
|
0.00002
|
NM_001369.3(DNAH5):c.8926G>A (p.Val2976Ile)
|
rs752086486
|
0.00002
|
NM_001375405.1(CEP120):c.2259C>A (p.Asp753Glu)
|
rs771949596
|
0.00002
|
NM_001375405.1(CEP120):c.38C>A (p.Ser13Tyr)
|
rs772928146
|
0.00002
|
NM_001375405.1(CEP120):c.65A>G (p.Lys22Arg)
|
rs763850647
|
0.00002
|
NM_001377.3(DYNC2H1):c.10946G>A (p.Arg3649His)
|
rs753691638
|
0.00002
|
NM_001377.3(DYNC2H1):c.10993C>A (p.Leu3665Ile)
|
rs747268336
|
0.00002
|
NM_001377.3(DYNC2H1):c.11489A>G (p.Tyr3830Cys)
|
rs757922501
|
0.00002
|
NM_001377.3(DYNC2H1):c.11887A>G (p.Ser3963Gly)
|
rs373776864
|
0.00002
|
NM_001377.3(DYNC2H1):c.12010C>T (p.Arg4004Cys)
|
rs768839818
|
0.00002
|
NM_001377.3(DYNC2H1):c.12703A>T (p.Asn4235Tyr)
|
rs886047580
|
0.00002
|
NM_001377.3(DYNC2H1):c.254T>A (p.Val85Glu)
|
rs775389478
|
0.00002
|
NM_001377.3(DYNC2H1):c.4561A>G (p.Thr1521Ala)
|
rs756098102
|
0.00002
|
NM_001377.3(DYNC2H1):c.5380G>T (p.Ala1794Ser)
|
rs761506672
|
0.00002
|
NM_001377.3(DYNC2H1):c.5852A>G (p.Asn1951Ser)
|
rs753418235
|
0.00002
|
NM_001377.3(DYNC2H1):c.7838A>G (p.Lys2613Arg)
|
rs778285080
|
0.00002
|
NM_001377.3(DYNC2H1):c.7879A>C (p.Ile2627Leu)
|
rs751745945
|
0.00002
|
NM_001377.3(DYNC2H1):c.998A>C (p.Glu333Ala)
|
rs763366904
|
0.00002
|
NM_001378454.1(ALMS1):c.10081G>T (p.Ala3361Ser)
|
rs770904502
|
0.00002
|
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr)
|
rs763306448
|
0.00002
|
NM_001378454.1(ALMS1):c.10427T>C (p.Val3476Ala)
|
rs750128969
|
0.00002
|
NM_001378454.1(ALMS1):c.10550A>G (p.His3517Arg)
|
rs753393562
|
0.00002
|
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly)
|
rs773075850
|
0.00002
|
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln)
|
rs148044176
|
0.00002
|
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg)
|
rs45452795
|
0.00002
|
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys)
|
rs565098671
|
0.00002
|
NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr)
|
rs199872225
|
0.00002
|
NM_001378454.1(ALMS1):c.1153A>G (p.Ser385Gly)
|
rs761174114
|
0.00002
|
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr)
|
rs45630562
|
0.00002
|
NM_001378454.1(ALMS1):c.11897A>T (p.Glu3966Val)
|
rs377523400
|
0.00002
|
NM_001378454.1(ALMS1):c.12016T>C (p.Cys4006Arg)
|
rs201959964
|
0.00002
|
NM_001378454.1(ALMS1):c.12040C>T (p.Arg4014Trp)
|
rs543346172
|
0.00002
|
NM_001378454.1(ALMS1):c.12137C>A (p.Pro4046His)
|
rs751862434
|
0.00002
|
NM_001378454.1(ALMS1):c.12227G>A (p.Arg4076Gln)
|
rs200814417
|
0.00002
|
NM_001378454.1(ALMS1):c.12274C>T (p.Arg4092Cys)
|
rs774888526
|
0.00002
|
NM_001378454.1(ALMS1):c.12376C>T (p.Leu4126Phe)
|
rs746923966
|
0.00002
|
NM_001378454.1(ALMS1):c.1238-20A>G
|
rs771811655
|
0.00002
|
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter)
|
rs192496253
|
0.00002
|
NM_001378454.1(ALMS1):c.12473A>G (p.Asn4158Ser)
|
rs752828644
|
0.00002
|
NM_001378454.1(ALMS1):c.1450G>C (p.Gly484Arg)
|
rs1212388844
|
0.00002
|
NM_001378454.1(ALMS1):c.1633A>G (p.Thr545Ala)
|
rs201647675
|
0.00002
|
NM_001378454.1(ALMS1):c.1634C>T (p.Thr545Ile)
|
rs772068213
|
0.00002
|
NM_001378454.1(ALMS1):c.1651A>T (p.Thr551Ser)
|
rs1271418277
|
0.00002
|
NM_001378454.1(ALMS1):c.176A>T (p.His59Leu)
|
rs772683919
|
0.00002
|
NM_001378454.1(ALMS1):c.1969C>G (p.Gln657Glu)
|
rs1371488235
|
0.00002
|
NM_001378454.1(ALMS1):c.2059C>T (p.His687Tyr)
|
rs771266951
|
0.00002
|
NM_001378454.1(ALMS1):c.2293T>C (p.Ser765Pro)
|
rs373936479
|
0.00002
|
NM_001378454.1(ALMS1):c.2345A>G (p.His782Arg)
|
rs549457439
|
0.00002
|
NM_001378454.1(ALMS1):c.2420C>G (p.Pro807Arg)
|
rs372717861
|
0.00002
|
NM_001378454.1(ALMS1):c.2686C>G (p.Gln896Glu)
|
rs376834704
|
0.00002
|
NM_001378454.1(ALMS1):c.2739G>C (p.Lys913Asn)
|
rs373378385
|
0.00002
|
NM_001378454.1(ALMS1):c.2804C>T (p.Ser935Leu)
|
rs1183510271
|
0.00002
|
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val)
|
rs773630367
|
0.00002
|
NM_001378454.1(ALMS1):c.3318C>G (p.Phe1106Leu)
|
rs1044966122
|
0.00002
|
NM_001378454.1(ALMS1):c.3403G>A (p.Gly1135Ser)
|
rs1419651180
|
0.00002
|
NM_001378454.1(ALMS1):c.3431A>T (p.Tyr1144Phe)
|
rs749513495
|
0.00002
|
NM_001378454.1(ALMS1):c.343C>T (p.His115Tyr)
|
rs759255714
|
0.00002
|
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser)
|
rs767103091
|
0.00002
|
NM_001378454.1(ALMS1):c.3545C>T (p.Thr1182Ile)
|
rs778965893
|
0.00002
|
NM_001378454.1(ALMS1):c.3604T>C (p.Tyr1202His)
|
rs766931841
|
0.00002
|
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr)
|
rs373835067
|
0.00002
|
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala)
|
rs760866713
|
0.00002
|
NM_001378454.1(ALMS1):c.460T>A (p.Ser154Thr)
|
rs767106643
|
0.00002
|
NM_001378454.1(ALMS1):c.4829T>C (p.Ile1610Thr)
|
rs757356524
|
0.00002
|
NM_001378454.1(ALMS1):c.5194A>T (p.Thr1732Ser)
|
rs370735089
|
0.00002
|
NM_001378454.1(ALMS1):c.5566C>G (p.His1856Asp)
|
rs777664567
|
0.00002
|
NM_001378454.1(ALMS1):c.5694T>A (p.Asn1898Lys)
|
rs1317035563
|
0.00002
|
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala)
|
rs761428155
|
0.00002
|
NM_001378454.1(ALMS1):c.5860G>A (p.Glu1954Lys)
|
rs1313974028
|
0.00002
|
NM_001378454.1(ALMS1):c.5971T>G (p.Ser1991Ala)
|
rs777227174
|
0.00002
|
NM_001378454.1(ALMS1):c.679C>T (p.Pro227Ser)
|
rs756201461
|
0.00002
|
NM_001378454.1(ALMS1):c.6833A>G (p.Asn2278Ser)
|
rs767464740
|
0.00002
|
NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp)
|
rs776611154
|
0.00002
|
NM_001378454.1(ALMS1):c.7037G>A (p.Arg2346Lys)
|
rs765006341
|
0.00002
|
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val)
|
rs370830919
|
0.00002
|
NM_001378454.1(ALMS1):c.7287C>G (p.Asp2429Glu)
|
rs994637726
|
0.00002
|
NM_001378454.1(ALMS1):c.7328T>G (p.Leu2443Arg)
|
rs766944640
|
0.00002
|
NM_001378454.1(ALMS1):c.7493A>T (p.Glu2498Val)
|
rs1164499906
|
0.00002
|
NM_001378454.1(ALMS1):c.7912T>A (p.Ser2638Thr)
|
rs548882067
|
0.00002
|
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu)
|
rs996036496
|
0.00002
|
NM_001378454.1(ALMS1):c.8134A>G (p.Thr2712Ala)
|
rs765519997
|
0.00002
|
NM_001378454.1(ALMS1):c.8410C>T (p.Arg2804Cys)
|
rs746432199
|
0.00002
|
NM_001378454.1(ALMS1):c.8462A>G (p.His2821Arg)
|
rs1259827695
|
0.00002
|
NM_001378454.1(ALMS1):c.8626C>A (p.Leu2876Ile)
|
rs1447116062
|
0.00002
|
NM_001378454.1(ALMS1):c.8684G>A (p.Arg2895His)
|
rs755542969
|
0.00002
|
NM_001378454.1(ALMS1):c.8720C>G (p.Ser2907Cys)
|
rs747291259
|
0.00002
|
NM_001378454.1(ALMS1):c.872G>C (p.Ser291Thr)
|
rs568470985
|
0.00002
|
NM_001378454.1(ALMS1):c.874C>T (p.Arg292Cys)
|
rs757657988
|
0.00002
|
NM_001378454.1(ALMS1):c.8861A>G (p.Asp2954Gly)
|
rs751940353
|
0.00002
|
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu)
|
rs781477502
|
0.00002
|
NM_001378454.1(ALMS1):c.8926G>A (p.Val2976Ile)
|
rs1298787753
|
0.00002
|
NM_001378454.1(ALMS1):c.9026A>G (p.Asn3009Ser)
|
rs757198941
|
0.00002
|
NM_001378454.1(ALMS1):c.902T>C (p.Ile301Thr)
|
rs374259576
|
0.00002
|
NM_001378454.1(ALMS1):c.9055G>A (p.Val3019Met)
|
rs773897748
|
0.00002
|
NM_001378454.1(ALMS1):c.9178G>T (p.Asp3060Tyr)
|
rs547914710
|
0.00002
|
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu)
|
rs368970124
|
0.00002
|
NM_001378454.1(ALMS1):c.9722C>A (p.Pro3241His)
|
rs770579229
|
0.00002
|
NM_001378454.1(ALMS1):c.9772G>A (p.Gly3258Ser)
|
rs769100528
|
0.00002
|
NM_001378454.1(ALMS1):c.9828G>A (p.Met3276Ile)
|
rs551840069
|
0.00002
|
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser)
|
rs775666186
|
0.00002
|
NM_001378454.1(ALMS1):c.9995A>G (p.His3332Arg)
|
rs777406837
|
0.00002
|
NM_001378615.1(CC2D2A):c.1017C>T (p.Pro339=)
|
rs777522814
|
0.00002
|
NM_001378615.1(CC2D2A):c.1081C>T (p.Pro361Ser)
|
rs748850069
|
0.00002
|
NM_001378615.1(CC2D2A):c.1198C>G (p.Pro400Ala)
|
rs759074579
|
0.00002
|
NM_001378615.1(CC2D2A):c.1444A>G (p.Asn482Asp)
|
rs777022662
|
0.00002
|
NM_001378615.1(CC2D2A):c.152T>C (p.Val51Ala)
|
rs375163284
|
0.00002
|
NM_001378615.1(CC2D2A):c.166C>T (p.His56Tyr)
|
rs758324715
|
0.00002
|
NM_001378615.1(CC2D2A):c.1820T>C (p.Ile607Thr)
|
rs771221391
|
0.00002
|
NM_001378615.1(CC2D2A):c.1829C>T (p.Pro610Leu)
|
rs376457814
|
0.00002
|
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg)
|
rs1718235188
|
0.00002
|
NM_001378615.1(CC2D2A):c.2025G>C (p.Glu675Asp)
|
rs756383263
|
0.00002
|
NM_001378615.1(CC2D2A):c.245G>A (p.Arg82Gln)
|
rs527974001
|
0.00002
|
NM_001378615.1(CC2D2A):c.2593C>T (p.Pro865Ser)
|
rs1376846940
|
0.00002
|
NM_001378615.1(CC2D2A):c.2639G>A (p.Gly880Asp)
|
rs541135799
|
0.00002
|
NM_001378615.1(CC2D2A):c.2641G>C (p.Glu881Gln)
|
rs760405029
|
0.00002
|
NM_001378615.1(CC2D2A):c.2736G>C (p.Arg912Ser)
|
rs1471618183
|
0.00002
|
NM_001378615.1(CC2D2A):c.2842C>T (p.Arg948Trp)
|
rs563295435
|
0.00002
|
NM_001378615.1(CC2D2A):c.3082C>T (p.Arg1028Trp)
|
rs770004990
|
0.00002
|
NM_001378615.1(CC2D2A):c.3199T>C (p.Ser1067Pro)
|
rs781259863
|
0.00002
|
NM_001378615.1(CC2D2A):c.3230_3232dup (p.His1077_Ala1078insAsp)
|
rs756426571
|
0.00002
|
NM_001378615.1(CC2D2A):c.3256C>A (p.Pro1086Thr)
|
rs756918920
|
0.00002
|
NM_001378615.1(CC2D2A):c.3298C>T (p.Arg1100Cys)
|
rs767086890
|
0.00002
|
NM_001378615.1(CC2D2A):c.3374A>G (p.Asn1125Ser)
|
rs746358327
|
0.00002
|
NM_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr)
|
rs760918829
|
0.00002
|
NM_001378615.1(CC2D2A):c.3670C>T (p.Arg1224Trp)
|
rs369648324
|
0.00002
|
NM_001378615.1(CC2D2A):c.3773T>C (p.Phe1258Ser)
|
rs1485903880
|
0.00002
|
NM_001378615.1(CC2D2A):c.4022C>G (p.Thr1341Ser)
|
rs745599580
|
0.00002
|
NM_001378615.1(CC2D2A):c.4345C>G (p.Pro1449Ala)
|
rs375410796
|
0.00002
|
NM_001378615.1(CC2D2A):c.4635C>A (p.Asp1545Glu)
|
rs776642347
|
0.00002
|
NM_001378615.1(CC2D2A):c.4724T>C (p.Ile1575Thr)
|
rs551243983
|
0.00002
|
NM_001378615.1(CC2D2A):c.4838T>C (p.Val1613Ala)
|
rs769264337
|
0.00002
|
NM_001378615.1(CC2D2A):c.4850T>C (p.Ile1617Thr)
|
rs371868705
|
0.00002
|
NM_001378615.1(CC2D2A):c.566A>G (p.Glu189Gly)
|
rs762024789
|
0.00002
|
NM_001378615.1(CC2D2A):c.56A>T (p.Asp19Val)
|
rs1403239059
|
0.00002
|
NM_001378615.1(CC2D2A):c.778G>A (p.Val260Met)
|
rs918403472
|
0.00002
|
NM_001378615.1(CC2D2A):c.823A>G (p.Ile275Val)
|
rs368471984
|
0.00002
|
NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala)
|
rs533327313
|
0.00002
|
NM_001382391.1(CSPP1):c.1651G>A (p.Ala551Thr)
|
rs373749366
|
0.00002
|
NM_001382391.1(CSPP1):c.1684G>A (p.Ala562Thr)
|
rs781313362
|
0.00002
|
NM_001382391.1(CSPP1):c.1984A>G (p.Asn662Asp)
|
rs746165769
|
0.00002
|
NM_001382391.1(CSPP1):c.2314C>T (p.Arg772Trp)
|
rs369228037
|
0.00002
|
NM_001382391.1(CSPP1):c.2624T>C (p.Ile875Thr)
|
rs751572039
|
0.00002
|
NM_001382391.1(CSPP1):c.2762G>A (p.Arg921His)
|
rs376724794
|
0.00002
|
NM_001382391.1(CSPP1):c.2777G>A (p.Arg926His)
|
rs775629891
|
0.00002
|
NM_001382391.1(CSPP1):c.3139G>C (p.Val1047Leu)
|
rs755275549
|
0.00002
|
NM_001382391.1(CSPP1):c.3268C>T (p.Pro1090Ser)
|
rs200930857
|
0.00002
|
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp)
|
rs759630451
|
0.00002
|
NM_001382391.1(CSPP1):c.3424C>T (p.Arg1142Ter)
|
rs201261521
|
0.00002
|
NM_001382391.1(CSPP1):c.3638C>G (p.Pro1213Arg)
|
rs527426163
|
0.00002
|
NM_001382391.1(CSPP1):c.404G>A (p.Arg135His)
|
rs1386679081
|
0.00002
|
NM_001382391.1(CSPP1):c.683A>G (p.Asn228Ser)
|
rs765332591
|
0.00002
|
NM_001382391.1(CSPP1):c.729C>G (p.Asn243Lys)
|
rs749026327
|
0.00002
|
NM_001382391.1(CSPP1):c.799C>T (p.Arg267Cys)
|
rs114953032
|
0.00002
|
NM_001382391.1(CSPP1):c.800G>A (p.Arg267His)
|
rs781737308
|
0.00002
|
NM_001382391.1(CSPP1):c.821A>G (p.His274Arg)
|
rs377496424
|
0.00002
|
NM_001384732.1(CPLANE1):c.4892C>T (p.Ser1631Leu)
|
rs748759724
|
0.00002
|
NM_001481.3(GAS8):c.1051G>A (p.Ala351Thr)
|
rs948581380
|
0.00002
|
NM_001481.3(GAS8):c.1126G>A (p.Ala376Thr)
|
rs754597804
|
0.00002
|
NM_001481.3(GAS8):c.1235C>T (p.Ser412Leu)
|
rs548463078
|
0.00002
|
NM_001481.3(GAS8):c.1411G>A (p.Ala471Thr)
|
rs770183431
|
0.00002
|
NM_001481.3(GAS8):c.608G>A (p.Arg203Gln)
|
rs747875715
|
0.00002
|
NM_001481.3(GAS8):c.632T>C (p.Val211Ala)
|
rs764705666
|
0.00002
|
NM_001481.3(GAS8):c.649G>A (p.Gly217Ser)
|
rs780805985
|
0.00002
|
NM_001481.3(GAS8):c.838G>A (p.Ala280Thr)
|
rs150069321
|
0.00002
|
NM_003114.5(SPAG1):c.1730G>A (p.Arg577Gln)
|
rs774918839
|
0.00002
|
NM_003114.5(SPAG1):c.1837C>T (p.Arg613Cys)
|
rs201629491
|
0.00002
|
NM_003114.5(SPAG1):c.1936T>C (p.Tyr646His)
|
rs972610161
|
0.00002
|
NM_003114.5(SPAG1):c.1951A>C (p.Lys651Gln)
|
rs1004492870
|
0.00002
|
NM_003114.5(SPAG1):c.2473T>C (p.Cys825Arg)
|
rs1240396981
|
0.00002
|
NM_003114.5(SPAG1):c.2513C>T (p.Pro838Leu)
|
rs767575038
|
0.00002
|
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys)
|
rs758712291
|
0.00002
|
NM_003611.3(OFD1):c.1639A>G (p.Lys547Glu)
|
rs1054393663
|
0.00002
|
NM_003611.3(OFD1):c.1646C>T (p.Thr549Ile)
|
rs1275319013
|
0.00002
|
NM_003611.3(OFD1):c.195A>C (p.Glu65Asp)
|
rs1060500184
|
0.00002
|
NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu)
|
rs754615597
|
0.00002
|
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu)
|
rs746300545
|
0.00002
|
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)
|
rs1260959326
|
0.00002
|
NM_003611.3(OFD1):c.2197C>T (p.Arg733Cys)
|
rs1376239977
|
0.00002
|
NM_003611.3(OFD1):c.2258A>C (p.Glu753Ala)
|
rs1382696572
|
0.00002
|
NM_003611.3(OFD1):c.2788A>T (p.Ile930Leu)
|
rs745495276
|
0.00002
|
NM_003611.3(OFD1):c.2927A>C (p.Lys976Thr)
|
rs1458317780
|
0.00002
|
NM_003611.3(OFD1):c.3G>A (p.Met1Ile)
|
rs778840618
|
0.00002
|
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp)
|
rs776834508
|
0.00002
|
NM_003611.3(OFD1):c.656T>G (p.Leu219Trp)
|
rs780055525
|
0.00002
|
NM_003611.3(OFD1):c.710A>G (p.Lys237Arg)
|
rs1179498927
|
0.00002
|
NM_006642.5(SDCCAG8):c.1064C>A (p.Thr355Asn)
|
rs199524638
|
0.00002
|
NM_006642.5(SDCCAG8):c.1352C>T (p.Thr451Ile)
|
rs762653933
|
0.00002
|
NM_006642.5(SDCCAG8):c.14C>T (p.Pro5Leu)
|
rs747363592
|
0.00002
|
NM_006642.5(SDCCAG8):c.1643G>C (p.Ser548Thr)
|
rs775898129
|
0.00002
|
NM_006642.5(SDCCAG8):c.1963G>A (p.Val655Ile)
|
rs776040834
|
0.00002
|
NM_006642.5(SDCCAG8):c.661G>A (p.Glu221Lys)
|
rs373999051
|
0.00002
|
NM_006642.5(SDCCAG8):c.718G>A (p.Glu240Lys)
|
rs774139674
|
0.00002
|
NM_006642.5(SDCCAG8):c.918A>C (p.Glu306Asp)
|
rs770183847
|
0.00002
|
NM_012144.4(DNAI1):c.48+6G>C
|
rs962155265
|
0.00002
|
NM_012144.4(DNAI1):c.791G>A (p.Arg264Lys)
|
rs755853256
|
0.00002
|
NM_012210.4(TRIM32):c.1169G>A (p.Arg390His)
|
rs146094774
|
0.00002
|
NM_012210.4(TRIM32):c.1579G>A (p.Val527Ile)
|
rs368901621
|
0.00002
|
NM_012210.4(TRIM32):c.1838G>A (p.Arg613Gln)
|
rs199704873
|
0.00002
|
NM_012210.4(TRIM32):c.212C>T (p.Thr71Ile)
|
rs779530342
|
0.00002
|
NM_012210.4(TRIM32):c.314G>A (p.Arg105Gln)
|
rs949658602
|
0.00002
|
NM_012210.4(TRIM32):c.326G>A (p.Arg109Gln)
|
rs748324526
|
0.00002
|
NM_012210.4(TRIM32):c.374A>G (p.Glu125Gly)
|
rs758786326
|
0.00002
|
NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln)
|
rs552938001
|
0.00002
|
NM_012210.4(TRIM32):c.497G>A (p.Arg166Gln)
|
rs759945386
|
0.00002
|
NM_012210.4(TRIM32):c.712C>T (p.Arg238Cys)
|
rs769410403
|
0.00002
|
NM_012210.4(TRIM32):c.737T>C (p.Ile246Thr)
|
rs533236140
|
0.00002
|
NM_012210.4(TRIM32):c.86A>G (p.Glu29Gly)
|
rs757842932
|
0.00002
|
NM_012210.4(TRIM32):c.896G>A (p.Arg299Gln)
|
rs766439806
|
0.00002
|
NM_012210.4(TRIM32):c.907G>A (p.Val303Met)
|
rs144532174
|
0.00002
|
NM_012472.6(DNAAF11):c.1118A>G (p.His373Arg)
|
rs759547176
|
0.00002
|
NM_012472.6(DNAAF11):c.610G>A (p.Ala204Thr)
|
rs772453135
|
0.00002
|
NM_012472.6(DNAAF11):c.814C>T (p.Arg272Trp)
|
rs780609401
|
0.00002
|
NM_014704.4(CEP104):c.1485C>T (p.Ser495=)
|
rs371540690
|
0.00002
|
NM_014704.4(CEP104):c.719T>C (p.Ile240Thr)
|
rs752655065
|
0.00002
|
NM_014714.4(IFT140):c.1115A>G (p.Gln372Arg)
|
rs1555491988
|
0.00002
|
NM_014714.4(IFT140):c.1242C>G (p.His414Gln)
|
rs142143011
|
0.00002
|
NM_014714.4(IFT140):c.127G>A (p.Val43Met)
|
rs150649451
|
0.00002
|
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr)
|
rs373106880
|
0.00002
|
NM_014714.4(IFT140):c.1381G>A (p.Gly461Arg)
|
rs146049665
|
0.00002
|
NM_014714.4(IFT140):c.1999C>G (p.Gln667Glu)
|
rs753128503
|
0.00002
|
NM_014714.4(IFT140):c.2072A>T (p.Asp691Val)
|
rs763569081
|
0.00002
|
NM_014714.4(IFT140):c.2312C>T (p.Ala771Val)
|
rs764243187
|
0.00002
|
NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly)
|
rs758544371
|
0.00002
|
NM_014714.4(IFT140):c.2464G>A (p.Val822Met)
|
rs1157116921
|
0.00002
|
NM_014714.4(IFT140):c.2488G>A (p.Ala830Thr)
|
rs1438111084
|
0.00002
|
NM_014714.4(IFT140):c.2632T>A (p.Phe878Ile)
|
rs1396499118
|
0.00002
|
NM_014714.4(IFT140):c.2701C>T (p.Arg901Cys)
|
rs778004145
|
0.00002
|
NM_014714.4(IFT140):c.2702G>A (p.Arg901His)
|
rs374245105
|
0.00002
|
NM_014714.4(IFT140):c.2791C>T (p.Arg931Cys)
|
rs778436557
|
0.00002
|
NM_014714.4(IFT140):c.3061G>A (p.Glu1021Lys)
|
rs576458824
|
0.00002
|
NM_014714.4(IFT140):c.3092A>C (p.His1031Pro)
|
rs973440348
|
0.00002
|
NM_014714.4(IFT140):c.3137G>A (p.Cys1046Tyr)
|
rs752148006
|
0.00002
|
NM_014714.4(IFT140):c.3347A>G (p.Asp1116Gly)
|
rs768889794
|
0.00002
|
NM_014714.4(IFT140):c.3502G>A (p.Glu1168Lys)
|
rs780721001
|
0.00002
|
NM_014714.4(IFT140):c.3584T>C (p.Ile1195Thr)
|
rs753550166
|
0.00002
|
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu)
|
rs542803163
|
0.00002
|
NM_014714.4(IFT140):c.3625A>G (p.Thr1209Ala)
|
rs1464318641
|
0.00002
|
NM_014714.4(IFT140):c.3650A>G (p.Asn1217Ser)
|
rs368380437
|
0.00002
|
NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val)
|
rs369161842
|
0.00002
|
NM_014714.4(IFT140):c.3875T>C (p.Val1292Ala)
|
rs138311751
|
0.00002
|
NM_014714.4(IFT140):c.3925G>A (p.Glu1309Lys)
|
rs756142477
|
0.00002
|
NM_014714.4(IFT140):c.3995T>C (p.Leu1332Pro)
|
rs902428763
|
0.00002
|
NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met)
|
rs557586568
|
0.00002
|
NM_014714.4(IFT140):c.4181C>T (p.Thr1394Met)
|
rs771765849
|
0.00002
|
NM_014714.4(IFT140):c.4207C>T (p.Arg1403Trp)
|
rs772400580
|
0.00002
|
NM_014714.4(IFT140):c.4232T>G (p.Met1411Arg)
|
rs752233693
|
0.00002
|
NM_014714.4(IFT140):c.490G>A (p.Glu164Lys)
|
rs559314300
|
0.00002
|
NM_014714.4(IFT140):c.56C>T (p.Ser19Leu)
|
rs766380874
|
0.00002
|
NM_014714.4(IFT140):c.70C>T (p.His24Tyr)
|
rs939722027
|
0.00002
|
NM_014714.4(IFT140):c.773C>T (p.Thr258Met)
|
rs140020318
|
0.00002
|
NM_014714.4(IFT140):c.902+3G>A
|
rs776981733
|
0.00002
|
NM_014956.5(CEP164):c.1001C>G (p.Pro334Arg)
|
rs2042173742
|
0.00002
|
NM_014956.5(CEP164):c.1268T>C (p.Leu423Pro)
|
rs557486197
|
0.00002
|
NM_014956.5(CEP164):c.1336A>G (p.Ile446Val)
|
rs1213789533
|
0.00002
|
NM_014956.5(CEP164):c.1417C>T (p.Pro473Ser)
|
rs1481684034
|
0.00002
|
NM_014956.5(CEP164):c.1493C>T (p.Pro498Leu)
|
rs773140295
|
0.00002
|
NM_014956.5(CEP164):c.1700C>T (p.Pro567Leu)
|
rs1470761164
|
0.00002
|
NM_014956.5(CEP164):c.2362-14G>A
|
rs1035815151
|
0.00002
|
NM_014956.5(CEP164):c.2464T>G (p.Ser822Ala)
|
rs750842640
|
0.00002
|
NM_014956.5(CEP164):c.2494-3C>T
|
rs763312597
|
0.00002
|
NM_014956.5(CEP164):c.2726G>A (p.Arg909His)
|
rs530932318
|
0.00002
|
NM_014956.5(CEP164):c.2924C>T (p.Ala975Val)
|
rs778872289
|
0.00002
|
NM_014956.5(CEP164):c.3107C>T (p.Ala1036Val)
|
rs1264586687
|
0.00002
|
NM_014956.5(CEP164):c.3434C>T (p.Ala1145Val)
|
rs770370539
|
0.00002
|
NM_014956.5(CEP164):c.3482T>C (p.Met1161Thr)
|
rs375136293
|
0.00002
|
NM_014956.5(CEP164):c.3501+4A>G
|
rs1180692184
|
0.00002
|
NM_014956.5(CEP164):c.3519T>A (p.Asp1173Glu)
|
rs746686807
|
0.00002
|
NM_014956.5(CEP164):c.3609+3G>A
|
rs148009946
|
0.00002
|
NM_014956.5(CEP164):c.3989C>T (p.Thr1330Met)
|
rs774641136
|
0.00002
|
NM_014956.5(CEP164):c.4021G>C (p.Gly1341Arg)
|
rs781132728
|
0.00002
|
NM_014956.5(CEP164):c.4027A>G (p.Arg1343Gly)
|
rs748810265
|
0.00002
|
NM_014956.5(CEP164):c.491C>G (p.Ser164Cys)
|
rs149806421
|
0.00002
|
NM_014956.5(CEP164):c.907G>A (p.Gly303Arg)
|
rs1281252703
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1604G>A (p.Arg535His)
|
rs371028848
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala)
|
rs201131571
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1880A>C (p.Lys627Thr)
|
rs377035693
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1952T>C (p.Leu651Pro)
|
rs752598081
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2038C>T (p.Leu680Phe)
|
rs758370789
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2118A>C (p.Lys706Asn)
|
rs759934290
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2122G>A (p.Gly708Ser)
|
rs565152814
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2629A>G (p.Ile877Val)
|
rs779895977
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2677A>T (p.Ile893Phe)
|
rs748601161
|
0.00002
|
NM_015272.5(RPGRIP1L):c.281G>A (p.Arg94Gln)
|
rs549881475
|
0.00002
|
NM_015272.5(RPGRIP1L):c.302G>A (p.Arg101Gln)
|
rs146484603
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3206A>G (p.Asp1069Gly)
|
rs200726671
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3274A>G (p.Ile1092Val)
|
rs1965837844
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3335T>A (p.Ile1112Asn)
|
rs986384855
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3449G>A (p.Arg1150Gln)
|
rs376330325
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3625G>A (p.Val1209Met)
|
rs373993184
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His)
|
rs1410635948
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3835+3A>G
|
rs769218955
|
0.00002
|
NM_015272.5(RPGRIP1L):c.494A>G (p.Asn165Ser)
|
rs749282106
|
0.00002
|
NM_015272.5(RPGRIP1L):c.634G>C (p.Glu212Gln)
|
rs766043636
|
0.00002
|
NM_015272.5(RPGRIP1L):c.659G>A (p.Gly220Asp)
|
rs139259555
|
0.00002
|
NM_015272.5(RPGRIP1L):c.85G>A (p.Glu29Lys)
|
rs771740102
|
0.00002
|
NM_015512.5(DNAH1):c.1006A>G (p.Ile336Val)
|
rs747931853
|
0.00002
|
NM_015512.5(DNAH1):c.10279G>T (p.Ala3427Ser)
|
rs200093731
|
0.00002
|
NM_015512.5(DNAH1):c.10345G>A (p.Val3449Met)
|
rs757371106
|
0.00002
|
NM_015512.5(DNAH1):c.10733C>T (p.Ser3578Leu)
|
rs766811915
|
0.00002
|
NM_015512.5(DNAH1):c.1108A>G (p.Met370Val)
|
rs751414629
|
0.00002
|
NM_015512.5(DNAH1):c.112C>A (p.Pro38Thr)
|
rs759317020
|
0.00002
|
NM_015512.5(DNAH1):c.113C>T (p.Pro38Leu)
|
rs752563791
|
0.00002
|
NM_015512.5(DNAH1):c.11552G>A (p.Arg3851His)
|
rs757435709
|
0.00002
|
NM_015512.5(DNAH1):c.11787C>T (p.His3929=)
|
rs763327180
|
0.00002
|
NM_015512.5(DNAH1):c.12749G>A (p.Arg4250Gln)
|
rs539470500
|
0.00002
|
NM_015512.5(DNAH1):c.1469A>G (p.His490Arg)
|
rs1449951214
|
0.00002
|
NM_015512.5(DNAH1):c.1709G>A (p.Arg570His)
|
rs771126013
|
0.00002
|
NM_015512.5(DNAH1):c.1798A>G (p.Met600Val)
|
rs780334592
|
0.00002
|
NM_015512.5(DNAH1):c.1960C>T (p.Arg654Trp)
|
rs755225053
|
0.00002
|
NM_015512.5(DNAH1):c.2667G>A (p.Met889Ile)
|
rs1316549411
|
0.00002
|
NM_015512.5(DNAH1):c.3259C>T (p.Arg1087Cys)
|
rs540247484
|
0.00002
|
NM_015512.5(DNAH1):c.333G>A (p.Gly111=)
|
rs745428356
|
0.00002
|
NM_015512.5(DNAH1):c.3604G>A (p.Val1202Ile)
|
rs200103057
|
0.00002
|
NM_015512.5(DNAH1):c.377A>G (p.Gln126Arg)
|
rs1016034342
|
0.00002
|
NM_015512.5(DNAH1):c.3815G>A (p.Arg1272Gln)
|
rs748124296
|
0.00002
|
NM_015512.5(DNAH1):c.3833T>C (p.Met1278Thr)
|
rs764848129
|
0.00002
|
NM_015512.5(DNAH1):c.3858+5G>C
|
rs755582453
|
0.00002
|
NM_015512.5(DNAH1):c.4022C>T (p.Ser1341Leu)
|
rs374727086
|
0.00002
|
NM_015512.5(DNAH1):c.4231G>A (p.Asp1411Asn)
|
rs373438684
|
0.00002
|
NM_015512.5(DNAH1):c.4603C>T (p.Arg1535Cys)
|
rs775222435
|
0.00002
|
NM_015512.5(DNAH1):c.479T>C (p.Leu160Pro)
|
rs1018979330
|
0.00002
|
NM_015512.5(DNAH1):c.5105G>A (p.Arg1702Gln)
|
rs753810465
|
0.00002
|
NM_015512.5(DNAH1):c.5794C>T (p.Arg1932Trp)
|
rs770638269
|
0.00002
|
NM_015512.5(DNAH1):c.6005G>A (p.Arg2002His)
|
rs747073645
|
0.00002
|
NM_015512.5(DNAH1):c.6739C>G (p.Leu2247Val)
|
rs763045954
|
0.00002
|
NM_015512.5(DNAH1):c.6982A>G (p.Ile2328Val)
|
rs377326562
|
0.00002
|
NM_015512.5(DNAH1):c.7187G>A (p.Arg2396Gln)
|
rs200988349
|
0.00002
|
NM_015512.5(DNAH1):c.7261G>A (p.Ala2421Thr)
|
rs763046158
|
0.00002
|
NM_015512.5(DNAH1):c.7759G>A (p.Val2587Met)
|
rs747611842
|
0.00002
|
NM_015512.5(DNAH1):c.8402A>G (p.Tyr2801Cys)
|
rs367709805
|
0.00002
|
NM_015512.5(DNAH1):c.9124G>A (p.Ala3042Thr)
|
rs759706633
|
0.00002
|
NM_015631.6(TCTN3):c.1059C>T (p.Gly353=)
|
rs750698768
|
0.00002
|
NM_015631.6(TCTN3):c.1060G>A (p.Ala354Thr)
|
rs765375312
|
0.00002
|
NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys)
|
rs777277759
|
0.00002
|
NM_015631.6(TCTN3):c.11C>T (p.Pro4Leu)
|
rs1399269953
|
0.00002
|
NM_015631.6(TCTN3):c.1396G>C (p.Asp466His)
|
rs754607949
|
0.00002
|
NM_015631.6(TCTN3):c.1421C>A (p.Thr474Asn)
|
rs1190331074
|
0.00002
|
NM_015631.6(TCTN3):c.1606A>G (p.Thr536Ala)
|
rs1290852650
|
0.00002
|
NM_015631.6(TCTN3):c.16C>G (p.Leu6Val)
|
rs759598264
|
0.00002
|
NM_015631.6(TCTN3):c.499+5G>T
|
rs1242330719
|
0.00002
|
NM_015631.6(TCTN3):c.628G>T (p.Ala210Ser)
|
rs541135431
|
0.00002
|
NM_015631.6(TCTN3):c.957T>G (p.Asn319Lys)
|
rs1176554738
|
0.00002
|
NM_015662.3(IFT172):c.1005+10A>T
|
rs771534291
|
0.00002
|
NM_015662.3(IFT172):c.1009A>G (p.Ile337Val)
|
rs774559020
|
0.00002
|
NM_015662.3(IFT172):c.1238A>G (p.Asn413Ser)
|
rs962054597
|
0.00002
|
NM_015662.3(IFT172):c.1243G>A (p.Gly415Arg)
|
rs746834072
|
0.00002
|
NM_015662.3(IFT172):c.135A>T (p.Glu45Asp)
|
rs1350745027
|
0.00002
|
NM_015662.3(IFT172):c.1367A>T (p.Asn456Ile)
|
rs528303561
|
0.00002
|
NM_015662.3(IFT172):c.1414G>A (p.Asp472Asn)
|
rs747544155
|
0.00002
|
NM_015662.3(IFT172):c.1655T>C (p.Ile552Thr)
|
rs369863525
|
0.00002
|
NM_015662.3(IFT172):c.1768T>C (p.Tyr590His)
|
rs1667049048
|
0.00002
|
NM_015662.3(IFT172):c.1973G>A (p.Arg658Gln)
|
rs376890875
|
0.00002
|
NM_015662.3(IFT172):c.1997T>C (p.Ile666Thr)
|
rs777173046
|
0.00002
|
NM_015662.3(IFT172):c.2026G>A (p.Gly676Arg)
|
rs761290683
|
0.00002
|
NM_015662.3(IFT172):c.2176G>A (p.Ala726Thr)
|
rs188779949
|
0.00002
|
NM_015662.3(IFT172):c.2204C>A (p.Ala735Asp)
|
rs773174861
|
0.00002
|
NM_015662.3(IFT172):c.2437G>A (p.Glu813Lys)
|
rs1036729851
|
0.00002
|
NM_015662.3(IFT172):c.2578T>C (p.Trp860Arg)
|
rs748125718
|
0.00002
|
NM_015662.3(IFT172):c.2722C>T (p.Arg908Trp)
|
rs745644146
|
0.00002
|
NM_015662.3(IFT172):c.3053G>A (p.Arg1018His)
|
rs375879787
|
0.00002
|
NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala)
|
rs138139922
|
0.00002
|
NM_015662.3(IFT172):c.3197G>A (p.Arg1066Gln)
|
rs759282959
|
0.00002
|
NM_015662.3(IFT172):c.328A>T (p.Ile110Phe)
|
rs747883999
|
0.00002
|
NM_015662.3(IFT172):c.3739C>T (p.Arg1247Cys)
|
rs375755957
|
0.00002
|
NM_015662.3(IFT172):c.3989G>A (p.Arg1330His)
|
rs202236985
|
0.00002
|
NM_015662.3(IFT172):c.403-16A>G
|
rs367657817
|
0.00002
|
NM_015662.3(IFT172):c.406C>T (p.Arg136Cys)
|
rs753783467
|
0.00002
|
NM_015662.3(IFT172):c.4108G>A (p.Glu1370Lys)
|
rs779981992
|
0.00002
|
NM_015662.3(IFT172):c.412G>A (p.Ala138Thr)
|
rs1461000488
|
0.00002
|
NM_015662.3(IFT172):c.4136G>A (p.Arg1379His)
|
rs772212247
|
0.00002
|
NM_015662.3(IFT172):c.4364G>A (p.Arg1455Gln)
|
rs747215055
|
0.00002
|
NM_015662.3(IFT172):c.4484A>G (p.Asn1495Ser)
|
rs760535770
|
0.00002
|
NM_015662.3(IFT172):c.4489G>A (p.Ala1497Thr)
|
rs759653536
|
0.00002
|
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr)
|
rs770733075
|
0.00002
|
NM_015662.3(IFT172):c.4627A>G (p.Thr1543Ala)
|
rs769170592
|
0.00002
|
NM_015662.3(IFT172):c.4793A>G (p.Asn1598Ser)
|
rs755477787
|
0.00002
|
NM_015662.3(IFT172):c.4813G>A (p.Asp1605Asn)
|
rs755717990
|
0.00002
|
NM_015662.3(IFT172):c.5024T>C (p.Val1675Ala)
|
rs774361785
|
0.00002
|
NM_015662.3(IFT172):c.5029G>T (p.Ala1677Ser)
|
rs766918099
|
0.00002
|
NM_015662.3(IFT172):c.5033G>A (p.Ser1678Asn)
|
rs972056548
|
0.00002
|
NM_015662.3(IFT172):c.5068G>C (p.Gly1690Arg)
|
rs200049734
|
0.00002
|
NM_015662.3(IFT172):c.529G>A (p.Val177Ile)
|
rs754880269
|
0.00002
|
NM_015662.3(IFT172):c.650G>A (p.Arg217Gln)
|
rs777862424
|
0.00002
|
NM_015662.3(IFT172):c.673G>C (p.Glu225Gln)
|
rs767999703
|
0.00002
|
NM_015662.3(IFT172):c.721C>T (p.Arg241Trp)
|
rs772012378
|
0.00002
|
NM_015681.6(B9D1):c.256G>A (p.Val86Met)
|
rs776537604
|
0.00002
|
NM_015681.6(B9D1):c.380C>T (p.Thr127Met)
|
rs779138882
|
0.00002
|
NM_015681.6(B9D1):c.427G>A (p.Glu143Lys)
|
rs1490515097
|
0.00002
|
NM_015896.4(ZMYND10):c.235G>A (p.Glu79Lys)
|
rs760700286
|
0.00002
|
NM_015896.4(ZMYND10):c.428G>A (p.Arg143His)
|
rs747944767
|
0.00002
|
NM_015896.4(ZMYND10):c.601C>T (p.Leu201Phe)
|
rs770913452
|
0.00002
|
NM_015896.4(ZMYND10):c.625A>G (p.Met209Val)
|
rs781368194
|
0.00002
|
NM_015896.4(ZMYND10):c.652C>G (p.Leu218Val)
|
rs1192317553
|
0.00002
|
NM_015896.4(ZMYND10):c.794C>T (p.Ala265Val)
|
rs149071790
|
0.00002
|
NM_015910.7(WDPCP):c.1379A>T (p.Asp460Val)
|
rs367834809
|
0.00002
|
NM_015910.7(WDPCP):c.1436-4A>G
|
rs773663574
|
0.00002
|
NM_015910.7(WDPCP):c.151C>T (p.His51Tyr)
|
rs779689937
|
0.00002
|
NM_015910.7(WDPCP):c.1784T>A (p.Val595Asp)
|
rs761696659
|
0.00002
|
NM_015910.7(WDPCP):c.1916-4A>G
|
rs764595056
|
0.00002
|
NM_015910.7(WDPCP):c.2003C>T (p.Pro668Leu)
|
rs757409957
|
0.00002
|
NM_015910.7(WDPCP):c.208+6G>T
|
rs775227440
|
0.00002
|
NM_015910.7(WDPCP):c.2210C>A (p.Ser737Tyr)
|
rs746369214
|
0.00002
|
NM_015910.7(WDPCP):c.333G>A (p.Met111Ile)
|
rs778069760
|
0.00002
|
NM_015910.7(WDPCP):c.334C>G (p.Gln112Glu)
|
rs758543575
|
0.00002
|
NM_015910.7(WDPCP):c.685C>G (p.Leu229Val)
|
rs762453550
|
0.00002
|
NM_016464.5(TMEM138):c.136G>C (p.Asp46His)
|
rs375503806
|
0.00002
|
NM_016464.5(TMEM138):c.307C>T (p.Arg103Cys)
|
rs202210746
|
0.00002
|
NM_016616.5(NME8):c.1277T>A (p.Leu426Ter)
|
rs121918300
|
0.00002
|
NM_016616.5(NME8):c.1459T>A (p.Phe487Ile)
|
rs755043696
|
0.00002
|
NM_016616.5(NME8):c.1666T>A (p.Phe556Ile)
|
rs757432890
|
0.00002
|
NM_016616.5(NME8):c.1684A>G (p.Lys562Glu)
|
rs370146151
|
0.00002
|
NM_016616.5(NME8):c.401C>T (p.Pro134Leu)
|
rs369201077
|
0.00002
|
NM_016616.5(NME8):c.989G>A (p.Arg330Lys)
|
rs758607187
|
0.00002
|
NM_017777.4(MKS1):c.1095G>C (p.Met365Ile)
|
rs1440032995
|
0.00002
|
NM_017777.4(MKS1):c.1316T>C (p.Leu439Pro)
|
rs1325790652
|
0.00002
|
NM_017777.4(MKS1):c.1477C>A (p.Leu493Met)
|
rs761944624
|
0.00002
|
NM_017777.4(MKS1):c.1592C>A (p.Ala531Asp)
|
rs751294519
|
0.00002
|
NM_017777.4(MKS1):c.1606C>T (p.Arg536Trp)
|
rs768171144
|
0.00002
|
NM_017777.4(MKS1):c.1613G>A (p.Arg538His)
|
rs557678962
|
0.00002
|
NM_017777.4(MKS1):c.1678T>C (p.Ter560Gln)
|
rs1286667377
|
0.00002
|
NM_017777.4(MKS1):c.428G>T (p.Arg143Ile)
|
rs758424317
|
0.00002
|
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)
|
rs779953982
|
0.00002
|
NM_017777.4(MKS1):c.494G>A (p.Arg165His)
|
rs771709346
|
0.00002
|
NM_017777.4(MKS1):c.538C>T (p.Arg180Cys)
|
rs559966703
|
0.00002
|
NM_017777.4(MKS1):c.841C>T (p.Arg281Trp)
|
rs780007842
|
0.00002
|
NM_017802.4(DNAAF5):c.1177C>T (p.His393Tyr)
|
rs768907625
|
0.00002
|
NM_017802.4(DNAAF5):c.1195G>A (p.Glu399Lys)
|
rs752282523
|
0.00002
|
NM_017802.4(DNAAF5):c.1231G>A (p.Asp411Asn)
|
rs748404959
|
0.00002
|
NM_017802.4(DNAAF5):c.1739A>G (p.His580Arg)
|
rs762336859
|
0.00002
|
NM_017802.4(DNAAF5):c.2263G>A (p.Val755Met)
|
rs777468194
|
0.00002
|
NM_017802.4(DNAAF5):c.2507G>A (p.Arg836His)
|
rs760802184
|
0.00002
|
NM_017802.4(DNAAF5):c.289G>A (p.Val97Met)
|
rs1039028606
|
0.00002
|
NM_017802.4(DNAAF5):c.515G>A (p.Arg172His)
|
rs1337262848
|
0.00002
|
NM_017950.4(CCDC40):c.1200T>A (p.His400Gln)
|
rs773046353
|
0.00002
|
NM_017950.4(CCDC40):c.1280C>T (p.Thr427Met)
|
rs370720427
|
0.00002
|
NM_017950.4(CCDC40):c.1409A>G (p.Asp470Gly)
|
rs754833822
|
0.00002
|
NM_017950.4(CCDC40):c.1415G>A (p.Arg472Gln)
|
rs780647441
|
0.00002
|
NM_017950.4(CCDC40):c.1564G>A (p.Gly522Arg)
|
rs764252103
|
0.00002
|
NM_017950.4(CCDC40):c.2116A>G (p.Asn706Asp)
|
rs770751519
|
0.00002
|
NM_017950.4(CCDC40):c.2192A>G (p.Asn731Ser)
|
rs376612893
|
0.00002
|
NM_017950.4(CCDC40):c.2309C>T (p.Ala770Val)
|
rs749795585
|
0.00002
|
NM_017950.4(CCDC40):c.2551C>T (p.Arg851Trp)
|
rs774273644
|
0.00002
|
NM_017950.4(CCDC40):c.2612C>T (p.Ser871Leu)
|
rs367596393
|
0.00002
|
NM_017950.4(CCDC40):c.2652C>G (p.Asp884Glu)
|
rs368398257
|
0.00002
|
NM_017950.4(CCDC40):c.2962C>T (p.Arg988Cys)
|
rs757374609
|
0.00002
|
NM_017950.4(CCDC40):c.553-3T>C
|
rs779799024
|
0.00002
|
NM_017950.4(CCDC40):c.592A>G (p.Met198Val)
|
rs774843139
|
0.00002
|
NM_017950.4(CCDC40):c.655G>A (p.Glu219Lys)
|
rs1277342777
|
0.00002
|
NM_017950.4(CCDC40):c.929T>A (p.Leu310His)
|
rs1209777694
|
0.00002
|
NM_017950.4(CCDC40):c.962G>A (p.Arg321Gln)
|
rs114740534
|
0.00002
|
NM_018051.5(DYNC2I1):c.2660A>G (p.His887Arg)
|
rs746483898
|
0.00002
|
NM_018051.5(DYNC2I1):c.2933A>G (p.Asn978Ser)
|
rs780146826
|
0.00002
|
NM_018051.5(DYNC2I1):c.573+6C>T
|
rs913915593
|
0.00002
|
NM_018076.5(ODAD2):c.1102G>C (p.Glu368Gln)
|
rs775228185
|
0.00002
|
NM_018076.5(ODAD2):c.1607G>A (p.Gly536Asp)
|
rs1393513509
|
0.00002
|
NM_018076.5(ODAD2):c.1708C>T (p.Arg570Trp)
|
rs751718086
|
0.00002
|
NM_018076.5(ODAD2):c.184A>G (p.Ser62Gly)
|
rs764481366
|
0.00002
|
NM_018076.5(ODAD2):c.1866T>A (p.His622Gln)
|
rs761181016
|
0.00002
|
NM_018076.5(ODAD2):c.1868C>T (p.Thr623Met)
|
rs375702916
|
0.00002
|
NM_018076.5(ODAD2):c.2191C>T (p.Arg731Trp)
|
rs772563349
|
0.00002
|
NM_018076.5(ODAD2):c.2617G>A (p.Gly873Arg)
|
rs765428794
|
0.00002
|
NM_018076.5(ODAD2):c.379G>A (p.Glu127Lys)
|
rs1413564498
|
0.00002
|
NM_018076.5(ODAD2):c.521T>C (p.Leu174Pro)
|
rs767173014
|
0.00002
|
NM_018076.5(ODAD2):c.844G>A (p.Val282Ile)
|
rs191594899
|
0.00002
|
NM_018139.3(DNAAF2):c.1072G>A (p.Ala358Thr)
|
rs1060503179
|
0.00002
|
NM_018139.3(DNAAF2):c.118G>T (p.Ala40Ser)
|
rs765847926
|
0.00002
|
NM_018139.3(DNAAF2):c.1228T>C (p.Ser410Pro)
|
rs746189091
|
0.00002
|
NM_018139.3(DNAAF2):c.1415C>T (p.Ser472Phe)
|
rs760270240
|
0.00002
|
NM_018139.3(DNAAF2):c.1624C>T (p.Arg542Trp)
|
rs201615253
|
0.00002
|
NM_018139.3(DNAAF2):c.374T>C (p.Leu125Pro)
|
rs771875922
|
0.00002
|
NM_018139.3(DNAAF2):c.404G>A (p.Ser135Asn)
|
rs759580456
|
0.00002
|
NM_018139.3(DNAAF2):c.424T>C (p.Tyr142His)
|
rs541765275
|
0.00002
|
NM_018139.3(DNAAF2):c.530G>C (p.Gly177Ala)
|
rs372399039
|
0.00002
|
NM_018139.3(DNAAF2):c.779G>T (p.Arg260Leu)
|
rs763643131
|
0.00002
|
NM_018139.3(DNAAF2):c.950G>A (p.Arg317Gln)
|
rs374063062
|
0.00002
|
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)
|
rs782371437
|
0.00002
|
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr)
|
rs201490201
|
0.00002
|
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter)
|
rs139909606
|
0.00002
|
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr)
|
rs200516165
|
0.00002
|
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser)
|
rs781914996
|
0.00002
|
NM_018718.3(CEP41):c.589A>T (p.Ile197Phe)
|
rs782265732
|
0.00002
|
NM_018718.3(CEP41):c.653A>C (p.His218Pro)
|
rs527896814
|
0.00002
|
NM_018718.3(CEP41):c.664A>G (p.Ile222Val)
|
rs560824415
|
0.00002
|
NM_018718.3(CEP41):c.781T>C (p.Phe261Leu)
|
rs782241458
|
0.00002
|
NM_018718.3(CEP41):c.812C>T (p.Pro271Leu)
|
rs782704918
|
0.00002
|
NM_019892.6(INPP5E):c.1108G>A (p.Val370Met)
|
rs147531141
|
0.00002
|
NM_019892.6(INPP5E):c.1298C>T (p.Ala433Val)
|
rs1022640639
|
0.00002
|
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile)
|
rs750331066
|
0.00002
|
NM_019892.6(INPP5E):c.1403G>A (p.Arg468His)
|
rs112089228
|
0.00002
|
NM_019892.6(INPP5E):c.1441C>T (p.Arg481Cys)
|
rs761179746
|
0.00002
|
NM_019892.6(INPP5E):c.1465G>A (p.Val489Met)
|
rs781083748
|
0.00002
|
NM_019892.6(INPP5E):c.1535G>A (p.Arg512Gln)
|
rs750777734
|
0.00002
|
NM_019892.6(INPP5E):c.1544G>A (p.Arg515Gln)
|
rs752106876
|
0.00002
|
NM_019892.6(INPP5E):c.161C>T (p.Thr54Ile)
|
rs1234082483
|
0.00002
|
NM_019892.6(INPP5E):c.1666-12A>G
|
rs372545147
|
0.00002
|
NM_019892.6(INPP5E):c.1732G>A (p.Gly578Arg)
|
rs559636009
|
0.00002
|
NM_019892.6(INPP5E):c.1742C>T (p.Thr581Met)
|
rs943471686
|
0.00002
|
NM_019892.6(INPP5E):c.1868C>T (p.Ser623Leu)
|
rs754887212
|
0.00002
|
NM_019892.6(INPP5E):c.18G>C (p.Glu6Asp)
|
rs1461388293
|
0.00002
|
NM_019892.6(INPP5E):c.676C>T (p.Leu226Phe)
|
rs761485683
|
0.00002
|
NM_019892.6(INPP5E):c.958G>A (p.Glu320Lys)
|
rs1254993477
|
0.00002
|
NM_019892.6(INPP5E):c.982G>A (p.Asp328Asn)
|
rs201857820
|
0.00002
|
NM_020779.4(WDR35):c.1435A>G (p.Met479Val)
|
rs797046099
|
0.00002
|
NM_020779.4(WDR35):c.1798A>G (p.Met600Val)
|
rs751974091
|
0.00002
|
NM_020779.4(WDR35):c.1972C>T (p.Arg658Trp)
|
rs754056303
|
0.00002
|
NM_020779.4(WDR35):c.2030A>G (p.Gln677Arg)
|
rs771708013
|
0.00002
|
NM_020779.4(WDR35):c.2726A>G (p.Tyr909Cys)
|
rs369793891
|
0.00002
|
NM_020779.4(WDR35):c.287T>C (p.Ile96Thr)
|
rs1388421523
|
0.00002
|
NM_020779.4(WDR35):c.3254C>A (p.Thr1085Asn)
|
rs190070503
|
0.00002
|
NM_020779.4(WDR35):c.670T>C (p.Cys224Arg)
|
rs757871845
|
0.00002
|
NM_020779.4(WDR35):c.764A>G (p.Tyr255Cys)
|
rs1228498799
|
0.00002
|
NM_020800.3(IFT80):c.1069G>A (p.Val357Met)
|
rs530805244
|
0.00002
|
NM_020800.3(IFT80):c.1079C>T (p.Thr360Met)
|
rs371152741
|
0.00002
|
NM_020800.3(IFT80):c.1315A>G (p.Ile439Val)
|
rs750652226
|
0.00002
|
NM_020800.3(IFT80):c.1910A>G (p.Tyr637Cys)
|
rs949267903
|
0.00002
|
NM_020800.3(IFT80):c.2225T>A (p.Leu742His)
|
rs763284318
|
0.00002
|
NM_020800.3(IFT80):c.286G>A (p.Gly96Arg)
|
rs760332663
|
0.00002
|
NM_020800.3(IFT80):c.371T>C (p.Val124Ala)
|
rs775678547
|
0.00002
|
NM_020800.3(IFT80):c.377A>C (p.Glu126Ala)
|
rs574860967
|
0.00002
|
NM_020800.3(IFT80):c.938C>T (p.Thr313Met)
|
rs753478409
|
0.00002
|
NM_020800.3(IFT80):c.954G>A (p.Met318Ile)
|
rs957922344
|
0.00002
|
NM_021147.5(CCNO):c.265C>G (p.Pro89Ala)
|
rs764171316
|
0.00002
|
NM_021147.5(CCNO):c.281A>G (p.Asp94Gly)
|
rs892790252
|
0.00002
|
NM_021147.5(CCNO):c.785C>T (p.Ala262Val)
|
rs150766906
|
0.00002
|
NM_021147.5(CCNO):c.945C>G (p.Asp315Glu)
|
rs1240396964
|
0.00002
|
NM_023036.6(DNAI2):c.1105G>A (p.Ala369Thr)
|
rs1263482357
|
0.00002
|
NM_023036.6(DNAI2):c.409G>A (p.Glu137Lys)
|
rs112650114
|
0.00002
|
NM_023036.6(DNAI2):c.566G>A (p.Arg189Gln)
|
rs552610697
|
0.00002
|
NM_023036.6(DNAI2):c.788G>A (p.Arg263Gln)
|
rs768312326
|
0.00002
|
NM_023036.6(DNAI2):c.85A>G (p.Ile29Val)
|
rs747104814
|
0.00002
|
NM_023036.6(DNAI2):c.922A>G (p.Ile308Val)
|
rs374277039
|
0.00002
|
NM_024649.5(BBS1):c.1110+329C>T
|
rs571170303
|
0.00002
|
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)
|
rs758139447
|
0.00002
|
NM_024649.5(BBS1):c.1175C>A (p.Thr392Asn)
|
rs775513593
|
0.00002
|
NM_024649.5(BBS1):c.1295G>A (p.Arg432Gln)
|
rs138491266
|
0.00002
|
NM_024649.5(BBS1):c.1346A>T (p.His449Leu)
|
rs777746992
|
0.00002
|
NM_024649.5(BBS1):c.1474G>T (p.Val492Phe)
|
rs747604822
|
0.00002
|
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala)
|
rs1316472200
|
0.00002
|
NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys)
|
rs184614863
|
0.00002
|
NM_024649.5(BBS1):c.1684G>T (p.Asp562Tyr)
|
rs768098877
|
0.00002
|
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg)
|
rs1355873337
|
0.00002
|
NM_024649.5(BBS1):c.357A>T (p.Arg119Ser)
|
rs190513580
|
0.00002
|
NM_024649.5(BBS1):c.43G>A (p.Glu15Lys)
|
rs761601575
|
0.00002
|
NM_024649.5(BBS1):c.518+5G>A
|
rs1428618323
|
0.00002
|
NM_024649.5(BBS1):c.725T>C (p.Met242Thr)
|
rs771506842
|
0.00002
|
NM_024649.5(BBS1):c.808G>A (p.Gly270Arg)
|
rs754465006
|
0.00002
|
NM_024649.5(BBS1):c.877G>A (p.Val293Met)
|
rs769422545
|
0.00002
|
NM_024685.4(BBS10):c.1034T>C (p.Ile345Thr)
|
rs761897354
|
0.00002
|
NM_024685.4(BBS10):c.1232A>G (p.Glu411Gly)
|
rs760904517
|
0.00002
|
NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser)
|
rs770239827
|
0.00002
|
NM_024685.4(BBS10):c.1607A>G (p.Tyr536Cys)
|
rs765785183
|
0.00002
|
NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr)
|
rs373626588
|
0.00002
|
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu)
|
rs762432475
|
0.00002
|
NM_024685.4(BBS10):c.1936A>G (p.Lys646Glu)
|
rs757995171
|
0.00002
|
NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro)
|
rs759387000
|
0.00002
|
NM_024753.5(TTC21B):c.1357A>G (p.Met453Val)
|
rs754773733
|
0.00002
|
NM_024753.5(TTC21B):c.151+4C>T
|
rs370743264
|
0.00002
|
NM_024753.5(TTC21B):c.1516+6G>A
|
rs374229097
|
0.00002
|
NM_024753.5(TTC21B):c.152G>A (p.Gly51Asp)
|
rs768073526
|
0.00002
|
NM_024753.5(TTC21B):c.1747A>G (p.Ile583Val)
|
rs745801155
|
0.00002
|
NM_024753.5(TTC21B):c.1757T>C (p.Leu586Pro)
|
rs757261493
|
0.00002
|
NM_024753.5(TTC21B):c.1760A>G (p.His587Arg)
|
rs372066887
|
0.00002
|
NM_024753.5(TTC21B):c.176A>C (p.Glu59Ala)
|
rs769276420
|
0.00002
|
NM_024753.5(TTC21B):c.1853C>T (p.Ser618Leu)
|
rs749287796
|
0.00002
|
NM_024753.5(TTC21B):c.2170T>A (p.Ser724Thr)
|
rs759317777
|
0.00002
|
NM_024753.5(TTC21B):c.2365A>G (p.Asn789Asp)
|
rs774676050
|
0.00002
|
NM_024753.5(TTC21B):c.2495G>A (p.Arg832His)
|
rs145412117
|
0.00002
|
NM_024753.5(TTC21B):c.2903A>G (p.Tyr968Cys)
|
rs574803644
|
0.00002
|
NM_024753.5(TTC21B):c.307C>T (p.Arg103Cys)
|
rs760729865
|
0.00002
|
NM_024753.5(TTC21B):c.3102-4C>G
|
rs750756355
|
0.00002
|
NM_024753.5(TTC21B):c.3406A>G (p.Lys1136Glu)
|
rs371863532
|
0.00002
|
NM_024753.5(TTC21B):c.3476C>T (p.Ala1159Val)
|
rs367564721
|
0.00002
|
NM_024753.5(TTC21B):c.3493A>G (p.Thr1165Ala)
|
rs762419505
|
0.00002
|
NM_024753.5(TTC21B):c.3572T>C (p.Ile1191Thr)
|
rs776721597
|
0.00002
|
NM_024753.5(TTC21B):c.3617T>C (p.Ile1206Thr)
|
rs374240595
|
0.00002
|
NM_024753.5(TTC21B):c.3623T>G (p.Ile1208Ser)
|
rs189519760
|
0.00002
|
NM_024753.5(TTC21B):c.557A>G (p.Gln186Arg)
|
rs938051900
|
0.00002
|
NM_024753.5(TTC21B):c.711G>T (p.Arg237Ser)
|
rs764523560
|
0.00002
|
NM_024753.5(TTC21B):c.764A>G (p.Tyr255Cys)
|
rs377061787
|
0.00002
|
NM_024753.5(TTC21B):c.866A>G (p.Tyr289Cys)
|
rs1372232699
|
0.00002
|
NM_024809.5(TCTN2):c.1612+3A>G
|
rs918049258
|
0.00002
|
NM_024809.5(TCTN2):c.1612C>T (p.Arg538Cys)
|
rs561214391
|
0.00002
|
NM_024809.5(TCTN2):c.1813G>A (p.Glu605Lys)
|
rs768079186
|
0.00002
|
NM_024809.5(TCTN2):c.1818C>G (p.His606Gln)
|
rs778418417
|
0.00002
|
NM_024809.5(TCTN2):c.1967G>C (p.Trp656Ser)
|
rs200159224
|
0.00002
|
NM_024809.5(TCTN2):c.305T>C (p.Leu102Pro)
|
rs779547974
|
0.00002
|
NM_024809.5(TCTN2):c.349C>T (p.Pro117Ser)
|
rs148783076
|
0.00002
|
NM_024809.5(TCTN2):c.523T>G (p.Leu175Val)
|
rs768824874
|
0.00002
|
NM_024809.5(TCTN2):c.548G>A (p.Arg183His)
|
rs369164141
|
0.00002
|
NM_025114.4(CEP290):c.1094A>C (p.Lys365Thr)
|
rs1250515491
|
0.00002
|
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)
|
rs189280108
|
0.00002
|
NM_025114.4(CEP290):c.1288G>C (p.Ala430Pro)
|
rs767366207
|
0.00002
|
NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile)
|
rs373303674
|
0.00002
|
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser)
|
rs1331263277
|
0.00002
|
NM_025114.4(CEP290):c.1677G>C (p.Met559Ile)
|
rs1000099371
|
0.00002
|
NM_025114.4(CEP290):c.1756G>A (p.Gly586Arg)
|
rs759047003
|
0.00002
|
NM_025114.4(CEP290):c.2060A>T (p.Glu687Val)
|
rs932362741
|
0.00002
|
NM_025114.4(CEP290):c.2167C>T (p.Arg723Trp)
|
rs372963403
|
0.00002
|
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala)
|
rs369868981
|
0.00002
|
NM_025114.4(CEP290):c.3124A>G (p.Lys1042Glu)
|
rs1468626083
|
0.00002
|
NM_025114.4(CEP290):c.3238T>G (p.Tyr1080Asp)
|
rs750466529
|
0.00002
|
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln)
|
rs774900495
|
0.00002
|
NM_025114.4(CEP290):c.3428A>G (p.Lys1143Arg)
|
rs772550529
|
0.00002
|
NM_025114.4(CEP290):c.4030-14A>G
|
rs910563325
|
0.00002
|
NM_025114.4(CEP290):c.4156A>G (p.Ile1386Val)
|
rs1427374639
|
0.00002
|
NM_025114.4(CEP290):c.4268G>A (p.Arg1423His)
|
rs774025278
|
0.00002
|
NM_025114.4(CEP290):c.4292C>T (p.Ala1431Val)
|
rs564214956
|
0.00002
|
NM_025114.4(CEP290):c.4391T>C (p.Ile1464Thr)
|
rs761761702
|
0.00002
|
NM_025114.4(CEP290):c.4394G>A (p.Arg1465Gln)
|
rs576877716
|
0.00002
|
NM_025114.4(CEP290):c.5027A>G (p.His1676Arg)
|
rs375246057
|
0.00002
|
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
|
rs761763799
|
0.00002
|
NM_025114.4(CEP290):c.5371G>C (p.Val1791Leu)
|
rs955877363
|
0.00002
|
NM_025114.4(CEP290):c.5413C>T (p.Leu1805Phe)
|
rs1366280320
|
0.00002
|
NM_025114.4(CEP290):c.5431A>G (p.Arg1811Gly)
|
rs1460898199
|
0.00002
|
NM_025114.4(CEP290):c.551A>G (p.Gln184Arg)
|
rs374752439
|
0.00002
|
NM_025114.4(CEP290):c.563A>T (p.Asp188Val)
|
rs746511786
|
0.00002
|
NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln)
|
rs773459272
|
0.00002
|
NM_025114.4(CEP290):c.6571C>G (p.His2191Asp)
|
rs769798212
|
0.00002
|
NM_025114.4(CEP290):c.7083G>T (p.Gln2361His)
|
rs201801456
|
0.00002
|
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg)
|
rs776216960
|
0.00002
|
NM_025114.4(CEP290):c.739G>A (p.Val247Ile)
|
rs1409885182
|
0.00002
|
NM_025114.4(CEP290):c.835G>A (p.Asp279Asn)
|
rs796540607
|
0.00002
|
NM_025132.4(WDR19):c.106T>G (p.Tyr36Asp)
|
rs781578023
|
0.00002
|
NM_025132.4(WDR19):c.128G>A (p.Arg43His)
|
rs770312522
|
0.00002
|
NM_025132.4(WDR19):c.1294A>G (p.Ser432Gly)
|
rs778750936
|
0.00002
|
NM_025132.4(WDR19):c.1486G>A (p.Val496Ile)
|
rs1482640692
|
0.00002
|
NM_025132.4(WDR19):c.1904A>G (p.His635Arg)
|
rs763696990
|
0.00002
|
NM_025132.4(WDR19):c.1931C>T (p.Thr644Met)
|
rs770339514
|
0.00002
|
NM_025132.4(WDR19):c.1982+6C>T
|
rs745860100
|
0.00002
|
NM_025132.4(WDR19):c.200A>G (p.Asp67Gly)
|
rs778896318
|
0.00002
|
NM_025132.4(WDR19):c.2347A>G (p.Ile783Val)
|
rs1055716143
|
0.00002
|
NM_025132.4(WDR19):c.2668C>T (p.Pro890Ser)
|
rs1318406101
|
0.00002
|
NM_025132.4(WDR19):c.2674G>A (p.Val892Ile)
|
rs551049157
|
0.00002
|
NM_025132.4(WDR19):c.2785C>T (p.Arg929Cys)
|
rs1470166429
|
0.00002
|
NM_025132.4(WDR19):c.2945A>G (p.Glu982Gly)
|
rs923164828
|
0.00002
|
NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys)
|
rs769807270
|
0.00002
|
NM_025132.4(WDR19):c.3113G>A (p.Arg1038Gln)
|
rs1322637464
|
0.00002
|
NM_025132.4(WDR19):c.326G>A (p.Gly109Glu)
|
rs766029437
|
0.00002
|
NM_025132.4(WDR19):c.343G>A (p.Gly115Arg)
|
rs376471437
|
0.00002
|
NM_025132.4(WDR19):c.3485T>A (p.Ile1162Asn)
|
rs1429836760
|
0.00002
|
NM_025132.4(WDR19):c.3500G>T (p.Gly1167Val)
|
rs767154492
|
0.00002
|
NM_025132.4(WDR19):c.3553A>C (p.Lys1185Gln)
|
rs998142201
|
0.00002
|
NM_025132.4(WDR19):c.3565+4A>C
|
rs771431758
|
0.00002
|
NM_025132.4(WDR19):c.3702C>G (p.Ile1234Met)
|
rs1306554397
|
0.00002
|
NM_025132.4(WDR19):c.512C>T (p.Thr171Met)
|
rs777646123
|
0.00002
|
NM_025132.4(WDR19):c.738G>A (p.Met246Ile)
|
rs756937727
|
0.00002
|
NM_030578.4(B9D2):c.484G>T (p.Gly162Cys)
|
rs760322583
|
0.00002
|
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser)
|
rs768699088
|
0.00002
|
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)
|
rs886043059
|
0.00002
|
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe)
|
rs1428784861
|
0.00002
|
NM_031885.5(BBS2):c.1333A>G (p.Ile445Val)
|
rs145757541
|
0.00002
|
NM_031885.5(BBS2):c.1616G>A (p.Arg539Gln)
|
rs753398421
|
0.00002
|
NM_031885.5(BBS2):c.1713G>A (p.Met571Ile)
|
rs755329143
|
0.00002
|
NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg)
|
rs149473225
|
0.00002
|
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys)
|
rs200021475
|
0.00002
|
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr)
|
rs757737589
|
0.00002
|
NM_031885.5(BBS2):c.2104A>G (p.Ile702Val)
|
rs750150867
|
0.00002
|
NM_031885.5(BBS2):c.2125A>T (p.Thr709Ser)
|
rs202054876
|
0.00002
|
NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln)
|
rs761068592
|
0.00002
|
NM_031885.5(BBS2):c.685T>C (p.Tyr229His)
|
rs778543585
|
0.00002
|
NM_031885.5(BBS2):c.691A>G (p.Lys231Glu)
|
rs754487754
|
0.00002
|
NM_031885.5(BBS2):c.988G>A (p.Asp330Asn)
|
rs144573829
|
0.00002
|
NM_031924.8(RSPH3):c.-225G>A
|
rs144832123
|
0.00002
|
NM_031924.8(RSPH3):c.-414C>G
|
rs747323201
|
0.00002
|
NM_031924.8(RSPH3):c.-9C>T
|
rs1258329279
|
0.00002
|
NM_031924.8(RSPH3):c.552T>G (p.Ile184Met)
|
rs141317681
|
0.00002
|
NM_031924.8(RSPH3):c.653T>C (p.Val218Ala)
|
rs765288961
|
0.00002
|
NM_031924.8(RSPH3):c.686G>A (p.Arg229Gln)
|
rs772035250
|
0.00002
|
NM_031924.8(RSPH3):c.89G>A (p.Ser30Asn)
|
rs756674375
|
0.00002
|
NM_033028.5(BBS4):c.1126C>G (p.Leu376Val)
|
rs760324204
|
0.00002
|
NM_033028.5(BBS4):c.1439C>T (p.Thr480Met)
|
rs754792792
|
0.00002
|
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg)
|
rs758120829
|
0.00002
|
NM_033028.5(BBS4):c.332+5G>A
|
rs758789705
|
0.00002
|
NM_033028.5(BBS4):c.333-3C>T
|
rs369781535
|
0.00002
|
NM_033028.5(BBS4):c.799C>G (p.Pro267Ala)
|
rs775034843
|
0.00002
|
NM_033124.5(CCDC65):c.1087G>T (p.Val363Leu)
|
rs1262504273
|
0.00002
|
NM_033124.5(CCDC65):c.1280A>G (p.Asp427Gly)
|
rs866658813
|
0.00002
|
NM_033124.5(CCDC65):c.710C>T (p.Thr237Ile)
|
rs372541279
|
0.00002
|
NM_033124.5(CCDC65):c.871C>T (p.Arg291Trp)
|
rs1371441762
|
0.00002
|
NM_052844.4(DYNC2I2):c.1174G>A (p.Gly392Ser)
|
rs140484655
|
0.00002
|
NM_052844.4(DYNC2I2):c.1289C>T (p.Ser430Leu)
|
rs746996134
|
0.00002
|
NM_052844.4(DYNC2I2):c.313A>G (p.Ile105Val)
|
rs1192627410
|
0.00002
|
NM_052844.4(DYNC2I2):c.435+6G>C
|
rs756949101
|
0.00002
|
NM_052844.4(DYNC2I2):c.605G>A (p.Arg202Gln)
|
rs777142657
|
0.00002
|
NM_052844.4(DYNC2I2):c.677A>G (p.His226Arg)
|
rs139362186
|
0.00002
|
NM_052844.4(DYNC2I2):c.745C>T (p.Arg249Cys)
|
rs146276335
|
0.00002
|
NM_080860.4(RSPH1):c.295C>T (p.Arg99Trp)
|
rs770359437
|
0.00002
|
NM_080860.4(RSPH1):c.391G>A (p.Ala131Thr)
|
rs781199496
|
0.00002
|
NM_080860.4(RSPH1):c.824G>A (p.Arg275Gln)
|
rs376500424
|
0.00002
|
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu)
|
rs200086953
|
0.00002
|
NM_144596.4(TTC8):c.1347+6T>G
|
rs368072201
|
0.00002
|
NM_144596.4(TTC8):c.1382C>T (p.Ala461Val)
|
rs139195149
|
0.00002
|
NM_144596.4(TTC8):c.23T>A (p.Leu8Gln)
|
rs1277993132
|
0.00002
|
NM_144596.4(TTC8):c.322G>A (p.Ala108Thr)
|
rs1000702394
|
0.00002
|
NM_144596.4(TTC8):c.325G>A (p.Val109Ile)
|
rs150067562
|
0.00002
|
NM_144596.4(TTC8):c.43T>C (p.Phe15Leu)
|
rs1379428942
|
0.00002
|
NM_144596.4(TTC8):c.445C>T (p.Arg149Cys)
|
rs781214218
|
0.00002
|
NM_144596.4(TTC8):c.446G>A (p.Arg149His)
|
rs768271175
|
0.00002
|
NM_144596.4(TTC8):c.466G>A (p.Gly156Arg)
|
rs750521601
|
0.00002
|
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn)
|
rs199571677
|
0.00002
|
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys)
|
rs1018209116
|
0.00002
|
NM_144596.4(TTC8):c.855A>C (p.Leu285Phe)
|
rs774379732
|
0.00002
|
NM_144596.4(TTC8):c.988G>A (p.Ala330Thr)
|
rs568563702
|
0.00002
|
NM_145038.5(DRC1):c.1451C>T (p.Pro484Leu)
|
rs149334724
|
0.00002
|
NM_145038.5(DRC1):c.14G>A (p.Gly5Glu)
|
rs767420758
|
0.00002
|
NM_145038.5(DRC1):c.1639G>A (p.Val547Met)
|
rs760306333
|
0.00002
|
NM_145038.5(DRC1):c.2126C>T (p.Thr709Ile)
|
rs767091604
|
0.00002
|
NM_145038.5(DRC1):c.2207G>A (p.Arg736Gln)
|
rs761603781
|
0.00002
|
NM_145038.5(DRC1):c.313G>A (p.Glu105Lys)
|
rs759868480
|
0.00002
|
NM_145038.5(DRC1):c.697C>T (p.Arg233Cys)
|
rs756180718
|
0.00002
|
NM_145045.5(ODAD3):c.184G>T (p.Ala62Ser)
|
rs996181868
|
0.00002
|
NM_145045.5(ODAD3):c.397C>T (p.Arg133Cys)
|
rs780241121
|
0.00002
|
NM_147127.5(EVC2):c.1092G>A (p.Met364Ile)
|
rs769447796
|
0.00002
|
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp)
|
rs368371226
|
0.00002
|
NM_147127.5(EVC2):c.1499G>A (p.Arg500Gln)
|
rs770644264
|
0.00002
|
NM_147127.5(EVC2):c.1567G>T (p.Ala523Ser)
|
rs200622704
|
0.00002
|
NM_147127.5(EVC2):c.2180G>A (p.Arg727His)
|
rs140363692
|
0.00002
|
NM_147127.5(EVC2):c.2681A>T (p.Gln894Leu)
|
rs556658594
|
0.00002
|
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln)
|
rs767317898
|
0.00002
|
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp)
|
rs139610006
|
0.00002
|
NM_147127.5(EVC2):c.3827G>T (p.Arg1276Ile)
|
rs751725959
|
0.00002
|
NM_147127.5(EVC2):c.663G>T (p.Arg221Ser)
|
rs753207027
|
0.00002
|
NM_147127.5(EVC2):c.869C>T (p.Thr290Met)
|
rs149414427
|
0.00002
|
NM_152384.3(BBS5):c.226A>G (p.Ile76Val)
|
rs763696357
|
0.00002
|
NM_152384.3(BBS5):c.229T>A (p.Leu77Met)
|
rs753387321
|
0.00002
|
NM_152384.3(BBS5):c.935G>A (p.Arg312His)
|
rs751420732
|
0.00002
|
NM_152618.3(BBS12):c.1292G>A (p.Arg431Gln)
|
rs776216693
|
0.00002
|
NM_152618.3(BBS12):c.166C>T (p.Leu56Phe)
|
rs751515113
|
0.00002
|
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)
|
rs759088490
|
0.00002
|
NM_152618.3(BBS12):c.2021G>A (p.Arg674His)
|
rs766952842
|
0.00002
|
NM_152618.3(BBS12):c.775A>G (p.Thr259Ala)
|
rs746565072
|
0.00002
|
NM_152732.5(RSPH9):c.683T>C (p.Ile228Thr)
|
rs753489926
|
0.00002
|
NM_153704.6(TMEM67):c.169A>G (p.Ile57Val)
|
rs1303516077
|
0.00002
|
NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg)
|
rs142280651
|
0.00002
|
NM_153704.6(TMEM67):c.1928G>A (p.Arg643Gln)
|
rs776677392
|
0.00002
|
NM_153704.6(TMEM67):c.2314A>G (p.Met772Val)
|
rs777291564
|
0.00002
|
NM_153704.6(TMEM67):c.2740A>G (p.Met914Val)
|
rs758944470
|
0.00002
|
NM_153704.6(TMEM67):c.42G>T (p.Trp14Cys)
|
rs781254251
|
0.00002
|
NM_153704.6(TMEM67):c.5C>T (p.Ala2Val)
|
rs770813739
|
0.00002
|
NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys)
|
rs768183184
|
0.00002
|
NM_153704.6(TMEM67):c.64G>A (p.Val22Met)
|
rs770779757
|
0.00002
|
NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly)
|
rs115766095
|
0.00002
|
NM_153704.6(TMEM67):c.799G>A (p.Ala267Thr)
|
rs752179627
|
0.00002
|
NM_153717.3(EVC):c.1303C>T (p.Arg435Cys)
|
rs756430334
|
0.00002
|
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu)
|
rs376440801
|
0.00002
|
NM_153717.3(EVC):c.187C>G (p.Gln63Glu)
|
rs371329240
|
0.00002
|
NM_153717.3(EVC):c.188A>G (p.Gln63Arg)
|
rs772017175
|
0.00002
|
NM_153717.3(EVC):c.2516G>A (p.Arg839Lys)
|
rs745451709
|
0.00002
|
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys)
|
rs772327981
|
0.00002
|
NM_153717.3(EVC):c.409C>A (p.Pro137Thr)
|
rs752906200
|
0.00002
|
NM_153717.3(EVC):c.626T>C (p.Val209Ala)
|
rs1230866971
|
0.00002
|
NM_170784.3(MKKS):c.1085A>G (p.His362Arg)
|
rs373858682
|
0.00002
|
NM_170784.3(MKKS):c.1169G>A (p.Cys390Tyr)
|
rs1361214616
|
0.00002
|
NM_170784.3(MKKS):c.1282G>A (p.Asp428Asn)
|
rs779416496
|
0.00002
|
NM_170784.3(MKKS):c.1318C>G (p.Gln440Glu)
|
rs772537800
|
0.00002
|
NM_170784.3(MKKS):c.363A>C (p.Lys121Asn)
|
rs745313480
|
0.00002
|
NM_170784.3(MKKS):c.554C>T (p.Thr185Ile)
|
rs1321192032
|
0.00002
|
NM_170784.3(MKKS):c.871G>A (p.Val291Ile)
|
rs910468710
|
0.00002
|
NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr)
|
rs758567781
|
0.00002
|
NM_176824.3(BBS7):c.1450C>T (p.Arg484Cys)
|
rs747889031
|
0.00002
|
NM_176824.3(BBS7):c.2146T>C (p.Ter716Arg)
|
rs200470633
|
0.00002
|
NM_176824.3(BBS7):c.37G>A (p.Val13Met)
|
rs753027552
|
0.00002
|
NM_176824.3(BBS7):c.442A>C (p.Asn148His)
|
rs982037757
|
0.00002
|
NM_176824.3(BBS7):c.478C>T (p.Arg160Cys)
|
rs756538454
|
0.00002
|
NM_176824.3(BBS7):c.508A>G (p.Arg170Gly)
|
rs199891330
|
0.00002
|
NM_176824.3(BBS7):c.532T>A (p.Ser178Thr)
|
rs750684046
|
0.00002
|
NM_178452.6(DNAAF1):c.1259C>G (p.Thr420Ser)
|
rs1165621423
|
0.00002
|
NM_178452.6(DNAAF1):c.154G>A (p.Gly52Ser)
|
rs143490141
|
0.00002
|
NM_178452.6(DNAAF1):c.2063C>T (p.Pro688Leu)
|
rs149659582
|
0.00002
|
NM_178452.6(DNAAF1):c.461G>A (p.Arg154His)
|
rs200946538
|
0.00002
|
NM_178452.6(DNAAF1):c.638T>C (p.Ile213Thr)
|
rs1433999083
|
0.00002
|
NM_181426.2(CCDC39):c.1247A>G (p.Glu416Gly)
|
rs757515577
|
0.00002
|
NM_181426.2(CCDC39):c.1528-3C>T
|
rs1319606277
|
0.00002
|
NM_181426.2(CCDC39):c.157A>C (p.Asn53His)
|
rs778274253
|
0.00002
|
NM_181426.2(CCDC39):c.2485C>T (p.Arg829Cys)
|
rs781020567
|
0.00002
|
NM_181426.2(CCDC39):c.2486G>A (p.Arg829His)
|
rs528863074
|
0.00002
|
NM_181426.2(CCDC39):c.2758A>G (p.Ser920Gly)
|
rs977401121
|
0.00002
|
NM_181426.2(CCDC39):c.424G>A (p.Ala142Thr)
|
rs754066480
|
0.00002
|
NM_198428.3(BBS9):c.1431G>A (p.Met477Ile)
|
rs1443035026
|
0.00002
|
NM_198428.3(BBS9):c.145C>G (p.Leu49Val)
|
rs777409972
|
0.00002
|
NM_198428.3(BBS9):c.1741C>T (p.His581Tyr)
|
rs537110423
|
0.00002
|
NM_198428.3(BBS9):c.1798C>T (p.Arg600Cys)
|
rs775703296
|
0.00002
|
NM_198428.3(BBS9):c.2036G>A (p.Arg679Gln)
|
rs768958916
|
0.00002
|
NM_198428.3(BBS9):c.2059A>G (p.Lys687Glu)
|
rs760800602
|
0.00002
|
NM_198428.3(BBS9):c.205C>A (p.Leu69Ile)
|
rs375757123
|
0.00002
|
NM_198428.3(BBS9):c.2294_2296del (p.Glu765_Leu766delinsVal)
|
rs752782918
|
0.00002
|
NM_198428.3(BBS9):c.2468G>A (p.Gly823Asp)
|
rs1176589347
|
0.00002
|
NM_198428.3(BBS9):c.2653G>T (p.Val885Phe)
|
rs950624105
|
0.00002
|
NM_198428.3(BBS9):c.335T>C (p.Leu112Ser)
|
rs904098347
|
0.00002
|
NM_198428.3(BBS9):c.433G>A (p.Gly145Ser)
|
rs144340890
|
0.00002
|
NM_198428.3(BBS9):c.565C>T (p.Arg189Cys)
|
rs776941068
|
0.00002
|
NM_198428.3(BBS9):c.566G>A (p.Arg189His)
|
rs547643751
|
0.00002
|
NM_198428.3(BBS9):c.818A>G (p.Asp273Gly)
|
rs1264926096
|
0.00002
|
NM_198525.3(KIF7):c.1367C>T (p.Ser456Phe)
|
rs1175288371
|
0.00002
|
NM_198525.3(KIF7):c.1387G>A (p.Gly463Ser)
|
rs1485867610
|
0.00002
|
NM_198525.3(KIF7):c.1450G>A (p.Glu484Lys)
|
rs900459039
|
0.00002
|
NM_198525.3(KIF7):c.1564G>A (p.Asp522Asn)
|
rs774902437
|
0.00002
|
NM_198525.3(KIF7):c.1762G>A (p.Glu588Lys)
|
rs746549341
|
0.00002
|
NM_198525.3(KIF7):c.1970G>A (p.Ser657Asn)
|
rs367617135
|
0.00002
|
NM_198525.3(KIF7):c.2010G>C (p.Glu670Asp)
|
rs781476519
|
0.00002
|
NM_198525.3(KIF7):c.2104C>T (p.Arg702Trp)
|
rs781032745
|
0.00002
|
NM_198525.3(KIF7):c.2116G>T (p.Ala706Ser)
|
rs373361316
|
0.00002
|
NM_198525.3(KIF7):c.2231G>A (p.Arg744His)
|
rs758730416
|
0.00002
|
NM_198525.3(KIF7):c.2374G>A (p.Ala792Thr)
|
rs139150855
|
0.00002
|
NM_198525.3(KIF7):c.2476C>T (p.Arg826Trp)
|
rs139711238
|
0.00002
|
NM_198525.3(KIF7):c.2486A>C (p.Gln829Pro)
|
rs768110060
|
0.00002
|
NM_198525.3(KIF7):c.2495G>A (p.Arg832Gln)
|
rs371841682
|
0.00002
|
NM_198525.3(KIF7):c.2521C>T (p.Arg841Trp)
|
rs147040400
|
0.00002
|
NM_198525.3(KIF7):c.2584C>T (p.Arg862Cys)
|
rs758999185
|
0.00002
|
NM_198525.3(KIF7):c.2718+6G>A
|
rs968822922
|
0.00002
|
NM_198525.3(KIF7):c.2918G>A (p.Arg973Gln)
|
rs762483775
|
0.00002
|
NM_198525.3(KIF7):c.3011G>A (p.Arg1004His)
|
rs776364872
|
0.00002
|
NM_198525.3(KIF7):c.3023A>G (p.Asp1008Gly)
|
rs769931246
|
0.00002
|
NM_198525.3(KIF7):c.3248A>C (p.Asn1083Thr)
|
rs746652178
|
0.00002
|
NM_198525.3(KIF7):c.3430C>T (p.Arg1144Trp)
|
rs571807299
|
0.00002
|
NM_198525.3(KIF7):c.3566G>A (p.Arg1189Gln)
|
rs759709247
|
0.00002
|
NM_198525.3(KIF7):c.3646G>A (p.Ala1216Thr)
|
rs748648030
|
0.00002
|
NM_198525.3(KIF7):c.3698G>C (p.Arg1233Thr)
|
rs750635928
|
0.00002
|
NM_198525.3(KIF7):c.3811G>A (p.Ala1271Thr)
|
rs754341930
|
0.00002
|
NM_198525.3(KIF7):c.3835C>T (p.Arg1279Cys)
|
rs749221779
|
0.00002
|
NM_198525.3(KIF7):c.3974G>A (p.Arg1325Gln)
|
rs73477443
|
0.00002
|
NM_198525.3(KIF7):c.448A>C (p.Lys150Gln)
|
rs1050207869
|
0.00002
|
NM_198525.3(KIF7):c.466C>G (p.Leu156Val)
|
rs1365593121
|
0.00002
|
NM_198525.3(KIF7):c.506G>A (p.Arg169Gln)
|
rs766793289
|
0.00002
|
NM_198525.3(KIF7):c.716C>A (p.Ala239Asp)
|
rs1188936390
|
0.00002
|
NM_213607.3(CCDC103):c.181C>T (p.Arg61Trp)
|
rs763938078
|
0.00002
|
NM_000328.3(RPGR):c.2337C>G (p.Ile779Met)
|
rs1342166642
|
0.00001
|
NM_001006657.2(WDR35):c.1217T>C (p.Phe406Ser)
|
rs971237623
|
0.00001
|
NM_001009894.3(RLIG1):c.*1008T>C
|
rs762987255
|
0.00001
|
NM_001010892.3(RSPH4A):c.1089A>C (p.Glu363Asp)
|
rs758997589
|
0.00001
|
NM_001010892.3(RSPH4A):c.1111G>A (p.Val371Met)
|
rs1379993014
|
0.00001
|
NM_001010892.3(RSPH4A):c.1120C>T (p.Arg374Cys)
|
rs768193419
|
0.00001
|
NM_001010892.3(RSPH4A):c.1204G>A (p.Glu402Lys)
|
rs945197853
|
0.00001
|
NM_001010892.3(RSPH4A):c.1241C>T (p.Pro414Leu)
|
rs1394282681
|
0.00001
|
NM_001010892.3(RSPH4A):c.134C>T (p.Ala45Val)
|
rs372113802
|
0.00001
|
NM_001010892.3(RSPH4A):c.1379A>G (p.Lys460Arg)
|
rs1436491672
|
0.00001
|
NM_001010892.3(RSPH4A):c.1394G>A (p.Arg465Gln)
|
rs777456038
|
0.00001
|
NM_001010892.3(RSPH4A):c.1478C>A (p.Ala493Glu)
|
rs753449428
|
0.00001
|
NM_001010892.3(RSPH4A):c.1531G>A (p.Glu511Lys)
|
rs1221446542
|
0.00001
|
NM_001010892.3(RSPH4A):c.1666C>T (p.Arg556Cys)
|
rs777653223
|
0.00001
|
NM_001010892.3(RSPH4A):c.1806G>T (p.Gln602His)
|
rs1775775547
|
0.00001
|
NM_001010892.3(RSPH4A):c.1861A>G (p.Ile621Val)
|
rs748272434
|
0.00001
|
NM_001010892.3(RSPH4A):c.1912G>A (p.Gly638Ser)
|
rs370338820
|
0.00001
|
NM_001010892.3(RSPH4A):c.1917-3T>C
|
rs757886950
|
0.00001
|
NM_001010892.3(RSPH4A):c.1934A>G (p.Tyr645Cys)
|
rs746646378
|
0.00001
|
NM_001010892.3(RSPH4A):c.2017C>A (p.Pro673Thr)
|
rs920942886
|
0.00001
|
NM_001010892.3(RSPH4A):c.206C>T (p.Thr69Met)
|
rs1398453218
|
0.00001
|
NM_001010892.3(RSPH4A):c.488G>A (p.Arg163Gln)
|
rs1215954352
|
0.00001
|
NM_001010892.3(RSPH4A):c.563G>A (p.Ser188Asn)
|
rs376372993
|
0.00001
|
NM_001010892.3(RSPH4A):c.730C>T (p.Arg244Cys)
|
rs778774449
|
0.00001
|
NM_001010892.3(RSPH4A):c.803T>C (p.Phe268Ser)
|
rs774797157
|
0.00001
|
NM_001010892.3(RSPH4A):c.916G>A (p.Glu306Lys)
|
rs781463706
|
0.00001
|
NM_001010892.3(RSPH4A):c.965T>C (p.Phe322Ser)
|
rs1428425636
|
0.00001
|
NM_001034853.2(RPGR):c.106G>T (p.Val36Phe)
|
rs62638628
|
0.00001
|
NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg)
|
rs794727019
|
0.00001
|
NM_001034853.2(RPGR):c.1506+6G>C
|
rs1464455035
|
0.00001
|
NM_001034853.2(RPGR):c.1624G>A (p.Asp542Asn)
|
rs1159969109
|
0.00001
|
NM_001034853.2(RPGR):c.1777G>A (p.Ala593Thr)
|
rs1490761121
|
0.00001
|
NM_001034853.2(RPGR):c.2417A>G (p.Glu806Gly)
|
rs1364555173
|
0.00001
|
NM_001034853.2(RPGR):c.3151G>A (p.Glu1051Lys)
|
rs1235791633
|
0.00001
|
NM_001034853.2(RPGR):c.746C>T (p.Ala249Val)
|
rs1251721610
|
0.00001
|
NM_001034853.2(RPGR):c.82G>A (p.Gly28Ser)
|
rs779957555
|
0.00001
|
NM_001044385.3(TMEM237):c.101C>T (p.Pro34Leu)
|
rs1559590115
|
0.00001
|
NM_001044385.3(TMEM237):c.1038-6T>G
|
rs758523904
|
0.00001
|
NM_001044385.3(TMEM237):c.1135A>T (p.Arg379Trp)
|
rs747158935
|
0.00001
|
NM_001044385.3(TMEM237):c.1144A>G (p.Met382Val)
|
rs1437714395
|
0.00001
|
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys)
|
rs373445814
|
0.00001
|
NM_001044385.3(TMEM237):c.231G>T (p.Glu77Asp)
|
rs779250127
|
0.00001
|
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys)
|
rs1186656902
|
0.00001
|
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val)
|
rs759392151
|
0.00001
|
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val)
|
rs772680401
|
0.00001
|
NM_001044385.3(TMEM237):c.428A>G (p.Asn143Ser)
|
rs750312169
|
0.00001
|
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala)
|
rs184256195
|
0.00001
|
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu)
|
rs771052304
|
0.00001
|
NM_001044385.3(TMEM237):c.469C>A (p.Gln157Lys)
|
rs762678333
|
0.00001
|
NM_001044385.3(TMEM237):c.553C>A (p.Arg185=)
|
rs754056989
|
0.00001
|
NM_001044385.3(TMEM237):c.575G>A (p.Arg192His)
|
rs186216206
|
0.00001
|
NM_001044385.3(TMEM237):c.59T>C (p.Leu20Pro)
|
rs373956551
|
0.00001
|
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr)
|
rs773685442
|
0.00001
|
NM_001044385.3(TMEM237):c.665A>G (p.His222Arg)
|
rs749330370
|
0.00001
|
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln)
|
rs770053080
|
0.00001
|
NM_001044385.3(TMEM237):c.714C>G (p.Gly238=)
|
rs370681829
|
0.00001
|
NM_001044385.3(TMEM237):c.716G>C (p.Cys239Ser)
|
rs769694232
|
0.00001
|
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met)
|
rs759814109
|
0.00001
|
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met)
|
rs886055448
|
0.00001
|
NM_001044385.3(TMEM237):c.869+5T>C
|
rs530769303
|
0.00001
|
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys)
|
rs1209527419
|
0.00001
|
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln)
|
rs745540263
|
0.00001
|
NM_001044385.3(TMEM237):c.943+5G>A
|
rs779322966
|
0.00001
|
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His)
|
rs576586379
|
0.00001
|
NM_001077418.2(TMEM231):c.-44C>A
|
rs1419518232
|
0.00001
|
NM_001077418.3(TMEM231):c.-12C>G
|
rs745498623
|
0.00001
|
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys)
|
rs1597051521
|
0.00001
|
NM_001077418.3(TMEM231):c.139+23G>A
|
rs770598456
|
0.00001
|
NM_001077418.3(TMEM231):c.139+25C>T
|
rs1474874368
|
0.00001
|
NM_001077418.3(TMEM231):c.235G>C (p.Gly79Arg)
|
rs766492182
|
0.00001
|
NM_001077418.3(TMEM231):c.263C>T (p.Ala88Val)
|
rs1309156955
|
0.00001
|
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn)
|
rs759954710
|
0.00001
|
NM_001077418.3(TMEM231):c.356A>G (p.His119Arg)
|
rs1255071095
|
0.00001
|
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro)
|
rs1202833405
|
0.00001
|
NM_001077418.3(TMEM231):c.446C>T (p.Ala149Val)
|
rs750935858
|
0.00001
|
NM_001077418.3(TMEM231):c.488T>C (p.Phe163Ser)
|
rs566395744
|
0.00001
|
NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser)
|
rs778407563
|
0.00001
|
NM_001077418.3(TMEM231):c.520G>A (p.Gly174Arg)
|
rs763194213
|
0.00001
|
NM_001077418.3(TMEM231):c.589G>A (p.Val197Met)
|
rs745485432
|
0.00001
|
NM_001077418.3(TMEM231):c.665-3C>T
|
rs780063686
|
0.00001
|
NM_001077418.3(TMEM231):c.673G>A (p.Val225Ile)
|
rs746055228
|
0.00001
|
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu)
|
rs746025189
|
0.00001
|
NM_001077418.3(TMEM231):c.72G>C (p.Ala24=)
|
rs746685376
|
0.00001
|
NM_001077418.3(TMEM231):c.755C>T (p.Pro252Leu)
|
rs1230743826
|
0.00001
|
NM_001077418.3(TMEM231):c.898A>G (p.Ile300Val)
|
rs768632156
|
0.00001
|
NM_001077418.3(TMEM231):c.920G>A (p.Arg307Gln)
|
rs746970206
|
0.00001
|
NM_001077418.3(TMEM231):c.99C>T (p.Leu33=)
|
rs1435643293
|
0.00001
|
NM_001082538.3(TCTN1):c.1034C>T (p.Ser345Leu)
|
rs764428510
|
0.00001
|
NM_001082538.3(TCTN1):c.113C>G (p.Thr38Ser)
|
rs1414721255
|
0.00001
|
NM_001082538.3(TCTN1):c.1150G>A (p.Val384Met)
|
rs768050958
|
0.00001
|
NM_001082538.3(TCTN1):c.1217G>C (p.Arg406Thr)
|
rs372139162
|
0.00001
|
NM_001082538.3(TCTN1):c.1309A>G (p.Met437Val)
|
rs777277575
|
0.00001
|
NM_001082538.3(TCTN1):c.1349C>T (p.Pro450Leu)
|
rs755076199
|
0.00001
|
NM_001082538.3(TCTN1):c.1441G>A (p.Asp481Asn)
|
rs891438919
|
0.00001
|
NM_001082538.3(TCTN1):c.1522C>T (p.Leu508Phe)
|
rs1016934113
|
0.00001
|
NM_001082538.3(TCTN1):c.1562A>T (p.Tyr521Phe)
|
rs978264567
|
0.00001
|
NM_001082538.3(TCTN1):c.1627T>A (p.Phe543Ile)
|
rs928189605
|
0.00001
|
NM_001082538.3(TCTN1):c.1636-3C>T
|
rs1456445051
|
0.00001
|
NM_001082538.3(TCTN1):c.1646G>A (p.Gly549Glu)
|
rs780673992
|
0.00001
|
NM_001082538.3(TCTN1):c.1663C>T (p.Leu555Phe)
|
rs375896348
|
0.00001
|
NM_001082538.3(TCTN1):c.1679T>C (p.Val560Ala)
|
rs765240282
|
0.00001
|
NM_001082538.3(TCTN1):c.169C>T (p.Pro57Ser)
|
rs543518078
|
0.00001
|
NM_001082538.3(TCTN1):c.1773T>G (p.Phe591Leu)
|
rs201198236
|
0.00001
|
NM_001082538.3(TCTN1):c.219C>G (p.Asp73Glu)
|
rs748298895
|
0.00001
|
NM_001082538.3(TCTN1):c.232T>C (p.Cys78Arg)
|
rs1565956183
|
0.00001
|
NM_001082538.3(TCTN1):c.233G>A (p.Cys78Tyr)
|
rs760047850
|
0.00001
|
NM_001082538.3(TCTN1):c.286G>A (p.Asp96Asn)
|
rs1048212721
|
0.00001
|
NM_001082538.3(TCTN1):c.341C>T (p.Thr114Met)
|
rs768244592
|
0.00001
|
NM_001082538.3(TCTN1):c.346G>A (p.Asp116Asn)
|
rs983420048
|
0.00001
|
NM_001082538.3(TCTN1):c.467C>T (p.Thr156Ile)
|
rs369542737
|
0.00001
|
NM_001082538.3(TCTN1):c.666T>G (p.Phe222Leu)
|
rs2066301569
|
0.00001
|
NM_001082538.3(TCTN1):c.671C>T (p.Ser224Leu)
|
rs376544711
|
0.00001
|
NM_001082538.3(TCTN1):c.713C>T (p.Ala238Val)
|
rs370816745
|
0.00001
|
NM_001082538.3(TCTN1):c.83C>T (p.Pro28Leu)
|
rs1305265141
|
0.00001
|
NM_001082538.3(TCTN1):c.899G>A (p.Arg300Gln)
|
rs746946452
|
0.00001
|
NM_001082538.3(TCTN1):c.902G>A (p.Arg301Gln)
|
rs780877516
|
0.00001
|
NM_001082538.3(TCTN1):c.926C>T (p.Pro309Leu)
|
rs1291603381
|
0.00001
|
NM_001082538.3(TCTN1):c.956T>G (p.Leu319Arg)
|
rs762127242
|
0.00001
|
NM_001134831.2(AHI1):c.10+5G>A
|
rs1222293284
|
0.00001
|
NM_001134831.2(AHI1):c.1156C>T (p.Arg386Trp)
|
rs183862577
|
0.00001
|
NM_001134831.2(AHI1):c.1175A>G (p.Tyr392Cys)
|
rs561883150
|
0.00001
|
NM_001134831.2(AHI1):c.1189G>A (p.Val397Met)
|
rs1333376430
|
0.00001
|
NM_001134831.2(AHI1):c.1301T>C (p.Leu434Pro)
|
rs771603649
|
0.00001
|
NM_001134831.2(AHI1):c.1306G>A (p.Gly436Ser)
|
rs760470566
|
0.00001
|
NM_001134831.2(AHI1):c.1342G>A (p.Glu448Lys)
|
rs777952691
|
0.00001
|
NM_001134831.2(AHI1):c.1346T>A (p.Ile449Asn)
|
rs1406446272
|
0.00001
|
NM_001134831.2(AHI1):c.1414C>T (p.Arg472Trp)
|
rs969178984
|
0.00001
|
NM_001134831.2(AHI1):c.145A>G (p.Ile49Val)
|
rs533707253
|
0.00001
|
NM_001134831.2(AHI1):c.1468A>G (p.Ile490Val)
|
rs1316545198
|
0.00001
|
NM_001134831.2(AHI1):c.1513C>T (p.Pro505Ser)
|
rs1443719410
|
0.00001
|
NM_001134831.2(AHI1):c.158T>G (p.Leu53Arg)
|
rs766231229
|
0.00001
|
NM_001134831.2(AHI1):c.1607G>A (p.Gly536Glu)
|
rs1389750653
|
0.00001
|
NM_001134831.2(AHI1):c.1625G>C (p.Cys542Ser)
|
rs768523364
|
0.00001
|
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys)
|
rs763970632
|
0.00001
|
NM_001134831.2(AHI1):c.1786C>T (p.Arg596Cys)
|
rs375309864
|
0.00001
|
NM_001134831.2(AHI1):c.1787G>A (p.Arg596His)
|
rs373384543
|
0.00001
|
NM_001134831.2(AHI1):c.1924C>T (p.Pro642Ser)
|
rs1257057591
|
0.00001
|
NM_001134831.2(AHI1):c.1928C>T (p.Ser643Phe)
|
rs761238509
|
0.00001
|
NM_001134831.2(AHI1):c.2011A>G (p.Thr671Ala)
|
rs780154667
|
0.00001
|
NM_001134831.2(AHI1):c.2084C>T (p.Pro695Leu)
|
rs1784911034
|
0.00001
|
NM_001134831.2(AHI1):c.2120C>G (p.Pro707Arg)
|
rs932386191
|
0.00001
|
NM_001134831.2(AHI1):c.2125G>A (p.Val709Ile)
|
rs752009063
|
0.00001
|
NM_001134831.2(AHI1):c.2129G>A (p.Arg710Lys)
|
rs1352407748
|
0.00001
|
NM_001134831.2(AHI1):c.2237T>C (p.Phe746Ser)
|
rs1403041060
|
0.00001
|
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)
|
rs376754552
|
0.00001
|
NM_001134831.2(AHI1):c.2285G>A (p.Gly762Glu)
|
rs1348260638
|
0.00001
|
NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu)
|
rs755688765
|
0.00001
|
NM_001134831.2(AHI1):c.2369A>G (p.Asn790Ser)
|
rs1181424358
|
0.00001
|
NM_001134831.2(AHI1):c.2431A>G (p.Asn811Asp)
|
rs1362092820
|
0.00001
|
NM_001134831.2(AHI1):c.2491A>T (p.Ile831Leu)
|
rs746256168
|
0.00001
|
NM_001134831.2(AHI1):c.2492+3A>G
|
rs951268770
|
0.00001
|
NM_001134831.2(AHI1):c.2504G>A (p.Arg835Lys)
|
rs767879919
|
0.00001
|
NM_001134831.2(AHI1):c.2580T>A (p.Ala860=)
|
rs1185759126
|
0.00001
|
NM_001134831.2(AHI1):c.2623+4A>G
|
rs766458098
|
0.00001
|
NM_001134831.2(AHI1):c.2638A>G (p.Met880Val)
|
rs759069413
|
0.00001
|
NM_001134831.2(AHI1):c.266A>G (p.Asn89Ser)
|
rs1374914353
|
0.00001
|
NM_001134831.2(AHI1):c.2671C>G (p.Arg891Gly)
|
rs1355690902
|
0.00001
|
NM_001134831.2(AHI1):c.2795G>A (p.Arg932His)
|
rs1301526139
|
0.00001
|
NM_001134831.2(AHI1):c.281C>T (p.Thr94Met)
|
rs373490556
|
0.00001
|
NM_001134831.2(AHI1):c.2837A>G (p.Gln946Arg)
|
rs1183310371
|
0.00001
|
NM_001134831.2(AHI1):c.2846T>C (p.Leu949Pro)
|
rs756470790
|
0.00001
|
NM_001134831.2(AHI1):c.2879C>A (p.Ser960Tyr)
|
rs764830616
|
0.00001
|
NM_001134831.2(AHI1):c.2905A>T (p.Thr969Ser)
|
rs1012024407
|
0.00001
|
NM_001134831.2(AHI1):c.2906C>G (p.Thr969Ser)
|
rs760411761
|
0.00001
|
NM_001134831.2(AHI1):c.2961+5G>A
|
rs1304755953
|
0.00001
|
NM_001134831.2(AHI1):c.3076G>A (p.Glu1026Lys)
|
rs1054804025
|
0.00001
|
NM_001134831.2(AHI1):c.3157G>A (p.Ala1053Thr)
|
rs1261277645
|
0.00001
|
NM_001134831.2(AHI1):c.3165+5G>C
|
rs768634892
|
0.00001
|
NM_001134831.2(AHI1):c.3173C>T (p.Ala1058Val)
|
rs751040653
|
0.00001
|
NM_001134831.2(AHI1):c.3197G>A (p.Arg1066Gln)
|
rs544992761
|
0.00001
|
NM_001134831.2(AHI1):c.3271G>A (p.Gly1091Ser)
|
rs750829579
|
0.00001
|
NM_001134831.2(AHI1):c.3278T>C (p.Ile1093Thr)
|
rs749649946
|
0.00001
|
NM_001134831.2(AHI1):c.3296G>T (p.Gly1099Val)
|
rs1207608724
|
0.00001
|
NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser)
|
rs776053386
|
0.00001
|
NM_001134831.2(AHI1):c.3401T>C (p.Ile1134Thr)
|
rs1279871862
|
0.00001
|
NM_001134831.2(AHI1):c.3426+6T>A
|
rs1267329906
|
0.00001
|
NM_001134831.2(AHI1):c.3433A>G (p.Ile1145Val)
|
rs766168872
|
0.00001
|
NM_001134831.2(AHI1):c.3480G>A (p.Met1160Ile)
|
rs952789093
|
0.00001
|
NM_001134831.2(AHI1):c.3485+6C>T
|
rs748866983
|
0.00001
|
NM_001134831.2(AHI1):c.3491A>C (p.Glu1164Ala)
|
rs1232167375
|
0.00001
|
NM_001134831.2(AHI1):c.3541C>T (p.Arg1181Trp)
|
rs753932826
|
0.00001
|
NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val)
|
rs776098993
|
0.00001
|
NM_001134831.2(AHI1):c.3589-3C>T
|
rs781417999
|
0.00001
|
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg)
|
rs140836078
|
0.00001
|
NM_001134831.2(AHI1):c.379A>G (p.Lys127Glu)
|
rs912049113
|
0.00001
|
NM_001134831.2(AHI1):c.485A>C (p.Gln162Pro)
|
rs770822998
|
0.00001
|
NM_001134831.2(AHI1):c.532G>A (p.Glu178Lys)
|
rs1245690441
|
0.00001
|
NM_001134831.2(AHI1):c.53A>G (p.Glu18Gly)
|
rs776505818
|
0.00001
|
NM_001134831.2(AHI1):c.553G>T (p.Asp185Tyr)
|
rs1032930574
|
0.00001
|
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met)
|
rs781286716
|
0.00001
|
NM_001134831.2(AHI1):c.824A>G (p.Asp275Gly)
|
rs778231180
|
0.00001
|
NM_001134831.2(AHI1):c.848G>A (p.Ser283Asn)
|
rs749890939
|
0.00001
|
NM_001134831.2(AHI1):c.878T>C (p.Met293Thr)
|
rs759553258
|
0.00001
|
NM_001134831.2(AHI1):c.964G>A (p.Gly322Ser)
|
rs1382955866
|
0.00001
|
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)
|
rs548299486
|
0.00001
|
NM_001173990.3(TMEM216):c.14G>T (p.Gly5Val)
|
rs373854580
|
0.00001
|
NM_001173990.3(TMEM216):c.228T>C (p.Phe76=)
|
rs1383356739
|
0.00001
|
NM_001173990.3(TMEM216):c.257A>G (p.Lys86Arg)
|
rs1414360114
|
0.00001
|
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys)
|
rs1554972406
|
0.00001
|
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys)
|
rs774225426
|
0.00001
|
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr)
|
rs367737418
|
0.00001
|
NM_001173990.3(TMEM216):c.380T>G (p.Phe127Cys)
|
rs756738481
|
0.00001
|
NM_001173990.3(TMEM216):c.406G>A (p.Val136Met)
|
rs75668329
|
0.00001
|
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp)
|
rs528271337
|
0.00001
|
NM_001174150.2(ARL13B):c.1006C>T (p.Arg336Trp)
|
rs774235804
|
0.00001
|
NM_001174150.2(ARL13B):c.1117A>T (p.Thr373Ser)
|
rs747940414
|
0.00001
|
NM_001174150.2(ARL13B):c.1118C>T (p.Thr373Met)
|
rs369850890
|
0.00001
|
NM_001174150.2(ARL13B):c.1156C>T (p.Pro386Ser)
|
rs762309445
|
0.00001
|
NM_001174150.2(ARL13B):c.1159A>G (p.Lys387Glu)
|
rs773535816
|
0.00001
|
NM_001174150.2(ARL13B):c.169A>G (p.Lys57Glu)
|
rs777838538
|
0.00001
|
NM_001174150.2(ARL13B):c.195T>G (p.Phe65Leu)
|
rs776646616
|
0.00001
|
NM_001174150.2(ARL13B):c.202A>C (p.Thr68Pro)
|
rs759625669
|
0.00001
|
NM_001174150.2(ARL13B):c.20G>A (p.Ser7Asn)
|
rs1360370074
|
0.00001
|
NM_001174150.2(ARL13B):c.211G>A (p.Asp71Asn)
|
rs2076089782
|
0.00001
|
NM_001174150.2(ARL13B):c.22T>G (p.Cys8Gly)
|
rs1292813768
|
0.00001
|
NM_001174150.2(ARL13B):c.360A>G (p.Ile120Met)
|
rs1258750655
|
0.00001
|
NM_001174150.2(ARL13B):c.41G>A (p.Arg14Gln)
|
rs1163274036
|
0.00001
|
NM_001174150.2(ARL13B):c.436T>G (p.Cys146Gly)
|
rs202125140
|
0.00001
|
NM_001174150.2(ARL13B):c.479G>A (p.Cys160Tyr)
|
rs757417843
|
0.00001
|
NM_001174150.2(ARL13B):c.551A>G (p.Tyr184Cys)
|
rs773654634
|
0.00001
|
NM_001174150.2(ARL13B):c.614C>A (p.Thr205Lys)
|
rs150449935
|
0.00001
|
NM_001174150.2(ARL13B):c.64G>A (p.Val22Met)
|
rs752373152
|
0.00001
|
NM_001174150.2(ARL13B):c.715G>A (p.Glu239Lys)
|
rs778540135
|
0.00001
|
NM_001174150.2(ARL13B):c.721G>A (p.Asp241Asn)
|
rs757984271
|
0.00001
|
NM_001174150.2(ARL13B):c.775C>T (p.Pro259Ser)
|
rs538624288
|
0.00001
|
NM_001174150.2(ARL13B):c.794T>C (p.Ile265Thr)
|
rs144719706
|
0.00001
|
NM_001174150.2(ARL13B):c.834A>T (p.Gln278His)
|
rs772186970
|
0.00001
|
NM_001174150.2(ARL13B):c.841G>A (p.Glu281Lys)
|
rs745765178
|
0.00001
|
NM_001174150.2(ARL13B):c.857G>C (p.Gly286Ala)
|
rs1378023901
|
0.00001
|
NM_001174150.2(ARL13B):c.906_908dup (p.Gly302_Gln303insHis)
|
rs1278628108
|
0.00001
|
NM_001174150.2(ARL13B):c.926A>G (p.Gln309Arg)
|
rs766797911
|
0.00001
|
NM_001174150.2(ARL13B):c.938A>C (p.Glu313Ala)
|
rs1453508206
|
0.00001
|
NM_001174150.2(ARL13B):c.949G>A (p.Val317Ile)
|
rs758650562
|
0.00001
|
NM_001174150.2(ARL13B):c.961A>G (p.Lys321Glu)
|
rs769719854
|
0.00001
|
NM_001190787.3(MCIDAS):c.1151C>A (p.Pro384His)
|
rs939457499
|
0.00001
|
NM_001190787.3(MCIDAS):c.14G>A (p.Gly5Glu)
|
rs1438648674
|
0.00001
|
NM_001190787.3(MCIDAS):c.155C>T (p.Thr52Ile)
|
rs896487065
|
0.00001
|
NM_001190787.3(MCIDAS):c.277G>C (p.Ala93Pro)
|
rs115971569
|
0.00001
|
NM_001190787.3(MCIDAS):c.475C>G (p.Pro159Ala)
|
rs1439093107
|
0.00001
|
NM_001190787.3(MCIDAS):c.682G>T (p.Ala228Ser)
|
rs533613049
|
0.00001
|
NM_001190787.3(MCIDAS):c.8C>A (p.Ala3Glu)
|
rs1268527093
|
0.00001
|
NM_001190787.3(MCIDAS):c.964G>A (p.Ala322Thr)
|
rs113717721
|
0.00001
|
NM_001199397.3(NEK1):c.1028A>G (p.Gln343Arg)
|
rs184254879
|
0.00001
|
NM_001199397.3(NEK1):c.1206T>G (p.Asn402Lys)
|
rs754999219
|
0.00001
|
NM_001199397.3(NEK1):c.1420C>T (p.Leu474Phe)
|
rs1182459740
|
0.00001
|
NM_001199397.3(NEK1):c.1535C>T (p.Ala512Val)
|
rs771824152
|
0.00001
|
NM_001199397.3(NEK1):c.1538T>C (p.Val513Ala)
|
rs1217426330
|
0.00001
|
NM_001199397.3(NEK1):c.1625G>A (p.Arg542Gln)
|
rs1032792680
|
0.00001
|
NM_001199397.3(NEK1):c.1822C>T (p.Arg608Cys)
|
rs749461218
|
0.00001
|
NM_001199397.3(NEK1):c.2023G>A (p.Val675Ile)
|
rs748009791
|
0.00001
|
NM_001199397.3(NEK1):c.2035G>A (p.Asp679Asn)
|
rs1184211163
|
0.00001
|
NM_001199397.3(NEK1):c.2162G>A (p.Arg721Gln)
|
rs370106222
|
0.00001
|
NM_001199397.3(NEK1):c.2392C>G (p.Leu798Val)
|
rs1131690778
|
0.00001
|
NM_001199397.3(NEK1):c.2594C>A (p.Ser865Tyr)
|
rs1373992801
|
0.00001
|
NM_001199397.3(NEK1):c.2991T>G (p.Asp997Glu)
|
rs752555915
|
0.00001
|
NM_001199397.3(NEK1):c.3148C>T (p.Pro1050Ser)
|
rs749326267
|
0.00001
|
NM_001199397.3(NEK1):c.3295G>C (p.Asp1099His)
|
rs765205496
|
0.00001
|
NM_001199397.3(NEK1):c.3559G>A (p.Ala1187Thr)
|
rs772991635
|
0.00001
|
NM_001199397.3(NEK1):c.3664G>A (p.Glu1222Lys)
|
rs1219156888
|
0.00001
|
NM_001199397.3(NEK1):c.368A>C (p.Lys123Thr)
|
rs1561472203
|
0.00001
|
NM_001199397.3(NEK1):c.3793C>T (p.His1265Tyr)
|
rs747009789
|
0.00001
|
NM_001199397.3(NEK1):c.3830A>G (p.Asp1277Gly)
|
rs1157065841
|
0.00001
|
NM_001199397.3(NEK1):c.3847+6A>G
|
rs777525553
|
0.00001
|
NM_001199397.3(NEK1):c.460A>T (p.Asn154Tyr)
|
rs756418625
|
0.00001
|
NM_001199397.3(NEK1):c.641A>G (p.Lys214Arg)
|
rs1309738215
|
0.00001
|
NM_001199397.3(NEK1):c.781C>T (p.Arg261Cys)
|
rs191859401
|
0.00001
|
NM_001199397.3(NEK1):c.80G>A (p.Gly27Asp)
|
rs1419433113
|
0.00001
|
NM_001199397.3(NEK1):c.966G>C (p.Lys322Asn)
|
rs1419138752
|
0.00001
|
NM_001206927.2(DNAH8):c.10364T>C (p.Ile3455Thr)
|
rs759714537
|
0.00001
|
NM_001206927.2(DNAH8):c.10576G>A (p.Gly3526Arg)
|
rs199853566
|
0.00001
|
NM_001206927.2(DNAH8):c.11035G>A (p.Ala3679Thr)
|
rs1035761681
|
0.00001
|
NM_001206927.2(DNAH8):c.11123C>T (p.Thr3708Ile)
|
rs776651442
|
0.00001
|
NM_001206927.2(DNAH8):c.11176G>C (p.Gly3726Arg)
|
rs373404358
|
0.00001
|
NM_001206927.2(DNAH8):c.11230A>G (p.Asn3744Asp)
|
rs1213044875
|
0.00001
|
NM_001206927.2(DNAH8):c.11284G>A (p.Gly3762Ser)
|
rs745615652
|
0.00001
|
NM_001206927.2(DNAH8):c.11311A>G (p.Thr3771Ala)
|
rs768042230
|
0.00001
|
NM_001206927.2(DNAH8):c.1133A>G (p.Glu378Gly)
|
rs552179604
|
0.00001
|
NM_001206927.2(DNAH8):c.11398G>A (p.Val3800Ile)
|
rs371600150
|
0.00001
|
NM_001206927.2(DNAH8):c.11570T>G (p.Leu3857Trp)
|
rs143043316
|
0.00001
|
NM_001206927.2(DNAH8):c.11581G>C (p.Glu3861Gln)
|
rs1219964235
|
0.00001
|
NM_001206927.2(DNAH8):c.11969G>A (p.Gly3990Glu)
|
rs1265988328
|
0.00001
|
NM_001206927.2(DNAH8):c.119A>G (p.Glu40Gly)
|
rs777064945
|
0.00001
|
NM_001206927.2(DNAH8):c.12110T>C (p.Phe4037Ser)
|
rs1391386376
|
0.00001
|
NM_001206927.2(DNAH8):c.12176C>T (p.Ala4059Val)
|
rs780928277
|
0.00001
|
NM_001206927.2(DNAH8):c.12244A>G (p.Ile4082Val)
|
rs760843520
|
0.00001
|
NM_001206927.2(DNAH8):c.12280G>A (p.Ala4094Thr)
|
rs1340806081
|
0.00001
|
NM_001206927.2(DNAH8):c.12315G>T (p.Lys4105Asn)
|
rs994663754
|
0.00001
|
NM_001206927.2(DNAH8):c.12469A>G (p.Met4157Val)
|
rs1392416546
|
0.00001
|
NM_001206927.2(DNAH8):c.12596T>C (p.Ile4199Thr)
|
rs766816061
|
0.00001
|
NM_001206927.2(DNAH8):c.12637A>G (p.Thr4213Ala)
|
rs757129008
|
0.00001
|
NM_001206927.2(DNAH8):c.12701A>G (p.Glu4234Gly)
|
rs370456053
|
0.00001
|
NM_001206927.2(DNAH8):c.12739T>C (p.Phe4247Leu)
|
rs1583486346
|
0.00001
|
NM_001206927.2(DNAH8):c.12760C>A (p.Leu4254Ile)
|
rs753837313
|
0.00001
|
NM_001206927.2(DNAH8):c.12941A>T (p.Asp4314Val)
|
rs1422712718
|
0.00001
|
NM_001206927.2(DNAH8):c.12973C>T (p.Arg4325Trp)
|
rs201329381
|
0.00001
|
NM_001206927.2(DNAH8):c.13007G>A (p.Arg4336Lys)
|
rs372473768
|
0.00001
|
NM_001206927.2(DNAH8):c.13305G>T (p.Glu4435Asp)
|
rs181050326
|
0.00001
|
NM_001206927.2(DNAH8):c.13333A>G (p.Met4445Val)
|
rs1459751204
|
0.00001
|
NM_001206927.2(DNAH8):c.13655C>T (p.Thr4552Met)
|
rs375993164
|
0.00001
|
NM_001206927.2(DNAH8):c.13691T>C (p.Met4564Thr)
|
rs970547854
|
0.00001
|
NM_001206927.2(DNAH8):c.14021G>C (p.Arg4674Thr)
|
rs774150212
|
0.00001
|
NM_001206927.2(DNAH8):c.1407+14T>C
|
rs1206527569
|
0.00001
|
NM_001206927.2(DNAH8):c.184C>T (p.Arg62Trp)
|
rs778505007
|
0.00001
|
NM_001206927.2(DNAH8):c.2033T>G (p.Leu678Arg)
|
rs775047700
|
0.00001
|
NM_001206927.2(DNAH8):c.2039+6C>T
|
rs750551337
|
0.00001
|
NM_001206927.2(DNAH8):c.2056A>C (p.Ile686Leu)
|
rs376309134
|
0.00001
|
NM_001206927.2(DNAH8):c.2078T>C (p.Ile693Thr)
|
rs1189384115
|
0.00001
|
NM_001206927.2(DNAH8):c.209G>A (p.Gly70Glu)
|
rs770020515
|
0.00001
|
NM_001206927.2(DNAH8):c.2100T>G (p.Ile700Met)
|
rs758338554
|
0.00001
|
NM_001206927.2(DNAH8):c.2230C>T (p.Arg744Trp)
|
rs758774116
|
0.00001
|
NM_001206927.2(DNAH8):c.2231G>A (p.Arg744Gln)
|
rs546652224
|
0.00001
|
NM_001206927.2(DNAH8):c.229C>A (p.His77Asn)
|
rs1357378794
|
0.00001
|
NM_001206927.2(DNAH8):c.2420G>A (p.Arg807Gln)
|
rs1325804996
|
0.00001
|
NM_001206927.2(DNAH8):c.2552G>A (p.Ser851Asn)
|
rs1271804469
|
0.00001
|
NM_001206927.2(DNAH8):c.2582A>G (p.Gln861Arg)
|
rs1769214990
|
0.00001
|
NM_001206927.2(DNAH8):c.2662A>G (p.Lys888Glu)
|
rs1055070416
|
0.00001
|
NM_001206927.2(DNAH8):c.2750T>C (p.Val917Ala)
|
rs773425594
|
0.00001
|
NM_001206927.2(DNAH8):c.2901G>A (p.Glu967=)
|
rs762902639
|
0.00001
|
NM_001206927.2(DNAH8):c.320G>A (p.Arg107Gln)
|
rs765307487
|
0.00001
|
NM_001206927.2(DNAH8):c.3269G>A (p.Arg1090Gln)
|
rs774576655
|
0.00001
|
NM_001206927.2(DNAH8):c.3361C>A (p.Gln1121Lys)
|
rs200670267
|
0.00001
|
NM_001206927.2(DNAH8):c.3370A>G (p.Ile1124Val)
|
rs747236022
|
0.00001
|
NM_001206927.2(DNAH8):c.3466C>T (p.Pro1156Ser)
|
rs1239419536
|
0.00001
|
NM_001206927.2(DNAH8):c.3581C>T (p.Ala1194Val)
|
rs1060501472
|
0.00001
|
NM_001206927.2(DNAH8):c.358C>T (p.Pro120Ser)
|
rs759397600
|
0.00001
|
NM_001206927.2(DNAH8):c.3772C>T (p.His1258Tyr)
|
rs1258463187
|
0.00001
|
NM_001206927.2(DNAH8):c.382G>A (p.Glu128Lys)
|
rs763048415
|
0.00001
|
NM_001206927.2(DNAH8):c.3913A>G (p.Asn1305Asp)
|
rs754563016
|
0.00001
|
NM_001206927.2(DNAH8):c.3984A>T (p.Arg1328Ser)
|
rs749436834
|
0.00001
|
NM_001206927.2(DNAH8):c.4087G>T (p.Ala1363Ser)
|
rs201887726
|
0.00001
|
NM_001206927.2(DNAH8):c.4176G>T (p.Leu1392Phe)
|
rs1191544240
|
0.00001
|
NM_001206927.2(DNAH8):c.4327C>A (p.Pro1443Thr)
|
rs536307444
|
0.00001
|
NM_001206927.2(DNAH8):c.4349G>A (p.Arg1450Lys)
|
rs145520125
|
0.00001
|
NM_001206927.2(DNAH8):c.4540G>C (p.Glu1514Gln)
|
rs1407889028
|
0.00001
|
NM_001206927.2(DNAH8):c.4750G>A (p.Glu1584Lys)
|
rs201823651
|
0.00001
|
NM_001206927.2(DNAH8):c.4819C>T (p.Leu1607Phe)
|
rs1554226482
|
0.00001
|
NM_001206927.2(DNAH8):c.4845+5A>G
|
rs776258788
|
0.00001
|
NM_001206927.2(DNAH8):c.4976C>T (p.Thr1659Ile)
|
rs751367633
|
0.00001
|
NM_001206927.2(DNAH8):c.5161G>A (p.Val1721Ile)
|
rs746165563
|
0.00001
|
NM_001206927.2(DNAH8):c.5222T>C (p.Ile1741Thr)
|
rs761361186
|
0.00001
|
NM_001206927.2(DNAH8):c.5571+4A>G
|
rs762150721
|
0.00001
|
NM_001206927.2(DNAH8):c.5908G>A (p.Glu1970Lys)
|
rs138892245
|
0.00001
|
NM_001206927.2(DNAH8):c.5968C>T (p.His1990Tyr)
|
rs1776528709
|
0.00001
|
NM_001206927.2(DNAH8):c.5978C>T (p.Ser1993Leu)
|
rs747224041
|
0.00001
|
NM_001206927.2(DNAH8):c.6097A>G (p.Thr2033Ala)
|
rs1043207748
|
0.00001
|
NM_001206927.2(DNAH8):c.6172G>A (p.Gly2058Arg)
|
rs1413407899
|
0.00001
|
NM_001206927.2(DNAH8):c.6594G>A (p.Met2198Ile)
|
rs765618018
|
0.00001
|
NM_001206927.2(DNAH8):c.6656T>C (p.Val2219Ala)
|
rs571866276
|
0.00001
|
NM_001206927.2(DNAH8):c.674A>G (p.Asn225Ser)
|
rs548292757
|
0.00001
|
NM_001206927.2(DNAH8):c.6800G>A (p.Gly2267Glu)
|
rs766818202
|
0.00001
|
NM_001206927.2(DNAH8):c.6864C>G (p.Ile2288Met)
|
rs1412777895
|
0.00001
|
NM_001206927.2(DNAH8):c.722G>C (p.Cys241Ser)
|
rs1007614402
|
0.00001
|
NM_001206927.2(DNAH8):c.7303G>A (p.Val2435Ile)
|
rs749048233
|
0.00001
|
NM_001206927.2(DNAH8):c.7580A>G (p.Asn2527Ser)
|
rs769151939
|
0.00001
|
NM_001206927.2(DNAH8):c.762+4T>G
|
rs552492150
|
0.00001
|
NM_001206927.2(DNAH8):c.7620+6del
|
rs764807072
|
0.00001
|
NM_001206927.2(DNAH8):c.767C>T (p.Ala256Val)
|
rs776968317
|
0.00001
|
NM_001206927.2(DNAH8):c.774T>A (p.Phe258Leu)
|
rs1056358638
|
0.00001
|
NM_001206927.2(DNAH8):c.7984A>G (p.Ile2662Val)
|
rs575966640
|
0.00001
|
NM_001206927.2(DNAH8):c.8123C>A (p.Pro2708Gln)
|
rs757381549
|
0.00001
|
NM_001206927.2(DNAH8):c.8165G>A (p.Arg2722Gln)
|
rs1330298296
|
0.00001
|
NM_001206927.2(DNAH8):c.8381G>A (p.Gly2794Asp)
|
rs1274347654
|
0.00001
|
NM_001206927.2(DNAH8):c.8729G>A (p.Ser2910Asn)
|
rs769727126
|
0.00001
|
NM_001206927.2(DNAH8):c.877A>C (p.Asn293His)
|
rs971110651
|
0.00001
|
NM_001206927.2(DNAH8):c.8794C>T (p.Arg2932Cys)
|
rs367945482
|
0.00001
|
NM_001206927.2(DNAH8):c.8842C>T (p.Pro2948Ser)
|
rs980617815
|
0.00001
|
NM_001206927.2(DNAH8):c.9050C>T (p.Thr3017Ile)
|
rs776762950
|
0.00001
|
NM_001206927.2(DNAH8):c.931A>G (p.Arg311Gly)
|
rs781343452
|
0.00001
|
NM_001206927.2(DNAH8):c.9434C>G (p.Pro3145Arg)
|
rs747278340
|
0.00001
|
NM_001206927.2(DNAH8):c.958A>G (p.Arg320Gly)
|
rs757946681
|
0.00001
|
NM_001206927.2(DNAH8):c.9721T>C (p.Cys3241Arg)
|
rs1285827985
|
0.00001
|
NM_001206927.2(DNAH8):c.9749G>A (p.Arg3250Gln)
|
rs370474987
|
0.00001
|
NM_001206927.2(DNAH8):c.9793G>T (p.Gly3265Cys)
|
rs1060501471
|
0.00001
|
NM_001206927.2(DNAH8):c.9890C>G (p.Ser3297Cys)
|
rs768565947
|
0.00001
|
NM_001206927.2(DNAH8):c.9961G>A (p.Glu3321Lys)
|
rs200884766
|
0.00001
|
NM_001256715.2(DNAAF3):c.-3G>T
|
rs757302187
|
0.00001
|
NM_001256715.2(DNAAF3):c.1017C>A (p.His339Gln)
|
rs560113507
|
0.00001
|
NM_001256715.2(DNAAF3):c.1237C>T (p.Arg413Trp)
|
rs747247157
|
0.00001
|
NM_001256715.2(DNAAF3):c.132C>A (p.Asn44Lys)
|
rs929924324
|
0.00001
|
NM_001256715.2(DNAAF3):c.1372C>G (p.Gln458Glu)
|
rs754170208
|
0.00001
|
NM_001256715.2(DNAAF3):c.322G>A (p.Glu108Lys)
|
rs201688782
|
0.00001
|
NM_001256715.2(DNAAF3):c.491G>A (p.Arg164Gln)
|
rs771839338
|
0.00001
|
NM_001256715.2(DNAAF3):c.508G>T (p.Val170Leu)
|
rs761802279
|
0.00001
|
NM_001256715.2(DNAAF3):c.661G>A (p.Gly221Arg)
|
rs1302666486
|
0.00001
|
NM_001256715.2(DNAAF3):c.782T>C (p.Leu261Pro)
|
rs534298243
|
0.00001
|
NM_001256715.2(DNAAF3):c.820T>C (p.Trp274Arg)
|
rs749849022
|
0.00001
|
NM_001256715.2(DNAAF3):c.851C>A (p.Ala284Asp)
|
rs966788457
|
0.00001
|
NM_001256715.2(DNAAF3):c.904C>A (p.Pro302Thr)
|
rs920224734
|
0.00001
|
NM_001256715.2(DNAAF3):c.922G>A (p.Glu308Lys)
|
rs1026878171
|
0.00001
|
NM_001256715.2(DNAAF3):c.997G>T (p.Asp333Tyr)
|
rs571791610
|
0.00001
|
NM_001277115.2(DNAH11):c.10332+3A>G
|
rs774841011
|
0.00001
|
NM_001277115.2(DNAH11):c.10418T>C (p.Leu3473Pro)
|
rs1283113333
|
0.00001
|
NM_001277115.2(DNAH11):c.1045C>T (p.Leu349Phe)
|
rs1783576480
|
0.00001
|
NM_001277115.2(DNAH11):c.10737T>G (p.Phe3579Leu)
|
rs369261194
|
0.00001
|
NM_001277115.2(DNAH11):c.10761G>A (p.Leu3587=)
|
rs1467510424
|
0.00001
|
NM_001277115.2(DNAH11):c.10838A>G (p.Glu3613Gly)
|
rs1229352440
|
0.00001
|
NM_001277115.2(DNAH11):c.10876C>T (p.Pro3626Ser)
|
rs773883026
|
0.00001
|
NM_001277115.2(DNAH11):c.1102A>G (p.Ile368Val)
|
rs1035113303
|
0.00001
|
NM_001277115.2(DNAH11):c.11155A>G (p.Ile3719Val)
|
rs1213978269
|
0.00001
|
NM_001277115.2(DNAH11):c.11177A>T (p.Asn3726Ile)
|
rs1373207381
|
0.00001
|
NM_001277115.2(DNAH11):c.11327T>C (p.Leu3776Pro)
|
rs751761608
|
0.00001
|
NM_001277115.2(DNAH11):c.11344C>G (p.Leu3782Val)
|
rs780334924
|
0.00001
|
NM_001277115.2(DNAH11):c.11361G>T (p.Gln3787His)
|
rs747740981
|
0.00001
|
NM_001277115.2(DNAH11):c.11500A>G (p.Ile3834Val)
|
rs988953435
|
0.00001
|
NM_001277115.2(DNAH11):c.1177A>C (p.Asn393His)
|
rs374949958
|
0.00001
|
NM_001277115.2(DNAH11):c.11984C>T (p.Ala3995Val)
|
rs765575732
|
0.00001
|
NM_001277115.2(DNAH11):c.12046T>G (p.Tyr4016Asp)
|
rs747067327
|
0.00001
|
NM_001277115.2(DNAH11):c.12195+3A>G
|
rs763238523
|
0.00001
|
NM_001277115.2(DNAH11):c.12461G>A (p.Arg4154His)
|
rs375799557
|
0.00001
|
NM_001277115.2(DNAH11):c.12781A>G (p.Lys4261Glu)
|
rs1463277085
|
0.00001
|
NM_001277115.2(DNAH11):c.13303+3_13303+43dup
|
rs775161725
|
0.00001
|
NM_001277115.2(DNAH11):c.13469A>T (p.Tyr4490Phe)
|
rs1320072390
|
0.00001
|
NM_001277115.2(DNAH11):c.1710+3T>G
|
rs376968286
|
0.00001
|
NM_001277115.2(DNAH11):c.1973+6T>C
|
rs774830486
|
0.00001
|
NM_001277115.2(DNAH11):c.2597A>G (p.Lys866Arg)
|
rs1429419142
|
0.00001
|
NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln)
|
rs1178187217
|
0.00001
|
NM_001277115.2(DNAH11):c.3000+3A>G
|
rs781625159
|
0.00001
|
NM_001277115.2(DNAH11):c.314G>C (p.Ser105Thr)
|
rs755427308
|
0.00001
|
NM_001277115.2(DNAH11):c.3194A>G (p.Asp1065Gly)
|
rs1269889816
|
0.00001
|
NM_001277115.2(DNAH11):c.3852G>A (p.Lys1284=)
|
rs764336866
|
0.00001
|
NM_001277115.2(DNAH11):c.4065G>C (p.Gln1355His)
|
rs998146886
|
0.00001
|
NM_001277115.2(DNAH11):c.4095+3G>A
|
rs375356107
|
0.00001
|
NM_001277115.2(DNAH11):c.4218G>T (p.Arg1406Ser)
|
rs1016300664
|
0.00001
|
NM_001277115.2(DNAH11):c.4249A>T (p.Ile1417Phe)
|
rs1785849179
|
0.00001
|
NM_001277115.2(DNAH11):c.4678C>G (p.Leu1560Val)
|
rs878854443
|
0.00001
|
NM_001277115.2(DNAH11):c.4817+6A>C
|
rs1006884453
|
0.00001
|
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys)
|
rs727502967
|
0.00001
|
NM_001277115.2(DNAH11):c.496-20C>G
|
rs984692538
|
0.00001
|
NM_001277115.2(DNAH11):c.5475A>G (p.Gln1825=)
|
rs373354778
|
0.00001
|
NM_001277115.2(DNAH11):c.6180+3G>A
|
rs1418531861
|
0.00001
|
NM_001277115.2(DNAH11):c.6180+6G>A
|
rs770361540
|
0.00001
|
NM_001277115.2(DNAH11):c.6637C>T (p.Leu2213Phe)
|
rs1247578744
|
0.00001
|
NM_001277115.2(DNAH11):c.6650T>C (p.Ile2217Thr)
|
rs1373204477
|
0.00001
|
NM_001277115.2(DNAH11):c.6834+5A>G
|
rs920634147
|
0.00001
|
NM_001277115.2(DNAH11):c.6835G>A (p.Val2279Met)
|
rs766652102
|
0.00001
|
NM_001277115.2(DNAH11):c.6842C>A (p.Thr2281Asn)
|
rs886062179
|
0.00001
|
NM_001277115.2(DNAH11):c.6986A>G (p.Tyr2329Cys)
|
rs750881107
|
0.00001
|
NM_001277115.2(DNAH11):c.7021T>C (p.Ser2341Pro)
|
rs1784722405
|
0.00001
|
NM_001277115.2(DNAH11):c.7180C>G (p.Pro2394Ala)
|
rs1336741273
|
0.00001
|
NM_001277115.2(DNAH11):c.7266+8T>A
|
rs1486256470
|
0.00001
|
NM_001277115.2(DNAH11):c.7456A>G (p.Thr2486Ala)
|
rs752787517
|
0.00001
|
NM_001277115.2(DNAH11):c.7643A>G (p.Gln2548Arg)
|
rs757926745
|
0.00001
|
NM_001277115.2(DNAH11):c.7726G>A (p.Asp2576Asn)
|
rs1282090941
|
0.00001
|
NM_001277115.2(DNAH11):c.7916G>C (p.Arg2639Thr)
|
rs763451137
|
0.00001
|
NM_001277115.2(DNAH11):c.823C>G (p.Gln275Glu)
|
rs750255266
|
0.00001
|
NM_001277115.2(DNAH11):c.8627T>G (p.Val2876Gly)
|
rs753221223
|
0.00001
|
NM_001277115.2(DNAH11):c.8734C>G (p.Leu2912Val)
|
rs1583656768
|
0.00001
|
NM_001277115.2(DNAH11):c.8796A>C (p.Ser2932=)
|
rs771796985
|
0.00001
|
NM_001277115.2(DNAH11):c.8941-3C>T
|
rs771608078
|
0.00001
|
NM_001278293.3(ARL6):c.168G>C (p.Glu56Asp)
|
rs1295586318
|
0.00001
|
NM_001278293.3(ARL6):c.197C>T (p.Thr66Ile)
|
rs150667690
|
0.00001
|
NM_001278293.3(ARL6):c.226T>C (p.Tyr76His)
|
rs749599192
|
0.00001
|
NM_001278293.3(ARL6):c.307G>T (p.Val103Phe)
|
rs774150149
|
0.00001
|
NM_001278293.3(ARL6):c.317A>G (p.Lys106Arg)
|
rs2037383699
|
0.00001
|
NM_001278293.3(ARL6):c.344A>G (p.His115Arg)
|
rs1238121913
|
0.00001
|
NM_001278293.3(ARL6):c.361C>T (p.Arg121Cys)
|
rs202044896
|
0.00001
|
NM_001278293.3(ARL6):c.418T>C (p.Ser140Pro)
|
rs1463393274
|
0.00001
|
NM_001278293.3(ARL6):c.430T>C (p.Ser144Pro)
|
rs1418049586
|
0.00001
|
NM_001278293.3(ARL6):c.471G>C (p.Trp157Cys)
|
rs1559687672
|
0.00001
|
NM_001278293.3(ARL6):c.538C>T (p.Gln180Ter)
|
rs201105839
|
0.00001
|
NM_001278293.3(ARL6):c.550G>T (p.Val184Leu)
|
rs1389543975
|
0.00001
|
NM_001329943.3(KIAA0586):c.*10G>A
|
rs1280881561
|
0.00001
|
NM_001329943.3(KIAA0586):c.*24del
|
rs775748329
|
0.00001
|
NM_001329943.3(KIAA0586):c.1007C>G (p.Ser336Cys)
|
rs781781110
|
0.00001
|
NM_001329943.3(KIAA0586):c.103T>A (p.Leu35Met)
|
rs769423672
|
0.00001
|
NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile)
|
rs771000156
|
0.00001
|
NM_001329943.3(KIAA0586):c.1048_1049insACA (p.Pro350delinsHisThr)
|
rs1406399353
|
0.00001
|
NM_001329943.3(KIAA0586):c.1078A>T (p.Arg360Trp)
|
rs932782936
|
0.00001
|
NM_001329943.3(KIAA0586):c.1253+4A>G
|
rs1182604650
|
0.00001
|
NM_001329943.3(KIAA0586):c.1396G>A (p.Asp466Asn)
|
rs757196467
|
0.00001
|
NM_001329943.3(KIAA0586):c.1414G>A (p.Val472Ile)
|
rs779792778
|
0.00001
|
NM_001329943.3(KIAA0586):c.1516G>A (p.Glu506Lys)
|
rs746704306
|
0.00001
|
NM_001329943.3(KIAA0586):c.1528C>T (p.Arg510Cys)
|
rs778123212
|
0.00001
|
NM_001329943.3(KIAA0586):c.154C>T (p.Arg52Cys)
|
rs1445118511
|
0.00001
|
NM_001329943.3(KIAA0586):c.155G>A (p.Arg52His)
|
rs753917457
|
0.00001
|
NM_001329943.3(KIAA0586):c.1574C>G (p.Ser525Cys)
|
rs1173352052
|
0.00001
|
NM_001329943.3(KIAA0586):c.1588A>T (p.Met530Leu)
|
rs747120591
|
0.00001
|
NM_001329943.3(KIAA0586):c.1676A>G (p.Asp559Gly)
|
rs1020004939
|
0.00001
|
NM_001329943.3(KIAA0586):c.1738A>G (p.Lys580Glu)
|
rs1297075839
|
0.00001
|
NM_001329943.3(KIAA0586):c.1745T>C (p.Ile582Thr)
|
rs1039498791
|
0.00001
|
NM_001329943.3(KIAA0586):c.1918G>A (p.Glu640Lys)
|
rs1595193868
|
0.00001
|
NM_001329943.3(KIAA0586):c.1967G>A (p.Arg656Gln)
|
rs1047721846
|
0.00001
|
NM_001329943.3(KIAA0586):c.199+6T>A
|
rs764690540
|
0.00001
|
NM_001329943.3(KIAA0586):c.2051G>A (p.Arg684Gln)
|
rs547990270
|
0.00001
|
NM_001329943.3(KIAA0586):c.2092G>T (p.Asp698Tyr)
|
rs371583234
|
0.00001
|
NM_001329943.3(KIAA0586):c.2104A>G (p.Thr702Ala)
|
rs558410911
|
0.00001
|
NM_001329943.3(KIAA0586):c.2119A>G (p.Met707Val)
|
rs1200934389
|
0.00001
|
NM_001329943.3(KIAA0586):c.2123A>G (p.Asp708Gly)
|
rs373601253
|
0.00001
|
NM_001329943.3(KIAA0586):c.2228A>T (p.His743Leu)
|
rs1190897774
|
0.00001
|
NM_001329943.3(KIAA0586):c.2402T>A (p.Met801Lys)
|
rs1267499182
|
0.00001
|
NM_001329943.3(KIAA0586):c.2417A>G (p.Lys806Arg)
|
rs773759282
|
0.00001
|
NM_001329943.3(KIAA0586):c.2418G>C (p.Lys806Asn)
|
rs922088604
|
0.00001
|
NM_001329943.3(KIAA0586):c.245T>C (p.Leu82Ser)
|
rs955530356
|
0.00001
|
NM_001329943.3(KIAA0586):c.2511C>A (p.Ser837Arg)
|
rs377409718
|
0.00001
|
NM_001329943.3(KIAA0586):c.2533C>T (p.Pro845Ser)
|
rs377023593
|
0.00001
|
NM_001329943.3(KIAA0586):c.2629A>C (p.Ile877Leu)
|
rs1338718674
|
0.00001
|
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly)
|
rs770688785
|
0.00001
|
NM_001329943.3(KIAA0586):c.2719A>G (p.Asn907Asp)
|
rs1261333772
|
0.00001
|
NM_001329943.3(KIAA0586):c.2728C>T (p.Pro910Ser)
|
rs752882356
|
0.00001
|
NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln)
|
rs537951340
|
0.00001
|
NM_001329943.3(KIAA0586):c.2822A>T (p.Gln941Leu)
|
rs768032063
|
0.00001
|
NM_001329943.3(KIAA0586):c.2866T>C (p.Phe956Leu)
|
rs943207254
|
0.00001
|
NM_001329943.3(KIAA0586):c.2908G>A (p.Val970Ile)
|
rs368808852
|
0.00001
|
NM_001329943.3(KIAA0586):c.2938G>C (p.Asp980His)
|
rs754818478
|
0.00001
|
NM_001329943.3(KIAA0586):c.2947G>A (p.Glu983Lys)
|
rs563109987
|
0.00001
|
NM_001329943.3(KIAA0586):c.3143C>T (p.Pro1048Leu)
|
rs369859399
|
0.00001
|
NM_001329943.3(KIAA0586):c.3170C>T (p.Thr1057Ile)
|
rs772489368
|
0.00001
|
NM_001329943.3(KIAA0586):c.3205C>T (p.Pro1069Ser)
|
rs766060506
|
0.00001
|
NM_001329943.3(KIAA0586):c.3247C>T (p.Pro1083Ser)
|
rs373431045
|
0.00001
|
NM_001329943.3(KIAA0586):c.3325A>G (p.Met1109Val)
|
rs773159825
|
0.00001
|
NM_001329943.3(KIAA0586):c.3350C>A (p.Thr1117Asn)
|
rs758962196
|
0.00001
|
NM_001329943.3(KIAA0586):c.3391C>T (p.Pro1131Ser)
|
rs1413013409
|
0.00001
|
NM_001329943.3(KIAA0586):c.3404A>G (p.Asp1135Gly)
|
rs751729993
|
0.00001
|
NM_001329943.3(KIAA0586):c.3422T>C (p.Leu1141Ser)
|
rs755937342
|
0.00001
|
NM_001329943.3(KIAA0586):c.3450G>C (p.Lys1150Asn)
|
rs199517530
|
0.00001
|
NM_001329943.3(KIAA0586):c.3515A>T (p.His1172Leu)
|
rs1190269049
|
0.00001
|
NM_001329943.3(KIAA0586):c.3542C>G (p.Ala1181Gly)
|
rs910865335
|
0.00001
|
NM_001329943.3(KIAA0586):c.3599C>T (p.Pro1200Leu)
|
rs539304161
|
0.00001
|
NM_001329943.3(KIAA0586):c.3679G>C (p.Glu1227Gln)
|
rs560315226
|
0.00001
|
NM_001329943.3(KIAA0586):c.3715A>G (p.Thr1239Ala)
|
rs201889432
|
0.00001
|
NM_001329943.3(KIAA0586):c.3791A>T (p.Asp1264Val)
|
rs1223415414
|
0.00001
|
NM_001329943.3(KIAA0586):c.3797G>C (p.Gly1266Ala)
|
rs1256817386
|
0.00001
|
NM_001329943.3(KIAA0586):c.3857T>C (p.Met1286Thr)
|
rs1256644781
|
0.00001
|
NM_001329943.3(KIAA0586):c.3884A>G (p.Gln1295Arg)
|
rs1019828731
|
0.00001
|
NM_001329943.3(KIAA0586):c.3885A>C (p.Gln1295His)
|
rs779179754
|
0.00001
|
NM_001329943.3(KIAA0586):c.3910T>A (p.Phe1304Ile)
|
rs1441855459
|
0.00001
|
NM_001329943.3(KIAA0586):c.3914A>T (p.His1305Leu)
|
rs966912655
|
0.00001
|
NM_001329943.3(KIAA0586):c.3935T>C (p.Phe1312Ser)
|
rs912168236
|
0.00001
|
NM_001329943.3(KIAA0586):c.3G>A (p.Met1Ile)
|
rs775143643
|
0.00001
|
NM_001329943.3(KIAA0586):c.4060A>G (p.Ile1354Val)
|
rs1446993944
|
0.00001
|
NM_001329943.3(KIAA0586):c.4067T>C (p.Met1356Thr)
|
rs1188851321
|
0.00001
|
NM_001329943.3(KIAA0586):c.4094C>T (p.Pro1365Leu)
|
rs752429234
|
0.00001
|
NM_001329943.3(KIAA0586):c.4147C>T (p.Arg1383Trp)
|
rs1015444951
|
0.00001
|
NM_001329943.3(KIAA0586):c.419G>A (p.Ser140Asn)
|
rs754191741
|
0.00001
|
NM_001329943.3(KIAA0586):c.4496-3808A>C
|
rs181384924
|
0.00001
|
NM_001329943.3(KIAA0586):c.4512A>G (p.Pro1504=)
|
rs1476732636
|
0.00001
|
NM_001329943.3(KIAA0586):c.4572C>T (p.Leu1524=)
|
rs371910625
|
0.00001
|
NM_001329943.3(KIAA0586):c.484G>A (p.Val162Ile)
|
rs540188519
|
0.00001
|
NM_001329943.3(KIAA0586):c.52G>A (p.Val18Met)
|
rs1260723288
|
0.00001
|
NM_001329943.3(KIAA0586):c.556G>C (p.Ala186Pro)
|
rs758886732
|
0.00001
|
NM_001329943.3(KIAA0586):c.592A>C (p.Ser198Arg)
|
rs375374719
|
0.00001
|
NM_001329943.3(KIAA0586):c.668G>A (p.Arg223His)
|
rs779062959
|
0.00001
|
NM_001329943.3(KIAA0586):c.70G>T (p.Val24Leu)
|
rs780198735
|
0.00001
|
NM_001329943.3(KIAA0586):c.848A>G (p.Gln283Arg)
|
rs772425621
|
0.00001
|
NM_001329943.3(KIAA0586):c.868T>G (p.Ser290Ala)
|
rs1372486181
|
0.00001
|
NM_001329943.3(KIAA0586):c.881A>G (p.Glu294Gly)
|
rs765495285
|
0.00001
|
NM_001329943.3(KIAA0586):c.892G>A (p.Val298Ile)
|
rs751564059
|
0.00001
|
NM_001329943.3(KIAA0586):c.956A>G (p.Lys319Arg)
|
rs1297972335
|
0.00001
|
NM_001364171.2(ODAD1):c.1108G>T (p.Asp370Tyr)
|
rs900428958
|
0.00001
|
NM_001364171.2(ODAD1):c.1120T>G (p.Leu374Val)
|
rs772352412
|
0.00001
|
NM_001364171.2(ODAD1):c.1166A>G (p.Lys389Arg)
|
rs199792051
|
0.00001
|
NM_001364171.2(ODAD1):c.1192G>A (p.Glu398Lys)
|
rs1462057746
|
0.00001
|
NM_001364171.2(ODAD1):c.1210G>A (p.Val404Met)
|
rs1453033038
|
0.00001
|
NM_001364171.2(ODAD1):c.127C>T (p.Arg43Trp)
|
rs1214771019
|
0.00001
|
NM_001364171.2(ODAD1):c.1361G>A (p.Arg454Gln)
|
rs765660029
|
0.00001
|
NM_001364171.2(ODAD1):c.1462C>T (p.Leu488Phe)
|
rs1445643020
|
0.00001
|
NM_001364171.2(ODAD1):c.154C>T (p.Arg52Cys)
|
rs754968402
|
0.00001
|
NM_001364171.2(ODAD1):c.1600G>A (p.Ala534Thr)
|
rs761328296
|
0.00001
|
NM_001364171.2(ODAD1):c.1673C>T (p.Ala558Val)
|
rs1206811360
|
0.00001
|
NM_001364171.2(ODAD1):c.170+3G>C
|
rs1968966704
|
0.00001
|
NM_001364171.2(ODAD1):c.1889C>T (p.Ala630Val)
|
rs147527014
|
0.00001
|
NM_001364171.2(ODAD1):c.1906G>A (p.Val636Met)
|
rs750861527
|
0.00001
|
NM_001364171.2(ODAD1):c.1932C>G (p.Ser644Arg)
|
rs773108289
|
0.00001
|
NM_001364171.2(ODAD1):c.1934G>C (p.Ser645Thr)
|
rs139193954
|
0.00001
|
NM_001364171.2(ODAD1):c.2004dup (p.Gly669fs)
|
rs745526849
|
0.00001
|
NM_001364171.2(ODAD1):c.2029G>A (p.Gly677Arg)
|
rs771734792
|
0.00001
|
NM_001364171.2(ODAD1):c.2038G>A (p.Gly680Arg)
|
rs757626365
|
0.00001
|
NM_001364171.2(ODAD1):c.278T>G (p.Met93Arg)
|
rs960251356
|
0.00001
|
NM_001364171.2(ODAD1):c.314C>T (p.Ala105Val)
|
rs1402875362
|
0.00001
|
NM_001364171.2(ODAD1):c.413C>T (p.Pro138Leu)
|
rs527907938
|
0.00001
|
NM_001364171.2(ODAD1):c.425T>C (p.Leu142Pro)
|
rs146960725
|
0.00001
|
NM_001364171.2(ODAD1):c.467A>G (p.Glu156Gly)
|
rs1281163225
|
0.00001
|
NM_001364171.2(ODAD1):c.482G>A (p.Arg161Lys)
|
rs1449020201
|
0.00001
|
NM_001364171.2(ODAD1):c.507G>C (p.Gln169His)
|
rs1469941166
|
0.00001
|
NM_001364171.2(ODAD1):c.521C>T (p.Ala174Val)
|
rs868114984
|
0.00001
|
NM_001364171.2(ODAD1):c.550C>T (p.Arg184Trp)
|
rs534421243
|
0.00001
|
NM_001364171.2(ODAD1):c.627C>G (p.Ser209Arg)
|
rs919043631
|
0.00001
|
NM_001364171.2(ODAD1):c.658G>A (p.Ala220Thr)
|
rs773209379
|
0.00001
|
NM_001364171.2(ODAD1):c.698G>A (p.Arg233Gln)
|
rs199960441
|
0.00001
|
NM_001364171.2(ODAD1):c.818C>T (p.Pro273Leu)
|
rs760482173
|
0.00001
|
NM_001364171.2(ODAD1):c.844G>C (p.Glu282Gln)
|
rs866968571
|
0.00001
|
NM_001364171.2(ODAD1):c.919G>T (p.Ala307Ser)
|
rs772349661
|
0.00001
|
NM_001364171.2(ODAD1):c.945G>T (p.Met315Ile)
|
rs746835308
|
0.00001
|
NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val)
|
rs751746139
|
0.00001
|
NM_001369.3(DNAH5):c.10186G>A (p.Ala3396Thr)
|
rs1751970470
|
0.00001
|
NM_001369.3(DNAH5):c.10262A>G (p.Lys3421Arg)
|
rs1751957147
|
0.00001
|
NM_001369.3(DNAH5):c.10375G>T (p.Asp3459Tyr)
|
rs751500950
|
0.00001
|
NM_001369.3(DNAH5):c.10458G>A (p.Met3486Ile)
|
rs376253368
|
0.00001
|
NM_001369.3(DNAH5):c.11237T>C (p.Leu3746Pro)
|
rs373741309
|
0.00001
|
NM_001369.3(DNAH5):c.11377G>A (p.Glu3793Lys)
|
rs751996726
|
0.00001
|
NM_001369.3(DNAH5):c.113A>G (p.Asn38Ser)
|
rs1163468590
|
0.00001
|
NM_001369.3(DNAH5):c.11401A>G (p.Ile3801Val)
|
rs750831635
|
0.00001
|
NM_001369.3(DNAH5):c.11414C>A (p.Thr3805Lys)
|
rs1554027892
|
0.00001
|
NM_001369.3(DNAH5):c.11506G>T (p.Val3836Phe)
|
rs201068342
|
0.00001
|
NM_001369.3(DNAH5):c.11519A>G (p.Tyr3840Cys)
|
rs761555252
|
0.00001
|
NM_001369.3(DNAH5):c.1165A>G (p.Thr389Ala)
|
rs1305527957
|
0.00001
|
NM_001369.3(DNAH5):c.116A>G (p.Tyr39Cys)
|
rs1469239990
|
0.00001
|
NM_001369.3(DNAH5):c.11755A>T (p.Ile3919Phe)
|
rs1268213717
|
0.00001
|
NM_001369.3(DNAH5):c.11869G>A (p.Asp3957Asn)
|
rs749548708
|
0.00001
|
NM_001369.3(DNAH5):c.11883G>A (p.Gln3961=)
|
rs1470925950
|
0.00001
|
NM_001369.3(DNAH5):c.12033+4A>G
|
rs746256175
|
0.00001
|
NM_001369.3(DNAH5):c.12034G>C (p.Ala4012Pro)
|
rs747828322
|
0.00001
|
NM_001369.3(DNAH5):c.12128C>T (p.Thr4043Met)
|
rs529288295
|
0.00001
|
NM_001369.3(DNAH5):c.12368A>G (p.His4123Arg)
|
rs1218242577
|
0.00001
|
NM_001369.3(DNAH5):c.12437C>T (p.Ser4146Phe)
|
rs750170721
|
0.00001
|
NM_001369.3(DNAH5):c.12574C>A (p.His4192Asn)
|
rs748199626
|
0.00001
|
NM_001369.3(DNAH5):c.12631G>A (p.Glu4211Lys)
|
rs762673561
|
0.00001
|
NM_001369.3(DNAH5):c.12772G>A (p.Asp4258Asn)
|
rs1354484933
|
0.00001
|
NM_001369.3(DNAH5):c.12958G>A (p.Ala4320Thr)
|
rs377316131
|
0.00001
|
NM_001369.3(DNAH5):c.13054C>T (p.Arg4352Trp)
|
rs530188302
|
0.00001
|
NM_001369.3(DNAH5):c.13227C>A (p.Ser4409Arg)
|
rs139357559
|
0.00001
|
NM_001369.3(DNAH5):c.13540T>C (p.Cys4514Arg)
|
rs916403814
|
0.00001
|
NM_001369.3(DNAH5):c.13699A>G (p.Ile4567Val)
|
rs761546028
|
0.00001
|
NM_001369.3(DNAH5):c.13736C>T (p.Pro4579Leu)
|
rs774527322
|
0.00001
|
NM_001369.3(DNAH5):c.1465A>G (p.Thr489Ala)
|
rs779916415
|
0.00001
|
NM_001369.3(DNAH5):c.1502T>C (p.Ile501Thr)
|
rs746819760
|
0.00001
|
NM_001369.3(DNAH5):c.2417C>T (p.Thr806Ile)
|
rs766649400
|
0.00001
|
NM_001369.3(DNAH5):c.2488G>A (p.Ala830Thr)
|
rs372432790
|
0.00001
|
NM_001369.3(DNAH5):c.275C>T (p.Thr92Ile)
|
rs765566079
|
0.00001
|
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg)
|
rs1428534050
|
0.00001
|
NM_001369.3(DNAH5):c.3031C>T (p.Arg1011Trp)
|
rs928800148
|
0.00001
|
NM_001369.3(DNAH5):c.3043A>G (p.Thr1015Ala)
|
rs756780275
|
0.00001
|
NM_001369.3(DNAH5):c.3154A>C (p.Ser1052Arg)
|
rs367835771
|
0.00001
|
NM_001369.3(DNAH5):c.3236T>C (p.Val1079Ala)
|
rs1771847921
|
0.00001
|
NM_001369.3(DNAH5):c.3314A>G (p.Asn1105Ser)
|
rs371783309
|
0.00001
|
NM_001369.3(DNAH5):c.3560C>G (p.Pro1187Arg)
|
rs1415125422
|
0.00001
|
NM_001369.3(DNAH5):c.3736C>T (p.Pro1246Ser)
|
rs1769992971
|
0.00001
|
NM_001369.3(DNAH5):c.3792G>C (p.Arg1264Ser)
|
rs769589158
|
0.00001
|
NM_001369.3(DNAH5):c.4295T>C (p.Ile1432Thr)
|
rs753029826
|
0.00001
|
NM_001369.3(DNAH5):c.4524T>G (p.Asp1508Glu)
|
rs1268555395
|
0.00001
|
NM_001369.3(DNAH5):c.4613C>T (p.Ala1538Val)
|
rs201165908
|
0.00001
|
NM_001369.3(DNAH5):c.4747G>A (p.Ala1583Thr)
|
rs374072143
|
0.00001
|
NM_001369.3(DNAH5):c.4787T>G (p.Leu1596Arg)
|
rs1242688686
|
0.00001
|
NM_001369.3(DNAH5):c.5009A>G (p.His1670Arg)
|
rs970902714
|
0.00001
|
NM_001369.3(DNAH5):c.5056G>A (p.Gly1686Arg)
|
rs1385680717
|
0.00001
|
NM_001369.3(DNAH5):c.5171C>T (p.Ala1724Val)
|
rs1354561021
|
0.00001
|
NM_001369.3(DNAH5):c.5476C>G (p.Pro1826Ala)
|
rs928564123
|
0.00001
|
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)
|
rs761622153
|
0.00001
|
NM_001369.3(DNAH5):c.5518C>T (p.Arg1840Trp)
|
rs760640325
|
0.00001
|
NM_001369.3(DNAH5):c.5585C>T (p.Ala1862Val)
|
rs1256145306
|
0.00001
|
NM_001369.3(DNAH5):c.5603A>G (p.Asn1868Ser)
|
rs945907926
|
0.00001
|
NM_001369.3(DNAH5):c.560A>T (p.Glu187Val)
|
rs1214362304
|
0.00001
|
NM_001369.3(DNAH5):c.5632C>G (p.Leu1878Val)
|
rs1561401862
|
0.00001
|
NM_001369.3(DNAH5):c.565C>G (p.Leu189Val)
|
rs1344395624
|
0.00001
|
NM_001369.3(DNAH5):c.5705A>G (p.Asp1902Gly)
|
rs776748041
|
0.00001
|
NM_001369.3(DNAH5):c.5762G>A (p.Arg1921Lys)
|
rs1331052558
|
0.00001
|
NM_001369.3(DNAH5):c.5830A>C (p.Asn1944His)
|
rs906638785
|
0.00001
|
NM_001369.3(DNAH5):c.5849C>T (p.Thr1950Ile)
|
rs1060501465
|
0.00001
|
NM_001369.3(DNAH5):c.5923G>C (p.Gly1975Arg)
|
rs752901859
|
0.00001
|
NM_001369.3(DNAH5):c.6004G>A (p.Val2002Met)
|
rs148279547
|
0.00001
|
NM_001369.3(DNAH5):c.6413A>G (p.Tyr2138Cys)
|
rs769252635
|
0.00001
|
NM_001369.3(DNAH5):c.6544A>G (p.Met2182Val)
|
rs778507942
|
0.00001
|
NM_001369.3(DNAH5):c.6575A>G (p.Lys2192Arg)
|
rs1004296804
|
0.00001
|
NM_001369.3(DNAH5):c.661G>A (p.Val221Met)
|
rs1085307485
|
0.00001
|
NM_001369.3(DNAH5):c.6764G>A (p.Arg2255Gln)
|
rs1317585354
|
0.00001
|
NM_001369.3(DNAH5):c.6902T>C (p.Met2301Thr)
|
rs778689094
|
0.00001
|
NM_001369.3(DNAH5):c.6932A>C (p.Asp2311Ala)
|
rs754787543
|
0.00001
|
NM_001369.3(DNAH5):c.6991G>C (p.Glu2331Gln)
|
rs1349321210
|
0.00001
|
NM_001369.3(DNAH5):c.7106T>C (p.Met2369Thr)
|
rs144867885
|
0.00001
|
NM_001369.3(DNAH5):c.7109C>T (p.Ala2370Val)
|
rs776056472
|
0.00001
|
NM_001369.3(DNAH5):c.7151A>G (p.Asn2384Ser)
|
rs777962194
|
0.00001
|
NM_001369.3(DNAH5):c.7196G>A (p.Ser2399Asn)
|
rs550329660
|
0.00001
|
NM_001369.3(DNAH5):c.7511T>C (p.Leu2504Pro)
|
rs1344694038
|
0.00001
|
NM_001369.3(DNAH5):c.7537A>T (p.Thr2513Ser)
|
rs376433526
|
0.00001
|
NM_001369.3(DNAH5):c.7831T>C (p.Cys2611Arg)
|
rs377481206
|
0.00001
|
NM_001369.3(DNAH5):c.8005G>T (p.Asp2669Tyr)
|
rs773280167
|
0.00001
|
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr)
|
rs746501395
|
0.00001
|
NM_001369.3(DNAH5):c.8315G>A (p.Arg2772Gln)
|
rs755210201
|
0.00001
|
NM_001369.3(DNAH5):c.8353C>T (p.Pro2785Ser)
|
rs1167219863
|
0.00001
|
NM_001369.3(DNAH5):c.8564T>C (p.Phe2855Ser)
|
rs1181279694
|
0.00001
|
NM_001369.3(DNAH5):c.860T>A (p.Leu287Gln)
|
rs1177184350
|
0.00001
|
NM_001369.3(DNAH5):c.8698A>G (p.Ile2900Val)
|
rs747438706
|
0.00001
|
NM_001369.3(DNAH5):c.8777T>C (p.Met2926Thr)
|
rs372071561
|
0.00001
|
NM_001369.3(DNAH5):c.9001A>G (p.Thr3001Ala)
|
rs780283468
|
0.00001
|
NM_001369.3(DNAH5):c.9229C>T (p.Arg3077Trp)
|
rs1426289211
|
0.00001
|
NM_001369.3(DNAH5):c.9266C>T (p.Ser3089Leu)
|
rs759831156
|
0.00001
|
NM_001369.3(DNAH5):c.9287G>A (p.Arg3096Gln)
|
rs1388732051
|
0.00001
|
NM_001369.3(DNAH5):c.9301A>C (p.Lys3101Gln)
|
rs371436275
|
0.00001
|
NM_001369.3(DNAH5):c.9317T>C (p.Ile3106Thr)
|
rs778312386
|
0.00001
|
NM_001369.3(DNAH5):c.9544A>C (p.Ile3182Leu)
|
rs951528702
|
0.00001
|
NM_001369.3(DNAH5):c.9649G>A (p.Val3217Ile)
|
rs1753033779
|
0.00001
|
NM_001369.3(DNAH5):c.9760A>C (p.Lys3254Gln)
|
rs765104542
|
0.00001
|
NM_001369.3(DNAH5):c.9823A>G (p.Lys3275Glu)
|
rs1172460177
|
0.00001
|
NM_001375405.1(CEP120):c.1081C>T (p.His361Tyr)
|
rs1409356450
|
0.00001
|
NM_001375405.1(CEP120):c.121A>G (p.Thr41Ala)
|
rs1774507881
|
0.00001
|
NM_001375405.1(CEP120):c.160A>G (p.Thr54Ala)
|
rs1452117593
|
0.00001
|
NM_001375405.1(CEP120):c.16G>T (p.Asp6Tyr)
|
rs531662259
|
0.00001
|
NM_001375405.1(CEP120):c.1831C>T (p.Arg611Cys)
|
rs150132498
|
0.00001
|
NM_001375405.1(CEP120):c.1946T>C (p.Leu649Ser)
|
rs773146730
|
0.00001
|
NM_001375405.1(CEP120):c.1990C>A (p.Gln664Lys)
|
rs749655305
|
0.00001
|
NM_001375405.1(CEP120):c.1A>G (p.Met1Val)
|
rs1486546438
|
0.00001
|
NM_001375405.1(CEP120):c.2333A>G (p.Glu778Gly)
|
rs200477463
|
0.00001
|
NM_001375405.1(CEP120):c.2443C>T (p.Arg815Cys)
|
rs757166785
|
0.00001
|
NM_001375405.1(CEP120):c.253G>A (p.Val85Ile)
|
rs1255595388
|
0.00001
|
NM_001375405.1(CEP120):c.2785A>C (p.Lys929Gln)
|
rs1768847284
|
0.00001
|
NM_001375405.1(CEP120):c.508G>C (p.Val170Leu)
|
rs756502328
|
0.00001
|
NM_001375405.1(CEP120):c.623G>A (p.Cys208Tyr)
|
rs370960719
|
0.00001
|
NM_001375405.1(CEP120):c.802A>G (p.Lys268Glu)
|
rs1421931952
|
0.00001
|
NM_001375405.1(CEP120):c.916G>A (p.Glu306Lys)
|
rs777630050
|
0.00001
|
NM_001375405.1(CEP120):c.922G>C (p.Ala308Pro)
|
rs772046806
|
0.00001
|
NM_001375405.1(CEP120):c.980A>C (p.Glu327Ala)
|
rs1304562610
|
0.00001
|
NM_001375405.1(CEP120):c.991A>G (p.Thr331Ala)
|
rs372144017
|
0.00001
|
NM_001377.3(DYNC2H1):c.10156A>G (p.Ile3386Val)
|
rs765753338
|
0.00001
|
NM_001377.3(DYNC2H1):c.10241A>G (p.Asp3414Gly)
|
rs1427712341
|
0.00001
|
NM_001377.3(DYNC2H1):c.10500C>T (p.Ser3500=)
|
rs1409372884
|
0.00001
|
NM_001377.3(DYNC2H1):c.10586G>A (p.Arg3529Gln)
|
rs753895545
|
0.00001
|
NM_001377.3(DYNC2H1):c.10662G>A (p.Met3554Ile)
|
rs1453829346
|
0.00001
|
NM_001377.3(DYNC2H1):c.1069T>C (p.Cys357Arg)
|
rs1235977629
|
0.00001
|
NM_001377.3(DYNC2H1):c.10844C>T (p.Pro3615Leu)
|
rs1468117934
|
0.00001
|
NM_001377.3(DYNC2H1):c.11310T>G (p.Cys3770Trp)
|
rs771899759
|
0.00001
|
NM_001377.3(DYNC2H1):c.11603C>G (p.Ala3868Gly)
|
rs1213780831
|
0.00001
|
NM_001377.3(DYNC2H1):c.11714G>A (p.Arg3905Lys)
|
rs367559900
|
0.00001
|
NM_001377.3(DYNC2H1):c.12766-4A>G
|
rs764918619
|
0.00001
|
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu)
|
rs770569272
|
0.00001
|
NM_001377.3(DYNC2H1):c.12924G>C (p.Ter4308Tyr)
|
rs199566086
|
0.00001
|
NM_001377.3(DYNC2H1):c.1385G>A (p.Arg462Gln)
|
rs772239748
|
0.00001
|
NM_001377.3(DYNC2H1):c.1604T>C (p.Phe535Ser)
|
rs1238325809
|
0.00001
|
NM_001377.3(DYNC2H1):c.1715A>T (p.Lys572Ile)
|
rs190861340
|
0.00001
|
NM_001377.3(DYNC2H1):c.196-6C>G
|
rs1252539726
|
0.00001
|
NM_001377.3(DYNC2H1):c.1967G>A (p.Gly656Glu)
|
rs1859382317
|
0.00001
|
NM_001377.3(DYNC2H1):c.2142G>C (p.Gln714His)
|
rs182352825
|
0.00001
|
NM_001377.3(DYNC2H1):c.2920A>G (p.Ser974Gly)
|
rs775896895
|
0.00001
|
NM_001377.3(DYNC2H1):c.2996C>T (p.Thr999Ile)
|
rs753542063
|
0.00001
|
NM_001377.3(DYNC2H1):c.2del (p.Met1fs)
|
rs752782000
|
0.00001
|
NM_001377.3(DYNC2H1):c.3337A>G (p.Asn1113Asp)
|
rs1425616959
|
0.00001
|
NM_001377.3(DYNC2H1):c.3458G>A (p.Arg1153Gln)
|
rs869312924
|
0.00001
|
NM_001377.3(DYNC2H1):c.3574A>G (p.Ile1192Val)
|
rs1421509501
|
0.00001
|
NM_001377.3(DYNC2H1):c.3793C>T (p.Arg1265Cys)
|
rs576131731
|
0.00001
|
NM_001377.3(DYNC2H1):c.4295T>C (p.Ile1432Thr)
|
rs776944417
|
0.00001
|
NM_001377.3(DYNC2H1):c.4369C>A (p.Leu1457Ile)
|
rs778829457
|
0.00001
|
NM_001377.3(DYNC2H1):c.439A>G (p.Ile147Val)
|
rs915084265
|
0.00001
|
NM_001377.3(DYNC2H1):c.4491+5G>A
|
rs749681136
|
0.00001
|
NM_001377.3(DYNC2H1):c.466T>A (p.Leu156Ile)
|
rs765931519
|
0.00001
|
NM_001377.3(DYNC2H1):c.503-3T>C
|
rs368561058
|
0.00001
|
NM_001377.3(DYNC2H1):c.5134G>C (p.Val1712Leu)
|
rs1861515366
|
0.00001
|
NM_001377.3(DYNC2H1):c.54G>T (p.Gln18His)
|
rs762801465
|
0.00001
|
NM_001377.3(DYNC2H1):c.5512G>A (p.Ala1838Thr)
|
rs777912444
|
0.00001
|
NM_001377.3(DYNC2H1):c.5690T>C (p.Ile1897Thr)
|
rs141509896
|
0.00001
|
NM_001377.3(DYNC2H1):c.5855A>T (p.Tyr1952Phe)
|
rs756750628
|
0.00001
|
NM_001377.3(DYNC2H1):c.6051A>G (p.Gln2017=)
|
rs1261404836
|
0.00001
|
NM_001377.3(DYNC2H1):c.6299G>A (p.Ser2100Asn)
|
rs780161589
|
0.00001
|
NM_001377.3(DYNC2H1):c.6667T>A (p.Phe2223Ile)
|
rs191633349
|
0.00001
|
NM_001377.3(DYNC2H1):c.6676C>T (p.Pro2226Ser)
|
rs912686507
|
0.00001
|
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly)
|
rs1555062849
|
0.00001
|
NM_001377.3(DYNC2H1):c.7607G>A (p.Arg2536His)
|
rs376790555
|
0.00001
|
NM_001377.3(DYNC2H1):c.7839+6A>G
|
rs1432491048
|
0.00001
|
NM_001377.3(DYNC2H1):c.7942G>A (p.Gly2648Arg)
|
rs1486830954
|
0.00001
|
NM_001377.3(DYNC2H1):c.8457A>G (p.Ile2819Met)
|
rs1060501431
|
0.00001
|
NM_001377.3(DYNC2H1):c.8513G>A (p.Arg2838Gln)
|
rs766069993
|
0.00001
|
NM_001377.3(DYNC2H1):c.8621C>T (p.Thr2874Ile)
|
rs1274718345
|
0.00001
|
NM_001377.3(DYNC2H1):c.8692C>G (p.Gln2898Glu)
|
rs1158593749
|
0.00001
|
NM_001377.3(DYNC2H1):c.8719G>A (p.Ala2907Thr)
|
rs1863353530
|
0.00001
|
NM_001377.3(DYNC2H1):c.9391G>A (p.Glu3131Lys)
|
rs983700534
|
0.00001
|
NM_001377.3(DYNC2H1):c.9577A>G (p.Ile3193Val)
|
rs886047571
|
0.00001
|
NM_001378454.1(ALMS1):c.10004G>T (p.Gly3335Val)
|
rs1344858585
|
0.00001
|
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg)
|
rs746923506
|
0.00001
|
NM_001378454.1(ALMS1):c.10070A>G (p.Glu3357Gly)
|
rs776497929
|
0.00001
|
NM_001378454.1(ALMS1):c.10148G>A (p.Ser3383Asn)
|
rs1553416873
|
0.00001
|
NM_001378454.1(ALMS1):c.10169C>T (p.Ala3390Val)
|
rs905527689
|
0.00001
|
NM_001378454.1(ALMS1):c.10186A>G (p.Lys3396Glu)
|
rs1473998334
|
0.00001
|
NM_001378454.1(ALMS1):c.10212A>G (p.Ala3404=)
|
rs755401614
|
0.00001
|
NM_001378454.1(ALMS1):c.10214A>T (p.Asp3405Val)
|
rs781411724
|
0.00001
|
NM_001378454.1(ALMS1):c.10217C>G (p.Ser3406Cys)
|
rs1279080725
|
0.00001
|
NM_001378454.1(ALMS1):c.10264G>C (p.Glu3422Gln)
|
rs1003992652
|
0.00001
|
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)
|
rs746702722
|
0.00001
|
NM_001378454.1(ALMS1):c.10338G>T (p.Glu3446Asp)
|
rs928444733
|
0.00001
|
NM_001378454.1(ALMS1):c.10384+6G>A
|
rs1343830351
|
0.00001
|
NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro)
|
rs955371491
|
0.00001
|
NM_001378454.1(ALMS1):c.10420C>T (p.Arg3474Cys)
|
rs759337193
|
0.00001
|
NM_001378454.1(ALMS1):c.10433G>A (p.Arg3478Lys)
|
rs893973875
|
0.00001
|
NM_001378454.1(ALMS1):c.10476T>G (p.Ser3492Arg)
|
rs1433521854
|
0.00001
|
NM_001378454.1(ALMS1):c.10493A>G (p.His3498Arg)
|
rs759463622
|
0.00001
|
NM_001378454.1(ALMS1):c.10526A>G (p.His3509Arg)
|
rs1674949532
|
0.00001
|
NM_001378454.1(ALMS1):c.10527T>G (p.His3509Gln)
|
rs1332733899
|
0.00001
|
NM_001378454.1(ALMS1):c.1052G>A (p.Arg351Gln)
|
rs563989825
|
0.00001
|
NM_001378454.1(ALMS1):c.10545T>A (p.Phe3515Leu)
|
rs750147146
|
0.00001
|
NM_001378454.1(ALMS1):c.10573C>T (p.His3525Tyr)
|
rs778304579
|
0.00001
|
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys)
|
rs761771973
|
0.00001
|
NM_001378454.1(ALMS1):c.10635A>G (p.Ile3545Met)
|
rs760321819
|
0.00001
|
NM_001378454.1(ALMS1):c.10723G>A (p.Gly3575Arg)
|
rs752099349
|
0.00001
|
NM_001378454.1(ALMS1):c.10738C>G (p.Pro3580Ala)
|
rs746126446
|
0.00001
|
NM_001378454.1(ALMS1):c.10772C>A (p.Thr3591Lys)
|
rs773091397
|
0.00001
|
NM_001378454.1(ALMS1):c.10856A>G (p.Asp3619Gly)
|
rs779029779
|
0.00001
|
NM_001378454.1(ALMS1):c.10862A>G (p.Lys3621Arg)
|
rs1288339942
|
0.00001
|
NM_001378454.1(ALMS1):c.10883G>A (p.Arg3628Gln)
|
rs763549947
|
0.00001
|
NM_001378454.1(ALMS1):c.1096C>G (p.Gln366Glu)
|
rs887270267
|
0.00001
|
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln)
|
rs781344338
|
0.00001
|
NM_001378454.1(ALMS1):c.11071G>A (p.Glu3691Lys)
|
rs750422041
|
0.00001
|
NM_001378454.1(ALMS1):c.11105G>A (p.Arg3702Gln)
|
rs188864796
|
0.00001
|
NM_001378454.1(ALMS1):c.11116T>A (p.Ser3706Thr)
|
rs749624694
|
0.00001
|
NM_001378454.1(ALMS1):c.11143A>G (p.Lys3715Glu)
|
rs765505349
|
0.00001
|
NM_001378454.1(ALMS1):c.11192G>A (p.Ser3731Asn)
|
rs756136080
|
0.00001
|
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu)
|
rs367877017
|
0.00001
|
NM_001378454.1(ALMS1):c.11219C>T (p.Ser3740Leu)
|
rs948097402
|
0.00001
|
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser)
|
rs376750978
|
0.00001
|
NM_001378454.1(ALMS1):c.1127C>G (p.Thr376Ser)
|
rs762682178
|
0.00001
|
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys)
|
rs1243181452
|
0.00001
|
NM_001378454.1(ALMS1):c.11393G>A (p.Arg3798Lys)
|
rs1006564458
|
0.00001
|
NM_001378454.1(ALMS1):c.11401T>A (p.Leu3801Met)
|
rs780494417
|
0.00001
|
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp)
|
rs17848868
|
0.00001
|
NM_001378454.1(ALMS1):c.11468G>A (p.Arg3823Gln)
|
rs377572047
|
0.00001
|
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg)
|
rs371105298
|
0.00001
|
NM_001378454.1(ALMS1):c.11492T>G (p.Leu3831Arg)
|
rs777912782
|
0.00001
|
NM_001378454.1(ALMS1):c.11516C>T (p.Thr3839Ile)
|
rs376255515
|
0.00001
|
NM_001378454.1(ALMS1):c.11547+4C>T
|
rs753353269
|
0.00001
|
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn)
|
rs767078704
|
0.00001
|
NM_001378454.1(ALMS1):c.11554A>T (p.Asn3852Tyr)
|
rs753182165
|
0.00001
|
NM_001378454.1(ALMS1):c.11663A>G (p.Gln3888Arg)
|
rs1675626491
|
0.00001
|
NM_001378454.1(ALMS1):c.11705C>G (p.Thr3902Ser)
|
rs369008610
|
0.00001
|
NM_001378454.1(ALMS1):c.11728C>G (p.Pro3910Ala)
|
rs761099182
|
0.00001
|
NM_001378454.1(ALMS1):c.11737A>C (p.Ser3913Arg)
|
rs776963509
|
0.00001
|
NM_001378454.1(ALMS1):c.11764A>G (p.Asn3922Asp)
|
rs45486496
|
0.00001
|
NM_001378454.1(ALMS1):c.11797C>T (p.Arg3933Cys)
|
rs1356118595
|
0.00001
|
NM_001378454.1(ALMS1):c.11867A>T (p.His3956Leu)
|
rs553786370
|
0.00001
|
NM_001378454.1(ALMS1):c.11871A>C (p.Glu3957Asp)
|
rs1205653574
|
0.00001
|
NM_001378454.1(ALMS1):c.11929G>A (p.Val3977Met)
|
rs185423930
|
0.00001
|
NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp)
|
rs199989044
|
0.00001
|
NM_001378454.1(ALMS1):c.12117A>C (p.Glu4039Asp)
|
rs1016477755
|
0.00001
|
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln)
|
rs752714698
|
0.00001
|
NM_001378454.1(ALMS1):c.12208A>C (p.Ser4070Arg)
|
rs1306398275
|
0.00001
|
NM_001378454.1(ALMS1):c.12217C>A (p.Gln4073Lys)
|
rs774835325
|
0.00001
|
NM_001378454.1(ALMS1):c.12221C>G (p.Thr4074Ser)
|
rs762223937
|
0.00001
|
NM_001378454.1(ALMS1):c.12256C>T (p.Arg4086Trp)
|
rs779618627
|
0.00001
|
NM_001378454.1(ALMS1):c.12280T>C (p.Cys4094Arg)
|
rs1280037324
|
0.00001
|
NM_001378454.1(ALMS1):c.12295A>G (p.Arg4099Gly)
|
rs1057524885
|
0.00001
|
NM_001378454.1(ALMS1):c.122T>C (p.Val41Ala)
|
rs1558624684
|
0.00001
|
NM_001378454.1(ALMS1):c.12312C>G (p.Ile4104Met)
|
rs761844893
|
0.00001
|
NM_001378454.1(ALMS1):c.12355T>G (p.Ser4119Ala)
|
rs372734481
|
0.00001
|
NM_001378454.1(ALMS1):c.1235C>T (p.Thr412Ile)
|
rs369637082
|
0.00001
|
NM_001378454.1(ALMS1):c.12362+5G>C
|
rs771226996
|
0.00001
|
NM_001378454.1(ALMS1):c.12367T>G (p.Tyr4123Asp)
|
rs963466695
|
0.00001
|
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys)
|
rs775032572
|
0.00001
|
NM_001378454.1(ALMS1):c.12436C>T (p.Arg4146Trp)
|
rs763519566
|
0.00001
|
NM_001378454.1(ALMS1):c.12466G>T (p.Val4156Leu)
|
rs779259646
|
0.00001
|
NM_001378454.1(ALMS1):c.12473A>T (p.Asn4158Ile)
|
rs752828644
|
0.00001
|
NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val)
|
rs775981299
|
0.00001
|
NM_001378454.1(ALMS1):c.12G>C (p.Glu4Asp)
|
rs1260367236
|
0.00001
|
NM_001378454.1(ALMS1):c.1345A>G (p.Arg449Gly)
|
rs777458464
|
0.00001
|
NM_001378454.1(ALMS1):c.1354G>A (p.Glu452Lys)
|
rs1232628050
|
0.00001
|
NM_001378454.1(ALMS1):c.1402G>C (p.Val468Leu)
|
rs1409680993
|
0.00001
|
NM_001378454.1(ALMS1):c.142G>A (p.Glu48Lys)
|
rs751415466
|
0.00001
|
NM_001378454.1(ALMS1):c.1432+5G>A
|
rs755613962
|
0.00001
|
NM_001378454.1(ALMS1):c.145G>A (p.Glu49Lys)
|
rs1476182899
|
0.00001
|
NM_001378454.1(ALMS1):c.1508A>G (p.Asp503Gly)
|
rs771835386
|
0.00001
|
NM_001378454.1(ALMS1):c.1517T>C (p.Ile506Thr)
|
rs976096963
|
0.00001
|
NM_001378454.1(ALMS1):c.1588A>G (p.Thr530Ala)
|
rs778268073
|
0.00001
|
NM_001378454.1(ALMS1):c.159G>C (p.Glu53Asp)
|
rs1245177160
|
0.00001
|
NM_001378454.1(ALMS1):c.1636C>T (p.His546Tyr)
|
rs1671845179
|
0.00001
|
NM_001378454.1(ALMS1):c.1639C>G (p.Leu547Val)
|
rs1451493287
|
0.00001
|
NM_001378454.1(ALMS1):c.1645G>C (p.Glu549Gln)
|
rs1203221115
|
0.00001
|
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly)
|
rs143478466
|
0.00001
|
NM_001378454.1(ALMS1):c.173C>G (p.Ser58Cys)
|
rs748571359
|
0.00001
|
NM_001378454.1(ALMS1):c.1855T>C (p.Ser619Pro)
|
rs921968387
|
0.00001
|
NM_001378454.1(ALMS1):c.1859C>A (p.Thr620Asn)
|
rs1447523847
|
0.00001
|
NM_001378454.1(ALMS1):c.1927G>A (p.Glu643Lys)
|
rs769734500
|
0.00001
|
NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn)
|
rs776932244
|
0.00001
|
NM_001378454.1(ALMS1):c.211G>A (p.Glu71Lys)
|
rs757131983
|
0.00001
|
NM_001378454.1(ALMS1):c.2138C>G (p.Ser713Cys)
|
rs771496254
|
0.00001
|
NM_001378454.1(ALMS1):c.2156G>A (p.Arg719Lys)
|
rs923816827
|
0.00001
|
NM_001378454.1(ALMS1):c.2191G>A (p.Ala731Thr)
|
rs1337404560
|
0.00001
|
NM_001378454.1(ALMS1):c.219C>G (p.Asp73Glu)
|
rs905373886
|
0.00001
|
NM_001378454.1(ALMS1):c.2236A>G (p.Thr746Ala)
|
rs1339477380
|
0.00001
|
NM_001378454.1(ALMS1):c.2296C>A (p.Gln766Lys)
|
rs377000488
|
0.00001
|
NM_001378454.1(ALMS1):c.2348T>C (p.Leu783Pro)
|
rs1671866214
|
0.00001
|
NM_001378454.1(ALMS1):c.2396A>G (p.Gln799Arg)
|
rs530083993
|
0.00001
|
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala)
|
rs772260271
|
0.00001
|
NM_001378454.1(ALMS1):c.244G>C (p.Ala82Pro)
|
rs1453391868
|
0.00001
|
NM_001378454.1(ALMS1):c.2477T>G (p.Leu826Arg)
|
rs1343407616
|
0.00001
|
NM_001378454.1(ALMS1):c.2521T>C (p.Ser841Pro)
|
rs949198387
|
0.00001
|
NM_001378454.1(ALMS1):c.2540A>G (p.Lys847Arg)
|
rs374788400
|
0.00001
|
NM_001378454.1(ALMS1):c.2542A>G (p.Thr848Ala)
|
rs777811953
|
0.00001
|
NM_001378454.1(ALMS1):c.2576C>T (p.Ala859Val)
|
rs749219852
|
0.00001
|
NM_001378454.1(ALMS1):c.25C>T (p.Pro9Ser)
|
rs769538172
|
0.00001
|
NM_001378454.1(ALMS1):c.2636A>G (p.His879Arg)
|
rs1671873298
|
0.00001
|
NM_001378454.1(ALMS1):c.266C>T (p.Pro89Leu)
|
rs989191437
|
0.00001
|
NM_001378454.1(ALMS1):c.2683G>A (p.Asp895Asn)
|
rs756206965
|
0.00001
|
NM_001378454.1(ALMS1):c.2713T>A (p.Ser905Thr)
|
rs1473358206
|
0.00001
|
NM_001378454.1(ALMS1):c.2743A>G (p.Ile915Val)
|
rs200704524
|
0.00001
|
NM_001378454.1(ALMS1):c.2756A>C (p.Gln919Pro)
|
rs751883638
|
0.00001
|
NM_001378454.1(ALMS1):c.2840C>T (p.Thr947Ile)
|
rs576877900
|
0.00001
|
NM_001378454.1(ALMS1):c.28G>A (p.Gly10Ser)
|
rs1045405319
|
0.00001
|
NM_001378454.1(ALMS1):c.2990C>T (p.Thr997Ile)
|
rs1240072348
|
0.00001
|
NM_001378454.1(ALMS1):c.2992G>A (p.Val998Ile)
|
rs374849950
|
0.00001
|
NM_001378454.1(ALMS1):c.3029G>A (p.Ser1010Asn)
|
rs1448665150
|
0.00001
|
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe)
|
rs574757598
|
0.00001
|
NM_001378454.1(ALMS1):c.3064G>T (p.Ala1022Ser)
|
rs1267229357
|
0.00001
|
NM_001378454.1(ALMS1):c.308G>T (p.Arg103Leu)
|
rs1574424130
|
0.00001
|
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg)
|
rs1046964700
|
0.00001
|
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala)
|
rs376232524
|
0.00001
|
NM_001378454.1(ALMS1):c.3272C>T (p.Ala1091Val)
|
rs1402063104
|
0.00001
|
NM_001378454.1(ALMS1):c.3310G>A (p.Gly1104Ser)
|
rs868703237
|
0.00001
|
NM_001378454.1(ALMS1):c.3352A>G (p.Lys1118Glu)
|
rs770713526
|
0.00001
|
NM_001378454.1(ALMS1):c.3373G>T (p.Val1125Leu)
|
rs1180431442
|
0.00001
|
NM_001378454.1(ALMS1):c.341G>T (p.Cys114Phe)
|
rs1052797474
|
0.00001
|
NM_001378454.1(ALMS1):c.3472G>A (p.Ala1158Thr)
|
rs376302473
|
0.00001
|
NM_001378454.1(ALMS1):c.3514T>A (p.Ser1172Thr)
|
rs756748918
|
0.00001
|
NM_001378454.1(ALMS1):c.3563T>C (p.Leu1188Pro)
|
rs745802005
|
0.00001
|
NM_001378454.1(ALMS1):c.3605A>G (p.Tyr1202Cys)
|
rs772706904
|
0.00001
|
NM_001378454.1(ALMS1):c.3623G>A (p.Gly1208Asp)
|
rs765685207
|
0.00001
|
NM_001378454.1(ALMS1):c.365A>G (p.Tyr122Cys)
|
rs757838184
|
0.00001
|
NM_001378454.1(ALMS1):c.3700C>T (p.Pro1234Ser)
|
rs777259139
|
0.00001
|
NM_001378454.1(ALMS1):c.3749A>G (p.Gln1250Arg)
|
rs1332453858
|
0.00001
|
NM_001378454.1(ALMS1):c.3764A>G (p.Asp1255Gly)
|
rs773586990
|
0.00001
|
NM_001378454.1(ALMS1):c.3770A>G (p.His1257Arg)
|
rs770555189
|
0.00001
|
NM_001378454.1(ALMS1):c.3914A>G (p.His1305Arg)
|
rs1394932968
|
0.00001
|
NM_001378454.1(ALMS1):c.392C>A (p.Ser131Tyr)
|
rs756453260
|
0.00001
|
NM_001378454.1(ALMS1):c.3982A>G (p.Ile1328Val)
|
rs1045211044
|
0.00001
|
NM_001378454.1(ALMS1):c.400A>G (p.Asn134Asp)
|
rs780314593
|
0.00001
|
NM_001378454.1(ALMS1):c.4057C>A (p.Pro1353Thr)
|
rs1005994594
|
0.00001
|
NM_001378454.1(ALMS1):c.4115G>A (p.Gly1372Asp)
|
rs1439442789
|
0.00001
|
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu)
|
rs377354387
|
0.00001
|
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg)
|
rs368955191
|
0.00001
|
NM_001378454.1(ALMS1):c.430C>T (p.Arg144Trp)
|
rs748293128
|
0.00001
|
NM_001378454.1(ALMS1):c.4360G>C (p.Glu1454Gln)
|
rs768816557
|
0.00001
|
NM_001378454.1(ALMS1):c.4370T>C (p.Val1457Ala)
|
rs1671922685
|
0.00001
|
NM_001378454.1(ALMS1):c.4379G>T (p.Gly1460Val)
|
rs776345925
|
0.00001
|
NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn)
|
rs757606922
|
0.00001
|
NM_001378454.1(ALMS1):c.4430C>T (p.Ser1477Leu)
|
rs794727926
|
0.00001
|
NM_001378454.1(ALMS1):c.4450G>A (p.Val1484Ile)
|
rs779113815
|
0.00001
|
NM_001378454.1(ALMS1):c.450+3A>G
|
rs1371008925
|
0.00001
|
NM_001378454.1(ALMS1):c.4516C>T (p.Pro1506Ser)
|
rs1233912426
|
0.00001
|
NM_001378454.1(ALMS1):c.4610C>A (p.Ala1537Glu)
|
rs766908325
|
0.00001
|
NM_001378454.1(ALMS1):c.4616T>C (p.Leu1539Pro)
|
rs368273962
|
0.00001
|
NM_001378454.1(ALMS1):c.465G>C (p.Trp155Cys)
|
rs1414087888
|
0.00001
|
NM_001378454.1(ALMS1):c.466C>T (p.His156Tyr)
|
rs750004908
|
0.00001
|
NM_001378454.1(ALMS1):c.4691C>A (p.Pro1564Gln)
|
rs773841585
|
0.00001
|
NM_001378454.1(ALMS1):c.4691C>G (p.Pro1564Arg)
|
rs773841585
|
0.00001
|
NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe)
|
rs765461259
|
0.00001
|
NM_001378454.1(ALMS1):c.4765C>A (p.His1589Asn)
|
rs771703863
|
0.00001
|
NM_001378454.1(ALMS1):c.4788A>C (p.Lys1596Asn)
|
rs925686650
|
0.00001
|
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile)
|
rs759914299
|
0.00001
|
NM_001378454.1(ALMS1):c.4924G>A (p.Val1642Met)
|
rs763324131
|
0.00001
|
NM_001378454.1(ALMS1):c.4942C>A (p.Pro1648Thr)
|
rs754804407
|
0.00001
|
NM_001378454.1(ALMS1):c.4976C>A (p.Pro1659Gln)
|
rs199520788
|
0.00001
|
NM_001378454.1(ALMS1):c.4985C>G (p.Ser1662Cys)
|
rs776002916
|
0.00001
|
NM_001378454.1(ALMS1):c.5017A>G (p.Ile1673Val)
|
rs773107767
|
0.00001
|
NM_001378454.1(ALMS1):c.5042A>G (p.Asp1681Gly)
|
rs765044083
|
0.00001
|
NM_001378454.1(ALMS1):c.5054C>G (p.Pro1685Arg)
|
rs1671941104
|
0.00001
|
NM_001378454.1(ALMS1):c.5077C>T (p.Pro1693Ser)
|
rs1671941473
|
0.00001
|
NM_001378454.1(ALMS1):c.5084C>T (p.Pro1695Leu)
|
rs756796770
|
0.00001
|
NM_001378454.1(ALMS1):c.5147A>G (p.Glu1716Gly)
|
rs760638961
|
0.00001
|
NM_001378454.1(ALMS1):c.516G>T (p.Gln172His)
|
rs767428243
|
0.00001
|
NM_001378454.1(ALMS1):c.5172G>C (p.Gln1724His)
|
rs1402153419
|
0.00001
|
NM_001378454.1(ALMS1):c.5173G>T (p.Ala1725Ser)
|
rs763052163
|
0.00001
|
NM_001378454.1(ALMS1):c.5179C>G (p.Pro1727Ala)
|
rs935844541
|
0.00001
|
NM_001378454.1(ALMS1):c.518C>T (p.Thr173Ile)
|
rs1163075641
|
0.00001
|
NM_001378454.1(ALMS1):c.5258C>T (p.Thr1753Ile)
|
rs954287768
|
0.00001
|
NM_001378454.1(ALMS1):c.5272T>G (p.Phe1758Val)
|
rs1179437667
|
0.00001
|
NM_001378454.1(ALMS1):c.5282A>T (p.His1761Leu)
|
rs760251120
|
0.00001
|
NM_001378454.1(ALMS1):c.5323G>C (p.Asp1775His)
|
rs747341054
|
0.00001
|
NM_001378454.1(ALMS1):c.5343G>C (p.Glu1781Asp)
|
rs1671948778
|
0.00001
|
NM_001378454.1(ALMS1):c.5348T>C (p.Leu1783Pro)
|
rs1188079304
|
0.00001
|
NM_001378454.1(ALMS1):c.5360A>T (p.Asn1787Ile)
|
rs1671949458
|
0.00001
|
NM_001378454.1(ALMS1):c.5425A>G (p.Arg1809Gly)
|
rs1257660889
|
0.00001
|
NM_001378454.1(ALMS1):c.543T>A (p.Asp181Glu)
|
rs1029393339
|
0.00001
|
NM_001378454.1(ALMS1):c.5558A>G (p.Gln1853Arg)
|
rs574696548
|
0.00001
|
NM_001378454.1(ALMS1):c.556G>C (p.Asp186His)
|
rs1044951470
|
0.00001
|
NM_001378454.1(ALMS1):c.557A>C (p.Asp186Ala)
|
rs375830111
|
0.00001
|
NM_001378454.1(ALMS1):c.5608G>A (p.Glu1870Lys)
|
rs372714431
|
0.00001
|
NM_001378454.1(ALMS1):c.5615C>T (p.Thr1872Ile)
|
rs762339692
|
0.00001
|
NM_001378454.1(ALMS1):c.565T>C (p.Ser189Pro)
|
rs760035952
|
0.00001
|
NM_001378454.1(ALMS1):c.5683T>A (p.Ser1895Thr)
|
rs1288519568
|
0.00001
|
NM_001378454.1(ALMS1):c.5761T>G (p.Phe1921Val)
|
rs545488125
|
0.00001
|
NM_001378454.1(ALMS1):c.5767G>C (p.Val1923Leu)
|
rs772665115
|
0.00001
|
NM_001378454.1(ALMS1):c.5777A>G (p.Gln1926Arg)
|
rs376161519
|
0.00001
|
NM_001378454.1(ALMS1):c.5905C>G (p.Pro1969Ala)
|
rs552496175
|
0.00001
|
NM_001378454.1(ALMS1):c.5921C>G (p.Ala1974Gly)
|
rs563067980
|
0.00001
|
NM_001378454.1(ALMS1):c.5956A>G (p.Ser1986Gly)
|
rs778684767
|
0.00001
|
NM_001378454.1(ALMS1):c.6017A>G (p.Asp2006Gly)
|
rs1209226433
|
0.00001
|
NM_001378454.1(ALMS1):c.6020A>G (p.Gln2007Arg)
|
rs1047348249
|
0.00001
|
NM_001378454.1(ALMS1):c.6033T>G (p.Phe2011Leu)
|
rs1671969545
|
0.00001
|
NM_001378454.1(ALMS1):c.6049A>G (p.Ser2017Gly)
|
rs1021572525
|
0.00001
|
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg)
|
rs369339997
|
0.00001
|
NM_001378454.1(ALMS1):c.6077A>G (p.Lys2026Arg)
|
rs367904732
|
0.00001
|
NM_001378454.1(ALMS1):c.6092T>C (p.Ile2031Thr)
|
rs374673974
|
0.00001
|
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu)
|
rs780824087
|
0.00001
|
NM_001378454.1(ALMS1):c.6138T>G (p.Ser2046Arg)
|
rs780566681
|
0.00001
|
NM_001378454.1(ALMS1):c.6166A>G (p.Ile2056Val)
|
rs747108462
|
0.00001
|
NM_001378454.1(ALMS1):c.6190G>A (p.Asp2064Asn)
|
rs183773481
|
0.00001
|
NM_001378454.1(ALMS1):c.6199C>G (p.Gln2067Glu)
|
rs886042711
|
0.00001
|
NM_001378454.1(ALMS1):c.6203G>C (p.Ser2068Thr)
|
rs749979595
|
0.00001
|
NM_001378454.1(ALMS1):c.6218A>G (p.Lys2073Arg)
|
rs1381524403
|
0.00001
|
NM_001378454.1(ALMS1):c.6229G>A (p.Val2077Ile)
|
rs779402813
|
0.00001
|
NM_001378454.1(ALMS1):c.6251A>G (p.Asn2084Ser)
|
rs771084714
|
0.00001
|
NM_001378454.1(ALMS1):c.6350A>G (p.Asp2117Gly)
|
rs1671977745
|
0.00001
|
NM_001378454.1(ALMS1):c.6359A>G (p.Lys2120Arg)
|
rs745919138
|
0.00001
|
NM_001378454.1(ALMS1):c.6415C>T (p.Pro2139Ser)
|
rs772858451
|
0.00001
|
NM_001378454.1(ALMS1):c.6477A>T (p.Arg2159Ser)
|
rs772943318
|
0.00001
|
NM_001378454.1(ALMS1):c.6478C>T (p.His2160Tyr)
|
rs1479606549
|
0.00001
|
NM_001378454.1(ALMS1):c.6496C>G (p.Leu2166Val)
|
rs1200119538
|
0.00001
|
NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu)
|
rs368833782
|
0.00001
|
NM_001378454.1(ALMS1):c.6529C>G (p.Gln2177Glu)
|
rs776108315
|
0.00001
|
NM_001378454.1(ALMS1):c.6563C>G (p.Thr2188Ser)
|
rs752016657
|
0.00001
|
NM_001378454.1(ALMS1):c.6584A>T (p.His2195Leu)
|
rs1671984408
|
0.00001
|
NM_001378454.1(ALMS1):c.6620A>G (p.Asp2207Gly)
|
rs756953806
|
0.00001
|
NM_001378454.1(ALMS1):c.6629A>T (p.Asn2210Ile)
|
rs1026749292
|
0.00001
|
NM_001378454.1(ALMS1):c.6639C>G (p.Asp2213Glu)
|
rs769322538
|
0.00001
|
NM_001378454.1(ALMS1):c.6776T>C (p.Leu2259Pro)
|
rs768229118
|
0.00001
|
NM_001378454.1(ALMS1):c.6790A>G (p.Thr2264Ala)
|
rs772620985
|
0.00001
|
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln)
|
rs200979896
|
0.00001
|
NM_001378454.1(ALMS1):c.6838C>T (p.Pro2280Ser)
|
rs1273490920
|
0.00001
|
NM_001378454.1(ALMS1):c.6889T>A (p.Ser2297Thr)
|
rs771228376
|
0.00001
|
NM_001378454.1(ALMS1):c.6902T>C (p.Val2301Ala)
|
rs759819986
|
0.00001
|
NM_001378454.1(ALMS1):c.6991T>C (p.Cys2331Arg)
|
rs1060500038
|
0.00001
|
NM_001378454.1(ALMS1):c.7079G>C (p.Arg2360Thr)
|
rs1402057300
|
0.00001
|
NM_001378454.1(ALMS1):c.7217C>T (p.Pro2406Leu)
|
rs1481573722
|
0.00001
|
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser)
|
rs866357733
|
0.00001
|
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr)
|
rs778055498
|
0.00001
|
NM_001378454.1(ALMS1):c.739A>G (p.Ser247Gly)
|
rs1055600080
|
0.00001
|
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg)
|
rs749127545
|
0.00001
|
NM_001378454.1(ALMS1):c.7411G>A (p.Gly2471Ser)
|
rs1019293474
|
0.00001
|
NM_001378454.1(ALMS1):c.7426G>A (p.Val2476Ile)
|
rs772752104
|
0.00001
|
NM_001378454.1(ALMS1):c.7447G>A (p.Val2483Met)
|
rs754242152
|
0.00001
|
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln)
|
rs551433143
|
0.00001
|
NM_001378454.1(ALMS1):c.7559A>G (p.Asn2520Ser)
|
rs377085127
|
0.00001
|
NM_001378454.1(ALMS1):c.7568A>G (p.His2523Arg)
|
rs763422515
|
0.00001
|
NM_001378454.1(ALMS1):c.764+4G>A
|
rs1167438151
|
0.00001
|
NM_001378454.1(ALMS1):c.7697T>C (p.Met2566Thr)
|
rs373385088
|
0.00001
|
NM_001378454.1(ALMS1):c.7700G>T (p.Gly2567Val)
|
rs199831059
|
0.00001
|
NM_001378454.1(ALMS1):c.7714G>A (p.Ala2572Thr)
|
rs1171656515
|
0.00001
|
NM_001378454.1(ALMS1):c.776A>G (p.Asp259Gly)
|
rs369122370
|
0.00001
|
NM_001378454.1(ALMS1):c.7780C>T (p.His2594Tyr)
|
rs754585700
|
0.00001
|
NM_001378454.1(ALMS1):c.7788A>C (p.Gln2596His)
|
rs752127434
|
0.00001
|
NM_001378454.1(ALMS1):c.7850A>G (p.Gln2617Arg)
|
rs749293224
|
0.00001
|
NM_001378454.1(ALMS1):c.7883A>G (p.Asn2628Ser)
|
rs776280658
|
0.00001
|
NM_001378454.1(ALMS1):c.8031C>A (p.Asp2677Glu)
|
rs754078506
|
0.00001
|
NM_001378454.1(ALMS1):c.8096C>T (p.Ser2699Leu)
|
rs769405720
|
0.00001
|
NM_001378454.1(ALMS1):c.8111C>T (p.Ser2704Phe)
|
rs761272792
|
0.00001
|
NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly)
|
rs768090632
|
0.00001
|
NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile)
|
rs1672944551
|
0.00001
|
NM_001378454.1(ALMS1):c.8140T>C (p.Ser2714Pro)
|
rs1245467740
|
0.00001
|
NM_001378454.1(ALMS1):c.8162G>A (p.Arg2721Gln)
|
rs745857579
|
0.00001
|
NM_001378454.1(ALMS1):c.8195T>C (p.Val2732Ala)
|
rs200859630
|
0.00001
|
NM_001378454.1(ALMS1):c.8239G>T (p.Val2747Leu)
|
rs878855002
|
0.00001
|
NM_001378454.1(ALMS1):c.8420A>C (p.Gln2807Pro)
|
rs768782274
|
0.00001
|
NM_001378454.1(ALMS1):c.8423A>G (p.Glu2808Gly)
|
rs1255060538
|
0.00001
|
NM_001378454.1(ALMS1):c.847G>C (p.Glu283Gln)
|
rs780066739
|
0.00001
|
NM_001378454.1(ALMS1):c.8483C>A (p.Ala2828Glu)
|
rs751296181
|
0.00001
|
NM_001378454.1(ALMS1):c.8488T>A (p.Cys2830Ser)
|
rs993209212
|
0.00001
|
NM_001378454.1(ALMS1):c.8541G>T (p.Met2847Ile)
|
rs1183007080
|
0.00001
|
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val)
|
rs765176591
|
0.00001
|
NM_001378454.1(ALMS1):c.8638A>G (p.Ile2880Val)
|
rs767384464
|
0.00001
|
NM_001378454.1(ALMS1):c.8654G>A (p.Arg2885Gln)
|
rs185447739
|
0.00001
|
NM_001378454.1(ALMS1):c.8686G>A (p.Ala2896Thr)
|
rs779240181
|
0.00001
|
NM_001378454.1(ALMS1):c.8723C>T (p.Pro2908Leu)
|
rs537639125
|
0.00001
|
NM_001378454.1(ALMS1):c.873T>G (p.Ser291Arg)
|
rs747529881
|
0.00001
|
NM_001378454.1(ALMS1):c.8758T>C (p.Ser2920Pro)
|
rs1398652795
|
0.00001
|
NM_001378454.1(ALMS1):c.8794C>G (p.Gln2932Glu)
|
rs757528252
|
0.00001
|
NM_001378454.1(ALMS1):c.8842C>T (p.Pro2948Ser)
|
rs1171275378
|
0.00001
|
NM_001378454.1(ALMS1):c.8849C>A (p.Pro2950His)
|
rs777913623
|
0.00001
|
NM_001378454.1(ALMS1):c.8875G>C (p.Asp2959His)
|
rs375254366
|
0.00001
|
NM_001378454.1(ALMS1):c.8960T>C (p.Leu2987Pro)
|
rs1465260699
|
0.00001
|
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr)
|
rs937731506
|
0.00001
|
NM_001378454.1(ALMS1):c.901A>C (p.Ile301Leu)
|
rs534913971
|
0.00001
|
NM_001378454.1(ALMS1):c.9073C>A (p.Pro3025Thr)
|
rs773480197
|
0.00001
|
NM_001378454.1(ALMS1):c.9088T>G (p.Leu3030Val)
|
rs754181473
|
0.00001
|
NM_001378454.1(ALMS1):c.9109C>T (p.Pro3037Ser)
|
rs752792682
|
0.00001
|
NM_001378454.1(ALMS1):c.9143A>C (p.His3048Pro)
|
rs866416012
|
0.00001
|
NM_001378454.1(ALMS1):c.9161A>G (p.Lys3054Arg)
|
rs778324244
|
0.00001
|
NM_001378454.1(ALMS1):c.9191T>C (p.Leu3064Ser)
|
rs1434010689
|
0.00001
|
NM_001378454.1(ALMS1):c.9214G>C (p.Asp3072His)
|
rs1022898016
|
0.00001
|
NM_001378454.1(ALMS1):c.9275C>T (p.Ser3092Leu)
|
rs1394971174
|
0.00001
|
NM_001378454.1(ALMS1):c.9292A>T (p.Thr3098Ser)
|
rs1280854716
|
0.00001
|
NM_001378454.1(ALMS1):c.9382G>A (p.Val3128Ile)
|
rs764937531
|
0.00001
|
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe)
|
rs144588413
|
0.00001
|
NM_001378454.1(ALMS1):c.9397C>G (p.Pro3133Ala)
|
rs45493191
|
0.00001
|
NM_001378454.1(ALMS1):c.9442C>A (p.Gln3148Lys)
|
rs917667192
|
0.00001
|
NM_001378454.1(ALMS1):c.9454A>G (p.Ile3152Val)
|
rs761831256
|
0.00001
|
NM_001378454.1(ALMS1):c.9509A>G (p.Asn3170Ser)
|
rs1396386580
|
0.00001
|
NM_001378454.1(ALMS1):c.951A>C (p.Gln317His)
|
rs1233763940
|
0.00001
|
NM_001378454.1(ALMS1):c.953G>A (p.Gly318Glu)
|
rs372886271
|
0.00001
|
NM_001378454.1(ALMS1):c.9545C>T (p.Pro3182Leu)
|
rs1475730829
|
0.00001
|
NM_001378454.1(ALMS1):c.9579T>A (p.Ser3193=)
|
rs769786449
|
0.00001
|
NM_001378454.1(ALMS1):c.9581A>G (p.Glu3194Gly)
|
rs1673634547
|
0.00001
|
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val)
|
rs377600448
|
0.00001
|
NM_001378454.1(ALMS1):c.961G>A (p.Glu321Lys)
|
rs763730338
|
0.00001
|
NM_001378454.1(ALMS1):c.9628G>A (p.Glu3210Lys)
|
rs961373884
|
0.00001
|
NM_001378454.1(ALMS1):c.9631A>G (p.Lys3211Glu)
|
rs770987613
|
0.00001
|
NM_001378454.1(ALMS1):c.9637C>G (p.Leu3213Val)
|
rs575305602
|
0.00001
|
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe)
|
rs771768835
|
0.00001
|
NM_001378454.1(ALMS1):c.9669A>C (p.Glu3223Asp)
|
rs376206840
|
0.00001
|
NM_001378454.1(ALMS1):c.9674G>A (p.Arg3225His)
|
rs765685958
|
0.00001
|
NM_001378454.1(ALMS1):c.9702C>G (p.Asn3234Lys)
|
rs771376818
|
0.00001
|
NM_001378454.1(ALMS1):c.9757G>T (p.Val3253Phe)
|
rs751917932
|
0.00001
|
NM_001378454.1(ALMS1):c.9808C>T (p.Pro3270Ser)
|
rs1673992958
|
0.00001
|
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro)
|
rs759591871
|
0.00001
|
NM_001378615.1(CC2D2A):c.1019A>C (p.Glu340Ala)
|
rs1450279703
|
0.00001
|
NM_001378615.1(CC2D2A):c.1027T>C (p.Trp343Arg)
|
rs1222588033
|
0.00001
|
NM_001378615.1(CC2D2A):c.1179T>G (p.His393Gln)
|
rs368203865
|
0.00001
|
NM_001378615.1(CC2D2A):c.1197C>A (p.Asp399Glu)
|
rs1019784141
|
0.00001
|
NM_001378615.1(CC2D2A):c.1222A>G (p.Ile408Val)
|
rs1196012902
|
0.00001
|
NM_001378615.1(CC2D2A):c.1409C>G (p.Pro470Arg)
|
rs370978967
|
0.00001
|
NM_001378615.1(CC2D2A):c.1466G>A (p.Arg489Gln)
|
rs1300362447
|
0.00001
|
NM_001378615.1(CC2D2A):c.1483C>T (p.Arg495Cys)
|
rs754391657
|
0.00001
|
NM_001378615.1(CC2D2A):c.149T>C (p.Met50Thr)
|
rs765810643
|
0.00001
|
NM_001378615.1(CC2D2A):c.1501A>G (p.Lys501Glu)
|
rs759556765
|
0.00001
|
NM_001378615.1(CC2D2A):c.1672G>A (p.Glu558Lys)
|
rs766924214
|
0.00001
|
NM_001378615.1(CC2D2A):c.1780A>G (p.Lys594Glu)
|
rs764556903
|
0.00001
|
NM_001378615.1(CC2D2A):c.1799A>C (p.Glu600Ala)
|
rs779393473
|
0.00001
|
NM_001378615.1(CC2D2A):c.1810G>A (p.Gly604Ser)
|
rs747935651
|
0.00001
|
NM_001378615.1(CC2D2A):c.1855C>T (p.Pro619Ser)
|
rs1427654469
|
0.00001
|
NM_001378615.1(CC2D2A):c.1871C>T (p.Pro624Leu)
|
rs947493633
|
0.00001
|
NM_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln)
|
rs752576142
|
0.00001
|
NM_001378615.1(CC2D2A):c.1882G>A (p.Ala628Thr)
|
rs1229418241
|
0.00001
|
NM_001378615.1(CC2D2A):c.1948C>G (p.Leu650Val)
|
rs1382964089
|
0.00001
|
NM_001378615.1(CC2D2A):c.1952T>A (p.Val651Asp)
|
rs762298895
|
0.00001
|
NM_001378615.1(CC2D2A):c.1955C>T (p.Pro652Leu)
|
rs759126033
|
0.00001
|
NM_001378615.1(CC2D2A):c.2015C>T (p.Ser672Leu)
|
rs529497661
|
0.00001
|
NM_001378615.1(CC2D2A):c.2041T>A (p.Ser681Thr)
|
rs769428879
|
0.00001
|
NM_001378615.1(CC2D2A):c.2053A>G (p.Lys685Glu)
|
rs879877075
|
0.00001
|
NM_001378615.1(CC2D2A):c.2077G>A (p.Val693Met)
|
rs1402828879
|
0.00001
|
NM_001378615.1(CC2D2A):c.2095C>T (p.Arg699Trp)
|
rs754058720
|
0.00001
|
NM_001378615.1(CC2D2A):c.2133G>C (p.Gln711His)
|
rs886059139
|
0.00001
|
NM_001378615.1(CC2D2A):c.2162C>T (p.Pro721Leu)
|
rs533830027
|
0.00001
|
NM_001378615.1(CC2D2A):c.2181+3A>G
|
rs1718406239
|
0.00001
|
NM_001378615.1(CC2D2A):c.2182G>T (p.Val728Phe)
|
rs752814776
|
0.00001
|
NM_001378615.1(CC2D2A):c.2206A>T (p.Ser736Cys)
|
rs1308459948
|
0.00001
|
NM_001378615.1(CC2D2A):c.2251A>G (p.Thr751Ala)
|
rs942868342
|
0.00001
|
NM_001378615.1(CC2D2A):c.2288A>C (p.Glu763Ala)
|
rs759466798
|
0.00001
|
NM_001378615.1(CC2D2A):c.233G>A (p.Arg78Gln)
|
rs762718210
|
0.00001
|
NM_001378615.1(CC2D2A):c.2399A>G (p.Lys800Arg)
|
rs1287026947
|
0.00001
|
NM_001378615.1(CC2D2A):c.2404T>C (p.Ser802Pro)
|
rs1194338259
|
0.00001
|
NM_001378615.1(CC2D2A):c.2417C>T (p.Ala806Val)
|
rs769808709
|
0.00001
|
NM_001378615.1(CC2D2A):c.2534T>C (p.Leu845Pro)
|
rs1481526699
|
0.00001
|
NM_001378615.1(CC2D2A):c.2605C>A (p.Pro869Thr)
|
rs772863864
|
0.00001
|
NM_001378615.1(CC2D2A):c.2715A>C (p.Leu905Phe)
|
rs1394929452
|
0.00001
|
NM_001378615.1(CC2D2A):c.275G>A (p.Arg92Lys)
|
rs1342506197
|
0.00001
|
NM_001378615.1(CC2D2A):c.2780A>C (p.Tyr927Ser)
|
rs915290953
|
0.00001
|
NM_001378615.1(CC2D2A):c.280G>C (p.Gly94Arg)
|
rs1435144536
|
0.00001
|
NM_001378615.1(CC2D2A):c.2891A>G (p.His964Arg)
|
rs1273769297
|
0.00001
|
NM_001378615.1(CC2D2A):c.2902G>A (p.Val968Ile)
|
rs1369320518
|
0.00001
|
NM_001378615.1(CC2D2A):c.2918A>T (p.Gln973Leu)
|
rs1321218611
|
0.00001
|
NM_001378615.1(CC2D2A):c.305G>A (p.Gly102Glu)
|
rs373765548
|
0.00001
|
NM_001378615.1(CC2D2A):c.3076A>G (p.Lys1026Glu)
|
rs759702917
|
0.00001
|
NM_001378615.1(CC2D2A):c.307C>T (p.Arg103Cys)
|
rs367699902
|
0.00001
|
NM_001378615.1(CC2D2A):c.3115G>A (p.Gly1039Arg)
|
rs1358156436
|
0.00001
|
NM_001378615.1(CC2D2A):c.3146G>A (p.Arg1049Gln)
|
rs1192970855
|
0.00001
|
NM_001378615.1(CC2D2A):c.3200C>T (p.Ser1067Leu)
|
rs886059181
|
0.00001
|
NM_001378615.1(CC2D2A):c.3263A>C (p.His1088Pro)
|
rs1295889715
|
0.00001
|
NM_001378615.1(CC2D2A):c.3401C>T (p.Ala1134Val)
|
rs375903728
|
0.00001
|
NM_001378615.1(CC2D2A):c.3424G>C (p.Ala1142Pro)
|
rs1277091809
|
0.00001
|
NM_001378615.1(CC2D2A):c.3458T>C (p.Ile1153Thr)
|
rs1410133502
|
0.00001
|
NM_001378615.1(CC2D2A):c.3495G>A (p.Glu1165=)
|
rs374241960
|
0.00001
|
NM_001378615.1(CC2D2A):c.3529C>T (p.Arg1177Cys)
|
rs371561652
|
0.00001
|
NM_001378615.1(CC2D2A):c.3533T>C (p.Ile1178Thr)
|
rs376674451
|
0.00001
|
NM_001378615.1(CC2D2A):c.3580T>C (p.Tyr1194His)
|
rs756905415
|
0.00001
|
NM_001378615.1(CC2D2A):c.3594+5G>A
|
rs863225181
|
0.00001
|
NM_001378615.1(CC2D2A):c.3610A>C (p.Lys1204Gln)
|
rs1409153766
|
0.00001
|
NM_001378615.1(CC2D2A):c.3671G>A (p.Arg1224Gln)
|
rs892274416
|
0.00001
|
NM_001378615.1(CC2D2A):c.3712A>G (p.Ile1238Val)
|
rs964134322
|
0.00001
|
NM_001378615.1(CC2D2A):c.383C>T (p.Pro128Leu)
|
rs768439693
|
0.00001
|
NM_001378615.1(CC2D2A):c.4048C>T (p.Leu1350Phe)
|
rs780313255
|
0.00001
|
NM_001378615.1(CC2D2A):c.4055G>A (p.Ser1352Asn)
|
rs749491270
|
0.00001
|
NM_001378615.1(CC2D2A):c.4178A>C (p.Glu1393Ala)
|
rs1258451179
|
0.00001
|
NM_001378615.1(CC2D2A):c.4180-5T>C
|
rs766234817
|
0.00001
|
NM_001378615.1(CC2D2A):c.4209G>T (p.Glu1403Asp)
|
rs751624828
|
0.00001
|
NM_001378615.1(CC2D2A):c.4217G>A (p.Arg1406His)
|
rs369001837
|
0.00001
|
NM_001378615.1(CC2D2A):c.4396T>G (p.Phe1466Val)
|
rs1170583979
|
0.00001
|
NM_001378615.1(CC2D2A):c.4400C>T (p.Ser1467Leu)
|
rs1041487733
|
0.00001
|
NM_001378615.1(CC2D2A):c.4526T>C (p.Met1509Thr)
|
rs760863691
|
0.00001
|
NM_001378615.1(CC2D2A):c.4600T>G (p.Leu1534Val)
|
rs778858648
|
0.00001
|
NM_001378615.1(CC2D2A):c.4640G>A (p.Arg1547Lys)
|
rs760048536
|
0.00001
|
NM_001378615.1(CC2D2A):c.4674+3A>T
|
rs754534791
|
0.00001
|
NM_001378615.1(CC2D2A):c.4675-1G>C
|
rs764806176
|
0.00001
|
NM_001378615.1(CC2D2A):c.4697T>C (p.Met1566Thr)
|
rs762773515
|
0.00001
|
NM_001378615.1(CC2D2A):c.4747G>A (p.Val1583Ile)
|
rs371196379
|
0.00001
|
NM_001378615.1(CC2D2A):c.4759G>T (p.Asp1587Tyr)
|
rs1378734767
|
0.00001
|
NM_001378615.1(CC2D2A):c.55G>C (p.Asp19His)
|
rs755345164
|
0.00001
|
NM_001378615.1(CC2D2A):c.579C>G (p.Asn193Lys)
|
rs761117385
|
0.00001
|
NM_001378615.1(CC2D2A):c.590T>C (p.Phe197Ser)
|
rs200761243
|
0.00001
|
NM_001378615.1(CC2D2A):c.634G>C (p.Ala212Pro)
|
rs965986708
|
0.00001
|
NM_001378615.1(CC2D2A):c.695C>A (p.Ala232Glu)
|
rs779245267
|
0.00001
|
NM_001378615.1(CC2D2A):c.779T>C (p.Val260Ala)
|
rs1440700780
|
0.00001
|
NM_001378615.1(CC2D2A):c.787G>A (p.Asp263Asn)
|
rs747042723
|
0.00001
|
NM_001378615.1(CC2D2A):c.7C>A (p.Pro3Thr)
|
rs745734694
|
0.00001
|
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp)
|
rs372873919
|
0.00001
|
NM_001378615.1(CC2D2A):c.833G>A (p.Arg278Gln)
|
rs775794635
|
0.00001
|
NM_001378615.1(CC2D2A):c.857T>C (p.Leu286Pro)
|
rs776020343
|
0.00001
|
NM_001378615.1(CC2D2A):c.958C>T (p.Pro320Ser)
|
rs374098727
|
0.00001
|
NM_001378615.1(CC2D2A):c.964G>A (p.Val322Met)
|
rs1010349592
|
0.00001
|
NM_001378615.1(CC2D2A):c.977A>G (p.Asn326Ser)
|
rs1425158863
|
0.00001
|
NM_001378615.1(CC2D2A):c.97G>A (p.Val33Ile)
|
rs745409806
|
0.00001
|
NM_001382391.1(CSPP1):c.-102G>A
|
rs1805078439
|
0.00001
|
NM_001382391.1(CSPP1):c.-116C>T
|
rs371071297
|
0.00001
|
NM_001382391.1(CSPP1):c.-140C>G
|
rs770993498
|
0.00001
|
NM_001382391.1(CSPP1):c.-146T>A
|
rs749476046
|
0.00001
|
NM_001382391.1(CSPP1):c.-75C>T
|
rs918221746
|
0.00001
|
NM_001382391.1(CSPP1):c.100-3C>T
|
rs919525492
|
0.00001
|
NM_001382391.1(CSPP1):c.1009G>T (p.Ala337Ser)
|
rs1395802185
|
0.00001
|
NM_001382391.1(CSPP1):c.1115T>C (p.Ile372Thr)
|
rs1445583372
|
0.00001
|
NM_001382391.1(CSPP1):c.1194A>T (p.Lys398Asn)
|
rs1037020711
|
0.00001
|
NM_001382391.1(CSPP1):c.1241A>T (p.Lys414Ile)
|
rs1231591915
|
0.00001
|
NM_001382391.1(CSPP1):c.1315G>A (p.Ala439Thr)
|
rs1460794902
|
0.00001
|
NM_001382391.1(CSPP1):c.1400C>A (p.Ser467Tyr)
|
rs974893054
|
0.00001
|
NM_001382391.1(CSPP1):c.1433C>G (p.Pro478Arg)
|
rs1438276592
|
0.00001
|
NM_001382391.1(CSPP1):c.1502C>T (p.Ala501Val)
|
rs755596091
|
0.00001
|
NM_001382391.1(CSPP1):c.1540A>G (p.Thr514Ala)
|
rs1818321960
|
0.00001
|
NM_001382391.1(CSPP1):c.1550G>A (p.Arg517Gln)
|
rs778430027
|
0.00001
|
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser)
|
rs1818326433
|
0.00001
|
NM_001382391.1(CSPP1):c.1568C>A (p.Ala523Glu)
|
rs375900507
|
0.00001
|
NM_001382391.1(CSPP1):c.1591A>G (p.Asn531Asp)
|
rs768395830
|
0.00001
|
NM_001382391.1(CSPP1):c.1619A>G (p.Tyr540Cys)
|
rs1818416279
|
0.00001
|
NM_001382391.1(CSPP1):c.1645C>G (p.Pro549Ala)
|
rs754153035
|
0.00001
|
NM_001382391.1(CSPP1):c.1827+3A>G
|
rs1449112719
|
0.00001
|
NM_001382391.1(CSPP1):c.1831C>T (p.Arg611Trp)
|
rs527674289
|
0.00001
|
NM_001382391.1(CSPP1):c.1843G>C (p.Glu615Gln)
|
rs1822579573
|
0.00001
|
NM_001382391.1(CSPP1):c.1861C>T (p.Arg621Cys)
|
rs760288983
|
0.00001
|
NM_001382391.1(CSPP1):c.1871A>G (p.Lys624Arg)
|
rs1452211221
|
0.00001
|
NM_001382391.1(CSPP1):c.1906A>G (p.Arg636Gly)
|
rs1212455505
|
0.00001
|
NM_001382391.1(CSPP1):c.1928A>G (p.Lys643Arg)
|
rs1822600510
|
0.00001
|
NM_001382391.1(CSPP1):c.199+13A>G
|
rs756283251
|
0.00001
|
NM_001382391.1(CSPP1):c.1997G>A (p.Arg666Lys)
|
rs1420249213
|
0.00001
|
NM_001382391.1(CSPP1):c.2006T>C (p.Ile669Thr)
|
rs968055651
|
0.00001
|
NM_001382391.1(CSPP1):c.2018A>G (p.His673Arg)
|
rs769707621
|
0.00001
|
NM_001382391.1(CSPP1):c.2080G>T (p.Ala694Ser)
|
rs751023936
|
0.00001
|
NM_001382391.1(CSPP1):c.2129G>C (p.Gly710Ala)
|
rs780885390
|
0.00001
|
NM_001382391.1(CSPP1):c.2141C>T (p.Thr714Ile)
|
rs577752590
|
0.00001
|
NM_001382391.1(CSPP1):c.2162G>A (p.Arg721Gln)
|
rs201974031
|
0.00001
|
NM_001382391.1(CSPP1):c.2168A>G (p.Asn723Ser)
|
rs1826216893
|
0.00001
|
NM_001382391.1(CSPP1):c.2234G>A (p.Arg745His)
|
rs769971911
|
0.00001
|
NM_001382391.1(CSPP1):c.2284C>A (p.Leu762Met)
|
rs760013419
|
0.00001
|
NM_001382391.1(CSPP1):c.2332G>A (p.Ala778Thr)
|
rs1421808533
|
0.00001
|
NM_001382391.1(CSPP1):c.2435G>A (p.Arg812Lys)
|
rs1251717089
|
0.00001
|
NM_001382391.1(CSPP1):c.2510G>A (p.Arg837Lys)
|
rs765955382
|
0.00001
|
NM_001382391.1(CSPP1):c.253C>T (p.His85Tyr)
|
rs769473253
|
0.00001
|
NM_001382391.1(CSPP1):c.262A>G (p.Lys88Glu)
|
rs1332974255
|
0.00001
|
NM_001382391.1(CSPP1):c.2654T>C (p.Met885Thr)
|
rs894040195
|
0.00001
|
NM_001382391.1(CSPP1):c.2677G>A (p.Val893Ile)
|
rs1828816022
|
0.00001
|
NM_001382391.1(CSPP1):c.2732T>A (p.Met911Lys)
|
rs746260241
|
0.00001
|
NM_001382391.1(CSPP1):c.275G>C (p.Arg92Pro)
|
rs764280843
|
0.00001
|
NM_001382391.1(CSPP1):c.2773A>G (p.Arg925Gly)
|
rs772949501
|
0.00001
|
NM_001382391.1(CSPP1):c.2776C>T (p.Arg926Cys)
|
rs373151997
|
0.00001
|
NM_001382391.1(CSPP1):c.2789G>A (p.Arg930Gln)
|
rs377493480
|
0.00001
|
NM_001382391.1(CSPP1):c.2800A>G (p.Met934Val)
|
rs370720351
|
0.00001
|
NM_001382391.1(CSPP1):c.2807G>A (p.Ser936Asn)
|
rs1381482450
|
0.00001
|
NM_001382391.1(CSPP1):c.2813A>G (p.Asp938Gly)
|
rs1282726257
|
0.00001
|
NM_001382391.1(CSPP1):c.2829-3T>C
|
rs1830657246
|
0.00001
|
NM_001382391.1(CSPP1):c.2864T>C (p.Met955Thr)
|
rs1162661826
|
0.00001
|
NM_001382391.1(CSPP1):c.2866G>T (p.Ala956Ser)
|
rs745710780
|
0.00001
|
NM_001382391.1(CSPP1):c.2910G>C (p.Lys970Asn)
|
rs766939685
|
0.00001
|
NM_001382391.1(CSPP1):c.2986G>A (p.Asp996Asn)
|
rs1384362094
|
0.00001
|
NM_001382391.1(CSPP1):c.303+3A>T
|
rs920556156
|
0.00001
|
NM_001382391.1(CSPP1):c.3109+5G>C
|
rs772586492
|
0.00001
|
NM_001382391.1(CSPP1):c.3124A>G (p.Ile1042Val)
|
rs370238037
|
0.00001
|
NM_001382391.1(CSPP1):c.3163G>C (p.Asp1055His)
|
rs766496985
|
0.00001
|
NM_001382391.1(CSPP1):c.3236C>T (p.Thr1079Ile)
|
rs1368965128
|
0.00001
|
NM_001382391.1(CSPP1):c.3259G>A (p.Val1087Ile)
|
rs778723931
|
0.00001
|
NM_001382391.1(CSPP1):c.3298C>T (p.Arg1100Cys)
|
rs758825560
|
0.00001
|
NM_001382391.1(CSPP1):c.32A>C (p.Glu11Ala)
|
rs778293599
|
0.00001
|
NM_001382391.1(CSPP1):c.3340C>T (p.Arg1114Cys)
|
rs537833447
|
0.00001
|
NM_001382391.1(CSPP1):c.3355C>A (p.Pro1119Thr)
|
rs1017040124
|
0.00001
|
NM_001382391.1(CSPP1):c.3361G>A (p.Gly1121Ser)
|
rs1158377033
|
0.00001
|
NM_001382391.1(CSPP1):c.3382T>C (p.Ser1128Pro)
|
rs766061975
|
0.00001
|
NM_001382391.1(CSPP1):c.3479G>C (p.Ser1160Thr)
|
rs1170601676
|
0.00001
|
NM_001382391.1(CSPP1):c.3520G>C (p.Asp1174His)
|
rs752140903
|
0.00001
|
NM_001382391.1(CSPP1):c.3560G>A (p.Arg1187His)
|
rs748165041
|
0.00001
|
NM_001382391.1(CSPP1):c.3587G>A (p.Arg1196His)
|
rs1241589485
|
0.00001
|
NM_001382391.1(CSPP1):c.3619C>T (p.Gln1207Ter)
|
rs936435444
|
0.00001
|
NM_001382391.1(CSPP1):c.3653G>C (p.Trp1218Ser)
|
rs377160929
|
0.00001
|
NM_001382391.1(CSPP1):c.500A>G (p.Asn167Ser)
|
rs1395114211
|
0.00001
|
NM_001382391.1(CSPP1):c.502A>C (p.Lys168Gln)
|
rs772650396
|
0.00001
|
NM_001382391.1(CSPP1):c.509C>A (p.Pro170His)
|
rs762548335
|
0.00001
|
NM_001382391.1(CSPP1):c.650A>G (p.Tyr217Cys)
|
rs747784602
|
0.00001
|
NM_001382391.1(CSPP1):c.659T>C (p.Leu220Pro)
|
rs1339065259
|
0.00001
|
NM_001382391.1(CSPP1):c.697A>G (p.Lys233Glu)
|
rs752084244
|
0.00001
|
NM_001382391.1(CSPP1):c.72A>C (p.Glu24Asp)
|
rs748917623
|
0.00001
|
NM_001382391.1(CSPP1):c.875A>G (p.Tyr292Cys)
|
rs1369528194
|
0.00001
|
NM_001382391.1(CSPP1):c.908T>C (p.Val303Ala)
|
rs764343140
|
0.00001
|
NM_001382391.1(CSPP1):c.929A>G (p.His310Arg)
|
rs374738280
|
0.00001
|
NM_001382391.1(CSPP1):c.941G>A (p.Arg314Gln)
|
rs1173092063
|
0.00001
|
NM_001382391.1(CSPP1):c.989C>T (p.Ser330Leu)
|
rs754454865
|
0.00001
|
NM_001384732.1(CPLANE1):c.3040C>G (p.Leu1014Val)
|
rs969126655
|
0.00001
|
NM_001481.3(GAS8):c.1012G>T (p.Val338Leu)
|
rs977173408
|
0.00001
|
NM_001481.3(GAS8):c.1037A>G (p.Tyr346Cys)
|
rs2037162822
|
0.00001
|
NM_001481.3(GAS8):c.110G>A (p.Arg37His)
|
rs760398932
|
0.00001
|
NM_001481.3(GAS8):c.1169C>A (p.Ala390Asp)
|
rs1452970741
|
0.00001
|
NM_001481.3(GAS8):c.1400G>A (p.Gly467Asp)
|
rs776628562
|
0.00001
|
NM_001481.3(GAS8):c.1427C>T (p.Thr476Ile)
|
rs753329361
|
0.00001
|
NM_001481.3(GAS8):c.242A>C (p.Asp81Ala)
|
rs769384158
|
0.00001
|
NM_001481.3(GAS8):c.262G>A (p.Glu88Lys)
|
rs764346244
|
0.00001
|
NM_001481.3(GAS8):c.318A>G (p.Leu106=)
|
rs770015007
|
0.00001
|
NM_001481.3(GAS8):c.427C>T (p.Arg143Trp)
|
rs374385993
|
0.00001
|
NM_001481.3(GAS8):c.554T>C (p.Ile185Thr)
|
rs751798742
|
0.00001
|
NM_001481.3(GAS8):c.601G>A (p.Asp201Asn)
|
rs1039044975
|
0.00001
|
NM_001481.3(GAS8):c.628G>A (p.Glu210Lys)
|
rs753171620
|
0.00001
|
NM_001481.3(GAS8):c.64G>A (p.Ala22Thr)
|
rs762664716
|
0.00001
|
NM_001481.3(GAS8):c.692C>G (p.Thr231Ser)
|
rs761154837
|
0.00001
|
NM_001481.3(GAS8):c.710A>G (p.Tyr237Cys)
|
rs751123954
|
0.00001
|
NM_001481.3(GAS8):c.712A>G (p.Asn238Asp)
|
rs754476344
|
0.00001
|
NM_001481.3(GAS8):c.730A>G (p.Asn244Asp)
|
rs745989300
|
0.00001
|
NM_001481.3(GAS8):c.901G>A (p.Glu301Lys)
|
rs757384283
|
0.00001
|
NM_001481.3(GAS8):c.937C>T (p.Arg313Cys)
|
rs745725272
|
0.00001
|
NM_002601.4(PDE6D):c.103A>G (p.Thr35Ala)
|
rs1448692172
|
0.00001
|
NM_002601.4(PDE6D):c.359C>A (p.Ala120Glu)
|
rs1430956453
|
0.00001
|
NM_003114.5(SPAG1):c.1042G>A (p.Glu348Lys)
|
rs1060503106
|
0.00001
|
NM_003114.5(SPAG1):c.1193G>A (p.Arg398Gln)
|
rs772098225
|
0.00001
|
NM_003114.5(SPAG1):c.1201A>G (p.Arg401Gly)
|
rs1448300734
|
0.00001
|
NM_003114.5(SPAG1):c.1373G>T (p.Ser458Ile)
|
rs1350224788
|
0.00001
|
NM_003114.5(SPAG1):c.1679G>A (p.Ser560Asn)
|
rs772718898
|
0.00001
|
NM_003114.5(SPAG1):c.1762G>C (p.Ala588Pro)
|
rs750270074
|
0.00001
|
NM_003114.5(SPAG1):c.1924G>A (p.Ala642Thr)
|
rs773145801
|
0.00001
|
NM_003114.5(SPAG1):c.2066G>A (p.Gly689Glu)
|
rs745853774
|
0.00001
|
NM_003114.5(SPAG1):c.208C>G (p.Pro70Ala)
|
rs1468747674
|
0.00001
|
NM_003114.5(SPAG1):c.2174T>C (p.Ile725Thr)
|
rs746832645
|
0.00001
|
NM_003114.5(SPAG1):c.2212C>A (p.Leu738Ile)
|
rs768030549
|
0.00001
|
NM_003114.5(SPAG1):c.2252A>G (p.Lys751Arg)
|
rs1429800529
|
0.00001
|
NM_003114.5(SPAG1):c.2281G>T (p.Val761Leu)
|
rs758568364
|
0.00001
|
NM_003114.5(SPAG1):c.2364C>G (p.Ser788Arg)
|
rs778436096
|
0.00001
|
NM_003114.5(SPAG1):c.2396C>T (p.Pro799Leu)
|
rs767385731
|
0.00001
|
NM_003114.5(SPAG1):c.2752C>T (p.Gln918Ter)
|
rs780337450
|
0.00001
|
NM_003114.5(SPAG1):c.547A>G (p.Ile183Val)
|
rs751142825
|
0.00001
|
NM_003114.5(SPAG1):c.548T>C (p.Ile183Thr)
|
rs754428256
|
0.00001
|
NM_003114.5(SPAG1):c.662A>G (p.Asn221Ser)
|
rs918123832
|
0.00001
|
NM_003114.5(SPAG1):c.734A>G (p.Tyr245Cys)
|
rs372197260
|
0.00001
|
NM_003114.5(SPAG1):c.890A>G (p.Glu297Gly)
|
rs779765255
|
0.00001
|
NM_003114.5(SPAG1):c.89T>C (p.Ile30Thr)
|
rs1278777571
|
0.00001
|
NM_003114.5(SPAG1):c.911A>G (p.Asp304Gly)
|
rs746323609
|
0.00001
|
NM_003114.5(SPAG1):c.977C>T (p.Ser326Phe)
|
rs777488014
|
0.00001
|
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)
|
rs758903488
|
0.00001
|
NM_003611.3(OFD1):c.1081T>C (p.Tyr361His)
|
rs991181381
|
0.00001
|
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln)
|
rs312262864
|
0.00001
|
NM_003611.3(OFD1):c.1111G>A (p.Asp371Asn)
|
rs373202088
|
0.00001
|
NM_003611.3(OFD1):c.1205G>A (p.Arg402His)
|
rs1283023888
|
0.00001
|
NM_003611.3(OFD1):c.1278G>A (p.Met426Ile)
|
rs756825275
|
0.00001
|
NM_003611.3(OFD1):c.1300A>T (p.Met434Leu)
|
rs1191893961
|
0.00001
|
NM_003611.3(OFD1):c.1427C>T (p.Ala476Val)
|
rs1189655158
|
0.00001
|
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys)
|
rs1454731121
|
0.00001
|
NM_003611.3(OFD1):c.149A>G (p.His50Arg)
|
rs863225213
|
0.00001
|
NM_003611.3(OFD1):c.1543-3C>T
|
rs1427426943
|
0.00001
|
NM_003611.3(OFD1):c.1699G>A (p.Asp567Asn)
|
rs760663674
|
0.00001
|
NM_003611.3(OFD1):c.1960C>T (p.Arg654Trp)
|
rs779709673
|
0.00001
|
NM_003611.3(OFD1):c.2028G>A (p.Leu676=)
|
rs775904671
|
0.00001
|
NM_003611.3(OFD1):c.2140G>A (p.Val714Met)
|
rs797045845
|
0.00001
|
NM_003611.3(OFD1):c.2188T>A (p.Ser730Thr)
|
rs780934031
|
0.00001
|
NM_003611.3(OFD1):c.223A>G (p.Asn75Asp)
|
rs760347311
|
0.00001
|
NM_003611.3(OFD1):c.2388-3T>C
|
rs1301197444
|
0.00001
|
NM_003611.3(OFD1):c.2467G>A (p.Glu823Lys)
|
rs1282756613
|
0.00001
|
NM_003611.3(OFD1):c.2514G>C (p.Leu838Phe)
|
rs1443995525
|
0.00001
|
NM_003611.3(OFD1):c.2525G>C (p.Gly842Ala)
|
rs201180146
|
0.00001
|
NM_003611.3(OFD1):c.2539G>A (p.Gly847Arg)
|
rs1178559792
|
0.00001
|
NM_003611.3(OFD1):c.2598A>C (p.Pro866=)
|
rs2048026816
|
0.00001
|
NM_003611.3(OFD1):c.2987A>G (p.Lys996Arg)
|
rs777790587
|
0.00001
|
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp)
|
rs1235702491
|
0.00001
|
NM_003611.3(OFD1):c.313G>A (p.Val105Ile)
|
rs772018123
|
0.00001
|
NM_003611.3(OFD1):c.53A>C (p.Glu18Ala)
|
rs1185798273
|
0.00001
|
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg)
|
rs1158126675
|
0.00001
|
NM_003611.3(OFD1):c.797G>C (p.Ser266Thr)
|
rs1354561362
|
0.00001
|
NM_003611.3(OFD1):c.935+4A>G
|
rs1243725011
|
0.00001
|
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly)
|
rs764424025
|
0.00001
|
NM_003611.3(OFD1):c.972A>G (p.Ile324Met)
|
rs2047490451
|
0.00001
|
NM_006642.5(SDCCAG8):c.1010A>G (p.Tyr337Cys)
|
rs771991355
|
0.00001
|
NM_006642.5(SDCCAG8):c.1069-8C>T
|
rs752672598
|
0.00001
|
NM_006642.5(SDCCAG8):c.1099G>A (p.Glu367Lys)
|
rs780671703
|
0.00001
|
NM_006642.5(SDCCAG8):c.1121G>A (p.Arg374Gln)
|
rs553797432
|
0.00001
|
NM_006642.5(SDCCAG8):c.115G>A (p.Gly39Ser)
|
rs756642876
|
0.00001
|
NM_006642.5(SDCCAG8):c.1163T>A (p.Ile388Asn)
|
rs377237088
|
0.00001
|
NM_006642.5(SDCCAG8):c.1175T>C (p.Met392Thr)
|
rs1041307493
|
0.00001
|
NM_006642.5(SDCCAG8):c.1210A>G (p.Met404Val)
|
rs1298150302
|
0.00001
|
NM_006642.5(SDCCAG8):c.1222A>G (p.Met408Val)
|
rs752002252
|
0.00001
|
NM_006642.5(SDCCAG8):c.1247C>T (p.Ala416Val)
|
rs1345199314
|
0.00001
|
NM_006642.5(SDCCAG8):c.1272G>C (p.Lys424Asn)
|
rs777728424
|
0.00001
|
NM_006642.5(SDCCAG8):c.1274T>C (p.Val425Ala)
|
rs779777531
|
0.00001
|
NM_006642.5(SDCCAG8):c.1287G>T (p.Lys429Asn)
|
rs781182231
|
0.00001
|
NM_006642.5(SDCCAG8):c.1297A>G (p.Ile433Val)
|
rs769796315
|
0.00001
|
NM_006642.5(SDCCAG8):c.1336C>T (p.Arg446Trp)
|
rs769286565
|
0.00001
|
NM_006642.5(SDCCAG8):c.1337G>A (p.Arg446Gln)
|
rs772853104
|
0.00001
|
NM_006642.5(SDCCAG8):c.1343T>C (p.Met448Thr)
|
rs1015302300
|
0.00001
|
NM_006642.5(SDCCAG8):c.1375T>C (p.Tyr459His)
|
rs1182496392
|
0.00001
|
NM_006642.5(SDCCAG8):c.1423C>T (p.His475Tyr)
|
rs190941099
|
0.00001
|
NM_006642.5(SDCCAG8):c.1427G>A (p.Arg476Lys)
|
rs761873846
|
0.00001
|
NM_006642.5(SDCCAG8):c.1427G>C (p.Arg476Thr)
|
rs761873846
|
0.00001
|
NM_006642.5(SDCCAG8):c.1454A>G (p.Asp485Gly)
|
rs1273880712
|
0.00001
|
NM_006642.5(SDCCAG8):c.1465A>G (p.Lys489Glu)
|
rs1573445816
|
0.00001
|
NM_006642.5(SDCCAG8):c.1488G>T (p.Leu496Phe)
|
rs1432354431
|
0.00001
|
NM_006642.5(SDCCAG8):c.1642A>C (p.Ser548Arg)
|
rs1388276184
|
0.00001
|
NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro)
|
rs771493123
|
0.00001
|
NM_006642.5(SDCCAG8):c.1768A>G (p.Thr590Ala)
|
rs780281311
|
0.00001
|
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val)
|
rs776765317
|
0.00001
|
NM_006642.5(SDCCAG8):c.1823A>G (p.Lys608Arg)
|
rs760154232
|
0.00001
|
NM_006642.5(SDCCAG8):c.1888T>C (p.Tyr630His)
|
rs138187640
|
0.00001
|
NM_006642.5(SDCCAG8):c.1913T>C (p.Leu638Ser)
|
rs752896885
|
0.00001
|
NM_006642.5(SDCCAG8):c.1955A>G (p.His652Arg)
|
rs746505992
|
0.00001
|
NM_006642.5(SDCCAG8):c.1964T>A (p.Val655Glu)
|
rs1415587153
|
0.00001
|
NM_006642.5(SDCCAG8):c.1986-3C>T
|
rs757455834
|
0.00001
|
NM_006642.5(SDCCAG8):c.2026C>G (p.Gln676Glu)
|
rs1242245359
|
0.00001
|
NM_006642.5(SDCCAG8):c.2122A>G (p.Met708Val)
|
rs778488043
|
0.00001
|
NM_006642.5(SDCCAG8):c.307-3T>C
|
rs901028030
|
0.00001
|
NM_006642.5(SDCCAG8):c.349G>A (p.Asp117Asn)
|
rs913322544
|
0.00001
|
NM_006642.5(SDCCAG8):c.359A>G (p.His120Arg)
|
rs778785206
|
0.00001
|
NM_006642.5(SDCCAG8):c.364A>G (p.Ile122Val)
|
rs377473337
|
0.00001
|
NM_006642.5(SDCCAG8):c.365T>C (p.Ile122Thr)
|
rs758051187
|
0.00001
|
NM_006642.5(SDCCAG8):c.37A>T (p.Ile13Phe)
|
rs763172123
|
0.00001
|
NM_006642.5(SDCCAG8):c.404A>T (p.Glu135Val)
|
rs747774826
|
0.00001
|
NM_006642.5(SDCCAG8):c.546C>T (p.Ser182=)
|
rs564399164
|
0.00001
|
NM_006642.5(SDCCAG8):c.560A>G (p.Asn187Ser)
|
rs185077992
|
0.00001
|
NM_006642.5(SDCCAG8):c.574A>G (p.Thr192Ala)
|
rs1003029505
|
0.00001
|
NM_006642.5(SDCCAG8):c.646G>A (p.Ala216Thr)
|
rs753823148
|
0.00001
|
NM_006642.5(SDCCAG8):c.67+17C>G
|
rs1311985140
|
0.00001
|
NM_006642.5(SDCCAG8):c.695A>C (p.Tyr232Ser)
|
rs747968552
|
0.00001
|
NM_006642.5(SDCCAG8):c.707G>A (p.Cys236Tyr)
|
rs1299404653
|
0.00001
|
NM_006642.5(SDCCAG8):c.749T>C (p.Leu250Ser)
|
rs1357310997
|
0.00001
|
NM_006642.5(SDCCAG8):c.929+6T>C
|
rs949556945
|
0.00001
|
NM_006642.5(SDCCAG8):c.950C>T (p.Ser317Phe)
|
rs368258515
|
0.00001
|
NM_012144.4(DNAI1):c.1084C>T (p.Arg362Trp)
|
rs147893084
|
0.00001
|
NM_012144.4(DNAI1):c.1088G>C (p.Gly363Ala)
|
rs1470058689
|
0.00001
|
NM_012144.4(DNAI1):c.1384T>G (p.Ser462Ala)
|
rs1437841728
|
0.00001
|
NM_012144.4(DNAI1):c.1603A>G (p.Thr535Ala)
|
rs904725096
|
0.00001
|
NM_012144.4(DNAI1):c.1607A>G (p.Tyr536Cys)
|
rs144611423
|
0.00001
|
NM_012144.4(DNAI1):c.1711A>G (p.Thr571Ala)
|
rs1206542308
|
0.00001
|
NM_012144.4(DNAI1):c.1736A>G (p.Tyr579Cys)
|
rs760852851
|
0.00001
|
NM_012144.4(DNAI1):c.1772C>T (p.Ala591Val)
|
rs751197523
|
0.00001
|
NM_012144.4(DNAI1):c.2048C>T (p.Ala683Val)
|
rs535760702
|
0.00001
|
NM_012144.4(DNAI1):c.359G>A (p.Arg120Gln)
|
rs375547221
|
0.00001
|
NM_012144.4(DNAI1):c.389-6A>G
|
rs878854966
|
0.00001
|
NM_012144.4(DNAI1):c.518C>T (p.Thr173Ile)
|
rs1400236913
|
0.00001
|
NM_012144.4(DNAI1):c.550A>G (p.Lys184Glu)
|
rs1236356655
|
0.00001
|
NM_012144.4(DNAI1):c.619C>T (p.Arg207Trp)
|
rs749119217
|
0.00001
|
NM_012144.4(DNAI1):c.676A>C (p.Asn226His)
|
rs769349211
|
0.00001
|
NM_012144.4(DNAI1):c.697G>A (p.Ala233Thr)
|
rs747538328
|
0.00001
|
NM_012144.4(DNAI1):c.727A>G (p.Lys243Glu)
|
rs775818668
|
0.00001
|
NM_012144.4(DNAI1):c.783G>A (p.Met261Ile)
|
rs1299113119
|
0.00001
|
NM_012210.4(TRIM32):c.1004G>A (p.Ser335Asn)
|
rs778321975
|
0.00001
|
NM_012210.4(TRIM32):c.1039G>C (p.Glu347Gln)
|
rs1564217118
|
0.00001
|
NM_012210.4(TRIM32):c.1042G>T (p.Ala348Ser)
|
rs771427815
|
0.00001
|
NM_012210.4(TRIM32):c.1061A>G (p.Gln354Arg)
|
rs1266244841
|
0.00001
|
NM_012210.4(TRIM32):c.1081A>T (p.Met361Leu)
|
rs1262205918
|
0.00001
|
NM_012210.4(TRIM32):c.1115A>G (p.Asn372Ser)
|
rs781488306
|
0.00001
|
NM_012210.4(TRIM32):c.1124T>G (p.Val375Gly)
|
rs886044107
|
0.00001
|
NM_012210.4(TRIM32):c.1142G>A (p.Ser381Asn)
|
rs1432191841
|
0.00001
|
NM_012210.4(TRIM32):c.1153G>A (p.Val385Ile)
|
rs1564217317
|
0.00001
|
NM_012210.4(TRIM32):c.1162G>A (p.Ala388Thr)
|
rs886042328
|
0.00001
|
NM_012210.4(TRIM32):c.1196C>T (p.Thr399Ile)
|
rs1182257457
|
0.00001
|
NM_012210.4(TRIM32):c.119G>C (p.Gly40Ala)
|
rs1159231558
|
0.00001
|
NM_012210.4(TRIM32):c.1225C>T (p.Arg409Cys)
|
rs765158423
|
0.00001
|
NM_012210.4(TRIM32):c.1306A>G (p.Met436Val)
|
rs746383181
|
0.00001
|
NM_012210.4(TRIM32):c.1321C>G (p.Leu441Val)
|
rs987882732
|
0.00001
|
NM_012210.4(TRIM32):c.134G>A (p.Arg45His)
|
rs143760041
|
0.00001
|
NM_012210.4(TRIM32):c.1369T>G (p.Leu457Val)
|
rs1275345258
|
0.00001
|
NM_012210.4(TRIM32):c.136C>G (p.Gln46Glu)
|
rs1193048642
|
0.00001
|
NM_012210.4(TRIM32):c.1488C>G (p.Phe496Leu)
|
rs371233848
|
0.00001
|
NM_012210.4(TRIM32):c.1540G>A (p.Val514Met)
|
rs755369647
|
0.00001
|
NM_012210.4(TRIM32):c.1618C>T (p.Arg540Trp)
|
rs147803099
|
0.00001
|
NM_012210.4(TRIM32):c.1619G>A (p.Arg540Gln)
|
rs761503419
|
0.00001
|
NM_012210.4(TRIM32):c.1642G>A (p.Gly548Ser)
|
rs946701093
|
0.00001
|
NM_012210.4(TRIM32):c.1709C>T (p.Ser570Leu)
|
rs746590049
|
0.00001
|
NM_012210.4(TRIM32):c.1727G>A (p.Arg576His)
|
rs769518349
|
0.00001
|
NM_012210.4(TRIM32):c.176T>C (p.Val59Ala)
|
rs1261435168
|
0.00001
|
NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter)
|
rs199664043
|
0.00001
|
NM_012210.4(TRIM32):c.1853G>C (p.Cys618Ser)
|
rs777285202
|
0.00001
|
NM_012210.4(TRIM32):c.1855C>T (p.Pro619Ser)
|
rs368240408
|
0.00001
|
NM_012210.4(TRIM32):c.1860G>A (p.Val620=)
|
rs772336687
|
0.00001
|
NM_012210.4(TRIM32):c.1876C>T (p.Pro626Ser)
|
rs769128859
|
0.00001
|
NM_012210.4(TRIM32):c.1882G>A (p.Gly628Arg)
|
rs1360716233
|
0.00001
|
NM_012210.4(TRIM32):c.1931G>T (p.Ser644Ile)
|
rs765555919
|
0.00001
|
NM_012210.4(TRIM32):c.1954A>G (p.Thr652Ala)
|
rs763172140
|
0.00001
|
NM_012210.4(TRIM32):c.1957C>T (p.Pro653Ser)
|
rs899549661
|
0.00001
|
NM_012210.4(TRIM32):c.1959A>G (p.Pro653=)
|
rs1446030395
|
0.00001
|
NM_012210.4(TRIM32):c.236A>G (p.Asn79Ser)
|
rs775738712
|
0.00001
|
NM_012210.4(TRIM32):c.274A>G (p.Ser92Gly)
|
rs1860959982
|
0.00001
|
NM_012210.4(TRIM32):c.277G>A (p.Glu93Lys)
|
rs754449534
|
0.00001
|
NM_012210.4(TRIM32):c.284T>C (p.Val95Ala)
|
rs780885702
|
0.00001
|
NM_012210.4(TRIM32):c.325C>T (p.Arg109Trp)
|
rs776796546
|
0.00001
|
NM_012210.4(TRIM32):c.32T>C (p.Leu11Pro)
|
rs767818381
|
0.00001
|
NM_012210.4(TRIM32):c.371G>A (p.Arg124Gln)
|
rs750797541
|
0.00001
|
NM_012210.4(TRIM32):c.377C>T (p.Ala126Val)
|
rs755478136
|
0.00001
|
NM_012210.4(TRIM32):c.430G>A (p.Glu144Lys)
|
rs760202414
|
0.00001
|
NM_012210.4(TRIM32):c.43C>T (p.Arg15Trp)
|
rs1202455552
|
0.00001
|
NM_012210.4(TRIM32):c.44G>A (p.Arg15Gln)
|
rs1341334730
|
0.00001
|
NM_012210.4(TRIM32):c.464G>A (p.Arg155His)
|
rs777914761
|
0.00001
|
NM_012210.4(TRIM32):c.493C>T (p.Arg165Trp)
|
rs1378775801
|
0.00001
|
NM_012210.4(TRIM32):c.55G>C (p.Glu19Gln)
|
rs757287996
|
0.00001
|
NM_012210.4(TRIM32):c.577C>T (p.Arg193Cys)
|
rs568433214
|
0.00001
|
NM_012210.4(TRIM32):c.625T>C (p.Ser209Pro)
|
rs370534929
|
0.00001
|
NM_012210.4(TRIM32):c.650A>G (p.Asn217Ser)
|
rs374248541
|
0.00001
|
NM_012210.4(TRIM32):c.688A>G (p.Ile230Val)
|
rs139113969
|
0.00001
|
NM_012210.4(TRIM32):c.781G>A (p.Glu261Lys)
|
rs781333763
|
0.00001
|
NM_012210.4(TRIM32):c.809C>G (p.Pro270Arg)
|
rs1861004120
|
0.00001
|
NM_012210.4(TRIM32):c.889A>G (p.Lys297Glu)
|
rs759742371
|
0.00001
|
NM_012210.4(TRIM32):c.899C>T (p.Thr300Ile)
|
rs1010496243
|
0.00001
|
NM_012210.4(TRIM32):c.938C>T (p.Ala313Val)
|
rs794727284
|
0.00001
|
NM_012210.4(TRIM32):c.97C>T (p.Arg33Cys)
|
rs778141507
|
0.00001
|
NM_012472.6(DNAAF11):c.1027G>A (p.Val343Ile)
|
rs1451885715
|
0.00001
|
NM_012472.6(DNAAF11):c.1186A>G (p.Lys396Glu)
|
rs779471179
|
0.00001
|
NM_012472.6(DNAAF11):c.1211A>C (p.Glu404Ala)
|
rs1035489731
|
0.00001
|
NM_012472.6(DNAAF11):c.122A>G (p.Lys41Arg)
|
rs182327254
|
0.00001
|
NM_012472.6(DNAAF11):c.145C>G (p.Leu49Val)
|
rs775099366
|
0.00001
|
NM_012472.6(DNAAF11):c.220G>C (p.Ala74Pro)
|
rs397514596
|
0.00001
|
NM_012472.6(DNAAF11):c.389A>G (p.His130Arg)
|
rs777011841
|
0.00001
|
NM_012472.6(DNAAF11):c.525T>A (p.Asp175Glu)
|
rs1316268216
|
0.00001
|
NM_012472.6(DNAAF11):c.550A>C (p.Lys184Gln)
|
rs748737174
|
0.00001
|
NM_012472.6(DNAAF11):c.595G>A (p.Asp199Asn)
|
rs1003794367
|
0.00001
|
NM_012472.6(DNAAF11):c.675C>A (p.Asp225Glu)
|
rs1056548399
|
0.00001
|
NM_012472.6(DNAAF11):c.691G>C (p.Asp231His)
|
rs763823977
|
0.00001
|
NM_012472.6(DNAAF11):c.914+3A>G
|
rs764900666
|
0.00001
|
NM_012472.6(DNAAF11):c.989C>T (p.Ser330Phe)
|
rs756431151
|
0.00001
|
NM_014704.4(CEP104):c.14T>C (p.Ile5Thr)
|
rs778380560
|
0.00001
|
NM_014704.4(CEP104):c.2137C>G (p.Gln713Glu)
|
rs1311531310
|
0.00001
|
NM_014704.4(CEP104):c.22G>T (p.Val8Leu)
|
rs1195974342
|
0.00001
|
NM_014704.4(CEP104):c.2441G>A (p.Arg814His)
|
rs367663524
|
0.00001
|
NM_014704.4(CEP104):c.313A>G (p.Lys105Glu)
|
rs55720731
|
0.00001
|
NM_014704.4(CEP104):c.453T>G (p.Ile151Met)
|
rs757425751
|
0.00001
|
NM_014704.4(CEP104):c.686G>A (p.Arg229His)
|
rs1027030686
|
0.00001
|
NM_014714.4(IFT140):c.1090G>A (p.Glu364Lys)
|
rs1279456870
|
0.00001
|
NM_014714.4(IFT140):c.1096A>G (p.Lys366Glu)
|
rs776044753
|
0.00001
|
NM_014714.4(IFT140):c.1124C>T (p.Thr375Ile)
|
rs777159234
|
0.00001
|
NM_014714.4(IFT140):c.1133A>G (p.Gln378Arg)
|
rs1470456078
|
0.00001
|
NM_014714.4(IFT140):c.1156-6A>G
|
rs769650753
|
0.00001
|
NM_014714.4(IFT140):c.1216G>A (p.Glu406Lys)
|
rs755177677
|
0.00001
|
NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro)
|
rs770890983
|
0.00001
|
NM_014714.4(IFT140):c.1260G>A (p.Met420Ile)
|
rs2034748123
|
0.00001
|
NM_014714.4(IFT140):c.1301C>T (p.Thr434Met)
|
rs762293142
|
0.00001
|
NM_014714.4(IFT140):c.1321C>T (p.Arg441Cys)
|
rs758986711
|
0.00001
|
NM_014714.4(IFT140):c.1339A>G (p.Ser447Gly)
|
rs1030260747
|
0.00001
|
NM_014714.4(IFT140):c.1361A>G (p.Asp454Gly)
|
rs376263938
|
0.00001
|
NM_014714.4(IFT140):c.1402G>A (p.Glu468Lys)
|
rs756882000
|
0.00001
|
NM_014714.4(IFT140):c.1418C>T (p.Ala473Val)
|
rs765322119
|
0.00001
|
NM_014714.4(IFT140):c.1423C>T (p.Arg475Trp)
|
rs771838598
|
0.00001
|
NM_014714.4(IFT140):c.1433G>A (p.Gly478Glu)
|
rs1322686700
|
0.00001
|
NM_014714.4(IFT140):c.1440C>G (p.Phe480Leu)
|
rs770727161
|
0.00001
|
NM_014714.4(IFT140):c.1469A>G (p.His490Arg)
|
rs537123341
|
0.00001
|
NM_014714.4(IFT140):c.147+6T>C
|
rs1387119490
|
0.00001
|
NM_014714.4(IFT140):c.1553C>T (p.Ser518Leu)
|
rs761365882
|
0.00001
|
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile)
|
rs1321089981
|
0.00001
|
NM_014714.4(IFT140):c.155G>A (p.Cys52Tyr)
|
rs765500124
|
0.00001
|
NM_014714.4(IFT140):c.157G>A (p.Val53Met)
|
rs776811329
|
0.00001
|
NM_014714.4(IFT140):c.1585A>G (p.Ile529Val)
|
rs145895414
|
0.00001
|
NM_014714.4(IFT140):c.1607T>C (p.Val536Ala)
|
rs1206065799
|
0.00001
|
NM_014714.4(IFT140):c.1688C>T (p.Ala563Val)
|
rs968524691
|
0.00001
|
NM_014714.4(IFT140):c.1708G>C (p.Gly570Arg)
|
rs749278176
|
0.00001
|
NM_014714.4(IFT140):c.1741G>A (p.Gly581Arg)
|
rs532971915
|
0.00001
|
NM_014714.4(IFT140):c.1778A>C (p.Asn593Thr)
|
rs775630184
|
0.00001
|
NM_014714.4(IFT140):c.1807G>A (p.Asp603Asn)
|
rs138674110
|
0.00001
|
NM_014714.4(IFT140):c.182C>T (p.Pro61Leu)
|
rs757082667
|
0.00001
|
NM_014714.4(IFT140):c.1869G>C (p.Glu623Asp)
|
rs2033705618
|
0.00001
|
NM_014714.4(IFT140):c.1901+5G>A
|
rs999790368
|
0.00001
|
NM_014714.4(IFT140):c.2009C>T (p.Pro670Leu)
|
rs149845330
|
0.00001
|
NM_014714.4(IFT140):c.2012G>A (p.Arg671His)
|
rs1372026395
|
0.00001
|
NM_014714.4(IFT140):c.2053C>T (p.Arg685Cys)
|
rs778368172
|
0.00001
|
NM_014714.4(IFT140):c.2054G>A (p.Arg685His)
|
rs370263158
|
0.00001
|
NM_014714.4(IFT140):c.2078T>C (p.Leu693Ser)
|
rs370031319
|
0.00001
|
NM_014714.4(IFT140):c.2103A>G (p.Glu701=)
|
rs1567373288
|
0.00001
|
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala)
|
rs1057518064
|
0.00001
|
NM_014714.4(IFT140):c.217C>T (p.Arg73Trp)
|
rs201990219
|
0.00001
|
NM_014714.4(IFT140):c.2209G>A (p.Ala737Thr)
|
rs1161696291
|
0.00001
|
NM_014714.4(IFT140):c.2242C>T (p.His748Tyr)
|
rs760427350
|
0.00001
|
NM_014714.4(IFT140):c.2261T>C (p.Val754Ala)
|
rs754474621
|
0.00001
|
NM_014714.4(IFT140):c.2279G>A (p.Arg760Gln)
|
rs780086795
|
0.00001
|
NM_014714.4(IFT140):c.2303G>A (p.Cys768Tyr)
|
rs145283562
|
0.00001
|
NM_014714.4(IFT140):c.2318G>A (p.Arg773Gln)
|
rs140458893
|
0.00001
|
NM_014714.4(IFT140):c.2323G>A (p.Ala775Thr)
|
rs771255082
|
0.00001
|
NM_014714.4(IFT140):c.2438A>C (p.Lys813Thr)
|
rs1350594828
|
0.00001
|
NM_014714.4(IFT140):c.243G>T (p.Glu81Asp)
|
rs1199982756
|
0.00001
|
NM_014714.4(IFT140):c.2447G>A (p.Arg816Gln)
|
rs536061072
|
0.00001
|
NM_014714.4(IFT140):c.2455G>A (p.Val819Met)
|
rs766515079
|
0.00001
|
NM_014714.4(IFT140):c.2485C>T (p.His829Tyr)
|
rs921816941
|
0.00001
|
NM_014714.4(IFT140):c.2509C>T (p.Arg837Cys)
|
rs754073086
|
0.00001
|
NM_014714.4(IFT140):c.2536G>A (p.Glu846Lys)
|
rs896477215
|
0.00001
|
NM_014714.4(IFT140):c.2545G>A (p.Val849Met)
|
rs771662799
|
0.00001
|
NM_014714.4(IFT140):c.257C>T (p.Thr86Met)
|
rs1159315989
|
0.00001
|
NM_014714.4(IFT140):c.2686G>A (p.Asp896Asn)
|
rs775236964
|
0.00001
|
NM_014714.4(IFT140):c.2689C>T (p.Arg897Cys)
|
rs769761601
|
0.00001
|
NM_014714.4(IFT140):c.2690G>A (p.Arg897His)
|
rs745863942
|
0.00001
|
NM_014714.4(IFT140):c.2714A>G (p.His905Arg)
|
rs1255418645
|
0.00001
|
NM_014714.4(IFT140):c.2792G>A (p.Arg931His)
|
rs200088700
|
0.00001
|
NM_014714.4(IFT140):c.280G>A (p.Glu94Lys)
|
rs768102481
|
0.00001
|
NM_014714.4(IFT140):c.2815T>C (p.Ser939Pro)
|
rs145549969
|
0.00001
|
NM_014714.4(IFT140):c.2885C>T (p.Ala962Val)
|
rs1371411242
|
0.00001
|
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys)
|
rs143720412
|
0.00001
|
NM_014714.4(IFT140):c.2912T>C (p.Met971Thr)
|
rs761061336
|
0.00001
|
NM_014714.4(IFT140):c.2921C>T (p.Ala974Val)
|
rs745576178
|
0.00001
|
NM_014714.4(IFT140):c.2984G>T (p.Gly995Val)
|
rs772919008
|
0.00001
|
NM_014714.4(IFT140):c.3016G>A (p.Glu1006Lys)
|
rs375292299
|
0.00001
|
NM_014714.4(IFT140):c.3076G>A (p.Val1026Ile)
|
rs779289178
|
0.00001
|
NM_014714.4(IFT140):c.3077T>C (p.Val1026Ala)
|
rs755333071
|
0.00001
|
NM_014714.4(IFT140):c.3086C>T (p.Ala1029Val)
|
rs757852837
|
0.00001
|
NM_014714.4(IFT140):c.3131G>A (p.Arg1044His)
|
rs577498082
|
0.00001
|
NM_014714.4(IFT140):c.3218A>G (p.Tyr1073Cys)
|
rs777230794
|
0.00001
|
NM_014714.4(IFT140):c.3223G>A (p.Glu1075Lys)
|
rs936261766
|
0.00001
|
NM_014714.4(IFT140):c.3226G>A (p.Glu1076Lys)
|
rs773620301
|
0.00001
|
NM_014714.4(IFT140):c.3251C>A (p.Ala1084Glu)
|
rs757199524
|
0.00001
|
NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr)
|
rs760652531
|
0.00001
|
NM_014714.4(IFT140):c.3348C>A (p.Asp1116Glu)
|
rs1438729385
|
0.00001
|
NM_014714.4(IFT140):c.3359C>T (p.Thr1120Met)
|
rs756215215
|
0.00001
|
NM_014714.4(IFT140):c.3418G>A (p.Glu1140Lys)
|
rs564935788
|
0.00001
|
NM_014714.4(IFT140):c.3453+4C>T
|
rs367744951
|
0.00001
|
NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu)
|
rs772423904
|
0.00001
|
NM_014714.4(IFT140):c.3512C>T (p.Ala1171Val)
|
rs1158940284
|
0.00001
|
NM_014714.4(IFT140):c.3563G>A (p.Arg1188Gln)
|
rs780533679
|
0.00001
|
NM_014714.4(IFT140):c.3566G>A (p.Arg1189Gln)
|
rs149837281
|
0.00001
|
NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg)
|
rs754978656
|
0.00001
|
NM_014714.4(IFT140):c.3601C>T (p.Arg1201Cys)
|
rs368685855
|
0.00001
|
NM_014714.4(IFT140):c.3633G>C (p.Lys1211Asn)
|
rs771772194
|
0.00001
|
NM_014714.4(IFT140):c.3767C>T (p.Ser1256Phe)
|
rs1325819285
|
0.00001
|
NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu)
|
rs775044452
|
0.00001
|
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp)
|
rs773768491
|
0.00001
|
NM_014714.4(IFT140):c.3913G>A (p.Gly1305Arg)
|
rs755596826
|
0.00001
|
NM_014714.4(IFT140):c.3928G>A (p.Ala1310Thr)
|
rs1055889482
|
0.00001
|
NM_014714.4(IFT140):c.3958A>G (p.Lys1320Glu)
|
rs776809726
|
0.00001
|
NM_014714.4(IFT140):c.4040+4T>A
|
rs1402787371
|
0.00001
|
NM_014714.4(IFT140):c.4073A>G (p.Lys1358Arg)
|
rs763363588
|
0.00001
|
NM_014714.4(IFT140):c.4076A>G (p.Gln1359Arg)
|
rs907401737
|
0.00001
|
NM_014714.4(IFT140):c.4104C>A (p.Asp1368Glu)
|
rs746684542
|
0.00001
|
NM_014714.4(IFT140):c.4172A>G (p.Glu1391Gly)
|
rs1386350816
|
0.00001
|
NM_014714.4(IFT140):c.4182+4A>C
|
rs1439771269
|
0.00001
|
NM_014714.4(IFT140):c.4210C>T (p.Arg1404Trp)
|
rs1465721813
|
0.00001
|
NM_014714.4(IFT140):c.4267G>A (p.Val1423Met)
|
rs756711276
|
0.00001
|
NM_014714.4(IFT140):c.4300A>G (p.Thr1434Ala)
|
rs761959670
|
0.00001
|
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp)
|
rs755315693
|
0.00001
|
NM_014714.4(IFT140):c.488G>T (p.Gly163Val)
|
rs1368823319
|
0.00001
|
NM_014714.4(IFT140):c.529G>A (p.Asp177Asn)
|
rs774439512
|
0.00001
|
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr)
|
rs555382397
|
0.00001
|
NM_014714.4(IFT140):c.740T>C (p.Val247Ala)
|
rs1231656459
|
0.00001
|
NM_014714.4(IFT140):c.752A>G (p.Asn251Ser)
|
rs1277927981
|
0.00001
|
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe)
|
rs1442341163
|
0.00001
|
NM_014714.4(IFT140):c.877A>T (p.Met293Leu)
|
rs761441382
|
0.00001
|
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp)
|
rs1330112951
|
0.00001
|
NM_014956.5(CEP164):c.112A>G (p.Ile38Val)
|
rs978689124
|
0.00001
|
NM_014956.5(CEP164):c.1144G>A (p.Ala382Thr)
|
rs780364658
|
0.00001
|
NM_014956.5(CEP164):c.1161_1163del (p.Glu387_Ile388delinsAsp)
|
rs1347609515
|
0.00001
|
NM_014956.5(CEP164):c.1226A>G (p.His409Arg)
|
rs747489061
|
0.00001
|
NM_014956.5(CEP164):c.1252C>T (p.Arg418Trp)
|
rs575328059
|
0.00001
|
NM_014956.5(CEP164):c.1259C>T (p.Ser420Leu)
|
rs1324951273
|
0.00001
|
NM_014956.5(CEP164):c.13C>A (p.Pro5Thr)
|
rs749869599
|
0.00001
|
NM_014956.5(CEP164):c.1409+6A>G
|
rs762497915
|
0.00001
|
NM_014956.5(CEP164):c.1410-11G>A
|
rs537713728
|
0.00001
|
NM_014956.5(CEP164):c.1439G>A (p.Arg480Gln)
|
rs573209223
|
0.00001
|
NM_014956.5(CEP164):c.1457G>A (p.Arg486His)
|
rs545471229
|
0.00001
|
NM_014956.5(CEP164):c.1492C>A (p.Pro498Thr)
|
rs765811586
|
0.00001
|
NM_014956.5(CEP164):c.155A>C (p.Glu52Ala)
|
rs541149150
|
0.00001
|
NM_014956.5(CEP164):c.1615G>A (p.Gly539Ser)
|
rs758286092
|
0.00001
|
NM_014956.5(CEP164):c.1628A>G (p.His543Arg)
|
rs780941204
|
0.00001
|
NM_014956.5(CEP164):c.1666G>A (p.Ala556Thr)
|
rs943322658
|
0.00001
|
NM_014956.5(CEP164):c.1725-3T>C
|
rs940650344
|
0.00001
|
NM_014956.5(CEP164):c.1727G>A (p.Arg576Gln)
|
rs757579833
|
0.00001
|
NM_014956.5(CEP164):c.1759C>T (p.Leu587Phe)
|
rs923498039
|
0.00001
|
NM_014956.5(CEP164):c.1765G>C (p.Glu589Gln)
|
rs143553347
|
0.00001
|
NM_014956.5(CEP164):c.1810G>A (p.Glu604Lys)
|
rs187622644
|
0.00001
|
NM_014956.5(CEP164):c.1812G>T (p.Glu604Asp)
|
rs1222181370
|
0.00001
|
NM_014956.5(CEP164):c.1864C>T (p.Arg622Trp)
|
rs760666687
|
0.00001
|
NM_014956.5(CEP164):c.1904G>A (p.Arg635Gln)
|
rs763183525
|
0.00001
|
NM_014956.5(CEP164):c.1930C>T (p.Leu644Phe)
|
rs1445485693
|
0.00001
|
NM_014956.5(CEP164):c.1981C>T (p.Arg661Trp)
|
rs201175046
|
0.00001
|
NM_014956.5(CEP164):c.2084C>T (p.Ser695Phe)
|
rs749213655
|
0.00001
|
NM_014956.5(CEP164):c.20G>A (p.Arg7His)
|
rs1413886061
|
0.00001
|
NM_014956.5(CEP164):c.2120A>T (p.Gln707Leu)
|
rs780538516
|
0.00001
|
NM_014956.5(CEP164):c.2198A>G (p.Glu733Gly)
|
rs746693932
|
0.00001
|
NM_014956.5(CEP164):c.2294C>T (p.Thr765Met)
|
rs140009020
|
0.00001
|
NM_014956.5(CEP164):c.2414C>T (p.Ala805Val)
|
rs555087707
|
0.00001
|
NM_014956.5(CEP164):c.2473G>A (p.Val825Met)
|
rs373870559
|
0.00001
|
NM_014956.5(CEP164):c.2491G>A (p.Glu831Lys)
|
rs977065085
|
0.00001
|
NM_014956.5(CEP164):c.2605T>C (p.Tyr869His)
|
rs774896440
|
0.00001
|
NM_014956.5(CEP164):c.2629C>T (p.Arg877Trp)
|
rs986338516
|
0.00001
|
NM_014956.5(CEP164):c.2654C>A (p.Thr885Asn)
|
rs753347841
|
0.00001
|
NM_014956.5(CEP164):c.2668C>T (p.Arg890Cys)
|
rs772514202
|
0.00001
|
NM_014956.5(CEP164):c.2776G>C (p.Asp926His)
|
rs751259435
|
0.00001
|
NM_014956.5(CEP164):c.2784G>T (p.Glu928Asp)
|
rs143446218
|
0.00001
|
NM_014956.5(CEP164):c.2866A>G (p.Lys956Glu)
|
rs1217613639
|
0.00001
|
NM_014956.5(CEP164):c.2884G>A (p.Val962Met)
|
rs750570669
|
0.00001
|
NM_014956.5(CEP164):c.2906A>G (p.Lys969Arg)
|
rs1416554475
|
0.00001
|
NM_014956.5(CEP164):c.3058G>A (p.Ala1020Thr)
|
rs1316999665
|
0.00001
|
NM_014956.5(CEP164):c.3089+6G>A
|
rs374896228
|
0.00001
|
NM_014956.5(CEP164):c.3133G>C (p.Glu1045Gln)
|
rs752093126
|
0.00001
|
NM_014956.5(CEP164):c.3172G>C (p.Glu1058Gln)
|
rs748972612
|
0.00001
|
NM_014956.5(CEP164):c.3206C>T (p.Ser1069Phe)
|
rs142722515
|
0.00001
|
NM_014956.5(CEP164):c.3242C>T (p.Ser1081Phe)
|
rs201488532
|
0.00001
|
NM_014956.5(CEP164):c.3254G>A (p.Ser1085Asn)
|
rs562234273
|
0.00001
|
NM_014956.5(CEP164):c.3262G>A (p.Asp1088Asn)
|
rs760736423
|
0.00001
|
NM_014956.5(CEP164):c.3304C>T (p.Leu1102Phe)
|
rs1307328675
|
0.00001
|
NM_014956.5(CEP164):c.3335G>A (p.Ser1112Asn)
|
rs1182752473
|
0.00001
|
NM_014956.5(CEP164):c.3380G>A (p.Arg1127Gln)
|
rs753895198
|
0.00001
|
NM_014956.5(CEP164):c.3464T>A (p.Ile1155Asn)
|
rs1341181625
|
0.00001
|
NM_014956.5(CEP164):c.3483G>A (p.Met1161Ile)
|
rs757309937
|
0.00001
|
NM_014956.5(CEP164):c.3485G>A (p.Arg1162His)
|
rs758759503
|
0.00001
|
NM_014956.5(CEP164):c.3494T>C (p.Leu1165Pro)
|
rs747917840
|
0.00001
|
NM_014956.5(CEP164):c.3505A>G (p.Thr1169Ala)
|
rs535589696
|
0.00001
|
NM_014956.5(CEP164):c.3646A>G (p.Lys1216Glu)
|
rs1431305580
|
0.00001
|
NM_014956.5(CEP164):c.3677T>C (p.Met1226Thr)
|
rs1190524819
|
0.00001
|
NM_014956.5(CEP164):c.3680A>G (p.Asp1227Gly)
|
rs765899402
|
0.00001
|
NM_014956.5(CEP164):c.3692G>A (p.Ser1231Asn)
|
rs950631722
|
0.00001
|
NM_014956.5(CEP164):c.3703G>C (p.Glu1235Gln)
|
rs1179932970
|
0.00001
|
NM_014956.5(CEP164):c.3737G>A (p.Arg1246Gln)
|
rs147208889
|
0.00001
|
NM_014956.5(CEP164):c.3741G>T (p.Gln1247His)
|
rs963921685
|
0.00001
|
NM_014956.5(CEP164):c.3775C>T (p.Arg1259Cys)
|
rs780550729
|
0.00001
|
NM_014956.5(CEP164):c.3805C>T (p.Arg1269Trp)
|
rs142578192
|
0.00001
|
NM_014956.5(CEP164):c.386G>C (p.Ser129Thr)
|
rs919243922
|
0.00001
|
NM_014956.5(CEP164):c.389C>T (p.Ser130Leu)
|
rs1006672566
|
0.00001
|
NM_014956.5(CEP164):c.3944A>G (p.Tyr1315Cys)
|
rs1171979946
|
0.00001
|
NM_014956.5(CEP164):c.3955G>A (p.Ala1319Thr)
|
rs769207410
|
0.00001
|
NM_014956.5(CEP164):c.4036T>C (p.Ser1346Pro)
|
rs774024619
|
0.00001
|
NM_014956.5(CEP164):c.4081C>T (p.Arg1361Cys)
|
rs753906680
|
0.00001
|
NM_014956.5(CEP164):c.4085A>G (p.Lys1362Arg)
|
rs1338246093
|
0.00001
|
NM_014956.5(CEP164):c.4096T>G (p.Ser1366Ala)
|
rs1360828180
|
0.00001
|
NM_014956.5(CEP164):c.4103T>C (p.Ile1368Thr)
|
rs180911439
|
0.00001
|
NM_014956.5(CEP164):c.4174C>T (p.Arg1392Trp)
|
rs769676851
|
0.00001
|
NM_014956.5(CEP164):c.4175G>A (p.Arg1392Gln)
|
rs772989312
|
0.00001
|
NM_014956.5(CEP164):c.418G>A (p.Val140Ile)
|
rs778310001
|
0.00001
|
NM_014956.5(CEP164):c.4211C>T (p.Ala1404Val)
|
rs191488031
|
0.00001
|
NM_014956.5(CEP164):c.422A>G (p.His141Arg)
|
rs200045306
|
0.00001
|
NM_014956.5(CEP164):c.452G>A (p.Arg151Gln)
|
rs564746056
|
0.00001
|
NM_014956.5(CEP164):c.485G>T (p.Arg162Leu)
|
rs139763142
|
0.00001
|
NM_014956.5(CEP164):c.50A>G (p.Asp17Gly)
|
rs140963454
|
0.00001
|
NM_014956.5(CEP164):c.530G>A (p.Arg177His)
|
rs199701600
|
0.00001
|
NM_014956.5(CEP164):c.678T>G (p.Ser226Arg)
|
rs199924960
|
0.00001
|
NM_014956.5(CEP164):c.698G>A (p.Ser233Asn)
|
rs755237805
|
0.00001
|
NM_014956.5(CEP164):c.760T>C (p.Tyr254His)
|
rs750854769
|
0.00001
|
NM_014956.5(CEP164):c.854C>G (p.Ser285Cys)
|
rs764958657
|
0.00001
|
NM_014956.5(CEP164):c.902G>A (p.Arg301Gln)
|
rs769627423
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1000A>G (p.Met334Val)
|
rs1182455258
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1010C>T (p.Ser337Phe)
|
rs747867189
|
0.00001
|
NM_015272.5(RPGRIP1L):c.101G>A (p.Arg34Gln)
|
rs761513762
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1064G>A (p.Arg355Gln)
|
rs758759988
|
0.00001
|
NM_015272.5(RPGRIP1L):c.106A>G (p.Met36Val)
|
rs867836079
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1103+5A>G
|
rs773167560
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1150C>G (p.Gln384Glu)
|
rs1968112121
|
0.00001
|
NM_015272.5(RPGRIP1L):c.116G>A (p.Arg39His)
|
rs886042345
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1190A>C (p.Lys397Thr)
|
rs571212511
|
0.00001
|
NM_015272.5(RPGRIP1L):c.122C>T (p.Ala41Val)
|
rs1365531088
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1257A>T (p.Lys419Asn)
|
rs976533506
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1289A>T (p.Gln430Leu)
|
rs770032567
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1329A>C (p.Lys443Asn)
|
rs777834264
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1330C>T (p.Arg444Cys)
|
rs1296403401
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1376T>G (p.Leu459Trp)
|
rs1430832205
|
0.00001
|
NM_015272.5(RPGRIP1L):c.144G>C (p.Glu48Asp)
|
rs377512064
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1483A>G (p.Met495Val)
|
rs781046784
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1574A>G (p.Asp525Gly)
|
rs371841392
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1610T>C (p.Met537Thr)
|
rs752785301
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1636C>T (p.Leu546Phe)
|
rs147331527
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1657C>A (p.His553Asn)
|
rs145516192
|
0.00001
|
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys)
|
rs755258407
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys)
|
rs781713688
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1700C>T (p.Ala567Val)
|
rs553739434
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1748C>G (p.Pro583Arg)
|
rs548348340
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1785T>A (p.Asp595Glu)
|
rs775017742
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1809C>T (p.Gly603=)
|
rs375766769
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1840G>C (p.Val614Leu)
|
rs750811808
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1867G>C (p.Ala623Pro)
|
rs776297522
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1895T>G (p.Phe632Cys)
|
rs1381232476
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1936C>T (p.Pro646Ser)
|
rs1442222835
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp)
|
rs201737322
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1990C>G (p.His664Asp)
|
rs763167296
|
0.00001
|
NM_015272.5(RPGRIP1L):c.205C>T (p.Arg69Cys)
|
rs775007896
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2078T>C (p.Ile693Thr)
|
rs766197081
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2096A>G (p.Lys699Arg)
|
rs764289143
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2120G>T (p.Ser707Ile)
|
rs151281974
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln)
|
rs117364872
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2301G>T (p.Gln767His)
|
rs1338012833
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile)
|
rs771545136
|
0.00001
|
NM_015272.5(RPGRIP1L):c.235G>A (p.Ala79Thr)
|
rs763182141
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2474A>G (p.His825Arg)
|
rs752772082
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2476G>A (p.Asp826Asn)
|
rs746015353
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2519A>G (p.Asp840Gly)
|
rs949487941
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2571G>C (p.Lys857Asn)
|
rs149833407
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2579C>G (p.Ser860Cys)
|
rs768030202
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2590T>C (p.Tyr864His)
|
rs1480250597
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2666A>G (p.His889Arg)
|
rs1228542037
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2672G>A (p.Arg891Lys)
|
rs200531735
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2723G>A (p.Gly908Asp)
|
rs1478290807
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2789A>C (p.Glu930Ala)
|
rs374694596
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2878C>T (p.Pro960Ser)
|
rs1187280209
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3089T>C (p.Val1030Ala)
|
rs1965937862
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile)
|
rs780672507
|
0.00001
|
NM_015272.5(RPGRIP1L):c.316G>A (p.Val106Met)
|
rs1970438037
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3255C>A (p.Asp1085Glu)
|
rs1965840419
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3263T>G (p.Ile1088Ser)
|
rs1185071339
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3271C>A (p.Pro1091Thr)
|
rs1436900505
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3295-9T>G
|
rs1406378943
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr)
|
rs539084201
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3356G>A (p.Arg1119His)
|
rs1207253947
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3432+6T>G
|
rs543688285
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu)
|
rs886038619
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3475A>G (p.Asn1159Asp)
|
rs774549370
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3491C>T (p.Thr1164Ile)
|
rs745796721
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn)
|
rs746806282
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3530G>A (p.Arg1177Gln)
|
rs754491479
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile)
|
rs905516252
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3545C>T (p.Pro1182Leu)
|
rs1446510817
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3611G>A (p.Ser1204Asn)
|
rs746750855
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3617-3T>C
|
rs1964004072
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3670A>G (p.Ile1224Val)
|
rs778319575
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3701+3A>G
|
rs188594966
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3701+4T>C
|
rs767564258
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3764T>C (p.Ile1255Thr)
|
rs749664648
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile)
|
rs781401167
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3818T>C (p.Ile1273Thr)
|
rs764832127
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3819T>G (p.Ile1273Met)
|
rs1244061656
|
0.00001
|
NM_015272.5(RPGRIP1L):c.386T>A (p.Leu129His)
|
rs927281262
|
0.00001
|
NM_015272.5(RPGRIP1L):c.446C>T (p.Pro149Leu)
|
rs1406955571
|
0.00001
|
NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp)
|
rs769611947
|
0.00001
|
NM_015272.5(RPGRIP1L):c.643A>G (p.Ile215Val)
|
rs930198445
|
0.00001
|
NM_015272.5(RPGRIP1L):c.728T>C (p.Ile243Thr)
|
rs766117001
|
0.00001
|
NM_015272.5(RPGRIP1L):c.747G>C (p.Gln249His)
|
rs1970020650
|
0.00001
|
NM_015512.5(DNAH1):c.10076G>A (p.Gly3359Asp)
|
rs1437972390
|
0.00001
|
NM_015512.5(DNAH1):c.10150C>T (p.Arg3384Cys)
|
rs775624344
|
0.00001
|
NM_015512.5(DNAH1):c.10184T>C (p.Leu3395Pro)
|
rs1446360887
|
0.00001
|
NM_015512.5(DNAH1):c.1019G>C (p.Gly340Ala)
|
rs963552743
|
0.00001
|
NM_015512.5(DNAH1):c.10228G>C (p.Glu3410Gln)
|
rs756718622
|
0.00001
|
NM_015512.5(DNAH1):c.10306G>C (p.Glu3436Gln)
|
rs1270529658
|
0.00001
|
NM_015512.5(DNAH1):c.10489C>T (p.Arg3497Cys)
|
rs1011281568
|
0.00001
|
NM_015512.5(DNAH1):c.1049A>G (p.Gln350Arg)
|
rs1429583662
|
0.00001
|
NM_015512.5(DNAH1):c.10649C>A (p.Ser3550Tyr)
|
rs1194381158
|
0.00001
|
NM_015512.5(DNAH1):c.10664C>T (p.Ser3555Leu)
|
rs369548008
|
0.00001
|
NM_015512.5(DNAH1):c.10688C>T (p.Pro3563Leu)
|
rs866647249
|
0.00001
|
NM_015512.5(DNAH1):c.10763C>G (p.Ser3588Cys)
|
rs138604187
|
0.00001
|
NM_015512.5(DNAH1):c.10806C>G (p.Asp3602Glu)
|
rs370017937
|
0.00001
|
NM_015512.5(DNAH1):c.10997A>T (p.Asp3666Val)
|
rs1418695580
|
0.00001
|
NM_015512.5(DNAH1):c.11063A>G (p.Tyr3688Cys)
|
rs369995851
|
0.00001
|
NM_015512.5(DNAH1):c.11251C>G (p.Pro3751Ala)
|
rs1371620189
|
0.00001
|
NM_015512.5(DNAH1):c.1142T>C (p.Leu381Pro)
|
rs773919327
|
0.00001
|
NM_015512.5(DNAH1):c.11528A>G (p.Tyr3843Cys)
|
rs776417515
|
0.00001
|
NM_015512.5(DNAH1):c.11647G>A (p.Gly3883Ser)
|
rs375133650
|
0.00001
|
NM_015512.5(DNAH1):c.11671C>T (p.Arg3891Trp)
|
rs774152723
|
0.00001
|
NM_015512.5(DNAH1):c.11727T>A (p.Pro3909=)
|
rs545558021
|
0.00001
|
NM_015512.5(DNAH1):c.11861A>C (p.Asn3954Thr)
|
rs769848353
|
0.00001
|
NM_015512.5(DNAH1):c.11958+5G>C
|
rs749479420
|
0.00001
|
NM_015512.5(DNAH1):c.11971G>A (p.Val3991Ile)
|
rs779098163
|
0.00001
|
NM_015512.5(DNAH1):c.12228T>A (p.Ser4076Arg)
|
rs754282864
|
0.00001
|
NM_015512.5(DNAH1):c.12286C>T (p.Arg4096Cys)
|
rs375547860
|
0.00001
|
NM_015512.5(DNAH1):c.12397C>T (p.Arg4133Cys)
|
rs776800142
|
0.00001
|
NM_015512.5(DNAH1):c.12572T>C (p.Leu4191Pro)
|
rs370146778
|
0.00001
|
NM_015512.5(DNAH1):c.12617G>A (p.Arg4206His)
|
rs528880647
|
0.00001
|
NM_015512.5(DNAH1):c.12635A>T (p.Asp4212Val)
|
rs201759347
|
0.00001
|
NM_015512.5(DNAH1):c.12757A>G (p.Ile4253Val)
|
rs527445118
|
0.00001
|
NM_015512.5(DNAH1):c.1516C>T (p.Arg506Trp)
|
rs532226080
|
0.00001
|
NM_015512.5(DNAH1):c.1517G>A (p.Arg506Gln)
|
rs375629993
|
0.00001
|
NM_015512.5(DNAH1):c.1528A>G (p.Ile510Val)
|
rs1425420501
|
0.00001
|
NM_015512.5(DNAH1):c.1657-4C>G
|
rs1345084740
|
0.00001
|
NM_015512.5(DNAH1):c.1723G>A (p.Asp575Asn)
|
rs1024573062
|
0.00001
|
NM_015512.5(DNAH1):c.1790G>A (p.Arg597His)
|
rs373434606
|
0.00001
|
NM_015512.5(DNAH1):c.2104A>C (p.Lys702Gln)
|
rs754431164
|
0.00001
|
NM_015512.5(DNAH1):c.2134G>A (p.Gly712Ser)
|
rs777353076
|
0.00001
|
NM_015512.5(DNAH1):c.2144T>A (p.Leu715Gln)
|
rs867803314
|
0.00001
|
NM_015512.5(DNAH1):c.2242G>A (p.Ala748Thr)
|
rs1360391376
|
0.00001
|
NM_015512.5(DNAH1):c.2246A>G (p.Lys749Arg)
|
rs768573779
|
0.00001
|
NM_015512.5(DNAH1):c.2255G>C (p.Arg752Pro)
|
rs749446487
|
0.00001
|
NM_015512.5(DNAH1):c.2300+5G>A
|
rs781060120
|
0.00001
|
NM_015512.5(DNAH1):c.241C>T (p.Pro81Ser)
|
rs770488524
|
0.00001
|
NM_015512.5(DNAH1):c.2849A>G (p.Gln950Arg)
|
rs747471047
|
0.00001
|
NM_015512.5(DNAH1):c.3001C>T (p.Arg1001Cys)
|
rs923937332
|
0.00001
|
NM_015512.5(DNAH1):c.3046A>T (p.Met1016Leu)
|
rs767725838
|
0.00001
|
NM_015512.5(DNAH1):c.3169G>A (p.Val1057Met)
|
rs570416427
|
0.00001
|
NM_015512.5(DNAH1):c.3305G>A (p.Arg1102His)
|
rs746027255
|
0.00001
|
NM_015512.5(DNAH1):c.3326G>A (p.Arg1109Gln)
|
rs762291689
|
0.00001
|
NM_015512.5(DNAH1):c.3426C>G (p.Ile1142Met)
|
rs781118318
|
0.00001
|
NM_015512.5(DNAH1):c.3512C>T (p.Thr1171Ile)
|
rs1363854699
|
0.00001
|
NM_015512.5(DNAH1):c.3574G>A (p.Glu1192Lys)
|
rs773780728
|
0.00001
|
NM_015512.5(DNAH1):c.3658A>G (p.Ile1220Val)
|
rs769690333
|
0.00001
|
NM_015512.5(DNAH1):c.373C>T (p.Arg125Trp)
|
rs745363325
|
0.00001
|
NM_015512.5(DNAH1):c.3858+10A>G
|
rs930130674
|
0.00001
|
NM_015512.5(DNAH1):c.3915G>C (p.Lys1305Asn)
|
rs1004871183
|
0.00001
|
NM_015512.5(DNAH1):c.4045G>A (p.Val1349Met)
|
rs748397704
|
0.00001
|
NM_015512.5(DNAH1):c.4081G>A (p.Ala1361Thr)
|
rs1464145145
|
0.00001
|
NM_015512.5(DNAH1):c.4115C>T (p.Thr1372Met)
|
rs374644342
|
0.00001
|
NM_015512.5(DNAH1):c.4122G>A (p.Met1374Ile)
|
rs982525821
|
0.00001
|
NM_015512.5(DNAH1):c.4196G>A (p.Arg1399Gln)
|
rs759559144
|
0.00001
|
NM_015512.5(DNAH1):c.4309A>G (p.Thr1437Ala)
|
rs1334897226
|
0.00001
|
NM_015512.5(DNAH1):c.442C>T (p.Arg148Cys)
|
rs1438410477
|
0.00001
|
NM_015512.5(DNAH1):c.4435G>C (p.Gly1479Arg)
|
rs371500729
|
0.00001
|
NM_015512.5(DNAH1):c.4670C>T (p.Thr1557Met)
|
rs371364322
|
0.00001
|
NM_015512.5(DNAH1):c.4705G>A (p.Gly1569Arg)
|
rs758847297
|
0.00001
|
NM_015512.5(DNAH1):c.4874+13A>G
|
rs1277485162
|
0.00001
|
NM_015512.5(DNAH1):c.4952C>T (p.Thr1651Ile)
|
rs777405979
|
0.00001
|
NM_015512.5(DNAH1):c.5062G>A (p.Ala1688Thr)
|
rs755991808
|
0.00001
|
NM_015512.5(DNAH1):c.5116A>G (p.Met1706Val)
|
rs1303254929
|
0.00001
|
NM_015512.5(DNAH1):c.5252A>G (p.Tyr1751Cys)
|
rs1262767404
|
0.00001
|
NM_015512.5(DNAH1):c.5311G>A (p.Glu1771Lys)
|
rs1479169341
|
0.00001
|
NM_015512.5(DNAH1):c.5347C>T (p.Arg1783Trp)
|
rs759947620
|
0.00001
|
NM_015512.5(DNAH1):c.5458G>A (p.Gly1820Ser)
|
rs751526472
|
0.00001
|
NM_015512.5(DNAH1):c.548C>T (p.Pro183Leu)
|
rs181177631
|
0.00001
|
NM_015512.5(DNAH1):c.5528C>A (p.Thr1843Lys)
|
rs368356036
|
0.00001
|
NM_015512.5(DNAH1):c.5546A>G (p.Tyr1849Cys)
|
rs769961405
|
0.00001
|
NM_015512.5(DNAH1):c.5953A>G (p.Met1985Val)
|
rs376873184
|
0.00001
|
NM_015512.5(DNAH1):c.6002C>T (p.Ser2001Phe)
|
rs772200369
|
0.00001
|
NM_015512.5(DNAH1):c.6052T>G (p.Phe2018Val)
|
rs377384146
|
0.00001
|
NM_015512.5(DNAH1):c.605T>C (p.Leu202Pro)
|
rs1395611267
|
0.00001
|
NM_015512.5(DNAH1):c.6133C>G (p.Leu2045Val)
|
rs770199041
|
0.00001
|
NM_015512.5(DNAH1):c.6253A>G (p.Arg2085Gly)
|
rs772617206
|
0.00001
|
NM_015512.5(DNAH1):c.6433C>T (p.Pro2145Ser)
|
rs1476385255
|
0.00001
|
NM_015512.5(DNAH1):c.6436G>C (p.Glu2146Gln)
|
rs946605027
|
0.00001
|
NM_015512.5(DNAH1):c.658C>T (p.Pro220Ser)
|
rs370296891
|
0.00001
|
NM_015512.5(DNAH1):c.6644T>C (p.Met2215Thr)
|
rs765762844
|
0.00001
|
NM_015512.5(DNAH1):c.6650T>C (p.Leu2217Pro)
|
rs1044027374
|
0.00001
|
NM_015512.5(DNAH1):c.6733C>G (p.Leu2245Val)
|
rs765020173
|
0.00001
|
NM_015512.5(DNAH1):c.6860G>A (p.Arg2287His)
|
rs760638746
|
0.00001
|
NM_015512.5(DNAH1):c.6890A>C (p.Asn2297Thr)
|
rs988757529
|
0.00001
|
NM_015512.5(DNAH1):c.6941G>A (p.Arg2314His)
|
rs759815756
|
0.00001
|
NM_015512.5(DNAH1):c.6999C>G (p.Asn2333Lys)
|
rs1274495133
|
0.00001
|
NM_015512.5(DNAH1):c.7066C>T (p.Arg2356Trp)
|
rs780050981
|
0.00001
|
NM_015512.5(DNAH1):c.7142T>C (p.Ile2381Thr)
|
rs552394693
|
0.00001
|
NM_015512.5(DNAH1):c.7150A>C (p.Asn2384His)
|
rs1403012259
|
0.00001
|
NM_015512.5(DNAH1):c.7198+4A>C
|
rs548883682
|
0.00001
|
NM_015512.5(DNAH1):c.7227G>A (p.Thr2409=)
|
rs776100134
|
0.00001
|
NM_015512.5(DNAH1):c.738+20A>G
|
rs1168790778
|
0.00001
|
NM_015512.5(DNAH1):c.7487G>T (p.Cys2496Phe)
|
rs747106981
|
0.00001
|
NM_015512.5(DNAH1):c.754G>A (p.Asp252Asn)
|
rs1315748049
|
0.00001
|
NM_015512.5(DNAH1):c.7612A>T (p.Met2538Leu)
|
rs757228664
|
0.00001
|
NM_015512.5(DNAH1):c.7625A>G (p.Glu2542Gly)
|
rs1160595853
|
0.00001
|
NM_015512.5(DNAH1):c.7733C>T (p.Ala2578Val)
|
rs1479974777
|
0.00001
|
NM_015512.5(DNAH1):c.7739G>T (p.Gly2580Val)
|
rs1703856754
|
0.00001
|
NM_015512.5(DNAH1):c.7758C>T (p.Gly2586=)
|
rs777996660
|
0.00001
|
NM_015512.5(DNAH1):c.7771G>A (p.Gly2591Ser)
|
rs762413952
|
0.00001
|
NM_015512.5(DNAH1):c.7789A>T (p.Arg2597Trp)
|
rs1382384885
|
0.00001
|
NM_015512.5(DNAH1):c.7805+6C>T
|
rs370368596
|
0.00001
|
NM_015512.5(DNAH1):c.7816G>A (p.Glu2606Lys)
|
rs751973219
|
0.00001
|
NM_015512.5(DNAH1):c.8108C>T (p.Thr2703Ile)
|
rs763545067
|
0.00001
|
NM_015512.5(DNAH1):c.8113C>T (p.Arg2705Cys)
|
rs767190386
|
0.00001
|
NM_015512.5(DNAH1):c.8522G>A (p.Arg2841His)
|
rs12638197
|
0.00001
|
NM_015512.5(DNAH1):c.8710G>A (p.Ala2904Thr)
|
rs376878756
|
0.00001
|
NM_015512.5(DNAH1):c.8815C>T (p.Arg2939Cys)
|
rs1453330887
|
0.00001
|
NM_015512.5(DNAH1):c.9017A>T (p.Asp3006Val)
|
rs1281186930
|
0.00001
|
NM_015512.5(DNAH1):c.9122G>A (p.Arg3041His)
|
rs546452557
|
0.00001
|
NM_015512.5(DNAH1):c.9157G>T (p.Val3053Leu)
|
rs781056727
|
0.00001
|
NM_015512.5(DNAH1):c.9320T>C (p.Leu3107Pro)
|
rs1366406019
|
0.00001
|
NM_015512.5(DNAH1):c.9353G>A (p.Arg3118Gln)
|
rs376339316
|
0.00001
|
NM_015512.5(DNAH1):c.9371A>G (p.Asn3124Ser)
|
rs202033408
|
0.00001
|
NM_015512.5(DNAH1):c.9380C>T (p.Ser3127Leu)
|
rs762921161
|
0.00001
|
NM_015512.5(DNAH1):c.9403G>A (p.Glu3135Lys)
|
rs780455787
|
0.00001
|
NM_015512.5(DNAH1):c.9575C>T (p.Thr3192Met)
|
rs538855437
|
0.00001
|
NM_015512.5(DNAH1):c.9782G>A (p.Arg3261His)
|
rs769112796
|
0.00001
|
NM_015512.5(DNAH1):c.9854A>G (p.Glu3285Gly)
|
rs556006237
|
0.00001
|
NM_015512.5(DNAH1):c.9871G>A (p.Glu3291Lys)
|
rs773925409
|
0.00001
|
NM_015631.6(TCTN3):c.1088G>A (p.Arg363His)
|
rs1267547707
|
0.00001
|
NM_015631.6(TCTN3):c.1111A>G (p.Thr371Ala)
|
rs768480385
|
0.00001
|
NM_015631.6(TCTN3):c.1138A>G (p.Ser380Gly)
|
rs745968146
|
0.00001
|
NM_015631.6(TCTN3):c.1176G>T (p.Leu392Phe)
|
rs931265396
|
0.00001
|
NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn)
|
rs768285987
|
0.00001
|
NM_015631.6(TCTN3):c.119G>A (p.Arg40Gln)
|
rs1314333060
|
0.00001
|
NM_015631.6(TCTN3):c.121G>A (p.Gly41Arg)
|
rs1194762228
|
0.00001
|
NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly)
|
rs200705429
|
0.00001
|
NM_015631.6(TCTN3):c.1279A>G (p.Ile427Val)
|
rs142986132
|
0.00001
|
NM_015631.6(TCTN3):c.1285G>A (p.Gly429Arg)
|
rs773447066
|
0.00001
|
NM_015631.6(TCTN3):c.1346C>G (p.Thr449Ser)
|
rs775556315
|
0.00001
|
NM_015631.6(TCTN3):c.1453G>T (p.Ala485Ser)
|
rs2097942068
|
0.00001
|
NM_015631.6(TCTN3):c.1463G>C (p.Cys488Ser)
|
rs1273735180
|
0.00001
|
NM_015631.6(TCTN3):c.1466C>T (p.Thr489Ile)
|
rs767733835
|
0.00001
|
NM_015631.6(TCTN3):c.1538C>T (p.Pro513Leu)
|
rs756561177
|
0.00001
|
NM_015631.6(TCTN3):c.1572C>G (p.Tyr524Ter)
|
rs771745084
|
0.00001
|
NM_015631.6(TCTN3):c.1592A>T (p.Asp531Val)
|
rs747933488
|
0.00001
|
NM_015631.6(TCTN3):c.1606_1611del (p.Thr536_Glu537del)
|
rs891059654
|
0.00001
|
NM_015631.6(TCTN3):c.1607C>T (p.Thr536Ile)
|
rs768523448
|
0.00001
|
NM_015631.6(TCTN3):c.1771A>T (p.Ile591Phe)
|
rs746968875
|
0.00001
|
NM_015631.6(TCTN3):c.181C>A (p.Pro61Thr)
|
rs999127884
|
0.00001
|
NM_015631.6(TCTN3):c.223G>A (p.Ala75Thr)
|
rs1391185443
|
0.00001
|
NM_015631.6(TCTN3):c.381-3C>T
|
rs546476903
|
0.00001
|
NM_015631.6(TCTN3):c.606A>G (p.Gln202=)
|
rs777642622
|
0.00001
|
NM_015631.6(TCTN3):c.627G>A (p.Arg209=)
|
rs752918067
|
0.00001
|
NM_015631.6(TCTN3):c.766A>G (p.Thr256Ala)
|
rs780438906
|
0.00001
|
NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser)
|
rs762720849
|
0.00001
|
NM_015631.6(TCTN3):c.879G>C (p.Gln293His)
|
rs147928670
|
0.00001
|
NM_015631.6(TCTN3):c.883A>G (p.Met295Val)
|
rs746046233
|
0.00001
|
NM_015631.6(TCTN3):c.894G>C (p.Gln298His)
|
rs1464905299
|
0.00001
|
NM_015631.6(TCTN3):c.924T>G (p.Asn308Lys)
|
rs971089853
|
0.00001
|
NM_015662.3(IFT172):c.1058A>G (p.Tyr353Cys)
|
rs749207320
|
0.00001
|
NM_015662.3(IFT172):c.1099C>T (p.Arg367Cys)
|
rs755816980
|
0.00001
|
NM_015662.3(IFT172):c.1108G>A (p.Val370Met)
|
rs1186256423
|
0.00001
|
NM_015662.3(IFT172):c.1160T>G (p.Leu387Arg)
|
rs745554539
|
0.00001
|
NM_015662.3(IFT172):c.1172C>T (p.Ala391Val)
|
rs781225823
|
0.00001
|
NM_015662.3(IFT172):c.1215T>G (p.Asn405Lys)
|
rs143661402
|
0.00001
|
NM_015662.3(IFT172):c.1221T>G (p.Asn407Lys)
|
rs1470090185
|
0.00001
|
NM_015662.3(IFT172):c.1306A>G (p.Met436Val)
|
rs753911273
|
0.00001
|
NM_015662.3(IFT172):c.1352G>A (p.Arg451Gln)
|
rs753504432
|
0.00001
|
NM_015662.3(IFT172):c.1355G>A (p.Gly452Glu)
|
rs763724145
|
0.00001
|
NM_015662.3(IFT172):c.1417C>G (p.Leu473Val)
|
rs772607856
|
0.00001
|
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile)
|
rs771104054
|
0.00001
|
NM_015662.3(IFT172):c.1522C>T (p.Arg508Cys)
|
rs371011000
|
0.00001
|
NM_015662.3(IFT172):c.1537G>A (p.Asp513Asn)
|
rs959481954
|
0.00001
|
NM_015662.3(IFT172):c.1579T>C (p.Ser527Pro)
|
rs771614435
|
0.00001
|
NM_015662.3(IFT172):c.159C>A (p.Phe53Leu)
|
rs768058682
|
0.00001
|
NM_015662.3(IFT172):c.1609G>A (p.Val537Met)
|
rs868020223
|
0.00001
|
NM_015662.3(IFT172):c.1628G>A (p.Arg543Gln)
|
rs755926439
|
0.00001
|
NM_015662.3(IFT172):c.167A>C (p.Lys56Thr)
|
rs780205001
|
0.00001
|
NM_015662.3(IFT172):c.1694G>A (p.Gly565Asp)
|
rs758357901
|
0.00001
|
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln)
|
rs764302265
|
0.00001
|
NM_015662.3(IFT172):c.178A>G (p.Met60Val)
|
rs758377122
|
0.00001
|
NM_015662.3(IFT172):c.1880T>C (p.Met627Thr)
|
rs147288623
|
0.00001
|
NM_015662.3(IFT172):c.1937+10A>G
|
rs544892086
|
0.00001
|
NM_015662.3(IFT172):c.2035A>G (p.Thr679Ala)
|
rs746240262
|
0.00001
|
NM_015662.3(IFT172):c.2050G>A (p.Val684Ile)
|
rs1400020833
|
0.00001
|
NM_015662.3(IFT172):c.2059C>T (p.Arg687Cys)
|
rs145946722
|
0.00001
|
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr)
|
rs144645349
|
0.00001
|
NM_015662.3(IFT172):c.2194-3C>T
|
rs906297666
|
0.00001
|
NM_015662.3(IFT172):c.2218C>T (p.Arg740Cys)
|
rs187728607
|
0.00001
|
NM_015662.3(IFT172):c.2221C>T (p.Arg741Cys)
|
rs984586780
|
0.00001
|
NM_015662.3(IFT172):c.2293G>A (p.Asp765Asn)
|
rs367874978
|
0.00001
|
NM_015662.3(IFT172):c.2308A>G (p.Ile770Val)
|
rs145926013
|
0.00001
|
NM_015662.3(IFT172):c.239A>C (p.Lys80Thr)
|
rs766853711
|
0.00001
|
NM_015662.3(IFT172):c.2413G>T (p.Ala805Ser)
|
rs1387032631
|
0.00001
|
NM_015662.3(IFT172):c.2452C>T (p.Leu818Phe)
|
rs374015331
|
0.00001
|
NM_015662.3(IFT172):c.2498G>A (p.Arg833His)
|
rs756767071
|
0.00001
|
NM_015662.3(IFT172):c.2509G>A (p.Ala837Thr)
|
rs752494593
|
0.00001
|
NM_015662.3(IFT172):c.2537G>A (p.Arg846Gln)
|
rs199784373
|
0.00001
|
NM_015662.3(IFT172):c.2548C>G (p.Pro850Ala)
|
rs1401639649
|
0.00001
|
NM_015662.3(IFT172):c.263A>G (p.Asn88Ser)
|
rs1443634104
|
0.00001
|
NM_015662.3(IFT172):c.2653A>G (p.Lys885Glu)
|
rs975731134
|
0.00001
|
NM_015662.3(IFT172):c.2680C>T (p.Arg894Cys)
|
rs370531520
|
0.00001
|
NM_015662.3(IFT172):c.2691G>T (p.Lys897Asn)
|
rs1320948238
|
0.00001
|
NM_015662.3(IFT172):c.2695G>A (p.Ala899Thr)
|
rs776148073
|
0.00001
|
NM_015662.3(IFT172):c.2846C>A (p.Thr949Asn)
|
rs1275938087
|
0.00001
|
NM_015662.3(IFT172):c.2875A>G (p.Lys959Glu)
|
rs1271431771
|
0.00001
|
NM_015662.3(IFT172):c.2897G>C (p.Arg966Thr)
|
rs1009534874
|
0.00001
|
NM_015662.3(IFT172):c.2981A>G (p.Tyr994Cys)
|
rs994624984
|
0.00001
|
NM_015662.3(IFT172):c.2998C>G (p.Pro1000Ala)
|
rs569281478
|
0.00001
|
NM_015662.3(IFT172):c.3052C>T (p.Arg1018Cys)
|
rs1358114348
|
0.00001
|
NM_015662.3(IFT172):c.3094C>T (p.His1032Tyr)
|
rs752920969
|
0.00001
|
NM_015662.3(IFT172):c.3131G>A (p.Arg1044Gln)
|
rs755990223
|
0.00001
|
NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr)
|
rs560379580
|
0.00001
|
NM_015662.3(IFT172):c.3196C>T (p.Arg1066Trp)
|
rs148997142
|
0.00001
|
NM_015662.3(IFT172):c.3226A>G (p.Arg1076Gly)
|
rs770486522
|
0.00001
|
NM_015662.3(IFT172):c.3244G>A (p.Gly1082Arg)
|
rs1008321384
|
0.00001
|
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser)
|
rs146615936
|
0.00001
|
NM_015662.3(IFT172):c.3370T>C (p.Cys1124Arg)
|
rs931407294
|
0.00001
|
NM_015662.3(IFT172):c.338G>A (p.Ser113Asn)
|
rs778306652
|
0.00001
|
NM_015662.3(IFT172):c.347C>T (p.Thr116Ile)
|
rs751230602
|
0.00001
|
NM_015662.3(IFT172):c.3568G>A (p.Val1190Met)
|
rs1456528874
|
0.00001
|
NM_015662.3(IFT172):c.3575A>G (p.Glu1192Gly)
|
rs1356192791
|
0.00001
|
NM_015662.3(IFT172):c.3583G>A (p.Asp1195Asn)
|
rs762074176
|
0.00001
|
NM_015662.3(IFT172):c.3622C>T (p.Arg1208Trp)
|
rs779395435
|
0.00001
|
NM_015662.3(IFT172):c.3746G>A (p.Cys1249Tyr)
|
rs139455520
|
0.00001
|
NM_015662.3(IFT172):c.3752A>T (p.Asp1251Val)
|
rs1665910456
|
0.00001
|
NM_015662.3(IFT172):c.3767A>G (p.Gln1256Arg)
|
rs765703265
|
0.00001
|
NM_015662.3(IFT172):c.3778C>G (p.Leu1260Val)
|
rs1012597627
|
0.00001
|
NM_015662.3(IFT172):c.3796C>T (p.Arg1266Trp)
|
rs902724768
|
0.00001
|
NM_015662.3(IFT172):c.3836T>C (p.Phe1279Ser)
|
rs1303152998
|
0.00001
|
NM_015662.3(IFT172):c.3859G>A (p.Glu1287Lys)
|
rs1336146422
|
0.00001
|
NM_015662.3(IFT172):c.3877A>G (p.Ser1293Gly)
|
rs780413940
|
0.00001
|
NM_015662.3(IFT172):c.3881G>A (p.Arg1294His)
|
rs947637366
|
0.00001
|
NM_015662.3(IFT172):c.3886G>A (p.Val1296Met)
|
rs757728167
|
0.00001
|
NM_015662.3(IFT172):c.3908G>A (p.Arg1303Gln)
|
rs768194578
|
0.00001
|
NM_015662.3(IFT172):c.3932C>T (p.Ala1311Val)
|
rs760562906
|
0.00001
|
NM_015662.3(IFT172):c.4003G>A (p.Val1335Ile)
|
rs755670491
|
0.00001
|
NM_015662.3(IFT172):c.4034T>C (p.Ile1345Thr)
|
rs766061673
|
0.00001
|
NM_015662.3(IFT172):c.403G>A (p.Val135Ile)
|
rs201476743
|
0.00001
|
NM_015662.3(IFT172):c.407G>A (p.Arg136His)
|
rs763923637
|
0.00001
|
NM_015662.3(IFT172):c.4180C>G (p.Gln1394Glu)
|
rs963343817
|
0.00001
|
NM_015662.3(IFT172):c.4199T>C (p.Leu1400Pro)
|
rs371612970
|
0.00001
|
NM_015662.3(IFT172):c.421A>G (p.Lys141Glu)
|
rs760582917
|
0.00001
|
NM_015662.3(IFT172):c.4239T>G (p.Asp1413Glu)
|
rs748345321
|
0.00001
|
NM_015662.3(IFT172):c.4244T>G (p.Ile1415Arg)
|
rs1665446592
|
0.00001
|
NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala)
|
rs761701917
|
0.00001
|
NM_015662.3(IFT172):c.4366G>A (p.Glu1456Lys)
|
rs775476765
|
0.00001
|
NM_015662.3(IFT172):c.4417G>A (p.Ala1473Thr)
|
rs749834823
|
0.00001
|
NM_015662.3(IFT172):c.4539+6G>A
|
rs745480523
|
0.00001
|
NM_015662.3(IFT172):c.4542T>G (p.Cys1514Trp)
|
rs758565766
|
0.00001
|
NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys)
|
rs764604255
|
0.00001
|
NM_015662.3(IFT172):c.4637C>T (p.Ala1546Val)
|
rs1290255701
|
0.00001
|
NM_015662.3(IFT172):c.4644G>C (p.Gln1548His)
|
rs746827700
|
0.00001
|
NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser)
|
rs777980611
|
0.00001
|
NM_015662.3(IFT172):c.4759G>A (p.Val1587Ile)
|
rs774941853
|
0.00001
|
NM_015662.3(IFT172):c.4775T>C (p.Met1592Thr)
|
rs773569919
|
0.00001
|
NM_015662.3(IFT172):c.4847A>G (p.Asp1616Gly)
|
rs754517347
|
0.00001
|
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)
|
rs201840472
|
0.00001
|
NM_015662.3(IFT172):c.4921G>A (p.Glu1641Lys)
|
rs370504937
|
0.00001
|
NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln)
|
rs549415233
|
0.00001
|
NM_015662.3(IFT172):c.4975G>C (p.Glu1659Gln)
|
rs1488810130
|
0.00001
|
NM_015662.3(IFT172):c.4981G>A (p.Val1661Ile)
|
rs779670290
|
0.00001
|
NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln)
|
rs749884570
|
0.00001
|
NM_015662.3(IFT172):c.4997A>G (p.Glu1666Gly)
|
rs1664968356
|
0.00001
|
NM_015662.3(IFT172):c.4999C>T (p.Arg1667Cys)
|
rs757212554
|
0.00001
|
NM_015662.3(IFT172):c.5053C>T (p.Pro1685Ser)
|
rs775285304
|
0.00001
|
NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe)
|
rs917873749
|
0.00001
|
NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu)
|
rs146309780
|
0.00001
|
NM_015662.3(IFT172):c.5160+5G>A
|
rs1664926036
|
0.00001
|
NM_015662.3(IFT172):c.5170A>C (p.Ser1724Arg)
|
rs148800421
|
0.00001
|
NM_015662.3(IFT172):c.5182C>A (p.Gln1728Lys)
|
rs753075654
|
0.00001
|
NM_015662.3(IFT172):c.5188G>A (p.Val1730Met)
|
rs985755052
|
0.00001
|
NM_015662.3(IFT172):c.599C>G (p.Pro200Arg)
|
rs776260844
|
0.00001
|
NM_015662.3(IFT172):c.59C>T (p.Thr20Ile)
|
rs751486617
|
0.00001
|
NM_015662.3(IFT172):c.5A>C (p.His2Pro)
|
rs781257867
|
0.00001
|
NM_015662.3(IFT172):c.610G>T (p.Ala204Ser)
|
rs1437164423
|
0.00001
|
NM_015662.3(IFT172):c.649C>T (p.Arg217Trp)
|
rs773661262
|
0.00001
|
NM_015662.3(IFT172):c.739G>C (p.Val247Leu)
|
rs144379702
|
0.00001
|
NM_015662.3(IFT172):c.785G>T (p.Arg262Met)
|
rs1235295289
|
0.00001
|
NM_015662.3(IFT172):c.790C>T (p.Arg264Trp)
|
rs750783565
|
0.00001
|
NM_015662.3(IFT172):c.812G>A (p.Arg271Gln)
|
rs375847990
|
0.00001
|
NM_015662.3(IFT172):c.860A>G (p.Tyr287Cys)
|
rs766223232
|
0.00001
|
NM_015662.3(IFT172):c.8T>G (p.Leu3Trp)
|
rs1246454433
|
0.00001
|
NM_015662.3(IFT172):c.909G>A (p.Val303=)
|
rs139685481
|
0.00001
|
NM_015662.3(IFT172):c.952C>G (p.Arg318Gly)
|
rs751177541
|
0.00001
|
NM_015681.6(B9D1):c.143A>G (p.Glu48Gly)
|
rs773267624
|
0.00001
|
NM_015681.6(B9D1):c.241G>A (p.Gly81Ser)
|
rs766798349
|
0.00001
|
NM_015681.6(B9D1):c.253A>T (p.Ile85Phe)
|
rs769608300
|
0.00001
|
NM_015681.6(B9D1):c.281T>C (p.Val94Ala)
|
rs1315959511
|
0.00001
|
NM_015681.6(B9D1):c.28C>G (p.Leu10Val)
|
rs1046425051
|
0.00001
|
NM_015681.6(B9D1):c.316G>A (p.Val106Met)
|
rs770853834
|
0.00001
|
NM_015681.6(B9D1):c.362T>C (p.Met121Thr)
|
rs1177935761
|
0.00001
|
NM_015681.6(B9D1):c.404+5G>C
|
rs767244331
|
0.00001
|
NM_015681.6(B9D1):c.434C>T (p.Thr145Ile)
|
rs765607415
|
0.00001
|
NM_015681.6(B9D1):c.467G>A (p.Arg156Gln)
|
rs886038205
|
0.00001
|
NM_015681.6(B9D1):c.534G>A (p.Met178Ile)
|
rs939940954
|
0.00001
|
NM_015681.6(B9D1):c.551A>T (p.Asp184Val)
|
rs1441010335
|
0.00001
|
NM_015681.6(B9D1):c.577G>A (p.Val193Met)
|
rs530321513
|
0.00001
|
NM_015896.4(ZMYND10):c.1118G>A (p.Arg373Gln)
|
rs373018717
|
0.00001
|
NM_015896.4(ZMYND10):c.1168G>A (p.Glu390Lys)
|
rs753509882
|
0.00001
|
NM_015896.4(ZMYND10):c.1211G>A (p.Arg404His)
|
rs781516139
|
0.00001
|
NM_015896.4(ZMYND10):c.318G>A (p.Val106=)
|
rs1559851686
|
0.00001
|
NM_015896.4(ZMYND10):c.44T>G (p.Leu15Arg)
|
rs1703519203
|
0.00001
|
NM_015896.4(ZMYND10):c.550G>A (p.Ala184Thr)
|
rs771849995
|
0.00001
|
NM_015896.4(ZMYND10):c.551C>T (p.Ala184Val)
|
rs1182616344
|
0.00001
|
NM_015896.4(ZMYND10):c.575G>A (p.Arg192His)
|
rs749419715
|
0.00001
|
NM_015896.4(ZMYND10):c.674A>G (p.His225Arg)
|
rs1207885001
|
0.00001
|
NM_015896.4(ZMYND10):c.817C>T (p.Pro273Ser)
|
rs768120521
|
0.00001
|
NM_015896.4(ZMYND10):c.830C>T (p.Ala277Val)
|
rs1320999179
|
0.00001
|
NM_015896.4(ZMYND10):c.848G>A (p.Ser283Asn)
|
rs587682566
|
0.00001
|
NM_015896.4(ZMYND10):c.944C>A (p.Ala315Asp)
|
rs774945751
|
0.00001
|
NM_015896.4(ZMYND10):c.999+4G>A
|
rs1182770589
|
0.00001
|
NM_015910.7(WDPCP):c.1018G>T (p.Ala340Ser)
|
rs779714128
|
0.00001
|
NM_015910.7(WDPCP):c.1049A>G (p.Asp350Gly)
|
rs1469275937
|
0.00001
|
NM_015910.7(WDPCP):c.1101C>A (p.His367Gln)
|
rs904401906
|
0.00001
|
NM_015910.7(WDPCP):c.1186A>C (p.Ser396Arg)
|
rs936904170
|
0.00001
|
NM_015910.7(WDPCP):c.1201T>G (p.Leu401Val)
|
rs1040913823
|
0.00001
|
NM_015910.7(WDPCP):c.1206A>T (p.Gln402His)
|
rs1441739882
|
0.00001
|
NM_015910.7(WDPCP):c.1258C>T (p.Arg420Cys)
|
rs769165669
|
0.00001
|
NM_015910.7(WDPCP):c.1259G>A (p.Arg420His)
|
rs749726622
|
0.00001
|
NM_015910.7(WDPCP):c.1267A>G (p.Arg423Gly)
|
rs745555236
|
0.00001
|
NM_015910.7(WDPCP):c.1291T>G (p.Leu431Val)
|
rs746549040
|
0.00001
|
NM_015910.7(WDPCP):c.1331T>G (p.Ile444Arg)
|
rs373940251
|
0.00001
|
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln)
|
rs544657165
|
0.00001
|
NM_015910.7(WDPCP):c.1451G>A (p.Gly484Glu)
|
rs750245323
|
0.00001
|
NM_015910.7(WDPCP):c.1466T>C (p.Ile489Thr)
|
rs370842356
|
0.00001
|
NM_015910.7(WDPCP):c.1505A>G (p.Tyr502Cys)
|
rs559295906
|
0.00001
|
NM_015910.7(WDPCP):c.1511C>T (p.Ala504Val)
|
rs1462636982
|
0.00001
|
NM_015910.7(WDPCP):c.1546C>G (p.Leu516Val)
|
rs766821661
|
0.00001
|
NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr)
|
rs534102944
|
0.00001
|
NM_015910.7(WDPCP):c.1606C>G (p.Leu536Val)
|
rs955196377
|
0.00001
|
NM_015910.7(WDPCP):c.166G>C (p.Asp56His)
|
rs375016562
|
0.00001
|
NM_015910.7(WDPCP):c.1670C>T (p.Pro557Leu)
|
rs760413825
|
0.00001
|
NM_015910.7(WDPCP):c.1687A>G (p.Ile563Val)
|
rs1168632851
|
0.00001
|
NM_015910.7(WDPCP):c.1705C>G (p.Gln569Glu)
|
rs1026359002
|
0.00001
|
NM_015910.7(WDPCP):c.170T>C (p.Ile57Thr)
|
rs757037739
|
0.00001
|
NM_015910.7(WDPCP):c.1730T>G (p.Phe577Cys)
|
rs1439554090
|
0.00001
|
NM_015910.7(WDPCP):c.1798C>T (p.Arg600Cys)
|
rs747517141
|
0.00001
|
NM_015910.7(WDPCP):c.193A>G (p.Lys65Glu)
|
rs750924240
|
0.00001
|
NM_015910.7(WDPCP):c.1951A>C (p.Asn651His)
|
rs373413042
|
0.00001
|
NM_015910.7(WDPCP):c.1982C>T (p.Pro661Leu)
|
rs572858289
|
0.00001
|
NM_015910.7(WDPCP):c.2010C>A (p.Asn670Lys)
|
rs1242470451
|
0.00001
|
NM_015910.7(WDPCP):c.2047C>A (p.Gln683Lys)
|
rs765674630
|
0.00001
|
NM_015910.7(WDPCP):c.2147G>A (p.Cys716Tyr)
|
rs772286167
|
0.00001
|
NM_015910.7(WDPCP):c.2149A>C (p.Asn717His)
|
rs748189167
|
0.00001
|
NM_015910.7(WDPCP):c.2159-14A>G
|
rs748390681
|
0.00001
|
NM_015910.7(WDPCP):c.2173G>A (p.Glu725Lys)
|
rs1370629959
|
0.00001
|
NM_015910.7(WDPCP):c.2190+1G>A
|
rs1671980611
|
0.00001
|
NM_015910.7(WDPCP):c.21G>C (p.Trp7Cys)
|
rs1200911623
|
0.00001
|
NM_015910.7(WDPCP):c.243G>T (p.Lys81Asn)
|
rs1206045016
|
0.00001
|
NM_015910.7(WDPCP):c.24C>G (p.Asp8Glu)
|
rs548483405
|
0.00001
|
NM_015910.7(WDPCP):c.253T>G (p.Ser85Ala)
|
rs866240226
|
0.00001
|
NM_015910.7(WDPCP):c.270G>T (p.Trp90Cys)
|
rs758930140
|
0.00001
|
NM_015910.7(WDPCP):c.302G>A (p.Arg101Gln)
|
rs746158542
|
0.00001
|
NM_015910.7(WDPCP):c.304G>C (p.Asp102His)
|
rs757449444
|
0.00001
|
NM_015910.7(WDPCP):c.308C>T (p.Ser103Leu)
|
rs376758858
|
0.00001
|
NM_015910.7(WDPCP):c.316G>C (p.Glu106Gln)
|
rs1444169850
|
0.00001
|
NM_015910.7(WDPCP):c.332T>C (p.Met111Thr)
|
rs1392647874
|
0.00001
|
NM_015910.7(WDPCP):c.385-8G>A
|
rs1277892197
|
0.00001
|
NM_015910.7(WDPCP):c.413C>T (p.Ser138Phe)
|
rs756891717
|
0.00001
|
NM_015910.7(WDPCP):c.424T>C (p.Ser142Pro)
|
rs529607482
|
0.00001
|
NM_015910.7(WDPCP):c.451A>C (p.Ile151Leu)
|
rs776529473
|
0.00001
|
NM_015910.7(WDPCP):c.46A>C (p.Ser16Arg)
|
rs952535961
|
0.00001
|
NM_015910.7(WDPCP):c.56C>T (p.Ser19Phe)
|
rs781606829
|
0.00001
|
NM_015910.7(WDPCP):c.581A>G (p.Glu194Gly)
|
rs750252971
|
0.00001
|
NM_015910.7(WDPCP):c.634A>C (p.Ile212Leu)
|
rs755148252
|
0.00001
|
NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser)
|
rs761312526
|
0.00001
|
NM_015910.7(WDPCP):c.677A>T (p.Glu226Val)
|
rs774816454
|
0.00001
|
NM_015910.7(WDPCP):c.757G>A (p.Ala253Thr)
|
rs531251663
|
0.00001
|
NM_015910.7(WDPCP):c.805T>C (p.Tyr269His)
|
rs1374748295
|
0.00001
|
NM_015910.7(WDPCP):c.856C>T (p.Pro286Ser)
|
rs367653779
|
0.00001
|
NM_015910.7(WDPCP):c.940G>A (p.Ala314Thr)
|
rs1694413400
|
0.00001
|
NM_015910.7(WDPCP):c.952A>G (p.Ile318Val)
|
rs747114578
|
0.00001
|
NM_015910.7(WDPCP):c.967C>T (p.Arg323Trp)
|
rs545767612
|
0.00001
|
NM_015910.7(WDPCP):c.968G>A (p.Arg323Gln)
|
rs991936622
|
0.00001
|
NM_016464.5(TMEM138):c.203C>A (p.Ala68Asp)
|
rs766349558
|
0.00001
|
NM_016464.5(TMEM138):c.248T>C (p.Ile83Thr)
|
rs767361822
|
0.00001
|
NM_016464.5(TMEM138):c.308G>A (p.Arg103His)
|
rs781769843
|
0.00001
|
NM_016464.5(TMEM138):c.392G>C (p.Cys131Ser)
|
rs934639615
|
0.00001
|
NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser)
|
rs775913576
|
0.00001
|
NM_016616.5(NME8):c.1092A>T (p.Glu364Asp)
|
rs1376113644
|
0.00001
|
NM_016616.5(NME8):c.1231G>A (p.Glu411Lys)
|
rs778757785
|
0.00001
|
NM_016616.5(NME8):c.1588G>C (p.Ala530Pro)
|
rs536891365
|
0.00001
|
NM_016616.5(NME8):c.270+5G>A
|
rs1263698487
|
0.00001
|
NM_016616.5(NME8):c.365C>G (p.Ala122Gly)
|
rs968749440
|
0.00001
|
NM_016616.5(NME8):c.53G>A (p.Ser18Asn)
|
rs934943362
|
0.00001
|
NM_016616.5(NME8):c.608G>A (p.Arg203Gln)
|
rs534679328
|
0.00001
|
NM_016616.5(NME8):c.668A>G (p.Tyr223Cys)
|
rs200582084
|
0.00001
|
NM_016616.5(NME8):c.706C>T (p.Pro236Ser)
|
rs747458162
|
0.00001
|
NM_016616.5(NME8):c.772G>T (p.Val258Phe)
|
rs553733754
|
0.00001
|
NM_016616.5(NME8):c.819-3C>G
|
rs1313065577
|
0.00001
|
NM_016616.5(NME8):c.82G>T (p.Gly28Cys)
|
rs780172047
|
0.00001
|
NM_016616.5(NME8):c.921T>A (p.Phe307Leu)
|
rs746954043
|
0.00001
|
NM_016616.5(NME8):c.994+6G>C
|
rs1060502528
|
0.00001
|
NM_016616.5(NME8):c.995A>G (p.Asp332Gly)
|
rs764183917
|
0.00001
|
NM_017777.4(MKS1):c.101C>T (p.Thr34Ile)
|
rs759465861
|
0.00001
|
NM_017777.4(MKS1):c.1055C>T (p.Ser352Leu)
|
rs1293609717
|
0.00001
|
NM_017777.4(MKS1):c.1090G>C (p.Ala364Pro)
|
rs769389013
|
0.00001
|
NM_017777.4(MKS1):c.1127C>T (p.Thr376Met)
|
rs200350173
|
0.00001
|
NM_017777.4(MKS1):c.1205T>C (p.Leu402Pro)
|
rs1295464168
|
0.00001
|
NM_017777.4(MKS1):c.1219T>C (p.Trp407Arg)
|
rs1468389010
|
0.00001
|
NM_017777.4(MKS1):c.1279C>T (p.His427Tyr)
|
rs141741656
|
0.00001
|
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly)
|
rs754930606
|
0.00001
|
NM_017777.4(MKS1):c.1424G>A (p.Arg475His)
|
rs200026560
|
0.00001
|
NM_017777.4(MKS1):c.1466G>A (p.Arg489His)
|
rs916562674
|
0.00001
|
NM_017777.4(MKS1):c.1497del (p.Phe499fs)
|
rs780161503
|
0.00001
|
NM_017777.4(MKS1):c.1525A>G (p.Met509Val)
|
rs778890248
|
0.00001
|
NM_017777.4(MKS1):c.1529G>A (p.Arg510Gln)
|
rs373843986
|
0.00001
|
NM_017777.4(MKS1):c.1589-3C>T
|
rs752901746
|
0.00001
|
NM_017777.4(MKS1):c.1590G>T (p.Glu530Asp)
|
rs767250536
|
0.00001
|
NM_017777.4(MKS1):c.1627C>T (p.Arg543Trp)
|
rs748406509
|
0.00001
|
NM_017777.4(MKS1):c.1657C>T (p.Pro553Ser)
|
rs915370426
|
0.00001
|
NM_017777.4(MKS1):c.200G>A (p.Arg67His)
|
rs780293222
|
0.00001
|
NM_017777.4(MKS1):c.227T>C (p.Ile76Thr)
|
rs1412560835
|
0.00001
|
NM_017777.4(MKS1):c.268G>A (p.Val90Ile)
|
rs1235520151
|
0.00001
|
NM_017777.4(MKS1):c.308T>C (p.Leu103Ser)
|
rs201574278
|
0.00001
|
NM_017777.4(MKS1):c.313T>C (p.Tyr105His)
|
rs778921113
|
0.00001
|
NM_017777.4(MKS1):c.331A>C (p.Ile111Leu)
|
rs886044605
|
0.00001
|
NM_017777.4(MKS1):c.371G>A (p.Arg124Gln)
|
rs765026950
|
0.00001
|
NM_017777.4(MKS1):c.399A>G (p.Arg133=)
|
rs746378310
|
0.00001
|
NM_017777.4(MKS1):c.440C>T (p.Ala147Val)
|
rs1376838481
|
0.00001
|
NM_017777.4(MKS1):c.447C>T (p.Ser149=)
|
rs750376903
|
0.00001
|
NM_017777.4(MKS1):c.452T>C (p.Val151Ala)
|
rs778584579
|
0.00001
|
NM_017777.4(MKS1):c.46C>T (p.Arg16Cys)
|
rs1011348762
|
0.00001
|
NM_017777.4(MKS1):c.470A>G (p.Glu157Gly)
|
rs766648988
|
0.00001
|
NM_017777.4(MKS1):c.497G>A (p.Arg166Gln)
|
rs1050543850
|
0.00001
|
NM_017777.4(MKS1):c.509G>A (p.Arg170Gln)
|
rs369388608
|
0.00001
|
NM_017777.4(MKS1):c.523G>A (p.Gly175Ser)
|
rs754601373
|
0.00001
|
NM_017777.4(MKS1):c.524G>T (p.Gly175Val)
|
rs527350238
|
0.00001
|
NM_017777.4(MKS1):c.548C>G (p.Thr183Ser)
|
rs775805558
|
0.00001
|
NM_017777.4(MKS1):c.580A>G (p.Asn194Asp)
|
rs759802849
|
0.00001
|
NM_017777.4(MKS1):c.586G>A (p.Val196Ile)
|
rs140677541
|
0.00001
|
NM_017777.4(MKS1):c.634C>A (p.Pro212Thr)
|
rs747659750
|
0.00001
|
NM_017777.4(MKS1):c.638A>G (p.Tyr213Cys)
|
rs754689401
|
0.00001
|
NM_017777.4(MKS1):c.64C>A (p.Arg22Ser)
|
rs1031187314
|
0.00001
|
NM_017777.4(MKS1):c.713T>G (p.Val238Gly)
|
rs376785849
|
0.00001
|
NM_017777.4(MKS1):c.728C>T (p.Thr243Met)
|
rs749668169
|
0.00001
|
NM_017777.4(MKS1):c.791C>T (p.Thr264Met)
|
rs561482424
|
0.00001
|
NM_017777.4(MKS1):c.836G>A (p.Arg279Gln)
|
rs747504986
|
0.00001
|
NM_017777.4(MKS1):c.840A>C (p.Glu280Asp)
|
rs1406421081
|
0.00001
|
NM_017777.4(MKS1):c.854A>G (p.Lys285Arg)
|
rs1350256761
|
0.00001
|
NM_017777.4(MKS1):c.873C>G (p.His291Gln)
|
rs1968929550
|
0.00001
|
NM_017777.4(MKS1):c.896T>C (p.Val299Ala)
|
rs765793774
|
0.00001
|
NM_017777.4(MKS1):c.957C>T (p.Val319=)
|
rs770067106
|
0.00001
|
NM_017802.4(DNAAF5):c.1276C>G (p.Leu426Val)
|
rs747227150
|
0.00001
|
NM_017802.4(DNAAF5):c.1328C>T (p.Thr443Met)
|
rs777008597
|
0.00001
|
NM_017802.4(DNAAF5):c.1342C>T (p.Pro448Ser)
|
rs751643186
|
0.00001
|
NM_017802.4(DNAAF5):c.1381C>T (p.Arg461Trp)
|
rs373336873
|
0.00001
|
NM_017802.4(DNAAF5):c.1435C>G (p.Leu479Val)
|
rs769427761
|
0.00001
|
NM_017802.4(DNAAF5):c.1471-3C>T
|
rs543219185
|
0.00001
|
NM_017802.4(DNAAF5):c.1586T>A (p.Leu529His)
|
rs368098310
|
0.00001
|
NM_017802.4(DNAAF5):c.1610A>G (p.Asp537Gly)
|
rs926185028
|
0.00001
|
NM_017802.4(DNAAF5):c.1728C>G (p.Asp576Glu)
|
rs1437350828
|
0.00001
|
NM_017802.4(DNAAF5):c.1735G>A (p.Ala579Thr)
|
rs769804298
|
0.00001
|
NM_017802.4(DNAAF5):c.1771G>A (p.Val591Ile)
|
rs754002298
|
0.00001
|
NM_017802.4(DNAAF5):c.1802C>G (p.Ala601Gly)
|
rs745537484
|
0.00001
|
NM_017802.4(DNAAF5):c.1865G>A (p.Arg622His)
|
rs779833002
|
0.00001
|
NM_017802.4(DNAAF5):c.1997C>T (p.Ala666Val)
|
rs761189541
|
0.00001
|
NM_017802.4(DNAAF5):c.2048C>T (p.Ala683Val)
|
rs1159798626
|
0.00001
|
NM_017802.4(DNAAF5):c.2177A>C (p.Asn726Thr)
|
rs1332012675
|
0.00001
|
NM_017802.4(DNAAF5):c.2506C>T (p.Arg836Cys)
|
rs755610202
|
0.00001
|
NM_017802.4(DNAAF5):c.2546A>C (p.Gln849Pro)
|
rs768265611
|
0.00001
|
NM_017802.4(DNAAF5):c.420G>C (p.Glu140Asp)
|
rs1439027627
|
0.00001
|
NM_017802.4(DNAAF5):c.440A>G (p.Gln147Arg)
|
rs878855038
|
0.00001
|
NM_017802.4(DNAAF5):c.517T>C (p.Cys173Arg)
|
rs902736696
|
0.00001
|
NM_017802.4(DNAAF5):c.607A>G (p.Met203Val)
|
rs1194482161
|
0.00001
|
NM_017802.4(DNAAF5):c.614C>T (p.Ser205Leu)
|
rs373565354
|
0.00001
|
NM_017802.4(DNAAF5):c.650C>A (p.Ser217Tyr)
|
rs1781502389
|
0.00001
|
NM_017802.4(DNAAF5):c.758G>A (p.Arg253Gln)
|
rs545123585
|
0.00001
|
NM_017802.4(DNAAF5):c.79C>G (p.Leu27Val)
|
rs1487987262
|
0.00001
|
NM_017802.4(DNAAF5):c.811G>A (p.Gly271Ser)
|
rs764170608
|
0.00001
|
NM_017802.4(DNAAF5):c.836G>A (p.Arg279His)
|
rs978606639
|
0.00001
|
NM_017802.4(DNAAF5):c.892G>T (p.Val298Leu)
|
rs181807581
|
0.00001
|
NM_017950.4(CCDC40):c.1030C>G (p.Leu344Val)
|
rs374337192
|
0.00001
|
NM_017950.4(CCDC40):c.1075C>T (p.Arg359Cys)
|
rs370338926
|
0.00001
|
NM_017950.4(CCDC40):c.1150C>T (p.Arg384Cys)
|
rs758068198
|
0.00001
|
NM_017950.4(CCDC40):c.1246C>T (p.Arg416Cys)
|
rs1489341724
|
0.00001
|
NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser)
|
rs2289526
|
0.00001
|
NM_017950.4(CCDC40):c.1525C>T (p.Arg509Cys)
|
rs749901313
|
0.00001
|
NM_017950.4(CCDC40):c.1528G>A (p.Asp510Asn)
|
rs1449822865
|
0.00001
|
NM_017950.4(CCDC40):c.1603G>A (p.Glu535Lys)
|
rs201164121
|
0.00001
|
NM_017950.4(CCDC40):c.1645G>A (p.Glu549Lys)
|
rs1414723148
|
0.00001
|
NM_017950.4(CCDC40):c.1670G>A (p.Arg557Gln)
|
rs200236937
|
0.00001
|
NM_017950.4(CCDC40):c.1687A>G (p.Thr563Ala)
|
rs780848862
|
0.00001
|
NM_017950.4(CCDC40):c.1721C>A (p.Thr574Asn)
|
rs202093340
|
0.00001
|
NM_017950.4(CCDC40):c.1726C>G (p.Gln576Glu)
|
rs864622323
|
0.00001
|
NM_017950.4(CCDC40):c.1804C>A (p.Leu602Met)
|
rs1213836538
|
0.00001
|
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln)
|
rs759468416
|
0.00001
|
NM_017950.4(CCDC40):c.2014G>A (p.Gly672Ser)
|
rs769532664
|
0.00001
|
NM_017950.4(CCDC40):c.2051C>T (p.Thr684Ile)
|
rs200542971
|
0.00001
|
NM_017950.4(CCDC40):c.2152C>T (p.Arg718Trp)
|
rs368063104
|
0.00001
|
NM_017950.4(CCDC40):c.2216G>A (p.Arg739Gln)
|
rs774558527
|
0.00001
|
NM_017950.4(CCDC40):c.2456T>C (p.Ile819Thr)
|
rs1316337946
|
0.00001
|
NM_017950.4(CCDC40):c.2585G>A (p.Arg862Gln)
|
rs755608579
|
0.00001
|
NM_017950.4(CCDC40):c.2724G>A (p.Met908Ile)
|
rs1211135006
|
0.00001
|
NM_017950.4(CCDC40):c.2731G>A (p.Glu911Lys)
|
rs993641369
|
0.00001
|
NM_017950.4(CCDC40):c.2734A>G (p.Lys912Glu)
|
rs756183009
|
0.00001
|
NM_017950.4(CCDC40):c.2762G>A (p.Arg921His)
|
rs745319642
|
0.00001
|
NM_017950.4(CCDC40):c.2823C>G (p.His941Gln)
|
rs751091185
|
0.00001
|
NM_017950.4(CCDC40):c.2899C>T (p.Arg967Cys)
|
rs1483239449
|
0.00001
|
NM_017950.4(CCDC40):c.29+5G>A
|
rs934195206
|
0.00001
|
NM_017950.4(CCDC40):c.3142G>A (p.Glu1048Lys)
|
rs997113449
|
0.00001
|
NM_017950.4(CCDC40):c.3148G>A (p.Asp1050Asn)
|
rs111550470
|
0.00001
|
NM_017950.4(CCDC40):c.3184C>G (p.Leu1062Val)
|
rs369522039
|
0.00001
|
NM_017950.4(CCDC40):c.3196G>A (p.Val1066Met)
|
rs374932269
|
0.00001
|
NM_017950.4(CCDC40):c.3244C>T (p.Arg1082Cys)
|
rs1055443134
|
0.00001
|
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His)
|
rs773033304
|
0.00001
|
NM_017950.4(CCDC40):c.3290G>A (p.Arg1097His)
|
rs777500902
|
0.00001
|
NM_017950.4(CCDC40):c.3322G>A (p.Ala1108Thr)
|
rs763389968
|
0.00001
|
NM_017950.4(CCDC40):c.3365A>C (p.Gln1122Pro)
|
rs778612110
|
0.00001
|
NM_017950.4(CCDC40):c.902G>A (p.Arg301Gln)
|
rs191632512
|
0.00001
|
NM_017950.4(CCDC40):c.956A>G (p.Gln319Arg)
|
rs1428646439
|
0.00001
|
NM_018051.5(DYNC2I1):c.104A>G (p.Lys35Arg)
|
rs774295782
|
0.00001
|
NM_018051.5(DYNC2I1):c.1139A>G (p.Asp380Gly)
|
rs767594582
|
0.00001
|
NM_018051.5(DYNC2I1):c.1228C>G (p.Leu410Val)
|
rs866385885
|
0.00001
|
NM_018051.5(DYNC2I1):c.1461-13A>G
|
rs749505270
|
0.00001
|
NM_018051.5(DYNC2I1):c.1628A>G (p.Asp543Gly)
|
rs1585131344
|
0.00001
|
NM_018051.5(DYNC2I1):c.1642G>A (p.Glu548Lys)
|
rs761082389
|
0.00001
|
NM_018051.5(DYNC2I1):c.1882A>G (p.Ser628Gly)
|
rs759364238
|
0.00001
|
NM_018051.5(DYNC2I1):c.1993G>A (p.Glu665Lys)
|
rs764530886
|
0.00001
|
NM_018051.5(DYNC2I1):c.2121G>T (p.Leu707Phe)
|
rs766537162
|
0.00001
|
NM_018051.5(DYNC2I1):c.2822C>T (p.Ser941Phe)
|
rs1585253516
|
0.00001
|
NM_018051.5(DYNC2I1):c.2841del (p.Gln947fs)
|
rs748645101
|
0.00001
|
NM_018051.5(DYNC2I1):c.3077C>T (p.Ala1026Val)
|
rs370850399
|
0.00001
|
NM_018051.5(DYNC2I1):c.3169G>A (p.Ala1057Thr)
|
rs1162389472
|
0.00001
|
NM_018051.5(DYNC2I1):c.436C>A (p.Gln146Lys)
|
rs1251160543
|
0.00001
|
NM_018051.5(DYNC2I1):c.574-10T>A
|
rs188181596
|
0.00001
|
NM_018051.5(DYNC2I1):c.633C>T (p.Gly211=)
|
rs375240436
|
0.00001
|
NM_018051.5(DYNC2I1):c.751A>C (p.Lys251Gln)
|
rs1200188970
|
0.00001
|
NM_018076.5(ODAD2):c.1019G>A (p.Arg340His)
|
rs370110172
|
0.00001
|
NM_018076.5(ODAD2):c.1257T>G (p.Ile419Met)
|
rs1162274365
|
0.00001
|
NM_018076.5(ODAD2):c.1297G>C (p.Asp433His)
|
rs1399843893
|
0.00001
|
NM_018076.5(ODAD2):c.130A>C (p.Lys44Gln)
|
rs372462289
|
0.00001
|
NM_018076.5(ODAD2):c.1386+4A>G
|
rs199776339
|
0.00001
|
NM_018076.5(ODAD2):c.1415C>T (p.Ala472Val)
|
rs756783412
|
0.00001
|
NM_018076.5(ODAD2):c.143A>G (p.Glu48Gly)
|
rs751140455
|
0.00001
|
NM_018076.5(ODAD2):c.1529G>A (p.Cys510Tyr)
|
rs1472984153
|
0.00001
|
NM_018076.5(ODAD2):c.1551A>G (p.Ile517Met)
|
rs767636563
|
0.00001
|
NM_018076.5(ODAD2):c.1553T>G (p.Leu518Arg)
|
rs1468995735
|
0.00001
|
NM_018076.5(ODAD2):c.1603G>C (p.Gly535Arg)
|
rs906233246
|
0.00001
|
NM_018076.5(ODAD2):c.1606G>A (p.Gly536Ser)
|
rs1334827223
|
0.00001
|
NM_018076.5(ODAD2):c.167C>A (p.Pro56Gln)
|
rs775110392
|
0.00001
|
NM_018076.5(ODAD2):c.1706G>A (p.Arg569Gln)
|
rs755007652
|
0.00001
|
NM_018076.5(ODAD2):c.1850G>T (p.Ser617Ile)
|
rs754364124
|
0.00001
|
NM_018076.5(ODAD2):c.1925A>G (p.Lys642Arg)
|
rs781094685
|
0.00001
|
NM_018076.5(ODAD2):c.1987G>A (p.Glu663Lys)
|
rs765376476
|
0.00001
|
NM_018076.5(ODAD2):c.2011G>A (p.Ala671Thr)
|
rs1060503678
|
0.00001
|
NM_018076.5(ODAD2):c.2083A>G (p.Met695Val)
|
rs1035929134
|
0.00001
|
NM_018076.5(ODAD2):c.2192G>A (p.Arg731Gln)
|
rs746405520
|
0.00001
|
NM_018076.5(ODAD2):c.220G>A (p.Val74Ile)
|
rs777599580
|
0.00001
|
NM_018076.5(ODAD2):c.2357A>G (p.Glu786Gly)
|
rs1483019713
|
0.00001
|
NM_018076.5(ODAD2):c.2491A>G (p.Met831Val)
|
rs762385193
|
0.00001
|
NM_018076.5(ODAD2):c.2501T>C (p.Ile834Thr)
|
rs150213638
|
0.00001
|
NM_018076.5(ODAD2):c.2839T>C (p.Ser947Pro)
|
rs772552604
|
0.00001
|
NM_018076.5(ODAD2):c.2842C>T (p.Arg948Cys)
|
rs746173842
|
0.00001
|
NM_018076.5(ODAD2):c.3013G>A (p.Ala1005Thr)
|
rs1167723751
|
0.00001
|
NM_018076.5(ODAD2):c.3113C>G (p.Thr1038Arg)
|
rs767489618
|
0.00001
|
NM_018076.5(ODAD2):c.394C>A (p.Pro132Thr)
|
rs760457381
|
0.00001
|
NM_018076.5(ODAD2):c.427A>G (p.Thr143Ala)
|
rs1432468402
|
0.00001
|
NM_018076.5(ODAD2):c.433A>G (p.Lys145Glu)
|
rs770294804
|
0.00001
|
NM_018076.5(ODAD2):c.468A>G (p.Lys156=)
|
rs780220531
|
0.00001
|
NM_018076.5(ODAD2):c.527A>G (p.Lys176Arg)
|
rs1328885643
|
0.00001
|
NM_018076.5(ODAD2):c.551A>G (p.Asn184Ser)
|
rs778996559
|
0.00001
|
NM_018076.5(ODAD2):c.647A>G (p.Asn216Ser)
|
rs981525890
|
0.00001
|
NM_018076.5(ODAD2):c.766G>A (p.Asp256Asn)
|
rs201056632
|
0.00001
|
NM_018076.5(ODAD2):c.985A>G (p.Lys329Glu)
|
rs1330553597
|
0.00001
|
NM_018139.3(DNAAF2):c.1069C>G (p.Pro357Ala)
|
rs1382686393
|
0.00001
|
NM_018139.3(DNAAF2):c.10G>A (p.Ala4Thr)
|
rs543582959
|
0.00001
|
NM_018139.3(DNAAF2):c.1130G>T (p.Gly377Val)
|
rs1401045306
|
0.00001
|
NM_018139.3(DNAAF2):c.1183G>A (p.Ala395Thr)
|
rs747641713
|
0.00001
|
NM_018139.3(DNAAF2):c.1252C>G (p.Pro418Ala)
|
rs547345322
|
0.00001
|
NM_018139.3(DNAAF2):c.137C>G (p.Pro46Arg)
|
rs537173870
|
0.00001
|
NM_018139.3(DNAAF2):c.154T>C (p.Tyr52His)
|
rs749085334
|
0.00001
|
NM_018139.3(DNAAF2):c.1563G>T (p.Leu521Phe)
|
rs1485202846
|
0.00001
|
NM_018139.3(DNAAF2):c.1622C>T (p.Pro541Leu)
|
rs757899121
|
0.00001
|
NM_018139.3(DNAAF2):c.1795G>A (p.Ala599Thr)
|
rs756765143
|
0.00001
|
NM_018139.3(DNAAF2):c.181C>T (p.Arg61Cys)
|
rs1253214739
|
0.00001
|
NM_018139.3(DNAAF2):c.1825A>G (p.Arg609Gly)
|
rs768172147
|
0.00001
|
NM_018139.3(DNAAF2):c.2134A>G (p.Ile712Val)
|
rs961303731
|
0.00001
|
NM_018139.3(DNAAF2):c.2314G>A (p.Glu772Lys)
|
rs1469795552
|
0.00001
|
NM_018139.3(DNAAF2):c.2428C>T (p.Gln810Ter)
|
rs747290752
|
0.00001
|
NM_018139.3(DNAAF2):c.2429A>G (p.Gln810Arg)
|
rs780416166
|
0.00001
|
NM_018139.3(DNAAF2):c.274G>C (p.Val92Leu)
|
rs1416652175
|
0.00001
|
NM_018139.3(DNAAF2):c.299C>G (p.Ala100Gly)
|
rs1246371500
|
0.00001
|
NM_018139.3(DNAAF2):c.334G>C (p.Gly112Arg)
|
rs1409395409
|
0.00001
|
NM_018139.3(DNAAF2):c.460G>A (p.Ala154Thr)
|
rs1302191659
|
0.00001
|
NM_018139.3(DNAAF2):c.544C>G (p.Arg182Gly)
|
rs1227265660
|
0.00001
|
NM_018139.3(DNAAF2):c.686A>G (p.Gln229Arg)
|
rs762538506
|
0.00001
|
NM_018139.3(DNAAF2):c.697G>A (p.Ala233Thr)
|
rs761407249
|
0.00001
|
NM_018139.3(DNAAF2):c.788T>C (p.Val263Ala)
|
rs564215636
|
0.00001
|
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys)
|
rs782672149
|
0.00001
|
NM_018718.3(CEP41):c.1028G>A (p.Arg343Gln)
|
rs782089459
|
0.00001
|
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser)
|
rs782590600
|
0.00001
|
NM_018718.3(CEP41):c.1061C>T (p.Ala354Val)
|
rs781832103
|
0.00001
|
NM_018718.3(CEP41):c.1081T>C (p.Ser361Pro)
|
rs587780311
|
0.00001
|
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)
|
rs201504407
|
0.00001
|
NM_018718.3(CEP41):c.145+3A>G
|
rs782008140
|
0.00001
|
NM_018718.3(CEP41):c.145+5G>A
|
rs1413177096
|
0.00001
|
NM_018718.3(CEP41):c.157A>G (p.Lys53Glu)
|
rs1554419921
|
0.00001
|
NM_018718.3(CEP41):c.164A>T (p.Asp55Val)
|
rs782776244
|
0.00001
|
NM_018718.3(CEP41):c.200C>T (p.Ala67Val)
|
rs782426353
|
0.00001
|
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly)
|
rs1554417870
|
0.00001
|
NM_018718.3(CEP41):c.308C>T (p.Ala103Val)
|
rs369687508
|
0.00001
|
NM_018718.3(CEP41):c.565A>G (p.Ile189Val)
|
rs782591147
|
0.00001
|
NM_018718.3(CEP41):c.637G>A (p.Glu213Lys)
|
rs782466306
|
0.00001
|
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys)
|
rs1554416667
|
0.00001
|
NM_018718.3(CEP41):c.826C>G (p.Gln276Glu)
|
rs782815662
|
0.00001
|
NM_018718.3(CEP41):c.850C>T (p.Arg284Trp)
|
rs782729874
|
0.00001
|
NM_018718.3(CEP41):c.929T>A (p.Ile310Lys)
|
rs782435349
|
0.00001
|
NM_018718.3(CEP41):c.971C>T (p.Pro324Leu)
|
rs782474335
|
0.00001
|
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter)
|
rs782286004
|
0.00001
|
NM_019892.6(INPP5E):c.1028C>A (p.Ser343Tyr)
|
rs1442522957
|
0.00001
|
NM_019892.6(INPP5E):c.1058A>G (p.Gln353Arg)
|
rs1835756247
|
0.00001
|
NM_019892.6(INPP5E):c.107C>G (p.Ala36Gly)
|
rs771207750
|
0.00001
|
NM_019892.6(INPP5E):c.1105G>A (p.Gly369Ser)
|
rs750574856
|
0.00001
|
NM_019892.6(INPP5E):c.1126T>C (p.Phe376Leu)
|
rs1835753606
|
0.00001
|
NM_019892.6(INPP5E):c.1160-6C>A
|
rs373495219
|
0.00001
|
NM_019892.6(INPP5E):c.1198C>G (p.Gln400Glu)
|
rs147285345
|
0.00001
|
NM_019892.6(INPP5E):c.1288G>A (p.Gly430Arg)
|
rs1203074338
|
0.00001
|
NM_019892.6(INPP5E):c.1318A>G (p.Thr440Ala)
|
rs752497011
|
0.00001
|
NM_019892.6(INPP5E):c.1331A>G (p.Gln444Arg)
|
rs545195109
|
0.00001
|
NM_019892.6(INPP5E):c.1375C>T (p.Arg459Cys)
|
rs1042895970
|
0.00001
|
NM_019892.6(INPP5E):c.1376G>A (p.Arg459His)
|
rs770146958
|
0.00001
|
NM_019892.6(INPP5E):c.1453G>A (p.Gly485Arg)
|
rs768384414
|
0.00001
|
NM_019892.6(INPP5E):c.163C>G (p.Pro55Ala)
|
rs1302116437
|
0.00001
|
NM_019892.6(INPP5E):c.1665G>A (p.Thr555=)
|
rs774331779
|
0.00001
|
NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys)
|
rs1024279229
|
0.00001
|
NM_019892.6(INPP5E):c.1687C>T (p.Arg563Cys)
|
rs371960390
|
0.00001
|
NM_019892.6(INPP5E):c.1700A>T (p.Asp567Val)
|
rs779177166
|
0.00001
|
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr)
|
rs765327224
|
0.00001
|
NM_019892.6(INPP5E):c.1808C>T (p.Pro603Leu)
|
rs746372090
|
0.00001
|
NM_019892.6(INPP5E):c.1919T>C (p.Ile640Thr)
|
rs753001340
|
0.00001
|
NM_019892.6(INPP5E):c.197G>A (p.Arg66Gln)
|
rs778236228
|
0.00001
|
NM_019892.6(INPP5E):c.208A>G (p.Ile70Val)
|
rs1202573963
|
0.00001
|
NM_019892.6(INPP5E):c.211G>A (p.Ala71Thr)
|
rs1835927935
|
0.00001
|
NM_019892.6(INPP5E):c.266A>G (p.Lys89Arg)
|
rs909863600
|
0.00001
|
NM_019892.6(INPP5E):c.302A>G (p.Glu101Gly)
|
rs1835922640
|
0.00001
|
NM_019892.6(INPP5E):c.314C>T (p.Ala105Val)
|
rs779751422
|
0.00001
|
NM_019892.6(INPP5E):c.341G>A (p.Gly114Asp)
|
rs1295096267
|
0.00001
|
NM_019892.6(INPP5E):c.35A>G (p.Glu12Gly)
|
rs1029781765
|
0.00001
|
NM_019892.6(INPP5E):c.450G>C (p.Glu150Asp)
|
rs1336319671
|
0.00001
|
NM_019892.6(INPP5E):c.473G>A (p.Gly158Asp)
|
rs1455781081
|
0.00001
|
NM_019892.6(INPP5E):c.479C>G (p.Pro160Arg)
|
rs774738007
|
0.00001
|
NM_019892.6(INPP5E):c.47A>G (p.Gln16Arg)
|
rs1835934684
|
0.00001
|
NM_019892.6(INPP5E):c.506C>T (p.Pro169Leu)
|
rs1232108345
|
0.00001
|
NM_019892.6(INPP5E):c.53C>T (p.Pro18Leu)
|
rs1295075168
|
0.00001
|
NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser)
|
rs754964359
|
0.00001
|
NM_019892.6(INPP5E):c.739G>T (p.Asp247Tyr)
|
rs749897420
|
0.00001
|
NM_019892.6(INPP5E):c.860C>T (p.Ala287Val)
|
rs752406011
|
0.00001
|
NM_019892.6(INPP5E):c.892A>T (p.Asn298Tyr)
|
rs1835793809
|
0.00001
|
NM_019892.6(INPP5E):c.964C>A (p.Leu322Met)
|
rs1451261136
|
0.00001
|
NM_020779.4(WDR35):c.1088C>T (p.Thr363Met)
|
rs200341288
|
0.00001
|
NM_020779.4(WDR35):c.10T>C (p.Tyr4His)
|
rs772365561
|
0.00001
|
NM_020779.4(WDR35):c.1104A>G (p.Lys368=)
|
rs745634789
|
0.00001
|
NM_020779.4(WDR35):c.1220T>C (p.Ile407Thr)
|
rs780584500
|
0.00001
|
NM_020779.4(WDR35):c.1276A>G (p.Thr426Ala)
|
rs1371644144
|
0.00001
|
NM_020779.4(WDR35):c.1310C>T (p.Ala437Val)
|
rs1671332812
|
0.00001
|
NM_020779.4(WDR35):c.1470+6T>C
|
rs1162916086
|
0.00001
|
NM_020779.4(WDR35):c.1526G>T (p.Gly509Val)
|
rs398123536
|
0.00001
|
NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser)
|
rs139252416
|
0.00001
|
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala)
|
rs758919526
|
0.00001
|
NM_020779.4(WDR35):c.1991G>A (p.Arg664Gln)
|
rs750367225
|
0.00001
|
NM_020779.4(WDR35):c.2524C>T (p.Pro842Ser)
|
rs777217654
|
0.00001
|
NM_020779.4(WDR35):c.2627C>G (p.Ala876Gly)
|
rs199849430
|
0.00001
|
NM_020779.4(WDR35):c.2672T>C (p.Val891Ala)
|
rs370706293
|
0.00001
|
NM_020779.4(WDR35):c.2779C>T (p.Arg927Trp)
|
rs149815363
|
0.00001
|
NM_020779.4(WDR35):c.2780G>A (p.Arg927Gln)
|
rs754997630
|
0.00001
|
NM_020779.4(WDR35):c.2900T>C (p.Ile967Thr)
|
rs776936691
|
0.00001
|
NM_020779.4(WDR35):c.308G>T (p.Gly103Val)
|
rs886055406
|
0.00001
|
NM_020779.4(WDR35):c.3122-3T>C
|
rs751769266
|
0.00001
|
NM_020779.4(WDR35):c.3190G>A (p.Ala1064Thr)
|
rs759338583
|
0.00001
|
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys)
|
rs978909925
|
0.00001
|
NM_020779.4(WDR35):c.485T>C (p.Val162Ala)
|
rs754439440
|
0.00001
|
NM_020779.4(WDR35):c.626G>A (p.Gly209Glu)
|
rs1410550467
|
0.00001
|
NM_020779.4(WDR35):c.722A>G (p.His241Arg)
|
rs138366348
|
0.00001
|
NM_020800.3(IFT80):c.1006A>G (p.Arg336Gly)
|
rs775835775
|
0.00001
|
NM_020800.3(IFT80):c.1121G>A (p.Gly374Glu)
|
rs1448235153
|
0.00001
|
NM_020800.3(IFT80):c.1158T>A (p.Phe386Leu)
|
rs755957651
|
0.00001
|
NM_020800.3(IFT80):c.1219C>T (p.Pro407Ser)
|
rs1345262813
|
0.00001
|
NM_020800.3(IFT80):c.1303G>A (p.Ala435Thr)
|
rs747879864
|
0.00001
|
NM_020800.3(IFT80):c.1316T>G (p.Ile439Arg)
|
rs780934693
|
0.00001
|
NM_020800.3(IFT80):c.1342G>A (p.Gly448Arg)
|
rs757507718
|
0.00001
|
NM_020800.3(IFT80):c.1376A>G (p.His459Arg)
|
rs1351949409
|
0.00001
|
NM_020800.3(IFT80):c.1522A>G (p.Met508Val)
|
rs747457756
|
0.00001
|
NM_020800.3(IFT80):c.1546G>A (p.Asp516Asn)
|
rs1328308378
|
0.00001
|
NM_020800.3(IFT80):c.1552T>C (p.Cys518Arg)
|
rs1418914019
|
0.00001
|
NM_020800.3(IFT80):c.1607A>G (p.Asn536Ser)
|
rs1299756605
|
0.00001
|
NM_020800.3(IFT80):c.1610C>G (p.Thr537Arg)
|
rs149274965
|
0.00001
|
NM_020800.3(IFT80):c.1627G>A (p.Asp543Asn)
|
rs535870220
|
0.00001
|
NM_020800.3(IFT80):c.1628A>G (p.Asp543Gly)
|
rs746408528
|
0.00001
|
NM_020800.3(IFT80):c.1675A>G (p.Lys559Glu)
|
rs1248669654
|
0.00001
|
NM_020800.3(IFT80):c.1715C>T (p.Thr572Ile)
|
rs751538474
|
0.00001
|
NM_020800.3(IFT80):c.178A>G (p.Ile60Val)
|
rs780018349
|
0.00001
|
NM_020800.3(IFT80):c.1836+5T>C
|
rs373116334
|
0.00001
|
NM_020800.3(IFT80):c.1858C>G (p.Leu620Val)
|
rs1037844686
|
0.00001
|
NM_020800.3(IFT80):c.1954A>G (p.Ile652Val)
|
rs779103873
|
0.00001
|
NM_020800.3(IFT80):c.1997T>C (p.Leu666Pro)
|
rs754345105
|
0.00001
|
NM_020800.3(IFT80):c.2116G>A (p.Val706Ile)
|
rs943067730
|
0.00001
|
NM_020800.3(IFT80):c.2149G>A (p.Ala717Thr)
|
rs370294182
|
0.00001
|
NM_020800.3(IFT80):c.2155C>T (p.Arg719Cys)
|
rs764764460
|
0.00001
|
NM_020800.3(IFT80):c.2179G>A (p.Gly727Ser)
|
rs977361551
|
0.00001
|
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter)
|
rs375941259
|
0.00001
|
NM_020800.3(IFT80):c.2244A>T (p.Lys748Asn)
|
rs769905264
|
0.00001
|
NM_020800.3(IFT80):c.2245A>G (p.Ile749Val)
|
rs891421267
|
0.00001
|
NM_020800.3(IFT80):c.2297G>C (p.Ser766Thr)
|
rs745522185
|
0.00001
|
NM_020800.3(IFT80):c.269A>G (p.His90Arg)
|
rs762134619
|
0.00001
|
NM_020800.3(IFT80):c.352G>A (p.Gly118Arg)
|
rs1193677073
|
0.00001
|
NM_020800.3(IFT80):c.38-1C>G
|
rs779785603
|
0.00001
|
NM_020800.3(IFT80):c.461C>T (p.Ala154Val)
|
rs899479641
|
0.00001
|
NM_020800.3(IFT80):c.517A>C (p.Lys173Gln)
|
rs1327849611
|
0.00001
|
NM_020800.3(IFT80):c.521C>T (p.Pro174Leu)
|
rs554727578
|
0.00001
|
NM_020800.3(IFT80):c.599A>G (p.Asn200Ser)
|
rs1468017879
|
0.00001
|
NM_020800.3(IFT80):c.619G>A (p.Gly207Ser)
|
rs756838676
|
0.00001
|
NM_020800.3(IFT80):c.624A>C (p.Glu208Asp)
|
rs1278015440
|
0.00001
|
NM_020800.3(IFT80):c.658C>T (p.Arg220Cys)
|
rs373133351
|
0.00001
|
NM_020800.3(IFT80):c.680C>T (p.Pro227Leu)
|
rs764107423
|
0.00001
|
NM_020800.3(IFT80):c.685G>A (p.Glu229Lys)
|
rs1721069446
|
0.00001
|
NM_020800.3(IFT80):c.743C>T (p.Ser248Leu)
|
rs754764834
|
0.00001
|
NM_021147.5(CCNO):c.1012C>G (p.Gln338Glu)
|
rs770421646
|
0.00001
|
NM_021147.5(CCNO):c.166G>A (p.Gly56Ser)
|
rs1489774896
|
0.00001
|
NM_021147.5(CCNO):c.208G>A (p.Gly70Ser)
|
rs369830529
|
0.00001
|
NM_021147.5(CCNO):c.219C>G (p.Ser73Arg)
|
rs1405417412
|
0.00001
|
NM_021147.5(CCNO):c.371G>T (p.Arg124Leu)
|
rs750998590
|
0.00001
|
NM_021147.5(CCNO):c.463T>A (p.Cys155Ser)
|
rs758456393
|
0.00001
|
NM_021147.5(CCNO):c.589G>C (p.Val197Leu)
|
rs751534793
|
0.00001
|
NM_021147.5(CCNO):c.724C>T (p.His242Tyr)
|
rs1745584991
|
0.00001
|
NM_021147.5(CCNO):c.788G>C (p.Arg263Pro)
|
rs746811253
|
0.00001
|
NM_021147.5(CCNO):c.808C>A (p.Leu270Met)
|
rs748700550
|
0.00001
|
NM_021147.5(CCNO):c.866C>T (p.Ala289Val)
|
rs773419820
|
0.00001
|
NM_021147.5(CCNO):c.949A>C (p.Met317Leu)
|
rs780967882
|
0.00001
|
NM_021147.5(CCNO):c.989C>T (p.Ser330Phe)
|
rs750696117
|
0.00001
|
NM_021147.5(CCNO):c.997C>T (p.His333Tyr)
|
rs368310145
|
0.00001
|
NM_023036.6(DNAI2):c.1347+6G>A
|
rs769832640
|
0.00001
|
NM_023036.6(DNAI2):c.1415A>G (p.Gln472Arg)
|
rs765028301
|
0.00001
|
NM_023036.6(DNAI2):c.1543C>T (p.Arg515Trp)
|
rs748717910
|
0.00001
|
NM_023036.6(DNAI2):c.1619A>T (p.Asp540Val)
|
rs794727074
|
0.00001
|
NM_023036.6(DNAI2):c.1699G>A (p.Ala567Thr)
|
rs778391861
|
0.00001
|
NM_023036.6(DNAI2):c.215G>A (p.Arg72Gln)
|
rs200668134
|
0.00001
|
NM_023036.6(DNAI2):c.265G>A (p.Glu89Lys)
|
rs1200979339
|
0.00001
|
NM_023036.6(DNAI2):c.380T>C (p.Ile127Thr)
|
rs372975955
|
0.00001
|
NM_023036.6(DNAI2):c.43G>A (p.Gly15Arg)
|
rs758997612
|
0.00001
|
NM_023036.6(DNAI2):c.467+5C>T
|
rs529401265
|
0.00001
|
NM_023036.6(DNAI2):c.521G>A (p.Gly174Asp)
|
rs978797882
|
0.00001
|
NM_023036.6(DNAI2):c.866T>C (p.Val289Ala)
|
rs761883293
|
0.00001
|
NM_023036.6(DNAI2):c.947A>T (p.Asn316Ile)
|
rs774323743
|
0.00001
|
NM_023036.6(DNAI2):c.978A>T (p.Glu326Asp)
|
rs763193003
|
0.00001
|
NM_024649.5(BBS1):c.104A>G (p.His35Arg)
|
rs775990952
|
0.00001
|
NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp)
|
rs747656068
|
0.00001
|
NM_024649.5(BBS1):c.1066C>T (p.Arg356Cys)
|
rs747459381
|
0.00001
|
NM_024649.5(BBS1):c.10G>T (p.Ala4Ser)
|
rs745375133
|
0.00001
|
NM_024649.5(BBS1):c.1144G>A (p.Gly382Arg)
|
rs377297999
|
0.00001
|
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp)
|
rs143495423
|
0.00001
|
NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln)
|
rs772235333
|
0.00001
|
NM_024649.5(BBS1):c.1253C>T (p.Pro418Leu)
|
rs1410252393
|
0.00001
|
NM_024649.5(BBS1):c.1294C>T (p.Arg432Trp)
|
rs767247916
|
0.00001
|
NM_024649.5(BBS1):c.1303G>A (p.Val435Met)
|
rs1181760871
|
0.00001
|
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)
|
rs374356964
|
0.00001
|
NM_024649.5(BBS1):c.1396G>A (p.Ala466Thr)
|
rs1271245314
|
0.00001
|
NM_024649.5(BBS1):c.1442C>T (p.Thr481Ile)
|
rs757132669
|
0.00001
|
NM_024649.5(BBS1):c.1448G>A (p.Arg483Gln)
|
rs779828966
|
0.00001
|
NM_024649.5(BBS1):c.1471G>A (p.Val491Met)
|
rs377469172
|
0.00001
|
NM_024649.5(BBS1):c.1487G>A (p.Gly496Asp)
|
rs1306126953
|
0.00001
|
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu)
|
rs766602837
|
0.00001
|
NM_024649.5(BBS1):c.159G>A (p.Lys53=)
|
rs1262106058
|
0.00001
|
NM_024649.5(BBS1):c.1640C>A (p.Pro547His)
|
rs774636593
|
0.00001
|
NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp)
|
rs544767888
|
0.00001
|
NM_024649.5(BBS1):c.1687A>G (p.Ile563Val)
|
rs374048871
|
0.00001
|
NM_024649.5(BBS1):c.1714G>A (p.Gly572Ser)
|
rs758544060
|
0.00001
|
NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys)
|
rs761304709
|
0.00001
|
NM_024649.5(BBS1):c.184G>C (p.Gly62Arg)
|
rs763878620
|
0.00001
|
NM_024649.5(BBS1):c.199C>T (p.Arg67Cys)
|
rs767385250
|
0.00001
|
NM_024649.5(BBS1):c.242C>T (p.Pro81Leu)
|
rs1479663514
|
0.00001
|
NM_024649.5(BBS1):c.280A>G (p.Met94Val)
|
rs1376711744
|
0.00001
|
NM_024649.5(BBS1):c.32C>T (p.Ala11Val)
|
rs150122944
|
0.00001
|
NM_024649.5(BBS1):c.338A>T (p.Tyr113Phe)
|
rs753517084
|
0.00001
|
NM_024649.5(BBS1):c.445C>T (p.Pro149Ser)
|
rs762511224
|
0.00001
|
NM_024649.5(BBS1):c.464T>C (p.Met155Thr)
|
rs879524751
|
0.00001
|
NM_024649.5(BBS1):c.48C>T (p.Ser16=)
|
rs200255383
|
0.00001
|
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala)
|
rs748946143
|
0.00001
|
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg)
|
rs774163850
|
0.00001
|
NM_024649.5(BBS1):c.533A>G (p.Glu178Gly)
|
rs1454643152
|
0.00001
|
NM_024649.5(BBS1):c.575A>G (p.Asn192Ser)
|
rs1207942097
|
0.00001
|
NM_024649.5(BBS1):c.587G>A (p.Arg196Gln)
|
rs142769864
|
0.00001
|
NM_024649.5(BBS1):c.595G>A (p.Val199Ile)
|
rs1300549627
|
0.00001
|
NM_024649.5(BBS1):c.602C>T (p.Thr201Ile)
|
rs1368294392
|
0.00001
|
NM_024649.5(BBS1):c.646G>A (p.Val216Met)
|
rs764165386
|
0.00001
|
NM_024649.5(BBS1):c.708C>G (p.Phe236Leu)
|
rs1482951221
|
0.00001
|
NM_024649.5(BBS1):c.739G>A (p.Val247Ile)
|
rs763004810
|
0.00001
|
NM_024649.5(BBS1):c.772G>C (p.Asp258His)
|
rs779297419
|
0.00001
|
NM_024649.5(BBS1):c.818A>G (p.Tyr273Cys)
|
rs765732035
|
0.00001
|
NM_024685.4(BBS10):c.1088C>T (p.Pro363Leu)
|
rs938066133
|
0.00001
|
NM_024685.4(BBS10):c.1123A>T (p.Ile375Phe)
|
rs1289641509
|
0.00001
|
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe)
|
rs775492103
|
0.00001
|
NM_024685.4(BBS10):c.1198T>C (p.Cys400Arg)
|
rs1951762407
|
0.00001
|
NM_024685.4(BBS10):c.1211A>G (p.His404Arg)
|
rs964776134
|
0.00001
|
NM_024685.4(BBS10):c.1234G>C (p.Asp412His)
|
rs1413288461
|
0.00001
|
NM_024685.4(BBS10):c.1339A>G (p.Ile447Val)
|
rs1460652135
|
0.00001
|
NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly)
|
rs933207351
|
0.00001
|
NM_024685.4(BBS10):c.1516T>A (p.Tyr506Asn)
|
rs750994616
|
0.00001
|
NM_024685.4(BBS10):c.1588A>G (p.Arg530Gly)
|
rs1951758303
|
0.00001
|
NM_024685.4(BBS10):c.1628A>G (p.Asn543Ser)
|
rs1444034224
|
0.00001
|
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys)
|
rs758489303
|
0.00001
|
NM_024685.4(BBS10):c.1741C>T (p.Pro581Ser)
|
rs1453771610
|
0.00001
|
NM_024685.4(BBS10):c.190A>G (p.Ile64Val)
|
rs755814743
|
0.00001
|
NM_024685.4(BBS10):c.1918A>G (p.Ile640Val)
|
rs748647079
|
0.00001
|
NM_024685.4(BBS10):c.196A>G (p.Arg66Gly)
|
rs780874811
|
0.00001
|
NM_024685.4(BBS10):c.197+5C>T
|
rs754503828
|
0.00001
|
NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys)
|
rs778614911
|
0.00001
|
NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp)
|
rs756069503
|
0.00001
|
NM_024685.4(BBS10):c.206T>A (p.Val69Glu)
|
rs1176176320
|
0.00001
|
NM_024685.4(BBS10):c.2132C>T (p.Pro711Leu)
|
rs202134724
|
0.00001
|
NM_024685.4(BBS10):c.2156C>G (p.Ser719Ter)
|
rs959224608
|
0.00001
|
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe)
|
rs767638924
|
0.00001
|
NM_024685.4(BBS10):c.235A>G (p.Thr79Ala)
|
rs899733320
|
0.00001
|
NM_024685.4(BBS10):c.292C>A (p.His98Asn)
|
rs748465517
|
0.00001
|
NM_024685.4(BBS10):c.327G>A (p.Met109Ile)
|
rs1051916652
|
0.00001
|
NM_024685.4(BBS10):c.337A>G (p.Ile113Val)
|
rs969686018
|
0.00001
|
NM_024685.4(BBS10):c.343A>G (p.Thr115Ala)
|
rs147432159
|
0.00001
|
NM_024685.4(BBS10):c.344C>T (p.Thr115Ile)
|
rs1254886838
|
0.00001
|
NM_024685.4(BBS10):c.380A>G (p.Lys127Arg)
|
rs936655028
|
0.00001
|
NM_024685.4(BBS10):c.389C>T (p.Ser130Phe)
|
rs766572403
|
0.00001
|
NM_024685.4(BBS10):c.397C>G (p.Leu133Val)
|
rs750446869
|
0.00001
|
NM_024685.4(BBS10):c.411G>T (p.Gln137His)
|
rs775342373
|
0.00001
|
NM_024685.4(BBS10):c.434T>C (p.Met145Thr)
|
rs144312522
|
0.00001
|
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly)
|
rs775747309
|
0.00001
|
NM_024685.4(BBS10):c.653T>A (p.Phe218Tyr)
|
rs1316090880
|
0.00001
|
NM_024685.4(BBS10):c.691T>C (p.Ser231Pro)
|
rs777951931
|
0.00001
|
NM_024685.4(BBS10):c.763A>G (p.Met255Val)
|
rs772739860
|
0.00001
|
NM_024685.4(BBS10):c.7A>C (p.Ser3Arg)
|
rs1396450993
|
0.00001
|
NM_024685.4(BBS10):c.934A>G (p.Ser312Gly)
|
rs759385121
|
0.00001
|
NM_024685.4(BBS10):c.986C>T (p.Ser329Leu)
|
rs1000990130
|
0.00001
|
NM_024753.5(TTC21B):c.1022A>C (p.Lys341Thr)
|
rs1686837269
|
0.00001
|
NM_024753.5(TTC21B):c.105T>G (p.Ser35Arg)
|
rs750039189
|
0.00001
|
NM_024753.5(TTC21B):c.1088-3T>C
|
rs761658519
|
0.00001
|
NM_024753.5(TTC21B):c.117C>G (p.Phe39Leu)
|
rs1559078793
|
0.00001
|
NM_024753.5(TTC21B):c.1186-10T>G
|
rs1352577616
|
0.00001
|
NM_024753.5(TTC21B):c.1259A>G (p.Asn420Ser)
|
rs1267990831
|
0.00001
|
NM_024753.5(TTC21B):c.1277A>G (p.His426Arg)
|
rs981361200
|
0.00001
|
NM_024753.5(TTC21B):c.1301C>G (p.Pro434Arg)
|
rs971283288
|
0.00001
|
NM_024753.5(TTC21B):c.1327C>G (p.Leu443Val)
|
rs772177785
|
0.00001
|
NM_024753.5(TTC21B):c.1406C>G (p.Pro469Arg)
|
rs370444625
|
0.00001
|
NM_024753.5(TTC21B):c.1431C>G (p.Cys477Trp)
|
rs751822992
|
0.00001
|
NM_024753.5(TTC21B):c.1432A>T (p.Ile478Phe)
|
rs948455096
|
0.00001
|
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg)
|
rs748993825
|
0.00001
|
NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr)
|
rs866222900
|
0.00001
|
NM_024753.5(TTC21B):c.1543C>T (p.Leu515Phe)
|
rs1246746208
|
0.00001
|
NM_024753.5(TTC21B):c.1609T>G (p.Leu537Val)
|
rs200916824
|
0.00001
|
NM_024753.5(TTC21B):c.1643C>G (p.Ser548Cys)
|
rs777801181
|
0.00001
|
NM_024753.5(TTC21B):c.1685A>G (p.Tyr562Cys)
|
rs1686220039
|
0.00001
|
NM_024753.5(TTC21B):c.1687C>G (p.Pro563Ala)
|
rs757173737
|
0.00001
|
NM_024753.5(TTC21B):c.169C>T (p.Leu57Phe)
|
rs139392369
|
0.00001
|
NM_024753.5(TTC21B):c.1793T>C (p.Ile598Thr)
|
rs143612688
|
0.00001
|
NM_024753.5(TTC21B):c.1876G>A (p.Val626Ile)
|
rs144411419
|
0.00001
|
NM_024753.5(TTC21B):c.1882C>T (p.Arg628Cys)
|
rs367855384
|
0.00001
|
NM_024753.5(TTC21B):c.1A>G (p.Met1Val)
|
rs1435376086
|
0.00001
|
NM_024753.5(TTC21B):c.2123A>G (p.Tyr708Cys)
|
rs756694027
|
0.00001
|
NM_024753.5(TTC21B):c.2138G>T (p.Arg713Ile)
|
rs781708463
|
0.00001
|
NM_024753.5(TTC21B):c.2167C>T (p.Arg723Trp)
|
rs201500142
|
0.00001
|
NM_024753.5(TTC21B):c.226G>T (p.Ala76Ser)
|
rs1272269691
|
0.00001
|
NM_024753.5(TTC21B):c.2324C>T (p.Ala775Val)
|
rs753608608
|
0.00001
|
NM_024753.5(TTC21B):c.2344G>C (p.Ala782Pro)
|
rs752254910
|
0.00001
|
NM_024753.5(TTC21B):c.2360A>G (p.Gln787Arg)
|
rs760057103
|
0.00001
|
NM_024753.5(TTC21B):c.2416G>C (p.Asp806His)
|
rs1685925440
|
0.00001
|
NM_024753.5(TTC21B):c.2441A>G (p.His814Arg)
|
rs965238984
|
0.00001
|
NM_024753.5(TTC21B):c.2483T>C (p.Met828Thr)
|
rs767841175
|
0.00001
|
NM_024753.5(TTC21B):c.2494C>T (p.Arg832Cys)
|
rs1439121645
|
0.00001
|
NM_024753.5(TTC21B):c.2540T>C (p.Leu847Pro)
|
rs750709791
|
0.00001
|
NM_024753.5(TTC21B):c.2572C>G (p.Arg858Gly)
|
rs895624584
|
0.00001
|
NM_024753.5(TTC21B):c.2599C>T (p.Arg867Cys)
|
rs746700857
|
0.00001
|
NM_024753.5(TTC21B):c.2636A>C (p.Gln879Pro)
|
rs375464714
|
0.00001
|
NM_024753.5(TTC21B):c.2698T>A (p.Tyr900Asn)
|
rs1336338964
|
0.00001
|
NM_024753.5(TTC21B):c.2699A>G (p.Tyr900Cys)
|
rs766007738
|
0.00001
|
NM_024753.5(TTC21B):c.2726A>T (p.Glu909Val)
|
rs1433947584
|
0.00001
|
NM_024753.5(TTC21B):c.2734G>C (p.Val912Leu)
|
rs756613993
|
0.00001
|
NM_024753.5(TTC21B):c.2782T>C (p.Tyr928His)
|
rs1685493736
|
0.00001
|
NM_024753.5(TTC21B):c.2810G>T (p.Cys937Phe)
|
rs184561530
|
0.00001
|
NM_024753.5(TTC21B):c.2866A>G (p.Met956Val)
|
rs746138925
|
0.00001
|
NM_024753.5(TTC21B):c.2941C>T (p.Arg981Cys)
|
rs749278599
|
0.00001
|
NM_024753.5(TTC21B):c.2961G>A (p.Met987Ile)
|
rs778812999
|
0.00001
|
NM_024753.5(TTC21B):c.3032T>C (p.Met1011Thr)
|
rs777427926
|
0.00001
|
NM_024753.5(TTC21B):c.3034G>A (p.Ala1012Thr)
|
rs769459956
|
0.00001
|
NM_024753.5(TTC21B):c.3044G>A (p.Arg1015His)
|
rs1235756793
|
0.00001
|
NM_024753.5(TTC21B):c.305A>G (p.Gln102Arg)
|
rs748245713
|
0.00001
|
NM_024753.5(TTC21B):c.3158G>A (p.Arg1053His)
|
rs768306526
|
0.00001
|
NM_024753.5(TTC21B):c.3190A>T (p.Ile1064Leu)
|
rs1004469692
|
0.00001
|
NM_024753.5(TTC21B):c.3265A>G (p.Asn1089Asp)
|
rs1403922219
|
0.00001
|
NM_024753.5(TTC21B):c.3350A>C (p.Gln1117Pro)
|
rs148631747
|
0.00001
|
NM_024753.5(TTC21B):c.3358G>A (p.Val1120Ile)
|
rs746123823
|
0.00001
|
NM_024753.5(TTC21B):c.3383A>G (p.Tyr1128Cys)
|
rs1685078744
|
0.00001
|
NM_024753.5(TTC21B):c.3423A>G (p.Gln1141=)
|
rs1176724856
|
0.00001
|
NM_024753.5(TTC21B):c.3460-3T>C
|
rs754665883
|
0.00001
|
NM_024753.5(TTC21B):c.3500A>G (p.Tyr1167Cys)
|
rs1040877016
|
0.00001
|
NM_024753.5(TTC21B):c.3524G>A (p.Arg1175Gln)
|
rs987977269
|
0.00001
|
NM_024753.5(TTC21B):c.3545G>A (p.Arg1182His)
|
rs199658616
|
0.00001
|
NM_024753.5(TTC21B):c.3548T>C (p.Ile1183Thr)
|
rs780846081
|
0.00001
|
NM_024753.5(TTC21B):c.3551C>T (p.Ala1184Val)
|
rs754751728
|
0.00001
|
NM_024753.5(TTC21B):c.3586T>G (p.Phe1196Val)
|
rs754307147
|
0.00001
|
NM_024753.5(TTC21B):c.3622A>G (p.Ile1208Val)
|
rs760982788
|
0.00001
|
NM_024753.5(TTC21B):c.3668G>T (p.Cys1223Phe)
|
rs1225739712
|
0.00001
|
NM_024753.5(TTC21B):c.3674G>A (p.Arg1225His)
|
rs1231210163
|
0.00001
|
NM_024753.5(TTC21B):c.3680A>G (p.Asn1227Ser)
|
rs771598715
|
0.00001
|
NM_024753.5(TTC21B):c.368G>A (p.Arg123His)
|
rs370484375
|
0.00001
|
NM_024753.5(TTC21B):c.3791C>T (p.Thr1264Ile)
|
rs569067100
|
0.00001
|
NM_024753.5(TTC21B):c.3886del (p.His1296fs)
|
rs1452582965
|
0.00001
|
NM_024753.5(TTC21B):c.3915T>A (p.Asp1305Glu)
|
rs756943619
|
0.00001
|
NM_024753.5(TTC21B):c.412T>C (p.Ser138Pro)
|
rs1315060629
|
0.00001
|
NM_024753.5(TTC21B):c.419G>A (p.Gly140Asp)
|
rs779381150
|
0.00001
|
NM_024753.5(TTC21B):c.499T>G (p.Tyr167Asp)
|
rs776678493
|
0.00001
|
NM_024753.5(TTC21B):c.518A>C (p.Gln173Pro)
|
rs775266613
|
0.00001
|
NM_024753.5(TTC21B):c.51A>G (p.Arg17=)
|
rs1242174524
|
0.00001
|
NM_024753.5(TTC21B):c.550A>G (p.Lys184Glu)
|
rs748570902
|
0.00001
|
NM_024753.5(TTC21B):c.572G>A (p.Arg191His)
|
rs781486283
|
0.00001
|
NM_024753.5(TTC21B):c.670G>A (p.Ala224Thr)
|
rs1423263208
|
0.00001
|
NM_024753.5(TTC21B):c.718C>T (p.Leu240Phe)
|
rs1338382358
|
0.00001
|
NM_024753.5(TTC21B):c.8C>T (p.Ser3Leu)
|
rs1364155246
|
0.00001
|
NM_024753.5(TTC21B):c.914T>C (p.Ile305Thr)
|
rs1217195888
|
0.00001
|
NM_024753.5(TTC21B):c.946G>T (p.Ala316Ser)
|
rs1366178129
|
0.00001
|
NM_024753.5(TTC21B):c.985G>A (p.Glu329Lys)
|
rs768266139
|
0.00001
|
NM_024809.5(TCTN2):c.1060G>A (p.Glu354Lys)
|
rs953263200
|
0.00001
|
NM_024809.5(TCTN2):c.113G>A (p.Gly38Asp)
|
rs765101825
|
0.00001
|
NM_024809.5(TCTN2):c.1180A>T (p.Ile394Phe)
|
rs774166162
|
0.00001
|
NM_024809.5(TCTN2):c.1236G>T (p.Gly412=)
|
rs376630400
|
0.00001
|
NM_024809.5(TCTN2):c.1321C>T (p.Leu441Phe)
|
rs752861868
|
0.00001
|
NM_024809.5(TCTN2):c.1370C>T (p.Thr457Met)
|
rs202078439
|
0.00001
|
NM_024809.5(TCTN2):c.1430C>T (p.Pro477Leu)
|
rs749989620
|
0.00001
|
NM_024809.5(TCTN2):c.1462T>A (p.Cys488Ser)
|
rs765771036
|
0.00001
|
NM_024809.5(TCTN2):c.1477G>A (p.Gly493Arg)
|
rs375717971
|
0.00001
|
NM_024809.5(TCTN2):c.1651A>G (p.Ser551Gly)
|
rs774515451
|
0.00001
|
NM_024809.5(TCTN2):c.1663G>A (p.Gly555Ser)
|
rs776273224
|
0.00001
|
NM_024809.5(TCTN2):c.1700G>A (p.Arg567His)
|
rs780065531
|
0.00001
|
NM_024809.5(TCTN2):c.17C>T (p.Pro6Leu)
|
rs1362649464
|
0.00001
|
NM_024809.5(TCTN2):c.1829T>C (p.Leu610Pro)
|
rs554338311
|
0.00001
|
NM_024809.5(TCTN2):c.1849G>A (p.Val617Ile)
|
rs376095561
|
0.00001
|
NM_024809.5(TCTN2):c.184G>C (p.Glu62Gln)
|
rs774994149
|
0.00001
|
NM_024809.5(TCTN2):c.185A>C (p.Glu62Ala)
|
rs376100033
|
0.00001
|
NM_024809.5(TCTN2):c.1966T>C (p.Trp656Arg)
|
rs756649431
|
0.00001
|
NM_024809.5(TCTN2):c.2087A>G (p.Tyr696Cys)
|
rs188690113
|
0.00001
|
NM_024809.5(TCTN2):c.267+4A>C
|
rs199924687
|
0.00001
|
NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys)
|
rs757725319
|
0.00001
|
NM_024809.5(TCTN2):c.335C>T (p.Ser112Phe)
|
rs1955784094
|
0.00001
|
NM_024809.5(TCTN2):c.419A>G (p.Gln140Arg)
|
rs375814526
|
0.00001
|
NM_024809.5(TCTN2):c.469G>A (p.Val157Met)
|
rs1299672825
|
0.00001
|
NM_024809.5(TCTN2):c.490G>A (p.Val164Met)
|
rs776834352
|
0.00001
|
NM_024809.5(TCTN2):c.622G>C (p.Gly208Arg)
|
rs1026850270
|
0.00001
|
NM_024809.5(TCTN2):c.677G>A (p.Arg226His)
|
rs774785140
|
0.00001
|
NM_024809.5(TCTN2):c.688G>A (p.Asp230Asn)
|
rs987899301
|
0.00001
|
NM_024809.5(TCTN2):c.707G>A (p.Cys236Tyr)
|
rs1267166699
|
0.00001
|
NM_024809.5(TCTN2):c.731C>T (p.Thr244Ile)
|
rs760376471
|
0.00001
|
NM_024809.5(TCTN2):c.796T>C (p.Tyr266His)
|
rs770325331
|
0.00001
|
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu)
|
rs750458642
|
0.00001
|
NM_024809.5(TCTN2):c.89T>C (p.Ile30Thr)
|
rs760245764
|
0.00001
|
NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu)
|
rs759754931
|
0.00001
|
NM_024809.5(TCTN2):c.914T>C (p.Met305Thr)
|
rs1166016156
|
0.00001
|
NM_025114.4(CEP290):c.101A>T (p.Lys34Met)
|
rs574089816
|
0.00001
|
NM_025114.4(CEP290):c.1028T>C (p.Leu343Pro)
|
rs1429640081
|
0.00001
|
NM_025114.4(CEP290):c.1042A>T (p.Ser348Cys)
|
rs753281190
|
0.00001
|
NM_025114.4(CEP290):c.1066-3T>C
|
rs996569804
|
0.00001
|
NM_025114.4(CEP290):c.10A>G (p.Asn4Asp)
|
rs997653455
|
0.00001
|
NM_025114.4(CEP290):c.1150A>G (p.Ile384Val)
|
rs375428355
|
0.00001
|
NM_025114.4(CEP290):c.1169A>G (p.Asn390Ser)
|
rs891165640
|
0.00001
|
NM_025114.4(CEP290):c.1198A>G (p.Thr400Ala)
|
rs772026871
|
0.00001
|
NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile)
|
rs781183605
|
0.00001
|
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu)
|
rs376808205
|
0.00001
|
NM_025114.4(CEP290):c.1334_1339del (p.Leu445_Lys446del)
|
rs1323191320
|
0.00001
|
NM_025114.4(CEP290):c.136G>A (p.Glu46Lys)
|
rs1018550969
|
0.00001
|
NM_025114.4(CEP290):c.1430G>A (p.Arg477Gln)
|
rs748917889
|
0.00001
|
NM_025114.4(CEP290):c.1484A>G (p.Asp495Gly)
|
rs1228969929
|
0.00001
|
NM_025114.4(CEP290):c.1517G>A (p.Arg506His)
|
rs866571949
|
0.00001
|
NM_025114.4(CEP290):c.1536G>T (p.Lys512Asn)
|
rs750163383
|
0.00001
|
NM_025114.4(CEP290):c.1623+2C>A
|
rs2039218006
|
0.00001
|
NM_025114.4(CEP290):c.1626T>G (p.Ile542Met)
|
rs762272190
|
0.00001
|
NM_025114.4(CEP290):c.1646G>A (p.Arg549Gln)
|
rs774824252
|
0.00001
|
NM_025114.4(CEP290):c.1665A>T (p.Lys555Asn)
|
rs374824892
|
0.00001
|
NM_025114.4(CEP290):c.1711+6C>T
|
rs1285486059
|
0.00001
|
NM_025114.4(CEP290):c.1765A>T (p.Ile589Leu)
|
rs770829686
|
0.00001
|
NM_025114.4(CEP290):c.1826A>G (p.Asn609Ser)
|
rs761662102
|
0.00001
|
NM_025114.4(CEP290):c.1850T>C (p.Ile617Thr)
|
rs776346956
|
0.00001
|
NM_025114.4(CEP290):c.1952T>C (p.Met651Thr)
|
rs772165172
|
0.00001
|
NM_025114.4(CEP290):c.1953G>A (p.Met651Ile)
|
rs1402439930
|
0.00001
|
NM_025114.4(CEP290):c.1999G>A (p.Val667Ile)
|
rs1374826842
|
0.00001
|
NM_025114.4(CEP290):c.2056A>G (p.Ile686Val)
|
rs1189284598
|
0.00001
|
NM_025114.4(CEP290):c.2068A>C (p.Asn690His)
|
rs398124411
|
0.00001
|
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile)
|
rs769216455
|
0.00001
|
NM_025114.4(CEP290):c.2131A>G (p.Arg711Gly)
|
rs758037479
|
0.00001
|
NM_025114.4(CEP290):c.2168G>A (p.Arg723Gln)
|
rs764117043
|
0.00001
|
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser)
|
rs752513342
|
0.00001
|
NM_025114.4(CEP290):c.2216A>T (p.Lys739Met)
|
rs1378036383
|
0.00001
|
NM_025114.4(CEP290):c.2320G>C (p.Ala774Pro)
|
rs777365811
|
0.00001
|
NM_025114.4(CEP290):c.2329A>G (p.Ile777Val)
|
rs2038667110
|
0.00001
|
NM_025114.4(CEP290):c.2348A>G (p.Tyr783Cys)
|
rs780990839
|
0.00001
|
NM_025114.4(CEP290):c.2408A>G (p.Asp803Gly)
|
rs927571972
|
0.00001
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
NM_025114.4(CEP290):c.2587-3C>T
|
rs759025964
|
0.00001
|
NM_025114.4(CEP290):c.2608A>C (p.Met870Leu)
|
rs2038321332
|
0.00001
|
NM_025114.4(CEP290):c.2691A>G (p.Ile897Met)
|
rs774079924
|
0.00001
|
NM_025114.4(CEP290):c.2756A>G (p.Asn919Ser)
|
rs1489447514
|
0.00001
|
NM_025114.4(CEP290):c.2772G>A (p.Met924Ile)
|
rs1000757966
|
0.00001
|
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser)
|
rs967541984
|
0.00001
|
NM_025114.4(CEP290):c.2909A>G (p.Asn970Ser)
|
rs951200727
|
0.00001
|
NM_025114.4(CEP290):c.2974A>G (p.Asn992Asp)
|
rs1265448566
|
0.00001
|
NM_025114.4(CEP290):c.2991G>A (p.Glu997=)
|
rs2037995979
|
0.00001
|
NM_025114.4(CEP290):c.3016C>G (p.Gln1006Glu)
|
rs1201691161
|
0.00001
|
NM_025114.4(CEP290):c.3064C>T (p.His1022Tyr)
|
rs916545578
|
0.00001
|
NM_025114.4(CEP290):c.3098A>C (p.Lys1033Thr)
|
rs1421960607
|
0.00001
|
NM_025114.4(CEP290):c.3176T>A (p.Ile1059Lys)
|
rs928926898
|
0.00001
|
NM_025114.4(CEP290):c.3203A>G (p.Asn1068Ser)
|
rs1276779845
|
0.00001
|
NM_025114.4(CEP290):c.3257C>T (p.Ser1086Leu)
|
rs760934388
|
0.00001
|
NM_025114.4(CEP290):c.3277C>T (p.Arg1093Cys)
|
rs778508890
|
0.00001
|
NM_025114.4(CEP290):c.331C>T (p.Arg111Trp)
|
rs1051440600
|
0.00001
|
NM_025114.4(CEP290):c.3323A>G (p.Asn1108Ser)
|
rs373207132
|
0.00001
|
NM_025114.4(CEP290):c.3409C>T (p.Arg1137Trp)
|
rs759961956
|
0.00001
|
NM_025114.4(CEP290):c.3557A>G (p.Gln1186Arg)
|
rs920028502
|
0.00001
|
NM_025114.4(CEP290):c.3626C>G (p.Ser1209Cys)
|
rs753350609
|
0.00001
|
NM_025114.4(CEP290):c.3644C>T (p.Ala1215Val)
|
rs1420933299
|
0.00001
|
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)
|
rs768864296
|
0.00001
|
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly)
|
rs1342978055
|
0.00001
|
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys)
|
rs547677441
|
0.00001
|
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg)
|
rs267603712
|
0.00001
|
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu)
|
rs765521933
|
0.00001
|
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu)
|
rs1353300022
|
0.00001
|
NM_025114.4(CEP290):c.3899T>C (p.Ile1300Thr)
|
rs1460182061
|
0.00001
|
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr)
|
rs761010723
|
0.00001
|
NM_025114.4(CEP290):c.3976A>G (p.Lys1326Glu)
|
rs377156725
|
0.00001
|
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val)
|
rs923112337
|
0.00001
|
NM_025114.4(CEP290):c.419A>G (p.Lys140Arg)
|
rs750776051
|
0.00001
|
NM_025114.4(CEP290):c.4246C>T (p.Arg1416Cys)
|
rs776812442
|
0.00001
|
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu)
|
rs771898047
|
0.00001
|
NM_025114.4(CEP290):c.4288A>C (p.Asn1430His)
|
rs749261915
|
0.00001
|
NM_025114.4(CEP290):c.4302+5G>A
|
rs1013125589
|
0.00001
|
NM_025114.4(CEP290):c.4337G>A (p.Ser1446Asn)
|
rs746106679
|
0.00001
|
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn)
|
rs769732992
|
0.00001
|
NM_025114.4(CEP290):c.4471G>A (p.Ala1491Thr)
|
rs771133112
|
0.00001
|
NM_025114.4(CEP290):c.4485A>G (p.Ile1495Met)
|
rs1328019408
|
0.00001
|
NM_025114.4(CEP290):c.4486C>A (p.Leu1496Met)
|
rs1026690396
|
0.00001
|
NM_025114.4(CEP290):c.4501G>A (p.Val1501Ile)
|
rs769989974
|
0.00001
|
NM_025114.4(CEP290):c.452G>A (p.Arg151Gln)
|
rs753374614
|
0.00001
|
NM_025114.4(CEP290):c.4634T>C (p.Met1545Thr)
|
rs1217427527
|
0.00001
|
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys)
|
rs763605289
|
0.00001
|
NM_025114.4(CEP290):c.4697C>T (p.Ala1566Val)
|
rs751408783
|
0.00001
|
NM_025114.4(CEP290):c.4730A>G (p.His1577Arg)
|
rs751352443
|
0.00001
|
NM_025114.4(CEP290):c.4812+6A>T
|
rs769525877
|
0.00001
|
NM_025114.4(CEP290):c.4813G>T (p.Asp1605Tyr)
|
rs554863859
|
0.00001
|
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser)
|
rs767636506
|
0.00001
|
NM_025114.4(CEP290):c.4854G>T (p.Lys1618Asn)
|
rs747852436
|
0.00001
|
NM_025114.4(CEP290):c.4936A>C (p.Lys1646Gln)
|
rs1348715646
|
0.00001
|
NM_025114.4(CEP290):c.4948G>T (p.Asp1650Tyr)
|
rs368057362
|
0.00001
|
NM_025114.4(CEP290):c.4C>T (p.Pro2Ser)
|
rs1064795491
|
0.00001
|
NM_025114.4(CEP290):c.50A>C (p.Asp17Ala)
|
rs1182703361
|
0.00001
|
NM_025114.4(CEP290):c.5167A>G (p.Met1723Val)
|
rs542400806
|
0.00001
|
NM_025114.4(CEP290):c.5218C>G (p.Gln1740Glu)
|
rs936648881
|
0.00001
|
NM_025114.4(CEP290):c.521A>T (p.Glu174Val)
|
rs774484028
|
0.00001
|
NM_025114.4(CEP290):c.533A>G (p.Gln178Arg)
|
rs773591434
|
0.00001
|
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn)
|
rs763278328
|
0.00001
|
NM_025114.4(CEP290):c.5449G>T (p.Asp1817Tyr)
|
rs1565822715
|
0.00001
|
NM_025114.4(CEP290):c.5459A>G (p.Asn1820Ser)
|
rs776980750
|
0.00001
|
NM_025114.4(CEP290):c.5480A>C (p.Gln1827Pro)
|
rs771657596
|
0.00001
|
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly)
|
rs563967678
|
0.00001
|
NM_025114.4(CEP290):c.5621T>C (p.Ile1874Thr)
|
rs781335780
|
0.00001
|
NM_025114.4(CEP290):c.5707A>G (p.Lys1903Glu)
|
rs878855334
|
0.00001
|
NM_025114.4(CEP290):c.5709+5G>A
|
rs2035845308
|
0.00001
|
NM_025114.4(CEP290):c.5764A>C (p.Ile1922Leu)
|
rs746949236
|
0.00001
|
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)
|
rs562477272
|
0.00001
|
NM_025114.4(CEP290):c.5921T>C (p.Val1974Ala)
|
rs1354836663
|
0.00001
|
NM_025114.4(CEP290):c.5933G>A (p.Arg1978Gln)
|
rs774881412
|
0.00001
|
NM_025114.4(CEP290):c.6070T>C (p.Tyr2024His)
|
rs745998591
|
0.00001
|
NM_025114.4(CEP290):c.6098A>G (p.Glu2033Gly)
|
rs756608200
|
0.00001
|
NM_025114.4(CEP290):c.6235C>A (p.Leu2079Ile)
|
rs753687613
|
0.00001
|
NM_025114.4(CEP290):c.6346C>T (p.His2116Tyr)
|
rs2034573032
|
0.00001
|
NM_025114.4(CEP290):c.634A>T (p.Asn212Tyr)
|
rs527704077
|
0.00001
|
NM_025114.4(CEP290):c.6353G>C (p.Arg2118Thr)
|
rs1208196086
|
0.00001
|
NM_025114.4(CEP290):c.6357+3A>G
|
rs777062671
|
0.00001
|
NM_025114.4(CEP290):c.6371G>A (p.Gly2124Glu)
|
rs752851135
|
0.00001
|
NM_025114.4(CEP290):c.6460G>A (p.Ala2154Thr)
|
rs1319955144
|
0.00001
|
NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr)
|
rs535765861
|
0.00001
|
NM_025114.4(CEP290):c.6575A>G (p.Tyr2192Cys)
|
rs1222842886
|
0.00001
|
NM_025114.4(CEP290):c.6580T>A (p.Ser2194Thr)
|
rs768539400
|
0.00001
|
NM_025114.4(CEP290):c.6599A>G (p.Glu2200Gly)
|
rs779145328
|
0.00001
|
NM_025114.4(CEP290):c.6624G>C (p.Arg2208Ser)
|
rs777841957
|
0.00001
|
NM_025114.4(CEP290):c.6645+6A>T
|
rs765992358
|
0.00001
|
NM_025114.4(CEP290):c.6671G>A (p.Arg2224Gln)
|
rs1214939378
|
0.00001
|
NM_025114.4(CEP290):c.6778G>C (p.Gly2260Arg)
|
rs371397659
|
0.00001
|
NM_025114.4(CEP290):c.6791A>G (p.Lys2264Arg)
|
rs535571590
|
0.00001
|
NM_025114.4(CEP290):c.6807T>G (p.Ile2269Met)
|
rs1355908667
|
0.00001
|
NM_025114.4(CEP290):c.6818+5G>A
|
rs935214183
|
0.00001
|
NM_025114.4(CEP290):c.6859G>A (p.Ala2287Thr)
|
rs1212611161
|
0.00001
|
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser)
|
rs148173636
|
0.00001
|
NM_025114.4(CEP290):c.7004A>G (p.Gln2335Arg)
|
rs1424407266
|
0.00001
|
NM_025114.4(CEP290):c.7035A>G (p.Arg2345=)
|
rs760964107
|
0.00001
|
NM_025114.4(CEP290):c.7082A>G (p.Gln2361Arg)
|
rs766016762
|
0.00001
|
NM_025114.4(CEP290):c.7155A>G (p.Ile2385Met)
|
rs770168358
|
0.00001
|
NM_025114.4(CEP290):c.7213G>A (p.Glu2405Lys)
|
rs1393659962
|
0.00001
|
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg)
|
rs199790246
|
0.00001
|
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys)
|
rs1233939358
|
0.00001
|
NM_025114.4(CEP290):c.726T>A (p.Asn242Lys)
|
rs949161264
|
0.00001
|
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn)
|
rs534440681
|
0.00001
|
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile)
|
rs756042946
|
0.00001
|
NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly)
|
rs762238709
|
0.00001
|
NM_025114.4(CEP290):c.772A>C (p.Asn258His)
|
rs979378806
|
0.00001
|
NM_025114.4(CEP290):c.784G>A (p.Ala262Thr)
|
rs1331352301
|
0.00001
|
NM_025114.4(CEP290):c.787A>G (p.Ile263Val)
|
rs1477583890
|
0.00001
|
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp)
|
rs753760503
|
0.00001
|
NM_025114.4(CEP290):c.838C>T (p.His280Tyr)
|
rs575493480
|
0.00001
|
NM_025114.4(CEP290):c.869A>G (p.Asp290Gly)
|
rs958209779
|
0.00001
|
NM_025132.4(WDR19):c.1066G>A (p.Ala356Thr)
|
rs565630355
|
0.00001
|
NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala)
|
rs745627337
|
0.00001
|
NM_025132.4(WDR19):c.1121A>G (p.Asn374Ser)
|
rs1729030821
|
0.00001
|
NM_025132.4(WDR19):c.1232A>G (p.Tyr411Cys)
|
rs761268969
|
0.00001
|
NM_025132.4(WDR19):c.1248T>C (p.Asn416=)
|
rs772867899
|
0.00001
|
NM_025132.4(WDR19):c.1466T>C (p.Ile489Thr)
|
rs1729266547
|
0.00001
|
NM_025132.4(WDR19):c.1477G>C (p.Asp493His)
|
rs587777349
|
0.00001
|
NM_025132.4(WDR19):c.1487T>C (p.Val496Ala)
|
rs772209665
|
0.00001
|
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)
|
rs1237494778
|
0.00001
|
NM_025132.4(WDR19):c.1522G>A (p.Val508Ile)
|
rs764106666
|
0.00001
|
NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln)
|
rs537283735
|
0.00001
|
NM_025132.4(WDR19):c.1567G>A (p.Asp523Asn)
|
rs557405566
|
0.00001
|
NM_025132.4(WDR19):c.1679G>A (p.Gly560Asp)
|
rs375777724
|
0.00001
|
NM_025132.4(WDR19):c.1716A>G (p.Val572=)
|
rs1730484886
|
0.00001
|
NM_025132.4(WDR19):c.1749T>G (p.Thr583=)
|
rs767572787
|
0.00001
|
NM_025132.4(WDR19):c.1810G>C (p.Val604Leu)
|
rs1245108212
|
0.00001
|
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys)
|
rs780273002
|
0.00001
|
NM_025132.4(WDR19):c.1927G>T (p.Asp643Tyr)
|
rs767757561
|
0.00001
|
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile)
|
rs746795141
|
0.00001
|
NM_025132.4(WDR19):c.1993G>C (p.Ala665Pro)
|
rs753976268
|
0.00001
|
NM_025132.4(WDR19):c.2066T>C (p.Met689Thr)
|
rs780879248
|
0.00001
|
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser)
|
rs370948119
|
0.00001
|
NM_025132.4(WDR19):c.2095C>T (p.Arg699Trp)
|
rs886042728
|
0.00001
|
NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile)
|
rs1157984983
|
0.00001
|
NM_025132.4(WDR19):c.2192A>G (p.Asn731Ser)
|
rs777105752
|
0.00001
|
NM_025132.4(WDR19):c.2194G>A (p.Asp732Asn)
|
rs765614115
|
0.00001
|
NM_025132.4(WDR19):c.2253G>T (p.Glu751Asp)
|
rs1170632040
|
0.00001
|
NM_025132.4(WDR19):c.2272C>A (p.His758Asn)
|
rs577133819
|
0.00001
|
NM_025132.4(WDR19):c.2332T>A (p.Ser778Thr)
|
rs545547031
|
0.00001
|
NM_025132.4(WDR19):c.2521G>A (p.Val841Ile)
|
rs1349223638
|
0.00001
|
NM_025132.4(WDR19):c.2562+4C>G
|
rs1732285598
|
0.00001
|
NM_025132.4(WDR19):c.2618C>T (p.Ala873Val)
|
rs746141233
|
0.00001
|
NM_025132.4(WDR19):c.2669C>G (p.Pro890Arg)
|
rs1231847370
|
0.00001
|
NM_025132.4(WDR19):c.269G>A (p.Ser90Asn)
|
rs761275061
|
0.00001
|
NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr)
|
rs1407602801
|
0.00001
|
NM_025132.4(WDR19):c.2779G>A (p.Val927Ile)
|
rs757105603
|
0.00001
|
NM_025132.4(WDR19):c.277G>C (p.Asp93His)
|
rs1725959489
|
0.00001
|
NM_025132.4(WDR19):c.2894G>T (p.Gly965Val)
|
rs778314721
|
0.00001
|
NM_025132.4(WDR19):c.2908G>A (p.Ala970Thr)
|
rs1733506402
|
0.00001
|
NM_025132.4(WDR19):c.2933A>G (p.Lys978Arg)
|
rs1733508675
|
0.00001
|
NM_025132.4(WDR19):c.2948C>T (p.Ala983Val)
|
rs1293022423
|
0.00001
|
NM_025132.4(WDR19):c.2T>C (p.Met1Thr)
|
rs1021076498
|
0.00001
|
NM_025132.4(WDR19):c.3001+3A>G
|
rs986476372
|
0.00001
|
NM_025132.4(WDR19):c.3001+6T>C
|
rs912115085
|
0.00001
|
NM_025132.4(WDR19):c.3013A>T (p.Thr1005Ser)
|
rs757632232
|
0.00001
|
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val)
|
rs778689889
|
0.00001
|
NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser)
|
rs759424617
|
0.00001
|
NM_025132.4(WDR19):c.3114+3T>C
|
rs1275093466
|
0.00001
|
NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu)
|
rs763748984
|
0.00001
|
NM_025132.4(WDR19):c.3188G>A (p.Gly1063Asp)
|
rs760222006
|
0.00001
|
NM_025132.4(WDR19):c.3188G>T (p.Gly1063Val)
|
rs760222006
|
0.00001
|
NM_025132.4(WDR19):c.3253A>C (p.Met1085Leu)
|
rs1331013833
|
0.00001
|
NM_025132.4(WDR19):c.3358+3A>G
|
rs1263454874
|
0.00001
|
NM_025132.4(WDR19):c.3367C>T (p.Arg1123Trp)
|
rs369310189
|
0.00001
|
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln)
|
rs764512369
|
0.00001
|
NM_025132.4(WDR19):c.3379G>A (p.Asp1127Asn)
|
rs767727756
|
0.00001
|
NM_025132.4(WDR19):c.3397T>C (p.Tyr1133His)
|
rs1187864679
|
0.00001
|
NM_025132.4(WDR19):c.3443C>T (p.Ala1148Val)
|
rs1235824066
|
0.00001
|
NM_025132.4(WDR19):c.3464A>C (p.His1155Pro)
|
rs774806370
|
0.00001
|
NM_025132.4(WDR19):c.3491T>A (p.Val1164Asp)
|
rs748465735
|
0.00001
|
NM_025132.4(WDR19):c.3565C>T (p.His1189Tyr)
|
rs778261943
|
0.00001
|
NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met)
|
rs368286694
|
0.00001
|
NM_025132.4(WDR19):c.3646A>G (p.Met1216Val)
|
rs571331592
|
0.00001
|
NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser)
|
rs1035768119
|
0.00001
|
NM_025132.4(WDR19):c.3833T>C (p.Ile1278Thr)
|
rs1250445688
|
0.00001
|
NM_025132.4(WDR19):c.3847C>T (p.His1283Tyr)
|
rs1187043579
|
0.00001
|
NM_025132.4(WDR19):c.3875G>T (p.Cys1292Phe)
|
rs796543493
|
0.00001
|
NM_025132.4(WDR19):c.3964A>C (p.Asn1322His)
|
rs1158060361
|
0.00001
|
NM_025132.4(WDR19):c.3966C>A (p.Asn1322Lys)
|
rs767906377
|
0.00001
|
NM_025132.4(WDR19):c.3993C>G (p.Asp1331Glu)
|
rs778745769
|
0.00001
|
NM_025132.4(WDR19):c.404T>C (p.Leu135Pro)
|
rs1361187656
|
0.00001
|
NM_025132.4(WDR19):c.410A>G (p.Lys137Arg)
|
rs763605734
|
0.00001
|
NM_025132.4(WDR19):c.43G>A (p.Ala15Thr)
|
rs865806299
|
0.00001
|
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys)
|
rs1247231925
|
0.00001
|
NM_025132.4(WDR19):c.6+3A>G
|
rs1415721879
|
0.00001
|
NM_025132.4(WDR19):c.603+3A>G
|
rs1727609864
|
0.00001
|
NM_025132.4(WDR19):c.621C>T (p.Gly207=)
|
rs1330119254
|
0.00001
|
NM_025132.4(WDR19):c.664C>G (p.Pro222Ala)
|
rs757241775
|
0.00001
|
NM_025132.4(WDR19):c.667G>A (p.Ala223Thr)
|
rs1371153516
|
0.00001
|
NM_025132.4(WDR19):c.710A>G (p.Tyr237Cys)
|
rs755629699
|
0.00001
|
NM_025132.4(WDR19):c.716+12A>G
|
rs779700299
|
0.00001
|
NM_025132.4(WDR19):c.802A>T (p.Ile268Leu)
|
rs372022021
|
0.00001
|
NM_025132.4(WDR19):c.8G>A (p.Arg3His)
|
rs922584346
|
0.00001
|
NM_025132.4(WDR19):c.906C>G (p.Asp302Glu)
|
rs763697118
|
0.00001
|
NM_025132.4(WDR19):c.931G>A (p.Val311Ile)
|
rs1300934052
|
0.00001
|
NM_025132.4(WDR19):c.977C>G (p.Ser326Cys)
|
rs1729012449
|
0.00001
|
NM_031427.4(DNAL1):c.221T>G (p.Ile74Arg)
|
rs781680294
|
0.00001
|
NM_031427.4(DNAL1):c.264+4G>C
|
rs773731641
|
0.00001
|
NM_031427.4(DNAL1):c.34G>A (p.Ala12Thr)
|
rs763932147
|
0.00001
|
NM_031427.4(DNAL1):c.35C>T (p.Ala12Val)
|
rs948104206
|
0.00001
|
NM_031427.4(DNAL1):c.490G>A (p.Glu164Lys)
|
rs190778454
|
0.00001
|
NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser)
|
rs773720173
|
0.00001
|
NM_031885.5(BBS2):c.116A>G (p.Lys39Arg)
|
rs779677560
|
0.00001
|
NM_031885.5(BBS2):c.117+5C>T
|
rs1460934723
|
0.00001
|
NM_031885.5(BBS2):c.117G>A (p.Lys39=)
|
rs755877218
|
0.00001
|
NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser)
|
rs368138622
|
0.00001
|
NM_031885.5(BBS2):c.1240G>A (p.Ala414Thr)
|
rs375585469
|
0.00001
|
NM_031885.5(BBS2):c.1267T>C (p.Phe423Leu)
|
rs754625376
|
0.00001
|
NM_031885.5(BBS2):c.1297A>G (p.Ser433Gly)
|
rs752065274
|
0.00001
|
NM_031885.5(BBS2):c.1439G>A (p.Arg480Gln)
|
rs772380071
|
0.00001
|
NM_031885.5(BBS2):c.143G>A (p.Arg48Gln)
|
rs775577429
|
0.00001
|
NM_031885.5(BBS2):c.1486A>G (p.Ile496Val)
|
rs549070573
|
0.00001
|
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val)
|
rs374028829
|
0.00001
|
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg)
|
rs1250423040
|
0.00001
|
NM_031885.5(BBS2):c.1601G>A (p.Cys534Tyr)
|
rs1964174593
|
0.00001
|
NM_031885.5(BBS2):c.1602T>G (p.Cys534Trp)
|
rs747228782
|
0.00001
|
NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile)
|
rs370581600
|
0.00001
|
NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser)
|
rs1288834218
|
0.00001
|
NM_031885.5(BBS2):c.1804G>A (p.Glu602Lys)
|
rs1199835895
|
0.00001
|
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys)
|
rs752749569
|
0.00001
|
NM_031885.5(BBS2):c.184C>G (p.Leu62Val)
|
rs201860939
|
0.00001
|
NM_031885.5(BBS2):c.1852T>G (p.Ser618Ala)
|
rs1964133123
|
0.00001
|
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr)
|
rs771822557
|
0.00001
|
NM_031885.5(BBS2):c.194A>T (p.Asp65Val)
|
rs746643609
|
0.00001
|
NM_031885.5(BBS2):c.1981C>T (p.Arg661Cys)
|
rs766476238
|
0.00001
|
NM_031885.5(BBS2):c.1991A>G (p.Asn664Ser)
|
rs1963755946
|
0.00001
|
NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln)
|
rs1476749003
|
0.00001
|
NM_031885.5(BBS2):c.2087C>T (p.Thr696Ile)
|
rs780369177
|
0.00001
|
NM_031885.5(BBS2):c.2095C>T (p.Arg699Trp)
|
rs1003841433
|
0.00001
|
NM_031885.5(BBS2):c.2152del (p.Thr718fs)
|
rs1156738620
|
0.00001
|
NM_031885.5(BBS2):c.334T>C (p.Phe112Leu)
|
rs772864503
|
0.00001
|
NM_031885.5(BBS2):c.400C>T (p.Pro134Ser)
|
rs1275057392
|
0.00001
|
NM_031885.5(BBS2):c.425G>A (p.Cys142Tyr)
|
rs1348932407
|
0.00001
|
NM_031885.5(BBS2):c.581A>G (p.Asp194Gly)
|
rs1325859248
|
0.00001
|
NM_031885.5(BBS2):c.619A>G (p.Thr207Ala)
|
rs1183364786
|
0.00001
|
NM_031885.5(BBS2):c.717+5G>A
|
rs1567579212
|
0.00001
|
NM_031885.5(BBS2):c.718-3C>T
|
rs779134746
|
0.00001
|
NM_031885.5(BBS2):c.941-20G>A
|
rs760109919
|
0.00001
|
NM_031885.5(BBS2):c.986T>C (p.Met329Thr)
|
rs201146063
|
0.00001
|
NM_031924.8(RSPH3):c.-219G>T
|
rs753412130
|
0.00001
|
NM_031924.8(RSPH3):c.-386A>G
|
rs754166423
|
0.00001
|
NM_031924.8(RSPH3):c.10G>A (p.Ala4Thr)
|
rs1395283062
|
0.00001
|
NM_031924.8(RSPH3):c.1160C>T (p.Ser387Leu)
|
rs1280733586
|
0.00001
|
NM_031924.8(RSPH3):c.376A>G (p.Ile126Val)
|
rs180884138
|
0.00001
|
NM_031924.8(RSPH3):c.548C>T (p.Thr183Ile)
|
rs201137146
|
0.00001
|
NM_031924.8(RSPH3):c.614G>A (p.Arg205His)
|
rs754501725
|
0.00001
|
NM_031924.8(RSPH3):c.703C>T (p.Arg235Cys)
|
rs778108869
|
0.00001
|
NM_031924.8(RSPH3):c.704G>A (p.Arg235His)
|
rs758822234
|
0.00001
|
NM_033028.5(BBS4):c.1072A>C (p.Lys358Gln)
|
rs560253658
|
0.00001
|
NM_033028.5(BBS4):c.1107G>A (p.Lys369=)
|
rs773893992
|
0.00001
|
NM_033028.5(BBS4):c.1172C>T (p.Ala391Val)
|
rs1419955498
|
0.00001
|
NM_033028.5(BBS4):c.1232T>C (p.Leu411Pro)
|
rs569462424
|
0.00001
|
NM_033028.5(BBS4):c.1248+5G>A
|
rs756449572
|
0.00001
|
NM_033028.5(BBS4):c.1248G>C (p.Glu416Asp)
|
rs914591602
|
0.00001
|
NM_033028.5(BBS4):c.1289T>C (p.Val430Ala)
|
rs767070801
|
0.00001
|
NM_033028.5(BBS4):c.1309A>G (p.Thr437Ala)
|
rs775122250
|
0.00001
|
NM_033028.5(BBS4):c.1319T>A (p.Val440Asp)
|
rs754157578
|
0.00001
|
NM_033028.5(BBS4):c.1322A>C (p.Lys441Thr)
|
rs765715632
|
0.00001
|
NM_033028.5(BBS4):c.1336A>C (p.Lys446Gln)
|
rs201230357
|
0.00001
|
NM_033028.5(BBS4):c.1348A>C (p.Thr450Pro)
|
rs749034070
|
0.00001
|
NM_033028.5(BBS4):c.134G>A (p.Arg45Gln)
|
rs1050164962
|
0.00001
|
NM_033028.5(BBS4):c.1394A>G (p.Asn465Ser)
|
rs1214182249
|
0.00001
|
NM_033028.5(BBS4):c.1429G>A (p.Ala477Thr)
|
rs760480986
|
0.00001
|
NM_033028.5(BBS4):c.14G>C (p.Arg5Thr)
|
rs1307094685
|
0.00001
|
NM_033028.5(BBS4):c.179A>G (p.Gln60Arg)
|
rs916245903
|
0.00001
|
NM_033028.5(BBS4):c.214G>A (p.Val72Ile)
|
rs749578199
|
0.00001
|
NM_033028.5(BBS4):c.232C>T (p.Arg78Cys)
|
rs145168232
|
0.00001
|
NM_033028.5(BBS4):c.23C>T (p.Thr8Met)
|
rs769894375
|
0.00001
|
NM_033028.5(BBS4):c.289A>C (p.Ser97Arg)
|
rs2065449512
|
0.00001
|
NM_033028.5(BBS4):c.315G>T (p.Lys105Asn)
|
rs766485888
|
0.00001
|
NM_033028.5(BBS4):c.31C>G (p.Gln11Glu)
|
rs1040144478
|
0.00001
|
NM_033028.5(BBS4):c.379G>A (p.Ala127Thr)
|
rs530223854
|
0.00001
|
NM_033028.5(BBS4):c.461C>T (p.Ala154Val)
|
rs756744863
|
0.00001
|
NM_033028.5(BBS4):c.469C>G (p.Gln157Glu)
|
rs1177848403
|
0.00001
|
NM_033028.5(BBS4):c.593C>T (p.Ser198Leu)
|
rs751076253
|
0.00001
|
NM_033028.5(BBS4):c.595C>T (p.Pro199Ser)
|
rs371598044
|
0.00001
|
NM_033028.5(BBS4):c.5C>T (p.Ala2Val)
|
rs923399180
|
0.00001
|
NM_033028.5(BBS4):c.61C>T (p.Pro21Ser)
|
rs916749492
|
0.00001
|
NM_033028.5(BBS4):c.65G>A (p.Arg22Gln)
|
rs775955872
|
0.00001
|
NM_033028.5(BBS4):c.697C>G (p.Pro233Ala)
|
rs569388336
|
0.00001
|
NM_033028.5(BBS4):c.706T>C (p.Tyr236His)
|
rs746172575
|
0.00001
|
NM_033028.5(BBS4):c.760G>A (p.Val254Ile)
|
rs532770420
|
0.00001
|
NM_033028.5(BBS4):c.80C>T (p.Pro27Leu)
|
rs748048479
|
0.00001
|
NM_033028.5(BBS4):c.852G>T (p.Lys284Asn)
|
rs12373005
|
0.00001
|
NM_033028.5(BBS4):c.863C>T (p.Ala288Val)
|
rs772051835
|
0.00001
|
NM_033028.5(BBS4):c.884G>A (p.Arg295Gln)
|
rs121434632
|
0.00001
|
NM_033028.5(BBS4):c.923A>G (p.Tyr308Cys)
|
rs199831925
|
0.00001
|
NM_033028.5(BBS4):c.926A>C (p.Asn309Thr)
|
rs1178593849
|
0.00001
|
NM_033028.5(BBS4):c.999C>G (p.Phe333Leu)
|
rs774619624
|
0.00001
|
NM_033124.5(CCDC65):c.1004C>T (p.Ala335Val)
|
rs767578687
|
0.00001
|
NM_033124.5(CCDC65):c.1196T>C (p.Ile399Thr)
|
rs890906368
|
0.00001
|
NM_033124.5(CCDC65):c.1268C>A (p.Ala423Asp)
|
rs745767342
|
0.00001
|
NM_033124.5(CCDC65):c.135C>A (p.Asp45Glu)
|
rs184028693
|
0.00001
|
NM_033124.5(CCDC65):c.209G>A (p.Arg70Gln)
|
rs772291948
|
0.00001
|
NM_033124.5(CCDC65):c.214G>T (p.Val72Phe)
|
rs1342625748
|
0.00001
|
NM_033124.5(CCDC65):c.242T>C (p.Ile81Thr)
|
rs771367100
|
0.00001
|
NM_033124.5(CCDC65):c.328G>A (p.Glu110Lys)
|
rs761689371
|
0.00001
|
NM_033124.5(CCDC65):c.470+3A>G
|
rs200575863
|
0.00001
|
NM_033124.5(CCDC65):c.474G>C (p.Lys158Asn)
|
rs761890305
|
0.00001
|
NM_033124.5(CCDC65):c.533T>C (p.Met178Thr)
|
rs777553497
|
0.00001
|
NM_033124.5(CCDC65):c.56T>G (p.Leu19Arg)
|
rs150129786
|
0.00001
|
NM_033124.5(CCDC65):c.609+5G>A
|
rs370107530
|
0.00001
|
NM_033124.5(CCDC65):c.653G>A (p.Arg218Lys)
|
rs760818856
|
0.00001
|
NM_033124.5(CCDC65):c.732T>A (p.Phe244Leu)
|
rs776694186
|
0.00001
|
NM_033124.5(CCDC65):c.73T>A (p.Leu25Met)
|
rs371110225
|
0.00001
|
NM_033124.5(CCDC65):c.771G>T (p.Glu257Asp)
|
rs764695480
|
0.00001
|
NM_033124.5(CCDC65):c.850C>T (p.Arg284Cys)
|
rs780401797
|
0.00001
|
NM_033124.5(CCDC65):c.875A>G (p.Tyr292Cys)
|
rs1223874594
|
0.00001
|
NM_033124.5(CCDC65):c.930A>T (p.Gln310His)
|
rs751598087
|
0.00001
|
NM_033124.5(CCDC65):c.93G>A (p.Met31Ile)
|
rs1485636400
|
0.00001
|
NM_052844.4(DYNC2I2):c.1000G>A (p.Glu334Lys)
|
rs772983607
|
0.00001
|
NM_052844.4(DYNC2I2):c.1006G>A (p.Gly336Ser)
|
rs771610840
|
0.00001
|
NM_052844.4(DYNC2I2):c.1013C>T (p.Thr338Met)
|
rs1453406506
|
0.00001
|
NM_052844.4(DYNC2I2):c.1154A>G (p.Gln385Arg)
|
rs766809441
|
0.00001
|
NM_052844.4(DYNC2I2):c.1196G>A (p.Ser399Asn)
|
rs777148395
|
0.00001
|
NM_052844.4(DYNC2I2):c.1202C>T (p.Ser401Phe)
|
rs763634588
|
0.00001
|
NM_052844.4(DYNC2I2):c.1219C>G (p.Leu407Val)
|
rs1269390021
|
0.00001
|
NM_052844.4(DYNC2I2):c.1424T>C (p.Leu475Ser)
|
rs748451019
|
0.00001
|
NM_052844.4(DYNC2I2):c.1481A>G (p.Gln494Arg)
|
rs776473267
|
0.00001
|
NM_052844.4(DYNC2I2):c.1562C>T (p.Pro521Leu)
|
rs1860237724
|
0.00001
|
NM_052844.4(DYNC2I2):c.1600G>A (p.Val534Met)
|
rs1172178384
|
0.00001
|
NM_052844.4(DYNC2I2):c.266C>T (p.Thr89Met)
|
rs763370150
|
0.00001
|
NM_052844.4(DYNC2I2):c.325G>A (p.Ala109Thr)
|
rs773435636
|
0.00001
|
NM_052844.4(DYNC2I2):c.40G>A (p.Gly14Arg)
|
rs778409061
|
0.00001
|
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp)
|
rs555811074
|
0.00001
|
NM_052844.4(DYNC2I2):c.59C>T (p.Ala20Val)
|
rs1377064833
|
0.00001
|
NM_052844.4(DYNC2I2):c.700G>A (p.Ala234Thr)
|
rs762438684
|
0.00001
|
NM_052844.4(DYNC2I2):c.842G>A (p.Ser281Asn)
|
rs746568024
|
0.00001
|
NM_052844.4(DYNC2I2):c.886C>G (p.Leu296Val)
|
rs754164153
|
0.00001
|
NM_052844.4(DYNC2I2):c.8C>T (p.Thr3Ile)
|
rs759289615
|
0.00001
|
NM_080860.4(RSPH1):c.313T>C (p.Tyr105His)
|
rs1388776078
|
0.00001
|
NM_080860.4(RSPH1):c.350G>T (p.Trp117Leu)
|
rs758245475
|
0.00001
|
NM_080860.4(RSPH1):c.365+4C>T
|
rs201479872
|
0.00001
|
NM_080860.4(RSPH1):c.451G>A (p.Glu151Lys)
|
rs767070148
|
0.00001
|
NM_080860.4(RSPH1):c.560G>A (p.Arg187His)
|
rs746604496
|
0.00001
|
NM_080860.4(RSPH1):c.635C>T (p.Thr212Ile)
|
rs771875847
|
0.00001
|
NM_080860.4(RSPH1):c.661A>G (p.Thr221Ala)
|
rs369932767
|
0.00001
|
NM_080860.4(RSPH1):c.709G>C (p.Asp237His)
|
rs368695982
|
0.00001
|
NM_080860.4(RSPH1):c.748G>A (p.Glu250Lys)
|
rs1057278008
|
0.00001
|
NM_080860.4(RSPH1):c.775G>A (p.Glu259Lys)
|
rs762397242
|
0.00001
|
NM_144596.4(TTC8):c.103C>T (p.Pro35Ser)
|
rs762461640
|
0.00001
|
NM_144596.4(TTC8):c.1133T>C (p.Met378Thr)
|
rs1003053014
|
0.00001
|
NM_144596.4(TTC8):c.1171G>C (p.Glu391Gln)
|
rs1253282084
|
0.00001
|
NM_144596.4(TTC8):c.1215T>G (p.His405Gln)
|
rs753212470
|
0.00001
|
NM_144596.4(TTC8):c.1224+19A>G
|
rs1329774650
|
0.00001
|
NM_144596.4(TTC8):c.1277A>T (p.Asn426Ile)
|
rs575952395
|
0.00001
|
NM_144596.4(TTC8):c.1352G>A (p.Arg451Lys)
|
rs772498950
|
0.00001
|
NM_144596.4(TTC8):c.1363C>A (p.Gln455Lys)
|
rs773278542
|
0.00001
|
NM_144596.4(TTC8):c.1402C>T (p.His468Tyr)
|
rs148602884
|
0.00001
|
NM_144596.4(TTC8):c.1420A>G (p.Ile474Val)
|
rs1244721977
|
0.00001
|
NM_144596.4(TTC8):c.1544T>C (p.Leu515Pro)
|
rs2094961758
|
0.00001
|
NM_144596.4(TTC8):c.175A>G (p.Thr59Ala)
|
rs1335402056
|
0.00001
|
NM_144596.4(TTC8):c.265C>T (p.Arg89Cys)
|
rs747646200
|
0.00001
|
NM_144596.4(TTC8):c.275C>T (p.Thr92Met)
|
rs886050877
|
0.00001
|
NM_144596.4(TTC8):c.298A>G (p.Asn100Asp)
|
rs758294605
|
0.00001
|
NM_144596.4(TTC8):c.355A>G (p.Ile119Val)
|
rs1188208020
|
0.00001
|
NM_144596.4(TTC8):c.361G>A (p.Gly121Ser)
|
rs771327965
|
0.00001
|
NM_144596.4(TTC8):c.386G>A (p.Ser129Asn)
|
rs761817038
|
0.00001
|
NM_144596.4(TTC8):c.415A>G (p.Ile139Val)
|
rs766062841
|
0.00001
|
NM_144596.4(TTC8):c.436T>C (p.Tyr146His)
|
rs747125124
|
0.00001
|
NM_144596.4(TTC8):c.452T>A (p.Ile151Asn)
|
rs774233751
|
0.00001
|
NM_144596.4(TTC8):c.596T>A (p.Ile199Asn)
|
rs753995884
|
0.00001
|
NM_144596.4(TTC8):c.631G>T (p.Asp211Tyr)
|
rs377540438
|
0.00001
|
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr)
|
rs1295139564
|
0.00001
|
NM_144596.4(TTC8):c.744T>G (p.Phe248Leu)
|
rs1411331497
|
0.00001
|
NM_144596.4(TTC8):c.909G>C (p.Glu303Asp)
|
rs1413362477
|
0.00001
|
NM_144596.4(TTC8):c.950A>C (p.Glu317Ala)
|
rs1220094479
|
0.00001
|
NM_145038.5(DRC1):c.1082A>C (p.Gln361Pro)
|
rs970137380
|
0.00001
|
NM_145038.5(DRC1):c.1304C>T (p.Pro435Leu)
|
rs747835380
|
0.00001
|
NM_145038.5(DRC1):c.1348C>A (p.Pro450Thr)
|
rs1214850546
|
0.00001
|
NM_145038.5(DRC1):c.1372G>A (p.Val458Ile)
|
rs372422691
|
0.00001
|
NM_145038.5(DRC1):c.137G>T (p.Arg46Leu)
|
rs745457802
|
0.00001
|
NM_145038.5(DRC1):c.1424C>T (p.Ala475Val)
|
rs200155316
|
0.00001
|
NM_145038.5(DRC1):c.1508C>T (p.Ser503Leu)
|
rs779688284
|
0.00001
|
NM_145038.5(DRC1):c.1540C>T (p.Leu514Phe)
|
rs1663961136
|
0.00001
|
NM_145038.5(DRC1):c.1622A>G (p.Asp541Gly)
|
rs760087399
|
0.00001
|
NM_145038.5(DRC1):c.1739C>A (p.Thr580Lys)
|
rs773007219
|
0.00001
|
NM_145038.5(DRC1):c.1892C>T (p.Ala631Val)
|
rs751715818
|
0.00001
|
NM_145038.5(DRC1):c.1900A>G (p.Met634Val)
|
rs1297970541
|
0.00001
|
NM_145038.5(DRC1):c.2045C>T (p.Thr682Ile)
|
rs377090460
|
0.00001
|
NM_145038.5(DRC1):c.2056A>G (p.Lys686Glu)
|
rs587776997
|
0.00001
|
NM_145038.5(DRC1):c.2099A>G (p.Glu700Gly)
|
rs1347088566
|
0.00001
|
NM_145038.5(DRC1):c.460T>C (p.Trp154Arg)
|
rs1167224672
|
0.00001
|
NM_145038.5(DRC1):c.463G>A (p.Glu155Lys)
|
rs574881831
|
0.00001
|
NM_145038.5(DRC1):c.476C>T (p.Thr159Ile)
|
rs368096684
|
0.00001
|
NM_145038.5(DRC1):c.528C>T (p.Ser176=)
|
rs780717600
|
0.00001
|
NM_145038.5(DRC1):c.71C>A (p.Ala24Glu)
|
rs770464153
|
0.00001
|
NM_145038.5(DRC1):c.74C>G (p.Pro25Arg)
|
rs778586998
|
0.00001
|
NM_145038.5(DRC1):c.765+6G>A
|
rs374715318
|
0.00001
|
NM_145038.5(DRC1):c.784C>T (p.Arg262Cys)
|
rs748399379
|
0.00001
|
NM_145038.5(DRC1):c.7C>T (p.Pro3Ser)
|
rs759091863
|
0.00001
|
NM_145038.5(DRC1):c.963G>T (p.Gln321His)
|
rs747446719
|
0.00001
|
NM_145045.5(ODAD3):c.1116C>G (p.His372Gln)
|
rs1361894803
|
0.00001
|
NM_145045.5(ODAD3):c.1294G>A (p.Ala432Thr)
|
rs377241671
|
0.00001
|
NM_145045.5(ODAD3):c.1361G>A (p.Arg454His)
|
rs747718544
|
0.00001
|
NM_145045.5(ODAD3):c.1463T>C (p.Leu488Pro)
|
rs1220505441
|
0.00001
|
NM_145045.5(ODAD3):c.1568T>C (p.Leu523Pro)
|
rs1157969932
|
0.00001
|
NM_145045.5(ODAD3):c.1664A>G (p.Asp555Gly)
|
rs1381016785
|
0.00001
|
NM_145045.5(ODAD3):c.208C>G (p.Gln70Glu)
|
rs892807467
|
0.00001
|
NM_145045.5(ODAD3):c.245A>G (p.Glu82Gly)
|
rs1318880960
|
0.00001
|
NM_145045.5(ODAD3):c.368G>A (p.Gly123Glu)
|
rs747949941
|
0.00001
|
NM_145045.5(ODAD3):c.382G>A (p.Val128Ile)
|
rs746887558
|
0.00001
|
NM_145045.5(ODAD3):c.511G>A (p.Val171Met)
|
rs1275437874
|
0.00001
|
NM_145045.5(ODAD3):c.52G>A (p.Asp18Asn)
|
rs578106295
|
0.00001
|
NM_145045.5(ODAD3):c.616A>C (p.Met206Leu)
|
rs1370329544
|
0.00001
|
NM_145045.5(ODAD3):c.662A>G (p.Gln221Arg)
|
rs775771061
|
0.00001
|
NM_145045.5(ODAD3):c.775A>G (p.Lys259Glu)
|
rs745486581
|
0.00001
|
NM_145045.5(ODAD3):c.840+6A>G
|
rs899767285
|
0.00001
|
NM_147127.5(EVC2):c.1006-12A>G
|
rs1205381388
|
0.00001
|
NM_147127.5(EVC2):c.109C>T (p.Pro37Ser)
|
rs769781725
|
0.00001
|
NM_147127.5(EVC2):c.11C>T (p.Ser4Leu)
|
rs1468421367
|
0.00001
|
NM_147127.5(EVC2):c.1328T>C (p.Ile443Thr)
|
rs1459733035
|
0.00001
|
NM_147127.5(EVC2):c.1427C>T (p.Ala476Val)
|
rs774347118
|
0.00001
|
NM_147127.5(EVC2):c.1502C>T (p.Thr501Ile)
|
rs1209098952
|
0.00001
|
NM_147127.5(EVC2):c.1658A>G (p.Glu553Gly)
|
rs766349604
|
0.00001
|
NM_147127.5(EVC2):c.1711-6T>A
|
rs780082286
|
0.00001
|
NM_147127.5(EVC2):c.1732G>A (p.Asp578Asn)
|
rs757316188
|
0.00001
|
NM_147127.5(EVC2):c.1747A>T (p.Ser583Cys)
|
rs1222356750
|
0.00001
|
NM_147127.5(EVC2):c.1852G>A (p.Ala618Thr)
|
rs765933739
|
0.00001
|
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln)
|
rs773470850
|
0.00001
|
NM_147127.5(EVC2):c.2023A>G (p.Arg675Gly)
|
rs754390055
|
0.00001
|
NM_147127.5(EVC2):c.2075C>A (p.Ser692Tyr)
|
rs1318313186
|
0.00001
|
NM_147127.5(EVC2):c.2254C>T (p.Arg752Trp)
|
rs532778814
|
0.00001
|
NM_147127.5(EVC2):c.2404G>C (p.Gly802Arg)
|
rs577020845
|
0.00001
|
NM_147127.5(EVC2):c.2424G>C (p.Gln808His)
|
rs541956407
|
0.00001
|
NM_147127.5(EVC2):c.2706+5G>T
|
rs747272944
|
0.00001
|
NM_147127.5(EVC2):c.2707-3C>T
|
rs755042717
|
0.00001
|
NM_147127.5(EVC2):c.283+18T>G
|
rs894951363
|
0.00001
|
NM_147127.5(EVC2):c.2876A>T (p.Gln959Leu)
|
rs1228531350
|
0.00001
|
NM_147127.5(EVC2):c.2954A>C (p.Tyr985Ser)
|
rs753942333
|
0.00001
|
NM_147127.5(EVC2):c.295C>T (p.Leu99Phe)
|
rs897972159
|
0.00001
|
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys)
|
rs779884599
|
0.00001
|
NM_147127.5(EVC2):c.3499G>A (p.Val1167Met)
|
rs775202977
|
0.00001
|
NM_147127.5(EVC2):c.3508G>A (p.Ala1170Thr)
|
rs748514374
|
0.00001
|
NM_147127.5(EVC2):c.3579A>C (p.Gln1193His)
|
rs1346353134
|
0.00001
|
NM_147127.5(EVC2):c.3604G>A (p.Asp1202Asn)
|
rs752599166
|
0.00001
|
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys)
|
rs763433901
|
0.00001
|
NM_147127.5(EVC2):c.3854T>C (p.Leu1285Pro)
|
rs746578489
|
0.00001
|
NM_147127.5(EVC2):c.551G>A (p.Arg184His)
|
rs771841841
|
0.00001
|
NM_147127.5(EVC2):c.572A>C (p.Asn191Thr)
|
rs754001550
|
0.00001
|
NM_147127.5(EVC2):c.602C>T (p.Ser201Leu)
|
rs766533908
|
0.00001
|
NM_147127.5(EVC2):c.851C>G (p.Thr284Arg)
|
rs771493745
|
0.00001
|
NM_152384.3(BBS5):c.133G>A (p.Gly45Arg)
|
rs1244934291
|
0.00001
|
NM_152384.3(BBS5):c.203A>G (p.Asn68Ser)
|
rs754978707
|
0.00001
|
NM_152384.3(BBS5):c.259-3C>T
|
rs564412855
|
0.00001
|
NM_152384.3(BBS5):c.266G>A (p.Arg89Gln)
|
rs931751345
|
0.00001
|
NM_152384.3(BBS5):c.287A>G (p.Tyr96Cys)
|
rs763784832
|
0.00001
|
NM_152384.3(BBS5):c.325A>G (p.Ile109Val)
|
rs758307712
|
0.00001
|
NM_152384.3(BBS5):c.332C>T (p.Thr111Ile)
|
rs375992092
|
0.00001
|
NM_152384.3(BBS5):c.364A>G (p.Thr122Ala)
|
rs1244656681
|
0.00001
|
NM_152384.3(BBS5):c.472G>A (p.Glu158Lys)
|
rs1683625962
|
0.00001
|
NM_152384.3(BBS5):c.60-10T>G
|
rs1224093899
|
0.00001
|
NM_152384.3(BBS5):c.664A>G (p.Ile222Val)
|
rs146488006
|
0.00001
|
NM_152384.3(BBS5):c.826C>T (p.Leu276Phe)
|
rs770319545
|
0.00001
|
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys)
|
rs759233586
|
0.00001
|
NM_152384.3(BBS5):c.887C>T (p.Thr296Met)
|
rs755594935
|
0.00001
|
NM_152384.3(BBS5):c.900G>C (p.Val300=)
|
rs757001492
|
0.00001
|
NM_152384.3(BBS5):c.92T>C (p.Ile31Thr)
|
rs1395749164
|
0.00001
|
NM_152618.3(BBS12):c.1064G>A (p.Arg355Gln)
|
rs1474900361
|
0.00001
|
NM_152618.3(BBS12):c.1085A>G (p.Asp362Gly)
|
rs1800908966
|
0.00001
|
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile)
|
rs752254471
|
0.00001
|
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp)
|
rs202225266
|
0.00001
|
NM_152618.3(BBS12):c.1205A>G (p.Gln402Arg)
|
rs763765486
|
0.00001
|
NM_152618.3(BBS12):c.1297G>A (p.Val433Ile)
|
rs538077275
|
0.00001
|
NM_152618.3(BBS12):c.1390T>C (p.Cys464Arg)
|
rs373652329
|
0.00001
|
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)
|
rs1357690062
|
0.00001
|
NM_152618.3(BBS12):c.1402G>A (p.Gly468Arg)
|
rs144910481
|
0.00001
|
NM_152618.3(BBS12):c.1468A>G (p.Ile490Val)
|
rs775189952
|
0.00001
|
NM_152618.3(BBS12):c.1490T>C (p.Ile497Thr)
|
rs754049744
|
0.00001
|
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser)
|
rs142593414
|
0.00001
|
NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys)
|
rs770746493
|
0.00001
|
NM_152618.3(BBS12):c.1573C>T (p.Arg525Cys)
|
rs760420127
|
0.00001
|
NM_152618.3(BBS12):c.1658T>A (p.Leu553His)
|
rs753004315
|
0.00001
|
NM_152618.3(BBS12):c.1660G>T (p.Ala554Ser)
|
rs1800929603
|
0.00001
|
NM_152618.3(BBS12):c.1686C>A (p.Asn562Lys)
|
rs778686947
|
0.00001
|
NM_152618.3(BBS12):c.1768T>C (p.Phe590Leu)
|
rs767882942
|
0.00001
|
NM_152618.3(BBS12):c.1823A>G (p.Asn608Ser)
|
rs184225705
|
0.00001
|
NM_152618.3(BBS12):c.1849A>G (p.Thr617Ala)
|
rs771057055
|
0.00001
|
NM_152618.3(BBS12):c.1883A>G (p.Asp628Gly)
|
rs758135703
|
0.00001
|
NM_152618.3(BBS12):c.191G>A (p.Ser64Asn)
|
rs1361081580
|
0.00001
|
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr)
|
rs1361081580
|
0.00001
|
NM_152618.3(BBS12):c.1935T>G (p.Ser645Arg)
|
rs905750251
|
0.00001
|
NM_152618.3(BBS12):c.2117G>C (p.Gly706Ala)
|
rs759180956
|
0.00001
|
NM_152618.3(BBS12):c.37C>T (p.His13Tyr)
|
rs964582500
|
0.00001
|
NM_152618.3(BBS12):c.382G>A (p.Val128Ile)
|
rs375439566
|
0.00001
|
NM_152618.3(BBS12):c.508A>G (p.Ile170Val)
|
rs1218692709
|
0.00001
|
NM_152618.3(BBS12):c.715A>T (p.Arg239Trp)
|
rs1800898589
|
0.00001
|
NM_152618.3(BBS12):c.716G>A (p.Arg239Lys)
|
rs1179124061
|
0.00001
|
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly)
|
rs752533681
|
0.00001
|
NM_152618.3(BBS12):c.801T>A (p.Asp267Glu)
|
rs1183146847
|
0.00001
|
NM_152618.3(BBS12):c.830A>G (p.His277Arg)
|
rs1456373861
|
0.00001
|
NM_152618.3(BBS12):c.908A>G (p.Asn303Ser)
|
rs1399257163
|
0.00001
|
NM_152732.5(RSPH9):c.118C>T (p.Arg40Cys)
|
rs937089073
|
0.00001
|
NM_152732.5(RSPH9):c.154G>T (p.Gly52Cys)
|
rs763447905
|
0.00001
|
NM_152732.5(RSPH9):c.260C>G (p.Pro87Arg)
|
rs774989438
|
0.00001
|
NM_152732.5(RSPH9):c.272A>G (p.Glu91Gly)
|
rs777885477
|
0.00001
|
NM_152732.5(RSPH9):c.481A>G (p.Lys161Glu)
|
rs1351239709
|
0.00001
|
NM_152732.5(RSPH9):c.757C>T (p.Pro253Ser)
|
rs1449083319
|
0.00001
|
NM_153704.6(TMEM67):c.1066C>G (p.Leu356Val)
|
rs1371143789
|
0.00001
|
NM_153704.6(TMEM67):c.1145T>G (p.Ile382Ser)
|
rs1212851821
|
0.00001
|
NM_153704.6(TMEM67):c.1209T>G (p.Asp403Glu)
|
rs1160691103
|
0.00001
|
NM_153704.6(TMEM67):c.1288+6A>G
|
rs766852784
|
0.00001
|
NM_153704.6(TMEM67):c.1294A>G (p.Asn432Asp)
|
rs768285863
|
0.00001
|
NM_153704.6(TMEM67):c.152A>G (p.Asn51Ser)
|
rs1165968607
|
0.00001
|
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile)
|
rs774701716
|
0.00001
|
NM_153704.6(TMEM67):c.1886T>A (p.Ile629Lys)
|
rs1213811614
|
0.00001
|
NM_153704.6(TMEM67):c.1895T>G (p.Ile632Ser)
|
rs1440787153
|
0.00001
|
NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln)
|
rs769827614
|
0.00001
|
NM_153704.6(TMEM67):c.1A>G (p.Met1Val)
|
rs772948173
|
0.00001
|
NM_153704.6(TMEM67):c.2100+3A>G
|
rs376417882
|
0.00001
|
NM_153704.6(TMEM67):c.2176C>T (p.Pro726Ser)
|
rs746521577
|
0.00001
|
NM_153704.6(TMEM67):c.2188A>G (p.Ile730Val)
|
rs776427277
|
0.00001
|
NM_153704.6(TMEM67):c.2237T>C (p.Ile746Thr)
|
rs947256938
|
0.00001
|
NM_153704.6(TMEM67):c.226A>G (p.Thr76Ala)
|
rs747598603
|
0.00001
|
NM_153704.6(TMEM67):c.2335C>G (p.Leu779Val)
|
rs762351497
|
0.00001
|
NM_153704.6(TMEM67):c.239G>A (p.Cys80Tyr)
|
rs1812545095
|
0.00001
|
NM_153704.6(TMEM67):c.2438C>T (p.Ala813Val)
|
rs199874479
|
0.00001
|
NM_153704.6(TMEM67):c.2447T>G (p.Leu816Trp)
|
rs753654003
|
0.00001
|
NM_153704.6(TMEM67):c.2661+4T>C
|
rs1298703067
|
0.00001
|
NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser)
|
rs1461948623
|
0.00001
|
NM_153704.6(TMEM67):c.2732T>A (p.Met911Lys)
|
rs765686583
|
0.00001
|
NM_153704.6(TMEM67):c.2774A>G (p.Tyr925Cys)
|
rs376103225
|
0.00001
|
NM_153704.6(TMEM67):c.2789T>C (p.Val930Ala)
|
rs199549673
|
0.00001
|
NM_153704.6(TMEM67):c.28G>A (p.Ala10Thr)
|
rs1247854097
|
0.00001
|
NM_153704.6(TMEM67):c.2948T>C (p.Leu983Ser)
|
rs775933592
|
0.00001
|
NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe)
|
rs375047471
|
0.00001
|
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val)
|
rs146838062
|
0.00001
|
NM_153704.6(TMEM67):c.601A>G (p.Thr201Ala)
|
rs771031546
|
0.00001
|
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro)
|
rs767886819
|
0.00001
|
NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu)
|
rs371462532
|
0.00001
|
NM_153704.6(TMEM67):c.766A>G (p.Asn256Asp)
|
rs369178053
|
0.00001
|
NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe)
|
rs1376394849
|
0.00001
|
NM_153704.6(TMEM67):c.8C>T (p.Thr3Met)
|
rs779950527
|
0.00001
|
NM_153704.6(TMEM67):c.926T>G (p.Val309Gly)
|
rs750006477
|
0.00001
|
NM_153704.6(TMEM67):c.934T>C (p.Ser312Pro)
|
rs864622335
|
0.00001
|
NM_153704.6(TMEM67):c.983C>T (p.Thr328Ile)
|
rs776653840
|
0.00001
|
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln)
|
rs745640537
|
0.00001
|
NM_153717.3(EVC):c.1283C>T (p.Ala428Val)
|
rs1409088904
|
0.00001
|
NM_153717.3(EVC):c.1316-10T>A
|
rs1730755993
|
0.00001
|
NM_153717.3(EVC):c.136C>T (p.Leu46Phe)
|
rs1246844384
|
0.00001
|
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys)
|
rs146232611
|
0.00001
|
NM_153717.3(EVC):c.1638G>T (p.Met546Ile)
|
rs1225766769
|
0.00001
|
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr)
|
rs926749491
|
0.00001
|
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp)
|
rs1373148885
|
0.00001
|
NM_153717.3(EVC):c.1955G>A (p.Arg652His)
|
rs765024763
|
0.00001
|
NM_153717.3(EVC):c.2026G>A (p.Glu676Lys)
|
rs367968708
|
0.00001
|
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly)
|
rs765248751
|
0.00001
|
NM_153717.3(EVC):c.2500C>T (p.Pro834Ser)
|
rs1395596111
|
0.00001
|
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln)
|
rs930402783
|
0.00001
|
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe)
|
rs370825749
|
0.00001
|
NM_153717.3(EVC):c.2761C>T (p.Pro921Ser)
|
rs771505230
|
0.00001
|
NM_153717.3(EVC):c.27G>C (p.Lys9Asn)
|
rs1474600088
|
0.00001
|
NM_153717.3(EVC):c.340G>A (p.Ala114Thr)
|
rs756208272
|
0.00001
|
NM_153717.3(EVC):c.49G>A (p.Gly17Arg)
|
rs1722991667
|
0.00001
|
NM_153717.3(EVC):c.568C>T (p.Arg190Cys)
|
rs1286815295
|
0.00001
|
NM_153717.3(EVC):c.853A>G (p.Met285Val)
|
rs1464387798
|
0.00001
|
NM_153717.3(EVC):c.86C>T (p.Ala29Val)
|
rs1314509668
|
0.00001
|
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys)
|
rs1252316234
|
0.00001
|
NM_153717.3(EVC):c.884C>G (p.Thr295Ser)
|
rs754532508
|
0.00001
|
NM_170784.3(MKKS):c.1006C>G (p.Leu336Val)
|
rs759986531
|
0.00001
|
NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr)
|
rs1401483166
|
0.00001
|
NM_170784.3(MKKS):c.1075C>T (p.His359Tyr)
|
rs1414454066
|
0.00001
|
NM_170784.3(MKKS):c.1106C>T (p.Thr369Ile)
|
rs2064859757
|
0.00001
|
NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe)
|
rs1029793006
|
0.00001
|
NM_170784.3(MKKS):c.1226G>T (p.Gly409Val)
|
rs2064852512
|
0.00001
|
NM_170784.3(MKKS):c.1259A>G (p.Tyr420Cys)
|
rs748071139
|
0.00001
|
NM_170784.3(MKKS):c.1274C>T (p.Thr425Ile)
|
rs951838467
|
0.00001
|
NM_170784.3(MKKS):c.1280A>G (p.Asn427Ser)
|
rs776235071
|
0.00001
|
NM_170784.3(MKKS):c.1291A>G (p.Ser431Gly)
|
rs993196591
|
0.00001
|
NM_170784.3(MKKS):c.130A>C (p.Lys44Gln)
|
rs2064910872
|
0.00001
|
NM_170784.3(MKKS):c.146G>T (p.Gly49Val)
|
rs528833454
|
0.00001
|
NM_170784.3(MKKS):c.1505A>G (p.Tyr502Cys)
|
rs749139446
|
0.00001
|
NM_170784.3(MKKS):c.1606A>G (p.Asn536Asp)
|
rs1309710762
|
0.00001
|
NM_170784.3(MKKS):c.307A>G (p.Ile103Val)
|
rs771002171
|
0.00001
|
NM_170784.3(MKKS):c.31T>A (p.Leu11Met)
|
rs1443376346
|
0.00001
|
NM_170784.3(MKKS):c.364C>T (p.His122Tyr)
|
rs148221053
|
0.00001
|
NM_170784.3(MKKS):c.430T>C (p.Phe144Leu)
|
rs768539582
|
0.00001
|
NM_170784.3(MKKS):c.512C>G (p.Thr171Arg)
|
rs1303349629
|
0.00001
|
NM_170784.3(MKKS):c.541G>A (p.Ala181Thr)
|
rs1215659134
|
0.00001
|
NM_170784.3(MKKS):c.638C>G (p.Thr213Ser)
|
rs780570415
|
0.00001
|
NM_170784.3(MKKS):c.709A>G (p.Thr237Ala)
|
rs760185677
|
0.00001
|
NM_170784.3(MKKS):c.734G>A (p.Cys245Tyr)
|
rs771767882
|
0.00001
|
NM_170784.3(MKKS):c.803T>G (p.Leu268Arg)
|
rs375902906
|
0.00001
|
NM_170784.3(MKKS):c.834C>G (p.Asn278Lys)
|
rs575896442
|
0.00001
|
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr)
|
rs147704542
|
0.00001
|
NM_170784.3(MKKS):c.8G>A (p.Arg3His)
|
rs770619894
|
0.00001
|
NM_170784.3(MKKS):c.947T>C (p.Ile316Thr)
|
rs370219365
|
0.00001
|
NM_176824.3(BBS7):c.1069T>G (p.Leu357Val)
|
rs906692940
|
0.00001
|
NM_176824.3(BBS7):c.1091A>C (p.Gln364Pro)
|
rs746699644
|
0.00001
|
NM_176824.3(BBS7):c.1124C>T (p.Ala375Val)
|
rs749603454
|
0.00001
|
NM_176824.3(BBS7):c.1139G>A (p.Gly380Asp)
|
rs921736196
|
0.00001
|
NM_176824.3(BBS7):c.1184G>A (p.Ser395Asn)
|
rs889491713
|
0.00001
|
NM_176824.3(BBS7):c.1190T>C (p.Ile397Thr)
|
rs1725962975
|
0.00001
|
NM_176824.3(BBS7):c.1344G>C (p.Gln448His)
|
rs1473005529
|
0.00001
|
NM_176824.3(BBS7):c.1421C>G (p.Pro474Arg)
|
rs771018739
|
0.00001
|
NM_176824.3(BBS7):c.1487G>A (p.Arg496Lys)
|
rs750133083
|
0.00001
|
NM_176824.3(BBS7):c.1517T>C (p.Met506Thr)
|
rs200788672
|
0.00001
|
NM_176824.3(BBS7):c.1574T>G (p.Val525Gly)
|
rs746759579
|
0.00001
|
NM_176824.3(BBS7):c.1592T>C (p.Val531Ala)
|
rs778439860
|
0.00001
|
NM_176824.3(BBS7):c.1691T>C (p.Val564Ala)
|
rs1463083357
|
0.00001
|
NM_176824.3(BBS7):c.1717A>G (p.Ile573Val)
|
rs751029709
|
0.00001
|
NM_176824.3(BBS7):c.1721C>G (p.Ser574Cys)
|
rs765782762
|
0.00001
|
NM_176824.3(BBS7):c.1729A>C (p.Lys577Gln)
|
rs200953128
|
0.00001
|
NM_176824.3(BBS7):c.1904A>T (p.His635Leu)
|
rs1233960628
|
0.00001
|
NM_176824.3(BBS7):c.1916C>T (p.Thr639Met)
|
rs773771144
|
0.00001
|
NM_176824.3(BBS7):c.1960G>C (p.Asp654His)
|
rs143632090
|
0.00001
|
NM_176824.3(BBS7):c.1972G>A (p.Glu658Lys)
|
rs1044486579
|
0.00001
|
NM_176824.3(BBS7):c.198T>G (p.Ile66Met)
|
rs367765050
|
0.00001
|
NM_176824.3(BBS7):c.1996C>T (p.His666Tyr)
|
rs1342336710
|
0.00001
|
NM_176824.3(BBS7):c.2012A>G (p.Tyr671Cys)
|
rs1013002037
|
0.00001
|
NM_176824.3(BBS7):c.2017A>T (p.Met673Leu)
|
rs1436556570
|
0.00001
|
NM_176824.3(BBS7):c.257C>T (p.Ala86Val)
|
rs1274597386
|
0.00001
|
NM_176824.3(BBS7):c.262T>G (p.Ser88Ala)
|
rs1489244436
|
0.00001
|
NM_176824.3(BBS7):c.277T>G (p.Phe93Val)
|
rs750813339
|
0.00001
|
NM_176824.3(BBS7):c.329G>A (p.Ser110Asn)
|
rs775395171
|
0.00001
|
NM_176824.3(BBS7):c.479G>A (p.Arg160His)
|
rs138270119
|
0.00001
|
NM_176824.3(BBS7):c.640G>A (p.Gly214Arg)
|
rs1226167451
|
0.00001
|
NM_176824.3(BBS7):c.650C>T (p.Ala217Val)
|
rs370510563
|
0.00001
|
NM_176824.3(BBS7):c.76G>A (p.Ala26Thr)
|
rs766450289
|
0.00001
|
NM_176824.3(BBS7):c.786T>A (p.Asp262Glu)
|
rs1437278443
|
0.00001
|
NM_176824.3(BBS7):c.849+6T>G
|
rs759955004
|
0.00001
|
NM_176824.3(BBS7):c.852G>A (p.Met284Ile)
|
rs771877302
|
0.00001
|
NM_176824.3(BBS7):c.895A>G (p.Lys299Glu)
|
rs1275186434
|
0.00001
|
NM_176824.3(BBS7):c.944C>T (p.Thr315Ile)
|
rs1488474028
|
0.00001
|
NM_176824.3(BBS7):c.964A>G (p.Ile322Val)
|
rs762359988
|
0.00001
|
NM_176824.3(BBS7):c.983C>A (p.Pro328Gln)
|
rs778714139
|
0.00001
|
NM_178452.6(DNAAF1):c.1016A>G (p.Glu339Gly)
|
rs779981792
|
0.00001
|
NM_178452.6(DNAAF1):c.1072A>G (p.Ser358Gly)
|
rs751146013
|
0.00001
|
NM_178452.6(DNAAF1):c.1315G>C (p.Glu439Gln)
|
rs1385574276
|
0.00001
|
NM_178452.6(DNAAF1):c.1318G>A (p.Gly440Arg)
|
rs750949357
|
0.00001
|
NM_178452.6(DNAAF1):c.1390C>T (p.Pro464Ser)
|
rs566279701
|
0.00001
|
NM_178452.6(DNAAF1):c.1550C>T (p.Ala517Val)
|
rs754836834
|
0.00001
|
NM_178452.6(DNAAF1):c.1590A>T (p.Arg530Ser)
|
rs774502745
|
0.00001
|
NM_178452.6(DNAAF1):c.1595A>T (p.Glu532Val)
|
rs1170737480
|
0.00001
|
NM_178452.6(DNAAF1):c.1644+6T>C
|
rs749557708
|
0.00001
|
NM_178452.6(DNAAF1):c.1847C>T (p.Ala616Val)
|
rs374900685
|
0.00001
|
NM_178452.6(DNAAF1):c.1907G>A (p.Arg636Gln)
|
rs773443425
|
0.00001
|
NM_178452.6(DNAAF1):c.191A>G (p.Gln64Arg)
|
rs878855278
|
0.00001
|
NM_178452.6(DNAAF1):c.2083G>A (p.Ala695Thr)
|
rs775618173
|
0.00001
|
NM_178452.6(DNAAF1):c.2095G>A (p.Glu699Lys)
|
rs1428022614
|
0.00001
|
NM_178452.6(DNAAF1):c.46C>G (p.Leu16Val)
|
rs545356113
|
0.00001
|
NM_178452.6(DNAAF1):c.532C>G (p.Leu178Val)
|
rs1325784286
|
0.00001
|
NM_178452.6(DNAAF1):c.572T>C (p.Leu191Pro)
|
rs1555521180
|
0.00001
|
NM_178452.6(DNAAF1):c.575-10T>A
|
rs561544696
|
0.00001
|
NM_178452.6(DNAAF1):c.652G>C (p.Glu218Gln)
|
rs1305691679
|
0.00001
|
NM_178452.6(DNAAF1):c.683C>T (p.Ser228Leu)
|
rs775622753
|
0.00001
|
NM_178452.6(DNAAF1):c.73G>C (p.Glu25Gln)
|
rs565199726
|
0.00001
|
NM_178452.6(DNAAF1):c.940C>T (p.Arg314Trp)
|
rs536922836
|
0.00001
|
NM_178452.6(DNAAF1):c.941G>A (p.Arg314Gln)
|
rs374704486
|
0.00001
|
NM_181426.2(CCDC39):c.1035G>C (p.Arg345Ser)
|
rs770110944
|
0.00001
|
NM_181426.2(CCDC39):c.1102A>G (p.Met368Val)
|
rs564446820
|
0.00001
|
NM_181426.2(CCDC39):c.1222G>A (p.Glu408Lys)
|
rs538640066
|
0.00001
|
NM_181426.2(CCDC39):c.1490C>T (p.Thr497Ile)
|
rs765773503
|
0.00001
|
NM_181426.2(CCDC39):c.1568G>A (p.Ser523Asn)
|
rs1418008218
|
0.00001
|
NM_181426.2(CCDC39):c.2102T>G (p.Val701Gly)
|
rs980451572
|
0.00001
|
NM_181426.2(CCDC39):c.2303C>T (p.Ala768Val)
|
rs1400344619
|
0.00001
|
NM_181426.2(CCDC39):c.232C>T (p.Arg78Cys)
|
rs878855281
|
0.00001
|
NM_181426.2(CCDC39):c.238A>G (p.Thr80Ala)
|
rs368066081
|
0.00001
|
NM_181426.2(CCDC39):c.2431C>T (p.Arg811Cys)
|
rs574993914
|
0.00001
|
NM_181426.2(CCDC39):c.2642C>T (p.Ser881Phe)
|
rs1015604911
|
0.00001
|
NM_181426.2(CCDC39):c.331A>G (p.Ile111Val)
|
rs368618125
|
0.00001
|
NM_181426.2(CCDC39):c.347G>C (p.Ser116Thr)
|
rs181573011
|
0.00001
|
NM_181426.2(CCDC39):c.470C>T (p.Ala157Val)
|
rs770405043
|
0.00001
|
NM_181426.2(CCDC39):c.551A>C (p.Glu184Ala)
|
rs752974826
|
0.00001
|
NM_181426.2(CCDC39):c.662A>G (p.Gln221Arg)
|
rs375385797
|
0.00001
|
NM_181426.2(CCDC39):c.689C>T (p.Thr230Ile)
|
rs1445512588
|
0.00001
|
NM_181426.2(CCDC39):c.692T>C (p.Ile231Thr)
|
rs748172583
|
0.00001
|
NM_181426.2(CCDC39):c.73A>G (p.Lys25Glu)
|
rs746593370
|
0.00001
|
NM_198428.3(BBS9):c.1033A>G (p.Ile345Val)
|
rs1426530664
|
0.00001
|
NM_198428.3(BBS9):c.1048G>C (p.Asp350His)
|
rs1450271969
|
0.00001
|
NM_198428.3(BBS9):c.1111G>A (p.Val371Ile)
|
rs1366355966
|
0.00001
|
NM_198428.3(BBS9):c.1147G>A (p.Val383Ile)
|
rs1030973947
|
0.00001
|
NM_198428.3(BBS9):c.1210A>G (p.Met404Val)
|
rs779666112
|
0.00001
|
NM_198428.3(BBS9):c.122T>G (p.Ile41Ser)
|
rs1381039813
|
0.00001
|
NM_198428.3(BBS9):c.1258A>G (p.Asn420Asp)
|
rs1436119227
|
0.00001
|
NM_198428.3(BBS9):c.1329+5T>C
|
rs200033003
|
0.00001
|
NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr)
|
rs773192233
|
0.00001
|
NM_198428.3(BBS9):c.1361A>G (p.Lys454Arg)
|
rs370631861
|
0.00001
|
NM_198428.3(BBS9):c.1481G>A (p.Ser494Asn)
|
rs775868685
|
0.00001
|
NM_198428.3(BBS9):c.1511C>T (p.Ala504Val)
|
rs750504833
|
0.00001
|
NM_198428.3(BBS9):c.1538-7T>G
|
rs375661214
|
0.00001
|
NM_198428.3(BBS9):c.1558C>T (p.Pro520Ser)
|
rs149730302
|
0.00001
|
NM_198428.3(BBS9):c.155T>G (p.Phe52Cys)
|
rs756750359
|
0.00001
|
NM_198428.3(BBS9):c.1574G>A (p.Cys525Tyr)
|
rs746119144
|
0.00001
|
NM_198428.3(BBS9):c.1642A>G (p.Ile548Val)
|
rs1050416352
|
0.00001
|
NM_198428.3(BBS9):c.1645A>G (p.Thr549Ala)
|
rs1310602174
|
0.00001
|
NM_198428.3(BBS9):c.1699G>A (p.Ala567Thr)
|
rs200439561
|
0.00001
|
NM_198428.3(BBS9):c.1819G>A (p.Glu607Lys)
|
rs771575427
|
0.00001
|
NM_198428.3(BBS9):c.1836A>G (p.Ile612Met)
|
rs752845007
|
0.00001
|
NM_198428.3(BBS9):c.1855C>T (p.Arg619Cys)
|
rs543113169
|
0.00001
|
NM_198428.3(BBS9):c.1856G>A (p.Arg619His)
|
rs750412402
|
0.00001
|
NM_198428.3(BBS9):c.1910C>T (p.Ser637Leu)
|
rs771777721
|
0.00001
|
NM_198428.3(BBS9):c.1911G>A (p.Ser637=)
|
rs138454676
|
0.00001
|
NM_198428.3(BBS9):c.1918_1920dup (p.Ile640dup)
|
rs761174142
|
0.00001
|
NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys)
|
rs746543061
|
0.00001
|
NM_198428.3(BBS9):c.2072C>T (p.Pro691Leu)
|
rs759571062
|
0.00001
|
NM_198428.3(BBS9):c.2088C>A (p.Asp696Glu)
|
rs752548438
|
0.00001
|
NM_198428.3(BBS9):c.2099A>G (p.Asp700Gly)
|
rs763790518
|
0.00001
|
NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu)
|
rs1402083567
|
0.00001
|
NM_198428.3(BBS9):c.2373G>T (p.Gln791His)
|
rs758968522
|
0.00001
|
NM_198428.3(BBS9):c.2381A>G (p.Asn794Ser)
|
rs774701632
|
0.00001
|
NM_198428.3(BBS9):c.2491G>A (p.Ala831Thr)
|
rs1851012393
|
0.00001
|
NM_198428.3(BBS9):c.2533A>G (p.Thr845Ala)
|
rs545725547
|
0.00001
|
NM_198428.3(BBS9):c.2566G>T (p.Val856Leu)
|
rs764122627
|
0.00001
|
NM_198428.3(BBS9):c.2621C>T (p.Thr874Ile)
|
rs750363787
|
0.00001
|
NM_198428.3(BBS9):c.2623C>T (p.Pro875Ser)
|
rs755911247
|
0.00001
|
NM_198428.3(BBS9):c.2636T>A (p.Val879Asp)
|
rs976242629
|
0.00001
|
NM_198428.3(BBS9):c.263C>T (p.Ser88Leu)
|
rs749974697
|
0.00001
|
NM_198428.3(BBS9):c.2654T>C (p.Val885Ala)
|
rs1238854328
|
0.00001
|
NM_198428.3(BBS9):c.395A>G (p.Gln132Arg)
|
rs542324847
|
0.00001
|
NM_198428.3(BBS9):c.397A>G (p.Arg133Gly)
|
rs759120113
|
0.00001
|
NM_198428.3(BBS9):c.410A>G (p.Asn137Ser)
|
rs752108930
|
0.00001
|
NM_198428.3(BBS9):c.469A>G (p.Met157Val)
|
rs148763093
|
0.00001
|
NM_198428.3(BBS9):c.49A>G (p.Lys17Glu)
|
rs1329996453
|
0.00001
|
NM_198428.3(BBS9):c.632C>T (p.Ala211Val)
|
rs1225416201
|
0.00001
|
NM_198428.3(BBS9):c.665C>T (p.Thr222Ile)
|
rs1317691865
|
0.00001
|
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser)
|
rs1279852557
|
0.00001
|
NM_198428.3(BBS9):c.839T>C (p.Met280Thr)
|
rs143119193
|
0.00001
|
NM_198428.3(BBS9):c.894A>C (p.Glu298Asp)
|
rs757469936
|
0.00001
|
NM_198428.3(BBS9):c.929A>T (p.Asn310Ile)
|
rs1341125124
|
0.00001
|
NM_198428.3(BBS9):c.938A>G (p.His313Arg)
|
rs533714503
|
0.00001
|
NM_198428.3(BBS9):c.979C>T (p.Pro327Ser)
|
rs760272596
|
0.00001
|
NM_198428.3(BBS9):c.989C>T (p.Pro330Leu)
|
rs370056161
|
0.00001
|
NM_198525.3(KIF7):c.1115C>T (p.Ala372Val)
|
rs1331968966
|
0.00001
|
NM_198525.3(KIF7):c.1158C>A (p.His386Gln)
|
rs1208805083
|
0.00001
|
NM_198525.3(KIF7):c.1180C>T (p.Pro394Ser)
|
rs1298790380
|
0.00001
|
NM_198525.3(KIF7):c.1285G>A (p.Glu429Lys)
|
rs946190172
|
0.00001
|
NM_198525.3(KIF7):c.1287G>T (p.Glu429Asp)
|
rs1297297468
|
0.00001
|
NM_198525.3(KIF7):c.13G>T (p.Ala5Ser)
|
rs1964147870
|
0.00001
|
NM_198525.3(KIF7):c.143C>T (p.Thr48Ile)
|
rs1035083771
|
0.00001
|
NM_198525.3(KIF7):c.1457C>T (p.Ala486Val)
|
rs1305987882
|
0.00001
|
NM_198525.3(KIF7):c.151C>T (p.Arg51Cys)
|
rs746429585
|
0.00001
|
NM_198525.3(KIF7):c.156C>A (p.Asp52Glu)
|
rs1203068941
|
0.00001
|
NM_198525.3(KIF7):c.1591A>T (p.Met531Leu)
|
rs1364028483
|
0.00001
|
NM_198525.3(KIF7):c.1609C>T (p.Arg537Trp)
|
rs752524061
|
0.00001
|
NM_198525.3(KIF7):c.1672T>A (p.Ser558Thr)
|
rs746600720
|
0.00001
|
NM_198525.3(KIF7):c.1711G>A (p.Ala571Thr)
|
rs140185951
|
0.00001
|
NM_198525.3(KIF7):c.1763A>C (p.Glu588Ala)
|
rs772703638
|
0.00001
|
NM_198525.3(KIF7):c.1808A>T (p.Glu603Val)
|
rs761922179
|
0.00001
|
NM_198525.3(KIF7):c.1859C>T (p.Ser620Leu)
|
rs776869340
|
0.00001
|
NM_198525.3(KIF7):c.187G>A (p.Glu63Lys)
|
rs1459778502
|
0.00001
|
NM_198525.3(KIF7):c.194C>G (p.Ala65Gly)
|
rs775159552
|
0.00001
|
NM_198525.3(KIF7):c.2017G>A (p.Ala673Thr)
|
rs778447926
|
0.00001
|
NM_198525.3(KIF7):c.2083C>T (p.Pro695Ser)
|
rs779543411
|
0.00001
|
NM_198525.3(KIF7):c.2131C>T (p.Arg711Trp)
|
rs1255667027
|
0.00001
|
NM_198525.3(KIF7):c.2132G>A (p.Arg711Gln)
|
rs368873919
|
0.00001
|
NM_198525.3(KIF7):c.2152C>T (p.Arg718Cys)
|
rs372882880
|
0.00001
|
NM_198525.3(KIF7):c.218C>T (p.Ala73Val)
|
rs552362795
|
0.00001
|
NM_198525.3(KIF7):c.2216G>A (p.Arg739His)
|
rs943930875
|
0.00001
|
NM_198525.3(KIF7):c.2227C>A (p.Gln743Lys)
|
rs145324453
|
0.00001
|
NM_198525.3(KIF7):c.2283A>T (p.Glu761Asp)
|
rs758677022
|
0.00001
|
NM_198525.3(KIF7):c.2299C>T (p.Arg767Trp)
|
rs201091656
|
0.00001
|
NM_198525.3(KIF7):c.2326G>C (p.Asp776His)
|
rs1249809748
|
0.00001
|
NM_198525.3(KIF7):c.2359C>T (p.Arg787Cys)
|
rs762787424
|
0.00001
|
NM_198525.3(KIF7):c.2369T>G (p.Val790Gly)
|
rs759322369
|
0.00001
|
NM_198525.3(KIF7):c.2419A>G (p.Thr807Ala)
|
rs771441248
|
0.00001
|
NM_198525.3(KIF7):c.2530G>A (p.Glu844Lys)
|
rs760348444
|
0.00001
|
NM_198525.3(KIF7):c.2552G>A (p.Arg851His)
|
rs750613716
|
0.00001
|
NM_198525.3(KIF7):c.2568G>A (p.Met856Ile)
|
rs751970641
|
0.00001
|
NM_198525.3(KIF7):c.2828T>A (p.Leu943Gln)
|
rs375079629
|
0.00001
|
NM_198525.3(KIF7):c.2860A>T (p.Thr954Ser)
|
rs1002040263
|
0.00001
|
NM_198525.3(KIF7):c.2887T>A (p.Ser963Thr)
|
rs567836651
|
0.00001
|
NM_198525.3(KIF7):c.2896-18T>A
|
rs528968559
|
0.00001
|
NM_198525.3(KIF7):c.2930G>A (p.Arg977Gln)
|
rs769540024
|
0.00001
|
NM_198525.3(KIF7):c.2935G>A (p.Glu979Lys)
|
rs558313041
|
0.00001
|
NM_198525.3(KIF7):c.2957C>T (p.Ser986Phe)
|
rs746893972
|
0.00001
|
NM_198525.3(KIF7):c.2971C>A (p.Gln991Lys)
|
rs1467513774
|
0.00001
|
NM_198525.3(KIF7):c.2978G>A (p.Arg993Gln)
|
rs746107537
|
0.00001
|
NM_198525.3(KIF7):c.2996G>T (p.Ser999Ile)
|
rs1375916466
|
0.00001
|
NM_198525.3(KIF7):c.3087G>C (p.Arg1029Ser)
|
rs547282977
|
0.00001
|
NM_198525.3(KIF7):c.3109G>A (p.Glu1037Lys)
|
rs779514045
|
0.00001
|
NM_198525.3(KIF7):c.3122C>T (p.Thr1041Met)
|
rs779273024
|
0.00001
|
NM_198525.3(KIF7):c.3127T>G (p.Phe1043Val)
|
rs1184688512
|
0.00001
|
NM_198525.3(KIF7):c.3170A>G (p.Glu1057Gly)
|
rs1963648189
|
0.00001
|
NM_198525.3(KIF7):c.3197G>A (p.Arg1066His)
|
rs763937653
|
0.00001
|
NM_198525.3(KIF7):c.3203G>A (p.Arg1068Gln)
|
rs767837351
|
0.00001
|
NM_198525.3(KIF7):c.3212G>A (p.Arg1071Gln)
|
rs768917109
|
0.00001
|
NM_198525.3(KIF7):c.3226T>A (p.Leu1076Met)
|
rs745423935
|
0.00001
|
NM_198525.3(KIF7):c.3481G>A (p.Glu1161Lys)
|
rs567337105
|
0.00001
|
NM_198525.3(KIF7):c.3510G>T (p.Gln1170His)
|
rs1198876598
|
0.00001
|
NM_198525.3(KIF7):c.3517+4A>G
|
rs1305466322
|
0.00001
|
NM_198525.3(KIF7):c.3554A>T (p.Gln1185Leu)
|
rs1479026507
|
0.00001
|
NM_198525.3(KIF7):c.3560A>G (p.Glu1187Gly)
|
rs775574580
|
0.00001
|
NM_198525.3(KIF7):c.3565C>T (p.Arg1189Trp)
|
rs765317455
|
0.00001
|
NM_198525.3(KIF7):c.3697A>G (p.Arg1233Gly)
|
rs1410298399
|
0.00001
|
NM_198525.3(KIF7):c.3730C>G (p.Leu1244Val)
|
rs1963594414
|
0.00001
|
NM_198525.3(KIF7):c.3766_3783del (p.Glu1256_Thr1261del)
|
rs769689199
|
0.00001
|
NM_198525.3(KIF7):c.3839C>T (p.Ser1280Leu)
|
rs775526351
|
0.00001
|
NM_198525.3(KIF7):c.3874G>A (p.Glu1292Lys)
|
rs1044478234
|
0.00001
|
NM_198525.3(KIF7):c.394G>A (p.Asp132Asn)
|
rs1410526224
|
0.00001
|
NM_198525.3(KIF7):c.3968A>G (p.Lys1323Arg)
|
rs537735484
|
0.00001
|
NM_198525.3(KIF7):c.4004T>A (p.Met1335Lys)
|
rs771532005
|
0.00001
|
NM_198525.3(KIF7):c.4007T>C (p.Ile1336Thr)
|
rs747455856
|
0.00001
|
NM_198525.3(KIF7):c.4015C>T (p.Arg1339Trp)
|
rs757946358
|
0.00001
|
NM_198525.3(KIF7):c.4016G>A (p.Arg1339Gln)
|
rs747829509
|
0.00001
|
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)
|
rs758361736
|
0.00001
|
NM_198525.3(KIF7):c.43C>T (p.Pro15Ser)
|
rs1454209591
|
0.00001
|
NM_198525.3(KIF7):c.472G>A (p.Glu158Lys)
|
rs1322167851
|
0.00001
|
NM_198525.3(KIF7):c.530-18G>A
|
rs775287284
|
0.00001
|
NM_198525.3(KIF7):c.623C>T (p.Thr208Met)
|
rs886051541
|
0.00001
|
NM_198525.3(KIF7):c.643A>G (p.Ser215Gly)
|
rs886051540
|
0.00001
|
NM_198525.3(KIF7):c.646C>T (p.Arg216Cys)
|
rs1373212168
|
0.00001
|
NM_198525.3(KIF7):c.701G>A (p.Arg234His)
|
rs898910099
|
0.00001
|
NM_198525.3(KIF7):c.719C>T (p.Pro240Leu)
|
rs886051539
|
0.00001
|
NM_198525.3(KIF7):c.721G>T (p.Gly241Cys)
|
rs1004531343
|
0.00001
|
NM_198525.3(KIF7):c.730C>T (p.Leu244Phe)
|
rs1596078831
|
0.00001
|
NM_198525.3(KIF7):c.869G>A (p.Gly290Glu)
|
rs531693490
|
0.00001
|
NM_198525.3(KIF7):c.962T>C (p.Val321Ala)
|
rs913347544
|
0.00001
|
NM_198525.3(KIF7):c.976G>A (p.Val326Ile)
|
rs1964066861
|
0.00001
|
NM_213607.3(CCDC103):c.106G>A (p.Ala36Thr)
|
rs376733810
|
0.00001
|
NM_213607.3(CCDC103):c.329G>A (p.Arg110Gln)
|
rs755213252
|
0.00001
|
NM_213607.3(CCDC103):c.413A>C (p.Asp138Ala)
|
rs372407548
|
0.00001
|
NM_213607.3(CCDC103):c.437A>G (p.Glu146Gly)
|
rs1389269843
|
0.00001
|
NM_213607.3(CCDC103):c.500T>A (p.Leu167Gln)
|
rs764358359
|
0.00001
|
NM_213607.3(CCDC103):c.553C>T (p.Arg185Trp)
|
rs773807492
|
0.00001
|
NM_213607.3(CCDC103):c.554G>A (p.Arg185Gln)
|
rs182319938
|
0.00001
|
NM_213607.3(CCDC103):c.5A>G (p.Glu2Gly)
|
rs890129325
|
0.00001
|
NC_000001.10:g.(?_243303219)_(245027609_?)dup
|
|
|
NC_000001.10:g.(?_243349541)_(243419562_?)dup
|
|
|
NC_000001.10:g.(?_243437825)_(243437978_?)del
|
|
|
NC_000001.10:g.(?_243456373)_(243456541_?)del
|
|
|
NC_000001.10:g.(?_243493822)_(243494014_?)dup
|
|
|
NC_000001.10:g.(?_243504321)_(243507653_?)del
|
|
|
NC_000001.10:g.(?_243507497)_(243507653_?)del
|
|
|
NC_000001.10:g.(?_243578984)_(243589880_?)del
|
|
|
NC_000001.10:g.(?_243589709)_(243589880_?)del
|
|
|
NC_000001.10:g.(?_3731966)_(3768971_?)dup
|
|
|
NC_000002.11:g.(?_166731265)_(166758440_?)dup
|
|
|
NC_000002.11:g.(?_166746969)_(166810215_?)dup
|
|
|
NC_000002.11:g.(?_169853125)_(170344644_?)dup
|
|
|
NC_000002.11:g.(?_170344296)_(170382206_?)dup
|
|
|
NC_000002.11:g.(?_202334676)_(202523241_?)dup
|
|
|
NC_000002.11:g.(?_202488978)_(202508123_?)dup
|
|
|
NC_000002.11:g.(?_202496774)_(202498154_?)del
|
|
|
NC_000002.11:g.(?_231033840)_(234978657_?)dup
|
|
|
NC_000002.11:g.(?_232597662)_(232597763_?)del
|
|
|
NC_000002.11:g.(?_232597662)_(232597763_?)dup
|
|
|
NC_000002.11:g.(?_232597662)_(232603918_?)dup
|
|
|
NC_000002.11:g.(?_26624838)_(26644288_?)dup
|
|
|
NC_000002.11:g.(?_27667299)_(27677547_?)dup
|
|
|
NC_000002.11:g.(?_27670372)_(27670799_?)dup
|
|
|
NC_000002.11:g.(?_27688258)_(27688405_?)del
|
|
|
NC_000002.11:g.(?_27712462)_(27726506_?)dup
|
|
|
NC_000002.11:g.(?_62991401)_(64335444_?)dup
|
|
|
NC_000002.11:g.(?_63349141)_(63380709_?)del
|
|
|
NC_000002.11:g.(?_63380029)_(63401987_?)del
|
|
|
NC_000002.11:g.(?_63486422)_(63609249_?)del
|
|
|
NC_000002.11:g.(?_63540363)_(63667025_?)del
|
|
|
NC_000002.11:g.(?_63660859)_(63667025_?)dup
|
|
|
NC_000002.11:g.(?_73114549)_(73836749_?)dup
|
|
|
NC_000002.11:g.(?_73612997)_(73747163_?)dup
|
|
|
NC_000002.11:g.(?_73676196)_(73677479_?)del
|
|
|
NC_000002.11:g.(?_73761931)_(73762096_?)del
|
|
|
NC_000002.11:g.(?_73777374)_(73777584_?)del
|
|
|
NC_000002.11:g.(?_73784327)_(73786289_?)del
|
|
|
NC_000002.11:g.(?_73799369)_(73836739_?)dup
|
|
|
NC_000002.11:g.(?_73830348)_(73836739_?)del
|
|
|
NC_000002.11:g.(?_73835582)_(73836739_?)del
|
|
|
NC_000002.11:g.(?_73835582)_(73836739_?)dup
|
|
|
NC_000002.12:g.(?_63484584)_(63492960_?)del
|
|
|
NC_000002.12:g.(?_73603231)_(73609622_?)del
|
|
|
NC_000003.11:g.(?_159976313)_(159976443_?)dup
|
|
|
NC_000003.11:g.(?_159976313)_(160075386_?)dup
|
|
|
NC_000003.11:g.(?_159976313)_(160102388_?)dup
|
|
|
NC_000003.11:g.(?_160000246)_(160003676_?)del
|
|
|
NC_000003.11:g.(?_160075257)_(160075386_?)del
|
|
|
NC_000003.11:g.(?_180365933)_(180381794_?)dup
|
|
|
NC_000003.11:g.(?_180379629)_(180379815_?)dup
|
|
|
NC_000003.11:g.(?_180397059)_(180397168_?)dup
|
|
|
NC_000003.11:g.(?_49866536)_(50540854_?)dup
|
|
|
NC_000003.11:g.(?_52356439)_(52366430_?)dup
|
|
|
NC_000003.11:g.(?_52424931)_(52427521_?)del
|
|
|
NC_000003.11:g.(?_93593089)_(93722772_?)dup
|
|
|
NC_000003.11:g.(?_93692478)_(93699346_?)dup
|
|
|
NC_000003.11:g.(?_93768230)_(93772107_?)dup
|
|
|
NC_000003.11:g.(?_93772011)_(93845334_?)dup
|
|
|
NC_000003.11:g.(?_97439105)_(97510809_?)dup
|
|
|
NC_000003.11:g.(?_97486952)_(97487094_?)dup
|
|
|
NC_000003.11:g.(?_97486952)_(97510690_?)dup
|
|
|
NC_000003.11:g.(?_97486952)_(97516893_?)dup
|
|
|
NC_000003.12:g.(?_93874245)_(94015269_?)dup
|
|
|
NC_000003.12:g.(?_93973674)_(94126490_?)dup
|
|
|
NC_000003.12:g.(?_94035331)_(94061511_?)dup
|
|
|
NC_000004.11:g.(?_15477557)_(16228080_?)dup
|
|
|
NC_000004.11:g.(?_169799043)_(170523781_?)dup
|
|
|
NC_000004.11:g.(?_170482611)_(170523781_?)dup
|
|
|
NC_000004.11:g.(?_39184178)_(39259194_?)dup
|
|
|
NC_000004.11:g.(?_39226484)_(39226673_?)del
|
|
|
NC_000004.11:g.(?_39245868)_(39259174_?)del
|
|
|
NC_000004.11:g.(?_5720955)_(5721120_?)del
|
|
|
NC_000004.11:g.15589466_15589468delGAA
|
rs794729225
|
|
NC_000005.10:g.(?_13791974)_(13944458_?)dup
|
|
|
NC_000005.10:g.(?_13791974)_(13944517_?)dup
|
|
|
NC_000005.9:g.(?_13692073)_(13692264_?)dup
|
|
|
NC_000005.9:g.(?_13692093)_(13754467_?)dup
|
|
|
NC_000005.9:g.(?_13792102)_(14184284_?)dup
|
|
|
NC_000005.9:g.(?_13840995)_(13841259_?)del
|
|
|
NC_000005.9:g.(?_54527203)_(54529351_?)dup
|
|
|
NC_000006.11:g.(?_116937787)_(117252669_?)dup
|
|
|
NC_000006.11:g.(?_135606783)_(135813375_?)dup
|
|
|
NC_000006.11:g.(?_135644280)_(135813375_?)dup
|
|
|
NC_000006.11:g.(?_135679250)_(135813375_?)dup
|
|
|
NC_000006.11:g.(?_135768146)_(135774574_?)del
|
|
|
NC_000006.11:g.(?_135811741)_(135813375_?)dup
|
|
|
NC_000006.11:g.(?_158532398)_(160114199_?)dup
|
|
|
NC_000006.12:g.(?_135394776)_(135411544_?)del
|
|
|
NC_000006.12:g.(?_38737047)_(38750609_?)del
|
|
|
NC_000006.12:g.135404974CCT[1]
|
|
|
NC_000007.13:g.(?_158649427)_(158738470_?)dup
|
|
|
NC_000007.13:g.(?_158662526)_(158727260_?)dup
|
|
|
NC_000007.13:g.(?_158662526)_(158738470_?)dup
|
|
|
NC_000007.13:g.(?_158672355)_(158672700_?)del
|
|
|
NC_000007.13:g.(?_158711411)_(158738470_?)dup
|
|
|
NC_000007.13:g.(?_158734596)_(158738470_?)dup
|
|
|
NC_000007.13:g.(?_20994491)_(23213917_?)dup
|
|
|
NC_000007.13:g.(?_21582864)_(21678703_?)dup
|
|
|
NC_000007.13:g.(?_21824025)_(21828980_?)del
|
|
|
NC_000007.13:g.(?_21920300)_(21924048_?)dup
|
|
|
NC_000007.13:g.(?_33136085)_(33185996_?)dup
|
|
|
NC_000007.13:g.(?_33185845)_(33185996_?)dup
|
|
|
NC_000007.13:g.(?_33185865)_(33644838_?)dup
|
|
|
NC_000007.13:g.(?_33192313)_(33195314_?)dup
|
|
|
NC_000007.13:g.(?_33644457)_(33644838_?)dup
|
|
|
NC_000007.13:g.(?_33644477)_(33767915_?)dup
|
|
|
NC_000007.13:g.(?_36429636)_(37956139_?)dup
|
|
|
NC_000007.13:g.(?_37889849)_(37936714_?)del
|
|
|
NC_000007.13:g.(?_37934048)_(37936694_?)dup
|
|
|
NC_000007.13:g.(?_766358)_(781122_?)dup
|
|
|
NC_000007.14:g.(?_158926167)_(158927063_?)del
|
|
|
NC_000007.14:g.(?_21710533)_(21711880_?)dup
|
|
|
NC_000007.14:g.(?_33095234)_(33146364_?)dup
|
|
|
NC_000007.14:g.(?_33505463)_(33505645_?)del
|
|
|
NC_000007.14:g.(?_33505463)_(33605226_?)del
|
|
|
NC_000008.10:g.(?_101190024)_(101253250_?)del
|
|
|
NC_000008.10:g.(?_67786376)_(68165857_?)dup
|
|
|
NC_000008.10:g.(?_67976634)_(68071392_?)dup
|
|
|
NC_000008.10:g.(?_68015252)_(68015390_?)dup
|
|
|
NC_000008.10:g.(?_68024187)_(68107828_?)dup
|
|
|
NC_000008.10:g.(?_68024187)_(68107848_?)dup
|
|
|
NC_000008.10:g.(?_68024197)_(68107828_?)dup
|
|
|
NC_000008.10:g.(?_68070662)_(68071392_?)del
|
|
|
NC_000008.10:g.(?_68105679)_(68105857_?)del
|
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|
NC_000008.10:g.(?_94767143)_(94828680_?)dup
|
|
|
NC_000008.11:g.(?_100225153)_(100231308_?)del
|
|
|
NC_000008.11:g.(?_67010715)_(67064496_?)dup
|
|
|
NC_000008.11:g.(?_67111972)_(67218138_?)dup
|
|
|
NC_000008.11:g.(?_67193464)_(67193602_?)del
|
|
|
NC_000008.11:g.67195383TGA[3]
|
rs772729206
|
|
NC_000008.11:g.93799747GGAATTATACAGGTAA[3]
|
|
|
NC_000009.11:g.(?_131379899)_(131403238_?)dup
|
|
|
NC_000009.11:g.(?_131386587)_(131399326_?)dup
|
|
|
NC_000009.11:g.(?_131402950)_(131403238_?)del
|
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|
NC_000009.11:g.(?_131418800)_(131419005_?)dup
|
|
|
NC_000009.11:g.(?_139297240)_(139572028_?)dup
|
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|
NC_000009.11:g.(?_139328469)_(139333871_?)dup
|
|
|
NC_000009.11:g.(?_32453279)_(37785041_?)dup
|
|
|
NC_000009.11:g.(?_34520636)_(34520754_?)dup
|
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|
NC_000009.12:g.(?_136434017)_(136439439_?)dup
|
|
|
NC_000009.12:g.(?_136434037)_(136457584_?)dup
|
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|
NC_000010.10:g.(?_28101421)_(28101574_?)dup
|
|
|
NC_000010.10:g.(?_28101421)_(28250664_?)dup
|
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|
NC_000010.10:g.(?_97440209)_(97440386_?)del
|
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|
NC_000010.10:g.(?_97442388)_(97516032_?)dup
|
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|
NC_000011.10:g.(?_103282179)_(103282229_?)del
|
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|
NC_000011.10:g.(?_103479075)_(103479273_?)dup
|
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|
NC_000011.9:g.(?_102980304)_(103194738_?)dup
|
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|
NC_000011.9:g.(?_102980304)_(103349981_?)dup
|
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|
NC_000011.9:g.(?_103228951)_(103229107_?)del
|
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|
NC_000011.9:g.(?_103325894)_(103349981_?)dup
|
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|
NC_000011.9:g.(?_103349803)_(103349981_?)dup
|
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|
NC_000011.9:g.(?_117209303)_(117222724_?)dup
|
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|
NC_000011.9:g.(?_117209303)_(117234242_?)dup
|
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|
NC_000011.9:g.(?_117232531)_(117233274_?)del
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|
NC_000011.9:g.(?_117233107)_117234066del
|
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|
NC_000011.9:g.(?_117261473)_(117342771_?)dup
|
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|
NC_000011.9:g.(?_117278705)_(117284975_?)del
|
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|
NC_000011.9:g.(?_61165722)_(61197674_?)dup
|
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|
NC_000011.9:g.(?_66278131)_(66278730_?)dup
|
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|
NC_000012.11:g.(?_124114696)_(124192260_?)dup
|
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|
NC_000012.11:g.(?_124158142)_(124163856_?)dup
|
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|
NC_000012.11:g.(?_124177185)_(124177290_?)del
|
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|
NC_000012.11:g.(?_124192131)_(124192260_?)del
|
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|
NC_000012.11:g.(?_76739593)_(76742138_?)dup
|
|
|
NC_000012.11:g.(?_88442955)_(88449500_?)dup
|
|
|
NC_000012.11:g.(?_88442961)_(88449494_?)dup
|
|
|
NC_000012.11:g.(?_88532902)_(88533361_?)del
|
|
|
NC_000012.12:g.(?_123671221)_(123707733_?)dup
|
|
|
NC_000012.12:g.(?_123692638)_(123707733_?)dup
|
|
|
NC_000014.8:g.(?_50050385)_(50118115_?)dup
|
|
|
NC_000014.8:g.(?_58894347)_(58894375_?)del
|
|
|
NC_000014.8:g.(?_58894347)_(58899195_?)dup
|
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|
NC_000014.8:g.(?_58894347)_(59014694_?)dup
|
|
|
NC_000014.8:g.(?_58910652)_(58910913_?)del
|
|
|
NC_000014.8:g.(?_59010581)_(59014694_?)dup
|
|
|
NC_000014.8:g.(?_74111723)_(74727642_?)dup
|
|
|
NC_000014.8:g.(?_88852143)_(89343774_?)dup
|
|
|
NC_000014.8:g.(?_89291052)_(89305916_?)dup
|
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|
NC_000014.8:g.(?_89291052)_(89343754_?)dup
|
|
|
NC_000014.8:g.(?_89319295)_(89323641_?)del
|
|
|
NC_000014.8:g.(?_89327546)_(89327696_?)del
|
|
|
NC_000014.9:g.(?_73671542)_(73671597_?)del
|
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|
NC_000015.10:g.(?_72676034)_(72704515_?)dup
|
|
|
NC_000015.9:g.(?_72978549)_(73029948_?)dup
|
|
|
NC_000015.9:g.(?_72978569)_(75190071_?)dup
|
|
|
NC_000015.9:g.(?_90171650)_(90196161_?)dup
|
|
|
NC_000016.10:g.(?_1485939)_(1511150_?)del
|
|
|
NC_000016.10:g.(?_90035613)_(90043365_?)dup
|
|
|
NC_000016.10:g.(?_90040280)_(90043365_?)del
|
|
|
NC_000016.9:g.(?_1496632)_(1561171_?)dup
|
|
|
NC_000016.9:g.(?_1607916)_(1618355_?)dup
|
|
|
NC_000016.9:g.(?_1639586)_(1642609_?)del
|
|
|
NC_000016.9:g.(?_256302)_(4852572_?)dup
|
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|
NC_000016.9:g.(?_53635988)_(53656288_?)del
|
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|
NC_000016.9:g.(?_53635988)_(54967785_?)dup
|
|
|
NC_000016.9:g.(?_53656111)_(53656288_?)dup
|
|
|
NC_000016.9:g.(?_75573892)_(75574092_?)del
|
|
|
NC_000016.9:g.(?_75573892)_(75579872_?)dup
|
|
|
NC_000016.9:g.(?_75579704)_(75590169_?)dup
|
|
|
NC_000016.9:g.(?_75589682)_(75690509_?)dup
|
|
|
NC_000016.9:g.(?_83932750)_(84211465_?)dup
|
|
|
NC_000016.9:g.(?_87636753)_(90109753_?)dup
|
|
|
NC_000016.9:g.(?_90089110)_(90109773_?)dup
|
|
|
NC_000016.9:g.(?_90089130)_(90106937_?)dup
|
|
|
NC_000016.9:g.(?_90094024)_(90094150_?)del
|
|
|
NC_000016.9:g.(?_90094024)_(90099352_?)dup
|
|
|
NC_000016.9:g.(?_90094024)_(90109753_?)dup
|
|
|
NC_000016.9:g.(?_90102021)_(90106937_?)del
|
|
|
NC_000016.9:g.(?_90106688)_(90109753_?)dup
|
|
|
NC_000016.9:g.(?_90108858)_(90109753_?)dup
|
|
|
NC_000016.9:g.(?_90108858)_(90109773_?)dup
|
|
|
NC_000017.10:g.(?_16842861)_(19578885_?)dup
|
|
|
NC_000017.10:g.(?_19263613)_(19265882_?)dup
|
|
|
NC_000017.10:g.(?_54671585)_(59938900_?)dup
|
|
|
NC_000017.10:g.(?_72277937)_(72310375_?)dup
|
|
|
NC_000017.10:g.(?_72277946)_(72310410_?)dup
|
|
|
NC_000017.10:g.(?_72277957)_(72310355_?)dup
|
|
|
NC_000017.10:g.(?_78071024)_(78073574_?)dup
|
|
|
NC_000017.10:g.(?_78071024)_(78073594_?)dup
|
|
|
NC_000017.10:g.(?_78071044)_(78074412_?)dup
|
|
|
NC_000017.11:g.(?_58206283)_(58206581_?)del
|
|
|
NC_000017.11:g.(?_80085983)_(80095471_?)dup
|
|
|
NC_000019.10:g.(?_48296956)_(48312136_?)dup
|
|
|
NC_000019.9:g.(?_41854180)_(41869424_?)dup
|
|
|
NC_000019.9:g.(?_48800233)_(48809600_?)del
|
|
|
NC_000019.9:g.(?_55663202)_(55678016_?)dup
|
|
|
NC_000019.9:g.(?_55670410)_(55678036_?)dup
|
|
|
NC_000020.10:g.(?_10256140)_(10654178_?)dup
|
|
|
NC_000021.8:g.(?_43160998)_(47865240_?)dup
|
|
|
NC_000021.8:g.(?_43892908)_(44592410_?)dup
|
|
|
NC_000021.8:g.(?_43892908)_(45629566_?)dup
|
|
|
NC_000021.8:g.(?_43892928)_(43893000_?)dup
|
|
|
NC_000023.10:g.(?_13732526)_(13762658_?)dup
|
|
|
NC_000023.10:g.(?_13734103)_(13787227_?)dup
|
|
|
NC_000023.10:g.(?_13753080)_(13754816_?)dup
|
|
|
NC_000023.10:g.(?_13753185)_(13787232_?)dup
|
|
|
NC_000023.10:g.(?_37545209)_(38186626_?)dup
|
|
|
NC_000023.10:g.(?_38146328)_(38150297_?)del
|
|
|
NC_000023.10:g.(?_38156517)_(38240702_?)dup
|
|
|
NC_000023.10:g.(?_38169848)_(38182797_?)dup
|
|
|
NC_000023.10:g.(?_38176549)_(38215080_?)dup
|
|
|
NC_000023.11:g.(?_38269606)_(38269852_?)dup
|
|
|
NC_000023.11:g.(?_38269606)_(38310793_?)dup
|
|
|
NM_000328.2(RPGR):c.-168-?_*456+?dup
|
|
|
NM_000328.3(RPGR):c.1906-12A>G
|
|
|
NM_000328.3(RPGR):c.1949T>C (p.Val650Ala)
|
|
|
NM_000328.3(RPGR):c.1996G>C (p.Val666Leu)
|
rs2147169038
|
|
NM_000328.3(RPGR):c.1999G>A (p.Gly667Arg)
|
|
|
NM_000328.3(RPGR):c.2009A>G (p.Glu670Gly)
|
|
|
NM_000328.3(RPGR):c.2012G>A (p.Ser671Asn)
|
|
|
NM_000328.3(RPGR):c.2023G>A (p.Gly675Ser)
|
|
|
NM_000328.3(RPGR):c.2072C>T (p.Ser691Leu)
|
|
|
NM_000328.3(RPGR):c.2087A>G (p.Glu696Gly)
|
|
|
NM_000328.3(RPGR):c.2102C>T (p.Ala701Val)
|
|
|
NM_000328.3(RPGR):c.2117G>A (p.Arg706Gln)
|
|
|
NM_000328.3(RPGR):c.2120C>T (p.Ala707Val)
|
|
|
NM_000328.3(RPGR):c.2135A>G (p.Asn712Ser)
|
|
|
NM_000328.3(RPGR):c.2149+4T>G
|
rs945212131
|
|
NM_000328.3(RPGR):c.2150-7A>G
|
|
|
NM_000328.3(RPGR):c.2156T>G (p.Met719Arg)
|
rs1399519309
|
|
NM_000328.3(RPGR):c.2224A>G (p.Met742Val)
|
|
|
NM_000328.3(RPGR):c.2241+11_2241+12delinsCC
|
|
|
NM_000328.3(RPGR):c.2241+5G>A
|
|
|
NM_000328.3(RPGR):c.2241G>A (p.Lys747=)
|
|
|
NM_000328.3(RPGR):c.2336T>C (p.Ile779Thr)
|
|
|
NM_000328.3(RPGR):c.2339T>C (p.Ile780Thr)
|
|
|
NM_000328.3(RPGR):c.2339T>G (p.Ile780Ser)
|
|
|
NM_001006657.2(WDR35):c.1227G>A (p.Thr409=)
|
|
|
NM_001009894.3(RLIG1):c.*995A>C
|
|
|
NM_001010892.3(RSPH4A):c.104C>A (p.Ser35Tyr)
|
|
|
NM_001010892.3(RSPH4A):c.110C>G (p.Pro37Arg)
|
rs2115350900
|
|
NM_001010892.3(RSPH4A):c.111_125del (p.Glu38_Pro42del)
|
rs776700072
|
|
NM_001010892.3(RSPH4A):c.1165G>A (p.Glu389Lys)
|
|
|
NM_001010892.3(RSPH4A):c.1193C>T (p.Ala398Val)
|
|
|
NM_001010892.3(RSPH4A):c.1237G>A (p.Ala413Thr)
|
|
|
NM_001010892.3(RSPH4A):c.1268G>A (p.Arg423Lys)
|
rs2115361973
|
|
NM_001010892.3(RSPH4A):c.1370A>G (p.Lys457Arg)
|
|
|
NM_001010892.3(RSPH4A):c.145C>A (p.Pro49Thr)
|
rs983632022
|
|
NM_001010892.3(RSPH4A):c.1487A>C (p.His496Pro)
|
|
|
NM_001010892.3(RSPH4A):c.1514T>C (p.Phe505Ser)
|
rs565491418
|
|
NM_001010892.3(RSPH4A):c.152C>G (p.Thr51Ser)
|
rs373900879
|
|
NM_001010892.3(RSPH4A):c.1564A>G (p.Ser522Gly)
|
rs977234347
|
|
NM_001010892.3(RSPH4A):c.1628A>G (p.Asn543Ser)
|
|
|
NM_001010892.3(RSPH4A):c.1641T>G (p.His547Gln)
|
rs201238941
|
|
NM_001010892.3(RSPH4A):c.1704AGA[2] (p.Glu573del)
|
rs757198203
|
|
NM_001010892.3(RSPH4A):c.1705G>A (p.Glu569Lys)
|
|
|
NM_001010892.3(RSPH4A):c.1716AGA[1] (p.Glu573del)
|
rs370030988
|
|
NM_001010892.3(RSPH4A):c.1814C>G (p.Pro605Arg)
|
|
|
NM_001010892.3(RSPH4A):c.1817C>G (p.Pro606Arg)
|
rs138413282
|
|
NM_001010892.3(RSPH4A):c.1858G>C (p.Ala620Pro)
|
rs1775776988
|
|
NM_001010892.3(RSPH4A):c.1867G>A (p.Val623Ile)
|
rs1562392873
|
|
NM_001010892.3(RSPH4A):c.1917-2A>C
|
|
|
NM_001010892.3(RSPH4A):c.2011A>G (p.Ser671Gly)
|
|
|
NM_001010892.3(RSPH4A):c.203A>G (p.Lys68Arg)
|
rs748597085
|
|
NM_001010892.3(RSPH4A):c.2055G>C (p.Glu685Asp)
|
rs2115368533
|
|
NM_001010892.3(RSPH4A):c.2071G>A (p.Ala691Thr)
|
rs2115368553
|
|
NM_001010892.3(RSPH4A):c.2095G>A (p.Ala699Thr)
|
rs372304999
|
|
NM_001010892.3(RSPH4A):c.2127A>C (p.Glu709Asp)
|
rs1215996303
|
|
NM_001010892.3(RSPH4A):c.224C>T (p.Ala75Val)
|
|
|
NM_001010892.3(RSPH4A):c.266A>G (p.Glu89Gly)
|
|
|
NM_001010892.3(RSPH4A):c.281C>T (p.Pro94Leu)
|
rs1397332406
|
|
NM_001010892.3(RSPH4A):c.296C>T (p.Pro99Leu)
|
rs1775514576
|
|
NM_001010892.3(RSPH4A):c.335_337delinsTAC (p.Arg112_Thr113delinsIlePro)
|
rs2115351269
|
|
NM_001010892.3(RSPH4A):c.389A>G (p.Gln130Arg)
|
|
|
NM_001010892.3(RSPH4A):c.413C>A (p.Thr138Asn)
|
|
|
NM_001010892.3(RSPH4A):c.461A>G (p.Gln154Arg)
|
rs1775520006
|
|
NM_001010892.3(RSPH4A):c.46G>C (p.Glu16Gln)
|
|
|
NM_001010892.3(RSPH4A):c.511G>C (p.Ala171Pro)
|
|
|
NM_001010892.3(RSPH4A):c.512C>T (p.Ala171Val)
|
|
|
NM_001010892.3(RSPH4A):c.586G>A (p.Ala196Thr)
|
rs1436446801
|
|
NM_001010892.3(RSPH4A):c.613A>G (p.Ser205Gly)
|
|
|
NM_001010892.3(RSPH4A):c.646G>T (p.Ala216Ser)
|
rs1390787423
|
|
NM_001010892.3(RSPH4A):c.667A>G (p.Ser223Gly)
|
rs1775525747
|
|
NM_001010892.3(RSPH4A):c.716A>G (p.Lys239Arg)
|
|
|
NM_001010892.3(RSPH4A):c.764T>C (p.Ile255Thr)
|
|
|
NM_001010892.3(RSPH4A):c.782T>C (p.Met261Thr)
|
|
|
NM_001010892.3(RSPH4A):c.814C>G (p.Gln272Glu)
|
|
|
NM_001010892.3(RSPH4A):c.833T>G (p.Leu278Arg)
|
rs1406041200
|
|
NM_001010892.3(RSPH4A):c.84A>G (p.Thr28=)
|
rs1775508382
|
|
NM_001010892.3(RSPH4A):c.91_92delinsCT (p.Ser31Leu)
|
rs863224690
|
|
NM_001010892.3(RSPH4A):c.922-11T>G
|
|
|
NM_001010892.3(RSPH4A):c.931G>A (p.Ala311Thr)
|
rs1330301417
|
|
NM_001010892.3(RSPH4A):c.943G>A (p.Val315Ile)
|
|
|
NM_001010892.3(RSPH4A):c.961T>A (p.Tyr321Asn)
|
|
|
NM_001034853.2(RPGR):c.1001T>C (p.Phe334Ser)
|
|
|
NM_001034853.2(RPGR):c.1007A>G (p.Asn336Ser)
|
|
|
NM_001034853.2(RPGR):c.1019C>A (p.Pro340His)
|
|
|
NM_001034853.2(RPGR):c.107T>C (p.Val36Ala)
|
|
|
NM_001034853.2(RPGR):c.1097CTC[1] (p.Pro367del)
|
rs1357261084
|
|
NM_001034853.2(RPGR):c.1099C>T (p.Pro367Ser)
|
|
|
NM_001034853.2(RPGR):c.109C>T (p.Pro37Ser)
|
|
|
NM_001034853.2(RPGR):c.1123A>G (p.Ile375Val)
|
|
|
NM_001034853.2(RPGR):c.1132G>A (p.Asp378Asn)
|
rs866428513
|
|
NM_001034853.2(RPGR):c.1147A>T (p.Thr383Ser)
|
|
|
NM_001034853.2(RPGR):c.1201G>T (p.Val401Leu)
|
|
|
NM_001034853.2(RPGR):c.1208A>G (p.Gln403Arg)
|
|
|
NM_001034853.2(RPGR):c.1220C>T (p.Ser407Leu)
|
|
|
NM_001034853.2(RPGR):c.1226G>A (p.Arg409His)
|
|
|
NM_001034853.2(RPGR):c.1235G>A (p.Arg412Gln)
|
|
|
NM_001034853.2(RPGR):c.1238G>A (p.Arg413Lys)
|
|
|
NM_001034853.2(RPGR):c.1245G>A (p.Arg415=)
|
|
|
NM_001034853.2(RPGR):c.1246-10T>C
|
|
|
NM_001034853.2(RPGR):c.1246-3A>G
|
|
|
NM_001034853.2(RPGR):c.1256C>A (p.Pro419Gln)
|
|
|
NM_001034853.2(RPGR):c.125G>A (p.Cys42Tyr)
|
|
|
NM_001034853.2(RPGR):c.125G>T (p.Cys42Phe)
|
|
|
NM_001034853.2(RPGR):c.1286C>T (p.Pro429Leu)
|
rs2067408372
|
|
NM_001034853.2(RPGR):c.128G>A (p.Gly43Glu)
|
rs62638630
|
|
NM_001034853.2(RPGR):c.1320T>C (p.Cys440=)
|
|
|
NM_001034853.2(RPGR):c.1331A>G (p.Asn444Ser)
|
rs756926974
|
|
NM_001034853.2(RPGR):c.134A>T (p.Glu45Val)
|
rs2147291597
|
|
NM_001034853.2(RPGR):c.1381T>C (p.Ser461Pro)
|
|
|
NM_001034853.2(RPGR):c.1393C>G (p.Leu465Val)
|
|
|
NM_001034853.2(RPGR):c.1396A>G (p.Met466Val)
|
|
|
NM_001034853.2(RPGR):c.1398G>A (p.Met466Ile)
|
rs1237734243
|
|
NM_001034853.2(RPGR):c.1415-3C>G
|
|
|
NM_001034853.2(RPGR):c.1445C>T (p.Ala482Val)
|
|
|
NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val)
|
rs2147212880
|
|
NM_001034853.2(RPGR):c.1484A>G (p.Glu495Gly)
|
|
|
NM_001034853.2(RPGR):c.1486A>C (p.Thr496Pro)
|
|
|
NM_001034853.2(RPGR):c.1490C>T (p.Thr497Ile)
|
rs2067277205
|
|
NM_001034853.2(RPGR):c.1493A>G (p.Asp498Gly)
|
|
|
NM_001034853.2(RPGR):c.1500A>C (p.Leu500Phe)
|
|
|
NM_001034853.2(RPGR):c.1505T>C (p.Met502Thr)
|
|
|
NM_001034853.2(RPGR):c.1506+3A>G
|
rs2147212763
|
|
NM_001034853.2(RPGR):c.1519A>G (p.Ser507Gly)
|
|
|
NM_001034853.2(RPGR):c.151A>G (p.Thr51Ala)
|
|
|
NM_001034853.2(RPGR):c.1532A>T (p.Asn511Ile)
|
|
|
NM_001034853.2(RPGR):c.1572+6del
|
|
|
NM_001034853.2(RPGR):c.1573-18_1573-15del
|
|
|
NM_001034853.2(RPGR):c.1573-3C>G
|
rs1601926845
|
|
NM_001034853.2(RPGR):c.158A>G (p.Asn53Ser)
|
|
|
NM_001034853.2(RPGR):c.1595T>G (p.Leu532Arg)
|
rs2147203710
|
|
NM_001034853.2(RPGR):c.1597A>G (p.Thr533Ala)
|
|
|
NM_001034853.2(RPGR):c.1600C>G (p.Gln534Glu)
|
|
|
NM_001034853.2(RPGR):c.1650G>A (p.Met550Ile)
|
|
|
NM_001034853.2(RPGR):c.1657A>G (p.Met553Val)
|
|
|
NM_001034853.2(RPGR):c.1680ACA[1] (p.Gln561del)
|
rs1208778002
|
|
NM_001034853.2(RPGR):c.1686T>G (p.His562Gln)
|
|
|
NM_001034853.2(RPGR):c.1693C>G (p.Gln565Glu)
|
|
|
NM_001034853.2(RPGR):c.1707G>T (p.Met569Ile)
|
|
|
NM_001034853.2(RPGR):c.1749A>G (p.Glu583=)
|
rs1060501179
|
|
NM_001034853.2(RPGR):c.1754-2dup
|
rs2067203496
|
|
NM_001034853.2(RPGR):c.1754-3C>G
|
rs2147201026
|
|
NM_001034853.2(RPGR):c.1754-7T>G
|
|
|
NM_001034853.2(RPGR):c.1762GAG[1] (p.Glu589del)
|
|
|
NM_001034853.2(RPGR):c.1768A>G (p.Lys590Glu)
|
|
|
NM_001034853.2(RPGR):c.1826A>G (p.Asn609Ser)
|
rs1555961989
|
|
NM_001034853.2(RPGR):c.1841A>C (p.Lys614Thr)
|
|
|
NM_001034853.2(RPGR):c.1859A>G (p.Lys620Arg)
|
|
|
NM_001034853.2(RPGR):c.193G>T (p.Gly65Cys)
|
|
|
NM_001034853.2(RPGR):c.1946A>G (p.Asp649Gly)
|
|
|
NM_001034853.2(RPGR):c.1946A>T (p.Asp649Val)
|
|
|
NM_001034853.2(RPGR):c.1948G>A (p.Gly650Arg)
|
|
|
NM_001034853.2(RPGR):c.1957G>A (p.Gly653Ser)
|
|
|
NM_001034853.2(RPGR):c.1987A>G (p.Ser663Gly)
|
|
|
NM_001034853.2(RPGR):c.202G>A (p.Gly68Arg)
|
|
|
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg)
|
rs1601982516
|
|
NM_001034853.2(RPGR):c.2039A>G (p.Asp680Gly)
|
|
|
NM_001034853.2(RPGR):c.203G>A (p.Gly68Glu)
|
|
|
NM_001034853.2(RPGR):c.2053G>C (p.Glu685Gln)
|
|
|
NM_001034853.2(RPGR):c.2056A>G (p.Met686Val)
|
|
|
NM_001034853.2(RPGR):c.2086C>G (p.Leu696Val)
|
|
|
NM_001034853.2(RPGR):c.2094G>T (p.Glu698Asp)
|
|
|
NM_001034853.2(RPGR):c.2188_2189dup (p.Gly731fs)
|
|
|
NM_001034853.2(RPGR):c.2192G>C (p.Gly731Ala)
|
|
|
NM_001034853.2(RPGR):c.2203C>T (p.His735Tyr)
|
|
|
NM_001034853.2(RPGR):c.2203_2226del (p.His735_Glu742del)
|
rs768423834
|
|
NM_001034853.2(RPGR):c.2215G>A (p.Glu739Lys)
|
|
|
NM_001034853.2(RPGR):c.2222AGG[1] (p.Glu742del)
|
|
|
NM_001034853.2(RPGR):c.2291_2293del (p.Val764del)
|
|
|
NM_001034853.2(RPGR):c.2302C>T (p.Arg768Cys)
|
|
|
NM_001034853.2(RPGR):c.2303G>A (p.Arg768His)
|
|
|
NM_001034853.2(RPGR):c.2310GGA[1] (p.Glu772del)
|
|
|
NM_001034853.2(RPGR):c.2327A>G (p.Lys776Arg)
|
|
|
NM_001034853.2(RPGR):c.2342C>T (p.Ala781Val)
|
|
|
NM_001034853.2(RPGR):c.2360_2362del (p.Gly787del)
|
rs1287687440
|
|
NM_001034853.2(RPGR):c.2366AAG[1] (p.Glu790del)
|
|
|
NM_001034853.2(RPGR):c.2389_2409del (p.Glu797_Gly803del)
|
|
|
NM_001034853.2(RPGR):c.2399A>G (p.Glu800Gly)
|
|
|
NM_001034853.2(RPGR):c.2407G>A (p.Gly803Arg)
|
|
|
NM_001034853.2(RPGR):c.2408G>A (p.Gly803Glu)
|
|
|
NM_001034853.2(RPGR):c.2425G>C (p.Glu809Gln)
|
|
|
NM_001034853.2(RPGR):c.2426AGG[1] (p.Glu810del)
|
rs745480662
|
|
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[3] (p.Glu820_Glu821insGlyGlyGluValGlu)
|
|
|
NM_001034853.2(RPGR):c.2449G>A (p.Gly817Arg)
|
|
|
NM_001034853.2(RPGR):c.2464G>A (p.Gly822Arg)
|
|
|
NM_001034853.2(RPGR):c.2465G>A (p.Gly822Glu)
|
|
|
NM_001034853.2(RPGR):c.247+5G>T
|
|
|
NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter)
|
rs2067179538
|
|
NM_001034853.2(RPGR):c.247G>T (p.Ala83Ser)
|
|
|
NM_001034853.2(RPGR):c.2481AGAGGA[1] (p.Glu831_Glu832del)
|
|
|
NM_001034853.2(RPGR):c.2487_2520delinsGGAGGAGGGT (p.Glu832_Glu839del)
|
|
|
NM_001034853.2(RPGR):c.2489AGG[2] (p.Glu832del)
|
|
|
NM_001034853.2(RPGR):c.2495_2520delinsGT (p.Glu832_Glu839del)
|
|
|
NM_001034853.2(RPGR):c.2496_2516del (p.829EEEEGEG[3])
|
|
|
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[4] (p.Gly856_Lys857insGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGly)
|
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NM_001034853.2(RPGR):c.2520_2561del (p.829EEEEGEG[2])
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NM_001034853.2(RPGR):c.2525_2578dup (p.Glu859_Glu860insGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGlu)
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NM_001034853.2(RPGR):c.2527G>A (p.Glu843Lys)
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NM_001034853.2(RPGR):c.2539G>A (p.Gly847Arg)
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rs1454586504
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NM_001034853.2(RPGR):c.2557G>A (p.Glu853Lys)
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NM_001034853.2(RPGR):c.2564A>G (p.Glu855Gly)
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NM_001034853.2(RPGR):c.2566G>A (p.Gly856Arg)
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NM_001034853.2(RPGR):c.2577GGAAGAAGG[1] (p.861EGE[1])
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NM_001034853.2(RPGR):c.2589_2603del (p.Gly865_Glu869del)
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NM_001034853.2(RPGR):c.2594_2596del (p.Gly865del)
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rs771584745
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NM_001034853.2(RPGR):c.2595_2612del (p.Gly867_Glu872del)
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NM_001034853.2(RPGR):c.2598_2599insCGGGAGGAAGAAGGGGAGGAAGGAGAA (p.Glu866_Gly867insArgGluGluGluGlyGluGluGlyGlu)
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NM_001034853.2(RPGR):c.2606A>G (p.Glu869Gly)
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NM_001034853.2(RPGR):c.2609A>G (p.Glu870Gly)
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NM_001034853.2(RPGR):c.2612G>A (p.Gly871Glu)
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NM_001034853.2(RPGR):c.2618_2632del (p.Glu873_Glu877del)
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NM_001034853.2(RPGR):c.2618_2632dup (p.Glu877_Gly878insGluGlyGluGlyGlu)
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NM_001034853.2(RPGR):c.2621_2623del (p.Gly874del)
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NM_001034853.2(RPGR):c.2633_2640delinsAAGAAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAA (p.Gly878_Glu879delinsGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGly)
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NM_001034853.2(RPGR):c.2634_2684del (p.886EGEEEGEGEGEEEEGEG[1])
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NM_001034853.2(RPGR):c.2640GGA[1] (p.Glu882del)
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NM_001034853.2(RPGR):c.2646AGGAGAAGGGGAGGGAGAAGAGGA[1] (p.883GEGEGEEE[1])
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NM_001034853.2(RPGR):c.2653G>A (p.Gly885Arg)
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NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[1] (p.886EGEEEGEGEGEEEEGEG[1])
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NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[3] (p.Gly919_Lys920insGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly)
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NM_001034853.2(RPGR):c.2660G>A (p.Gly887Glu)
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NM_001034853.2(RPGR):c.2666_2671del (p.Glu889_Glu890del)
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NM_001034853.2(RPGR):c.2667GGAAGGAGAAGGGGAGGGAGAAGAGGA[1] (p.890EGEGEGEEE[1])
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NM_001034853.2(RPGR):c.2667GGAAGGAGAAGGGGAGGGAGAAGAGGA[3] (p.Glu907_Gly908insGluGlyGluGlyGluGlyGluGluGlu)
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NM_001034853.2(RPGR):c.2678G>T (p.Gly893Val)
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NM_001034853.2(RPGR):c.2680_2757dup (p.Gly919_Lys920insGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly)
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NM_001034853.2(RPGR):c.2682_2696del (p.Glu897_Glu901del)
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NM_001034853.2(RPGR):c.2684G>A (p.Gly895Glu)
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NM_001034853.2(RPGR):c.2686G>A (p.Glu896Lys)
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NM_001034853.2(RPGR):c.2693A>G (p.Glu898Gly)
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NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[1] (p.900GEGEGEEE[1])
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NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3])
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rs757402645
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NM_001034853.2(RPGR):c.2720A>G (p.Glu907Gly)
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NM_001034853.2(RPGR):c.2725_2757dup (p.Gly919_Lys920insGluGlyGluGlyGluGluGluGluGlyGluGly)
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NM_001034853.2(RPGR):c.2729G>T (p.Gly910Val)
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NM_001034853.2(RPGR):c.2731_2757del (p.Glu911_Gly919del)
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NM_001034853.2(RPGR):c.2733_2819dup (p.Glu942_Asp943insGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGlu)
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NM_001034853.2(RPGR):c.2747_2749del (p.Glu916del)
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NM_001034853.2(RPGR):c.2750_2752del (p.Gly917del)
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NM_001034853.2(RPGR):c.2763GGA[2] (p.Glu924del)
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rs2067156760
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NM_001034853.2(RPGR):c.2767G>A (p.Glu923Lys)
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NM_001034853.2(RPGR):c.2774_2776del (p.Gly925del)
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NM_001034853.2(RPGR):c.2778_2813dup (p.Glu938_Gly939insGluGlyGluGlyGluGlyGluGluGluGluGlyGlu)
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NM_001034853.2(RPGR):c.277G>T (p.Ala93Ser)
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NM_001034853.2(RPGR):c.2782G>A (p.Gly928Arg)
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NM_001034853.2(RPGR):c.2784_2789del (p.928GE[2])
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NM_001034853.2(RPGR):c.2790_2810del (p.Glu934_Glu940del)
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NM_001034853.2(RPGR):c.2802GGA[1] (p.Glu936del)
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rs1238945219
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NM_001034853.2(RPGR):c.2803G>A (p.Glu935Lys)
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NM_001034853.2(RPGR):c.2805_2906del (p.Glu936_Glu969del)
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NM_001034853.2(RPGR):c.2810_2812del (p.Gly937del)
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NM_001034853.2(RPGR):c.2811_2816del (p.937GE[2])
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NM_001034853.2(RPGR):c.2815_2862del (p.Gly939_Glu954del)
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rs1569236115
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NM_001034853.2(RPGR):c.2820AGGGGAGGATGGAGAAGGGGA[3] (p.Glu949_Glu950insAspGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGlu)
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NM_001034853.2(RPGR):c.2820_2821insAGGGAGGATGGAGAAGGGGAA (p.Glu940_Gly941insArgGluAspGlyGluGlyGlu)
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NM_001034853.2(RPGR):c.2829T>A (p.Asp943Glu)
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NM_001034853.2(RPGR):c.2835_2840dup (p.Glu949_Glu950insGlyGlu)
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NM_001034853.2(RPGR):c.2836G>T (p.Gly946Trp)
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NM_001034853.2(RPGR):c.2840_2841insAGGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGA (p.Glu949_Glu950insAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGlu)
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NM_001034853.2(RPGR):c.2841_2863delinsAGGGGAGGATGGAGAAG (p.Glu950_Trp955delinsAspGlyGluGly)
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NM_001034853.2(RPGR):c.2845G>A (p.Glu949Lys)
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NM_001034853.2(RPGR):c.2847_2856delinsGGAT (p.Glu950_Glu952delinsAsp)
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NM_001034853.2(RPGR):c.2850GGA[1] (p.Glu952del)
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NM_001034853.2(RPGR):c.2852A>G (p.Glu951Gly)
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NM_001034853.2(RPGR):c.2854G>A (p.Glu952Lys)
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NM_001034853.2(RPGR):c.2863_2889dup (p.Glu963_Gly964insTrpGluGlyGluGluGluGluGlyGlu)
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NM_001034853.2(RPGR):c.2875_2876insGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAG (p.944_958GE[3]EEEGEWEGEGEEGEGEGEEEEGEWEGE[1])
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rs1569236068
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NM_001034853.2(RPGR):c.2876A>G (p.Glu959Gly)
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NM_001034853.2(RPGR):c.2877GGA[1] (p.Glu961del)
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NM_001034853.2(RPGR):c.287G>A (p.Arg96Lys)
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rs2147285696
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NM_001034853.2(RPGR):c.29-3C>T
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NM_001034853.2(RPGR):c.2904_2906dup (p.Glu969_Gly970insGlu)
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NM_001034853.2(RPGR):c.2906_2907insGGAAGGAGAATGGGAGGGGGAAGAGGA (p.Glu969_Gly970insGluGlyGluTrpGluGlyGluGluGlu)
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NM_001034853.2(RPGR):c.2914G>A (p.Gly972Arg)
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NM_001034853.2(RPGR):c.2921_2947dup (p.Glu982_Glu983insGlyGluGluGlyGluGlyGluGlyGlu)
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NM_001034853.2(RPGR):c.2927_2941del (p.971EGEGE[1])
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NM_001034853.2(RPGR):c.2931AGAAGGGGAGGGGGAAGAGGAGGAAGG[1] (p.979GEGEEEEGE[1])
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NM_001034853.2(RPGR):c.2933A>G (p.Glu978Gly)
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NM_001034853.2(RPGR):c.2935G>T (p.Gly979Trp)
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NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGAAGGGGA (p.Glu984_Glu985insGlyGluGlyGluGluGlu)
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NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGA (p.Glu983_Glu984insGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGlu)
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NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGA (p.Glu983_Glu984insGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGlu)
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NM_001034853.2(RPGR):c.2946_2951del (p.Glu984_Glu985del)
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rs767210576
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NM_001034853.2(RPGR):c.2962G>A (p.Gly988Arg)
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NM_001034853.2(RPGR):c.2976_2990del (p.989EGEEE[1])
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rs761365864
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NM_001034853.2(RPGR):c.2986G>A (p.Glu996Lys)
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NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del)
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rs1356107537
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NM_001034853.2(RPGR):c.2988_2999dup (p.Glu1004_Gly1005insGluGluGlyGlu)
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NM_001034853.2(RPGR):c.2997_3008del (p.993EEGE[2])
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NM_001034853.2(RPGR):c.3002AAG[1] (p.Glu1002del)
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NM_001034853.2(RPGR):c.3008_3010del (p.Gly1003del)
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NM_001034853.2(RPGR):c.3018G>C (p.Glu1006Asp)
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NM_001034853.2(RPGR):c.3020AAG[1] (p.Glu1008del)
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NM_001034853.2(RPGR):c.3020_3031del (p.Glu1007_Glu1010del)
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NM_001034853.2(RPGR):c.3022G>A (p.Glu1008Lys)
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NM_001034853.2(RPGR):c.3032_3043del (p.1009GE[1])
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NM_001034853.2(RPGR):c.3044A>G (p.Glu1015Gly)
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NM_001034853.2(RPGR):c.3051_3065del (p.Glu1018_Glu1022del)
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NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[3] (p.Glu1028_Glu1029insValGluGlyGlu)
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NM_001034853.2(RPGR):c.3070G>C (p.Glu1024Gln)
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NM_001034853.2(RPGR):c.3071A>G (p.Glu1024Gly)
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NM_001034853.2(RPGR):c.308C>T (p.Thr103Ile)
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rs2147285611
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NM_001034853.2(RPGR):c.3095_3106del (p.1030GE[1])
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NM_001034853.2(RPGR):c.310+3A>G
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rs62638640
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NM_001034853.2(RPGR):c.3143AGG[1] (p.Glu1049del)
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NM_001034853.2(RPGR):c.3149G>A (p.Gly1050Glu)
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NM_001034853.2(RPGR):c.3167GGA[1] (p.Arg1057del)
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NM_001034853.2(RPGR):c.3172A>G (p.Asn1058Asp)
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NM_001034853.2(RPGR):c.3186G>C (p.Glu1062Asp)
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NM_001034853.2(RPGR):c.3199G>A (p.Gly1067Arg)
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NM_001034853.2(RPGR):c.3266G>A (p.Ser1089Asn)
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NM_001034853.2(RPGR):c.3271A>G (p.Ile1091Val)
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NM_001034853.2(RPGR):c.3317A>T (p.Lys1106Met)
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NM_001034853.2(RPGR):c.3342T>G (p.Asn1114Lys)
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NM_001034853.2(RPGR):c.3351G>C (p.Glu1117Asp)
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NM_001034853.2(RPGR):c.3377C>T (p.Ser1126Leu)
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NM_001034853.2(RPGR):c.3396C>A (p.Asn1132Lys)
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NM_001034853.2(RPGR):c.3396del (p.Asn1132fs)
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NM_001034853.2(RPGR):c.3397G>A (p.Gly1133Arg)
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NM_001034853.2(RPGR):c.3416A>C (p.Lys1139Thr)
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NM_001034853.2(RPGR):c.3423G>A (p.Trp1141Ter)
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NM_001034853.2(RPGR):c.344A>G (p.Asn115Ser)
|
rs2147280549
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NM_001034853.2(RPGR):c.353A>C (p.Gln118Pro)
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NM_001034853.2(RPGR):c.354G>C (p.Gln118His)
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rs2147280538
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NM_001034853.2(RPGR):c.356T>C (p.Leu119Ser)
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NM_001034853.2(RPGR):c.369C>G (p.Asp123Glu)
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rs2147280505
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NM_001034853.2(RPGR):c.38C>T (p.Ala13Val)
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NM_001034853.2(RPGR):c.392A>G (p.His131Arg)
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NM_001034853.2(RPGR):c.397A>T (p.Ile133Phe)
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NM_001034853.2(RPGR):c.408T>A (p.Phe136Leu)
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NM_001034853.2(RPGR):c.41T>A (p.Val14Glu)
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NM_001034853.2(RPGR):c.436T>C (p.Ser146Pro)
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rs2147280274
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NM_001034853.2(RPGR):c.439G>A (p.Ala147Thr)
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NM_001034853.2(RPGR):c.452C>T (p.Thr151Ile)
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rs1060501180
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NM_001034853.2(RPGR):c.454T>C (p.Ser152Pro)
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NM_001034853.2(RPGR):c.466A>G (p.Thr156Ala)
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NM_001034853.2(RPGR):c.467C>A (p.Thr156Asn)
|
rs751512713
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NM_001034853.2(RPGR):c.469+4A>G
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NM_001034853.2(RPGR):c.488T>A (p.Met163Lys)
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NM_001034853.2(RPGR):c.490T>G (p.Trp164Gly)
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NM_001034853.2(RPGR):c.503C>A (p.Ser168Tyr)
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NM_001034853.2(RPGR):c.561_562insTTG (p.Thr187_Ile188insLeu)
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NM_001034853.2(RPGR):c.562A>G (p.Ile188Val)
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NM_001034853.2(RPGR):c.587C>G (p.Ser196Cys)
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NM_001034853.2(RPGR):c.617C>G (p.Thr206Arg)
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NM_001034853.2(RPGR):c.619+5G>A
|
rs62638649
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NM_001034853.2(RPGR):c.619+5G>C
|
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NM_001034853.2(RPGR):c.620-4A>G
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NM_001034853.2(RPGR):c.646G>A (p.Glu216Lys)
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NM_001034853.2(RPGR):c.673C>T (p.Pro225Ser)
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NM_001034853.2(RPGR):c.676A>G (p.Asn226Asp)
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NM_001034853.2(RPGR):c.677A>C (p.Asn226Thr)
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NM_001034853.2(RPGR):c.677A>G (p.Asn226Ser)
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NM_001034853.2(RPGR):c.680A>G (p.Gln227Arg)
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rs774988145
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NM_001034853.2(RPGR):c.68C>A (p.Ala23Asp)
|
rs2147291804
|
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NM_001034853.2(RPGR):c.692A>G (p.Asn231Ser)
|
|
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NM_001034853.2(RPGR):c.725C>A (p.Pro242Gln)
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NM_001034853.2(RPGR):c.725C>T (p.Pro242Leu)
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NM_001034853.2(RPGR):c.735G>A (p.Val245=)
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NM_001034853.2(RPGR):c.754G>A (p.Gly252Arg)
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NM_001034853.2(RPGR):c.900T>G (p.Ile300Met)
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NM_001034853.2(RPGR):c.934G>T (p.Asp312Tyr)
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NM_001034853.2(RPGR):c.964G>A (p.Gly322Ser)
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|
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NM_001034853.2(RPGR):c.967C>G (p.Arg323Gly)
|
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NM_001034853.2(RPGR):c.967C>T (p.Arg323Cys)
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NM_001034853.2(RPGR):c.971A>G (p.His324Arg)
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NM_001034853.2(RPGR):c.972C>G (p.His324Gln)
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NM_001044385.3(TMEM237):c.1015TCT[1] (p.Ser340del)
|
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NM_001044385.3(TMEM237):c.1027G>A (p.Gly343Ser)
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NM_001044385.3(TMEM237):c.1051G>A (p.Glu351Lys)
|
|
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NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
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NM_001044385.3(TMEM237):c.1078G>A (p.Val360Met)
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|
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NM_001044385.3(TMEM237):c.1078G>C (p.Val360Leu)
|
rs1957756642
|
|
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu)
|
rs138509553
|
|
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala)
|
rs1957756375
|
|
NM_001044385.3(TMEM237):c.1114T>C (p.Ser372Pro)
|
|
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NM_001044385.3(TMEM237):c.113A>C (p.Lys38Thr)
|
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NM_001044385.3(TMEM237):c.1141G>A (p.Gly381Ser)
|
|
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NM_001044385.3(TMEM237):c.1154G>A (p.Ser385Asn)
|
rs1362249907
|
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NM_001044385.3(TMEM237):c.1159+3A>G
|
rs754717992
|
|
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs)
|
rs763176756
|
|
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser)
|
rs1957737864
|
|
NM_001044385.3(TMEM237):c.1203_1208del (p.400KE[1])
|
rs765428296
|
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NM_001044385.3(TMEM237):c.1215del (p.Ala406fs)
|
rs761770686
|
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NM_001044385.3(TMEM237):c.1217C>A (p.Ala406Asp)
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|
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NM_001044385.3(TMEM237):c.1220C>T (p.Ser407Phe)
|
|
|
NM_001044385.3(TMEM237):c.131C>T (p.Thr44Ile)
|
|
|
NM_001044385.3(TMEM237):c.133C>T (p.Pro45Ser)
|
rs1376540567
|
|
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu)
|
rs562984785
|
|
NM_001044385.3(TMEM237):c.155G>T (p.Gly52Val)
|
|
|
NM_001044385.3(TMEM237):c.165G>T (p.Gln55His)
|
rs768568104
|
|
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr)
|
rs999613520
|
|
NM_001044385.3(TMEM237):c.205A>G (p.Thr69Ala)
|
|
|
NM_001044385.3(TMEM237):c.205A>T (p.Thr69Ser)
|
rs376226585
|
|
NM_001044385.3(TMEM237):c.214C>G (p.Leu72Val)
|
rs1369476710
|
|
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr)
|
rs367728637
|
|
NM_001044385.3(TMEM237):c.23G>A (p.Arg8Gln)
|
rs778373105
|
|
NM_001044385.3(TMEM237):c.26T>A (p.Leu9Gln)
|
rs2105906100
|
|
NM_001044385.3(TMEM237):c.284C>A (p.Thr95Asn)
|
|
|
NM_001044385.3(TMEM237):c.292A>G (p.Thr98Ala)
|
|
|
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile)
|
rs1324625933
|
|
NM_001044385.3(TMEM237):c.300G>T (p.Lys100Asn)
|
|
|
NM_001044385.3(TMEM237):c.301A>G (p.Lys101Glu)
|
|
|
NM_001044385.3(TMEM237):c.310A>G (p.Ser104Gly)
|
|
|
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn)
|
rs1687222402
|
|
NM_001044385.3(TMEM237):c.319T>G (p.Leu107Val)
|
|
|
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys)
|
rs1319201699
|
|
NM_001044385.3(TMEM237):c.326G>A (p.Arg109Gln)
|
|
|
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys)
|
rs1553660992
|
|
NM_001044385.3(TMEM237):c.346G>A (p.Ala116Thr)
|
|
|
NM_001044385.3(TMEM237):c.34G>A (p.Gly12Ser)
|
|
|
NM_001044385.3(TMEM237):c.355G>A (p.Ala119Thr)
|
rs2105900828
|
|
NM_001044385.3(TMEM237):c.42+6C>T
|
|
|
NM_001044385.3(TMEM237):c.424G>A (p.Ala142Thr)
|
rs2105900282
|
|
NM_001044385.3(TMEM237):c.43C>T (p.Arg15Cys)
|
|
|
NM_001044385.3(TMEM237):c.44G>A (p.Arg15His)
|
|
|
NM_001044385.3(TMEM237):c.478G>A (p.Val160Met)
|
rs2105900253
|
|
NM_001044385.3(TMEM237):c.505C>T (p.Pro169Ser)
|
rs772074875
|
|
NM_001044385.3(TMEM237):c.553+2dup
|
rs1957812399
|
|
NM_001044385.3(TMEM237):c.553+3dup
|
rs1957812369
|
|
NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile)
|
|
|
NM_001044385.3(TMEM237):c.586A>T (p.Ile196Leu)
|
rs1202199961
|
|
NM_001044385.3(TMEM237):c.59T>G (p.Leu20Arg)
|
|
|
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile)
|
rs767769973
|
|
NM_001044385.3(TMEM237):c.655C>T (p.Leu219Phe)
|
rs2105899190
|
|
NM_001044385.3(TMEM237):c.65C>T (p.Pro22Leu)
|
rs769861092
|
|
NM_001044385.3(TMEM237):c.683T>C (p.Ile228Thr)
|
|
|
NM_001044385.3(TMEM237):c.685G>C (p.Gly229Arg)
|
rs1163877651
|
|
NM_001044385.3(TMEM237):c.709G>T (p.Ala237Ser)
|
rs763431945
|
|
NM_001044385.3(TMEM237):c.74+12_74+14del
|
|
|
NM_001044385.3(TMEM237):c.767C>G (p.Ser256Cys)
|
rs2105898977
|
|
NM_001044385.3(TMEM237):c.775T>C (p.Ser259Pro)
|
rs992818026
|
|
NM_001044385.3(TMEM237):c.79+5G>C
|
|
|
NM_001044385.3(TMEM237):c.850A>G (p.Thr284Ala)
|
|
|
NM_001044385.3(TMEM237):c.851C>T (p.Thr284Ile)
|
rs1015591586
|
|
NM_001044385.3(TMEM237):c.854T>C (p.Ile285Thr)
|
rs1343901400
|
|
NM_001044385.3(TMEM237):c.860C>A (p.Ala287Asp)
|
|
|
NM_001044385.3(TMEM237):c.870-8T>G
|
rs2105898458
|
|
NM_001044385.3(TMEM237):c.91C>T (p.Leu31Phe)
|
|
|
NM_001044385.3(TMEM237):c.920A>G (p.Asp307Gly)
|
rs2105898418
|
|
NM_001044385.3(TMEM237):c.926C>G (p.Thr309Arg)
|
rs1380123430
|
|
NM_001044385.3(TMEM237):c.934G>C (p.Ala312Pro)
|
rs2105898403
|
|
NM_001044385.3(TMEM237):c.944T>G (p.Leu315Trp)
|
rs1043186259
|
|
NM_001044385.3(TMEM237):c.964C>G (p.Leu322Val)
|
rs2105898068
|
|
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg)
|
rs1957768968
|
|
NM_001044385.3(TMEM237):c.970C>G (p.Leu324Val)
|
|
|
NM_001044385.3(TMEM237):c.986C>G (p.Thr329Arg)
|
rs1057148787
|
|
NM_001077418.2(TMEM231):c.-53A>G
|
rs1176007249
|
|
NM_001077418.2(TMEM231):c.-55C>T
|
rs2151711350
|
|
NM_001077418.2(TMEM231):c.-59G>A
|
|
|
NM_001077418.2(TMEM231):c.-61T>G
|
|
|
NM_001077418.3(TMEM231):c.-16C>A
|
|
|
NM_001077418.3(TMEM231):c.-17G>T
|
rs768513169
|
|
NM_001077418.3(TMEM231):c.-22G>C
|
|
|
NM_001077418.3(TMEM231):c.-25C>T
|
|
|
NM_001077418.3(TMEM231):c.-38T>C
|
rs758946916
|
|
NM_001077418.3(TMEM231):c.-41A>C
|
rs765256905
|
|
NM_001077418.3(TMEM231):c.-8C>T
|
rs780752063
|
|
NM_001077418.3(TMEM231):c.105C>T (p.Tyr35=)
|
|
|
NM_001077418.3(TMEM231):c.12T>C (p.Tyr4=)
|
|
|
NM_001077418.3(TMEM231):c.137A>C (p.His46Pro)
|
|
|
NM_001077418.3(TMEM231):c.139+14G>A
|
|
|
NM_001077418.3(TMEM231):c.139+28G>A
|
rs370005084
|
|
NM_001077418.3(TMEM231):c.139+44G>T
|
|
|
NM_001077418.3(TMEM231):c.140-10T>C
|
rs2151710900
|
|
NM_001077418.3(TMEM231):c.140-39G>A
|
|
|
NM_001077418.3(TMEM231):c.144T>G (p.Phe48Leu)
|
rs2151710882
|
|
NM_001077418.3(TMEM231):c.155G>A (p.Arg52Gln)
|
|
|
NM_001077418.3(TMEM231):c.15G>A (p.Glu5=)
|
|
|
NM_001077418.3(TMEM231):c.15G>C (p.Glu5Asp)
|
|
|
NM_001077418.3(TMEM231):c.164A>G (p.Tyr55Cys)
|
|
|
NM_001077418.3(TMEM231):c.175C>G (p.Pro59Ala)
|
|
|
NM_001077418.3(TMEM231):c.184C>T (p.Arg62Cys)
|
rs772102451
|
|
NM_001077418.3(TMEM231):c.199G>C (p.Val67Leu)
|
|
|
NM_001077418.3(TMEM231):c.205C>T (p.Leu69Phe)
|
|
|
NM_001077418.3(TMEM231):c.212C>A (p.Ala71Asp)
|
rs1350319069
|
|
NM_001077418.3(TMEM231):c.214C>G (p.Leu72Val)
|
rs2151710764
|
|
NM_001077418.3(TMEM231):c.217C>G (p.Leu73Val)
|
rs2080804915
|
|
NM_001077418.3(TMEM231):c.232G>A (p.Asp78Asn)
|
rs753709447
|
|
NM_001077418.3(TMEM231):c.258C>G (p.Phe86Leu)
|
|
|
NM_001077418.3(TMEM231):c.271C>T (p.Arg91Trp)
|
|
|
NM_001077418.3(TMEM231):c.272G>C (p.Arg91Pro)
|
|
|
NM_001077418.3(TMEM231):c.279A>C (p.Gln93His)
|
|
|
NM_001077418.3(TMEM231):c.29C>G (p.Pro10Arg)
|
|
|
NM_001077418.3(TMEM231):c.301C>A (p.Leu101Ile)
|
rs2151710524
|
|
NM_001077418.3(TMEM231):c.309G>A (p.Ser103=)
|
rs2151710504
|
|
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=)
|
rs2151710504
|
|
NM_001077418.3(TMEM231):c.310-18C>T
|
|
|
NM_001077418.3(TMEM231):c.335A>G (p.Asp112Gly)
|
rs1415195367
|
|
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg)
|
rs1202833405
|
|
NM_001077418.3(TMEM231):c.436C>T (p.His146Tyr)
|
|
|
NM_001077418.3(TMEM231):c.438+3G>A
|
rs1183368030
|
|
NM_001077418.3(TMEM231):c.438C>T (p.His146=)
|
|
|
NM_001077418.3(TMEM231):c.445G>A (p.Ala149Thr)
|
|
|
NM_001077418.3(TMEM231):c.445G>C (p.Ala149Pro)
|
|
|
NM_001077418.3(TMEM231):c.479A>G (p.Gln160Arg)
|
rs2080678228
|
|
NM_001077418.3(TMEM231):c.47G>A (p.Arg16His)
|
|
|
NM_001077418.3(TMEM231):c.47_48delinsAA (p.Arg16Gln)
|
|
|
NM_001077418.3(TMEM231):c.490C>G (p.Pro164Ala)
|
|
|
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp)
|
rs1597041448
|
|
NM_001077418.3(TMEM231):c.496C>G (p.Pro166Ala)
|
|
|
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu)
|
rs549400559
|
|
NM_001077418.3(TMEM231):c.507G>T (p.Gln169His)
|
|
|
NM_001077418.3(TMEM231):c.518A>G (p.Asn173Ser)
|
|
|
NM_001077418.3(TMEM231):c.557G>T (p.Cys186Phe)
|
rs1280264089
|
|
NM_001077418.3(TMEM231):c.569A>G (p.Asp190Gly)
|
|
|
NM_001077418.3(TMEM231):c.570T>A (p.Asp190Glu)
|
rs2151702535
|
|
NM_001077418.3(TMEM231):c.583-3C>G
|
|
|
NM_001077418.3(TMEM231):c.598G>A (p.Gly200Arg)
|
|
|
NM_001077418.3(TMEM231):c.619G>C (p.Asp207His)
|
|
|
NM_001077418.3(TMEM231):c.636T>G (p.His212Gln)
|
|
|
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg)
|
rs2080639506
|
|
NM_001077418.3(TMEM231):c.662A>G (p.Asn221Ser)
|
|
|
NM_001077418.3(TMEM231):c.664G>C (p.Val222Leu)
|
rs397514753
|
|
NM_001077418.3(TMEM231):c.665-19_665-13del
|
|
|
NM_001077418.3(TMEM231):c.668C>T (p.Thr223Ile)
|
|
|
NM_001077418.3(TMEM231):c.68C>T (p.Ala23Val)
|
rs1567441268
|
|
NM_001077418.3(TMEM231):c.691C>A (p.Pro231Thr)
|
|
|
NM_001077418.3(TMEM231):c.696C>G (p.Ile232Met)
|
|
|
NM_001077418.3(TMEM231):c.704T>C (p.Val235Ala)
|
|
|
NM_001077418.3(TMEM231):c.715G>A (p.Ala239Thr)
|
rs139236786
|
|
NM_001077418.3(TMEM231):c.715G>C (p.Ala239Pro)
|
|
|
NM_001077418.3(TMEM231):c.716C>A (p.Ala239Glu)
|
|
|
NM_001077418.3(TMEM231):c.71C>A (p.Ala24Glu)
|
rs1277858041
|
|
NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)
|
|
|
NM_001077418.3(TMEM231):c.749G>C (p.Arg250Pro)
|
|
|
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala)
|
rs1295551040
|
|
NM_001077418.3(TMEM231):c.770+3A>G
|
rs2080625882
|
|
NM_001077418.3(TMEM231):c.770+6C>G
|
|
|
NM_001077418.3(TMEM231):c.774T>G (p.Tyr258Ter)
|
|
|
NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)
|
|
|
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His)
|
rs758048238
|
|
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu)
|
rs2151697774
|
|
NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys)
|
rs797044954
|
|
NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)
|
|
|
NM_001077418.3(TMEM231):c.818A>T (p.Tyr273Phe)
|
|
|
NM_001077418.3(TMEM231):c.823A>G (p.Ser275Gly)
|
|
|
NM_001077418.3(TMEM231):c.841C>T (p.Leu281Phe)
|
|
|
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=)
|
rs2080604225
|
|
NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)
|
|
|
NM_001077418.3(TMEM231):c.865A>G (p.Ile289Val)
|
|
|
NM_001077418.3(TMEM231):c.871G>C (p.Val291Leu)
|
|
|
NM_001077418.3(TMEM231):c.899T>C (p.Ile300Thr)
|
rs2151697600
|
|
NM_001077418.3(TMEM231):c.904G>A (p.Val302Met)
|
|
|
NM_001077418.3(TMEM231):c.922G>T (p.Gly308Ter)
|
|
|
NM_001077418.3(TMEM231):c.926A>T (p.Asp309Val)
|
|
|
NM_001080463.2(DYNC2H1):c.9820A>T (p.Ile3274Phe)
|
|
|
NM_001080463.2(DYNC2H1):c.9838T>C (p.Trp3280Arg)
|
rs2135218261
|
|
NM_001082538.3(TCTN1):c.1004_1013delinsCCTCACATACACAGCCTCACATACACAG (p.Asp335_Glu338delinsAlaSerHisThrGlnProHisIleHisArg)
|
|
|
NM_001082538.3(TCTN1):c.1009G>C (p.Gly337Arg)
|
rs2136130583
|
|
NM_001082538.3(TCTN1):c.1030C>A (p.Leu344Ile)
|
rs1056341678
|
|
NM_001082538.3(TCTN1):c.1033T>A (p.Ser345Thr)
|
rs2066918404
|
|
NM_001082538.3(TCTN1):c.1039G>A (p.Val347Ile)
|
rs199967338
|
|
NM_001082538.3(TCTN1):c.1045G>A (p.Gly349Arg)
|
|
|
NM_001082538.3(TCTN1):c.1079A>G (p.Gln360Arg)
|
rs774343613
|
|
NM_001082538.3(TCTN1):c.1083G>C (p.Lys361Asn)
|
|
|
NM_001082538.3(TCTN1):c.1086T>G (p.Phe362Leu)
|
rs2066921812
|
|
NM_001082538.3(TCTN1):c.1109A>G (p.Asn370Ser)
|
|
|
NM_001082538.3(TCTN1):c.114C>A (p.Thr38=)
|
|
|
NM_001082538.3(TCTN1):c.1219T>C (p.Tyr407His)
|
|
|
NM_001082538.3(TCTN1):c.121G>T (p.Ala41Ser)
|
|
|
NM_001082538.3(TCTN1):c.1222G>A (p.Gly408Arg)
|
|
|
NM_001082538.3(TCTN1):c.1235T>C (p.Ile412Thr)
|
rs2136144284
|
|
NM_001082538.3(TCTN1):c.125T>C (p.Leu42Pro)
|
rs1415245710
|
|
NM_001082538.3(TCTN1):c.1279G>A (p.Val427Ile)
|
rs560599144
|
|
NM_001082538.3(TCTN1):c.1283G>A (p.Arg428Gln)
|
|
|
NM_001082538.3(TCTN1):c.1337C>G (p.Thr446Ser)
|
|
|
NM_001082538.3(TCTN1):c.1351T>G (p.Cys451Gly)
|
|
|
NM_001082538.3(TCTN1):c.1360G>T (p.Val454Leu)
|
rs369759157
|
|
NM_001082538.3(TCTN1):c.1361T>C (p.Val454Ala)
|
|
|
NM_001082538.3(TCTN1):c.1380C>G (p.Ser460Arg)
|
rs2136171528
|
|
NM_001082538.3(TCTN1):c.1415C>A (p.Ala472Asp)
|
|
|
NM_001082538.3(TCTN1):c.1417C>T (p.Pro473Ser)
|
rs757074241
|
|
NM_001082538.3(TCTN1):c.146C>G (p.Pro49Arg)
|
rs571241015
|
|
NM_001082538.3(TCTN1):c.146C>T (p.Pro49Leu)
|
|
|
NM_001082538.3(TCTN1):c.1494+21del
|
|
|
NM_001082538.3(TCTN1):c.1517G>A (p.Cys506Tyr)
|
rs2136195685
|
|
NM_001082538.3(TCTN1):c.151A>G (p.Thr51Ala)
|
|
|
NM_001082538.3(TCTN1):c.156G>T (p.Arg52Ser)
|
|
|
NM_001082538.3(TCTN1):c.1595T>A (p.Val532Asp)
|
|
|
NM_001082538.3(TCTN1):c.1600G>A (p.Val534Ile)
|
|
|
NM_001082538.3(TCTN1):c.1639A>G (p.Asn547Asp)
|
|
|
NM_001082538.3(TCTN1):c.163_164delinsAA (p.Gly55Lys)
|
|
|
NM_001082538.3(TCTN1):c.1641C>G (p.Asn547Lys)
|
|
|
NM_001082538.3(TCTN1):c.1666_1668dup (p.Ile556dup)
|
rs773918437
|
|
NM_001082538.3(TCTN1):c.1676C>A (p.Ala559Glu)
|
rs373723058
|
|
NM_001082538.3(TCTN1):c.1677G>A (p.Ala559=)
|
|
|
NM_001082538.3(TCTN1):c.167C>T (p.Thr56Ile)
|
rs2135829550
|
|
NM_001082538.3(TCTN1):c.1685T>C (p.Phe562Ser)
|
rs1277761197
|
|
NM_001082538.3(TCTN1):c.1687G>T (p.Val563Leu)
|
rs1593399731
|
|
NM_001082538.3(TCTN1):c.1691A>C (p.Asp564Ala)
|
|
|
NM_001082538.3(TCTN1):c.1705G>A (p.Ala569Thr)
|
|
|
NM_001082538.3(TCTN1):c.1722A>C (p.Arg574Ser)
|
rs560372787
|
|
NM_001082538.3(TCTN1):c.1759TTC[2] (p.Phe589del)
|
|
|
NM_001082538.3(TCTN1):c.1759TTC[4] (p.Phe589dup)
|
rs1482826487
|
|
NM_001082538.3(TCTN1):c.1759_1760inv (p.Phe587Asn)
|
|
|
NM_001082538.3(TCTN1):c.1769C>T (p.Pro590Leu)
|
|
|
NM_001082538.3(TCTN1):c.19C>T (p.Pro7Ser)
|
rs2135826823
|
|
NM_001082538.3(TCTN1):c.202C>G (p.Pro68Ala)
|
|
|
NM_001082538.3(TCTN1):c.205A>G (p.Thr69Ala)
|
|
|
NM_001082538.3(TCTN1):c.233G>C (p.Cys78Ser)
|
rs760047850
|
|
NM_001082538.3(TCTN1):c.235G>T (p.Val79Phe)
|
|
|
NM_001082538.3(TCTN1):c.251C>T (p.Pro84Leu)
|
|
|
NM_001082538.3(TCTN1):c.284C>T (p.Pro95Leu)
|
|
|
NM_001082538.3(TCTN1):c.305T>G (p.Phe102Cys)
|
rs1593225303
|
|
NM_001082538.3(TCTN1):c.316T>C (p.Ser106Pro)
|
|
|
NM_001082538.3(TCTN1):c.332C>T (p.Pro111Leu)
|
|
|
NM_001082538.3(TCTN1):c.334G>C (p.Val112Leu)
|
rs1461650187
|
|
NM_001082538.3(TCTN1):c.347A>G (p.Asp116Gly)
|
|
|
NM_001082538.3(TCTN1):c.37C>T (p.Leu13Phe)
|
rs762387258
|
|
NM_001082538.3(TCTN1):c.395C>T (p.Thr132Ile)
|
|
|
NM_001082538.3(TCTN1):c.401A>G (p.Asn134Ser)
|
|
|
NM_001082538.3(TCTN1):c.425TTG[1] (p.Val143del)
|
|
|
NM_001082538.3(TCTN1):c.469A>G (p.Asn157Asp)
|
rs1338880412
|
|
NM_001082538.3(TCTN1):c.496A>C (p.Asn166His)
|
|
|
NM_001082538.3(TCTN1):c.499C>A (p.Pro167Thr)
|
rs2136005301
|
|
NM_001082538.3(TCTN1):c.512A>G (p.Asp171Gly)
|
|
|
NM_001082538.3(TCTN1):c.560T>C (p.Leu187Ser)
|
rs2066031755
|
|
NM_001082538.3(TCTN1):c.586A>G (p.Thr196Ala)
|
|
|
NM_001082538.3(TCTN1):c.604C>T (p.Pro202Ser)
|
|
|
NM_001082538.3(TCTN1):c.614C>G (p.Ala205Gly)
|
|
|
NM_001082538.3(TCTN1):c.667C>T (p.Pro223Ser)
|
rs770297289
|
|
NM_001082538.3(TCTN1):c.720G>A (p.Leu240=)
|
rs2066445334
|
|
NM_001082538.3(TCTN1):c.767G>T (p.Cys256Phe)
|
|
|
NM_001082538.3(TCTN1):c.782C>G (p.Ala261Gly)
|
rs2136070459
|
|
NM_001082538.3(TCTN1):c.802A>G (p.Ser268Gly)
|
rs771495390
|
|
NM_001082538.3(TCTN1):c.809C>A (p.Pro270Gln)
|
|
|
NM_001082538.3(TCTN1):c.843+4A>G
|
|
|
NM_001082538.3(TCTN1):c.844G>A (p.Val282Ile)
|
|
|
NM_001082538.3(TCTN1):c.899G>C (p.Arg300Pro)
|
|
|
NM_001134831.2(AHI1):c.1000T>C (p.Tyr334His)
|
|
|
NM_001134831.2(AHI1):c.1003C>A (p.Pro335Thr)
|
|
|
NM_001134831.2(AHI1):c.1008A>T (p.Lys336Asn)
|
|
|
NM_001134831.2(AHI1):c.1018G>C (p.Asp340His)
|
|
|
NM_001134831.2(AHI1):c.1024G>A (p.Asp342Asn)
|
rs2128081643
|
|
NM_001134831.2(AHI1):c.1028T>C (p.Leu343Pro)
|
|
|
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln)
|
rs397514726
|
|
NM_001134831.2(AHI1):c.1066A>C (p.Lys356Gln)
|
|
|
NM_001134831.2(AHI1):c.1085C>T (p.Ser362Phe)
|
rs754784786
|
|
NM_001134831.2(AHI1):c.1093A>G (p.Met365Val)
|
|
|
NM_001134831.2(AHI1):c.1104T>G (p.Ile368Met)
|
|
|
NM_001134831.2(AHI1):c.1105C>G (p.His369Asp)
|
rs1789169805
|
|
NM_001134831.2(AHI1):c.1108G>A (p.Val370Met)
|
rs2128081442
|
|
NM_001134831.2(AHI1):c.1111G>A (p.Val371Ile)
|
|
|
NM_001134831.2(AHI1):c.1151+5_1151+6insG
|
rs1562218791
|
|
NM_001134831.2(AHI1):c.1196A>G (p.Tyr399Cys)
|
rs1788860785
|
|
NM_001134831.2(AHI1):c.1210A>G (p.Met404Val)
|
|
|
NM_001134831.2(AHI1):c.1214C>A (p.Thr405Asn)
|
rs2128077525
|
|
NM_001134831.2(AHI1):c.1216C>G (p.Gln406Glu)
|
rs2128077516
|
|
NM_001134831.2(AHI1):c.1239A>T (p.Leu413Phe)
|
rs1396631386
|
|
NM_001134831.2(AHI1):c.1258T>G (p.Trp420Gly)
|
|
|
NM_001134831.2(AHI1):c.1261G>A (p.Glu421Lys)
|
|
|
NM_001134831.2(AHI1):c.1300C>T (p.Leu434Phe)
|
rs761203456
|
|
NM_001134831.2(AHI1):c.1304G>C (p.Arg435Pro)
|
|
|
NM_001134831.2(AHI1):c.1310C>T (p.Ser437Phe)
|
rs372919026
|
|
NM_001134831.2(AHI1):c.1330A>G (p.Ile444Val)
|
rs577887220
|
|
NM_001134831.2(AHI1):c.1337T>C (p.Phe446Ser)
|
rs773978949
|
|
NM_001134831.2(AHI1):c.1337_1338delinsAT (p.Phe446Tyr)
|
rs2128077085
|
|
NM_001134831.2(AHI1):c.1344+4T>C
|
|
|
NM_001134831.2(AHI1):c.135+4A>G
|
|
|
NM_001134831.2(AHI1):c.135+9A>G
|
|
|
NM_001134831.2(AHI1):c.1357T>A (p.Leu453Ile)
|
|
|
NM_001134831.2(AHI1):c.137C>G (p.Pro46Arg)
|
rs1210811690
|
|
NM_001134831.2(AHI1):c.1400A>G (p.Gln467Arg)
|
rs2128071081
|
|
NM_001134831.2(AHI1):c.1406G>T (p.Cys469Phe)
|
|
|
NM_001134831.2(AHI1):c.1423G>A (p.Ala475Thr)
|
rs1416049863
|
|
NM_001134831.2(AHI1):c.1440+3A>G
|
|
|
NM_001134831.2(AHI1):c.1440+5G>A
|
|
|
NM_001134831.2(AHI1):c.1463C>T (p.Ala488Val)
|
|
|
NM_001134831.2(AHI1):c.1471A>C (p.Asn491His)
|
rs2128059224
|
|
NM_001134831.2(AHI1):c.1478A>G (p.Lys493Arg)
|
|
|
NM_001134831.2(AHI1):c.1484G>T (p.Arg495Leu)
|
|
|
NM_001134831.2(AHI1):c.1498T>A (p.Tyr500Asn)
|
rs2128059133
|
|
NM_001134831.2(AHI1):c.1502C>T (p.Pro501Leu)
|
|
|
NM_001134831.2(AHI1):c.1516C>G (p.Arg506Gly)
|
rs371637724
|
|
NM_001134831.2(AHI1):c.1520C>G (p.Ser507Cys)
|
|
|
NM_001134831.2(AHI1):c.152G>A (p.Ser51Asn)
|
rs759236704
|
|
NM_001134831.2(AHI1):c.1532TTG[1] (p.Val512del)
|
rs1787565839
|
|
NM_001134831.2(AHI1):c.153C>G (p.Ser51Arg)
|
rs1790994808
|
|
NM_001134831.2(AHI1):c.155A>G (p.Asn52Ser)
|
|
|
NM_001134831.2(AHI1):c.1627-9C>A
|
rs1787374682
|
|
NM_001134831.2(AHI1):c.1627A>G (p.Ile543Val)
|
|
|
NM_001134831.2(AHI1):c.1643G>T (p.Arg548Leu)
|
|
|
NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys)
|
rs971565169
|
|
NM_001134831.2(AHI1):c.1678C>G (p.Pro560Ala)
|
rs1787365319
|
|
NM_001134831.2(AHI1):c.167T>C (p.Met56Thr)
|
rs1340420754
|
|
NM_001134831.2(AHI1):c.1682T>C (p.Val561Ala)
|
rs2128056468
|
|
NM_001134831.2(AHI1):c.1724A>T (p.Glu575Val)
|
|
|
NM_001134831.2(AHI1):c.1735G>A (p.Glu579Lys)
|
rs1787353725
|
|
NM_001134831.2(AHI1):c.1780-3T>C
|
rs1786509189
|
|
NM_001134831.2(AHI1):c.1796A>G (p.Asn599Ser)
|
rs1429959840
|
|
NM_001134831.2(AHI1):c.1813C>A (p.Leu605Ile)
|
|
|
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
|
rs374009466
|
|
NM_001134831.2(AHI1):c.1849T>A (p.Phe617Ile)
|
rs769173709
|
|
NM_001134831.2(AHI1):c.1858A>G (p.Asn620Asp)
|
|
|
NM_001134831.2(AHI1):c.1867A>G (p.Ile623Val)
|
|
|
NM_001134831.2(AHI1):c.186T>A (p.Asp62Glu)
|
|
|
NM_001134831.2(AHI1):c.1879G>C (p.Ala627Pro)
|
|
|
NM_001134831.2(AHI1):c.1898G>A (p.Gly633Glu)
|
rs2128046191
|
|
NM_001134831.2(AHI1):c.1901A>G (p.Tyr634Cys)
|
|
|
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu)
|
rs371531507
|
|
NM_001134831.2(AHI1):c.1906A>G (p.Ile636Val)
|
|
|
NM_001134831.2(AHI1):c.1934G>A (p.Arg645His)
|
rs772513002
|
|
NM_001134831.2(AHI1):c.1934G>C (p.Arg645Pro)
|
rs772513002
|
|
NM_001134831.2(AHI1):c.1939A>T (p.Met647Leu)
|
|
|
NM_001134831.2(AHI1):c.1941G>T (p.Met647Ile)
|
|
|
NM_001134831.2(AHI1):c.1959C>A (p.His653Gln)
|
|
|
NM_001134831.2(AHI1):c.1964A>G (p.Asn655Ser)
|
|
|
NM_001134831.2(AHI1):c.1975G>T (p.Asp659Tyr)
|
rs1323210459
|
|
NM_001134831.2(AHI1):c.1978C>G (p.Leu660Val)
|
|
|
NM_001134831.2(AHI1):c.1987T>C (p.Ser663Pro)
|
|
|
NM_001134831.2(AHI1):c.2003A>G (p.Tyr668Cys)
|
rs1785741670
|
|
NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val)
|
rs371198770
|
|
NM_001134831.2(AHI1):c.2027G>T (p.Gly676Val)
|
|
|
NM_001134831.2(AHI1):c.2030C>T (p.Thr677Ile)
|
rs758363344
|
|
NM_001134831.2(AHI1):c.2037-8T>G
|
|
|
NM_001134831.2(AHI1):c.2080T>C (p.Leu694=)
|
|
|
NM_001134831.2(AHI1):c.2092T>A (p.Ser698Thr)
|
rs2128022901
|
|
NM_001134831.2(AHI1):c.2128A>G (p.Arg710Gly)
|
|
|
NM_001134831.2(AHI1):c.2132_2146del (p.Glu711_Thr715del)
|
rs1305959685
|
|
NM_001134831.2(AHI1):c.2167C>T (p.Arg723Trp)
|
|
|
NM_001134831.2(AHI1):c.2171T>C (p.Ile724Thr)
|
|
|
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)
|
rs863225144
|
|
NM_001134831.2(AHI1):c.2194G>C (p.Asp732His)
|
rs200697251
|
|
NM_001134831.2(AHI1):c.2205A>G (p.Ile735Met)
|
rs956311950
|
|
NM_001134831.2(AHI1):c.2209G>A (p.Val737Ile)
|
rs1227775795
|
|
NM_001134831.2(AHI1):c.2215C>G (p.Gln739Glu)
|
|
|
NM_001134831.2(AHI1):c.2223_2224inv (p.Val742Ile)
|
|
|
NM_001134831.2(AHI1):c.2230A>G (p.Lys744Glu)
|
|
|
NM_001134831.2(AHI1):c.2240T>G (p.Ile747Ser)
|
rs1784889346
|
|
NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala)
|
rs752392677
|
|
NM_001134831.2(AHI1):c.2261C>T (p.Thr754Ile)
|
|
|
NM_001134831.2(AHI1):c.2266G>C (p.Gly756Arg)
|
|
|
NM_001134831.2(AHI1):c.2270A>T (p.His757Leu)
|
rs2128016998
|
|
NM_001134831.2(AHI1):c.2272C>T (p.His758Tyr)
|
|
|
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)
|
rs794727174
|
|
NM_001134831.2(AHI1):c.2290T>G (p.Cys764Gly)
|
rs1029862405
|
|
NM_001134831.2(AHI1):c.2291G>A (p.Cys764Tyr)
|
rs1355452076
|
|
NM_001134831.2(AHI1):c.229A>G (p.Thr77Ala)
|
rs558131794
|
|
NM_001134831.2(AHI1):c.2308G>A (p.Val770Ile)
|
rs1049221524
|
|
NM_001134831.2(AHI1):c.2315A>G (p.Asn772Ser)
|
rs2128016790
|
|
NM_001134831.2(AHI1):c.2326A>C (p.Lys776Gln)
|
rs778249065
|
|
NM_001134831.2(AHI1):c.2335G>A (p.Asp779Asn)
|
rs1583199685
|
|
NM_001134831.2(AHI1):c.2350G>C (p.Val784Leu)
|
rs1377937999
|
|
NM_001134831.2(AHI1):c.235A>G (p.Ser79Gly)
|
|
|
NM_001134831.2(AHI1):c.2362A>C (p.Thr788Pro)
|
rs1583199499
|
|
NM_001134831.2(AHI1):c.2372A>G (p.Lys791Arg)
|
|
|
NM_001134831.2(AHI1):c.2380A>G (p.Lys794Glu)
|
|
|
NM_001134831.2(AHI1):c.239A>G (p.Asp80Gly)
|
rs1790752699
|
|
NM_001134831.2(AHI1):c.2405C>T (p.Pro802Leu)
|
|
|
NM_001134831.2(AHI1):c.244G>A (p.Val82Ile)
|
rs2128098836
|
|
NM_001134831.2(AHI1):c.2451C>G (p.Ile817Met)
|
|
|
NM_001134831.2(AHI1):c.2479A>G (p.Met827Val)
|
|
|
NM_001134831.2(AHI1):c.2484T>A (p.Asp828Glu)
|
|
|
NM_001134831.2(AHI1):c.2500G>T (p.Ala834Ser)
|
|
|
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val)
|
rs529407899
|
|
NM_001134831.2(AHI1):c.2512G>A (p.Val838Ile)
|
|
|
NM_001134831.2(AHI1):c.251C>T (p.Ala84Val)
|
rs1445914255
|
|
NM_001134831.2(AHI1):c.2530C>G (p.Arg844Gly)
|
rs773787232
|
|
NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser)
|
rs2128009440
|
|
NM_001134831.2(AHI1):c.2567C>T (p.Thr856Ile)
|
|
|
NM_001134831.2(AHI1):c.2584A>C (p.Ser862Arg)
|
rs2128009310
|
|
NM_001134831.2(AHI1):c.2594G>A (p.Gly865Asp)
|
|
|
NM_001134831.2(AHI1):c.260C>G (p.Thr87Ser)
|
rs2128098808
|
|
NM_001134831.2(AHI1):c.2614C>A (p.Pro872Thr)
|
rs1784233788
|
|
NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala)
|
rs376705634
|
|
NM_001134831.2(AHI1):c.2623+3G>A
|
rs2128009174
|
|
NM_001134831.2(AHI1):c.2623+5A>G
|
|
|
NM_001134831.2(AHI1):c.2623G>A (p.Gly875Arg)
|
rs1784232614
|
|
NM_001134831.2(AHI1):c.2632G>A (p.Val878Ile)
|
rs2128006042
|
|
NM_001134831.2(AHI1):c.2635G>A (p.Ala879Thr)
|
rs764525761
|
|
NM_001134831.2(AHI1):c.2677A>G (p.Ile893Val)
|
rs372710626
|
|
NM_001134831.2(AHI1):c.2722G>A (p.Gly908Arg)
|
rs1583179946
|
|
NM_001134831.2(AHI1):c.272A>G (p.Lys91Arg)
|
|
|
NM_001134831.2(AHI1):c.2734C>T (p.Pro912Ser)
|
|
|
NM_001134831.2(AHI1):c.2747A>G (p.Tyr916Cys)
|
rs1583179767
|
|
NM_001134831.2(AHI1):c.2755G>A (p.Asp919Asn)
|
|
|
NM_001134831.2(AHI1):c.2756A>G (p.Asp919Gly)
|
|
|
NM_001134831.2(AHI1):c.2764+6T>C
|
|
|
NM_001134831.2(AHI1):c.2767G>A (p.Ala923Thr)
|
|
|
NM_001134831.2(AHI1):c.2768C>T (p.Ala923Val)
|
rs1220794157
|
|
NM_001134831.2(AHI1):c.2800A>G (p.Asn934Asp)
|
rs1365944374
|
|
NM_001134831.2(AHI1):c.2801A>G (p.Asn934Ser)
|
|
|
NM_001134831.2(AHI1):c.2819C>A (p.Pro940His)
|
|
|
NM_001134831.2(AHI1):c.284G>A (p.Arg95Lys)
|
|
|
NM_001134831.2(AHI1):c.2852C>T (p.Thr951Ile)
|
rs1562703260
|
|
NM_001134831.2(AHI1):c.2866C>T (p.Pro956Ser)
|
|
|
NM_001134831.2(AHI1):c.286G>A (p.Val96Ile)
|
rs2128098755
|
|
NM_001134831.2(AHI1):c.2891A>G (p.Asp964Gly)
|
|
|
NM_001134831.2(AHI1):c.2902C>T (p.His968Tyr)
|
rs1253336600
|
|
NM_001134831.2(AHI1):c.2926A>T (p.Met976Leu)
|
rs770006937
|
|
NM_001134831.2(AHI1):c.2961+3A>G
|
rs1444567539
|
|
NM_001134831.2(AHI1):c.2962G>A (p.Glu988Lys)
|
rs2128498551
|
|
NM_001134831.2(AHI1):c.2965G>T (p.Val989Leu)
|
|
|
NM_001134831.2(AHI1):c.2967G>A (p.Val989=)
|
|
|
NM_001134831.2(AHI1):c.2978G>C (p.Cys993Ser)
|
|
|
NM_001134831.2(AHI1):c.3002T>G (p.Leu1001Arg)
|
rs1347960440
|
|
NM_001134831.2(AHI1):c.3039G>C (p.Gln1013His)
|
rs142381345
|
|
NM_001134831.2(AHI1):c.3049A>G (p.Lys1017Glu)
|
rs1779002936
|
|
NM_001134831.2(AHI1):c.304A>G (p.Arg102Gly)
|
|
|
NM_001134831.2(AHI1):c.3053A>G (p.Gln1018Arg)
|
|
|
NM_001134831.2(AHI1):c.3073C>G (p.Gln1025Glu)
|
rs868723363
|
|
NM_001134831.2(AHI1):c.3086A>G (p.His1029Arg)
|
|
|
NM_001134831.2(AHI1):c.3101C>T (p.Thr1034Ile)
|
|
|
NM_001134831.2(AHI1):c.3103C>G (p.Gln1035Glu)
|
rs1401580475
|
|
NM_001134831.2(AHI1):c.3106A>G (p.Thr1036Ala)
|
rs1455353901
|
|
NM_001134831.2(AHI1):c.3109+3G>T
|
rs2128484977
|
|
NM_001134831.2(AHI1):c.3109+5G>A
|
|
|
NM_001134831.2(AHI1):c.313C>G (p.Gln105Glu)
|
|
|
NM_001134831.2(AHI1):c.314A>G (p.Gln105Arg)
|
|
|
NM_001134831.2(AHI1):c.3158C>T (p.Ala1053Val)
|
|
|
NM_001134831.2(AHI1):c.3165G>A (p.Thr1055=)
|
|
|
NM_001134831.2(AHI1):c.3174_3185dup (p.Leu1059_Tyr1062dup)
|
rs1348711822
|
|
NM_001134831.2(AHI1):c.3175C>G (p.Leu1059Val)
|
rs1583719768
|
|
NM_001134831.2(AHI1):c.3181G>A (p.Asp1061Asn)
|
rs2128384823
|
|
NM_001134831.2(AHI1):c.3187A>G (p.Thr1063Ala)
|
|
|
NM_001134831.2(AHI1):c.3188C>T (p.Thr1063Ile)
|
|
|
NM_001134831.2(AHI1):c.3196C>G (p.Arg1066Gly)
|
rs780163791
|
|
NM_001134831.2(AHI1):c.3203A>T (p.Asp1068Val)
|
rs2128384768
|
|
NM_001134831.2(AHI1):c.3217C>T (p.His1073Tyr)
|
rs374945386
|
|
NM_001134831.2(AHI1):c.3231_3233del (p.Ile1078del)
|
|
|
NM_001134831.2(AHI1):c.325G>C (p.Glu109Gln)
|
|
|
NM_001134831.2(AHI1):c.3323G>A (p.Ser1108Asn)
|
|
|
NM_001134831.2(AHI1):c.3329-6T>G
|
rs2128376543
|
|
NM_001134831.2(AHI1):c.332C>G (p.Pro111Arg)
|
|
|
NM_001134831.2(AHI1):c.3335A>T (p.Tyr1112Phe)
|
|
|
NM_001134831.2(AHI1):c.3349C>G (p.Pro1117Ala)
|
|
|
NM_001134831.2(AHI1):c.336T>A (p.Asn112Lys)
|
|
|
NM_001134831.2(AHI1):c.3397A>G (p.Lys1133Glu)
|
rs756931330
|
|
NM_001134831.2(AHI1):c.3467G>T (p.Gly1156Val)
|
|
|
NM_001134831.2(AHI1):c.3486-3T>C
|
rs1333343554
|
|
NM_001134831.2(AHI1):c.34A>C (p.Thr12Pro)
|
rs761288707
|
|
NM_001134831.2(AHI1):c.3546G>C (p.Met1182Ile)
|
|
|
NM_001134831.2(AHI1):c.3577A>G (p.Thr1193Ala)
|
|
|
NM_001134831.2(AHI1):c.3578C>G (p.Thr1193Ser)
|
rs1782196497
|
|
NM_001134831.2(AHI1):c.3586G>A (p.Glu1196Lys)
|
rs976929589
|
|
NM_001134831.2(AHI1):c.3588+2T>A
|
rs1782194096
|
|
NM_001134831.2(AHI1):c.376A>G (p.Asn126Asp)
|
|
|
NM_001134831.2(AHI1):c.385G>T (p.Val129Leu)
|
|
|
NM_001134831.2(AHI1):c.388A>C (p.Ile130Leu)
|
rs376751417
|
|
NM_001134831.2(AHI1):c.388A>T (p.Ile130Leu)
|
rs376751417
|
|
NM_001134831.2(AHI1):c.390A>G (p.Ile130Met)
|
|
|
NM_001134831.2(AHI1):c.397G>C (p.Val133Leu)
|
|
|
NM_001134831.2(AHI1):c.400C>A (p.Pro134Thr)
|
rs368077581
|
|
NM_001134831.2(AHI1):c.412A>G (p.Thr138Ala)
|
|
|
NM_001134831.2(AHI1):c.413C>T (p.Thr138Ile)
|
|
|
NM_001134831.2(AHI1):c.416A>C (p.Gln139Pro)
|
rs1397997127
|
|
NM_001134831.2(AHI1):c.416A>G (p.Gln139Arg)
|
|
|
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu)
|
rs192524061
|
|
NM_001134831.2(AHI1):c.433A>G (p.Thr145Ala)
|
|
|
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys)
|
rs766052712
|
|
NM_001134831.2(AHI1):c.443A>C (p.Asn148Thr)
|
rs2128098381
|
|
NM_001134831.2(AHI1):c.448G>A (p.Val150Ile)
|
rs1418948476
|
|
NM_001134831.2(AHI1):c.44G>A (p.Arg15His)
|
rs760220297
|
|
NM_001134831.2(AHI1):c.44G>T (p.Arg15Leu)
|
rs760220297
|
|
NM_001134831.2(AHI1):c.452A>T (p.Asp151Val)
|
|
|
NM_001134831.2(AHI1):c.463C>G (p.Gln155Glu)
|
rs1790707920
|
|
NM_001134831.2(AHI1):c.472C>T (p.His158Tyr)
|
rs1468753761
|
|
NM_001134831.2(AHI1):c.482C>G (p.Pro161Arg)
|
rs1562240075
|
|
NM_001134831.2(AHI1):c.499C>A (p.His167Asn)
|
|
|
NM_001134831.2(AHI1):c.49G>C (p.Glu17Gln)
|
|
|
NM_001134831.2(AHI1):c.520A>C (p.Asn174His)
|
rs1375935414
|
|
NM_001134831.2(AHI1):c.521A>G (p.Asn174Ser)
|
rs1790693034
|
|
NM_001134831.2(AHI1):c.523G>A (p.Glu175Lys)
|
rs751749918
|
|
NM_001134831.2(AHI1):c.527G>T (p.Gly176Val)
|
rs2128098025
|
|
NM_001134831.2(AHI1):c.538A>G (p.Thr180Ala)
|
|
|
NM_001134831.2(AHI1):c.556G>A (p.Glu186Lys)
|
|
|
NM_001134831.2(AHI1):c.562T>A (p.Leu188Met)
|
rs775089247
|
|
NM_001134831.2(AHI1):c.575A>G (p.Tyr192Cys)
|
|
|
NM_001134831.2(AHI1):c.590C>A (p.Thr197Asn)
|
|
|
NM_001134831.2(AHI1):c.599T>C (p.Met200Thr)
|
rs1024535791
|
|
NM_001134831.2(AHI1):c.617G>A (p.Arg206Lys)
|
|
|
NM_001134831.2(AHI1):c.637A>G (p.Lys213Glu)
|
rs1790673913
|
|
NM_001134831.2(AHI1):c.706AAAAAG[1] (p.Lys238_Lys239del)
|
rs778008442
|
|
NM_001134831.2(AHI1):c.707A>C (p.Lys236Thr)
|
|
|
NM_001134831.2(AHI1):c.70A>G (p.Ser24Gly)
|
rs28395415
|
|
NM_001134831.2(AHI1):c.727G>A (p.Val243Ile)
|
|
|
NM_001134831.2(AHI1):c.750-16_750-15insA
|
|
|
NM_001134831.2(AHI1):c.751A>G (p.Thr251Ala)
|
|
|
NM_001134831.2(AHI1):c.756G>C (p.Leu252Phe)
|
rs1790220318
|
|
NM_001134831.2(AHI1):c.760A>G (p.Ile254Val)
|
|
|
NM_001134831.2(AHI1):c.780A>T (p.Glu260Asp)
|
|
|
NM_001134831.2(AHI1):c.7A>T (p.Thr3Ser)
|
rs1380181596
|
|
NM_001134831.2(AHI1):c.851C>T (p.Ser284Leu)
|
rs1481234264
|
|
NM_001134831.2(AHI1):c.856G>C (p.Glu286Gln)
|
|
|
NM_001134831.2(AHI1):c.872A>C (p.Asp291Ala)
|
|
|
NM_001134831.2(AHI1):c.881A>G (p.Gln294Arg)
|
rs771092146
|
|
NM_001134831.2(AHI1):c.884A>G (p.Asp295Gly)
|
rs1368691324
|
|
NM_001134831.2(AHI1):c.889A>G (p.Thr297Ala)
|
rs1790189960
|
|
NM_001134831.2(AHI1):c.901C>G (p.Pro301Ala)
|
|
|
NM_001134831.2(AHI1):c.909_917del (p.Thr304_Lys306del)
|
rs1417477245
|
|
NM_001134831.2(AHI1):c.910A>G (p.Thr304Ala)
|
|
|
NM_001134831.2(AHI1):c.928G>A (p.Ala310Thr)
|
|
|
NM_001134831.2(AHI1):c.931+3_931+4del
|
rs2128092551
|
|
NM_001134831.2(AHI1):c.935C>T (p.Ala312Val)
|
|
|
NM_001134831.2(AHI1):c.940A>C (p.Asn314His)
|
rs1789198105
|
|
NM_001134831.2(AHI1):c.940A>G (p.Asn314Asp)
|
|
|
NM_001134831.2(AHI1):c.950A>T (p.Asp317Val)
|
rs769064296
|
|
NM_001134831.2(AHI1):c.955G>A (p.Asp319Asn)
|
|
|
NM_001134831.2(AHI1):c.959G>C (p.Gly320Ala)
|
|
|
NM_001134831.2(AHI1):c.971A>G (p.His324Arg)
|
rs1789192683
|
|
NM_001134831.2(AHI1):c.989A>T (p.Asp330Val)
|
rs200201741
|
|
NM_001134831.2(AHI1):c.99_110del (p.30KKKL[1])
|
rs1192897691
|
|
NM_001173990.3(TMEM216):c.-24_12del (p.Met1_Arg4del)
|
rs1554972391
|
|
NM_001173990.3(TMEM216):c.101A>G (p.Tyr34Cys)
|
|
|
NM_001173990.3(TMEM216):c.121A>G (p.Ile41Val)
|
rs1858721272
|
|
NM_001173990.3(TMEM216):c.16C>G (p.Leu6Val)
|
|
|
NM_001173990.3(TMEM216):c.186G>A (p.Met62Ile)
|
rs1858737152
|
|
NM_001173990.3(TMEM216):c.203G>T (p.Gly68Val)
|
|
|
NM_001173990.3(TMEM216):c.224T>G (p.Phe75Cys)
|
rs1298138851
|
|
NM_001173990.3(TMEM216):c.226T>A (p.Phe76Ile)
|
|
|
NM_001173990.3(TMEM216):c.229+5G>A
|
rs1858740729
|
|
NM_001173990.3(TMEM216):c.22A>G (p.Met8Val)
|
|
|
NM_001173990.3(TMEM216):c.230-10T>C
|
rs1858829914
|
|
NM_001173990.3(TMEM216):c.259A>G (p.Met87Val)
|
|
|
NM_001173990.3(TMEM216):c.263C>T (p.Pro88Leu)
|
rs565580030
|
|
NM_001173990.3(TMEM216):c.264_265delinsAG (p.Leu89Val)
|
rs1858831429
|
|
NM_001173990.3(TMEM216):c.264_265delinsAT (p.Leu89Phe)
|
rs1858831429
|
|
NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro)
|
rs1238443381
|
|
NM_001173990.3(TMEM216):c.301A>C (p.Met101Leu)
|
|
|
NM_001173990.3(TMEM216):c.322C>A (p.Leu108Met)
|
rs1468325310
|
|
NM_001173990.3(TMEM216):c.337G>A (p.Val113Ile)
|
|
|
NM_001173990.3(TMEM216):c.340C>A (p.Leu114Ile)
|
|
|
NM_001173990.3(TMEM216):c.344G>T (p.Arg115Leu)
|
rs752216307
|
|
NM_001173990.3(TMEM216):c.347T>C (p.Leu116Pro)
|
|
|
NM_001173990.3(TMEM216):c.35-11_35-10delinsAA
|
|
|
NM_001173990.3(TMEM216):c.35-14T>A
|
|
|
NM_001173990.3(TMEM216):c.35-3del
|
|
|
NM_001173990.3(TMEM216):c.367A>G (p.Ile123Val)
|
rs1202088377
|
|
NM_001173990.3(TMEM216):c.40C>G (p.Arg14Gly)
|
|
|
NM_001173990.3(TMEM216):c.410T>C (p.Leu137Pro)
|
rs1351762820
|
|
NM_001173990.3(TMEM216):c.431+5T>C
|
|
|
NM_001173990.3(TMEM216):c.432-3C>T
|
|
|
NM_001173990.3(TMEM216):c.4C>G (p.Leu2Val)
|
rs1554972407
|
|
NM_001173990.3(TMEM216):c.77T>A (p.Leu26Gln)
|
|
|
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr)
|
rs1554972409
|
|
NM_001173990.3(TMEM216):c.91A>G (p.Asn31Asp)
|
|
|
NM_001174150.2(ARL13B):c.*1_*4delACAA
|
|
|
NM_001174150.2(ARL13B):c.1020A>T (p.Glu340Asp)
|
|
|
NM_001174150.2(ARL13B):c.1024+6_1024+9del
|
|
|
NM_001174150.2(ARL13B):c.1025-3T>A
|
rs373375837
|
|
NM_001174150.2(ARL13B):c.1033A>G (p.Lys345Glu)
|
rs2107191077
|
|
NM_001174150.2(ARL13B):c.1058T>C (p.Met353Thr)
|
rs1390167347
|
|
NM_001174150.2(ARL13B):c.1067A>G (p.Asn356Ser)
|
rs2077033566
|
|
NM_001174150.2(ARL13B):c.1069C>T (p.His357Tyr)
|
rs2077033637
|
|
NM_001174150.2(ARL13B):c.1071C>G (p.His357Gln)
|
|
|
NM_001174150.2(ARL13B):c.1094A>G (p.Asp365Gly)
|
rs1466606984
|
|
NM_001174150.2(ARL13B):c.1132C>G (p.Pro378Ala)
|
|
|
NM_001174150.2(ARL13B):c.1144G>T (p.Gly382Cys)
|
|
|
NM_001174150.2(ARL13B):c.1165A>G (p.Thr389Ala)
|
|
|
NM_001174150.2(ARL13B):c.1193G>T (p.Gly398Val)
|
rs1483508428
|
|
NM_001174150.2(ARL13B):c.1209T>C (p.Asn403=)
|
rs762926282
|
|
NM_001174150.2(ARL13B):c.1210+1G>T
|
rs1057414428
|
|
NM_001174150.2(ARL13B):c.1211-1G>C
|
rs767291160
|
|
NM_001174150.2(ARL13B):c.1223A>G (p.Lys408Arg)
|
rs2107208074
|
|
NM_001174150.2(ARL13B):c.1232C>T (p.Pro411Leu)
|
rs2107208132
|
|
NM_001174150.2(ARL13B):c.1250A>C (p.Gln417Pro)
|
|
|
NM_001174150.2(ARL13B):c.1268C>T (p.Ala423Val)
|
|
|
NM_001174150.2(ARL13B):c.1270C>T (p.His424Tyr)
|
rs886058932
|
|
NM_001174150.2(ARL13B):c.127G>C (p.Gly43Arg)
|
|
|
NM_001174150.2(ARL13B):c.154A>G (p.Thr52Ala)
|
rs1431090403
|
|
NM_001174150.2(ARL13B):c.174_191dup (p.Gly63_Lys64insAsnAsnLeuArgGlnGly)
|
rs2107435150
|
|
NM_001174150.2(ARL13B):c.190_192del (p.Lys64del)
|
rs2107435357
|
|
NM_001174150.2(ARL13B):c.200T>G (p.Val67Gly)
|
|
|
NM_001174150.2(ARL13B):c.206T>A (p.Ile69Asn)
|
|
|
NM_001174150.2(ARL13B):c.214T>G (p.Leu72Val)
|
rs2107435658
|
|
NM_001174150.2(ARL13B):c.221G>A (p.Gly74Asp)
|
rs2076089885
|
|
NM_001174150.2(ARL13B):c.233T>C (p.Ile78Thr)
|
rs2076090139
|
|
NM_001174150.2(ARL13B):c.238G>A (p.Gly80Arg)
|
|
|
NM_001174150.2(ARL13B):c.269A>G (p.Tyr90Cys)
|
|
|
NM_001174150.2(ARL13B):c.277A>G (p.Ile93Val)
|
|
|
NM_001174150.2(ARL13B):c.286G>T (p.Val96Leu)
|
|
|
NM_001174150.2(ARL13B):c.305A>T (p.Glu102Val)
|
rs1013644884
|
|
NM_001174150.2(ARL13B):c.308G>T (p.Arg103Ile)
|
rs1025041382
|
|
NM_001174150.2(ARL13B):c.362C>T (p.Ser121Leu)
|
|
|
NM_001174150.2(ARL13B):c.406G>A (p.Gly136Arg)
|
rs2107111382
|
|
NM_001174150.2(ARL13B):c.415G>A (p.Gly139Arg)
|
|
|
NM_001174150.2(ARL13B):c.437G>A (p.Cys146Tyr)
|
rs865931355
|
|
NM_001174150.2(ARL13B):c.466C>T (p.His156Tyr)
|
|
|
NM_001174150.2(ARL13B):c.485T>C (p.Ile162Thr)
|
rs1576026230
|
|
NM_001174150.2(ARL13B):c.487-3T>C
|
rs757167797
|
|
NM_001174150.2(ARL13B):c.487G>C (p.Glu163Gln)
|
|
|
NM_001174150.2(ARL13B):c.493T>C (p.Cys165Arg)
|
rs2076771227
|
|
NM_001174150.2(ARL13B):c.533C>A (p.Ser178Tyr)
|
|
|
NM_001174150.2(ARL13B):c.59+16C>G
|
|
|
NM_001174150.2(ARL13B):c.607_609del (p.Lys203del)
|
|
|
NM_001174150.2(ARL13B):c.626G>A (p.Arg209His)
|
rs199790565
|
|
NM_001174150.2(ARL13B):c.629C>T (p.Ala210Val)
|
|
|
NM_001174150.2(ARL13B):c.680G>A (p.Arg227Gln)
|
|
|
NM_001174150.2(ARL13B):c.680_682del (p.Arg227_Glu228delinsGln)
|
rs1560004664
|
|
NM_001174150.2(ARL13B):c.682G>A (p.Glu228Lys)
|
rs752848590
|
|
NM_001174150.2(ARL13B):c.688A>G (p.Arg230Gly)
|
|
|
NM_001174150.2(ARL13B):c.70C>T (p.Leu24Phe)
|
|
|
NM_001174150.2(ARL13B):c.721G>T (p.Asp241Tyr)
|
|
|
NM_001174150.2(ARL13B):c.730A>G (p.Ser244Gly)
|
|
|
NM_001174150.2(ARL13B):c.76A>G (p.Met26Val)
|
|
|
NM_001174150.2(ARL13B):c.778A>G (p.Ile260Val)
|
|
|
NM_001174150.2(ARL13B):c.798+4T>C
|
|
|
NM_001174150.2(ARL13B):c.798G>A (p.Glu266=)
|
rs2076835930
|
|
NM_001174150.2(ARL13B):c.818G>C (p.Arg273Thr)
|
rs1560009891
|
|
NM_001174150.2(ARL13B):c.823A>G (p.Lys275Glu)
|
|
|
NM_001174150.2(ARL13B):c.830A>G (p.Asn277Ser)
|
rs142635985
|
|
NM_001174150.2(ARL13B):c.836A>T (p.Lys279Ile)
|
rs2076889650
|
|
NM_001174150.2(ARL13B):c.839T>C (p.Met280Thr)
|
rs876661075
|
|
NM_001174150.2(ARL13B):c.847G>C (p.Asp283His)
|
|
|
NM_001174150.2(ARL13B):c.884A>G (p.His295Arg)
|
rs2076891307
|
|
NM_001174150.2(ARL13B):c.898A>T (p.Thr300Ser)
|
rs2076891815
|
|
NM_001174150.2(ARL13B):c.899C>T (p.Thr300Ile)
|
|
|
NM_001174150.2(ARL13B):c.910G>A (p.Val304Ile)
|
|
|
NM_001174150.2(ARL13B):c.940T>G (p.Phe314Val)
|
rs2107152334
|
|
NM_001174150.2(ARL13B):c.959A>T (p.Tyr320Phe)
|
rs2076893582
|
|
NM_001174150.2(ARL13B):c.968C>T (p.Ala323Val)
|
rs2076893818
|
|
NM_001174150.2(ARL13B):c.995A>G (p.Asp332Gly)
|
rs1224858871
|
|
NM_001190787.3(MCIDAS):c.1001C>G (p.Ala334Gly)
|
rs1745333319
|
|
NM_001190787.3(MCIDAS):c.1054A>C (p.Ile352Leu)
|
rs1561114463
|
|
NM_001190787.3(MCIDAS):c.1076G>T (p.Arg359Leu)
|
rs1561114448
|
|
NM_001190787.3(MCIDAS):c.1091C>G (p.Pro364Arg)
|
|
|
NM_001190787.3(MCIDAS):c.109C>G (p.Pro37Ala)
|
|
|
NM_001190787.3(MCIDAS):c.1154G>T (p.Ser385Ile)
|
rs1745327756
|
|
NM_001190787.3(MCIDAS):c.139T>C (p.Phe47Leu)
|
rs2111703044
|
|
NM_001190787.3(MCIDAS):c.167C>T (p.Pro56Leu)
|
|
|
NM_001190787.3(MCIDAS):c.217+3G>A
|
|
|
NM_001190787.3(MCIDAS):c.226A>G (p.Thr76Ala)
|
|
|
NM_001190787.3(MCIDAS):c.268G>A (p.Gly90Arg)
|
|
|
NM_001190787.3(MCIDAS):c.268G>T (p.Gly90Trp)
|
|
|
NM_001190787.3(MCIDAS):c.275A>C (p.Asp92Ala)
|
rs1745458730
|
|
NM_001190787.3(MCIDAS):c.277G>A (p.Ala93Thr)
|
|
|
NM_001190787.3(MCIDAS):c.326C>T (p.Thr109Met)
|
rs1484403354
|
|
NM_001190787.3(MCIDAS):c.38C>A (p.Ala13Asp)
|
rs1745473127
|
|
NM_001190787.3(MCIDAS):c.422A>G (p.Asp141Gly)
|
rs759891799
|
|
NM_001190787.3(MCIDAS):c.512G>C (p.Arg171Pro)
|
rs1454466899
|
|
NM_001190787.3(MCIDAS):c.521A>G (p.Asp174Gly)
|
|
|
NM_001190787.3(MCIDAS):c.550G>A (p.Glu184Lys)
|
|
|
NM_001190787.3(MCIDAS):c.59A>G (p.Asn20Ser)
|
rs1745472814
|
|
NM_001190787.3(MCIDAS):c.604C>G (p.Gln202Glu)
|
rs2111692918
|
|
NM_001190787.3(MCIDAS):c.607-13T>G
|
|
|
NM_001190787.3(MCIDAS):c.638A>G (p.Glu213Gly)
|
rs878854270
|
|
NM_001190787.3(MCIDAS):c.643G>T (p.Ala215Ser)
|
rs1554019120
|
|
NM_001190787.3(MCIDAS):c.68T>C (p.Leu23Pro)
|
|
|
NM_001190787.3(MCIDAS):c.86C>A (p.Ala29Glu)
|
rs1207441843
|
|
NM_001190787.3(MCIDAS):c.8C>T (p.Ala3Val)
|
rs1268527093
|
|
NM_001190787.3(MCIDAS):c.950G>A (p.Gly317Glu)
|
|
|
NM_001199397.3(NEK1):c.1020+4T>C
|
|
|
NM_001199397.3(NEK1):c.1066A>T (p.Arg356Trp)
|
|
|
NM_001199397.3(NEK1):c.1075T>A (p.Ser359Thr)
|
|
|
NM_001199397.3(NEK1):c.1080+3A>G
|
|
|
NM_001199397.3(NEK1):c.1126A>G (p.Lys376Glu)
|
|
|
NM_001199397.3(NEK1):c.1140+3A>C
|
|
|
NM_001199397.3(NEK1):c.1142T>A (p.Ile381Asn)
|
|
|
NM_001199397.3(NEK1):c.1187A>G (p.Glu396Gly)
|
|
|
NM_001199397.3(NEK1):c.1191+5G>A
|
|
|
NM_001199397.3(NEK1):c.120G>A (p.Met40Ile)
|
|
|
NM_001199397.3(NEK1):c.1243G>A (p.Ala415Thr)
|
|
|
NM_001199397.3(NEK1):c.1249G>A (p.Gly417Arg)
|
|
|
NM_001199397.3(NEK1):c.1267-11T>G
|
|
|
NM_001199397.3(NEK1):c.1287A>G (p.Gly429=)
|
|
|
NM_001199397.3(NEK1):c.1294A>G (p.Ile432Val)
|
|
|
NM_001199397.3(NEK1):c.1301C>A (p.Pro434Gln)
|
|
|
NM_001199397.3(NEK1):c.1319G>A (p.Arg440Gln)
|
|
|
NM_001199397.3(NEK1):c.1352A>G (p.Asp451Gly)
|
|
|
NM_001199397.3(NEK1):c.1412G>A (p.Gly471Asp)
|
rs1418453971
|
|
NM_001199397.3(NEK1):c.1429A>G (p.Arg477Gly)
|
|
|
NM_001199397.3(NEK1):c.1430+19_1430+20delinsAG
|
|
|
NM_001199397.3(NEK1):c.1438C>G (p.Leu480Val)
|
|
|
NM_001199397.3(NEK1):c.1450C>T (p.Arg484Cys)
|
|
|
NM_001199397.3(NEK1):c.1451G>A (p.Arg484His)
|
rs201793759
|
|
NM_001199397.3(NEK1):c.1463C>T (p.Pro488Leu)
|
|
|
NM_001199397.3(NEK1):c.1469G>A (p.Gly490Glu)
|
|
|
NM_001199397.3(NEK1):c.1478G>A (p.Gly493Asp)
|
|
|
NM_001199397.3(NEK1):c.1509T>G (p.Ile503Met)
|
|
|
NM_001199397.3(NEK1):c.1520T>C (p.Leu507Ser)
|
|
|
NM_001199397.3(NEK1):c.1553A>C (p.Asn518Thr)
|
|
|
NM_001199397.3(NEK1):c.1553A>G (p.Asn518Ser)
|
|
|
NM_001199397.3(NEK1):c.1562+20T>G
|
rs2149908317
|
|
NM_001199397.3(NEK1):c.1573C>A (p.Gln525Lys)
|
|
|
NM_001199397.3(NEK1):c.1633A>T (p.Met545Leu)
|
rs1369670600
|
|
NM_001199397.3(NEK1):c.1634T>C (p.Met545Thr)
|
|
|
NM_001199397.3(NEK1):c.1634T>G (p.Met545Arg)
|
|
|
NM_001199397.3(NEK1):c.1639A>G (p.Asn547Asp)
|
|
|
NM_001199397.3(NEK1):c.1649G>A (p.Arg550Gln)
|
rs767374907
|
|
NM_001199397.3(NEK1):c.1753T>C (p.Tyr585His)
|
|
|
NM_001199397.3(NEK1):c.1787A>G (p.Asn596Ser)
|
|
|
NM_001199397.3(NEK1):c.1798C>T (p.Arg600Cys)
|
|
|
NM_001199397.3(NEK1):c.1816A>G (p.Lys606Glu)
|
|
|
NM_001199397.3(NEK1):c.1829_1830delinsGG (p.Glu610Gly)
|
|
|
NM_001199397.3(NEK1):c.1834-11T>A
|
|
|
NM_001199397.3(NEK1):c.1843A>G (p.Asn615Asp)
|
|
|
NM_001199397.3(NEK1):c.1888C>T (p.Arg630Cys)
|
|
|
NM_001199397.3(NEK1):c.1889G>A (p.Arg630His)
|
|
|
NM_001199397.3(NEK1):c.1900G>A (p.Glu634Lys)
|
|
|
NM_001199397.3(NEK1):c.1911+3A>G
|
|
|
NM_001199397.3(NEK1):c.1911+6G>C
|
|
|
NM_001199397.3(NEK1):c.1911G>A (p.Lys637=)
|
|
|
NM_001199397.3(NEK1):c.1916A>C (p.His639Pro)
|
rs1295340811
|
|
NM_001199397.3(NEK1):c.1942_1944delinsGGG (p.Lys648Gly)
|
|
|
NM_001199397.3(NEK1):c.1948C>A (p.Gln650Lys)
|
rs1753405258
|
|
NM_001199397.3(NEK1):c.194A>G (p.Gln65Arg)
|
rs1770585618
|
|
NM_001199397.3(NEK1):c.1952T>G (p.Leu651Arg)
|
|
|
NM_001199397.3(NEK1):c.1958G>A (p.Arg653Gln)
|
|
|
NM_001199397.3(NEK1):c.1967AGG[1] (p.Glu657del)
|
|
|
NM_001199397.3(NEK1):c.2042C>T (p.Ser681Phe)
|
|
|
NM_001199397.3(NEK1):c.2060A>G (p.His687Arg)
|
|
|
NM_001199397.3(NEK1):c.2125A>G (p.Lys709Glu)
|
|
|
NM_001199397.3(NEK1):c.2126A>G (p.Lys709Arg)
|
|
|
NM_001199397.3(NEK1):c.2137G>T (p.Val713Leu)
|
rs199827465
|
|
NM_001199397.3(NEK1):c.2146A>G (p.Ser716Gly)
|
|
|
NM_001199397.3(NEK1):c.2161C>G (p.Arg721Gly)
|
rs201726561
|
|
NM_001199397.3(NEK1):c.2194A>G (p.Asn732Asp)
|
|
|
NM_001199397.3(NEK1):c.2200A>G (p.Ile734Val)
|
|
|
NM_001199397.3(NEK1):c.2213G>A (p.Arg738Gln)
|
|
|
NM_001199397.3(NEK1):c.2243T>G (p.Leu748Arg)
|
|
|
NM_001199397.3(NEK1):c.2310A>C (p.Glu770Asp)
|
|
|
NM_001199397.3(NEK1):c.2323C>T (p.His775Tyr)
|
|
|
NM_001199397.3(NEK1):c.2344T>G (p.Ser782Ala)
|
|
|
NM_001199397.3(NEK1):c.2354G>A (p.Arg785His)
|
|
|
NM_001199397.3(NEK1):c.2371G>A (p.Gly791Arg)
|
|
|
NM_001199397.3(NEK1):c.238A>G (p.Met80Val)
|
rs1770058884
|
|
NM_001199397.3(NEK1):c.2390C>T (p.Pro797Leu)
|
|
|
NM_001199397.3(NEK1):c.2435-3T>C
|
|
|
NM_001199397.3(NEK1):c.2438A>G (p.His813Arg)
|
|
|
NM_001199397.3(NEK1):c.244T>A (p.Tyr82Asn)
|
rs1017114230
|
|
NM_001199397.3(NEK1):c.2489C>T (p.Ala830Val)
|
|
|
NM_001199397.3(NEK1):c.257G>A (p.Gly86Glu)
|
|
|
NM_001199397.3(NEK1):c.2587+3A>G
|
|
|
NM_001199397.3(NEK1):c.2588-4A>C
|
|
|
NM_001199397.3(NEK1):c.2599G>A (p.Glu867Lys)
|
|
|
NM_001199397.3(NEK1):c.2693T>C (p.Val898Ala)
|
|
|
NM_001199397.3(NEK1):c.2699C>A (p.Thr900Lys)
|
|
|
NM_001199397.3(NEK1):c.2715C>G (p.Phe905Leu)
|
rs2149425544
|
|
NM_001199397.3(NEK1):c.2725T>A (p.Ser909Thr)
|
|
|
NM_001199397.3(NEK1):c.2736G>A (p.Met912Ile)
|
|
|
NM_001199397.3(NEK1):c.2771A>G (p.Asp924Gly)
|
|
|
NM_001199397.3(NEK1):c.2797G>A (p.Glu933Lys)
|
rs1482298810
|
|
NM_001199397.3(NEK1):c.2825G>A (p.Ser942Asn)
|
rs2149410432
|
|
NM_001199397.3(NEK1):c.2894A>T (p.Asp965Val)
|
rs2111355616
|
|
NM_001199397.3(NEK1):c.2939C>T (p.Ser980Leu)
|
|
|
NM_001199397.3(NEK1):c.2974+5G>A
|
|
|
NM_001199397.3(NEK1):c.3072G>C (p.Leu1024Phe)
|
|
|
NM_001199397.3(NEK1):c.3086A>G (p.Gln1029Arg)
|
|
|
NM_001199397.3(NEK1):c.3092A>G (p.Gln1031Arg)
|
|
|
NM_001199397.3(NEK1):c.309T>A (p.Asp103Glu)
|
|
|
NM_001199397.3(NEK1):c.3102G>T (p.Gln1034His)
|
|
|
NM_001199397.3(NEK1):c.3121T>C (p.Phe1041Leu)
|
|
|
NM_001199397.3(NEK1):c.3154A>G (p.Lys1052Glu)
|
|
|
NM_001199397.3(NEK1):c.3275T>C (p.Met1092Thr)
|
rs1286963475
|
|
NM_001199397.3(NEK1):c.3283C>G (p.Pro1095Ala)
|
|
|
NM_001199397.3(NEK1):c.3302G>A (p.Arg1101His)
|
|
|
NM_001199397.3(NEK1):c.3311A>G (p.Asn1104Ser)
|
|
|
NM_001199397.3(NEK1):c.3335A>C (p.Asp1112Ala)
|
|
|
NM_001199397.3(NEK1):c.3335A>G (p.Asp1112Gly)
|
|
|
NM_001199397.3(NEK1):c.3343A>C (p.Ile1115Leu)
|
|
|
NM_001199397.3(NEK1):c.3374+5G>A
|
rs1167084363
|
|
NM_001199397.3(NEK1):c.3395C>T (p.Thr1132Ile)
|
|
|
NM_001199397.3(NEK1):c.344C>T (p.Ala115Val)
|
rs1581011769
|
|
NM_001199397.3(NEK1):c.3465AGA[2] (p.Glu1158del)
|
|
|
NM_001199397.3(NEK1):c.3542A>G (p.Asn1181Ser)
|
rs766289659
|
|
NM_001199397.3(NEK1):c.3568G>A (p.Glu1190Lys)
|
|
|
NM_001199397.3(NEK1):c.3584A>T (p.Asp1195Val)
|
|
|
NM_001199397.3(NEK1):c.3595G>A (p.Gly1199Ser)
|
|
|
NM_001199397.3(NEK1):c.3607A>T (p.Ser1203Cys)
|
|
|
NM_001199397.3(NEK1):c.3710T>C (p.Ile1237Thr)
|
|
|
NM_001199397.3(NEK1):c.3715-7G>A
|
|
|
NM_001199397.3(NEK1):c.3727G>A (p.Asp1243Asn)
|
|
|
NM_001199397.3(NEK1):c.3727G>T (p.Asp1243Tyr)
|
|
|
NM_001199397.3(NEK1):c.3770A>G (p.Asn1257Ser)
|
|
|
NM_001199397.3(NEK1):c.3772A>G (p.Ile1258Val)
|
|
|
NM_001199397.3(NEK1):c.3783T>G (p.Asn1261Lys)
|
|
|
NM_001199397.3(NEK1):c.3794A>G (p.His1265Arg)
|
|
|
NM_001199397.3(NEK1):c.3806A>T (p.Lys1269Met)
|
|
|
NM_001199397.3(NEK1):c.3850A>G (p.Asn1284Asp)
|
|
|
NM_001199397.3(NEK1):c.465T>C (p.Ser155=)
|
rs1234437874
|
|
NM_001199397.3(NEK1):c.482G>A (p.Arg161Gln)
|
|
|
NM_001199397.3(NEK1):c.488G>C (p.Cys163Ser)
|
|
|
NM_001199397.3(NEK1):c.490A>G (p.Ile164Val)
|
|
|
NM_001199397.3(NEK1):c.52G>A (p.Ala18Thr)
|
|
|
NM_001199397.3(NEK1):c.535C>G (p.Pro179Ala)
|
|
|
NM_001199397.3(NEK1):c.58C>T (p.Leu20Phe)
|
rs2150141098
|
|
NM_001199397.3(NEK1):c.593C>A (p.Thr198Lys)
|
|
|
NM_001199397.3(NEK1):c.604G>T (p.Ala202Ser)
|
rs780091818
|
|
NM_001199397.3(NEK1):c.644T>G (p.Ile215Arg)
|
|
|
NM_001199397.3(NEK1):c.676C>T (p.His226Tyr)
|
|
|
NM_001199397.3(NEK1):c.67T>C (p.Ser23Pro)
|
|
|
NM_001199397.3(NEK1):c.694C>T (p.Arg232Cys)
|
|
|
NM_001199397.3(NEK1):c.715T>G (p.Phe239Val)
|
rs2150071108
|
|
NM_001199397.3(NEK1):c.77A>G (p.Asp26Gly)
|
|
|
NM_001199397.3(NEK1):c.782G>T (p.Arg261Leu)
|
|
|
NM_001199397.3(NEK1):c.842C>T (p.Ser281Leu)
|
|
|
NM_001199397.3(NEK1):c.887G>A (p.Gly296Glu)
|
|
|
NM_001199397.3(NEK1):c.8A>G (p.Lys3Arg)
|
rs2150141268
|
|
NM_001199397.3(NEK1):c.904G>C (p.Val302Leu)
|
|
|
NM_001199397.3(NEK1):c.953C>T (p.Pro318Leu)
|
|
|
NM_001206927.2(DNAH8):c.10042C>A (p.Gln3348Lys)
|
rs1781220169
|
|
NM_001206927.2(DNAH8):c.10042C>G (p.Gln3348Glu)
|
|
|
NM_001206927.2(DNAH8):c.10081G>A (p.Ala3361Thr)
|
|
|
NM_001206927.2(DNAH8):c.10102G>C (p.Ala3368Pro)
|
|
|
NM_001206927.2(DNAH8):c.10147A>G (p.Lys3383Glu)
|
|
|
NM_001206927.2(DNAH8):c.10233T>G (p.Phe3411Leu)
|
rs1180672703
|
|
NM_001206927.2(DNAH8):c.10286C>T (p.Pro3429Leu)
|
rs1024708882
|
|
NM_001206927.2(DNAH8):c.10339C>T (p.Leu3447Phe)
|
|
|
NM_001206927.2(DNAH8):c.10346A>C (p.Gln3449Pro)
|
|
|
NM_001206927.2(DNAH8):c.10378G>A (p.Val3460Ile)
|
|
|
NM_001206927.2(DNAH8):c.10409A>G (p.Asp3470Gly)
|
|
|
NM_001206927.2(DNAH8):c.10421T>C (p.Phe3474Ser)
|
rs538936217
|
|
NM_001206927.2(DNAH8):c.10433A>G (p.Lys3478Arg)
|
|
|
NM_001206927.2(DNAH8):c.10436A>C (p.Lys3479Thr)
|
|
|
NM_001206927.2(DNAH8):c.10437A>T (p.Lys3479Asn)
|
|
|
NM_001206927.2(DNAH8):c.10447A>T (p.Asn3483Tyr)
|
|
|
NM_001206927.2(DNAH8):c.10501A>G (p.Asn3501Asp)
|
rs2150548095
|
|
NM_001206927.2(DNAH8):c.10547G>T (p.Gly3516Val)
|
rs751256547
|
|
NM_001206927.2(DNAH8):c.10550G>A (p.Arg3517Gln)
|
|
|
NM_001206927.2(DNAH8):c.10610C>A (p.Ala3537Asp)
|
|
|
NM_001206927.2(DNAH8):c.10624G>T (p.Val3542Leu)
|
|
|
NM_001206927.2(DNAH8):c.10690C>T (p.Arg3564Trp)
|
rs748121138
|
|
NM_001206927.2(DNAH8):c.10691G>A (p.Arg3564Gln)
|
|
|
NM_001206927.2(DNAH8):c.1070A>G (p.His357Arg)
|
rs1207890931
|
|
NM_001206927.2(DNAH8):c.10795G>A (p.Val3599Ile)
|
rs150171166
|
|
NM_001206927.2(DNAH8):c.10820G>T (p.Gly3607Val)
|
|
|
NM_001206927.2(DNAH8):c.10832A>T (p.Tyr3611Phe)
|
rs2150561619
|
|
NM_001206927.2(DNAH8):c.10837G>A (p.Gly3613Ser)
|
|
|
NM_001206927.2(DNAH8):c.10841C>T (p.Pro3614Leu)
|
|
|
NM_001206927.2(DNAH8):c.10942A>G (p.Met3648Val)
|
|
|
NM_001206927.2(DNAH8):c.10950G>T (p.Val3650=)
|
|
|
NM_001206927.2(DNAH8):c.10961C>T (p.Thr3654Ile)
|
|
|
NM_001206927.2(DNAH8):c.1100A>G (p.Tyr367Cys)
|
|
|
NM_001206927.2(DNAH8):c.11045A>T (p.Tyr3682Phe)
|
rs746378835
|
|
NM_001206927.2(DNAH8):c.11076C>T (p.Gly3692=)
|
|
|
NM_001206927.2(DNAH8):c.11119-3del
|
|
|
NM_001206927.2(DNAH8):c.1116+4A>T
|
|
|
NM_001206927.2(DNAH8):c.11161G>A (p.Asp3721Asn)
|
|
|
NM_001206927.2(DNAH8):c.11162A>G (p.Asp3721Gly)
|
|
|
NM_001206927.2(DNAH8):c.11182C>G (p.Pro3728Ala)
|
rs138016358
|
|
NM_001206927.2(DNAH8):c.1124T>A (p.Ile375Asn)
|
|
|
NM_001206927.2(DNAH8):c.112A>G (p.Thr38Ala)
|
rs778551218
|
|
NM_001206927.2(DNAH8):c.11342C>T (p.Pro3781Leu)
|
|
|
NM_001206927.2(DNAH8):c.11367T>G (p.Ile3789Met)
|
|
|
NM_001206927.2(DNAH8):c.11404A>G (p.Met3802Val)
|
|
|
NM_001206927.2(DNAH8):c.11429T>G (p.Leu3810Arg)
|
|
|
NM_001206927.2(DNAH8):c.11440A>G (p.Ile3814Val)
|
|
|
NM_001206927.2(DNAH8):c.11458-6T>A
|
rs2150585934
|
|
NM_001206927.2(DNAH8):c.11471A>G (p.Glu3824Gly)
|
rs765005496
|
|
NM_001206927.2(DNAH8):c.11476G>T (p.Val3826Phe)
|
|
|
NM_001206927.2(DNAH8):c.11572G>A (p.Val3858Ile)
|
rs1783104585
|
|
NM_001206927.2(DNAH8):c.11618C>T (p.Thr3873Ile)
|
|
|
NM_001206927.2(DNAH8):c.11645A>G (p.His3882Arg)
|
rs1459344355
|
|
NM_001206927.2(DNAH8):c.11645A>T (p.His3882Leu)
|
|
|
NM_001206927.2(DNAH8):c.11698C>T (p.Pro3900Ser)
|
rs2150592662
|
|
NM_001206927.2(DNAH8):c.11710C>T (p.Arg3904Cys)
|
|
|
NM_001206927.2(DNAH8):c.11726A>G (p.Tyr3909Cys)
|
|
|
NM_001206927.2(DNAH8):c.11726A>T (p.Tyr3909Phe)
|
|
|
NM_001206927.2(DNAH8):c.11729T>C (p.Phe3910Ser)
|
rs375158290
|
|
NM_001206927.2(DNAH8):c.11729T>G (p.Phe3910Cys)
|
rs375158290
|
|
NM_001206927.2(DNAH8):c.11735T>G (p.Ile3912Ser)
|
|
|
NM_001206927.2(DNAH8):c.11747G>A (p.Ser3916Asn)
|
rs2150592878
|
|
NM_001206927.2(DNAH8):c.11758A>T (p.Ile3920Phe)
|
|
|
NM_001206927.2(DNAH8):c.11819C>T (p.Ser3940Phe)
|
rs182335901
|
|
NM_001206927.2(DNAH8):c.1182A>T (p.Glu394Asp)
|
|
|
NM_001206927.2(DNAH8):c.11855A>G (p.Asn3952Ser)
|
|
|
NM_001206927.2(DNAH8):c.11878G>A (p.Glu3960Lys)
|
|
|
NM_001206927.2(DNAH8):c.11913A>T (p.Glu3971Asp)
|
|
|
NM_001206927.2(DNAH8):c.1193G>A (p.Arg398His)
|
rs1051264232
|
|
NM_001206927.2(DNAH8):c.11953A>G (p.Ile3985Val)
|
rs1305810294
|
|
NM_001206927.2(DNAH8):c.12011G>A (p.Gly4004Glu)
|
rs1472264977
|
|
NM_001206927.2(DNAH8):c.12040C>G (p.Pro4014Ala)
|
|
|
NM_001206927.2(DNAH8):c.12043A>G (p.Lys4015Glu)
|
|
|
NM_001206927.2(DNAH8):c.1204A>G (p.Lys402Glu)
|
|
|
NM_001206927.2(DNAH8):c.12053G>A (p.Arg4018His)
|
|
|
NM_001206927.2(DNAH8):c.12130-3T>G
|
|
|
NM_001206927.2(DNAH8):c.12136C>T (p.Arg4046Cys)
|
|
|
NM_001206927.2(DNAH8):c.12190A>T (p.Ile4064Phe)
|
rs1583435965
|
|
NM_001206927.2(DNAH8):c.12247A>G (p.Arg4083Gly)
|
|
|
NM_001206927.2(DNAH8):c.12263A>G (p.Asp4088Gly)
|
|
|
NM_001206927.2(DNAH8):c.12269C>T (p.Thr4090Ile)
|
rs1583440880
|
|
NM_001206927.2(DNAH8):c.12298G>C (p.Asp4100His)
|
|
|
NM_001206927.2(DNAH8):c.12376C>T (p.Pro4126Ser)
|
|
|
NM_001206927.2(DNAH8):c.12377C>G (p.Pro4126Arg)
|
rs1273805892
|
|
NM_001206927.2(DNAH8):c.1241G>C (p.Ser414Thr)
|
|
|
NM_001206927.2(DNAH8):c.12492T>G (p.His4164Gln)
|
|
|
NM_001206927.2(DNAH8):c.12511A>T (p.Met4171Leu)
|
|
|
NM_001206927.2(DNAH8):c.12525+3_12525+4delinsTA
|
|
|
NM_001206927.2(DNAH8):c.12601A>G (p.Thr4201Ala)
|
|
|
NM_001206927.2(DNAH8):c.12618T>G (p.Asp4206Glu)
|
|
|
NM_001206927.2(DNAH8):c.12671T>C (p.Leu4224Ser)
|
rs1297563537
|
|
NM_001206927.2(DNAH8):c.12718C>T (p.Arg4240Cys)
|
|
|
NM_001206927.2(DNAH8):c.12751A>C (p.Asn4251His)
|
rs968299201
|
|
NM_001206927.2(DNAH8):c.12800T>C (p.Leu4267Pro)
|
rs2150696793
|
|
NM_001206927.2(DNAH8):c.12854C>G (p.Pro4285Arg)
|
|
|
NM_001206927.2(DNAH8):c.12884A>G (p.Asn4295Ser)
|
rs1583501877
|
|
NM_001206927.2(DNAH8):c.12952G>T (p.Gly4318Cys)
|
rs1427875858
|
|
NM_001206927.2(DNAH8):c.12955G>T (p.Val4319Leu)
|
rs759963989
|
|
NM_001206927.2(DNAH8):c.12968C>A (p.Thr4323Lys)
|
|
|
NM_001206927.2(DNAH8):c.13052G>A (p.Arg4351Lys)
|
|
|
NM_001206927.2(DNAH8):c.13067AGA[1] (p.Lys4357del)
|
|
|
NM_001206927.2(DNAH8):c.13069A>G (p.Lys4357Glu)
|
rs139250593
|
|
NM_001206927.2(DNAH8):c.13176C>A (p.Asn4392Lys)
|
|
|
NM_001206927.2(DNAH8):c.13219C>G (p.Gln4407Glu)
|
|
|
NM_001206927.2(DNAH8):c.13228A>G (p.Thr4410Ala)
|
|
|
NM_001206927.2(DNAH8):c.1322C>G (p.Thr441Ser)
|
rs2127595057
|
|
NM_001206927.2(DNAH8):c.13288G>A (p.Val4430Met)
|
rs1765985930
|
|
NM_001206927.2(DNAH8):c.13289T>C (p.Val4430Ala)
|
|
|
NM_001206927.2(DNAH8):c.13352C>T (p.Pro4451Leu)
|
rs1173362541
|
|
NM_001206927.2(DNAH8):c.13371+4A>G
|
rs1765994363
|
|
NM_001206927.2(DNAH8):c.13378T>A (p.Ser4460Thr)
|
rs1488366198
|
|
NM_001206927.2(DNAH8):c.13431A>G (p.Gln4477=)
|
rs1766263823
|
|
NM_001206927.2(DNAH8):c.13444A>C (p.Met4482Leu)
|
|
|
NM_001206927.2(DNAH8):c.13462A>C (p.Ile4488Leu)
|
rs10484847
|
|
NM_001206927.2(DNAH8):c.13469G>A (p.Arg4490His)
|
|
|
NM_001206927.2(DNAH8):c.13499T>C (p.Ile4500Thr)
|
|
|
NM_001206927.2(DNAH8):c.1351G>A (p.Val451Ile)
|
|
|
NM_001206927.2(DNAH8):c.13553A>G (p.Tyr4518Cys)
|
|
|
NM_001206927.2(DNAH8):c.13562G>A (p.Arg4521His)
|
|
|
NM_001206927.2(DNAH8):c.13568C>T (p.Pro4523Leu)
|
|
|
NM_001206927.2(DNAH8):c.13608G>A (p.Leu4536=)
|
rs1766286962
|
|
NM_001206927.2(DNAH8):c.13622C>A (p.Thr4541Asn)
|
|
|
NM_001206927.2(DNAH8):c.13714+4T>C
|
rs2150773744
|
|
NM_001206927.2(DNAH8):c.13715-2dup
|
|
|
NM_001206927.2(DNAH8):c.13715-3A>G
|
|
|
NM_001206927.2(DNAH8):c.13753C>T (p.His4585Tyr)
|
|
|
NM_001206927.2(DNAH8):c.13766C>T (p.Ala4589Val)
|
rs2150800992
|
|
NM_001206927.2(DNAH8):c.13784T>C (p.Ile4595Thr)
|
|
|
NM_001206927.2(DNAH8):c.13792G>A (p.Glu4598Lys)
|
rs1554166182
|
|
NM_001206927.2(DNAH8):c.137_160del (p.Gly46_Asp53del)
|
rs774952820
|
|
NM_001206927.2(DNAH8):c.137_160dup (p.Gly46_Asp53dup)
|
rs774952820
|
|
NM_001206927.2(DNAH8):c.13838A>T (p.Glu4613Val)
|
rs375455553
|
|
NM_001206927.2(DNAH8):c.13841G>A (p.Gly4614Asp)
|
|
|
NM_001206927.2(DNAH8):c.13859T>A (p.Leu4620His)
|
|
|
NM_001206927.2(DNAH8):c.13894G>A (p.Gly4632Arg)
|
|
|
NM_001206927.2(DNAH8):c.13944_13945insAAGTTA (p.Val4648_Leu4649insLysLeu)
|
rs1561993508
|
|
NM_001206927.2(DNAH8):c.13966T>G (p.Ser4656Ala)
|
|
|
NM_001206927.2(DNAH8):c.14017C>G (p.Pro4673Ala)
|
rs144993102
|
|
NM_001206927.2(DNAH8):c.14023C>G (p.Arg4675Gly)
|
|
|
NM_001206927.2(DNAH8):c.1402G>A (p.Asp468Asn)
|
|
|
NM_001206927.2(DNAH8):c.14060G>C (p.Arg4687Pro)
|
|
|
NM_001206927.2(DNAH8):c.1407+3A>G
|
rs1204749351
|
|
NM_001206927.2(DNAH8):c.1414A>G (p.Met472Val)
|
|
|
NM_001206927.2(DNAH8):c.1460A>C (p.His487Pro)
|
rs2127600635
|
|
NM_001206927.2(DNAH8):c.1478A>C (p.Tyr493Ser)
|
|
|
NM_001206927.2(DNAH8):c.1515+3A>G
|
rs1765881145
|
|
NM_001206927.2(DNAH8):c.1523A>G (p.Asn508Ser)
|
|
|
NM_001206927.2(DNAH8):c.155A>G (p.Glu52Gly)
|
|
|
NM_001206927.2(DNAH8):c.1592C>T (p.Thr531Met)
|
rs376907315
|
|
NM_001206927.2(DNAH8):c.1618G>T (p.Asp540Tyr)
|
|
|
NM_001206927.2(DNAH8):c.1636A>G (p.Lys546Glu)
|
rs1056745711
|
|
NM_001206927.2(DNAH8):c.1648G>A (p.Ala550Thr)
|
|
|
NM_001206927.2(DNAH8):c.1702T>G (p.Phe568Val)
|
|
|
NM_001206927.2(DNAH8):c.1715A>G (p.Glu572Gly)
|
rs2127621449
|
|
NM_001206927.2(DNAH8):c.1734A>T (p.Lys578Asn)
|
|
|
NM_001206927.2(DNAH8):c.1767T>G (p.Ile589Met)
|
|
|
NM_001206927.2(DNAH8):c.1835T>A (p.Ile612Asn)
|
|
|
NM_001206927.2(DNAH8):c.1891A>C (p.Ile631Leu)
|
|
|
NM_001206927.2(DNAH8):c.1902AAG[1] (p.Arg636del)
|
|
|
NM_001206927.2(DNAH8):c.1946_1948dup (p.Lys649dup)
|
rs2127630927
|
|
NM_001206927.2(DNAH8):c.1963G>A (p.Val655Ile)
|
|
|
NM_001206927.2(DNAH8):c.1983G>A (p.Met661Ile)
|
|
|
NM_001206927.2(DNAH8):c.2059C>T (p.Pro687Ser)
|
rs774984318
|
|
NM_001206927.2(DNAH8):c.2062T>C (p.Cys688Arg)
|
|
|
NM_001206927.2(DNAH8):c.2140-20C>G
|
|
|
NM_001206927.2(DNAH8):c.2146C>A (p.His716Asn)
|
|
|
NM_001206927.2(DNAH8):c.2182A>G (p.Met728Val)
|
|
|
NM_001206927.2(DNAH8):c.2185C>T (p.Pro729Ser)
|
|
|
NM_001206927.2(DNAH8):c.2191A>G (p.Ile731Val)
|
|
|
NM_001206927.2(DNAH8):c.2203A>G (p.Ile735Val)
|
rs2127639812
|
|
NM_001206927.2(DNAH8):c.2215A>G (p.Arg739Gly)
|
rs1193834845
|
|
NM_001206927.2(DNAH8):c.2227C>T (p.Arg743Cys)
|
|
|
NM_001206927.2(DNAH8):c.2297C>G (p.Ala766Gly)
|
|
|
NM_001206927.2(DNAH8):c.229C>T (p.His77Tyr)
|
rs1357378794
|
|
NM_001206927.2(DNAH8):c.2305C>T (p.Arg769Cys)
|
|
|
NM_001206927.2(DNAH8):c.2362G>T (p.Ala788Ser)
|
|
|
NM_001206927.2(DNAH8):c.236C>T (p.Ala79Val)
|
|
|
NM_001206927.2(DNAH8):c.2395G>A (p.Ala799Thr)
|
|
|
NM_001206927.2(DNAH8):c.2513A>G (p.Asp838Gly)
|
|
|
NM_001206927.2(DNAH8):c.2528C>A (p.Ala843Glu)
|
|
|
NM_001206927.2(DNAH8):c.2583+6A>G
|
|
|
NM_001206927.2(DNAH8):c.2664+7A>T
|
|
|
NM_001206927.2(DNAH8):c.2671T>A (p.Ser891Thr)
|
rs1769598046
|
|
NM_001206927.2(DNAH8):c.2681G>A (p.Arg894Lys)
|
|
|
NM_001206927.2(DNAH8):c.2690T>C (p.Leu897Pro)
|
|
|
NM_001206927.2(DNAH8):c.2756A>G (p.Asp919Gly)
|
|
|
NM_001206927.2(DNAH8):c.275C>T (p.Pro92Leu)
|
|
|
NM_001206927.2(DNAH8):c.2765A>G (p.Asn922Ser)
|
|
|
NM_001206927.2(DNAH8):c.2818C>A (p.Leu940Met)
|
|
|
NM_001206927.2(DNAH8):c.2818C>G (p.Leu940Val)
|
|
|
NM_001206927.2(DNAH8):c.2885T>C (p.Met962Thr)
|
rs1251689327
|
|
NM_001206927.2(DNAH8):c.2926A>G (p.Ile976Val)
|
|
|
NM_001206927.2(DNAH8):c.2945A>G (p.Lys982Arg)
|
rs2150296679
|
|
NM_001206927.2(DNAH8):c.2956G>C (p.Glu986Gln)
|
|
|
NM_001206927.2(DNAH8):c.2996A>T (p.Tyr999Phe)
|
|
|
NM_001206927.2(DNAH8):c.2999A>T (p.Glu1000Val)
|
rs1770947275
|
|
NM_001206927.2(DNAH8):c.3035-3T>C
|
rs1771183616
|
|
NM_001206927.2(DNAH8):c.3049G>A (p.Val1017Ile)
|
|
|
NM_001206927.2(DNAH8):c.310C>T (p.Pro104Ser)
|
|
|
NM_001206927.2(DNAH8):c.3128A>T (p.Asp1043Val)
|
|
|
NM_001206927.2(DNAH8):c.3155G>T (p.Cys1052Phe)
|
|
|
NM_001206927.2(DNAH8):c.3190C>G (p.Leu1064Val)
|
|
|
NM_001206927.2(DNAH8):c.3192A>G (p.Leu1064=)
|
|
|
NM_001206927.2(DNAH8):c.319C>G (p.Arg107Gly)
|
rs2127565118
|
|
NM_001206927.2(DNAH8):c.3215G>A (p.Arg1072Gln)
|
rs201654193
|
|
NM_001206927.2(DNAH8):c.3215G>T (p.Arg1072Leu)
|
rs201654193
|
|
NM_001206927.2(DNAH8):c.3232A>G (p.Met1078Val)
|
rs1426079117
|
|
NM_001206927.2(DNAH8):c.326C>T (p.Ser109Phe)
|
|
|
NM_001206927.2(DNAH8):c.3293C>T (p.Ser1098Phe)
|
|
|
NM_001206927.2(DNAH8):c.3344C>T (p.Pro1115Leu)
|
rs754333679
|
|
NM_001206927.2(DNAH8):c.3404G>A (p.Ser1135Asn)
|
|
|
NM_001206927.2(DNAH8):c.340C>T (p.Arg114Trp)
|
rs542057474
|
|
NM_001206927.2(DNAH8):c.3413T>A (p.Val1138Glu)
|
rs1554218874
|
|
NM_001206927.2(DNAH8):c.3440G>A (p.Arg1147His)
|
|
|
NM_001206927.2(DNAH8):c.3548C>T (p.Ala1183Val)
|
rs760404927
|
|
NM_001206927.2(DNAH8):c.3561G>T (p.Lys1187Asn)
|
rs763348835
|
|
NM_001206927.2(DNAH8):c.3569A>C (p.Tyr1190Ser)
|
|
|
NM_001206927.2(DNAH8):c.3616C>T (p.Leu1206Phe)
|
|
|
NM_001206927.2(DNAH8):c.3625T>C (p.Ser1209Pro)
|
|
|
NM_001206927.2(DNAH8):c.3662T>G (p.Leu1221Arg)
|
rs868651177
|
|
NM_001206927.2(DNAH8):c.3686C>G (p.Thr1229Ser)
|
|
|
NM_001206927.2(DNAH8):c.3689T>C (p.Leu1230Pro)
|
|
|
NM_001206927.2(DNAH8):c.3706G>A (p.Asp1236Asn)
|
rs201420305
|
|
NM_001206927.2(DNAH8):c.3731C>T (p.Ala1244Val)
|
|
|
NM_001206927.2(DNAH8):c.3773A>G (p.His1258Arg)
|
rs1773065752
|
|
NM_001206927.2(DNAH8):c.37G>A (p.Gly13Arg)
|
|
|
NM_001206927.2(DNAH8):c.3848-3C>G
|
rs1053217536
|
|
NM_001206927.2(DNAH8):c.3894G>A (p.Met1298Ile)
|
|
|
NM_001206927.2(DNAH8):c.390+5G>C
|
|
|
NM_001206927.2(DNAH8):c.4036A>G (p.Ile1346Val)
|
|
|
NM_001206927.2(DNAH8):c.4096A>G (p.Ile1366Val)
|
|
|
NM_001206927.2(DNAH8):c.4133A>T (p.Glu1378Val)
|
|
|
NM_001206927.2(DNAH8):c.4189-3T>C
|
|
|
NM_001206927.2(DNAH8):c.4235G>A (p.Ser1412Asn)
|
rs1204156273
|
|
NM_001206927.2(DNAH8):c.4244T>C (p.Leu1415Pro)
|
|
|
NM_001206927.2(DNAH8):c.4322A>G (p.Asn1441Ser)
|
|
|
NM_001206927.2(DNAH8):c.4345A>C (p.Asn1449His)
|
|
|
NM_001206927.2(DNAH8):c.4354C>A (p.Gln1452Lys)
|
rs1774128346
|
|
NM_001206927.2(DNAH8):c.4375G>T (p.Asp1459Tyr)
|
|
|
NM_001206927.2(DNAH8):c.4399A>G (p.Thr1467Ala)
|
rs2150363702
|
|
NM_001206927.2(DNAH8):c.4463C>T (p.Thr1488Ile)
|
|
|
NM_001206927.2(DNAH8):c.453A>G (p.Ile151Met)
|
|
|
NM_001206927.2(DNAH8):c.4543A>G (p.Ile1515Val)
|
rs1554226304
|
|
NM_001206927.2(DNAH8):c.4610G>T (p.Arg1537Leu)
|
rs375507271
|
|
NM_001206927.2(DNAH8):c.4641A>C (p.Gln1547His)
|
|
|
NM_001206927.2(DNAH8):c.4700A>C (p.Glu1567Ala)
|
rs1774924293
|
|
NM_001206927.2(DNAH8):c.4721T>C (p.Met1574Thr)
|
|
|
NM_001206927.2(DNAH8):c.4748C>G (p.Ser1583Cys)
|
|
|
NM_001206927.2(DNAH8):c.4835A>G (p.Asp1612Gly)
|
|
|
NM_001206927.2(DNAH8):c.4842T>G (p.Ile1614Met)
|
|
|
NM_001206927.2(DNAH8):c.4846G>T (p.Asp1616Tyr)
|
|
|
NM_001206927.2(DNAH8):c.4847A>G (p.Asp1616Gly)
|
rs943252271
|
|
NM_001206927.2(DNAH8):c.4847A>T (p.Asp1616Val)
|
rs943252271
|
|
NM_001206927.2(DNAH8):c.4852T>C (p.Cys1618Arg)
|
rs1411389193
|
|
NM_001206927.2(DNAH8):c.4889A>G (p.Lys1630Arg)
|
|
|
NM_001206927.2(DNAH8):c.4916C>T (p.Thr1639Ile)
|
rs1209612162
|
|
NM_001206927.2(DNAH8):c.4939G>A (p.Ala1647Thr)
|
|
|
NM_001206927.2(DNAH8):c.497T>A (p.Val166Asp)
|
rs374691452
|
|
NM_001206927.2(DNAH8):c.4982C>T (p.Ser1661Leu)
|
|
|
NM_001206927.2(DNAH8):c.5045+3A>G
|
|
|
NM_001206927.2(DNAH8):c.5061T>A (p.Phe1687Leu)
|
|
|
NM_001206927.2(DNAH8):c.5140C>G (p.Leu1714Val)
|
rs1060501470
|
|
NM_001206927.2(DNAH8):c.517T>C (p.Cys173Arg)
|
|
|
NM_001206927.2(DNAH8):c.5237T>A (p.Ile1746Lys)
|
rs762401941
|
|
NM_001206927.2(DNAH8):c.5252G>A (p.Arg1751Gln)
|
|
|
NM_001206927.2(DNAH8):c.5275A>G (p.Ile1759Val)
|
|
|
NM_001206927.2(DNAH8):c.5363+4A>T
|
|
|
NM_001206927.2(DNAH8):c.5381G>A (p.Arg1794Gln)
|
rs746134358
|
|
NM_001206927.2(DNAH8):c.5399T>A (p.Phe1800Tyr)
|
|
|
NM_001206927.2(DNAH8):c.5410T>A (p.Ser1804Thr)
|
|
|
NM_001206927.2(DNAH8):c.5442A>G (p.Gln1814=)
|
rs1345770391
|
|
NM_001206927.2(DNAH8):c.5446A>G (p.Ser1816Gly)
|
rs2150389160
|
|
NM_001206927.2(DNAH8):c.5468C>A (p.Pro1823Gln)
|
|
|
NM_001206927.2(DNAH8):c.5515G>A (p.Ala1839Thr)
|
rs756190655
|
|
NM_001206927.2(DNAH8):c.551C>T (p.Ala184Val)
|
|
|
NM_001206927.2(DNAH8):c.5525A>G (p.Tyr1842Cys)
|
|
|
NM_001206927.2(DNAH8):c.5561A>G (p.Glu1854Gly)
|
rs1775863611
|
|
NM_001206927.2(DNAH8):c.5571_5571+2del
|
|
|
NM_001206927.2(DNAH8):c.5572-16T>G
|
|
|
NM_001206927.2(DNAH8):c.5572-19_5572-18delinsTA
|
|
|
NM_001206927.2(DNAH8):c.5584G>T (p.Val1862Phe)
|
|
|
NM_001206927.2(DNAH8):c.5618T>C (p.Leu1873Pro)
|
|
|
NM_001206927.2(DNAH8):c.5702T>C (p.Leu1901Pro)
|
rs2150392730
|
|
NM_001206927.2(DNAH8):c.5707C>G (p.Pro1903Ala)
|
|
|
NM_001206927.2(DNAH8):c.5734-10G>A
|
|
|
NM_001206927.2(DNAH8):c.5740C>T (p.Leu1914Phe)
|
|
|
NM_001206927.2(DNAH8):c.5768_5769delinsTT (p.His1923Leu)
|
|
|
NM_001206927.2(DNAH8):c.5769C>A (p.His1923Gln)
|
rs2061907
|
|
NM_001206927.2(DNAH8):c.5821G>A (p.Val1941Met)
|
rs2150401217
|
|
NM_001206927.2(DNAH8):c.5828A>T (p.Asn1943Ile)
|
|
|
NM_001206927.2(DNAH8):c.5872A>G (p.Thr1958Ala)
|
|
|
NM_001206927.2(DNAH8):c.5880T>G (p.Asp1960Glu)
|
|
|
NM_001206927.2(DNAH8):c.5971A>G (p.Ile1991Val)
|
|
|
NM_001206927.2(DNAH8):c.6058G>C (p.Asp2020His)
|
|
|
NM_001206927.2(DNAH8):c.6104G>A (p.Arg2035His)
|
|
|
NM_001206927.2(DNAH8):c.619C>G (p.Arg207Gly)
|
|
|
NM_001206927.2(DNAH8):c.6214A>G (p.Thr2072Ala)
|
|
|
NM_001206927.2(DNAH8):c.6239T>C (p.Leu2080Ser)
|
rs1776704936
|
|
NM_001206927.2(DNAH8):c.6288A>C (p.Arg2096Ser)
|
|
|
NM_001206927.2(DNAH8):c.6292C>T (p.Leu2098=)
|
|
|
NM_001206927.2(DNAH8):c.6325G>T (p.Gly2109Cys)
|
rs748575207
|
|
NM_001206927.2(DNAH8):c.6334G>A (p.Gly2112Ser)
|
|
|
NM_001206927.2(DNAH8):c.6401T>G (p.Ile2134Ser)
|
rs1776841560
|
|
NM_001206927.2(DNAH8):c.6421G>A (p.Glu2141Lys)
|
|
|
NM_001206927.2(DNAH8):c.6433_6434delinsAG (p.Gln2145Arg)
|
rs2150413656
|
|
NM_001206927.2(DNAH8):c.6537C>A (p.Asn2179Lys)
|
|
|
NM_001206927.2(DNAH8):c.6548A>G (p.Gln2183Arg)
|
|
|
NM_001206927.2(DNAH8):c.654G>A (p.Met218Ile)
|
|
|
NM_001206927.2(DNAH8):c.6601A>C (p.Lys2201Gln)
|
rs2150418898
|
|
NM_001206927.2(DNAH8):c.6655G>A (p.Val2219Ile)
|
|
|
NM_001206927.2(DNAH8):c.665A>G (p.Tyr222Cys)
|
rs753974456
|
|
NM_001206927.2(DNAH8):c.668T>C (p.Ile223Thr)
|
rs1554195443
|
|
NM_001206927.2(DNAH8):c.6695T>G (p.Val2232Gly)
|
|
|
NM_001206927.2(DNAH8):c.669A>G (p.Ile223Met)
|
rs1249365541
|
|
NM_001206927.2(DNAH8):c.670G>A (p.Asp224Asn)
|
|
|
NM_001206927.2(DNAH8):c.671A>G (p.Asp224Gly)
|
|
|
NM_001206927.2(DNAH8):c.6721A>G (p.Ile2241Val)
|
rs1563049849
|
|
NM_001206927.2(DNAH8):c.6772G>A (p.Asp2258Asn)
|
|
|
NM_001206927.2(DNAH8):c.682C>T (p.Pro228Ser)
|
|
|
NM_001206927.2(DNAH8):c.6833A>G (p.Asp2278Gly)
|
|
|
NM_001206927.2(DNAH8):c.6887A>G (p.Gln2296Arg)
|
rs1777382079
|
|
NM_001206927.2(DNAH8):c.68C>A (p.Ala23Asp)
|
rs1471622411
|
|
NM_001206927.2(DNAH8):c.6950G>A (p.Gly2317Asp)
|
rs1307310167
|
|
NM_001206927.2(DNAH8):c.6968C>T (p.Pro2323Leu)
|
|
|
NM_001206927.2(DNAH8):c.6985G>T (p.Val2329Leu)
|
rs143397128
|
|
NM_001206927.2(DNAH8):c.6994T>C (p.Tyr2332His)
|
|
|
NM_001206927.2(DNAH8):c.6G>C (p.Glu2Asp)
|
rs774924483
|
|
NM_001206927.2(DNAH8):c.7012C>T (p.Arg2338Trp)
|
|
|
NM_001206927.2(DNAH8):c.7096G>A (p.Gly2366Arg)
|
|
|
NM_001206927.2(DNAH8):c.7096G>C (p.Gly2366Arg)
|
|
|
NM_001206927.2(DNAH8):c.7165G>A (p.Asp2389Asn)
|
|
|
NM_001206927.2(DNAH8):c.7177A>C (p.Asn2393His)
|
rs377740147
|
|
NM_001206927.2(DNAH8):c.7255A>C (p.Ile2419Leu)
|
|
|
NM_001206927.2(DNAH8):c.7416G>A (p.Thr2472=)
|
rs773155985
|
|
NM_001206927.2(DNAH8):c.7532A>T (p.Tyr2511Phe)
|
|
|
NM_001206927.2(DNAH8):c.7536G>C (p.Glu2512Asp)
|
rs368018225
|
|
NM_001206927.2(DNAH8):c.7576C>A (p.Leu2526Ile)
|
rs1253294161
|
|
NM_001206927.2(DNAH8):c.7615G>A (p.Val2539Met)
|
|
|
NM_001206927.2(DNAH8):c.7624C>G (p.Leu2542Val)
|
|
|
NM_001206927.2(DNAH8):c.7664G>A (p.Gly2555Asp)
|
rs1457561714
|
|
NM_001206927.2(DNAH8):c.7670T>A (p.Val2557Asp)
|
|
|
NM_001206927.2(DNAH8):c.7678G>A (p.Val2560Ile)
|
rs1777940777
|
|
NM_001206927.2(DNAH8):c.775A>C (p.Thr259Pro)
|
rs2127581124
|
|
NM_001206927.2(DNAH8):c.7791G>C (p.Lys2597Asn)
|
rs1554124713
|
|
NM_001206927.2(DNAH8):c.7817G>T (p.Gly2606Val)
|
rs533990732
|
|
NM_001206927.2(DNAH8):c.7832T>A (p.Met2611Lys)
|
rs2150445794
|
|
NM_001206927.2(DNAH8):c.788C>T (p.Ala263Val)
|
|
|
NM_001206927.2(DNAH8):c.7894TAT[2] (p.Tyr2634del)
|
rs1583267887
|
|
NM_001206927.2(DNAH8):c.7906A>G (p.Thr2636Ala)
|
|
|
NM_001206927.2(DNAH8):c.7917T>G (p.Ile2639Met)
|
rs1778621245
|
|
NM_001206927.2(DNAH8):c.7919C>T (p.Pro2640Leu)
|
|
|
NM_001206927.2(DNAH8):c.791C>T (p.Ser264Leu)
|
|
|
NM_001206927.2(DNAH8):c.7961G>C (p.Arg2654Thr)
|
rs1778625788
|
|
NM_001206927.2(DNAH8):c.797G>C (p.Gly266Ala)
|
|
|
NM_001206927.2(DNAH8):c.7996C>T (p.His2666Tyr)
|
|
|
NM_001206927.2(DNAH8):c.799C>G (p.Leu267Val)
|
rs1764158324
|
|
NM_001206927.2(DNAH8):c.8130_8132del (p.Met2710_Phe2711delinsIle)
|
|
|
NM_001206927.2(DNAH8):c.8156T>C (p.Val2719Ala)
|
rs1778706363
|
|
NM_001206927.2(DNAH8):c.8175C>A (p.Ser2725Arg)
|
rs1488192188
|
|
NM_001206927.2(DNAH8):c.8177C>T (p.Thr2726Ile)
|
|
|
NM_001206927.2(DNAH8):c.8303T>C (p.Met2768Thr)
|
|
|
NM_001206927.2(DNAH8):c.8320C>T (p.Pro2774Ser)
|
|
|
NM_001206927.2(DNAH8):c.8353C>T (p.Leu2785Phe)
|
|
|
NM_001206927.2(DNAH8):c.8387G>T (p.Arg2796Leu)
|
rs576946348
|
|
NM_001206927.2(DNAH8):c.8390A>G (p.Asn2797Ser)
|
|
|
NM_001206927.2(DNAH8):c.8467A>C (p.Ile2823Leu)
|
rs1778977301
|
|
NM_001206927.2(DNAH8):c.8500C>T (p.Pro2834Ser)
|
rs760626246
|
|
NM_001206927.2(DNAH8):c.8621T>A (p.Ile2874Asn)
|
rs1554129791
|
|
NM_001206927.2(DNAH8):c.8638C>T (p.Leu2880Phe)
|
|
|
NM_001206927.2(DNAH8):c.8686G>A (p.Ala2896Thr)
|
|
|
NM_001206927.2(DNAH8):c.872C>A (p.Ala291Asp)
|
rs371250738
|
|
NM_001206927.2(DNAH8):c.872C>T (p.Ala291Val)
|
rs371250738
|
|
NM_001206927.2(DNAH8):c.881A>C (p.Gln294Pro)
|
rs1764167267
|
|
NM_001206927.2(DNAH8):c.8851T>C (p.Tyr2951His)
|
|
|
NM_001206927.2(DNAH8):c.8901T>A (p.Pro2967=)
|
rs750519404
|
|
NM_001206927.2(DNAH8):c.890A>T (p.Gln297Leu)
|
|
|
NM_001206927.2(DNAH8):c.8942T>C (p.Met2981Thr)
|
|
|
NM_001206927.2(DNAH8):c.8958T>A (p.Phe2986Leu)
|
|
|
NM_001206927.2(DNAH8):c.895G>C (p.Glu299Gln)
|
rs1307039134
|
|
NM_001206927.2(DNAH8):c.9007A>G (p.Arg3003Gly)
|
rs1554130647
|
|
NM_001206927.2(DNAH8):c.9175T>C (p.Phe3059Leu)
|
|
|
NM_001206927.2(DNAH8):c.9182T>C (p.Ile3061Thr)
|
|
|
NM_001206927.2(DNAH8):c.9194+4G>C
|
rs1397795512
|
|
NM_001206927.2(DNAH8):c.9195G>T (p.Arg3065Ser)
|
|
|
NM_001206927.2(DNAH8):c.9211A>G (p.Asn3071Asp)
|
|
|
NM_001206927.2(DNAH8):c.9212A>G (p.Asn3071Ser)
|
rs1561844607
|
|
NM_001206927.2(DNAH8):c.9221A>G (p.Asp3074Gly)
|
|
|
NM_001206927.2(DNAH8):c.9266G>C (p.Gly3089Ala)
|
rs1561844745
|
|
NM_001206927.2(DNAH8):c.9301G>T (p.Asp3101Tyr)
|
rs2150520538
|
|
NM_001206927.2(DNAH8):c.9333G>C (p.Leu3111Phe)
|
|
|
NM_001206927.2(DNAH8):c.938T>G (p.Leu313Arg)
|
rs1764173249
|
|
NM_001206927.2(DNAH8):c.9392A>G (p.Gln3131Arg)
|
|
|
NM_001206927.2(DNAH8):c.9455A>G (p.Tyr3152Cys)
|
|
|
NM_001206927.2(DNAH8):c.9529C>T (p.Arg3177Cys)
|
|
|
NM_001206927.2(DNAH8):c.9536G>A (p.Arg3179His)
|
|
|
NM_001206927.2(DNAH8):c.9589C>T (p.Arg3197Cys)
|
|
|
NM_001206927.2(DNAH8):c.9619G>A (p.Ala3207Thr)
|
|
|
NM_001206927.2(DNAH8):c.9671G>T (p.Arg3224Ile)
|
rs775998449
|
|
NM_001206927.2(DNAH8):c.9719G>A (p.Ser3240Asn)
|
rs1583326923
|
|
NM_001206927.2(DNAH8):c.9740+4_9740+10del
|
rs773097842
|
|
NM_001206927.2(DNAH8):c.9820G>C (p.Val3274Leu)
|
|
|
NM_001206927.2(DNAH8):c.983A>G (p.Lys328Arg)
|
rs1582867594
|
|
NM_001206927.2(DNAH8):c.9860-9T>A
|
rs1781091922
|
|
NM_001244189.2(KIAA0586):c.9+4A>C
|
rs1029046238
|
|
NM_001244189.2(KIAA0586):c.9+5G>C
|
|
|
NM_001256715.2(DNAAF3):c.-24G>A
|
|
|
NM_001256715.2(DNAAF3):c.-2T>C
|
|
|
NM_001256715.2(DNAAF3):c.-67C>T
|
rs2085943148
|
|
NM_001256715.2(DNAAF3):c.-69C>G
|
rs772986651
|
|
NM_001256715.2(DNAAF3):c.-7A>G
|
rs2147311994
|
|
NM_001256715.2(DNAAF3):c.1031C>G (p.Pro344Arg)
|
|
|
NM_001256715.2(DNAAF3):c.1036C>T (p.Pro346Ser)
|
|
|
NM_001256715.2(DNAAF3):c.1041_1048+1del
|
rs767677564
|
|
NM_001256715.2(DNAAF3):c.1055C>T (p.Pro352Leu)
|
|
|
NM_001256715.2(DNAAF3):c.1111C>T (p.His371Tyr)
|
rs2085791092
|
|
NM_001256715.2(DNAAF3):c.1223T>C (p.Ile408Thr)
|
|
|
NM_001256715.2(DNAAF3):c.1238G>A (p.Arg413Gln)
|
|
|
NM_001256715.2(DNAAF3):c.1239-20A>G
|
|
|
NM_001256715.2(DNAAF3):c.126C>A (p.His42Gln)
|
|
|
NM_001256715.2(DNAAF3):c.1294G>A (p.Glu432Lys)
|
|
|
NM_001256715.2(DNAAF3):c.134C>G (p.Pro45Arg)
|
|
|
NM_001256715.2(DNAAF3):c.1354G>A (p.Ala452Thr)
|
|
|
NM_001256715.2(DNAAF3):c.1357C>T (p.Arg453Cys)
|
rs745788397
|
|
NM_001256715.2(DNAAF3):c.1376A>C (p.Glu459Ala)
|
rs1234177840
|
|
NM_001256715.2(DNAAF3):c.1377A>C (p.Glu459Asp)
|
|
|
NM_001256715.2(DNAAF3):c.1391A>C (p.Asn464Thr)
|
rs2085774021
|
|
NM_001256715.2(DNAAF3):c.1408G>C (p.Glu470Gln)
|
|
|
NM_001256715.2(DNAAF3):c.1410del (p.Glu470fs)
|
rs878854280
|
|
NM_001256715.2(DNAAF3):c.1415G>A (p.Gly472Glu)
|
rs2147290092
|
|
NM_001256715.2(DNAAF3):c.1421C>T (p.Pro474Leu)
|
|
|
NM_001256715.2(DNAAF3):c.1424C>G (p.Pro475Arg)
|
rs1568861889
|
|
NM_001256715.2(DNAAF3):c.1429G>C (p.Asp477His)
|
|
|
NM_001256715.2(DNAAF3):c.1443G>C (p.Gln481His)
|
rs751901961
|
|
NM_001256715.2(DNAAF3):c.1453G>A (p.Ala485Thr)
|
|
|
NM_001256715.2(DNAAF3):c.1471_1472delinsAG (p.Glu491Arg)
|
rs1599916117
|
|
NM_001256715.2(DNAAF3):c.1475dup (p.Leu493fs)
|
rs1258490043
|
|
NM_001256715.2(DNAAF3):c.1485G>C (p.Gln495His)
|
|
|
NM_001256715.2(DNAAF3):c.1487C>T (p.Pro496Leu)
|
rs757426979
|
|
NM_001256715.2(DNAAF3):c.1495G>A (p.Gly499Ser)
|
rs751749516
|
|
NM_001256715.2(DNAAF3):c.1507C>T (p.His503Tyr)
|
|
|
NM_001256715.2(DNAAF3):c.1580C>A (p.Ala527Asp)
|
|
|
NM_001256715.2(DNAAF3):c.172C>G (p.Arg58Gly)
|
rs1205985038
|
|
NM_001256715.2(DNAAF3):c.212C>G (p.Pro71Arg)
|
rs755945019
|
|
NM_001256715.2(DNAAF3):c.228+17A>G
|
|
|
NM_001256715.2(DNAAF3):c.245A>C (p.Asn82Thr)
|
|
|
NM_001256715.2(DNAAF3):c.250C>G (p.Leu84Val)
|
|
|
NM_001256715.2(DNAAF3):c.262G>A (p.Ala88Thr)
|
rs1568868472
|
|
NM_001256715.2(DNAAF3):c.28G>A (p.Gly10Ser)
|
|
|
NM_001256715.2(DNAAF3):c.301C>T (p.Pro101Ser)
|
|
|
NM_001256715.2(DNAAF3):c.357C>G (p.Asn119Lys)
|
|
|
NM_001256715.2(DNAAF3):c.359C>T (p.Ala120Val)
|
|
|
NM_001256715.2(DNAAF3):c.368G>A (p.Arg123His)
|
|
|
NM_001256715.2(DNAAF3):c.377T>G (p.Val126Gly)
|
|
|
NM_001256715.2(DNAAF3):c.380C>G (p.Ala127Gly)
|
rs1422887369
|
|
NM_001256715.2(DNAAF3):c.382G>A (p.Ala128Thr)
|
rs1599923566
|
|
NM_001256715.2(DNAAF3):c.40G>C (p.Val14Leu)
|
|
|
NM_001256715.2(DNAAF3):c.473C>T (p.Ala158Val)
|
|
|
NM_001256715.2(DNAAF3):c.480+5C>T
|
rs757597159
|
|
NM_001256715.2(DNAAF3):c.481-3C>G
|
rs1599922783
|
|
NM_001256715.2(DNAAF3):c.485G>T (p.Arg162Leu)
|
rs1060502832
|
|
NM_001256715.2(DNAAF3):c.490C>T (p.Arg164Trp)
|
|
|
NM_001256715.2(DNAAF3):c.491G>T (p.Arg164Leu)
|
rs771839338
|
|
NM_001256715.2(DNAAF3):c.553C>T (p.Pro185Ser)
|
|
|
NM_001256715.2(DNAAF3):c.587delinsTGGG (p.His196delinsLeuGly)
|
rs2085838084
|
|
NM_001256715.2(DNAAF3):c.619G>A (p.Gly207Ser)
|
|
|
NM_001256715.2(DNAAF3):c.650T>A (p.Leu217Gln)
|
rs2147297566
|
|
NM_001256715.2(DNAAF3):c.659_660delinsTT (p.Arg220Leu)
|
rs2085835582
|
|
NM_001256715.2(DNAAF3):c.664-2_681dup
|
|
|
NM_001256715.2(DNAAF3):c.665C>A (p.Ala222Asp)
|
|
|
NM_001256715.2(DNAAF3):c.665C>T (p.Ala222Val)
|
rs866731630
|
|
NM_001256715.2(DNAAF3):c.704A>C (p.Asp235Ala)
|
|
|
NM_001256715.2(DNAAF3):c.712G>A (p.Val238Ile)
|
rs1380206004
|
|
NM_001256715.2(DNAAF3):c.730G>T (p.Asp244Tyr)
|
rs1461569802
|
|
NM_001256715.2(DNAAF3):c.739G>A (p.Ala247Thr)
|
rs2085827314
|
|
NM_001256715.2(DNAAF3):c.767C>G (p.Ala256Gly)
|
rs201937522
|
|
NM_001256715.2(DNAAF3):c.773G>C (p.Gly258Ala)
|
|
|
NM_001256715.2(DNAAF3):c.775C>T (p.Arg259Cys)
|
rs765974072
|
|
NM_001256715.2(DNAAF3):c.789+5G>A
|
|
|
NM_001256715.2(DNAAF3):c.789+5G>C
|
rs376485677
|
|
NM_001256715.2(DNAAF3):c.789C>T (p.Tyr263=)
|
|
|
NM_001256715.2(DNAAF3):c.800G>C (p.Arg267Pro)
|
|
|
NM_001256715.2(DNAAF3):c.826G>A (p.Asp276Asn)
|
rs1353927924
|
|
NM_001256715.2(DNAAF3):c.826G>C (p.Asp276His)
|
rs1353927924
|
|
NM_001256715.2(DNAAF3):c.85+3G>C
|
|
|
NM_001256715.2(DNAAF3):c.86-1G>T
|
|
|
NM_001256715.2(DNAAF3):c.86-28G>A
|
rs2085932710
|
|
NM_001256715.2(DNAAF3):c.86-49G>A
|
|
|
NM_001256715.2(DNAAF3):c.86-57C>A
|
|
|
NM_001256715.2(DNAAF3):c.862G>A (p.Glu288Lys)
|
|
|
NM_001256715.2(DNAAF3):c.871G>A (p.Asp291Asn)
|
|
|
NM_001256715.2(DNAAF3):c.912+4C>A
|
rs2085819392
|
|
NM_001256715.2(DNAAF3):c.912+5G>A
|
|
|
NM_001256715.2(DNAAF3):c.914C>A (p.Thr305Lys)
|
|
|
NM_001256715.2(DNAAF3):c.915G>A (p.Thr305=)
|
rs886054640
|
|
NM_001256715.2(DNAAF3):c.94G>T (p.Val32Leu)
|
|
|
NM_001256715.2(DNAAF3):c.960C>G (p.Asp320Glu)
|
rs200938793
|
|
NM_001256715.2(DNAAF3):c.988A>G (p.Thr330Ala)
|
|
|
NM_001277115.2(DNAH11):c.10019A>C (p.Lys3340Thr)
|
|
|
NM_001277115.2(DNAH11):c.10051C>G (p.Leu3351Val)
|
rs376710623
|
|
NM_001277115.2(DNAH11):c.10075A>G (p.Thr3359Ala)
|
rs754609932
|
|
NM_001277115.2(DNAH11):c.10103A>T (p.Glu3368Val)
|
|
|
NM_001277115.2(DNAH11):c.10154A>T (p.Glu3385Val)
|
|
|
NM_001277115.2(DNAH11):c.10165+1_10165+3dup
|
|
|
NM_001277115.2(DNAH11):c.10165+6A>T
|
|
|
NM_001277115.2(DNAH11):c.10186T>C (p.Ser3396Pro)
|
rs1583718488
|
|
NM_001277115.2(DNAH11):c.10189A>C (p.Ile3397Leu)
|
|
|
NM_001277115.2(DNAH11):c.10276A>G (p.Arg3426Gly)
|
rs1562558499
|
|
NM_001277115.2(DNAH11):c.10301A>C (p.His3434Pro)
|
rs754773184
|
|
NM_001277115.2(DNAH11):c.10307A>G (p.Lys3436Arg)
|
|
|
NM_001277115.2(DNAH11):c.10318T>G (p.Phe3440Val)
|
|
|
NM_001277115.2(DNAH11):c.1032A>T (p.Arg344Ser)
|
rs1322188587
|
|
NM_001277115.2(DNAH11):c.10332G>A (p.Lys3444=)
|
|
|
NM_001277115.2(DNAH11):c.10381G>A (p.Asp3461Asn)
|
rs1789799061
|
|
NM_001277115.2(DNAH11):c.10478C>T (p.Pro3493Leu)
|
rs1789804608
|
|
NM_001277115.2(DNAH11):c.10480C>G (p.Leu3494Val)
|
rs1789804697
|
|
NM_001277115.2(DNAH11):c.10562A>G (p.Gln3521Arg)
|
rs2128000172
|
|
NM_001277115.2(DNAH11):c.10568G>T (p.Gly3523Val)
|
rs1223461836
|
|
NM_001277115.2(DNAH11):c.106GAG[6] (p.Glu40_Asn41insGlu)
|
|
|
NM_001277115.2(DNAH11):c.10761G>T (p.Leu3587Phe)
|
rs1467510424
|
|
NM_001277115.2(DNAH11):c.10762G>T (p.Ala3588Ser)
|
|
|
NM_001277115.2(DNAH11):c.10767T>A (p.Asn3589Lys)
|
|
|
NM_001277115.2(DNAH11):c.10775A>G (p.Tyr3592Cys)
|
rs1060503062
|
|
NM_001277115.2(DNAH11):c.10781C>A (p.Pro3594Gln)
|
|
|
NM_001277115.2(DNAH11):c.10793C>G (p.Ala3598Gly)
|
rs911976426
|
|
NM_001277115.2(DNAH11):c.10801A>G (p.Thr3601Ala)
|
rs1418505953
|
|
NM_001277115.2(DNAH11):c.10912C>T (p.His3638Tyr)
|
rs776111425
|
|
NM_001277115.2(DNAH11):c.10920T>G (p.Asn3640Lys)
|
rs1583773726
|
|
NM_001277115.2(DNAH11):c.10939A>C (p.Lys3647Gln)
|
|
|
NM_001277115.2(DNAH11):c.10948G>A (p.Glu3650Lys)
|
rs1382616171
|
|
NM_001277115.2(DNAH11):c.10951G>T (p.Asp3651Tyr)
|
|
|
NM_001277115.2(DNAH11):c.11061+4G>A
|
|
|
NM_001277115.2(DNAH11):c.11065A>G (p.Ile3689Val)
|
rs1554288889
|
|
NM_001277115.2(DNAH11):c.11113T>C (p.Tyr3705His)
|
rs1562585554
|
|
NM_001277115.2(DNAH11):c.11117G>A (p.Arg3706Lys)
|
rs1562585559
|
|
NM_001277115.2(DNAH11):c.11164C>T (p.Leu3722Phe)
|
rs2128025450
|
|
NM_001277115.2(DNAH11):c.11186A>T (p.Tyr3729Phe)
|
rs727502970
|
|
NM_001277115.2(DNAH11):c.11202+11A>G
|
rs1056235959
|
|
NM_001277115.2(DNAH11):c.11221C>T (p.His3741Tyr)
|
rs1783075514
|
|
NM_001277115.2(DNAH11):c.11272T>G (p.Ser3758Ala)
|
|
|
NM_001277115.2(DNAH11):c.1131T>G (p.Phe377Leu)
|
|
|
NM_001277115.2(DNAH11):c.1142C>A (p.Pro381Gln)
|
|
|
NM_001277115.2(DNAH11):c.11443A>G (p.Thr3815Ala)
|
rs1583787940
|
|
NM_001277115.2(DNAH11):c.11489C>T (p.Ala3830Val)
|
rs1384924530
|
|
NM_001277115.2(DNAH11):c.11522G>A (p.Arg3841Gln)
|
rs1783284710
|
|
NM_001277115.2(DNAH11):c.11663G>A (p.Arg3888His)
|
|
|
NM_001277115.2(DNAH11):c.11690+6G>A
|
|
|
NM_001277115.2(DNAH11):c.11693A>G (p.Asn3898Ser)
|
|
|
NM_001277115.2(DNAH11):c.116_133dup (p.Glu44_Ala45insGluGluAsnGluGluGlu)
|
|
|
NM_001277115.2(DNAH11):c.11725G>T (p.Val3909Leu)
|
rs886062185
|
|
NM_001277115.2(DNAH11):c.11735C>G (p.Thr3912Ser)
|
|
|
NM_001277115.2(DNAH11):c.11790C>A (p.Phe3930Leu)
|
|
|
NM_001277115.2(DNAH11):c.11840-3C>T
|
|
|
NM_001277115.2(DNAH11):c.11847A>C (p.Arg3949Ser)
|
rs2128035660
|
|
NM_001277115.2(DNAH11):c.11874A>G (p.Lys3958=)
|
|
|
NM_001277115.2(DNAH11):c.11879A>C (p.His3960Pro)
|
|
|
NM_001277115.2(DNAH11):c.11908A>T (p.Thr3970Ser)
|
rs974613459
|
|
NM_001277115.2(DNAH11):c.1194+6_1194+8del
|
rs752748339
|
|
NM_001277115.2(DNAH11):c.1194G>A (p.Gln398=)
|
|
|
NM_001277115.2(DNAH11):c.11951A>C (p.His3984Pro)
|
rs1783392419
|
|
NM_001277115.2(DNAH11):c.1195G>T (p.Ala399Ser)
|
|
|
NM_001277115.2(DNAH11):c.11965C>G (p.Gln3989Glu)
|
|
|
NM_001277115.2(DNAH11):c.11999C>T (p.Thr4000Ile)
|
rs1783570244
|
|
NM_001277115.2(DNAH11):c.12168G>C (p.Leu4056Phe)
|
rs1783577185
|
|
NM_001277115.2(DNAH11):c.121_129dup (p.Asn41_Glu43dup)
|
rs1583467731
|
|
NM_001277115.2(DNAH11):c.12262C>T (p.His4088Tyr)
|
rs1229709690
|
|
NM_001277115.2(DNAH11):c.12293G>A (p.Gly4098Asp)
|
rs1583806980
|
|
NM_001277115.2(DNAH11):c.12296C>T (p.Pro4099Leu)
|
|
|
NM_001277115.2(DNAH11):c.12352A>G (p.Ser4118Gly)
|
rs1783899391
|
|
NM_001277115.2(DNAH11):c.12387+4A>C
|
|
|
NM_001277115.2(DNAH11):c.12456G>T (p.Trp4152Cys)
|
|
|
NM_001277115.2(DNAH11):c.12472C>T (p.Arg4158Trp)
|
|
|
NM_001277115.2(DNAH11):c.12475G>C (p.Val4159Leu)
|
|
|
NM_001277115.2(DNAH11):c.12475G>T (p.Val4159Leu)
|
rs771944678
|
|
NM_001277115.2(DNAH11):c.12499C>G (p.Pro4167Ala)
|
|
|
NM_001277115.2(DNAH11):c.12507G>C (p.Leu4169=)
|
rs113963998
|
|
NM_001277115.2(DNAH11):c.125AGG[2] (p.Glu44del)
|
rs1782659889
|
|
NM_001277115.2(DNAH11):c.12619T>C (p.Tyr4207His)
|
rs1562607173
|
|
NM_001277115.2(DNAH11):c.12788C>T (p.Pro4263Leu)
|
rs1583820467
|
|
NM_001277115.2(DNAH11):c.12791A>G (p.Glu4264Gly)
|
rs1784443582
|
|
NM_001277115.2(DNAH11):c.127G>A (p.Glu43Lys)
|
|
|
NM_001277115.2(DNAH11):c.127G>C (p.Glu43Gln)
|
rs1583467748
|
|
NM_001277115.2(DNAH11):c.12813A>G (p.Ile4271Met)
|
rs1422905532
|
|
NM_001277115.2(DNAH11):c.12817C>G (p.Gln4273Glu)
|
|
|
NM_001277115.2(DNAH11):c.12836G>T (p.Ser4279Ile)
|
rs1784445668
|
|
NM_001277115.2(DNAH11):c.12934-2del
|
rs1784452809
|
|
NM_001277115.2(DNAH11):c.1296C>A (p.Asn432Lys)
|
rs1783828997
|
|
NM_001277115.2(DNAH11):c.12986A>T (p.Tyr4329Phe)
|
rs1562608827
|
|
NM_001277115.2(DNAH11):c.1298C>T (p.Ser433Phe)
|
|
|
NM_001277115.2(DNAH11):c.12997C>T (p.Pro4333Ser)
|
rs753970328
|
|
NM_001277115.2(DNAH11):c.13112C>A (p.Pro4371Gln)
|
rs1238638659
|
|
NM_001277115.2(DNAH11):c.1312A>G (p.Arg438Gly)
|
|
|
NM_001277115.2(DNAH11):c.13163C>T (p.Ala4388Val)
|
rs1060503058
|
|
NM_001277115.2(DNAH11):c.13179G>A (p.Met4393Ile)
|
rs777813597
|
|
NM_001277115.2(DNAH11):c.13186A>C (p.Lys4396Gln)
|
rs569092902
|
|
NM_001277115.2(DNAH11):c.13199C>T (p.Pro4400Leu)
|
rs2128052334
|
|
NM_001277115.2(DNAH11):c.13211C>A (p.Thr4404Lys)
|
|
|
NM_001277115.2(DNAH11):c.13247A>T (p.Glu4416Val)
|
rs2128052383
|
|
NM_001277115.2(DNAH11):c.13261C>A (p.Pro4421Thr)
|
|
|
NM_001277115.2(DNAH11):c.13263_13265del (p.Pro4422del)
|
rs1784704513
|
|
NM_001277115.2(DNAH11):c.13278A>G (p.Ala4426=)
|
rs773266815
|
|
NM_001277115.2(DNAH11):c.13303+3_13303+6dup
|
|
|
NM_001277115.2(DNAH11):c.13303G>T (p.Gly4435Cys)
|
rs1044815255
|
|
NM_001277115.2(DNAH11):c.13316A>G (p.Asp4439Gly)
|
|
|
NM_001277115.2(DNAH11):c.13319C>T (p.Thr4440Ile)
|
|
|
NM_001277115.2(DNAH11):c.13325C>G (p.Ala4442Gly)
|
|
|
NM_001277115.2(DNAH11):c.13328G>A (p.Gly4443Glu)
|
rs1375156859
|
|
NM_001277115.2(DNAH11):c.13331C>G (p.Thr4444Ser)
|
|
|
NM_001277115.2(DNAH11):c.13345C>T (p.Arg4449Cys)
|
rs751222708
|
|
NM_001277115.2(DNAH11):c.13396C>T (p.Pro4466Ser)
|
rs1784797805
|
|
NM_001277115.2(DNAH11):c.13420C>G (p.Gln4474Glu)
|
|
|
NM_001277115.2(DNAH11):c.13424_13456del (p.Thr4475_Leu4485del)
|
rs1554294443
|
|
NM_001277115.2(DNAH11):c.13429_13449dup (p.Thr4483_Lys4484insGluCysProValTyrArgThr)
|
|
|
NM_001277115.2(DNAH11):c.13444A>G (p.Arg4482Gly)
|
rs1784802858
|
|
NM_001277115.2(DNAH11):c.13457G>A (p.Arg4486Lys)
|
|
|
NM_001277115.2(DNAH11):c.13472_*75dup (p.Ile4491_Ter4517=)
|
rs1784806477
|
|
NM_001277115.2(DNAH11):c.13473C>G (p.Ile4491Met)
|
rs1784806581
|
|
NM_001277115.2(DNAH11):c.13473_*75dup (p.Tyr4490_Ter4517=)
|
rs878854439
|
|
NM_001277115.2(DNAH11):c.13475_13504dup (p.Lys4501_Thr4502insArgThrPheArgLeuLysSerGluGluLys)
|
|
|
NM_001277115.2(DNAH11):c.13482C>G (p.Phe4494Leu)
|
rs370038827
|
|
NM_001277115.2(DNAH11):c.13515_13526dup (p.Leu4507_Val4510dup)
|
rs1254126467
|
|
NM_001277115.2(DNAH11):c.13527_13547dup (p.Val4510_Ala4516dup)
|
rs1784815114
|
|
NM_001277115.2(DNAH11):c.13531G>A (p.Ala4511Thr)
|
rs1562614917
|
|
NM_001277115.2(DNAH11):c.1357T>C (p.Trp453Arg)
|
rs1783831153
|
|
NM_001277115.2(DNAH11):c.136G>C (p.Ala46Pro)
|
rs918116615
|
|
NM_001277115.2(DNAH11):c.1375C>G (p.Leu459Val)
|
|
|
NM_001277115.2(DNAH11):c.1414A>G (p.Ile472Val)
|
|
|
NM_001277115.2(DNAH11):c.1425G>A (p.Glu475=)
|
rs2128436389
|
|
NM_001277115.2(DNAH11):c.1427A>G (p.Asp476Gly)
|
|
|
NM_001277115.2(DNAH11):c.1438A>C (p.Thr480Pro)
|
|
|
NM_001277115.2(DNAH11):c.1442C>T (p.Thr481Ile)
|
rs1583491099
|
|
NM_001277115.2(DNAH11):c.1534A>C (p.Met512Leu)
|
rs1783906157
|
|
NM_001277115.2(DNAH11):c.1609T>G (p.Tyr537Asp)
|
rs1784321972
|
|
NM_001277115.2(DNAH11):c.1610A>C (p.Tyr537Ser)
|
|
|
NM_001277115.2(DNAH11):c.1708A>G (p.Lys570Glu)
|
rs2128440942
|
|
NM_001277115.2(DNAH11):c.1771C>A (p.His591Asn)
|
rs1583505393
|
|
NM_001277115.2(DNAH11):c.1790A>C (p.His597Pro)
|
|
|
NM_001277115.2(DNAH11):c.1790A>T (p.His597Leu)
|
|
|
NM_001277115.2(DNAH11):c.1822C>G (p.Gln608Glu)
|
|
|
NM_001277115.2(DNAH11):c.1888T>C (p.Phe630Leu)
|
rs1583505808
|
|
NM_001277115.2(DNAH11):c.1916A>T (p.Gln639Leu)
|
|
|
NM_001277115.2(DNAH11):c.2033T>G (p.Leu678Trp)
|
rs1784591318
|
|
NM_001277115.2(DNAH11):c.2060A>T (p.Tyr687Phe)
|
|
|
NM_001277115.2(DNAH11):c.2075G>T (p.Ser692Ile)
|
rs528619219
|
|
NM_001277115.2(DNAH11):c.2113C>A (p.Pro705Thr)
|
rs1784594376
|
|
NM_001277115.2(DNAH11):c.2118G>C (p.Leu706Phe)
|
|
|
NM_001277115.2(DNAH11):c.2143C>T (p.Leu715Phe)
|
rs2128443046
|
|
NM_001277115.2(DNAH11):c.2169+6G>T
|
rs761214072
|
|
NM_001277115.2(DNAH11):c.2278A>T (p.Ile760Phe)
|
rs768205792
|
|
NM_001277115.2(DNAH11):c.227A>G (p.Lys76Arg)
|
|
|
NM_001277115.2(DNAH11):c.2314A>C (p.Lys772Gln)
|
rs2128443616
|
|
NM_001277115.2(DNAH11):c.2315A>C (p.Lys772Thr)
|
rs1489275422
|
|
NM_001277115.2(DNAH11):c.2338G>A (p.Val780Ile)
|
|
|
NM_001277115.2(DNAH11):c.234C>G (p.Ser78Arg)
|
rs1487726993
|
|
NM_001277115.2(DNAH11):c.239A>G (p.Tyr80Cys)
|
rs2128424856
|
|
NM_001277115.2(DNAH11):c.2452G>C (p.Ala818Pro)
|
rs1554316504
|
|
NM_001277115.2(DNAH11):c.2471A>T (p.Glu824Val)
|
|
|
NM_001277115.2(DNAH11):c.2486G>C (p.Arg829Pro)
|
rs201261243
|
|
NM_001277115.2(DNAH11):c.2516A>T (p.Gln839Leu)
|
rs2128443723
|
|
NM_001277115.2(DNAH11):c.2542G>T (p.Val848Leu)
|
|
|
NM_001277115.2(DNAH11):c.2598G>C (p.Lys866Asn)
|
rs1784687735
|
|
NM_001277115.2(DNAH11):c.2629A>G (p.Ile877Val)
|
rs2128443771
|
|
NM_001277115.2(DNAH11):c.2662G>C (p.Val888Leu)
|
rs1295846959
|
|
NM_001277115.2(DNAH11):c.2792T>A (p.Leu931Gln)
|
|
|
NM_001277115.2(DNAH11):c.283G>C (p.Glu95Gln)
|
|
|
NM_001277115.2(DNAH11):c.2907C>A (p.Phe969Leu)
|
|
|
NM_001277115.2(DNAH11):c.2918T>C (p.Val973Ala)
|
rs1785015935
|
|
NM_001277115.2(DNAH11):c.2984A>C (p.Glu995Ala)
|
rs2128446711
|
|
NM_001277115.2(DNAH11):c.3000+4T>C
|
rs1785020067
|
|
NM_001277115.2(DNAH11):c.3095A>G (p.Asn1032Ser)
|
rs1583517157
|
|
NM_001277115.2(DNAH11):c.3143T>C (p.Phe1048Ser)
|
rs978150323
|
|
NM_001277115.2(DNAH11):c.3196G>A (p.Ala1066Thr)
|
|
|
NM_001277115.2(DNAH11):c.319G>A (p.Ala107Thr)
|
rs1161522667
|
|
NM_001277115.2(DNAH11):c.3325T>C (p.Phe1109Leu)
|
rs2128447080
|
|
NM_001277115.2(DNAH11):c.3330G>T (p.Lys1110Asn)
|
rs1285979781
|
|
NM_001277115.2(DNAH11):c.3365C>T (p.Thr1122Ile)
|
rs878854442
|
|
NM_001277115.2(DNAH11):c.3388A>G (p.Met1130Val)
|
rs2128447106
|
|
NM_001277115.2(DNAH11):c.3458C>T (p.Thr1153Ile)
|
|
|
NM_001277115.2(DNAH11):c.3495_3496delinsAT (p.Asp1165_His1166delinsGluTyr)
|
rs2128447235
|
|
NM_001277115.2(DNAH11):c.351+6A>T
|
rs1782674510
|
|
NM_001277115.2(DNAH11):c.3530T>C (p.Leu1177Pro)
|
|
|
NM_001277115.2(DNAH11):c.3532G>A (p.Ala1178Thr)
|
rs1248235821
|
|
NM_001277115.2(DNAH11):c.3623C>G (p.Pro1208Arg)
|
rs1060503057
|
|
NM_001277115.2(DNAH11):c.3647A>C (p.Glu1216Ala)
|
rs1016978531
|
|
NM_001277115.2(DNAH11):c.3648+5G>T
|
|
|
NM_001277115.2(DNAH11):c.3648G>A (p.Glu1216=)
|
|
|
NM_001277115.2(DNAH11):c.3650A>G (p.Glu1217Gly)
|
|
|
NM_001277115.2(DNAH11):c.3730G>A (p.Val1244Ile)
|
rs1223706529
|
|
NM_001277115.2(DNAH11):c.3734C>T (p.Thr1245Ile)
|
rs1477380706
|
|
NM_001277115.2(DNAH11):c.380T>C (p.Val127Ala)
|
rs1583469159
|
|
NM_001277115.2(DNAH11):c.3836A>T (p.Tyr1279Phe)
|
rs1785301833
|
|
NM_001277115.2(DNAH11):c.3842C>G (p.Ala1281Gly)
|
rs770365463
|
|
NM_001277115.2(DNAH11):c.3871G>A (p.Ala1291Thr)
|
|
|
NM_001277115.2(DNAH11):c.3907A>G (p.Thr1303Ala)
|
|
|
NM_001277115.2(DNAH11):c.396G>T (p.Lys132Asn)
|
|
|
NM_001277115.2(DNAH11):c.4012-3C>A
|
rs1216609671
|
|
NM_001277115.2(DNAH11):c.4029G>C (p.Trp1343Cys)
|
|
|
NM_001277115.2(DNAH11):c.4082G>C (p.Arg1361Thr)
|
|
|
NM_001277115.2(DNAH11):c.4083_4085del (p.Arg1362del)
|
|
|
NM_001277115.2(DNAH11):c.4094A>C (p.Lys1365Thr)
|
rs1785780743
|
|
NM_001277115.2(DNAH11):c.4099A>G (p.Ile1367Val)
|
rs2128453076
|
|
NM_001277115.2(DNAH11):c.412G>A (p.Gly138Arg)
|
rs1216804983
|
|
NM_001277115.2(DNAH11):c.4203G>C (p.Gln1401His)
|
rs773302246
|
|
NM_001277115.2(DNAH11):c.4242G>A (p.Met1414Ile)
|
rs1785849014
|
|
NM_001277115.2(DNAH11):c.4316G>T (p.Arg1439Ile)
|
rs1785921849
|
|
NM_001277115.2(DNAH11):c.4318G>A (p.Val1440Met)
|
rs753773546
|
|
NM_001277115.2(DNAH11):c.4319T>C (p.Val1440Ala)
|
rs759450356
|
|
NM_001277115.2(DNAH11):c.434T>C (p.Val145Ala)
|
|
|
NM_001277115.2(DNAH11):c.4364_4365delinsCT (p.Leu1455Pro)
|
|
|
NM_001277115.2(DNAH11):c.4377G>A (p.Lys1459=)
|
rs1583534756
|
|
NM_001277115.2(DNAH11):c.4390A>G (p.Ile1464Val)
|
rs2128454118
|
|
NM_001277115.2(DNAH11):c.4405G>A (p.Ala1469Thr)
|
|
|
NM_001277115.2(DNAH11):c.4487T>C (p.Leu1496Pro)
|
|
|
NM_001277115.2(DNAH11):c.4495A>T (p.Asn1499Tyr)
|
rs764377953
|
|
NM_001277115.2(DNAH11):c.4529A>G (p.Lys1510Arg)
|
|
|
NM_001277115.2(DNAH11):c.458C>T (p.Ala153Val)
|
rs1583469217
|
|
NM_001277115.2(DNAH11):c.4631C>G (p.Ser1544Cys)
|
rs1370594077
|
|
NM_001277115.2(DNAH11):c.4645A>G (p.Ile1549Val)
|
rs1488994370
|
|
NM_001277115.2(DNAH11):c.4707G>T (p.Gly1569=)
|
rs780784315
|
|
NM_001277115.2(DNAH11):c.4817+6A>T
|
rs1006884453
|
|
NM_001277115.2(DNAH11):c.4818G>C (p.Arg1606Ser)
|
|
|
NM_001277115.2(DNAH11):c.4829G>C (p.Cys1610Ser)
|
rs750959340
|
|
NM_001277115.2(DNAH11):c.4891G>T (p.Val1631Phe)
|
rs766901693
|
|
NM_001277115.2(DNAH11):c.4901C>G (p.Ala1634Gly)
|
rs1583553658
|
|
NM_001277115.2(DNAH11):c.4915A>T (p.Ile1639Phe)
|
|
|
NM_001277115.2(DNAH11):c.493G>A (p.Glu165Lys)
|
rs1782756343
|
|
NM_001277115.2(DNAH11):c.4942C>G (p.Gln1648Glu)
|
|
|
NM_001277115.2(DNAH11):c.4944+6A>G
|
rs761989552
|
|
NM_001277115.2(DNAH11):c.4945-5T>G
|
rs886038468
|
|
NM_001277115.2(DNAH11):c.4974C>T (p.Asp1658=)
|
|
|
NM_001277115.2(DNAH11):c.5020C>T (p.His1674Tyr)
|
rs1452090160
|
|
NM_001277115.2(DNAH11):c.5036T>C (p.Met1679Thr)
|
|
|
NM_001277115.2(DNAH11):c.5068C>A (p.Gln1690Lys)
|
rs1254903583
|
|
NM_001277115.2(DNAH11):c.5087T>G (p.Val1696Gly)
|
rs781408519
|
|
NM_001277115.2(DNAH11):c.5094+4A>G
|
rs769984539
|
|
NM_001277115.2(DNAH11):c.5164A>T (p.Ile1722Leu)
|
|
|
NM_001277115.2(DNAH11):c.5259T>G (p.Asp1753Glu)
|
rs765453467
|
|
NM_001277115.2(DNAH11):c.5293T>A (p.Tyr1765Asn)
|
rs1782134654
|
|
NM_001277115.2(DNAH11):c.5416G>A (p.Asp1806Asn)
|
rs768955174
|
|
NM_001277115.2(DNAH11):c.5433C>A (p.Asp1811Glu)
|
|
|
NM_001277115.2(DNAH11):c.5447T>G (p.Leu1816Arg)
|
|
|
NM_001277115.2(DNAH11):c.5452T>A (p.Ser1818Thr)
|
rs1583589486
|
|
NM_001277115.2(DNAH11):c.5461-10A>G
|
|
|
NM_001277115.2(DNAH11):c.5503C>T (p.His1835Tyr)
|
|
|
NM_001277115.2(DNAH11):c.5505C>G (p.His1835Gln)
|
|
|
NM_001277115.2(DNAH11):c.5537T>A (p.Val1846Asp)
|
rs727502968
|
|
NM_001277115.2(DNAH11):c.5586C>G (p.Asn1862Lys)
|
rs1783251924
|
|
NM_001277115.2(DNAH11):c.5594G>T (p.Arg1865Leu)
|
rs749869317
|
|
NM_001277115.2(DNAH11):c.5754C>G (p.Asn1918Lys)
|
|
|
NM_001277115.2(DNAH11):c.575T>A (p.Ile192Lys)
|
|
|
NM_001277115.2(DNAH11):c.5798A>C (p.Lys1933Thr)
|
rs751945603
|
|
NM_001277115.2(DNAH11):c.5836G>A (p.Glu1946Lys)
|
rs1165469663
|
|
NM_001277115.2(DNAH11):c.5854G>A (p.Val1952Met)
|
rs1783427971
|
|
NM_001277115.2(DNAH11):c.590AGA[1] (p.Lys198del)
|
rs752229419
|
|
NM_001277115.2(DNAH11):c.5910A>C (p.Arg1970Ser)
|
|
|
NM_001277115.2(DNAH11):c.5924+5G>A
|
|
|
NM_001277115.2(DNAH11):c.594G>T (p.Lys198Asn)
|
rs762925566
|
|
NM_001277115.2(DNAH11):c.6062C>A (p.Pro2021His)
|
rs1227418580
|
|
NM_001277115.2(DNAH11):c.6086T>C (p.Ile2029Thr)
|
rs747820072
|
|
NM_001277115.2(DNAH11):c.6154C>T (p.Leu2052Phe)
|
rs1725389196
|
|
NM_001277115.2(DNAH11):c.6161A>C (p.Lys2054Thr)
|
rs1306063707
|
|
NM_001277115.2(DNAH11):c.6170T>C (p.Leu2057Pro)
|
rs777354329
|
|
NM_001277115.2(DNAH11):c.6176A>G (p.Lys2059Arg)
|
rs1783930160
|
|
NM_001277115.2(DNAH11):c.617T>C (p.Met206Thr)
|
|
|
NM_001277115.2(DNAH11):c.6180G>C (p.Gln2060His)
|
rs1481391495
|
|
NM_001277115.2(DNAH11):c.6195G>T (p.Trp2065Cys)
|
rs780650546
|
|
NM_001277115.2(DNAH11):c.6217G>A (p.Val2073Ile)
|
rs760953364
|
|
NM_001277115.2(DNAH11):c.6273+12C>G
|
rs373278618
|
|
NM_001277115.2(DNAH11):c.631C>G (p.Leu211Val)
|
rs1384315256
|
|
NM_001277115.2(DNAH11):c.6353G>A (p.Gly2118Asp)
|
rs1060503061
|
|
NM_001277115.2(DNAH11):c.6379C>T (p.Pro2127Ser)
|
rs1386882237
|
|
NM_001277115.2(DNAH11):c.6431A>T (p.Glu2144Val)
|
|
|
NM_001277115.2(DNAH11):c.6463C>T (p.Leu2155Phe)
|
rs1784195701
|
|
NM_001277115.2(DNAH11):c.6546+5A>G
|
rs761184068
|
|
NM_001277115.2(DNAH11):c.6574_6576dup (p.Val2192dup)
|
rs2128480173
|
|
NM_001277115.2(DNAH11):c.65C>T (p.Thr22Ile)
|
rs1562648351
|
|
NM_001277115.2(DNAH11):c.6706G>C (p.Gly2236Arg)
|
rs1583616682
|
|
NM_001277115.2(DNAH11):c.6709C>T (p.Leu2237Phe)
|
rs370225380
|
|
NM_001277115.2(DNAH11):c.6736G>C (p.Ala2246Pro)
|
rs1784428696
|
|
NM_001277115.2(DNAH11):c.6770T>A (p.Val2257Asp)
|
|
|
NM_001277115.2(DNAH11):c.6834+3G>A
|
|
|
NM_001277115.2(DNAH11):c.6853A>G (p.Asn2285Asp)
|
|
|
NM_001277115.2(DNAH11):c.6881T>C (p.Met2294Thr)
|
rs1554272411
|
|
NM_001277115.2(DNAH11):c.6935C>A (p.Ser2312Tyr)
|
rs1784474955
|
|
NM_001277115.2(DNAH11):c.6946A>G (p.Ile2316Val)
|
rs1289840978
|
|
NM_001277115.2(DNAH11):c.6966A>G (p.Gln2322=)
|
rs1583617850
|
|
NM_001277115.2(DNAH11):c.6983+5G>A
|
|
|
NM_001277115.2(DNAH11):c.6984-3C>T
|
rs2128482941
|
|
NM_001277115.2(DNAH11):c.6984G>A (p.Pro2328=)
|
rs761918179
|
|
NM_001277115.2(DNAH11):c.6998G>T (p.Trp2333Leu)
|
|
|
NM_001277115.2(DNAH11):c.7057T>C (p.Tyr2353His)
|
|
|
NM_001277115.2(DNAH11):c.7124G>A (p.Ser2375Asn)
|
rs1784726076
|
|
NM_001277115.2(DNAH11):c.7136C>T (p.Thr2379Ile)
|
|
|
NM_001277115.2(DNAH11):c.7205A>T (p.Tyr2402Phe)
|
|
|
NM_001277115.2(DNAH11):c.722A>G (p.His241Arg)
|
rs1783371740
|
|
NM_001277115.2(DNAH11):c.7324A>C (p.Lys2442Gln)
|
rs1785077339
|
|
NM_001277115.2(DNAH11):c.7329T>A (p.Phe2443Leu)
|
|
|
NM_001277115.2(DNAH11):c.7343C>A (p.Thr2448Lys)
|
|
|
NM_001277115.2(DNAH11):c.7346T>G (p.Ile2449Ser)
|
rs1240719613
|
|
NM_001277115.2(DNAH11):c.7410G>C (p.Gln2470His)
|
|
|
NM_001277115.2(DNAH11):c.7420G>C (p.Asp2474His)
|
|
|
NM_001277115.2(DNAH11):c.7433C>T (p.Pro2478Leu)
|
rs1785086357
|
|
NM_001277115.2(DNAH11):c.7490A>G (p.Glu2497Gly)
|
rs2128489072
|
|
NM_001277115.2(DNAH11):c.7528G>A (p.Gly2510Arg)
|
rs1785578919
|
|
NM_001277115.2(DNAH11):c.7625C>G (p.Thr2542Arg)
|
rs772521645
|
|
NM_001277115.2(DNAH11):c.7634C>T (p.Thr2545Ile)
|
rs759210659
|
|
NM_001277115.2(DNAH11):c.7646-60_7646-11del
|
|
|
NM_001277115.2(DNAH11):c.7720T>G (p.Phe2574Val)
|
rs1583645903
|
|
NM_001277115.2(DNAH11):c.7772C>T (p.Pro2591Leu)
|
rs387907258
|
|
NM_001277115.2(DNAH11):c.7776C>A (p.His2592Gln)
|
rs1109806
|
|
NM_001277115.2(DNAH11):c.7793A>G (p.His2598Arg)
|
rs1785739275
|
|
NM_001277115.2(DNAH11):c.7811+5G>A
|
|
|
NM_001277115.2(DNAH11):c.7811+5G>C
|
|
|
NM_001277115.2(DNAH11):c.7811+6C>T
|
rs1436992109
|
|
NM_001277115.2(DNAH11):c.7818T>A (p.Asp2606Glu)
|
rs1049247750
|
|
NM_001277115.2(DNAH11):c.7819A>G (p.Arg2607Gly)
|
|
|
NM_001277115.2(DNAH11):c.784T>G (p.Ser262Ala)
|
rs759930423
|
|
NM_001277115.2(DNAH11):c.7859A>G (p.Tyr2620Cys)
|
rs754268577
|
|
NM_001277115.2(DNAH11):c.7891_7893del (p.Phe2631del)
|
rs1785785582
|
|
NM_001277115.2(DNAH11):c.7897A>G (p.Ile2633Val)
|
rs1583647020
|
|
NM_001277115.2(DNAH11):c.7913A>C (p.Gln2638Pro)
|
rs1417718316
|
|
NM_001277115.2(DNAH11):c.7932T>A (p.Phe2644Leu)
|
rs904849195
|
|
NM_001277115.2(DNAH11):c.7945C>T (p.Pro2649Ser)
|
rs1785919163
|
|
NM_001277115.2(DNAH11):c.8065T>C (p.Phe2689Leu)
|
rs1785929432
|
|
NM_001277115.2(DNAH11):c.8117A>G (p.Tyr2706Cys)
|
rs1060503066
|
|
NM_001277115.2(DNAH11):c.8140T>A (p.Ser2714Thr)
|
rs1785934224
|
|
NM_001277115.2(DNAH11):c.8184A>C (p.Leu2728Phe)
|
rs374924146
|
|
NM_001277115.2(DNAH11):c.8242G>A (p.Asp2748Asn)
|
rs1554276379
|
|
NM_001277115.2(DNAH11):c.8274G>C (p.Leu2758Phe)
|
|
|
NM_001277115.2(DNAH11):c.8316+5G>A
|
rs1048811611
|
|
NM_001277115.2(DNAH11):c.8318G>A (p.Gly2773Asp)
|
|
|
NM_001277115.2(DNAH11):c.8371G>C (p.Asp2791His)
|
|
|
NM_001277115.2(DNAH11):c.8415A>G (p.Glu2805=)
|
rs1060503055
|
|
NM_001277115.2(DNAH11):c.8465A>C (p.Asn2822Thr)
|
|
|
NM_001277115.2(DNAH11):c.8516G>T (p.Arg2839Leu)
|
rs1253630975
|
|
NM_001277115.2(DNAH11):c.8554C>G (p.Leu2852Val)
|
rs1363623324
|
|
NM_001277115.2(DNAH11):c.8558T>C (p.Leu2853Ser)
|
rs1053893041
|
|
NM_001277115.2(DNAH11):c.8558T>G (p.Leu2853Trp)
|
rs1053893041
|
|
NM_001277115.2(DNAH11):c.8560G>T (p.Val2854Phe)
|
rs1786264555
|
|
NM_001277115.2(DNAH11):c.8579G>T (p.Gly2860Val)
|
|
|
NM_001277115.2(DNAH11):c.8579_8582delinsACAG (p.Gly2860_Lys2861delinsAspArg)
|
rs1060503060
|
|
NM_001277115.2(DNAH11):c.8606C>T (p.Ala2869Val)
|
rs2128492615
|
|
NM_001277115.2(DNAH11):c.8620C>T (p.Leu2874Phe)
|
rs1060503065
|
|
NM_001277115.2(DNAH11):c.8645C>A (p.Thr2882Asn)
|
|
|
NM_001277115.2(DNAH11):c.8653T>C (p.Tyr2885His)
|
|
|
NM_001277115.2(DNAH11):c.8654A>G (p.Tyr2885Cys)
|
rs758234780
|
|
NM_001277115.2(DNAH11):c.8714A>T (p.Asn2905Ile)
|
rs1554276924
|
|
NM_001277115.2(DNAH11):c.8835C>G (p.Asp2945Glu)
|
|
|
NM_001277115.2(DNAH11):c.8839A>G (p.Ile2947Val)
|
|
|
NM_001277115.2(DNAH11):c.8870C>T (p.Ala2957Val)
|
|
|
NM_001277115.2(DNAH11):c.8913T>G (p.Phe2971Leu)
|
rs1554277057
|
|
NM_001277115.2(DNAH11):c.9126C>G (p.Ser3042Arg)
|
|
|
NM_001277115.2(DNAH11):c.9139C>T (p.His3047Tyr)
|
rs1159816817
|
|
NM_001277115.2(DNAH11):c.9172A>G (p.Arg3058Gly)
|
|
|
NM_001277115.2(DNAH11):c.9212C>A (p.Pro3071Gln)
|
|
|
NM_001277115.2(DNAH11):c.9218_9219delinsTC (p.Ser3073Ile)
|
|
|
NM_001277115.2(DNAH11):c.9243T>A (p.Phe3081Leu)
|
|
|
NM_001277115.2(DNAH11):c.9336+3A>G
|
|
|
NM_001277115.2(DNAH11):c.9380T>G (p.Leu3127Arg)
|
rs755885697
|
|
NM_001277115.2(DNAH11):c.939C>G (p.Ser313Arg)
|
rs72655977
|
|
NM_001277115.2(DNAH11):c.9406G>T (p.Ala3136Ser)
|
rs2127982511
|
|
NM_001277115.2(DNAH11):c.947C>T (p.Pro316Leu)
|
|
|
NM_001277115.2(DNAH11):c.9488C>T (p.Thr3163Ile)
|
rs1450055499
|
|
NM_001277115.2(DNAH11):c.9542T>C (p.Leu3181Pro)
|
rs747056886
|
|
NM_001277115.2(DNAH11):c.9553C>A (p.Pro3185Thr)
|
rs960341299
|
|
NM_001277115.2(DNAH11):c.9563T>A (p.Val3188Glu)
|
rs761194521
|
|
NM_001277115.2(DNAH11):c.9608G>C (p.Ser3203Thr)
|
|
|
NM_001277115.2(DNAH11):c.9643G>C (p.Val3215Leu)
|
|
|
NM_001277115.2(DNAH11):c.9675_9677del (p.Leu3226del)
|
rs759608996
|
|
NM_001277115.2(DNAH11):c.9689G>A (p.Gly3230Glu)
|
|
|
NM_001277115.2(DNAH11):c.9691A>G (p.Arg3231Gly)
|
|
|
NM_001277115.2(DNAH11):c.9718G>A (p.Ala3240Thr)
|
rs2127986981
|
|
NM_001277115.2(DNAH11):c.9732C>G (p.Phe3244Leu)
|
rs878854449
|
|
NM_001277115.2(DNAH11):c.9761C>A (p.Ala3254Glu)
|
|
|
NM_001277115.2(DNAH11):c.97G>A (p.Val33Met)
|
rs1401125804
|
|
NM_001277115.2(DNAH11):c.9815A>G (p.Asn3272Ser)
|
rs1554281016
|
|
NM_001277115.2(DNAH11):c.9826T>G (p.Leu3276Val)
|
rs781418836
|
|
NM_001277115.2(DNAH11):c.9949C>T (p.Arg3317Cys)
|
|
|
NM_001278293.3(ARL6):c.107A>G (p.Lys36Arg)
|
|
|
NM_001278293.3(ARL6):c.109C>G (p.Leu37Val)
|
rs746549147
|
|
NM_001278293.3(ARL6):c.122A>G (p.Asn41Ser)
|
rs1488740103
|
|
NM_001278293.3(ARL6):c.140T>A (p.Ile47Asn)
|
rs757995078
|
|
NM_001278293.3(ARL6):c.140T>C (p.Ile47Thr)
|
|
|
NM_001278293.3(ARL6):c.143T>A (p.Leu48His)
|
rs895572972
|
|
NM_001278293.3(ARL6):c.152T>C (p.Ile51Thr)
|
|
|
NM_001278293.3(ARL6):c.166G>C (p.Glu56Gln)
|
rs2108031980
|
|
NM_001278293.3(ARL6):c.17G>A (p.Arg6Lys)
|
rs751957701
|
|
NM_001278293.3(ARL6):c.215G>C (p.Gly72Ala)
|
|
|
NM_001278293.3(ARL6):c.221G>A (p.Gly74Glu)
|
|
|
NM_001278293.3(ARL6):c.235C>T (p.Leu79Phe)
|
|
|
NM_001278293.3(ARL6):c.255A>G (p.Lys85=)
|
|
|
NM_001278293.3(ARL6):c.296G>A (p.Arg99Lys)
|
|
|
NM_001278293.3(ARL6):c.308T>C (p.Val103Ala)
|
|
|
NM_001278293.3(ARL6):c.30G>C (p.Leu10Phe)
|
rs963216166
|
|
NM_001278293.3(ARL6):c.319GAA[1] (p.Glu108del)
|
|
|
NM_001278293.3(ARL6):c.320A>G (p.Glu107Gly)
|
|
|
NM_001278293.3(ARL6):c.328G>A (p.Asp110Asn)
|
rs200100002
|
|
NM_001278293.3(ARL6):c.341A>G (p.Asn114Ser)
|
rs2037385151
|
|
NM_001278293.3(ARL6):c.349+4T>C
|
rs1214919112
|
|
NM_001278293.3(ARL6):c.386C>T (p.Ala129Val)
|
|
|
NM_001278293.3(ARL6):c.409G>T (p.Ala137Ser)
|
|
|
NM_001278293.3(ARL6):c.40AAG[2] (p.Lys16del)
|
rs748472414
|
|
NM_001278293.3(ARL6):c.43A>G (p.Lys15Glu)
|
rs535835888
|
|
NM_001278293.3(ARL6):c.479+4_479+5del
|
rs1285267571
|
|
NM_001278293.3(ARL6):c.480-3C>G
|
rs2108084021
|
|
NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys)
|
rs201736026
|
|
NM_001278293.3(ARL6):c.4G>C (p.Gly2Arg)
|
|
|
NM_001278293.3(ARL6):c.521T>C (p.Val174Ala)
|
|
|
NM_001278293.3(ARL6):c.524A>C (p.Asp175Ala)
|
rs570080567
|
|
NM_001278293.3(ARL6):c.52G>A (p.Val18Ile)
|
|
|
NM_001278293.3(ARL6):c.551_552del (p.Val184fs)
|
rs2038086555
|
|
NM_001278293.3(ARL6):c.71G>A (p.Gly24Glu)
|
rs1282560467
|
|
NM_001278293.3(ARL6):c.76G>T (p.Asp26Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.*3G>A
|
rs748083468
|
|
NM_001329943.3(KIAA0586):c.-20C>T
|
|
|
NM_001329943.3(KIAA0586):c.-28G>A
|
|
|
NM_001329943.3(KIAA0586):c.-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.-33C>G
|
rs1246692312
|
|
NM_001329943.3(KIAA0586):c.-4C>G
|
|
|
NM_001329943.3(KIAA0586):c.100G>A (p.Val34Ile)
|
rs186659284
|
|
NM_001329943.3(KIAA0586):c.1030C>T (p.Arg344Cys)
|
|
|
NM_001329943.3(KIAA0586):c.1088T>C (p.Leu363Pro)
|
|
|
NM_001329943.3(KIAA0586):c.1096G>A (p.Glu366Lys)
|
|
|
NM_001329943.3(KIAA0586):c.1099A>C (p.Lys367Gln)
|
|
|
NM_001329943.3(KIAA0586):c.1129+6A>C
|
|
|
NM_001329943.3(KIAA0586):c.1130G>A (p.Gly377Glu)
|
|
|
NM_001329943.3(KIAA0586):c.1133A>G (p.Asn378Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1133A>T (p.Asn378Ile)
|
|
|
NM_001329943.3(KIAA0586):c.1152A>C (p.Gln384His)
|
rs963677243
|
|
NM_001329943.3(KIAA0586):c.1163A>G (p.Asn388Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1172C>G (p.Ser391Cys)
|
rs2039563292
|
|
NM_001329943.3(KIAA0586):c.117G>C (p.Glu39Asp)
|
rs190089844
|
|
NM_001329943.3(KIAA0586):c.1182A>C (p.Arg394Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1187G>A (p.Ser396Asn)
|
rs1349839476
|
|
NM_001329943.3(KIAA0586):c.1189G>A (p.Glu397Lys)
|
|
|
NM_001329943.3(KIAA0586):c.1196C>T (p.Ser399Leu)
|
rs2140763302
|
|
NM_001329943.3(KIAA0586):c.1225A>G (p.Ile409Val)
|
|
|
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys)
|
rs548318176
|
|
NM_001329943.3(KIAA0586):c.1254-19A>T
|
rs2140825179
|
|
NM_001329943.3(KIAA0586):c.125G>A (p.Cys42Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.1273C>G (p.Leu425Val)
|
|
|
NM_001329943.3(KIAA0586):c.127G>A (p.Val43Ile)
|
|
|
NM_001329943.3(KIAA0586):c.1369G>C (p.Glu457Gln)
|
rs2140843404
|
|
NM_001329943.3(KIAA0586):c.1373C>A (p.Ser458Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.1405C>A (p.Gln469Lys)
|
rs1323358756
|
|
NM_001329943.3(KIAA0586):c.1409A>G (p.Asn470Ser)
|
rs1245858530
|
|
NM_001329943.3(KIAA0586):c.1424A>T (p.Gln475Leu)
|
|
|
NM_001329943.3(KIAA0586):c.143C>T (p.Ser48Phe)
|
rs761150154
|
|
NM_001329943.3(KIAA0586):c.1443A>G (p.Arg481=)
|
|
|
NM_001329943.3(KIAA0586):c.1445C>T (p.Ser482Phe)
|
rs369211190
|
|
NM_001329943.3(KIAA0586):c.1447G>A (p.Val483Ile)
|
|
|
NM_001329943.3(KIAA0586):c.1459G>T (p.Ala487Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1484A>G (p.Gln495Arg)
|
rs2040004897
|
|
NM_001329943.3(KIAA0586):c.1487A>G (p.Asn496Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1501C>T (p.Leu501Phe)
|
|
|
NM_001329943.3(KIAA0586):c.1508A>G (p.Glu503Gly)
|
|
|
NM_001329943.3(KIAA0586):c.1512C>A (p.Asn504Lys)
|
|
|
NM_001329943.3(KIAA0586):c.1513C>G (p.Leu505Val)
|
|
|
NM_001329943.3(KIAA0586):c.1538A>G (p.Asp513Gly)
|
|
|
NM_001329943.3(KIAA0586):c.1573T>C (p.Ser525Pro)
|
|
|
NM_001329943.3(KIAA0586):c.1576A>T (p.Thr526Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1631T>G (p.Ile544Ser)
|
rs2140854100
|
|
NM_001329943.3(KIAA0586):c.1651A>G (p.Ile551Val)
|
|
|
NM_001329943.3(KIAA0586):c.1667C>T (p.Ser556Leu)
|
|
|
NM_001329943.3(KIAA0586):c.167G>A (p.Gly56Glu)
|
|
|
NM_001329943.3(KIAA0586):c.1745T>G (p.Ile582Ser)
|
|
|
NM_001329943.3(KIAA0586):c.1775A>G (p.Asn592Ser)
|
rs2140874422
|
|
NM_001329943.3(KIAA0586):c.1799A>C (p.His600Pro)
|
|
|
NM_001329943.3(KIAA0586):c.1799A>G (p.His600Arg)
|
rs780461594
|
|
NM_001329943.3(KIAA0586):c.1810C>G (p.Gln604Glu)
|
|
|
NM_001329943.3(KIAA0586):c.1852C>G (p.Pro618Ala)
|
|
|
NM_001329943.3(KIAA0586):c.1861A>G (p.Ser621Gly)
|
|
|
NM_001329943.3(KIAA0586):c.1870A>G (p.Lys624Glu)
|
|
|
NM_001329943.3(KIAA0586):c.1886G>A (p.Gly629Glu)
|
rs940229482
|
|
NM_001329943.3(KIAA0586):c.1903A>G (p.Thr635Ala)
|
|
|
NM_001329943.3(KIAA0586):c.1916A>G (p.Asp639Gly)
|
rs1210187670
|
|
NM_001329943.3(KIAA0586):c.1932A>T (p.Leu644Phe)
|
rs2140886222
|
|
NM_001329943.3(KIAA0586):c.193T>C (p.Ser65Pro)
|
rs1473572852
|
|
NM_001329943.3(KIAA0586):c.1964A>G (p.His655Arg)
|
rs769913250
|
|
NM_001329943.3(KIAA0586):c.1999T>C (p.Phe667Leu)
|
|
|
NM_001329943.3(KIAA0586):c.199G>A (p.Gly67Ser)
|
rs2140375856
|
|
NM_001329943.3(KIAA0586):c.2002A>T (p.Asn668Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.2012C>G (p.Ser671Cys)
|
|
|
NM_001329943.3(KIAA0586):c.2017A>G (p.Lys673Glu)
|
|
|
NM_001329943.3(KIAA0586):c.2024G>A (p.Arg675Lys)
|
|
|
NM_001329943.3(KIAA0586):c.2041G>C (p.Val681Leu)
|
|
|
NM_001329943.3(KIAA0586):c.2044A>T (p.Ile682Leu)
|
rs751924115
|
|
NM_001329943.3(KIAA0586):c.2059G>T (p.Gly687Cys)
|
|
|
NM_001329943.3(KIAA0586):c.2060G>T (p.Gly687Val)
|
|
|
NM_001329943.3(KIAA0586):c.2062A>G (p.Thr688Ala)
|
rs2140939104
|
|
NM_001329943.3(KIAA0586):c.2063C>A (p.Thr688Asn)
|
rs1868384082
|
|
NM_001329943.3(KIAA0586):c.2105C>T (p.Thr702Ile)
|
|
|
NM_001329943.3(KIAA0586):c.2131A>G (p.Met711Val)
|
|
|
NM_001329943.3(KIAA0586):c.213_270+11dup
|
|
|
NM_001329943.3(KIAA0586):c.2141C>G (p.Ser714Cys)
|
rs2140939862
|
|
NM_001329943.3(KIAA0586):c.2153T>C (p.Leu718Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2158C>T (p.His720Tyr)
|
rs757373300
|
|
NM_001329943.3(KIAA0586):c.215C>A (p.Thr72Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2164G>A (p.Asp722Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2164G>T (p.Asp722Tyr)
|
rs750671663
|
|
NM_001329943.3(KIAA0586):c.2185C>T (p.Pro729Ser)
|
rs2140940326
|
|
NM_001329943.3(KIAA0586):c.2203A>G (p.Thr735Ala)
|
rs1489902309
|
|
NM_001329943.3(KIAA0586):c.2207T>A (p.Phe736Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.2213G>T (p.Gly738Val)
|
|
|
NM_001329943.3(KIAA0586):c.2239A>G (p.Met747Val)
|
|
|
NM_001329943.3(KIAA0586):c.2255-3T>C
|
rs2140956887
|
|
NM_001329943.3(KIAA0586):c.2260A>T (p.Thr754Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2270A>G (p.Asn757Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2320G>A (p.Val774Ile)
|
|
|
NM_001329943.3(KIAA0586):c.2324C>A (p.Thr775Asn)
|
rs2140957750
|
|
NM_001329943.3(KIAA0586):c.2348C>T (p.Ser783Leu)
|
|
|
NM_001329943.3(KIAA0586):c.2362G>A (p.Glu788Lys)
|
|
|
NM_001329943.3(KIAA0586):c.2380C>T (p.Pro794Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2388A>G (p.Ile796Met)
|
|
|
NM_001329943.3(KIAA0586):c.2411A>G (p.Glu804Gly)
|
rs1302610013
|
|
NM_001329943.3(KIAA0586):c.2411A>T (p.Glu804Val)
|
rs1302610013
|
|
NM_001329943.3(KIAA0586):c.2413A>G (p.Lys805Glu)
|
|
|
NM_001329943.3(KIAA0586):c.241C>G (p.Leu81Val)
|
rs2140391234
|
|
NM_001329943.3(KIAA0586):c.2426C>T (p.Pro809Leu)
|
|
|
NM_001329943.3(KIAA0586):c.2435C>A (p.Thr812Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2437G>A (p.Val813Met)
|
|
|
NM_001329943.3(KIAA0586):c.2449C>G (p.Pro817Ala)
|
|
|
NM_001329943.3(KIAA0586):c.2461A>G (p.Ile821Val)
|
|
|
NM_001329943.3(KIAA0586):c.2462T>C (p.Ile821Thr)
|
rs1320727649
|
|
NM_001329943.3(KIAA0586):c.2465A>G (p.Asp822Gly)
|
|
|
NM_001329943.3(KIAA0586):c.2469C>A (p.Ser823Arg)
|
|
|
NM_001329943.3(KIAA0586):c.2469_2483del (p.Ile824_Ser828del)
|
rs750244824
|
|
NM_001329943.3(KIAA0586):c.2476A>C (p.Asn826His)
|
rs763982126
|
|
NM_001329943.3(KIAA0586):c.2476A>G (p.Asn826Asp)
|
|
|
NM_001329943.3(KIAA0586):c.2480G>A (p.Ser827Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2486C>A (p.Ala829Asp)
|
|
|
NM_001329943.3(KIAA0586):c.2486C>T (p.Ala829Val)
|
rs200219991
|
|
NM_001329943.3(KIAA0586):c.2521G>A (p.Ala841Thr)
|
rs2140987094
|
|
NM_001329943.3(KIAA0586):c.2525C>T (p.Ser842Phe)
|
rs749680733
|
|
NM_001329943.3(KIAA0586):c.253C>T (p.Pro85Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2553+6T>C
|
|
|
NM_001329943.3(KIAA0586):c.2553G>A (p.Lys851=)
|
rs1024217852
|
|
NM_001329943.3(KIAA0586):c.2553G>T (p.Lys851Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2554-14A>G
|
|
|
NM_001329943.3(KIAA0586):c.2557C>T (p.Pro853Ser)
|
|
|
NM_001329943.3(KIAA0586):c.257T>G (p.Met86Arg)
|
rs74055693
|
|
NM_001329943.3(KIAA0586):c.2617A>G (p.Ile873Val)
|
rs2041278053
|
|
NM_001329943.3(KIAA0586):c.2622C>G (p.Ile874Met)
|
|
|
NM_001329943.3(KIAA0586):c.2624A>T (p.Asp875Val)
|
rs868621645
|
|
NM_001329943.3(KIAA0586):c.2630T>C (p.Ile877Thr)
|
|
|
NM_001329943.3(KIAA0586):c.2634+10C>G
|
|
|
NM_001329943.3(KIAA0586):c.2634+5C>G
|
|
|
NM_001329943.3(KIAA0586):c.2650G>A (p.Asp884Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2693G>A (p.Ser898Asn)
|
rs760087214
|
|
NM_001329943.3(KIAA0586):c.269G>C (p.Ser90Thr)
|
rs780403471
|
|
NM_001329943.3(KIAA0586):c.270+3A>G
|
rs2140391500
|
|
NM_001329943.3(KIAA0586):c.270+7A>C
|
|
|
NM_001329943.3(KIAA0586):c.2708C>A (p.Ser903Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.2717A>G (p.Tyr906Cys)
|
|
|
NM_001329943.3(KIAA0586):c.2723G>C (p.Gly908Ala)
|
rs753434086
|
|
NM_001329943.3(KIAA0586):c.2729C>T (p.Pro910Leu)
|
|
|
NM_001329943.3(KIAA0586):c.272A>G (p.Asp91Gly)
|
|
|
NM_001329943.3(KIAA0586):c.2749A>G (p.Thr917Ala)
|
|
|
NM_001329943.3(KIAA0586):c.2756A>G (p.Gln919Arg)
|
rs2141025129
|
|
NM_001329943.3(KIAA0586):c.2758C>G (p.Pro920Ala)
|
|
|
NM_001329943.3(KIAA0586):c.2786T>C (p.Ile929Thr)
|
|
|
NM_001329943.3(KIAA0586):c.2788_2802del (p.Glu930_Thr934del)
|
rs2141025393
|
|
NM_001329943.3(KIAA0586):c.2822A>G (p.Gln941Arg)
|
|
|
NM_001329943.3(KIAA0586):c.2826-8C>A
|
rs2141053167
|
|
NM_001329943.3(KIAA0586):c.2839A>G (p.Ile947Val)
|
|
|
NM_001329943.3(KIAA0586):c.2849G>T (p.Arg950Ile)
|
rs2141053576
|
|
NM_001329943.3(KIAA0586):c.2860G>T (p.Gly954Trp)
|
|
|
NM_001329943.3(KIAA0586):c.2885T>C (p.Ile962Thr)
|
|
|
NM_001329943.3(KIAA0586):c.2890C>T (p.Pro964Ser)
|
|
|
NM_001329943.3(KIAA0586):c.2894G>T (p.Ser965Ile)
|
rs1161690227
|
|
NM_001329943.3(KIAA0586):c.2924A>G (p.Glu975Gly)
|
rs2141054763
|
|
NM_001329943.3(KIAA0586):c.2936C>T (p.Ser979Phe)
|
|
|
NM_001329943.3(KIAA0586):c.2953A>G (p.Thr985Ala)
|
|
|
NM_001329943.3(KIAA0586):c.2960G>A (p.Ser987Asn)
|
|
|
NM_001329943.3(KIAA0586):c.2977T>C (p.Phe993Leu)
|
|
|
NM_001329943.3(KIAA0586):c.2990G>T (p.Gly997Val)
|
|
|
NM_001329943.3(KIAA0586):c.2T>A (p.Met1Lys)
|
rs2140372595
|
|
NM_001329943.3(KIAA0586):c.3037C>G (p.Leu1013Val)
|
|
|
NM_001329943.3(KIAA0586):c.3053C>A (p.Ala1018Asp)
|
rs182274649
|
|
NM_001329943.3(KIAA0586):c.3058A>G (p.Met1020Val)
|
rs767378597
|
|
NM_001329943.3(KIAA0586):c.3077C>T (p.Ala1026Val)
|
|
|
NM_001329943.3(KIAA0586):c.3089G>A (p.Gly1030Asp)
|
rs2042116751
|
|
NM_001329943.3(KIAA0586):c.3110C>G (p.Ser1037Cys)
|
rs367811307
|
|
NM_001329943.3(KIAA0586):c.3144+3A>G
|
rs956345090
|
|
NM_001329943.3(KIAA0586):c.3145-6_3145-2del
|
|
|
NM_001329943.3(KIAA0586):c.3149G>A (p.Arg1050Lys)
|
rs1472123420
|
|
NM_001329943.3(KIAA0586):c.3152T>C (p.Val1051Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3164T>C (p.Leu1055Pro)
|
rs1453619075
|
|
NM_001329943.3(KIAA0586):c.3169_3171dup (p.Thr1057_Pro1058insThr)
|
|
|
NM_001329943.3(KIAA0586):c.3179C>G (p.Pro1060Arg)
|
|
|
NM_001329943.3(KIAA0586):c.3182C>T (p.Thr1061Met)
|
|
|
NM_001329943.3(KIAA0586):c.3185C>T (p.Pro1062Leu)
|
|
|
NM_001329943.3(KIAA0586):c.3190T>A (p.Cys1064Ser)
|
|
|
NM_001329943.3(KIAA0586):c.319G>A (p.Glu107Lys)
|
rs2140404760
|
|
NM_001329943.3(KIAA0586):c.3206C>T (p.Pro1069Leu)
|
rs2141182370
|
|
NM_001329943.3(KIAA0586):c.3226G>A (p.Val1076Ile)
|
|
|
NM_001329943.3(KIAA0586):c.3226G>T (p.Val1076Leu)
|
|
|
NM_001329943.3(KIAA0586):c.322G>A (p.Glu108Lys)
|
|
|
NM_001329943.3(KIAA0586):c.3232A>G (p.Thr1078Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3238G>A (p.Asp1080Asn)
|
rs2042507801
|
|
NM_001329943.3(KIAA0586):c.3250T>C (p.Cys1084Arg)
|
|
|
NM_001329943.3(KIAA0586):c.3266A>G (p.Asp1089Gly)
|
rs187091758
|
|
NM_001329943.3(KIAA0586):c.3300A>T (p.Glu1100Asp)
|
|
|
NM_001329943.3(KIAA0586):c.3304+5A>C
|
|
|
NM_001329943.3(KIAA0586):c.3304G>A (p.Gly1102Arg)
|
|
|
NM_001329943.3(KIAA0586):c.3305-3T>C
|
|
|
NM_001329943.3(KIAA0586):c.3307G>A (p.Asp1103Asn)
|
rs2141192396
|
|
NM_001329943.3(KIAA0586):c.3322A>G (p.Ile1108Val)
|
|
|
NM_001329943.3(KIAA0586):c.3326T>C (p.Met1109Thr)
|
|
|
NM_001329943.3(KIAA0586):c.3338C>T (p.Thr1113Ile)
|
|
|
NM_001329943.3(KIAA0586):c.335A>G (p.Gln112Arg)
|
|
|
NM_001329943.3(KIAA0586):c.3362C>T (p.Thr1121Ile)
|
rs2141193303
|
|
NM_001329943.3(KIAA0586):c.3366TCC[1] (p.Pro1124del)
|
rs770153870
|
|
NM_001329943.3(KIAA0586):c.3371C>T (p.Pro1124Leu)
|
|
|
NM_001329943.3(KIAA0586):c.3373G>A (p.Ala1125Thr)
|
rs2141193523
|
|
NM_001329943.3(KIAA0586):c.3394A>G (p.Thr1132Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3399G>T (p.Leu1133Phe)
|
rs1409454378
|
|
NM_001329943.3(KIAA0586):c.33A>T (p.Lys11Asn)
|
|
|
NM_001329943.3(KIAA0586):c.3405T>G (p.Asp1135Glu)
|
|
|
NM_001329943.3(KIAA0586):c.3415_3416delinsTG (p.Asp1139Cys)
|
rs2141194171
|
|
NM_001329943.3(KIAA0586):c.3418A>G (p.Lys1140Glu)
|
|
|
NM_001329943.3(KIAA0586):c.3427G>T (p.Val1143Leu)
|
|
|
NM_001329943.3(KIAA0586):c.3433A>T (p.Ser1145Cys)
|
|
|
NM_001329943.3(KIAA0586):c.3437C>T (p.Pro1146Leu)
|
rs2042587558
|
|
NM_001329943.3(KIAA0586):c.344A>C (p.Asn115Thr)
|
|
|
NM_001329943.3(KIAA0586):c.3451C>A (p.Pro1151Thr)
|
rs2141194729
|
|
NM_001329943.3(KIAA0586):c.3458G>T (p.Gly1153Val)
|
rs2141194889
|
|
NM_001329943.3(KIAA0586):c.345T>A (p.Asn115Lys)
|
rs778492541
|
|
NM_001329943.3(KIAA0586):c.3461A>T (p.Asp1154Val)
|
|
|
NM_001329943.3(KIAA0586):c.3479A>C (p.Glu1160Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3490C>T (p.Pro1164Ser)
|
|
|
NM_001329943.3(KIAA0586):c.3500C>T (p.Pro1167Leu)
|
|
|
NM_001329943.3(KIAA0586):c.3505GAA[1] (p.Glu1170del)
|
rs778377845
|
|
NM_001329943.3(KIAA0586):c.3510A>T (p.Glu1170Asp)
|
|
|
NM_001329943.3(KIAA0586):c.3518C>G (p.Pro1173Arg)
|
rs2141195740
|
|
NM_001329943.3(KIAA0586):c.3544A>G (p.Lys1182Glu)
|
|
|
NM_001329943.3(KIAA0586):c.3562A>T (p.Ser1188Cys)
|
|
|
NM_001329943.3(KIAA0586):c.3566T>C (p.Met1189Thr)
|
|
|
NM_001329943.3(KIAA0586):c.3574C>T (p.Pro1192Ser)
|
|
|
NM_001329943.3(KIAA0586):c.3589C>T (p.Pro1197Ser)
|
|
|
NM_001329943.3(KIAA0586):c.3598C>G (p.Pro1200Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3620C>T (p.Pro1207Leu)
|
rs750251144
|
|
NM_001329943.3(KIAA0586):c.362A>T (p.Gln121Leu)
|
|
|
NM_001329943.3(KIAA0586):c.3631A>C (p.Lys1211Gln)
|
rs754567597
|
|
NM_001329943.3(KIAA0586):c.3633G>C (p.Lys1211Asn)
|
rs780785984
|
|
NM_001329943.3(KIAA0586):c.363G>T (p.Gln121His)
|
rs368352741
|
|
NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys)
|
rs746136288
|
|
NM_001329943.3(KIAA0586):c.3670T>G (p.Ser1224Ala)
|
rs1292752792
|
|
NM_001329943.3(KIAA0586):c.3673A>G (p.Thr1225Ala)
|
|
|
NM_001329943.3(KIAA0586):c.367A>T (p.Thr123Ser)
|
rs183240083
|
|
NM_001329943.3(KIAA0586):c.3685A>C (p.Thr1229Pro)
|
|
|
NM_001329943.3(KIAA0586):c.368C>A (p.Thr123Lys)
|
rs2140422825
|
|
NM_001329943.3(KIAA0586):c.3704C>T (p.Thr1235Ile)
|
|
|
NM_001329943.3(KIAA0586):c.370A>G (p.Met124Val)
|
rs2037453984
|
|
NM_001329943.3(KIAA0586):c.3716C>T (p.Thr1239Ile)
|
|
|
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg)
|
rs1595348112
|
|
NM_001329943.3(KIAA0586):c.374G>A (p.Gly125Glu)
|
|
|
NM_001329943.3(KIAA0586):c.3780G>A (p.Lys1260=)
|
|
|
NM_001329943.3(KIAA0586):c.3794T>C (p.Ile1265Thr)
|
rs756960694
|
|
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val)
|
rs1425457941
|
|
NM_001329943.3(KIAA0586):c.3808A>G (p.Thr1270Ala)
|
|
|
NM_001329943.3(KIAA0586):c.3820_3822del (p.Asp1274del)
|
rs1399193101
|
|
NM_001329943.3(KIAA0586):c.3821A>G (p.Asp1274Gly)
|
|
|
NM_001329943.3(KIAA0586):c.3824G>C (p.Ser1275Thr)
|
rs748648408
|
|
NM_001329943.3(KIAA0586):c.3843T>A (p.His1281Gln)
|
|
|
NM_001329943.3(KIAA0586):c.3850G>A (p.Val1284Ile)
|
|
|
NM_001329943.3(KIAA0586):c.3858+4A>G
|
rs2042748796
|
|
NM_001329943.3(KIAA0586):c.3868_3869delinsGT (p.Pro1290Val)
|
|
|
NM_001329943.3(KIAA0586):c.3871C>T (p.Pro1291Ser)
|
|
|
NM_001329943.3(KIAA0586):c.3883C>G (p.Gln1295Glu)
|
rs2141237535
|
|
NM_001329943.3(KIAA0586):c.3885A>G (p.Gln1295=)
|
rs779179754
|
|
NM_001329943.3(KIAA0586):c.3886G>A (p.Val1296Met)
|
|
|
NM_001329943.3(KIAA0586):c.3896T>C (p.Met1299Thr)
|
|
|
NM_001329943.3(KIAA0586):c.3917C>T (p.Ala1306Val)
|
rs1369311999
|
|
NM_001329943.3(KIAA0586):c.3940A>C (p.Lys1314Gln)
|
rs1270703288
|
|
NM_001329943.3(KIAA0586):c.3940A>G (p.Lys1314Glu)
|
|
|
NM_001329943.3(KIAA0586):c.3968A>G (p.Gln1323Arg)
|
|
|
NM_001329943.3(KIAA0586):c.3990G>A (p.Glu1330=)
|
|
|
NM_001329943.3(KIAA0586):c.3997G>A (p.Glu1333Lys)
|
|
|
NM_001329943.3(KIAA0586):c.4001A>G (p.Asn1334Ser)
|
|
|
NM_001329943.3(KIAA0586):c.4028A>G (p.Gln1343Arg)
|
|
|
NM_001329943.3(KIAA0586):c.4033C>A (p.Pro1345Thr)
|
|
|
NM_001329943.3(KIAA0586):c.4048G>A (p.Ala1350Thr)
|
|
|
NM_001329943.3(KIAA0586):c.4049C>A (p.Ala1350Glu)
|
|
|
NM_001329943.3(KIAA0586):c.4054G>A (p.Glu1352Lys)
|
|
|
NM_001329943.3(KIAA0586):c.4073A>G (p.His1358Arg)
|
rs1260148388
|
|
NM_001329943.3(KIAA0586):c.4089G>C (p.Gln1363His)
|
rs2043350107
|
|
NM_001329943.3(KIAA0586):c.4096G>A (p.Val1366Ile)
|
rs2043350903
|
|
NM_001329943.3(KIAA0586):c.410+3A>G
|
|
|
NM_001329943.3(KIAA0586):c.411-1364A>G
|
|
|
NM_001329943.3(KIAA0586):c.411-1381C>T
|
rs749413114
|
|
NM_001329943.3(KIAA0586):c.411-1404G>A
|
|
|
NM_001329943.3(KIAA0586):c.411-1405T>C
|
|
|
NM_001329943.3(KIAA0586):c.411-1409C>T
|
rs2140521828
|
|
NM_001329943.3(KIAA0586):c.411-1427A>G
|
|
|
NM_001329943.3(KIAA0586):c.411-1431C>G
|
|
|
NM_001329943.3(KIAA0586):c.411-1448G>A
|
|
|
NM_001329943.3(KIAA0586):c.411-1494C>A
|
|
|
NM_001329943.3(KIAA0586):c.4111T>A (p.Ser1371Thr)
|
|
|
NM_001329943.3(KIAA0586):c.4148G>A (p.Arg1383Gln)
|
|
|
NM_001329943.3(KIAA0586):c.4156G>T (p.Asp1386Tyr)
|
rs2141310739
|
|
NM_001329943.3(KIAA0586):c.4168+5A>G
|
|
|
NM_001329943.3(KIAA0586):c.4168+6C>T
|
|
|
NM_001329943.3(KIAA0586):c.4205C>A (p.Pro1402Gln)
|
|
|
NM_001329943.3(KIAA0586):c.421A>G (p.Met141Val)
|
rs1164983892
|
|
NM_001329943.3(KIAA0586):c.4226A>G (p.Glu1409Gly)
|
rs2141430559
|
|
NM_001329943.3(KIAA0586):c.4227G>T (p.Glu1409Asp)
|
rs746899731
|
|
NM_001329943.3(KIAA0586):c.4231G>A (p.Glu1411Lys)
|
|
|
NM_001329943.3(KIAA0586):c.4241C>T (p.Ser1414Phe)
|
|
|
NM_001329943.3(KIAA0586):c.4249G>A (p.Val1417Ile)
|
rs1356513118
|
|
NM_001329943.3(KIAA0586):c.4286A>G (p.Asp1429Gly)
|
rs548063080
|
|
NM_001329943.3(KIAA0586):c.4306G>A (p.Ala1436Thr)
|
|
|
NM_001329943.3(KIAA0586):c.4316T>C (p.Phe1439Ser)
|
rs2141431422
|
|
NM_001329943.3(KIAA0586):c.4323+3A>G
|
|
|
NM_001329943.3(KIAA0586):c.4323+4C>T
|
rs2044176022
|
|
NM_001329943.3(KIAA0586):c.4323+5C>G
|
rs2141431529
|
|
NM_001329943.3(KIAA0586):c.4324-4T>G
|
rs1429230924
|
|
NM_001329943.3(KIAA0586):c.4345G>T (p.Asp1449Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.4346A>T (p.Asp1449Val)
|
rs2141479700
|
|
NM_001329943.3(KIAA0586):c.4352A>G (p.Lys1451Arg)
|
|
|
NM_001329943.3(KIAA0586):c.4363_4364delinsAT (p.His1455Ile)
|
rs2141479904
|
|
NM_001329943.3(KIAA0586):c.4365C>G (p.His1455Gln)
|
rs1051498929
|
|
NM_001329943.3(KIAA0586):c.4399A>C (p.Lys1467Gln)
|
|
|
NM_001329943.3(KIAA0586):c.4429+4A>G
|
rs1017273332
|
|
NM_001329943.3(KIAA0586):c.4435C>T (p.Pro1479Ser)
|
|
|
NM_001329943.3(KIAA0586):c.4444A>G (p.Met1482Val)
|
|
|
NM_001329943.3(KIAA0586):c.4446G>A (p.Met1482Ile)
|
|
|
NM_001329943.3(KIAA0586):c.444G>T (p.Lys148Asn)
|
|
|
NM_001329943.3(KIAA0586):c.4458A>T (p.Gln1486His)
|
rs2140098041
|
|
NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu)
|
rs370303493
|
|
NM_001329943.3(KIAA0586):c.4492T>A (p.Ser1498Thr)
|
|
|
NM_001329943.3(KIAA0586):c.4495+3762T>C
|
|
|
NM_001329943.3(KIAA0586):c.4495+3779A>G
|
rs968172462
|
|
NM_001329943.3(KIAA0586):c.4495+3779A>T
|
rs968172462
|
|
NM_001329943.3(KIAA0586):c.4495+3795_4495+3796inv
|
|
|
NM_001329943.3(KIAA0586):c.4495+3797T>C
|
|
|
NM_001329943.3(KIAA0586):c.4495+4A>G
|
|
|
NM_001329943.3(KIAA0586):c.4495+6A>G
|
|
|
NM_001329943.3(KIAA0586):c.4496-3814G>A
|
rs2140128786
|
|
NM_001329943.3(KIAA0586):c.4496G>T (p.Gly1499Val)
|
|
|
NM_001329943.3(KIAA0586):c.4506A>G (p.Ala1502=)
|
|
|
NM_001329943.3(KIAA0586):c.4515C>G (p.Leu1505=)
|
rs2140156234
|
|
NM_001329943.3(KIAA0586):c.4518C>T (p.Ser1506=)
|
|
|
NM_001329943.3(KIAA0586):c.4524A>G (p.Ser1508=)
|
|
|
NM_001329943.3(KIAA0586):c.4525C>G (p.Gln1509Glu)
|
|
|
NM_001329943.3(KIAA0586):c.4531C>A (p.Pro1511Thr)
|
rs2140156359
|
|
NM_001329943.3(KIAA0586):c.4539C>G (p.Ala1513=)
|
|
|
NM_001329943.3(KIAA0586):c.4564G>C (p.Val1522Leu)
|
|
|
NM_001329943.3(KIAA0586):c.4564G>T (p.Val1522Leu)
|
rs542432352
|
|
NM_001329943.3(KIAA0586):c.4575_4576delinsAC (p.Asp1526His)
|
rs2140156856
|
|
NM_001329943.3(KIAA0586):c.4585C>T (p.Gln1529Ter)
|
|
|
NM_001329943.3(KIAA0586):c.4590T>G (p.Ser1530=)
|
rs2140157005
|
|
NM_001329943.3(KIAA0586):c.4596T>C (p.Ser1532=)
|
|
|
NM_001329943.3(KIAA0586):c.4641C>T (p.Thr1547=)
|
rs1301341396
|
|
NM_001329943.3(KIAA0586):c.4641del (p.Phe1548fs)
|
|
|
NM_001329943.3(KIAA0586):c.4644C>G (p.Phe1548Leu)
|
|
|
NM_001329943.3(KIAA0586):c.479A>G (p.Asp160Gly)
|
|
|
NM_001329943.3(KIAA0586):c.480T>A (p.Asp160Glu)
|
rs1202184988
|
|
NM_001329943.3(KIAA0586):c.502A>G (p.Ile168Val)
|
|
|
NM_001329943.3(KIAA0586):c.508C>T (p.Pro170Ser)
|
|
|
NM_001329943.3(KIAA0586):c.524C>T (p.Ser175Leu)
|
|
|
NM_001329943.3(KIAA0586):c.575C>T (p.Pro192Leu)
|
rs748340175
|
|
NM_001329943.3(KIAA0586):c.585+10_585+11insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATATTTTT
|
|
|
NM_001329943.3(KIAA0586):c.586G>T (p.Val196Leu)
|
|
|
NM_001329943.3(KIAA0586):c.602A>G (p.Glu201Gly)
|
rs2038635110
|
|
NM_001329943.3(KIAA0586):c.605C>T (p.Ala202Val)
|
|
|
NM_001329943.3(KIAA0586):c.625G>C (p.Glu209Gln)
|
|
|
NM_001329943.3(KIAA0586):c.62T>A (p.Leu21His)
|
|
|
NM_001329943.3(KIAA0586):c.63_64delinsAA (p.Arg22Ser)
|
rs2140373651
|
|
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys)
|
rs202124602
|
|
NM_001329943.3(KIAA0586):c.655A>G (p.Lys219Glu)
|
rs1373940232
|
|
NM_001329943.3(KIAA0586):c.658C>T (p.His220Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.65G>C (p.Arg22Pro)
|
|
|
NM_001329943.3(KIAA0586):c.666A>G (p.Gln222=)
|
|
|
NM_001329943.3(KIAA0586):c.701A>G (p.Lys234Arg)
|
|
|
NM_001329943.3(KIAA0586):c.729C>G (p.His243Gln)
|
rs774888789
|
|
NM_001329943.3(KIAA0586):c.745G>A (p.Val249Met)
|
rs2140567428
|
|
NM_001329943.3(KIAA0586):c.768G>T (p.Arg256Ser)
|
|
|
NM_001329943.3(KIAA0586):c.784CAA[3] (p.Gln265del)
|
rs1290912165
|
|
NM_001329943.3(KIAA0586):c.792A>T (p.Gln264His)
|
rs2140568101
|
|
NM_001329943.3(KIAA0586):c.811C>A (p.His271Asn)
|
|
|
NM_001329943.3(KIAA0586):c.811C>T (p.His271Tyr)
|
rs1417240682
|
|
NM_001329943.3(KIAA0586):c.815T>G (p.Phe272Cys)
|
rs2039078597
|
|
NM_001329943.3(KIAA0586):c.82A>C (p.Asn28His)
|
|
|
NM_001329943.3(KIAA0586):c.832A>G (p.Lys278Glu)
|
rs769369839
|
|
NM_001329943.3(KIAA0586):c.835A>C (p.Thr279Pro)
|
|
|
NM_001329943.3(KIAA0586):c.839G>C (p.Ser280Thr)
|
rs2039080763
|
|
NM_001329943.3(KIAA0586):c.853G>C (p.Val285Leu)
|
|
|
NM_001329943.3(KIAA0586):c.857G>A (p.Ser286Asn)
|
|
|
NM_001329943.3(KIAA0586):c.859A>C (p.Met287Leu)
|
rs2140662489
|
|
NM_001329943.3(KIAA0586):c.85C>T (p.His29Tyr)
|
|
|
NM_001329943.3(KIAA0586):c.869C>G (p.Ser290Cys)
|
|
|
NM_001329943.3(KIAA0586):c.86A>G (p.His29Arg)
|
|
|
NM_001329943.3(KIAA0586):c.913C>T (p.Leu305Phe)
|
|
|
NM_001329943.3(KIAA0586):c.919A>G (p.Ser307Gly)
|
rs2140663692
|
|
NM_001329943.3(KIAA0586):c.953C>T (p.Ser318Phe)
|
rs2140664162
|
|
NM_001329943.3(KIAA0586):c.961+6_961+7del
|
rs1308763926
|
|
NM_001329943.3(KIAA0586):c.962-3A>C
|
|
|
NM_001329943.3(KIAA0586):c.976G>A (p.Val326Ile)
|
rs1317366636
|
|
NM_001329943.3(KIAA0586):c.983A>T (p.Asp328Val)
|
rs780810159
|
|
NM_001364171.2(ODAD1):c.1001A>G (p.Asn334Ser)
|
|
|
NM_001364171.2(ODAD1):c.1072-7C>T
|
|
|
NM_001364171.2(ODAD1):c.1100C>T (p.Ala367Val)
|
rs2147315341
|
|
NM_001364171.2(ODAD1):c.1128G>C (p.Gln376His)
|
rs746231311
|
|
NM_001364171.2(ODAD1):c.1148T>C (p.Leu383Ser)
|
rs1968503578
|
|
NM_001364171.2(ODAD1):c.1171C>T (p.His391Tyr)
|
rs559542917
|
|
NM_001364171.2(ODAD1):c.1186C>G (p.Arg396Gly)
|
|
|
NM_001364171.2(ODAD1):c.1186C>T (p.Arg396Cys)
|
rs373501045
|
|
NM_001364171.2(ODAD1):c.1187G>T (p.Arg396Leu)
|
|
|
NM_001364171.2(ODAD1):c.1195G>T (p.Ala399Ser)
|
|
|
NM_001364171.2(ODAD1):c.119G>C (p.Gly40Ala)
|
rs2147337064
|
|
NM_001364171.2(ODAD1):c.122A>C (p.Glu41Ala)
|
|
|
NM_001364171.2(ODAD1):c.1237G>T (p.Ala413Ser)
|
|
|
NM_001364171.2(ODAD1):c.1256T>G (p.Phe419Cys)
|
|
|
NM_001364171.2(ODAD1):c.1322A>G (p.Asp441Gly)
|
|
|
NM_001364171.2(ODAD1):c.1325G>A (p.Arg442Gln)
|
|
|
NM_001364171.2(ODAD1):c.1473G>T (p.Lys491Asn)
|
rs978861683
|
|
NM_001364171.2(ODAD1):c.1475T>G (p.Met492Arg)
|
rs1555879279
|
|
NM_001364171.2(ODAD1):c.1489C>T (p.Pro497Ser)
|
|
|
NM_001364171.2(ODAD1):c.1509C>A (p.Asp503Glu)
|
|
|
NM_001364171.2(ODAD1):c.1531G>A (p.Asp511Asn)
|
|
|
NM_001364171.2(ODAD1):c.1542del (p.Pro514_Met515insTer)
|
|
|
NM_001364171.2(ODAD1):c.1547G>A (p.Ser516Asn)
|
|
|
NM_001364171.2(ODAD1):c.155G>A (p.Arg52His)
|
|
|
NM_001364171.2(ODAD1):c.1579C>A (p.Leu527Met)
|
|
|
NM_001364171.2(ODAD1):c.1612C>T (p.Arg538Cys)
|
|
|
NM_001364171.2(ODAD1):c.161A>G (p.Asn54Ser)
|
rs968311018
|
|
NM_001364171.2(ODAD1):c.1629CGC[3] (p.Ala547del)
|
|
|
NM_001364171.2(ODAD1):c.1629CGC[6] (p.Ala546_Ala547dup)
|
rs761748771
|
|
NM_001364171.2(ODAD1):c.1702G>C (p.Val568Leu)
|
|
|
NM_001364171.2(ODAD1):c.1708G>A (p.Val570Met)
|
rs1968323305
|
|
NM_001364171.2(ODAD1):c.182G>C (p.Arg61Pro)
|
|
|
NM_001364171.2(ODAD1):c.1841C>T (p.Thr614Met)
|
|
|
NM_001364171.2(ODAD1):c.1844A>G (p.His615Arg)
|
|
|
NM_001364171.2(ODAD1):c.1876G>A (p.Gly626Ser)
|
|
|
NM_001364171.2(ODAD1):c.1880C>T (p.Ser627Phe)
|
|
|
NM_001364171.2(ODAD1):c.1892C>T (p.Ser631Leu)
|
rs143219618
|
|
NM_001364171.2(ODAD1):c.1970G>A (p.Arg657Lys)
|
rs1968309990
|
|
NM_001364171.2(ODAD1):c.1973del (p.Gly658fs)
|
rs769187045
|
|
NM_001364171.2(ODAD1):c.1989G>T (p.Glu663Asp)
|
rs1600854444
|
|
NM_001364171.2(ODAD1):c.200G>A (p.Arg67Gln)
|
|
|
NM_001364171.2(ODAD1):c.2011_2034del (p.Thr671_Gly678del)
|
|
|
NM_001364171.2(ODAD1):c.2028C>A (p.Ser676Arg)
|
rs146521880
|
|
NM_001364171.2(ODAD1):c.2029_2046dup (p.Gly677_Ser682dup)
|
rs772407409
|
|
NM_001364171.2(ODAD1):c.205G>A (p.Asp69Asn)
|
|
|
NM_001364171.2(ODAD1):c.2067_2084dup (p.Ala692_Pro697dup)
|
rs755466284
|
|
NM_001364171.2(ODAD1):c.2073_2090del (p.Ala692_Pro697del)
|
rs1387748974
|
|
NM_001364171.2(ODAD1):c.2090C>T (p.Pro697Leu)
|
|
|
NM_001364171.2(ODAD1):c.2099_2102delinsACA (p.Ser700fs)
|
rs1569000186
|
|
NM_001364171.2(ODAD1):c.2105G>C (p.Ser702Thr)
|
|
|
NM_001364171.2(ODAD1):c.253C>T (p.Arg85Trp)
|
rs746996781
|
|
NM_001364171.2(ODAD1):c.266G>A (p.Arg89Gln)
|
rs58966182
|
|
NM_001364171.2(ODAD1):c.284G>C (p.Arg95Pro)
|
rs1002779676
|
|
NM_001364171.2(ODAD1):c.298C>T (p.Arg100Trp)
|
|
|
NM_001364171.2(ODAD1):c.299G>A (p.Arg100Gln)
|
|
|
NM_001364171.2(ODAD1):c.314C>A (p.Ala105Glu)
|
|
|
NM_001364171.2(ODAD1):c.338A>C (p.Gln113Pro)
|
|
|
NM_001364171.2(ODAD1):c.346G>C (p.Ala116Pro)
|
rs1060500991
|
|
NM_001364171.2(ODAD1):c.388A>G (p.Thr130Ala)
|
|
|
NM_001364171.2(ODAD1):c.395G>C (p.Ser132Thr)
|
rs1443442774
|
|
NM_001364171.2(ODAD1):c.497T>C (p.Phe166Ser)
|
|
|
NM_001364171.2(ODAD1):c.498_499insCGT (p.Phe166_Asp167insArg)
|
rs779459076
|
|
NM_001364171.2(ODAD1):c.514C>G (p.Arg172Gly)
|
rs556570604
|
|
NM_001364171.2(ODAD1):c.515G>A (p.Arg172Gln)
|
rs369531391
|
|
NM_001364171.2(ODAD1):c.556G>A (p.Asp186Asn)
|
rs372015636
|
|
NM_001364171.2(ODAD1):c.572T>C (p.Leu191Pro)
|
|
|
NM_001364171.2(ODAD1):c.608A>C (p.His203Pro)
|
rs1569006344
|
|
NM_001364171.2(ODAD1):c.629C>G (p.Thr210Ser)
|
rs1600864322
|
|
NM_001364171.2(ODAD1):c.634A>G (p.Ile212Val)
|
|
|
NM_001364171.2(ODAD1):c.716AGG[1] (p.Glu240del)
|
rs760854519
|
|
NM_001364171.2(ODAD1):c.721G>T (p.Ala241Ser)
|
rs1259985148
|
|
NM_001364171.2(ODAD1):c.734T>C (p.Met245Thr)
|
|
|
NM_001364171.2(ODAD1):c.746T>C (p.Val249Ala)
|
rs1192630734
|
|
NM_001364171.2(ODAD1):c.806A>G (p.Asn269Ser)
|
rs2147317437
|
|
NM_001364171.2(ODAD1):c.842G>A (p.Arg281His)
|
|
|
NM_001364171.2(ODAD1):c.943A>G (p.Met315Val)
|
|
|
NM_001364171.2(ODAD1):c.956A>G (p.Asp319Gly)
|
|
|
NM_001364171.2(ODAD1):c.997C>T (p.Arg333Cys)
|
rs147626899
|
|
NM_001369.3(DNAH5):c.10076C>T (p.Ala3359Val)
|
rs1752464443
|
|
NM_001369.3(DNAH5):c.1013C>G (p.Thr338Ser)
|
rs1390111024
|
|
NM_001369.3(DNAH5):c.1022C>T (p.Ala341Val)
|
rs1776738425
|
|
NM_001369.3(DNAH5):c.10286A>G (p.Asn3429Ser)
|
rs1580095416
|
|
NM_001369.3(DNAH5):c.10381G>A (p.Val3461Met)
|
|
|
NM_001369.3(DNAH5):c.10415A>G (p.Lys3472Arg)
|
rs1057517890
|
|
NM_001369.3(DNAH5):c.10420-3T>C
|
rs1172050367
|
|
NM_001369.3(DNAH5):c.10436C>A (p.Ala3479Glu)
|
|
|
NM_001369.3(DNAH5):c.10558G>T (p.Asp3520Tyr)
|
rs766829989
|
|
NM_001369.3(DNAH5):c.10559A>T (p.Asp3520Val)
|
|
|
NM_001369.3(DNAH5):c.10565T>G (p.Leu3522Arg)
|
|
|
NM_001369.3(DNAH5):c.10619A>C (p.Asp3540Ala)
|
rs1580068395
|
|
NM_001369.3(DNAH5):c.10681C>G (p.Leu3561Val)
|
|
|
NM_001369.3(DNAH5):c.10690A>C (p.Ser3564Arg)
|
rs2126701456
|
|
NM_001369.3(DNAH5):c.10703T>C (p.Ile3568Thr)
|
|
|
NM_001369.3(DNAH5):c.10706A>G (p.Asp3569Gly)
|
|
|
NM_001369.3(DNAH5):c.10712CTA[1] (p.Thr3572del)
|
rs773869600
|
|
NM_001369.3(DNAH5):c.10784C>A (p.Thr3595Lys)
|
|
|
NM_001369.3(DNAH5):c.10789G>C (p.Ala3597Pro)
|
rs368959723
|
|
NM_001369.3(DNAH5):c.10839G>C (p.Trp3613Cys)
|
rs1750508726
|
|
NM_001369.3(DNAH5):c.10859G>T (p.Arg3620Leu)
|
rs547014532
|
|
NM_001369.3(DNAH5):c.10886A>C (p.Asn3629Thr)
|
rs2126695378
|
|
NM_001369.3(DNAH5):c.10888C>T (p.His3630Tyr)
|
rs1750346300
|
|
NM_001369.3(DNAH5):c.1089C>T (p.Pro363=)
|
|
|
NM_001369.3(DNAH5):c.10937C>A (p.Pro3646His)
|
|
|
NM_001369.3(DNAH5):c.10973C>T (p.Pro3658Leu)
|
|
|
NM_001369.3(DNAH5):c.11015G>A (p.Gly3672Glu)
|
|
|
NM_001369.3(DNAH5):c.11057T>A (p.Val3686Glu)
|
rs1750176019
|
|
NM_001369.3(DNAH5):c.11057T>C (p.Val3686Ala)
|
rs1750176019
|
|
NM_001369.3(DNAH5):c.11063A>G (p.Asp3688Gly)
|
rs878854454
|
|
NM_001369.3(DNAH5):c.11072G>C (p.Arg3691Thr)
|
|
|
NM_001369.3(DNAH5):c.11078A>G (p.Tyr3693Cys)
|
|
|
NM_001369.3(DNAH5):c.11087C>T (p.Thr3696Ile)
|
|
|
NM_001369.3(DNAH5):c.11167C>G (p.Leu3723Val)
|
rs2126689104
|
|
NM_001369.3(DNAH5):c.11189G>C (p.Arg3730Thr)
|
|
|
NM_001369.3(DNAH5):c.11212-4A>G
|
rs1554028140
|
|
NM_001369.3(DNAH5):c.11248G>A (p.Val3750Ile)
|
|
|
NM_001369.3(DNAH5):c.11299C>T (p.Arg3767Cys)
|
|
|
NM_001369.3(DNAH5):c.11305A>G (p.Thr3769Ala)
|
rs1747678431
|
|
NM_001369.3(DNAH5):c.11308A>G (p.Ser3770Gly)
|
rs1747677646
|
|
NM_001369.3(DNAH5):c.11357G>A (p.Ser3786Asn)
|
|
|
NM_001369.3(DNAH5):c.11357G>C (p.Ser3786Thr)
|
rs777928542
|
|
NM_001369.3(DNAH5):c.11462C>G (p.Thr3821Arg)
|
rs374858945
|
|
NM_001369.3(DNAH5):c.11464C>T (p.Arg3822Trp)
|
|
|
NM_001369.3(DNAH5):c.11500C>T (p.Arg3834Cys)
|
rs1579972564
|
|
NM_001369.3(DNAH5):c.11534G>A (p.Arg3845His)
|
|
|
NM_001369.3(DNAH5):c.11585C>G (p.Pro3862Arg)
|
rs763954304
|
|
NM_001369.3(DNAH5):c.11632G>A (p.Glu3878Lys)
|
|
|
NM_001369.3(DNAH5):c.1171G>A (p.Glu391Lys)
|
|
|
NM_001369.3(DNAH5):c.11753T>C (p.Leu3918Pro)
|
rs2126606502
|
|
NM_001369.3(DNAH5):c.11794C>A (p.Pro3932Thr)
|
rs1746210228
|
|
NM_001369.3(DNAH5):c.11870A>G (p.Asp3957Gly)
|
|
|
NM_001369.3(DNAH5):c.11932C>T (p.Pro3978Ser)
|
|
|
NM_001369.3(DNAH5):c.11938G>A (p.Glu3980Lys)
|
rs1221618846
|
|
NM_001369.3(DNAH5):c.12004T>A (p.Ser4002Thr)
|
|
|
NM_001369.3(DNAH5):c.12038G>A (p.Arg4013His)
|
|
|
NM_001369.3(DNAH5):c.12044A>C (p.Tyr4015Ser)
|
rs1060501463
|
|
NM_001369.3(DNAH5):c.1206T>G (p.Asn402Lys)
|
|
|
NM_001369.3(DNAH5):c.1216T>G (p.Ser406Ala)
|
rs1776422779
|
|
NM_001369.3(DNAH5):c.12179T>C (p.Ile4060Thr)
|
|
|
NM_001369.3(DNAH5):c.12197T>C (p.Leu4066Ser)
|
|
|
NM_001369.3(DNAH5):c.12248C>A (p.Ala4083Asp)
|
rs1201132518
|
|
NM_001369.3(DNAH5):c.12279+6G>C
|
rs762179184
|
|
NM_001369.3(DNAH5):c.12326T>C (p.Met4109Thr)
|
rs1744695650
|
|
NM_001369.3(DNAH5):c.1234A>G (p.Ile412Val)
|
rs1580867247
|
|
NM_001369.3(DNAH5):c.12355A>G (p.Thr4119Ala)
|
|
|
NM_001369.3(DNAH5):c.12373G>C (p.Ala4125Pro)
|
rs757737381
|
|
NM_001369.3(DNAH5):c.12379C>A (p.Arg4127Ser)
|
rs148696723
|
|
NM_001369.3(DNAH5):c.12404A>G (p.His4135Arg)
|
|
|
NM_001369.3(DNAH5):c.12414T>A (p.Phe4138Leu)
|
|
|
NM_001369.3(DNAH5):c.1246G>A (p.Gly416Arg)
|
|
|
NM_001369.3(DNAH5):c.12500-14A>G
|
rs2126510171
|
|
NM_001369.3(DNAH5):c.12521A>G (p.Asp4174Gly)
|
rs1554020311
|
|
NM_001369.3(DNAH5):c.12557A>G (p.Tyr4186Cys)
|
rs368413636
|
|
NM_001369.3(DNAH5):c.12572T>C (p.Leu4191Pro)
|
rs1312032248
|
|
NM_001369.3(DNAH5):c.12587A>G (p.Gln4196Arg)
|
|
|
NM_001369.3(DNAH5):c.12601T>C (p.Phe4201Leu)
|
|
|
NM_001369.3(DNAH5):c.12646G>A (p.Asp4216Asn)
|
|
|
NM_001369.3(DNAH5):c.12708_12709inv (p.Val4237Ile)
|
|
|
NM_001369.3(DNAH5):c.12785G>A (p.Arg4262Lys)
|
rs1744308032
|
|
NM_001369.3(DNAH5):c.1282G>A (p.Val428Ile)
|
|
|
NM_001369.3(DNAH5):c.12851A>G (p.Tyr4284Cys)
|
|
|
NM_001369.3(DNAH5):c.12906C>G (p.Ile4302Met)
|
|
|
NM_001369.3(DNAH5):c.12907C>G (p.Gln4303Glu)
|
|
|
NM_001369.3(DNAH5):c.12934G>A (p.Glu4312Lys)
|
|
|
NM_001369.3(DNAH5):c.13013G>C (p.Gly4338Ala)
|
rs1744030966
|
|
NM_001369.3(DNAH5):c.13015A>C (p.Ile4339Leu)
|
|
|
NM_001369.3(DNAH5):c.13037G>T (p.Gly4346Val)
|
rs371027404
|
|
NM_001369.3(DNAH5):c.13112A>G (p.Tyr4371Cys)
|
|
|
NM_001369.3(DNAH5):c.13180A>G (p.Arg4394Gly)
|
rs1446970822
|
|
NM_001369.3(DNAH5):c.13199T>C (p.Met4400Thr)
|
|
|
NM_001369.3(DNAH5):c.1319A>G (p.Gln440Arg)
|
rs2151982078
|
|
NM_001369.3(DNAH5):c.13231C>G (p.Leu4411Val)
|
rs941923241
|
|
NM_001369.3(DNAH5):c.13232T>C (p.Leu4411Pro)
|
|
|
NM_001369.3(DNAH5):c.13266C>G (p.Ile4422Met)
|
rs1561084758
|
|
NM_001369.3(DNAH5):c.1331T>C (p.Leu444Pro)
|
|
|
NM_001369.3(DNAH5):c.13331G>T (p.Trp4444Leu)
|
rs1060501467
|
|
NM_001369.3(DNAH5):c.1339C>T (p.His447Tyr)
|
|
|
NM_001369.3(DNAH5):c.13405A>G (p.Thr4469Ala)
|
|
|
NM_001369.3(DNAH5):c.13481C>A (p.Ala4494Glu)
|
|
|
NM_001369.3(DNAH5):c.13543A>G (p.Asn4515Asp)
|
|
|
NM_001369.3(DNAH5):c.13593_13594delinsAT (p.Gly4532Cys)
|
|
|
NM_001369.3(DNAH5):c.13609G>T (p.Gly4537Cys)
|
rs1741988812
|
|
NM_001369.3(DNAH5):c.13628C>T (p.Ala4543Val)
|
rs2126404399
|
|
NM_001369.3(DNAH5):c.13714G>A (p.Glu4572Lys)
|
rs768846678
|
|
NM_001369.3(DNAH5):c.13753C>T (p.Pro4585Ser)
|
|
|
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys)
|
rs1320036244
|
|
NM_001369.3(DNAH5):c.13775G>C (p.Arg4592Pro)
|
rs367709427
|
|
NM_001369.3(DNAH5):c.13825C>G (p.Pro4609Ala)
|
|
|
NM_001369.3(DNAH5):c.13849G>T (p.Val4617Phe)
|
|
|
NM_001369.3(DNAH5):c.13862G>A (p.Cys4621Tyr)
|
rs1554012799
|
|
NM_001369.3(DNAH5):c.13862G>C (p.Cys4621Ser)
|
|
|
NM_001369.3(DNAH5):c.1438C>T (p.Leu480Phe)
|
rs1580863552
|
|
NM_001369.3(DNAH5):c.1463C>G (p.Thr488Arg)
|
|
|
NM_001369.3(DNAH5):c.1466C>T (p.Thr489Ile)
|
rs764562876
|
|
NM_001369.3(DNAH5):c.1522G>A (p.Ala508Thr)
|
|
|
NM_001369.3(DNAH5):c.1528A>G (p.Lys510Glu)
|
|
|
NM_001369.3(DNAH5):c.1536G>A (p.Gln512=)
|
rs541266118
|
|
NM_001369.3(DNAH5):c.1639C>T (p.Leu547Phe)
|
rs1775975227
|
|
NM_001369.3(DNAH5):c.1643A>C (p.His548Pro)
|
|
|
NM_001369.3(DNAH5):c.1645-8T>G
|
rs2151964175
|
|
NM_001369.3(DNAH5):c.1683G>C (p.Lys561Asn)
|
|
|
NM_001369.3(DNAH5):c.1792G>A (p.Ala598Thr)
|
rs863224706
|
|
NM_001369.3(DNAH5):c.1799T>C (p.Ile600Thr)
|
|
|
NM_001369.3(DNAH5):c.1828C>G (p.Gln610Glu)
|
|
|
NM_001369.3(DNAH5):c.1891C>T (p.Arg631Cys)
|
|
|
NM_001369.3(DNAH5):c.1896G>C (p.Gln632His)
|
|
|
NM_001369.3(DNAH5):c.1900T>C (p.Phe634Leu)
|
rs1580809647
|
|
NM_001369.3(DNAH5):c.192+5G>A
|
|
|
NM_001369.3(DNAH5):c.193-3C>A
|
|
|
NM_001369.3(DNAH5):c.2004G>C (p.Lys668Asn)
|
rs1226480889
|
|
NM_001369.3(DNAH5):c.2052+3G>C
|
|
|
NM_001369.3(DNAH5):c.2054T>C (p.Ile685Thr)
|
|
|
NM_001369.3(DNAH5):c.2071G>A (p.Gly691Ser)
|
rs866977828
|
|
NM_001369.3(DNAH5):c.2072G>A (p.Gly691Asp)
|
|
|
NM_001369.3(DNAH5):c.2098G>C (p.Ala700Pro)
|
|
|
NM_001369.3(DNAH5):c.2104G>C (p.Gly702Arg)
|
|
|
NM_001369.3(DNAH5):c.2119T>C (p.Phe707Leu)
|
rs956123437
|
|
NM_001369.3(DNAH5):c.220G>A (p.Val74Ile)
|
|
|
NM_001369.3(DNAH5):c.2298A>G (p.Ile766Met)
|
|
|
NM_001369.3(DNAH5):c.2311G>A (p.Glu771Lys)
|
rs1216239202
|
|
NM_001369.3(DNAH5):c.2339A>C (p.Lys780Thr)
|
rs1773692803
|
|
NM_001369.3(DNAH5):c.2380T>C (p.Trp794Arg)
|
|
|
NM_001369.3(DNAH5):c.2382G>T (p.Trp794Cys)
|
rs2151953467
|
|
NM_001369.3(DNAH5):c.2461A>G (p.Asn821Asp)
|
|
|
NM_001369.3(DNAH5):c.2479C>A (p.Arg827Ser)
|
rs760986984
|
|
NM_001369.3(DNAH5):c.2479C>T (p.Arg827Cys)
|
|
|
NM_001369.3(DNAH5):c.2536G>A (p.Glu846Lys)
|
rs1773148161
|
|
NM_001369.3(DNAH5):c.2577+5T>G
|
rs201596289
|
|
NM_001369.3(DNAH5):c.2578G>A (p.Asp860Asn)
|
|
|
NM_001369.3(DNAH5):c.259G>A (p.Val87Met)
|
rs1778067241
|
|
NM_001369.3(DNAH5):c.2648T>C (p.Leu883Pro)
|
rs2151943048
|
|
NM_001369.3(DNAH5):c.2700A>C (p.Lys900Asn)
|
|
|
NM_001369.3(DNAH5):c.2719G>A (p.Val907Ile)
|
rs1772373275
|
|
NM_001369.3(DNAH5):c.2723A>G (p.Asn908Ser)
|
|
|
NM_001369.3(DNAH5):c.2743+3A>T
|
rs752170130
|
|
NM_001369.3(DNAH5):c.2753AAG[1] (p.Glu919del)
|
rs762827509
|
|
NM_001369.3(DNAH5):c.275C>G (p.Thr92Arg)
|
rs765566079
|
|
NM_001369.3(DNAH5):c.2804C>T (p.Ala935Val)
|
rs1457781570
|
|
NM_001369.3(DNAH5):c.2869G>A (p.Glu957Lys)
|
|
|
NM_001369.3(DNAH5):c.2899A>C (p.Met967Leu)
|
|
|
NM_001369.3(DNAH5):c.2939C>A (p.Ala980Asp)
|
rs2151941469
|
|
NM_001369.3(DNAH5):c.2953A>G (p.Ile985Val)
|
rs377668816
|
|
NM_001369.3(DNAH5):c.2995G>T (p.Ala999Ser)
|
|
|
NM_001369.3(DNAH5):c.3003C>A (p.Asn1001Lys)
|
rs752944631
|
|
NM_001369.3(DNAH5):c.3025A>C (p.Ile1009Leu)
|
|
|
NM_001369.3(DNAH5):c.3032G>A (p.Arg1011Gln)
|
|
|
NM_001369.3(DNAH5):c.3050C>T (p.Ala1017Val)
|
rs2151938659
|
|
NM_001369.3(DNAH5):c.3127A>G (p.Ser1043Gly)
|
rs1771881510
|
|
NM_001369.3(DNAH5):c.3181A>C (p.Ile1061Leu)
|
|
|
NM_001369.3(DNAH5):c.3181A>G (p.Ile1061Val)
|
|
|
NM_001369.3(DNAH5):c.3190A>G (p.Arg1064Gly)
|
|
|
NM_001369.3(DNAH5):c.3212G>A (p.Ser1071Asn)
|
rs2151938135
|
|
NM_001369.3(DNAH5):c.3316TAT[1] (p.Tyr1107del)
|
|
|
NM_001369.3(DNAH5):c.3322A>G (p.Lys1108Glu)
|
|
|
NM_001369.3(DNAH5):c.3383A>G (p.Asn1128Ser)
|
|
|
NM_001369.3(DNAH5):c.3476T>G (p.Phe1159Cys)
|
rs375100071
|
|
NM_001369.3(DNAH5):c.3491C>T (p.Pro1164Leu)
|
rs878854456
|
|
NM_001369.3(DNAH5):c.3538G>A (p.Glu1180Lys)
|
rs1561477933
|
|
NM_001369.3(DNAH5):c.3559C>G (p.Pro1187Ala)
|
|
|
NM_001369.3(DNAH5):c.3595A>C (p.Thr1199Pro)
|
rs1770106766
|
|
NM_001369.3(DNAH5):c.3649A>G (p.Ile1217Val)
|
|
|
NM_001369.3(DNAH5):c.3669A>T (p.Lys1223Asn)
|
|
|
NM_001369.3(DNAH5):c.3671A>G (p.Lys1224Arg)
|
rs1561476005
|
|
NM_001369.3(DNAH5):c.3677G>A (p.Arg1226Gln)
|
rs781418120
|
|
NM_001369.3(DNAH5):c.3725A>G (p.Lys1242Arg)
|
rs1769995434
|
|
NM_001369.3(DNAH5):c.3727C>G (p.Leu1243Val)
|
rs2151918770
|
|
NM_001369.3(DNAH5):c.3767C>T (p.Ala1256Val)
|
|
|
NM_001369.3(DNAH5):c.3795G>C (p.Glu1265Asp)
|
|
|
NM_001369.3(DNAH5):c.3837A>T (p.Glu1279Asp)
|
|
|
NM_001369.3(DNAH5):c.3935G>A (p.Arg1312His)
|
|
|
NM_001369.3(DNAH5):c.3965C>T (p.Ser1322Leu)
|
|
|
NM_001369.3(DNAH5):c.401A>G (p.Asp134Gly)
|
|
|
NM_001369.3(DNAH5):c.4025G>T (p.Cys1342Phe)
|
|
|
NM_001369.3(DNAH5):c.4108A>G (p.Met1370Val)
|
|
|
NM_001369.3(DNAH5):c.4113T>G (p.Phe1371Leu)
|
rs1561465310
|
|
NM_001369.3(DNAH5):c.4145A>G (p.Tyr1382Cys)
|
rs183833827
|
|
NM_001369.3(DNAH5):c.4208T>C (p.Leu1403Pro)
|
|
|
NM_001369.3(DNAH5):c.4244T>C (p.Ile1415Thr)
|
|
|
NM_001369.3(DNAH5):c.4355+6A>C
|
|
|
NM_001369.3(DNAH5):c.4356-15G>A
|
|
|
NM_001369.3(DNAH5):c.4370C>T (p.Pro1457Leu)
|
rs1308493849
|
|
NM_001369.3(DNAH5):c.4373_4374delinsAT (p.Arg1458His)
|
rs1768954926
|
|
NM_001369.3(DNAH5):c.438+5G>C
|
rs776343117
|
|
NM_001369.3(DNAH5):c.438+6G>A
|
rs2151997008
|
|
NM_001369.3(DNAH5):c.438+6G>C
|
|
|
NM_001369.3(DNAH5):c.439-3C>T
|
|
|
NM_001369.3(DNAH5):c.441G>C (p.Glu147Asp)
|
rs200732050
|
|
NM_001369.3(DNAH5):c.4431C>A (p.Ser1477Arg)
|
|
|
NM_001369.3(DNAH5):c.4469C>T (p.Ala1490Val)
|
rs1768942005
|
|
NM_001369.3(DNAH5):c.4505T>A (p.Leu1502His)
|
|
|
NM_001369.3(DNAH5):c.4546T>G (p.Leu1516Val)
|
rs1768927489
|
|
NM_001369.3(DNAH5):c.4559T>C (p.Met1520Thr)
|
rs916516633
|
|
NM_001369.3(DNAH5):c.4589A>G (p.Glu1530Gly)
|
|
|
NM_001369.3(DNAH5):c.4669A>G (p.Asn1557Asp)
|
rs767321919
|
|
NM_001369.3(DNAH5):c.4748C>A (p.Ala1583Asp)
|
|
|
NM_001369.3(DNAH5):c.4753A>G (p.Met1585Val)
|
rs1580641242
|
|
NM_001369.3(DNAH5):c.4761C>G (p.Asp1587Glu)
|
|
|
NM_001369.3(DNAH5):c.4797-13T>G
|
|
|
NM_001369.3(DNAH5):c.4802A>G (p.Asn1601Ser)
|
|
|
NM_001369.3(DNAH5):c.4805T>C (p.Met1602Thr)
|
rs767821520
|
|
NM_001369.3(DNAH5):c.4916T>C (p.Phe1639Ser)
|
rs1768079158
|
|
NM_001369.3(DNAH5):c.4950G>A (p.Lys1650=)
|
rs1768073068
|
|
NM_001369.3(DNAH5):c.5024T>C (p.Val1675Ala)
|
rs2151883811
|
|
NM_001369.3(DNAH5):c.5104_5106dup (p.Ser1702_Leu1703insSer)
|
|
|
NM_001369.3(DNAH5):c.5111C>A (p.Thr1704Asn)
|
rs1427029408
|
|
NM_001369.3(DNAH5):c.5130A>C (p.Lys1710Asn)
|
|
|
NM_001369.3(DNAH5):c.5195C>T (p.Ala1732Val)
|
|
|
NM_001369.3(DNAH5):c.5206C>A (p.His1736Asn)
|
|
|
NM_001369.3(DNAH5):c.5212A>G (p.Ile1738Val)
|
|
|
NM_001369.3(DNAH5):c.5219C>T (p.Ala1740Val)
|
rs1554074458
|
|
NM_001369.3(DNAH5):c.5245A>G (p.Ile1749Val)
|
rs1423005409
|
|
NM_001369.3(DNAH5):c.5246T>G (p.Ile1749Ser)
|
|
|
NM_001369.3(DNAH5):c.5252C>A (p.Ser1751Tyr)
|
rs2151870055
|
|
NM_001369.3(DNAH5):c.5262C>G (p.Phe1754Leu)
|
rs1765751014
|
|
NM_001369.3(DNAH5):c.5271+5G>A
|
rs749394641
|
|
NM_001369.3(DNAH5):c.5271G>T (p.Lys1757Asn)
|
rs1293906490
|
|
NM_001369.3(DNAH5):c.5332C>G (p.Pro1778Ala)
|
rs1765209467
|
|
NM_001369.3(DNAH5):c.5338A>T (p.Met1780Leu)
|
rs369482173
|
|
NM_001369.3(DNAH5):c.5392T>C (p.Ser1798Pro)
|
rs1060501468
|
|
NM_001369.3(DNAH5):c.5399T>C (p.Leu1800Ser)
|
rs1580524265
|
|
NM_001369.3(DNAH5):c.5439A>T (p.Glu1813Asp)
|
rs754274080
|
|
NM_001369.3(DNAH5):c.5509A>C (p.Ile1837Leu)
|
rs2151860552
|
|
NM_001369.3(DNAH5):c.5515A>G (p.Thr1839Ala)
|
|
|
NM_001369.3(DNAH5):c.5519G>A (p.Arg1840Gln)
|
|
|
NM_001369.3(DNAH5):c.5553T>G (p.Phe1851Leu)
|
|
|
NM_001369.3(DNAH5):c.556C>A (p.Leu186Ile)
|
rs1554104341
|
|
NM_001369.3(DNAH5):c.5606C>T (p.Thr1869Ile)
|
|
|
NM_001369.3(DNAH5):c.561G>C (p.Glu187Asp)
|
|
|
NM_001369.3(DNAH5):c.5660A>G (p.Glu1887Gly)
|
|
|
NM_001369.3(DNAH5):c.566T>C (p.Leu189Pro)
|
rs1777384254
|
|
NM_001369.3(DNAH5):c.5710T>C (p.Cys1904Arg)
|
|
|
NM_001369.3(DNAH5):c.5729G>A (p.Ser1910Asn)
|
|
|
NM_001369.3(DNAH5):c.5745G>T (p.Glu1915Asp)
|
|
|
NM_001369.3(DNAH5):c.5785G>C (p.Asp1929His)
|
rs1554072085
|
|
NM_001369.3(DNAH5):c.5790GAT[2] (p.Met1932del)
|
|
|
NM_001369.3(DNAH5):c.5816C>T (p.Ala1939Val)
|
|
|
NM_001369.3(DNAH5):c.5821A>G (p.Ile1941Val)
|
rs754033261
|
|
NM_001369.3(DNAH5):c.5846G>A (p.Cys1949Tyr)
|
|
|
NM_001369.3(DNAH5):c.5885G>A (p.Cys1962Tyr)
|
|
|
NM_001369.3(DNAH5):c.5918G>A (p.Ser1973Asn)
|
|
|
NM_001369.3(DNAH5):c.5989C>T (p.Leu1997Phe)
|
|
|
NM_001369.3(DNAH5):c.599T>G (p.Leu200Trp)
|
|
|
NM_001369.3(DNAH5):c.6001G>T (p.Val2001Phe)
|
|
|
NM_001369.3(DNAH5):c.6014A>G (p.Asn2005Ser)
|
rs1375968864
|
|
NM_001369.3(DNAH5):c.6044T>C (p.Leu2015Pro)
|
|
|
NM_001369.3(DNAH5):c.6070C>A (p.Gln2024Lys)
|
rs989184330
|
|
NM_001369.3(DNAH5):c.6086G>T (p.Gly2029Val)
|
rs1763454468
|
|
NM_001369.3(DNAH5):c.6107G>T (p.Arg2036Leu)
|
rs760502991
|
|
NM_001369.3(DNAH5):c.6173A>G (p.Glu2058Gly)
|
|
|
NM_001369.3(DNAH5):c.6249+4A>T
|
rs1554067648
|
|
NM_001369.3(DNAH5):c.624C>G (p.Asn208Lys)
|
rs139640247
|
|
NM_001369.3(DNAH5):c.6250-3del
|
rs2151835529
|
|
NM_001369.3(DNAH5):c.6325C>T (p.Pro2109Ser)
|
|
|
NM_001369.3(DNAH5):c.6332G>A (p.Arg2111His)
|
|
|
NM_001369.3(DNAH5):c.6343A>G (p.Ile2115Val)
|
|
|
NM_001369.3(DNAH5):c.6349G>T (p.Val2117Leu)
|
rs1763365674
|
|
NM_001369.3(DNAH5):c.6466C>T (p.Arg2156Cys)
|
|
|
NM_001369.3(DNAH5):c.6580A>G (p.Ile2194Val)
|
|
|
NM_001369.3(DNAH5):c.6581T>C (p.Ile2194Thr)
|
rs755113058
|
|
NM_001369.3(DNAH5):c.6650C>A (p.Ala2217Glu)
|
rs748338986
|
|
NM_001369.3(DNAH5):c.6658C>A (p.Pro2220Thr)
|
rs2151821296
|
|
NM_001369.3(DNAH5):c.6661G>A (p.Glu2221Lys)
|
|
|
NM_001369.3(DNAH5):c.6681T>A (p.Ser2227Arg)
|
|
|
NM_001369.3(DNAH5):c.676T>C (p.Cys226Arg)
|
|
|
NM_001369.3(DNAH5):c.6796G>A (p.Ala2266Thr)
|
rs1023849945
|
|
NM_001369.3(DNAH5):c.6839C>T (p.Thr2280Ile)
|
|
|
NM_001369.3(DNAH5):c.6884C>G (p.Ala2295Gly)
|
rs368441809
|
|
NM_001369.3(DNAH5):c.6884C>T (p.Ala2295Val)
|
rs368441809
|
|
NM_001369.3(DNAH5):c.6905T>G (p.Phe2302Cys)
|
|
|
NM_001369.3(DNAH5):c.6908G>T (p.Gly2303Val)
|
rs1580399696
|
|
NM_001369.3(DNAH5):c.6925A>C (p.Thr2309Pro)
|
rs1761613337
|
|
NM_001369.3(DNAH5):c.698C>G (p.Thr233Ser)
|
|
|
NM_001369.3(DNAH5):c.7000T>C (p.Trp2334Arg)
|
|
|
NM_001369.3(DNAH5):c.7012G>C (p.Asp2338His)
|
rs2151800746
|
|
NM_001369.3(DNAH5):c.7027G>T (p.Ala2343Ser)
|
|
|
NM_001369.3(DNAH5):c.7204A>C (p.Ile2402Leu)
|
rs1368779884
|
|
NM_001369.3(DNAH5):c.7230G>C (p.Glu2410Asp)
|
|
|
NM_001369.3(DNAH5):c.7231-6del
|
|
|
NM_001369.3(DNAH5):c.734A>G (p.Asn245Ser)
|
rs2151992686
|
|
NM_001369.3(DNAH5):c.7381A>G (p.Met2461Val)
|
|
|
NM_001369.3(DNAH5):c.7385T>A (p.Leu2462His)
|
rs1554059594
|
|
NM_001369.3(DNAH5):c.7390G>A (p.Gly2464Ser)
|
rs112103817
|
|
NM_001369.3(DNAH5):c.7407+4A>C
|
|
|
NM_001369.3(DNAH5):c.7430A>G (p.Gln2477Arg)
|
|
|
NM_001369.3(DNAH5):c.7444C>T (p.Arg2482Trp)
|
rs1355327016
|
|
NM_001369.3(DNAH5):c.7452C>G (p.Phe2484Leu)
|
rs561666802
|
|
NM_001369.3(DNAH5):c.7481C>A (p.Ala2494Glu)
|
rs1428862297
|
|
NM_001369.3(DNAH5):c.7514A>T (p.Glu2505Val)
|
|
|
NM_001369.3(DNAH5):c.7531C>G (p.Arg2511Gly)
|
rs564040169
|
|
NM_001369.3(DNAH5):c.7534C>G (p.Pro2512Ala)
|
rs1760398139
|
|
NM_001369.3(DNAH5):c.759A>G (p.Ile253Met)
|
|
|
NM_001369.3(DNAH5):c.7612A>G (p.Thr2538Ala)
|
rs1340645369
|
|
NM_001369.3(DNAH5):c.7634G>A (p.Arg2545His)
|
|
|
NM_001369.3(DNAH5):c.7679G>A (p.Gly2560Asp)
|
rs1554058022
|
|
NM_001369.3(DNAH5):c.770T>C (p.Met257Thr)
|
rs771377608
|
|
NM_001369.3(DNAH5):c.7742A>G (p.Lys2581Arg)
|
rs1279883936
|
|
NM_001369.3(DNAH5):c.774A>G (p.Lys258=)
|
rs1580893288
|
|
NM_001369.3(DNAH5):c.7752G>A (p.Lys2584=)
|
|
|
NM_001369.3(DNAH5):c.7805G>A (p.Gly2602Glu)
|
|
|
NM_001369.3(DNAH5):c.7810A>T (p.Met2604Leu)
|
|
|
NM_001369.3(DNAH5):c.798+2dup
|
rs1777130854
|
|
NM_001369.3(DNAH5):c.7994A>G (p.Asn2665Ser)
|
rs774224537
|
|
NM_001369.3(DNAH5):c.8015C>T (p.Thr2672Met)
|
rs1358728493
|
|
NM_001369.3(DNAH5):c.8043A>C (p.Glu2681Asp)
|
|
|
NM_001369.3(DNAH5):c.8077G>A (p.Glu2693Lys)
|
rs1757368494
|
|
NM_001369.3(DNAH5):c.8080T>G (p.Phe2694Val)
|
|
|
NM_001369.3(DNAH5):c.8122C>T (p.His2708Tyr)
|
|
|
NM_001369.3(DNAH5):c.8126C>T (p.Pro2709Leu)
|
|
|
NM_001369.3(DNAH5):c.8170T>A (p.Phe2724Ile)
|
rs753702337
|
|
NM_001369.3(DNAH5):c.8189C>T (p.Thr2730Met)
|
|
|
NM_001369.3(DNAH5):c.8217G>C (p.Lys2739Asn)
|
rs375287005
|
|
NM_001369.3(DNAH5):c.8217_8218insCTTCTGTGG (p.Lys2739_Ile2740insLeuLeuTrp)
|
rs748140396
|
|
NM_001369.3(DNAH5):c.8224+5A>G
|
|
|
NM_001369.3(DNAH5):c.8246A>G (p.Tyr2749Cys)
|
rs1757110482
|
|
NM_001369.3(DNAH5):c.8261G>T (p.Gly2754Val)
|
|
|
NM_001369.3(DNAH5):c.8312G>A (p.Arg2771His)
|
rs199643592
|
|
NM_001369.3(DNAH5):c.8410A>G (p.Met2804Val)
|
rs199629940
|
|
NM_001369.3(DNAH5):c.8530G>A (p.Asp2844Asn)
|
rs2126882668
|
|
NM_001369.3(DNAH5):c.854C>G (p.Ala285Gly)
|
|
|
NM_001369.3(DNAH5):c.8552T>C (p.Val2851Ala)
|
rs1756491046
|
|
NM_001369.3(DNAH5):c.8618A>G (p.Asp2873Gly)
|
rs1347729037
|
|
NM_001369.3(DNAH5):c.8631T>A (p.Asp2877Glu)
|
|
|
NM_001369.3(DNAH5):c.8633C>T (p.Ala2878Val)
|
rs1756476635
|
|
NM_001369.3(DNAH5):c.8647+3A>G
|
rs1580248475
|
|
NM_001369.3(DNAH5):c.8726G>T (p.Arg2909Leu)
|
rs756069405
|
|
NM_001369.3(DNAH5):c.8752A>G (p.Asn2918Asp)
|
rs1755979769
|
|
NM_001369.3(DNAH5):c.8805G>A (p.Met2935Ile)
|
|
|
NM_001369.3(DNAH5):c.8820+6G>A
|
rs201287534
|
|
NM_001369.3(DNAH5):c.8962A>G (p.Thr2988Ala)
|
rs1754251806
|
|
NM_001369.3(DNAH5):c.9010C>A (p.Gln3004Lys)
|
rs1754241068
|
|
NM_001369.3(DNAH5):c.9056A>G (p.Lys3019Arg)
|
|
|
NM_001369.3(DNAH5):c.9071T>G (p.Leu3024Trp)
|
|
|
NM_001369.3(DNAH5):c.909A>C (p.Gln303His)
|
|
|
NM_001369.3(DNAH5):c.9151G>A (p.Asp3051Asn)
|
|
|
NM_001369.3(DNAH5):c.919C>T (p.Pro307Ser)
|
|
|
NM_001369.3(DNAH5):c.9214G>A (p.Asp3072Asn)
|
|
|
NM_001369.3(DNAH5):c.9250A>G (p.Ile3084Val)
|
|
|
NM_001369.3(DNAH5):c.9452C>G (p.Ser3151Cys)
|
rs1243099431
|
|
NM_001369.3(DNAH5):c.9478T>C (p.Cys3160Arg)
|
|
|
NM_001369.3(DNAH5):c.9511A>C (p.Thr3171Pro)
|
|
|
NM_001369.3(DNAH5):c.9511A>G (p.Thr3171Ala)
|
rs149681419
|
|
NM_001369.3(DNAH5):c.9531A>G (p.Ser3177=)
|
rs764594038
|
|
NM_001369.3(DNAH5):c.9538_9539delinsCT (p.Ser3180Leu)
|
|
|
NM_001369.3(DNAH5):c.9580G>T (p.Val3194Leu)
|
rs2126785528
|
|
NM_001369.3(DNAH5):c.9606-7A>G
|
rs1753043312
|
|
NM_001369.3(DNAH5):c.9655G>A (p.Ala3219Thr)
|
rs1554040804
|
|
NM_001369.3(DNAH5):c.9720G>T (p.Met3240Ile)
|
|
|
NM_001369.3(DNAH5):c.9739A>G (p.Met3247Val)
|
rs780887847
|
|
NM_001369.3(DNAH5):c.975+3C>A
|
|
|
NM_001369.3(DNAH5):c.9751G>C (p.Ala3251Pro)
|
|
|
NM_001369.3(DNAH5):c.9764T>G (p.Val3255Gly)
|
rs2126776737
|
|
NM_001369.3(DNAH5):c.9788A>G (p.Lys3263Arg)
|
|
|
NM_001369.3(DNAH5):c.9815G>A (p.Ser3272Asn)
|
|
|
NM_001369.3(DNAH5):c.9842A>G (p.Glu3281Gly)
|
|
|
NM_001369.3(DNAH5):c.9890C>T (p.Ala3297Val)
|
|
|
NM_001369.3(DNAH5):c.9896A>G (p.Gln3299Arg)
|
rs727503902
|
|
NM_001369.3(DNAH5):c.9932C>T (p.Thr3311Met)
|
|
|
NM_001369.3(DNAH5):c.9940C>T (p.Arg3314Cys)
|
rs755923477
|
|
NM_001369.3(DNAH5):c.9967A>G (p.Met3323Val)
|
rs1554039465
|
|
NM_001369.3(DNAH5):c.9976G>T (p.Val3326Leu)
|
|
|
NM_001375405.1(CEP120):c.1034C>T (p.Ser345Phe)
|
rs1772365923
|
|
NM_001375405.1(CEP120):c.1038+6T>C
|
rs1064796555
|
|
NM_001375405.1(CEP120):c.1062G>C (p.Gln354His)
|
rs775393475
|
|
NM_001375405.1(CEP120):c.106G>A (p.Gly36Arg)
|
|
|
NM_001375405.1(CEP120):c.1101A>C (p.Leu367Phe)
|
|
|
NM_001375405.1(CEP120):c.113A>T (p.Gln38Leu)
|
|
|
NM_001375405.1(CEP120):c.1151C>A (p.Ser384Tyr)
|
|
|
NM_001375405.1(CEP120):c.1190A>C (p.Asp397Ala)
|
|
|
NM_001375405.1(CEP120):c.1304A>G (p.Asn435Ser)
|
|
|
NM_001375405.1(CEP120):c.1318G>A (p.Ala440Thr)
|
|
|
NM_001375405.1(CEP120):c.1391A>T (p.His464Leu)
|
rs776098623
|
|
NM_001375405.1(CEP120):c.1465A>C (p.Ile489Leu)
|
|
|
NM_001375405.1(CEP120):c.1477CCT[1] (p.Pro494del)
|
|
|
NM_001375405.1(CEP120):c.1492C>T (p.Arg498Trp)
|
|
|
NM_001375405.1(CEP120):c.151G>C (p.Glu51Gln)
|
|
|
NM_001375405.1(CEP120):c.1621A>G (p.Ser541Gly)
|
rs1771927226
|
|
NM_001375405.1(CEP120):c.1681A>G (p.Lys561Glu)
|
|
|
NM_001375405.1(CEP120):c.1720C>T (p.Arg574Cys)
|
|
|
NM_001375405.1(CEP120):c.1741G>A (p.Val581Met)
|
|
|
NM_001375405.1(CEP120):c.1741G>C (p.Val581Leu)
|
|
|
NM_001375405.1(CEP120):c.1742T>C (p.Val581Ala)
|
|
|
NM_001375405.1(CEP120):c.1831C>G (p.Arg611Gly)
|
rs150132498
|
|
NM_001375405.1(CEP120):c.1832G>A (p.Arg611His)
|
rs758625645
|
|
NM_001375405.1(CEP120):c.1843A>C (p.Ile615Leu)
|
rs753544415
|
|
NM_001375405.1(CEP120):c.1862G>T (p.Gly621Val)
|
|
|
NM_001375405.1(CEP120):c.1900C>G (p.Pro634Ala)
|
rs748599073
|
|
NM_001375405.1(CEP120):c.1909_1910delinsGT (p.Cys637Val)
|
|
|
NM_001375405.1(CEP120):c.191C>T (p.Ala64Val)
|
|
|
NM_001375405.1(CEP120):c.1928C>G (p.Thr643Arg)
|
|
|
NM_001375405.1(CEP120):c.1937G>A (p.Arg646His)
|
|
|
NM_001375405.1(CEP120):c.1943C>T (p.Thr648Met)
|
|
|
NM_001375405.1(CEP120):c.1948G>C (p.Glu650Gln)
|
rs1280274264
|
|
NM_001375405.1(CEP120):c.2175G>C (p.Gln725His)
|
|
|
NM_001375405.1(CEP120):c.2185G>A (p.Val729Met)
|
|
|
NM_001375405.1(CEP120):c.2196+5G>A
|
|
|
NM_001375405.1(CEP120):c.220C>A (p.Pro74Thr)
|
rs1774369109
|
|
NM_001375405.1(CEP120):c.2226_2234del (p.Glu743_Gln745del)
|
|
|
NM_001375405.1(CEP120):c.2266C>T (p.Arg756Cys)
|
|
|
NM_001375405.1(CEP120):c.2283C>G (p.Asp761Glu)
|
rs2127034566
|
|
NM_001375405.1(CEP120):c.2292C>G (p.His764Gln)
|
|
|
NM_001375405.1(CEP120):c.2301A>C (p.Glu767Asp)
|
|
|
NM_001375405.1(CEP120):c.2344C>T (p.Arg782Cys)
|
|
|
NM_001375405.1(CEP120):c.2345G>A (p.Arg782His)
|
rs768733124
|
|
NM_001375405.1(CEP120):c.2418C>A (p.Asp806Glu)
|
rs1770933357
|
|
NM_001375405.1(CEP120):c.2458A>G (p.Ile820Val)
|
|
|
NM_001375405.1(CEP120):c.2481+6C>T
|
|
|
NM_001375405.1(CEP120):c.2494A>G (p.Arg832Gly)
|
rs2127002614
|
|
NM_001375405.1(CEP120):c.2548C>G (p.Arg850Gly)
|
rs772596480
|
|
NM_001375405.1(CEP120):c.2580+4T>G
|
|
|
NM_001375405.1(CEP120):c.2605C>T (p.Arg869Cys)
|
|
|
NM_001375405.1(CEP120):c.2619G>C (p.Gln873His)
|
rs963767744
|
|
NM_001375405.1(CEP120):c.2638A>C (p.Met880Leu)
|
rs763397454
|
|
NM_001375405.1(CEP120):c.2648G>A (p.Arg883His)
|
|
|
NM_001375405.1(CEP120):c.2659G>A (p.Ala887Thr)
|
|
|
NM_001375405.1(CEP120):c.2707A>G (p.Ile903Val)
|
|
|
NM_001375405.1(CEP120):c.2753A>T (p.Tyr918Phe)
|
|
|
NM_001375405.1(CEP120):c.278G>A (p.Gly93Asp)
|
rs1554106320
|
|
NM_001375405.1(CEP120):c.2824G>A (p.Asp942Asn)
|
|
|
NM_001375405.1(CEP120):c.2839C>T (p.Arg947Cys)
|
|
|
NM_001375405.1(CEP120):c.285C>G (p.Ile95Met)
|
rs367752008
|
|
NM_001375405.1(CEP120):c.286G>A (p.Val96Ile)
|
|
|
NM_001375405.1(CEP120):c.325C>T (p.Pro109Ser)
|
|
|
NM_001375405.1(CEP120):c.368A>T (p.Lys123Met)
|
|
|
NM_001375405.1(CEP120):c.397G>C (p.Glu133Gln)
|
|
|
NM_001375405.1(CEP120):c.464-8C>G
|
|
|
NM_001375405.1(CEP120):c.469G>A (p.Ala157Thr)
|
rs1379324177
|
|
NM_001375405.1(CEP120):c.52C>T (p.Arg18Trp)
|
rs371099291
|
|
NM_001375405.1(CEP120):c.559A>C (p.Thr187Pro)
|
|
|
NM_001375405.1(CEP120):c.649C>T (p.Pro217Ser)
|
rs1772538722
|
|
NM_001375405.1(CEP120):c.736G>A (p.Glu246Lys)
|
|
|
NM_001375405.1(CEP120):c.76C>T (p.His26Tyr)
|
|
|
NM_001375405.1(CEP120):c.772A>G (p.Ile258Val)
|
|
|
NM_001375405.1(CEP120):c.779G>T (p.Arg260Leu)
|
rs189429890
|
|
NM_001375405.1(CEP120):c.797A>G (p.Gln266Arg)
|
|
|
NM_001375405.1(CEP120):c.842G>A (p.Gly281Glu)
|
|
|
NM_001375405.1(CEP120):c.896A>G (p.Asn299Ser)
|
|
|
NM_001375405.1(CEP120):c.94G>A (p.Ala32Thr)
|
|
|
NM_001375405.1(CEP120):c.991A>C (p.Thr331Pro)
|
|
|
NM_001377.3(DYNC2H1):c.1000G>A (p.Val334Ile)
|
rs1273059968
|
|
NM_001377.3(DYNC2H1):c.10088A>G (p.Asn3363Ser)
|
|
|
NM_001377.3(DYNC2H1):c.10181CAA[1] (p.Thr3395del)
|
rs572595399
|
|
NM_001377.3(DYNC2H1):c.10183A>G (p.Thr3395Ala)
|
rs757061327
|
|
NM_001377.3(DYNC2H1):c.10184C>G (p.Thr3395Arg)
|
rs778720641
|
|
NM_001377.3(DYNC2H1):c.10206+6C>T
|
rs1591478542
|
|
NM_001377.3(DYNC2H1):c.10237C>G (p.Pro3413Ala)
|
rs786204223
|
|
NM_001377.3(DYNC2H1):c.10252C>A (p.Gln3418Lys)
|
rs543525711
|
|
NM_001377.3(DYNC2H1):c.10292T>C (p.Ile3431Thr)
|
rs1325471732
|
|
NM_001377.3(DYNC2H1):c.10314A>T (p.Glu3438Asp)
|
|
|
NM_001377.3(DYNC2H1):c.10345G>A (p.Gly3449Ser)
|
|
|
NM_001377.3(DYNC2H1):c.10445A>G (p.Gln3482Arg)
|
|
|
NM_001377.3(DYNC2H1):c.10451C>G (p.Ser3484Cys)
|
|
|
NM_001377.3(DYNC2H1):c.10465C>T (p.Arg3489Trp)
|
|
|
NM_001377.3(DYNC2H1):c.10495_10496delinsTT (p.Ala3499Phe)
|
rs2135267286
|
|
NM_001377.3(DYNC2H1):c.10549C>T (p.Arg3517Cys)
|
|
|
NM_001377.3(DYNC2H1):c.10600A>G (p.Lys3534Glu)
|
|
|
NM_001377.3(DYNC2H1):c.1066A>G (p.Ile356Val)
|
|
|
NM_001377.3(DYNC2H1):c.10684_10686del (p.Cys3562del)
|
rs2135273195
|
|
NM_001377.3(DYNC2H1):c.10808A>C (p.Lys3603Thr)
|
|
|
NM_001377.3(DYNC2H1):c.10826A>G (p.Lys3609Arg)
|
|
|
NM_001377.3(DYNC2H1):c.10856A>C (p.Asp3619Ala)
|
rs370414127
|
|
NM_001377.3(DYNC2H1):c.10865G>C (p.Arg3622Pro)
|
|
|
NM_001377.3(DYNC2H1):c.10910A>G (p.Tyr3637Cys)
|
|
|
NM_001377.3(DYNC2H1):c.10927G>A (p.Glu3643Lys)
|
|
|
NM_001377.3(DYNC2H1):c.10945C>A (p.Arg3649Ser)
|
rs763800155
|
|
NM_001377.3(DYNC2H1):c.10990A>G (p.Ile3664Val)
|
rs1866352347
|
|
NM_001377.3(DYNC2H1):c.1100G>A (p.Gly367Asp)
|
|
|
NM_001377.3(DYNC2H1):c.11312C>G (p.Ala3771Gly)
|
|
|
NM_001377.3(DYNC2H1):c.11315G>A (p.Arg3772His)
|
|
|
NM_001377.3(DYNC2H1):c.11348A>C (p.His3783Pro)
|
|
|
NM_001377.3(DYNC2H1):c.11383-5A>G
|
rs1867360884
|
|
NM_001377.3(DYNC2H1):c.11411C>G (p.Thr3804Ser)
|
rs779520771
|
|
NM_001377.3(DYNC2H1):c.11445C>T (p.Pro3815=)
|
|
|
NM_001377.3(DYNC2H1):c.11455C>G (p.Pro3819Ala)
|
|
|
NM_001377.3(DYNC2H1):c.11493G>A (p.Glu3831=)
|
rs778529441
|
|
NM_001377.3(DYNC2H1):c.11520A>T (p.Leu3840Phe)
|
|
|
NM_001377.3(DYNC2H1):c.11524C>T (p.Arg3842Cys)
|
|
|
NM_001377.3(DYNC2H1):c.11551C>A (p.Gln3851Lys)
|
|
|
NM_001377.3(DYNC2H1):c.11576A>T (p.His3859Leu)
|
|
|
NM_001377.3(DYNC2H1):c.11581G>T (p.Ala3861Ser)
|
|
|
NM_001377.3(DYNC2H1):c.11635A>G (p.Asn3879Asp)
|
|
|
NM_001377.3(DYNC2H1):c.11689C>T (p.Arg3897Trp)
|
|
|
NM_001377.3(DYNC2H1):c.11728G>T (p.Ala3910Ser)
|
|
|
NM_001377.3(DYNC2H1):c.11731A>G (p.Lys3911Glu)
|
rs2135437450
|
|
NM_001377.3(DYNC2H1):c.11786G>T (p.Gly3929Val)
|
|
|
NM_001377.3(DYNC2H1):c.11789G>A (p.Arg3930His)
|
|
|
NM_001377.3(DYNC2H1):c.11903C>G (p.Ser3968Cys)
|
rs1335936507
|
|
NM_001377.3(DYNC2H1):c.1194A>T (p.Lys398Asn)
|
rs2134714754
|
|
NM_001377.3(DYNC2H1):c.11959A>G (p.Ile3987Val)
|
rs558493613
|
|
NM_001377.3(DYNC2H1):c.1197A>G (p.Ile399Met)
|
|
|
NM_001377.3(DYNC2H1):c.12023G>A (p.Arg4008His)
|
|
|
NM_001377.3(DYNC2H1):c.12109T>G (p.Ser4037Ala)
|
|
|
NM_001377.3(DYNC2H1):c.12131T>C (p.Leu4044Pro)
|
rs1940457627
|
|
NM_001377.3(DYNC2H1):c.12172_12180del (p.His4058_Lys4060del)
|
rs1591686031
|
|
NM_001377.3(DYNC2H1):c.12338A>G (p.Lys4113Arg)
|
rs1420095948
|
|
NM_001377.3(DYNC2H1):c.12434T>C (p.Val4145Ala)
|
|
|
NM_001377.3(DYNC2H1):c.12470A>G (p.Lys4157Arg)
|
|
|
NM_001377.3(DYNC2H1):c.12482A>G (p.Gln4161Arg)
|
|
|
NM_001377.3(DYNC2H1):c.12484G>T (p.Ala4162Ser)
|
rs866777192
|
|
NM_001377.3(DYNC2H1):c.12485C>T (p.Ala4162Val)
|
|
|
NM_001377.3(DYNC2H1):c.12530A>G (p.Asp4177Gly)
|
|
|
NM_001377.3(DYNC2H1):c.12556G>A (p.Glu4186Lys)
|
rs764491760
|
|
NM_001377.3(DYNC2H1):c.12577C>T (p.Arg4193Cys)
|
|
|
NM_001377.3(DYNC2H1):c.12620G>A (p.Arg4207Gln)
|
|
|
NM_001377.3(DYNC2H1):c.12623T>G (p.Leu4208Arg)
|
|
|
NM_001377.3(DYNC2H1):c.12766G>C (p.Asp4256His)
|
rs772516163
|
|
NM_001377.3(DYNC2H1):c.12790G>A (p.Asp4264Asn)
|
|
|
NM_001377.3(DYNC2H1):c.12836G>A (p.Arg4279His)
|
|
|
NM_001377.3(DYNC2H1):c.1322G>A (p.Arg441Lys)
|
rs2134715900
|
|
NM_001377.3(DYNC2H1):c.1334T>C (p.Leu445Pro)
|
rs2134715945
|
|
NM_001377.3(DYNC2H1):c.1397T>A (p.Ile466Asn)
|
|
|
NM_001377.3(DYNC2H1):c.1399C>T (p.Pro467Ser)
|
rs1858702281
|
|
NM_001377.3(DYNC2H1):c.1454G>T (p.Ser485Ile)
|
rs779488462
|
|
NM_001377.3(DYNC2H1):c.145A>T (p.Met49Leu)
|
|
|
NM_001377.3(DYNC2H1):c.1485+4T>C
|
rs2134718326
|
|
NM_001377.3(DYNC2H1):c.1489G>A (p.Asp497Asn)
|
|
|
NM_001377.3(DYNC2H1):c.1504A>G (p.Ile502Val)
|
|
|
NM_001377.3(DYNC2H1):c.1614G>C (p.Trp538Cys)
|
|
|
NM_001377.3(DYNC2H1):c.1631C>T (p.Ser544Leu)
|
rs1858796228
|
|
NM_001377.3(DYNC2H1):c.1664T>G (p.Ile555Ser)
|
rs1858922505
|
|
NM_001377.3(DYNC2H1):c.1681A>G (p.Ile561Val)
|
|
|
NM_001377.3(DYNC2H1):c.1705G>C (p.Gly569Arg)
|
|
|
NM_001377.3(DYNC2H1):c.173C>G (p.Ala58Gly)
|
|
|
NM_001377.3(DYNC2H1):c.1755A>G (p.Glu585=)
|
|
|
NM_001377.3(DYNC2H1):c.1769C>T (p.Ser590Phe)
|
rs1269262525
|
|
NM_001377.3(DYNC2H1):c.1844T>C (p.Ile615Thr)
|
rs2134734586
|
|
NM_001377.3(DYNC2H1):c.1868T>C (p.Phe623Ser)
|
rs2134749282
|
|
NM_001377.3(DYNC2H1):c.1879A>G (p.Ile627Val)
|
|
|
NM_001377.3(DYNC2H1):c.192C>G (p.Asn64Lys)
|
|
|
NM_001377.3(DYNC2H1):c.195+5G>A
|
rs774148120
|
|
NM_001377.3(DYNC2H1):c.1A>G (p.Met1Val)
|
|
|
NM_001377.3(DYNC2H1):c.2050C>T (p.Arg684Trp)
|
|
|
NM_001377.3(DYNC2H1):c.2107G>T (p.Val703Leu)
|
|
|
NM_001377.3(DYNC2H1):c.2149C>A (p.Arg717Ser)
|
rs576204512
|
|
NM_001377.3(DYNC2H1):c.2150G>A (p.Arg717His)
|
|
|
NM_001377.3(DYNC2H1):c.216A>C (p.Lys72Asn)
|
|
|
NM_001377.3(DYNC2H1):c.2206-4T>G
|
|
|
NM_001377.3(DYNC2H1):c.2420T>C (p.Ile807Thr)
|
|
|
NM_001377.3(DYNC2H1):c.2423G>A (p.Gly808Asp)
|
|
|
NM_001377.3(DYNC2H1):c.2512A>G (p.Thr838Ala)
|
|
|
NM_001377.3(DYNC2H1):c.2533G>C (p.Asp845His)
|
rs879676957
|
|
NM_001377.3(DYNC2H1):c.2558T>C (p.Val853Ala)
|
rs1859514020
|
|
NM_001377.3(DYNC2H1):c.2564A>C (p.His855Pro)
|
rs762644833
|
|
NM_001377.3(DYNC2H1):c.2564A>G (p.His855Arg)
|
rs762644833
|
|
NM_001377.3(DYNC2H1):c.2570A>G (p.His857Arg)
|
|
|
NM_001377.3(DYNC2H1):c.2600_2602del (p.Asp867_Met868delinsVal)
|
rs2134829810
|
|
NM_001377.3(DYNC2H1):c.2624A>G (p.His875Arg)
|
|
|
NM_001377.3(DYNC2H1):c.2635G>A (p.Val879Ile)
|
|
|
NM_001377.3(DYNC2H1):c.2635G>C (p.Val879Leu)
|
|
|
NM_001377.3(DYNC2H1):c.2636T>C (p.Val879Ala)
|
|
|
NM_001377.3(DYNC2H1):c.2640T>G (p.His880Gln)
|
|
|
NM_001377.3(DYNC2H1):c.2641G>T (p.Asp881Tyr)
|
|
|
NM_001377.3(DYNC2H1):c.2647G>A (p.Glu883Lys)
|
|
|
NM_001377.3(DYNC2H1):c.2686G>T (p.Val896Leu)
|
|
|
NM_001377.3(DYNC2H1):c.269A>G (p.Asn90Ser)
|
|
|
NM_001377.3(DYNC2H1):c.2741C>G (p.Pro914Arg)
|
|
|
NM_001377.3(DYNC2H1):c.2780T>C (p.Phe927Ser)
|
|
|
NM_001377.3(DYNC2H1):c.2807A>G (p.Lys936Arg)
|
|
|
NM_001377.3(DYNC2H1):c.2939A>G (p.Lys980Arg)
|
|
|
NM_001377.3(DYNC2H1):c.3085A>G (p.Ile1029Val)
|
|
|
NM_001377.3(DYNC2H1):c.3127C>T (p.Arg1043Cys)
|
|
|
NM_001377.3(DYNC2H1):c.3440A>G (p.Glu1147Gly)
|
|
|
NM_001377.3(DYNC2H1):c.3454T>G (p.Phe1152Val)
|
rs1054675967
|
|
NM_001377.3(DYNC2H1):c.3457C>T (p.Arg1153Trp)
|
|
|
NM_001377.3(DYNC2H1):c.347T>C (p.Phe116Ser)
|
rs1020246530
|
|
NM_001377.3(DYNC2H1):c.3556G>A (p.Glu1186Lys)
|
|
|
NM_001377.3(DYNC2H1):c.3560T>C (p.Val1187Ala)
|
rs2134886800
|
|
NM_001377.3(DYNC2H1):c.35T>G (p.Phe12Cys)
|
|
|
NM_001377.3(DYNC2H1):c.3644G>T (p.Arg1215Leu)
|
|
|
NM_001377.3(DYNC2H1):c.3650T>C (p.Leu1217Pro)
|
rs2134890045
|
|
NM_001377.3(DYNC2H1):c.365A>C (p.Lys122Thr)
|
|
|
NM_001377.3(DYNC2H1):c.3678G>T (p.Glu1226Asp)
|
|
|
NM_001377.3(DYNC2H1):c.3700C>T (p.Leu1234Phe)
|
rs2134890455
|
|
NM_001377.3(DYNC2H1):c.3757C>A (p.Arg1253=)
|
|
|
NM_001377.3(DYNC2H1):c.3860G>A (p.Arg1287Gln)
|
|
|
NM_001377.3(DYNC2H1):c.3890A>G (p.Asp1297Gly)
|
|
|
NM_001377.3(DYNC2H1):c.3953A>G (p.Tyr1318Cys)
|
|
|
NM_001377.3(DYNC2H1):c.3995T>G (p.Leu1332Arg)
|
rs786204078
|
|
NM_001377.3(DYNC2H1):c.4099C>T (p.Arg1367Cys)
|
|
|
NM_001377.3(DYNC2H1):c.4100G>A (p.Arg1367His)
|
rs1482736503
|
|
NM_001377.3(DYNC2H1):c.4153G>T (p.Asp1385Tyr)
|
rs1860945774
|
|
NM_001377.3(DYNC2H1):c.4307A>G (p.Asp1436Gly)
|
rs1014987027
|
|
NM_001377.3(DYNC2H1):c.4394G>C (p.Cys1465Ser)
|
rs1861065835
|
|
NM_001377.3(DYNC2H1):c.43A>T (p.Thr15Ser)
|
|
|
NM_001377.3(DYNC2H1):c.4511C>T (p.Ala1504Val)
|
|
|
NM_001377.3(DYNC2H1):c.4532T>G (p.Leu1511Trp)
|
|
|
NM_001377.3(DYNC2H1):c.4567C>G (p.Arg1523Gly)
|
|
|
NM_001377.3(DYNC2H1):c.4568G>A (p.Arg1523Gln)
|
|
|
NM_001377.3(DYNC2H1):c.4574C>A (p.Ser1525Tyr)
|
|
|
NM_001377.3(DYNC2H1):c.463A>C (p.Asn155His)
|
|
|
NM_001377.3(DYNC2H1):c.4669G>A (p.Asp1557Asn)
|
rs2134944386
|
|
NM_001377.3(DYNC2H1):c.4696C>G (p.Gln1566Glu)
|
|
|
NM_001377.3(DYNC2H1):c.4729A>G (p.Ile1577Val)
|
|
|
NM_001377.3(DYNC2H1):c.4759A>G (p.Thr1587Ala)
|
|
|
NM_001377.3(DYNC2H1):c.4766C>T (p.Ser1589Leu)
|
|
|
NM_001377.3(DYNC2H1):c.4813C>T (p.His1605Tyr)
|
rs2134958830
|
|
NM_001377.3(DYNC2H1):c.4898A>G (p.Tyr1633Cys)
|
|
|
NM_001377.3(DYNC2H1):c.4919G>T (p.Cys1640Phe)
|
rs776388776
|
|
NM_001377.3(DYNC2H1):c.496A>G (p.Thr166Ala)
|
|
|
NM_001377.3(DYNC2H1):c.500G>A (p.Arg167Gln)
|
|
|
NM_001377.3(DYNC2H1):c.5014T>C (p.Tyr1672His)
|
|
|
NM_001377.3(DYNC2H1):c.5021C>G (p.Thr1674Ser)
|
|
|
NM_001377.3(DYNC2H1):c.503G>A (p.Gly168Asp)
|
|
|
NM_001377.3(DYNC2H1):c.5114T>C (p.Leu1705Pro)
|
rs878854166
|
|
NM_001377.3(DYNC2H1):c.5141A>T (p.Asn1714Ile)
|
rs2134964404
|
|
NM_001377.3(DYNC2H1):c.5143T>A (p.Cys1715Ser)
|
|
|
NM_001377.3(DYNC2H1):c.517A>T (p.Ser173Cys)
|
|
|
NM_001377.3(DYNC2H1):c.5213G>T (p.Gly1738Val)
|
rs1209973260
|
|
NM_001377.3(DYNC2H1):c.5315G>A (p.Cys1772Tyr)
|
|
|
NM_001377.3(DYNC2H1):c.5390G>T (p.Gly1797Val)
|
|
|
NM_001377.3(DYNC2H1):c.5399G>A (p.Gly1800Glu)
|
rs1555056136
|
|
NM_001377.3(DYNC2H1):c.5417A>C (p.Asp1806Ala)
|
|
|
NM_001377.3(DYNC2H1):c.544C>G (p.Gln182Glu)
|
|
|
NM_001377.3(DYNC2H1):c.5486T>C (p.Ile1829Thr)
|
rs367807679
|
|
NM_001377.3(DYNC2H1):c.5511C>A (p.Asp1837Glu)
|
|
|
NM_001377.3(DYNC2H1):c.5548A>G (p.Asn1850Asp)
|
|
|
NM_001377.3(DYNC2H1):c.5585A>G (p.Tyr1862Cys)
|
|
|
NM_001377.3(DYNC2H1):c.5593G>A (p.Gly1865Ser)
|
|
|
NM_001377.3(DYNC2H1):c.5674+4T>G
|
|
|
NM_001377.3(DYNC2H1):c.5750G>A (p.Arg1917Gln)
|
|
|
NM_001377.3(DYNC2H1):c.5783G>A (p.Gly1928Glu)
|
rs1164274164
|
|
NM_001377.3(DYNC2H1):c.5786T>C (p.Ile1929Thr)
|
rs2134988923
|
|
NM_001377.3(DYNC2H1):c.5885C>G (p.Ala1962Gly)
|
rs2134994109
|
|
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val)
|
rs963717773
|
|
NM_001377.3(DYNC2H1):c.622G>A (p.Glu208Lys)
|
|
|
NM_001377.3(DYNC2H1):c.6311C>T (p.Pro2104Leu)
|
|
|
NM_001377.3(DYNC2H1):c.6335T>A (p.Met2112Lys)
|
rs2135001459
|
|
NM_001377.3(DYNC2H1):c.6336G>T (p.Met2112Ile)
|
|
|
NM_001377.3(DYNC2H1):c.635T>C (p.Leu212Ser)
|
|
|
NM_001377.3(DYNC2H1):c.6383C>T (p.Ser2128Phe)
|
|
|
NM_001377.3(DYNC2H1):c.6466G>A (p.Val2156Ile)
|
|
|
NM_001377.3(DYNC2H1):c.6512C>T (p.Thr2171Ile)
|
|
|
NM_001377.3(DYNC2H1):c.6559G>A (p.Glu2187Lys)
|
|
|
NM_001377.3(DYNC2H1):c.6560A>G (p.Glu2187Gly)
|
rs745882724
|
|
NM_001377.3(DYNC2H1):c.658G>T (p.Val220Phe)
|
rs1565311011
|
|
NM_001377.3(DYNC2H1):c.6626C>T (p.Thr2209Ile)
|
|
|
NM_001377.3(DYNC2H1):c.6694G>C (p.Asp2232His)
|
rs1555061008
|
|
NM_001377.3(DYNC2H1):c.6740A>G (p.Glu2247Gly)
|
|
|
NM_001377.3(DYNC2H1):c.6755A>G (p.Asp2252Gly)
|
|
|
NM_001377.3(DYNC2H1):c.6775A>G (p.Thr2259Ala)
|
|
|
NM_001377.3(DYNC2H1):c.6799G>A (p.Asp2267Asn)
|
rs2135029173
|
|
NM_001377.3(DYNC2H1):c.6803T>C (p.Met2268Thr)
|
|
|
NM_001377.3(DYNC2H1):c.6820T>G (p.Tyr2274Asp)
|
|
|
NM_001377.3(DYNC2H1):c.6925C>T (p.Arg2309Trp)
|
|
|
NM_001377.3(DYNC2H1):c.6958G>T (p.Ala2320Ser)
|
|
|
NM_001377.3(DYNC2H1):c.6974G>A (p.Arg2325Gln)
|
|
|
NM_001377.3(DYNC2H1):c.7121T>C (p.Leu2374Ser)
|
rs969682915
|
|
NM_001377.3(DYNC2H1):c.713C>G (p.Thr238Arg)
|
|
|
NM_001377.3(DYNC2H1):c.7141G>T (p.Val2381Leu)
|
rs757701499
|
|
NM_001377.3(DYNC2H1):c.7148C>T (p.Thr2383Met)
|
|
|
NM_001377.3(DYNC2H1):c.719A>G (p.His240Arg)
|
rs749778723
|
|
NM_001377.3(DYNC2H1):c.7216A>G (p.Met2406Val)
|
|
|
NM_001377.3(DYNC2H1):c.7273G>A (p.Val2425Ile)
|
|
|
NM_001377.3(DYNC2H1):c.728A>G (p.Tyr243Cys)
|
|
|
NM_001377.3(DYNC2H1):c.7293-3T>C
|
|
|
NM_001377.3(DYNC2H1):c.72G>A (p.Met24Ile)
|
|
|
NM_001377.3(DYNC2H1):c.731C>T (p.Pro244Leu)
|
rs768145132
|
|
NM_001377.3(DYNC2H1):c.7331C>T (p.Ala2444Val)
|
|
|
NM_001377.3(DYNC2H1):c.7368T>A (p.Asn2456Lys)
|
|
|
NM_001377.3(DYNC2H1):c.7495C>G (p.Leu2499Val)
|
rs878854167
|
|
NM_001377.3(DYNC2H1):c.7562A>C (p.Asp2521Ala)
|
|
|
NM_001377.3(DYNC2H1):c.7726T>C (p.Trp2576Arg)
|
|
|
NM_001377.3(DYNC2H1):c.772T>G (p.Ser258Ala)
|
rs1858479782
|
|
NM_001377.3(DYNC2H1):c.7839G>C (p.Lys2613Asn)
|
rs1325973305
|
|
NM_001377.3(DYNC2H1):c.8011A>G (p.Met2671Val)
|
|
|
NM_001377.3(DYNC2H1):c.8089-3C>A
|
rs1229906788
|
|
NM_001377.3(DYNC2H1):c.8107A>T (p.Ile2703Phe)
|
rs751064079
|
|
NM_001377.3(DYNC2H1):c.8113G>C (p.Ala2705Pro)
|
|
|
NM_001377.3(DYNC2H1):c.8198-3T>C
|
|
|
NM_001377.3(DYNC2H1):c.8225A>G (p.Glu2742Gly)
|
rs989892852
|
|
NM_001377.3(DYNC2H1):c.8243T>C (p.Leu2748Pro)
|
|
|
NM_001377.3(DYNC2H1):c.8309A>G (p.Tyr2770Cys)
|
|
|
NM_001377.3(DYNC2H1):c.8354C>A (p.Ala2785Glu)
|
|
|
NM_001377.3(DYNC2H1):c.8371A>G (p.Ile2791Val)
|
|
|
NM_001377.3(DYNC2H1):c.8504A>T (p.Asp2835Val)
|
rs540042560
|
|
NM_001377.3(DYNC2H1):c.8550T>G (p.Asp2850Glu)
|
rs1863164629
|
|
NM_001377.3(DYNC2H1):c.8593T>C (p.Tyr2865His)
|
|
|
NM_001377.3(DYNC2H1):c.8674A>C (p.Lys2892Gln)
|
|
|
NM_001377.3(DYNC2H1):c.8726C>T (p.Ala2909Val)
|
|
|
NM_001377.3(DYNC2H1):c.8773C>T (p.Leu2925Phe)
|
|
|
NM_001377.3(DYNC2H1):c.8822T>G (p.Val2941Gly)
|
rs923392944
|
|
NM_001377.3(DYNC2H1):c.8834A>T (p.Asp2945Val)
|
rs2135147476
|
|
NM_001377.3(DYNC2H1):c.9019C>T (p.Arg3007Cys)
|
|
|
NM_001377.3(DYNC2H1):c.905C>T (p.Thr302Ile)
|
rs1858489010
|
|
NM_001377.3(DYNC2H1):c.909T>A (p.Gly303=)
|
|
|
NM_001377.3(DYNC2H1):c.9139A>G (p.Ile3047Val)
|
rs2135153656
|
|
NM_001377.3(DYNC2H1):c.9187G>A (p.Val3063Ile)
|
|
|
NM_001377.3(DYNC2H1):c.922C>T (p.Arg308Cys)
|
|
|
NM_001377.3(DYNC2H1):c.9280A>C (p.Lys3094Gln)
|
|
|
NM_001377.3(DYNC2H1):c.9283G>A (p.Ala3095Thr)
|
|
|
NM_001377.3(DYNC2H1):c.9380A>G (p.Lys3127Arg)
|
|
|
NM_001377.3(DYNC2H1):c.938C>G (p.Pro313Arg)
|
|
|
NM_001377.3(DYNC2H1):c.9409G>T (p.Val3137Phe)
|
|
|
NM_001377.3(DYNC2H1):c.9526A>G (p.Ile3176Val)
|
|
|
NM_001377.3(DYNC2H1):c.954A>C (p.Lys318Asn)
|
|
|
NM_001377.3(DYNC2H1):c.9595A>G (p.Thr3199Ala)
|
|
|
NM_001377.3(DYNC2H1):c.962C>G (p.Pro321Arg)
|
|
|
NM_001377.3(DYNC2H1):c.9640C>A (p.Leu3214Ile)
|
|
|
NM_001377.3(DYNC2H1):c.9650C>T (p.Ala3217Val)
|
|
|
NM_001377.3(DYNC2H1):c.9905T>C (p.Val3302Ala)
|
rs1365232282
|
|
NM_001377.3(DYNC2H1):c.9918+3A>G
|
|
|
NM_001377.3(DYNC2H1):c.9948A>C (p.Leu3316Phe)
|
|
|
NM_001377.3(DYNC2H1):c.9983A>C (p.Glu3328Ala)
|
rs1864571633
|
|
NM_001378454.1(ALMS1):c.10004G>A (p.Gly3335Glu)
|
|
|
NM_001378454.1(ALMS1):c.10010A>G (p.Tyr3337Cys)
|
rs1674404167
|
|
NM_001378454.1(ALMS1):c.10012A>C (p.Ser3338Arg)
|
|
|
NM_001378454.1(ALMS1):c.10016A>G (p.Lys3339Arg)
|
|
|
NM_001378454.1(ALMS1):c.10017G>A (p.Lys3339=)
|
|
|
NM_001378454.1(ALMS1):c.10030A>G (p.Lys3344Glu)
|
rs1674404816
|
|
NM_001378454.1(ALMS1):c.1003G>A (p.Asp335Asn)
|
|
|
NM_001378454.1(ALMS1):c.10042C>T (p.Pro3348Ser)
|
|
|
NM_001378454.1(ALMS1):c.10047G>T (p.Val3349=)
|
|
|
NM_001378454.1(ALMS1):c.10064A>G (p.Gln3355Arg)
|
|
|
NM_001378454.1(ALMS1):c.10064A>T (p.Gln3355Leu)
|
|
|
NM_001378454.1(ALMS1):c.10078+14C>T
|
|
|
NM_001378454.1(ALMS1):c.10079-19A>G
|
rs935864365
|
|
NM_001378454.1(ALMS1):c.10082C>A (p.Ala3361Asp)
|
rs1195894910
|
|
NM_001378454.1(ALMS1):c.10093G>T (p.Val3365Leu)
|
rs1316719149
|
|
NM_001378454.1(ALMS1):c.10103C>G (p.Thr3368Ser)
|
rs1270212178
|
|
NM_001378454.1(ALMS1):c.10105G>A (p.Gly3369Arg)
|
|
|
NM_001378454.1(ALMS1):c.10106G>A (p.Gly3369Glu)
|
rs2104057922
|
|
NM_001378454.1(ALMS1):c.10115A>C (p.Asn3372Thr)
|
|
|
NM_001378454.1(ALMS1):c.1012C>T (p.Arg338Cys)
|
rs867586310
|
|
NM_001378454.1(ALMS1):c.10130A>C (p.Lys3377Thr)
|
|
|
NM_001378454.1(ALMS1):c.1013G>A (p.Arg338His)
|
|
|
NM_001378454.1(ALMS1):c.10140G>C (p.Glu3380Asp)
|
rs1045473444
|
|
NM_001378454.1(ALMS1):c.10153_10158dup (p.Ala3386_Val3387insArgAla)
|
|
|
NM_001378454.1(ALMS1):c.10166A>C (p.Glu3389Ala)
|
|
|
NM_001378454.1(ALMS1):c.10177G>T (p.Ala3393Ser)
|
rs145678202
|
|
NM_001378454.1(ALMS1):c.10178C>G (p.Ala3393Gly)
|
rs1231100277
|
|
NM_001378454.1(ALMS1):c.10187A>G (p.Lys3396Arg)
|
|
|
NM_001378454.1(ALMS1):c.10199A>C (p.Gln3400Pro)
|
|
|
NM_001378454.1(ALMS1):c.10204G>T (p.Asp3402Tyr)
|
|
|
NM_001378454.1(ALMS1):c.10208C>G (p.Thr3403Ser)
|
rs1231406875
|
|
NM_001378454.1(ALMS1):c.10210G>T (p.Ala3404Ser)
|
|
|
NM_001378454.1(ALMS1):c.10213G>A (p.Asp3405Asn)
|
|
|
NM_001378454.1(ALMS1):c.10213G>T (p.Asp3405Tyr)
|
rs2104058482
|
|
NM_001378454.1(ALMS1):c.10226C>G (p.Ala3409Gly)
|
|
|
NM_001378454.1(ALMS1):c.1022A>G (p.Asp341Gly)
|
rs762728069
|
|
NM_001378454.1(ALMS1):c.10234G>T (p.Ala3412Ser)
|
rs1454233838
|
|
NM_001378454.1(ALMS1):c.10241A>G (p.His3414Arg)
|
rs1674601435
|
|
NM_001378454.1(ALMS1):c.10244C>T (p.Ser3415Leu)
|
|
|
NM_001378454.1(ALMS1):c.10249C>G (p.Gln3417Glu)
|
|
|
NM_001378454.1(ALMS1):c.10252G>A (p.Val3418Ile)
|
|
|
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del)
|
rs1184260245
|
|
NM_001378454.1(ALMS1):c.10279C>A (p.Pro3427Thr)
|
rs2104063862
|
|
NM_001378454.1(ALMS1):c.10284C>G (p.Asp3428Glu)
|
rs2104063874
|
|
NM_001378454.1(ALMS1):c.10294A>C (p.Ile3432Leu)
|
rs2104063946
|
|
NM_001378454.1(ALMS1):c.10304A>T (p.Lys3435Ile)
|
|
|
NM_001378454.1(ALMS1):c.10308G>A (p.Glu3436=)
|
|
|
NM_001378454.1(ALMS1):c.10313T>C (p.Ile3438Thr)
|
rs1674603162
|
|
NM_001378454.1(ALMS1):c.10316A>G (p.His3439Arg)
|
rs139425340
|
|
NM_001378454.1(ALMS1):c.10326G>C (p.Lys3442Asn)
|
|
|
NM_001378454.1(ALMS1):c.10330G>A (p.Val3444Ile)
|
|
|
NM_001378454.1(ALMS1):c.10334_10335delinsTA (p.Pro3445Leu)
|
|
|
NM_001378454.1(ALMS1):c.10336G>A (p.Glu3446Lys)
|
|
|
NM_001378454.1(ALMS1):c.10353C>A (p.Asn3451Lys)
|
rs1209953727
|
|
NM_001378454.1(ALMS1):c.10358A>G (p.Lys3453Arg)
|
|
|
NM_001378454.1(ALMS1):c.10375A>C (p.Asn3459His)
|
|
|
NM_001378454.1(ALMS1):c.10375A>G (p.Asn3459Asp)
|
rs773439063
|
|
NM_001378454.1(ALMS1):c.10377T>A (p.Asn3459Lys)
|
rs2104064364
|
|
NM_001378454.1(ALMS1):c.10378A>G (p.Ile3460Val)
|
|
|
NM_001378454.1(ALMS1):c.10381G>A (p.Glu3461Lys)
|
|
|
NM_001378454.1(ALMS1):c.10384+2dup
|
rs1255846889
|
|
NM_001378454.1(ALMS1):c.10384+4A>G
|
rs2104064401
|
|
NM_001378454.1(ALMS1):c.10385-16T>A
|
|
|
NM_001378454.1(ALMS1):c.10412A>C (p.Asn3471Thr)
|
rs2104103500
|
|
NM_001378454.1(ALMS1):c.10417A>T (p.Thr3473Ser)
|
rs2104103542
|
|
NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His)
|
|
|
NM_001378454.1(ALMS1):c.10424C>G (p.Ser3475Cys)
|
|
|
NM_001378454.1(ALMS1):c.10443G>C (p.Lys3481Asn)
|
|
|
NM_001378454.1(ALMS1):c.10448A>G (p.Tyr3483Cys)
|
rs2104103714
|
|
NM_001378454.1(ALMS1):c.10460C>T (p.Pro3487Leu)
|
rs1674947337
|
|
NM_001378454.1(ALMS1):c.10462G>A (p.Val3488Ile)
|
|
|
NM_001378454.1(ALMS1):c.10474A>G (p.Ser3492Gly)
|
|
|
NM_001378454.1(ALMS1):c.10481A>G (p.Gln3494Arg)
|
rs1553418430
|
|
NM_001378454.1(ALMS1):c.10483G>A (p.Asp3495Asn)
|
rs533617405
|
|
NM_001378454.1(ALMS1):c.10490G>A (p.Cys3497Tyr)
|
|
|
NM_001378454.1(ALMS1):c.10490G>C (p.Cys3497Ser)
|
|
|
NM_001378454.1(ALMS1):c.104_106dup (p.Ala35_Asn36insThr)
|
|
|
NM_001378454.1(ALMS1):c.10510A>G (p.Ser3504Gly)
|
rs45585940
|
|
NM_001378454.1(ALMS1):c.10511G>A (p.Ser3504Asn)
|
rs1558699257
|
|
NM_001378454.1(ALMS1):c.10519A>G (p.Met3507Val)
|
rs1350031802
|
|
NM_001378454.1(ALMS1):c.10537G>T (p.Asp3513Tyr)
|
rs1674949916
|
|
NM_001378454.1(ALMS1):c.10558G>C (p.Asp3520His)
|
rs1403094265
|
|
NM_001378454.1(ALMS1):c.10562A>G (p.Lys3521Arg)
|
|
|
NM_001378454.1(ALMS1):c.10565A>G (p.His3522Arg)
|
|
|
NM_001378454.1(ALMS1):c.10575C>A (p.His3525Gln)
|
rs1674954136
|
|
NM_001378454.1(ALMS1):c.10578G>C (p.Met3526Ile)
|
|
|
NM_001378454.1(ALMS1):c.10588C>G (p.Leu3530Val)
|
|
|
NM_001378454.1(ALMS1):c.10588C>T (p.Leu3530Phe)
|
rs781331448
|
|
NM_001378454.1(ALMS1):c.10592C>G (p.Pro3531Arg)
|
rs2104104344
|
|
NM_001378454.1(ALMS1):c.10602C>T (p.Asn3534=)
|
|
|
NM_001378454.1(ALMS1):c.10603A>G (p.Met3535Val)
|
rs769907792
|
|
NM_001378454.1(ALMS1):c.10607A>G (p.Asp3536Gly)
|
|
|
NM_001378454.1(ALMS1):c.10612A>G (p.Thr3538Ala)
|
rs1225039531
|
|
NM_001378454.1(ALMS1):c.10613C>T (p.Thr3538Ile)
|
|
|
NM_001378454.1(ALMS1):c.10616A>C (p.Lys3539Thr)
|
rs1223712611
|
|
NM_001378454.1(ALMS1):c.10621G>A (p.Asp3541Asn)
|
|
|
NM_001378454.1(ALMS1):c.10625A>T (p.Tyr3542Phe)
|
|
|
NM_001378454.1(ALMS1):c.1062A>T (p.Thr354=)
|
|
|
NM_001378454.1(ALMS1):c.10641C>G (p.Ser3547Arg)
|
rs893243465
|
|
NM_001378454.1(ALMS1):c.10643T>A (p.Leu3548His)
|
rs1674958037
|
|
NM_001378454.1(ALMS1):c.1064A>G (p.Gln355Arg)
|
|
|
NM_001378454.1(ALMS1):c.10652A>G (p.Asn3551Ser)
|
rs868744829
|
|
NM_001378454.1(ALMS1):c.10668C>G (p.Asn3556Lys)
|
|
|
NM_001378454.1(ALMS1):c.10679T>C (p.Met3560Thr)
|
rs752203028
|
|
NM_001378454.1(ALMS1):c.10679T>G (p.Met3560Arg)
|
rs752203028
|
|
NM_001378454.1(ALMS1):c.10685C>G (p.Thr3562Ser)
|
rs1674959661
|
|
NM_001378454.1(ALMS1):c.10693A>T (p.Ser3565Cys)
|
|
|
NM_001378454.1(ALMS1):c.1069C>A (p.Pro357Thr)
|
rs2103715581
|
|
NM_001378454.1(ALMS1):c.10703G>C (p.Arg3568Thr)
|
|
|
NM_001378454.1(ALMS1):c.10709A>G (p.Tyr3570Cys)
|
rs2104104820
|
|
NM_001378454.1(ALMS1):c.10721A>G (p.Asn3574Ser)
|
|
|
NM_001378454.1(ALMS1):c.10733G>A (p.Ser3578Asn)
|
|
|
NM_001378454.1(ALMS1):c.10736A>G (p.Asp3579Gly)
|
|
|
NM_001378454.1(ALMS1):c.10750C>G (p.Gln3584Glu)
|
|
|
NM_001378454.1(ALMS1):c.10753_10755del (p.Lys3585del)
|
|
|
NM_001378454.1(ALMS1):c.10759A>G (p.Thr3587Ala)
|
|
|
NM_001378454.1(ALMS1):c.10768C>G (p.Gln3590Glu)
|
rs1674961683
|
|
NM_001378454.1(ALMS1):c.10771A>G (p.Thr3591Ala)
|
|
|
NM_001378454.1(ALMS1):c.10772C>T (p.Thr3591Ile)
|
rs773091397
|
|
NM_001378454.1(ALMS1):c.10778A>G (p.Gln3593Arg)
|
|
|
NM_001378454.1(ALMS1):c.10792T>G (p.Leu3598Val)
|
|
|
NM_001378454.1(ALMS1):c.10808A>G (p.Asn3603Ser)
|
|
|
NM_001378454.1(ALMS1):c.10819G>A (p.Glu3607Lys)
|
|
|
NM_001378454.1(ALMS1):c.10822C>G (p.Arg3608Gly)
|
|
|
NM_001378454.1(ALMS1):c.10827G>C (p.Gln3609His)
|
rs2104105279
|
|
NM_001378454.1(ALMS1):c.10842G>T (p.Gln3614His)
|
|
|
NM_001378454.1(ALMS1):c.10853G>A (p.Gly3618Asp)
|
|
|
NM_001378454.1(ALMS1):c.10868T>C (p.Leu3623Pro)
|
|
|
NM_001378454.1(ALMS1):c.10873T>A (p.Leu3625Met)
|
|
|
NM_001378454.1(ALMS1):c.10885C>T (p.Leu3629Phe)
|
|
|
NM_001378454.1(ALMS1):c.10886T>C (p.Leu3629Pro)
|
|
|
NM_001378454.1(ALMS1):c.10903A>G (p.Ile3635Val)
|
rs1674966271
|
|
NM_001378454.1(ALMS1):c.10906C>A (p.Leu3636Ile)
|
rs1573030520
|
|
NM_001378454.1(ALMS1):c.10907T>C (p.Leu3636Pro)
|
rs2104105685
|
|
NM_001378454.1(ALMS1):c.10909C>G (p.Gln3637Glu)
|
rs754108525
|
|
NM_001378454.1(ALMS1):c.10918A>G (p.Ile3640Val)
|
|
|
NM_001378454.1(ALMS1):c.10925A>G (p.His3642Arg)
|
rs1240495775
|
|
NM_001378454.1(ALMS1):c.10930C>G (p.Leu3644Val)
|
rs1060500033
|
|
NM_001378454.1(ALMS1):c.1093G>T (p.Asp365Tyr)
|
rs1229379546
|
|
NM_001378454.1(ALMS1):c.10942G>A (p.Glu3648Lys)
|
rs397514576
|
|
NM_001378454.1(ALMS1):c.10946G>A (p.Ser3649Asn)
|
rs2104105859
|
|
NM_001378454.1(ALMS1):c.10951C>T (p.His3651Tyr)
|
|
|
NM_001378454.1(ALMS1):c.10952A>G (p.His3651Arg)
|
rs1294645835
|
|
NM_001378454.1(ALMS1):c.10966G>A (p.Gly3656Arg)
|
rs1674968038
|
|
NM_001378454.1(ALMS1):c.1097A>G (p.Gln366Arg)
|
rs2103715685
|
|
NM_001378454.1(ALMS1):c.10987T>G (p.Trp3663Gly)
|
rs748921342
|
|
NM_001378454.1(ALMS1):c.10994G>T (p.Gly3665Val)
|
|
|
NM_001378454.1(ALMS1):c.11006A>G (p.Gln3669Arg)
|
rs773767346
|
|
NM_001378454.1(ALMS1):c.11009G>C (p.Arg3670Thr)
|
rs1674969661
|
|
NM_001378454.1(ALMS1):c.11028G>T (p.Lys3676Asn)
|
|
|
NM_001378454.1(ALMS1):c.1102T>G (p.Ser368Ala)
|
|
|
NM_001378454.1(ALMS1):c.11044C>G (p.Leu3682Val)
|
rs1674970712
|
|
NM_001378454.1(ALMS1):c.11045_11056del (p.Leu3682_Ser3685del)
|
rs757734472
|
|
NM_001378454.1(ALMS1):c.11057A>G (p.His3686Arg)
|
rs912853018
|
|
NM_001378454.1(ALMS1):c.11057A>T (p.His3686Leu)
|
|
|
NM_001378454.1(ALMS1):c.11066C>T (p.Thr3689Ile)
|
|
|
NM_001378454.1(ALMS1):c.1106T>C (p.Val369Ala)
|
|
|
NM_001378454.1(ALMS1):c.11084G>A (p.Ser3695Asn)
|
rs780014956
|
|
NM_001378454.1(ALMS1):c.11091G>A (p.Val3697=)
|
|
|
NM_001378454.1(ALMS1):c.11099ATC[1] (p.His3701del)
|
rs1426150645
|
|
NM_001378454.1(ALMS1):c.110T>G (p.Val37Gly)
|
|
|
NM_001378454.1(ALMS1):c.11105G>T (p.Arg3702Leu)
|
|
|
NM_001378454.1(ALMS1):c.11107G>T (p.Ala3703Ser)
|
|
|
NM_001378454.1(ALMS1):c.11115G>T (p.Arg3705Ser)
|
rs2104106559
|
|
NM_001378454.1(ALMS1):c.11119A>C (p.Asn3707His)
|
rs200464290
|
|
NM_001378454.1(ALMS1):c.11119A>G (p.Asn3707Asp)
|
|
|
NM_001378454.1(ALMS1):c.11127T>G (p.Ile3709Met)
|
rs2104106623
|
|
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val)
|
rs370536187
|
|
NM_001378454.1(ALMS1):c.11150A>G (p.Asp3717Gly)
|
|
|
NM_001378454.1(ALMS1):c.11164A>G (p.Ser3722Gly)
|
rs2104106753
|
|
NM_001378454.1(ALMS1):c.11177G>A (p.Gly3726Asp)
|
|
|
NM_001378454.1(ALMS1):c.11200T>A (p.Ser3734Thr)
|
rs1209512957
|
|
NM_001378454.1(ALMS1):c.11201C>A (p.Ser3734Tyr)
|
|
|
NM_001378454.1(ALMS1):c.11204C>G (p.Ser3735Trp)
|
|
|
NM_001378454.1(ALMS1):c.11206G>C (p.Asp3736His)
|
|
|
NM_001378454.1(ALMS1):c.11207A>G (p.Asp3736Gly)
|
|
|
NM_001378454.1(ALMS1):c.11212C>T (p.Arg3738Trp)
|
|
|
NM_001378454.1(ALMS1):c.11213G>C (p.Arg3738Pro)
|
|
|
NM_001378454.1(ALMS1):c.11225A>T (p.Glu3742Val)
|
rs1674978014
|
|
NM_001378454.1(ALMS1):c.1123A>G (p.Ile375Val)
|
|
|
NM_001378454.1(ALMS1):c.11240C>G (p.Thr3747Arg)
|
rs2104107105
|
|
NM_001378454.1(ALMS1):c.11246C>A (p.Thr3749Asn)
|
|
|
NM_001378454.1(ALMS1):c.11246C>G (p.Thr3749Ser)
|
|
|
NM_001378454.1(ALMS1):c.11251A>G (p.Thr3751Ala)
|
|
|
NM_001378454.1(ALMS1):c.11254A>C (p.Asn3752His)
|
rs777251736
|
|
NM_001378454.1(ALMS1):c.11260C>G (p.Leu3754Val)
|
|
|
NM_001378454.1(ALMS1):c.11263T>A (p.Ser3755Thr)
|
rs878854995
|
|
NM_001378454.1(ALMS1):c.11268CAC[1] (p.Thr3758del)
|
|
|
NM_001378454.1(ALMS1):c.1126A>C (p.Thr376Pro)
|
rs376750978
|
|
NM_001378454.1(ALMS1):c.11272A>G (p.Thr3758Ala)
|
|
|
NM_001378454.1(ALMS1):c.11278_11280del (p.Thr3760del)
|
|
|
NM_001378454.1(ALMS1):c.11279C>G (p.Thr3760Ser)
|
rs370381761
|
|
NM_001378454.1(ALMS1):c.11282T>A (p.Val3761Asp)
|
|
|
NM_001378454.1(ALMS1):c.11308G>T (p.Asp3770Tyr)
|
|
|
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly)
|
rs770147613
|
|
NM_001378454.1(ALMS1):c.11319G>A (p.Val3773=)
|
|
|
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val)
|
rs771595125
|
|
NM_001378454.1(ALMS1):c.11327A>C (p.His3776Pro)
|
|
|
NM_001378454.1(ALMS1):c.11328C>G (p.His3776Gln)
|
rs45596541
|
|
NM_001378454.1(ALMS1):c.11332A>T (p.Arg3778Trp)
|
rs773130069
|
|
NM_001378454.1(ALMS1):c.11339G>T (p.Ser3780Ile)
|
rs1674982019
|
|
NM_001378454.1(ALMS1):c.11340C>A (p.Ser3780Arg)
|
rs2104107651
|
|
NM_001378454.1(ALMS1):c.11341T>C (p.Ser3781Pro)
|
|
|
NM_001378454.1(ALMS1):c.11354T>C (p.Ile3785Thr)
|
|
|
NM_001378454.1(ALMS1):c.11363C>G (p.Ala3788Gly)
|
|
|
NM_001378454.1(ALMS1):c.11366G>A (p.Arg3789Gln)
|
rs1167052698
|
|
NM_001378454.1(ALMS1):c.11372T>C (p.Ile3791Thr)
|
|
|
NM_001378454.1(ALMS1):c.11373T>G (p.Ile3791Met)
|
rs758244336
|
|
NM_001378454.1(ALMS1):c.11377G>T (p.Ala3793Ser)
|
|
|
NM_001378454.1(ALMS1):c.11378C>G (p.Ala3793Gly)
|
|
|
NM_001378454.1(ALMS1):c.1138A>G (p.Ile380Val)
|
|
|
NM_001378454.1(ALMS1):c.11392A>G (p.Arg3798Gly)
|
rs1674983774
|
|
NM_001378454.1(ALMS1):c.11393G>C (p.Arg3798Thr)
|
rs1006564458
|
|
NM_001378454.1(ALMS1):c.11398T>C (p.Cys3800Arg)
|
|
|
NM_001378454.1(ALMS1):c.11405C>T (p.Ser3802Leu)
|
|
|
NM_001378454.1(ALMS1):c.11408C>G (p.Pro3803Arg)
|
rs2104108029
|
|
NM_001378454.1(ALMS1):c.11411G>A (p.Arg3804Lys)
|
rs201028172
|
|
NM_001378454.1(ALMS1):c.11429G>A (p.Ser3810Asn)
|
|
|
NM_001378454.1(ALMS1):c.11430C>A (p.Ser3810Arg)
|
|
|
NM_001378454.1(ALMS1):c.11432G>A (p.Ser3811Asn)
|
|
|
NM_001378454.1(ALMS1):c.11434A>C (p.Ile3812Leu)
|
|
|
NM_001378454.1(ALMS1):c.11438C>G (p.Thr3813Ser)
|
rs1183268252
|
|
NM_001378454.1(ALMS1):c.11441A>G (p.Asn3814Ser)
|
rs763907736
|
|
NM_001378454.1(ALMS1):c.11450G>A (p.Arg3817Lys)
|
rs909204912
|
|
NM_001378454.1(ALMS1):c.11455T>A (p.Tyr3819Asn)
|
rs761539239
|
|
NM_001378454.1(ALMS1):c.1147A>G (p.Lys383Glu)
|
rs1671348306
|
|
NM_001378454.1(ALMS1):c.11481C>T (p.Ser3827=)
|
rs549156484
|
|
NM_001378454.1(ALMS1):c.11498C>T (p.Thr3833Ile)
|
rs776648380
|
|
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=)
|
rs374164508
|
|
NM_001378454.1(ALMS1):c.11515A>G (p.Thr3839Ala)
|
rs761578558
|
|
NM_001378454.1(ALMS1):c.11521G>A (p.Glu3841Lys)
|
|
|
NM_001378454.1(ALMS1):c.11546A>G (p.Gln3849Arg)
|
rs1674988399
|
|
NM_001378454.1(ALMS1):c.11547+5A>G
|
|
|
NM_001378454.1(ALMS1):c.11547+6T>C
|
|
|
NM_001378454.1(ALMS1):c.11548-12_11548-11del
|
rs767458195
|
|
NM_001378454.1(ALMS1):c.11548-8T>C
|
|
|
NM_001378454.1(ALMS1):c.11548G>T (p.Val3850Leu)
|
|
|
NM_001378454.1(ALMS1):c.11551G>A (p.Ala3851Thr)
|
rs1454003034
|
|
NM_001378454.1(ALMS1):c.11559T>A (p.His3853Gln)
|
rs186141821
|
|
NM_001378454.1(ALMS1):c.11559T>G (p.His3853Gln)
|
rs186141821
|
|
NM_001378454.1(ALMS1):c.11596A>G (p.Ser3866Gly)
|
rs2104188910
|
|
NM_001378454.1(ALMS1):c.115G>A (p.Asp39Asn)
|
|
|
NM_001378454.1(ALMS1):c.115G>T (p.Asp39Tyr)
|
rs2104058286
|
|
NM_001378454.1(ALMS1):c.11601C>G (p.Phe3867Leu)
|
rs80009262
|
|
NM_001378454.1(ALMS1):c.11612A>T (p.Asn3871Ile)
|
|
|
NM_001378454.1(ALMS1):c.11641C>G (p.His3881Asp)
|
|
|
NM_001378454.1(ALMS1):c.11645T>C (p.Met3882Thr)
|
|
|
NM_001378454.1(ALMS1):c.11646_11648dup (p.Leu3883dup)
|
rs1468861836
|
|
NM_001378454.1(ALMS1):c.1165G>C (p.Asp389His)
|
rs1671348747
|
|
NM_001378454.1(ALMS1):c.11662C>G (p.Gln3888Glu)
|
rs541024346
|
|
NM_001378454.1(ALMS1):c.11665G>A (p.Ala3889Thr)
|
|
|
NM_001378454.1(ALMS1):c.11667A>G (p.Ala3889=)
|
rs767848384
|
|
NM_001378454.1(ALMS1):c.11668+3A>G
|
rs2104189383
|
|
NM_001378454.1(ALMS1):c.11688C>A (p.Asn3896Lys)
|
|
|
NM_001378454.1(ALMS1):c.11690G>A (p.Gly3897Asp)
|
|
|
NM_001378454.1(ALMS1):c.11695A>G (p.Lys3899Glu)
|
|
|
NM_001378454.1(ALMS1):c.11700A>C (p.Lys3900Asn)
|
rs1224532344
|
|
NM_001378454.1(ALMS1):c.11710G>T (p.Asp3904Tyr)
|
|
|
NM_001378454.1(ALMS1):c.11711A>G (p.Asp3904Gly)
|
|
|
NM_001378454.1(ALMS1):c.11714T>C (p.Val3905Ala)
|
|
|
NM_001378454.1(ALMS1):c.11726T>C (p.Phe3909Ser)
|
|
|
NM_001378454.1(ALMS1):c.11743A>C (p.Ser3915Arg)
|
|
|
NM_001378454.1(ALMS1):c.11747A>G (p.Glu3916Gly)
|
rs2104193436
|
|
NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser)
|
rs3813227
|
|
NM_001378454.1(ALMS1):c.11755T>G (p.Leu3919Val)
|
rs750372739
|
|
NM_001378454.1(ALMS1):c.11756T>G (p.Leu3919Trp)
|
|
|
NM_001378454.1(ALMS1):c.11766C>G (p.Asn3922Lys)
|
rs2104193506
|
|
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu)
|
rs45576434
|
|
NM_001378454.1(ALMS1):c.11802A>C (p.Glu3934Asp)
|
|
|
NM_001378454.1(ALMS1):c.11821G>T (p.Gly3941Cys)
|
rs61741524
|
|
NM_001378454.1(ALMS1):c.11827C>G (p.Pro3943Ala)
|
|
|
NM_001378454.1(ALMS1):c.11840A>G (p.Lys3947Arg)
|
|
|
NM_001378454.1(ALMS1):c.11849A>C (p.Lys3950Thr)
|
rs2104194109
|
|
NM_001378454.1(ALMS1):c.11850G>T (p.Lys3950Asn)
|
|
|
NM_001378454.1(ALMS1):c.11853C>A (p.Asn3951Lys)
|
|
|
NM_001378454.1(ALMS1):c.11853C>G (p.Asn3951Lys)
|
rs577759803
|
|
NM_001378454.1(ALMS1):c.11854A>C (p.Lys3952Gln)
|
rs771282076
|
|
NM_001378454.1(ALMS1):c.11863T>C (p.Ser3955Pro)
|
|
|
NM_001378454.1(ALMS1):c.11867A>C (p.His3956Pro)
|
|
|
NM_001378454.1(ALMS1):c.11873-13_11873-12delinsAC
|
|
|
NM_001378454.1(ALMS1):c.11873-8T>G
|
rs2104195252
|
|
NM_001378454.1(ALMS1):c.1187A>T (p.Gln396Leu)
|
|
|
NM_001378454.1(ALMS1):c.11881T>C (p.Trp3961Arg)
|
rs774496480
|
|
NM_001378454.1(ALMS1):c.11887G>A (p.Val3963Ile)
|
|
|
NM_001378454.1(ALMS1):c.11890C>T (p.Pro3964Ser)
|
|
|
NM_001378454.1(ALMS1):c.11895G>A (p.Val3965=)
|
rs2104195453
|
|
NM_001378454.1(ALMS1):c.11908T>C (p.Ser3970Pro)
|
rs200170158
|
|
NM_001378454.1(ALMS1):c.11923G>A (p.Glu3975Lys)
|
|
|
NM_001378454.1(ALMS1):c.11928C>A (p.Asn3976Lys)
|
|
|
NM_001378454.1(ALMS1):c.11948C>G (p.Pro3983Arg)
|
|
|
NM_001378454.1(ALMS1):c.11948C>T (p.Pro3983Leu)
|
rs754031448
|
|
NM_001378454.1(ALMS1):c.11963T>C (p.Phe3988Ser)
|
|
|
NM_001378454.1(ALMS1):c.11964T>G (p.Phe3988Leu)
|
rs2104195845
|
|
NM_001378454.1(ALMS1):c.11971A>C (p.Ile3991Leu)
|
|
|
NM_001378454.1(ALMS1):c.11971A>T (p.Ile3991Leu)
|
|
|
NM_001378454.1(ALMS1):c.11980A>G (p.Thr3994Ala)
|
|
|
NM_001378454.1(ALMS1):c.11998C>T (p.Pro4000Ser)
|
rs767061718
|
|
NM_001378454.1(ALMS1):c.12010C>G (p.Gln4004Glu)
|
rs2104196109
|
|
NM_001378454.1(ALMS1):c.12022G>C (p.Gly4008Arg)
|
|
|
NM_001378454.1(ALMS1):c.1202A>G (p.Glu401Gly)
|
|
|
NM_001378454.1(ALMS1):c.12036C>A (p.Asp4012Glu)
|
rs370981817
|
|
NM_001378454.1(ALMS1):c.12041G>A (p.Arg4014Gln)
|
rs768365250
|
|
NM_001378454.1(ALMS1):c.12047A>G (p.Tyr4016Cys)
|
|
|
NM_001378454.1(ALMS1):c.12062G>A (p.Gly4021Asp)
|
|
|
NM_001378454.1(ALMS1):c.12068A>G (p.Glu4023Gly)
|
|
|
NM_001378454.1(ALMS1):c.12071C>A (p.Ala4024Asp)
|
rs372211401
|
|
NM_001378454.1(ALMS1):c.12104C>T (p.Ala4035Val)
|
|
|
NM_001378454.1(ALMS1):c.12115-13_12115-3del
|
|
|
NM_001378454.1(ALMS1):c.12115-3T>A
|
|
|
NM_001378454.1(ALMS1):c.1211C>G (p.Ser404Cys)
|
|
|
NM_001378454.1(ALMS1):c.12121C>T (p.Leu4041Phe)
|
rs1313847991
|
|
NM_001378454.1(ALMS1):c.12131A>C (p.His4044Pro)
|
rs993631169
|
|
NM_001378454.1(ALMS1):c.12137C>G (p.Pro4046Arg)
|
|
|
NM_001378454.1(ALMS1):c.12142T>A (p.Phe4048Ile)
|
rs1675709581
|
|
NM_001378454.1(ALMS1):c.12152G>T (p.Arg4051Leu)
|
rs750598025
|
|
NM_001378454.1(ALMS1):c.12152_12155delinsACAT (p.Arg4051_Ser4052delinsHisIle)
|
rs1675710118
|
|
NM_001378454.1(ALMS1):c.12155C>T (p.Ser4052Phe)
|
rs1190081649
|
|
NM_001378454.1(ALMS1):c.12157G>A (p.Gly4053Arg)
|
rs2104199532
|
|
NM_001378454.1(ALMS1):c.12159G>C (p.Gly4053=)
|
|
|
NM_001378454.1(ALMS1):c.12159G>T (p.Gly4053=)
|
rs2104199548
|
|
NM_001378454.1(ALMS1):c.12163C>G (p.Arg4055Gly)
|
|
|
NM_001378454.1(ALMS1):c.12163C>T (p.Arg4055Trp)
|
rs569696567
|
|
NM_001378454.1(ALMS1):c.12173G>T (p.Arg4058Leu)
|
|
|
NM_001378454.1(ALMS1):c.12179A>G (p.Lys4060Arg)
|
|
|
NM_001378454.1(ALMS1):c.12185T>C (p.Ile4062Thr)
|
|
|
NM_001378454.1(ALMS1):c.12187G>C (p.Val4063Leu)
|
|
|
NM_001378454.1(ALMS1):c.12191A>G (p.Gln4064Arg)
|
rs2104199743
|
|
NM_001378454.1(ALMS1):c.12194A>G (p.Glu4065Gly)
|
|
|
NM_001378454.1(ALMS1):c.1219G>A (p.Ala407Thr)
|
rs2103716227
|
|
NM_001378454.1(ALMS1):c.121G>A (p.Val41Met)
|
|
|
NM_001378454.1(ALMS1):c.12202C>A (p.Leu4068Met)
|
|
|
NM_001378454.1(ALMS1):c.12215T>C (p.Leu4072Ser)
|
rs2104199857
|
|
NM_001378454.1(ALMS1):c.12217C>G (p.Gln4073Glu)
|
rs774835325
|
|
NM_001378454.1(ALMS1):c.12219G>T (p.Gln4073His)
|
rs878854996
|
|
NM_001378454.1(ALMS1):c.12223G>A (p.Glu4075Lys)
|
|
|
NM_001378454.1(ALMS1):c.12238T>C (p.Phe4080Leu)
|
rs2104200019
|
|
NM_001378454.1(ALMS1):c.12241A>C (p.Asn4081His)
|
rs1398267811
|
|
NM_001378454.1(ALMS1):c.12265C>A (p.His4089Asn)
|
rs2104200202
|
|
NM_001378454.1(ALMS1):c.1226C>G (p.Thr409Arg)
|
|
|
NM_001378454.1(ALMS1):c.12276C>T (p.Arg4092=)
|
|
|
NM_001378454.1(ALMS1):c.12298+3A>G
|
|
|
NM_001378454.1(ALMS1):c.12298+4C>T
|
|
|
NM_001378454.1(ALMS1):c.12298+6C>A
|
|
|
NM_001378454.1(ALMS1):c.12299-3T>C
|
rs1553422034
|
|
NM_001378454.1(ALMS1):c.12305T>A (p.Leu4102Gln)
|
|
|
NM_001378454.1(ALMS1):c.12314A>C (p.Gln4105Pro)
|
|
|
NM_001378454.1(ALMS1):c.12316A>G (p.Lys4106Glu)
|
|
|
NM_001378454.1(ALMS1):c.12322A>G (p.Lys4108Glu)
|
|
|
NM_001378454.1(ALMS1):c.12328A>G (p.Ile4110Val)
|
|
|
NM_001378454.1(ALMS1):c.12342A>C (p.Glu4114Asp)
|
|
|
NM_001378454.1(ALMS1):c.12346A>T (p.Ile4116Phe)
|
|
|
NM_001378454.1(ALMS1):c.1234A>G (p.Thr412Ala)
|
|
|
NM_001378454.1(ALMS1):c.12359A>G (p.Lys4120Arg)
|
|
|
NM_001378454.1(ALMS1):c.12360A>T (p.Lys4120Asn)
|
rs2104203046
|
|
NM_001378454.1(ALMS1):c.12361C>T (p.Arg4121Trp)
|
|
|
NM_001378454.1(ALMS1):c.12362+3A>G
|
|
|
NM_001378454.1(ALMS1):c.1236C>T (p.Thr412=)
|
|
|
NM_001378454.1(ALMS1):c.1237+4A>G
|
rs747868844
|
|
NM_001378454.1(ALMS1):c.1238-12C>T
|
|
|
NM_001378454.1(ALMS1):c.1238-13T>A
|
|
|
NM_001378454.1(ALMS1):c.12382G>A (p.Glu4128Lys)
|
|
|
NM_001378454.1(ALMS1):c.12389A>T (p.Gln4130Leu)
|
rs371587051
|
|
NM_001378454.1(ALMS1):c.12394A>C (p.Lys4132Gln)
|
|
|
NM_001378454.1(ALMS1):c.12394_12397del (p.Lys4132fs)
|
rs776401197
|
|
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs)
|
rs761223068
|
|
NM_001378454.1(ALMS1):c.12399AGA[2] (p.Glu4136del)
|
rs764575993
|
|
NM_001378454.1(ALMS1):c.123_124delinsCA (p.Val42Ile)
|
rs1670514979
|
|
NM_001378454.1(ALMS1):c.12411_12415del (p.Arg4138fs)
|
rs2104216255
|
|
NM_001378454.1(ALMS1):c.12416A>C (p.Lys4139Thr)
|
|
|
NM_001378454.1(ALMS1):c.12417A>T (p.Lys4139Asn)
|
|
|
NM_001378454.1(ALMS1):c.12424T>C (p.Tyr4142His)
|
rs954710649
|
|
NM_001378454.1(ALMS1):c.12425A>T (p.Tyr4142Phe)
|
rs775032572
|
|
NM_001378454.1(ALMS1):c.12437G>A (p.Arg4146Gln)
|
|
|
NM_001378454.1(ALMS1):c.12443G>A (p.Arg4148Gln)
|
|
|
NM_001378454.1(ALMS1):c.1244T>C (p.Leu415Pro)
|
|
|
NM_001378454.1(ALMS1):c.12455A>T (p.Tyr4152Phe)
|
|
|
NM_001378454.1(ALMS1):c.1245G>C (p.Leu415=)
|
|
|
NM_001378454.1(ALMS1):c.12460_12461del (p.Lys4154fs)
|
|
|
NM_001378454.1(ALMS1):c.12461del (p.Lys4154fs)
|
rs1553422659
|
|
NM_001378454.1(ALMS1):c.12462+1G>T
|
|
|
NM_001378454.1(ALMS1):c.12462+1del
|
rs750907119
|
|
NM_001378454.1(ALMS1):c.12462+5G>A
|
rs1553422678
|
|
NM_001378454.1(ALMS1):c.12462+6T>C
|
rs2104216517
|
|
NM_001378454.1(ALMS1):c.12463-1G>C
|
|
|
NM_001378454.1(ALMS1):c.12466G>A (p.Val4156Met)
|
|
|
NM_001378454.1(ALMS1):c.1247A>G (p.Gln416Arg)
|
rs777072028
|
|
NM_001378454.1(ALMS1):c.1249G>A (p.Gly417Arg)
|
|
|
NM_001378454.1(ALMS1):c.12507A>G (p.Ter4169Trp)
|
|
|
NM_001378454.1(ALMS1):c.1254G>A (p.Lys418=)
|
|
|
NM_001378454.1(ALMS1):c.1254G>T (p.Lys418Asn)
|
|
|
NM_001378454.1(ALMS1):c.1255G>T (p.Val419Phe)
|
rs1671381064
|
|
NM_001378454.1(ALMS1):c.1256T>G (p.Val419Gly)
|
|
|
NM_001378454.1(ALMS1):c.1259A>C (p.Glu420Ala)
|
|
|
NM_001378454.1(ALMS1):c.125T>A (p.Val42Asp)
|
rs1337322908
|
|
NM_001378454.1(ALMS1):c.1266C>A (p.Asp422Glu)
|
rs1396189205
|
|
NM_001378454.1(ALMS1):c.1267G>C (p.Val423Leu)
|
rs45630557
|
|
NM_001378454.1(ALMS1):c.1297G>T (p.Ala433Ser)
|
rs751744947
|
|
NM_001378454.1(ALMS1):c.1313A>C (p.Glu438Ala)
|
rs753799992
|
|
NM_001378454.1(ALMS1):c.1336A>C (p.Lys446Gln)
|
|
|
NM_001378454.1(ALMS1):c.1338+3G>A
|
|
|
NM_001378454.1(ALMS1):c.1339-16A>T
|
|
|
NM_001378454.1(ALMS1):c.133G>A (p.Glu45Lys)
|
|
|
NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg)
|
rs774335945
|
|
NM_001378454.1(ALMS1):c.1343C>T (p.Thr448Ile)
|
|
|
NM_001378454.1(ALMS1):c.1352C>T (p.Ser451Leu)
|
|
|
NM_001378454.1(ALMS1):c.135G>T (p.Glu45Asp)
|
|
|
NM_001378454.1(ALMS1):c.135_143del (p.43VEE[1])
|
|
|
NM_001378454.1(ALMS1):c.135_143dup (p.Glu48_Glu49insValGluGlu)
|
|
|
NM_001378454.1(ALMS1):c.1360C>T (p.His454Tyr)
|
|
|
NM_001378454.1(ALMS1):c.1364C>G (p.Ser455Cys)
|
|
|
NM_001378454.1(ALMS1):c.1369G>T (p.Asp457Tyr)
|
rs1671513924
|
|
NM_001378454.1(ALMS1):c.137T>C (p.Val46Ala)
|
|
|
NM_001378454.1(ALMS1):c.1386G>T (p.Arg462Ser)
|
rs749794703
|
|
NM_001378454.1(ALMS1):c.1393C>T (p.Pro465Ser)
|
|
|
NM_001378454.1(ALMS1):c.141G>A (p.Glu47=)
|
|
|
NM_001378454.1(ALMS1):c.142G>C (p.Glu48Gln)
|
|
|
NM_001378454.1(ALMS1):c.1431A>G (p.Ala477=)
|
|
|
NM_001378454.1(ALMS1):c.1436A>G (p.Asp479Gly)
|
rs1671839144
|
|
NM_001378454.1(ALMS1):c.1448G>C (p.Gly483Ala)
|
|
|
NM_001378454.1(ALMS1):c.144A>G (p.Glu48=)
|
rs1670515874
|
|
NM_001378454.1(ALMS1):c.1451G>C (p.Gly484Ala)
|
|
|
NM_001378454.1(ALMS1):c.1461A>C (p.Lys487Asn)
|
rs1671840179
|
|
NM_001378454.1(ALMS1):c.148_149delinsAA (p.Ala50Lys)
|
rs2104058681
|
|
NM_001378454.1(ALMS1):c.1495A>G (p.Thr499Ala)
|
rs2103771259
|
|
NM_001378454.1(ALMS1):c.1499_1500insGGG (p.Thr500_Pro501insGly)
|
|
|
NM_001378454.1(ALMS1):c.1520G>C (p.Gly507Ala)
|
rs1553403257
|
|
NM_001378454.1(ALMS1):c.1521A>G (p.Gly507=)
|
|
|
NM_001378454.1(ALMS1):c.1540C>T (p.Leu514Phe)
|
rs2103771365
|
|
NM_001378454.1(ALMS1):c.1552T>C (p.Ser518Pro)
|
|
|
NM_001378454.1(ALMS1):c.1556A>G (p.Gln519Arg)
|
rs2103771395
|
|
NM_001378454.1(ALMS1):c.1559T>G (p.Leu520Trp)
|
|
|
NM_001378454.1(ALMS1):c.1562C>G (p.Ala521Gly)
|
|
|
NM_001378454.1(ALMS1):c.1564G>A (p.Val522Ile)
|
|
|
NM_001378454.1(ALMS1):c.1568G>A (p.Ser523Asn)
|
|
|
NM_001378454.1(ALMS1):c.157G>A (p.Glu53Lys)
|
rs2104058756
|
|
NM_001378454.1(ALMS1):c.1589C>G (p.Thr530Ser)
|
|
|
NM_001378454.1(ALMS1):c.1591G>A (p.Gly531Ser)
|
|
|
NM_001378454.1(ALMS1):c.160T>G (p.Leu54Val)
|
rs745737550
|
|
NM_001378454.1(ALMS1):c.161T>C (p.Leu54Ser)
|
rs755760721
|
|
NM_001378454.1(ALMS1):c.1630G>A (p.Asp544Asn)
|
rs1267086121
|
|
NM_001378454.1(ALMS1):c.163G>A (p.Asp55Asn)
|
|
|
NM_001378454.1(ALMS1):c.1667C>G (p.Ala556Gly)
|
rs2103771804
|
|
NM_001378454.1(ALMS1):c.167C>G (p.Ser56Cys)
|
rs2104058882
|
|
NM_001378454.1(ALMS1):c.1682C>G (p.Ala561Gly)
|
|
|
NM_001378454.1(ALMS1):c.1699A>G (p.Thr567Ala)
|
|
|
NM_001378454.1(ALMS1):c.1700C>G (p.Thr567Arg)
|
rs752312999
|
|
NM_001378454.1(ALMS1):c.1705A>G (p.Thr569Ala)
|
rs1671846580
|
|
NM_001378454.1(ALMS1):c.1707A>T (p.Thr569=)
|
|
|
NM_001378454.1(ALMS1):c.171C>G (p.Asp57Glu)
|
rs2104058944
|
|
NM_001378454.1(ALMS1):c.1721C>T (p.Ser574Phe)
|
|
|
NM_001378454.1(ALMS1):c.1729C>T (p.His577Tyr)
|
rs1671847160
|
|
NM_001378454.1(ALMS1):c.1736G>T (p.Gly579Val)
|
rs2103772041
|
|
NM_001378454.1(ALMS1):c.1737G>T (p.Gly579=)
|
|
|
NM_001378454.1(ALMS1):c.1744A>C (p.Ser582Arg)
|
|
|
NM_001378454.1(ALMS1):c.1754A>C (p.Tyr585Ser)
|
|
|
NM_001378454.1(ALMS1):c.1761G>C (p.Gln587His)
|
rs1553403313
|
|
NM_001378454.1(ALMS1):c.1762G>A (p.Gly588Ser)
|
|
|
NM_001378454.1(ALMS1):c.1772A>G (p.Asp591Gly)
|
|
|
NM_001378454.1(ALMS1):c.1778A>G (p.His593Arg)
|
rs2103772175
|
|
NM_001378454.1(ALMS1):c.1792G>A (p.Ala598Thr)
|
rs776537010
|
|
NM_001378454.1(ALMS1):c.1807G>A (p.Ala603Thr)
|
rs745501026
|
|
NM_001378454.1(ALMS1):c.1807G>T (p.Ala603Ser)
|
|
|
NM_001378454.1(ALMS1):c.1813C>T (p.Pro605Ser)
|
rs1671849058
|
|
NM_001378454.1(ALMS1):c.1816G>A (p.Gly606Arg)
|
rs1553403321
|
|
NM_001378454.1(ALMS1):c.1828C>G (p.Gln610Glu)
|
|
|
NM_001378454.1(ALMS1):c.1832C>G (p.Thr611Arg)
|
rs1382642304
|
|
NM_001378454.1(ALMS1):c.1837_1838delinsAA (p.Gly613Asn)
|
rs2103772404
|
|
NM_001378454.1(ALMS1):c.1847C>T (p.Thr616Ile)
|
rs2103772456
|
|
NM_001378454.1(ALMS1):c.184C>T (p.Pro62Ser)
|
|
|
NM_001378454.1(ALMS1):c.1852A>G (p.Thr618Ala)
|
|
|
NM_001378454.1(ALMS1):c.1854_1856dup (p.Ser619_Thr620insSer)
|
|
|
NM_001378454.1(ALMS1):c.1859C>G (p.Thr620Ser)
|
rs1447523847
|
|
NM_001378454.1(ALMS1):c.1862C>T (p.Ser621Phe)
|
|
|
NM_001378454.1(ALMS1):c.1899A>T (p.Gln633His)
|
|
|
NM_001378454.1(ALMS1):c.1901A>G (p.Gln634Arg)
|
|
|
NM_001378454.1(ALMS1):c.1905G>C (p.Glu635Asp)
|
|
|
NM_001378454.1(ALMS1):c.1906T>C (p.Leu636=)
|
rs2103772724
|
|
NM_001378454.1(ALMS1):c.1909C>A (p.Pro637Thr)
|
|
|
NM_001378454.1(ALMS1):c.1909C>T (p.Pro637Ser)
|
rs2103772730
|
|
NM_001378454.1(ALMS1):c.1912G>A (p.Glu638Lys)
|
|
|
NM_001378454.1(ALMS1):c.1933C>G (p.Pro645Ala)
|
rs146234123
|
|
NM_001378454.1(ALMS1):c.1941A>C (p.Glu647Asp)
|
rs768031771
|
|
NM_001378454.1(ALMS1):c.1950T>C (p.Ala650=)
|
|
|
NM_001378454.1(ALMS1):c.1955C>G (p.Pro652Arg)
|
|
|
NM_001378454.1(ALMS1):c.1961C>T (p.Pro654Leu)
|
rs2103772890
|
|
NM_001378454.1(ALMS1):c.1965G>A (p.Val655=)
|
rs1553403345
|
|
NM_001378454.1(ALMS1):c.1966G>A (p.Glu656Lys)
|
|
|
NM_001378454.1(ALMS1):c.196G>A (p.Glu66Lys)
|
|
|
NM_001378454.1(ALMS1):c.1990G>T (p.Val664Leu)
|
rs754619355
|
|
NM_001378454.1(ALMS1):c.199A>C (p.Ser67Arg)
|
rs1670519049
|
|
NM_001378454.1(ALMS1):c.1A>C (p.Met1Leu)
|
|
|
NM_001378454.1(ALMS1):c.1A>G (p.Met1Val)
|
rs1429891881
|
|
NM_001378454.1(ALMS1):c.2005C>A (p.His669Asn)
|
|
|
NM_001378454.1(ALMS1):c.2008T>A (p.Ser670Thr)
|
|
|
NM_001378454.1(ALMS1):c.2012A>G (p.His671Arg)
|
rs1558647685
|
|
NM_001378454.1(ALMS1):c.2021A>G (p.Asp674Gly)
|
|
|
NM_001378454.1(ALMS1):c.2026C>G (p.Leu676Val)
|
|
|
NM_001378454.1(ALMS1):c.2029T>G (p.Phe677Val)
|
|
|
NM_001378454.1(ALMS1):c.203T>C (p.Ile68Thr)
|
rs765378599
|
|
NM_001378454.1(ALMS1):c.204_212del (p.Ile68_Glu71delinsMet)
|
rs1553396244
|
|
NM_001378454.1(ALMS1):c.2057G>A (p.Gly686Asp)
|
|
|
NM_001378454.1(ALMS1):c.2065A>C (p.Thr689Pro)
|
|
|
NM_001378454.1(ALMS1):c.2071C>A (p.Gln691Lys)
|
rs752875933
|
|
NM_001378454.1(ALMS1):c.2074G>T (p.Ala692Ser)
|
rs1309166073
|
|
NM_001378454.1(ALMS1):c.2083G>A (p.Val695Ile)
|
|
|
NM_001378454.1(ALMS1):c.208G>A (p.Asp70Asn)
|
rs2104059373
|
|
NM_001378454.1(ALMS1):c.2093_2107del (p.Val698_Ala702del)
|
rs1671856599
|
|
NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1])
|
rs772848105
|
|
NM_001378454.1(ALMS1):c.209ACGAGGAGG[3] (p.70DEE[3])
|
rs772848105
|
|
NM_001378454.1(ALMS1):c.2117C>T (p.Thr706Ile)
|
|
|
NM_001378454.1(ALMS1):c.211G>C (p.Glu71Gln)
|
rs757131983
|
|
NM_001378454.1(ALMS1):c.2120G>A (p.Gly707Glu)
|
rs1427149217
|
|
NM_001378454.1(ALMS1):c.2121G>T (p.Gly707=)
|
rs878854997
|
|
NM_001378454.1(ALMS1):c.2126C>T (p.Ala709Val)
|
rs2103773702
|
|
NM_001378454.1(ALMS1):c.2129C>G (p.Thr710Arg)
|
|
|
NM_001378454.1(ALMS1):c.2130A>T (p.Thr710=)
|
|
|
NM_001378454.1(ALMS1):c.2131G>A (p.Val711Ile)
|
rs747790543
|
|
NM_001378454.1(ALMS1):c.2136C>G (p.Leu712=)
|
|
|
NM_001378454.1(ALMS1):c.2138C>T (p.Ser713Phe)
|
|
|
NM_001378454.1(ALMS1):c.2144C>G (p.Pro715Arg)
|
|
|
NM_001378454.1(ALMS1):c.2147A>G (p.His716Arg)
|
|
|
NM_001378454.1(ALMS1):c.2153A>T (p.His718Leu)
|
rs1182404684
|
|
NM_001378454.1(ALMS1):c.2170A>G (p.Ile724Val)
|
rs1671859518
|
|
NM_001378454.1(ALMS1):c.2177A>C (p.Tyr726Ser)
|
|
|
NM_001378454.1(ALMS1):c.218A>C (p.Asp73Ala)
|
|
|
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg)
|
rs1671860790
|
|
NM_001378454.1(ALMS1):c.2203C>G (p.Gln735Glu)
|
|
|
NM_001378454.1(ALMS1):c.2207_2299del (p.Thr736_Gln766del)
|
rs1671861000
|
|
NM_001378454.1(ALMS1):c.220_228dup (p.Glu74_Ala76dup)
|
rs762635802
|
|
NM_001378454.1(ALMS1):c.2215A>T (p.Thr739Ser)
|
rs2103774232
|
|
NM_001378454.1(ALMS1):c.2218C>G (p.Leu740Val)
|
|
|
NM_001378454.1(ALMS1):c.2218C>T (p.Leu740Phe)
|
|
|
NM_001378454.1(ALMS1):c.2222C>T (p.Thr741Ile)
|
rs758047046
|
|
NM_001378454.1(ALMS1):c.2223T>A (p.Thr741=)
|
|
|
NM_001378454.1(ALMS1):c.2226A>G (p.Lys742=)
|
|
|
NM_001378454.1(ALMS1):c.2227G>C (p.Val743Leu)
|
rs1046271130
|
|
NM_001378454.1(ALMS1):c.2230T>G (p.Ser744Ala)
|
rs2103774349
|
|
NM_001378454.1(ALMS1):c.2237C>T (p.Thr746Ile)
|
|
|
NM_001378454.1(ALMS1):c.2243G>T (p.Gly748Val)
|
|
|
NM_001378454.1(ALMS1):c.2248G>T (p.Ala750Ser)
|
|
|
NM_001378454.1(ALMS1):c.2249C>T (p.Ala750Val)
|
rs2103774445
|
|
NM_001378454.1(ALMS1):c.2251G>A (p.Asp751Asn)
|
|
|
NM_001378454.1(ALMS1):c.2260A>T (p.Thr754Ser)
|
rs781628262
|
|
NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg)
|
rs1572932391
|
|
NM_001378454.1(ALMS1):c.2281T>G (p.Ser761Ala)
|
|
|
NM_001378454.1(ALMS1):c.2284A>G (p.Ser762Gly)
|
|
|
NM_001378454.1(ALMS1):c.2291A>G (p.Tyr764Cys)
|
|
|
NM_001378454.1(ALMS1):c.2293_3150del (p.Ser765_Tyr1050del)
|
rs2103774407
|
|
NM_001378454.1(ALMS1):c.2306A>G (p.Lys769Arg)
|
|
|
NM_001378454.1(ALMS1):c.2312G>A (p.Ser771Asn)
|
rs2103774719
|
|
NM_001378454.1(ALMS1):c.2339A>T (p.Asp780Val)
|
rs756716132
|
|
NM_001378454.1(ALMS1):c.2350C>A (p.Pro784Thr)
|
|
|
NM_001378454.1(ALMS1):c.2358G>T (p.Glu786Asp)
|
rs2103774906
|
|
NM_001378454.1(ALMS1):c.2359G>A (p.Gly787Ser)
|
|
|
NM_001378454.1(ALMS1):c.2366A>C (p.Lys789Thr)
|
|
|
NM_001378454.1(ALMS1):c.2374G>C (p.Ala792Pro)
|
rs1181372708
|
|
NM_001378454.1(ALMS1):c.2410C>G (p.Pro804Ala)
|
rs1391556218
|
|
NM_001378454.1(ALMS1):c.2411C>A (p.Pro804Gln)
|
rs2103775015
|
|
NM_001378454.1(ALMS1):c.2414C>G (p.Thr805Arg)
|
rs1671867434
|
|
NM_001378454.1(ALMS1):c.241C>G (p.Gln81Glu)
|
rs778264668
|
|
NM_001378454.1(ALMS1):c.2423C>T (p.Ser808Phe)
|
rs1389525541
|
|
NM_001378454.1(ALMS1):c.2431T>C (p.Tyr811His)
|
|
|
NM_001378454.1(ALMS1):c.2434T>C (p.Ser812Pro)
|
|
|
NM_001378454.1(ALMS1):c.2443G>A (p.Glu815Lys)
|
rs370978261
|
|
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp)
|
rs754424459
|
|
NM_001378454.1(ALMS1):c.2476C>A (p.Leu826Met)
|
rs2103775303
|
|
NM_001378454.1(ALMS1):c.2478_2479delinsCT (p.Asp827Tyr)
|
|
|
NM_001378454.1(ALMS1):c.2498A>G (p.Glu833Gly)
|
|
|
NM_001378454.1(ALMS1):c.249C>A (p.His83Gln)
|
|
|
NM_001378454.1(ALMS1):c.2500G>T (p.Ala834Ser)
|
|
|
NM_001378454.1(ALMS1):c.2503C>G (p.Leu835Val)
|
rs2103775468
|
|
NM_001378454.1(ALMS1):c.251C>T (p.Pro84Leu)
|
|
|
NM_001378454.1(ALMS1):c.253G>A (p.Gly85Ser)
|
|
|
NM_001378454.1(ALMS1):c.2544T>G (p.Thr848=)
|
|
|
NM_001378454.1(ALMS1):c.2546G>A (p.Gly849Glu)
|
|
|
NM_001378454.1(ALMS1):c.2548A>G (p.Thr850Ala)
|
rs1304119807
|
|
NM_001378454.1(ALMS1):c.254G>A (p.Gly85Asp)
|
rs1574424065
|
|
NM_001378454.1(ALMS1):c.2554G>A (p.Ala852Thr)
|
|
|
NM_001378454.1(ALMS1):c.2555C>T (p.Ala852Val)
|
|
|
NM_001378454.1(ALMS1):c.2561C>G (p.Thr854Ser)
|
|
|
NM_001378454.1(ALMS1):c.2566A>G (p.Thr856Ala)
|
|
|
NM_001378454.1(ALMS1):c.256A>G (p.Arg86Gly)
|
|
|
NM_001378454.1(ALMS1):c.2570C>A (p.Ser857Tyr)
|
|
|
NM_001378454.1(ALMS1):c.2575G>C (p.Ala859Pro)
|
rs2103775737
|
|
NM_001378454.1(ALMS1):c.2596A>G (p.Lys866Glu)
|
rs2103775820
|
|
NM_001378454.1(ALMS1):c.2615A>G (p.Gln872Arg)
|
rs2103775891
|
|
NM_001378454.1(ALMS1):c.263T>C (p.Leu88Ser)
|
rs2104059929
|
|
NM_001378454.1(ALMS1):c.2645A>G (p.Glu882Gly)
|
|
|
NM_001378454.1(ALMS1):c.2651C>T (p.Ala884Val)
|
|
|
NM_001378454.1(ALMS1):c.265C>T (p.Pro89Ser)
|
rs956834448
|
|
NM_001378454.1(ALMS1):c.2664A>C (p.Ser888=)
|
|
|
NM_001378454.1(ALMS1):c.2665A>T (p.Ile889Phe)
|
|
|
NM_001378454.1(ALMS1):c.2678C>T (p.Pro893Leu)
|
rs1671874349
|
|
NM_001378454.1(ALMS1):c.2683_2685del (p.Asp895del)
|
rs763288832
|
|
NM_001378454.1(ALMS1):c.2684A>G (p.Asp895Gly)
|
|
|
NM_001378454.1(ALMS1):c.2687A>T (p.Gln896Leu)
|
rs1671874811
|
|
NM_001378454.1(ALMS1):c.268C>T (p.Pro90Ser)
|
|
|
NM_001378454.1(ALMS1):c.2695G>A (p.Gly899Arg)
|
rs1671874954
|
|
NM_001378454.1(ALMS1):c.269C>T (p.Pro90Leu)
|
|
|
NM_001378454.1(ALMS1):c.2700A>G (p.Ile900Met)
|
|
|
NM_001378454.1(ALMS1):c.2702C>T (p.Pro901Leu)
|
rs2103776209
|
|
NM_001378454.1(ALMS1):c.2721C>A (p.Phe907Leu)
|
rs2103776271
|
|
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu)
|
rs746640196
|
|
NM_001378454.1(ALMS1):c.272T>A (p.Leu91Gln)
|
|
|
NM_001378454.1(ALMS1):c.2737A>G (p.Lys913Glu)
|
rs2103776357
|
|
NM_001378454.1(ALMS1):c.2745T>G (p.Ile915Met)
|
rs2103776397
|
|
NM_001378454.1(ALMS1):c.2746A>G (p.Ile916Val)
|
rs1355707191
|
|
NM_001378454.1(ALMS1):c.2751T>A (p.Phe917Leu)
|
|
|
NM_001378454.1(ALMS1):c.2761A>G (p.Thr921Ala)
|
|
|
NM_001378454.1(ALMS1):c.2768C>G (p.Pro923Arg)
|
|
|
NM_001378454.1(ALMS1):c.2770G>C (p.Asp924His)
|
|
|
NM_001378454.1(ALMS1):c.277C>T (p.Pro93Ser)
|
|
|
NM_001378454.1(ALMS1):c.2780T>A (p.Phe927Tyr)
|
|
|
NM_001378454.1(ALMS1):c.2800G>T (p.Val934Phe)
|
|
|
NM_001378454.1(ALMS1):c.280C>G (p.Pro94Ala)
|
rs775431837
|
|
NM_001378454.1(ALMS1):c.281C>G (p.Pro94Arg)
|
|
|
NM_001378454.1(ALMS1):c.281C>T (p.Pro94Leu)
|
|
|
NM_001378454.1(ALMS1):c.2820G>A (p.Leu940=)
|
|
|
NM_001378454.1(ALMS1):c.283C>A (p.Gln95Lys)
|
|
|
NM_001378454.1(ALMS1):c.2848G>A (p.Val950Met)
|
rs370733145
|
|
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu)
|
rs370733145
|
|
NM_001378454.1(ALMS1):c.284A>G (p.Gln95Arg)
|
|
|
NM_001378454.1(ALMS1):c.2863C>T (p.His955Tyr)
|
|
|
NM_001378454.1(ALMS1):c.2866T>C (p.Ser956Pro)
|
|
|
NM_001378454.1(ALMS1):c.2867C>T (p.Ser956Leu)
|
|
|
NM_001378454.1(ALMS1):c.2873G>A (p.Ser958Asn)
|
|
|
NM_001378454.1(ALMS1):c.2875G>A (p.Glu959Lys)
|
|
|
NM_001378454.1(ALMS1):c.2882C>G (p.Ser961Cys)
|
rs2103776868
|
|
NM_001378454.1(ALMS1):c.2884A>G (p.Ser962Gly)
|
|
|
NM_001378454.1(ALMS1):c.2890T>G (p.Phe964Val)
|
rs2103776905
|
|
NM_001378454.1(ALMS1):c.2894A>G (p.Tyr965Cys)
|
rs1671879952
|
|
NM_001378454.1(ALMS1):c.2896C>G (p.Gln966Glu)
|
rs761177629
|
|
NM_001378454.1(ALMS1):c.2898G>T (p.Gln966His)
|
rs2103776938
|
|
NM_001378454.1(ALMS1):c.2907G>T (p.Leu969Phe)
|
|
|
NM_001378454.1(ALMS1):c.2914A>T (p.Ser972Cys)
|
|
|
NM_001378454.1(ALMS1):c.2930A>T (p.Glu977Val)
|
|
|
NM_001378454.1(ALMS1):c.2943G>C (p.Met981Ile)
|
rs757088179
|
|
NM_001378454.1(ALMS1):c.2950A>G (p.Ile984Val)
|
|
|
NM_001378454.1(ALMS1):c.2954C>T (p.Pro985Leu)
|
|
|
NM_001378454.1(ALMS1):c.2969A>G (p.Gln990Arg)
|
|
|
NM_001378454.1(ALMS1):c.2974A>C (p.Thr992Pro)
|
rs2103777146
|
|
NM_001378454.1(ALMS1):c.2981C>G (p.Pro994Arg)
|
|
|
NM_001378454.1(ALMS1):c.2983A>G (p.Thr995Ala)
|
rs776162820
|
|
NM_001378454.1(ALMS1):c.2989A>G (p.Thr997Ala)
|
|
|
NM_001378454.1(ALMS1):c.3002G>A (p.Gly1001Asp)
|
rs773630367
|
|
NM_001378454.1(ALMS1):c.301G>A (p.Gly101Ser)
|
|
|
NM_001378454.1(ALMS1):c.3027C>T (p.Pro1009=)
|
|
|
NM_001378454.1(ALMS1):c.302G>A (p.Gly101Asp)
|
|
|
NM_001378454.1(ALMS1):c.303C>T (p.Gly101=)
|
|
|
NM_001378454.1(ALMS1):c.3049T>A (p.Trp1017Arg)
|
|
|
NM_001378454.1(ALMS1):c.3067A>G (p.Thr1023Ala)
|
rs1553403605
|
|
NM_001378454.1(ALMS1):c.306G>T (p.Glu102Asp)
|
rs2104060344
|
|
NM_001378454.1(ALMS1):c.3072A>C (p.Glu1024Asp)
|
rs1671884089
|
|
NM_001378454.1(ALMS1):c.3091A>C (p.Thr1031Pro)
|
rs72811915
|
|
NM_001378454.1(ALMS1):c.3091_3231del (p.Thr1031_Ser1077del)
|
|
|
NM_001378454.1(ALMS1):c.3127C>A (p.Pro1043Thr)
|
rs376987487
|
|
NM_001378454.1(ALMS1):c.3127C>T (p.Pro1043Ser)
|
rs376987487
|
|
NM_001378454.1(ALMS1):c.3142A>G (p.Ser1048Gly)
|
rs2103777784
|
|
NM_001378454.1(ALMS1):c.3143G>T (p.Ser1048Ile)
|
|
|
NM_001378454.1(ALMS1):c.3145T>A (p.Ser1049Thr)
|
|
|
NM_001378454.1(ALMS1):c.314C>A (p.Ser105Tyr)
|
rs1328427718
|
|
NM_001378454.1(ALMS1):c.3166C>T (p.Pro1056Ser)
|
|
|
NM_001378454.1(ALMS1):c.3169A>G (p.Ser1057Gly)
|
rs750417761
|
|
NM_001378454.1(ALMS1):c.3169A>T (p.Ser1057Cys)
|
|
|
NM_001378454.1(ALMS1):c.3181C>T (p.Pro1061Ser)
|
rs754651123
|
|
NM_001378454.1(ALMS1):c.319G>C (p.Glu107Gln)
|
|
|
NM_001378454.1(ALMS1):c.3202C>A (p.His1068Asn)
|
|
|
NM_001378454.1(ALMS1):c.3232G>C (p.Ala1078Pro)
|
rs1249823614
|
|
NM_001378454.1(ALMS1):c.3233C>T (p.Ala1078Val)
|
|
|
NM_001378454.1(ALMS1):c.3236T>G (p.Phe1079Cys)
|
|
|
NM_001378454.1(ALMS1):c.3238C>T (p.Pro1080Ser)
|
|
|
NM_001378454.1(ALMS1):c.3239C>T (p.Pro1080Leu)
|
rs1671888366
|
|
NM_001378454.1(ALMS1):c.324+4A>G
|
rs1553396304
|
|
NM_001378454.1(ALMS1):c.324+5G>T
|
|
|
NM_001378454.1(ALMS1):c.324G>C (p.Lys108Asn)
|
|
|
NM_001378454.1(ALMS1):c.3254A>T (p.Gln1085Leu)
|
|
|
NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His)
|
rs181507134
|
|
NM_001378454.1(ALMS1):c.325A>G (p.Ile109Val)
|
|
|
NM_001378454.1(ALMS1):c.3260C>T (p.Thr1087Ile)
|
|
|
NM_001378454.1(ALMS1):c.3265A>G (p.Thr1089Ala)
|
|
|
NM_001378454.1(ALMS1):c.3266C>A (p.Thr1089Lys)
|
rs556855697
|
|
NM_001378454.1(ALMS1):c.3266C>T (p.Thr1089Ile)
|
rs556855697
|
|
NM_001378454.1(ALMS1):c.3268C>T (p.Pro1090Ser)
|
|
|
NM_001378454.1(ALMS1):c.3278C>A (p.Pro1093Gln)
|
|
|
NM_001378454.1(ALMS1):c.3284C>G (p.Thr1095Ser)
|
|
|
NM_001378454.1(ALMS1):c.328G>A (p.Val110Ile)
|
rs2103675391
|
|
NM_001378454.1(ALMS1):c.3292T>C (p.Ser1098Pro)
|
rs1553403651
|
|
NM_001378454.1(ALMS1):c.3300A>C (p.Arg1100Ser)
|
|
|
NM_001378454.1(ALMS1):c.3320A>G (p.Tyr1107Cys)
|
|
|
NM_001378454.1(ALMS1):c.3331T>A (p.Leu1111Met)
|
|
|
NM_001378454.1(ALMS1):c.3350C>G (p.Pro1117Arg)
|
|
|
NM_001378454.1(ALMS1):c.3362T>C (p.Leu1121Pro)
|
|
|
NM_001378454.1(ALMS1):c.3366A>C (p.Lys1122Asn)
|
rs1254282900
|
|
NM_001378454.1(ALMS1):c.3386T>A (p.Leu1129Gln)
|
rs2103778692
|
|
NM_001378454.1(ALMS1):c.3389C>G (p.Ala1130Gly)
|
|
|
NM_001378454.1(ALMS1):c.338C>T (p.Thr113Ile)
|
rs1417754706
|
|
NM_001378454.1(ALMS1):c.3399G>T (p.Lys1133Asn)
|
|
|
NM_001378454.1(ALMS1):c.3401C>G (p.Thr1134Ser)
|
|
|
NM_001378454.1(ALMS1):c.3407C>G (p.Thr1136Arg)
|
|
|
NM_001378454.1(ALMS1):c.3409C>T (p.Pro1137Ser)
|
rs2103778839
|
|
NM_001378454.1(ALMS1):c.3416T>C (p.Val1139Ala)
|
|
|
NM_001378454.1(ALMS1):c.3428C>T (p.Ser1143Phe)
|
|
|
NM_001378454.1(ALMS1):c.3436C>A (p.Gln1146Lys)
|
rs2103778961
|
|
NM_001378454.1(ALMS1):c.3440A>T (p.His1147Leu)
|
|
|
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile)
|
rs752342634
|
|
NM_001378454.1(ALMS1):c.3472G>C (p.Ala1158Pro)
|
rs376302473
|
|
NM_001378454.1(ALMS1):c.3488A>T (p.His1163Leu)
|
|
|
NM_001378454.1(ALMS1):c.3490A>G (p.Ile1164Val)
|
|
|
NM_001378454.1(ALMS1):c.3503C>T (p.Ala1168Val)
|
rs2103779179
|
|
NM_001378454.1(ALMS1):c.3510A>C (p.Lys1170Asn)
|
rs1671897603
|
|
NM_001378454.1(ALMS1):c.3523A>G (p.Thr1175Ala)
|
rs1321889913
|
|
NM_001378454.1(ALMS1):c.3547T>C (p.Trp1183Arg)
|
rs2103779356
|
|
NM_001378454.1(ALMS1):c.354A>G (p.Gln118=)
|
rs531782624
|
|
NM_001378454.1(ALMS1):c.3550A>T (p.Ile1184Leu)
|
|
|
NM_001378454.1(ALMS1):c.3552A>G (p.Ile1184Met)
|
rs2103779378
|
|
NM_001378454.1(ALMS1):c.3563T>G (p.Leu1188Arg)
|
|
|
NM_001378454.1(ALMS1):c.3566C>T (p.Ser1189Phe)
|
|
|
NM_001378454.1(ALMS1):c.3570C>T (p.Thr1190=)
|
|
|
NM_001378454.1(ALMS1):c.3574T>C (p.Tyr1192His)
|
rs1553403697
|
|
NM_001378454.1(ALMS1):c.3574T>G (p.Tyr1192Asp)
|
rs1553403697
|
|
NM_001378454.1(ALMS1):c.3575A>G (p.Tyr1192Cys)
|
|
|
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp)
|
rs1572934110
|
|
NM_001378454.1(ALMS1):c.3596G>C (p.Gly1199Ala)
|
|
|
NM_001378454.1(ALMS1):c.35_36insCGAGGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGluGlu)
|
|
|
NM_001378454.1(ALMS1):c.35_37dup (p.Leu12_Glu13insVal)
|
rs1244345693
|
|
NM_001378454.1(ALMS1):c.3610C>A (p.Gln1204Lys)
|
rs2103779570
|
|
NM_001378454.1(ALMS1):c.3617T>C (p.Leu1206Ser)
|
|
|
NM_001378454.1(ALMS1):c.3631A>G (p.Ile1211Val)
|
|
|
NM_001378454.1(ALMS1):c.3635C>T (p.Pro1212Leu)
|
rs747033635
|
|
NM_001378454.1(ALMS1):c.3644C>T (p.Ala1215Val)
|
|
|
NM_001378454.1(ALMS1):c.3664C>A (p.Leu1222Ile)
|
|
|
NM_001378454.1(ALMS1):c.3667G>A (p.Gly1223Arg)
|
|
|
NM_001378454.1(ALMS1):c.3676_3693del (p.Asp1226_Thr1231del)
|
rs2103779760
|
|
NM_001378454.1(ALMS1):c.3694C>T (p.Pro1232Ser)
|
|
|
NM_001378454.1(ALMS1):c.36GGA[21] (p.Glu21_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.3701C>A (p.Pro1234Gln)
|
|
|
NM_001378454.1(ALMS1):c.3701C>T (p.Pro1234Leu)
|
|
|
NM_001378454.1(ALMS1):c.3703A>G (p.Thr1235Ala)
|
|
|
NM_001378454.1(ALMS1):c.3706T>A (p.Ser1236Thr)
|
|
|
NM_001378454.1(ALMS1):c.3706T>C (p.Ser1236Pro)
|
|
|
NM_001378454.1(ALMS1):c.3712T>G (p.Ser1238Ala)
|
|
|
NM_001378454.1(ALMS1):c.3725C>G (p.Thr1242Arg)
|
rs1238618740
|
|
NM_001378454.1(ALMS1):c.3728A>G (p.Glu1243Gly)
|
|
|
NM_001378454.1(ALMS1):c.3730A>G (p.Lys1244Glu)
|
rs757303904
|
|
NM_001378454.1(ALMS1):c.3734C>G (p.Pro1245Arg)
|
rs1558648928
|
|
NM_001378454.1(ALMS1):c.3734C>T (p.Pro1245Leu)
|
rs1558648928
|
|
NM_001378454.1(ALMS1):c.3752A>G (p.Gln1251Arg)
|
|
|
NM_001378454.1(ALMS1):c.3755T>G (p.Val1252Gly)
|
|
|
NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del)
|
rs760942576
|
|
NM_001378454.1(ALMS1):c.3769C>T (p.His1257Tyr)
|
|
|
NM_001378454.1(ALMS1):c.3799G>A (p.Val1267Ile)
|
rs770278707
|
|
NM_001378454.1(ALMS1):c.3799G>C (p.Val1267Leu)
|
|
|
NM_001378454.1(ALMS1):c.3799G>T (p.Val1267Phe)
|
|
|
NM_001378454.1(ALMS1):c.379A>G (p.Arg127Gly)
|
|
|
NM_001378454.1(ALMS1):c.3809A>G (p.Glu1270Gly)
|
|
|
NM_001378454.1(ALMS1):c.3812C>T (p.Pro1271Leu)
|
rs372563916
|
|
NM_001378454.1(ALMS1):c.3833C>T (p.Thr1278Ile)
|
rs1292358818
|
|
NM_001378454.1(ALMS1):c.3835C>T (p.Pro1279Ser)
|
rs1422410913
|
|
NM_001378454.1(ALMS1):c.3838G>A (p.Ala1280Thr)
|
rs767729719
|
|
NM_001378454.1(ALMS1):c.3838G>C (p.Ala1280Pro)
|
rs767729719
|
|
NM_001378454.1(ALMS1):c.3838_4122del (p.Ala1280_Pro1374del)
|
rs2103780150
|
|
NM_001378454.1(ALMS1):c.3839C>G (p.Ala1280Gly)
|
|
|
NM_001378454.1(ALMS1):c.3850A>G (p.Thr1284Ala)
|
rs1366506910
|
|
NM_001378454.1(ALMS1):c.3853T>G (p.Ser1285Ala)
|
|
|
NM_001378454.1(ALMS1):c.3857A>C (p.Tyr1286Ser)
|
rs2103780445
|
|
NM_001378454.1(ALMS1):c.3859T>C (p.Ser1287Pro)
|
|
|
NM_001378454.1(ALMS1):c.3874A>G (p.Lys1292Glu)
|
rs2103780517
|
|
NM_001378454.1(ALMS1):c.387A>C (p.Gln129His)
|
|
|
NM_001378454.1(ALMS1):c.3897G>T (p.Gln1299His)
|
rs745335322
|
|
NM_001378454.1(ALMS1):c.3899C>T (p.Ser1300Leu)
|
rs769219669
|
|
NM_001378454.1(ALMS1):c.38A>G (p.Glu13Gly)
|
rs1574423651
|
|
NM_001378454.1(ALMS1):c.3907A>G (p.Ser1303Gly)
|
|
|
NM_001378454.1(ALMS1):c.3907AGT[1] (p.Ser1304del)
|
rs775132874
|
|
NM_001378454.1(ALMS1):c.3915T>C (p.His1305=)
|
|
|
NM_001378454.1(ALMS1):c.3920C>T (p.Thr1307Ile)
|
|
|
NM_001378454.1(ALMS1):c.3922G>A (p.Glu1308Lys)
|
|
|
NM_001378454.1(ALMS1):c.3936_4220del (p.Ala1320_Pro1414del)
|
rs2103780643
|
|
NM_001378454.1(ALMS1):c.3938T>C (p.Val1313Ala)
|
|
|
NM_001378454.1(ALMS1):c.3941C>T (p.Ser1314Leu)
|
rs2103780749
|
|
NM_001378454.1(ALMS1):c.3961G>T (p.Asp1321Tyr)
|
rs2103780841
|
|
NM_001378454.1(ALMS1):c.3963C>G (p.Asp1321Glu)
|
|
|
NM_001378454.1(ALMS1):c.3967A>G (p.Lys1323Glu)
|
|
|
NM_001378454.1(ALMS1):c.3970A>G (p.Thr1324Ala)
|
rs1671910039
|
|
NM_001378454.1(ALMS1):c.3978A>G (p.Ile1326Met)
|
rs2103780894
|
|
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu)
|
rs764135588
|
|
NM_001378454.1(ALMS1):c.398C>T (p.Thr133Ile)
|
rs1348003970
|
|
NM_001378454.1(ALMS1):c.3992C>T (p.Ser1331Phe)
|
|
|
NM_001378454.1(ALMS1):c.3999C>G (p.Phe1333Leu)
|
|
|
NM_001378454.1(ALMS1):c.4002C>T (p.Tyr1334=)
|
|
|
NM_001378454.1(ALMS1):c.4007A>G (p.His1336Arg)
|
rs2103780957
|
|
NM_001378454.1(ALMS1):c.4012G>C (p.Glu1338Gln)
|
|
|
NM_001378454.1(ALMS1):c.4022G>A (p.Gly1341Asp)
|
rs1671911104
|
|
NM_001378454.1(ALMS1):c.4022G>C (p.Gly1341Ala)
|
|
|
NM_001378454.1(ALMS1):c.4024G>T (p.Val1342Phe)
|
|
|
NM_001378454.1(ALMS1):c.4025T>G (p.Val1342Gly)
|
rs939609171
|
|
NM_001378454.1(ALMS1):c.4028T>C (p.Phe1343Ser)
|
|
|
NM_001378454.1(ALMS1):c.4036C>G (p.Gln1346Glu)
|
|
|
NM_001378454.1(ALMS1):c.4051A>T (p.Ser1351Cys)
|
rs779496090
|
|
NM_001378454.1(ALMS1):c.4052G>A (p.Ser1351Asn)
|
|
|
NM_001378454.1(ALMS1):c.4057C>T (p.Pro1353Ser)
|
rs1005994594
|
|
NM_001378454.1(ALMS1):c.4060A>C (p.Thr1354Pro)
|
rs1330377280
|
|
NM_001378454.1(ALMS1):c.4060A>G (p.Thr1354Ala)
|
rs1330377280
|
|
NM_001378454.1(ALMS1):c.4082C>T (p.Ser1361Leu)
|
rs2103781298
|
|
NM_001378454.1(ALMS1):c.4084G>T (p.Val1362Phe)
|
|
|
NM_001378454.1(ALMS1):c.4091C>T (p.Ser1364Phe)
|
|
|
NM_001378454.1(ALMS1):c.4103A>G (p.Asp1368Gly)
|
|
|
NM_001378454.1(ALMS1):c.410G>C (p.Cys137Ser)
|
|
|
NM_001378454.1(ALMS1):c.4110_4112dup (p.Thr1371dup)
|
rs1448848361
|
|
NM_001378454.1(ALMS1):c.4115G>T (p.Gly1372Val)
|
|
|
NM_001378454.1(ALMS1):c.4118C>T (p.Thr1373Ile)
|
rs1671914302
|
|
NM_001378454.1(ALMS1):c.4134_4418del (p.Thr1379_Ser1473del)
|
rs2103781426
|
|
NM_001378454.1(ALMS1):c.4136C>T (p.Thr1379Ile)
|
|
|
NM_001378454.1(ALMS1):c.4151A>G (p.His1384Arg)
|
|
|
NM_001378454.1(ALMS1):c.4160A>C (p.Lys1387Thr)
|
rs1264554750
|
|
NM_001378454.1(ALMS1):c.4165A>G (p.Ser1389Gly)
|
rs866496302
|
|
NM_001378454.1(ALMS1):c.4170T>G (p.Ile1390Met)
|
rs1671916265
|
|
NM_001378454.1(ALMS1):c.4172T>C (p.Phe1391Ser)
|
|
|
NM_001378454.1(ALMS1):c.4184C>T (p.Ser1395Leu)
|
|
|
NM_001378454.1(ALMS1):c.4213G>A (p.Ala1405Thr)
|
rs1671917742
|
|
NM_001378454.1(ALMS1):c.4216A>G (p.Lys1406Glu)
|
|
|
NM_001378454.1(ALMS1):c.4223T>C (p.Val1408Ala)
|
rs750124571
|
|
NM_001378454.1(ALMS1):c.4229C>T (p.Ala1410Val)
|
|
|
NM_001378454.1(ALMS1):c.422C>T (p.Thr141Ile)
|
|
|
NM_001378454.1(ALMS1):c.4235C>T (p.Pro1412Leu)
|
|
|
NM_001378454.1(ALMS1):c.4241C>G (p.Pro1414Arg)
|
|
|
NM_001378454.1(ALMS1):c.4243G>C (p.Gly1415Arg)
|
rs2103781986
|
|
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln)
|
rs771362238
|
|
NM_001378454.1(ALMS1):c.425C>T (p.Ala142Val)
|
rs2103675826
|
|
NM_001378454.1(ALMS1):c.4265C>T (p.Pro1422Leu)
|
|
|
NM_001378454.1(ALMS1):c.4268C>T (p.Thr1423Ile)
|
|
|
NM_001378454.1(ALMS1):c.4286A>C (p.Tyr1429Ser)
|
rs763136053
|
|
NM_001378454.1(ALMS1):c.4288T>G (p.Ser1430Ala)
|
rs1671920005
|
|
NM_001378454.1(ALMS1):c.4291C>A (p.His1431Asn)
|
|
|
NM_001378454.1(ALMS1):c.4306G>A (p.Gly1436Ser)
|
rs759249886
|
|
NM_001378454.1(ALMS1):c.4310G>T (p.Ser1437Ile)
|
|
|
NM_001378454.1(ALMS1):c.4316A>G (p.Tyr1439Cys)
|
|
|
NM_001378454.1(ALMS1):c.4333C>T (p.His1445Tyr)
|
rs746087402
|
|
NM_001378454.1(ALMS1):c.4338T>G (p.Ser1446Arg)
|
|
|
NM_001378454.1(ALMS1):c.4339C>T (p.His1447Tyr)
|
|
|
NM_001378454.1(ALMS1):c.4354G>A (p.Ala1452Thr)
|
|
|
NM_001378454.1(ALMS1):c.4363G>A (p.Val1455Ile)
|
rs1445707777
|
|
NM_001378454.1(ALMS1):c.4369G>T (p.Val1457Phe)
|
rs373453289
|
|
NM_001378454.1(ALMS1):c.4375C>G (p.Pro1459Ala)
|
|
|
NM_001378454.1(ALMS1):c.4381C>A (p.Pro1461Thr)
|
rs2103782534
|
|
NM_001378454.1(ALMS1):c.4388_4528del (p.Asp1463_Val1509del)
|
|
|
NM_001378454.1(ALMS1):c.4391A>G (p.Gln1464Arg)
|
|
|
NM_001378454.1(ALMS1):c.4391A>T (p.Gln1464Leu)
|
|
|
NM_001378454.1(ALMS1):c.4404A>G (p.Thr1468=)
|
|
|
NM_001378454.1(ALMS1):c.4415C>T (p.Thr1472Ile)
|
|
|
NM_001378454.1(ALMS1):c.4426A>G (p.Ser1476Gly)
|
|
|
NM_001378454.1(ALMS1):c.4427G>C (p.Ser1476Thr)
|
|
|
NM_001378454.1(ALMS1):c.4436G>A (p.Gly1479Glu)
|
|
|
NM_001378454.1(ALMS1):c.4436G>T (p.Gly1479Val)
|
|
|
NM_001378454.1(ALMS1):c.4446C>T (p.Pro1482=)
|
|
|
NM_001378454.1(ALMS1):c.4459A>G (p.Lys1487Glu)
|
|
|
NM_001378454.1(ALMS1):c.446A>G (p.Asp149Gly)
|
rs1671019702
|
|
NM_001378454.1(ALMS1):c.4478G>C (p.Gly1493Ala)
|
rs1347210507
|
|
NM_001378454.1(ALMS1):c.4498C>T (p.Leu1500=)
|
|
|
NM_001378454.1(ALMS1):c.4535C>G (p.Thr1512Arg)
|
|
|
NM_001378454.1(ALMS1):c.4546C>A (p.Pro1516Thr)
|
|
|
NM_001378454.1(ALMS1):c.4549A>G (p.Thr1517Ala)
|
rs1572935497
|
|
NM_001378454.1(ALMS1):c.4552A>C (p.Ile1518Leu)
|
|
|
NM_001378454.1(ALMS1):c.4554A>G (p.Ile1518Met)
|
|
|
NM_001378454.1(ALMS1):c.4558T>G (p.Ser1520Ala)
|
|
|
NM_001378454.1(ALMS1):c.4565C>G (p.Ser1522Cys)
|
rs1060500036
|
|
NM_001378454.1(ALMS1):c.4573_4716del (p.Gln1525_Ser1572del)
|
|
|
NM_001378454.1(ALMS1):c.4574A>C (p.Gln1525Pro)
|
|
|
NM_001378454.1(ALMS1):c.4577A>G (p.His1526Arg)
|
rs1164930753
|
|
NM_001378454.1(ALMS1):c.4599C>A (p.Phe1533Leu)
|
|
|
NM_001378454.1(ALMS1):c.4601A>G (p.Tyr1534Cys)
|
rs751003573
|
|
NM_001378454.1(ALMS1):c.4606C>G (p.Leu1536Val)
|
rs2103783328
|
|
NM_001378454.1(ALMS1):c.4609G>A (p.Ala1537Thr)
|
rs2103783338
|
|
NM_001378454.1(ALMS1):c.4624C>G (p.Gln1542Glu)
|
rs1671928724
|
|
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His)
|
rs201603580
|
|
NM_001378454.1(ALMS1):c.4639G>A (p.Ala1547Thr)
|
|
|
NM_001378454.1(ALMS1):c.4642C>T (p.Leu1548Phe)
|
rs2103783451
|
|
NM_001378454.1(ALMS1):c.4651T>G (p.Ser1551Ala)
|
|
|
NM_001378454.1(ALMS1):c.4667C>T (p.Pro1556Leu)
|
|
|
NM_001378454.1(ALMS1):c.4678A>G (p.Thr1560Ala)
|
rs1558649606
|
|
NM_001378454.1(ALMS1):c.4684G>A (p.Gly1562Ser)
|
rs1671930409
|
|
NM_001378454.1(ALMS1):c.46_47insCGG (p.Glu15_Glu16insAla)
|
rs1558624515
|
|
NM_001378454.1(ALMS1):c.4700C>A (p.Thr1567Asn)
|
|
|
NM_001378454.1(ALMS1):c.4714T>G (p.Ser1572Ala)
|
rs2103783756
|
|
NM_001378454.1(ALMS1):c.4717T>C (p.Phe1573Leu)
|
rs2103783780
|
|
NM_001378454.1(ALMS1):c.4720G>A (p.Gly1574Arg)
|
|
|
NM_001378454.1(ALMS1):c.4721G>C (p.Gly1574Ala)
|
|
|
NM_001378454.1(ALMS1):c.472C>T (p.Leu158Phe)
|
|
|
NM_001378454.1(ALMS1):c.4730C>T (p.Pro1577Leu)
|
|
|
NM_001378454.1(ALMS1):c.4733T>C (p.Ile1578Thr)
|
rs2103783837
|
|
NM_001378454.1(ALMS1):c.4742A>G (p.Tyr1581Cys)
|
|
|
NM_001378454.1(ALMS1):c.4749G>T (p.Gln1583His)
|
rs749067384
|
|
NM_001378454.1(ALMS1):c.4751C>G (p.Ala1584Gly)
|
|
|
NM_001378454.1(ALMS1):c.4756C>T (p.Pro1586Ser)
|
rs768373356
|
|
NM_001378454.1(ALMS1):c.4762G>A (p.Gly1588Ser)
|
|
|
NM_001378454.1(ALMS1):c.4763G>T (p.Gly1588Val)
|
|
|
NM_001378454.1(ALMS1):c.4764T>C (p.Gly1588=)
|
|
|
NM_001378454.1(ALMS1):c.4766A>G (p.His1589Arg)
|
|
|
NM_001378454.1(ALMS1):c.4768C>T (p.Leu1590=)
|
|
|
NM_001378454.1(ALMS1):c.4778A>G (p.Glu1593Gly)
|
|
|
NM_001378454.1(ALMS1):c.4805G>A (p.Gly1602Glu)
|
|
|
NM_001378454.1(ALMS1):c.4828A>G (p.Ile1610Val)
|
|
|
NM_001378454.1(ALMS1):c.4831C>G (p.Pro1611Ala)
|
rs935791709
|
|
NM_001378454.1(ALMS1):c.4835C>T (p.Ala1612Val)
|
|
|
NM_001378454.1(ALMS1):c.4843T>A (p.Leu1615Ile)
|
rs375736124
|
|
NM_001378454.1(ALMS1):c.4843T>G (p.Leu1615Val)
|
rs375736124
|
|
NM_001378454.1(ALMS1):c.4846G>A (p.Gly1616Ser)
|
|
|
NM_001378454.1(ALMS1):c.4847G>A (p.Gly1616Asp)
|
|
|
NM_001378454.1(ALMS1):c.4852A>G (p.Ser1618Gly)
|
rs2103784176
|
|
NM_001378454.1(ALMS1):c.4864G>C (p.Glu1622Gln)
|
|
|
NM_001378454.1(ALMS1):c.486G>T (p.Met162Ile)
|
rs1671237621
|
|
NM_001378454.1(ALMS1):c.4873A>G (p.Ile1625Val)
|
|
|
NM_001378454.1(ALMS1):c.4879T>A (p.Phe1627Ile)
|
|
|
NM_001378454.1(ALMS1):c.4916A>C (p.Lys1639Thr)
|
|
|
NM_001378454.1(ALMS1):c.4922T>A (p.Val1641Asp)
|
|
|
NM_001378454.1(ALMS1):c.4923_4925del (p.Val1642del)
|
|
|
NM_001378454.1(ALMS1):c.4936G>A (p.Ala1646Thr)
|
rs1461831032
|
|
NM_001378454.1(ALMS1):c.4939G>T (p.Ala1647Ser)
|
rs1671938334
|
|
NM_001378454.1(ALMS1):c.4940C>G (p.Ala1647Gly)
|
rs2103784552
|
|
NM_001378454.1(ALMS1):c.4942C>T (p.Pro1648Ser)
|
|
|
NM_001378454.1(ALMS1):c.4947A>G (p.Gly1649=)
|
|
|
NM_001378454.1(ALMS1):c.4952C>T (p.Ala1651Val)
|
|
|
NM_001378454.1(ALMS1):c.496C>G (p.Gln166Glu)
|
rs2103701341
|
|
NM_001378454.1(ALMS1):c.4982A>C (p.His1661Pro)
|
|
|
NM_001378454.1(ALMS1):c.4987A>C (p.Thr1663Pro)
|
|
|
NM_001378454.1(ALMS1):c.4999A>T (p.Asn1667Tyr)
|
|
|
NM_001378454.1(ALMS1):c.5001T>C (p.Asn1667=)
|
|
|
NM_001378454.1(ALMS1):c.5002A>G (p.Arg1668Gly)
|
rs2103784813
|
|
NM_001378454.1(ALMS1):c.5004G>T (p.Arg1668Ser)
|
|
|
NM_001378454.1(ALMS1):c.5005G>A (p.Gly1669Arg)
|
|
|
NM_001378454.1(ALMS1):c.5027A>G (p.Gln1676Arg)
|
|
|
NM_001378454.1(ALMS1):c.5045G>C (p.Ser1682Thr)
|
|
|
NM_001378454.1(ALMS1):c.5054C>T (p.Pro1685Leu)
|
|
|
NM_001378454.1(ALMS1):c.5056G>A (p.Glu1686Lys)
|
|
|
NM_001378454.1(ALMS1):c.5057A>G (p.Glu1686Gly)
|
rs947249342
|
|
NM_001378454.1(ALMS1):c.5075C>T (p.Pro1692Leu)
|
|
|
NM_001378454.1(ALMS1):c.5087G>A (p.Gly1696Glu)
|
|
|
NM_001378454.1(ALMS1):c.5090C>T (p.Pro1697Leu)
|
rs2103785051
|
|
NM_001378454.1(ALMS1):c.5095G>A (p.Ala1699Thr)
|
rs1553404004
|
|
NM_001378454.1(ALMS1):c.5095G>T (p.Ala1699Ser)
|
rs1553404004
|
|
NM_001378454.1(ALMS1):c.50_51insAGAGGA (p.Glu27_Glu28dup)
|
rs1491245339
|
|
NM_001378454.1(ALMS1):c.5111C>T (p.Thr1704Ile)
|
rs755683870
|
|
NM_001378454.1(ALMS1):c.5114C>T (p.Pro1705Leu)
|
|
|
NM_001378454.1(ALMS1):c.5125T>G (p.Ser1709Ala)
|
|
|
NM_001378454.1(ALMS1):c.5129G>C (p.Ser1710Thr)
|
rs1671942849
|
|
NM_001378454.1(ALMS1):c.5140T>G (p.Tyr1714Asp)
|
|
|
NM_001378454.1(ALMS1):c.5164T>C (p.Tyr1722His)
|
|
|
NM_001378454.1(ALMS1):c.5165A>T (p.Tyr1722Phe)
|
|
|
NM_001378454.1(ALMS1):c.5173G>A (p.Ala1725Thr)
|
rs763052163
|
|
NM_001378454.1(ALMS1):c.517A>G (p.Thr173Ala)
|
|
|
NM_001378454.1(ALMS1):c.5180C>T (p.Pro1727Leu)
|
|
|
NM_001378454.1(ALMS1):c.5182G>A (p.Asp1728Asn)
|
|
|
NM_001378454.1(ALMS1):c.5186G>T (p.Ser1729Ile)
|
rs2103785437
|
|
NM_001378454.1(ALMS1):c.5191C>G (p.Leu1731Val)
|
|
|
NM_001378454.1(ALMS1):c.5197C>G (p.Gln1733Glu)
|
|
|
NM_001378454.1(ALMS1):c.5198AAG[1] (p.Glu1734del)
|
rs1553404031
|
|
NM_001378454.1(ALMS1):c.5203G>C (p.Ala1735Pro)
|
|
|
NM_001378454.1(ALMS1):c.5209A>G (p.Lys1737Glu)
|
rs2103785554
|
|
NM_001378454.1(ALMS1):c.5216C>T (p.Ser1739Leu)
|
|
|
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu)
|
rs962844498
|
|
NM_001378454.1(ALMS1):c.5224C>G (p.Pro1742Ala)
|
|
|
NM_001378454.1(ALMS1):c.5243A>G (p.Lys1748Arg)
|
|
|
NM_001378454.1(ALMS1):c.5251_5391del (p.Leu1751_Gly1797del)
|
rs2103785632
|
|
NM_001378454.1(ALMS1):c.5267C>T (p.Ser1756Phe)
|
|
|
NM_001378454.1(ALMS1):c.5273T>C (p.Phe1758Ser)
|
|
|
NM_001378454.1(ALMS1):c.5274C>A (p.Phe1758Leu)
|
rs2103785773
|
|
NM_001378454.1(ALMS1):c.5284A>G (p.Thr1762Ala)
|
|
|
NM_001378454.1(ALMS1):c.528T>A (p.Asn176Lys)
|
|
|
NM_001378454.1(ALMS1):c.5294C>G (p.Pro1765Arg)
|
rs1328622266
|
|
NM_001378454.1(ALMS1):c.5309A>G (p.Gln1770Arg)
|
rs2103785989
|
|
NM_001378454.1(ALMS1):c.5314G>C (p.Glu1772Gln)
|
rs2103786011
|
|
NM_001378454.1(ALMS1):c.5320C>T (p.Pro1774Ser)
|
rs2103786033
|
|
NM_001378454.1(ALMS1):c.5327G>A (p.Ser1776Asn)
|
rs182614909
|
|
NM_001378454.1(ALMS1):c.532A>G (p.Arg178Gly)
|
rs2103701456
|
|
NM_001378454.1(ALMS1):c.5330A>G (p.His1777Arg)
|
|
|
NM_001378454.1(ALMS1):c.5345C>T (p.Ala1782Val)
|
|
|
NM_001378454.1(ALMS1):c.5350A>G (p.Lys1784Glu)
|
|
|
NM_001378454.1(ALMS1):c.5365C>T (p.Pro1789Ser)
|
rs1479555928
|
|
NM_001378454.1(ALMS1):c.5369G>T (p.Gly1790Val)
|
|
|
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile)
|
rs1131691296
|
|
NM_001378454.1(ALMS1):c.5381A>G (p.Gln1794Arg)
|
|
|
NM_001378454.1(ALMS1):c.5386A>G (p.Thr1796Ala)
|
|
|
NM_001378454.1(ALMS1):c.5390G>C (p.Gly1797Ala)
|
rs1225146552
|
|
NM_001378454.1(ALMS1):c.5391_5525del (p.Val1798_Gly1842del)
|
|
|
NM_001378454.1(ALMS1):c.5401G>A (p.Val1801Ile)
|
|
|
NM_001378454.1(ALMS1):c.5402T>C (p.Val1801Ala)
|
|
|
NM_001378454.1(ALMS1):c.5413T>C (p.Ser1805Pro)
|
|
|
NM_001378454.1(ALMS1):c.5414C>T (p.Ser1805Phe)
|
rs2103786414
|
|
NM_001378454.1(ALMS1):c.5417A>C (p.Tyr1806Ser)
|
|
|
NM_001378454.1(ALMS1):c.5417A>G (p.Tyr1806Cys)
|
rs374046216
|
|
NM_001378454.1(ALMS1):c.5422C>T (p.His1808Tyr)
|
rs1572936601
|
|
NM_001378454.1(ALMS1):c.542A>G (p.Asp181Gly)
|
|
|
NM_001378454.1(ALMS1):c.5440G>T (p.Val1814Phe)
|
|
|
NM_001378454.1(ALMS1):c.5441T>C (p.Val1814Ala)
|
rs2103786511
|
|
NM_001378454.1(ALMS1):c.5450A>G (p.Gln1817Arg)
|
|
|
NM_001378454.1(ALMS1):c.5453G>A (p.Arg1818Gln)
|
rs200925575
|
|
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
|
rs200925575
|
|
NM_001378454.1(ALMS1):c.5454A>C (p.Arg1818=)
|
|
|
NM_001378454.1(ALMS1):c.5464C>T (p.His1822Tyr)
|
|
|
NM_001378454.1(ALMS1):c.5480G>C (p.Gly1827Ala)
|
|
|
NM_001378454.1(ALMS1):c.5486A>C (p.Lys1829Thr)
|
|
|
NM_001378454.1(ALMS1):c.5488A>G (p.Ile1830Val)
|
|
|
NM_001378454.1(ALMS1):c.5488A>T (p.Ile1830Phe)
|
|
|
NM_001378454.1(ALMS1):c.5510_5512del (p.Ala1837del)
|
rs2103786773
|
|
NM_001378454.1(ALMS1):c.5511T>C (p.Ala1837=)
|
|
|
NM_001378454.1(ALMS1):c.5515C>G (p.Gln1839Glu)
|
rs1252756270
|
|
NM_001378454.1(ALMS1):c.5533A>G (p.Ile1845Val)
|
|
|
NM_001378454.1(ALMS1):c.5539C>A (p.Pro1847Thr)
|
rs752756030
|
|
NM_001378454.1(ALMS1):c.5539C>T (p.Pro1847Ser)
|
rs752756030
|
|
NM_001378454.1(ALMS1):c.5566C>T (p.His1856Tyr)
|
|
|
NM_001378454.1(ALMS1):c.5582A>G (p.Tyr1861Cys)
|
rs556743491
|
|
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys)
|
rs939208094
|
|
NM_001378454.1(ALMS1):c.55_56insCGG (p.Glu18_Glu19insAla)
|
|
|
NM_001378454.1(ALMS1):c.5600A>G (p.Asp1867Gly)
|
|
|
NM_001378454.1(ALMS1):c.5612T>G (p.Val1871Gly)
|
|
|
NM_001378454.1(ALMS1):c.5623G>A (p.Ala1875Thr)
|
rs768147561
|
|
NM_001378454.1(ALMS1):c.5641C>T (p.Pro1881Ser)
|
|
|
NM_001378454.1(ALMS1):c.5645C>T (p.Ala1882Val)
|
|
|
NM_001378454.1(ALMS1):c.564C>A (p.Pro188=)
|
|
|
NM_001378454.1(ALMS1):c.566C>T (p.Ser189Phe)
|
|
|
NM_001378454.1(ALMS1):c.5681G>T (p.Ser1894Ile)
|
|
|
NM_001378454.1(ALMS1):c.5687A>G (p.Tyr1896Cys)
|
|
|
NM_001378454.1(ALMS1):c.5690C>T (p.Ser1897Leu)
|
|
|
NM_001378454.1(ALMS1):c.5698G>A (p.Glu1900Lys)
|
|
|
NM_001378454.1(ALMS1):c.5704G>A (p.Ala1902Thr)
|
rs1254278225
|
|
NM_001378454.1(ALMS1):c.5709T>C (p.Ser1903=)
|
|
|
NM_001378454.1(ALMS1):c.5714T>G (p.Phe1905Cys)
|
rs1553404125
|
|
NM_001378454.1(ALMS1):c.5720A>G (p.Gln1907Arg)
|
|
|
NM_001378454.1(ALMS1):c.5732C>T (p.Pro1911Leu)
|
rs1671960359
|
|
NM_001378454.1(ALMS1):c.5741C>T (p.Thr1914Ile)
|
|
|
NM_001378454.1(ALMS1):c.574G>A (p.Glu192Lys)
|
|
|
NM_001378454.1(ALMS1):c.5752T>C (p.Leu1918=)
|
|
|
NM_001378454.1(ALMS1):c.5764G>T (p.Val1922Phe)
|
|
|
NM_001378454.1(ALMS1):c.5767G>A (p.Val1923Ile)
|
rs772665115
|
|
NM_001378454.1(ALMS1):c.5771C>G (p.Pro1924Arg)
|
|
|
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp)
|
rs938557636
|
|
NM_001378454.1(ALMS1):c.5800C>T (p.Pro1934Ser)
|
|
|
NM_001378454.1(ALMS1):c.5801C>T (p.Pro1934Leu)
|
|
|
NM_001378454.1(ALMS1):c.5806G>A (p.Val1936Ile)
|
|
|
NM_001378454.1(ALMS1):c.5809C>G (p.Pro1937Ala)
|
|
|
NM_001378454.1(ALMS1):c.5814A>C (p.Leu1938Phe)
|
rs1432463036
|
|
NM_001378454.1(ALMS1):c.5815A>G (p.Ser1939Gly)
|
|
|
NM_001378454.1(ALMS1):c.5818T>G (p.Tyr1940Asp)
|
|
|
NM_001378454.1(ALMS1):c.5819A>C (p.Tyr1940Ser)
|
|
|
NM_001378454.1(ALMS1):c.5822A>G (p.Tyr1941Cys)
|
rs374676136
|
|
NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser)
|
rs370398704
|
|
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu)
|
rs146669152
|
|
NM_001378454.1(ALMS1):c.5830A>G (p.Arg1944Gly)
|
|
|
NM_001378454.1(ALMS1):c.5831G>A (p.Arg1944Lys)
|
rs2103787852
|
|
NM_001378454.1(ALMS1):c.5843G>T (p.Ser1948Ile)
|
rs1300252739
|
|
NM_001378454.1(ALMS1):c.5848A>G (p.Ile1950Val)
|
rs140062566
|
|
NM_001378454.1(ALMS1):c.5867C>A (p.Pro1956Gln)
|
rs1671963819
|
|
NM_001378454.1(ALMS1):c.5870A>G (p.Asp1957Gly)
|
rs1464393698
|
|
NM_001378454.1(ALMS1):c.5877T>A (p.His1959Gln)
|
|
|
NM_001378454.1(ALMS1):c.5881A>T (p.Thr1961Ser)
|
rs1249655262
|
|
NM_001378454.1(ALMS1):c.5894T>G (p.Leu1965Arg)
|
|
|
NM_001378454.1(ALMS1):c.58G>A (p.Glu20Lys)
|
|
|
NM_001378454.1(ALMS1):c.5904_5912del (p.Pro1969_Ser1971del)
|
rs1060500042
|
|
NM_001378454.1(ALMS1):c.5917C>T (p.Pro1973Ser)
|
|
|
NM_001378454.1(ALMS1):c.591A>C (p.Gln197His)
|
|
|
NM_001378454.1(ALMS1):c.5931G>T (p.Lys1977Asn)
|
|
|
NM_001378454.1(ALMS1):c.5935G>A (p.Gly1979Arg)
|
rs1671966142
|
|
NM_001378454.1(ALMS1):c.5944A>G (p.Ile1982Val)
|
|
|
NM_001378454.1(ALMS1):c.5952_5954del (p.Ser1987del)
|
|
|
NM_001378454.1(ALMS1):c.5956_5957delinsGT (p.Ser1986Val)
|
rs2103788302
|
|
NM_001378454.1(ALMS1):c.5963A>G (p.Tyr1988Cys)
|
rs757977017
|
|
NM_001378454.1(ALMS1):c.5968C>T (p.His1990Tyr)
|
|
|
NM_001378454.1(ALMS1):c.596A>G (p.Glu199Gly)
|
rs1553399974
|
|
NM_001378454.1(ALMS1):c.5976T>G (p.His1992Gln)
|
rs2103788393
|
|
NM_001378454.1(ALMS1):c.6004_6090dup (p.His2002_Val2030dup)
|
rs2103788416
|
|
NM_001378454.1(ALMS1):c.6008T>C (p.Ile2003Thr)
|
|
|
NM_001378454.1(ALMS1):c.6009A>G (p.Ile2003Met)
|
|
|
NM_001378454.1(ALMS1):c.6016G>A (p.Asp2006Asn)
|
rs1671968768
|
|
NM_001378454.1(ALMS1):c.6024A>C (p.Lys2008Asn)
|
rs1671969063
|
|
NM_001378454.1(ALMS1):c.6025A>T (p.Thr2009Ser)
|
rs2103788606
|
|
NM_001378454.1(ALMS1):c.6035C>G (p.Pro2012Arg)
|
rs750993966
|
|
NM_001378454.1(ALMS1):c.6035C>T (p.Pro2012Leu)
|
|
|
NM_001378454.1(ALMS1):c.6041C>T (p.Ala2014Val)
|
|
|
NM_001378454.1(ALMS1):c.6056A>G (p.Tyr2019Cys)
|
|
|
NM_001378454.1(ALMS1):c.6066A>G (p.Ile2022Met)
|
rs780333829
|
|
NM_001378454.1(ALMS1):c.6085A>T (p.Thr2029Ser)
|
rs759478895
|
|
NM_001378454.1(ALMS1):c.608A>G (p.Lys203Arg)
|
|
|
NM_001378454.1(ALMS1):c.6093T>G (p.Ile2031Met)
|
rs2103788896
|
|
NM_001378454.1(ALMS1):c.6094G>A (p.Gly2032Arg)
|
rs1671971419
|
|
NM_001378454.1(ALMS1):c.60_61insAAGGAG (p.Glu20_Glu21insLysGlu)
|
rs2104057268
|
|
NM_001378454.1(ALMS1):c.60_61insCAG (p.Glu20_Glu21insGln)
|
rs1553396137
|
|
NM_001378454.1(ALMS1):c.6100A>G (p.Asn2034Asp)
|
rs1206923047
|
|
NM_001378454.1(ALMS1):c.6107A>G (p.Gln2036Arg)
|
|
|
NM_001378454.1(ALMS1):c.6111G>T (p.Lys2037Asn)
|
|
|
NM_001378454.1(ALMS1):c.6123G>C (p.Gln2041His)
|
|
|
NM_001378454.1(ALMS1):c.6125C>T (p.Thr2042Ile)
|
|
|
NM_001378454.1(ALMS1):c.6134A>G (p.His2045Arg)
|
|
|
NM_001378454.1(ALMS1):c.6143A>C (p.Tyr2048Ser)
|
rs201162418
|
|
NM_001378454.1(ALMS1):c.6151A>G (p.Thr2051Ala)
|
rs2103789073
|
|
NM_001378454.1(ALMS1):c.6152C>T (p.Thr2051Ile)
|
|
|
NM_001378454.1(ALMS1):c.6158A>T (p.Lys2053Met)
|
|
|
NM_001378454.1(ALMS1):c.6161C>G (p.Pro2054Arg)
|
|
|
NM_001378454.1(ALMS1):c.6164A>G (p.Asn2055Ser)
|
|
|
NM_001378454.1(ALMS1):c.6164A>T (p.Asn2055Ile)
|
rs772187394
|
|
NM_001378454.1(ALMS1):c.6168T>G (p.Ile2056Met)
|
rs775610057
|
|
NM_001378454.1(ALMS1):c.6171A>T (p.Leu2057Phe)
|
rs2103789184
|
|
NM_001378454.1(ALMS1):c.6182A>T (p.Gln2061Leu)
|
|
|
NM_001378454.1(ALMS1):c.6183G>T (p.Gln2061His)
|
|
|
NM_001378454.1(ALMS1):c.6192T>A (p.Asp2064Glu)
|
|
|
NM_001378454.1(ALMS1):c.6194G>A (p.Arg2065Lys)
|
rs2103789247
|
|
NM_001378454.1(ALMS1):c.6209G>T (p.Gly2070Val)
|
|
|
NM_001378454.1(ALMS1):c.6211A>G (p.Ile2071Val)
|
rs1020163869
|
|
NM_001378454.1(ALMS1):c.6215T>C (p.Leu2072Pro)
|
rs1382952433
|
|
NM_001378454.1(ALMS1):c.6221T>G (p.Ile2074Ser)
|
|
|
NM_001378454.1(ALMS1):c.6226G>T (p.Ala2076Ser)
|
|
|
NM_001378454.1(ALMS1):c.6229G>C (p.Val2077Leu)
|
rs779402813
|
|
NM_001378454.1(ALMS1):c.6232C>T (p.Pro2078Ser)
|
rs1050140750
|
|
NM_001378454.1(ALMS1):c.6235G>A (p.Glu2079Lys)
|
rs758696535
|
|
NM_001378454.1(ALMS1):c.6238C>G (p.Leu2080Val)
|
|
|
NM_001378454.1(ALMS1):c.624T>A (p.Asp208Glu)
|
rs1671241779
|
|
NM_001378454.1(ALMS1):c.6254C>T (p.Thr2085Ile)
|
rs1266867585
|
|
NM_001378454.1(ALMS1):c.6275C>G (p.Ser2092Cys)
|
rs749180234
|
|
NM_001378454.1(ALMS1):c.6277A>G (p.Ser2093Gly)
|
rs2103789537
|
|
NM_001378454.1(ALMS1):c.6292A>G (p.Arg2098Gly)
|
|
|
NM_001378454.1(ALMS1):c.6296_6301del (p.Glu2099_Ser2101delinsAla)
|
|
|
NM_001378454.1(ALMS1):c.6317C>T (p.Pro2106Leu)
|
|
|
NM_001378454.1(ALMS1):c.6320A>G (p.Gln2107Arg)
|
|
|
NM_001378454.1(ALMS1):c.6323A>G (p.Glu2108Gly)
|
|
|
NM_001378454.1(ALMS1):c.6328C>T (p.Pro2110Ser)
|
rs1243321319
|
|
NM_001378454.1(ALMS1):c.632G>C (p.Cys211Ser)
|
|
|
NM_001378454.1(ALMS1):c.635C>T (p.Ser212Phe)
|
rs2103701987
|
|
NM_001378454.1(ALMS1):c.6361G>T (p.Val2121Phe)
|
|
|
NM_001378454.1(ALMS1):c.6380C>T (p.Pro2127Leu)
|
rs2103789910
|
|
NM_001378454.1(ALMS1):c.6397G>T (p.Val2133Leu)
|
|
|
NM_001378454.1(ALMS1):c.6406_6408dup (p.Thr2136_Ala2137insThr)
|
|
|
NM_001378454.1(ALMS1):c.6409G>C (p.Ala2137Pro)
|
rs2103789992
|
|
NM_001378454.1(ALMS1):c.6419G>C (p.Ser2140Thr)
|
rs1671979572
|
|
NM_001378454.1(ALMS1):c.6422C>T (p.Ser2141Phe)
|
|
|
NM_001378454.1(ALMS1):c.6433C>G (p.Arg2145Gly)
|
|
|
NM_001378454.1(ALMS1):c.6448A>G (p.Ile2150Val)
|
|
|
NM_001378454.1(ALMS1):c.6455A>G (p.Tyr2152Cys)
|
|
|
NM_001378454.1(ALMS1):c.6455A>T (p.Tyr2152Phe)
|
|
|
NM_001378454.1(ALMS1):c.645A>G (p.Leu215=)
|
|
|
NM_001378454.1(ALMS1):c.646+3A>G
|
rs1553399994
|
|
NM_001378454.1(ALMS1):c.647-3C>T
|
rs1671310064
|
|
NM_001378454.1(ALMS1):c.6472G>A (p.Asp2158Asn)
|
rs545636120
|
|
NM_001378454.1(ALMS1):c.6479A>G (p.His2160Arg)
|
rs781245006
|
|
NM_001378454.1(ALMS1):c.64_65insTGG (p.Glu21_Glu22insVal)
|
rs1553396144
|
|
NM_001378454.1(ALMS1):c.6502A>G (p.Ile2168Val)
|
|
|
NM_001378454.1(ALMS1):c.650T>C (p.Ile217Thr)
|
|
|
NM_001378454.1(ALMS1):c.6514C>T (p.Leu2172Phe)
|
|
|
NM_001378454.1(ALMS1):c.6524C>T (p.Ala2175Val)
|
rs549259627
|
|
NM_001378454.1(ALMS1):c.6535A>G (p.Thr2179Ala)
|
rs907136479
|
|
NM_001378454.1(ALMS1):c.6538G>C (p.Gly2180Arg)
|
rs145953016
|
|
NM_001378454.1(ALMS1):c.653A>G (p.Gln218Arg)
|
|
|
NM_001378454.1(ALMS1):c.6550G>A (p.Val2184Ile)
|
|
|
NM_001378454.1(ALMS1):c.6566A>G (p.Tyr2189Cys)
|
|
|
NM_001378454.1(ALMS1):c.6572A>G (p.His2191Arg)
|
|
|
NM_001378454.1(ALMS1):c.6587A>G (p.Lys2196Arg)
|
rs2103790737
|
|
NM_001378454.1(ALMS1):c.658A>G (p.Ser220Gly)
|
rs2103710382
|
|
NM_001378454.1(ALMS1):c.6590T>G (p.Leu2197Arg)
|
rs2103790750
|
|
NM_001378454.1(ALMS1):c.659G>A (p.Ser220Asn)
|
rs2103710395
|
|
NM_001378454.1(ALMS1):c.6612G>C (p.Arg2204Ser)
|
rs758379924
|
|
NM_001378454.1(ALMS1):c.6612G>T (p.Arg2204Ser)
|
|
|
NM_001378454.1(ALMS1):c.6615A>C (p.Leu2205=)
|
|
|
NM_001378454.1(ALMS1):c.6617T>G (p.Ile2206Arg)
|
rs1671985244
|
|
NM_001378454.1(ALMS1):c.6627G>C (p.Leu2209Phe)
|
|
|
NM_001378454.1(ALMS1):c.6632C>A (p.Ser2211Tyr)
|
rs1357695377
|
|
NM_001378454.1(ALMS1):c.6637G>C (p.Asp2213His)
|
|
|
NM_001378454.1(ALMS1):c.6649A>G (p.Ser2217Gly)
|
|
|
NM_001378454.1(ALMS1):c.665C>T (p.Ala222Val)
|
|
|
NM_001378454.1(ALMS1):c.6668T>C (p.Leu2223Ser)
|
|
|
NM_001378454.1(ALMS1):c.6679G>A (p.Ala2227Thr)
|
|
|
NM_001378454.1(ALMS1):c.6679G>C (p.Ala2227Pro)
|
rs1671986679
|
|
NM_001378454.1(ALMS1):c.6688A>G (p.Arg2230Gly)
|
|
|
NM_001378454.1(ALMS1):c.6689G>C (p.Arg2230Thr)
|
rs1671986841
|
|
NM_001378454.1(ALMS1):c.66_67insAAG (p.Glu22_Glu23insLys)
|
|
|
NM_001378454.1(ALMS1):c.66_67insAAGGAG (p.Glu22_Glu23insLysGlu)
|
rs1553396142
|
|
NM_001378454.1(ALMS1):c.6706C>T (p.Pro2236Ser)
|
rs200724860
|
|
NM_001378454.1(ALMS1):c.6716C>T (p.Ala2239Val)
|
|
|
NM_001378454.1(ALMS1):c.6717A>G (p.Ala2239=)
|
|
|
NM_001378454.1(ALMS1):c.6729T>A (p.Asp2243Glu)
|
|
|
NM_001378454.1(ALMS1):c.6731T>C (p.Val2244Ala)
|
rs1671987655
|
|
NM_001378454.1(ALMS1):c.6745A>T (p.Ile2249Phe)
|
rs946232848
|
|
NM_001378454.1(ALMS1):c.6766G>C (p.Ala2256Pro)
|
|
|
NM_001378454.1(ALMS1):c.6770A>G (p.Lys2257Arg)
|
|
|
NM_001378454.1(ALMS1):c.6775C>G (p.Leu2259Val)
|
rs748833907
|
|
NM_001378454.1(ALMS1):c.6787C>T (p.Arg2263Trp)
|
|
|
NM_001378454.1(ALMS1):c.6788G>A (p.Arg2263Gln)
|
|
|
NM_001378454.1(ALMS1):c.6799A>T (p.Met2267Leu)
|
|
|
NM_001378454.1(ALMS1):c.6803A>G (p.Glu2268Gly)
|
|
|
NM_001378454.1(ALMS1):c.6811A>G (p.Asn2271Asp)
|
rs1558651314
|
|
NM_001378454.1(ALMS1):c.6816G>T (p.Met2272Ile)
|
rs765233946
|
|
NM_001378454.1(ALMS1):c.6829T>C (p.Cys2277Arg)
|
rs1671989930
|
|
NM_001378454.1(ALMS1):c.6831C>G (p.Cys2277Trp)
|
rs761713440
|
|
NM_001378454.1(ALMS1):c.6848T>G (p.Leu2283Arg)
|
rs1442336894
|
|
NM_001378454.1(ALMS1):c.6850G>C (p.Ala2284Pro)
|
|
|
NM_001378454.1(ALMS1):c.6853C>G (p.Arg2285Gly)
|
rs375458331
|
|
NM_001378454.1(ALMS1):c.6854G>A (p.Arg2285His)
|
rs6546839
|
|
NM_001378454.1(ALMS1):c.6856T>C (p.Phe2286Leu)
|
|
|
NM_001378454.1(ALMS1):c.6858C>T (p.Phe2286=)
|
|
|
NM_001378454.1(ALMS1):c.686T>C (p.Leu229Pro)
|
|
|
NM_001378454.1(ALMS1):c.6886C>G (p.Gln2296Glu)
|
rs747355678
|
|
NM_001378454.1(ALMS1):c.688A>G (p.Thr230Ala)
|
rs2103710477
|
|
NM_001378454.1(ALMS1):c.6899T>C (p.Val2300Ala)
|
rs1057523384
|
|
NM_001378454.1(ALMS1):c.68_69insAGA (p.Glu28_Ala29insGlu)
|
|
|
NM_001378454.1(ALMS1):c.68_69insAGAGGAGGAGGA (p.Glu25_Glu28dup)
|
rs2104057317
|
|
NM_001378454.1(ALMS1):c.68_69insAGAGGAGGAGGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGluGluGluGlu)
|
|
|
NM_001378454.1(ALMS1):c.6901G>A (p.Val2301Ile)
|
rs1671992482
|
|
NM_001378454.1(ALMS1):c.6916C>T (p.Pro2306Ser)
|
|
|
NM_001378454.1(ALMS1):c.6917C>G (p.Pro2306Arg)
|
|
|
NM_001378454.1(ALMS1):c.6923C>A (p.Ser2308Tyr)
|
|
|
NM_001378454.1(ALMS1):c.6944A>T (p.Asp2315Val)
|
rs2103792016
|
|
NM_001378454.1(ALMS1):c.6948G>T (p.Leu2316Phe)
|
|
|
NM_001378454.1(ALMS1):c.6968C>T (p.Thr2323Ile)
|
rs1671994565
|
|
NM_001378454.1(ALMS1):c.6971A>G (p.Glu2324Gly)
|
|
|
NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu23_Glu24insLys)
|
rs1006328829
|
|
NM_001378454.1(ALMS1):c.7000A>G (p.Lys2334Glu)
|
|
|
NM_001378454.1(ALMS1):c.7006A>G (p.Ile2336Val)
|
|
|
NM_001378454.1(ALMS1):c.7007T>C (p.Ile2336Thr)
|
rs746208159
|
|
NM_001378454.1(ALMS1):c.7007T>G (p.Ile2336Ser)
|
|
|
NM_001378454.1(ALMS1):c.7019C>T (p.Thr2340Met)
|
|
|
NM_001378454.1(ALMS1):c.7084C>T (p.Pro2362Ser)
|
rs2103792526
|
|
NM_001378454.1(ALMS1):c.7087C>G (p.Leu2363Val)
|
|
|
NM_001378454.1(ALMS1):c.7093G>A (p.Glu2365Lys)
|
rs1572938591
|
|
NM_001378454.1(ALMS1):c.70_71insCGG (p.Glu23_Glu24insAla)
|
rs1442274468
|
|
NM_001378454.1(ALMS1):c.7103G>A (p.Ser2368Asn)
|
rs781640600
|
|
NM_001378454.1(ALMS1):c.7105A>G (p.Lys2369Glu)
|
rs2103792593
|
|
NM_001378454.1(ALMS1):c.710A>G (p.Glu237Gly)
|
rs2103710589
|
|
NM_001378454.1(ALMS1):c.7111A>C (p.Ser2371Arg)
|
rs2103792619
|
|
NM_001378454.1(ALMS1):c.7145A>G (p.Gln2382Arg)
|
|
|
NM_001378454.1(ALMS1):c.7160_7161delinsGT (p.Val2387Gly)
|
rs2103792865
|
|
NM_001378454.1(ALMS1):c.7167G>T (p.Arg2389Ser)
|
rs1553404408
|
|
NM_001378454.1(ALMS1):c.7175C>T (p.Pro2392Leu)
|
rs1384040049
|
|
NM_001378454.1(ALMS1):c.7184G>A (p.Cys2395Tyr)
|
|
|
NM_001378454.1(ALMS1):c.718C>T (p.Pro240Ser)
|
|
|
NM_001378454.1(ALMS1):c.7193C>A (p.Thr2398Asn)
|
rs200470452
|
|
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile)
|
rs200470452
|
|
NM_001378454.1(ALMS1):c.719C>T (p.Pro240Leu)
|
|
|
NM_001378454.1(ALMS1):c.71_72insAGA (p.Glu28dup)
|
rs2104057693
|
|
NM_001378454.1(ALMS1):c.7209TAT[1] (p.Ile2405del)
|
|
|
NM_001378454.1(ALMS1):c.7219A>G (p.Met2407Val)
|
rs1198704030
|
|
NM_001378454.1(ALMS1):c.7227T>A (p.Thr2409=)
|
rs768032353
|
|
NM_001378454.1(ALMS1):c.7246A>G (p.Ser2416Gly)
|
|
|
NM_001378454.1(ALMS1):c.7250G>C (p.Ser2417Thr)
|
|
|
NM_001378454.1(ALMS1):c.7250G>T (p.Ser2417Ile)
|
|
|
NM_001378454.1(ALMS1):c.7256C>T (p.Ala2419Val)
|
rs1672001133
|
|
NM_001378454.1(ALMS1):c.725C>A (p.Ser242Tyr)
|
|
|
NM_001378454.1(ALMS1):c.725C>G (p.Ser242Cys)
|
|
|
NM_001378454.1(ALMS1):c.7277G>T (p.Cys2426Phe)
|
rs35649068
|
|
NM_001378454.1(ALMS1):c.7280C>T (p.Ser2427Leu)
|
|
|
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly)
|
rs539112266
|
|
NM_001378454.1(ALMS1):c.728T>C (p.Leu243Ser)
|
rs2103710678
|
|
NM_001378454.1(ALMS1):c.7298C>G (p.Pro2433Arg)
|
rs2103793431
|
|
NM_001378454.1(ALMS1):c.7310A>T (p.Glu2437Val)
|
|
|
NM_001378454.1(ALMS1):c.7315G>C (p.Val2439Leu)
|
|
|
NM_001378454.1(ALMS1):c.7332_7333insGGA (p.Leu2444_Asn2445insGly)
|
rs2103793539
|
|
NM_001378454.1(ALMS1):c.7346A>G (p.Tyr2449Cys)
|
rs766767334
|
|
NM_001378454.1(ALMS1):c.7361C>T (p.Thr2454Ile)
|
|
|
NM_001378454.1(ALMS1):c.7370C>T (p.Thr2457Ile)
|
|
|
NM_001378454.1(ALMS1):c.7375A>G (p.Ser2459Gly)
|
|
|
NM_001378454.1(ALMS1):c.7377C>T (p.Ser2459=)
|
rs867561704
|
|
NM_001378454.1(ALMS1):c.737A>C (p.Gln246Pro)
|
rs779584471
|
|
NM_001378454.1(ALMS1):c.7381G>C (p.Glu2461Gln)
|
|
|
NM_001378454.1(ALMS1):c.7388A>G (p.Glu2463Gly)
|
|
|
NM_001378454.1(ALMS1):c.7391G>A (p.Gly2464Asp)
|
rs779815578
|
|
NM_001378454.1(ALMS1):c.7406A>G (p.Glu2469Gly)
|
|
|
NM_001378454.1(ALMS1):c.7407G>T (p.Glu2469Asp)
|
|
|
NM_001378454.1(ALMS1):c.7412G>T (p.Gly2471Val)
|
rs1672005992
|
|
NM_001378454.1(ALMS1):c.7418G>A (p.Gly2473Asp)
|
rs1348368424
|
|
NM_001378454.1(ALMS1):c.7423A>G (p.Ser2475Gly)
|
rs2103793967
|
|
NM_001378454.1(ALMS1):c.7430A>G (p.Asp2477Gly)
|
|
|
NM_001378454.1(ALMS1):c.7432T>G (p.Ser2478Ala)
|
rs1672006362
|
|
NM_001378454.1(ALMS1):c.7439C>T (p.Ala2480Val)
|
rs2103793995
|
|
NM_001378454.1(ALMS1):c.7444C>A (p.His2482Asn)
|
|
|
NM_001378454.1(ALMS1):c.7448T>A (p.Val2483Glu)
|
|
|
NM_001378454.1(ALMS1):c.7455C>A (p.Asn2485Lys)
|
rs988216695
|
|
NM_001378454.1(ALMS1):c.7457T>C (p.Leu2486Pro)
|
|
|
NM_001378454.1(ALMS1):c.7463A>T (p.Gln2488Leu)
|
|
|
NM_001378454.1(ALMS1):c.7470A>C (p.Glu2490Asp)
|
rs1180605370
|
|
NM_001378454.1(ALMS1):c.7492G>C (p.Glu2498Gln)
|
|
|
NM_001378454.1(ALMS1):c.749G>C (p.Ser250Thr)
|
rs2103710757
|
|
NM_001378454.1(ALMS1):c.74_75insGGAAGA (p.Glu27_Glu28dup)
|
rs1491479006
|
|
NM_001378454.1(ALMS1):c.74_75insGGAAGAGGAGGAGGAGGA (p.Glu23_Glu28dup)
|
rs1182322031
|
|
NM_001378454.1(ALMS1):c.74_75insGGAAGAGGAGGAGGAGGAGGA (p.Glu22_Glu28dup)
|
rs2104057327
|
|
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAAGA (p.Glu28_Ala29insGluGluGluGluGlu)
|
|
|
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu19_Glu28dup)
|
rs2104057327
|
|
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu18_Glu28dup)
|
rs2104057327
|
|
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu28_Ala29insGluGluGluGluGluGluGluGluGluGluGluGluGlu)
|
|
|
NM_001378454.1(ALMS1):c.7507G>A (p.Ala2503Thr)
|
rs202060439
|
|
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser)
|
rs202060439
|
|
NM_001378454.1(ALMS1):c.7532G>A (p.Arg2511Gln)
|
|
|
NM_001378454.1(ALMS1):c.7539_7540insAAT (p.His2513_Ala2514insAsn)
|
rs757932553
|
|
NM_001378454.1(ALMS1):c.7540+3A>G
|
|
|
NM_001378454.1(ALMS1):c.7540+9A>T
|
|
|
NM_001378454.1(ALMS1):c.7541-11T>C
|
|
|
NM_001378454.1(ALMS1):c.7547A>G (p.Asn2516Ser)
|
|
|
NM_001378454.1(ALMS1):c.7553A>G (p.Lys2518Arg)
|
|
|
NM_001378454.1(ALMS1):c.755C>T (p.Ala252Val)
|
rs2103710779
|
|
NM_001378454.1(ALMS1):c.7562T>C (p.Leu2521Ser)
|
|
|
NM_001378454.1(ALMS1):c.7564G>A (p.Ala2522Thr)
|
rs2103797392
|
|
NM_001378454.1(ALMS1):c.7590A>G (p.Ser2530=)
|
|
|
NM_001378454.1(ALMS1):c.7598A>G (p.Asn2533Ser)
|
|
|
NM_001378454.1(ALMS1):c.7599T>G (p.Asn2533Lys)
|
|
|
NM_001378454.1(ALMS1):c.75_77del (p.Glu28del)
|
rs1553396161
|
|
NM_001378454.1(ALMS1):c.75_80dup (p.Glu27_Glu28dup)
|
rs754175473
|
|
NM_001378454.1(ALMS1):c.7600G>A (p.Glu2534Lys)
|
|
|
NM_001378454.1(ALMS1):c.7604A>T (p.Asp2535Val)
|
|
|
NM_001378454.1(ALMS1):c.7629C>G (p.Ile2543Met)
|
|
|
NM_001378454.1(ALMS1):c.762G>A (p.Leu254=)
|
|
|
NM_001378454.1(ALMS1):c.7639T>C (p.Leu2547=)
|
|
|
NM_001378454.1(ALMS1):c.7639T>G (p.Leu2547Val)
|
rs200155429
|
|
NM_001378454.1(ALMS1):c.7641A>G (p.Leu2547=)
|
|
|
NM_001378454.1(ALMS1):c.7642T>C (p.Phe2548Leu)
|
|
|
NM_001378454.1(ALMS1):c.7652G>A (p.Gly2551Glu)
|
|
|
NM_001378454.1(ALMS1):c.7658C>T (p.Thr2553Ile)
|
|
|
NM_001378454.1(ALMS1):c.7660A>G (p.Thr2554Ala)
|
|
|
NM_001378454.1(ALMS1):c.7670C>T (p.Ser2557Phe)
|
rs878855001
|
|
NM_001378454.1(ALMS1):c.7674+16G>A
|
|
|
NM_001378454.1(ALMS1):c.7676G>T (p.Gly2559Val)
|
|
|
NM_001378454.1(ALMS1):c.7682A>G (p.Gln2561Arg)
|
|
|
NM_001378454.1(ALMS1):c.7682A>T (p.Gln2561Leu)
|
|
|
NM_001378454.1(ALMS1):c.7684A>C (p.Ser2562Arg)
|
rs772417159
|
|
NM_001378454.1(ALMS1):c.7684A>G (p.Ser2562Gly)
|
|
|
NM_001378454.1(ALMS1):c.7685G>A (p.Ser2562Asn)
|
rs1672930739
|
|
NM_001378454.1(ALMS1):c.7688C>G (p.Pro2563Arg)
|
|
|
NM_001378454.1(ALMS1):c.7688C>T (p.Pro2563Leu)
|
|
|
NM_001378454.1(ALMS1):c.7690C>G (p.Arg2564Gly)
|
rs554047243
|
|
NM_001378454.1(ALMS1):c.7690C>T (p.Arg2564Trp)
|
|
|
NM_001378454.1(ALMS1):c.7691G>A (p.Arg2564Gln)
|
|
|
NM_001378454.1(ALMS1):c.76G>C (p.Glu26Gln)
|
|
|
NM_001378454.1(ALMS1):c.7709C>G (p.Pro2570Arg)
|
|
|
NM_001378454.1(ALMS1):c.770T>A (p.Ile257Asn)
|
|
|
NM_001378454.1(ALMS1):c.7724G>C (p.Ser2575Thr)
|
|
|
NM_001378454.1(ALMS1):c.7729A>G (p.Ile2577Val)
|
|
|
NM_001378454.1(ALMS1):c.7732A>G (p.Ile2578Val)
|
|
|
NM_001378454.1(ALMS1):c.7735A>T (p.Ile2579Phe)
|
|
|
NM_001378454.1(ALMS1):c.7736T>C (p.Ile2579Thr)
|
|
|
NM_001378454.1(ALMS1):c.7738G>A (p.Glu2580Lys)
|
|
|
NM_001378454.1(ALMS1):c.7739A>G (p.Glu2580Gly)
|
rs2103889306
|
|
NM_001378454.1(ALMS1):c.7740G>C (p.Glu2580Asp)
|
rs543921060
|
|
NM_001378454.1(ALMS1):c.7742G>A (p.Ser2581Asn)
|
|
|
NM_001378454.1(ALMS1):c.7743C>A (p.Ser2581Arg)
|
rs370740871
|
|
NM_001378454.1(ALMS1):c.7744C>T (p.His2582Tyr)
|
rs2103889340
|
|
NM_001378454.1(ALMS1):c.7750A>G (p.Lys2584Glu)
|
rs776783409
|
|
NM_001378454.1(ALMS1):c.7752G>C (p.Lys2584Asn)
|
|
|
NM_001378454.1(ALMS1):c.775G>C (p.Asp259His)
|
|
|
NM_001378454.1(ALMS1):c.7762C>T (p.Arg2588Trp)
|
|
|
NM_001378454.1(ALMS1):c.7763G>A (p.Arg2588Gln)
|
|
|
NM_001378454.1(ALMS1):c.7772C>G (p.Thr2591Ser)
|
rs2103889489
|
|
NM_001378454.1(ALMS1):c.7792G>T (p.Asp2598Tyr)
|
|
|
NM_001378454.1(ALMS1):c.77A>C (p.Glu26Ala)
|
|
|
NM_001378454.1(ALMS1):c.7801C>T (p.Pro2601Ser)
|
rs1553409608
|
|
NM_001378454.1(ALMS1):c.7802C>A (p.Pro2601His)
|
rs2103889598
|
|
NM_001378454.1(ALMS1):c.7810T>G (p.Phe2604Val)
|
rs1220754616
|
|
NM_001378454.1(ALMS1):c.7811T>C (p.Phe2604Ser)
|
rs1672935406
|
|
NM_001378454.1(ALMS1):c.7825C>A (p.Pro2609Thr)
|
rs2103889689
|
|
NM_001378454.1(ALMS1):c.782C>G (p.Ser261Cys)
|
rs1671339296
|
|
NM_001378454.1(ALMS1):c.7836G>A (p.Met2612Ile)
|
|
|
NM_001378454.1(ALMS1):c.7844G>A (p.Gly2615Glu)
|
|
|
NM_001378454.1(ALMS1):c.7847G>A (p.Arg2616Gln)
|
|
|
NM_001378454.1(ALMS1):c.7854C>G (p.Asn2618Lys)
|
|
|
NM_001378454.1(ALMS1):c.7856C>G (p.Pro2619Arg)
|
rs1672936863
|
|
NM_001378454.1(ALMS1):c.786_788dup (p.Glu262_Asp263insGlu)
|
|
|
NM_001378454.1(ALMS1):c.7870G>A (p.Ala2624Thr)
|
|
|
NM_001378454.1(ALMS1):c.7870G>C (p.Ala2624Pro)
|
|
|
NM_001378454.1(ALMS1):c.7878T>A (p.His2626Gln)
|
rs940478567
|
|
NM_001378454.1(ALMS1):c.7888T>G (p.Ser2630Ala)
|
rs1672937962
|
|
NM_001378454.1(ALMS1):c.7898T>C (p.Leu2633Ser)
|
rs2103889971
|
|
NM_001378454.1(ALMS1):c.7901A>G (p.Asp2634Gly)
|
rs1368206928
|
|
NM_001378454.1(ALMS1):c.7904A>G (p.Gln2635Arg)
|
|
|
NM_001378454.1(ALMS1):c.7913C>A (p.Ser2638Tyr)
|
|
|
NM_001378454.1(ALMS1):c.7927T>C (p.Trp2643Arg)
|
|
|
NM_001378454.1(ALMS1):c.793G>A (p.Glu265Lys)
|
|
|
NM_001378454.1(ALMS1):c.7940A>G (p.Gln2647Arg)
|
rs2103890068
|
|
NM_001378454.1(ALMS1):c.7948A>C (p.Ser2650Arg)
|
rs567474729
|
|
NM_001378454.1(ALMS1):c.7957C>G (p.Pro2653Ala)
|
|
|
NM_001378454.1(ALMS1):c.7964A>G (p.Gln2655Arg)
|
|
|
NM_001378454.1(ALMS1):c.7969T>C (p.Phe2657Leu)
|
|
|
NM_001378454.1(ALMS1):c.7975C>T (p.Pro2659Ser)
|
|
|
NM_001378454.1(ALMS1):c.7981G>A (p.Glu2661Lys)
|
rs762452929
|
|
NM_001378454.1(ALMS1):c.7994G>C (p.Ser2665Thr)
|
rs1672940448
|
|
NM_001378454.1(ALMS1):c.7997A>C (p.Lys2666Thr)
|
rs2103890229
|
|
NM_001378454.1(ALMS1):c.7999G>C (p.Gly2667Arg)
|
|
|
NM_001378454.1(ALMS1):c.7C>T (p.Pro3Ser)
|
|
|
NM_001378454.1(ALMS1):c.8002C>T (p.Leu2668Phe)
|
|
|
NM_001378454.1(ALMS1):c.8017_8018delinsCC (p.Asp2673Pro)
|
rs2103890304
|
|
NM_001378454.1(ALMS1):c.8018A>G (p.Asp2673Gly)
|
|
|
NM_001378454.1(ALMS1):c.8019T>A (p.Asp2673Glu)
|
|
|
NM_001378454.1(ALMS1):c.8021A>G (p.Glu2674Gly)
|
|
|
NM_001378454.1(ALMS1):c.8025G>C (p.Lys2675Asn)
|
rs2103890339
|
|
NM_001378454.1(ALMS1):c.8026A>T (p.Met2676Leu)
|
|
|
NM_001378454.1(ALMS1):c.8028G>A (p.Met2676Ile)
|
|
|
NM_001378454.1(ALMS1):c.802T>C (p.Ser268Pro)
|
rs2103714536
|
|
NM_001378454.1(ALMS1):c.8044G>C (p.Glu2682Gln)
|
|
|
NM_001378454.1(ALMS1):c.8057C>T (p.Pro2686Leu)
|
rs1269143077
|
|
NM_001378454.1(ALMS1):c.8068C>G (p.Pro2690Ala)
|
|
|
NM_001378454.1(ALMS1):c.8075AAG[1] (p.Glu2693del)
|
rs1553409676
|
|
NM_001378454.1(ALMS1):c.8089C>T (p.His2697Tyr)
|
rs956487104
|
|
NM_001378454.1(ALMS1):c.812C>T (p.Ser271Leu)
|
|
|
NM_001378454.1(ALMS1):c.8135C>T (p.Thr2712Ile)
|
|
|
NM_001378454.1(ALMS1):c.8143A>G (p.Ile2715Val)
|
|
|
NM_001378454.1(ALMS1):c.8146A>C (p.Thr2716Pro)
|
rs1234404032
|
|
NM_001378454.1(ALMS1):c.8150T>G (p.Phe2717Cys)
|
|
|
NM_001378454.1(ALMS1):c.8152T>C (p.Ser2718Pro)
|
|
|
NM_001378454.1(ALMS1):c.8156C>G (p.Ser2719Cys)
|
rs1572969357
|
|
NM_001378454.1(ALMS1):c.8167T>A (p.Ser2723Thr)
|
|
|
NM_001378454.1(ALMS1):c.816A>G (p.Glu272=)
|
|
|
NM_001378454.1(ALMS1):c.8203G>C (p.Gly2735Arg)
|
rs761136859
|
|
NM_001378454.1(ALMS1):c.820A>T (p.Ser274Cys)
|
|
|
NM_001378454.1(ALMS1):c.8215G>A (p.Gly2739Ser)
|
|
|
NM_001378454.1(ALMS1):c.8218A>G (p.Ser2740Gly)
|
|
|
NM_001378454.1(ALMS1):c.8220C>A (p.Ser2740Arg)
|
rs920410396
|
|
NM_001378454.1(ALMS1):c.8223G>T (p.Gln2741His)
|
|
|
NM_001378454.1(ALMS1):c.8225G>C (p.Cys2742Ser)
|
|
|
NM_001378454.1(ALMS1):c.8242G>C (p.Gly2748Arg)
|
|
|
NM_001378454.1(ALMS1):c.8245G>A (p.Val2749Ile)
|
|
|
NM_001378454.1(ALMS1):c.8246T>C (p.Val2749Ala)
|
rs2103891180
|
|
NM_001378454.1(ALMS1):c.8252A>G (p.Asn2751Ser)
|
|
|
NM_001378454.1(ALMS1):c.8254T>A (p.Ser2752Thr)
|
|
|
NM_001378454.1(ALMS1):c.8258A>G (p.His2753Arg)
|
|
|
NM_001378454.1(ALMS1):c.8260T>A (p.Phe2754Ile)
|
|
|
NM_001378454.1(ALMS1):c.8266G>A (p.Glu2756Lys)
|
|
|
NM_001378454.1(ALMS1):c.8267A>G (p.Glu2756Gly)
|
|
|
NM_001378454.1(ALMS1):c.8272C>A (p.Gln2758Lys)
|
rs756042345
|
|
NM_001378454.1(ALMS1):c.8275A>T (p.Asn2759Tyr)
|
|
|
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala)
|
rs369650940
|
|
NM_001378454.1(ALMS1):c.8281C>T (p.Pro2761Ser)
|
|
|
NM_001378454.1(ALMS1):c.8290C>T (p.Leu2764Phe)
|
rs2103891331
|
|
NM_001378454.1(ALMS1):c.8296C>G (p.Gln2766Glu)
|
|
|
NM_001378454.1(ALMS1):c.8299A>G (p.Lys2767Glu)
|
|
|
NM_001378454.1(ALMS1):c.82G>A (p.Glu28Lys)
|
rs1670512542
|
|
NM_001378454.1(ALMS1):c.8306C>T (p.Ser2769Phe)
|
rs1060500037
|
|
NM_001378454.1(ALMS1):c.8311C>A (p.Pro2771Thr)
|
rs1245686264
|
|
NM_001378454.1(ALMS1):c.8315CAT[1] (p.Ser2773del)
|
rs770459045
|
|
NM_001378454.1(ALMS1):c.8323A>G (p.Lys2775Glu)
|
rs1572969570
|
|
NM_001378454.1(ALMS1):c.8324A>G (p.Lys2775Arg)
|
|
|
NM_001378454.1(ALMS1):c.8328G>A (p.Met2776Ile)
|
|
|
NM_001378454.1(ALMS1):c.8335A>G (p.Asn2779Asp)
|
rs1672950651
|
|
NM_001378454.1(ALMS1):c.8345A>G (p.Asp2782Gly)
|
rs1672950843
|
|
NM_001378454.1(ALMS1):c.8350G>C (p.Glu2784Gln)
|
|
|
NM_001378454.1(ALMS1):c.8375G>A (p.Arg2792Lys)
|
|
|
NM_001378454.1(ALMS1):c.837G>T (p.Gln279His)
|
|
|
NM_001378454.1(ALMS1):c.8387A>G (p.Gln2796Arg)
|
|
|
NM_001378454.1(ALMS1):c.8388A>T (p.Gln2796His)
|
rs770409935
|
|
NM_001378454.1(ALMS1):c.8396C>G (p.Pro2799Arg)
|
|
|
NM_001378454.1(ALMS1):c.8413T>C (p.Ser2805Pro)
|
|
|
NM_001378454.1(ALMS1):c.8419C>A (p.Gln2807Lys)
|
rs1314753569
|
|
NM_001378454.1(ALMS1):c.8426A>C (p.Glu2809Ala)
|
|
|
NM_001378454.1(ALMS1):c.8432C>G (p.Pro2811Arg)
|
|
|
NM_001378454.1(ALMS1):c.8446G>T (p.Asp2816Tyr)
|
|
|
NM_001378454.1(ALMS1):c.8462A>T (p.His2821Leu)
|
|
|
NM_001378454.1(ALMS1):c.847G>A (p.Glu283Lys)
|
rs780066739
|
|
NM_001378454.1(ALMS1):c.8484A>C (p.Ala2828=)
|
|
|
NM_001378454.1(ALMS1):c.8485A>T (p.Asn2829Tyr)
|
|
|
NM_001378454.1(ALMS1):c.8491A>C (p.Ser2831Arg)
|
|
|
NM_001378454.1(ALMS1):c.8495A>C (p.Asn2832Thr)
|
|
|
NM_001378454.1(ALMS1):c.8495A>G (p.Asn2832Ser)
|
rs2103892060
|
|
NM_001378454.1(ALMS1):c.8496T>A (p.Asn2832Lys)
|
|
|
NM_001378454.1(ALMS1):c.8501A>G (p.Lys2834Arg)
|
rs1672955488
|
|
NM_001378454.1(ALMS1):c.850G>A (p.Val284Ile)
|
|
|
NM_001378454.1(ALMS1):c.8512A>G (p.Ile2838Val)
|
|
|
NM_001378454.1(ALMS1):c.8539A>G (p.Met2847Val)
|
|
|
NM_001378454.1(ALMS1):c.8543G>A (p.Gly2848Asp)
|
|
|
NM_001378454.1(ALMS1):c.8544C>A (p.Gly2848=)
|
|
|
NM_001378454.1(ALMS1):c.8549C>T (p.Pro2850Leu)
|
|
|
NM_001378454.1(ALMS1):c.8555C>G (p.Ser2852Cys)
|
rs2103892251
|
|
NM_001378454.1(ALMS1):c.8560_8580del (p.Leu2854_Ser2860del)
|
rs2103892286
|
|
NM_001378454.1(ALMS1):c.8564_8565delinsAG (p.Gly2855Glu)
|
|
|
NM_001378454.1(ALMS1):c.8574A>C (p.Arg2858Ser)
|
rs1489673662
|
|
NM_001378454.1(ALMS1):c.8576C>T (p.Ser2859Leu)
|
|
|
NM_001378454.1(ALMS1):c.8593G>A (p.Val2865Ile)
|
rs780429128
|
|
NM_001378454.1(ALMS1):c.8593G>T (p.Val2865Leu)
|
|
|
NM_001378454.1(ALMS1):c.8600A>C (p.Glu2867Ala)
|
|
|
NM_001378454.1(ALMS1):c.8611A>G (p.Thr2871Ala)
|
rs2103892484
|
|
NM_001378454.1(ALMS1):c.8614A>G (p.Ile2872Val)
|
rs1672958523
|
|
NM_001378454.1(ALMS1):c.8629C>T (p.Pro2877Ser)
|
rs2103892547
|
|
NM_001378454.1(ALMS1):c.8636G>T (p.Cys2879Phe)
|
rs747099151
|
|
NM_001378454.1(ALMS1):c.8654G>T (p.Arg2885Leu)
|
|
|
NM_001378454.1(ALMS1):c.8658_8783del (p.Ser2891_Gln2932del)
|
|
|
NM_001378454.1(ALMS1):c.8669_8672delinsTCTCACT (p.Gln2890_Ser2891delinsLeuSerLeu)
|
|
|
NM_001378454.1(ALMS1):c.8677G>A (p.Ala2893Thr)
|
rs2103892779
|
|
NM_001378454.1(ALMS1):c.8683C>A (p.Arg2895Ser)
|
rs765969711
|
|
NM_001378454.1(ALMS1):c.8696A>G (p.His2899Arg)
|
|
|
NM_001378454.1(ALMS1):c.8699T>C (p.Val2900Ala)
|
rs1672960979
|
|
NM_001378454.1(ALMS1):c.86C>A (p.Ala29Asp)
|
|
|
NM_001378454.1(ALMS1):c.870C>T (p.Ser290=)
|
|
|
NM_001378454.1(ALMS1):c.8710C>T (p.His2904Tyr)
|
|
|
NM_001378454.1(ALMS1):c.871A>G (p.Ser291Gly)
|
rs2103714771
|
|
NM_001378454.1(ALMS1):c.8738A>T (p.Tyr2913Phe)
|
|
|
NM_001378454.1(ALMS1):c.8744C>T (p.Ala2915Val)
|
|
|
NM_001378454.1(ALMS1):c.8753T>G (p.Leu2918Arg)
|
|
|
NM_001378454.1(ALMS1):c.8753_8754delinsGA (p.Leu2918Arg)
|
|
|
NM_001378454.1(ALMS1):c.8756CTT[1] (p.Ser2920del)
|
rs1553409775
|
|
NM_001378454.1(ALMS1):c.875G>A (p.Arg292His)
|
|
|
NM_001378454.1(ALMS1):c.8770C>T (p.Leu2924Phe)
|
|
|
NM_001378454.1(ALMS1):c.8771T>C (p.Leu2924Pro)
|
|
|
NM_001378454.1(ALMS1):c.8774AAC[1] (p.Gln2926del)
|
rs2103893243
|
|
NM_001378454.1(ALMS1):c.8776C>A (p.Gln2926Lys)
|
|
|
NM_001378454.1(ALMS1):c.8778A>G (p.Gln2926=)
|
|
|
NM_001378454.1(ALMS1):c.8788T>G (p.Phe2930Val)
|
rs751893253
|
|
NM_001378454.1(ALMS1):c.8804C>T (p.Ala2935Val)
|
|
|
NM_001378454.1(ALMS1):c.8816A>G (p.Asp2939Gly)
|
rs886056313
|
|
NM_001378454.1(ALMS1):c.8817T>A (p.Asp2939Glu)
|
|
|
NM_001378454.1(ALMS1):c.8822A>G (p.Gln2941Arg)
|
|
|
NM_001378454.1(ALMS1):c.8824A>G (p.Met2942Val)
|
rs2103893441
|
|
NM_001378454.1(ALMS1):c.8833A>G (p.Asn2945Asp)
|
rs1330910084
|
|
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg)
|
rs574785830
|
|
NM_001378454.1(ALMS1):c.8840C>T (p.Ser2947Phe)
|
|
|
NM_001378454.1(ALMS1):c.8861A>T (p.Asp2954Val)
|
rs751940353
|
|
NM_001378454.1(ALMS1):c.8862T>G (p.Asp2954Glu)
|
|
|
NM_001378454.1(ALMS1):c.8884T>C (p.Ser2962Pro)
|
|
|
NM_001378454.1(ALMS1):c.8890A>C (p.Ile2964Leu)
|
rs529506570
|
|
NM_001378454.1(ALMS1):c.8894C>G (p.Ser2965Cys)
|
rs2103893808
|
|
NM_001378454.1(ALMS1):c.8902C>G (p.Gln2968Glu)
|
rs758433515
|
|
NM_001378454.1(ALMS1):c.8910A>C (p.Gln2970His)
|
rs2103893881
|
|
NM_001378454.1(ALMS1):c.8910A>G (p.Gln2970=)
|
|
|
NM_001378454.1(ALMS1):c.8911A>G (p.Ser2971Gly)
|
rs746825059
|
|
NM_001378454.1(ALMS1):c.8934C>A (p.Asp2978Glu)
|
|
|
NM_001378454.1(ALMS1):c.893A>G (p.His298Arg)
|
|
|
NM_001378454.1(ALMS1):c.8950C>T (p.His2984Tyr)
|
|
|
NM_001378454.1(ALMS1):c.8951A>G (p.His2984Arg)
|
|
|
NM_001378454.1(ALMS1):c.8957C>A (p.Pro2986His)
|
rs1022866808
|
|
NM_001378454.1(ALMS1):c.8957C>T (p.Pro2986Leu)
|
rs1022866808
|
|
NM_001378454.1(ALMS1):c.8959C>G (p.Leu2987Val)
|
rs952528298
|
|
NM_001378454.1(ALMS1):c.895C>G (p.Pro299Ala)
|
|
|
NM_001378454.1(ALMS1):c.8963C>T (p.Pro2988Leu)
|
rs1224152145
|
|
NM_001378454.1(ALMS1):c.8965C>G (p.Gln2989Glu)
|
|
|
NM_001378454.1(ALMS1):c.8967A>G (p.Gln2989=)
|
|
|
NM_001378454.1(ALMS1):c.896C>T (p.Pro299Leu)
|
rs199899389
|
|
NM_001378454.1(ALMS1):c.8977T>C (p.Cys2993Arg)
|
rs2103894140
|
|
NM_001378454.1(ALMS1):c.8983G>A (p.Val2995Met)
|
rs1553409810
|
|
NM_001378454.1(ALMS1):c.8989A>C (p.Lys2997Gln)
|
|
|
NM_001378454.1(ALMS1):c.8990A>C (p.Lys2997Thr)
|
|
|
NM_001378454.1(ALMS1):c.9004A>C (p.Lys3002Gln)
|
|
|
NM_001378454.1(ALMS1):c.9006G>C (p.Lys3002Asn)
|
rs753980616
|
|
NM_001378454.1(ALMS1):c.9008C>T (p.Pro3003Leu)
|
rs755044727
|
|
NM_001378454.1(ALMS1):c.9009T>G (p.Pro3003=)
|
|
|
NM_001378454.1(ALMS1):c.9010A>G (p.Lys3004Glu)
|
|
|
NM_001378454.1(ALMS1):c.9012A>G (p.Lys3004=)
|
|
|
NM_001378454.1(ALMS1):c.9016C>T (p.His3006Tyr)
|
rs779131632
|
|
NM_001378454.1(ALMS1):c.901A>G (p.Ile301Val)
|
rs534913971
|
|
NM_001378454.1(ALMS1):c.9032A>G (p.Asn3011Ser)
|
rs1672972439
|
|
NM_001378454.1(ALMS1):c.9049A>G (p.Asn3017Asp)
|
rs1572970420
|
|
NM_001378454.1(ALMS1):c.9050A>T (p.Asn3017Ile)
|
|
|
NM_001378454.1(ALMS1):c.9053C>G (p.Thr3018Ser)
|
rs2103894447
|
|
NM_001378454.1(ALMS1):c.9062C>G (p.Ser3021Cys)
|
|
|
NM_001378454.1(ALMS1):c.908G>A (p.Ser303Asn)
|
|
|
NM_001378454.1(ALMS1):c.90_92del (p.Ala35del)
|
rs973057702
|
|
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del)
|
rs759799299
|
|
NM_001378454.1(ALMS1):c.9116C>T (p.Ser3039Leu)
|
rs1672974629
|
|
NM_001378454.1(ALMS1):c.9121A>G (p.Arg3041Gly)
|
rs757177003
|
|
NM_001378454.1(ALMS1):c.9125A>C (p.Lys3042Thr)
|
|
|
NM_001378454.1(ALMS1):c.9127G>A (p.Ala3043Thr)
|
rs373870241
|
|
NM_001378454.1(ALMS1):c.9133T>C (p.Ser3045Pro)
|
rs1300179474
|
|
NM_001378454.1(ALMS1):c.9134C>G (p.Ser3045Cys)
|
|
|
NM_001378454.1(ALMS1):c.9136T>C (p.Cys3046Arg)
|
|
|
NM_001378454.1(ALMS1):c.9139G>A (p.Val3047Ile)
|
|
|
NM_001378454.1(ALMS1):c.9140T>G (p.Val3047Gly)
|
|
|
NM_001378454.1(ALMS1):c.9149C>A (p.Thr3050Asn)
|
rs2103894928
|
|
NM_001378454.1(ALMS1):c.9149C>G (p.Thr3050Ser)
|
|
|
NM_001378454.1(ALMS1):c.9154T>G (p.Cys3052Gly)
|
rs1672975660
|
|
NM_001378454.1(ALMS1):c.9155G>C (p.Cys3052Ser)
|
|
|
NM_001378454.1(ALMS1):c.9157C>G (p.Pro3053Ala)
|
rs1672976080
|
|
NM_001378454.1(ALMS1):c.9158C>T (p.Pro3053Leu)
|
rs768273806
|
|
NM_001378454.1(ALMS1):c.9160A>G (p.Lys3054Glu)
|
|
|
NM_001378454.1(ALMS1):c.9185G>A (p.Gly3062Glu)
|
|
|
NM_001378454.1(ALMS1):c.9194A>C (p.Asp3065Ala)
|
|
|
NM_001378454.1(ALMS1):c.91GCG[3] (p.Ala34_Ala35del)
|
rs746896173
|
|
NM_001378454.1(ALMS1):c.9205C>T (p.His3069Tyr)
|
|
|
NM_001378454.1(ALMS1):c.920G>A (p.Gly307Glu)
|
rs2103714961
|
|
NM_001378454.1(ALMS1):c.9235A>G (p.Met3079Val)
|
|
|
NM_001378454.1(ALMS1):c.9242G>T (p.Ser3081Ile)
|
rs750425368
|
|
NM_001378454.1(ALMS1):c.925C>G (p.Gln309Glu)
|
rs1558639213
|
|
NM_001378454.1(ALMS1):c.9262C>T (p.His3088Tyr)
|
rs1672978412
|
|
NM_001378454.1(ALMS1):c.9278G>T (p.Arg3093Ile)
|
rs1320008798
|
|
NM_001378454.1(ALMS1):c.9292A>G (p.Thr3098Ala)
|
rs1280854716
|
|
NM_001378454.1(ALMS1):c.9293C>A (p.Thr3098Asn)
|
rs1553409866
|
|
NM_001378454.1(ALMS1):c.9320T>A (p.Val3107Glu)
|
|
|
NM_001378454.1(ALMS1):c.9325C>G (p.Gln3109Glu)
|
rs1558667813
|
|
NM_001378454.1(ALMS1):c.9336A>T (p.Glu3112Asp)
|
rs1558667820
|
|
NM_001378454.1(ALMS1):c.9337T>C (p.Ser3113Pro)
|
rs1572970696
|
|
NM_001378454.1(ALMS1):c.9342A>C (p.Leu3114Phe)
|
rs759935236
|
|
NM_001378454.1(ALMS1):c.9353G>A (p.Gly3118Glu)
|
rs1672980678
|
|
NM_001378454.1(ALMS1):c.9367C>A (p.Leu3123Met)
|
rs751613156
|
|
NM_001378454.1(ALMS1):c.9371A>G (p.Asp3124Gly)
|
|
|
NM_001378454.1(ALMS1):c.9377A>G (p.Gln3126Arg)
|
rs1553409872
|
|
NM_001378454.1(ALMS1):c.9380T>C (p.Val3127Ala)
|
rs2103895825
|
|
NM_001378454.1(ALMS1):c.9382G>T (p.Val3128Leu)
|
rs764937531
|
|
NM_001378454.1(ALMS1):c.9389C>T (p.Pro3130Leu)
|
|
|
NM_001378454.1(ALMS1):c.9394C>T (p.Leu3132Phe)
|
|
|
NM_001378454.1(ALMS1):c.9398C>G (p.Pro3133Arg)
|
|
|
NM_001378454.1(ALMS1):c.9401A>G (p.Asp3134Gly)
|
|
|
NM_001378454.1(ALMS1):c.9409A>G (p.Thr3137Ala)
|
|
|
NM_001378454.1(ALMS1):c.9410C>G (p.Thr3137Ser)
|
rs775701628
|
|
NM_001378454.1(ALMS1):c.9423C>G (p.Asp3141Glu)
|
rs1486652095
|
|
NM_001378454.1(ALMS1):c.9433A>G (p.Ile3145Val)
|
rs767987000
|
|
NM_001378454.1(ALMS1):c.9433A>T (p.Ile3145Leu)
|
rs767987000
|
|
NM_001378454.1(ALMS1):c.9484A>G (p.Ile3162Val)
|
|
|
NM_001378454.1(ALMS1):c.9490G>A (p.Asp3164Asn)
|
rs2103896409
|
|
NM_001378454.1(ALMS1):c.9499G>A (p.Gly3167Arg)
|
rs746440819
|
|
NM_001378454.1(ALMS1):c.94G>A (p.Ala32Thr)
|
|
|
NM_001378454.1(ALMS1):c.950A>G (p.Gln317Arg)
|
|
|
NM_001378454.1(ALMS1):c.9511C>G (p.Pro3171Ala)
|
|
|
NM_001378454.1(ALMS1):c.9524C>T (p.Pro3175Leu)
|
|
|
NM_001378454.1(ALMS1):c.9539+11T>C
|
|
|
NM_001378454.1(ALMS1):c.9554T>C (p.Met3185Thr)
|
rs2103961851
|
|
NM_001378454.1(ALMS1):c.9555G>A (p.Met3185Ile)
|
|
|
NM_001378454.1(ALMS1):c.9566T>C (p.Leu3189Pro)
|
|
|
NM_001378454.1(ALMS1):c.956A>G (p.Asn319Ser)
|
|
|
NM_001378454.1(ALMS1):c.9578C>T (p.Ser3193Phe)
|
|
|
NM_001378454.1(ALMS1):c.9584A>C (p.Lys3195Thr)
|
|
|
NM_001378454.1(ALMS1):c.9598G>T (p.Ala3200Ser)
|
|
|
NM_001378454.1(ALMS1):c.9605C>T (p.Thr3202Ile)
|
|
|
NM_001378454.1(ALMS1):c.9614C>G (p.Thr3205Arg)
|
|
|
NM_001378454.1(ALMS1):c.9616A>G (p.Thr3206Ala)
|
rs878853092
|
|
NM_001378454.1(ALMS1):c.9629A>G (p.Glu3210Gly)
|
|
|
NM_001378454.1(ALMS1):c.9633G>T (p.Lys3211Asn)
|
rs373013570
|
|
NM_001378454.1(ALMS1):c.9654T>G (p.Ile3218Met)
|
|
|
NM_001378454.1(ALMS1):c.9658A>G (p.Ile3220Val)
|
rs760370290
|
|
NM_001378454.1(ALMS1):c.9659T>C (p.Ile3220Thr)
|
|
|
NM_001378454.1(ALMS1):c.9662A>G (p.Asn3221Ser)
|
rs1673639492
|
|
NM_001378454.1(ALMS1):c.9673C>G (p.Arg3225Gly)
|
rs200215551
|
|
NM_001378454.1(ALMS1):c.9673C>T (p.Arg3225Cys)
|
rs200215551
|
|
NM_001378454.1(ALMS1):c.9677G>A (p.Gly3226Glu)
|
rs1673640308
|
|
NM_001378454.1(ALMS1):c.9684A>C (p.Glu3228Asp)
|
|
|
NM_001378454.1(ALMS1):c.968C>G (p.Thr323Ser)
|
|
|
NM_001378454.1(ALMS1):c.9691G>A (p.Glu3231Lys)
|
|
|
NM_001378454.1(ALMS1):c.9697G>C (p.Gly3233Arg)
|
rs757474886
|
|
NM_001378454.1(ALMS1):c.970A>G (p.Ile324Val)
|
|
|
NM_001378454.1(ALMS1):c.9721C>A (p.Pro3241Thr)
|
rs746680944
|
|
NM_001378454.1(ALMS1):c.9738ATC[1] (p.Ser3249del)
|
|
|
NM_001378454.1(ALMS1):c.973T>C (p.Ser325Pro)
|
|
|
NM_001378454.1(ALMS1):c.9742T>C (p.Ser3248Pro)
|
|
|
NM_001378454.1(ALMS1):c.9743C>G (p.Ser3248Cys)
|
|
|
NM_001378454.1(ALMS1):c.9754_9755insCTC (p.Gln3251_Gln3252insPro)
|
rs766127195
|
|
NM_001378454.1(ALMS1):c.976T>C (p.Ser326Pro)
|
|
|
NM_001378454.1(ALMS1):c.9772G>T (p.Gly3258Cys)
|
rs769100528
|
|
NM_001378454.1(ALMS1):c.9773G>A (p.Gly3258Asp)
|
|
|
NM_001378454.1(ALMS1):c.9778G>A (p.Asp3260Asn)
|
|
|
NM_001378454.1(ALMS1):c.9779A>C (p.Asp3260Ala)
|
rs745518051
|
|
NM_001378454.1(ALMS1):c.9782G>A (p.Gly3261Asp)
|
rs2103991983
|
|
NM_001378454.1(ALMS1):c.9785delinsGGCC (p.Gln3262delinsArgPro)
|
|
|
NM_001378454.1(ALMS1):c.9806A>C (p.Lys3269Thr)
|
|
|
NM_001378454.1(ALMS1):c.9809C>T (p.Pro3270Leu)
|
rs551032553
|
|
NM_001378454.1(ALMS1):c.9814G>A (p.Gly3272Ser)
|
rs1673993273
|
|
NM_001378454.1(ALMS1):c.9823A>G (p.Lys3275Glu)
|
|
|
NM_001378454.1(ALMS1):c.9826A>G (p.Met3276Val)
|
|
|
NM_001378454.1(ALMS1):c.9827T>A (p.Met3276Lys)
|
rs1673993582
|
|
NM_001378454.1(ALMS1):c.9860C>T (p.Pro3287Leu)
|
|
|
NM_001378454.1(ALMS1):c.9889G>A (p.Val3297Ile)
|
|
|
NM_001378454.1(ALMS1):c.9911C>A (p.Ser3304Tyr)
|
|
|
NM_001378454.1(ALMS1):c.9911C>G (p.Ser3304Cys)
|
rs2104034683
|
|
NM_001378454.1(ALMS1):c.9917A>G (p.Asp3306Gly)
|
rs746138259
|
|
NM_001378454.1(ALMS1):c.9917A>T (p.Asp3306Val)
|
|
|
NM_001378454.1(ALMS1):c.991A>G (p.Lys331Glu)
|
rs2103715291
|
|
NM_001378454.1(ALMS1):c.9922A>G (p.Ile3308Val)
|
|
|
NM_001378454.1(ALMS1):c.993A>C (p.Lys331Asn)
|
rs1671344444
|
|
NM_001378454.1(ALMS1):c.9946G>A (p.Val3316Met)
|
|
|
NM_001378454.1(ALMS1):c.9962A>T (p.Asp3321Val)
|
|
|
NM_001378454.1(ALMS1):c.9968A>G (p.Asp3323Gly)
|
rs1573013147
|
|
NM_001378454.1(ALMS1):c.9976G>A (p.Ala3326Thr)
|
rs201213079
|
|
NM_001378454.1(ALMS1):c.9980C>T (p.Thr3327Ile)
|
|
|
NM_001378615.1(CC2D2A):c.1017+3A>G
|
|
|
NM_001378615.1(CC2D2A):c.1017+5G>A
|
rs2109012967
|
|
NM_001378615.1(CC2D2A):c.1042G>A (p.Gly348Ser)
|
|
|
NM_001378615.1(CC2D2A):c.1049T>C (p.Ile350Thr)
|
|
|
NM_001378615.1(CC2D2A):c.1091C>G (p.Pro364Arg)
|
rs768618373
|
|
NM_001378615.1(CC2D2A):c.1096G>C (p.Val366Leu)
|
|
|
NM_001378615.1(CC2D2A):c.1102A>G (p.Thr368Ala)
|
|
|
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val)
|
rs16892095
|
|
NM_001378615.1(CC2D2A):c.1139T>C (p.Leu380Pro)
|
|
|
NM_001378615.1(CC2D2A):c.113G>A (p.Arg38Lys)
|
rs2108970106
|
|
NM_001378615.1(CC2D2A):c.1190C>T (p.Ser397Phe)
|
|
|
NM_001378615.1(CC2D2A):c.1196A>C (p.Asp399Ala)
|
rs2109024009
|
|
NM_001378615.1(CC2D2A):c.119A>G (p.Lys40Arg)
|
|
|
NM_001378615.1(CC2D2A):c.1229T>C (p.Ile410Thr)
|
|
|
NM_001378615.1(CC2D2A):c.1247C>T (p.Thr416Ile)
|
|
|
NM_001378615.1(CC2D2A):c.1260T>G (p.Cys420Trp)
|
rs751436798
|
|
NM_001378615.1(CC2D2A):c.1266C>G (p.Ser422Arg)
|
rs1229319521
|
|
NM_001378615.1(CC2D2A):c.1269A>T (p.Arg423=)
|
rs745715017
|
|
NM_001378615.1(CC2D2A):c.1307A>T (p.Asp436Val)
|
|
|
NM_001378615.1(CC2D2A):c.130A>G (p.Thr44Ala)
|
|
|
NM_001378615.1(CC2D2A):c.1312T>C (p.Tyr438His)
|
|
|
NM_001378615.1(CC2D2A):c.1326C>A (p.His442Gln)
|
rs1284018435
|
|
NM_001378615.1(CC2D2A):c.1331G>A (p.Arg444Lys)
|
|
|
NM_001378615.1(CC2D2A):c.1354G>A (p.Asp452Asn)
|
rs1443260159
|
|
NM_001378615.1(CC2D2A):c.1360C>T (p.Leu454Phe)
|
rs868776328
|
|
NM_001378615.1(CC2D2A):c.1371A>C (p.Leu457Phe)
|
|
|
NM_001378615.1(CC2D2A):c.1393C>T (p.Leu465Phe)
|
|
|
NM_001378615.1(CC2D2A):c.1421T>C (p.Leu474Pro)
|
|
|
NM_001378615.1(CC2D2A):c.1423G>A (p.Asp475Asn)
|
|
|
NM_001378615.1(CC2D2A):c.1465C>A (p.Arg489=)
|
rs145678228
|
|
NM_001378615.1(CC2D2A):c.1466+4A>C
|
|
|
NM_001378615.1(CC2D2A):c.1469A>G (p.Gln490Arg)
|
|
|
NM_001378615.1(CC2D2A):c.1511C>T (p.Thr504Ile)
|
rs1717945434
|
|
NM_001378615.1(CC2D2A):c.1526T>C (p.Ile509Thr)
|
|
|
NM_001378615.1(CC2D2A):c.1533A>T (p.Lys511Asn)
|
rs1577354625
|
|
NM_001378615.1(CC2D2A):c.1547T>C (p.Met516Thr)
|
|
|
NM_001378615.1(CC2D2A):c.1561G>C (p.Glu521Gln)
|
rs756638247
|
|
NM_001378615.1(CC2D2A):c.1565T>C (p.Phe522Ser)
|
|
|
NM_001378615.1(CC2D2A):c.1580A>G (p.Asn527Ser)
|
rs2109029921
|
|
NM_001378615.1(CC2D2A):c.1607+6C>A
|
rs2109029936
|
|
NM_001378615.1(CC2D2A):c.1608-12del
|
|
|
NM_001378615.1(CC2D2A):c.1611A>C (p.Glu537Asp)
|
rs762714528
|
|
NM_001378615.1(CC2D2A):c.1621C>A (p.Gln541Lys)
|
rs1160716658
|
|
NM_001378615.1(CC2D2A):c.1632T>G (p.Asp544Glu)
|
|
|
NM_001378615.1(CC2D2A):c.1633G>A (p.Glu545Lys)
|
rs749783221
|
|
NM_001378615.1(CC2D2A):c.1634AAG[1] (p.Glu546del)
|
rs750868948
|
|
NM_001378615.1(CC2D2A):c.1640C>T (p.Ala547Val)
|
|
|
NM_001378615.1(CC2D2A):c.1666A>G (p.Ile556Val)
|
|
|
NM_001378615.1(CC2D2A):c.1670G>C (p.Ser557Thr)
|
rs1479599144
|
|
NM_001378615.1(CC2D2A):c.1681G>C (p.Glu561Gln)
|
rs2109034008
|
|
NM_001378615.1(CC2D2A):c.1684G>A (p.Glu562Lys)
|
|
|
NM_001378615.1(CC2D2A):c.1691C>A (p.Thr564Lys)
|
|
|
NM_001378615.1(CC2D2A):c.1693GAG[1] (p.Glu566del)
|
rs1718166919
|
|
NM_001378615.1(CC2D2A):c.1720T>A (p.Tyr574Asn)
|
rs768277071
|
|
NM_001378615.1(CC2D2A):c.1727C>T (p.Thr576Met)
|
|
|
NM_001378615.1(CC2D2A):c.1742G>C (p.Trp581Ser)
|
rs2109034111
|
|
NM_001378615.1(CC2D2A):c.1760T>A (p.Val587Glu)
|
|
|
NM_001378615.1(CC2D2A):c.1760T>C (p.Val587Ala)
|
|
|
NM_001378615.1(CC2D2A):c.1773GAA[2] (p.Lys594del)
|
rs886044115
|
|
NM_001378615.1(CC2D2A):c.1798GAA[1] (p.Glu601del)
|
rs1363895451
|
|
NM_001378615.1(CC2D2A):c.179C>T (p.Pro60Leu)
|
rs566035797
|
|
NM_001378615.1(CC2D2A):c.1804C>T (p.His602Tyr)
|
rs753430251
|
|
NM_001378615.1(CC2D2A):c.1850T>C (p.Val617Ala)
|
rs1718226237
|
|
NM_001378615.1(CC2D2A):c.1864C>G (p.Pro622Ala)
|
rs1718227512
|
|
NM_001378615.1(CC2D2A):c.1879C>T (p.Arg627Trp)
|
|
|
NM_001378615.1(CC2D2A):c.1891G>C (p.Glu631Gln)
|
|
|
NM_001378615.1(CC2D2A):c.1895A>G (p.Gln632Arg)
|
rs777510836
|
|
NM_001378615.1(CC2D2A):c.1910G>C (p.Arg637Thr)
|
|
|
NM_001378615.1(CC2D2A):c.1952T>C (p.Val651Ala)
|
rs762298895
|
|
NM_001378615.1(CC2D2A):c.1954C>T (p.Pro652Ser)
|
rs2109035370
|
|
NM_001378615.1(CC2D2A):c.1960C>G (p.Leu654Val)
|
rs2109035388
|
|
NM_001378615.1(CC2D2A):c.2006C>A (p.Ala669Glu)
|
rs953243101
|
|
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)
|
rs763596840
|
|
NM_001378615.1(CC2D2A):c.2025G>T (p.Glu675Asp)
|
|
|
NM_001378615.1(CC2D2A):c.2072AGG[1] (p.Glu692del)
|
rs1718395356
|
|
NM_001378615.1(CC2D2A):c.209C>T (p.Thr70Ile)
|
|
|
NM_001378615.1(CC2D2A):c.2105G>T (p.Gly702Val)
|
|
|
NM_001378615.1(CC2D2A):c.2107G>A (p.Ala703Thr)
|
|
|
NM_001378615.1(CC2D2A):c.2151A>G (p.Ile717Met)
|
|
|
NM_001378615.1(CC2D2A):c.2170T>A (p.Leu724Ile)
|
rs1718404801
|
|
NM_001378615.1(CC2D2A):c.2174C>T (p.Thr725Ile)
|
|
|
NM_001378615.1(CC2D2A):c.2180A>G (p.Gln727Arg)
|
rs2109038955
|
|
NM_001378615.1(CC2D2A):c.2182-3C>T
|
rs1560177957
|
|
NM_001378615.1(CC2D2A):c.2182-6T>G
|
rs1225693344
|
|
NM_001378615.1(CC2D2A):c.2203A>T (p.Ser735Cys)
|
|
|
NM_001378615.1(CC2D2A):c.2208T>A (p.Ser736Arg)
|
rs2109050119
|
|
NM_001378615.1(CC2D2A):c.2209C>A (p.Pro737Thr)
|
rs1560177991
|
|
NM_001378615.1(CC2D2A):c.2251A>C (p.Thr751Pro)
|
|
|
NM_001378615.1(CC2D2A):c.2267G>C (p.Arg756Thr)
|
|
|
NM_001378615.1(CC2D2A):c.2275A>C (p.Thr759Pro)
|
rs1226753536
|
|
NM_001378615.1(CC2D2A):c.2283A>C (p.Glu761Asp)
|
|
|
NM_001378615.1(CC2D2A):c.2287G>C (p.Glu763Gln)
|
|
|
NM_001378615.1(CC2D2A):c.232C>T (p.Arg78Trp)
|
|
|
NM_001378615.1(CC2D2A):c.2336G>A (p.Ser779Asn)
|
rs2109050322
|
|
NM_001378615.1(CC2D2A):c.2338+3A>T
|
|
|
NM_001378615.1(CC2D2A):c.2338+4T>C
|
|
|
NM_001378615.1(CC2D2A):c.2362G>C (p.Asp788His)
|
rs2109052993
|
|
NM_001378615.1(CC2D2A):c.2378T>G (p.Leu793Arg)
|
|
|
NM_001378615.1(CC2D2A):c.2380A>T (p.Thr794Ser)
|
|
|
NM_001378615.1(CC2D2A):c.2387T>C (p.Met796Thr)
|
|
|
NM_001378615.1(CC2D2A):c.2398A>G (p.Lys800Glu)
|
|
|
NM_001378615.1(CC2D2A):c.2410A>T (p.Ser804Cys)
|
rs745751160
|
|
NM_001378615.1(CC2D2A):c.2411G>A (p.Ser804Asn)
|
|
|
NM_001378615.1(CC2D2A):c.2414T>C (p.Val805Ala)
|
|
|
NM_001378615.1(CC2D2A):c.241C>G (p.Pro81Ala)
|
|
|
NM_001378615.1(CC2D2A):c.2425A>G (p.Ile809Val)
|
rs1719097213
|
|
NM_001378615.1(CC2D2A):c.2440A>G (p.Ile814Val)
|
|
|
NM_001378615.1(CC2D2A):c.2452C>A (p.Pro818Thr)
|
rs1719099728
|
|
NM_001378615.1(CC2D2A):c.2456C>A (p.Pro819Gln)
|
rs1719100127
|
|
NM_001378615.1(CC2D2A):c.246G>C (p.Arg82=)
|
|
|
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT
|
rs750398145
|
|
NM_001378615.1(CC2D2A):c.2482C>T (p.Arg828Trp)
|
rs749997192
|
|
NM_001378615.1(CC2D2A):c.2486+5T>A
|
|
|
NM_001378615.1(CC2D2A):c.2487-3C>T
|
|
|
NM_001378615.1(CC2D2A):c.2487-7_2487-3del
|
|
|
NM_001378615.1(CC2D2A):c.2537C>A (p.Thr846Lys)
|
|
|
NM_001378615.1(CC2D2A):c.2537C>T (p.Thr846Ile)
|
|
|
NM_001378615.1(CC2D2A):c.2549A>T (p.Lys850Ile)
|
|
|
NM_001378615.1(CC2D2A):c.2554G>C (p.Ala852Pro)
|
rs2109055415
|
|
NM_001378615.1(CC2D2A):c.2567C>A (p.Ala856Glu)
|
rs1719213816
|
|
NM_001378615.1(CC2D2A):c.2575A>G (p.Lys859Glu)
|
rs770990150
|
|
NM_001378615.1(CC2D2A):c.2605C>T (p.Pro869Ser)
|
rs772863864
|
|
NM_001378615.1(CC2D2A):c.2625G>C (p.Ser875=)
|
rs765873247
|
|
NM_001378615.1(CC2D2A):c.2637T>G (p.Ser879Arg)
|
rs2109058028
|
|
NM_001378615.1(CC2D2A):c.2669T>G (p.Leu890Arg)
|
rs1719341621
|
|
NM_001378615.1(CC2D2A):c.2687A>C (p.Glu896Ala)
|
rs1553838206
|
|
NM_001378615.1(CC2D2A):c.2708A>G (p.Gln903Arg)
|
|
|
NM_001378615.1(CC2D2A):c.2729G>A (p.Arg910Gln)
|
|
|
NM_001378615.1(CC2D2A):c.2734A>G (p.Arg912Gly)
|
rs574421639
|
|
NM_001378615.1(CC2D2A):c.2737C>T (p.Leu913Phe)
|
|
|
NM_001378615.1(CC2D2A):c.2751A>C (p.Arg917Ser)
|
|
|
NM_001378615.1(CC2D2A):c.2752A>G (p.Ser918Gly)
|
rs2109058193
|
|
NM_001378615.1(CC2D2A):c.2820G>C (p.Lys940Asn)
|
|
|
NM_001378615.1(CC2D2A):c.2829G>T (p.Gln943His)
|
|
|
NM_001378615.1(CC2D2A):c.2837A>G (p.Glu946Gly)
|
rs2109060095
|
|
NM_001378615.1(CC2D2A):c.2849G>A (p.Arg950Gln)
|
|
|
NM_001378615.1(CC2D2A):c.2888C>T (p.Thr963Ile)
|
|
|
NM_001378615.1(CC2D2A):c.2899A>G (p.Ile967Val)
|
rs895053103
|
|
NM_001378615.1(CC2D2A):c.2912A>G (p.Tyr971Cys)
|
|
|
NM_001378615.1(CC2D2A):c.2927G>C (p.Arg976Thr)
|
|
|
NM_001378615.1(CC2D2A):c.2977G>A (p.Ala993Thr)
|
|
|
NM_001378615.1(CC2D2A):c.2984T>C (p.Met995Thr)
|
rs1719533280
|
|
NM_001378615.1(CC2D2A):c.3014G>A (p.Ser1005Asn)
|
rs1719535877
|
|
NM_001378615.1(CC2D2A):c.3015-8A>G
|
rs2109065118
|
|
NM_001378615.1(CC2D2A):c.3017T>A (p.Ile1006Asn)
|
rs754619415
|
|
NM_001378615.1(CC2D2A):c.3026T>C (p.Leu1009Pro)
|
|
|
NM_001378615.1(CC2D2A):c.3040_3041delinsGG (p.Leu1014Gly)
|
rs2109065185
|
|
NM_001378615.1(CC2D2A):c.304G>C (p.Gly102Arg)
|
rs1278804341
|
|
NM_001378615.1(CC2D2A):c.3064C>T (p.Arg1022Trp)
|
rs751865030
|
|
NM_001378615.1(CC2D2A):c.3079G>T (p.Gly1027Cys)
|
|
|
NM_001378615.1(CC2D2A):c.3083G>A (p.Arg1028Gln)
|
|
|
NM_001378615.1(CC2D2A):c.3104A>T (p.Asn1035Ile)
|
rs2109065297
|
|
NM_001378615.1(CC2D2A):c.311T>C (p.Met104Thr)
|
|
|
NM_001378615.1(CC2D2A):c.3122T>G (p.Ile1041Arg)
|
|
|
NM_001378615.1(CC2D2A):c.312G>T (p.Met104Ile)
|
rs753884581
|
|
NM_001378615.1(CC2D2A):c.3133G>A (p.Val1045Met)
|
rs1473580177
|
|
NM_001378615.1(CC2D2A):c.3140T>C (p.Ile1047Thr)
|
rs778559564
|
|
NM_001378615.1(CC2D2A):c.3155A>G (p.Asp1052Gly)
|
|
|
NM_001378615.1(CC2D2A):c.3157A>C (p.Ile1053Leu)
|
rs148194457
|
|
NM_001378615.1(CC2D2A):c.3159T>G (p.Ile1053Met)
|
|
|
NM_001378615.1(CC2D2A):c.3160C>T (p.Pro1054Ser)
|
rs1719718448
|
|
NM_001378615.1(CC2D2A):c.3164T>C (p.Val1055Ala)
|
rs2109065394
|
|
NM_001378615.1(CC2D2A):c.3178G>T (p.Val1060Leu)
|
|
|
NM_001378615.1(CC2D2A):c.3182+5G>C
|
|
|
NM_001378615.1(CC2D2A):c.3229C>G (p.His1077Asp)
|
rs2109070180
|
|
NM_001378615.1(CC2D2A):c.3230A>G (p.His1077Arg)
|
|
|
NM_001378615.1(CC2D2A):c.3233C>T (p.Ala1078Val)
|
rs1437673943
|
|
NM_001378615.1(CC2D2A):c.3236C>T (p.Ala1079Val)
|
|
|
NM_001378615.1(CC2D2A):c.3283G>A (p.Gly1095Ser)
|
rs181260724
|
|
NM_001378615.1(CC2D2A):c.3283G>T (p.Gly1095Cys)
|
|
|
NM_001378615.1(CC2D2A):c.3288+5G>A
|
rs1719939393
|
|
NM_001378615.1(CC2D2A):c.3288G>C (p.Gln1096His)
|
rs863225169
|
|
NM_001378615.1(CC2D2A):c.3289-2del
|
rs774235067
|
|
NM_001378615.1(CC2D2A):c.3291_3296del (p.Leu1098_Val1099del)
|
rs1307456757
|
|
NM_001378615.1(CC2D2A):c.3295G>A (p.Val1099Ile)
|
rs1349492467
|
|
NM_001378615.1(CC2D2A):c.3295G>T (p.Val1099Leu)
|
|
|
NM_001378615.1(CC2D2A):c.3298C>A (p.Arg1100Ser)
|
|
|
NM_001378615.1(CC2D2A):c.3313G>A (p.Val1105Ile)
|
|
|
NM_001378615.1(CC2D2A):c.3334T>G (p.Cys1112Gly)
|
rs754824046
|
|
NM_001378615.1(CC2D2A):c.3363C>A (p.Asn1121Lys)
|
|
|
NM_001378615.1(CC2D2A):c.3368G>C (p.Ser1123Thr)
|
|
|
NM_001378615.1(CC2D2A):c.3425C>G (p.Ala1142Gly)
|
rs1252635827
|
|
NM_001378615.1(CC2D2A):c.3435G>C (p.Gln1145His)
|
rs1479626818
|
|
NM_001378615.1(CC2D2A):c.3445G>A (p.Asp1149Asn)
|
|
|
NM_001378615.1(CC2D2A):c.3447T>A (p.Asp1149Glu)
|
rs772795748
|
|
NM_001378615.1(CC2D2A):c.3447TGT[1] (p.Val1151del)
|
|
|
NM_001378615.1(CC2D2A):c.3483T>G (p.His1161Gln)
|
|
|
NM_001378615.1(CC2D2A):c.3485A>C (p.Asp1162Ala)
|
|
|
NM_001378615.1(CC2D2A):c.3527C>A (p.Thr1176Asn)
|
rs754966579
|
|
NM_001378615.1(CC2D2A):c.3527C>T (p.Thr1176Ile)
|
rs754966579
|
|
NM_001378615.1(CC2D2A):c.352G>A (p.Ala118Thr)
|
rs1214212437
|
|
NM_001378615.1(CC2D2A):c.3530G>A (p.Arg1177His)
|
rs1409338849
|
|
NM_001378615.1(CC2D2A):c.353C>G (p.Ala118Gly)
|
|
|
NM_001378615.1(CC2D2A):c.3548T>A (p.Leu1183Gln)
|
rs2109073973
|
|
NM_001378615.1(CC2D2A):c.3554G>A (p.Cys1185Tyr)
|
rs1720105141
|
|
NM_001378615.1(CC2D2A):c.3562A>G (p.Met1188Val)
|
|
|
NM_001378615.1(CC2D2A):c.3565C>T (p.Pro1189Ser)
|
|
|
NM_001378615.1(CC2D2A):c.357G>C (p.Leu119Phe)
|
|
|
NM_001378615.1(CC2D2A):c.3605C>T (p.Thr1202Ile)
|
|
|
NM_001378615.1(CC2D2A):c.3616G>T (p.Asp1206Tyr)
|
|
|
NM_001378615.1(CC2D2A):c.3620T>C (p.Ile1207Thr)
|
rs2109077863
|
|
NM_001378615.1(CC2D2A):c.3643A>C (p.Ser1215Arg)
|
rs765661601
|
|
NM_001378615.1(CC2D2A):c.3649G>A (p.Glu1217Lys)
|
|
|
NM_001378615.1(CC2D2A):c.3685G>T (p.Val1229Phe)
|
|
|
NM_001378615.1(CC2D2A):c.3689G>A (p.Arg1230Gln)
|
rs778082588
|
|
NM_001378615.1(CC2D2A):c.3707_3709dup (p.Ser1236dup)
|
rs1720298896
|
|
NM_001378615.1(CC2D2A):c.3725T>C (p.Ile1242Thr)
|
|
|
NM_001378615.1(CC2D2A):c.3764G>A (p.Arg1255Gln)
|
|
|
NM_001378615.1(CC2D2A):c.3779C>T (p.Ser1260Phe)
|
rs759726075
|
|
NM_001378615.1(CC2D2A):c.3790G>A (p.Glu1264Lys)
|
|
|
NM_001378615.1(CC2D2A):c.3799C>G (p.Leu1267Val)
|
|
|
NM_001378615.1(CC2D2A):c.3805G>A (p.Ala1269Thr)
|
rs753246574
|
|
NM_001378615.1(CC2D2A):c.3814A>G (p.Lys1272Glu)
|
|
|
NM_001378615.1(CC2D2A):c.3856T>C (p.Cys1286Arg)
|
rs1347377004
|
|
NM_001378615.1(CC2D2A):c.3873T>G (p.Ile1291Met)
|
|
|
NM_001378615.1(CC2D2A):c.3878T>C (p.Ile1293Thr)
|
|
|
NM_001378615.1(CC2D2A):c.3889_3890delinsCG (p.Thr1297Arg)
|
|
|
NM_001378615.1(CC2D2A):c.3893T>A (p.Val1298Asp)
|
rs386833758
|
|
NM_001378615.1(CC2D2A):c.39+6T>A
|
|
|
NM_001378615.1(CC2D2A):c.3902C>T (p.Thr1301Ile)
|
|
|
NM_001378615.1(CC2D2A):c.3904C>T (p.Arg1302Cys)
|
rs1398696429
|
|
NM_001378615.1(CC2D2A):c.3905G>A (p.Arg1302His)
|
rs988477564
|
|
NM_001378615.1(CC2D2A):c.3924C>A (p.Asn1308Lys)
|
|
|
NM_001378615.1(CC2D2A):c.3943A>T (p.Asn1315Tyr)
|
|
|
NM_001378615.1(CC2D2A):c.3953C>G (p.Pro1318Arg)
|
|
|
NM_001378615.1(CC2D2A):c.395G>A (p.Arg132Gln)
|
rs772016081
|
|
NM_001378615.1(CC2D2A):c.3976-19G>T
|
|
|
NM_001378615.1(CC2D2A):c.3976-3C>A
|
rs576298659
|
|
NM_001378615.1(CC2D2A):c.3976-3C>T
|
rs576298659
|
|
NM_001378615.1(CC2D2A):c.3978A>C (p.Glu1326Asp)
|
|
|
NM_001378615.1(CC2D2A):c.398G>A (p.Ser133Asn)
|
|
|
NM_001378615.1(CC2D2A):c.4001T>C (p.Leu1334Ser)
|
rs1577396363
|
|
NM_001378615.1(CC2D2A):c.4015C>T (p.Pro1339Ser)
|
rs781057021
|
|
NM_001378615.1(CC2D2A):c.4037G>C (p.Gly1346Ala)
|
rs1720849726
|
|
NM_001378615.1(CC2D2A):c.4037G>T (p.Gly1346Val)
|
|
|
NM_001378615.1(CC2D2A):c.4065+6T>C
|
|
|
NM_001378615.1(CC2D2A):c.4066-11_4066-8del
|
|
|
NM_001378615.1(CC2D2A):c.4067A>G (p.Gln1356Arg)
|
rs771460583
|
|
NM_001378615.1(CC2D2A):c.4068A>C (p.Gln1356His)
|
|
|
NM_001378615.1(CC2D2A):c.4090G>A (p.Asp1364Asn)
|
rs768130176
|
|
NM_001378615.1(CC2D2A):c.40G>A (p.Glu14Lys)
|
|
|
NM_001378615.1(CC2D2A):c.4126T>C (p.Phe1376Leu)
|
|
|
NM_001378615.1(CC2D2A):c.4130T>C (p.Leu1377Pro)
|
rs2109090351
|
|
NM_001378615.1(CC2D2A):c.4139G>A (p.Gly1380Asp)
|
rs1271963891
|
|
NM_001378615.1(CC2D2A):c.4144_4145delinsGC (p.Lys1382Ala)
|
|
|
NM_001378615.1(CC2D2A):c.4160T>C (p.Met1387Thr)
|
|
|
NM_001378615.1(CC2D2A):c.4171A>T (p.Ile1391Phe)
|
|
|
NM_001378615.1(CC2D2A):c.4186A>G (p.Thr1396Ala)
|
|
|
NM_001378615.1(CC2D2A):c.4189G>C (p.Ala1397Pro)
|
|
|
NM_001378615.1(CC2D2A):c.4206G>C (p.Trp1402Cys)
|
rs1720998794
|
|
NM_001378615.1(CC2D2A):c.4216C>T (p.Arg1406Cys)
|
|
|
NM_001378615.1(CC2D2A):c.4228T>C (p.Trp1410Arg)
|
|
|
NM_001378615.1(CC2D2A):c.4233T>A (p.Asn1411Lys)
|
rs1721000269
|
|
NM_001378615.1(CC2D2A):c.4234C>T (p.Pro1412Ser)
|
|
|
NM_001378615.1(CC2D2A):c.4240A>G (p.Ser1414Gly)
|
|
|
NM_001378615.1(CC2D2A):c.4241G>A (p.Ser1414Asn)
|
|
|
NM_001378615.1(CC2D2A):c.4244G>T (p.Gly1415Val)
|
|
|
NM_001378615.1(CC2D2A):c.4246C>A (p.His1416Asn)
|
|
|
NM_001378615.1(CC2D2A):c.4273T>C (p.Cys1425Arg)
|
|
|
NM_001378615.1(CC2D2A):c.4315-6_4315-3del
|
rs926806639
|
|
NM_001378615.1(CC2D2A):c.4374G>C (p.Arg1458Ser)
|
|
|
NM_001378615.1(CC2D2A):c.438G>A (p.Glu146=)
|
rs1215345163
|
|
NM_001378615.1(CC2D2A):c.439-5_492dup
|
|
|
NM_001378615.1(CC2D2A):c.4393T>G (p.Phe1465Val)
|
|
|
NM_001378615.1(CC2D2A):c.4437+4T>C
|
|
|
NM_001378615.1(CC2D2A):c.4437+6A>C
|
|
|
NM_001378615.1(CC2D2A):c.4437G>A (p.Gln1479=)
|
rs878854168
|
|
NM_001378615.1(CC2D2A):c.4437G>C (p.Gln1479His)
|
rs878854168
|
|
NM_001378615.1(CC2D2A):c.4460G>T (p.Arg1487Leu)
|
|
|
NM_001378615.1(CC2D2A):c.4465G>C (p.Asp1489His)
|
|
|
NM_001378615.1(CC2D2A):c.4492G>C (p.Asp1498His)
|
|
|
NM_001378615.1(CC2D2A):c.4496+5C>T
|
rs1721369264
|
|
NM_001378615.1(CC2D2A):c.4496+6A>G
|
|
|
NM_001378615.1(CC2D2A):c.4506A>C (p.Lys1502Asn)
|
|
|
NM_001378615.1(CC2D2A):c.4522A>C (p.Ile1508Leu)
|
|
|
NM_001378615.1(CC2D2A):c.4544A>G (p.His1515Arg)
|
|
|
NM_001378615.1(CC2D2A):c.4601T>C (p.Leu1534Ser)
|
rs2148495981
|
|
NM_001378615.1(CC2D2A):c.4624G>A (p.Val1542Ile)
|
rs1721490248
|
|
NM_001378615.1(CC2D2A):c.4625T>C (p.Val1542Ala)
|
|
|
NM_001378615.1(CC2D2A):c.4654A>C (p.Lys1552Gln)
|
rs2148496033
|
|
NM_001378615.1(CC2D2A):c.4666G>C (p.Asp1556His)
|
rs1721493626
|
|
NM_001378615.1(CC2D2A):c.4674+6T>C
|
rs1340397034
|
|
NM_001378615.1(CC2D2A):c.4679C>T (p.Ser1560Phe)
|
|
|
NM_001378615.1(CC2D2A):c.4690C>T (p.Leu1564Phe)
|
rs1441082551
|
|
NM_001378615.1(CC2D2A):c.4699C>T (p.Pro1567Ser)
|
rs2148497378
|
|
NM_001378615.1(CC2D2A):c.4705T>G (p.Ser1569Ala)
|
|
|
NM_001378615.1(CC2D2A):c.4718C>T (p.Pro1573Leu)
|
|
|
NM_001378615.1(CC2D2A):c.4733T>C (p.Val1578Ala)
|
rs2148497423
|
|
NM_001378615.1(CC2D2A):c.4736A>G (p.Tyr1579Cys)
|
|
|
NM_001378615.1(CC2D2A):c.4746_4747dup (p.Val1583fs)
|
rs1721586115
|
|
NM_001378615.1(CC2D2A):c.4757T>A (p.Ile1586Asn)
|
|
|
NM_001378615.1(CC2D2A):c.4808C>G (p.Pro1603Arg)
|
rs2148497490
|
|
NM_001378615.1(CC2D2A):c.4819_4820del (p.Leu1607fs)
|
|
|
NM_001378615.1(CC2D2A):c.4835A>G (p.Tyr1612Cys)
|
rs368070611
|
|
NM_001378615.1(CC2D2A):c.483A>C (p.Gln161His)
|
|
|
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs)
|
rs863225175
|
|
NM_001378615.1(CC2D2A):c.4847T>A (p.Leu1616His)
|
|
|
NM_001378615.1(CC2D2A):c.4852C>A (p.Arg1618Ser)
|
rs201219078
|
|
NM_001378615.1(CC2D2A):c.4852C>G (p.Arg1618Gly)
|
|
|
NM_001378615.1(CC2D2A):c.494G>A (p.Arg165Lys)
|
rs911542623
|
|
NM_001378615.1(CC2D2A):c.503T>C (p.Phe168Ser)
|
rs1226794909
|
|
NM_001378615.1(CC2D2A):c.505C>T (p.His169Tyr)
|
rs1716491115
|
|
NM_001378615.1(CC2D2A):c.540+4A>G
|
|
|
NM_001378615.1(CC2D2A):c.540+5G>C
|
|
|
NM_001378615.1(CC2D2A):c.541-3T>A
|
|
|
NM_001378615.1(CC2D2A):c.541-9T>A
|
rs1434091819
|
|
NM_001378615.1(CC2D2A):c.556C>G (p.Pro186Ala)
|
|
|
NM_001378615.1(CC2D2A):c.574T>A (p.Tyr192Asn)
|
|
|
NM_001378615.1(CC2D2A):c.58G>A (p.Glu20Lys)
|
rs1714407144
|
|
NM_001378615.1(CC2D2A):c.596T>C (p.Phe199Ser)
|
|
|
NM_001378615.1(CC2D2A):c.5A>G (p.Asn2Ser)
|
|
|
NM_001378615.1(CC2D2A):c.602C>G (p.Pro201Arg)
|
|
|
NM_001378615.1(CC2D2A):c.635C>A (p.Ala212Glu)
|
|
|
NM_001378615.1(CC2D2A):c.644G>C (p.Arg215Thr)
|
|
|
NM_001378615.1(CC2D2A):c.646G>C (p.Ala216Pro)
|
|
|
NM_001378615.1(CC2D2A):c.663GGA[2] (p.Glu224del)
|
rs1553825978
|
|
NM_001378615.1(CC2D2A):c.664G>A (p.Glu222Lys)
|
rs2109007768
|
|
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys)
|
rs1716561509
|
|
NM_001378615.1(CC2D2A):c.708A>T (p.Gly236=)
|
rs1716563559
|
|
NM_001378615.1(CC2D2A):c.733C>T (p.Leu245Phe)
|
|
|
NM_001378615.1(CC2D2A):c.757T>C (p.Phe253Leu)
|
|
|
NM_001378615.1(CC2D2A):c.781G>C (p.Ala261Pro)
|
rs2109011616
|
|
NM_001378615.1(CC2D2A):c.786C>A (p.Asp262Glu)
|
rs200434902
|
|
NM_001378615.1(CC2D2A):c.811G>A (p.Asp271Asn)
|
|
|
NM_001378615.1(CC2D2A):c.857T>A (p.Leu286His)
|
|
|
NM_001378615.1(CC2D2A):c.865C>T (p.Pro289Ser)
|
rs371405756
|
|
NM_001378615.1(CC2D2A):c.889T>C (p.Tyr297His)
|
rs2109012755
|
|
NM_001378615.1(CC2D2A):c.906G>A (p.Glu302=)
|
|
|
NM_001378615.1(CC2D2A):c.907A>T (p.Asn303Tyr)
|
|
|
NM_001378615.1(CC2D2A):c.918C>T (p.Pro306=)
|
|
|
NM_001378615.1(CC2D2A):c.967G>A (p.Ala323Thr)
|
|
|
NM_001378615.1(CC2D2A):c.968C>T (p.Ala323Val)
|
rs2109012891
|
|
NM_001378615.1(CC2D2A):c.989T>C (p.Met330Thr)
|
rs1553826997
|
|
NM_001378615.1(CC2D2A):c.991G>A (p.Glu331Lys)
|
rs954758606
|
|
NM_001382391.1(CSPP1):c.*3_*6dup (p.Ter1227=)
|
rs764952763
|
|
NM_001382391.1(CSPP1):c.-104A>G
|
|
|
NM_001382391.1(CSPP1):c.-104A>T
|
rs1805077545
|
|
NM_001382391.1(CSPP1):c.-108C>T
|
rs2129538420
|
|
NM_001382391.1(CSPP1):c.-125C>A
|
|
|
NM_001382391.1(CSPP1):c.-128C>T
|
rs775895663
|
|
NM_001382391.1(CSPP1):c.-138C>A
|
rs373705126
|
|
NM_001382391.1(CSPP1):c.-138C>T
|
|
|
NM_001382391.1(CSPP1):c.-142C>A
|
rs1023702149
|
|
NM_001382391.1(CSPP1):c.-143T>A
|
rs1164437313
|
|
NM_001382391.1(CSPP1):c.-147C>G
|
|
|
NM_001382391.1(CSPP1):c.-149T>A
|
rs768356971
|
|
NM_001382391.1(CSPP1):c.-149T>G
|
|
|
NM_001382391.1(CSPP1):c.-150A>T
|
|
|
NM_001382391.1(CSPP1):c.-47A>G
|
|
|
NM_001382391.1(CSPP1):c.-57C>G
|
|
|
NM_001382391.1(CSPP1):c.-66G>A
|
rs2129538438
|
|
NM_001382391.1(CSPP1):c.-68G>A
|
rs2129538437
|
|
NM_001382391.1(CSPP1):c.-68G>C
|
|
|
NM_001382391.1(CSPP1):c.-74G>A
|
|
|
NM_001382391.1(CSPP1):c.-80C>G
|
rs745897839
|
|
NM_001382391.1(CSPP1):c.-90C>T
|
|
|
NM_001382391.1(CSPP1):c.-96C>G
|
rs751458139
|
|
NM_001382391.1(CSPP1):c.1022G>A (p.Ser341Asn)
|
|
|
NM_001382391.1(CSPP1):c.1023-3T>C
|
|
|
NM_001382391.1(CSPP1):c.1024G>T (p.Ala342Ser)
|
|
|
NM_001382391.1(CSPP1):c.1027C>T (p.Pro343Ser)
|
|
|
NM_001382391.1(CSPP1):c.1030G>T (p.Asp344Tyr)
|
rs2129547771
|
|
NM_001382391.1(CSPP1):c.1045A>G (p.Lys349Glu)
|
|
|
NM_001382391.1(CSPP1):c.1051G>A (p.Ala351Thr)
|
|
|
NM_001382391.1(CSPP1):c.1056T>A (p.Asn352Lys)
|
rs1815423493
|
|
NM_001382391.1(CSPP1):c.1066T>C (p.Cys356Arg)
|
|
|
NM_001382391.1(CSPP1):c.1078G>T (p.Ala360Ser)
|
|
|
NM_001382391.1(CSPP1):c.108G>T (p.Leu36Phe)
|
rs1807945498
|
|
NM_001382391.1(CSPP1):c.1093+3A>G
|
rs1815432822
|
|
NM_001382391.1(CSPP1):c.1100A>G (p.Glu367Gly)
|
rs2129549763
|
|
NM_001382391.1(CSPP1):c.1101A>G (p.Glu367=)
|
rs768714635
|
|
NM_001382391.1(CSPP1):c.1102G>A (p.Asp368Asn)
|
|
|
NM_001382391.1(CSPP1):c.1111C>T (p.Leu371Phe)
|
|
|
NM_001382391.1(CSPP1):c.1124G>A (p.Arg375Lys)
|
rs748162424
|
|
NM_001382391.1(CSPP1):c.1138A>G (p.Arg380Gly)
|
rs1816951976
|
|
NM_001382391.1(CSPP1):c.1172A>G (p.Gln391Arg)
|
|
|
NM_001382391.1(CSPP1):c.1187G>C (p.Arg396Pro)
|
rs760205035
|
|
NM_001382391.1(CSPP1):c.1188-3T>C
|
|
|
NM_001382391.1(CSPP1):c.1196A>G (p.Asp399Gly)
|
|
|
NM_001382391.1(CSPP1):c.1198T>G (p.Leu400Val)
|
rs2129550393
|
|
NM_001382391.1(CSPP1):c.1209G>C (p.Arg403Ser)
|
|
|
NM_001382391.1(CSPP1):c.1209G>T (p.Arg403Ser)
|
rs370123119
|
|
NM_001382391.1(CSPP1):c.1210G>T (p.Val404Phe)
|
|
|
NM_001382391.1(CSPP1):c.1234C>T (p.Pro412Ser)
|
rs201880658
|
|
NM_001382391.1(CSPP1):c.1245G>T (p.Ser415=)
|
|
|
NM_001382391.1(CSPP1):c.1291G>A (p.Asp431Asn)
|
|
|
NM_001382391.1(CSPP1):c.1298T>G (p.Leu433Arg)
|
|
|
NM_001382391.1(CSPP1):c.1313T>C (p.Val438Ala)
|
rs2129550845
|
|
NM_001382391.1(CSPP1):c.1336A>G (p.Met446Val)
|
rs2129550849
|
|
NM_001382391.1(CSPP1):c.1342C>T (p.Pro448Ser)
|
rs2129550850
|
|
NM_001382391.1(CSPP1):c.1384C>T (p.Pro462Ser)
|
|
|
NM_001382391.1(CSPP1):c.1399T>C (p.Ser467Pro)
|
rs747312980
|
|
NM_001382391.1(CSPP1):c.1402G>C (p.Val468Leu)
|
rs376880257
|
|
NM_001382391.1(CSPP1):c.1406C>T (p.Pro469Leu)
|
|
|
NM_001382391.1(CSPP1):c.1424A>G (p.His475Arg)
|
rs2129550870
|
|
NM_001382391.1(CSPP1):c.1425T>G (p.His475Gln)
|
|
|
NM_001382391.1(CSPP1):c.1454G>T (p.Arg485Leu)
|
rs767353646
|
|
NM_001382391.1(CSPP1):c.1456A>G (p.Ser486Gly)
|
|
|
NM_001382391.1(CSPP1):c.1457G>A (p.Ser486Asn)
|
|
|
NM_001382391.1(CSPP1):c.1472C>A (p.Ala491Asp)
|
rs2129550877
|
|
NM_001382391.1(CSPP1):c.1498A>T (p.Ile500Phe)
|
|
|
NM_001382391.1(CSPP1):c.1504C>T (p.Pro502Ser)
|
|
|
NM_001382391.1(CSPP1):c.1541C>A (p.Thr514Asn)
|
|
|
NM_001382391.1(CSPP1):c.1556C>A (p.Pro519His)
|
|
|
NM_001382391.1(CSPP1):c.1567G>T (p.Ala523Ser)
|
|
|
NM_001382391.1(CSPP1):c.1571A>T (p.Tyr524Phe)
|
rs1818329945
|
|
NM_001382391.1(CSPP1):c.1574A>G (p.Tyr525Cys)
|
rs2129551362
|
|
NM_001382391.1(CSPP1):c.1576T>A (p.Phe526Ile)
|
rs2129551363
|
|
NM_001382391.1(CSPP1):c.1600G>T (p.Asp534Tyr)
|
|
|
NM_001382391.1(CSPP1):c.1612G>T (p.Ala538Ser)
|
|
|
NM_001382391.1(CSPP1):c.1616A>G (p.Tyr539Cys)
|
rs766545455
|
|
NM_001382391.1(CSPP1):c.1639G>C (p.Val547Leu)
|
rs772097768
|
|
NM_001382391.1(CSPP1):c.1643A>C (p.Gln548Pro)
|
rs369723292
|
|
NM_001382391.1(CSPP1):c.1643A>G (p.Gln548Arg)
|
rs369723292
|
|
NM_001382391.1(CSPP1):c.1648G>A (p.Ala550Thr)
|
rs1028530380
|
|
NM_001382391.1(CSPP1):c.1661G>A (p.Ser554Asn)
|
rs2129551469
|
|
NM_001382391.1(CSPP1):c.166C>T (p.Pro56Ser)
|
|
|
NM_001382391.1(CSPP1):c.1691C>G (p.Pro564Arg)
|
|
|
NM_001382391.1(CSPP1):c.1691C>T (p.Pro564Leu)
|
rs2129551479
|
|
NM_001382391.1(CSPP1):c.169C>T (p.Pro57Ser)
|
|
|
NM_001382391.1(CSPP1):c.1703C>A (p.Thr568Lys)
|
rs375847469
|
|
NM_001382391.1(CSPP1):c.1708G>A (p.Gly570Arg)
|
rs2129554180
|
|
NM_001382391.1(CSPP1):c.1724A>G (p.Lys575Arg)
|
|
|
NM_001382391.1(CSPP1):c.1728T>G (p.Ile576Met)
|
rs2129554181
|
|
NM_001382391.1(CSPP1):c.1767_1769del (p.Glu589del)
|
rs1821332797
|
|
NM_001382391.1(CSPP1):c.1771A>C (p.Lys591Gln)
|
|
|
NM_001382391.1(CSPP1):c.1775C>T (p.Pro592Leu)
|
|
|
NM_001382391.1(CSPP1):c.1780C>T (p.Pro594Ser)
|
|
|
NM_001382391.1(CSPP1):c.1784C>A (p.Ser595Tyr)
|
|
|
NM_001382391.1(CSPP1):c.1801T>C (p.Ser601Pro)
|
|
|
NM_001382391.1(CSPP1):c.1827G>A (p.Gln609=)
|
|
|
NM_001382391.1(CSPP1):c.1832G>A (p.Arg611Gln)
|
rs771386855
|
|
NM_001382391.1(CSPP1):c.1850G>A (p.Arg617Lys)
|
|
|
NM_001382391.1(CSPP1):c.1867G>A (p.Glu623Lys)
|
|
|
NM_001382391.1(CSPP1):c.1873G>A (p.Glu625Lys)
|
rs2129555264
|
|
NM_001382391.1(CSPP1):c.187A>G (p.Arg63Gly)
|
rs767674652
|
|
NM_001382391.1(CSPP1):c.188G>C (p.Arg63Thr)
|
rs752873157
|
|
NM_001382391.1(CSPP1):c.1897G>C (p.Ala633Pro)
|
rs2129555267
|
|
NM_001382391.1(CSPP1):c.18T>A (p.Asp6Glu)
|
rs2129541315
|
|
NM_001382391.1(CSPP1):c.191G>A (p.Gly64Asp)
|
rs1807963359
|
|
NM_001382391.1(CSPP1):c.1929A>T (p.Lys643Asn)
|
rs1822601037
|
|
NM_001382391.1(CSPP1):c.1937G>A (p.Gly646Asp)
|
rs923561338
|
|
NM_001382391.1(CSPP1):c.1942G>A (p.Ala648Thr)
|
|
|
NM_001382391.1(CSPP1):c.1958C>T (p.Ala653Val)
|
|
|
NM_001382391.1(CSPP1):c.1960A>G (p.Lys654Glu)
|
|
|
NM_001382391.1(CSPP1):c.1967A>G (p.Asn656Ser)
|
rs1822608915
|
|
NM_001382391.1(CSPP1):c.1969C>G (p.Leu657Val)
|
|
|
NM_001382391.1(CSPP1):c.1972A>G (p.Ile658Val)
|
rs2129555283
|
|
NM_001382391.1(CSPP1):c.1975+5G>A
|
|
|
NM_001382391.1(CSPP1):c.1975+6T>C
|
|
|
NM_001382391.1(CSPP1):c.1991T>C (p.Met664Thr)
|
|
|
NM_001382391.1(CSPP1):c.2036C>G (p.Thr679Arg)
|
rs766230896
|
|
NM_001382391.1(CSPP1):c.2048A>C (p.Lys683Thr)
|
rs1226391179
|
|
NM_001382391.1(CSPP1):c.2056G>C (p.Val686Leu)
|
rs761009916
|
|
NM_001382391.1(CSPP1):c.2059G>T (p.Val687Leu)
|
rs764240953
|
|
NM_001382391.1(CSPP1):c.2062T>C (p.Ser688Pro)
|
|
|
NM_001382391.1(CSPP1):c.2066T>C (p.Leu689Pro)
|
rs2129558004
|
|
NM_001382391.1(CSPP1):c.206A>G (p.Asp69Gly)
|
|
|
NM_001382391.1(CSPP1):c.2099A>G (p.Asn700Ser)
|
rs2129558011
|
|
NM_001382391.1(CSPP1):c.2114C>A (p.Ala705Glu)
|
rs1825359470
|
|
NM_001382391.1(CSPP1):c.2122A>C (p.Ser708Arg)
|
|
|
NM_001382391.1(CSPP1):c.2129-16A>G
|
rs1826203961
|
|
NM_001382391.1(CSPP1):c.2129G>T (p.Gly710Val)
|
rs780885390
|
|
NM_001382391.1(CSPP1):c.2136G>A (p.Met712Ile)
|
|
|
NM_001382391.1(CSPP1):c.2162G>T (p.Arg721Leu)
|
rs201974031
|
|
NM_001382391.1(CSPP1):c.2174T>C (p.Phe725Ser)
|
rs2129559050
|
|
NM_001382391.1(CSPP1):c.2183C>G (p.Pro728Arg)
|
|
|
NM_001382391.1(CSPP1):c.2188A>G (p.Thr730Ala)
|
|
|
NM_001382391.1(CSPP1):c.2194C>T (p.Leu732Phe)
|
rs2129559060
|
|
NM_001382391.1(CSPP1):c.2201T>A (p.Ile734Asn)
|
|
|
NM_001382391.1(CSPP1):c.2206C>A (p.Gln736Lys)
|
rs2129559063
|
|
NM_001382391.1(CSPP1):c.2218T>C (p.Tyr740His)
|
|
|
NM_001382391.1(CSPP1):c.2226T>A (p.Asn742Lys)
|
rs1826224959
|
|
NM_001382391.1(CSPP1):c.2234G>C (p.Arg745Pro)
|
rs769971911
|
|
NM_001382391.1(CSPP1):c.2240A>T (p.Gln747Leu)
|
rs2129559079
|
|
NM_001382391.1(CSPP1):c.2241+9C>G
|
rs1826230466
|
|
NM_001382391.1(CSPP1):c.224C>T (p.Pro75Leu)
|
|
|
NM_001382391.1(CSPP1):c.2263G>A (p.Glu755Lys)
|
|
|
NM_001382391.1(CSPP1):c.2297A>G (p.Glu766Gly)
|
|
|
NM_001382391.1(CSPP1):c.2305GAA[1] (p.Glu770del)
|
rs2129560139
|
|
NM_001382391.1(CSPP1):c.2315G>A (p.Arg772Gln)
|
|
|
NM_001382391.1(CSPP1):c.2323G>C (p.Glu775Gln)
|
|
|
NM_001382391.1(CSPP1):c.236A>T (p.Asp79Val)
|
|
|
NM_001382391.1(CSPP1):c.2370G>T (p.Lys790Asn)
|
|
|
NM_001382391.1(CSPP1):c.2377G>C (p.Glu793Gln)
|
|
|
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly)
|
rs1827120184
|
|
NM_001382391.1(CSPP1):c.2391+3A>T
|
rs1338097590
|
|
NM_001382391.1(CSPP1):c.2391+4C>T
|
|
|
NM_001382391.1(CSPP1):c.2398C>G (p.Leu800Val)
|
rs2129560252
|
|
NM_001382391.1(CSPP1):c.2409_2411del (p.Glu804del)
|
rs773946059
|
|
NM_001382391.1(CSPP1):c.2411A>C (p.Glu804Ala)
|
|
|
NM_001382391.1(CSPP1):c.2419C>G (p.Arg807Gly)
|
|
|
NM_001382391.1(CSPP1):c.2425G>A (p.Ala809Thr)
|
rs1283124706
|
|
NM_001382391.1(CSPP1):c.2464GAA[3] (p.Glu825del)
|
rs750079297
|
|
NM_001382391.1(CSPP1):c.2491C>T (p.Leu831Phe)
|
|
|
NM_001382391.1(CSPP1):c.2504G>A (p.Cys835Tyr)
|
|
|
NM_001382391.1(CSPP1):c.2514C>G (p.Asp838Glu)
|
|
|
NM_001382391.1(CSPP1):c.251A>C (p.Lys84Thr)
|
|
|
NM_001382391.1(CSPP1):c.2525G>A (p.Gly842Glu)
|
rs752478502
|
|
NM_001382391.1(CSPP1):c.2530G>A (p.Glu844Lys)
|
rs909732603
|
|
NM_001382391.1(CSPP1):c.2530G>C (p.Glu844Gln)
|
|
|
NM_001382391.1(CSPP1):c.2533A>T (p.Thr845Ser)
|
rs1484918109
|
|
NM_001382391.1(CSPP1):c.2539-18A>G
|
|
|
NM_001382391.1(CSPP1):c.2542A>G (p.Met848Val)
|
|
|
NM_001382391.1(CSPP1):c.2557_2559del (p.Pro853del)
|
rs1828417560
|
|
NM_001382391.1(CSPP1):c.2563G>C (p.Val855Leu)
|
rs1828419474
|
|
NM_001382391.1(CSPP1):c.2594A>G (p.Lys865Arg)
|
|
|
NM_001382391.1(CSPP1):c.2594A>T (p.Lys865Ile)
|
rs1828425319
|
|
NM_001382391.1(CSPP1):c.259T>A (p.Leu87Ile)
|
rs2129543528
|
|
NM_001382391.1(CSPP1):c.2600A>G (p.Gln867Arg)
|
|
|
NM_001382391.1(CSPP1):c.2633C>T (p.Ser878Phe)
|
rs2129561809
|
|
NM_001382391.1(CSPP1):c.2641C>G (p.His881Asp)
|
rs1828434498
|
|
NM_001382391.1(CSPP1):c.2643+4T>C
|
|
|
NM_001382391.1(CSPP1):c.2643+4T>G
|
rs748730202
|
|
NM_001382391.1(CSPP1):c.2644-11T>G
|
|
|
NM_001382391.1(CSPP1):c.2644-14T>G
|
rs2129562428
|
|
NM_001382391.1(CSPP1):c.2657C>T (p.Ser886Phe)
|
|
|
NM_001382391.1(CSPP1):c.2675C>G (p.Pro892Arg)
|
rs779762140
|
|
NM_001382391.1(CSPP1):c.2675C>T (p.Pro892Leu)
|
|
|
NM_001382391.1(CSPP1):c.2686A>G (p.Arg896Gly)
|
rs2129562479
|
|
NM_001382391.1(CSPP1):c.2687G>A (p.Arg896Lys)
|
|
|
NM_001382391.1(CSPP1):c.2692A>C (p.Asn898His)
|
rs1828818248
|
|
NM_001382391.1(CSPP1):c.2701C>T (p.Arg901Cys)
|
rs757750162
|
|
NM_001382391.1(CSPP1):c.271T>A (p.Leu91Met)
|
rs374300498
|
|
NM_001382391.1(CSPP1):c.2723A>G (p.Asn908Ser)
|
|
|
NM_001382391.1(CSPP1):c.2735A>G (p.Glu912Gly)
|
rs1586651470
|
|
NM_001382391.1(CSPP1):c.2740T>C (p.Ser914Pro)
|
|
|
NM_001382391.1(CSPP1):c.2741C>T (p.Ser914Leu)
|
rs779579881
|
|
NM_001382391.1(CSPP1):c.274C>T (p.Arg92Trp)
|
rs367889164
|
|
NM_001382391.1(CSPP1):c.2753A>G (p.Lys918Arg)
|
|
|
NM_001382391.1(CSPP1):c.275G>A (p.Arg92Gln)
|
rs764280843
|
|
NM_001382391.1(CSPP1):c.2761C>T (p.Arg921Cys)
|
rs776600422
|
|
NM_001382391.1(CSPP1):c.2785G>C (p.Glu929Gln)
|
|
|
NM_001382391.1(CSPP1):c.2788C>G (p.Arg930Gly)
|
|
|
NM_001382391.1(CSPP1):c.280G>A (p.Asp94Asn)
|
rs1182648944
|
|
NM_001382391.1(CSPP1):c.2810A>G (p.Asp937Gly)
|
|
|
NM_001382391.1(CSPP1):c.2812G>C (p.Asp938His)
|
rs1402959828
|
|
NM_001382391.1(CSPP1):c.2821C>A (p.Pro941Thr)
|
|
|
NM_001382391.1(CSPP1):c.2821C>G (p.Pro941Ala)
|
|
|
NM_001382391.1(CSPP1):c.2824A>G (p.Ile942Val)
|
|
|
NM_001382391.1(CSPP1):c.2828+2C>T
|
rs1828946939
|
|
NM_001382391.1(CSPP1):c.2855T>C (p.Ile952Thr)
|
|
|
NM_001382391.1(CSPP1):c.2869A>G (p.Arg957Gly)
|
|
|
NM_001382391.1(CSPP1):c.2887C>G (p.Pro963Ala)
|
rs770066826
|
|
NM_001382391.1(CSPP1):c.2887C>T (p.Pro963Ser)
|
rs770066826
|
|
NM_001382391.1(CSPP1):c.2888C>T (p.Pro963Leu)
|
rs781283590
|
|
NM_001382391.1(CSPP1):c.2906C>G (p.Pro969Arg)
|
rs1480057271
|
|
NM_001382391.1(CSPP1):c.2939T>G (p.Val980Gly)
|
rs1830675527
|
|
NM_001382391.1(CSPP1):c.2967A>G (p.Arg989=)
|
rs2129567311
|
|
NM_001382391.1(CSPP1):c.2968+5G>A
|
rs1057524684
|
|
NM_001382391.1(CSPP1):c.2968G>A (p.Asp990Asn)
|
rs1830678644
|
|
NM_001382391.1(CSPP1):c.3011C>T (p.Pro1004Leu)
|
rs993509179
|
|
NM_001382391.1(CSPP1):c.3029C>T (p.Thr1010Ile)
|
rs750443075
|
|
NM_001382391.1(CSPP1):c.303+5T>C
|
rs1332818013
|
|
NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys)
|
rs374717800
|
|
NM_001382391.1(CSPP1):c.3040C>G (p.Gln1014Glu)
|
rs374717800
|
|
NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val)
|
rs1831355993
|
|
NM_001382391.1(CSPP1):c.3072G>C (p.Lys1024Asn)
|
|
|
NM_001382391.1(CSPP1):c.3109+4dup
|
rs2129568589
|
|
NM_001382391.1(CSPP1):c.3143G>A (p.Arg1048Gln)
|
|
|
NM_001382391.1(CSPP1):c.3155T>C (p.Met1052Thr)
|
|
|
NM_001382391.1(CSPP1):c.3166G>A (p.Asp1056Asn)
|
|
|
NM_001382391.1(CSPP1):c.3170C>A (p.Thr1057Asn)
|
|
|
NM_001382391.1(CSPP1):c.3220+7A>G
|
|
|
NM_001382391.1(CSPP1):c.3232G>C (p.Glu1078Gln)
|
|
|
NM_001382391.1(CSPP1):c.3253G>A (p.Asp1085Asn)
|
|
|
NM_001382391.1(CSPP1):c.3254A>G (p.Asp1085Gly)
|
|
|
NM_001382391.1(CSPP1):c.3283C>A (p.Pro1095Thr)
|
|
|
NM_001382391.1(CSPP1):c.3289G>A (p.Ala1097Thr)
|
|
|
NM_001382391.1(CSPP1):c.3289G>T (p.Ala1097Ser)
|
rs774501418
|
|
NM_001382391.1(CSPP1):c.3293G>A (p.Arg1098Gln)
|
|
|
NM_001382391.1(CSPP1):c.3328A>T (p.Ile1110Phe)
|
rs754193806
|
|
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His)
|
rs775362535
|
|
NM_001382391.1(CSPP1):c.3395T>C (p.Val1132Ala)
|
|
|
NM_001382391.1(CSPP1):c.3395_3397del (p.Val1132del)
|
rs749558548
|
|
NM_001382391.1(CSPP1):c.3398A>C (p.Asp1133Ala)
|
|
|
NM_001382391.1(CSPP1):c.3399T>A (p.Asp1133Glu)
|
|
|
NM_001382391.1(CSPP1):c.3400G>A (p.Glu1134Lys)
|
|
|
NM_001382391.1(CSPP1):c.3415A>G (p.Asn1139Asp)
|
rs1837019445
|
|
NM_001382391.1(CSPP1):c.3428T>C (p.Met1143Thr)
|
rs2129575962
|
|
NM_001382391.1(CSPP1):c.3437T>C (p.Leu1146Pro)
|
|
|
NM_001382391.1(CSPP1):c.3439A>C (p.Asn1147His)
|
|
|
NM_001382391.1(CSPP1):c.3452A>G (p.Asn1151Ser)
|
rs569956227
|
|
NM_001382391.1(CSPP1):c.3454A>G (p.Lys1152Glu)
|
|
|
NM_001382391.1(CSPP1):c.3455A>G (p.Lys1152Arg)
|
rs2129575980
|
|
NM_001382391.1(CSPP1):c.3472dup (p.Asp1158fs)
|
rs760082779
|
|
NM_001382391.1(CSPP1):c.3477_3479dup (p.Glu1159_Ser1160insArg)
|
|
|
NM_001382391.1(CSPP1):c.3478A>C (p.Ser1160Arg)
|
|
|
NM_001382391.1(CSPP1):c.3478_3479del (p.Ser1160fs)
|
rs2129576630
|
|
NM_001382391.1(CSPP1):c.3487G>A (p.Val1163Ile)
|
rs1414800888
|
|
NM_001382391.1(CSPP1):c.3496G>C (p.Asp1166His)
|
rs1837730212
|
|
NM_001382391.1(CSPP1):c.3509_3512dup (p.His1171fs)
|
rs776145236
|
|
NM_001382391.1(CSPP1):c.3518G>C (p.Gly1173Ala)
|
rs1837735009
|
|
NM_001382391.1(CSPP1):c.3525C>A (p.Asp1175Glu)
|
|
|
NM_001382391.1(CSPP1):c.3533_3536dup (p.Val1180fs)
|
rs1563816165
|
|
NM_001382391.1(CSPP1):c.3563C>T (p.Pro1188Leu)
|
|
|
NM_001382391.1(CSPP1):c.3569C>T (p.Thr1190Ile)
|
|
|
NM_001382391.1(CSPP1):c.3585dup (p.Arg1196fs)
|
|
|
NM_001382391.1(CSPP1):c.3598G>A (p.Glu1200Lys)
|
|
|
NM_001382391.1(CSPP1):c.3603G>C (p.Gln1201His)
|
rs1837760146
|
|
NM_001382391.1(CSPP1):c.3620A>G (p.Gln1207Arg)
|
rs1026132903
|
|
NM_001382391.1(CSPP1):c.3622C>T (p.Gln1208Ter)
|
|
|
NM_001382391.1(CSPP1):c.3640G>T (p.Gly1214Cys)
|
|
|
NM_001382391.1(CSPP1):c.3652T>C (p.Trp1218Arg)
|
|
|
NM_001382391.1(CSPP1):c.3652_3662del (p.Trp1218fs)
|
|
|
NM_001382391.1(CSPP1):c.3662T>C (p.Leu1221Pro)
|
|
|
NM_001382391.1(CSPP1):c.390G>T (p.Arg130Ser)
|
|
|
NM_001382391.1(CSPP1):c.403C>T (p.Arg135Cys)
|
|
|
NM_001382391.1(CSPP1):c.434G>A (p.Gly145Asp)
|
|
|
NM_001382391.1(CSPP1):c.436A>G (p.Lys146Glu)
|
|
|
NM_001382391.1(CSPP1):c.448A>G (p.Ser150Gly)
|
rs1554569071
|
|
NM_001382391.1(CSPP1):c.46T>G (p.Leu16Val)
|
rs150924296
|
|
NM_001382391.1(CSPP1):c.475A>G (p.Ser159Gly)
|
|
|
NM_001382391.1(CSPP1):c.483+6T>C
|
|
|
NM_001382391.1(CSPP1):c.508C>G (p.Pro170Ala)
|
rs2129545447
|
|
NM_001382391.1(CSPP1):c.513T>A (p.Ile171=)
|
rs1308150996
|
|
NM_001382391.1(CSPP1):c.554C>G (p.Ser185Cys)
|
rs1477078769
|
|
NM_001382391.1(CSPP1):c.572G>A (p.Gly191Asp)
|
rs2129545466
|
|
NM_001382391.1(CSPP1):c.577A>G (p.Arg193Gly)
|
|
|
NM_001382391.1(CSPP1):c.58A>C (p.Lys20Gln)
|
rs1807446261
|
|
NM_001382391.1(CSPP1):c.632G>A (p.Arg211Gln)
|
rs193231165
|
|
NM_001382391.1(CSPP1):c.635T>G (p.Leu212Arg)
|
|
|
NM_001382391.1(CSPP1):c.638A>G (p.Glu213Gly)
|
|
|
NM_001382391.1(CSPP1):c.663T>G (p.Asp221Glu)
|
|
|
NM_001382391.1(CSPP1):c.676T>A (p.Leu226Ile)
|
|
|
NM_001382391.1(CSPP1):c.692T>C (p.Ile231Thr)
|
|
|
NM_001382391.1(CSPP1):c.719G>A (p.Gly240Asp)
|
|
|
NM_001382391.1(CSPP1):c.727A>C (p.Asn243His)
|
rs777234205
|
|
NM_001382391.1(CSPP1):c.731T>G (p.Leu244Arg)
|
rs2129545496
|
|
NM_001382391.1(CSPP1):c.745T>C (p.Phe249Leu)
|
|
|
NM_001382391.1(CSPP1):c.757G>C (p.Ala253Pro)
|
rs771943937
|
|
NM_001382391.1(CSPP1):c.761G>A (p.Gly254Asp)
|
rs763959523
|
|
NM_001382391.1(CSPP1):c.767C>G (p.Pro256Arg)
|
rs2129545507
|
|
NM_001382391.1(CSPP1):c.769G>A (p.Asp257Asn)
|
rs750608589
|
|
NM_001382391.1(CSPP1):c.769G>T (p.Asp257Tyr)
|
rs750608589
|
|
NM_001382391.1(CSPP1):c.796G>A (p.Asp266Asn)
|
|
|
NM_001382391.1(CSPP1):c.797A>G (p.Asp266Gly)
|
rs1353287068
|
|
NM_001382391.1(CSPP1):c.803T>A (p.Val268Asp)
|
rs1812585066
|
|
NM_001382391.1(CSPP1):c.809A>T (p.Asp270Val)
|
rs1812585556
|
|
NM_001382391.1(CSPP1):c.818A>G (p.Tyr273Cys)
|
|
|
NM_001382391.1(CSPP1):c.843A>C (p.Glu281Asp)
|
|
|
NM_001382391.1(CSPP1):c.844G>T (p.Val282Leu)
|
rs1812594373
|
|
NM_001382391.1(CSPP1):c.870T>G (p.Phe290Leu)
|
rs1812598635
|
|
NM_001382391.1(CSPP1):c.873A>C (p.Arg291Ser)
|
|
|
NM_001382391.1(CSPP1):c.881G>C (p.Ser294Thr)
|
rs761539830
|
|
NM_001382391.1(CSPP1):c.896G>A (p.Arg299Lys)
|
rs1339310127
|
|
NM_001382391.1(CSPP1):c.89T>C (p.Met30Thr)
|
rs1807452107
|
|
NM_001382391.1(CSPP1):c.8A>C (p.Asp3Ala)
|
rs1585833752
|
|
NM_001382391.1(CSPP1):c.923G>A (p.Arg308Lys)
|
rs2129545557
|
|
NM_001382391.1(CSPP1):c.959T>C (p.Met320Thr)
|
|
|
NM_001382391.1(CSPP1):c.966_967delinsAA (p.His322_Asp323delinsGlnAsn)
|
|
|
NM_001382391.1(CSPP1):c.99+5A>G
|
|
|
NM_001382391.1(CSPP1):c.994A>G (p.Ile332Val)
|
rs1479905045
|
|
NM_001481.3(GAS8):c.1012-9T>C
|
rs1555651546
|
|
NM_001481.3(GAS8):c.1025G>C (p.Arg342Pro)
|
rs532241934
|
|
NM_001481.3(GAS8):c.1034T>G (p.Leu345Arg)
|
|
|
NM_001481.3(GAS8):c.1064A>T (p.Glu355Val)
|
|
|
NM_001481.3(GAS8):c.1082G>C (p.Gly361Ala)
|
|
|
NM_001481.3(GAS8):c.1172C>T (p.Ala391Val)
|
|
|
NM_001481.3(GAS8):c.1199C>T (p.Thr400Met)
|
|
|
NM_001481.3(GAS8):c.1201C>G (p.Leu401Val)
|
|
|
NM_001481.3(GAS8):c.1222-13T>G
|
|
|
NM_001481.3(GAS8):c.1244G>A (p.Ser415Asn)
|
|
|
NM_001481.3(GAS8):c.1279G>C (p.Val427Leu)
|
|
|
NM_001481.3(GAS8):c.1310C>A (p.Thr437Lys)
|
rs145191565
|
|
NM_001481.3(GAS8):c.1336G>A (p.Gly446Arg)
|
|
|
NM_001481.3(GAS8):c.137G>A (p.Arg46Gln)
|
|
|
NM_001481.3(GAS8):c.1388G>C (p.Gly463Ala)
|
|
|
NM_001481.3(GAS8):c.1390C>T (p.Gln464Ter)
|
|
|
NM_001481.3(GAS8):c.1409C>T (p.Pro470Leu)
|
|
|
NM_001481.3(GAS8):c.1412C>T (p.Ala471Val)
|
rs140194942
|
|
NM_001481.3(GAS8):c.1424G>T (p.Gly475Val)
|
rs1357817895
|
|
NM_001481.3(GAS8):c.160C>G (p.Leu54Val)
|
|
|
NM_001481.3(GAS8):c.17A>G (p.Lys6Arg)
|
|
|
NM_001481.3(GAS8):c.199C>T (p.Arg67Trp)
|
rs369186884
|
|
NM_001481.3(GAS8):c.1A>G (p.Met1Val)
|
rs1057484078
|
|
NM_001481.3(GAS8):c.1A>T (p.Met1Leu)
|
|
|
NM_001481.3(GAS8):c.206A>G (p.Gln69Arg)
|
rs778306447
|
|
NM_001481.3(GAS8):c.217AAG[1] (p.Lys74del)
|
rs775350365
|
|
NM_001481.3(GAS8):c.220_221delinsGC (p.Lys74Ala)
|
|
|
NM_001481.3(GAS8):c.232C>T (p.Arg78Trp)
|
|
|
NM_001481.3(GAS8):c.247G>A (p.Glu83Lys)
|
|
|
NM_001481.3(GAS8):c.258A>T (p.Glu86Asp)
|
rs2151282839
|
|
NM_001481.3(GAS8):c.270G>C (p.Arg90Ser)
|
|
|
NM_001481.3(GAS8):c.289G>A (p.Val97Met)
|
rs147133929
|
|
NM_001481.3(GAS8):c.289G>T (p.Val97Leu)
|
rs147133929
|
|
NM_001481.3(GAS8):c.331A>C (p.Asn111His)
|
|
|
NM_001481.3(GAS8):c.336C>G (p.Asn112Lys)
|
rs2151284701
|
|
NM_001481.3(GAS8):c.392_460del (p.His131_Glu153del)
|
|
|
NM_001481.3(GAS8):c.416G>A (p.Arg139His)
|
|
|
NM_001481.3(GAS8):c.460C>G (p.Leu154Val)
|
rs541006180
|
|
NM_001481.3(GAS8):c.466A>G (p.Ser156Gly)
|
rs771101764
|
|
NM_001481.3(GAS8):c.46C>G (p.Pro16Ala)
|
|
|
NM_001481.3(GAS8):c.523C>T (p.Arg175Trp)
|
|
|
NM_001481.3(GAS8):c.549A>T (p.Arg183=)
|
|
|
NM_001481.3(GAS8):c.551-16T>A
|
|
|
NM_001481.3(GAS8):c.551A>C (p.Glu184Ala)
|
rs201534876
|
|
NM_001481.3(GAS8):c.631G>C (p.Val211Leu)
|
rs756435150
|
|
NM_001481.3(GAS8):c.679G>A (p.Glu227Lys)
|
rs574664551
|
|
NM_001481.3(GAS8):c.715G>A (p.Asp239Asn)
|
|
|
NM_001481.3(GAS8):c.715G>T (p.Asp239Tyr)
|
|
|
NM_001481.3(GAS8):c.722C>T (p.Thr241Ile)
|
|
|
NM_001481.3(GAS8):c.751C>T (p.Leu251Phe)
|
|
|
NM_001481.3(GAS8):c.76A>C (p.Met26Leu)
|
rs142699309
|
|
NM_001481.3(GAS8):c.76A>G (p.Met26Val)
|
rs142699309
|
|
NM_001481.3(GAS8):c.809C>T (p.Ala270Val)
|
|
|
NM_001481.3(GAS8):c.81C>G (p.Ser27Arg)
|
rs2151276720
|
|
NM_001481.3(GAS8):c.847C>T (p.Leu283Phe)
|
|
|
NM_001481.3(GAS8):c.85G>A (p.Glu29Lys)
|
rs560531650
|
|
NM_001481.3(GAS8):c.909C>A (p.Asp303Glu)
|
rs2036932810
|
|
NM_001481.3(GAS8):c.911A>G (p.Lys304Arg)
|
|
|
NM_001481.3(GAS8):c.937C>A (p.Arg313Ser)
|
|
|
NM_001481.3(GAS8):c.938G>A (p.Arg313His)
|
|
|
NM_001481.3(GAS8):c.965A>G (p.Lys322Arg)
|
|
|
NM_002601.4(PDE6D):c.182G>A (p.Arg61Gln)
|
|
|
NM_002601.4(PDE6D):c.224G>A (p.Arg75His)
|
|
|
NM_002601.4(PDE6D):c.227T>C (p.Leu76Pro)
|
|
|
NM_002601.4(PDE6D):c.266-3C>T
|
rs2106260539
|
|
NM_002601.4(PDE6D):c.298A>G (p.Asn100Asp)
|
|
|
NM_002601.4(PDE6D):c.304A>C (p.Thr102Pro)
|
rs2106260506
|
|
NM_002601.4(PDE6D):c.30G>C (p.Glu10Asp)
|
|
|
NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile)
|
rs2048708941
|
|
NM_002601.4(PDE6D):c.328G>A (p.Glu110Lys)
|
rs1023549002
|
|
NM_002601.4(PDE6D):c.390A>T (p.Glu130Asp)
|
rs2106256926
|
|
NM_002601.4(PDE6D):c.40G>A (p.Gly14Ser)
|
rs1366113264
|
|
NM_002601.4(PDE6D):c.424A>G (p.Thr142Ala)
|
|
|
NM_002601.4(PDE6D):c.51A>C (p.Leu17=)
|
rs1328575509
|
|
NM_002601.4(PDE6D):c.67C>T (p.Arg23Trp)
|
rs570163390
|
|
NM_002601.4(PDE6D):c.68G>A (p.Arg23Gln)
|
|
|
NM_003114.5(SPAG1):c.1013G>T (p.Arg338Met)
|
rs2132289649
|
|
NM_003114.5(SPAG1):c.1017G>A (p.Met339Ile)
|
|
|
NM_003114.5(SPAG1):c.1047T>A (p.Asp349Glu)
|
|
|
NM_003114.5(SPAG1):c.105T>G (p.Asp35Glu)
|
rs759906925
|
|
NM_003114.5(SPAG1):c.1063G>A (p.Gly355Arg)
|
|
|
NM_003114.5(SPAG1):c.1115G>A (p.Gly372Glu)
|
|
|
NM_003114.5(SPAG1):c.1173C>T (p.Gly391=)
|
rs2132352087
|
|
NM_003114.5(SPAG1):c.1181A>G (p.Glu394Gly)
|
|
|
NM_003114.5(SPAG1):c.1189A>C (p.Lys397Gln)
|
rs1246342969
|
|
NM_003114.5(SPAG1):c.1229C>G (p.Pro410Arg)
|
rs971341609
|
|
NM_003114.5(SPAG1):c.1249C>G (p.Arg417Gly)
|
rs1464845313
|
|
NM_003114.5(SPAG1):c.1252A>G (p.Ser418Gly)
|
rs1817812342
|
|
NM_003114.5(SPAG1):c.1259G>C (p.Arg420Pro)
|
|
|
NM_003114.5(SPAG1):c.126T>G (p.Ile42Met)
|
|
|
NM_003114.5(SPAG1):c.1271C>G (p.Ala424Gly)
|
rs1586496414
|
|
NM_003114.5(SPAG1):c.1271C>T (p.Ala424Val)
|
|
|
NM_003114.5(SPAG1):c.1271CGG[6] (p.Ala428dup)
|
rs962670800
|
|
NM_003114.5(SPAG1):c.1293_1316del (p.Ala432_Gly439del)
|
rs781380303
|
|
NM_003114.5(SPAG1):c.1307C>A (p.Pro436Gln)
|
rs761617724
|
|
NM_003114.5(SPAG1):c.1332C>A (p.Asn444Lys)
|
|
|
NM_003114.5(SPAG1):c.1350C>G (p.Ser450Arg)
|
|
|
NM_003114.5(SPAG1):c.1364T>G (p.Leu455Arg)
|
|
|
NM_003114.5(SPAG1):c.1399A>G (p.Lys467Glu)
|
|
|
NM_003114.5(SPAG1):c.1436-5T>G
|
|
|
NM_003114.5(SPAG1):c.1464C>T (p.Ile488=)
|
|
|
NM_003114.5(SPAG1):c.1467A>C (p.Leu489Phe)
|
rs977950141
|
|
NM_003114.5(SPAG1):c.1478G>C (p.Arg493Thr)
|
|
|
NM_003114.5(SPAG1):c.1510A>G (p.Ser504Gly)
|
|
|
NM_003114.5(SPAG1):c.1536-10_1536-9delinsCG
|
rs2132386928
|
|
NM_003114.5(SPAG1):c.1561A>G (p.Met521Val)
|
rs745418167
|
|
NM_003114.5(SPAG1):c.1565A>C (p.Lys522Thr)
|
|
|
NM_003114.5(SPAG1):c.16T>C (p.Tyr6His)
|
|
|
NM_003114.5(SPAG1):c.1790C>T (p.Pro597Leu)
|
|
|
NM_003114.5(SPAG1):c.1841A>C (p.Gln614Pro)
|
rs912740405
|
|
NM_003114.5(SPAG1):c.1960A>G (p.Asn654Asp)
|
rs1818756163
|
|
NM_003114.5(SPAG1):c.1961A>G (p.Asn654Ser)
|
rs763758961
|
|
NM_003114.5(SPAG1):c.1985A>C (p.Asn662Thr)
|
|
|
NM_003114.5(SPAG1):c.2104A>G (p.Lys702Glu)
|
|
|
NM_003114.5(SPAG1):c.2133A>C (p.Leu711Phe)
|
|
|
NM_003114.5(SPAG1):c.2144A>G (p.Asn715Ser)
|
rs771009402
|
|
NM_003114.5(SPAG1):c.2189A>C (p.Glu730Ala)
|
rs1479365252
|
|
NM_003114.5(SPAG1):c.2194G>A (p.Glu732Lys)
|
rs2132443145
|
|
NM_003114.5(SPAG1):c.2204C>T (p.Thr735Ile)
|
rs1819149329
|
|
NM_003114.5(SPAG1):c.2224G>A (p.Asp742Asn)
|
rs754229235
|
|
NM_003114.5(SPAG1):c.2224G>T (p.Asp742Tyr)
|
|
|
NM_003114.5(SPAG1):c.2256G>C (p.Glu752Asp)
|
rs1478952612
|
|
NM_003114.5(SPAG1):c.2330_2331inv (p.Met777Thr)
|
|
|
NM_003114.5(SPAG1):c.2339T>C (p.Leu780Pro)
|
rs755897469
|
|
NM_003114.5(SPAG1):c.2341G>C (p.Ala781Pro)
|
rs2132446476
|
|
NM_003114.5(SPAG1):c.2386G>A (p.Glu796Lys)
|
rs751735079
|
|
NM_003114.5(SPAG1):c.2392C>T (p.Leu798Phe)
|
rs1819213979
|
|
NM_003114.5(SPAG1):c.2419T>C (p.Tyr807His)
|
rs1204341591
|
|
NM_003114.5(SPAG1):c.2446C>G (p.Leu816Val)
|
|
|
NM_003114.5(SPAG1):c.2446C>T (p.Leu816Phe)
|
rs1221177130
|
|
NM_003114.5(SPAG1):c.2505A>T (p.Lys835Asn)
|
rs1177759013
|
|
NM_003114.5(SPAG1):c.2512C>T (p.Pro838Ser)
|
rs1563820253
|
|
NM_003114.5(SPAG1):c.2557C>T (p.Leu853Phe)
|
rs1563820362
|
|
NM_003114.5(SPAG1):c.2561T>C (p.Ile854Thr)
|
rs2132447595
|
|
NM_003114.5(SPAG1):c.2623T>C (p.Tyr875His)
|
rs1161354171
|
|
NM_003114.5(SPAG1):c.2690T>C (p.Ile897Thr)
|
|
|
NM_003114.5(SPAG1):c.2726del (p.Asn909fs)
|
rs777302538
|
|
NM_003114.5(SPAG1):c.2728A>C (p.Asn910His)
|
rs1054502421
|
|
NM_003114.5(SPAG1):c.290G>A (p.Gly97Asp)
|
rs1175188961
|
|
NM_003114.5(SPAG1):c.295A>G (p.Ile99Val)
|
|
|
NM_003114.5(SPAG1):c.324AGA[2] (p.Glu110del)
|
rs1256907229
|
|
NM_003114.5(SPAG1):c.422G>A (p.Gly141Asp)
|
rs1345807674
|
|
NM_003114.5(SPAG1):c.513A>C (p.Leu171Phe)
|
|
|
NM_003114.5(SPAG1):c.520G>A (p.Asp174Asn)
|
rs1277584118
|
|
NM_003114.5(SPAG1):c.542C>T (p.Thr181Met)
|
|
|
NM_003114.5(SPAG1):c.740A>G (p.Asn247Ser)
|
|
|
NM_003114.5(SPAG1):c.798A>C (p.Glu266Asp)
|
rs139329487
|
|
NM_003114.5(SPAG1):c.801G>T (p.Lys267Asn)
|
|
|
NM_003114.5(SPAG1):c.826G>A (p.Val276Ile)
|
|
|
NM_003114.5(SPAG1):c.832+5A>G
|
|
|
NM_003114.5(SPAG1):c.841C>T (p.Arg281Cys)
|
|
|
NM_003114.5(SPAG1):c.878G>A (p.Arg293Gln)
|
rs750321216
|
|
NM_003114.5(SPAG1):c.88A>G (p.Ile30Val)
|
|
|
NM_003611.2(OFD1):c.(?_-1)_(*1_?)dup
|
|
|
NM_003611.2(OFD1):c.-359-?_*253+?dup
|
|
|
NM_003611.3(OFD1):c.1005A>G (p.Ile335Met)
|
|
|
NM_003611.3(OFD1):c.1007dup (p.Ser337fs)
|
rs749448671
|
|
NM_003611.3(OFD1):c.1030C>G (p.Arg344Gly)
|
rs758903488
|
|
NM_003611.3(OFD1):c.1033A>C (p.Lys345Gln)
|
|
|
NM_003611.3(OFD1):c.1055A>C (p.Lys352Thr)
|
|
|
NM_003611.3(OFD1):c.1055A>G (p.Lys352Arg)
|
rs779494159
|
|
NM_003611.3(OFD1):c.1056-3C>G
|
|
|
NM_003611.3(OFD1):c.1066G>C (p.Glu356Gln)
|
|
|
NM_003611.3(OFD1):c.1073A>G (p.Lys358Arg)
|
|
|
NM_003611.3(OFD1):c.1086C>G (p.Ile362Met)
|
|
|
NM_003611.3(OFD1):c.109A>G (p.Lys37Glu)
|
rs2146904853
|
|
NM_003611.3(OFD1):c.1100G>C (p.Arg367Pro)
|
|
|
NM_003611.3(OFD1):c.111+6G>A
|
|
|
NM_003611.3(OFD1):c.1141C>A (p.His381Asn)
|
|
|
NM_003611.3(OFD1):c.1141C>G (p.His381Asp)
|
|
|
NM_003611.3(OFD1):c.1155G>T (p.Glu385Asp)
|
rs2147016302
|
|
NM_003611.3(OFD1):c.1172C>T (p.Ser391Leu)
|
|
|
NM_003611.3(OFD1):c.1190A>G (p.Asn397Ser)
|
|
|
NM_003611.3(OFD1):c.1196C>G (p.Ser399Cys)
|
|
|
NM_003611.3(OFD1):c.1237G>T (p.Val413Phe)
|
rs2147026202
|
|
NM_003611.3(OFD1):c.1258A>G (p.Ile420Val)
|
|
|
NM_003611.3(OFD1):c.1262C>G (p.Thr421Arg)
|
|
|
NM_003611.3(OFD1):c.1277T>C (p.Met426Thr)
|
rs1602883262
|
|
NM_003611.3(OFD1):c.1280T>C (p.Leu427Pro)
|
|
|
NM_003611.3(OFD1):c.1291G>T (p.Val431Phe)
|
|
|
NM_003611.3(OFD1):c.1300A>G (p.Met434Val)
|
|
|
NM_003611.3(OFD1):c.1306G>C (p.Asp436His)
|
|
|
NM_003611.3(OFD1):c.135T>G (p.Ile45Met)
|
|
|
NM_003611.3(OFD1):c.1385G>A (p.Arg462Lys)
|
rs2147026919
|
|
NM_003611.3(OFD1):c.1395C>G (p.Asn465Lys)
|
|
|
NM_003611.3(OFD1):c.1397T>C (p.Leu466Pro)
|
|
|
NM_003611.3(OFD1):c.1399C>A (p.Arg467Ser)
|
rs140561107
|
|
NM_003611.3(OFD1):c.1412G>C (p.Arg471Pro)
|
|
|
NM_003611.3(OFD1):c.1421A>C (p.Gln474Pro)
|
|
|
NM_003611.3(OFD1):c.1444T>C (p.Phe482Leu)
|
|
|
NM_003611.3(OFD1):c.1459C>T (p.Arg487Trp)
|
|
|
NM_003611.3(OFD1):c.145A>T (p.Met49Leu)
|
|
|
NM_003611.3(OFD1):c.1477A>G (p.Ile493Val)
|
|
|
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr)
|
rs2147032761
|
|
NM_003611.3(OFD1):c.148C>T (p.His50Tyr)
|
|
|
NM_003611.3(OFD1):c.1502A>C (p.Glu501Ala)
|
rs2147032914
|
|
NM_003611.3(OFD1):c.1517C>G (p.Ala506Gly)
|
|
|
NM_003611.3(OFD1):c.1522C>T (p.His508Tyr)
|
|
|
NM_003611.3(OFD1):c.1543-10A>G
|
|
|
NM_003611.3(OFD1):c.1544T>G (p.Ile515Ser)
|
|
|
NM_003611.3(OFD1):c.1574T>A (p.Ile525Asn)
|
|
|
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly)
|
rs2047794483
|
|
NM_003611.3(OFD1):c.1600A>G (p.Ser534Gly)
|
|
|
NM_003611.3(OFD1):c.1621G>A (p.Asp541Asn)
|
|
|
NM_003611.3(OFD1):c.1622A>G (p.Asp541Gly)
|
rs369907952
|
|
NM_003611.3(OFD1):c.1636C>G (p.Leu546Val)
|
rs2147036654
|
|
NM_003611.3(OFD1):c.1652C>G (p.Thr551Arg)
|
|
|
NM_003611.3(OFD1):c.1668A>C (p.Glu556Asp)
|
|
|
NM_003611.3(OFD1):c.16A>G (p.Asn6Asp)
|
|
|
NM_003611.3(OFD1):c.1712A>G (p.Asn571Ser)
|
|
|
NM_003611.3(OFD1):c.1732GTG[3] (p.Val579_Pro580insVal)
|
|
|
NM_003611.3(OFD1):c.1738C>T (p.Pro580Ser)
|
rs2047873725
|
|
NM_003611.3(OFD1):c.1743C>G (p.Cys581Trp)
|
|
|
NM_003611.3(OFD1):c.1760G>A (p.Gly587Glu)
|
|
|
NM_003611.3(OFD1):c.1784A>G (p.Lys595Arg)
|
|
|
NM_003611.3(OFD1):c.178C>A (p.Arg60=)
|
|
|
NM_003611.3(OFD1):c.178C>T (p.Arg60Trp)
|
|
|
NM_003611.3(OFD1):c.1793A>G (p.Asn598Ser)
|
rs2147047869
|
|
NM_003611.3(OFD1):c.1795G>A (p.Val599Ile)
|
|
|
NM_003611.3(OFD1):c.17A>G (p.Asn6Ser)
|
|
|
NM_003611.3(OFD1):c.1809G>T (p.Met603Ile)
|
|
|
NM_003611.3(OFD1):c.1829A>G (p.Asn610Ser)
|
rs373706613
|
|
NM_003611.3(OFD1):c.1859C>A (p.Ser620Tyr)
|
|
|
NM_003611.3(OFD1):c.1859C>T (p.Ser620Phe)
|
|
|
NM_003611.3(OFD1):c.1879T>C (p.Phe627Leu)
|
|
|
NM_003611.3(OFD1):c.1892C>G (p.Thr631Ser)
|
|
|
NM_003611.3(OFD1):c.1894A>G (p.Lys632Glu)
|
|
|
NM_003611.3(OFD1):c.1898C>G (p.Ala633Gly)
|
rs1367636282
|
|
NM_003611.3(OFD1):c.1942G>T (p.Ala648Ser)
|
|
|
NM_003611.3(OFD1):c.1943C>T (p.Ala648Val)
|
|
|
NM_003611.3(OFD1):c.1994T>C (p.Leu665Pro)
|
rs769788132
|
|
NM_003611.3(OFD1):c.2009C>T (p.Pro670Leu)
|
|
|
NM_003611.3(OFD1):c.2011C>T (p.Pro671Ser)
|
|
|
NM_003611.3(OFD1):c.2046T>G (p.Ile682Met)
|
|
|
NM_003611.3(OFD1):c.2071A>G (p.Ile691Val)
|
rs2147049159
|
|
NM_003611.3(OFD1):c.2082G>C (p.Glu694Asp)
|
|
|
NM_003611.3(OFD1):c.2129G>C (p.Arg710Thr)
|
rs2147049470
|
|
NM_003611.3(OFD1):c.2152A>G (p.Thr718Ala)
|
|
|
NM_003611.3(OFD1):c.2171G>A (p.Arg724Lys)
|
|
|
NM_003611.3(OFD1):c.2182G>A (p.Gly728Ser)
|
|
|
NM_003611.3(OFD1):c.2210C>A (p.Thr737Lys)
|
rs747090131
|
|
NM_003611.3(OFD1):c.2227A>G (p.Lys743Glu)
|
|
|
NM_003611.3(OFD1):c.2233A>C (p.Ser745Arg)
|
|
|
NM_003611.3(OFD1):c.2236C>T (p.Leu746Phe)
|
|
|
NM_003611.3(OFD1):c.2270G>C (p.Arg757Thr)
|
|
|
NM_003611.3(OFD1):c.227C>T (p.Ser76Phe)
|
rs1569102409
|
|
NM_003611.3(OFD1):c.2290A>C (p.Ser764Arg)
|
|
|
NM_003611.3(OFD1):c.2308A>G (p.Met770Val)
|
|
|
NM_003611.3(OFD1):c.2332T>G (p.Ser778Ala)
|
|
|
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
|
|
|
NM_003611.3(OFD1):c.2348C>G (p.Ser783Cys)
|
|
|
NM_003611.3(OFD1):c.2351_2365dup (p.Ser788_Ser789insIleProProValSer)
|
|
|
NM_003611.3(OFD1):c.2362T>A (p.Ser788Thr)
|
|
|
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)
|
|
|
NM_003611.3(OFD1):c.2381A>G (p.Lys794Arg)
|
|
|
NM_003611.3(OFD1):c.2384T>C (p.Val795Ala)
|
|
|
NM_003611.3(OFD1):c.2386G>T (p.Gly796Cys)
|
|
|
NM_003611.3(OFD1):c.2396G>A (p.Arg799Gln)
|
|
|
NM_003611.3(OFD1):c.2414A>G (p.Gln805Arg)
|
|
|
NM_003611.3(OFD1):c.2420A>G (p.Lys807Arg)
|
|
|
NM_003611.3(OFD1):c.2423G>A (p.Ser808Asn)
|
|
|
NM_003611.3(OFD1):c.2450C>T (p.Ala817Val)
|
|
|
NM_003611.3(OFD1):c.2464GAG[1] (p.Glu823del)
|
rs771984968
|
|
NM_003611.3(OFD1):c.2465A>G (p.Glu822Gly)
|
|
|
NM_003611.3(OFD1):c.2489-15T>G
|
rs2147066461
|
|
NM_003611.3(OFD1):c.2489-16A>G
|
|
|
NM_003611.3(OFD1):c.2502G>A (p.Met834Ile)
|
|
|
NM_003611.3(OFD1):c.2510A>C (p.Gln837Pro)
|
|
|
NM_003611.3(OFD1):c.2519T>C (p.Met840Thr)
|
|
|
NM_003611.3(OFD1):c.2542G>A (p.Asp848Asn)
|
|
|
NM_003611.3(OFD1):c.2543A>G (p.Asp848Gly)
|
|
|
NM_003611.3(OFD1):c.2546T>G (p.Met849Arg)
|
|
|
NM_003611.3(OFD1):c.2560G>A (p.Ala854Thr)
|
|
|
NM_003611.3(OFD1):c.2567C>T (p.Ala856Val)
|
|
|
NM_003611.3(OFD1):c.257G>A (p.Gly86Asp)
|
rs2046878445
|
|
NM_003611.3(OFD1):c.2588A>G (p.Tyr863Cys)
|
|
|
NM_003611.3(OFD1):c.2592G>T (p.Gln864His)
|
rs2147067144
|
|
NM_003611.3(OFD1):c.2596C>A (p.Pro866Thr)
|
|
|
NM_003611.3(OFD1):c.2599+4A>C
|
|
|
NM_003611.3(OFD1):c.2599+5del
|
|
|
NM_003611.3(OFD1):c.2609A>G (p.Gln870Arg)
|
|
|
NM_003611.3(OFD1):c.262_273del (p.Glu88_Leu91del)
|
|
|
NM_003611.3(OFD1):c.2632GAA[2] (p.Glu880del)
|
|
|
NM_003611.3(OFD1):c.2645T>C (p.Ile882Thr)
|
|
|
NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp)
|
|
|
NM_003611.3(OFD1):c.2648G>A (p.Arg883Gln)
|
|
|
NM_003611.3(OFD1):c.2669G>A (p.Arg890Gln)
|
|
|
NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys)
|
|
|
NM_003611.3(OFD1):c.268T>G (p.Ser90Ala)
|
|
|
NM_003611.3(OFD1):c.2694G>C (p.Gln898His)
|
rs2048163178
|
|
NM_003611.3(OFD1):c.26C>T (p.Thr9Ile)
|
rs1555900190
|
|
NM_003611.3(OFD1):c.2705A>G (p.Gln902Arg)
|
|
|
NM_003611.3(OFD1):c.2708A>G (p.Glu903Gly)
|
|
|
NM_003611.3(OFD1):c.2719A>G (p.Arg907Gly)
|
rs1569163323
|
|
NM_003611.3(OFD1):c.2747A>G (p.Tyr916Cys)
|
|
|
NM_003611.3(OFD1):c.2757+17G>C
|
|
|
NM_003611.3(OFD1):c.2757+4dup
|
rs2048165387
|
|
NM_003611.3(OFD1):c.2757G>A (p.Arg919=)
|
rs2048165288
|
|
NM_003611.3(OFD1):c.275C>T (p.Ser92Phe)
|
|
|
NM_003611.3(OFD1):c.276T>A (p.Ser92=)
|
rs201675886
|
|
NM_003611.3(OFD1):c.2780A>T (p.Lys927Met)
|
|
|
NM_003611.3(OFD1):c.2841A>G (p.Ile947Met)
|
rs2048202271
|
|
NM_003611.3(OFD1):c.2849A>C (p.Lys950Thr)
|
|
|
NM_003611.3(OFD1):c.2855C>T (p.Ala952Val)
|
|
|
NM_003611.3(OFD1):c.2867A>G (p.Asn956Ser)
|
|
|
NM_003611.3(OFD1):c.2873T>C (p.Leu958Ser)
|
rs2147086332
|
|
NM_003611.3(OFD1):c.2884A>G (p.Met962Val)
|
|
|
NM_003611.3(OFD1):c.2893A>C (p.Ile965Leu)
|
|
|
NM_003611.3(OFD1):c.28G>T (p.Val10Leu)
|
|
|
NM_003611.3(OFD1):c.2904_2906dup (p.Gln969_Asp970insGln)
|
|
|
NM_003611.3(OFD1):c.2908G>A (p.Asp970Asn)
|
|
|
NM_003611.3(OFD1):c.2911C>G (p.Gln971Glu)
|
rs1274499805
|
|
NM_003611.3(OFD1):c.2923G>C (p.Asp975His)
|
|
|
NM_003611.3(OFD1):c.2924_2928+62inv
|
|
|
NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn)
|
|
|
NM_003611.3(OFD1):c.2969C>G (p.Thr990Arg)
|
|
|
NM_003611.3(OFD1):c.2969C>T (p.Thr990Met)
|
|
|
NM_003611.3(OFD1):c.296G>A (p.Gly99Asp)
|
|
|
NM_003611.3(OFD1):c.2992G>C (p.Glu998Gln)
|
|
|
NM_003611.3(OFD1):c.2996+5C>T
|
|
|
NM_003611.3(OFD1):c.2997-6A>G
|
rs2048246741
|
|
NM_003611.3(OFD1):c.29T>C (p.Val10Ala)
|
rs2046814185
|
|
NM_003611.3(OFD1):c.3002C>T (p.Thr1001Ile)
|
|
|
NM_003611.3(OFD1):c.3011C>G (p.Ser1004Cys)
|
rs1060500182
|
|
NM_003611.3(OFD1):c.304A>G (p.Lys102Glu)
|
|
|
NM_003611.3(OFD1):c.34G>T (p.Asp12Tyr)
|
|
|
NM_003611.3(OFD1):c.358A>G (p.Thr120Ala)
|
|
|
NM_003611.3(OFD1):c.373A>C (p.Lys125Gln)
|
rs2146928358
|
|
NM_003611.3(OFD1):c.382-10_382-6del
|
|
|
NM_003611.3(OFD1):c.382G>A (p.Val128Ile)
|
rs766600036
|
|
NM_003611.3(OFD1):c.388G>C (p.Gly130Arg)
|
rs2146928806
|
|
NM_003611.3(OFD1):c.389G>T (p.Gly130Val)
|
|
|
NM_003611.3(OFD1):c.422T>C (p.Met141Thr)
|
|
|
NM_003611.3(OFD1):c.43A>G (p.Ser15Gly)
|
|
|
NM_003611.3(OFD1):c.450TCA[1] (p.His151del)
|
rs1569117650
|
|
NM_003611.3(OFD1):c.453T>G (p.His151Gln)
|
|
|
NM_003611.3(OFD1):c.491G>A (p.Ser164Asn)
|
|
|
NM_003611.3(OFD1):c.497C>A (p.Thr166Lys)
|
|
|
NM_003611.3(OFD1):c.4A>G (p.Met2Val)
|
|
|
NM_003611.3(OFD1):c.503A>G (p.Asn168Ser)
|
|
|
NM_003611.3(OFD1):c.505A>G (p.Arg169Gly)
|
|
|
NM_003611.3(OFD1):c.512C>A (p.Ser171Tyr)
|
|
|
NM_003611.3(OFD1):c.550G>A (p.Ala184Thr)
|
|
|
NM_003611.3(OFD1):c.556G>C (p.Ala186Pro)
|
rs1161161896
|
|
NM_003611.3(OFD1):c.568C>T (p.Arg190Cys)
|
rs962377226
|
|
NM_003611.3(OFD1):c.571A>G (p.Ile191Val)
|
|
|
NM_003611.3(OFD1):c.579C>G (p.Phe193Leu)
|
|
|
NM_003611.3(OFD1):c.59G>A (p.Arg20His)
|
rs2146904622
|
|
NM_003611.3(OFD1):c.602A>G (p.Asn201Ser)
|
|
|
NM_003611.3(OFD1):c.610A>G (p.Lys204Glu)
|
rs1060500183
|
|
NM_003611.3(OFD1):c.61A>G (p.Lys21Glu)
|
|
|
NM_003611.3(OFD1):c.620_622dup (p.Ile207_Glu208insVal)
|
rs2146968142
|
|
NM_003611.3(OFD1):c.634C>G (p.Arg212Gly)
|
rs776834508
|
|
NM_003611.3(OFD1):c.655-6T>A
|
|
|
NM_003611.3(OFD1):c.672T>G (p.Asp224Glu)
|
|
|
NM_003611.3(OFD1):c.675C>T (p.Thr225=)
|
|
|
NM_003611.3(OFD1):c.713A>G (p.Tyr238Cys)
|
|
|
NM_003611.3(OFD1):c.762A>C (p.Gln254His)
|
|
|
NM_003611.3(OFD1):c.790G>C (p.Glu264Gln)
|
|
|
NM_003611.3(OFD1):c.7G>T (p.Ala3Ser)
|
|
|
NM_003611.3(OFD1):c.800C>T (p.Thr267Ile)
|
|
|
NM_003611.3(OFD1):c.822C>G (p.His274Gln)
|
|
|
NM_003611.3(OFD1):c.829-16A>G
|
rs886658439
|
|
NM_003611.3(OFD1):c.843A>C (p.Glu281Asp)
|
|
|
NM_003611.3(OFD1):c.845T>C (p.Ile282Thr)
|
|
|
NM_003611.3(OFD1):c.877A>T (p.Met293Leu)
|
|
|
NM_003611.3(OFD1):c.878T>C (p.Met293Thr)
|
|
|
NM_003611.3(OFD1):c.89G>A (p.Arg30Gln)
|
rs1060500185
|
|
NM_003611.3(OFD1):c.916A>G (p.Arg306Gly)
|
rs2047424420
|
|
NM_003611.3(OFD1):c.920T>G (p.Val307Gly)
|
|
|
NM_003611.3(OFD1):c.94A>G (p.Ile32Val)
|
rs367927336
|
|
NM_003611.3(OFD1):c.956A>C (p.Glu319Ala)
|
|
|
NM_003611.3(OFD1):c.959A>C (p.Lys320Thr)
|
rs2146992341
|
|
NM_003611.3(OFD1):c.962A>G (p.His321Arg)
|
|
|
NM_003611.3(OFD1):c.967del (p.Ser323fs)
|
rs780268478
|
|
NM_003611.3(OFD1):c.971T>C (p.Ile324Thr)
|
|
|
NM_003611.3(OFD1):c.974C>T (p.Thr325Ile)
|
|
|
NM_003611.3(OFD1):c.975_976del (p.Glu326fs)
|
|
|
NM_006642.5(SDCCAG8):c.1027G>A (p.Val343Ile)
|
rs760942783
|
|
NM_006642.5(SDCCAG8):c.103G>T (p.Ala35Ser)
|
|
|
NM_006642.5(SDCCAG8):c.1053T>C (p.Asn351=)
|
|
|
NM_006642.5(SDCCAG8):c.1062A>C (p.Lys354Asn)
|
|
|
NM_006642.5(SDCCAG8):c.1069-3C>T
|
|
|
NM_006642.5(SDCCAG8):c.1079A>C (p.Gln360Pro)
|
|
|
NM_006642.5(SDCCAG8):c.1109G>T (p.Arg370Met)
|
rs1471866292
|
|
NM_006642.5(SDCCAG8):c.1117G>A (p.Glu373Lys)
|
|
|
NM_006642.5(SDCCAG8):c.1151A>G (p.Glu384Gly)
|
rs2074516888
|
|
NM_006642.5(SDCCAG8):c.1158G>C (p.Arg386Ser)
|
|
|
NM_006642.5(SDCCAG8):c.1171G>A (p.Asp391Asn)
|
rs2149349477
|
|
NM_006642.5(SDCCAG8):c.1176G>A (p.Met392Ile)
|
|
|
NM_006642.5(SDCCAG8):c.1178T>A (p.Met393Lys)
|
|
|
NM_006642.5(SDCCAG8):c.1186G>A (p.Glu396Lys)
|
|
|
NM_006642.5(SDCCAG8):c.118G>A (p.Asp40Asn)
|
|
|
NM_006642.5(SDCCAG8):c.1193C>T (p.Thr398Met)
|
|
|
NM_006642.5(SDCCAG8):c.11C>G (p.Ser4Cys)
|
|
|
NM_006642.5(SDCCAG8):c.1221+4C>G
|
|
|
NM_006642.5(SDCCAG8):c.122T>C (p.Val41Ala)
|
rs2067972241
|
|
NM_006642.5(SDCCAG8):c.1234T>A (p.Ser412Thr)
|
|
|
NM_006642.5(SDCCAG8):c.1244T>C (p.Ile415Thr)
|
|
|
NM_006642.5(SDCCAG8):c.124A>G (p.Thr42Ala)
|
|
|
NM_006642.5(SDCCAG8):c.1273G>A (p.Val425Ile)
|
rs370072966
|
|
NM_006642.5(SDCCAG8):c.1273G>T (p.Val425Phe)
|
rs370072966
|
|
NM_006642.5(SDCCAG8):c.1283A>G (p.Glu428Gly)
|
rs1364309751
|
|
NM_006642.5(SDCCAG8):c.1301A>T (p.Asn434Ile)
|
|
|
NM_006642.5(SDCCAG8):c.1306C>G (p.Leu436Val)
|
|
|
NM_006642.5(SDCCAG8):c.1309G>C (p.Glu437Gln)
|
|
|
NM_006642.5(SDCCAG8):c.1343T>G (p.Met448Arg)
|
rs1015302300
|
|
NM_006642.5(SDCCAG8):c.1356G>A (p.Lys452=)
|
rs1057515483
|
|
NM_006642.5(SDCCAG8):c.1358T>C (p.Val453Ala)
|
|
|
NM_006642.5(SDCCAG8):c.1360T>C (p.Cys454Arg)
|
|
|
NM_006642.5(SDCCAG8):c.136G>C (p.Asp46His)
|
rs2067972892
|
|
NM_006642.5(SDCCAG8):c.1370T>A (p.Met457Lys)
|
rs1250974056
|
|
NM_006642.5(SDCCAG8):c.1397T>G (p.Met466Arg)
|
rs2147791053
|
|
NM_006642.5(SDCCAG8):c.1411G>A (p.Ala471Thr)
|
rs775752533
|
|
NM_006642.5(SDCCAG8):c.1420G>A (p.Glu474Lys)
|
rs2075566223
|
|
NM_006642.5(SDCCAG8):c.1421A>C (p.Glu474Ala)
|
|
|
NM_006642.5(SDCCAG8):c.1426A>G (p.Arg476Gly)
|
rs2147791136
|
|
NM_006642.5(SDCCAG8):c.1439C>A (p.Ala480Glu)
|
|
|
NM_006642.5(SDCCAG8):c.1452G>C (p.Arg484Ser)
|
|
|
NM_006642.5(SDCCAG8):c.1498C>A (p.Leu500Met)
|
|
|
NM_006642.5(SDCCAG8):c.1519T>G (p.Leu507Val)
|
rs1558382581
|
|
NM_006642.5(SDCCAG8):c.152C>T (p.Ser51Phe)
|
rs2067973932
|
|
NM_006642.5(SDCCAG8):c.1574C>A (p.Thr525Lys)
|
rs999154575
|
|
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)
|
rs753709808
|
|
NM_006642.5(SDCCAG8):c.1610T>G (p.Leu537Arg)
|
rs1032332223
|
|
NM_006642.5(SDCCAG8):c.1646T>C (p.Phe549Ser)
|
rs2080530513
|
|
NM_006642.5(SDCCAG8):c.1691A>G (p.Glu564Gly)
|
|
|
NM_006642.5(SDCCAG8):c.1696G>A (p.Glu566Lys)
|
|
|
NM_006642.5(SDCCAG8):c.1699C>G (p.Leu567Val)
|
|
|
NM_006642.5(SDCCAG8):c.169G>A (p.Gly57Arg)
|
rs2067975157
|
|
NM_006642.5(SDCCAG8):c.16G>C (p.Glu6Gln)
|
rs1201744229
|
|
NM_006642.5(SDCCAG8):c.1727C>T (p.Ala576Val)
|
rs766677544
|
|
NM_006642.5(SDCCAG8):c.1756T>A (p.Tyr586Asn)
|
|
|
NM_006642.5(SDCCAG8):c.1764G>A (p.Leu588=)
|
|
|
NM_006642.5(SDCCAG8):c.1769C>A (p.Thr590Asn)
|
rs2148018533
|
|
NM_006642.5(SDCCAG8):c.181G>A (p.Ala61Thr)
|
|
|
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser)
|
rs149928402
|
|
NM_006642.5(SDCCAG8):c.182C>A (p.Ala61Asp)
|
|
|
NM_006642.5(SDCCAG8):c.1837A>G (p.Ile613Val)
|
rs2148018705
|
|
NM_006642.5(SDCCAG8):c.1854A>G (p.Arg618=)
|
|
|
NM_006642.5(SDCCAG8):c.1886G>T (p.Arg629Met)
|
rs548855151
|
|
NM_006642.5(SDCCAG8):c.191C>T (p.Ala64Val)
|
|
|
NM_006642.5(SDCCAG8):c.1931A>G (p.Glu644Gly)
|
|
|
NM_006642.5(SDCCAG8):c.1933T>A (p.Leu645Met)
|
|
|
NM_006642.5(SDCCAG8):c.1944G>C (p.Gln648His)
|
rs2148043381
|
|
NM_006642.5(SDCCAG8):c.1966C>A (p.His656Asn)
|
rs1262692904
|
|
NM_006642.5(SDCCAG8):c.1967A>G (p.His656Arg)
|
|
|
NM_006642.5(SDCCAG8):c.1984A>G (p.Arg662Gly)
|
|
|
NM_006642.5(SDCCAG8):c.1992_2009dup (p.His669_Ser670insArgGlnLeuAspLysHis)
|
rs2148266803
|
|
NM_006642.5(SDCCAG8):c.2021C>T (p.Ala674Val)
|
|
|
NM_006642.5(SDCCAG8):c.2053A>T (p.Asn685Tyr)
|
rs2148267056
|
|
NM_006642.5(SDCCAG8):c.2078G>A (p.Ser693Asn)
|
|
|
NM_006642.5(SDCCAG8):c.2091G>T (p.Glu697Asp)
|
|
|
NM_006642.5(SDCCAG8):c.2098C>T (p.Arg700Trp)
|
rs369591883
|
|
NM_006642.5(SDCCAG8):c.209A>C (p.Gln70Pro)
|
|
|
NM_006642.5(SDCCAG8):c.2104C>T (p.Arg702Trp)
|
|
|
NM_006642.5(SDCCAG8):c.2105G>A (p.Arg702Gln)
|
rs2148267381
|
|
NM_006642.5(SDCCAG8):c.2108C>T (p.Thr703Ile)
|
|
|
NM_006642.5(SDCCAG8):c.2112+2T>C
|
|
|
NM_006642.5(SDCCAG8):c.2113-1G>T
|
|
|
NM_006642.5(SDCCAG8):c.2124G>A (p.Met708Ile)
|
rs1669058410
|
|
NM_006642.5(SDCCAG8):c.2139_2141dup (p.Cys713dup)
|
rs1268199421
|
|
NM_006642.5(SDCCAG8):c.22T>C (p.Ser8Pro)
|
rs1193390013
|
|
NM_006642.5(SDCCAG8):c.244C>A (p.Arg82Ser)
|
rs143447584
|
|
NM_006642.5(SDCCAG8):c.245G>T (p.Arg82Leu)
|
|
|
NM_006642.5(SDCCAG8):c.263A>G (p.Glu88Gly)
|
|
|
NM_006642.5(SDCCAG8):c.277C>T (p.Pro93Ser)
|
rs1284369812
|
|
NM_006642.5(SDCCAG8):c.284GAA[2] (p.Arg97del)
|
rs751190536
|
|
NM_006642.5(SDCCAG8):c.309G>T (p.Arg103Ser)
|
|
|
NM_006642.5(SDCCAG8):c.31G>C (p.Glu11Gln)
|
rs773442925
|
|
NM_006642.5(SDCCAG8):c.331A>G (p.Asn111Asp)
|
|
|
NM_006642.5(SDCCAG8):c.359A>T (p.His120Leu)
|
|
|
NM_006642.5(SDCCAG8):c.374A>C (p.Gln125Pro)
|
rs2149268706
|
|
NM_006642.5(SDCCAG8):c.398A>G (p.Glu133Gly)
|
|
|
NM_006642.5(SDCCAG8):c.416G>T (p.Cys139Phe)
|
rs773522256
|
|
NM_006642.5(SDCCAG8):c.420+5G>A
|
|
|
NM_006642.5(SDCCAG8):c.420G>T (p.Lys140Asn)
|
|
|
NM_006642.5(SDCCAG8):c.426A>T (p.Glu142Asp)
|
|
|
NM_006642.5(SDCCAG8):c.427C>G (p.Leu143Val)
|
rs371179612
|
|
NM_006642.5(SDCCAG8):c.431C>T (p.Ser144Phe)
|
rs1453249734
|
|
NM_006642.5(SDCCAG8):c.439A>G (p.Lys147Glu)
|
|
|
NM_006642.5(SDCCAG8):c.43G>A (p.Gly15Arg)
|
|
|
NM_006642.5(SDCCAG8):c.452A>G (p.Gln151Arg)
|
|
|
NM_006642.5(SDCCAG8):c.472G>A (p.Glu158Lys)
|
|
|
NM_006642.5(SDCCAG8):c.48G>T (p.Gln16His)
|
rs1398602761
|
|
NM_006642.5(SDCCAG8):c.547-3T>C
|
|
|
NM_006642.5(SDCCAG8):c.553A>G (p.Met185Val)
|
|
|
NM_006642.5(SDCCAG8):c.557A>C (p.His186Pro)
|
|
|
NM_006642.5(SDCCAG8):c.557A>G (p.His186Arg)
|
|
|
NM_006642.5(SDCCAG8):c.578G>C (p.Gly193Ala)
|
rs750128305
|
|
NM_006642.5(SDCCAG8):c.620C>T (p.Ser207Phe)
|
rs1182767716
|
|
NM_006642.5(SDCCAG8):c.62_64dup (p.Leu21_Arg22insLeu)
|
|
|
NM_006642.5(SDCCAG8):c.655G>T (p.Ala219Ser)
|
rs2149295739
|
|
NM_006642.5(SDCCAG8):c.675+5G>C
|
rs968117633
|
|
NM_006642.5(SDCCAG8):c.676-3T>C
|
|
|
NM_006642.5(SDCCAG8):c.682C>G (p.Leu228Val)
|
|
|
NM_006642.5(SDCCAG8):c.683T>C (p.Leu228Pro)
|
rs776422346
|
|
NM_006642.5(SDCCAG8):c.68A>G (p.Glu23Gly)
|
rs2067967236
|
|
NM_006642.5(SDCCAG8):c.71A>G (p.His24Arg)
|
|
|
NM_006642.5(SDCCAG8):c.721T>C (p.Ser241Pro)
|
|
|
NM_006642.5(SDCCAG8):c.745G>T (p.Asp249Tyr)
|
|
|
NM_006642.5(SDCCAG8):c.760C>G (p.Gln254Glu)
|
rs2149319564
|
|
NM_006642.5(SDCCAG8):c.761A>G (p.Gln254Arg)
|
|
|
NM_006642.5(SDCCAG8):c.766A>C (p.Thr256Pro)
|
rs2072330865
|
|
NM_006642.5(SDCCAG8):c.76A>G (p.Ser26Gly)
|
rs1179385721
|
|
NM_006642.5(SDCCAG8):c.815C>T (p.Ala272Val)
|
|
|
NM_006642.5(SDCCAG8):c.83G>A (p.Ser28Asn)
|
rs2149262996
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NM_006642.5(SDCCAG8):c.865C>T (p.His289Tyr)
|
|
|
NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys)
|
rs777002036
|
|
NM_006642.5(SDCCAG8):c.921A>T (p.Arg307Ser)
|
rs2072347543
|
|
NM_006642.5(SDCCAG8):c.952G>C (p.Ala318Pro)
|
rs2073277628
|
|
NM_006642.5(SDCCAG8):c.953C>T (p.Ala318Val)
|
|
|
NM_006642.5(SDCCAG8):c.966_977dup (p.Arg323_Leu326dup)
|
rs1365929568
|
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NM_006642.5(SDCCAG8):c.986C>G (p.Thr329Arg)
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|
|
NM_006642.5(SDCCAG8):c.998A>T (p.Glu333Val)
|
rs2149331580
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NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe)
|
rs11793196
|
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NM_012144.4(DNAI1):c.1006A>T (p.Thr336Ser)
|
rs1319380844
|
|
NM_012144.4(DNAI1):c.1046C>A (p.Ala349Glu)
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|
|
NM_012144.4(DNAI1):c.1088G>A (p.Gly363Asp)
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|
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NM_012144.4(DNAI1):c.112G>A (p.Gly38Ser)
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NM_012144.4(DNAI1):c.1132T>G (p.Tyr378Asp)
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|
|
NM_012144.4(DNAI1):c.1152_1161delinsA (p.Ser384_Met387delinsArg)
|
rs1824938179
|
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NM_012144.4(DNAI1):c.119A>G (p.Asp40Gly)
|
rs553371109
|
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NM_012144.4(DNAI1):c.1205G>A (p.Gly402Asp)
|
rs138954776
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NM_012144.4(DNAI1):c.1253C>G (p.Ser418Cys)
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|
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NM_012144.4(DNAI1):c.1264T>C (p.Phe422Leu)
|
rs1256336794
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NM_012144.4(DNAI1):c.1351_1352inv (p.Phe451Asn)
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|
|
NM_012144.4(DNAI1):c.1358C>T (p.Ser453Phe)
|
rs570528970
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NM_012144.4(DNAI1):c.1366T>C (p.Ser456Pro)
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|
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NM_012144.4(DNAI1):c.1390A>G (p.Thr464Ala)
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|
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NM_012144.4(DNAI1):c.139G>A (p.Ala47Thr)
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|
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NM_012144.4(DNAI1):c.1401+3_1401+10del
|
rs765551840
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NM_012144.4(DNAI1):c.1469G>A (p.Gly490Glu)
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|
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NM_012144.4(DNAI1):c.1485A>G (p.Pro495=)
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NM_012144.4(DNAI1):c.1489G>A (p.Gly497Ser)
|
rs1212462636
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NM_012144.4(DNAI1):c.1495G>A (p.Gly499Ser)
|
rs1412970451
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NM_012144.4(DNAI1):c.1538T>C (p.Leu513Pro)
|
rs1554691352
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NM_012144.4(DNAI1):c.1574C>G (p.Ser525Cys)
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NM_012144.4(DNAI1):c.1612G>T (p.Ala538Ser)
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NM_012144.4(DNAI1):c.1636G>A (p.Val546Met)
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NM_012144.4(DNAI1):c.1637T>C (p.Val546Ala)
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NM_012144.4(DNAI1):c.164T>C (p.Leu55Pro)
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NM_012144.4(DNAI1):c.1667T>C (p.Phe556Ser)
|
rs1554691490
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NM_012144.4(DNAI1):c.1700T>C (p.Ile567Thr)
|
rs1554691495
|
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NM_012144.4(DNAI1):c.1719-3C>T
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|
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NM_012144.4(DNAI1):c.1724C>T (p.Pro575Leu)
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NM_012144.4(DNAI1):c.1783T>C (p.Ser595Pro)
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|
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NM_012144.4(DNAI1):c.1787C>T (p.Thr596Ile)
|
rs2132084252
|
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NM_012144.4(DNAI1):c.178G>A (p.Ala60Thr)
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|
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NM_012144.4(DNAI1):c.180G>T (p.Ala60=)
|
rs201120508
|
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NM_012144.4(DNAI1):c.1813G>A (p.Gly605Arg)
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|
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NM_012144.4(DNAI1):c.1819-9T>G
|
rs1587094351
|
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NM_012144.4(DNAI1):c.1822C>T (p.His608Tyr)
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|
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NM_012144.4(DNAI1):c.1921C>T (p.His641Tyr)
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NM_012144.4(DNAI1):c.1925C>G (p.Pro642Arg)
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NM_012144.4(DNAI1):c.1935T>G (p.Ile645Met)
|
rs1393988058
|
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NM_012144.4(DNAI1):c.1987C>G (p.Arg663Gly)
|
rs564706097
|
|
NM_012144.4(DNAI1):c.2033C>T (p.Pro678Leu)
|
|
|
NM_012144.4(DNAI1):c.2035G>C (p.Ala679Pro)
|
rs111887810
|
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NM_012144.4(DNAI1):c.22G>C (p.Ala8Pro)
|
rs11547035
|
|
NM_012144.4(DNAI1):c.230C>T (p.Ala77Val)
|
|
|
NM_012144.4(DNAI1):c.244G>C (p.Val82Leu)
|
rs1564031598
|
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NM_012144.4(DNAI1):c.254G>C (p.Ser85Thr)
|
|
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NM_012144.4(DNAI1):c.256T>C (p.Phe86Leu)
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|
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NM_012144.4(DNAI1):c.302C>T (p.Ala101Val)
|
rs1824534743
|
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NM_012144.4(DNAI1):c.325A>G (p.Asn109Asp)
|
rs1824535486
|
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NM_012144.4(DNAI1):c.353G>T (p.Gly118Val)
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|
|
NM_012144.4(DNAI1):c.366T>A (p.His122Gln)
|
rs1060503514
|
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NM_012144.4(DNAI1):c.373G>A (p.Asp125Asn)
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|
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NM_012144.4(DNAI1):c.409G>A (p.Val137Met)
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NM_012144.4(DNAI1):c.419A>T (p.Glu140Val)
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|
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NM_012144.4(DNAI1):c.45G>T (p.Lys15Asn)
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|
|
NM_012144.4(DNAI1):c.48+6G>A
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NM_012144.4(DNAI1):c.485A>T (p.Asp162Val)
|
rs1554687745
|
|
NM_012144.4(DNAI1):c.501G>T (p.Gly167=)
|
|
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NM_012144.4(DNAI1):c.503C>A (p.Ala168Glu)
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|
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NM_012144.4(DNAI1):c.557G>A (p.Arg186Lys)
|
rs1178602656
|
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NM_012144.4(DNAI1):c.601A>T (p.Thr201Ser)
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|
|
NM_012144.4(DNAI1):c.646C>T (p.Pro216Ser)
|
rs1824592383
|
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NM_012144.4(DNAI1):c.658A>G (p.Asn220Asp)
|
|
|
NM_012144.4(DNAI1):c.710A>T (p.Glu237Val)
|
rs1824644753
|
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NM_012144.4(DNAI1):c.741G>T (p.Lys247Asn)
|
rs562408105
|
|
NM_012144.4(DNAI1):c.763G>A (p.Ala255Thr)
|
|
|
NM_012144.4(DNAI1):c.780G>T (p.Lys260Asn)
|
rs2132065479
|
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NM_012144.4(DNAI1):c.787A>G (p.Met263Val)
|
rs750194621
|
|
NM_012144.4(DNAI1):c.788T>C (p.Met263Thr)
|
rs1228318421
|
|
NM_012144.4(DNAI1):c.7C>T (p.Pro3Ser)
|
|
|
NM_012144.4(DNAI1):c.803C>T (p.Ser268Phe)
|
rs1824648112
|
|
NM_012144.4(DNAI1):c.82G>T (p.Asp28Tyr)
|
|
|
NM_012144.4(DNAI1):c.845C>A (p.Ala282Asp)
|
|
|
NM_012144.4(DNAI1):c.903T>G (p.Asp301Glu)
|
|
|
NM_012144.4(DNAI1):c.918C>G (p.Asp306Glu)
|
rs772207177
|
|
NM_012144.4(DNAI1):c.956T>A (p.Leu319Gln)
|
|
|
NM_012144.4(DNAI1):c.980A>T (p.Asn327Ile)
|
|
|
NM_012210.4(TRIM32):c.1009A>G (p.Arg337Gly)
|
|
|
NM_012210.4(TRIM32):c.1013C>G (p.Ala338Gly)
|
|
|
NM_012210.4(TRIM32):c.1018C>A (p.Pro340Thr)
|
|
|
NM_012210.4(TRIM32):c.1031G>A (p.Arg344Gln)
|
|
|
NM_012210.4(TRIM32):c.1034G>C (p.Gly345Ala)
|
|
|
NM_012210.4(TRIM32):c.1045G>C (p.Ala349Pro)
|
|
|
NM_012210.4(TRIM32):c.1046C>T (p.Ala349Val)
|
rs774316527
|
|
NM_012210.4(TRIM32):c.1095C>T (p.Gly365=)
|
rs1861024296
|
|
NM_012210.4(TRIM32):c.1105G>A (p.Gly369Arg)
|
rs2132073931
|
|
NM_012210.4(TRIM32):c.1110G>A (p.Met370Ile)
|
rs1861024967
|
|
NM_012210.4(TRIM32):c.1114A>C (p.Asn372His)
|
|
|
NM_012210.4(TRIM32):c.1135G>A (p.Val379Met)
|
rs1861026363
|
|
NM_012210.4(TRIM32):c.1139C>G (p.Thr380Ser)
|
rs139277710
|
|
NM_012210.4(TRIM32):c.1143T>G (p.Ser381Arg)
|
rs1861027670
|
|
NM_012210.4(TRIM32):c.1167C>A (p.Asp389Glu)
|
rs2132074143
|
|
NM_012210.4(TRIM32):c.1199G>T (p.Arg400Leu)
|
rs373015960
|
|
NM_012210.4(TRIM32):c.11C>T (p.Ala4Val)
|
|
|
NM_012210.4(TRIM32):c.1204G>A (p.Gly402Ser)
|
rs555106908
|
|
NM_012210.4(TRIM32):c.1238G>T (p.Gly413Val)
|
|
|
NM_012210.4(TRIM32):c.1279C>T (p.Pro427Ser)
|
rs2132074445
|
|
NM_012210.4(TRIM32):c.1285C>T (p.Leu429Phe)
|
rs757634856
|
|
NM_012210.4(TRIM32):c.1303G>A (p.Ala435Thr)
|
rs1861037722
|
|
NM_012210.4(TRIM32):c.1313G>A (p.Cys438Tyr)
|
rs1861038374
|
|
NM_012210.4(TRIM32):c.1315C>G (p.Gln439Glu)
|
rs2132074558
|
|
NM_012210.4(TRIM32):c.1354C>A (p.Leu452Ile)
|
|
|
NM_012210.4(TRIM32):c.1376G>A (p.Gly459Asp)
|
|
|
NM_012210.4(TRIM32):c.137A>G (p.Gln46Arg)
|
|
|
NM_012210.4(TRIM32):c.1381T>C (p.Cys461Arg)
|
|
|
NM_012210.4(TRIM32):c.1387G>C (p.Ala463Pro)
|
rs886043897
|
|
NM_012210.4(TRIM32):c.1434G>T (p.Leu478Phe)
|
|
|
NM_012210.4(TRIM32):c.1449T>G (p.Phe483Leu)
|
rs2132074954
|
|
NM_012210.4(TRIM32):c.1499G>A (p.Arg500Gln)
|
|
|
NM_012210.4(TRIM32):c.149A>C (p.Lys50Thr)
|
|
|
NM_012210.4(TRIM32):c.1510G>T (p.Val504Leu)
|
rs1165772522
|
|
NM_012210.4(TRIM32):c.1546C>T (p.Pro516Ser)
|
|
|
NM_012210.4(TRIM32):c.1579G>T (p.Val527Phe)
|
rs368901621
|
|
NM_012210.4(TRIM32):c.1583A>G (p.Tyr528Cys)
|
|
|
NM_012210.4(TRIM32):c.1593G>A (p.Gln531=)
|
rs2132075353
|
|
NM_012210.4(TRIM32):c.1601G>A (p.Gly534Asp)
|
rs2132075369
|
|
NM_012210.4(TRIM32):c.164G>T (p.Ser55Ile)
|
rs1564215128
|
|
NM_012210.4(TRIM32):c.1687C>T (p.Arg563Cys)
|
|
|
NM_012210.4(TRIM32):c.1688G>T (p.Arg563Leu)
|
|
|
NM_012210.4(TRIM32):c.1695T>G (p.Ile565Met)
|
rs1564218246
|
|
NM_012210.4(TRIM32):c.1696A>G (p.Ser566Gly)
|
rs779755416
|
|
NM_012210.4(TRIM32):c.1703TCT[1] (p.Phe569del)
|
rs1190512893
|
|
NM_012210.4(TRIM32):c.1726C>T (p.Arg576Cys)
|
|
|
NM_012210.4(TRIM32):c.1729T>C (p.Cys577Arg)
|
|
|
NM_012210.4(TRIM32):c.1757G>A (p.Arg586His)
|
rs866695848
|
|
NM_012210.4(TRIM32):c.1757G>C (p.Arg586Pro)
|
|
|
NM_012210.4(TRIM32):c.1757G>T (p.Arg586Leu)
|
rs866695848
|
|
NM_012210.4(TRIM32):c.1757GTG[1] (p.Gly587del)
|
|
|
NM_012210.4(TRIM32):c.1763A>T (p.Asp588Val)
|
rs746890090
|
|
NM_012210.4(TRIM32):c.1768A>G (p.Ile590Val)
|
|
|
NM_012210.4(TRIM32):c.1786C>G (p.Arg596Gly)
|
rs765348678
|
|
NM_012210.4(TRIM32):c.1786C>T (p.Arg596Cys)
|
rs765348678
|
|
NM_012210.4(TRIM32):c.1787G>A (p.Arg596His)
|
rs750300057
|
|
NM_012210.4(TRIM32):c.178C>A (p.Arg60Ser)
|
rs1353830472
|
|
NM_012210.4(TRIM32):c.179G>A (p.Arg60His)
|
rs751028044
|
|
NM_012210.4(TRIM32):c.179G>T (p.Arg60Leu)
|
rs751028044
|
|
NM_012210.4(TRIM32):c.1858G>A (p.Val620Met)
|
rs1861072162
|
|
NM_012210.4(TRIM32):c.1864A>G (p.Ile622Val)
|
rs1366193406
|
|
NM_012210.4(TRIM32):c.1870C>G (p.Leu624Val)
|
rs1564218609
|
|
NM_012210.4(TRIM32):c.1871T>C (p.Leu624Pro)
|
rs761193342
|
|
NM_012210.4(TRIM32):c.1874C>T (p.Thr625Ile)
|
rs1861074314
|
|
NM_012210.4(TRIM32):c.1879A>G (p.Lys627Glu)
|
|
|
NM_012210.4(TRIM32):c.1885C>T (p.Gln629Ter)
|
|
|
NM_012210.4(TRIM32):c.1888C>G (p.Leu630Val)
|
|
|
NM_012210.4(TRIM32):c.188T>C (p.Phe63Ser)
|
rs1860952573
|
|
NM_012210.4(TRIM32):c.1934A>G (p.Tyr645Cys)
|
rs1861076438
|
|
NM_012210.4(TRIM32):c.1948T>C (p.Tyr650His)
|
rs1861077008
|
|
NM_012210.4(TRIM32):c.1951T>C (p.Ser651Pro)
|
rs1402865703
|
|
NM_012210.4(TRIM32):c.1955C>T (p.Thr652Ile)
|
rs2132076367
|
|
NM_012210.4(TRIM32):c.20C>T (p.Ser7Phe)
|
|
|
NM_012210.4(TRIM32):c.232G>A (p.Asp78Asn)
|
rs1252982308
|
|
NM_012210.4(TRIM32):c.236A>T (p.Asn79Ile)
|
|
|
NM_012210.4(TRIM32):c.242C>T (p.Thr81Ile)
|
|
|
NM_012210.4(TRIM32):c.244G>A (p.Val82Met)
|
rs1167389328
|
|
NM_012210.4(TRIM32):c.251A>T (p.Lys84Met)
|
|
|
NM_012210.4(TRIM32):c.276C>A (p.Ser92Arg)
|
rs140589523
|
|
NM_012210.4(TRIM32):c.280G>A (p.Ala94Thr)
|
rs1231169096
|
|
NM_012210.4(TRIM32):c.281C>T (p.Ala94Val)
|
rs997358002
|
|
NM_012210.4(TRIM32):c.316C>T (p.Arg106Cys)
|
rs1390593037
|
|
NM_012210.4(TRIM32):c.317G>A (p.Arg106His)
|
rs760730435
|
|
NM_012210.4(TRIM32):c.319C>G (p.Leu107Val)
|
rs886042410
|
|
NM_012210.4(TRIM32):c.338G>A (p.Arg113Gln)
|
|
|
NM_012210.4(TRIM32):c.341G>A (p.Ser114Asn)
|
rs192516080
|
|
NM_012210.4(TRIM32):c.347G>A (p.Gly116Asp)
|
rs767024504
|
|
NM_012210.4(TRIM32):c.381C>G (p.Asp127Glu)
|
|
|
NM_012210.4(TRIM32):c.389C>T (p.Pro130Leu)
|
|
|
NM_012210.4(TRIM32):c.398A>G (p.His133Arg)
|
rs1860971813
|
|
NM_012210.4(TRIM32):c.40C>T (p.Leu14Phe)
|
rs756350336
|
|
NM_012210.4(TRIM32):c.410C>T (p.Pro137Leu)
|
|
|
NM_012210.4(TRIM32):c.413T>G (p.Val138Gly)
|
rs918796736
|
|
NM_012210.4(TRIM32):c.422C>A (p.Ala141Glu)
|
rs930137730
|
|
NM_012210.4(TRIM32):c.437G>A (p.Arg146His)
|
rs1473368288
|
|
NM_012210.4(TRIM32):c.442G>C (p.Asp148His)
|
|
|
NM_012210.4(TRIM32):c.464G>C (p.Arg155Pro)
|
rs777914761
|
|
NM_012210.4(TRIM32):c.469C>T (p.Arg157Trp)
|
|
|
NM_012210.4(TRIM32):c.479T>C (p.Met160Thr)
|
rs199699832
|
|
NM_012210.4(TRIM32):c.479T>G (p.Met160Arg)
|
rs199699832
|
|
NM_012210.4(TRIM32):c.480G>C (p.Met160Ile)
|
rs200196832
|
|
NM_012210.4(TRIM32):c.485A>G (p.Glu162Gly)
|
rs1018629963
|
|
NM_012210.4(TRIM32):c.494G>A (p.Arg165Gln)
|
rs761591526
|
|
NM_012210.4(TRIM32):c.56A>C (p.Glu19Ala)
|
|
|
NM_012210.4(TRIM32):c.572A>G (p.Glu191Gly)
|
rs2132072188
|
|
NM_012210.4(TRIM32):c.583G>T (p.Val195Phe)
|
|
|
NM_012210.4(TRIM32):c.590A>G (p.Asp197Gly)
|
|
|
NM_012210.4(TRIM32):c.601C>G (p.Arg201Gly)
|
rs147304059
|
|
NM_012210.4(TRIM32):c.601C>T (p.Arg201Cys)
|
rs147304059
|
|
NM_012210.4(TRIM32):c.608G>A (p.Arg203Gln)
|
|
|
NM_012210.4(TRIM32):c.609G>T (p.Arg203=)
|
rs2132072344
|
|
NM_012210.4(TRIM32):c.638T>G (p.Val213Gly)
|
rs1860990982
|
|
NM_012210.4(TRIM32):c.661G>A (p.Val221Ile)
|
|
|
NM_012210.4(TRIM32):c.682C>T (p.Leu228Phe)
|
rs1860993761
|
|
NM_012210.4(TRIM32):c.697G>T (p.Val233Leu)
|
rs747723402
|
|
NM_012210.4(TRIM32):c.700C>A (p.Gln234Lys)
|
rs886043553
|
|
NM_012210.4(TRIM32):c.706G>A (p.Val236Met)
|
|
|
NM_012210.4(TRIM32):c.710_712del (p.Ser237_Arg238delinsCys)
|
|
|
NM_012210.4(TRIM32):c.713G>T (p.Arg238Leu)
|
rs564290779
|
|
NM_012210.4(TRIM32):c.735G>T (p.Lys245Asn)
|
|
|
NM_012210.4(TRIM32):c.739A>G (p.Lys247Glu)
|
rs2132072729
|
|
NM_012210.4(TRIM32):c.750T>G (p.Asp250Glu)
|
|
|
NM_012210.4(TRIM32):c.75G>C (p.Glu25Asp)
|
rs1262596490
|
|
NM_012210.4(TRIM32):c.769A>C (p.Thr257Pro)
|
rs2132072833
|
|
NM_012210.4(TRIM32):c.770C>T (p.Thr257Ile)
|
|
|
NM_012210.4(TRIM32):c.778GAG[2] (p.Glu262del)
|
rs545471341
|
|
NM_012210.4(TRIM32):c.811C>G (p.Arg271Gly)
|
rs372298402
|
|
NM_012210.4(TRIM32):c.811C>T (p.Arg271Trp)
|
rs372298402
|
|
NM_012210.4(TRIM32):c.827A>C (p.Gln276Pro)
|
|
|
NM_012210.4(TRIM32):c.836A>T (p.Glu279Val)
|
|
|
NM_012210.4(TRIM32):c.842T>C (p.Leu281Pro)
|
rs1861006758
|
|
NM_012210.4(TRIM32):c.851G>A (p.Gly284Asp)
|
rs1861007449
|
|
NM_012210.4(TRIM32):c.856G>A (p.Val286Ile)
|
rs776918693
|
|
NM_012210.4(TRIM32):c.863C>T (p.Pro288Leu)
|
|
|
NM_012210.4(TRIM32):c.873T>G (p.Ile291Met)
|
rs766687896
|
|
NM_012210.4(TRIM32):c.875G>A (p.Gly292Glu)
|
rs1554732992
|
|
NM_012210.4(TRIM32):c.883G>T (p.Val295Phe)
|
rs1554732997
|
|
NM_012210.4(TRIM32):c.893C>T (p.Pro298Leu)
|
rs2132073313
|
|
NM_012210.4(TRIM32):c.901G>A (p.Val301Ile)
|
rs1490242765
|
|
NM_012210.4(TRIM32):c.925A>G (p.Met309Val)
|
rs1861013304
|
|
NM_012210.4(TRIM32):c.925A>T (p.Met309Leu)
|
rs1861013304
|
|
NM_012210.4(TRIM32):c.926T>C (p.Met309Thr)
|
|
|
NM_012210.4(TRIM32):c.941C>T (p.Ser314Phe)
|
|
|
NM_012210.4(TRIM32):c.973A>T (p.Met325Leu)
|
|
|
NM_012210.4(TRIM32):c.981G>A (p.Met327Ile)
|
|
|
NM_012210.4(TRIM32):c.986C>G (p.Pro329Arg)
|
rs377510422
|
|
NM_012210.4(TRIM32):c.991_992delinsTT (p.Glu331Leu)
|
rs2132073592
|
|
NM_012472.6(DNAAF11):c.10+6C>A
|
|
|
NM_012472.6(DNAAF11):c.1013C>T (p.Pro338Leu)
|
rs140835420
|
|
NM_012472.6(DNAAF11):c.1021G>T (p.Val341Leu)
|
rs746914801
|
|
NM_012472.6(DNAAF11):c.1084AGT[1] (p.Ser364del)
|
rs1554679225
|
|
NM_012472.6(DNAAF11):c.1138A>C (p.Lys380Gln)
|
|
|
NM_012472.6(DNAAF11):c.1140+3A>G
|
rs1818509261
|
|
NM_012472.6(DNAAF11):c.1140+6T>A
|
|
|
NM_012472.6(DNAAF11):c.1142T>A (p.Val381Glu)
|
|
|
NM_012472.6(DNAAF11):c.1258C>A (p.Pro420Thr)
|
rs1554667007
|
|
NM_012472.6(DNAAF11):c.1271C>T (p.Ser424Leu)
|
|
|
NM_012472.6(DNAAF11):c.1294G>T (p.Val432Phe)
|
rs770349365
|
|
NM_012472.6(DNAAF11):c.1300G>A (p.Glu434Lys)
|
rs886062700
|
|
NM_012472.6(DNAAF11):c.1324C>T (p.Arg442Ter)
|
rs369985188
|
|
NM_012472.6(DNAAF11):c.1325G>A (p.Arg442Gln)
|
|
|
NM_012472.6(DNAAF11):c.193C>T (p.Leu65Phe)
|
rs2130779094
|
|
NM_012472.6(DNAAF11):c.272C>A (p.Ala91Glu)
|
|
|
NM_012472.6(DNAAF11):c.28A>G (p.Arg10Gly)
|
rs148650529
|
|
NM_012472.6(DNAAF11):c.403G>T (p.Val135Leu)
|
|
|
NM_012472.6(DNAAF11):c.409G>A (p.Ala137Thr)
|
rs2130540273
|
|
NM_012472.6(DNAAF11):c.47A>T (p.Asn16Ile)
|
|
|
NM_012472.6(DNAAF11):c.481G>T (p.Asp161Tyr)
|
|
|
NM_012472.6(DNAAF11):c.48_49insCTTTGT (p.Asn16_Asp17insLeuCys)
|
|
|
NM_012472.6(DNAAF11):c.4G>C (p.Gly2Arg)
|
rs527926539
|
|
NM_012472.6(DNAAF11):c.523G>T (p.Asp175Tyr)
|
rs1379337413
|
|
NM_012472.6(DNAAF11):c.668G>A (p.Ser223Asn)
|
rs1404624888
|
|
NM_012472.6(DNAAF11):c.707A>G (p.Asn236Ser)
|
rs1820155543
|
|
NM_012472.6(DNAAF11):c.714G>T (p.Lys238Asn)
|
|
|
NM_012472.6(DNAAF11):c.802A>T (p.Met268Leu)
|
rs1483225382
|
|
NM_012472.6(DNAAF11):c.80C>T (p.Ser27Leu)
|
|
|
NM_012472.6(DNAAF11):c.873G>C (p.Leu291Phe)
|
|
|
NM_012472.6(DNAAF11):c.901G>A (p.Val301Met)
|
|
|
NM_012472.6(DNAAF11):c.935A>T (p.Asp312Val)
|
|
|
NM_012472.6(DNAAF11):c.98T>C (p.Ile33Thr)
|
|
|
NM_014704.4(CEP104):c.1033C>G (p.Pro345Ala)
|
|
|
NM_014704.4(CEP104):c.1082C>G (p.Pro361Arg)
|
|
|
NM_014704.4(CEP104):c.1136A>G (p.Tyr379Cys)
|
|
|
NM_014704.4(CEP104):c.1199T>A (p.Met400Lys)
|
|
|
NM_014704.4(CEP104):c.1213A>G (p.Ile405Val)
|
|
|
NM_014704.4(CEP104):c.1216A>G (p.Ser406Gly)
|
|
|
NM_014704.4(CEP104):c.1217G>A (p.Ser406Asn)
|
rs1570811185
|
|
NM_014704.4(CEP104):c.1331A>G (p.Tyr444Cys)
|
|
|
NM_014704.4(CEP104):c.1444G>A (p.Val482Ile)
|
|
|
NM_014704.4(CEP104):c.1496C>T (p.Ala499Val)
|
|
|
NM_014704.4(CEP104):c.1550T>C (p.Leu517Pro)
|
rs1644264163
|
|
NM_014704.4(CEP104):c.1588A>G (p.Ile530Val)
|
rs561088543
|
|
NM_014704.4(CEP104):c.1651T>G (p.Phe551Val)
|
|
|
NM_014704.4(CEP104):c.166A>T (p.Ile56Leu)
|
rs2124693591
|
|
NM_014704.4(CEP104):c.1877G>A (p.Arg626His)
|
|
|
NM_014704.4(CEP104):c.1906A>G (p.Met636Val)
|
|
|
NM_014704.4(CEP104):c.2005G>A (p.Ala669Thr)
|
rs761349278
|
|
NM_014704.4(CEP104):c.2151+3T>C
|
rs771237087
|
|
NM_014704.4(CEP104):c.2183A>G (p.Asn728Ser)
|
|
|
NM_014704.4(CEP104):c.2246A>C (p.Tyr749Ser)
|
|
|
NM_014704.4(CEP104):c.254C>T (p.Ala85Val)
|
|
|
NM_014704.4(CEP104):c.2684C>A (p.Ala895Glu)
|
rs754145994
|
|
NM_014704.4(CEP104):c.2684C>T (p.Ala895Val)
|
rs754145994
|
|
NM_014704.4(CEP104):c.286G>C (p.Gly96Arg)
|
rs2124693275
|
|
NM_014704.4(CEP104):c.290A>G (p.Tyr97Cys)
|
|
|
NM_014704.4(CEP104):c.485A>G (p.Asn162Ser)
|
rs867268929
|
|
NM_014704.4(CEP104):c.497G>A (p.Arg166Gln)
|
|
|
NM_014704.4(CEP104):c.520C>T (p.Leu174Phe)
|
|
|
NM_014704.4(CEP104):c.590T>C (p.Leu197Pro)
|
|
|
NM_014704.4(CEP104):c.595G>A (p.Asp199Asn)
|
rs1557681983
|
|
NM_014704.4(CEP104):c.65G>A (p.Arg22Gln)
|
|
|
NM_014704.4(CEP104):c.772C>T (p.Arg258Cys)
|
|
|
NM_014704.4(CEP104):c.805G>A (p.Ala269Thr)
|
|
|
NM_014704.4(CEP104):c.817A>C (p.Lys273Gln)
|
|
|
NM_014704.4(CEP104):c.838C>T (p.Arg280Cys)
|
rs139901107
|
|
NM_014704.4(CEP104):c.83C>T (p.Ala28Val)
|
|
|
NM_014704.4(CEP104):c.886G>A (p.Glu296Lys)
|
|
|
NM_014704.4(CEP104):c.906T>A (p.Phe302Leu)
|
|
|
NM_014704.4(CEP104):c.928G>A (p.Ala310Thr)
|
rs370867227
|
|
NM_014704.4(CEP104):c.931C>T (p.Arg311Cys)
|
|
|
NM_014704.4(CEP104):c.961A>G (p.Met321Val)
|
|
|
NM_014714.4(IFT140):c.1037G>T (p.Gly346Val)
|
|
|
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr)
|
rs1188370536
|
|
NM_014714.4(IFT140):c.1056G>T (p.Arg352Ser)
|
rs750247837
|
|
NM_014714.4(IFT140):c.106A>T (p.Ser36Cys)
|
|
|
NM_014714.4(IFT140):c.1081C>T (p.Pro361Ser)
|
|
|
NM_014714.4(IFT140):c.1103G>C (p.Arg368Thr)
|
rs765706103
|
|
NM_014714.4(IFT140):c.110C>G (p.Thr37Arg)
|
rs1487413546
|
|
NM_014714.4(IFT140):c.1118C>T (p.Thr373Ile)
|
|
|
NM_014714.4(IFT140):c.1121C>T (p.Pro374Leu)
|
rs2034866707
|
|
NM_014714.4(IFT140):c.1135G>C (p.Gly379Arg)
|
rs2034865826
|
|
NM_014714.4(IFT140):c.113C>A (p.Thr38Asn)
|
rs747462746
|
|
NM_014714.4(IFT140):c.1144A>G (p.Thr382Ala)
|
rs748786377
|
|
NM_014714.4(IFT140):c.1187A>T (p.Asn396Ile)
|
|
|
NM_014714.4(IFT140):c.118A>G (p.Thr40Ala)
|
rs1331143723
|
|
NM_014714.4(IFT140):c.1243C>A (p.Gln415Lys)
|
|
|
NM_014714.4(IFT140):c.1268C>A (p.Ser423Tyr)
|
|
|
NM_014714.4(IFT140):c.1293C>A (p.Phe431Leu)
|
|
|
NM_014714.4(IFT140):c.1297T>G (p.Ser433Ala)
|
|
|
NM_014714.4(IFT140):c.1334A>G (p.His445Arg)
|
rs2141817075
|
|
NM_014714.4(IFT140):c.1359+13G>A
|
|
|
NM_014714.4(IFT140):c.1359G>A (p.Lys453=)
|
rs2034740047
|
|
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr)
|
rs747510464
|
|
NM_014714.4(IFT140):c.1394C>T (p.Ala465Val)
|
|
|
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val)
|
rs190034269
|
|
NM_014714.4(IFT140):c.1406T>A (p.Leu469His)
|
rs924912054
|
|
NM_014714.4(IFT140):c.1427G>C (p.Ser476Thr)
|
|
|
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser)
|
rs2034677396
|
|
NM_014714.4(IFT140):c.142G>A (p.Glu48Lys)
|
|
|
NM_014714.4(IFT140):c.1432+5G>A
|
|
|
NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr)
|
rs1596402406
|
|
NM_014714.4(IFT140):c.1465A>G (p.Met489Val)
|
rs778765501
|
|
NM_014714.4(IFT140):c.1483T>G (p.Tyr495Asp)
|
rs2141751528
|
|
NM_014714.4(IFT140):c.1486A>G (p.Thr496Ala)
|
|
|
NM_014714.4(IFT140):c.1490T>C (p.Val497Ala)
|
rs2141751314
|
|
NM_014714.4(IFT140):c.1498A>G (p.Asn500Asp)
|
|
|
NM_014714.4(IFT140):c.14A>T (p.Tyr5Phe)
|
|
|
NM_014714.4(IFT140):c.1502G>A (p.Arg501Gln)
|
|
|
NM_014714.4(IFT140):c.150G>T (p.Gly50=)
|
rs1257577001
|
|
NM_014714.4(IFT140):c.1514G>A (p.Arg505Gln)
|
|
|
NM_014714.4(IFT140):c.1519T>C (p.Trp507Arg)
|
|
|
NM_014714.4(IFT140):c.1520G>C (p.Trp507Ser)
|
|
|
NM_014714.4(IFT140):c.1525-5_1525-3del
|
rs757146365
|
|
NM_014714.4(IFT140):c.1528A>G (p.Thr510Ala)
|
|
|
NM_014714.4(IFT140):c.1529C>T (p.Thr510Ile)
|
|
|
NM_014714.4(IFT140):c.1535A>G (p.Lys512Arg)
|
rs2141634655
|
|
NM_014714.4(IFT140):c.1541T>G (p.Leu514Arg)
|
rs150903791
|
|
NM_014714.4(IFT140):c.1542CCT[1] (p.Leu516del)
|
|
|
NM_014714.4(IFT140):c.154T>C (p.Cys52Arg)
|
rs886051770
|
|
NM_014714.4(IFT140):c.1568A>T (p.Asn523Ile)
|
|
|
NM_014714.4(IFT140):c.1582G>C (p.Asp528His)
|
|
|
NM_014714.4(IFT140):c.1641T>G (p.Asp547Glu)
|
|
|
NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro)
|
rs762399912
|
|
NM_014714.4(IFT140):c.1652+4A>G
|
|
|
NM_014714.4(IFT140):c.1652+5A>T
|
rs1332507276
|
|
NM_014714.4(IFT140):c.1663G>A (p.Ala555Thr)
|
rs1318199702
|
|
NM_014714.4(IFT140):c.1669T>C (p.Cys557Arg)
|
|
|
NM_014714.4(IFT140):c.1677C>G (p.Cys559Trp)
|
rs2033834541
|
|
NM_014714.4(IFT140):c.1679G>A (p.Arg560Lys)
|
|
|
NM_014714.4(IFT140):c.1682G>T (p.Ser561Ile)
|
|
|
NM_014714.4(IFT140):c.1703G>A (p.Gly568Glu)
|
rs768821637
|
|
NM_014714.4(IFT140):c.1717G>T (p.Ala573Ser)
|
rs528350505
|
|
NM_014714.4(IFT140):c.1720T>C (p.Ser574Pro)
|
rs2033831042
|
|
NM_014714.4(IFT140):c.1727G>C (p.Arg576Pro)
|
rs373111085
|
|
NM_014714.4(IFT140):c.172G>A (p.Val58Ile)
|
|
|
NM_014714.4(IFT140):c.1732AGC[4] (p.Ser580dup)
|
rs2141595569
|
|
NM_014714.4(IFT140):c.1739G>A (p.Ser580Asn)
|
rs1019259823
|
|
NM_014714.4(IFT140):c.1739G>C (p.Ser580Thr)
|
rs1019259823
|
|
NM_014714.4(IFT140):c.173T>G (p.Val58Gly)
|
|
|
NM_014714.4(IFT140):c.1753A>C (p.Ser585Arg)
|
|
|
NM_014714.4(IFT140):c.175G>A (p.Glu59Lys)
|
|
|
NM_014714.4(IFT140):c.1771G>A (p.Ala591Thr)
|
rs751413638
|
|
NM_014714.4(IFT140):c.177G>C (p.Glu59Asp)
|
rs1431384802
|
|
NM_014714.4(IFT140):c.1782C>A (p.Ser594Arg)
|
rs2033711810
|
|
NM_014714.4(IFT140):c.1792A>G (p.Lys598Glu)
|
rs2141571032
|
|
NM_014714.4(IFT140):c.1816A>G (p.Met606Val)
|
rs1319739285
|
|
NM_014714.4(IFT140):c.1854A>C (p.Gln618His)
|
rs765410918
|
|
NM_014714.4(IFT140):c.1858G>A (p.Asp620Asn)
|
|
|
NM_014714.4(IFT140):c.1859A>C (p.Asp620Ala)
|
|
|
NM_014714.4(IFT140):c.1867G>C (p.Glu623Gln)
|
|
|
NM_014714.4(IFT140):c.1871C>T (p.Thr624Met)
|
rs891304446
|
|
NM_014714.4(IFT140):c.188G>C (p.Arg63Pro)
|
rs765411860
|
|
NM_014714.4(IFT140):c.1890A>G (p.Gln630=)
|
rs2141569269
|
|
NM_014714.4(IFT140):c.1891G>A (p.Glu631Lys)
|
|
|
NM_014714.4(IFT140):c.1891G>C (p.Glu631Gln)
|
rs777613696
|
|
NM_014714.4(IFT140):c.190G>C (p.Val64Leu)
|
|
|
NM_014714.4(IFT140):c.1937A>G (p.Tyr646Cys)
|
rs762218450
|
|
NM_014714.4(IFT140):c.1952A>G (p.His651Arg)
|
|
|
NM_014714.4(IFT140):c.1957T>C (p.Trp653Arg)
|
|
|
NM_014714.4(IFT140):c.1968_1969inv (p.Glu657Lys)
|
|
|
NM_014714.4(IFT140):c.1973C>T (p.Pro658Leu)
|
|
|
NM_014714.4(IFT140):c.1976G>T (p.Arg659Leu)
|
|
|
NM_014714.4(IFT140):c.1978C>A (p.Leu660Met)
|
rs2033579292
|
|
NM_014714.4(IFT140):c.1989C>G (p.Cys663Trp)
|
rs781117803
|
|
NM_014714.4(IFT140):c.1996G>A (p.Val666Met)
|
|
|
NM_014714.4(IFT140):c.2000A>G (p.Gln667Arg)
|
|
|
NM_014714.4(IFT140):c.2021C>T (p.Pro674Leu)
|
rs1240961381
|
|
NM_014714.4(IFT140):c.2023C>A (p.Gln675Lys)
|
rs1202626787
|
|
NM_014714.4(IFT140):c.2030C>T (p.Ala677Val)
|
rs1339244784
|
|
NM_014714.4(IFT140):c.2056G>A (p.Ala686Thr)
|
|
|
NM_014714.4(IFT140):c.2067+4C>G
|
rs111785408
|
|
NM_014714.4(IFT140):c.2068-3C>G
|
rs2033444839
|
|
NM_014714.4(IFT140):c.2089TTC[1] (p.Phe698del)
|
rs768883274
|
|
NM_014714.4(IFT140):c.208C>T (p.His70Tyr)
|
rs2142042420
|
|
NM_014714.4(IFT140):c.2090T>C (p.Phe697Ser)
|
rs1343501211
|
|
NM_014714.4(IFT140):c.2101G>A (p.Glu701Lys)
|
|
|
NM_014714.4(IFT140):c.2105A>G (p.Glu702Gly)
|
rs2033441889
|
|
NM_014714.4(IFT140):c.2111G>A (p.Gly704Asp)
|
|
|
NM_014714.4(IFT140):c.2123A>G (p.His708Arg)
|
rs2033440134
|
|
NM_014714.4(IFT140):c.2125G>A (p.Glu709Lys)
|
|
|
NM_014714.4(IFT140):c.2129G>T (p.Ser710Ile)
|
|
|
NM_014714.4(IFT140):c.212C>G (p.Pro71Arg)
|
|
|
NM_014714.4(IFT140):c.2137C>T (p.Arg713Trp)
|
|
|
NM_014714.4(IFT140):c.2158C>G (p.Leu720Val)
|
rs756482228
|
|
NM_014714.4(IFT140):c.2174T>C (p.Val725Ala)
|
|
|
NM_014714.4(IFT140):c.2177C>A (p.Pro726His)
|
rs1417500285
|
|
NM_014714.4(IFT140):c.218G>A (p.Arg73Gln)
|
rs149202904
|
|
NM_014714.4(IFT140):c.2194A>G (p.Arg732Gly)
|
rs2033435038
|
|
NM_014714.4(IFT140):c.2199G>A (p.Lys733=)
|
rs752216380
|
|
NM_014714.4(IFT140):c.2200C>T (p.Pro734Ser)
|
rs1298153861
|
|
NM_014714.4(IFT140):c.2204A>G (p.Glu735Gly)
|
|
|
NM_014714.4(IFT140):c.2221G>A (p.Asp741Asn)
|
|
|
NM_014714.4(IFT140):c.2259G>A (p.Met753Ile)
|
rs2033203151
|
|
NM_014714.4(IFT140):c.2273C>T (p.Pro758Leu)
|
|
|
NM_014714.4(IFT140):c.2287G>A (p.Val763Met)
|
|
|
NM_014714.4(IFT140):c.2315C>T (p.Thr772Ile)
|
|
|
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met)
|
rs2033196611
|
|
NM_014714.4(IFT140):c.2359G>C (p.Asp787His)
|
|
|
NM_014714.4(IFT140):c.2366A>T (p.Asp789Val)
|
rs1555486589
|
|
NM_014714.4(IFT140):c.2368G>A (p.Glu790Lys)
|
|
|
NM_014714.4(IFT140):c.2369A>T (p.Glu790Val)
|
|
|
NM_014714.4(IFT140):c.236G>T (p.Gly79Val)
|
|
|
NM_014714.4(IFT140):c.2372C>T (p.Ala791Val)
|
rs758544371
|
|
NM_014714.4(IFT140):c.2375T>C (p.Phe792Ser)
|
rs2033194698
|
|
NM_014714.4(IFT140):c.2392A>G (p.Ile798Val)
|
|
|
NM_014714.4(IFT140):c.2399+6G>A
|
|
|
NM_014714.4(IFT140):c.2400-3del
|
rs1396232913
|
|
NM_014714.4(IFT140):c.240G>T (p.Trp80Cys)
|
rs1471379682
|
|
NM_014714.4(IFT140):c.2426G>A (p.Arg809His)
|
|
|
NM_014714.4(IFT140):c.2426G>C (p.Arg809Pro)
|
rs780661065
|
|
NM_014714.4(IFT140):c.2432G>T (p.Cys811Phe)
|
rs1358171484
|
|
NM_014714.4(IFT140):c.2434G>T (p.Val812Leu)
|
rs569828117
|
|
NM_014714.4(IFT140):c.244A>G (p.Thr82Ala)
|
rs2035846064
|
|
NM_014714.4(IFT140):c.2479A>G (p.Met827Val)
|
rs372141549
|
|
NM_014714.4(IFT140):c.2480T>C (p.Met827Thr)
|
|
|
NM_014714.4(IFT140):c.2494G>A (p.Gly832Arg)
|
|
|
NM_014714.4(IFT140):c.2500C>G (p.Arg834Gly)
|
|
|
NM_014714.4(IFT140):c.2504C>G (p.Ala835Gly)
|
rs368232950
|
|
NM_014714.4(IFT140):c.2519A>G (p.Glu840Gly)
|
|
|
NM_014714.4(IFT140):c.251A>G (p.Glu84Gly)
|
rs755089438
|
|
NM_014714.4(IFT140):c.251A>T (p.Glu84Val)
|
|
|
NM_014714.4(IFT140):c.2526G>C (p.Glu842Asp)
|
|
|
NM_014714.4(IFT140):c.2527C>A (p.Pro843Thr)
|
rs1567331532
|
|
NM_014714.4(IFT140):c.2530G>A (p.Glu844Lys)
|
|
|
NM_014714.4(IFT140):c.2542C>A (p.Arg848Ser)
|
|
|
NM_014714.4(IFT140):c.2554C>G (p.Leu852Val)
|
|
|
NM_014714.4(IFT140):c.2564A>G (p.Gln855Arg)
|
|
|
NM_014714.4(IFT140):c.2572A>T (p.Met858Leu)
|
|
|
NM_014714.4(IFT140):c.2577+3G>A
|
|
|
NM_014714.4(IFT140):c.2577+4A>T
|
rs2141184162
|
|
NM_014714.4(IFT140):c.2585C>T (p.Ala862Val)
|
|
|
NM_014714.4(IFT140):c.25A>C (p.Ile9Leu)
|
|
|
NM_014714.4(IFT140):c.2612G>A (p.Arg871His)
|
rs905240853
|
|
NM_014714.4(IFT140):c.2617G>C (p.Asp873His)
|
rs560840162
|
|
NM_014714.4(IFT140):c.2627A>G (p.Asn876Ser)
|
rs775517181
|
|
NM_014714.4(IFT140):c.2636A>G (p.Tyr879Cys)
|
|
|
NM_014714.4(IFT140):c.2648G>T (p.Gly883Val)
|
|
|
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly)
|
rs554196965
|
|
NM_014714.4(IFT140):c.2671G>A (p.Val891Ile)
|
|
|
NM_014714.4(IFT140):c.2681A>G (p.His894Arg)
|
|
|
NM_014714.4(IFT140):c.2704A>C (p.Ser902Arg)
|
|
|
NM_014714.4(IFT140):c.2704A>G (p.Ser902Gly)
|
rs1433656005
|
|
NM_014714.4(IFT140):c.2744C>T (p.Ala915Val)
|
|
|
NM_014714.4(IFT140):c.2764A>G (p.Ser922Gly)
|
|
|
NM_014714.4(IFT140):c.2800G>T (p.Val934Leu)
|
|
|
NM_014714.4(IFT140):c.2812C>G (p.Leu938Val)
|
rs2141175204
|
|
NM_014714.4(IFT140):c.2818G>A (p.Glu940Lys)
|
rs2141175146
|
|
NM_014714.4(IFT140):c.2825T>C (p.Leu942Pro)
|
|
|
NM_014714.4(IFT140):c.2839C>A (p.Leu947Ile)
|
|
|
NM_014714.4(IFT140):c.2859G>T (p.Lys953Asn)
|
rs2040934250
|
|
NM_014714.4(IFT140):c.2864A>C (p.Lys955Thr)
|
rs2141174966
|
|
NM_014714.4(IFT140):c.2866A>G (p.Thr956Ala)
|
rs780823837
|
|
NM_014714.4(IFT140):c.2875C>T (p.Arg959Trp)
|
|
|
NM_014714.4(IFT140):c.2896G>A (p.Glu966Lys)
|
rs759898401
|
|
NM_014714.4(IFT140):c.2905G>A (p.Gly969Ser)
|
rs1343112452
|
|
NM_014714.4(IFT140):c.2907C>T (p.Gly969=)
|
rs1157630610
|
|
NM_014714.4(IFT140):c.2909A>T (p.Glu970Val)
|
rs2141172567
|
|
NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del)
|
rs1489901262
|
|
NM_014714.4(IFT140):c.2926C>A (p.His976Asn)
|
|
|
NM_014714.4(IFT140):c.2947G>C (p.Asp983His)
|
|
|
NM_014714.4(IFT140):c.2951A>G (p.His984Arg)
|
rs2141172218
|
|
NM_014714.4(IFT140):c.295C>T (p.Pro99Ser)
|
|
|
NM_014714.4(IFT140):c.2966G>A (p.Arg989His)
|
|
|
NM_014714.4(IFT140):c.2966G>C (p.Arg989Pro)
|
|
|
NM_014714.4(IFT140):c.2993A>G (p.Gln998Arg)
|
rs2141171936
|
|
NM_014714.4(IFT140):c.2997+3A>G
|
rs2040628786
|
|
NM_014714.4(IFT140):c.2997+6G>T
|
|
|
NM_014714.4(IFT140):c.3006A>G (p.Gln1002=)
|
|
|
NM_014714.4(IFT140):c.3016G>C (p.Glu1006Gln)
|
rs375292299
|
|
NM_014714.4(IFT140):c.302C>T (p.Thr101Ile)
|
|
|
NM_014714.4(IFT140):c.3031G>A (p.Ala1011Thr)
|
|
|
NM_014714.4(IFT140):c.3032C>T (p.Ala1011Val)
|
|
|
NM_014714.4(IFT140):c.3038C>T (p.Ser1013Phe)
|
rs2141171017
|
|
NM_014714.4(IFT140):c.304C>T (p.His102Tyr)
|
rs1596461586
|
|
NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys)
|
rs767290624
|
|
NM_014714.4(IFT140):c.3053G>A (p.Arg1018His)
|
|
|
NM_014714.4(IFT140):c.3053G>T (p.Arg1018Leu)
|
|
|
NM_014714.4(IFT140):c.3059A>G (p.Tyr1020Cys)
|
|
|
NM_014714.4(IFT140):c.3068AGG[2] (p.Glu1025del)
|
|
|
NM_014714.4(IFT140):c.3080G>C (p.Gly1027Ala)
|
|
|
NM_014714.4(IFT140):c.3109C>G (p.Gln1037Glu)
|
rs774547622
|
|
NM_014714.4(IFT140):c.3130C>T (p.Arg1044Cys)
|
|
|
NM_014714.4(IFT140):c.313G>A (p.Asp105Asn)
|
|
|
NM_014714.4(IFT140):c.3142_3144del
|
rs754866110
|
|
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn)
|
rs148194893
|
|
NM_014714.4(IFT140):c.315C>G (p.Asp105Glu)
|
rs772739900
|
|
NM_014714.4(IFT140):c.3164T>C (p.Leu1055Pro)
|
|
|
NM_014714.4(IFT140):c.316A>G (p.Ile106Val)
|
rs1465706247
|
|
NM_014714.4(IFT140):c.3188C>T (p.Ser1063Phe)
|
|
|
NM_014714.4(IFT140):c.3190C>G (p.Pro1064Ala)
|
|
|
NM_014714.4(IFT140):c.3201G>A (p.Met1067Ile)
|
|
|
NM_014714.4(IFT140):c.3203T>C (p.Ile1068Thr)
|
|
|
NM_014714.4(IFT140):c.3207G>T (p.Glu1069Asp)
|
|
|
NM_014714.4(IFT140):c.3212C>T (p.Ala1071Val)
|
rs2040595876
|
|
NM_014714.4(IFT140):c.3223GAG[1] (p.Glu1076del)
|
|
|
NM_014714.4(IFT140):c.3243G>A (p.Met1081Ile)
|
|
|
NM_014714.4(IFT140):c.3245A>T (p.Asp1082Val)
|
rs781204391
|
|
NM_014714.4(IFT140):c.3251C>T (p.Ala1084Val)
|
|
|
NM_014714.4(IFT140):c.325C>T (p.Leu109Phe)
|
|
|
NM_014714.4(IFT140):c.3269A>G (p.Lys1090Arg)
|
rs1007805827
|
|
NM_014714.4(IFT140):c.3270+19_3270+20inv
|
|
|
NM_014714.4(IFT140):c.3272C>G (p.Ala1091Gly)
|
|
|
NM_014714.4(IFT140):c.328C>T (p.Arg110Cys)
|
rs140159548
|
|
NM_014714.4(IFT140):c.3322G>A (p.Val1108Met)
|
rs2040587996
|
|
NM_014714.4(IFT140):c.3323T>C (p.Val1108Ala)
|
|
|
NM_014714.4(IFT140):c.3364G>A (p.Asp1122Asn)
|
|
|
NM_014714.4(IFT140):c.3368C>T (p.Pro1123Leu)
|
rs781672845
|
|
NM_014714.4(IFT140):c.3373C>T (p.Leu1125Phe)
|
rs1596302305
|
|
NM_014714.4(IFT140):c.3377T>C (p.Leu1126Pro)
|
|
|
NM_014714.4(IFT140):c.3394TTC[1] (p.Phe1133del)
|
rs2040585460
|
|
NM_014714.4(IFT140):c.3404A>G (p.Glu1135Gly)
|
rs2141164034
|
|
NM_014714.4(IFT140):c.3413_3414delinsTA (p.Gln1138Leu)
|
rs1567326635
|
|
NM_014714.4(IFT140):c.341G>T (p.Ser114Ile)
|
|
|
NM_014714.4(IFT140):c.3422G>A (p.Arg1141Lys)
|
|
|
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val)
|
rs370255916
|
|
NM_014714.4(IFT140):c.3430_3431delinsAT (p.Glu1144Met)
|
|
|
NM_014714.4(IFT140):c.3453+5G>A
|
|
|
NM_014714.4(IFT140):c.3454T>C (p.Tyr1152His)
|
|
|
NM_014714.4(IFT140):c.347A>G (p.Asn116Ser)
|
|
|
NM_014714.4(IFT140):c.3496A>G (p.Ile1166Val)
|
|
|
NM_014714.4(IFT140):c.3497T>C (p.Ile1166Thr)
|
rs1294933019
|
|
NM_014714.4(IFT140):c.3499A>G (p.Thr1167Ala)
|
rs1433941335
|
|
NM_014714.4(IFT140):c.3500C>T (p.Thr1167Ile)
|
|
|
NM_014714.4(IFT140):c.3507G>C (p.Glu1169Asp)
|
rs1480279504
|
|
NM_014714.4(IFT140):c.3521T>C (p.Met1174Thr)
|
|
|
NM_014714.4(IFT140):c.3526G>T (p.Val1176Leu)
|
|
|
NM_014714.4(IFT140):c.3535G>T (p.Asp1179Tyr)
|
rs1332512487
|
|
NM_014714.4(IFT140):c.3566G>T (p.Arg1189Leu)
|
rs149837281
|
|
NM_014714.4(IFT140):c.3587C>T (p.Ala1196Val)
|
rs760756337
|
|
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val)
|
rs566568065
|
|
NM_014714.4(IFT140):c.359C>G (p.Ser120Cys)
|
rs1457067377
|
|
NM_014714.4(IFT140):c.3602G>T (p.Arg1201Leu)
|
rs147292597
|
|
NM_014714.4(IFT140):c.3617A>G (p.His1206Arg)
|
|
|
NM_014714.4(IFT140):c.3644C>G (p.Ala1215Gly)
|
rs139871912
|
|
NM_014714.4(IFT140):c.3670G>A (p.Ala1224Thr)
|
rs373377650
|
|
NM_014714.4(IFT140):c.3682T>C (p.Ser1228Pro)
|
rs991385327
|
|
NM_014714.4(IFT140):c.369+4A>G
|
rs752104483
|
|
NM_014714.4(IFT140):c.3692C>T (p.Thr1231Met)
|
|
|
NM_014714.4(IFT140):c.370-12G>A
|
rs2141917000
|
|
NM_014714.4(IFT140):c.3712G>A (p.Ala1238Thr)
|
rs376953801
|
|
NM_014714.4(IFT140):c.3739T>C (p.Tyr1247His)
|
|
|
NM_014714.4(IFT140):c.3749C>T (p.Ala1250Val)
|
|
|
NM_014714.4(IFT140):c.3758A>G (p.Tyr1253Cys)
|
rs2141144779
|
|
NM_014714.4(IFT140):c.3770T>C (p.Leu1257Pro)
|
rs1470679979
|
|
NM_014714.4(IFT140):c.3810C>G (p.Ile1270Met)
|
rs557923123
|
|
NM_014714.4(IFT140):c.3811G>A (p.Gly1271Ser)
|
|
|
NM_014714.4(IFT140):c.3833C>A (p.Ala1278Asp)
|
rs147280047
|
|
NM_014714.4(IFT140):c.3833C>T (p.Ala1278Val)
|
|
|
NM_014714.4(IFT140):c.3862G>A (p.Ala1288Thr)
|
|
|
NM_014714.4(IFT140):c.3862G>C (p.Ala1288Pro)
|
|
|
NM_014714.4(IFT140):c.3869C>T (p.Ala1290Val)
|
|
|
NM_014714.4(IFT140):c.3874G>A (p.Val1292Met)
|
rs2141143375
|
|
NM_014714.4(IFT140):c.3877_3879del (p.Glu1293del)
|
rs1413533372
|
|
NM_014714.4(IFT140):c.3879G>T (p.Glu1293Asp)
|
rs2040472652
|
|
NM_014714.4(IFT140):c.3898T>C (p.Tyr1300His)
|
|
|
NM_014714.4(IFT140):c.3935A>G (p.Lys1312Arg)
|
|
|
NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4])
|
rs746697405
|
|
NM_014714.4(IFT140):c.3953A>G (p.Lys1318Arg)
|
rs2141142851
|
|
NM_014714.4(IFT140):c.3955G>A (p.Ala1319Thr)
|
rs2141142844
|
|
NM_014714.4(IFT140):c.3956C>T (p.Ala1319Val)
|
rs2040470204
|
|
NM_014714.4(IFT140):c.398A>C (p.Asp133Ala)
|
rs2141916604
|
|
NM_014714.4(IFT140):c.4022G>C (p.Arg1341Thr)
|
rs1054102092
|
|
NM_014714.4(IFT140):c.4027A>G (p.Ile1343Val)
|
rs771070134
|
|
NM_014714.4(IFT140):c.4040+3G>A
|
|
|
NM_014714.4(IFT140):c.4040+3G>T
|
rs779462689
|
|
NM_014714.4(IFT140):c.4058C>G (p.Pro1353Arg)
|
rs146666187
|
|
NM_014714.4(IFT140):c.406G>T (p.Gly136Cys)
|
rs2035235540
|
|
NM_014714.4(IFT140):c.4077G>T (p.Gln1359His)
|
rs1387346251
|
|
NM_014714.4(IFT140):c.4093G>A (p.Glu1365Lys)
|
|
|
NM_014714.4(IFT140):c.4121G>A (p.Arg1374His)
|
rs778892732
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NM_014714.4(IFT140):c.4123A>G (p.Ile1375Val)
|
rs1258339035
|
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NM_014714.4(IFT140):c.4126G>A (p.Gly1376Arg)
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NM_014714.4(IFT140):c.4132G>A (p.Val1378Ile)
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NM_014714.4(IFT140):c.4136A>T (p.Tyr1379Phe)
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NM_014714.4(IFT140):c.413T>G (p.Val138Gly)
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NM_014714.4(IFT140):c.4145T>A (p.Leu1382Gln)
|
rs1454067964
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NM_014714.4(IFT140):c.4150G>T (p.Glu1384Ter)
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NM_014714.4(IFT140):c.4166A>G (p.Lys1389Arg)
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NM_014714.4(IFT140):c.4179G>C (p.Gln1393His)
|
rs2040419700
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NM_014714.4(IFT140):c.4180_4182+12del
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NM_014714.4(IFT140):c.4187A>G (p.Tyr1396Cys)
|
rs2040132765
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NM_014714.4(IFT140):c.4190G>A (p.Arg1397Lys)
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NM_014714.4(IFT140):c.41C>T (p.Ala14Val)
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rs2036120849
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NM_014714.4(IFT140):c.4201G>C (p.Glu1401Gln)
|
rs2040132121
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NM_014714.4(IFT140):c.4204A>G (p.Met1402Val)
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NM_014714.4(IFT140):c.4207del (p.Arg1403fs)
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NM_014714.4(IFT140):c.4208G>T (p.Arg1403Leu)
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NM_014714.4(IFT140):c.4208GGC[2] (p.Arg1405del)
|
rs754312950
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NM_014714.4(IFT140):c.4220C>T (p.Pro1407Leu)
|
rs2141089845
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NM_014714.4(IFT140):c.4228A>G (p.Asn1410Asp)
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NM_014714.4(IFT140):c.4231A>C (p.Met1411Leu)
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NM_014714.4(IFT140):c.4232T>C (p.Met1411Thr)
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rs752233693
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NM_014714.4(IFT140):c.4242C>A (p.Tyr1414Ter)
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NM_014714.4(IFT140):c.4258G>A (p.Val1420Met)
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NM_014714.4(IFT140):c.4270C>T (p.His1424Tyr)
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NM_014714.4(IFT140):c.4272C>A (p.His1424Gln)
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rs781658694
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NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp)
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rs138697817
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NM_014714.4(IFT140):c.4277G>A (p.Gly1426Glu)
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rs886051708
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NM_014714.4(IFT140):c.4277G>T (p.Gly1426Val)
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NM_014714.4(IFT140):c.4330A>G (p.Met1444Val)
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rs547804955
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NM_014714.4(IFT140):c.4339G>A (p.Ala1447Thr)
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NM_014714.4(IFT140):c.4341del (p.Arg1448fs)
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rs1209319873
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NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del)
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rs760889117
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NM_014714.4(IFT140):c.4366G>A (p.Glu1456Lys)
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rs1386131080
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NM_014714.4(IFT140):c.4386_4387del (p.Ter1463ArgextTer?)
|
rs2040120370
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NM_014714.4(IFT140):c.438_440del (p.His146_Glu147delinsGln)
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NM_014714.4(IFT140):c.454C>G (p.Leu152Val)
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NM_014714.4(IFT140):c.46_57del (p.Gly16_Ser19del)
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NM_014714.4(IFT140):c.473G>A (p.Arg158Gln)
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NM_014714.4(IFT140):c.476T>C (p.Leu159Pro)
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NM_014714.4(IFT140):c.478C>A (p.Pro160Thr)
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NM_014714.4(IFT140):c.481C>T (p.Pro161Ser)
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rs148462329
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NM_014714.4(IFT140):c.482C>T (p.Pro161Leu)
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rs191927317
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NM_014714.4(IFT140):c.525C>G (p.Ser175Arg)
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rs772378665
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NM_014714.4(IFT140):c.554A>G (p.Asn185Ser)
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rs975918006
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NM_014714.4(IFT140):c.560A>G (p.Lys187Arg)
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rs756417017
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NM_014714.4(IFT140):c.567C>A (p.Ser189Arg)
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rs2035217954
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NM_014714.4(IFT140):c.570T>G (p.Ser190Arg)
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rs767008075
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NM_014714.4(IFT140):c.583C>A (p.Leu195Met)
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NM_014714.4(IFT140):c.584T>C (p.Leu195Pro)
|
rs764851284
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NM_014714.4(IFT140):c.587A>G (p.Lys196Arg)
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rs2141912122
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NM_014714.4(IFT140):c.609GTT[1] (p.Leu204del)
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NM_014714.4(IFT140):c.624T>A (p.Ser208Arg)
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rs2035215270
|
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NM_014714.4(IFT140):c.637A>C (p.Thr213Pro)
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rs2141882480
|
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NM_014714.4(IFT140):c.637A>G (p.Thr213Ala)
|
rs2141882480
|
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NM_014714.4(IFT140):c.638C>T (p.Thr213Ile)
|
rs146302646
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NM_014714.4(IFT140):c.644A>G (p.His215Arg)
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|
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NM_014714.4(IFT140):c.645C>G (p.His215Gln)
|
rs2035078296
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NM_014714.4(IFT140):c.659A>G (p.Lys220Arg)
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NM_014714.4(IFT140):c.661G>A (p.Gly221Ser)
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NM_014714.4(IFT140):c.676G>T (p.Val226Leu)
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NM_014714.4(IFT140):c.700C>A (p.Gln234Lys)
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NM_014714.4(IFT140):c.710T>C (p.Phe237Ser)
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NM_014714.4(IFT140):c.715A>T (p.Met239Leu)
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NM_014714.4(IFT140):c.718_720del (p.Glu240del)
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NM_014714.4(IFT140):c.72C>A (p.His24Gln)
|
rs2036118371
|
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NM_014714.4(IFT140):c.73C>G (p.Pro25Ala)
|
rs1408766601
|
|
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe)
|
rs886051768
|
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NM_014714.4(IFT140):c.757C>T (p.Arg253Trp)
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|
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NM_014714.4(IFT140):c.76G>C (p.Val26Leu)
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|
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NM_014714.4(IFT140):c.774G>A (p.Thr258=)
|
rs746955795
|
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NM_014714.4(IFT140):c.775G>A (p.Val259Met)
|
rs1392612759
|
|
NM_014714.4(IFT140):c.797AAG[1] (p.Glu267del)
|
rs2035068981
|
|
NM_014714.4(IFT140):c.810+6T>C
|
rs2035068589
|
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NM_014714.4(IFT140):c.810G>A (p.Lys270=)
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|
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NM_014714.4(IFT140):c.844G>C (p.Asp282His)
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|
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NM_014714.4(IFT140):c.849C>G (p.Ile283Met)
|
rs563162000
|
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NM_014714.4(IFT140):c.864C>T (p.Gly288=)
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|
|
NM_014714.4(IFT140):c.881C>T (p.Ala294Val)
|
rs1452513681
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NM_014714.4(IFT140):c.895G>T (p.Ala299Ser)
|
|
|
NM_014714.4(IFT140):c.903-5T>A
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NM_014714.4(IFT140):c.913A>G (p.Ile305Val)
|
|
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NM_014714.4(IFT140):c.914T>C (p.Ile305Thr)
|
|
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NM_014714.4(IFT140):c.922G>A (p.Gly308Arg)
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|
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NM_014714.4(IFT140):c.927G>C (p.Glu309Asp)
|
rs2141852274
|
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NM_014714.4(IFT140):c.937C>G (p.Leu313Val)
|
rs758052767
|
|
NM_014714.4(IFT140):c.94G>A (p.Val32Ile)
|
rs770234866
|
|
NM_014714.4(IFT140):c.94G>C (p.Val32Leu)
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|
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NM_014714.4(IFT140):c.94G>T (p.Val32Phe)
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|
|
NM_014714.4(IFT140):c.973G>A (p.Glu325Lys)
|
|
|
NM_014714.4(IFT140):c.974A>G (p.Glu325Gly)
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|
|
NM_014714.4(IFT140):c.97G>A (p.Ala33Thr)
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NM_014714.4(IFT140):c.986G>A (p.Cys329Tyr)
|
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NM_014714.4(IFT140):c.989T>C (p.Val330Ala)
|
rs2034932329
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NM_014714.4(IFT140):c.997T>G (p.Cys333Gly)
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|
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NM_014956.5(CEP164):c.1003A>G (p.Thr335Ala)
|
rs2042173963
|
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NM_014956.5(CEP164):c.100C>G (p.Arg34Gly)
|
rs775902514
|
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NM_014956.5(CEP164):c.101G>A (p.Arg34Gln)
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|
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NM_014956.5(CEP164):c.101G>T (p.Arg34Leu)
|
rs760829793
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NM_014956.5(CEP164):c.1033A>C (p.Lys345Gln)
|
|
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NM_014956.5(CEP164):c.1052C>T (p.Thr351Ile)
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NM_014956.5(CEP164):c.1054G>A (p.Val352Ile)
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NM_014956.5(CEP164):c.1055_1057del (p.Val352del)
|
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NM_014956.5(CEP164):c.1058A>G (p.Asp353Gly)
|
rs2135917595
|
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NM_014956.5(CEP164):c.1067AGG[3] (p.Glu357dup)
|
rs2042177715
|
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NM_014956.5(CEP164):c.1075T>C (p.Ser359Pro)
|
|
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NM_014956.5(CEP164):c.1083_1084delinsAA (p.Glu362Lys)
|
rs2135917914
|
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NM_014956.5(CEP164):c.1089G>T (p.Glu363Asp)
|
rs748917124
|
|
NM_014956.5(CEP164):c.1114G>A (p.Ala372Thr)
|
rs2042180668
|
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NM_014956.5(CEP164):c.1117T>C (p.Ser373Pro)
|
rs2042181037
|
|
NM_014956.5(CEP164):c.1136G>A (p.Ser379Asn)
|
rs374832717
|
|
NM_014956.5(CEP164):c.1137T>A (p.Ser379Arg)
|
rs550044351
|
|
NM_014956.5(CEP164):c.1152+2dup
|
rs1592221277
|
|
NM_014956.5(CEP164):c.1159G>A (p.Glu387Lys)
|
rs2135971658
|
|
NM_014956.5(CEP164):c.1176G>T (p.Met392Ile)
|
rs759452273
|
|
NM_014956.5(CEP164):c.121A>G (p.Ile41Val)
|
|
|
NM_014956.5(CEP164):c.1229G>A (p.Gly410Asp)
|
rs1394172852
|
|
NM_014956.5(CEP164):c.1234G>A (p.Asp412Asn)
|
rs2042669971
|
|
NM_014956.5(CEP164):c.1240G>A (p.Gly414Ser)
|
rs2042670551
|
|
NM_014956.5(CEP164):c.1247G>A (p.Arg416His)
|
|
|
NM_014956.5(CEP164):c.1266C>G (p.His422Gln)
|
|
|
NM_014956.5(CEP164):c.1273G>T (p.Asp425Tyr)
|
|
|
NM_014956.5(CEP164):c.127G>C (p.Glu43Gln)
|
rs2038553739
|
|
NM_014956.5(CEP164):c.1283T>G (p.Val428Gly)
|
rs2136011109
|
|
NM_014956.5(CEP164):c.1289C>T (p.Ser430Phe)
|
rs2042677558
|
|
NM_014956.5(CEP164):c.1312C>T (p.Arg438Trp)
|
|
|
NM_014956.5(CEP164):c.1316A>C (p.Gln439Pro)
|
rs143370558
|
|
NM_014956.5(CEP164):c.1317+3G>A
|
rs886038607
|
|
NM_014956.5(CEP164):c.1343A>G (p.Asp448Gly)
|
|
|
NM_014956.5(CEP164):c.1370A>G (p.Asp457Gly)
|
rs2136117768
|
|
NM_014956.5(CEP164):c.1397G>C (p.Gly466Ala)
|
rs2136118190
|
|
NM_014956.5(CEP164):c.1402G>A (p.Glu468Lys)
|
rs2043218577
|
|
NM_014956.5(CEP164):c.1409+3A>T
|
|
|
NM_014956.5(CEP164):c.1410G>A (p.Arg470=)
|
|
|
NM_014956.5(CEP164):c.1421C>T (p.Pro474Leu)
|
|
|
NM_014956.5(CEP164):c.1432G>A (p.Glu478Lys)
|
rs1565542472
|
|
NM_014956.5(CEP164):c.1454C>G (p.Pro485Arg)
|
rs1277555628
|
|
NM_014956.5(CEP164):c.1454C>T (p.Pro485Leu)
|
|
|
NM_014956.5(CEP164):c.1466C>T (p.Ala489Val)
|
rs868163339
|
|
NM_014956.5(CEP164):c.1474G>A (p.Glu492Lys)
|
rs757278608
|
|
NM_014956.5(CEP164):c.1477G>C (p.Glu493Gln)
|
rs2136140136
|
|
NM_014956.5(CEP164):c.1480C>T (p.Pro494Ser)
|
rs114396665
|
|
NM_014956.5(CEP164):c.1496A>G (p.Glu499Gly)
|
|
|
NM_014956.5(CEP164):c.1508A>T (p.Glu503Val)
|
rs1293561746
|
|
NM_014956.5(CEP164):c.152G>A (p.Arg51Gln)
|
|
|
NM_014956.5(CEP164):c.154G>C (p.Glu52Gln)
|
|
|
NM_014956.5(CEP164):c.1552C>T (p.Leu518Phe)
|
rs2043350919
|
|
NM_014956.5(CEP164):c.1553T>C (p.Leu518Pro)
|
|
|
NM_014956.5(CEP164):c.1568C>A (p.Ser523Tyr)
|
rs997835172
|
|
NM_014956.5(CEP164):c.1568C>T (p.Ser523Phe)
|
rs997835172
|
|
NM_014956.5(CEP164):c.1589C>T (p.Pro530Leu)
|
|
|
NM_014956.5(CEP164):c.1607G>A (p.Cys536Tyr)
|
rs112527080
|
|
NM_014956.5(CEP164):c.160A>T (p.Ile54Phe)
|
|
|
NM_014956.5(CEP164):c.1615G>C (p.Gly539Arg)
|
rs758286092
|
|
NM_014956.5(CEP164):c.1616G>C (p.Gly539Ala)
|
rs200464405
|
|
NM_014956.5(CEP164):c.1637C>T (p.Ala546Val)
|
|
|
NM_014956.5(CEP164):c.1667C>A (p.Ala556Glu)
|
rs1053615798
|
|
NM_014956.5(CEP164):c.1669G>A (p.Glu557Lys)
|
|
|
NM_014956.5(CEP164):c.1670A>C (p.Glu557Ala)
|
|
|
NM_014956.5(CEP164):c.1678GAG[1] (p.Glu561del)
|
rs771007283
|
|
NM_014956.5(CEP164):c.1727G>T (p.Arg576Leu)
|
rs757579833
|
|
NM_014956.5(CEP164):c.1733C>T (p.Thr578Ile)
|
|
|
NM_014956.5(CEP164):c.1736A>G (p.Glu579Gly)
|
rs2136244485
|
|
NM_014956.5(CEP164):c.1738C>A (p.Pro580Thr)
|
rs758890143
|
|
NM_014956.5(CEP164):c.1747C>G (p.Pro583Ala)
|
rs865780691
|
|
NM_014956.5(CEP164):c.1751C>A (p.Pro584Gln)
|
rs1565560519
|
|
NM_014956.5(CEP164):c.1766A>G (p.Glu589Gly)
|
rs2136244992
|
|
NM_014956.5(CEP164):c.1771G>A (p.Ala591Thr)
|
|
|
NM_014956.5(CEP164):c.1781C>G (p.Ala594Gly)
|
|
|
NM_014956.5(CEP164):c.1783A>G (p.Met595Val)
|
|
|
NM_014956.5(CEP164):c.1792G>T (p.Ala598Ser)
|
rs150956860
|
|
NM_014956.5(CEP164):c.1884G>C (p.Glu628Asp)
|
|
|
NM_014956.5(CEP164):c.1903C>T (p.Arg635Trp)
|
|
|
NM_014956.5(CEP164):c.1909C>A (p.His637Asn)
|
rs2044090246
|
|
NM_014956.5(CEP164):c.1915C>A (p.Gln639Lys)
|
rs2044090670
|
|
NM_014956.5(CEP164):c.191C>T (p.Pro64Leu)
|
|
|
NM_014956.5(CEP164):c.1923G>T (p.Glu641Asp)
|
rs1435675301
|
|
NM_014956.5(CEP164):c.1928C>T (p.Ser643Phe)
|
rs2136247338
|
|
NM_014956.5(CEP164):c.1949G>A (p.Arg650Gln)
|
|
|
NM_014956.5(CEP164):c.195-10C>A
|
|
|
NM_014956.5(CEP164):c.1966G>A (p.Glu656Lys)
|
rs746865666
|
|
NM_014956.5(CEP164):c.1967AGG[3] (p.Glu659del)
|
rs1393409770
|
|
NM_014956.5(CEP164):c.1990G>C (p.Glu664Gln)
|
|
|
NM_014956.5(CEP164):c.2027A>C (p.Gln676Pro)
|
rs776074093
|
|
NM_014956.5(CEP164):c.2065A>G (p.Arg689Gly)
|
|
|
NM_014956.5(CEP164):c.2089C>A (p.Gln697Lys)
|
rs1332049981
|
|
NM_014956.5(CEP164):c.2112G>C (p.Glu704Asp)
|
rs778301430
|
|
NM_014956.5(CEP164):c.2113T>A (p.Ser705Thr)
|
rs2136323032
|
|
NM_014956.5(CEP164):c.2126C>T (p.Ala709Val)
|
rs2136323172
|
|
NM_014956.5(CEP164):c.214A>G (p.Ile72Val)
|
|
|
NM_014956.5(CEP164):c.2165T>C (p.Leu722Pro)
|
|
|
NM_014956.5(CEP164):c.2186T>G (p.Ile729Arg)
|
|
|
NM_014956.5(CEP164):c.2188G>A (p.Glu730Lys)
|
rs2136324049
|
|
NM_014956.5(CEP164):c.2201A>C (p.Lys734Thr)
|
|
|
NM_014956.5(CEP164):c.2233_2235del (p.Glu745del)
|
|
|
NM_014956.5(CEP164):c.2242C>G (p.Leu748Val)
|
rs763926600
|
|
NM_014956.5(CEP164):c.2269G>A (p.Gly757Arg)
|
rs757911593
|
|
NM_014956.5(CEP164):c.2272G>A (p.Glu758Lys)
|
|
|
NM_014956.5(CEP164):c.2290G>A (p.Ala764Thr)
|
|
|
NM_014956.5(CEP164):c.2303A>G (p.Lys768Arg)
|
|
|
NM_014956.5(CEP164):c.2312G>C (p.Ser771Thr)
|
rs1565578311
|
|
NM_014956.5(CEP164):c.2327G>C (p.Arg776Pro)
|
|
|
NM_014956.5(CEP164):c.232G>A (p.Ala78Thr)
|
|
|
NM_014956.5(CEP164):c.233C>G (p.Ala78Gly)
|
rs2039670463
|
|
NM_014956.5(CEP164):c.2359G>A (p.Glu787Lys)
|
|
|
NM_014956.5(CEP164):c.2362G>A (p.Val788Met)
|
rs2044795731
|
|
NM_014956.5(CEP164):c.2431C>T (p.Leu811Phe)
|
|
|
NM_014956.5(CEP164):c.2451A>C (p.Arg817Ser)
|
|
|
NM_014956.5(CEP164):c.2472C>A (p.His824Gln)
|
|
|
NM_014956.5(CEP164):c.2490C>G (p.His830Gln)
|
rs532278621
|
|
NM_014956.5(CEP164):c.2492A>G (p.Glu831Gly)
|
|
|
NM_014956.5(CEP164):c.2501G>C (p.Ser834Thr)
|
|
|
NM_014956.5(CEP164):c.2514G>C (p.Glu838Asp)
|
rs1395693893
|
|
NM_014956.5(CEP164):c.2518C>A (p.Arg840Ser)
|
|
|
NM_014956.5(CEP164):c.2518C>T (p.Arg840Cys)
|
|
|
NM_014956.5(CEP164):c.2519G>A (p.Arg840His)
|
rs201901144
|
|
NM_014956.5(CEP164):c.2527G>A (p.Val843Met)
|
rs566117718
|
|
NM_014956.5(CEP164):c.2530G>A (p.Glu844Lys)
|
|
|
NM_014956.5(CEP164):c.2534_2535delinsAA (p.Gly845Glu)
|
|
|
NM_014956.5(CEP164):c.2561T>C (p.Met854Thr)
|
|
|
NM_014956.5(CEP164):c.2574C>A (p.His858Gln)
|
|
|
NM_014956.5(CEP164):c.2585T>C (p.Met862Thr)
|
rs371143032
|
|
NM_014956.5(CEP164):c.2609A>C (p.Glu870Ala)
|
|
|
NM_014956.5(CEP164):c.2616+5C>G
|
rs2136378582
|
|
NM_014956.5(CEP164):c.2618A>T (p.Glu873Val)
|
rs2045131646
|
|
NM_014956.5(CEP164):c.2627A>G (p.Gln876Arg)
|
rs752659513
|
|
NM_014956.5(CEP164):c.2637G>C (p.Glu879Asp)
|
|
|
NM_014956.5(CEP164):c.2644G>C (p.Gly882Arg)
|
|
|
NM_014956.5(CEP164):c.2648A>C (p.His883Pro)
|
|
|
NM_014956.5(CEP164):c.2651T>C (p.Leu884Pro)
|
|
|
NM_014956.5(CEP164):c.2651T>G (p.Leu884Arg)
|
|
|
NM_014956.5(CEP164):c.2684A>G (p.His895Arg)
|
|
|
NM_014956.5(CEP164):c.268G>C (p.Glu90Gln)
|
|
|
NM_014956.5(CEP164):c.2690G>A (p.Arg897Gln)
|
rs1387200155
|
|
NM_014956.5(CEP164):c.2721C>G (p.His907Gln)
|
|
|
NM_014956.5(CEP164):c.272A>G (p.His91Arg)
|
rs2039675348
|
|
NM_014956.5(CEP164):c.2731G>C (p.Glu911Gln)
|
|
|
NM_014956.5(CEP164):c.2740C>G (p.Arg914Gly)
|
rs541217768
|
|
NM_014956.5(CEP164):c.2741G>T (p.Arg914Leu)
|
rs550799764
|
|
NM_014956.5(CEP164):c.2747G>A (p.Arg916Gln)
|
|
|
NM_014956.5(CEP164):c.2747G>C (p.Arg916Pro)
|
rs748681315
|
|
NM_014956.5(CEP164):c.275A>G (p.Tyr92Cys)
|
|
|
NM_014956.5(CEP164):c.2761G>A (p.Glu921Lys)
|
|
|
NM_014956.5(CEP164):c.2769G>C (p.Lys923Asn)
|
|
|
NM_014956.5(CEP164):c.2787G>C (p.Leu929Phe)
|
|
|
NM_014956.5(CEP164):c.278G>A (p.Arg93Gln)
|
|
|
NM_014956.5(CEP164):c.2801G>A (p.Arg934Lys)
|
|
|
NM_014956.5(CEP164):c.2812G>C (p.Val938Leu)
|
rs958659489
|
|
NM_014956.5(CEP164):c.2813T>G (p.Val938Gly)
|
rs374045323
|
|
NM_014956.5(CEP164):c.2822G>C (p.Arg941Thr)
|
rs749310077
|
|
NM_014956.5(CEP164):c.2834_2844+13dup
|
rs765251449
|
|
NM_014956.5(CEP164):c.2844+5G>C
|
rs2136434803
|
|
NM_014956.5(CEP164):c.2857C>T (p.Arg953Trp)
|
rs767099855
|
|
NM_014956.5(CEP164):c.2884_2885delinsAA (p.Val962Lys)
|
|
|
NM_014956.5(CEP164):c.2885T>G (p.Val962Gly)
|
rs2045276386
|
|
NM_014956.5(CEP164):c.2889G>C (p.Gln963His)
|
|
|
NM_014956.5(CEP164):c.2889G>T (p.Gln963His)
|
rs2045277340
|
|
NM_014956.5(CEP164):c.2890_2895dup (p.Arg964_Gln965dup)
|
rs2045276879
|
|
NM_014956.5(CEP164):c.28G>C (p.Asp10His)
|
rs2135058109
|
|
NM_014956.5(CEP164):c.2913+4T>G
|
|
|
NM_014956.5(CEP164):c.2913G>A (p.Glu971=)
|
rs2136439892
|
|
NM_014956.5(CEP164):c.2924C>A (p.Ala975Asp)
|
|
|
NM_014956.5(CEP164):c.2947G>A (p.Ala983Thr)
|
rs1251181865
|
|
NM_014956.5(CEP164):c.2965C>A (p.His989Asn)
|
rs2045329063
|
|
NM_014956.5(CEP164):c.2987A>G (p.Gln996Arg)
|
|
|
NM_014956.5(CEP164):c.2988G>T (p.Gln996His)
|
rs1565593444
|
|
NM_014956.5(CEP164):c.2993G>C (p.Arg998Pro)
|
|
|
NM_014956.5(CEP164):c.3005A>T (p.Asp1002Val)
|
rs2136452126
|
|
NM_014956.5(CEP164):c.3007G>C (p.Glu1003Gln)
|
|
|
NM_014956.5(CEP164):c.3019C>G (p.Arg1007Gly)
|
rs115387935
|
|
NM_014956.5(CEP164):c.3021C>T (p.Arg1007=)
|
|
|
NM_014956.5(CEP164):c.3032T>A (p.Leu1011Gln)
|
rs138868323
|
|
NM_014956.5(CEP164):c.3050T>G (p.Leu1017Arg)
|
|
|
NM_014956.5(CEP164):c.3057G>C (p.Gln1019His)
|
|
|
NM_014956.5(CEP164):c.3069G>T (p.Gln1023His)
|
rs1281977880
|
|
NM_014956.5(CEP164):c.3070C>G (p.Gln1024Glu)
|
|
|
NM_014956.5(CEP164):c.3087C>G (p.Phe1029Leu)
|
rs2045343660
|
|
NM_014956.5(CEP164):c.3089+5C>T
|
|
|
NM_014956.5(CEP164):c.3089G>C (p.Ser1030Thr)
|
rs2045343883
|
|
NM_014956.5(CEP164):c.3103G>A (p.Glu1035Lys)
|
|
|
NM_014956.5(CEP164):c.3124C>G (p.Leu1042Val)
|
|
|
NM_014956.5(CEP164):c.314C>T (p.Thr105Ile)
|
|
|
NM_014956.5(CEP164):c.3153T>G (p.Asn1051Lys)
|
rs2045422580
|
|
NM_014956.5(CEP164):c.3163C>T (p.Pro1055Ser)
|
rs2136466815
|
|
NM_014956.5(CEP164):c.3181C>T (p.Leu1061Phe)
|
rs2136467124
|
|
NM_014956.5(CEP164):c.3184C>T (p.His1062Tyr)
|
rs2136467201
|
|
NM_014956.5(CEP164):c.3236C>G (p.Ser1079Cys)
|
rs2136482246
|
|
NM_014956.5(CEP164):c.3239C>G (p.Ser1080Cys)
|
|
|
NM_014956.5(CEP164):c.3259G>C (p.Glu1087Gln)
|
rs911561261
|
|
NM_014956.5(CEP164):c.3278+5G>A
|
rs1382315277
|
|
NM_014956.5(CEP164):c.3289C>T (p.His1097Tyr)
|
rs764825500
|
|
NM_014956.5(CEP164):c.3322G>T (p.Val1108Leu)
|
|
|
NM_014956.5(CEP164):c.3339C>T (p.Ala1113=)
|
|
|
NM_014956.5(CEP164):c.3341A>T (p.Lys1114Met)
|
|
|
NM_014956.5(CEP164):c.3353T>C (p.Val1118Ala)
|
rs1455570319
|
|
NM_014956.5(CEP164):c.3355_3356inv (p.Gln1119Trp)
|
|
|
NM_014956.5(CEP164):c.3361A>G (p.Thr1121Ala)
|
|
|
NM_014956.5(CEP164):c.3365G>C (p.Arg1122Pro)
|
rs144910893
|
|
NM_014956.5(CEP164):c.3373C>T (p.Arg1125Trp)
|
|
|
NM_014956.5(CEP164):c.3379C>G (p.Arg1127Gly)
|
|
|
NM_014956.5(CEP164):c.3380G>T (p.Arg1127Leu)
|
rs753895198
|
|
NM_014956.5(CEP164):c.3382C>G (p.Gln1128Glu)
|
rs2136502331
|
|
NM_014956.5(CEP164):c.3416G>A (p.Arg1139His)
|
rs143802594
|
|
NM_014956.5(CEP164):c.3416G>T (p.Arg1139Leu)
|
rs143802594
|
|
NM_014956.5(CEP164):c.3427G>C (p.Ala1143Pro)
|
|
|
NM_014956.5(CEP164):c.3430A>G (p.Ser1144Gly)
|
rs2136503745
|
|
NM_014956.5(CEP164):c.3463A>G (p.Ile1155Val)
|
|
|
NM_014956.5(CEP164):c.347A>G (p.Lys116Arg)
|
|
|
NM_014956.5(CEP164):c.347A>T (p.Lys116Met)
|
rs867484690
|
|
NM_014956.5(CEP164):c.3484C>T (p.Arg1162Cys)
|
rs138487235
|
|
NM_014956.5(CEP164):c.3499A>G (p.Lys1167Glu)
|
|
|
NM_014956.5(CEP164):c.3501G>C (p.Lys1167Asn)
|
rs2136505455
|
|
NM_014956.5(CEP164):c.3501G>T (p.Lys1167Asn)
|
|
|
NM_014956.5(CEP164):c.3530C>T (p.Ser1177Leu)
|
|
|
NM_014956.5(CEP164):c.3535A>G (p.Met1179Val)
|
rs772378117
|
|
NM_014956.5(CEP164):c.3545G>A (p.Gly1182Asp)
|
rs2136880769
|
|
NM_014956.5(CEP164):c.355A>G (p.Lys119Glu)
|
|
|
NM_014956.5(CEP164):c.3571G>A (p.Glu1191Lys)
|
|
|
NM_014956.5(CEP164):c.3587T>C (p.Leu1196Ser)
|
|
|
NM_014956.5(CEP164):c.3605A>T (p.Glu1202Val)
|
rs2046909808
|
|
NM_014956.5(CEP164):c.3609+2_3609+5dup
|
|
|
NM_014956.5(CEP164):c.3609+4C>T
|
|
|
NM_014956.5(CEP164):c.3609+9C>G
|
|
|
NM_014956.5(CEP164):c.3613T>G (p.Ser1205Ala)
|
|
|
NM_014956.5(CEP164):c.3638C>T (p.Ser1213Phe)
|
rs2047007327
|
|
NM_014956.5(CEP164):c.3650A>G (p.Lys1217Arg)
|
rs2047009414
|
|
NM_014956.5(CEP164):c.3652G>T (p.Ala1218Ser)
|
rs1565634414
|
|
NM_014956.5(CEP164):c.3664G>A (p.Asp1222Asn)
|
|
|
NM_014956.5(CEP164):c.368A>G (p.Asp123Gly)
|
rs2135446465
|
|
NM_014956.5(CEP164):c.3707C>G (p.Ser1236Cys)
|
rs375184395
|
|
NM_014956.5(CEP164):c.370A>G (p.Arg124Gly)
|
rs2135446492
|
|
NM_014956.5(CEP164):c.3711T>A (p.Phe1237Leu)
|
|
|
NM_014956.5(CEP164):c.3718C>T (p.Pro1240Ser)
|
rs745898523
|
|
NM_014956.5(CEP164):c.3722A>T (p.His1241Leu)
|
|
|
NM_014956.5(CEP164):c.3725G>A (p.Arg1242His)
|
rs775665636
|
|
NM_014956.5(CEP164):c.3727G>A (p.Glu1243Lys)
|
rs2047016520
|
|
NM_014956.5(CEP164):c.3745A>G (p.Arg1249Gly)
|
|
|
NM_014956.5(CEP164):c.3747G>T (p.Arg1249Ser)
|
rs1458226426
|
|
NM_014956.5(CEP164):c.3749-5_3761dup
|
rs2136932910
|
|
NM_014956.5(CEP164):c.3751G>A (p.Asp1251Asn)
|
rs1270766012
|
|
NM_014956.5(CEP164):c.3751G>T (p.Asp1251Tyr)
|
|
|
NM_014956.5(CEP164):c.3770C>T (p.Thr1257Ile)
|
|
|
NM_014956.5(CEP164):c.3772_3774del (p.Ser1258del)
|
rs752854208
|
|
NM_014956.5(CEP164):c.3787G>A (p.Gly1263Arg)
|
|
|
NM_014956.5(CEP164):c.3787G>C (p.Gly1263Arg)
|
rs748443825
|
|
NM_014956.5(CEP164):c.3809A>G (p.Gln1270Arg)
|
|
|
NM_014956.5(CEP164):c.380C>G (p.Pro127Arg)
|
rs143659874
|
|
NM_014956.5(CEP164):c.3841A>T (p.Ile1281Phe)
|
rs2047109121
|
|
NM_014956.5(CEP164):c.3866C>T (p.Ser1289Leu)
|
rs758693012
|
|
NM_014956.5(CEP164):c.3872C>T (p.Pro1291Leu)
|
|
|
NM_014956.5(CEP164):c.3875C>T (p.Pro1292Leu)
|
|
|
NM_014956.5(CEP164):c.3899A>G (p.Gln1300Arg)
|
|
|
NM_014956.5(CEP164):c.3911G>A (p.Arg1304Gln)
|
|
|
NM_014956.5(CEP164):c.3928CCCACC[3] (p.1310PT[3])
|
rs1555159397
|
|
NM_014956.5(CEP164):c.3929C>T (p.Pro1310Leu)
|
rs145100782
|
|
NM_014956.5(CEP164):c.393+5G>A
|
rs1230691362
|
|
NM_014956.5(CEP164):c.4010dup (p.Asp1337fs)
|
rs2136940605
|
|
NM_014956.5(CEP164):c.4019A>C (p.Gln1340Pro)
|
rs2136940823
|
|
NM_014956.5(CEP164):c.4022G>A (p.Gly1341Glu)
|
|
|
NM_014956.5(CEP164):c.4024C>T (p.Pro1342Ser)
|
rs769315243
|
|
NM_014956.5(CEP164):c.4037C>G (p.Ser1346Cys)
|
rs2136941463
|
|
NM_014956.5(CEP164):c.4037C>T (p.Ser1346Phe)
|
|
|
NM_014956.5(CEP164):c.4052C>T (p.Thr1351Met)
|
|
|
NM_014956.5(CEP164):c.4063T>C (p.Phe1355Leu)
|
|
|
NM_014956.5(CEP164):c.4082G>A (p.Arg1361His)
|
|
|
NM_014956.5(CEP164):c.4082G>C (p.Arg1361Pro)
|
rs148987415
|
|
NM_014956.5(CEP164):c.4084A>G (p.Lys1362Glu)
|
rs377401620
|
|
NM_014956.5(CEP164):c.4099G>A (p.Gly1367Ser)
|
|
|
NM_014956.5(CEP164):c.4100G>T (p.Gly1367Val)
|
|
|
NM_014956.5(CEP164):c.4119C>G (p.Asn1373Lys)
|
rs73016324
|
|
NM_014956.5(CEP164):c.4129C>G (p.Pro1377Ala)
|
|
|
NM_014956.5(CEP164):c.412G>A (p.Ala138Thr)
|
|
|
NM_014956.5(CEP164):c.4163+3_4163+6del
|
rs2047273023
|
|
NM_014956.5(CEP164):c.4163+6C>T
|
rs576293282
|
|
NM_014956.5(CEP164):c.4172T>G (p.Leu1391Arg)
|
rs1274336690
|
|
NM_014956.5(CEP164):c.4175G>C (p.Arg1392Pro)
|
rs772989312
|
|
NM_014956.5(CEP164):c.4209G>C (p.Glu1403Asp)
|
|
|
NM_014956.5(CEP164):c.4237_4238delinsTA (p.Ile1413Tyr)
|
|
|
NM_014956.5(CEP164):c.4249C>T (p.Arg1417Trp)
|
rs745904143
|
|
NM_014956.5(CEP164):c.4250G>A (p.Arg1417Gln)
|
rs560527787
|
|
NM_014956.5(CEP164):c.4250G>C (p.Arg1417Pro)
|
rs560527787
|
|
NM_014956.5(CEP164):c.4252A>G (p.Arg1418Gly)
|
rs2137001261
|
|
NM_014956.5(CEP164):c.4255_4262dup (p.Glu1421fs)
|
rs2047398079
|
|
NM_014956.5(CEP164):c.4257G>T (p.Trp1419Cys)
|
|
|
NM_014956.5(CEP164):c.4264_4265insTGGTAAC (p.Arg1422fs)
|
|
|
NM_014956.5(CEP164):c.4287-6G>A
|
rs2137006602
|
|
NM_014956.5(CEP164):c.4288C>T (p.Pro1430Ser)
|
|
|
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs)
|
rs756288878
|
|
NM_014956.5(CEP164):c.4303A>G (p.Thr1435Ala)
|
|
|
NM_014956.5(CEP164):c.4321A>G (p.Thr1441Ala)
|
|
|
NM_014956.5(CEP164):c.4339C>G (p.Leu1447Val)
|
|
|
NM_014956.5(CEP164):c.4373A>C (p.Tyr1458Ser)
|
|
|
NM_014956.5(CEP164):c.4376G>A (p.Arg1459His)
|
rs2137008848
|
|
NM_014956.5(CEP164):c.440T>C (p.Leu147Pro)
|
|
|
NM_014956.5(CEP164):c.485G>A (p.Arg162His)
|
rs139763142
|
|
NM_014956.5(CEP164):c.497G>A (p.Ser166Asn)
|
|
|
NM_014956.5(CEP164):c.506T>C (p.Leu169Pro)
|
|
|
NM_014956.5(CEP164):c.53A>C (p.Tyr18Ser)
|
rs770996340
|
|
NM_014956.5(CEP164):c.547A>C (p.Met183Leu)
|
rs749917447
|
|
NM_014956.5(CEP164):c.547A>G (p.Met183Val)
|
rs749917447
|
|
NM_014956.5(CEP164):c.548T>C (p.Met183Thr)
|
rs144206271
|
|
NM_014956.5(CEP164):c.553-12_688-79del
|
rs2135702447
|
|
NM_014956.5(CEP164):c.557C>T (p.Ser186Leu)
|
rs1354068792
|
|
NM_014956.5(CEP164):c.581A>G (p.Tyr194Cys)
|
|
|
NM_014956.5(CEP164):c.583A>T (p.Thr195Ser)
|
rs2135703292
|
|
NM_014956.5(CEP164):c.584C>G (p.Thr195Arg)
|
|
|
NM_014956.5(CEP164):c.589G>A (p.Gly197Ser)
|
rs2135703365
|
|
NM_014956.5(CEP164):c.590G>A (p.Gly197Asp)
|
|
|
NM_014956.5(CEP164):c.602C>T (p.Ser201Phe)
|
|
|
NM_014956.5(CEP164):c.614A>G (p.Asp205Gly)
|
rs753078424
|
|
NM_014956.5(CEP164):c.623C>T (p.Ala208Val)
|
|
|
NM_014956.5(CEP164):c.644_646del (p.Gly215del)
|
rs759774330
|
|
NM_014956.5(CEP164):c.660GGA[1] (p.Glu221del)
|
rs2135704436
|
|
NM_014956.5(CEP164):c.679G>A (p.Asp227Asn)
|
|
|
NM_014956.5(CEP164):c.67A>G (p.Ile23Val)
|
rs2135058910
|
|
NM_014956.5(CEP164):c.687+5T>A
|
|
|
NM_014956.5(CEP164):c.687+7A>G
|
|
|
NM_014956.5(CEP164):c.687G>C (p.Gln229His)
|
rs2041112988
|
|
NM_014956.5(CEP164):c.706G>A (p.Glu236Lys)
|
rs749146317
|
|
NM_014956.5(CEP164):c.720C>G (p.Asn240Lys)
|
|
|
NM_014956.5(CEP164):c.734T>C (p.Ile245Thr)
|
|
|
NM_014956.5(CEP164):c.745G>T (p.Gly249Trp)
|
|
|
NM_014956.5(CEP164):c.749G>A (p.Gly250Asp)
|
rs368668415
|
|
NM_014956.5(CEP164):c.765+3A>G
|
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|
NM_014956.5(CEP164):c.765+4A>T
|
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|
NM_014956.5(CEP164):c.765+6A>G
|
rs2041252535
|
|
NM_014956.5(CEP164):c.770C>G (p.Ser257Cys)
|
rs2135912954
|
|
NM_014956.5(CEP164):c.796AAG[1] (p.Lys267del)
|
rs764638875
|
|
NM_014956.5(CEP164):c.79C>A (p.Gln27Lys)
|
rs565845914
|
|
NM_014956.5(CEP164):c.79C>G (p.Gln27Glu)
|
|
|
NM_014956.5(CEP164):c.803A>G (p.Asp268Gly)
|
|
|
NM_014956.5(CEP164):c.815A>G (p.Asp272Gly)
|
rs1411607770
|
|
NM_014956.5(CEP164):c.829G>T (p.Gly277Cys)
|
rs772164945
|
|
NM_014956.5(CEP164):c.833C>T (p.Pro278Leu)
|
rs376214075
|
|
NM_014956.5(CEP164):c.884G>T (p.Ser295Ile)
|
rs2135914534
|
|
NM_014956.5(CEP164):c.925G>A (p.Gly309Ser)
|
|
|
NM_014956.5(CEP164):c.931C>G (p.Pro311Ala)
|
|
|
NM_014956.5(CEP164):c.947A>G (p.Asn316Ser)
|
|
|
NM_014956.5(CEP164):c.961C>T (p.Pro321Ser)
|
rs566379982
|
|
NM_014956.5(CEP164):c.966G>C (p.Lys322Asn)
|
rs2042170733
|
|
NM_014956.5(CEP164):c.985A>T (p.Thr329Ser)
|
|
|
NM_014956.5(CEP164):c.986C>T (p.Thr329Ile)
|
|
|
NM_014956.5(CEP164):c.990_1001dup (p.Pro334_Thr335insLysAlaAspPro)
|
|
|
NM_014956.5(CEP164):c.997G>A (p.Asp333Asn)
|
|
|
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla)
|
rs746896173
|
|
NM_015272.5(RPGRIP1L):c.100C>G (p.Arg34Gly)
|
rs565245381
|
|
NM_015272.5(RPGRIP1L):c.100C>T (p.Arg34Trp)
|
|
|
NM_015272.5(RPGRIP1L):c.1029+6C>T
|
|
|
NM_015272.5(RPGRIP1L):c.1031T>A (p.Leu344Gln)
|
rs2151236847
|
|
NM_015272.5(RPGRIP1L):c.1040G>A (p.Arg347Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.1058A>G (p.Lys353Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.1062A>T (p.Glu354Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.110A>T (p.Lys37Met)
|
rs1403169303
|
|
NM_015272.5(RPGRIP1L):c.111G>T (p.Lys37Asn)
|
|
|
NM_015272.5(RPGRIP1L):c.1163A>G (p.Gln388Arg)
|
rs181526554
|
|
NM_015272.5(RPGRIP1L):c.116G>T (p.Arg39Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.1181C>T (p.Thr394Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.1202C>T (p.Thr401Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.1207A>G (p.Lys403Glu)
|
|
|
NM_015272.5(RPGRIP1L):c.121G>A (p.Ala41Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.1226G>A (p.Arg409Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.1243+6T>C
|
rs751839339
|
|
NM_015272.5(RPGRIP1L):c.1244-3A>C
|
|
|
NM_015272.5(RPGRIP1L):c.1247A>G (p.Gln416Arg)
|
rs753413251
|
|
NM_015272.5(RPGRIP1L):c.1258C>G (p.Leu420Val)
|
rs1967511576
|
|
NM_015272.5(RPGRIP1L):c.1301A>G (p.Gln434Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.1304A>G (p.Lys435Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.130C>T (p.Arg44Cys)
|
|
|
NM_015272.5(RPGRIP1L):c.1310A>G (p.Gln437Arg)
|
rs1227063404
|
|
NM_015272.5(RPGRIP1L):c.1311A>C (p.Gln437His)
|
|
|
NM_015272.5(RPGRIP1L):c.1328A>G (p.Lys443Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.1343A>G (p.Tyr448Cys)
|
rs2151164400
|
|
NM_015272.5(RPGRIP1L):c.1350G>A (p.Gln450=)
|
|
|
NM_015272.5(RPGRIP1L):c.1364A>G (p.Asn455Ser)
|
rs1967458211
|
|
NM_015272.5(RPGRIP1L):c.1383A>C (p.Glu461Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.1394T>G (p.Leu465Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.1400A>C (p.Lys467Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.1414C>G (p.Gln472Glu)
|
|
|
NM_015272.5(RPGRIP1L):c.1430T>C (p.Leu477Pro)
|
|
|
NM_015272.5(RPGRIP1L):c.1444A>G (p.Lys482Glu)
|
rs1967376456
|
|
NM_015272.5(RPGRIP1L):c.1476A>C (p.Glu492Asp)
|
rs1967370164
|
|
NM_015272.5(RPGRIP1L):c.1496A>C (p.Gln499Pro)
|
rs2151156698
|
|
NM_015272.5(RPGRIP1L):c.1514C>T (p.Thr505Met)
|
|
|
NM_015272.5(RPGRIP1L):c.151G>A (p.Glu51Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.1537A>G (p.Arg513Gly)
|
|
|
NM_015272.5(RPGRIP1L):c.1583T>A (p.Met528Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.1606A>C (p.Lys536Gln)
|
|
|
NM_015272.5(RPGRIP1L):c.1627G>A (p.Asp543Asn)
|
|
|
NM_015272.5(RPGRIP1L):c.1652A>G (p.Tyr551Cys)
|
rs1307023675
|
|
NM_015272.5(RPGRIP1L):c.1652A>T (p.Tyr551Phe)
|
rs1307023675
|
|
NM_015272.5(RPGRIP1L):c.1675G>A (p.Ala559Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.1699+4C>G
|
|
|
NM_015272.5(RPGRIP1L):c.1699+5A>C
|
rs865956479
|
|
NM_015272.5(RPGRIP1L):c.169T>A (p.Leu57Met)
|
rs1970745367
|
|
NM_015272.5(RPGRIP1L):c.1700C>A (p.Ala567Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.1714A>G (p.Ile572Val)
|
|
|
NM_015272.5(RPGRIP1L):c.1717G>A (p.Ala573Thr)
|
rs2151128525
|
|
NM_015272.5(RPGRIP1L):c.172C>A (p.His58Asn)
|
rs2151379355
|
|
NM_015272.5(RPGRIP1L):c.1739A>C (p.Lys580Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.173A>G (p.His58Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.1743T>A (p.Phe581Leu)
|
rs1966909934
|
|
NM_015272.5(RPGRIP1L):c.175G>C (p.Asp59His)
|
|
|
NM_015272.5(RPGRIP1L):c.1775A>G (p.Asp592Gly)
|
|
|
NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro)
|
rs386833997
|
|
NM_015272.5(RPGRIP1L):c.1831A>G (p.Ile611Val)
|
|
|
NM_015272.5(RPGRIP1L):c.1844C>A (p.Thr615Asn)
|
|
|
NM_015272.5(RPGRIP1L):c.1896C>G (p.Phe632Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.1913A>G (p.Tyr638Cys)
|
rs981992752
|
|
NM_015272.5(RPGRIP1L):c.1919T>G (p.Phe640Cys)
|
|
|
NM_015272.5(RPGRIP1L):c.1925T>C (p.Leu642Pro)
|
|
|
NM_015272.5(RPGRIP1L):c.1955A>G (p.His652Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.196C>A (p.Gln66Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.1972A>G (p.Thr658Ala)
|
|
|
NM_015272.5(RPGRIP1L):c.1991A>G (p.His664Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.1996A>G (p.Asn666Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.200A>G (p.His67Arg)
|
rs763837182
|
|
NM_015272.5(RPGRIP1L):c.200A>T (p.His67Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.2012A>G (p.Gln671Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.2014T>C (p.Tyr672His)
|
rs1966881046
|
|
NM_015272.5(RPGRIP1L):c.2017A>G (p.Ile673Val)
|
rs2151125534
|
|
NM_015272.5(RPGRIP1L):c.2018T>A (p.Ile673Asn)
|
|
|
NM_015272.5(RPGRIP1L):c.2032A>C (p.Ile678Leu)
|
rs958116016
|
|
NM_015272.5(RPGRIP1L):c.2032A>G (p.Ile678Val)
|
|
|
NM_015272.5(RPGRIP1L):c.2042A>G (p.Glu681Gly)
|
|
|
NM_015272.5(RPGRIP1L):c.2067A>G (p.Glu689=)
|
rs890062959
|
|
NM_015272.5(RPGRIP1L):c.2083_2084delinsAA (p.Ala695Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.2090A>G (p.Gln697Arg)
|
rs1396387199
|
|
NM_015272.5(RPGRIP1L):c.2096A>C (p.Lys699Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.2126G>A (p.Arg709Gln)
|
|
|
NM_015272.5(RPGRIP1L):c.2130A>G (p.Ile710Met)
|
rs748143379
|
|
NM_015272.5(RPGRIP1L):c.2138C>T (p.Thr713Ile)
|
rs1016477709
|
|
NM_015272.5(RPGRIP1L):c.2141C>G (p.Ala714Gly)
|
|
|
NM_015272.5(RPGRIP1L):c.2156C>G (p.Thr719Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.2158A>G (p.Lys720Glu)
|
|
|
NM_015272.5(RPGRIP1L):c.2196G>C (p.Trp732Cys)
|
rs2151102358
|
|
NM_015272.5(RPGRIP1L):c.2206A>G (p.Arg736Gly)
|
|
|
NM_015272.5(RPGRIP1L):c.2231G>T (p.Arg744Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.223A>G (p.Ile75Val)
|
rs2151379062
|
|
NM_015272.5(RPGRIP1L):c.2246G>A (p.Arg749Lys)
|
rs774573573
|
|
NM_015272.5(RPGRIP1L):c.2261G>A (p.Gly754Glu)
|
rs1966773695
|
|
NM_015272.5(RPGRIP1L):c.2273C>T (p.Ser758Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.2293_2301del (p.His765_Gln767del)
|
rs1555602657
|
|
NM_015272.5(RPGRIP1L):c.2296A>G (p.Met766Val)
|
rs2151101589
|
|
NM_015272.5(RPGRIP1L):c.230+7A>G
|
rs1970740052
|
|
NM_015272.5(RPGRIP1L):c.2303C>T (p.Ser768Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.2304+6C>T
|
|
|
NM_015272.5(RPGRIP1L):c.2305-15del
|
|
|
NM_015272.5(RPGRIP1L):c.2335C>T (p.Leu779Phe)
|
|
|
NM_015272.5(RPGRIP1L):c.2360G>A (p.Gly787Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.2360G>C (p.Gly787Ala)
|
rs996587890
|
|
NM_015272.5(RPGRIP1L):c.2380A>G (p.Ile794Val)
|
rs781443815
|
|
NM_015272.5(RPGRIP1L):c.2381T>C (p.Ile794Thr)
|
rs2151083626
|
|
NM_015272.5(RPGRIP1L):c.2383A>G (p.Thr795Ala)
|
rs1393329540
|
|
NM_015272.5(RPGRIP1L):c.2384C>T (p.Thr795Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.2389A>G (p.Arg797Gly)
|
|
|
NM_015272.5(RPGRIP1L):c.2398A>G (p.Asn800Asp)
|
rs752724338
|
|
NM_015272.5(RPGRIP1L):c.2404C>G (p.Leu802Val)
|
|
|
NM_015272.5(RPGRIP1L):c.2444T>C (p.Val815Ala)
|
|
|
NM_015272.5(RPGRIP1L):c.2465T>C (p.Phe822Ser)
|
|
|
NM_015272.5(RPGRIP1L):c.2467G>A (p.Ala823Thr)
|
rs1051268898
|
|
NM_015272.5(RPGRIP1L):c.2467_2468delinsTT (p.Ala823Leu)
|
rs2151082906
|
|
NM_015272.5(RPGRIP1L):c.249A>G (p.Ile83Met)
|
|
|
NM_015272.5(RPGRIP1L):c.250C>G (p.Arg84Gly)
|
rs770098954
|
|
NM_015272.5(RPGRIP1L):c.2563T>C (p.Tyr855His)
|
|
|
NM_015272.5(RPGRIP1L):c.256G>A (p.Val86Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.256G>C (p.Val86Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.2603A>G (p.Asp868Gly)
|
rs1966497416
|
|
NM_015272.5(RPGRIP1L):c.2609A>G (p.Asp870Gly)
|
rs1966496784
|
|
NM_015272.5(RPGRIP1L):c.2615A>G (p.Gln872Arg)
|
rs754997198
|
|
NM_015272.5(RPGRIP1L):c.2630T>C (p.Ile877Thr)
|
rs756072167
|
|
NM_015272.5(RPGRIP1L):c.2657C>T (p.Ser886Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.2665C>T (p.His889Tyr)
|
|
|
NM_015272.5(RPGRIP1L):c.2719G>T (p.Ala907Ser)
|
rs1966216548
|
|
NM_015272.5(RPGRIP1L):c.2726C>G (p.Thr909Ser)
|
|
|
NM_015272.5(RPGRIP1L):c.2729T>C (p.Ile910Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.2743A>C (p.Lys915Gln)
|
rs2151059707
|
|
NM_015272.5(RPGRIP1L):c.2765C>T (p.Pro922Leu)
|
rs2151059566
|
|
NM_015272.5(RPGRIP1L):c.2767C>T (p.Pro923Ser)
|
rs572508334
|
|
NM_015272.5(RPGRIP1L):c.2770A>C (p.Ser924Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.2771G>A (p.Ser924Asn)
|
rs142234650
|
|
NM_015272.5(RPGRIP1L):c.2773G>A (p.Gly925Arg)
|
rs2151059471
|
|
NM_015272.5(RPGRIP1L):c.2809C>T (p.Arg937Cys)
|
|
|
NM_015272.5(RPGRIP1L):c.2810G>T (p.Arg937Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.2839C>T (p.Leu947Phe)
|
rs576417383
|
|
NM_015272.5(RPGRIP1L):c.2840T>C (p.Leu947Pro)
|
|
|
NM_015272.5(RPGRIP1L):c.2842C>A (p.Pro948Thr)
|
rs1486116698
|
|
NM_015272.5(RPGRIP1L):c.2843C>T (p.Pro948Leu)
|
rs561327446
|
|
NM_015272.5(RPGRIP1L):c.2852C>T (p.Ser951Phe)
|
|
|
NM_015272.5(RPGRIP1L):c.2857G>A (p.Val953Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.2867T>C (p.Leu956Pro)
|
|
|
NM_015272.5(RPGRIP1L):c.2874+4A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2875-3T>G
|
|
|
NM_015272.5(RPGRIP1L):c.287G>A (p.Gly96Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.2915A>G (p.Asp972Gly)
|
|
|
NM_015272.5(RPGRIP1L):c.2923G>A (p.Val975Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.2935G>T (p.Asp979Tyr)
|
rs370687136
|
|
NM_015272.5(RPGRIP1L):c.2952G>C (p.Gln984His)
|
|
|
NM_015272.5(RPGRIP1L):c.2958+3A>G
|
rs2151056549
|
|
NM_015272.5(RPGRIP1L):c.2959-5A>G
|
|
|
NM_015272.5(RPGRIP1L):c.2959G>A (p.Glu987Lys)
|
rs1467277908
|
|
NM_015272.5(RPGRIP1L):c.2960A>C (p.Glu987Ala)
|
|
|
NM_015272.5(RPGRIP1L):c.2962A>T (p.Thr988Ser)
|
|
|
NM_015272.5(RPGRIP1L):c.2963C>T (p.Thr988Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.2968CCT[2] (p.Pro992del)
|
rs752076060
|
|
NM_015272.5(RPGRIP1L):c.296C>T (p.Pro99Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.2974C>G (p.Pro992Ala)
|
|
|
NM_015272.5(RPGRIP1L):c.2992A>G (p.Ile998Val)
|
|
|
NM_015272.5(RPGRIP1L):c.3007G>A (p.Glu1003Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.3014T>C (p.Ile1005Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.3027A>T (p.Glu1009Asp)
|
rs2151040118
|
|
NM_015272.5(RPGRIP1L):c.3035T>C (p.Met1012Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.3043G>C (p.Val1015Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.3047C>T (p.Pro1016Leu)
|
rs2151040012
|
|
NM_015272.5(RPGRIP1L):c.3061G>A (p.Val1021Ile)
|
rs552123467
|
|
NM_015272.5(RPGRIP1L):c.3068A>G (p.Gln1023Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.3110T>A (p.Met1037Lys)
|
rs2151036636
|
|
NM_015272.5(RPGRIP1L):c.3124G>C (p.Asp1042His)
|
|
|
NM_015272.5(RPGRIP1L):c.3134C>G (p.Ser1045Cys)
|
|
|
NM_015272.5(RPGRIP1L):c.3142T>C (p.Ser1048Pro)
|
|
|
NM_015272.5(RPGRIP1L):c.3175T>C (p.Ser1059Pro)
|
|
|
NM_015272.5(RPGRIP1L):c.3184G>A (p.Asp1062Asn)
|
|
|
NM_015272.5(RPGRIP1L):c.3211G>A (p.Glu1071Lys)
|
rs864622470
|
|
NM_015272.5(RPGRIP1L):c.3220+5C>A
|
|
|
NM_015272.5(RPGRIP1L):c.3221-3C>T
|
|
|
NM_015272.5(RPGRIP1L):c.3221-4A>G
|
|
|
NM_015272.5(RPGRIP1L):c.3221T>A (p.Val1074Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.322A>G (p.Met108Val)
|
rs1970437847
|
|
NM_015272.5(RPGRIP1L):c.3232A>C (p.Met1078Leu)
|
rs1965842435
|
|
NM_015272.5(RPGRIP1L):c.3233T>C (p.Met1078Thr)
|
rs1391765743
|
|
NM_015272.5(RPGRIP1L):c.3235T>G (p.Ser1079Ala)
|
rs1295300355
|
|
NM_015272.5(RPGRIP1L):c.324G>C (p.Met108Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.3257G>A (p.Cys1086Tyr)
|
rs772351648
|
|
NM_015272.5(RPGRIP1L):c.325G>A (p.Glu109Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.3263T>C (p.Ile1088Thr)
|
rs1185071339
|
|
NM_015272.5(RPGRIP1L):c.3294+6T>C
|
rs2151029086
|
|
NM_015272.5(RPGRIP1L):c.3295-6del
|
|
|
NM_015272.5(RPGRIP1L):c.3295-7G>T
|
|
|
NM_015272.5(RPGRIP1L):c.3295-7del
|
|
|
NM_015272.5(RPGRIP1L):c.3310C>T (p.Pro1104Ser)
|
|
|
NM_015272.5(RPGRIP1L):c.3313G>C (p.Gly1105Arg)
|
rs528501990
|
|
NM_015272.5(RPGRIP1L):c.3332C>T (p.Ala1111Val)
|
|
|
NM_015272.5(RPGRIP1L):c.3356G>T (p.Arg1119Leu)
|
rs1207253947
|
|
NM_015272.5(RPGRIP1L):c.3373G>T (p.Asp1125Tyr)
|
rs866468122
|
|
NM_015272.5(RPGRIP1L):c.3412G>A (p.Gly1138Ser)
|
rs2150974674
|
|
NM_015272.5(RPGRIP1L):c.3428C>A (p.Thr1143Asn)
|
rs111775292
|
|
NM_015272.5(RPGRIP1L):c.3432+4A>G
|
rs1449225904
|
|
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val)
|
rs1436841364
|
|
NM_015272.5(RPGRIP1L):c.3470G>C (p.Ser1157Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.3480T>G (p.Asp1160Glu)
|
|
|
NM_015272.5(RPGRIP1L):c.3493A>G (p.Met1165Val)
|
rs2150964658
|
|
NM_015272.5(RPGRIP1L):c.3497A>T (p.Asp1166Val)
|
|
|
NM_015272.5(RPGRIP1L):c.349G>A (p.Glu117Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.3511C>T (p.Arg1171Trp)
|
|
|
NM_015272.5(RPGRIP1L):c.3512G>A (p.Arg1171Gln)
|
|
|
NM_015272.5(RPGRIP1L):c.3533_3535del (p.Phe1178del)
|
rs1964556741
|
|
NM_015272.5(RPGRIP1L):c.3540T>G (p.Ser1180Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.3580A>C (p.Lys1194Gln)
|
|
|
NM_015272.5(RPGRIP1L):c.3580A>G (p.Lys1194Glu)
|
|
|
NM_015272.5(RPGRIP1L):c.3585T>G (p.Ser1195Arg)
|
rs376935464
|
|
NM_015272.5(RPGRIP1L):c.3608A>G (p.Tyr1203Cys)
|
|
|
NM_015272.5(RPGRIP1L):c.3623A>G (p.Tyr1208Cys)
|
|
|
NM_015272.5(RPGRIP1L):c.3659T>C (p.Ile1220Thr)
|
rs2150938312
|
|
NM_015272.5(RPGRIP1L):c.3691C>T (p.Pro1231Ser)
|
|
|
NM_015272.5(RPGRIP1L):c.3702-9C>A
|
|
|
NM_015272.5(RPGRIP1L):c.3765T>G (p.Ile1255Met)
|
rs2150920632
|
|
NM_015272.5(RPGRIP1L):c.3766G>T (p.Gly1256Cys)
|
rs1963628196
|
|
NM_015272.5(RPGRIP1L):c.3781G>A (p.Asp1261Asn)
|
rs1445612197
|
|
NM_015272.5(RPGRIP1L):c.379G>A (p.Glu127Lys)
|
rs2151352773
|
|
NM_015272.5(RPGRIP1L):c.3811_3812insT (p.Asp1271fs)
|
|
|
NM_015272.5(RPGRIP1L):c.3811del (p.Asp1271fs)
|
rs761954313
|
|
NM_015272.5(RPGRIP1L):c.3827A>G (p.Asn1276Ser)
|
rs1963622750
|
|
NM_015272.5(RPGRIP1L):c.3829A>G (p.Ile1277Val)
|
|
|
NM_015272.5(RPGRIP1L):c.3835+5G>A
|
rs754798360
|
|
NM_015272.5(RPGRIP1L):c.3844G>A (p.Ala1282Thr)
|
rs2150909535
|
|
NM_015272.5(RPGRIP1L):c.3845C>T (p.Ala1282Val)
|
rs2150909524
|
|
NM_015272.5(RPGRIP1L):c.3848G>A (p.Arg1283Gln)
|
|
|
NM_015272.5(RPGRIP1L):c.3880G>A (p.Val1294Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.3886G>A (p.Val1296Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.3887T>A (p.Val1296Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.3889G>A (p.Glu1297Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.3901G>A (p.Ala1301Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.3935A>C (p.Asp1312Ala)
|
rs1963404223
|
|
NM_015272.5(RPGRIP1L):c.431G>A (p.Gly144Asp)
|
rs1970430274
|
|
NM_015272.5(RPGRIP1L):c.440A>T (p.Gln147Leu)
|
rs2151352094
|
|
NM_015272.5(RPGRIP1L):c.458T>C (p.Val153Ala)
|
rs1970427633
|
|
NM_015272.5(RPGRIP1L):c.467G>A (p.Arg156His)
|
|
|
NM_015272.5(RPGRIP1L):c.467G>T (p.Arg156Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.482G>T (p.Arg161Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.490G>A (p.Ala164Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.503C>T (p.Ala168Val)
|
rs926999229
|
|
NM_015272.5(RPGRIP1L):c.505G>C (p.Gly169Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.52_57del (p.Gly18_Leu19del)
|
|
|
NM_015272.5(RPGRIP1L):c.530G>A (p.Gly177Asp)
|
rs987512823
|
|
NM_015272.5(RPGRIP1L):c.544G>A (p.Asp182Asn)
|
rs2151325702
|
|
NM_015272.5(RPGRIP1L):c.548C>T (p.Ala183Val)
|
|
|
NM_015272.5(RPGRIP1L):c.556G>C (p.Ala186Pro)
|
|
|
NM_015272.5(RPGRIP1L):c.562A>G (p.Thr188Ala)
|
|
|
NM_015272.5(RPGRIP1L):c.563C>T (p.Thr188Ile)
|
|
|
NM_015272.5(RPGRIP1L):c.590G>C (p.Gly197Ala)
|
|
|
NM_015272.5(RPGRIP1L):c.59A>C (p.Asn20Thr)
|
|
|
NM_015272.5(RPGRIP1L):c.609A>C (p.Glu203Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.638A>G (p.Asn213Ser)
|
rs2151318519
|
|
NM_015272.5(RPGRIP1L):c.682T>A (p.Leu228Met)
|
|
|
NM_015272.5(RPGRIP1L):c.706T>A (p.Leu236Met)
|
|
|
NM_015272.5(RPGRIP1L):c.721A>G (p.Asn241Asp)
|
rs1970023173
|
|
NM_015272.5(RPGRIP1L):c.740TTC[1] (p.Leu248del)
|
|
|
NM_015272.5(RPGRIP1L):c.752G>C (p.Arg251Pro)
|
rs767314963
|
|
NM_015272.5(RPGRIP1L):c.803T>A (p.Met268Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.805A>G (p.Ile269Val)
|
|
|
NM_015272.5(RPGRIP1L):c.86A>C (p.Glu29Ala)
|
|
|
NM_015272.5(RPGRIP1L):c.874C>T (p.Leu292Phe)
|
rs1969042766
|
|
NM_015272.5(RPGRIP1L):c.882+3A>G
|
rs1969042020
|
|
NM_015272.5(RPGRIP1L):c.882G>T (p.Glu294Asp)
|
|
|
NM_015272.5(RPGRIP1L):c.884A>C (p.Lys295Thr)
|
rs2151246140
|
|
NM_015272.5(RPGRIP1L):c.890G>A (p.Arg297Lys)
|
|
|
NM_015272.5(RPGRIP1L):c.919A>T (p.Met307Leu)
|
|
|
NM_015272.5(RPGRIP1L):c.929G>A (p.Gly310Glu)
|
rs2151245719
|
|
NM_015272.5(RPGRIP1L):c.935A>C (p.Glu312Ala)
|
rs2151245683
|
|
NM_015272.5(RPGRIP1L):c.961C>T (p.Arg321Cys)
|
|
|
NM_015272.5(RPGRIP1L):c.971G>C (p.Cys324Ser)
|
|
|
NM_015272.5(RPGRIP1L):c.972C>G (p.Cys324Trp)
|
|
|
NM_015272.5(RPGRIP1L):c.980T>G (p.Leu327Arg)
|
|
|
NM_015272.5(RPGRIP1L):c.992T>C (p.Leu331Ser)
|
|
|
NM_015512.5(DNAH1):c.1003C>G (p.Pro335Ala)
|
rs1553628078
|
|
NM_015512.5(DNAH1):c.1003C>T (p.Pro335Ser)
|
rs1553628078
|
|
NM_015512.5(DNAH1):c.10108G>A (p.Glu3370Lys)
|
|
|
NM_015512.5(DNAH1):c.10172A>C (p.Glu3391Ala)
|
rs767720513
|
|
NM_015512.5(DNAH1):c.10208G>T (p.Gly3403Val)
|
rs750043127
|
|
NM_015512.5(DNAH1):c.10325C>T (p.Thr3442Met)
|
|
|
NM_015512.5(DNAH1):c.10328G>A (p.Arg3443His)
|
|
|
NM_015512.5(DNAH1):c.10332G>A (p.Met3444Ile)
|
rs1704457226
|
|
NM_015512.5(DNAH1):c.10355G>A (p.Arg3452His)
|
|
|
NM_015512.5(DNAH1):c.10391C>T (p.Ala3464Val)
|
|
|
NM_015512.5(DNAH1):c.10394A>G (p.Asn3465Ser)
|
rs375477856
|
|
NM_015512.5(DNAH1):c.10396G>A (p.Val3466Met)
|
|
|
NM_015512.5(DNAH1):c.10407G>C (p.Met3469Ile)
|
|
|
NM_015512.5(DNAH1):c.10449G>A (p.Ser3483=)
|
rs780851318
|
|
NM_015512.5(DNAH1):c.1045C>T (p.Leu349Phe)
|
|
|
NM_015512.5(DNAH1):c.10501A>G (p.Ile3501Val)
|
|
|
NM_015512.5(DNAH1):c.10572G>A (p.Met3524Ile)
|
|
|
NM_015512.5(DNAH1):c.10608C>G (p.Asn3536Lys)
|
|
|
NM_015512.5(DNAH1):c.10609G>A (p.Glu3537Lys)
|
|
|
NM_015512.5(DNAH1):c.10642C>A (p.Leu3548Ile)
|
|
|
NM_015512.5(DNAH1):c.10652G>C (p.Gly3551Ala)
|
rs1407846110
|
|
NM_015512.5(DNAH1):c.10682C>T (p.Pro3561Leu)
|
|
|
NM_015512.5(DNAH1):c.10730T>C (p.Leu3577Pro)
|
rs1704533906
|
|
NM_015512.5(DNAH1):c.10759T>A (p.Ser3587Thr)
|
|
|
NM_015512.5(DNAH1):c.10784C>T (p.Ser3595Leu)
|
rs1704536648
|
|
NM_015512.5(DNAH1):c.10823G>A (p.Arg3608Gln)
|
rs775908803
|
|
NM_015512.5(DNAH1):c.10886G>A (p.Arg3629His)
|
|
|
NM_015512.5(DNAH1):c.1088T>A (p.Phe363Tyr)
|
|
|
NM_015512.5(DNAH1):c.10894C>T (p.Arg3632Cys)
|
|
|
NM_015512.5(DNAH1):c.10907T>C (p.Val3636Ala)
|
|
|
NM_015512.5(DNAH1):c.10919T>C (p.Met3640Thr)
|
rs1578204270
|
|
NM_015512.5(DNAH1):c.1092C>G (p.Cys364Trp)
|
rs768178265
|
|
NM_015512.5(DNAH1):c.1093G>A (p.Ala365Thr)
|
rs374001771
|
|
NM_015512.5(DNAH1):c.11035C>G (p.Pro3679Ala)
|
rs771205798
|
|
NM_015512.5(DNAH1):c.11078A>C (p.Glu3693Ala)
|
|
|
NM_015512.5(DNAH1):c.11120A>T (p.Gln3707Leu)
|
rs1338847535
|
|
NM_015512.5(DNAH1):c.1114G>A (p.Ala372Thr)
|
|
|
NM_015512.5(DNAH1):c.11162T>C (p.Ile3721Thr)
|
|
|
NM_015512.5(DNAH1):c.11234T>A (p.Leu3745His)
|
|
|
NM_015512.5(DNAH1):c.11284C>T (p.Leu3762Phe)
|
rs1578206910
|
|
NM_015512.5(DNAH1):c.11359C>T (p.Arg3787Cys)
|
|
|
NM_015512.5(DNAH1):c.11420C>T (p.Ser3807Phe)
|
|
|
NM_015512.5(DNAH1):c.11428A>G (p.Lys3810Glu)
|
|
|
NM_015512.5(DNAH1):c.11436G>T (p.Met3812Ile)
|
|
|
NM_015512.5(DNAH1):c.1144C>T (p.Arg382Cys)
|
|
|
NM_015512.5(DNAH1):c.11494C>A (p.Arg3832Ser)
|
rs200962458
|
|
NM_015512.5(DNAH1):c.11551C>T (p.Arg3851Cys)
|
|
|
NM_015512.5(DNAH1):c.11557T>G (p.Cys3853Gly)
|
|
|
NM_015512.5(DNAH1):c.11558G>C (p.Cys3853Ser)
|
rs767788052
|
|
NM_015512.5(DNAH1):c.11572A>G (p.Lys3858Glu)
|
|
|
NM_015512.5(DNAH1):c.11573A>G (p.Lys3858Arg)
|
rs1578207734
|
|
NM_015512.5(DNAH1):c.1162C>A (p.Leu388Met)
|
rs1578085496
|
|
NM_015512.5(DNAH1):c.11650C>T (p.Arg3884Cys)
|
|
|
NM_015512.5(DNAH1):c.11651G>A (p.Arg3884His)
|
|
|
NM_015512.5(DNAH1):c.11671C>G (p.Arg3891Gly)
|
rs774152723
|
|
NM_015512.5(DNAH1):c.11672G>A (p.Arg3891Gln)
|
|
|
NM_015512.5(DNAH1):c.11675_11676delinsCT (p.Arg3892Pro)
|
rs1559576250
|
|
NM_015512.5(DNAH1):c.11768C>T (p.Pro3923Leu)
|
|
|
NM_015512.5(DNAH1):c.11779G>A (p.Asp3927Asn)
|
|
|
NM_015512.5(DNAH1):c.11798C>T (p.Ser3933Phe)
|
|
|
NM_015512.5(DNAH1):c.11855A>G (p.Asn3952Ser)
|
|
|
NM_015512.5(DNAH1):c.11863A>G (p.Ile3955Val)
|
rs2153225833
|
|
NM_015512.5(DNAH1):c.11958+4G>T
|
|
|
NM_015512.5(DNAH1):c.11958+5G>A
|
|
|
NM_015512.5(DNAH1):c.12005C>T (p.Pro4002Leu)
|
|
|
NM_015512.5(DNAH1):c.12007A>G (p.Ile4003Val)
|
|
|
NM_015512.5(DNAH1):c.12021G>C (p.Trp4007Cys)
|
rs1419113342
|
|
NM_015512.5(DNAH1):c.1204G>A (p.Gly402Ser)
|
|
|
NM_015512.5(DNAH1):c.12090-10G>A
|
rs1553643566
|
|
NM_015512.5(DNAH1):c.12118C>A (p.Gln4040Lys)
|
|
|
NM_015512.5(DNAH1):c.12148A>C (p.Lys4050Gln)
|
|
|
NM_015512.5(DNAH1):c.12151G>T (p.Gly4051Trp)
|
rs2153225875
|
|
NM_015512.5(DNAH1):c.12245C>T (p.Ser4082Leu)
|
|
|
NM_015512.5(DNAH1):c.12355_12356delinsCC (p.Phe4119Pro)
|
rs1704782639
|
|
NM_015512.5(DNAH1):c.12380C>T (p.Thr4127Ile)
|
rs548795920
|
|
NM_015512.5(DNAH1):c.12398G>A (p.Arg4133His)
|
|
|
NM_015512.5(DNAH1):c.12454G>A (p.Ala4152Thr)
|
|
|
NM_015512.5(DNAH1):c.124C>A (p.Leu42Ile)
|
|
|
NM_015512.5(DNAH1):c.12510C>A (p.Phe4170Leu)
|
|
|
NM_015512.5(DNAH1):c.1255C>G (p.Leu419Val)
|
rs1386162482
|
|
NM_015512.5(DNAH1):c.12578C>T (p.Thr4193Ile)
|
|
|
NM_015512.5(DNAH1):c.12585G>A (p.Met4195Ile)
|
|
|
NM_015512.5(DNAH1):c.12589G>A (p.Val4197Ile)
|
|
|
NM_015512.5(DNAH1):c.12595T>C (p.Trp4199Arg)
|
rs1578213024
|
|
NM_015512.5(DNAH1):c.12605C>T (p.Pro4202Leu)
|
rs2153225921
|
|
NM_015512.5(DNAH1):c.12659A>G (p.Lys4220Arg)
|
|
|
NM_015512.5(DNAH1):c.1265C>T (p.Pro422Leu)
|
rs568165971
|
|
NM_015512.5(DNAH1):c.12664C>G (p.Leu4222Val)
|
|
|
NM_015512.5(DNAH1):c.1270A>T (p.Met424Leu)
|
|
|
NM_015512.5(DNAH1):c.12721G>A (p.Val4241Met)
|
rs1455402786
|
|
NM_015512.5(DNAH1):c.1274G>A (p.Arg425His)
|
rs200951874
|
|
NM_015512.5(DNAH1):c.1274G>T (p.Arg425Leu)
|
rs200951874
|
|
NM_015512.5(DNAH1):c.1339C>T (p.Arg447Cys)
|
|
|
NM_015512.5(DNAH1):c.1387G>A (p.Glu463Lys)
|
|
|
NM_015512.5(DNAH1):c.1394_1396del (p.Phe465del)
|
|
|
NM_015512.5(DNAH1):c.13A>C (p.Asn5His)
|
|
|
NM_015512.5(DNAH1):c.1417A>G (p.Lys473Glu)
|
|
|
NM_015512.5(DNAH1):c.143G>A (p.Gly48Glu)
|
|
|
NM_015512.5(DNAH1):c.1479G>T (p.Glu493Asp)
|
|
|
NM_015512.5(DNAH1):c.151A>G (p.Asn51Asp)
|
|
|
NM_015512.5(DNAH1):c.1601C>T (p.Ser534Phe)
|
|
|
NM_015512.5(DNAH1):c.1612C>G (p.His538Asp)
|
|
|
NM_015512.5(DNAH1):c.1652C>T (p.Ser551Phe)
|
|
|
NM_015512.5(DNAH1):c.1664T>C (p.Met555Thr)
|
rs1553631684
|
|
NM_015512.5(DNAH1):c.1667T>C (p.Phe556Ser)
|
rs888102573
|
|
NM_015512.5(DNAH1):c.1708C>A (p.Arg570Ser)
|
rs184765148
|
|
NM_015512.5(DNAH1):c.1709G>T (p.Arg570Leu)
|
rs771126013
|
|
NM_015512.5(DNAH1):c.170C>T (p.Pro57Leu)
|
rs1559485379
|
|
NM_015512.5(DNAH1):c.1774C>T (p.Leu592Phe)
|
rs764900562
|
|
NM_015512.5(DNAH1):c.17G>A (p.Ser6Asn)
|
rs2153222741
|
|
NM_015512.5(DNAH1):c.1814A>G (p.Tyr605Cys)
|
rs374932504
|
|
NM_015512.5(DNAH1):c.1823A>G (p.Gln608Arg)
|
|
|
NM_015512.5(DNAH1):c.1834C>T (p.Arg612Cys)
|
rs762421307
|
|
NM_015512.5(DNAH1):c.1946G>T (p.Ser649Ile)
|
|
|
NM_015512.5(DNAH1):c.1955+12C>T
|
|
|
NM_015512.5(DNAH1):c.1955+17C>T
|
|
|
NM_015512.5(DNAH1):c.1958C>T (p.Pro653Leu)
|
|
|
NM_015512.5(DNAH1):c.2042C>A (p.Ala681Glu)
|
|
|
NM_015512.5(DNAH1):c.2065A>G (p.Lys689Glu)
|
rs2153223860
|
|
NM_015512.5(DNAH1):c.2087C>A (p.Ala696Asp)
|
|
|
NM_015512.5(DNAH1):c.2089G>A (p.Val697Met)
|
|
|
NM_015512.5(DNAH1):c.2106+3A>G
|
rs1702215639
|
|
NM_015512.5(DNAH1):c.2115G>A (p.Met705Ile)
|
|
|
NM_015512.5(DNAH1):c.2170C>T (p.Pro724Ser)
|
rs762121402
|
|
NM_015512.5(DNAH1):c.2195C>T (p.Thr732Ile)
|
|
|
NM_015512.5(DNAH1):c.2284A>T (p.Ile762Phe)
|
|
|
NM_015512.5(DNAH1):c.2290T>G (p.Ser764Ala)
|
|
|
NM_015512.5(DNAH1):c.2312C>T (p.Thr771Met)
|
|
|
NM_015512.5(DNAH1):c.2335G>A (p.Val779Met)
|
rs776836168
|
|
NM_015512.5(DNAH1):c.2337_2338delinsTT (p.Arg780Trp)
|
rs2153223904
|
|
NM_015512.5(DNAH1):c.2365G>A (p.Glu789Lys)
|
rs1578117834
|
|
NM_015512.5(DNAH1):c.2387C>T (p.Ser796Leu)
|
|
|
NM_015512.5(DNAH1):c.2422A>G (p.Ile808Val)
|
|
|
NM_015512.5(DNAH1):c.2480C>A (p.Ser827Tyr)
|
|
|
NM_015512.5(DNAH1):c.2497G>A (p.Ala833Thr)
|
|
|
NM_015512.5(DNAH1):c.2512A>G (p.Lys838Glu)
|
rs1578118270
|
|
NM_015512.5(DNAH1):c.2517G>C (p.Glu839Asp)
|
|
|
NM_015512.5(DNAH1):c.2531G>T (p.Cys844Phe)
|
rs780729738
|
|
NM_015512.5(DNAH1):c.2546G>A (p.Ser849Asn)
|
rs1421170448
|
|
NM_015512.5(DNAH1):c.2553C>A (p.Ser851Arg)
|
|
|
NM_015512.5(DNAH1):c.2555G>A (p.Arg852His)
|
rs749833949
|
|
NM_015512.5(DNAH1):c.2603G>A (p.Arg868Gln)
|
|
|
NM_015512.5(DNAH1):c.2624C>T (p.Pro875Leu)
|
|
|
NM_015512.5(DNAH1):c.2645A>G (p.Glu882Gly)
|
|
|
NM_015512.5(DNAH1):c.2650C>T (p.Arg884Trp)
|
|
|
NM_015512.5(DNAH1):c.2651G>A (p.Arg884Gln)
|
|
|
NM_015512.5(DNAH1):c.2689G>A (p.Glu897Lys)
|
rs2153223965
|
|
NM_015512.5(DNAH1):c.2721C>G (p.Phe907Leu)
|
rs1702334172
|
|
NM_015512.5(DNAH1):c.2722A>G (p.Asn908Asp)
|
rs1416177113
|
|
NM_015512.5(DNAH1):c.2749C>T (p.Pro917Ser)
|
|
|
NM_015512.5(DNAH1):c.2809A>G (p.Lys937Glu)
|
|
|
NM_015512.5(DNAH1):c.2938C>T (p.Arg980Trp)
|
|
|
NM_015512.5(DNAH1):c.2942G>A (p.Arg981His)
|
|
|
NM_015512.5(DNAH1):c.2989A>G (p.Asn997Asp)
|
rs2153224041
|
|
NM_015512.5(DNAH1):c.2992A>G (p.Asn998Asp)
|
rs1042476924
|
|
NM_015512.5(DNAH1):c.2995C>T (p.Arg999Cys)
|
|
|
NM_015512.5(DNAH1):c.3002G>A (p.Arg1001His)
|
rs200640418
|
|
NM_015512.5(DNAH1):c.3026A>G (p.Asn1009Ser)
|
|
|
NM_015512.5(DNAH1):c.304C>T (p.Leu102Phe)
|
rs779382795
|
|
NM_015512.5(DNAH1):c.3114G>T (p.Glu1038Asp)
|
|
|
NM_015512.5(DNAH1):c.3128A>T (p.Asp1043Val)
|
|
|
NM_015512.5(DNAH1):c.3131C>A (p.Pro1044His)
|
rs748968242
|
|
NM_015512.5(DNAH1):c.3191T>C (p.Met1064Thr)
|
rs1702469409
|
|
NM_015512.5(DNAH1):c.3226+6G>A
|
|
|
NM_015512.5(DNAH1):c.3242C>T (p.Ala1081Val)
|
|
|
NM_015512.5(DNAH1):c.3253C>T (p.Arg1085Trp)
|
rs199955529
|
|
NM_015512.5(DNAH1):c.3260G>A (p.Arg1087His)
|
rs145381093
|
|
NM_015512.5(DNAH1):c.3260G>T (p.Arg1087Leu)
|
rs145381093
|
|
NM_015512.5(DNAH1):c.3262A>T (p.Ile1088Phe)
|
rs1432582836
|
|
NM_015512.5(DNAH1):c.3325C>T (p.Arg1109Trp)
|
|
|
NM_015512.5(DNAH1):c.3353T>C (p.Ile1118Thr)
|
rs1702483838
|
|
NM_015512.5(DNAH1):c.3356A>G (p.Asn1119Ser)
|
|
|
NM_015512.5(DNAH1):c.3376G>A (p.Ala1126Thr)
|
|
|
NM_015512.5(DNAH1):c.3392C>A (p.Ala1131Asp)
|
rs1553633502
|
|
NM_015512.5(DNAH1):c.3431_3432delinsAT (p.Ser1144Asn)
|
rs1702487234
|
|
NM_015512.5(DNAH1):c.3458G>A (p.Gly1153Asp)
|
|
|
NM_015512.5(DNAH1):c.3480+4G>A
|
|
|
NM_015512.5(DNAH1):c.3621G>A (p.Met1207Ile)
|
rs1212078010
|
|
NM_015512.5(DNAH1):c.3649G>C (p.Glu1217Gln)
|
rs1578130175
|
|
NM_015512.5(DNAH1):c.3656G>A (p.Arg1219His)
|
|
|
NM_015512.5(DNAH1):c.3669G>C (p.Trp1223Cys)
|
|
|
NM_015512.5(DNAH1):c.3693+4G>A
|
|
|
NM_015512.5(DNAH1):c.3725G>A (p.Arg1242Gln)
|
rs574664508
|
|
NM_015512.5(DNAH1):c.3725G>C (p.Arg1242Pro)
|
rs574664508
|
|
NM_015512.5(DNAH1):c.3740T>A (p.Leu1247Gln)
|
|
|
NM_015512.5(DNAH1):c.3762G>T (p.Glu1254Asp)
|
|
|
NM_015512.5(DNAH1):c.3854G>A (p.Arg1285Gln)
|
|
|
NM_015512.5(DNAH1):c.3868G>C (p.Val1290Leu)
|
|
|
NM_015512.5(DNAH1):c.3888G>C (p.Met1296Ile)
|
|
|
NM_015512.5(DNAH1):c.389A>G (p.Asp130Gly)
|
|
|
NM_015512.5(DNAH1):c.3945C>T (p.Ser1315=)
|
|
|
NM_015512.5(DNAH1):c.3946G>A (p.Glu1316Lys)
|
|
|
NM_015512.5(DNAH1):c.3970G>A (p.Ala1324Thr)
|
rs749595549
|
|
NM_015512.5(DNAH1):c.3977C>G (p.Pro1326Arg)
|
|
|
NM_015512.5(DNAH1):c.3980+4G>C
|
rs1327933716
|
|
NM_015512.5(DNAH1):c.3980+6C>T
|
|
|
NM_015512.5(DNAH1):c.4001A>G (p.Asp1334Gly)
|
|
|
NM_015512.5(DNAH1):c.4015A>G (p.Ile1339Val)
|
|
|
NM_015512.5(DNAH1):c.4040C>T (p.Thr1347Met)
|
|
|
NM_015512.5(DNAH1):c.4052C>T (p.Pro1351Leu)
|
|
|
NM_015512.5(DNAH1):c.406+16G>A
|
|
|
NM_015512.5(DNAH1):c.406+6T>A
|
rs1701242021
|
|
NM_015512.5(DNAH1):c.4060C>T (p.Arg1354Cys)
|
|
|
NM_015512.5(DNAH1):c.4061G>A (p.Arg1354His)
|
|
|
NM_015512.5(DNAH1):c.4080C>G (p.Ile1360Met)
|
|
|
NM_015512.5(DNAH1):c.4085_4086delinsTT (p.Arg1362Leu)
|
rs1559525094
|
|
NM_015512.5(DNAH1):c.408C>A (p.Val136=)
|
rs368577542
|
|
NM_015512.5(DNAH1):c.4120A>G (p.Met1374Val)
|
|
|
NM_015512.5(DNAH1):c.4134G>C (p.Glu1378Asp)
|
|
|
NM_015512.5(DNAH1):c.4134G>T (p.Glu1378Asp)
|
rs759023536
|
|
NM_015512.5(DNAH1):c.4168C>T (p.Pro1390Ser)
|
rs552886396
|
|
NM_015512.5(DNAH1):c.4180G>A (p.Val1394Met)
|
|
|
NM_015512.5(DNAH1):c.4246G>A (p.Ala1416Thr)
|
|
|
NM_015512.5(DNAH1):c.4276A>G (p.Thr1426Ala)
|
rs2153224279
|
|
NM_015512.5(DNAH1):c.4371C>A (p.Asn1457Lys)
|
|
|
NM_015512.5(DNAH1):c.4384C>G (p.Leu1462Val)
|
rs1346446833
|
|
NM_015512.5(DNAH1):c.4390C>T (p.Pro1464Ser)
|
|
|
NM_015512.5(DNAH1):c.443G>A (p.Arg148His)
|
|
|
NM_015512.5(DNAH1):c.4472C>T (p.Ala1491Val)
|
rs369943421
|
|
NM_015512.5(DNAH1):c.4477A>G (p.Ile1493Val)
|
rs375805820
|
|
NM_015512.5(DNAH1):c.447G>A (p.Met149Ile)
|
|
|
NM_015512.5(DNAH1):c.4509G>A (p.Val1503=)
|
|
|
NM_015512.5(DNAH1):c.4540G>A (p.Val1514Met)
|
|
|
NM_015512.5(DNAH1):c.4571+3G>C
|
rs2153224314
|
|
NM_015512.5(DNAH1):c.4577A>C (p.Tyr1526Ser)
|
rs2153224324
|
|
NM_015512.5(DNAH1):c.4583C>T (p.Thr1528Ile)
|
|
|
NM_015512.5(DNAH1):c.4604G>A (p.Arg1535His)
|
|
|
NM_015512.5(DNAH1):c.4609G>A (p.Val1537Met)
|
|
|
NM_015512.5(DNAH1):c.460A>C (p.Ile154Leu)
|
|
|
NM_015512.5(DNAH1):c.4619A>G (p.Glu1540Gly)
|
rs1702803990
|
|
NM_015512.5(DNAH1):c.4624A>G (p.Ile1542Val)
|
rs774128104
|
|
NM_015512.5(DNAH1):c.4654G>C (p.Gly1552Arg)
|
rs1702805434
|
|
NM_015512.5(DNAH1):c.4686-3C>A
|
rs1268954616
|
|
NM_015512.5(DNAH1):c.469A>G (p.Thr157Ala)
|
|
|
NM_015512.5(DNAH1):c.4721A>G (p.Lys1574Arg)
|
|
|
NM_015512.5(DNAH1):c.4735CCAGCTGGC[1] (p.1579PAG[1])
|
|
|
NM_015512.5(DNAH1):c.476G>A (p.Arg159Gln)
|
|
|
NM_015512.5(DNAH1):c.4772C>T (p.Thr1591Ile)
|
rs1559529321
|
|
NM_015512.5(DNAH1):c.4798A>G (p.Ile1600Val)
|
rs2153224368
|
|
NM_015512.5(DNAH1):c.481C>T (p.Leu161Phe)
|
|
|
NM_015512.5(DNAH1):c.4848G>A (p.Met1616Ile)
|
|
|
NM_015512.5(DNAH1):c.485C>A (p.Ala162Asp)
|
rs993782683
|
|
NM_015512.5(DNAH1):c.4874+5G>A
|
rs1282136699
|
|
NM_015512.5(DNAH1):c.4905C>G (p.Phe1635Leu)
|
|
|
NM_015512.5(DNAH1):c.490A>G (p.Thr164Ala)
|
rs754602688
|
|
NM_015512.5(DNAH1):c.4921G>C (p.Glu1641Gln)
|
rs754476644
|
|
NM_015512.5(DNAH1):c.4978C>T (p.Arg1660Trp)
|
|
|
NM_015512.5(DNAH1):c.4979G>A (p.Arg1660Gln)
|
|
|
NM_015512.5(DNAH1):c.4987C>G (p.Arg1663Gly)
|
rs17052097
|
|
NM_015512.5(DNAH1):c.4990T>G (p.Phe1664Val)
|
|
|
NM_015512.5(DNAH1):c.4995G>A (p.Met1665Ile)
|
rs1702900648
|
|
NM_015512.5(DNAH1):c.5024C>T (p.Pro1675Leu)
|
|
|
NM_015512.5(DNAH1):c.5072C>T (p.Thr1691Met)
|
|
|
NM_015512.5(DNAH1):c.5094+2C>T
|
rs1578143757
|
|
NM_015512.5(DNAH1):c.5122G>A (p.Val1708Ile)
|
|
|
NM_015512.5(DNAH1):c.5134G>A (p.Ala1712Thr)
|
|
|
NM_015512.5(DNAH1):c.5156T>A (p.Leu1719His)
|
|
|
NM_015512.5(DNAH1):c.5172T>G (p.Phe1724Leu)
|
|
|
NM_015512.5(DNAH1):c.5221T>G (p.Ser1741Ala)
|
rs1010766404
|
|
NM_015512.5(DNAH1):c.5225C>T (p.Ser1742Phe)
|
|
|
NM_015512.5(DNAH1):c.5255A>T (p.Asp1752Val)
|
rs1702994653
|
|
NM_015512.5(DNAH1):c.529G>A (p.Val177Met)
|
|
|
NM_015512.5(DNAH1):c.5320A>T (p.Ser1774Cys)
|
|
|
NM_015512.5(DNAH1):c.5331G>A (p.Glu1777=)
|
|
|
NM_015512.5(DNAH1):c.5348G>T (p.Arg1783Leu)
|
rs371787188
|
|
NM_015512.5(DNAH1):c.5368G>A (p.Val1790Met)
|
rs951278557
|
|
NM_015512.5(DNAH1):c.5384A>G (p.Gln1795Arg)
|
rs1578147447
|
|
NM_015512.5(DNAH1):c.5407G>A (p.Gly1803Ser)
|
|
|
NM_015512.5(DNAH1):c.5439G>A (p.Lys1813=)
|
rs1559533989
|
|
NM_015512.5(DNAH1):c.5479C>T (p.Arg1827Cys)
|
rs765753155
|
|
NM_015512.5(DNAH1):c.5493G>T (p.Arg1831Ser)
|
rs1294029143
|
|
NM_015512.5(DNAH1):c.5507A>G (p.Lys1836Arg)
|
rs2153224495
|
|
NM_015512.5(DNAH1):c.551G>A (p.Gly184Asp)
|
|
|
NM_015512.5(DNAH1):c.5581G>A (p.Val1861Ile)
|
|
|
NM_015512.5(DNAH1):c.5584G>C (p.Gly1862Arg)
|
rs374197097
|
|
NM_015512.5(DNAH1):c.562C>G (p.Arg188Gly)
|
rs368210345
|
|
NM_015512.5(DNAH1):c.5635A>G (p.Met1879Val)
|
rs1703093178
|
|
NM_015512.5(DNAH1):c.563G>A (p.Arg188His)
|
|
|
NM_015512.5(DNAH1):c.5737G>A (p.Gly1913Arg)
|
rs759559439
|
|
NM_015512.5(DNAH1):c.5799G>A (p.Ala1933=)
|
|
|
NM_015512.5(DNAH1):c.5804C>A (p.Ala1935Asp)
|
|
|
NM_015512.5(DNAH1):c.5845G>A (p.Gly1949Arg)
|
|
|
NM_015512.5(DNAH1):c.5889_5890delinsCT (p.Asp1964Tyr)
|
rs1703197233
|
|
NM_015512.5(DNAH1):c.5938A>T (p.Thr1980Ser)
|
|
|
NM_015512.5(DNAH1):c.5944G>C (p.Ala1982Pro)
|
rs1703246950
|
|
NM_015512.5(DNAH1):c.5977G>A (p.Ala1993Thr)
|
|
|
NM_015512.5(DNAH1):c.5993C>G (p.Ala1998Gly)
|
rs1553637044
|
|
NM_015512.5(DNAH1):c.6004C>T (p.Arg2002Cys)
|
|
|
NM_015512.5(DNAH1):c.6013A>G (p.Met2005Val)
|
rs1673807203
|
|
NM_015512.5(DNAH1):c.6014T>C (p.Met2005Thr)
|
|
|
NM_015512.5(DNAH1):c.6028C>G (p.Pro2010Ala)
|
rs2153224678
|
|
NM_015512.5(DNAH1):c.6031A>G (p.Ser2011Gly)
|
rs1703253036
|
|
NM_015512.5(DNAH1):c.6098A>G (p.Tyr2033Cys)
|
|
|
NM_015512.5(DNAH1):c.6104A>G (p.Glu2035Gly)
|
rs886826688
|
|
NM_015512.5(DNAH1):c.6145A>G (p.Ile2049Val)
|
|
|
NM_015512.5(DNAH1):c.6153C>T (p.Phe2051=)
|
|
|
NM_015512.5(DNAH1):c.618G>C (p.Gln206His)
|
|
|
NM_015512.5(DNAH1):c.6197A>C (p.Asn2066Thr)
|
|
|
NM_015512.5(DNAH1):c.6203C>G (p.Thr2068Ser)
|
rs138341550
|
|
NM_015512.5(DNAH1):c.6214C>T (p.Leu2072Phe)
|
rs866023654
|
|
NM_015512.5(DNAH1):c.6240G>C (p.Lys2080Asn)
|
rs1302883143
|
|
NM_015512.5(DNAH1):c.6267G>C (p.Lys2089Asn)
|
|
|
NM_015512.5(DNAH1):c.6278C>T (p.Ser2093Phe)
|
rs2153224713
|
|
NM_015512.5(DNAH1):c.6297C>G (p.Ile2099Met)
|
rs377060183
|
|
NM_015512.5(DNAH1):c.6298G>A (p.Val2100Ile)
|
|
|
NM_015512.5(DNAH1):c.6313C>T (p.Pro2105Ser)
|
rs780811972
|
|
NM_015512.5(DNAH1):c.6371G>A (p.Arg2124His)
|
rs748843812
|
|
NM_015512.5(DNAH1):c.6377G>A (p.Ser2126Asn)
|
rs2153224717
|
|
NM_015512.5(DNAH1):c.6427C>T (p.Leu2143Phe)
|
rs2153224723
|
|
NM_015512.5(DNAH1):c.6430T>C (p.Phe2144Leu)
|
rs768096962
|
|
NM_015512.5(DNAH1):c.6485G>C (p.Gly2162Ala)
|
|
|
NM_015512.5(DNAH1):c.6511G>A (p.Glu2171Lys)
|
|
|
NM_015512.5(DNAH1):c.6525+5C>T
|
|
|
NM_015512.5(DNAH1):c.6558_6559delinsCT (p.Pro2187Ser)
|
rs1578161696
|
|
NM_015512.5(DNAH1):c.6632A>G (p.His2211Arg)
|
|
|
NM_015512.5(DNAH1):c.6666C>A (p.Pro2222=)
|
rs766093116
|
|
NM_015512.5(DNAH1):c.6666C>T (p.Pro2222=)
|
|
|
NM_015512.5(DNAH1):c.6707C>T (p.Thr2236Ile)
|
|
|
NM_015512.5(DNAH1):c.6721C>T (p.Leu2241Phe)
|
rs2153224787
|
|
NM_015512.5(DNAH1):c.6788A>C (p.Asn2263Thr)
|
rs140407922
|
|
NM_015512.5(DNAH1):c.67G>T (p.Ala23Ser)
|
|
|
NM_015512.5(DNAH1):c.6822C>G (p.Asp2274Glu)
|
|
|
NM_015512.5(DNAH1):c.6827+6G>T
|
|
|
NM_015512.5(DNAH1):c.6827G>A (p.Arg2276Lys)
|
|
|
NM_015512.5(DNAH1):c.6828-6C>G
|
|
|
NM_015512.5(DNAH1):c.6841T>C (p.Phe2281Leu)
|
|
|
NM_015512.5(DNAH1):c.6851C>T (p.Pro2284Leu)
|
|
|
NM_015512.5(DNAH1):c.6895C>G (p.Pro2299Ala)
|
|
|
NM_015512.5(DNAH1):c.6940C>T (p.Arg2314Cys)
|
|
|
NM_015512.5(DNAH1):c.6941G>T (p.Arg2314Leu)
|
rs759815756
|
|
NM_015512.5(DNAH1):c.694G>A (p.Glu232Lys)
|
rs1701363470
|
|
NM_015512.5(DNAH1):c.6970G>A (p.Asp2324Asn)
|
|
|
NM_015512.5(DNAH1):c.6971A>G (p.Asp2324Gly)
|
rs1559544611
|
|
NM_015512.5(DNAH1):c.6974G>A (p.Arg2325His)
|
rs777773562
|
|
NM_015512.5(DNAH1):c.6995A>G (p.Lys2332Arg)
|
|
|
NM_015512.5(DNAH1):c.7000C>A (p.Leu2334Ile)
|
rs781069826
|
|
NM_015512.5(DNAH1):c.7034C>A (p.Pro2345His)
|
|
|
NM_015512.5(DNAH1):c.7037C>T (p.Pro2346Leu)
|
|
|
NM_015512.5(DNAH1):c.7072A>T (p.Met2358Leu)
|
rs1578169078
|
|
NM_015512.5(DNAH1):c.7075C>G (p.Arg2359Gly)
|
|
|
NM_015512.5(DNAH1):c.7075C>T (p.Arg2359Cys)
|
|
|
NM_015512.5(DNAH1):c.709C>G (p.Pro237Ala)
|
|
|
NM_015512.5(DNAH1):c.7111G>A (p.Glu2371Lys)
|
|
|
NM_015512.5(DNAH1):c.7147G>T (p.Gly2383Cys)
|
|
|
NM_015512.5(DNAH1):c.7148G>A (p.Gly2383Asp)
|
|
|
NM_015512.5(DNAH1):c.7192C>T (p.Arg2398Cys)
|
|
|
NM_015512.5(DNAH1):c.7211A>G (p.His2404Arg)
|
rs755472021
|
|
NM_015512.5(DNAH1):c.7226C>T (p.Thr2409Met)
|
|
|
NM_015512.5(DNAH1):c.7310C>T (p.Thr2437Ile)
|
rs200196097
|
|
NM_015512.5(DNAH1):c.7334A>G (p.Lys2445Arg)
|
|
|
NM_015512.5(DNAH1):c.7348A>G (p.Met2450Val)
|
|
|
NM_015512.5(DNAH1):c.7366G>A (p.Ala2456Thr)
|
|
|
NM_015512.5(DNAH1):c.7377+17C>T
|
rs758941523
|
|
NM_015512.5(DNAH1):c.738+3G>A
|
rs2153223050
|
|
NM_015512.5(DNAH1):c.7423G>A (p.Val2475Met)
|
|
|
NM_015512.5(DNAH1):c.7430G>A (p.Arg2477Gln)
|
rs200350050
|
|
NM_015512.5(DNAH1):c.7456C>A (p.Arg2486Ser)
|
rs755633690
|
|
NM_015512.5(DNAH1):c.7456C>T (p.Arg2486Cys)
|
|
|
NM_015512.5(DNAH1):c.7513A>C (p.Asn2505His)
|
|
|
NM_015512.5(DNAH1):c.752A>G (p.Glu251Gly)
|
|
|
NM_015512.5(DNAH1):c.7618G>A (p.Val2540Met)
|
rs372646577
|
|
NM_015512.5(DNAH1):c.7633A>G (p.Ile2545Val)
|
|
|
NM_015512.5(DNAH1):c.766C>T (p.Arg256Trp)
|
|
|
NM_015512.5(DNAH1):c.7736T>C (p.Leu2579Pro)
|
|
|
NM_015512.5(DNAH1):c.773C>T (p.Pro258Leu)
|
|
|
NM_015512.5(DNAH1):c.7745C>T (p.Ala2582Val)
|
|
|
NM_015512.5(DNAH1):c.7747C>G (p.Leu2583Val)
|
rs1578180369
|
|
NM_015512.5(DNAH1):c.7748T>A (p.Leu2583His)
|
|
|
NM_015512.5(DNAH1):c.7774C>G (p.Arg2592Gly)
|
rs983098291
|
|
NM_015512.5(DNAH1):c.7795G>A (p.Ala2599Thr)
|
rs377213436
|
|
NM_015512.5(DNAH1):c.7795G>T (p.Ala2599Ser)
|
rs377213436
|
|
NM_015512.5(DNAH1):c.7799C>T (p.Ser2600Leu)
|
|
|
NM_015512.5(DNAH1):c.7804A>G (p.Met2602Val)
|
rs1461371514
|
|
NM_015512.5(DNAH1):c.7805+12_7805+13inv
|
|
|
NM_015512.5(DNAH1):c.7810G>A (p.Glu2604Lys)
|
|
|
NM_015512.5(DNAH1):c.7828A>G (p.Ile2610Val)
|
|
|
NM_015512.5(DNAH1):c.7833A>C (p.Glu2611Asp)
|
|
|
NM_015512.5(DNAH1):c.7859A>G (p.Glu2620Gly)
|
rs865882866
|
|
NM_015512.5(DNAH1):c.7905G>C (p.Gln2635His)
|
rs1703891928
|
|
NM_015512.5(DNAH1):c.7915A>C (p.Ile2639Leu)
|
|
|
NM_015512.5(DNAH1):c.7973A>G (p.Asn2658Ser)
|
|
|
NM_015512.5(DNAH1):c.797T>C (p.Leu266Ser)
|
|
|
NM_015512.5(DNAH1):c.8032A>C (p.Ile2678Leu)
|
|
|
NM_015512.5(DNAH1):c.8099C>G (p.Ala2700Gly)
|
rs776888791
|
|
NM_015512.5(DNAH1):c.8113C>G (p.Arg2705Gly)
|
|
|
NM_015512.5(DNAH1):c.8173G>C (p.Ala2725Pro)
|
|
|
NM_015512.5(DNAH1):c.8186A>G (p.Gln2729Arg)
|
|
|
NM_015512.5(DNAH1):c.8191C>G (p.Pro2731Ala)
|
|
|
NM_015512.5(DNAH1):c.8230G>A (p.Glu2744Lys)
|
rs761944371
|
|
NM_015512.5(DNAH1):c.8246C>T (p.Ala2749Val)
|
rs373270594
|
|
NM_015512.5(DNAH1):c.8311A>G (p.Ile2771Val)
|
|
|
NM_015512.5(DNAH1):c.8315A>G (p.Gln2772Arg)
|
rs1703985238
|
|
NM_015512.5(DNAH1):c.8333G>A (p.Cys2778Tyr)
|
rs1176704045
|
|
NM_015512.5(DNAH1):c.8360A>G (p.Lys2787Arg)
|
|
|
NM_015512.5(DNAH1):c.8507T>G (p.Leu2836Arg)
|
|
|
NM_015512.5(DNAH1):c.8515C>G (p.Leu2839Val)
|
|
|
NM_015512.5(DNAH1):c.8567T>A (p.Met2856Lys)
|
rs1265332312
|
|
NM_015512.5(DNAH1):c.856G>A (p.Asp286Asn)
|
rs762043332
|
|
NM_015512.5(DNAH1):c.8605C>T (p.Leu2869Phe)
|
|
|
NM_015512.5(DNAH1):c.8617C>G (p.Gln2873Glu)
|
rs2153225318
|
|
NM_015512.5(DNAH1):c.8626G>C (p.Val2876Leu)
|
|
|
NM_015512.5(DNAH1):c.8641G>A (p.Ala2881Thr)
|
rs370257194
|
|
NM_015512.5(DNAH1):c.8641G>T (p.Ala2881Ser)
|
rs370257194
|
|
NM_015512.5(DNAH1):c.8653C>T (p.Arg2885Trp)
|
|
|
NM_015512.5(DNAH1):c.8678T>C (p.Ile2893Thr)
|
|
|
NM_015512.5(DNAH1):c.8768C>G (p.Ala2923Gly)
|
rs749858455
|
|
NM_015512.5(DNAH1):c.8782C>G (p.Arg2928Gly)
|
|
|
NM_015512.5(DNAH1):c.8782C>T (p.Arg2928Cys)
|
rs772814823
|
|
NM_015512.5(DNAH1):c.8811+4G>A
|
|
|
NM_015512.5(DNAH1):c.8819C>T (p.Ala2940Val)
|
rs1402907319
|
|
NM_015512.5(DNAH1):c.8842G>A (p.Val2948Met)
|
|
|
NM_015512.5(DNAH1):c.8867G>A (p.Cys2956Tyr)
|
rs1578189986
|
|
NM_015512.5(DNAH1):c.8877A>G (p.Lys2959=)
|
rs1553641002
|
|
NM_015512.5(DNAH1):c.8879G>C (p.Gly2960Ala)
|
rs780656736
|
|
NM_015512.5(DNAH1):c.887A>G (p.Gln296Arg)
|
|
|
NM_015512.5(DNAH1):c.8881A>G (p.Ile2961Val)
|
|
|
NM_015512.5(DNAH1):c.893T>G (p.Leu298Arg)
|
|
|
NM_015512.5(DNAH1):c.8966C>T (p.Pro2989Leu)
|
|
|
NM_015512.5(DNAH1):c.8968G>A (p.Gly2990Ser)
|
rs2153225369
|
|
NM_015512.5(DNAH1):c.8984G>C (p.Ser2995Thr)
|
|
|
NM_015512.5(DNAH1):c.9004-12T>G
|
|
|
NM_015512.5(DNAH1):c.9041C>T (p.Pro3014Leu)
|
|
|
NM_015512.5(DNAH1):c.9043T>C (p.Tyr3015His)
|
rs998821696
|
|
NM_015512.5(DNAH1):c.9054T>G (p.Asn3018Lys)
|
|
|
NM_015512.5(DNAH1):c.9083A>G (p.Lys3028Arg)
|
rs1704196167
|
|
NM_015512.5(DNAH1):c.9120G>A (p.Val3040=)
|
|
|
NM_015512.5(DNAH1):c.9143T>A (p.Phe3048Tyr)
|
|
|
NM_015512.5(DNAH1):c.9157G>A (p.Val3053Met)
|
rs781056727
|
|
NM_015512.5(DNAH1):c.916G>A (p.Gly306Ser)
|
|
|
NM_015512.5(DNAH1):c.9170G>A (p.Arg3057Gln)
|
|
|
NM_015512.5(DNAH1):c.9184G>C (p.Glu3062Gln)
|
rs1578193025
|
|
NM_015512.5(DNAH1):c.9244C>G (p.Arg3082Gly)
|
rs781114057
|
|
NM_015512.5(DNAH1):c.9259G>A (p.Gly3087Ser)
|
|
|
NM_015512.5(DNAH1):c.9373G>A (p.Gly3125Arg)
|
rs374687152
|
|
NM_015512.5(DNAH1):c.9391G>A (p.Val3131Met)
|
|
|
NM_015512.5(DNAH1):c.9394C>G (p.Arg3132Gly)
|
rs750820564
|
|
NM_015512.5(DNAH1):c.9427A>G (p.Met3143Val)
|
rs201358297
|
|
NM_015512.5(DNAH1):c.9428T>C (p.Met3143Thr)
|
|
|
NM_015512.5(DNAH1):c.9441C>G (p.Ile3147Met)
|
rs1402657419
|
|
NM_015512.5(DNAH1):c.9454C>G (p.Leu3152Val)
|
|
|
NM_015512.5(DNAH1):c.947T>A (p.Leu316Gln)
|
|
|
NM_015512.5(DNAH1):c.9494C>T (p.Thr3165Met)
|
|
|
NM_015512.5(DNAH1):c.9495G>A (p.Thr3165=)
|
|
|
NM_015512.5(DNAH1):c.9505C>G (p.Arg3169Gly)
|
rs185305129
|
|
NM_015512.5(DNAH1):c.9505C>T (p.Arg3169Cys)
|
rs185305129
|
|
NM_015512.5(DNAH1):c.9520G>A (p.Asp3174Asn)
|
|
|
NM_015512.5(DNAH1):c.9583G>A (p.Gly3195Arg)
|
|
|
NM_015512.5(DNAH1):c.9622-3_9622-2del
|
|
|
NM_015512.5(DNAH1):c.9622-9T>A
|
rs917308035
|
|
NM_015512.5(DNAH1):c.9640G>A (p.Asp3214Asn)
|
|
|
NM_015512.5(DNAH1):c.9655G>A (p.Glu3219Lys)
|
|
|
NM_015512.5(DNAH1):c.9675G>T (p.Gln3225His)
|
|
|
NM_015512.5(DNAH1):c.9700A>G (p.Ile3234Val)
|
rs1704350768
|
|
NM_015512.5(DNAH1):c.9723C>A (p.Asn3241Lys)
|
rs1704351714
|
|
NM_015512.5(DNAH1):c.9752A>G (p.Asn3251Ser)
|
|
|
NM_015512.5(DNAH1):c.9793C>T (p.Arg3265Cys)
|
rs368568444
|
|
NM_015512.5(DNAH1):c.9815G>A (p.Arg3272His)
|
|
|
NM_015512.5(DNAH1):c.9826C>A (p.Pro3276Thr)
|
|
|
NM_015512.5(DNAH1):c.9841A>G (p.Asn3281Asp)
|
rs756243834
|
|
NM_015512.5(DNAH1):c.9844G>A (p.Val3282Met)
|
|
|
NM_015512.5(DNAH1):c.9849C>T (p.Gly3283=)
|
rs749552811
|
|
NM_015512.5(DNAH1):c.9859G>C (p.Asp3287His)
|
rs2153225560
|
|
NM_015512.5(DNAH1):c.9914C>A (p.Thr3305Lys)
|
rs369765657
|
|
NM_015512.5(DNAH1):c.9926T>G (p.Leu3309Arg)
|
rs2153225570
|
|
NM_015512.5(DNAH1):c.9995A>T (p.His3332Leu)
|
|
|
NM_015631.6(TCTN3):c.1008C>G (p.Ile336Met)
|
|
|
NM_015631.6(TCTN3):c.1013A>G (p.Lys338Arg)
|
rs1206102625
|
|
NM_015631.6(TCTN3):c.101C>A (p.Thr34Lys)
|
|
|
NM_015631.6(TCTN3):c.1048G>A (p.Val350Ile)
|
|
|
NM_015631.6(TCTN3):c.1076A>G (p.His359Arg)
|
rs982781639
|
|
NM_015631.6(TCTN3):c.1079T>G (p.Phe360Cys)
|
|
|
NM_015631.6(TCTN3):c.107T>C (p.Leu36Ser)
|
|
|
NM_015631.6(TCTN3):c.1103A>C (p.Gln368Pro)
|
rs200742071
|
|
NM_015631.6(TCTN3):c.1133C>A (p.Pro378His)
|
|
|
NM_015631.6(TCTN3):c.1139G>C (p.Ser380Thr)
|
|
|
NM_015631.6(TCTN3):c.1160T>C (p.Val387Ala)
|
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NM_015631.6(TCTN3):c.1160T>G (p.Val387Gly)
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NM_015631.6(TCTN3):c.1163G>C (p.Gly388Ala)
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NM_015631.6(TCTN3):c.1176G>C (p.Leu392Phe)
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NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr)
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rs1432135827
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NM_015631.6(TCTN3):c.1189G>A (p.Asp397Asn)
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NM_015631.6(TCTN3):c.1192A>G (p.Ile398Val)
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NM_015631.6(TCTN3):c.1203+5C>T
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rs2139739478
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NM_015631.6(TCTN3):c.1203A>G (p.Ser401=)
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NM_015631.6(TCTN3):c.1210C>T (p.Leu404Phe)
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rs1008019391
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NM_015631.6(TCTN3):c.1213T>A (p.Leu405Ile)
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NM_015631.6(TCTN3):c.1224_1226del (p.Gln408_Gly409delinsHis)
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NM_015631.6(TCTN3):c.1232G>C (p.Gly411Ala)
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NM_015631.6(TCTN3):c.1238G>A (p.Cys413Tyr)
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rs2139738439
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NM_015631.6(TCTN3):c.1253A>G (p.His418Arg)
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NM_015631.6(TCTN3):c.1259T>G (p.Val420Gly)
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rs2139738378
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NM_015631.6(TCTN3):c.1298G>C (p.Arg433Thr)
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rs2139738242
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NM_015631.6(TCTN3):c.1348C>T (p.Leu450Phe)
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rs2139737228
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NM_015631.6(TCTN3):c.1361C>G (p.Pro454Arg)
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NM_015631.6(TCTN3):c.137C>T (p.Thr46Ile)
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NM_015631.6(TCTN3):c.1381A>G (p.Ile461Val)
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NM_015631.6(TCTN3):c.1402G>C (p.Ala468Pro)
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rs1218187792
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NM_015631.6(TCTN3):c.1415G>A (p.Gly472Glu)
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NM_015631.6(TCTN3):c.1417T>C (p.Trp473Arg)
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rs2097944204
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NM_015631.6(TCTN3):c.1421C>G (p.Thr474Ser)
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rs1190331074
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NM_015631.6(TCTN3):c.1438C>T (p.His480Tyr)
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NM_015631.6(TCTN3):c.1451C>T (p.Ser484Leu)
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rs2139736784
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NM_015631.6(TCTN3):c.1457T>A (p.Ile486Lys)
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rs2097942057
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NM_015631.6(TCTN3):c.1469C>T (p.Ser490Phe)
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NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs)
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rs1454064691
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NM_015631.6(TCTN3):c.1489T>G (p.Ser497Ala)
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NM_015631.6(TCTN3):c.1490C>G (p.Ser497Cys)
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NM_015631.6(TCTN3):c.1499T>C (p.Ile500Thr)
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NM_015631.6(TCTN3):c.1513G>A (p.Ala505Thr)
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NM_015631.6(TCTN3):c.1562G>A (p.Arg521Gln)
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NM_015631.6(TCTN3):c.1562G>C (p.Arg521Pro)
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rs765803620
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NM_015631.6(TCTN3):c.1564T>C (p.Phe522Leu)
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NM_015631.6(TCTN3):c.1575G>T (p.Gln525His)
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NM_015631.6(TCTN3):c.1576T>C (p.Cys526Arg)
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NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg)
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NM_015631.6(TCTN3):c.1583C>A (p.Ser528Tyr)
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NM_015631.6(TCTN3):c.1589A>G (p.Gln530Arg)
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rs1165507491
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NM_015631.6(TCTN3):c.1591G>A (p.Asp531Asn)
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NM_015631.6(TCTN3):c.1591G>T (p.Asp531Tyr)
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rs143735885
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NM_015631.6(TCTN3):c.1647del (p.Thr550fs)
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rs2139691832
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NM_015631.6(TCTN3):c.1660C>T (p.Gln554Ter)
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rs2139691743
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NM_015631.6(TCTN3):c.1669A>G (p.Arg557Gly)
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NM_015631.6(TCTN3):c.1688A>C (p.Asp563Ala)
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NM_015631.6(TCTN3):c.1707CTT[1] (p.Phe571del)
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NM_015631.6(TCTN3):c.1736G>A (p.Arg579Lys)
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rs1352225292
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NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu)
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rs1566062590
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NM_015631.6(TCTN3):c.1755A>T (p.Lys585Asn)
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NM_015631.6(TCTN3):c.1762G>A (p.Val588Ile)
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NM_015631.6(TCTN3):c.1766C>G (p.Ser589Cys)
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rs927310199
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NM_015631.6(TCTN3):c.1772T>C (p.Ile591Thr)
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NM_015631.6(TCTN3):c.1774C>T (p.Leu592Phe)
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NM_015631.6(TCTN3):c.1796T>G (p.Leu599Arg)
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rs1291662541
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NM_015631.6(TCTN3):c.17T>C (p.Leu6Pro)
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NM_015631.6(TCTN3):c.1816A>G (p.Thr606Ala)
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NM_015631.6(TCTN3):c.1819_1820del (p.Met607fs)
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NM_015631.6(TCTN3):c.191C>T (p.Pro64Leu)
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NM_015631.6(TCTN3):c.194C>T (p.Thr65Ile)
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rs2097955954
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NM_015631.6(TCTN3):c.245A>T (p.Asp82Val)
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rs2139768503
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NM_015631.6(TCTN3):c.256G>T (p.Val86Phe)
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NM_015631.6(TCTN3):c.265A>T (p.Ile89Phe)
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NM_015631.6(TCTN3):c.295T>C (p.Cys99Arg)
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NM_015631.6(TCTN3):c.301A>T (p.Ile101Leu)
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rs2139767336
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NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr)
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rs2139767280
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NM_015631.6(TCTN3):c.323A>G (p.Asp108Gly)
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NM_015631.6(TCTN3):c.361T>G (p.Cys121Gly)
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rs2139767099
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NM_015631.6(TCTN3):c.362G>C (p.Cys121Ser)
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rs1165732615
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NM_015631.6(TCTN3):c.367C>A (p.Pro123Thr)
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NM_015631.6(TCTN3):c.368C>G (p.Pro123Arg)
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rs1005806916
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NM_015631.6(TCTN3):c.390C>G (p.Ser130Arg)
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rs533262975
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NM_015631.6(TCTN3):c.393G>C (p.Trp131Cys)
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NM_015631.6(TCTN3):c.412G>A (p.Val138Ile)
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NM_015631.6(TCTN3):c.434C>T (p.Pro145Leu)
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rs1489817091
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NM_015631.6(TCTN3):c.455T>C (p.Met152Thr)
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rs2139764940
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NM_015631.6(TCTN3):c.476A>G (p.Gln159Arg)
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NM_015631.6(TCTN3):c.48C>A (p.Phe16Leu)
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NM_015631.6(TCTN3):c.491T>C (p.Val164Ala)
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rs1314557393
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NM_015631.6(TCTN3):c.510C>G (p.Asn170Lys)
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NM_015631.6(TCTN3):c.52G>A (p.Asp18Asn)
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rs2139769650
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NM_015631.6(TCTN3):c.536A>G (p.Asn179Ser)
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NM_015631.6(TCTN3):c.554C>T (p.Ala185Val)
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rs888815068
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NM_015631.6(TCTN3):c.56G>A (p.Gly19Asp)
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NM_015631.6(TCTN3):c.570T>G (p.Phe190Leu)
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NM_015631.6(TCTN3):c.593C>T (p.Thr198Ile)
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NM_015631.6(TCTN3):c.614C>T (p.Pro205Leu)
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rs2139750466
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NM_015631.6(TCTN3):c.61C>T (p.Arg21Trp)
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NM_015631.6(TCTN3):c.627+6C>G
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NM_015631.6(TCTN3):c.62G>T (p.Arg21Leu)
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rs1406986953
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NM_015631.6(TCTN3):c.670A>G (p.Ile224Val)
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NM_015631.6(TCTN3):c.707G>A (p.Gly236Glu)
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NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser)
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rs1555270274
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NM_015631.6(TCTN3):c.735A>G (p.Ala245=)
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rs2097949239
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NM_015631.6(TCTN3):c.755G>A (p.Ser252Asn)
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NM_015631.6(TCTN3):c.760A>G (p.Thr254Ala)
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NM_015631.6(TCTN3):c.769C>A (p.Arg257Ser)
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rs780304630
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NM_015631.6(TCTN3):c.780G>C (p.Lys260Asn)
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NM_015631.6(TCTN3):c.82C>G (p.Pro28Ala)
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NM_015631.6(TCTN3):c.850A>G (p.Lys284Glu)
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rs2139748562
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NM_015631.6(TCTN3):c.852+4G>A
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rs2139748541
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NM_015631.6(TCTN3):c.853-11T>C
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NM_015631.6(TCTN3):c.853G>A (p.Val285Ile)
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NM_015631.6(TCTN3):c.867G>A (p.Met289Ile)
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NM_015631.6(TCTN3):c.873T>A (p.Asp291Glu)
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rs2139747266
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NM_015631.6(TCTN3):c.877C>A (p.Gln293Lys)
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NM_015631.6(TCTN3):c.888+3A>T
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NM_015631.6(TCTN3):c.907C>T (p.Leu303Phe)
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NM_015631.6(TCTN3):c.911C>T (p.Thr304Ile)
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rs1024201294
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NM_015631.6(TCTN3):c.92C>A (p.Ala31Glu)
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NM_015631.6(TCTN3):c.936G>A (p.Leu312=)
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NM_015631.6(TCTN3):c.958G>T (p.Val320Leu)
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NM_015631.6(TCTN3):c.965C>G (p.Ser322Cys)
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NM_015631.6(TCTN3):c.979G>A (p.Glu327Lys)
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rs745387147
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NM_015631.6(TCTN3):c.982A>T (p.Ile328Leu)
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rs1267152740
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NM_015631.6(TCTN3):c.994G>A (p.Gly332Arg)
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NM_015631.6(TCTN3):c.995G>C (p.Gly332Ala)
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NM_015662.3(IFT172):c.100T>G (p.Cys34Gly)
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NM_015662.3(IFT172):c.1039G>A (p.Val347Met)
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rs773726175
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NM_015662.3(IFT172):c.1039G>C (p.Val347Leu)
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NM_015662.3(IFT172):c.1092A>T (p.Gly364=)
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NM_015662.3(IFT172):c.1097A>C (p.Glu366Ala)
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rs1668096577
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NM_015662.3(IFT172):c.1099C>A (p.Arg367Ser)
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NM_015662.3(IFT172):c.112C>G (p.Arg38Gly)
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NM_015662.3(IFT172):c.113G>A (p.Arg38Gln)
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rs552861632
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NM_015662.3(IFT172):c.1156C>T (p.Arg386Trp)
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rs1668091920
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NM_015662.3(IFT172):c.1162A>G (p.Ser388Gly)
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rs1668091082
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NM_015662.3(IFT172):c.1167+3A>G
|
rs2148543961
|
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NM_015662.3(IFT172):c.1167+5G>T
|
rs2148543947
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NM_015662.3(IFT172):c.1171G>C (p.Ala391Pro)
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|
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NM_015662.3(IFT172):c.1198_1200del (p.Lys400del)
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rs2148542998
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NM_015662.3(IFT172):c.1225T>C (p.Cys409Arg)
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NM_015662.3(IFT172):c.124C>A (p.Leu42Met)
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NM_015662.3(IFT172):c.1273A>G (p.Asn425Asp)
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rs145145347
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NM_015662.3(IFT172):c.1310_1311insAAA (p.Met436_Asn437insLys)
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NM_015662.3(IFT172):c.1325+6C>T
|
rs753078264
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NM_015662.3(IFT172):c.1330C>T (p.Arg444Cys)
|
rs1038040281
|
|
NM_015662.3(IFT172):c.1340A>G (p.Glu447Gly)
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|
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NM_015662.3(IFT172):c.137A>T (p.His46Leu)
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NM_015662.3(IFT172):c.1388T>C (p.Ile463Thr)
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NM_015662.3(IFT172):c.1393A>G (p.Ile465Val)
|
rs1667974652
|
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NM_015662.3(IFT172):c.1413G>A (p.Val471=)
|
rs2148531759
|
|
NM_015662.3(IFT172):c.1435A>G (p.Ile479Val)
|
rs1667635292
|
|
NM_015662.3(IFT172):c.1444G>C (p.Val482Leu)
|
rs771104054
|
|
NM_015662.3(IFT172):c.1448G>A (p.Ser483Asn)
|
rs1176061294
|
|
NM_015662.3(IFT172):c.1460G>A (p.Arg487His)
|
rs368967337
|
|
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg)
|
rs1282056614
|
|
NM_015662.3(IFT172):c.1507A>G (p.Arg503Gly)
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|
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NM_015662.3(IFT172):c.1514G>A (p.Arg505Gln)
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NM_015662.3(IFT172):c.1525-20C>G
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NM_015662.3(IFT172):c.153T>G (p.Asp51Glu)
|
rs537341371
|
|
NM_015662.3(IFT172):c.1544A>G (p.Glu515Gly)
|
|
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NM_015662.3(IFT172):c.1559C>A (p.Thr520Lys)
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NM_015662.3(IFT172):c.1559C>G (p.Thr520Arg)
|
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NM_015662.3(IFT172):c.1561A>G (p.Met521Val)
|
|
|
NM_015662.3(IFT172):c.1564A>T (p.Ile522Phe)
|
rs1437298206
|
|
NM_015662.3(IFT172):c.1570A>G (p.Asn524Asp)
|
rs1667528581
|
|
NM_015662.3(IFT172):c.1571A>G (p.Asn524Ser)
|
|
|
NM_015662.3(IFT172):c.1575C>G (p.Phe525Leu)
|
rs2148528504
|
|
NM_015662.3(IFT172):c.1577G>T (p.Cys526Phe)
|
rs1667527908
|
|
NM_015662.3(IFT172):c.1615G>A (p.Val539Ile)
|
rs1667524518
|
|
NM_015662.3(IFT172):c.161C>T (p.Ser54Phe)
|
|
|
NM_015662.3(IFT172):c.1646G>C (p.Trp549Ser)
|
|
|
NM_015662.3(IFT172):c.1666G>A (p.Glu556Lys)
|
|
|
NM_015662.3(IFT172):c.1675A>G (p.Thr559Ala)
|
|
|
NM_015662.3(IFT172):c.1691G>C (p.Arg564Thr)
|
|
|
NM_015662.3(IFT172):c.1692+6T>A
|
rs771744568
|
|
NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu)
|
rs765731241
|
|
NM_015662.3(IFT172):c.1712A>C (p.Glu571Ala)
|
|
|
NM_015662.3(IFT172):c.1714C>T (p.Arg572Trp)
|
|
|
NM_015662.3(IFT172):c.1718G>A (p.Gly573Asp)
|
|
|
NM_015662.3(IFT172):c.1732G>A (p.Glu578Lys)
|
|
|
NM_015662.3(IFT172):c.1794G>C (p.Glu598Asp)
|
rs147885790
|
|
NM_015662.3(IFT172):c.1807A>G (p.Ile603Val)
|
rs1442344603
|
|
NM_015662.3(IFT172):c.1816G>A (p.Gly606Ser)
|
rs745938799
|
|
NM_015662.3(IFT172):c.1823A>G (p.Tyr608Cys)
|
|
|
NM_015662.3(IFT172):c.1829+3G>A
|
rs751267637
|
|
NM_015662.3(IFT172):c.1838C>A (p.Ala613Asp)
|
|
|
NM_015662.3(IFT172):c.1849A>G (p.Thr617Ala)
|
rs1403737174
|
|
NM_015662.3(IFT172):c.1859T>G (p.Met620Arg)
|
|
|
NM_015662.3(IFT172):c.185A>G (p.Tyr62Cys)
|
rs2148559384
|
|
NM_015662.3(IFT172):c.1879A>G (p.Met627Val)
|
|
|
NM_015662.3(IFT172):c.1898A>G (p.Lys633Arg)
|
|
|
NM_015662.3(IFT172):c.1925A>C (p.His642Pro)
|
rs2148515313
|
|
NM_015662.3(IFT172):c.1931C>A (p.Ala644Glu)
|
rs371919234
|
|
NM_015662.3(IFT172):c.1931C>T (p.Ala644Val)
|
rs371919234
|
|
NM_015662.3(IFT172):c.1933G>C (p.Glu645Gln)
|
|
|
NM_015662.3(IFT172):c.1934A>T (p.Glu645Val)
|
|
|
NM_015662.3(IFT172):c.1937+5G>A
|
|
|
NM_015662.3(IFT172):c.1937+6G>A
|
rs1558388446
|
|
NM_015662.3(IFT172):c.195_196delinsTT (p.Lys65_Ser66delinsAsnCys)
|
rs2148559359
|
|
NM_015662.3(IFT172):c.1993G>A (p.Glu665Lys)
|
|
|
NM_015662.3(IFT172):c.1999G>A (p.Ala667Thr)
|
rs755632444
|
|
NM_015662.3(IFT172):c.2005C>G (p.Gln669Glu)
|
rs1666808431
|
|
NM_015662.3(IFT172):c.202A>G (p.Met68Val)
|
rs1007588478
|
|
NM_015662.3(IFT172):c.2047C>G (p.Gln683Glu)
|
|
|
NM_015662.3(IFT172):c.2049G>C (p.Gln683His)
|
rs780709991
|
|
NM_015662.3(IFT172):c.2054G>A (p.Arg685Gln)
|
rs561676433
|
|
NM_015662.3(IFT172):c.205G>A (p.Val69Met)
|
rs756299134
|
|
NM_015662.3(IFT172):c.2060G>A (p.Arg687His)
|
|
|
NM_015662.3(IFT172):c.2060G>T (p.Arg687Leu)
|
rs145601549
|
|
NM_015662.3(IFT172):c.2084A>G (p.Tyr695Cys)
|
rs1666775725
|
|
NM_015662.3(IFT172):c.2100G>T (p.Met700Ile)
|
|
|
NM_015662.3(IFT172):c.2129A>C (p.Glu710Ala)
|
|
|
NM_015662.3(IFT172):c.2148G>T (p.Gln716His)
|
|
|
NM_015662.3(IFT172):c.2159G>C (p.Arg720Pro)
|
rs202089120
|
|
NM_015662.3(IFT172):c.2193+5C>T
|
rs2148507369
|
|
NM_015662.3(IFT172):c.2193+6T>G
|
rs2148507360
|
|
NM_015662.3(IFT172):c.2197C>A (p.His733Asn)
|
rs774487712
|
|
NM_015662.3(IFT172):c.2210A>G (p.Glu737Gly)
|
|
|
NM_015662.3(IFT172):c.2234A>C (p.Gln745Pro)
|
rs765641043
|
|
NM_015662.3(IFT172):c.2236T>G (p.Trp746Gly)
|
|
|
NM_015662.3(IFT172):c.2261A>G (p.Glu754Gly)
|
|
|
NM_015662.3(IFT172):c.2264G>C (p.Arg755Pro)
|
rs78631901
|
|
NM_015662.3(IFT172):c.2294A>G (p.Asp765Gly)
|
|
|
NM_015662.3(IFT172):c.2309_2311dup (p.Ile770dup)
|
rs1239784714
|
|
NM_015662.3(IFT172):c.2310C>G (p.Ile770Met)
|
rs747166388
|
|
NM_015662.3(IFT172):c.2318A>G (p.Tyr773Cys)
|
|
|
NM_015662.3(IFT172):c.2339C>T (p.Ala780Val)
|
rs2148506384
|
|
NM_015662.3(IFT172):c.233C>T (p.Ser78Phe)
|
|
|
NM_015662.3(IFT172):c.2365C>G (p.Arg789Gly)
|
rs202024173
|
|
NM_015662.3(IFT172):c.2380G>C (p.Ala794Pro)
|
|
|
NM_015662.3(IFT172):c.2387C>G (p.Thr796Arg)
|
|
|
NM_015662.3(IFT172):c.2408C>T (p.Thr803Ile)
|
|
|
NM_015662.3(IFT172):c.2431C>A (p.Leu811Ile)
|
rs933347695
|
|
NM_015662.3(IFT172):c.2431C>G (p.Leu811Val)
|
rs933347695
|
|
NM_015662.3(IFT172):c.2435A>C (p.Tyr812Ser)
|
rs2148506110
|
|
NM_015662.3(IFT172):c.2442+5G>A
|
rs1666641444
|
|
NM_015662.3(IFT172):c.244G>T (p.Ala82Ser)
|
|
|
NM_015662.3(IFT172):c.2459A>T (p.Glu820Val)
|
rs1666622337
|
|
NM_015662.3(IFT172):c.2463G>T (p.Lys821Asn)
|
|
|
NM_015662.3(IFT172):c.2490G>C (p.Glu830Asp)
|
rs2148505488
|
|
NM_015662.3(IFT172):c.2497C>T (p.Arg833Cys)
|
|
|
NM_015662.3(IFT172):c.2503G>A (p.Gly835Ser)
|
rs1474467674
|
|
NM_015662.3(IFT172):c.2507A>T (p.Asn836Ile)
|
|
|
NM_015662.3(IFT172):c.2515A>C (p.Met839Leu)
|
|
|
NM_015662.3(IFT172):c.2523G>A (p.Ala841=)
|
|
|
NM_015662.3(IFT172):c.265A>G (p.Ile89Val)
|
|
|
NM_015662.3(IFT172):c.2660T>C (p.Ile887Thr)
|
rs761267426
|
|
NM_015662.3(IFT172):c.2665G>T (p.Ala889Ser)
|
|
|
NM_015662.3(IFT172):c.2672_2680del (p.Leu891_Ala893del)
|
rs1169567028
|
|
NM_015662.3(IFT172):c.2674G>A (p.Gly892Ser)
|
|
|
NM_015662.3(IFT172):c.2696C>T (p.Ala899Val)
|
rs1666451473
|
|
NM_015662.3(IFT172):c.2741A>G (p.Tyr914Cys)
|
rs2148501580
|
|
NM_015662.3(IFT172):c.2747C>T (p.Pro916Leu)
|
|
|
NM_015662.3(IFT172):c.274G>C (p.Val92Leu)
|
rs2148559132
|
|
NM_015662.3(IFT172):c.275T>C (p.Val92Ala)
|
rs1306568500
|
|
NM_015662.3(IFT172):c.2800_2811dup (p.Lys937_Gly938insLeuTyrThrLys)
|
|
|
NM_015662.3(IFT172):c.2806A>G (p.Thr936Ala)
|
|
|
NM_015662.3(IFT172):c.2809A>G (p.Lys937Glu)
|
rs1000172880
|
|
NM_015662.3(IFT172):c.2811G>T (p.Lys937Asn)
|
|
|
NM_015662.3(IFT172):c.281A>C (p.Lys94Thr)
|
rs1668654872
|
|
NM_015662.3(IFT172):c.2833A>G (p.Ile945Val)
|
rs1477777983
|
|
NM_015662.3(IFT172):c.2839A>G (p.Met947Val)
|
rs774401568
|
|
NM_015662.3(IFT172):c.2840T>C (p.Met947Thr)
|
|
|
NM_015662.3(IFT172):c.2845A>G (p.Thr949Ala)
|
rs1666396574
|
|
NM_015662.3(IFT172):c.2857C>G (p.Arg953Gly)
|
|
|
NM_015662.3(IFT172):c.2884A>G (p.Met962Val)
|
rs541501287
|
|
NM_015662.3(IFT172):c.2891G>A (p.Cys964Tyr)
|
|
|
NM_015662.3(IFT172):c.2905G>C (p.Asp969His)
|
rs1666329493
|
|
NM_015662.3(IFT172):c.2915T>A (p.Val972Glu)
|
rs2148498608
|
|
NM_015662.3(IFT172):c.2947A>G (p.Lys983Glu)
|
|
|
NM_015662.3(IFT172):c.2962C>T (p.Arg988Cys)
|
|
|
NM_015662.3(IFT172):c.2963G>A (p.Arg988His)
|
|
|
NM_015662.3(IFT172):c.2969C>A (p.Ala990Asp)
|
|
|
NM_015662.3(IFT172):c.297G>T (p.Trp99Cys)
|
rs2148557687
|
|
NM_015662.3(IFT172):c.2989G>A (p.Val997Ile)
|
|
|
NM_015662.3(IFT172):c.2994A>C (p.Gln998His)
|
|
|
NM_015662.3(IFT172):c.3001G>C (p.Asp1001His)
|
rs1666300541
|
|
NM_015662.3(IFT172):c.3023A>C (p.Lys1008Thr)
|
rs372047259
|
|
NM_015662.3(IFT172):c.3023A>G (p.Lys1008Arg)
|
|
|
NM_015662.3(IFT172):c.3044A>G (p.Asp1015Gly)
|
rs1666295604
|
|
NM_015662.3(IFT172):c.3071A>G (p.His1024Arg)
|
rs2148497488
|
|
NM_015662.3(IFT172):c.3112-19C>G
|
rs1666279699
|
|
NM_015662.3(IFT172):c.3112G>A (p.Glu1038Lys)
|
|
|
NM_015662.3(IFT172):c.3121G>A (p.Ala1041Thr)
|
|
|
NM_015662.3(IFT172):c.3153C>G (p.His1051Gln)
|
rs1666273532
|
|
NM_015662.3(IFT172):c.3154T>C (p.Tyr1052His)
|
|
|
NM_015662.3(IFT172):c.3160G>C (p.Glu1054Gln)
|
rs763117647
|
|
NM_015662.3(IFT172):c.3166C>G (p.Gln1056Glu)
|
rs1666272023
|
|
NM_015662.3(IFT172):c.3181A>G (p.Thr1061Ala)
|
rs550525758
|
|
NM_015662.3(IFT172):c.3196C>G (p.Arg1066Gly)
|
rs148997142
|
|
NM_015662.3(IFT172):c.3202A>T (p.Ser1068Cys)
|
rs1666267648
|
|
NM_015662.3(IFT172):c.3205G>A (p.Gly1069Arg)
|
rs1666267219
|
|
NM_015662.3(IFT172):c.3250G>T (p.Ala1084Ser)
|
|
|
NM_015662.3(IFT172):c.3257C>T (p.Ala1086Val)
|
|
|
NM_015662.3(IFT172):c.325T>C (p.Phe109Leu)
|
rs542128061
|
|
NM_015662.3(IFT172):c.3267C>A (p.His1089Gln)
|
|
|
NM_015662.3(IFT172):c.3307G>T (p.Ala1103Ser)
|
|
|
NM_015662.3(IFT172):c.3313_3327del (p.Arg1105_Lys1109del)
|
rs2148494469
|
|
NM_015662.3(IFT172):c.332A>G (p.Gln111Arg)
|
|
|
NM_015662.3(IFT172):c.3341A>T (p.Glu1114Val)
|
|
|
NM_015662.3(IFT172):c.3379G>C (p.Glu1127Gln)
|
rs1158499870
|
|
NM_015662.3(IFT172):c.3401G>A (p.Arg1134Gln)
|
rs148624326
|
|
NM_015662.3(IFT172):c.340G>A (p.Ala114Thr)
|
rs2148556996
|
|
NM_015662.3(IFT172):c.3425C>T (p.Pro1142Leu)
|
|
|
NM_015662.3(IFT172):c.3448A>G (p.Met1150Val)
|
rs769882549
|
|
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)
|
|
|
NM_015662.3(IFT172):c.3465G>C (p.Glu1155Asp)
|
rs935403723
|
|
NM_015662.3(IFT172):c.3466-11_3466-8del
|
rs773373497
|
|
NM_015662.3(IFT172):c.3466G>C (p.Gly1156Arg)
|
rs1665983486
|
|
NM_015662.3(IFT172):c.3475G>A (p.Glu1159Lys)
|
|
|
NM_015662.3(IFT172):c.3488C>T (p.Ala1163Val)
|
|
|
NM_015662.3(IFT172):c.3511C>G (p.Pro1171Ala)
|
rs747503760
|
|
NM_015662.3(IFT172):c.3520G>C (p.Ala1174Pro)
|
|
|
NM_015662.3(IFT172):c.3523G>A (p.Val1175Ile)
|
|
|
NM_015662.3(IFT172):c.3580C>G (p.His1194Asp)
|
rs764965204
|
|
NM_015662.3(IFT172):c.3586C>T (p.Pro1196Ser)
|
rs1665955306
|
|
NM_015662.3(IFT172):c.3590A>G (p.Asp1197Gly)
|
rs760796294
|
|
NM_015662.3(IFT172):c.3598G>A (p.Ala1200Thr)
|
rs377521375
|
|
NM_015662.3(IFT172):c.3604G>T (p.Val1202Leu)
|
|
|
NM_015662.3(IFT172):c.3607C>G (p.Leu1203Val)
|
rs2148488428
|
|
NM_015662.3(IFT172):c.3616C>G (p.Gln1206Glu)
|
rs1313893050
|
|
NM_015662.3(IFT172):c.3620C>T (p.Ala1207Val)
|
rs746530471
|
|
NM_015662.3(IFT172):c.3623G>A (p.Arg1208Gln)
|
rs758387302
|
|
NM_015662.3(IFT172):c.3623G>C (p.Arg1208Pro)
|
rs758387302
|
|
NM_015662.3(IFT172):c.362C>T (p.Pro121Leu)
|
rs765202929
|
|
NM_015662.3(IFT172):c.3632T>G (p.Leu1211Trp)
|
rs532669006
|
|
NM_015662.3(IFT172):c.3634G>A (p.Glu1212Lys)
|
rs764315033
|
|
NM_015662.3(IFT172):c.3637G>A (p.Glu1213Lys)
|
|
|
NM_015662.3(IFT172):c.3662G>C (p.Gly1221Ala)
|
rs1454157190
|
|
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His)
|
rs746597294
|
|
NM_015662.3(IFT172):c.3701A>G (p.Asn1234Ser)
|
|
|
NM_015662.3(IFT172):c.3712G>A (p.Glu1238Lys)
|
|
|
NM_015662.3(IFT172):c.371A>T (p.Tyr124Phe)
|
|
|
NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile)
|
rs145507269
|
|
NM_015662.3(IFT172):c.3730G>A (p.Asp1244Asn)
|
|
|
NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del)
|
rs763826196
|
|
NM_015662.3(IFT172):c.3791A>T (p.Tyr1264Phe)
|
|
|
NM_015662.3(IFT172):c.3793G>C (p.Glu1265Gln)
|
|
|
NM_015662.3(IFT172):c.3797G>A (p.Arg1266Gln)
|
|
|
NM_015662.3(IFT172):c.3811A>G (p.Lys1271Glu)
|
|
|
NM_015662.3(IFT172):c.3813G>T (p.Lys1271Asn)
|
|
|
NM_015662.3(IFT172):c.3821+5G>A
|
|
|
NM_015662.3(IFT172):c.3824G>A (p.Gly1275Asp)
|
|
|
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val)
|
rs543062539
|
|
NM_015662.3(IFT172):c.3844C>A (p.Gln1282Lys)
|
rs1665885295
|
|
NM_015662.3(IFT172):c.3855C>G (p.His1285Gln)
|
rs776343273
|
|
NM_015662.3(IFT172):c.3866C>A (p.Ala1289Asp)
|
rs768543764
|
|
NM_015662.3(IFT172):c.3871G>A (p.Glu1291Lys)
|
rs1665880862
|
|
NM_015662.3(IFT172):c.3902A>G (p.Lys1301Arg)
|
|
|
NM_015662.3(IFT172):c.3910G>T (p.Asp1304Tyr)
|
|
|
NM_015662.3(IFT172):c.3921C>G (p.Asn1307Lys)
|
rs377211687
|
|
NM_015662.3(IFT172):c.3925G>A (p.Gly1309Ser)
|
|
|
NM_015662.3(IFT172):c.3926G>A (p.Gly1309Asp)
|
|
|
NM_015662.3(IFT172):c.3951+2_3951+5dup
|
rs2148485951
|
|
NM_015662.3(IFT172):c.3987A>T (p.Gln1329His)
|
rs768705269
|
|
NM_015662.3(IFT172):c.3988C>A (p.Arg1330Ser)
|
rs768990688
|
|
NM_015662.3(IFT172):c.4039A>G (p.Lys1347Glu)
|
|
|
NM_015662.3(IFT172):c.4046G>C (p.Ser1349Thr)
|
rs762984875
|
|
NM_015662.3(IFT172):c.4050+2dup
|
rs2148478879
|
|
NM_015662.3(IFT172):c.4117G>A (p.Glu1373Lys)
|
|
|
NM_015662.3(IFT172):c.4135C>T (p.Arg1379Cys)
|
|
|
NM_015662.3(IFT172):c.4161-11C>T
|
|
|
NM_015662.3(IFT172):c.4163A>G (p.Tyr1388Cys)
|
|
|
NM_015662.3(IFT172):c.4177G>A (p.Asp1393Asn)
|
|
|
NM_015662.3(IFT172):c.4179C>G (p.Asp1393Glu)
|
|
|
NM_015662.3(IFT172):c.4185T>G (p.His1395Gln)
|
rs148360112
|
|
NM_015662.3(IFT172):c.4197C>A (p.Phe1399Leu)
|
|
|
NM_015662.3(IFT172):c.4208A>G (p.Gln1403Arg)
|
rs1665458761
|
|
NM_015662.3(IFT172):c.4214A>G (p.Lys1405Arg)
|
|
|
NM_015662.3(IFT172):c.4264G>C (p.Val1422Leu)
|
|
|
NM_015662.3(IFT172):c.4279T>C (p.Trp1427Arg)
|
rs1665443434
|
|
NM_015662.3(IFT172):c.4282G>A (p.Asp1428Asn)
|
rs1665443007
|
|
NM_015662.3(IFT172):c.4288T>G (p.Cys1430Gly)
|
|
|
NM_015662.3(IFT172):c.429T>G (p.Asn143Lys)
|
|
|
NM_015662.3(IFT172):c.4300G>C (p.Ala1434Pro)
|
rs1465201525
|
|
NM_015662.3(IFT172):c.4307A>G (p.Lys1436Arg)
|
rs377646246
|
|
NM_015662.3(IFT172):c.4311+4C>T
|
|
|
NM_015662.3(IFT172):c.4311+6G>T
|
rs1210994251
|
|
NM_015662.3(IFT172):c.4319A>G (p.Lys1440Arg)
|
|
|
NM_015662.3(IFT172):c.4346A>G (p.Tyr1449Cys)
|
|
|
NM_015662.3(IFT172):c.4387T>A (p.Leu1463Met)
|
|
|
NM_015662.3(IFT172):c.4412C>A (p.Ala1471Asp)
|
rs1219587063
|
|
NM_015662.3(IFT172):c.4459G>A (p.Asp1487Asn)
|
rs371807689
|
|
NM_015662.3(IFT172):c.4464G>A (p.Met1488Ile)
|
|
|
NM_015662.3(IFT172):c.4487G>A (p.Cys1496Tyr)
|
rs149435148
|
|
NM_015662.3(IFT172):c.4487G>T (p.Cys1496Phe)
|
rs149435148
|
|
NM_015662.3(IFT172):c.44G>T (p.Gly15Val)
|
rs1572838053
|
|
NM_015662.3(IFT172):c.4504A>T (p.Ser1502Cys)
|
|
|
NM_015662.3(IFT172):c.4507T>C (p.Trp1503Arg)
|
rs1665288911
|
|
NM_015662.3(IFT172):c.4576C>G (p.Pro1526Ala)
|
|
|
NM_015662.3(IFT172):c.4577C>T (p.Pro1526Leu)
|
|
|
NM_015662.3(IFT172):c.4631G>A (p.Arg1544His)
|
|
|
NM_015662.3(IFT172):c.463G>A (p.Val155Met)
|
rs149969430
|
|
NM_015662.3(IFT172):c.463G>C (p.Val155Leu)
|
rs149969430
|
|
NM_015662.3(IFT172):c.4648G>A (p.Val1550Ile)
|
rs779801761
|
|
NM_015662.3(IFT172):c.4656G>T (p.Gln1552His)
|
rs530107456
|
|
NM_015662.3(IFT172):c.466G>T (p.Val156Leu)
|
rs1401986067
|
|
NM_015662.3(IFT172):c.4676G>A (p.Arg1559Lys)
|
|
|
NM_015662.3(IFT172):c.4697G>A (p.Arg1566His)
|
|
|
NM_015662.3(IFT172):c.4703C>T (p.Thr1568Ile)
|
|
|
NM_015662.3(IFT172):c.4760T>C (p.Val1587Ala)
|
rs1483735124
|
|
NM_015662.3(IFT172):c.4773C>G (p.Asn1591Lys)
|
rs770759155
|
|
NM_015662.3(IFT172):c.4776G>A (p.Met1592Ile)
|
rs1042644207
|
|
NM_015662.3(IFT172):c.4780T>C (p.Phe1594Leu)
|
|
|
NM_015662.3(IFT172):c.4874T>G (p.Ile1625Ser)
|
|
|
NM_015662.3(IFT172):c.4876_4878dup (p.Pro1626_Phe1627insPro)
|
rs1437853998
|
|
NM_015662.3(IFT172):c.4891C>T (p.Leu1631Phe)
|
|
|
NM_015662.3(IFT172):c.4912C>T (p.Pro1638Ser)
|
|
|
NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del)
|
rs1664979213
|
|
NM_015662.3(IFT172):c.4944G>C (p.Trp1648Cys)
|
rs1664978966
|
|
NM_015662.3(IFT172):c.495A>G (p.Lys165=)
|
rs1202101296
|
|
NM_015662.3(IFT172):c.4988C>T (p.Pro1663Leu)
|
rs1357445568
|
|
NM_015662.3(IFT172):c.4998G>T (p.Glu1666Asp)
|
rs2148465651
|
|
NM_015662.3(IFT172):c.5015C>G (p.Ala1672Gly)
|
rs2148465580
|
|
NM_015662.3(IFT172):c.5018C>T (p.Ser1673Phe)
|
|
|
NM_015662.3(IFT172):c.5036C>G (p.Thr1679Ser)
|
rs2148465499
|
|
NM_015662.3(IFT172):c.5041G>A (p.Val1681Ile)
|
rs763335302
|
|
NM_015662.3(IFT172):c.5044C>G (p.Arg1682Gly)
|
|
|
NM_015662.3(IFT172):c.5068+3A>G
|
rs1664957671
|
|
NM_015662.3(IFT172):c.5080C>G (p.Leu1694Val)
|
|
|
NM_015662.3(IFT172):c.5093T>C (p.Ile1698Thr)
|
|
|
NM_015662.3(IFT172):c.509G>T (p.Gly170Val)
|
rs770113267
|
|
NM_015662.3(IFT172):c.5105G>A (p.Arg1702Gln)
|
|
|
NM_015662.3(IFT172):c.5116G>A (p.Ala1706Thr)
|
|
|
NM_015662.3(IFT172):c.5120C>T (p.Ala1707Val)
|
|
|
NM_015662.3(IFT172):c.5159A>G (p.Lys1720Arg)
|
rs755256585
|
|
NM_015662.3(IFT172):c.5160+6A>G
|
rs2148464534
|
|
NM_015662.3(IFT172):c.5170A>G (p.Ser1724Gly)
|
rs148800421
|
|
NM_015662.3(IFT172):c.518A>G (p.Asp173Gly)
|
|
|
NM_015662.3(IFT172):c.5204G>A (p.Ser1735Asn)
|
|
|
NM_015662.3(IFT172):c.5207_5209del (p.Gln1736_Trp1737delinsArg)
|
rs2148462684
|
|
NM_015662.3(IFT172):c.5212T>G (p.Cys1738Gly)
|
rs1664849569
|
|
NM_015662.3(IFT172):c.5228G>C (p.Ser1743Thr)
|
rs2148462622
|
|
NM_015662.3(IFT172):c.5245C>G (p.Gln1749Glu)
|
rs2148462534
|
|
NM_015662.3(IFT172):c.534G>C (p.Arg178Ser)
|
|
|
NM_015662.3(IFT172):c.570+3A>G
|
|
|
NM_015662.3(IFT172):c.571-3T>A
|
|
|
NM_015662.3(IFT172):c.571-3T>C
|
|
|
NM_015662.3(IFT172):c.589C>T (p.Pro197Ser)
|
rs267599319
|
|
NM_015662.3(IFT172):c.5A>G (p.His2Arg)
|
|
|
NM_015662.3(IFT172):c.616G>A (p.Ala206Thr)
|
|
|
NM_015662.3(IFT172):c.619A>G (p.Thr207Ala)
|
|
|
NM_015662.3(IFT172):c.622A>G (p.Asn208Asp)
|
rs909930223
|
|
NM_015662.3(IFT172):c.663C>G (p.Ala221=)
|
rs2148550253
|
|
NM_015662.3(IFT172):c.682A>C (p.Met228Leu)
|
|
|
NM_015662.3(IFT172):c.702T>C (p.Tyr234=)
|
|
|
NM_015662.3(IFT172):c.706C>G (p.Arg236Gly)
|
rs146290725
|
|
NM_015662.3(IFT172):c.722G>A (p.Arg241Gln)
|
|
|
NM_015662.3(IFT172):c.748C>G (p.Pro250Ala)
|
rs1013134780
|
|
NM_015662.3(IFT172):c.763G>A (p.Val255Ile)
|
rs2148549986
|
|
NM_015662.3(IFT172):c.786-6T>G
|
|
|
NM_015662.3(IFT172):c.78G>T (p.Gln26His)
|
|
|
NM_015662.3(IFT172):c.800A>G (p.Asn267Ser)
|
|
|
NM_015662.3(IFT172):c.839C>G (p.Pro280Arg)
|
rs1279126964
|
|
NM_015662.3(IFT172):c.854A>G (p.Asn285Ser)
|
rs975683128
|
|
NM_015662.3(IFT172):c.887G>A (p.Arg296Gln)
|
|
|
NM_015662.3(IFT172):c.909+11A>G
|
|
|
NM_015662.3(IFT172):c.909+3G>A
|
rs2148547848
|
|
NM_015662.3(IFT172):c.911G>A (p.Gly304Asp)
|
rs1553335843
|
|
NM_015662.3(IFT172):c.926G>A (p.Gly309Glu)
|
rs749612277
|
|
NM_015662.3(IFT172):c.956G>A (p.Arg319Lys)
|
rs1002834084
|
|
NM_015662.3(IFT172):c.963T>G (p.Ile321Met)
|
|
|
NM_015662.3(IFT172):c.972C>A (p.Asn324Lys)
|
rs370874046
|
|
NM_015662.3(IFT172):c.97G>C (p.Val33Leu)
|
rs2148559931
|
|
NM_015681.6(B9D1):c.103G>A (p.Val35Met)
|
rs2152276184
|
|
NM_015681.6(B9D1):c.113A>G (p.Gln38Arg)
|
rs1248771637
|
|
NM_015681.6(B9D1):c.124C>A (p.Pro42Thr)
|
rs2152276151
|
|
NM_015681.6(B9D1):c.182G>A (p.Arg61Gln)
|
|
|
NM_015681.6(B9D1):c.204C>A (p.Phe68Leu)
|
rs1006221533
|
|
NM_015681.6(B9D1):c.208A>G (p.Ile70Val)
|
|
|
NM_015681.6(B9D1):c.20G>A (p.Ser7Asn)
|
rs1911256730
|
|
NM_015681.6(B9D1):c.226A>C (p.Ser76Arg)
|
rs2152273843
|
|
NM_015681.6(B9D1):c.22G>A (p.Val8Ile)
|
|
|
NM_015681.6(B9D1):c.233A>G (p.Asn78Ser)
|
|
|
NM_015681.6(B9D1):c.234C>A (p.Asn78Lys)
|
rs2152273834
|
|
NM_015681.6(B9D1):c.234C>G (p.Asn78Lys)
|
rs2152273834
|
|
NM_015681.6(B9D1):c.26T>G (p.Phe9Cys)
|
|
|
NM_015681.6(B9D1):c.271G>A (p.Gly91Arg)
|
rs1238280587
|
|
NM_015681.6(B9D1):c.285C>A (p.Phe95Leu)
|
rs373478202
|
|
NM_015681.6(B9D1):c.285C>G (p.Phe95Leu)
|
|
|
NM_015681.6(B9D1):c.286G>A (p.Gly96Arg)
|
|
|
NM_015681.6(B9D1):c.302G>A (p.Arg101Gln)
|
|
|
NM_015681.6(B9D1):c.342-10T>C
|
rs1908966319
|
|
NM_015681.6(B9D1):c.342-1_344dup
|
rs2152260983
|
|
NM_015681.6(B9D1):c.344A>G (p.His115Arg)
|
rs748742792
|
|
NM_015681.6(B9D1):c.358C>G (p.Pro120Ala)
|
|
|
NM_015681.6(B9D1):c.415G>T (p.Gly139Trp)
|
|
|
NM_015681.6(B9D1):c.419G>A (p.Arg140Gln)
|
|
|
NM_015681.6(B9D1):c.431A>G (p.Tyr144Cys)
|
rs1908317419
|
|
NM_015681.6(B9D1):c.445G>A (p.Val149Met)
|
|
|
NM_015681.6(B9D1):c.446TGG[1] (p.Val150del)
|
rs1064796686
|
|
NM_015681.6(B9D1):c.455A>G (p.Gln152Arg)
|
rs1456979116
|
|
NM_015681.6(B9D1):c.460G>T (p.Glu154Ter)
|
|
|
NM_015681.6(B9D1):c.478C>A (p.Arg160Ser)
|
rs182767811
|
|
NM_015681.6(B9D1):c.493G>C (p.Gly165Arg)
|
|
|
NM_015681.6(B9D1):c.49G>A (p.Val17Met)
|
|
|
NM_015681.6(B9D1):c.505C>G (p.Leu169Val)
|
|
|
NM_015681.6(B9D1):c.505CTC[1] (p.Leu170del)
|
|
|
NM_015681.6(B9D1):c.548A>G (p.Tyr183Cys)
|
|
|
NM_015681.6(B9D1):c.55A>C (p.Ser19Arg)
|
|
|
NM_015681.6(B9D1):c.55A>G (p.Ser19Gly)
|
rs1280021718
|
|
NM_015681.6(B9D1):c.602G>A (p.Ser201Asn)
|
rs1310730602
|
|
NM_015681.6(B9D1):c.608C>T (p.Pro203Leu)
|
|
|
NM_015681.6(B9D1):c.612G>T (p.Gln204His)
|
|
|
NM_015681.6(B9D1):c.613T>C (p.Ter205Arg)
|
rs201498591
|
|
NM_015681.6(B9D1):c.63+6C>A
|
|
|
NM_015681.6(B9D1):c.77A>C (p.Asp26Ala)
|
|
|
NM_015681.6(B9D1):c.83T>C (p.Leu28Pro)
|
|
|
NM_015896.4(ZMYND10):c.1018C>T (p.Arg340Trp)
|
|
|
NM_015896.4(ZMYND10):c.1028G>A (p.Arg343Gln)
|
|
|
NM_015896.4(ZMYND10):c.1117C>G (p.Arg373Gly)
|
|
|
NM_015896.4(ZMYND10):c.1172G>A (p.Arg391Gln)
|
|
|
NM_015896.4(ZMYND10):c.1177C>G (p.Arg393Gly)
|
|
|
NM_015896.4(ZMYND10):c.1178G>A (p.Arg393His)
|
|
|
NM_015896.4(ZMYND10):c.1220G>C (p.Arg407Pro)
|
rs182064110
|
|
NM_015896.4(ZMYND10):c.1238A>G (p.Tyr413Cys)
|
rs763739603
|
|
NM_015896.4(ZMYND10):c.1252_1253insA (p.Cys418Ter)
|
rs1553720370
|
|
NM_015896.4(ZMYND10):c.1270G>A (p.Glu424Lys)
|
rs1575551902
|
|
NM_015896.4(ZMYND10):c.145G>A (p.Asp49Asn)
|
rs1486742632
|
|
NM_015896.4(ZMYND10):c.152C>T (p.Thr51Ile)
|
|
|
NM_015896.4(ZMYND10):c.159C>A (p.Ser53Arg)
|
rs1703505766
|
|
NM_015896.4(ZMYND10):c.20T>C (p.Leu7Pro)
|
|
|
NM_015896.4(ZMYND10):c.236A>G (p.Glu79Gly)
|
rs1438398042
|
|
NM_015896.4(ZMYND10):c.240G>A (p.Met80Ile)
|
|
|
NM_015896.4(ZMYND10):c.299C>T (p.Thr100Ile)
|
|
|
NM_015896.4(ZMYND10):c.319-3C>T
|
rs1264654207
|
|
NM_015896.4(ZMYND10):c.356C>T (p.Thr119Ile)
|
|
|
NM_015896.4(ZMYND10):c.359T>C (p.Val120Ala)
|
rs1575555288
|
|
NM_015896.4(ZMYND10):c.367C>T (p.His123Tyr)
|
|
|
NM_015896.4(ZMYND10):c.461G>A (p.Cys154Tyr)
|
|
|
NM_015896.4(ZMYND10):c.477G>T (p.Glu159Asp)
|
rs377737133
|
|
NM_015896.4(ZMYND10):c.53G>T (p.Gly18Val)
|
rs1703518565
|
|
NM_015896.4(ZMYND10):c.562C>G (p.Leu188Val)
|
|
|
NM_015896.4(ZMYND10):c.578A>G (p.Tyr193Cys)
|
|
|
NM_015896.4(ZMYND10):c.600-15C>A
|
|
|
NM_015896.4(ZMYND10):c.600-9_600-8insA
|
|
|
NM_015896.4(ZMYND10):c.637C>A (p.His213Asn)
|
rs199711270
|
|
NM_015896.4(ZMYND10):c.691C>T (p.Arg231Trp)
|
|
|
NM_015896.4(ZMYND10):c.721G>A (p.Gly241Ser)
|
|
|
NM_015896.4(ZMYND10):c.722G>A (p.Gly241Asp)
|
rs765212360
|
|
NM_015896.4(ZMYND10):c.775G>A (p.Asp259Asn)
|
rs772481555
|
|
NM_015896.4(ZMYND10):c.775G>T (p.Asp259Tyr)
|
|
|
NM_015896.4(ZMYND10):c.815G>A (p.Ser272Asn)
|
rs1376562082
|
|
NM_015896.4(ZMYND10):c.833G>A (p.Arg278His)
|
|
|
NM_015896.4(ZMYND10):c.852T>A (p.Phe284Leu)
|
rs760826410
|
|
NM_015896.4(ZMYND10):c.863G>A (p.Arg288Gln)
|
rs767713937
|
|
NM_015896.4(ZMYND10):c.877C>T (p.Arg293Trp)
|
|
|
NM_015896.4(ZMYND10):c.922G>A (p.Ala308Thr)
|
rs762334244
|
|
NM_015896.4(ZMYND10):c.93G>A (p.Gly31=)
|
rs1703507170
|
|
NM_015910.7(WDPCP):c.1023C>G (p.Ile341Met)
|
rs2105191115
|
|
NM_015910.7(WDPCP):c.1028G>A (p.Cys343Tyr)
|
rs755715881
|
|
NM_015910.7(WDPCP):c.102G>A (p.Met34Ile)
|
rs1233974354
|
|
NM_015910.7(WDPCP):c.1053A>C (p.Lys351Asn)
|
|
|
NM_015910.7(WDPCP):c.1081C>G (p.Leu361Val)
|
|
|
NM_015910.7(WDPCP):c.10G>A (p.Glu4Lys)
|
rs763789574
|
|
NM_015910.7(WDPCP):c.1108G>C (p.Val370Leu)
|
|
|
NM_015910.7(WDPCP):c.1156C>T (p.His386Tyr)
|
|
|
NM_015910.7(WDPCP):c.1166G>A (p.Gly389Asp)
|
rs1575343526
|
|
NM_015910.7(WDPCP):c.1180G>C (p.Val394Leu)
|
rs1694385958
|
|
NM_015910.7(WDPCP):c.1181T>C (p.Val394Ala)
|
|
|
NM_015910.7(WDPCP):c.1231A>G (p.Ile411Val)
|
|
|
NM_015910.7(WDPCP):c.1237A>G (p.Ile413Val)
|
rs1694378572
|
|
NM_015910.7(WDPCP):c.1238T>G (p.Ile413Ser)
|
rs952405240
|
|
NM_015910.7(WDPCP):c.1295T>C (p.Phe432Ser)
|
|
|
NM_015910.7(WDPCP):c.1297G>T (p.Asp433Tyr)
|
|
|
NM_015910.7(WDPCP):c.130T>C (p.Trp44Arg)
|
rs1280928455
|
|
NM_015910.7(WDPCP):c.1322T>C (p.Met441Thr)
|
rs886056224
|
|
NM_015910.7(WDPCP):c.133T>G (p.Ser45Ala)
|
rs1232978776
|
|
NM_015910.7(WDPCP):c.1340A>G (p.Gln447Arg)
|
rs2105185377
|
|
NM_015910.7(WDPCP):c.1356G>T (p.Lys452Asn)
|
rs372258764
|
|
NM_015910.7(WDPCP):c.1358G>T (p.Gly453Val)
|
|
|
NM_015910.7(WDPCP):c.1373T>C (p.Ile458Thr)
|
rs2105184946
|
|
NM_015910.7(WDPCP):c.1415G>A (p.Gly472Asp)
|
rs1694358624
|
|
NM_015910.7(WDPCP):c.1421T>C (p.Leu474Pro)
|
rs1575342542
|
|
NM_015910.7(WDPCP):c.1435+18A>G
|
rs777055382
|
|
NM_015910.7(WDPCP):c.1435+4A>C
|
rs1694355240
|
|
NM_015910.7(WDPCP):c.1457T>C (p.Leu486Pro)
|
rs2104901919
|
|
NM_015910.7(WDPCP):c.1471A>G (p.Ile491Val)
|
rs1160883774
|
|
NM_015910.7(WDPCP):c.1491C>G (p.His497Gln)
|
rs577571642
|
|
NM_015910.7(WDPCP):c.1519A>T (p.Ile507Phe)
|
rs754985173
|
|
NM_015910.7(WDPCP):c.1527C>A (p.Ser509Arg)
|
|
|
NM_015910.7(WDPCP):c.1530C>A (p.Ser510Arg)
|
rs1417068972
|
|
NM_015910.7(WDPCP):c.1533G>A (p.Met511Ile)
|
rs2104900509
|
|
NM_015910.7(WDPCP):c.1538G>C (p.Trp513Ser)
|
rs2104900470
|
|
NM_015910.7(WDPCP):c.1547T>A (p.Leu516Gln)
|
rs1692348691
|
|
NM_015910.7(WDPCP):c.154A>G (p.Ile52Val)
|
|
|
NM_015910.7(WDPCP):c.1559G>A (p.Cys520Tyr)
|
rs1692347777
|
|
NM_015910.7(WDPCP):c.1574G>A (p.Ser525Asn)
|
|
|
NM_015910.7(WDPCP):c.1591CTT[1] (p.Leu532del)
|
rs748711953
|
|
NM_015910.7(WDPCP):c.1625-3C>T
|
rs1692041154
|
|
NM_015910.7(WDPCP):c.1651T>G (p.Phe551Val)
|
rs992864301
|
|
NM_015910.7(WDPCP):c.1652T>G (p.Phe551Cys)
|
rs1333720503
|
|
NM_015910.7(WDPCP):c.1655A>G (p.Tyr552Cys)
|
|
|
NM_015910.7(WDPCP):c.1676T>C (p.Leu559Pro)
|
rs2104858625
|
|
NM_015910.7(WDPCP):c.1703A>C (p.Asp568Ala)
|
|
|
NM_015910.7(WDPCP):c.1703A>T (p.Asp568Val)
|
|
|
NM_015910.7(WDPCP):c.1715A>C (p.Lys572Thr)
|
|
|
NM_015910.7(WDPCP):c.172G>A (p.Gly58Arg)
|
rs190629484
|
|
NM_015910.7(WDPCP):c.1731C>A (p.Phe577Leu)
|
rs778132438
|
|
NM_015910.7(WDPCP):c.1736A>C (p.His579Pro)
|
|
|
NM_015910.7(WDPCP):c.1748+3G>C
|
rs2104857373
|
|
NM_015910.7(WDPCP):c.1796C>T (p.Ala599Val)
|
|
|
NM_015910.7(WDPCP):c.1798C>G (p.Arg600Gly)
|
rs747517141
|
|
NM_015910.7(WDPCP):c.1799G>C (p.Arg600Pro)
|
|
|
NM_015910.7(WDPCP):c.1812+3G>A
|
|
|
NM_015910.7(WDPCP):c.1813-3C>T
|
rs772639117
|
|
NM_015910.7(WDPCP):c.1817T>G (p.Ile606Ser)
|
|
|
NM_015910.7(WDPCP):c.1818T>G (p.Ile606Met)
|
|
|
NM_015910.7(WDPCP):c.181C>A (p.Gln61Lys)
|
|
|
NM_015910.7(WDPCP):c.1846T>A (p.Leu616Met)
|
rs779790542
|
|
NM_015910.7(WDPCP):c.1849G>A (p.Ala617Thr)
|
rs765912876
|
|
NM_015910.7(WDPCP):c.187T>G (p.Tyr63Asp)
|
|
|
NM_015910.7(WDPCP):c.1882G>A (p.Asp628Asn)
|
|
|
NM_015910.7(WDPCP):c.1915+3A>C
|
rs2104771665
|
|
NM_015910.7(WDPCP):c.1922T>G (p.Leu641Arg)
|
rs1673680183
|
|
NM_015910.7(WDPCP):c.1942G>T (p.Asp648Tyr)
|
|
|
NM_015910.7(WDPCP):c.1945A>G (p.Met649Val)
|
rs759281211
|
|
NM_015910.7(WDPCP):c.1970T>C (p.Leu657Pro)
|
|
|
NM_015910.7(WDPCP):c.1991A>T (p.Glu664Val)
|
|
|
NM_015910.7(WDPCP):c.1A>C (p.Met1Leu)
|
|
|
NM_015910.7(WDPCP):c.2001T>G (p.Phe667Leu)
|
|
|
NM_015910.7(WDPCP):c.2017C>T (p.Pro673Ser)
|
|
|
NM_015910.7(WDPCP):c.2051A>G (p.Gln684Arg)
|
|
|
NM_015910.7(WDPCP):c.2078G>T (p.Arg693Ile)
|
|
|
NM_015910.7(WDPCP):c.2079-3C>T
|
|
|
NM_015910.7(WDPCP):c.2083A>G (p.Ile695Val)
|
|
|
NM_015910.7(WDPCP):c.2087T>C (p.Ile696Thr)
|
rs1672025805
|
|
NM_015910.7(WDPCP):c.2089G>C (p.Asp697His)
|
|
|
NM_015910.7(WDPCP):c.2102A>C (p.Glu701Ala)
|
|
|
NM_015910.7(WDPCP):c.2107G>C (p.Glu703Gln)
|
|
|
NM_015910.7(WDPCP):c.2123C>A (p.Ser708Tyr)
|
rs1672022341
|
|
NM_015910.7(WDPCP):c.2125G>A (p.Gly709Arg)
|
rs1228276176
|
|
NM_015910.7(WDPCP):c.2171G>C (p.Arg724Thr)
|
|
|
NM_015910.7(WDPCP):c.218A>G (p.His73Arg)
|
rs1481685257
|
|
NM_015910.7(WDPCP):c.2192A>T (p.Glu731Val)
|
rs1669577990
|
|
NM_015910.7(WDPCP):c.2230G>A (p.Gly744Ser)
|
rs1669575177
|
|
NM_015910.7(WDPCP):c.227T>C (p.Leu76Ser)
|
|
|
NM_015910.7(WDPCP):c.242A>G (p.Lys81Arg)
|
rs545984327
|
|
NM_015910.7(WDPCP):c.26C>G (p.Ala9Gly)
|
rs2106583961
|
|
NM_015910.7(WDPCP):c.287G>A (p.Arg96His)
|
|
|
NM_015910.7(WDPCP):c.296A>C (p.Lys99Thr)
|
rs772670414
|
|
NM_015910.7(WDPCP):c.296A>G (p.Lys99Arg)
|
|
|
NM_015910.7(WDPCP):c.29_31del (p.Tyr10del)
|
rs2106583906
|
|
NM_015910.7(WDPCP):c.304G>A (p.Asp102Asn)
|
|
|
NM_015910.7(WDPCP):c.313A>G (p.Lys105Glu)
|
rs2105907063
|
|
NM_015910.7(WDPCP):c.324+6T>C
|
rs1700475057
|
|
NM_015910.7(WDPCP):c.32C>T (p.Ser11Phe)
|
|
|
NM_015910.7(WDPCP):c.335A>G (p.Gln112Arg)
|
|
|
NM_015910.7(WDPCP):c.344G>A (p.Arg115Gln)
|
rs748871007
|
|
NM_015910.7(WDPCP):c.346T>G (p.Cys116Gly)
|
|
|
NM_015910.7(WDPCP):c.385-3T>C
|
rs2105522569
|
|
NM_015910.7(WDPCP):c.394G>C (p.Gly132Arg)
|
rs1697389440
|
|
NM_015910.7(WDPCP):c.396T>C (p.Gly132=)
|
|
|
NM_015910.7(WDPCP):c.428G>A (p.Gly143Glu)
|
rs1697385242
|
|
NM_015910.7(WDPCP):c.440A>G (p.Glu147Gly)
|
|
|
NM_015910.7(WDPCP):c.442A>G (p.Lys148Glu)
|
rs373247460
|
|
NM_015910.7(WDPCP):c.452T>C (p.Ile151Thr)
|
|
|
NM_015910.7(WDPCP):c.467T>G (p.Val156Gly)
|
|
|
NM_015910.7(WDPCP):c.473A>G (p.Lys158Arg)
|
|
|
NM_015910.7(WDPCP):c.47G>A (p.Ser16Asn)
|
rs1709010736
|
|
NM_015910.7(WDPCP):c.493A>G (p.Ser165Gly)
|
|
|
NM_015910.7(WDPCP):c.499+3A>G
|
|
|
NM_015910.7(WDPCP):c.514A>C (p.Ser172Arg)
|
|
|
NM_015910.7(WDPCP):c.52G>C (p.Ala18Pro)
|
rs1381507084
|
|
NM_015910.7(WDPCP):c.535T>G (p.Leu179Val)
|
|
|
NM_015910.7(WDPCP):c.53C>T (p.Ala18Val)
|
|
|
NM_015910.7(WDPCP):c.549A>T (p.Lys183Asn)
|
rs1697214336
|
|
NM_015910.7(WDPCP):c.551T>C (p.Leu184Pro)
|
rs1198983391
|
|
NM_015910.7(WDPCP):c.5G>A (p.Arg2Lys)
|
|
|
NM_015910.7(WDPCP):c.620C>G (p.Ala207Gly)
|
|
|
NM_015910.7(WDPCP):c.629A>G (p.Tyr210Cys)
|
rs1697208498
|
|
NM_015910.7(WDPCP):c.634-7T>G
|
|
|
NM_015910.7(WDPCP):c.654C>A (p.Pro218=)
|
|
|
NM_015910.7(WDPCP):c.680G>A (p.Arg227Gln)
|
|
|
NM_015910.7(WDPCP):c.680_682del (p.Arg227del)
|
|
|
NM_015910.7(WDPCP):c.688G>T (p.Ala230Ser)
|
rs937072665
|
|
NM_015910.7(WDPCP):c.68C>G (p.Pro23Arg)
|
|
|
NM_015910.7(WDPCP):c.68C>T (p.Pro23Leu)
|
rs141340867
|
|
NM_015910.7(WDPCP):c.704A>C (p.His235Pro)
|
rs567879550
|
|
NM_015910.7(WDPCP):c.71G>A (p.Arg24Lys)
|
|
|
NM_015910.7(WDPCP):c.730C>G (p.Leu244Val)
|
rs1177072150
|
|
NM_015910.7(WDPCP):c.73C>A (p.Gln25Lys)
|
rs1324126661
|
|
NM_015910.7(WDPCP):c.75+3G>C
|
|
|
NM_015910.7(WDPCP):c.76-3C>T
|
rs1700986922
|
|
NM_015910.7(WDPCP):c.760_786del (p.Pro254_Ala262del)
|
rs774995085
|
|
NM_015910.7(WDPCP):c.763A>G (p.Ile255Val)
|
rs764485190
|
|
NM_015910.7(WDPCP):c.763A>T (p.Ile255Phe)
|
rs764485190
|
|
NM_015910.7(WDPCP):c.779A>T (p.Asp260Val)
|
rs2105466361
|
|
NM_015910.7(WDPCP):c.785C>T (p.Ala262Val)
|
|
|
NM_015910.7(WDPCP):c.826-9_826-6del
|
rs2105194923
|
|
NM_015910.7(WDPCP):c.845C>G (p.Thr282Arg)
|
rs1241185405
|
|
NM_015910.7(WDPCP):c.852G>C (p.Trp284Cys)
|
rs2105194171
|
|
NM_015910.7(WDPCP):c.869G>A (p.Arg290His)
|
rs753480088
|
|
NM_015910.7(WDPCP):c.875G>T (p.Gly292Val)
|
|
|
NM_015910.7(WDPCP):c.922G>A (p.Val308Ile)
|
rs2105192919
|
|
NM_015910.7(WDPCP):c.928A>G (p.Lys310Glu)
|
|
|
NM_015910.7(WDPCP):c.955T>G (p.Tyr319Asp)
|
rs863224771
|
|
NM_015910.7(WDPCP):c.970A>T (p.Asn324Tyr)
|
|
|
NM_015910.7(WDPCP):c.99G>C (p.Gln33His)
|
|
|
NM_016464.5(TMEM138):c.129-19C>G
|
rs2135157682
|
|
NM_016464.5(TMEM138):c.129-3C>T
|
|
|
NM_016464.5(TMEM138):c.13A>G (p.Ser5Gly)
|
rs1858060748
|
|
NM_016464.5(TMEM138):c.166A>G (p.Ile56Val)
|
|
|
NM_016464.5(TMEM138):c.176T>G (p.Met59Arg)
|
|
|
NM_016464.5(TMEM138):c.196T>C (p.Phe66Leu)
|
rs1858140604
|
|
NM_016464.5(TMEM138):c.199C>G (p.Gln67Glu)
|
|
|
NM_016464.5(TMEM138):c.209T>A (p.Leu70Gln)
|
rs2135158062
|
|
NM_016464.5(TMEM138):c.217C>T (p.Leu73Phe)
|
rs1858141854
|
|
NM_016464.5(TMEM138):c.227A>G (p.His76Arg)
|
rs1411782602
|
|
NM_016464.5(TMEM138):c.230A>T (p.Lys77Met)
|
|
|
NM_016464.5(TMEM138):c.281C>G (p.Ser94Cys)
|
rs2135158354
|
|
NM_016464.5(TMEM138):c.307C>G (p.Arg103Gly)
|
|
|
NM_016464.5(TMEM138):c.311G>T (p.Trp104Leu)
|
rs2135163033
|
|
NM_016464.5(TMEM138):c.317A>T (p.Asn106Ile)
|
rs932618021
|
|
NM_016464.5(TMEM138):c.322A>G (p.Asn108Asp)
|
|
|
NM_016464.5(TMEM138):c.359T>A (p.Phe120Tyr)
|
|
|
NM_016464.5(TMEM138):c.35C>A (p.Ser12Tyr)
|
rs1350244778
|
|
NM_016464.5(TMEM138):c.377C>T (p.Ala126Val)
|
rs1045760713
|
|
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)
|
rs387907135
|
|
NM_016464.5(TMEM138):c.415G>A (p.Val139Ile)
|
rs141029883
|
|
NM_016464.5(TMEM138):c.430_439del (p.Pro144fs)
|
|
|
NM_016464.5(TMEM138):c.431C>T (p.Pro144Leu)
|
rs2135165565
|
|
NM_016464.5(TMEM138):c.448T>A (p.Ser150Thr)
|
|
|
NM_016464.5(TMEM138):c.449C>G (p.Ser150Cys)
|
|
|
NM_016464.5(TMEM138):c.451_452del (p.Leu151fs)
|
rs890070939
|
|
NM_016464.5(TMEM138):c.454T>A (p.Trp152Arg)
|
|
|
NM_016464.5(TMEM138):c.460C>T (p.Arg154Cys)
|
|
|
NM_016464.5(TMEM138):c.481C>T (p.Arg161Ter)
|
rs1000923142
|
|
NM_016464.5(TMEM138):c.56C>G (p.Ser19Cys)
|
rs1565076874
|
|
NM_016464.5(TMEM138):c.76T>G (p.Ser26Ala)
|
|
|
NM_016464.5(TMEM138):c.80T>C (p.Phe27Ser)
|
|
|
NM_016616.4(NME8):c.1400-?_*15+?dup
|
|
|
NM_016616.5(NME8):c.1007G>C (p.Arg336Pro)
|
rs62001869
|
|
NM_016616.5(NME8):c.1017del (p.Asp340fs)
|
|
|
NM_016616.5(NME8):c.1095T>A (p.Tyr365Ter)
|
|
|
NM_016616.5(NME8):c.1124T>C (p.Ile375Thr)
|
|
|
NM_016616.5(NME8):c.1139+3A>G
|
|
|
NM_016616.5(NME8):c.1139G>T (p.Ser380Ile)
|
|
|
NM_016616.5(NME8):c.1141G>A (p.Gly381Ser)
|
|
|
NM_016616.5(NME8):c.1142G>A (p.Gly381Asp)
|
|
|
NM_016616.5(NME8):c.115T>C (p.Cys39Arg)
|
|
|
NM_016616.5(NME8):c.1167G>C (p.Leu389Phe)
|
|
|
NM_016616.5(NME8):c.1226C>T (p.Ala409Val)
|
|
|
NM_016616.5(NME8):c.1255G>A (p.Ala419Thr)
|
|
|
NM_016616.5(NME8):c.125G>T (p.Cys42Phe)
|
|
|
NM_016616.5(NME8):c.1265C>T (p.Ala422Val)
|
|
|
NM_016616.5(NME8):c.1289A>G (p.Gln430Arg)
|
|
|
NM_016616.5(NME8):c.1294T>C (p.Tyr432His)
|
|
|
NM_016616.5(NME8):c.1295A>G (p.Tyr432Cys)
|
rs1785074705
|
|
NM_016616.5(NME8):c.1299C>T (p.Gly433=)
|
rs1785074828
|
|
NM_016616.5(NME8):c.1303G>A (p.Asp435Asn)
|
|
|
NM_016616.5(NME8):c.1319C>A (p.Ala440Asp)
|
|
|
NM_016616.5(NME8):c.1327G>C (p.Glu443Gln)
|
|
|
NM_016616.5(NME8):c.133A>G (p.Met45Val)
|
|
|
NM_016616.5(NME8):c.134T>C (p.Met45Thr)
|
|
|
NM_016616.5(NME8):c.1352A>C (p.Gln451Pro)
|
|
|
NM_016616.5(NME8):c.1395_1396del (p.Glu467fs)
|
rs758258274
|
|
NM_016616.5(NME8):c.1399G>C (p.Glu467Gln)
|
|
|
NM_016616.5(NME8):c.1400-9T>G
|
|
|
NM_016616.5(NME8):c.1405A>G (p.Ile469Val)
|
|
|
NM_016616.5(NME8):c.1417G>A (p.Val473Ile)
|
|
|
NM_016616.5(NME8):c.1499T>C (p.Val500Ala)
|
|
|
NM_016616.5(NME8):c.151A>T (p.Lys51Ter)
|
rs2131937755
|
|
NM_016616.5(NME8):c.1536G>T (p.Met512Ile)
|
|
|
NM_016616.5(NME8):c.1543G>A (p.Val515Met)
|
|
|
NM_016616.5(NME8):c.1545G>A (p.Val515=)
|
rs1785236272
|
|
NM_016616.5(NME8):c.1549C>G (p.Pro517Ala)
|
|
|
NM_016616.5(NME8):c.1555A>G (p.Met519Val)
|
|
|
NM_016616.5(NME8):c.1563G>A (p.Met521Ile)
|
rs957883475
|
|
NM_016616.5(NME8):c.1579A>G (p.Asn527Asp)
|
rs1390857036
|
|
NM_016616.5(NME8):c.1589C>T (p.Ala530Val)
|
|
|
NM_016616.5(NME8):c.1600C>G (p.Arg534Gly)
|
rs142525551
|
|
NM_016616.5(NME8):c.1601G>A (p.Arg534Gln)
|
rs186068152
|
|
NM_016616.5(NME8):c.161_162insCTGAAAAAAT (p.Asn54_Glu55insTer)
|
|
|
NM_016616.5(NME8):c.1621C>A (p.Pro541Thr)
|
|
|
NM_016616.5(NME8):c.1624G>C (p.Glu542Gln)
|
rs1785238206
|
|
NM_016616.5(NME8):c.1636T>G (p.Leu546Val)
|
|
|
NM_016616.5(NME8):c.1658G>A (p.Arg553Gln)
|
|
|
NM_016616.5(NME8):c.165A>T (p.Glu55Asp)
|
rs2131937781
|
|
NM_016616.5(NME8):c.1702G>C (p.Ala568Pro)
|
|
|
NM_016616.5(NME8):c.171C>G (p.Asn57Lys)
|
rs180763598
|
|
NM_016616.5(NME8):c.1720G>A (p.Ala574Thr)
|
|
|
NM_016616.5(NME8):c.1727A>C (p.Glu576Ala)
|
|
|
NM_016616.5(NME8):c.177_178delinsTA (p.Glu60Lys)
|
rs1784427170
|
|
NM_016616.5(NME8):c.229C>A (p.Pro77Thr)
|
|
|
NM_016616.5(NME8):c.244T>A (p.Cys82Ser)
|
rs771622383
|
|
NM_016616.5(NME8):c.250C>G (p.Pro84Ala)
|
|
|
NM_016616.5(NME8):c.259_264del (p.Leu87_Phe88del)
|
|
|
NM_016616.5(NME8):c.286G>A (p.Glu96Lys)
|
|
|
NM_016616.5(NME8):c.301G>A (p.Ala101Thr)
|
|
|
NM_016616.5(NME8):c.319A>G (p.Asn107Asp)
|
|
|
NM_016616.5(NME8):c.327A>T (p.Lys109Asn)
|
|
|
NM_016616.5(NME8):c.333T>G (p.Ile111Met)
|
|
|
NM_016616.5(NME8):c.367G>T (p.Gly123Cys)
|
rs770842803
|
|
NM_016616.5(NME8):c.382C>T (p.Pro128Ser)
|
rs2131947171
|
|
NM_016616.5(NME8):c.410A>T (p.Asp137Val)
|
|
|
NM_016616.5(NME8):c.438dup (p.Pro147fs)
|
rs778583824
|
|
NM_016616.5(NME8):c.454+1G>A
|
|
|
NM_016616.5(NME8):c.455-2A>G
|
|
|
NM_016616.5(NME8):c.457G>T (p.Glu153Ter)
|
|
|
NM_016616.5(NME8):c.461T>A (p.Leu154Ter)
|
rs1784642730
|
|
NM_016616.5(NME8):c.468T>A (p.Ser156Arg)
|
rs760066403
|
|
NM_016616.5(NME8):c.469A>G (p.Ile157Val)
|
|
|
NM_016616.5(NME8):c.479T>C (p.Ile160Thr)
|
|
|
NM_016616.5(NME8):c.525_528+1del
|
rs1562831419
|
|
NM_016616.5(NME8):c.528+4A>G
|
|
|
NM_016616.5(NME8):c.529-2A>G
|
|
|
NM_016616.5(NME8):c.529A>T (p.Ile177Phe)
|
rs372584831
|
|
NM_016616.5(NME8):c.565A>G (p.Lys189Glu)
|
|
|
NM_016616.5(NME8):c.567G>T (p.Lys189Asn)
|
|
|
NM_016616.5(NME8):c.596A>G (p.Asn199Ser)
|
|
|
NM_016616.5(NME8):c.607C>T (p.Arg203Ter)
|
|
|
NM_016616.5(NME8):c.60G>C (p.Trp20Cys)
|
|
|
NM_016616.5(NME8):c.622_623inv (p.Cys208His)
|
|
|
NM_016616.5(NME8):c.631G>A (p.Glu211Lys)
|
|
|
NM_016616.5(NME8):c.650T>C (p.Met217Thr)
|
|
|
NM_016616.5(NME8):c.652A>T (p.Thr218Ser)
|
|
|
NM_016616.5(NME8):c.692G>A (p.Ser231Asn)
|
|
|
NM_016616.5(NME8):c.725C>T (p.Pro242Leu)
|
|
|
NM_016616.5(NME8):c.733G>C (p.Asp245His)
|
|
|
NM_016616.5(NME8):c.748G>A (p.Glu250Lys)
|
|
|
NM_016616.5(NME8):c.749A>G (p.Glu250Gly)
|
rs1554363589
|
|
NM_016616.5(NME8):c.751C>T (p.Arg251Ter)
|
|
|
NM_016616.5(NME8):c.77A>G (p.Asn26Ser)
|
rs1554360744
|
|
NM_016616.5(NME8):c.793G>T (p.Gly265Ter)
|
|
|
NM_016616.5(NME8):c.82G>A (p.Gly28Ser)
|
|
|
NM_016616.5(NME8):c.83G>A (p.Gly28Asp)
|
|
|
NM_016616.5(NME8):c.845A>G (p.His282Arg)
|
rs2131960176
|
|
NM_016616.5(NME8):c.85T>A (p.Leu29Ile)
|
|
|
NM_016616.5(NME8):c.884A>G (p.Asn295Ser)
|
|
|
NM_016616.5(NME8):c.913C>T (p.Pro305Ser)
|
|
|
NM_016616.5(NME8):c.916G>A (p.Asp306Asn)
|
|
|
NM_016616.5(NME8):c.938T>A (p.Met313Lys)
|
|
|
NM_016616.5(NME8):c.953C>G (p.Thr318Arg)
|
rs113903273
|
|
NM_016616.5(NME8):c.965T>C (p.Leu322Pro)
|
rs1583637336
|
|
NM_016616.5(NME8):c.97G>T (p.Asp33Tyr)
|
|
|
NM_017777.4(MKS1):c.1007T>C (p.Val336Ala)
|
rs772205041
|
|
NM_017777.4(MKS1):c.1023T>C (p.Ala341=)
|
rs2143774558
|
|
NM_017777.4(MKS1):c.1024C>T (p.His342Tyr)
|
rs1357107885
|
|
NM_017777.4(MKS1):c.1036C>T (p.Pro346Ser)
|
rs538164532
|
|
NM_017777.4(MKS1):c.1047G>C (p.Gln349His)
|
|
|
NM_017777.4(MKS1):c.1051C>G (p.Leu351Val)
|
|
|
NM_017777.4(MKS1):c.1058G>A (p.Gly353Glu)
|
|
|
NM_017777.4(MKS1):c.1073G>T (p.Cys358Phe)
|
|
|
NM_017777.4(MKS1):c.1078A>G (p.Thr360Ala)
|
|
|
NM_017777.4(MKS1):c.1085C>G (p.Ser362Cys)
|
|
|
NM_017777.4(MKS1):c.1090G>A (p.Ala364Thr)
|
|
|
NM_017777.4(MKS1):c.1094T>C (p.Met365Thr)
|
|
|
NM_017777.4(MKS1):c.1096G>T (p.Asp366Tyr)
|
rs2143753811
|
|
NM_017777.4(MKS1):c.10A>G (p.Thr4Ala)
|
rs928775924
|
|
NM_017777.4(MKS1):c.1115C>T (p.Ser372Phe)
|
rs1433377596
|
|
NM_017777.4(MKS1):c.1121C>G (p.Pro374Arg)
|
rs773157492
|
|
NM_017777.4(MKS1):c.1121C>T (p.Pro374Leu)
|
rs773157492
|
|
NM_017777.4(MKS1):c.1138T>G (p.Phe380Val)
|
|
|
NM_017777.4(MKS1):c.1192T>C (p.Tyr398His)
|
rs1968629952
|
|
NM_017777.4(MKS1):c.1196G>C (p.Cys399Ser)
|
rs144764478
|
|
NM_017777.4(MKS1):c.1196G>T (p.Cys399Phe)
|
rs144764478
|
|
NM_017777.4(MKS1):c.1229A>T (p.Tyr410Phe)
|
|
|
NM_017777.4(MKS1):c.1231C>T (p.Arg411Cys)
|
|
|
NM_017777.4(MKS1):c.1232G>A (p.Arg411His)
|
rs200679238
|
|
NM_017777.4(MKS1):c.1232G>C (p.Arg411Pro)
|
rs200679238
|
|
NM_017777.4(MKS1):c.1240G>A (p.Gly414Ser)
|
rs1178459205
|
|
NM_017777.4(MKS1):c.1244A>G (p.Tyr415Cys)
|
|
|
NM_017777.4(MKS1):c.1261C>G (p.Pro421Ala)
|
|
|
NM_017777.4(MKS1):c.1265C>T (p.Ala422Val)
|
|
|
NM_017777.4(MKS1):c.1267A>G (p.Thr423Ala)
|
|
|
NM_017777.4(MKS1):c.1282A>T (p.Thr428Ser)
|
|
|
NM_017777.4(MKS1):c.128C>G (p.Pro43Arg)
|
rs1311306088
|
|
NM_017777.4(MKS1):c.1295C>A (p.Ser432Tyr)
|
|
|
NM_017777.4(MKS1):c.1342T>G (p.Phe448Val)
|
|
|
NM_017777.4(MKS1):c.1354G>A (p.Gly452Ser)
|
|
|
NM_017777.4(MKS1):c.1355G>A (p.Gly452Asp)
|
rs2143743650
|
|
NM_017777.4(MKS1):c.1369G>C (p.Glu457Gln)
|
rs1968562983
|
|
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys)
|
rs730882120
|
|
NM_017777.4(MKS1):c.1387C>A (p.Arg463=)
|
|
|
NM_017777.4(MKS1):c.1397G>C (p.Gly466Ala)
|
|
|
NM_017777.4(MKS1):c.1408-28C>G
|
|
|
NM_017777.4(MKS1):c.1414C>G (p.Arg472Gly)
|
rs181513926
|
|
NM_017777.4(MKS1):c.1423C>T (p.Arg475Cys)
|
|
|
NM_017777.4(MKS1):c.1424G>T (p.Arg475Leu)
|
|
|
NM_017777.4(MKS1):c.1436G>T (p.Arg479Leu)
|
|
|
NM_017777.4(MKS1):c.1450G>T (p.Gly484Cys)
|
rs1473936553
|
|
NM_017777.4(MKS1):c.1460C>T (p.Thr487Ile)
|
rs2143737729
|
|
NM_017777.4(MKS1):c.1468T>G (p.Leu490Val)
|
rs2143737631
|
|
NM_017777.4(MKS1):c.1471C>T (p.His491Tyr)
|
|
|
NM_017777.4(MKS1):c.1478T>C (p.Leu493Pro)
|
|
|
NM_017777.4(MKS1):c.148G>A (p.Asp50Asn)
|
|
|
NM_017777.4(MKS1):c.1505C>G (p.Ser502Trp)
|
rs758838271
|
|
NM_017777.4(MKS1):c.1505C>T (p.Ser502Leu)
|
rs758838271
|
|
NM_017777.4(MKS1):c.1507A>G (p.Ser503Gly)
|
rs1328968692
|
|
NM_017777.4(MKS1):c.1513C>T (p.Leu505Phe)
|
rs1968506619
|
|
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs)
|
rs1555596710
|
|
NM_017777.4(MKS1):c.1535T>C (p.Val512Ala)
|
rs1567794194
|
|
NM_017777.4(MKS1):c.1538T>C (p.Leu513Ser)
|
rs1968503638
|
|
NM_017777.4(MKS1):c.1544G>A (p.Arg515His)
|
rs200658872
|
|
NM_017777.4(MKS1):c.1544G>T (p.Arg515Leu)
|
rs200658872
|
|
NM_017777.4(MKS1):c.1567A>G (p.Ser523Gly)
|
rs1968502243
|
|
NM_017777.4(MKS1):c.1588+3A>G
|
|
|
NM_017777.4(MKS1):c.1598G>A (p.Arg533His)
|
rs779093781
|
|
NM_017777.4(MKS1):c.1598G>T (p.Arg533Leu)
|
rs779093781
|
|
NM_017777.4(MKS1):c.1610G>A (p.Arg537His)
|
rs771624307
|
|
NM_017777.4(MKS1):c.1612C>T (p.Arg538Cys)
|
|
|
NM_017777.4(MKS1):c.1613G>C (p.Arg538Pro)
|
|
|
NM_017777.4(MKS1):c.1613G>T (p.Arg538Leu)
|
rs557678962
|
|
NM_017777.4(MKS1):c.1617G>T (p.Met539Ile)
|
|
|
NM_017777.4(MKS1):c.1619del (p.Gln540fs)
|
|
|
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter)
|
rs1555596538
|
|
NM_017777.4(MKS1):c.162G>C (p.Leu54Phe)
|
|
|
NM_017777.4(MKS1):c.1630G>A (p.Glu544Lys)
|
|
|
NM_017777.4(MKS1):c.1635C>A (p.Ser545Arg)
|
|
|
NM_017777.4(MKS1):c.1635C>G (p.Ser545Arg)
|
|
|
NM_017777.4(MKS1):c.191-12T>C
|
|
|
NM_017777.4(MKS1):c.193G>C (p.Gly65Arg)
|
|
|
NM_017777.4(MKS1):c.20G>A (p.Ser7Asn)
|
|
|
NM_017777.4(MKS1):c.216A>C (p.Glu72Asp)
|
rs2143823461
|
|
NM_017777.4(MKS1):c.225G>T (p.Glu75Asp)
|
rs775351056
|
|
NM_017777.4(MKS1):c.229G>A (p.Val77Met)
|
rs1198645467
|
|
NM_017777.4(MKS1):c.23C>G (p.Thr8Ser)
|
|
|
NM_017777.4(MKS1):c.263T>C (p.Phe88Ser)
|
rs886053170
|
|
NM_017777.4(MKS1):c.31G>C (p.Gly11Arg)
|
rs762103206
|
|
NM_017777.4(MKS1):c.31G>T (p.Gly11Trp)
|
|
|
NM_017777.4(MKS1):c.32G>C (p.Gly11Ala)
|
rs375223375
|
|
NM_017777.4(MKS1):c.385A>T (p.Thr129Ser)
|
|
|
NM_017777.4(MKS1):c.38C>A (p.Ala13Glu)
|
rs1969448667
|
|
NM_017777.4(MKS1):c.398G>C (p.Arg133Thr)
|
rs2143819004
|
|
NM_017777.4(MKS1):c.400T>C (p.Tyr134His)
|
rs1969185710
|
|
NM_017777.4(MKS1):c.407A>C (p.Asn136Thr)
|
rs1969184476
|
|
NM_017777.4(MKS1):c.414G>T (p.Glu138Asp)
|
|
|
NM_017777.4(MKS1):c.418-3C>T
|
|
|
NM_017777.4(MKS1):c.442G>C (p.Ala148Pro)
|
rs1969097203
|
|
NM_017777.4(MKS1):c.449A>T (p.Glu150Val)
|
|
|
NM_017777.4(MKS1):c.453_454delinsAA (p.Pro152Thr)
|
rs2143809459
|
|
NM_017777.4(MKS1):c.457T>G (p.Ser153Ala)
|
rs2143809333
|
|
NM_017777.4(MKS1):c.473G>A (p.Arg158Gln)
|
rs373471917
|
|
NM_017777.4(MKS1):c.478G>A (p.Ala160Thr)
|
|
|
NM_017777.4(MKS1):c.47G>A (p.Arg16His)
|
rs1969447926
|
|
NM_017777.4(MKS1):c.490C>T (p.Arg164Cys)
|
|
|
NM_017777.4(MKS1):c.493_494insTTC (p.Arg164_Arg165insLeu)
|
rs2143808702
|
|
NM_017777.4(MKS1):c.50C>T (p.Ser17Phe)
|
|
|
NM_017777.4(MKS1):c.513G>T (p.Gly171=)
|
|
|
NM_017777.4(MKS1):c.521G>A (p.Gly174Asp)
|
rs2143805491
|
|
NM_017777.4(MKS1):c.539G>C (p.Arg180Pro)
|
|
|
NM_017777.4(MKS1):c.53G>A (p.Arg18Gln)
|
|
|
NM_017777.4(MKS1):c.548C>T (p.Thr183Ile)
|
rs775805558
|
|
NM_017777.4(MKS1):c.598C>T (p.Pro200Ser)
|
rs1969060676
|
|
NM_017777.4(MKS1):c.60C>T (p.Pro20=)
|
|
|
NM_017777.4(MKS1):c.618C>G (p.Ile206Met)
|
|
|
NM_017777.4(MKS1):c.62T>G (p.Val21Gly)
|
|
|
NM_017777.4(MKS1):c.632G>A (p.Gly211Glu)
|
|
|
NM_017777.4(MKS1):c.637T>C (p.Tyr213His)
|
rs780721543
|
|
NM_017777.4(MKS1):c.640A>G (p.Lys214Glu)
|
|
|
NM_017777.4(MKS1):c.645-18T>C
|
|
|
NM_017777.4(MKS1):c.645G>C (p.Lys215Asn)
|
rs1969031350
|
|
NM_017777.4(MKS1):c.653A>G (p.Tyr218Cys)
|
|
|
NM_017777.4(MKS1):c.668A>G (p.His223Arg)
|
|
|
NM_017777.4(MKS1):c.676T>C (p.Cys226Arg)
|
|
|
NM_017777.4(MKS1):c.68A>C (p.Asn23Thr)
|
|
|
NM_017777.4(MKS1):c.68A>G (p.Asn23Ser)
|
|
|
NM_017777.4(MKS1):c.695G>C (p.Ser232Thr)
|
rs1422512368
|
|
NM_017777.4(MKS1):c.704T>C (p.Val235Ala)
|
rs557691735
|
|
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)
|
rs201237547
|
|
NM_017777.4(MKS1):c.763G>T (p.Gly255Trp)
|
rs201237547
|
|
NM_017777.4(MKS1):c.787T>C (p.Tyr263His)
|
rs1597991801
|
|
NM_017777.4(MKS1):c.796G>A (p.Asp266Asn)
|
|
|
NM_017777.4(MKS1):c.80+4G>A
|
|
|
NM_017777.4(MKS1):c.80+6C>T
|
|
|
NM_017777.4(MKS1):c.800A>G (p.Asn267Ser)
|
rs757032985
|
|
NM_017777.4(MKS1):c.811C>A (p.His271Asn)
|
rs201771125
|
|
NM_017777.4(MKS1):c.811C>G (p.His271Asp)
|
rs201771125
|
|
NM_017777.4(MKS1):c.813C>A (p.His271Gln)
|
rs201961765
|
|
NM_017777.4(MKS1):c.817C>G (p.Gln273Glu)
|
rs1968968283
|
|
NM_017777.4(MKS1):c.826G>A (p.Glu276Lys)
|
rs1968967475
|
|
NM_017777.4(MKS1):c.847G>C (p.Val283Leu)
|
rs976973396
|
|
NM_017777.4(MKS1):c.852C>G (p.Phe284Leu)
|
|
|
NM_017777.4(MKS1):c.858+4A>C
|
rs1359924062
|
|
NM_017777.4(MKS1):c.85C>T (p.His29Tyr)
|
rs1969410240
|
|
NM_017777.4(MKS1):c.875A>G (p.Lys292Arg)
|
rs1170460125
|
|
NM_017777.4(MKS1):c.892C>T (p.Leu298Phe)
|
|
|
NM_017777.4(MKS1):c.917C>T (p.Thr306Ile)
|
rs1567799806
|
|
NM_017777.4(MKS1):c.92A>G (p.Gln31Arg)
|
|
|
NM_017777.4(MKS1):c.931C>T (p.Leu311Phe)
|
rs2143777929
|
|
NM_017777.4(MKS1):c.932T>A (p.Leu311His)
|
|
|
NM_017777.4(MKS1):c.934C>T (p.Arg312Trp)
|
|
|
NM_017777.4(MKS1):c.935G>A (p.Arg312Gln)
|
|
|
NM_017777.4(MKS1):c.935G>C (p.Arg312Pro)
|
rs369483945
|
|
NM_017777.4(MKS1):c.955G>A (p.Val319Ile)
|
rs1393510784
|
|
NM_017777.4(MKS1):c.977A>G (p.Glu326Gly)
|
|
|
NM_017777.4(MKS1):c.998A>G (p.His333Arg)
|
rs2143774851
|
|
NM_017802.4(DNAAF5):c.1016C>G (p.Pro339Arg)
|
|
|
NM_017802.4(DNAAF5):c.1018C>G (p.Pro340Ala)
|
|
|
NM_017802.4(DNAAF5):c.1030C>T (p.Arg344Cys)
|
rs1583495983
|
|
NM_017802.4(DNAAF5):c.1057G>A (p.Val353Ile)
|
|
|
NM_017802.4(DNAAF5):c.1069C>T (p.Leu357Phe)
|
|
|
NM_017802.4(DNAAF5):c.1108G>A (p.Asp370Asn)
|
rs200573334
|
|
NM_017802.4(DNAAF5):c.1108G>T (p.Asp370Tyr)
|
rs200573334
|
|
NM_017802.4(DNAAF5):c.1127G>A (p.Arg376Gln)
|
rs760488601
|
|
NM_017802.4(DNAAF5):c.1166A>G (p.His389Arg)
|
|
|
NM_017802.4(DNAAF5):c.1171G>A (p.Glu391Lys)
|
|
|
NM_017802.4(DNAAF5):c.1180G>A (p.Ala394Thr)
|
|
|
NM_017802.4(DNAAF5):c.1184C>T (p.Thr395Met)
|
|
|
NM_017802.4(DNAAF5):c.11T>C (p.Leu4Pro)
|
|
|
NM_017802.4(DNAAF5):c.1221G>C (p.Gln407His)
|
rs1782430981
|
|
NM_017802.4(DNAAF5):c.1234G>A (p.Glu412Lys)
|
|
|
NM_017802.4(DNAAF5):c.1255A>G (p.Ser419Gly)
|
rs1327498994
|
|
NM_017802.4(DNAAF5):c.1258-3C>T
|
rs1562388213
|
|
NM_017802.4(DNAAF5):c.1279G>A (p.Val427Ile)
|
rs372983996
|
|
NM_017802.4(DNAAF5):c.1279G>T (p.Val427Phe)
|
rs372983996
|
|
NM_017802.4(DNAAF5):c.130C>T (p.Pro44Ser)
|
|
|
NM_017802.4(DNAAF5):c.1340C>T (p.Thr447Met)
|
rs369586981
|
|
NM_017802.4(DNAAF5):c.1406A>G (p.Gln469Arg)
|
|
|
NM_017802.4(DNAAF5):c.1471G>A (p.Asp491Asn)
|
rs1431048395
|
|
NM_017802.4(DNAAF5):c.150G>T (p.Leu50Phe)
|
|
|
NM_017802.4(DNAAF5):c.1519G>A (p.Val507Met)
|
|
|
NM_017802.4(DNAAF5):c.1537G>A (p.Gly513Ser)
|
|
|
NM_017802.4(DNAAF5):c.1544C>T (p.Ala515Val)
|
rs878855034
|
|
NM_017802.4(DNAAF5):c.1547G>A (p.Ser516Asn)
|
|
|
NM_017802.4(DNAAF5):c.1564G>A (p.Val522Met)
|
|
|
NM_017802.4(DNAAF5):c.1576A>C (p.Ile526Leu)
|
rs778680655
|
|
NM_017802.4(DNAAF5):c.1600G>A (p.Gly534Ser)
|
|
|
NM_017802.4(DNAAF5):c.1616C>T (p.Ala539Val)
|
|
|
NM_017802.4(DNAAF5):c.1645G>A (p.Val549Met)
|
rs746007264
|
|
NM_017802.4(DNAAF5):c.1679G>A (p.Arg560His)
|
rs760358814
|
|
NM_017802.4(DNAAF5):c.1689T>G (p.Ile563Met)
|
|
|
NM_017802.4(DNAAF5):c.1705C>T (p.Arg569Trp)
|
|
|
NM_017802.4(DNAAF5):c.1708G>C (p.Val570Leu)
|
|
|
NM_017802.4(DNAAF5):c.17T>C (p.Val6Ala)
|
|
|
NM_017802.4(DNAAF5):c.1823C>T (p.Thr608Met)
|
|
|
NM_017802.4(DNAAF5):c.1856C>G (p.Pro619Arg)
|
rs755871359
|
|
NM_017802.4(DNAAF5):c.1931G>C (p.Gly644Ala)
|
|
|
NM_017802.4(DNAAF5):c.1978C>A (p.Pro660Thr)
|
rs1778670673
|
|
NM_017802.4(DNAAF5):c.1995T>A (p.His665Gln)
|
|
|
NM_017802.4(DNAAF5):c.2003G>A (p.Arg668Lys)
|
|
|
NM_017802.4(DNAAF5):c.2015C>G (p.Ala672Gly)
|
rs2128084811
|
|
NM_017802.4(DNAAF5):c.2069T>C (p.Leu690Pro)
|
rs761120794
|
|
NM_017802.4(DNAAF5):c.2082+5G>A
|
rs1027651909
|
|
NM_017802.4(DNAAF5):c.2129_2140del (p.Leu710_Ser714delinsPro)
|
|
|
NM_017802.4(DNAAF5):c.215C>T (p.Pro72Leu)
|
rs2128538232
|
|
NM_017802.4(DNAAF5):c.2167C>T (p.Arg723Cys)
|
|
|
NM_017802.4(DNAAF5):c.2168G>A (p.Arg723His)
|
|
|
NM_017802.4(DNAAF5):c.2168G>C (p.Arg723Pro)
|
|
|
NM_017802.4(DNAAF5):c.2176A>G (p.Asn726Asp)
|
|
|
NM_017802.4(DNAAF5):c.218G>C (p.Trp73Ser)
|
|
|
NM_017802.4(DNAAF5):c.2197G>A (p.Gly733Ser)
|
rs2128085181
|
|
NM_017802.4(DNAAF5):c.2230A>G (p.Ile744Val)
|
|
|
NM_017802.4(DNAAF5):c.2324A>G (p.Lys775Arg)
|
|
|
NM_017802.4(DNAAF5):c.2371T>C (p.Tyr791His)
|
rs2128086438
|
|
NM_017802.4(DNAAF5):c.2377G>C (p.Glu793Gln)
|
rs2128086442
|
|
NM_017802.4(DNAAF5):c.23A>C (p.Glu8Ala)
|
|
|
NM_017802.4(DNAAF5):c.2401C>G (p.Pro801Ala)
|
|
|
NM_017802.4(DNAAF5):c.2423C>T (p.Ala808Val)
|
rs1778888401
|
|
NM_017802.4(DNAAF5):c.2479G>C (p.Glu827Gln)
|
rs1304156174
|
|
NM_017802.4(DNAAF5):c.2491G>A (p.Val831Ile)
|
|
|
NM_017802.4(DNAAF5):c.259G>T (p.Asp87Tyr)
|
|
|
NM_017802.4(DNAAF5):c.281C>G (p.Ala94Gly)
|
|
|
NM_017802.4(DNAAF5):c.28G>C (p.Val10Leu)
|
rs577934097
|
|
NM_017802.4(DNAAF5):c.328C>T (p.Pro110Ser)
|
|
|
NM_017802.4(DNAAF5):c.334G>A (p.Asp112Asn)
|
rs1060502833
|
|
NM_017802.4(DNAAF5):c.35C>A (p.Ala12Asp)
|
|
|
NM_017802.4(DNAAF5):c.367G>T (p.Ala123Ser)
|
rs1554248797
|
|
NM_017802.4(DNAAF5):c.388C>T (p.Pro130Ser)
|
|
|
NM_017802.4(DNAAF5):c.392C>G (p.Ala131Gly)
|
rs1347850043
|
|
NM_017802.4(DNAAF5):c.410C>T (p.Ala137Val)
|
|
|
NM_017802.4(DNAAF5):c.432_455dup (p.Ala152_Val153insLeuValGlnLeuLeuGlyLeuAla)
|
|
|
NM_017802.4(DNAAF5):c.437T>C (p.Val146Ala)
|
rs1781349143
|
|
NM_017802.4(DNAAF5):c.454G>A (p.Ala152Thr)
|
rs981760144
|
|
NM_017802.4(DNAAF5):c.454G>T (p.Ala152Ser)
|
rs981760144
|
|
NM_017802.4(DNAAF5):c.464T>G (p.Leu155Arg)
|
rs2128538515
|
|
NM_017802.4(DNAAF5):c.526C>T (p.Leu176Phe)
|
|
|
NM_017802.4(DNAAF5):c.533C>T (p.Pro178Leu)
|
|
|
NM_017802.4(DNAAF5):c.538G>A (p.Ala180Thr)
|
rs1562369767
|
|
NM_017802.4(DNAAF5):c.556A>G (p.Ser186Gly)
|
|
|
NM_017802.4(DNAAF5):c.55G>T (p.Ala19Ser)
|
rs1164221686
|
|
NM_017802.4(DNAAF5):c.568G>A (p.Ala190Thr)
|
rs1781361793
|
|
NM_017802.4(DNAAF5):c.575C>G (p.Ala192Gly)
|
|
|
NM_017802.4(DNAAF5):c.587C>T (p.Ala196Val)
|
rs1369424681
|
|
NM_017802.4(DNAAF5):c.5C>A (p.Ala2Glu)
|
rs2128537985
|
|
NM_017802.4(DNAAF5):c.628G>A (p.Gly210Arg)
|
|
|
NM_017802.4(DNAAF5):c.641A>G (p.Gln214Arg)
|
rs1060502834
|
|
NM_017802.4(DNAAF5):c.643A>T (p.Thr215Ser)
|
|
|
NM_017802.4(DNAAF5):c.671G>A (p.Arg224His)
|
rs1395390854
|
|
NM_017802.4(DNAAF5):c.676G>C (p.Ala226Pro)
|
rs780016631
|
|
NM_017802.4(DNAAF5):c.697G>T (p.Ala233Ser)
|
rs149139347
|
|
NM_017802.4(DNAAF5):c.743C>A (p.Ser248Tyr)
|
|
|
NM_017802.4(DNAAF5):c.745C>T (p.His249Tyr)
|
rs1562372184
|
|
NM_017802.4(DNAAF5):c.772G>A (p.Val258Ile)
|
|
|
NM_017802.4(DNAAF5):c.788G>T (p.Arg263Leu)
|
rs201059622
|
|
NM_017802.4(DNAAF5):c.800C>T (p.Ser267Phe)
|
rs1583482187
|
|
NM_017802.4(DNAAF5):c.805G>A (p.Val269Met)
|
|
|
NM_017802.4(DNAAF5):c.827T>G (p.Leu276Arg)
|
|
|
NM_017802.4(DNAAF5):c.830G>A (p.Arg277His)
|
rs760388668
|
|
NM_017802.4(DNAAF5):c.832G>A (p.Asp278Asn)
|
rs1583482252
|
|
NM_017802.4(DNAAF5):c.86G>A (p.Arg29His)
|
|
|
NM_017802.4(DNAAF5):c.879C>A (p.Ser293Arg)
|
|
|
NM_017802.4(DNAAF5):c.889G>A (p.Glu297Lys)
|
rs753466171
|
|
NM_017802.4(DNAAF5):c.905+4C>T
|
rs377210150
|
|
NM_017802.4(DNAAF5):c.905+5G>A
|
rs781625543
|
|
NM_017802.4(DNAAF5):c.934G>A (p.Val312Ile)
|
|
|
NM_017802.4(DNAAF5):c.938G>T (p.Gly313Val)
|
|
|
NM_017950.4(CCDC40):c.1040A>G (p.Lys347Arg)
|
|
|
NM_017950.4(CCDC40):c.1048G>A (p.Asp350Asn)
|
|
|
NM_017950.4(CCDC40):c.1051C>G (p.Arg351Gly)
|
|
|
NM_017950.4(CCDC40):c.1108C>T (p.Arg370Cys)
|
|
|
NM_017950.4(CCDC40):c.1136C>A (p.Ala379Asp)
|
rs976460197
|
|
NM_017950.4(CCDC40):c.1142A>G (p.Asn381Ser)
|
rs1290134661
|
|
NM_017950.4(CCDC40):c.1146G>C (p.Glu382Asp)
|
|
|
NM_017950.4(CCDC40):c.1153A>C (p.Lys385Gln)
|
|
|
NM_017950.4(CCDC40):c.1160-3C>T
|
rs2143648368
|
|
NM_017950.4(CCDC40):c.1163C>A (p.Ala388Glu)
|
rs199948075
|
|
NM_017950.4(CCDC40):c.11C>T (p.Pro4Leu)
|
rs776947186
|
|
NM_017950.4(CCDC40):c.1212_1220del (p.Met404_Asn406del)
|
rs775672044
|
|
NM_017950.4(CCDC40):c.1222G>A (p.Asp408Asn)
|
|
|
NM_017950.4(CCDC40):c.1249G>A (p.Val417Met)
|
rs535461092
|
|
NM_017950.4(CCDC40):c.1258C>G (p.Gln420Glu)
|
|
|
NM_017950.4(CCDC40):c.1259A>G (p.Gln420Arg)
|
rs1060501720
|
|
NM_017950.4(CCDC40):c.1280C>A (p.Thr427Lys)
|
|
|
NM_017950.4(CCDC40):c.1286G>C (p.Arg429Thr)
|
|
|
NM_017950.4(CCDC40):c.1302C>G (p.Ile434Met)
|
|
|
NM_017950.4(CCDC40):c.1345C>G (p.Arg449Gly)
|
rs387907093
|
|
NM_017950.4(CCDC40):c.1354C>A (p.Gln452Lys)
|
|
|
NM_017950.4(CCDC40):c.13G>A (p.Gly5Ser)
|
|
|
NM_017950.4(CCDC40):c.1441-10T>C
|
|
|
NM_017950.4(CCDC40):c.1467C>A (p.Ser489Arg)
|
rs200154414
|
|
NM_017950.4(CCDC40):c.1480C>T (p.Arg494Cys)
|
rs200858130
|
|
NM_017950.4(CCDC40):c.1486A>T (p.Met496Leu)
|
|
|
NM_017950.4(CCDC40):c.1488G>A (p.Met496Ile)
|
rs774462299
|
|
NM_017950.4(CCDC40):c.1530C>G (p.Asp510Glu)
|
rs368929374
|
|
NM_017950.4(CCDC40):c.1537C>T (p.His513Tyr)
|
rs2038023446
|
|
NM_017950.4(CCDC40):c.1561A>G (p.Arg521Gly)
|
rs2038024808
|
|
NM_017950.4(CCDC40):c.1565G>A (p.Gly522Glu)
|
rs947035837
|
|
NM_017950.4(CCDC40):c.1607C>G (p.Ala536Gly)
|
|
|
NM_017950.4(CCDC40):c.1618T>C (p.Ser540Pro)
|
rs1598533116
|
|
NM_017950.4(CCDC40):c.1714T>C (p.Cys572Arg)
|
rs199786478
|
|
NM_017950.4(CCDC40):c.1771C>G (p.Gln591Glu)
|
|
|
NM_017950.4(CCDC40):c.1772A>G (p.Gln591Arg)
|
rs1568706447
|
|
NM_017950.4(CCDC40):c.1780G>C (p.Glu594Gln)
|
rs1314509837
|
|
NM_017950.4(CCDC40):c.1806+5G>A
|
|
|
NM_017950.4(CCDC40):c.1861G>A (p.Glu621Lys)
|
|
|
NM_017950.4(CCDC40):c.1873A>G (p.Arg625Gly)
|
rs2038460577
|
|
NM_017950.4(CCDC40):c.1885G>C (p.Asp629His)
|
rs2038461062
|
|
NM_017950.4(CCDC40):c.1924_1926del (p.Ser642del)
|
rs750295453
|
|
NM_017950.4(CCDC40):c.1949A>C (p.Asn650Thr)
|
rs201064110
|
|
NM_017950.4(CCDC40):c.1989+5G>A
|
|
|
NM_017950.4(CCDC40):c.198G>T (p.Glu66Asp)
|
|
|
NM_017950.4(CCDC40):c.2053A>G (p.Ser685Gly)
|
|
|
NM_017950.4(CCDC40):c.2071C>T (p.His691Tyr)
|
|
|
NM_017950.4(CCDC40):c.2104G>T (p.Val702Leu)
|
rs748948064
|
|
NM_017950.4(CCDC40):c.2117A>G (p.Asn706Ser)
|
rs2143744575
|
|
NM_017950.4(CCDC40):c.2121G>C (p.Glu707Asp)
|
rs981844099
|
|
NM_017950.4(CCDC40):c.2126T>C (p.Ile709Thr)
|
rs759104776
|
|
NM_017950.4(CCDC40):c.2170G>A (p.Glu724Lys)
|
|
|
NM_017950.4(CCDC40):c.2185C>T (p.Leu729Phe)
|
|
|
NM_017950.4(CCDC40):c.2186T>A (p.Leu729His)
|
|
|
NM_017950.4(CCDC40):c.2191A>G (p.Asn731Asp)
|
|
|
NM_017950.4(CCDC40):c.2224T>C (p.Ser742Pro)
|
|
|
NM_017950.4(CCDC40):c.2260C>T (p.Leu754Phe)
|
|
|
NM_017950.4(CCDC40):c.2299G>A (p.Asp767Asn)
|
|
|
NM_017950.4(CCDC40):c.229G>A (p.Val77Met)
|
|
|
NM_017950.4(CCDC40):c.232G>A (p.Glu78Lys)
|
rs1568667170
|
|
NM_017950.4(CCDC40):c.2336G>T (p.Arg779Leu)
|
rs183809462
|
|
NM_017950.4(CCDC40):c.2395G>A (p.Asp799Asn)
|
rs757730799
|
|
NM_017950.4(CCDC40):c.2488G>A (p.Glu830Lys)
|
|
|
NM_017950.4(CCDC40):c.2507T>C (p.Leu836Pro)
|
|
|
NM_017950.4(CCDC40):c.2524A>C (p.Lys842Gln)
|
rs2038615740
|
|
NM_017950.4(CCDC40):c.2539A>T (p.Met847Leu)
|
rs376872623
|
|
NM_017950.4(CCDC40):c.2552G>A (p.Arg851Gln)
|
rs745599843
|
|
NM_017950.4(CCDC40):c.2566G>C (p.Glu856Gln)
|
rs1000468581
|
|
NM_017950.4(CCDC40):c.2615T>C (p.Leu872Pro)
|
|
|
NM_017950.4(CCDC40):c.2619+5G>A
|
|
|
NM_017950.4(CCDC40):c.2693A>G (p.Asn898Ser)
|
|
|
NM_017950.4(CCDC40):c.2721T>G (p.Ile907Met)
|
rs2038663366
|
|
NM_017950.4(CCDC40):c.274G>A (p.Glu92Lys)
|
|
|
NM_017950.4(CCDC40):c.2779G>A (p.Glu927Lys)
|
|
|
NM_017950.4(CCDC40):c.2786G>C (p.Gly929Ala)
|
|
|
NM_017950.4(CCDC40):c.2792C>T (p.Thr931Met)
|
rs202141933
|
|
NM_017950.4(CCDC40):c.2801G>A (p.Arg934Gln)
|
rs143374313
|
|
NM_017950.4(CCDC40):c.2803G>A (p.Ala935Thr)
|
|
|
NM_017950.4(CCDC40):c.2815G>A (p.Glu939Lys)
|
|
|
NM_017950.4(CCDC40):c.281A>T (p.Glu94Val)
|
rs2143577082
|
|
NM_017950.4(CCDC40):c.2832G>A (p.Lys944=)
|
rs2143759904
|
|
NM_017950.4(CCDC40):c.2836A>G (p.Arg946Gly)
|
rs2143775943
|
|
NM_017950.4(CCDC40):c.2842G>A (p.Gly948Arg)
|
|
|
NM_017950.4(CCDC40):c.2891C>T (p.Ala964Val)
|
|
|
NM_017950.4(CCDC40):c.2907G>C (p.Glu969Asp)
|
|
|
NM_017950.4(CCDC40):c.2953G>T (p.Ala985Ser)
|
|
|
NM_017950.4(CCDC40):c.2963G>A (p.Arg988His)
|
rs778921041
|
|
NM_017950.4(CCDC40):c.2976C>A (p.His992Gln)
|
rs2038791503
|
|
NM_017950.4(CCDC40):c.2995C>A (p.Arg999Ser)
|
|
|
NM_017950.4(CCDC40):c.2995C>T (p.Arg999Cys)
|
rs546342011
|
|
NM_017950.4(CCDC40):c.2T>G (p.Met1Arg)
|
|
|
NM_017950.4(CCDC40):c.3017G>A (p.Arg1006His)
|
|
|
NM_017950.4(CCDC40):c.3028G>A (p.Asp1010Asn)
|
|
|
NM_017950.4(CCDC40):c.3038C>T (p.Thr1013Ile)
|
rs1257141883
|
|
NM_017950.4(CCDC40):c.3109C>G (p.Leu1037Val)
|
rs886038640
|
|
NM_017950.4(CCDC40):c.3133G>A (p.Asp1045Asn)
|
|
|
NM_017950.4(CCDC40):c.3183C>T (p.Asn1061=)
|
rs1567819545
|
|
NM_017950.4(CCDC40):c.3250G>C (p.Val1084Leu)
|
rs546314844
|
|
NM_017950.4(CCDC40):c.3266C>A (p.Ser1089Tyr)
|
rs762447884
|
|
NM_017950.4(CCDC40):c.3274T>C (p.Ser1092Pro)
|
|
|
NM_017950.4(CCDC40):c.3277C>G (p.Leu1093Val)
|
rs1060501721
|
|
NM_017950.4(CCDC40):c.3289C>T (p.Arg1097Cys)
|
|
|
NM_017950.4(CCDC40):c.3296G>A (p.Arg1099His)
|
|
|
NM_017950.4(CCDC40):c.3338G>T (p.Arg1113Leu)
|
rs368814379
|
|
NM_017950.4(CCDC40):c.335C>A (p.Thr112Lys)
|
|
|
NM_017950.4(CCDC40):c.3363C>A (p.Phe1121Leu)
|
rs367605498
|
|
NM_017950.4(CCDC40):c.344C>T (p.Pro115Leu)
|
rs754194373
|
|
NM_017950.4(CCDC40):c.355C>A (p.Pro119Thr)
|
rs750628862
|
|
NM_017950.4(CCDC40):c.398G>C (p.Ser133Thr)
|
rs769499619
|
|
NM_017950.4(CCDC40):c.400G>A (p.Gly134Arg)
|
|
|
NM_017950.4(CCDC40):c.403G>A (p.Glu135Lys)
|
|
|
NM_017950.4(CCDC40):c.409G>T (p.Gly137Cys)
|
|
|
NM_017950.4(CCDC40):c.40G>A (p.Glu14Lys)
|
rs2143570150
|
|
NM_017950.4(CCDC40):c.479A>G (p.Glu160Gly)
|
rs2037239982
|
|
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg)
|
rs770564150
|
|
NM_017950.4(CCDC40):c.552+6T>A
|
rs2037242845
|
|
NM_017950.4(CCDC40):c.565G>A (p.Glu189Lys)
|
rs372456780
|
|
NM_017950.4(CCDC40):c.569A>C (p.Glu190Ala)
|
|
|
NM_017950.4(CCDC40):c.606C>G (p.His202Gln)
|
|
|
NM_017950.4(CCDC40):c.613C>T (p.Arg205Trp)
|
rs753704549
|
|
NM_017950.4(CCDC40):c.635T>G (p.Ile212Ser)
|
|
|
NM_017950.4(CCDC40):c.676+2_676+3dup
|
rs756160039
|
|
NM_017950.4(CCDC40):c.676+4C>A
|
rs2037454418
|
|
NM_017950.4(CCDC40):c.676+5C>A
|
rs776691453
|
|
NM_017950.4(CCDC40):c.682C>T (p.Pro228Ser)
|
rs878855043
|
|
NM_017950.4(CCDC40):c.691G>A (p.Val231Met)
|
|
|
NM_017950.4(CCDC40):c.694C>T (p.Pro232Ser)
|
|
|
NM_017950.4(CCDC40):c.757A>G (p.Thr253Ala)
|
|
|
NM_017950.4(CCDC40):c.769G>A (p.Ala257Thr)
|
|
|
NM_017950.4(CCDC40):c.774G>A (p.Met258Ile)
|
|
|
NM_017950.4(CCDC40):c.805G>A (p.Glu269Lys)
|
|
|
NM_017950.4(CCDC40):c.93+4A>G
|
|
|
NM_017950.4(CCDC40):c.931C>A (p.Gln311Lys)
|
rs1555891851
|
|
NM_017950.4(CCDC40):c.941T>C (p.Val314Ala)
|
|
|
NM_017950.4(CCDC40):c.950C>G (p.Thr317Ser)
|
rs751751403
|
|
NM_017950.4(CCDC40):c.950C>T (p.Thr317Ile)
|
|
|
NM_017950.4(CCDC40):c.970C>T (p.Arg324Trp)
|
|
|
NM_017950.4(CCDC40):c.985G>T (p.Val329Leu)
|
rs745445950
|
|
NM_018051.5(DYNC2I1):c.1000G>A (p.Glu334Lys)
|
|
|
NM_018051.5(DYNC2I1):c.1003G>A (p.Glu335Lys)
|
|
|
NM_018051.5(DYNC2I1):c.1026G>C (p.Lys342Asn)
|
|
|
NM_018051.5(DYNC2I1):c.1084T>G (p.Leu362Val)
|
|
|
NM_018051.5(DYNC2I1):c.116A>G (p.Lys39Arg)
|
rs528452983
|
|
NM_018051.5(DYNC2I1):c.1189A>T (p.Asn397Tyr)
|
|
|
NM_018051.5(DYNC2I1):c.1221A>C (p.Glu407Asp)
|
rs1846346410
|
|
NM_018051.5(DYNC2I1):c.1267A>G (p.Ile423Val)
|
|
|
NM_018051.5(DYNC2I1):c.1483C>T (p.Arg495Trp)
|
|
|
NM_018051.5(DYNC2I1):c.1505C>T (p.Ser502Leu)
|
rs776188298
|
|
NM_018051.5(DYNC2I1):c.1519C>G (p.Leu507Val)
|
rs529737662
|
|
NM_018051.5(DYNC2I1):c.1600C>G (p.Gln534Glu)
|
|
|
NM_018051.5(DYNC2I1):c.1604G>A (p.Cys535Tyr)
|
rs2129484911
|
|
NM_018051.5(DYNC2I1):c.162G>C (p.Glu54Asp)
|
|
|
NM_018051.5(DYNC2I1):c.1633C>G (p.Gln545Glu)
|
|
|
NM_018051.5(DYNC2I1):c.1637C>T (p.Thr546Met)
|
rs1847645148
|
|
NM_018051.5(DYNC2I1):c.1703G>A (p.Gly568Asp)
|
|
|
NM_018051.5(DYNC2I1):c.1718A>G (p.Asp573Gly)
|
|
|
NM_018051.5(DYNC2I1):c.1721C>T (p.Thr574Ile)
|
rs374402136
|
|
NM_018051.5(DYNC2I1):c.1744A>G (p.Lys582Glu)
|
|
|
NM_018051.5(DYNC2I1):c.1791+16A>G
|
|
|
NM_018051.5(DYNC2I1):c.1916T>C (p.Leu639Pro)
|
rs761412635
|
|
NM_018051.5(DYNC2I1):c.1934CCT[1] (p.Ser646del)
|
rs774798770
|
|
NM_018051.5(DYNC2I1):c.2024A>C (p.Lys675Thr)
|
|
|
NM_018051.5(DYNC2I1):c.2099C>T (p.Thr700Met)
|
|
|
NM_018051.5(DYNC2I1):c.2134C>G (p.Leu712Val)
|
|
|
NM_018051.5(DYNC2I1):c.2135T>C (p.Leu712Pro)
|
rs2129486673
|
|
NM_018051.5(DYNC2I1):c.2143G>A (p.Gly715Arg)
|
|
|
NM_018051.5(DYNC2I1):c.2146A>T (p.Thr716Ser)
|
|
|
NM_018051.5(DYNC2I1):c.2153A>G (p.His718Arg)
|
rs1400146732
|
|
NM_018051.5(DYNC2I1):c.2172G>C (p.Trp724Cys)
|
rs1459822084
|
|
NM_018051.5(DYNC2I1):c.2236C>T (p.Arg746Trp)
|
|
|
NM_018051.5(DYNC2I1):c.2256C>T (p.Thr752=)
|
|
|
NM_018051.5(DYNC2I1):c.2257+5del
|
rs1849333929
|
|
NM_018051.5(DYNC2I1):c.2257G>A (p.Asp753Asn)
|
|
|
NM_018051.5(DYNC2I1):c.2279A>C (p.Asn760Thr)
|
|
|
NM_018051.5(DYNC2I1):c.2318C>T (p.Thr773Met)
|
|
|
NM_018051.5(DYNC2I1):c.2347C>T (p.Leu783Phe)
|
|
|
NM_018051.5(DYNC2I1):c.2450C>T (p.Pro817Leu)
|
|
|
NM_018051.5(DYNC2I1):c.2461A>G (p.Ile821Val)
|
|
|
NM_018051.5(DYNC2I1):c.2638A>G (p.Thr880Ala)
|
rs1850519978
|
|
NM_018051.5(DYNC2I1):c.2653A>G (p.Ile885Val)
|
|
|
NM_018051.5(DYNC2I1):c.2656A>G (p.Ser886Gly)
|
|
|
NM_018051.5(DYNC2I1):c.2663G>A (p.Gly888Asp)
|
rs1850547827
|
|
NM_018051.5(DYNC2I1):c.2666C>T (p.Thr889Ile)
|
|
|
NM_018051.5(DYNC2I1):c.2719A>G (p.Ile907Val)
|
|
|
NM_018051.5(DYNC2I1):c.2726C>T (p.Pro909Leu)
|
|
|
NM_018051.5(DYNC2I1):c.2771T>C (p.Ile924Thr)
|
|
|
NM_018051.5(DYNC2I1):c.2872A>G (p.Thr958Ala)
|
|
|
NM_018051.5(DYNC2I1):c.2885G>T (p.Trp962Leu)
|
rs774062652
|
|
NM_018051.5(DYNC2I1):c.2926A>G (p.Thr976Ala)
|
rs1851430228
|
|
NM_018051.5(DYNC2I1):c.295C>T (p.Arg99Trp)
|
|
|
NM_018051.5(DYNC2I1):c.296G>C (p.Arg99Pro)
|
|
|
NM_018051.5(DYNC2I1):c.2999A>T (p.Asn1000Ile)
|
rs749324450
|
|
NM_018051.5(DYNC2I1):c.3019G>A (p.Ala1007Thr)
|
|
|
NM_018051.5(DYNC2I1):c.3020C>T (p.Ala1007Val)
|
|
|
NM_018051.5(DYNC2I1):c.3086C>T (p.Ser1029Phe)
|
rs1331796469
|
|
NM_018051.5(DYNC2I1):c.3177G>A (p.Trp1059Ter)
|
|
|
NM_018051.5(DYNC2I1):c.3184G>A (p.Gly1062Arg)
|
|
|
NM_018051.5(DYNC2I1):c.35C>T (p.Thr12Ile)
|
|
|
NM_018051.5(DYNC2I1):c.418C>G (p.His140Asp)
|
rs1315103377
|
|
NM_018051.5(DYNC2I1):c.470C>T (p.Ala157Val)
|
|
|
NM_018051.5(DYNC2I1):c.485G>T (p.Arg162Leu)
|
|
|
NM_018051.5(DYNC2I1):c.500T>A (p.Val167Glu)
|
|
|
NM_018051.5(DYNC2I1):c.625G>C (p.Glu209Gln)
|
|
|
NM_018051.5(DYNC2I1):c.629_630delinsGC (p.Glu210Gly)
|
|
|
NM_018051.5(DYNC2I1):c.667C>G (p.Arg223Gly)
|
rs760704544
|
|
NM_018051.5(DYNC2I1):c.691A>C (p.Ser231Arg)
|
|
|
NM_018051.5(DYNC2I1):c.701G>T (p.Arg234Met)
|
|
|
NM_018051.5(DYNC2I1):c.762A>C (p.Glu254Asp)
|
|
|
NM_018051.5(DYNC2I1):c.785AAG[1] (p.Glu263del)
|
|
|
NM_018051.5(DYNC2I1):c.822C>A (p.Ser274Arg)
|
rs2129478812
|
|
NM_018051.5(DYNC2I1):c.829G>T (p.Asp277Tyr)
|
rs2129478814
|
|
NM_018051.5(DYNC2I1):c.845C>T (p.Ser282Leu)
|
|
|
NM_018051.5(DYNC2I1):c.868A>G (p.Arg290Gly)
|
|
|
NM_018051.5(DYNC2I1):c.884G>C (p.Gly295Ala)
|
|
|
NM_018051.5(DYNC2I1):c.884G>T (p.Gly295Val)
|
|
|
NM_018051.5(DYNC2I1):c.923G>T (p.Gly308Val)
|
|
|
NM_018051.5(DYNC2I1):c.925A>T (p.Thr309Ser)
|
|
|
NM_018051.5(DYNC2I1):c.955A>G (p.Arg319Gly)
|
|
|
NM_018076.5(ODAD2):c.1004A>C (p.Glu335Ala)
|
|
|
NM_018076.5(ODAD2):c.1063C>G (p.Gln355Glu)
|
rs2132985441
|
|
NM_018076.5(ODAD2):c.1075T>C (p.Trp359Arg)
|
|
|
NM_018076.5(ODAD2):c.1108A>C (p.Ser370Arg)
|
|
|
NM_018076.5(ODAD2):c.1186A>G (p.Lys396Glu)
|
rs1588631257
|
|
NM_018076.5(ODAD2):c.1273G>A (p.Asp425Asn)
|
|
|
NM_018076.5(ODAD2):c.1298A>G (p.Asp433Gly)
|
|
|
NM_018076.5(ODAD2):c.1345T>G (p.Ser449Ala)
|
rs1848145701
|
|
NM_018076.5(ODAD2):c.1427T>G (p.Met476Arg)
|
rs2132637044
|
|
NM_018076.5(ODAD2):c.1454C>G (p.Thr485Ser)
|
rs763275340
|
|
NM_018076.5(ODAD2):c.1468A>G (p.Ile490Val)
|
rs1358692299
|
|
NM_018076.5(ODAD2):c.1533+6T>C
|
rs1323971082
|
|
NM_018076.5(ODAD2):c.1567C>T (p.His523Tyr)
|
rs770607602
|
|
NM_018076.5(ODAD2):c.1592T>G (p.Ile531Ser)
|
rs370164015
|
|
NM_018076.5(ODAD2):c.1615A>G (p.Ile539Val)
|
rs1237810719
|
|
NM_018076.5(ODAD2):c.1643A>G (p.His548Arg)
|
|
|
NM_018076.5(ODAD2):c.1678G>A (p.Ala560Thr)
|
|
|
NM_018076.5(ODAD2):c.1702G>A (p.Ala568Thr)
|
|
|
NM_018076.5(ODAD2):c.1721A>G (p.Gln574Arg)
|
|
|
NM_018076.5(ODAD2):c.1745T>A (p.Val582Asp)
|
|
|
NM_018076.5(ODAD2):c.1750C>G (p.Leu584Val)
|
rs558576572
|
|
NM_018076.5(ODAD2):c.1787A>C (p.Gln596Pro)
|
rs772227784
|
|
NM_018076.5(ODAD2):c.1801G>A (p.Glu601Lys)
|
|
|
NM_018076.5(ODAD2):c.1813G>A (p.Val605Met)
|
|
|
NM_018076.5(ODAD2):c.1826G>A (p.Arg609His)
|
|
|
NM_018076.5(ODAD2):c.1915C>G (p.Arg639Gly)
|
|
|
NM_018076.5(ODAD2):c.1985A>T (p.Glu662Val)
|
rs749842787
|
|
NM_018076.5(ODAD2):c.2038A>C (p.Lys680Gln)
|
|
|
NM_018076.5(ODAD2):c.2063A>G (p.Gln688Arg)
|
rs2132563198
|
|
NM_018076.5(ODAD2):c.2080G>A (p.Ala694Thr)
|
rs556371991
|
|
NM_018076.5(ODAD2):c.2080G>C (p.Ala694Pro)
|
rs556371991
|
|
NM_018076.5(ODAD2):c.2095C>G (p.Gln699Glu)
|
rs1232109914
|
|
NM_018076.5(ODAD2):c.2128G>A (p.Val710Ile)
|
|
|
NM_018076.5(ODAD2):c.2162G>A (p.Ser721Asn)
|
|
|
NM_018076.5(ODAD2):c.2260G>A (p.Glu754Lys)
|
rs200299616
|
|
NM_018076.5(ODAD2):c.2270C>A (p.Ala757Asp)
|
rs763561367
|
|
NM_018076.5(ODAD2):c.2276A>T (p.Glu759Val)
|
rs878855047
|
|
NM_018076.5(ODAD2):c.2414T>C (p.Leu805Pro)
|
rs1845871886
|
|
NM_018076.5(ODAD2):c.242C>T (p.Ser81Leu)
|
rs769690437
|
|
NM_018076.5(ODAD2):c.2496-13G>A
|
|
|
NM_018076.5(ODAD2):c.2496-3T>C
|
rs1843705235
|
|
NM_018076.5(ODAD2):c.251T>A (p.Val84Asp)
|
|
|
NM_018076.5(ODAD2):c.256A>G (p.Lys86Glu)
|
|
|
NM_018076.5(ODAD2):c.2593T>C (p.Cys865Arg)
|
|
|
NM_018076.5(ODAD2):c.2593T>G (p.Cys865Gly)
|
|
|
NM_018076.5(ODAD2):c.2660T>C (p.Val887Ala)
|
rs778348315
|
|
NM_018076.5(ODAD2):c.2731G>T (p.Asp911Tyr)
|
|
|
NM_018076.5(ODAD2):c.279T>G (p.Phe93Leu)
|
rs1588667030
|
|
NM_018076.5(ODAD2):c.2800-3C>G
|
|
|
NM_018076.5(ODAD2):c.284C>G (p.Ser95Cys)
|
|
|
NM_018076.5(ODAD2):c.2908C>A (p.Arg970Ser)
|
rs776293552
|
|
NM_018076.5(ODAD2):c.2942G>A (p.Arg981Gln)
|
rs139741736
|
|
NM_018076.5(ODAD2):c.2942G>T (p.Arg981Leu)
|
rs139741736
|
|
NM_018076.5(ODAD2):c.2945C>T (p.Ala982Val)
|
|
|
NM_018076.5(ODAD2):c.2986A>G (p.Asn996Asp)
|
|
|
NM_018076.5(ODAD2):c.2999T>G (p.Met1000Arg)
|
rs201908864
|
|
NM_018076.5(ODAD2):c.3002A>C (p.His1001Pro)
|
rs1554792749
|
|
NM_018076.5(ODAD2):c.3056A>T (p.Asp1019Val)
|
|
|
NM_018076.5(ODAD2):c.3095G>A (p.Arg1032His)
|
rs375622560
|
|
NM_018076.5(ODAD2):c.325C>T (p.Arg109Cys)
|
|
|
NM_018076.5(ODAD2):c.326G>A (p.Arg109His)
|
rs370420018
|
|
NM_018076.5(ODAD2):c.382G>A (p.Ala128Thr)
|
|
|
NM_018076.5(ODAD2):c.488C>T (p.Pro163Leu)
|
rs1849794667
|
|
NM_018076.5(ODAD2):c.501T>G (p.Ile167Met)
|
rs2133135602
|
|
NM_018076.5(ODAD2):c.530A>T (p.Gln177Leu)
|
rs1849791282
|
|
NM_018076.5(ODAD2):c.544C>T (p.Leu182Phe)
|
|
|
NM_018076.5(ODAD2):c.648C>G (p.Asn216Lys)
|
rs1588661852
|
|
NM_018076.5(ODAD2):c.689A>T (p.Glu230Val)
|
|
|
NM_018076.5(ODAD2):c.761C>T (p.Pro254Leu)
|
|
|
NM_018076.5(ODAD2):c.769G>A (p.Gly257Ser)
|
|
|
NM_018076.5(ODAD2):c.784A>C (p.Ile262Leu)
|
|
|
NM_018076.5(ODAD2):c.819T>C (p.Gly273=)
|
|
|
NM_018076.5(ODAD2):c.843C>A (p.Asp281Glu)
|
rs754506887
|
|
NM_018076.5(ODAD2):c.927G>T (p.Met309Ile)
|
|
|
NM_018076.5(ODAD2):c.976C>G (p.Gln326Glu)
|
rs1032612529
|
|
NM_018076.5(ODAD2):c.991C>G (p.Pro331Ala)
|
|
|
NM_018139.3(DNAAF2):c.1030G>C (p.Val344Leu)
|
rs769244195
|
|
NM_018139.3(DNAAF2):c.1063C>G (p.Arg355Gly)
|
|
|
NM_018139.3(DNAAF2):c.1066G>A (p.Glu356Lys)
|
rs577991424
|
|
NM_018139.3(DNAAF2):c.1076TCGCCG[3] (p.359VA[3])
|
rs962923283
|
|
NM_018139.3(DNAAF2):c.1083CGC[3] (p.Ala365del)
|
rs745419780
|
|
NM_018139.3(DNAAF2):c.1083CGC[6] (p.Ala364_Ala365dup)
|
rs745419780
|
|
NM_018139.3(DNAAF2):c.1166G>A (p.Gly389Glu)
|
rs1261094239
|
|
NM_018139.3(DNAAF2):c.1198C>T (p.His400Tyr)
|
|
|
NM_018139.3(DNAAF2):c.1253C>G (p.Pro418Arg)
|
rs886084919
|
|
NM_018139.3(DNAAF2):c.1253C>T (p.Pro418Leu)
|
|
|
NM_018139.3(DNAAF2):c.1280C>A (p.Ala427Asp)
|
|
|
NM_018139.3(DNAAF2):c.1331C>T (p.Ala444Val)
|
|
|
NM_018139.3(DNAAF2):c.1359G>T (p.Glu453Asp)
|
|
|
NM_018139.3(DNAAF2):c.1400C>T (p.Ser467Phe)
|
|
|
NM_018139.3(DNAAF2):c.1439C>T (p.Ser480Phe)
|
rs1566511752
|
|
NM_018139.3(DNAAF2):c.1445G>C (p.Gly482Ala)
|
rs1427910863
|
|
NM_018139.3(DNAAF2):c.1465G>C (p.Asp489His)
|
|
|
NM_018139.3(DNAAF2):c.1588G>A (p.Asp530Asn)
|
rs146272677
|
|
NM_018139.3(DNAAF2):c.1590C>G (p.Asp530Glu)
|
|
|
NM_018139.3(DNAAF2):c.1597A>G (p.Thr533Ala)
|
rs547924178
|
|
NM_018139.3(DNAAF2):c.1612A>C (p.Ile538Leu)
|
rs531303883
|
|
NM_018139.3(DNAAF2):c.1634C>G (p.Pro545Arg)
|
|
|
NM_018139.3(DNAAF2):c.1634C>T (p.Pro545Leu)
|
|
|
NM_018139.3(DNAAF2):c.163G>A (p.Glu55Lys)
|
rs2139584403
|
|
NM_018139.3(DNAAF2):c.1643T>G (p.Leu548Arg)
|
rs1883221618
|
|
NM_018139.3(DNAAF2):c.1652A>T (p.Asp551Val)
|
|
|
NM_018139.3(DNAAF2):c.166A>G (p.Ile56Val)
|
rs1566513759
|
|
NM_018139.3(DNAAF2):c.1692A>T (p.Gln564His)
|
rs1389375533
|
|
NM_018139.3(DNAAF2):c.169A>G (p.Thr57Ala)
|
|
|
NM_018139.3(DNAAF2):c.178G>A (p.Glu60Lys)
|
rs1180545101
|
|
NM_018139.3(DNAAF2):c.180G>C (p.Glu60Asp)
|
|
|
NM_018139.3(DNAAF2):c.1813C>T (p.His605Tyr)
|
rs964761675
|
|
NM_018139.3(DNAAF2):c.181C>G (p.Arg61Gly)
|
|
|
NM_018139.3(DNAAF2):c.1841G>A (p.Gly614Asp)
|
rs752092329
|
|
NM_018139.3(DNAAF2):c.1856C>T (p.Ser619Phe)
|
|
|
NM_018139.3(DNAAF2):c.1891G>A (p.Val631Ile)
|
rs183126428
|
|
NM_018139.3(DNAAF2):c.1931_1932delinsGT (p.Lys644Ser)
|
rs2139574212
|
|
NM_018139.3(DNAAF2):c.1939A>G (p.Met647Val)
|
rs1883057031
|
|
NM_018139.3(DNAAF2):c.1949C>T (p.Thr650Ile)
|
|
|
NM_018139.3(DNAAF2):c.1954C>G (p.Pro652Ala)
|
rs1883055893
|
|
NM_018139.3(DNAAF2):c.1960A>G (p.Ile654Val)
|
rs1594603805
|
|
NM_018139.3(DNAAF2):c.2007+6G>A
|
|
|
NM_018139.3(DNAAF2):c.2027_2028del (p.Asn675_Ser676insTer)
|
rs752488141
|
|
NM_018139.3(DNAAF2):c.2092A>G (p.Ile698Val)
|
|
|
NM_018139.3(DNAAF2):c.2102G>T (p.Cys701Phe)
|
|
|
NM_018139.3(DNAAF2):c.2108C>A (p.Thr703Asn)
|
|
|
NM_018139.3(DNAAF2):c.2125G>T (p.Asp709Tyr)
|
|
|
NM_018139.3(DNAAF2):c.2269G>T (p.Glu757Ter)
|
|
|
NM_018139.3(DNAAF2):c.2307_2311del (p.Asn769fs)
|
|
|
NM_018139.3(DNAAF2):c.2324T>A (p.Ile775Lys)
|
rs1363447010
|
|
NM_018139.3(DNAAF2):c.2338G>A (p.Glu780Lys)
|
|
|
NM_018139.3(DNAAF2):c.2338G>C (p.Glu780Gln)
|
rs778899267
|
|
NM_018139.3(DNAAF2):c.238A>C (p.Thr80Pro)
|
rs1883300171
|
|
NM_018139.3(DNAAF2):c.2393T>C (p.Ile798Thr)
|
rs1882983539
|
|
NM_018139.3(DNAAF2):c.2416G>T (p.Glu806Ter)
|
rs1882982458
|
|
NM_018139.3(DNAAF2):c.2426T>G (p.Met809Arg)
|
|
|
NM_018139.3(DNAAF2):c.2446G>A (p.Val816Ile)
|
|
|
NM_018139.3(DNAAF2):c.2449A>G (p.Ile817Val)
|
rs777785769
|
|
NM_018139.3(DNAAF2):c.2489del (p.Asn830fs)
|
|
|
NM_018139.3(DNAAF2):c.2503G>T (p.Asp835Tyr)
|
|
|
NM_018139.3(DNAAF2):c.250G>C (p.Gly84Arg)
|
|
|
NM_018139.3(DNAAF2):c.260G>A (p.Arg87His)
|
rs1555328120
|
|
NM_018139.3(DNAAF2):c.278G>T (p.Cys93Phe)
|
rs904534333
|
|
NM_018139.3(DNAAF2):c.295G>A (p.Gly99Ser)
|
|
|
NM_018139.3(DNAAF2):c.305G>A (p.Ser102Asn)
|
|
|
NM_018139.3(DNAAF2):c.306C>A (p.Ser102Arg)
|
rs1555328112
|
|
NM_018139.3(DNAAF2):c.311G>A (p.Arg104Gln)
|
|
|
NM_018139.3(DNAAF2):c.331C>T (p.Arg111Trp)
|
rs761666035
|
|
NM_018139.3(DNAAF2):c.343C>T (p.Pro115Ser)
|
rs931555570
|
|
NM_018139.3(DNAAF2):c.370_393del (p.Ser124_Tyr131del)
|
rs2139583907
|
|
NM_018139.3(DNAAF2):c.386G>A (p.Arg129His)
|
rs1294565597
|
|
NM_018139.3(DNAAF2):c.418A>G (p.Met140Val)
|
rs572101185
|
|
NM_018139.3(DNAAF2):c.421G>A (p.Val141Ile)
|
rs2139583849
|
|
NM_018139.3(DNAAF2):c.428A>T (p.Asp143Val)
|
rs1883290227
|
|
NM_018139.3(DNAAF2):c.436T>G (p.Phe146Val)
|
rs1207595112
|
|
NM_018139.3(DNAAF2):c.455C>A (p.Ala152Glu)
|
rs1594609551
|
|
NM_018139.3(DNAAF2):c.506T>C (p.Leu169Pro)
|
rs1208445913
|
|
NM_018139.3(DNAAF2):c.532G>T (p.Val178Leu)
|
rs767502889
|
|
NM_018139.3(DNAAF2):c.573G>T (p.Lys191Asn)
|
|
|
NM_018139.3(DNAAF2):c.580G>C (p.Gly194Arg)
|
rs557931447
|
|
NM_018139.3(DNAAF2):c.589G>A (p.Glu197Lys)
|
rs1883282453
|
|
NM_018139.3(DNAAF2):c.593C>T (p.Ala198Val)
|
|
|
NM_018139.3(DNAAF2):c.59T>A (p.Val20Asp)
|
rs1566513874
|
|
NM_018139.3(DNAAF2):c.620G>A (p.Gly207Glu)
|
|
|
NM_018139.3(DNAAF2):c.631G>A (p.Ala211Thr)
|
rs868693971
|
|
NM_018139.3(DNAAF2):c.650C>T (p.Pro217Leu)
|
rs1594609205
|
|
NM_018139.3(DNAAF2):c.65G>A (p.Arg22Gln)
|
rs755978191
|
|
NM_018139.3(DNAAF2):c.668A>G (p.Asp223Gly)
|
rs1371877589
|
|
NM_018139.3(DNAAF2):c.673C>T (p.Pro225Ser)
|
rs752558578
|
|
NM_018139.3(DNAAF2):c.682T>C (p.Tyr228His)
|
|
|
NM_018139.3(DNAAF2):c.683A>G (p.Tyr228Cys)
|
|
|
NM_018139.3(DNAAF2):c.719C>A (p.Ser240Tyr)
|
|
|
NM_018139.3(DNAAF2):c.722C>G (p.Pro241Arg)
|
|
|
NM_018139.3(DNAAF2):c.727G>A (p.Glu243Lys)
|
rs727504815
|
|
NM_018139.3(DNAAF2):c.74C>T (p.Ser25Phe)
|
rs868381739
|
|
NM_018139.3(DNAAF2):c.827C>G (p.Pro276Arg)
|
|
|
NM_018139.3(DNAAF2):c.830G>A (p.Ser277Asn)
|
|
|
NM_018139.3(DNAAF2):c.838C>T (p.Pro280Ser)
|
rs2139582764
|
|
NM_018139.3(DNAAF2):c.843T>A (p.His281Gln)
|
rs753291588
|
|
NM_018139.3(DNAAF2):c.895G>C (p.Ala299Pro)
|
|
|
NM_018139.3(DNAAF2):c.913A>G (p.Lys305Glu)
|
|
|
NM_018139.3(DNAAF2):c.986G>A (p.Gly329Asp)
|
rs774079854
|
|
NM_018718.3(CEP41):c.1018C>G (p.Pro340Ala)
|
|
|
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp)
|
rs1554416156
|
|
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr)
|
rs184146463
|
|
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser)
|
rs184146463
|
|
NM_018718.3(CEP41):c.103A>G (p.Ser35Gly)
|
|
|
NM_018718.3(CEP41):c.104G>A (p.Ser35Asn)
|
|
|
NM_018718.3(CEP41):c.1052G>A (p.Gly351Asp)
|
rs2117546322
|
|
NM_018718.3(CEP41):c.1075C>T (p.Pro359Ser)
|
|
|
NM_018718.3(CEP41):c.1079G>C (p.Arg360Pro)
|
rs781878740
|
|
NM_018718.3(CEP41):c.1082C>A (p.Ser361Tyr)
|
|
|
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup)
|
rs1796754986
|
|
NM_018718.3(CEP41):c.108G>T (p.Met36Ile)
|
|
|
NM_018718.3(CEP41):c.1111C>T (p.Pro371Ser)
|
rs782211413
|
|
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu)
|
rs1797355895
|
|
NM_018718.3(CEP41):c.14G>A (p.Arg5Lys)
|
|
|
NM_018718.3(CEP41):c.162A>C (p.Lys54Asn)
|
|
|
NM_018718.3(CEP41):c.176A>G (p.Lys59Arg)
|
rs1797203213
|
|
NM_018718.3(CEP41):c.184A>C (p.Lys62Gln)
|
|
|
NM_018718.3(CEP41):c.208A>G (p.Ile70Val)
|
|
|
NM_018718.3(CEP41):c.226C>G (p.Leu76Val)
|
rs1797171250
|
|
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys)
|
rs1797171055
|
|
NM_018718.3(CEP41):c.242T>C (p.Leu81Pro)
|
|
|
NM_018718.3(CEP41):c.253G>C (p.Ala85Pro)
|
rs946180222
|
|
NM_018718.3(CEP41):c.266A>G (p.Gln89Arg)
|
|
|
NM_018718.3(CEP41):c.277G>C (p.Asp93His)
|
rs1797169504
|
|
NM_018718.3(CEP41):c.281A>G (p.Asn94Ser)
|
|
|
NM_018718.3(CEP41):c.287C>G (p.Ser96Cys)
|
rs2117574982
|
|
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr)
|
rs149373377
|
|
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala)
|
rs149373377
|
|
NM_018718.3(CEP41):c.298G>A (p.Asp100Asn)
|
rs150251054
|
|
NM_018718.3(CEP41):c.298G>C (p.Asp100His)
|
|
|
NM_018718.3(CEP41):c.299A>G (p.Asp100Gly)
|
|
|
NM_018718.3(CEP41):c.320C>T (p.Ala107Val)
|
rs141025803
|
|
NM_018718.3(CEP41):c.33+6G>A
|
rs1798137622
|
|
NM_018718.3(CEP41):c.33G>A (p.Glu11=)
|
rs2117739865
|
|
NM_018718.3(CEP41):c.353A>G (p.Gln118Arg)
|
rs782235279
|
|
NM_018718.3(CEP41):c.359C>G (p.Pro120Arg)
|
|
|
NM_018718.3(CEP41):c.362G>C (p.Ser121Thr)
|
rs782508627
|
|
NM_018718.3(CEP41):c.363C>G (p.Ser121Arg)
|
|
|
NM_018718.3(CEP41):c.367G>C (p.Glu123Gln)
|
rs782614895
|
|
NM_018718.3(CEP41):c.371A>C (p.Gln124Pro)
|
|
|
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser)
|
rs782436531
|
|
NM_018718.3(CEP41):c.422+5T>C
|
|
|
NM_018718.3(CEP41):c.423T>C (p.Ser141=)
|
|
|
NM_018718.3(CEP41):c.428T>A (p.Ile143Asn)
|
rs782614635
|
|
NM_018718.3(CEP41):c.42G>T (p.Met14Ile)
|
rs1797714880
|
|
NM_018718.3(CEP41):c.437T>C (p.Val146Ala)
|
rs1170058733
|
|
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg)
|
rs1554417299
|
|
NM_018718.3(CEP41):c.488C>T (p.Thr163Ile)
|
rs2117565108
|
|
NM_018718.3(CEP41):c.499C>T (p.Pro167Ser)
|
rs1796890244
|
|
NM_018718.3(CEP41):c.52C>T (p.Pro18Ser)
|
|
|
NM_018718.3(CEP41):c.546T>G (p.Asp182Glu)
|
|
|
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu)
|
rs782587361
|
|
NM_018718.3(CEP41):c.568G>T (p.Val190Phe)
|
|
|
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser)
|
rs201818904
|
|
NM_018718.3(CEP41):c.581G>A (p.Ser194Asn)
|
|
|
NM_018718.3(CEP41):c.595A>G (p.Thr199Ala)
|
rs1796855782
|
|
NM_018718.3(CEP41):c.610A>G (p.Met204Val)
|
rs782188831
|
|
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe)
|
rs1796853863
|
|
NM_018718.3(CEP41):c.642+5C>T
|
rs2117560304
|
|
NM_018718.3(CEP41):c.642T>C (p.Tyr214=)
|
rs1796853773
|
|
NM_018718.3(CEP41):c.643-9del
|
|
|
NM_018718.3(CEP41):c.653A>G (p.His218Arg)
|
rs527896814
|
|
NM_018718.3(CEP41):c.659A>G (p.Lys220Arg)
|
rs1472855500
|
|
NM_018718.3(CEP41):c.678C>G (p.Asp226Glu)
|
|
|
NM_018718.3(CEP41):c.67T>A (p.Tyr23Asn)
|
|
|
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly)
|
rs1796819026
|
|
NM_018718.3(CEP41):c.703G>A (p.Ala235Thr)
|
rs2117555473
|
|
NM_018718.3(CEP41):c.717G>T (p.Met239Ile)
|
rs2117555395
|
|
NM_018718.3(CEP41):c.757+5G>A
|
rs909436822
|
|
NM_018718.3(CEP41):c.769T>G (p.Leu257Val)
|
rs2117552967
|
|
NM_018718.3(CEP41):c.773C>T (p.Ala258Val)
|
rs1050700461
|
|
NM_018718.3(CEP41):c.798T>G (p.Ile266Met)
|
rs2117552869
|
|
NM_018718.3(CEP41):c.800C>T (p.Thr267Ile)
|
rs2117552856
|
|
NM_018718.3(CEP41):c.893A>G (p.Asn298Ser)
|
rs2117552201
|
|
NM_018718.3(CEP41):c.928A>G (p.Ile310Val)
|
rs1308536722
|
|
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs)
|
rs782610112
|
|
NM_018718.3(CEP41):c.953A>C (p.Gln318Pro)
|
rs2117551648
|
|
NM_018718.3(CEP41):c.955G>T (p.Gly319Trp)
|
|
|
NM_018718.3(CEP41):c.965A>G (p.Asp322Gly)
|
|
|
NM_018718.3(CEP41):c.973+404_1077del
|
rs1796755672
|
|
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln)
|
rs782387467
|
|
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu)
|
rs782387467
|
|
NM_018718.3(CEP41):c.97G>A (p.Gly33Ser)
|
|
|
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro)
|
rs1796760925
|
|
NM_019892.6(INPP5E):c.1003G>C (p.Val335Leu)
|
|
|
NM_019892.6(INPP5E):c.1037G>A (p.Arg346Gln)
|
|
|
NM_019892.6(INPP5E):c.103C>T (p.Arg35Cys)
|
|
|
NM_019892.6(INPP5E):c.1045G>A (p.Glu349Lys)
|
rs2131609390
|
|
NM_019892.6(INPP5E):c.1064_1065insTCGTCTGCAGGACAC (p.Thr355_Leu356insArgLeuGlnAspThr)
|
rs1835756153
|
|
NM_019892.6(INPP5E):c.107C>T (p.Ala36Val)
|
|
|
NM_019892.6(INPP5E):c.1094C>T (p.Ser365Leu)
|
rs1388522044
|
|
NM_019892.6(INPP5E):c.1111C>T (p.Leu371Phe)
|
rs2131609205
|
|
NM_019892.6(INPP5E):c.1117A>G (p.Met373Val)
|
|
|
NM_019892.6(INPP5E):c.1118T>C (p.Met373Thr)
|
rs971174374
|
|
NM_019892.6(INPP5E):c.1123C>T (p.Leu375Phe)
|
rs2131609184
|
|
NM_019892.6(INPP5E):c.1138G>A (p.Asp380Asn)
|
rs770456201
|
|
NM_019892.6(INPP5E):c.1159+16_1159+33del
|
rs1239490197
|
|
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGCGGCTGAAGG
|
rs71269007
|
|
NM_019892.6(INPP5E):c.1160-12C>T
|
|
|
NM_019892.6(INPP5E):c.1160A>G (p.Glu387Gly)
|
|
|
NM_019892.6(INPP5E):c.1172C>G (p.Ser391Cys)
|
|
|
NM_019892.6(INPP5E):c.1175C>G (p.Thr392Arg)
|
|
|
NM_019892.6(INPP5E):c.1175C>T (p.Thr392Met)
|
rs771142015
|
|
NM_019892.6(INPP5E):c.1188C>G (p.Arg396=)
|
|
|
NM_019892.6(INPP5E):c.1191C>A (p.Ile397=)
|
rs558778286
|
|
NM_019892.6(INPP5E):c.11A>T (p.Lys4Met)
|
rs1057306367
|
|
NM_019892.6(INPP5E):c.1267T>C (p.Ser423Pro)
|
rs2131608631
|
|
NM_019892.6(INPP5E):c.1275C>G (p.Phe425Leu)
|
rs780525765
|
|
NM_019892.6(INPP5E):c.1283G>T (p.Gly428Val)
|
rs1427552852
|
|
NM_019892.6(INPP5E):c.1292A>G (p.Lys431Arg)
|
|
|
NM_019892.6(INPP5E):c.1294G>A (p.Val432Met)
|
|
|
NM_019892.6(INPP5E):c.1313A>G (p.Asp438Gly)
|
rs1167225330
|
|
NM_019892.6(INPP5E):c.1319C>T (p.Thr440Ile)
|
rs1835732946
|
|
NM_019892.6(INPP5E):c.131G>T (p.Gly44Val)
|
|
|
NM_019892.6(INPP5E):c.1333G>A (p.Ala445Thr)
|
|
|
NM_019892.6(INPP5E):c.1354G>A (p.Val452Met)
|
rs1554793007
|
|
NM_019892.6(INPP5E):c.1364C>A (p.Thr455Asn)
|
rs763184550
|
|
NM_019892.6(INPP5E):c.1387+5G>C
|
rs2131607798
|
|
NM_019892.6(INPP5E):c.139A>G (p.Ser47Gly)
|
|
|
NM_019892.6(INPP5E):c.1433T>G (p.Phe478Cys)
|
|
|
NM_019892.6(INPP5E):c.1441C>A (p.Arg481Ser)
|
rs761179746
|
|
NM_019892.6(INPP5E):c.1465G>T (p.Val489Leu)
|
|
|
NM_019892.6(INPP5E):c.1469A>T (p.Asp490Val)
|
rs1835715112
|
|
NM_019892.6(INPP5E):c.146C>T (p.Ala49Val)
|
|
|
NM_019892.6(INPP5E):c.1478T>C (p.Leu493Pro)
|
|
|
NM_019892.6(INPP5E):c.14C>A (p.Ala5Glu)
|
|
|
NM_019892.6(INPP5E):c.1501G>A (p.Val501Met)
|
|
|
NM_019892.6(INPP5E):c.1501G>C (p.Val501Leu)
|
rs370876407
|
|
NM_019892.6(INPP5E):c.1501G>T (p.Val501Leu)
|
|
|
NM_019892.6(INPP5E):c.1505C>T (p.Pro502Leu)
|
rs769531967
|
|
NM_019892.6(INPP5E):c.1508C>T (p.Ala503Val)
|
rs370661476
|
|
NM_019892.6(INPP5E):c.1521C>G (p.His507Gln)
|
|
|
NM_019892.6(INPP5E):c.1522G>A (p.Asp508Asn)
|
rs1246194868
|
|
NM_019892.6(INPP5E):c.1531_1532delinsCA (p.Ile511His)
|
rs1835712336
|
|
NM_019892.6(INPP5E):c.1535G>T (p.Arg512Leu)
|
rs750777734
|
|
NM_019892.6(INPP5E):c.1547A>G (p.Lys516Arg)
|
rs13294000
|
|
NM_019892.6(INPP5E):c.1549+4A>G
|
|
|
NM_019892.6(INPP5E):c.1550-5G>A
|
|
|
NM_019892.6(INPP5E):c.1561A>G (p.Lys521Glu)
|
|
|
NM_019892.6(INPP5E):c.1581C>A (p.Asp527Glu)
|
|
|
NM_019892.6(INPP5E):c.1590C>G (p.Phe530Leu)
|
rs531628363
|
|
NM_019892.6(INPP5E):c.161C>G (p.Thr54Ser)
|
rs1234082483
|
|
NM_019892.6(INPP5E):c.1633A>G (p.Ser545Gly)
|
rs1835687019
|
|
NM_019892.6(INPP5E):c.163C>A (p.Pro55Thr)
|
rs1302116437
|
|
NM_019892.6(INPP5E):c.1649G>C (p.Arg550Thr)
|
|
|
NM_019892.6(INPP5E):c.1649_1651dup (p.Arg550dup)
|
rs778019120
|
|
NM_019892.6(INPP5E):c.1664C>T (p.Thr555Met)
|
rs761578787
|
|
NM_019892.6(INPP5E):c.1665+3G>A
|
rs2131605615
|
|
NM_019892.6(INPP5E):c.166G>C (p.Ala56Pro)
|
rs987360153
|
|
NM_019892.6(INPP5E):c.1672G>A (p.Val558Ile)
|
rs1417022247
|
|
NM_019892.6(INPP5E):c.1694A>G (p.Lys565Arg)
|
|
|
NM_019892.6(INPP5E):c.170C>A (p.Thr57Lys)
|
|
|
NM_019892.6(INPP5E):c.1729C>T (p.Pro577Ser)
|
rs1352231723
|
|
NM_019892.6(INPP5E):c.1737C>G (p.Ile579Met)
|
rs2131604828
|
|
NM_019892.6(INPP5E):c.1775G>A (p.Arg592Gln)
|
|
|
NM_019892.6(INPP5E):c.181G>A (p.Glu61Lys)
|
rs1835929956
|
|
NM_019892.6(INPP5E):c.1820G>A (p.Gly607Asp)
|
|
|
NM_019892.6(INPP5E):c.1830T>A (p.Asp610Glu)
|
rs199875003
|
|
NM_019892.6(INPP5E):c.1846C>A (p.Leu616Ile)
|
rs1564430711
|
|
NM_019892.6(INPP5E):c.1849G>A (p.Gly617Arg)
|
rs1477067987
|
|
NM_019892.6(INPP5E):c.220C>G (p.Pro74Ala)
|
rs755881439
|
|
NM_019892.6(INPP5E):c.223C>T (p.Pro75Ser)
|
rs2131619729
|
|
NM_019892.6(INPP5E):c.236G>C (p.Arg79Pro)
|
|
|
NM_019892.6(INPP5E):c.262G>T (p.Asp88Tyr)
|
rs894770887
|
|
NM_019892.6(INPP5E):c.268G>A (p.Gly90Ser)
|
|
|
NM_019892.6(INPP5E):c.26G>T (p.Arg9Leu)
|
|
|
NM_019892.6(INPP5E):c.271T>G (p.Trp91Gly)
|
|
|
NM_019892.6(INPP5E):c.274AGG[4] (p.Arg95dup)
|
rs748503945
|
|
NM_019892.6(INPP5E):c.278G>C (p.Arg93Thr)
|
rs2131619490
|
|
NM_019892.6(INPP5E):c.281G>C (p.Arg94Thr)
|
|
|
NM_019892.6(INPP5E):c.284G>A (p.Arg95His)
|
rs192637923
|
|
NM_019892.6(INPP5E):c.304G>A (p.Asp102Asn)
|
|
|
NM_019892.6(INPP5E):c.310G>C (p.Glu104Gln)
|
rs1405900741
|
|
NM_019892.6(INPP5E):c.316C>T (p.Arg106Trp)
|
rs755788855
|
|
NM_019892.6(INPP5E):c.319A>C (p.Asn107His)
|
rs2131619339
|
|
NM_019892.6(INPP5E):c.326C>A (p.Thr109Asn)
|
|
|
NM_019892.6(INPP5E):c.335C>G (p.Ser112Cys)
|
rs1295932398
|
|
NM_019892.6(INPP5E):c.338G>A (p.Arg113Lys)
|
rs2131619250
|
|
NM_019892.6(INPP5E):c.34G>C (p.Glu12Gln)
|
rs1835935570
|
|
NM_019892.6(INPP5E):c.361C>T (p.Pro121Ser)
|
|
|
NM_019892.6(INPP5E):c.364G>A (p.Gly122Arg)
|
|
|
NM_019892.6(INPP5E):c.368C>T (p.Ala123Val)
|
|
|
NM_019892.6(INPP5E):c.36G>C (p.Glu12Asp)
|
|
|
NM_019892.6(INPP5E):c.377A>G (p.His126Arg)
|
|
|
NM_019892.6(INPP5E):c.386C>G (p.Ser129Cys)
|
rs745450500
|
|
NM_019892.6(INPP5E):c.38C>T (p.Pro13Leu)
|
|
|
NM_019892.6(INPP5E):c.394T>G (p.Cys132Gly)
|
|
|
NM_019892.6(INPP5E):c.431G>A (p.Arg144His)
|
|
|
NM_019892.6(INPP5E):c.44C>T (p.Pro15Leu)
|
rs2131620295
|
|
NM_019892.6(INPP5E):c.454G>A (p.Gly152Arg)
|
|
|
NM_019892.6(INPP5E):c.469G>C (p.Gly157Arg)
|
|
|
NM_019892.6(INPP5E):c.477C>G (p.Asn159Lys)
|
|
|
NM_019892.6(INPP5E):c.478C>G (p.Pro160Ala)
|
rs2131618678
|
|
NM_019892.6(INPP5E):c.4C>T (p.Pro2Ser)
|
rs1399373117
|
|
NM_019892.6(INPP5E):c.500G>A (p.Ser167Asn)
|
|
|
NM_019892.6(INPP5E):c.511C>T (p.Leu171Phe)
|
rs1835911218
|
|
NM_019892.6(INPP5E):c.519C>G (p.His173Gln)
|
rs1835910820
|
|
NM_019892.6(INPP5E):c.521G>T (p.Arg174Ile)
|
rs1835910612
|
|
NM_019892.6(INPP5E):c.530C>T (p.Ala177Val)
|
|
|
NM_019892.6(INPP5E):c.561C>G (p.Ser187Arg)
|
|
|
NM_019892.6(INPP5E):c.572C>T (p.Pro191Leu)
|
|
|
NM_019892.6(INPP5E):c.577C>T (p.Pro193Ser)
|
|
|
NM_019892.6(INPP5E):c.580C>T (p.Pro194Ser)
|
|
|
NM_019892.6(INPP5E):c.584C>T (p.Pro195Leu)
|
|
|
NM_019892.6(INPP5E):c.587C>T (p.Ala196Val)
|
|
|
NM_019892.6(INPP5E):c.604G>C (p.Ala202Pro)
|
|
|
NM_019892.6(INPP5E):c.608C>G (p.Ser203Cys)
|
rs1214397440
|
|
NM_019892.6(INPP5E):c.610G>T (p.Asp204Tyr)
|
|
|
NM_019892.6(INPP5E):c.613T>C (p.Ser205Pro)
|
rs1216505048
|
|
NM_019892.6(INPP5E):c.61A>T (p.Arg21Trp)
|
rs886042814
|
|
NM_019892.6(INPP5E):c.623C>A (p.Thr208Lys)
|
rs143107549
|
|
NM_019892.6(INPP5E):c.635T>G (p.Val212Gly)
|
|
|
NM_019892.6(INPP5E):c.638A>C (p.Asp213Ala)
|
|
|
NM_019892.6(INPP5E):c.646C>A (p.Leu216Ile)
|
rs994157744
|
|
NM_019892.6(INPP5E):c.650C>G (p.Ala217Gly)
|
|
|
NM_019892.6(INPP5E):c.653A>C (p.Asp218Ala)
|
rs753519048
|
|
NM_019892.6(INPP5E):c.683T>G (p.Val228Gly)
|
|
|
NM_019892.6(INPP5E):c.692A>T (p.His231Leu)
|
rs779854628
|
|
NM_019892.6(INPP5E):c.698G>C (p.Ser233Thr)
|
|
|
NM_019892.6(INPP5E):c.712C>T (p.Arg238Trp)
|
|
|
NM_019892.6(INPP5E):c.713G>A (p.Arg238Gln)
|
rs760298042
|
|
NM_019892.6(INPP5E):c.724C>T (p.Pro242Ser)
|
rs1835897617
|
|
NM_019892.6(INPP5E):c.733T>C (p.Cys245Arg)
|
|
|
NM_019892.6(INPP5E):c.746C>G (p.Ser249Cys)
|
rs550485638
|
|
NM_019892.6(INPP5E):c.752G>A (p.Arg251His)
|
|
|
NM_019892.6(INPP5E):c.757G>C (p.Ala253Pro)
|
|
|
NM_019892.6(INPP5E):c.764C>T (p.Ser255Phe)
|
rs368817877
|
|
NM_019892.6(INPP5E):c.770T>C (p.Phe257Ser)
|
|
|
NM_019892.6(INPP5E):c.775C>A (p.Leu259Ile)
|
|
|
NM_019892.6(INPP5E):c.808A>G (p.Ser270Gly)
|
rs1564436564
|
|
NM_019892.6(INPP5E):c.812+7_812+11delinsT
|
rs1835891960
|
|
NM_019892.6(INPP5E):c.812+8_812+11del
|
rs1216101553
|
|
NM_019892.6(INPP5E):c.815G>T (p.Ser272Ile)
|
|
|
NM_019892.6(INPP5E):c.818A>C (p.Tyr273Ser)
|
|
|
NM_019892.6(INPP5E):c.82C>G (p.Pro28Ala)
|
|
|
NM_019892.6(INPP5E):c.832C>T (p.Leu278Phe)
|
rs1835795799
|
|
NM_019892.6(INPP5E):c.847G>T (p.Ala283Ser)
|
rs1310994013
|
|
NM_019892.6(INPP5E):c.890G>A (p.Arg297Gln)
|
|
|
NM_019892.6(INPP5E):c.89C>T (p.Ala30Val)
|
|
|
NM_019892.6(INPP5E):c.906C>A (p.Phe302Leu)
|
rs140222295
|
|
NM_019892.6(INPP5E):c.907G>T (p.Val303Leu)
|
rs746212325
|
|
NM_019892.6(INPP5E):c.909G>A (p.Val303=)
|
|
|
NM_019892.6(INPP5E):c.916T>G (p.Trp306Gly)
|
|
|
NM_019892.6(INPP5E):c.91C>G (p.Pro31Ala)
|
|
|
NM_019892.6(INPP5E):c.92C>A (p.Pro31Gln)
|
rs1835933216
|
|
NM_019892.6(INPP5E):c.931C>G (p.Gln311Glu)
|
rs2131611242
|
|
NM_019892.6(INPP5E):c.934_936del (p.Lys312del)
|
|
|
NM_019892.6(INPP5E):c.936+4_936+5dup
|
rs2131611229
|
|
NM_019892.6(INPP5E):c.937-3C>T
|
rs1404421521
|
|
NM_019892.6(INPP5E):c.939G>T (p.Glu313Asp)
|
|
|
NM_019892.6(INPP5E):c.940C>T (p.Leu314Phe)
|
|
|
NM_019892.6(INPP5E):c.949A>G (p.Ser317Gly)
|
rs1186646391
|
|
NM_019892.6(INPP5E):c.950G>A (p.Ser317Asn)
|
|
|
NM_019892.6(INPP5E):c.952C>A (p.Leu318Met)
|
rs1835775767
|
|
NM_019892.6(INPP5E):c.957C>A (p.Asp319Glu)
|
|
|
NM_019892.6(INPP5E):c.95C>G (p.Pro32Arg)
|
rs1018506310
|
|
NM_019892.6(INPP5E):c.95C>T (p.Pro32Leu)
|
rs1018506310
|
|
NM_019892.6(INPP5E):c.971_972inv (p.Pro324Leu)
|
|
|
NM_019892.6(INPP5E):c.986A>T (p.Tyr329Phe)
|
rs372066816
|
|
NM_020779.4(WDR35):c.100G>A (p.Glu34Lys)
|
rs1572375239
|
|
NM_020779.4(WDR35):c.1040C>A (p.Ala347Glu)
|
rs1228739567
|
|
NM_020779.4(WDR35):c.1058G>A (p.Arg353His)
|
|
|
NM_020779.4(WDR35):c.1082G>T (p.Trp361Leu)
|
rs2103444974
|
|
NM_020779.4(WDR35):c.1228C>T (p.Pro410Ser)
|
|
|
NM_020779.4(WDR35):c.1270G>A (p.Ala424Thr)
|
|
|
NM_020779.4(WDR35):c.1301C>T (p.Ser434Leu)
|
rs368497711
|
|
NM_020779.4(WDR35):c.1366C>G (p.Gln456Glu)
|
|
|
NM_020779.4(WDR35):c.1392G>T (p.Gly464=)
|
rs1476590827
|
|
NM_020779.4(WDR35):c.1400+6del
|
|
|
NM_020779.4(WDR35):c.141A>G (p.Thr47=)
|
|
|
NM_020779.4(WDR35):c.1528C>T (p.Arg510Cys)
|
rs1462353387
|
|
NM_020779.4(WDR35):c.1540A>G (p.Thr514Ala)
|
rs2103417008
|
|
NM_020779.4(WDR35):c.1570G>A (p.Gly524Ser)
|
rs2103416923
|
|
NM_020779.4(WDR35):c.1654A>C (p.Ile552Leu)
|
|
|
NM_020779.4(WDR35):c.1846-7T>A
|
rs1479233566
|
|
NM_020779.4(WDR35):c.1866A>G (p.Gly622=)
|
rs2103410659
|
|
NM_020779.4(WDR35):c.1901C>A (p.Ser634Tyr)
|
|
|
NM_020779.4(WDR35):c.1937A>G (p.His646Arg)
|
|
|
NM_020779.4(WDR35):c.1954C>G (p.Leu652Val)
|
|
|
NM_020779.4(WDR35):c.1994C>T (p.Ala665Val)
|
|
|
NM_020779.4(WDR35):c.2029C>G (p.Gln677Glu)
|
rs775076264
|
|
NM_020779.4(WDR35):c.2116C>A (p.Gln706Lys)
|
rs2103405475
|
|
NM_020779.4(WDR35):c.2129G>A (p.Arg710His)
|
rs370797645
|
|
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu)
|
rs370797645
|
|
NM_020779.4(WDR35):c.2135A>G (p.Lys712Arg)
|
|
|
NM_020779.4(WDR35):c.2149A>C (p.Ile717Leu)
|
rs144493712
|
|
NM_020779.4(WDR35):c.2191A>G (p.Met731Val)
|
|
|
NM_020779.4(WDR35):c.2193G>C (p.Met731Ile)
|
|
|
NM_020779.4(WDR35):c.2213G>T (p.Gly738Val)
|
|
|
NM_020779.4(WDR35):c.2264G>C (p.Arg755Thr)
|
|
|
NM_020779.4(WDR35):c.2272C>G (p.Leu758Val)
|
rs1670697417
|
|
NM_020779.4(WDR35):c.2288G>A (p.Arg763Gln)
|
rs1670696748
|
|
NM_020779.4(WDR35):c.2356A>C (p.Ser786Arg)
|
rs748153278
|
|
NM_020779.4(WDR35):c.2358T>A (p.Ser786Arg)
|
|
|
NM_020779.4(WDR35):c.2408A>G (p.Gln803Arg)
|
rs2103403345
|
|
NM_020779.4(WDR35):c.2488G>A (p.Asp830Asn)
|
|
|
NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)
|
|
|
NM_020779.4(WDR35):c.2559A>T (p.Gln853His)
|
|
|
NM_020779.4(WDR35):c.2575G>C (p.Gly859Arg)
|
rs2103399882
|
|
NM_020779.4(WDR35):c.259A>T (p.Thr87Ser)
|
rs2103463081
|
|
NM_020779.4(WDR35):c.2681C>T (p.Ala894Val)
|
rs1670554390
|
|
NM_020779.4(WDR35):c.2746A>G (p.Lys916Glu)
|
rs2103398404
|
|
NM_020779.4(WDR35):c.2798T>C (p.Phe933Ser)
|
rs2103398314
|
|
NM_020779.4(WDR35):c.2800G>A (p.Asp934Asn)
|
rs376786810
|
|
NM_020779.4(WDR35):c.2823+6_2823+298delinsAAA
|
|
|
NM_020779.4(WDR35):c.2823G>A (p.Lys941=)
|
rs2103398260
|
|
NM_020779.4(WDR35):c.2856A>G (p.Lys952=)
|
rs755843830
|
|
NM_020779.4(WDR35):c.2960C>T (p.Ser987Leu)
|
rs750968053
|
|
NM_020779.4(WDR35):c.2964+17_2964+18delinsGG
|
|
|
NM_020779.4(WDR35):c.2968A>G (p.Thr990Ala)
|
rs1184414721
|
|
NM_020779.4(WDR35):c.297G>A (p.Met99Ile)
|
rs779065567
|
|
NM_020779.4(WDR35):c.2980G>T (p.Ala994Ser)
|
|
|
NM_020779.4(WDR35):c.2993AAG[2] (p.Glu1000del)
|
rs746953019
|
|
NM_020779.4(WDR35):c.3026C>T (p.Thr1009Ile)
|
rs201153804
|
|
NM_020779.4(WDR35):c.3034G>C (p.Ala1012Pro)
|
|
|
NM_020779.4(WDR35):c.3117G>T (p.Lys1039Asn)
|
|
|
NM_020779.4(WDR35):c.3162G>A (p.Val1054=)
|
rs2103378366
|
|
NM_020779.4(WDR35):c.3281A>T (p.Tyr1094Phe)
|
|
|
NM_020779.4(WDR35):c.3322A>G (p.Lys1108Glu)
|
|
|
NM_020779.4(WDR35):c.3340G>A (p.Glu1114Lys)
|
rs2103378015
|
|
NM_020779.4(WDR35):c.3362+6C>T
|
|
|
NM_020779.4(WDR35):c.3385T>C (p.Cys1129Arg)
|
rs1558317812
|
|
NM_020779.4(WDR35):c.3398G>A (p.Gly1133Glu)
|
rs1558317742
|
|
NM_020779.4(WDR35):c.3427A>T (p.Met1143Leu)
|
|
|
NM_020779.4(WDR35):c.3439T>C (p.Cys1147Arg)
|
|
|
NM_020779.4(WDR35):c.3448G>A (p.Gly1150Ser)
|
|
|
NM_020779.4(WDR35):c.3454C>T (p.Leu1152Phe)
|
|
|
NM_020779.4(WDR35):c.3455T>G (p.Leu1152Arg)
|
|
|
NM_020779.4(WDR35):c.367T>C (p.Trp123Arg)
|
|
|
NM_020779.4(WDR35):c.376G>A (p.Asp126Asn)
|
|
|
NM_020779.4(WDR35):c.436+4A>G
|
rs1672290200
|
|
NM_020779.4(WDR35):c.442C>T (p.Arg148Cys)
|
|
|
NM_020779.4(WDR35):c.496G>A (p.Ala166Thr)
|
|
|
NM_020779.4(WDR35):c.497C>T (p.Ala166Val)
|
rs374556044
|
|
NM_020779.4(WDR35):c.613A>G (p.Ile205Val)
|
|
|
NM_020779.4(WDR35):c.629T>C (p.Ile210Thr)
|
|
|
NM_020779.4(WDR35):c.658G>T (p.Val220Leu)
|
|
|
NM_020779.4(WDR35):c.664C>G (p.Pro222Ala)
|
rs1553322982
|
|
NM_020779.4(WDR35):c.717G>A (p.Met239Ile)
|
|
|
NM_020779.4(WDR35):c.837G>C (p.Gln279His)
|
rs764069624
|
|
NM_020779.4(WDR35):c.872C>T (p.Pro291Leu)
|
|
|
NM_020779.4(WDR35):c.920C>T (p.Ser307Phe)
|
|
|
NM_020800.3(IFT80):c.1001G>A (p.Arg334His)
|
|
|
NM_020800.3(IFT80):c.1009G>A (p.Val337Ile)
|
rs1226978230
|
|
NM_020800.3(IFT80):c.1028A>T (p.Asn343Ile)
|
|
|
NM_020800.3(IFT80):c.1030T>C (p.Tyr344His)
|
rs2108277043
|
|
NM_020800.3(IFT80):c.1060C>A (p.Gln354Lys)
|
|
|
NM_020800.3(IFT80):c.1076+6C>A
|
rs1478232526
|
|
NM_020800.3(IFT80):c.1094C>T (p.Thr365Ile)
|
rs2108271630
|
|
NM_020800.3(IFT80):c.1102A>G (p.Ile368Val)
|
|
|
NM_020800.3(IFT80):c.1104A>G (p.Ile368Met)
|
rs369114064
|
|
NM_020800.3(IFT80):c.1115A>G (p.Lys372Arg)
|
rs2108271596
|
|
NM_020800.3(IFT80):c.1126G>A (p.Val376Ile)
|
rs753617262
|
|
NM_020800.3(IFT80):c.1129A>G (p.Ser377Gly)
|
|
|
NM_020800.3(IFT80):c.1150A>G (p.Arg384Gly)
|
|
|
NM_020800.3(IFT80):c.118T>A (p.Trp40Arg)
|
|
|
NM_020800.3(IFT80):c.1198G>A (p.Glu400Lys)
|
|
|
NM_020800.3(IFT80):c.1208T>G (p.Phe403Cys)
|
rs142536602
|
|
NM_020800.3(IFT80):c.1222A>G (p.Lys408Glu)
|
rs776006563
|
|
NM_020800.3(IFT80):c.1229C>A (p.Pro410His)
|
rs148396265
|
|
NM_020800.3(IFT80):c.1229C>G (p.Pro410Arg)
|
|
|
NM_020800.3(IFT80):c.1283C>A (p.Thr428Asn)
|
rs770394750
|
|
NM_020800.3(IFT80):c.1285A>G (p.Ile429Val)
|
|
|
NM_020800.3(IFT80):c.1286T>C (p.Ile429Thr)
|
rs2108267139
|
|
NM_020800.3(IFT80):c.1287A>G (p.Ile429Met)
|
|
|
NM_020800.3(IFT80):c.1288G>A (p.Ala430Thr)
|
rs1716375276
|
|
NM_020800.3(IFT80):c.1291A>G (p.Ile431Val)
|
|
|
NM_020800.3(IFT80):c.1295G>C (p.Arg432Thr)
|
rs1716374436
|
|
NM_020800.3(IFT80):c.1297G>A (p.Asp433Asn)
|
rs527756323
|
|
NM_020800.3(IFT80):c.1319T>C (p.Ile440Thr)
|
|
|
NM_020800.3(IFT80):c.131C>A (p.Thr44Asn)
|
rs1712527833
|
|
NM_020800.3(IFT80):c.1324C>T (p.Leu442Phe)
|
rs2108240755
|
|
NM_020800.3(IFT80):c.1339A>G (p.Thr447Ala)
|
rs1715048069
|
|
NM_020800.3(IFT80):c.1343G>T (p.Gly448Val)
|
rs1715047540
|
|
NM_020800.3(IFT80):c.1354G>A (p.Gly452Ser)
|
rs1424771271
|
|
NM_020800.3(IFT80):c.135T>G (p.Ser45Arg)
|
rs762238566
|
|
NM_020800.3(IFT80):c.1389_1397del (p.Leu464_Ile466del)
|
rs752515612
|
|
NM_020800.3(IFT80):c.1405G>T (p.Asp469Tyr)
|
rs1210834952
|
|
NM_020800.3(IFT80):c.1420A>G (p.Thr474Ala)
|
rs750126857
|
|
NM_020800.3(IFT80):c.142A>G (p.Thr48Ala)
|
rs2108404384
|
|
NM_020800.3(IFT80):c.1436T>A (p.Ile479Asn)
|
rs1714767611
|
|
NM_020800.3(IFT80):c.1452A>T (p.Lys484Asn)
|
rs1714765993
|
|
NM_020800.3(IFT80):c.1468A>G (p.Ile490Val)
|
rs1559917807
|
|
NM_020800.3(IFT80):c.1484G>A (p.Arg495Gln)
|
|
|
NM_020800.3(IFT80):c.1486T>C (p.Phe496Leu)
|
|
|
NM_020800.3(IFT80):c.1495G>A (p.Glu499Lys)
|
rs555093543
|
|
NM_020800.3(IFT80):c.1507A>G (p.Ile503Val)
|
|
|
NM_020800.3(IFT80):c.1512G>T (p.Lys504Asn)
|
rs772287249
|
|
NM_020800.3(IFT80):c.1520C>T (p.Thr507Ile)
|
rs2108231550
|
|
NM_020800.3(IFT80):c.1525G>A (p.Val509Met)
|
rs758912357
|
|
NM_020800.3(IFT80):c.1525G>T (p.Val509Leu)
|
rs758912357
|
|
NM_020800.3(IFT80):c.1549A>G (p.Thr517Ala)
|
|
|
NM_020800.3(IFT80):c.1550C>T (p.Thr517Ile)
|
rs1408265295
|
|
NM_020800.3(IFT80):c.1556A>G (p.Asn519Ser)
|
rs1714628390
|
|
NM_020800.3(IFT80):c.156G>C (p.Lys52Asn)
|
|
|
NM_020800.3(IFT80):c.1583G>A (p.Arg528Gln)
|
|
|
NM_020800.3(IFT80):c.1624A>G (p.Arg542Gly)
|
|
|
NM_020800.3(IFT80):c.1625G>A (p.Arg542Lys)
|
rs1027265275
|
|
NM_020800.3(IFT80):c.1655G>C (p.Arg552Thr)
|
|
|
NM_020800.3(IFT80):c.1694G>A (p.Ser565Asn)
|
rs1714507782
|
|
NM_020800.3(IFT80):c.1717A>G (p.Ile573Val)
|
rs371520687
|
|
NM_020800.3(IFT80):c.1726G>A (p.Ala576Thr)
|
rs1714506395
|
|
NM_020800.3(IFT80):c.1753A>T (p.Ile585Leu)
|
rs864622337
|
|
NM_020800.3(IFT80):c.1775T>C (p.Leu592Pro)
|
rs2108229016
|
|
NM_020800.3(IFT80):c.1777C>T (p.His593Tyr)
|
|
|
NM_020800.3(IFT80):c.1836G>A (p.Lys612=)
|
rs758317567
|
|
NM_020800.3(IFT80):c.1837-3T>C
|
rs1714373421
|
|
NM_020800.3(IFT80):c.1837G>A (p.Glu613Lys)
|
|
|
NM_020800.3(IFT80):c.1847T>C (p.Met616Thr)
|
|
|
NM_020800.3(IFT80):c.1868T>C (p.Met623Thr)
|
rs1441644666
|
|
NM_020800.3(IFT80):c.1891A>G (p.Thr631Ala)
|
|
|
NM_020800.3(IFT80):c.1907C>T (p.Ala636Val)
|
|
|
NM_020800.3(IFT80):c.1913C>G (p.Ala638Gly)
|
rs751685555
|
|
NM_020800.3(IFT80):c.1918A>G (p.Ile640Val)
|
|
|
NM_020800.3(IFT80):c.1922G>C (p.Gly641Ala)
|
rs758343586
|
|
NM_020800.3(IFT80):c.1926+9T>G
|
|
|
NM_020800.3(IFT80):c.1936G>A (p.Val646Ile)
|
|
|
NM_020800.3(IFT80):c.1936G>C (p.Val646Leu)
|
rs752617502
|
|
NM_020800.3(IFT80):c.1936G>T (p.Val646Phe)
|
rs752617502
|
|
NM_020800.3(IFT80):c.1949A>G (p.Asn650Ser)
|
|
|
NM_020800.3(IFT80):c.1954A>T (p.Ile652Leu)
|
|
|
NM_020800.3(IFT80):c.1993A>G (p.Ile665Val)
|
|
|
NM_020800.3(IFT80):c.2020G>A (p.Glu674Lys)
|
|
|
NM_020800.3(IFT80):c.2028A>C (p.Glu676Asp)
|
rs1714347314
|
|
NM_020800.3(IFT80):c.2033T>G (p.Val678Gly)
|
rs762893736
|
|
NM_020800.3(IFT80):c.206T>G (p.Leu69Trp)
|
rs2108404301
|
|
NM_020800.3(IFT80):c.207G>A (p.Leu69=)
|
rs2108404298
|
|
NM_020800.3(IFT80):c.2083C>G (p.Leu695Val)
|
|
|
NM_020800.3(IFT80):c.2086T>C (p.Tyr696His)
|
|
|
NM_020800.3(IFT80):c.2094G>C (p.Trp698Cys)
|
rs1273119646
|
|
NM_020800.3(IFT80):c.2099G>A (p.Arg700Lys)
|
|
|
NM_020800.3(IFT80):c.2132A>G (p.His711Arg)
|
|
|
NM_020800.3(IFT80):c.2138A>G (p.Asp713Gly)
|
rs1713528985
|
|
NM_020800.3(IFT80):c.2174C>T (p.Thr725Ile)
|
rs997566753
|
|
NM_020800.3(IFT80):c.2215G>A (p.Ala739Thr)
|
rs2108209837
|
|
NM_020800.3(IFT80):c.2223+4_2223+7del
|
rs751433239
|
|
NM_020800.3(IFT80):c.2282G>C (p.Arg761Thr)
|
rs112640410
|
|
NM_020800.3(IFT80):c.2302C>T (p.Gln768Ter)
|
rs778690591
|
|
NM_020800.3(IFT80):c.230C>A (p.Ala77Glu)
|
rs866504439
|
|
NM_020800.3(IFT80):c.2318T>C (p.Ile773Thr)
|
|
|
NM_020800.3(IFT80):c.2329C>T (p.Pro777Ser)
|
|
|
NM_020800.3(IFT80):c.239_250delinsGGGTTT (p.Phe80_Ser84delinsTrpValCys)
|
rs1712517309
|
|
NM_020800.3(IFT80):c.266T>C (p.Phe89Ser)
|
rs965701938
|
|
NM_020800.3(IFT80):c.301A>G (p.Ser101Gly)
|
|
|
NM_020800.3(IFT80):c.304G>A (p.Val102Ile)
|
|
|
NM_020800.3(IFT80):c.317G>C (p.Cys106Ser)
|
|
|
NM_020800.3(IFT80):c.331G>A (p.Ala111Thr)
|
rs1712114570
|
|
NM_020800.3(IFT80):c.335G>A (p.Gly112Glu)
|
rs1712113940
|
|
NM_020800.3(IFT80):c.37+6C>A
|
rs865963221
|
|
NM_020800.3(IFT80):c.379G>T (p.Asp127Tyr)
|
rs1711973722
|
|
NM_020800.3(IFT80):c.37C>G (p.His13Asp)
|
|
|
NM_020800.3(IFT80):c.403A>C (p.Lys135Gln)
|
|
|
NM_020800.3(IFT80):c.437A>G (p.Gln146Arg)
|
rs2108394316
|
|
NM_020800.3(IFT80):c.440-18T>A
|
|
|
NM_020800.3(IFT80):c.448G>C (p.Val150Leu)
|
rs1721845305
|
|
NM_020800.3(IFT80):c.469C>A (p.Pro157Thr)
|
rs1721843816
|
|
NM_020800.3(IFT80):c.48A>T (p.Leu16Phe)
|
rs2108404512
|
|
NM_020800.3(IFT80):c.514A>G (p.Ile172Val)
|
rs2108377832
|
|
NM_020800.3(IFT80):c.515T>A (p.Ile172Asn)
|
rs1215757424
|
|
NM_020800.3(IFT80):c.548A>T (p.Gln183Leu)
|
|
|
NM_020800.3(IFT80):c.559C>T (p.His187Tyr)
|
|
|
NM_020800.3(IFT80):c.593C>T (p.Ser198Leu)
|
|
|
NM_020800.3(IFT80):c.601G>T (p.Asp201Tyr)
|
|
|
NM_020800.3(IFT80):c.612A>T (p.Leu204Phe)
|
rs1359553849
|
|
NM_020800.3(IFT80):c.625G>T (p.Asp209Tyr)
|
rs2108362446
|
|
NM_020800.3(IFT80):c.627C>A (p.Asp209Glu)
|
|
|
NM_020800.3(IFT80):c.640-3T>G
|
rs1270725764
|
|
NM_020800.3(IFT80):c.640G>A (p.Val214Ile)
|
rs1026071746
|
|
NM_020800.3(IFT80):c.64T>C (p.Trp22Arg)
|
rs140499147
|
|
NM_020800.3(IFT80):c.650G>A (p.Ser217Asn)
|
|
|
NM_020800.3(IFT80):c.686A>C (p.Glu229Ala)
|
rs1305518301
|
|
NM_020800.3(IFT80):c.698C>A (p.Thr233Asn)
|
rs1242544327
|
|
NM_020800.3(IFT80):c.719A>C (p.Asp240Ala)
|
|
|
NM_020800.3(IFT80):c.736G>C (p.Val246Leu)
|
|
|
NM_020800.3(IFT80):c.743C>G (p.Ser248Trp)
|
rs754764834
|
|
NM_020800.3(IFT80):c.748C>T (p.His250Tyr)
|
rs1721060438
|
|
NM_020800.3(IFT80):c.749A>T (p.His250Leu)
|
|
|
NM_020800.3(IFT80):c.751A>T (p.Thr251Ser)
|
rs2108360118
|
|
NM_020800.3(IFT80):c.760T>G (p.Leu254Val)
|
|
|
NM_020800.3(IFT80):c.763T>C (p.Cys255Arg)
|
rs2108360083
|
|
NM_020800.3(IFT80):c.764G>T (p.Cys255Phe)
|
rs1325257224
|
|
NM_020800.3(IFT80):c.769A>G (p.Lys257Glu)
|
rs1273801158
|
|
NM_020800.3(IFT80):c.777+19C>T
|
|
|
NM_020800.3(IFT80):c.777+5G>A
|
rs2108360069
|
|
NM_020800.3(IFT80):c.824T>C (p.Ile275Thr)
|
|
|
NM_020800.3(IFT80):c.825T>G (p.Ile275Met)
|
|
|
NM_020800.3(IFT80):c.895G>A (p.Val299Met)
|
rs1718074496
|
|
NM_020800.3(IFT80):c.896T>C (p.Val299Ala)
|
|
|
NM_020800.3(IFT80):c.92G>A (p.Cys31Tyr)
|
rs2108404468
|
|
NM_020800.3(IFT80):c.949G>A (p.Ala317Thr)
|
|
|
NM_020800.3(IFT80):c.950C>A (p.Ala317Asp)
|
rs1718070568
|
|
NM_020800.3(IFT80):c.952A>T (p.Met318Leu)
|
rs1718070417
|
|
NM_020800.3(IFT80):c.956A>G (p.Gln319Arg)
|
rs1718070086
|
|
NM_020800.3(IFT80):c.962G>A (p.Arg321His)
|
rs766354291
|
|
NM_021147.5(CCNO):c.132T>G (p.His44Gln)
|
|
|
NM_021147.5(CCNO):c.160G>A (p.Asp54Asn)
|
rs1745658924
|
|
NM_021147.5(CCNO):c.185A>G (p.Glu62Gly)
|
rs1745657575
|
|
NM_021147.5(CCNO):c.196T>C (p.Ser66Pro)
|
|
|
NM_021147.5(CCNO):c.248_262dup (p.Leu83_Ala87dup)
|
rs1554020078
|
|
NM_021147.5(CCNO):c.26C>T (p.Pro9Leu)
|
|
|
NM_021147.5(CCNO):c.301T>C (p.Tyr101His)
|
|
|
NM_021147.5(CCNO):c.370C>T (p.Arg124Trp)
|
|
|
NM_021147.5(CCNO):c.377C>T (p.Pro126Leu)
|
rs1554020059
|
|
NM_021147.5(CCNO):c.381+3G>A
|
|
|
NM_021147.5(CCNO):c.381+8G>A
|
|
|
NM_021147.5(CCNO):c.398G>T (p.Arg133Leu)
|
rs1554020012
|
|
NM_021147.5(CCNO):c.401G>A (p.Cys134Tyr)
|
|
|
NM_021147.5(CCNO):c.423C>G (p.Ile141Met)
|
|
|
NM_021147.5(CCNO):c.445C>A (p.Leu149Ile)
|
rs1170297559
|
|
NM_021147.5(CCNO):c.445C>G (p.Leu149Val)
|
|
|
NM_021147.5(CCNO):c.482T>C (p.Leu161Pro)
|
rs535119119
|
|
NM_021147.5(CCNO):c.488G>T (p.Arg163Leu)
|
|
|
NM_021147.5(CCNO):c.491T>C (p.Phe164Ser)
|
rs755937476
|
|
NM_021147.5(CCNO):c.519C>G (p.Asp173Glu)
|
|
|
NM_021147.5(CCNO):c.54_55delinsTT (p.Arg18_Arg19delinsSerTrp)
|
rs1745665257
|
|
NM_021147.5(CCNO):c.568-1G>A
|
rs1312679513
|
|
NM_021147.5(CCNO):c.575T>G (p.Val192Gly)
|
|
|
NM_021147.5(CCNO):c.587G>T (p.Arg196Leu)
|
|
|
NM_021147.5(CCNO):c.667_675dup (p.His225_Phe226insLysLeuHis)
|
|
|
NM_021147.5(CCNO):c.773C>G (p.Ala258Gly)
|
|
|
NM_021147.5(CCNO):c.800A>G (p.Glu267Gly)
|
|
|
NM_021147.5(CCNO):c.820G>T (p.Ala274Ser)
|
rs1745578274
|
|
NM_021147.5(CCNO):c.851C>A (p.Ala284Glu)
|
|
|
NM_021147.5(CCNO):c.978A>G (p.Ile326Met)
|
rs1554019818
|
|
NM_023036.6(DNAI2):c.103C>G (p.Pro35Ala)
|
|
|
NM_023036.6(DNAI2):c.1052C>T (p.Thr351Met)
|
|
|
NM_023036.6(DNAI2):c.1103A>G (p.Tyr368Cys)
|
|
|
NM_023036.6(DNAI2):c.1130C>A (p.Pro377Gln)
|
rs199726930
|
|
NM_023036.6(DNAI2):c.1130C>T (p.Pro377Leu)
|
rs199726930
|
|
NM_023036.6(DNAI2):c.1147G>C (p.Val383Leu)
|
|
|
NM_023036.6(DNAI2):c.1153G>A (p.Asp385Asn)
|
rs567531807
|
|
NM_023036.6(DNAI2):c.1163C>A (p.Ala388Asp)
|
|
|
NM_023036.6(DNAI2):c.1165C>G (p.Arg389Gly)
|
rs375896715
|
|
NM_023036.6(DNAI2):c.1177G>A (p.Glu393Lys)
|
rs1204464128
|
|
NM_023036.6(DNAI2):c.119A>G (p.Gln40Arg)
|
rs1060502200
|
|
NM_023036.6(DNAI2):c.120G>T (p.Gln40His)
|
rs1274866190
|
|
NM_023036.6(DNAI2):c.1252G>A (p.Val418Met)
|
rs564337753
|
|
NM_023036.6(DNAI2):c.1259C>T (p.Pro420Leu)
|
|
|
NM_023036.6(DNAI2):c.1309T>A (p.Phe437Ile)
|
|
|
NM_023036.6(DNAI2):c.1309T>C (p.Phe437Leu)
|
|
|
NM_023036.6(DNAI2):c.1348-14G>A
|
|
|
NM_023036.6(DNAI2):c.1348-3T>C
|
|
|
NM_023036.6(DNAI2):c.1348-4A>G
|
|
|
NM_023036.6(DNAI2):c.1376G>A (p.Arg459Gln)
|
|
|
NM_023036.6(DNAI2):c.1401C>G (p.Ile467Met)
|
rs371989598
|
|
NM_023036.6(DNAI2):c.1402G>A (p.Ala468Thr)
|
|
|
NM_023036.6(DNAI2):c.1494+10G>A
|
|
|
NM_023036.6(DNAI2):c.1495-3C>T
|
rs555938890
|
|
NM_023036.6(DNAI2):c.1504C>T (p.Arg502Cys)
|
|
|
NM_023036.6(DNAI2):c.1544G>A (p.Arg515Gln)
|
|
|
NM_023036.6(DNAI2):c.1553G>A (p.Arg518Gln)
|
|
|
NM_023036.6(DNAI2):c.1567G>T (p.Gly523Cys)
|
rs2053558785
|
|
NM_023036.6(DNAI2):c.1571A>G (p.Lys524Arg)
|
rs1211582211
|
|
NM_023036.6(DNAI2):c.1600G>A (p.Asp534Asn)
|
rs538543314
|
|
NM_023036.6(DNAI2):c.1628C>T (p.Ala543Val)
|
|
|
NM_023036.6(DNAI2):c.1645G>A (p.Glu549Lys)
|
|
|
NM_023036.6(DNAI2):c.1645GAG[2] (p.Glu551del)
|
|
|
NM_023036.6(DNAI2):c.1660G>C (p.Asp554His)
|
rs117932646
|
|
NM_023036.6(DNAI2):c.1663A>G (p.Ile555Val)
|
rs146727740
|
|
NM_023036.6(DNAI2):c.1700C>A (p.Ala567Asp)
|
|
|
NM_023036.6(DNAI2):c.170T>C (p.Met57Thr)
|
|
|
NM_023036.6(DNAI2):c.1722+1G>A
|
rs2053569243
|
|
NM_023036.6(DNAI2):c.173C>T (p.Ser58Leu)
|
|
|
NM_023036.6(DNAI2):c.1762G>A (p.Gly588Arg)
|
|
|
NM_023036.6(DNAI2):c.1786G>A (p.Gly596Arg)
|
rs1486049035
|
|
NM_023036.6(DNAI2):c.184-15C>A
|
rs774597549
|
|
NM_023036.6(DNAI2):c.197G>A (p.Arg66Gln)
|
|
|
NM_023036.6(DNAI2):c.204G>C (p.Glu68Asp)
|
rs1400041025
|
|
NM_023036.6(DNAI2):c.225C>G (p.Asn75Lys)
|
rs2143902905
|
|
NM_023036.6(DNAI2):c.253G>A (p.Val85Met)
|
|
|
NM_023036.6(DNAI2):c.296A>C (p.Lys99Thr)
|
rs200125805
|
|
NM_023036.6(DNAI2):c.335A>G (p.Gln112Arg)
|
rs2051638403
|
|
NM_023036.6(DNAI2):c.337C>T (p.Leu113Phe)
|
|
|
NM_023036.6(DNAI2):c.340G>A (p.Gly114Ser)
|
rs764225804
|
|
NM_023036.6(DNAI2):c.341G>T (p.Gly114Val)
|
rs1271406619
|
|
NM_023036.6(DNAI2):c.344C>A (p.Ser115Tyr)
|
|
|
NM_023036.6(DNAI2):c.371A>C (p.Asn124Thr)
|
|
|
NM_023036.6(DNAI2):c.408C>A (p.Asp136Glu)
|
rs770624431
|
|
NM_023036.6(DNAI2):c.410A>C (p.Glu137Ala)
|
|
|
NM_023036.6(DNAI2):c.467+6G>A
|
rs1486894999
|
|
NM_023036.6(DNAI2):c.502C>T (p.Leu168Phe)
|
|
|
NM_023036.6(DNAI2):c.50A>C (p.Gln17Pro)
|
|
|
NM_023036.6(DNAI2):c.517G>A (p.Asp173Asn)
|
|
|
NM_023036.6(DNAI2):c.527_529delinsTAGTGAGACTTCATTTCTACACTTTTTTTTTAATTACCC (p.Arg176_Lys177delinsIleValArgLeuHisPheTyrThrPhePheLeuIleThrGln)
|
rs2143941130
|
|
NM_023036.6(DNAI2):c.587G>A (p.Ser196Asn)
|
rs1567850585
|
|
NM_023036.6(DNAI2):c.609G>A (p.Leu203=)
|
rs2143941710
|
|
NM_023036.6(DNAI2):c.631C>A (p.Leu211Ile)
|
|
|
NM_023036.6(DNAI2):c.638T>G (p.Leu213Arg)
|
rs1060502201
|
|
NM_023036.6(DNAI2):c.658G>A (p.Val220Met)
|
|
|
NM_023036.6(DNAI2):c.680A>G (p.Lys227Arg)
|
|
|
NM_023036.6(DNAI2):c.691G>A (p.Val231Ile)
|
|
|
NM_023036.6(DNAI2):c.704G>T (p.Gly235Val)
|
|
|
NM_023036.6(DNAI2):c.70C>G (p.Gln24Glu)
|
rs777662498
|
|
NM_023036.6(DNAI2):c.712A>G (p.Asn238Asp)
|
|
|
NM_023036.6(DNAI2):c.760G>A (p.Glu254Lys)
|
|
|
NM_023036.6(DNAI2):c.773T>C (p.Ile258Thr)
|
|
|
NM_023036.6(DNAI2):c.781A>G (p.Ser261Gly)
|
|
|
NM_023036.6(DNAI2):c.787C>G (p.Arg263Gly)
|
rs137852998
|
|
NM_023036.6(DNAI2):c.900_905del (p.Thr301_Glu302del)
|
rs2144035143
|
|
NM_023036.6(DNAI2):c.95T>A (p.Met32Lys)
|
|
|
NM_023036.6(DNAI2):c.965C>A (p.Ser322Tyr)
|
rs2052738856
|
|
NM_024649.5(BBS1):c.1006C>G (p.Leu336Val)
|
rs765494351
|
|
NM_024649.5(BBS1):c.1020_1021delinsGT (p.Arg341Trp)
|
|
|
NM_024649.5(BBS1):c.1033G>T (p.Ala345Ser)
|
|
|
NM_024649.5(BBS1):c.1075C>T (p.Arg359Cys)
|
|
|
NM_024649.5(BBS1):c.1076G>A (p.Arg359His)
|
|
|
NM_024649.5(BBS1):c.1076G>T (p.Arg359Leu)
|
rs147766972
|
|
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro)
|
rs540217506
|
|
NM_024649.5(BBS1):c.1106C>T (p.Thr369Ile)
|
|
|
NM_024649.5(BBS1):c.1108C>T (p.Pro370Ser)
|
rs2134797927
|
|
NM_024649.5(BBS1):c.1112A>G (p.Asp371Gly)
|
|
|
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg)
|
rs1565287512
|
|
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp)
|
rs752299442
|
|
NM_024649.5(BBS1):c.1139G>T (p.Arg380Leu)
|
|
|
NM_024649.5(BBS1):c.1141T>C (p.Tyr381His)
|
|
|
NM_024649.5(BBS1):c.1155C>G (p.Asp385Glu)
|
rs1856480450
|
|
NM_024649.5(BBS1):c.1162C>G (p.Leu388Val)
|
|
|
NM_024649.5(BBS1):c.1164CAT[1] (p.Ile389del)
|
rs1401696592
|
|
NM_024649.5(BBS1):c.1168A>G (p.Met390Val)
|
|
|
NM_024649.5(BBS1):c.1177C>G (p.Arg393Gly)
|
rs1160669210
|
|
NM_024649.5(BBS1):c.1181-3T>G
|
rs1856511506
|
|
NM_024649.5(BBS1):c.1181-9C>G
|
rs769820955
|
|
NM_024649.5(BBS1):c.1184G>T (p.Gly395Val)
|
rs2134812092
|
|
NM_024649.5(BBS1):c.1193T>C (p.Ile398Thr)
|
|
|
NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro)
|
rs767150997
|
|
NM_024649.5(BBS1):c.1210C>A (p.Arg404Ser)
|
rs2134812288
|
|
NM_024649.5(BBS1):c.1211G>A (p.Arg404His)
|
|
|
NM_024649.5(BBS1):c.1225G>T (p.Val409Leu)
|
|
|
NM_024649.5(BBS1):c.1244T>G (p.Val415Gly)
|
|
|
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr)
|
rs1346584719
|
|
NM_024649.5(BBS1):c.1267A>G (p.Met423Val)
|
|
|
NM_024649.5(BBS1):c.1286G>A (p.Arg429Gln)
|
|
|
NM_024649.5(BBS1):c.1339+13C>G
|
|
|
NM_024649.5(BBS1):c.1339+5G>A
|
rs2134813058
|
|
NM_024649.5(BBS1):c.1348C>T (p.Arg450Trp)
|
|
|
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys)
|
rs745460551
|
|
NM_024649.5(BBS1):c.1379G>A (p.Arg460His)
|
|
|
NM_024649.5(BBS1):c.1384C>T (p.Arg462Cys)
|
|
|
NM_024649.5(BBS1):c.1385G>A (p.Arg462His)
|
|
|
NM_024649.5(BBS1):c.1385G>T (p.Arg462Leu)
|
|
|
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys)
|
rs374706769
|
|
NM_024649.5(BBS1):c.1468G>A (p.Ala490Thr)
|
|
|
NM_024649.5(BBS1):c.1473+3G>A
|
|
|
NM_024649.5(BBS1):c.1497T>C (p.Phe499=)
|
|
|
NM_024649.5(BBS1):c.14C>T (p.Ser5Phe)
|
|
|
NM_024649.5(BBS1):c.1508_1509delinsAC (p.Leu503His)
|
rs886044274
|
|
NM_024649.5(BBS1):c.152A>C (p.Glu51Ala)
|
|
|
NM_024649.5(BBS1):c.1532C>T (p.Thr511Ile)
|
|
|
NM_024649.5(BBS1):c.1534C>T (p.Arg512Cys)
|
|
|
NM_024649.5(BBS1):c.1535G>T (p.Arg512Leu)
|
|
|
NM_024649.5(BBS1):c.1544T>A (p.Leu515Gln)
|
|
|
NM_024649.5(BBS1):c.1565T>C (p.Leu522Pro)
|
rs752247232
|
|
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)
|
rs863224782
|
|
NM_024649.5(BBS1):c.1577C>T (p.Ala526Val)
|
|
|
NM_024649.5(BBS1):c.159+4A>G
|
|
|
NM_024649.5(BBS1):c.1591C>A (p.Pro531Thr)
|
|
|
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu)
|
rs142648652
|
|
NM_024649.5(BBS1):c.1600_1601delinsGC (p.Phe534Ala)
|
rs2134837535
|
|
NM_024649.5(BBS1):c.1609-7A>G
|
|
|
NM_024649.5(BBS1):c.1628G>A (p.Gly543Glu)
|
rs778941006
|
|
NM_024649.5(BBS1):c.1643T>C (p.Leu548Pro)
|
rs2134840970
|
|
NM_024649.5(BBS1):c.1660A>C (p.Ser554Arg)
|
|
|
NM_024649.5(BBS1):c.1673A>G (p.Lys558Arg)
|
rs2134841179
|
|
NM_024649.5(BBS1):c.1693A>G (p.Lys565Glu)
|
rs1856791342
|
|
NM_024649.5(BBS1):c.1694A>C (p.Lys565Thr)
|
|
|
NM_024649.5(BBS1):c.1695+4G>C
|
|
|
NM_024649.5(BBS1):c.1696-10T>G
|
|
|
NM_024649.5(BBS1):c.1696-1G>A
|
rs1856802024
|
|
NM_024649.5(BBS1):c.1708C>G (p.Arg570Gly)
|
rs1434577015
|
|
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln)
|
rs1856803176
|
|
NM_024649.5(BBS1):c.1721G>A (p.Ser574Asn)
|
|
|
NM_024649.5(BBS1):c.1737T>G (p.Ser579Arg)
|
rs1856804554
|
|
NM_024649.5(BBS1):c.1752G>A (p.Met584Ile)
|
rs769773058
|
|
NM_024649.5(BBS1):c.1753C>A (p.Pro585Thr)
|
|
|
NM_024649.5(BBS1):c.1777G>T (p.Ala593Ser)
|
|
|
NM_024649.5(BBS1):c.179G>C (p.Gly60Ala)
|
|
|
NM_024649.5(BBS1):c.194A>G (p.Gln65Arg)
|
rs1856007588
|
|
NM_024649.5(BBS1):c.223C>A (p.Leu75Met)
|
|
|
NM_024649.5(BBS1):c.227T>A (p.Val76Glu)
|
rs2134771309
|
|
NM_024649.5(BBS1):c.230T>C (p.Met77Thr)
|
rs377037816
|
|
NM_024649.5(BBS1):c.254T>G (p.Leu85Arg)
|
|
|
NM_024649.5(BBS1):c.256C>T (p.Pro86Ser)
|
rs2134771356
|
|
NM_024649.5(BBS1):c.290A>G (p.His97Arg)
|
|
|
NM_024649.5(BBS1):c.298C>T (p.Arg100Trp)
|
|
|
NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)
|
|
|
NM_024649.5(BBS1):c.316C>G (p.Leu106Val)
|
rs137853913
|
|
NM_024649.5(BBS1):c.316C>T (p.Leu106Phe)
|
rs137853913
|
|
NM_024649.5(BBS1):c.337T>C (p.Tyr113His)
|
rs2134771484
|
|
NM_024649.5(BBS1):c.35G>A (p.Cys12Tyr)
|
|
|
NM_024649.5(BBS1):c.374G>A (p.Ser125Asn)
|
|
|
NM_024649.5(BBS1):c.398C>T (p.Pro133Leu)
|
|
|
NM_024649.5(BBS1):c.41C>T (p.Ala14Val)
|
|
|
NM_024649.5(BBS1):c.424G>T (p.Ala142Ser)
|
|
|
NM_024649.5(BBS1):c.433G>T (p.Asp145Tyr)
|
|
|
NM_024649.5(BBS1):c.446C>T (p.Pro149Leu)
|
rs1486897768
|
|
NM_024649.5(BBS1):c.465G>A (p.Met155Ile)
|
|
|
NM_024649.5(BBS1):c.480G>T (p.Arg160=)
|
|
|
NM_024649.5(BBS1):c.491A>G (p.Glu164Gly)
|
rs1319438351
|
|
NM_024649.5(BBS1):c.514C>T (p.Leu172Phe)
|
rs1026985396
|
|
NM_024649.5(BBS1):c.586C>T (p.Arg196Trp)
|
|
|
NM_024649.5(BBS1):c.592-20C>G
|
rs778903752
|
|
NM_024649.5(BBS1):c.592-7_592-5del
|
rs774944051
|
|
NM_024649.5(BBS1):c.59A>G (p.Asn20Ser)
|
|
|
NM_024649.5(BBS1):c.605C>G (p.Thr202Ser)
|
|
|
NM_024649.5(BBS1):c.614C>T (p.Thr205Ile)
|
|
|
NM_024649.5(BBS1):c.634G>A (p.Asp212Asn)
|
rs2134780459
|
|
NM_024649.5(BBS1):c.650C>T (p.Ser217Phe)
|
|
|
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg)
|
rs1856141438
|
|
NM_024649.5(BBS1):c.686T>C (p.Leu229Pro)
|
|
|
NM_024649.5(BBS1):c.718G>T (p.Ala240Ser)
|
|
|
NM_024649.5(BBS1):c.723+14C>G
|
|
|
NM_024649.5(BBS1):c.724-5T>A
|
rs2134784385
|
|
NM_024649.5(BBS1):c.729C>A (p.Ser243Arg)
|
rs1180861221
|
|
NM_024649.5(BBS1):c.731T>C (p.Leu244Pro)
|
rs2134784436
|
|
NM_024649.5(BBS1):c.739G>C (p.Val247Leu)
|
|
|
NM_024649.5(BBS1):c.768G>C (p.Gln256His)
|
|
|
NM_024649.5(BBS1):c.771T>G (p.Phe257Leu)
|
rs367686869
|
|
NM_024649.5(BBS1):c.77C>T (p.Ala26Val)
|
rs866558676
|
|
NM_024649.5(BBS1):c.785G>A (p.Arg262Gln)
|
|
|
NM_024649.5(BBS1):c.793G>A (p.Ala265Thr)
|
|
|
NM_024649.5(BBS1):c.794C>T (p.Ala265Val)
|
|
|
NM_024649.5(BBS1):c.7G>T (p.Ala3Ser)
|
|
|
NM_024649.5(BBS1):c.831-3C>G
|
rs113994179
|
|
NM_024649.5(BBS1):c.831-3C>T
|
|
|
NM_024649.5(BBS1):c.83A>G (p.Tyr28Cys)
|
rs1263024783
|
|
NM_024649.5(BBS1):c.886A>G (p.Ile296Val)
|
|
|
NM_024649.5(BBS1):c.889C>T (p.Arg297Trp)
|
|
|
NM_024649.5(BBS1):c.907G>C (p.Val303Leu)
|
rs2134795278
|
|
NM_024649.5(BBS1):c.910G>T (p.Val304Leu)
|
rs1228755309
|
|
NM_024649.5(BBS1):c.938G>A (p.Gly313Asp)
|
rs1280115378
|
|
NM_024649.5(BBS1):c.93G>C (p.Met31Ile)
|
|
|
NM_024649.5(BBS1):c.951+3G>A
|
rs1590766778
|
|
NM_024649.5(BBS1):c.952-8C>G
|
rs1856353251
|
|
NM_024649.5(BBS1):c.971T>C (p.Val324Ala)
|
|
|
NM_024649.5(BBS1):c.982G>A (p.Ala328Thr)
|
|
|
NM_024649.5(BBS1):c.999G>A (p.Met333Ile)
|
rs1856357942
|
|
NM_024649.5(BBS1):c.999G>T (p.Met333Ile)
|
rs1856357942
|
|
NM_024685.4(BBS10):c.1009_1010inv (p.Glu337Ser)
|
|
|
NM_024685.4(BBS10):c.1010A>G (p.Glu337Gly)
|
rs752630373
|
|
NM_024685.4(BBS10):c.1025T>C (p.Ile342Thr)
|
rs1951764046
|
|
NM_024685.4(BBS10):c.1027C>T (p.Arg343Trp)
|
|
|
NM_024685.4(BBS10):c.1032G>T (p.Arg344Ser)
|
|
|
NM_024685.4(BBS10):c.1036A>G (p.Ile346Val)
|
|
|
NM_024685.4(BBS10):c.1048C>A (p.Pro350Thr)
|
|
|
NM_024685.4(BBS10):c.1054G>A (p.Val352Ile)
|
rs779201114
|
|
NM_024685.4(BBS10):c.106G>T (p.Val36Phe)
|
rs896544129
|
|
NM_024685.4(BBS10):c.1072T>C (p.Ser358Pro)
|
|
|
NM_024685.4(BBS10):c.1081G>A (p.Glu361Lys)
|
rs1565809819
|
|
NM_024685.4(BBS10):c.1112G>C (p.Cys371Ser)
|
rs1951763406
|
|
NM_024685.4(BBS10):c.1133C>T (p.Ser378Phe)
|
rs1951763168
|
|
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu)
|
rs775492103
|
|
NM_024685.4(BBS10):c.1145T>G (p.Val382Gly)
|
rs2136090562
|
|
NM_024685.4(BBS10):c.1158G>C (p.Leu386Phe)
|
|
|
NM_024685.4(BBS10):c.1160T>C (p.Ile387Thr)
|
|
|
NM_024685.4(BBS10):c.1185C>G (p.His395Gln)
|
rs863224793
|
|
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
|
|
|
NM_024685.4(BBS10):c.1192G>A (p.Val398Ile)
|
|
|
NM_024685.4(BBS10):c.1195C>A (p.Leu399Ile)
|
|
|
NM_024685.4(BBS10):c.1201G>A (p.Gly401Arg)
|
|
|
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr)
|
rs1951762170
|
|
NM_024685.4(BBS10):c.1235A>T (p.Asp412Val)
|
|
|
NM_024685.4(BBS10):c.1258A>C (p.Met420Leu)
|
rs1951761840
|
|
NM_024685.4(BBS10):c.1277A>G (p.Lys426Arg)
|
|
|
NM_024685.4(BBS10):c.1280A>G (p.Asp427Gly)
|
|
|
NM_024685.4(BBS10):c.1297A>T (p.Met433Leu)
|
rs987403283
|
|
NM_024685.4(BBS10):c.1325C>G (p.Thr442Ser)
|
|
|
NM_024685.4(BBS10):c.1336T>C (p.Phe446Leu)
|
|
|
NM_024685.4(BBS10):c.1349A>G (p.Asn450Ser)
|
|
|
NM_024685.4(BBS10):c.136C>T (p.Leu46Phe)
|
rs1951778317
|
|
NM_024685.4(BBS10):c.13A>G (p.Met5Val)
|
|
|
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys)
|
rs1022090476
|
|
NM_024685.4(BBS10):c.1401G>C (p.Arg467Ser)
|
|
|
NM_024685.4(BBS10):c.1440G>C (p.Leu480Phe)
|
|
|
NM_024685.4(BBS10):c.1442A>G (p.Glu481Gly)
|
|
|
NM_024685.4(BBS10):c.1483A>C (p.Ile495Leu)
|
|
|
NM_024685.4(BBS10):c.1490A>G (p.Asp497Gly)
|
|
|
NM_024685.4(BBS10):c.1505C>A (p.Thr502Lys)
|
|
|
NM_024685.4(BBS10):c.1522A>G (p.Thr508Ala)
|
|
|
NM_024685.4(BBS10):c.1525C>T (p.Pro509Ser)
|
|
|
NM_024685.4(BBS10):c.1535C>T (p.Thr512Ile)
|
|
|
NM_024685.4(BBS10):c.1540A>G (p.Thr514Ala)
|
|
|
NM_024685.4(BBS10):c.155G>A (p.Gly52Asp)
|
|
|
NM_024685.4(BBS10):c.1589G>A (p.Arg530Lys)
|
|
|
NM_024685.4(BBS10):c.158G>C (p.Arg53Pro)
|
|
|
NM_024685.4(BBS10):c.1592A>G (p.Asn531Ser)
|
rs2136090095
|
|
NM_024685.4(BBS10):c.1596G>C (p.Arg532Ser)
|
|
|
NM_024685.4(BBS10):c.1604A>T (p.Asp535Val)
|
rs1951758028
|
|
NM_024685.4(BBS10):c.1606T>C (p.Tyr536His)
|
rs2136090060
|
|
NM_024685.4(BBS10):c.1606T>G (p.Tyr536Asp)
|
|
|
NM_024685.4(BBS10):c.1634C>G (p.Ser545Cys)
|
|
|
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp)
|
rs770880993
|
|
NM_024685.4(BBS10):c.1664T>C (p.Ile555Thr)
|
|
|
NM_024685.4(BBS10):c.1667A>G (p.Glu556Gly)
|
|
|
NM_024685.4(BBS10):c.166G>C (p.Glu56Gln)
|
|
|
NM_024685.4(BBS10):c.1673_1675del (p.Ser558del)
|
|
|
NM_024685.4(BBS10):c.1684T>G (p.Leu562Val)
|
|
|
NM_024685.4(BBS10):c.1696A>C (p.Asn566His)
|
rs144402299
|
|
NM_024685.4(BBS10):c.1724C>T (p.Pro575Leu)
|
|
|
NM_024685.4(BBS10):c.1747A>G (p.Met583Val)
|
rs2136089937
|
|
NM_024685.4(BBS10):c.1780A>G (p.Met594Val)
|
rs1951756219
|
|
NM_024685.4(BBS10):c.1790G>T (p.Gly597Val)
|
rs1264836197
|
|
NM_024685.4(BBS10):c.1799T>C (p.Leu600Ser)
|
|
|
NM_024685.4(BBS10):c.1802C>T (p.Pro601Leu)
|
|
|
NM_024685.4(BBS10):c.1807G>T (p.Gly603Cys)
|
|
|
NM_024685.4(BBS10):c.1811G>C (p.Gly604Ala)
|
rs1951755940
|
|
NM_024685.4(BBS10):c.1826T>C (p.Leu609Ser)
|
|
|
NM_024685.4(BBS10):c.1850A>G (p.Tyr617Cys)
|
rs749876979
|
|
NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg)
|
rs1951755649
|
|
NM_024685.4(BBS10):c.1871C>T (p.Ser624Leu)
|
rs768385647
|
|
NM_024685.4(BBS10):c.187C>A (p.Pro63Thr)
|
rs371540031
|
|
NM_024685.4(BBS10):c.187C>G (p.Pro63Ala)
|
|
|
NM_024685.4(BBS10):c.188C>T (p.Pro63Leu)
|
rs2136091508
|
|
NM_024685.4(BBS10):c.1891A>G (p.Met631Val)
|
|
|
NM_024685.4(BBS10):c.1896A>G (p.Ile632Met)
|
|
|
NM_024685.4(BBS10):c.1901C>G (p.Ala634Gly)
|
rs12099880
|
|
NM_024685.4(BBS10):c.1907C>T (p.Ala636Val)
|
rs113224628
|
|
NM_024685.4(BBS10):c.1909C>A (p.Leu637Ile)
|
rs777954013
|
|
NM_024685.4(BBS10):c.1909C>G (p.Leu637Val)
|
rs777954013
|
|
NM_024685.4(BBS10):c.1915G>A (p.Gly639Ser)
|
|
|
NM_024685.4(BBS10):c.1925A>G (p.Lys642Arg)
|
|
|
NM_024685.4(BBS10):c.1930C>T (p.Leu644Phe)
|
|
|
NM_024685.4(BBS10):c.1964C>T (p.Pro655Leu)
|
|
|
NM_024685.4(BBS10):c.1973A>G (p.Tyr658Cys)
|
rs886049848
|
|
NM_024685.4(BBS10):c.1975A>G (p.Ile659Val)
|
|
|
NM_024685.4(BBS10):c.1980A>T (p.Arg660Ser)
|
|
|
NM_024685.4(BBS10):c.199A>G (p.Met67Val)
|
|
|
NM_024685.4(BBS10):c.2002A>G (p.Asn668Asp)
|
|
|
NM_024685.4(BBS10):c.2039C>T (p.Ser680Leu)
|
|
|
NM_024685.4(BBS10):c.203T>C (p.Ile68Thr)
|
rs750428156
|
|
NM_024685.4(BBS10):c.2057A>G (p.Gln686Arg)
|
|
|
NM_024685.4(BBS10):c.2091A>C (p.Lys697Asn)
|
rs1565809262
|
|
NM_024685.4(BBS10):c.2095T>G (p.Leu699Val)
|
|
|
NM_024685.4(BBS10):c.209A>G (p.Asp70Gly)
|
rs529208223
|
|
NM_024685.4(BBS10):c.2107A>G (p.Met703Val)
|
|
|
NM_024685.4(BBS10):c.2144A>C (p.His715Pro)
|
|
|
NM_024685.4(BBS10):c.2146A>C (p.Asn716His)
|
rs1951753000
|
|
NM_024685.4(BBS10):c.2167C>G (p.Leu723Val)
|
rs1003705267
|
|
NM_024685.4(BBS10):c.221G>T (p.Ser74Ile)
|
|
|
NM_024685.4(BBS10):c.22G>T (p.Ala8Ser)
|
|
|
NM_024685.4(BBS10):c.23C>G (p.Ala8Gly)
|
rs1216242140
|
|
NM_024685.4(BBS10):c.268C>G (p.Leu90Val)
|
|
|
NM_024685.4(BBS10):c.284G>C (p.Arg95Thr)
|
|
|
NM_024685.4(BBS10):c.2T>C (p.Met1Thr)
|
rs1382481529
|
|
NM_024685.4(BBS10):c.2_5del (p.Met1fs)
|
|
|
NM_024685.4(BBS10):c.301A>G (p.Thr101Ala)
|
|
|
NM_024685.4(BBS10):c.317A>C (p.Asp106Ala)
|
|
|
NM_024685.4(BBS10):c.326T>C (p.Met109Thr)
|
rs2136091232
|
|
NM_024685.4(BBS10):c.329G>A (p.Cys110Tyr)
|
rs2136091229
|
|
NM_024685.4(BBS10):c.340C>G (p.Gln114Glu)
|
|
|
NM_024685.4(BBS10):c.350G>A (p.Gly117Glu)
|
rs1951771611
|
|
NM_024685.4(BBS10):c.350G>C (p.Gly117Ala)
|
rs1951771611
|
|
NM_024685.4(BBS10):c.358T>C (p.Trp120Arg)
|
|
|
NM_024685.4(BBS10):c.368G>A (p.Cys123Tyr)
|
rs2136091207
|
|
NM_024685.4(BBS10):c.373C>T (p.Arg125Trp)
|
|
|
NM_024685.4(BBS10):c.383T>C (p.Phe128Ser)
|
rs1592492746
|
|
NM_024685.4(BBS10):c.397C>T (p.Leu133Phe)
|
rs750446869
|
|
NM_024685.4(BBS10):c.406T>C (p.Phe136Leu)
|
rs769181256
|
|
NM_024685.4(BBS10):c.450T>G (p.Ser150Arg)
|
rs573346325
|
|
NM_024685.4(BBS10):c.455A>G (p.His152Arg)
|
|
|
NM_024685.4(BBS10):c.473C>G (p.Ser158Trp)
|
|
|
NM_024685.4(BBS10):c.481A>G (p.Lys161Glu)
|
|
|
NM_024685.4(BBS10):c.490A>C (p.Thr164Pro)
|
|
|
NM_024685.4(BBS10):c.501G>C (p.Arg167Ser)
|
|
|
NM_024685.4(BBS10):c.504C>G (p.Ser168Arg)
|
|
|
NM_024685.4(BBS10):c.524_526del (p.Glu175del)
|
rs2136091044
|
|
NM_024685.4(BBS10):c.544G>C (p.Val182Leu)
|
rs890996897
|
|
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln)
|
rs1001512051
|
|
NM_024685.4(BBS10):c.563A>T (p.Lys188Ile)
|
rs1239540905
|
|
NM_024685.4(BBS10):c.572C>T (p.Ser191Leu)
|
rs1951767969
|
|
NM_024685.4(BBS10):c.575A>C (p.Gln192Pro)
|
|
|
NM_024685.4(BBS10):c.59T>C (p.Val20Ala)
|
|
|
NM_024685.4(BBS10):c.625G>T (p.Gly209Cys)
|
rs1396355979
|
|
NM_024685.4(BBS10):c.62T>C (p.Leu21Pro)
|
|
|
NM_024685.4(BBS10):c.647A>C (p.Asp216Ala)
|
|
|
NM_024685.4(BBS10):c.648C>A (p.Asp216Glu)
|
|
|
NM_024685.4(BBS10):c.650A>G (p.His217Arg)
|
|
|
NM_024685.4(BBS10):c.655G>A (p.Val219Ile)
|
|
|
NM_024685.4(BBS10):c.655G>T (p.Val219Leu)
|
|
|
NM_024685.4(BBS10):c.671G>C (p.Gly224Ala)
|
|
|
NM_024685.4(BBS10):c.685C>A (p.Pro229Thr)
|
|
|
NM_024685.4(BBS10):c.700A>G (p.Arg234Gly)
|
|
|
NM_024685.4(BBS10):c.706A>T (p.Ile236Leu)
|
|
|
NM_024685.4(BBS10):c.708A>G (p.Ile236Met)
|
rs1193290653
|
|
NM_024685.4(BBS10):c.745C>T (p.Arg249Cys)
|
rs1242888821
|
|
NM_024685.4(BBS10):c.752C>A (p.Ala251Glu)
|
|
|
NM_024685.4(BBS10):c.767G>T (p.Arg256Leu)
|
|
|
NM_024685.4(BBS10):c.791T>G (p.Ile264Ser)
|
rs1236502453
|
|
NM_024685.4(BBS10):c.796C>G (p.Pro266Ala)
|
|
|
NM_024685.4(BBS10):c.797C>T (p.Pro266Leu)
|
|
|
NM_024685.4(BBS10):c.800T>A (p.Leu267His)
|
rs1592492358
|
|
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala)
|
rs781723681
|
|
NM_024685.4(BBS10):c.83G>C (p.Cys28Ser)
|
|
|
NM_024685.4(BBS10):c.864_872del (p.Phe288_Met291delinsLeu)
|
|
|
NM_024685.4(BBS10):c.881C>T (p.Thr294Ile)
|
|
|
NM_024685.4(BBS10):c.901C>G (p.Leu301Val)
|
rs1555202666
|
|
NM_024685.4(BBS10):c.904C>T (p.His302Tyr)
|
rs954562822
|
|
NM_024685.4(BBS10):c.91C>T (p.Pro31Ser)
|
|
|
NM_024685.4(BBS10):c.925C>T (p.Leu309Phe)
|
rs2136090757
|
|
NM_024685.4(BBS10):c.92C>T (p.Pro31Leu)
|
rs1486182131
|
|
NM_024685.4(BBS10):c.932C>T (p.Ser311Phe)
|
rs1951764875
|
|
NM_024685.4(BBS10):c.946C>G (p.Pro316Ala)
|
rs2136090741
|
|
NM_024685.4(BBS10):c.94G>A (p.Glu32Lys)
|
rs1208975003
|
|
NM_024685.4(BBS10):c.967G>T (p.Ala323Ser)
|
|
|
NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg)
|
rs750665609
|
|
NM_024753.5(TTC21B):c.1010A>G (p.Gln337Arg)
|
|
|
NM_024753.5(TTC21B):c.1040A>G (p.Tyr347Cys)
|
|
|
NM_024753.5(TTC21B):c.1048G>A (p.Ala350Thr)
|
rs752711108
|
|
NM_024753.5(TTC21B):c.1048G>T (p.Ala350Ser)
|
rs752711108
|
|
NM_024753.5(TTC21B):c.1057C>G (p.Leu353Val)
|
|
|
NM_024753.5(TTC21B):c.1061A>G (p.Asp354Gly)
|
rs902487352
|
|
NM_024753.5(TTC21B):c.1067C>T (p.Thr356Ile)
|
|
|
NM_024753.5(TTC21B):c.1083A>G (p.Leu361=)
|
|
|
NM_024753.5(TTC21B):c.1087+3A>G
|
|
|
NM_024753.5(TTC21B):c.1103A>T (p.Gln368Leu)
|
|
|
NM_024753.5(TTC21B):c.1113A>T (p.Glu371Asp)
|
|
|
NM_024753.5(TTC21B):c.1154A>G (p.Asn385Ser)
|
|
|
NM_024753.5(TTC21B):c.1155T>A (p.Asn385Lys)
|
rs2105343770
|
|
NM_024753.5(TTC21B):c.1172T>C (p.Ile391Thr)
|
|
|
NM_024753.5(TTC21B):c.1181C>G (p.Ser394Cys)
|
rs748339995
|
|
NM_024753.5(TTC21B):c.1181C>T (p.Ser394Phe)
|
rs748339995
|
|
NM_024753.5(TTC21B):c.1185G>A (p.Ala395=)
|
rs747042147
|
|
NM_024753.5(TTC21B):c.119G>A (p.Arg40Lys)
|
|
|
NM_024753.5(TTC21B):c.119G>C (p.Arg40Thr)
|
rs1687700084
|
|
NM_024753.5(TTC21B):c.11A>C (p.Gln4Pro)
|
|
|
NM_024753.5(TTC21B):c.1201C>A (p.His401Asn)
|
rs768881808
|
|
NM_024753.5(TTC21B):c.1202A>G (p.His401Arg)
|
rs780159682
|
|
NM_024753.5(TTC21B):c.1218G>T (p.Met406Ile)
|
|
|
NM_024753.5(TTC21B):c.1222A>G (p.Lys408Glu)
|
rs2105343236
|
|
NM_024753.5(TTC21B):c.1231C>G (p.Arg411Gly)
|
rs185089786
|
|
NM_024753.5(TTC21B):c.1232_1234del (p.Arg411del)
|
rs768933427
|
|
NM_024753.5(TTC21B):c.1234C>G (p.Gln412Glu)
|
rs2105343199
|
|
NM_024753.5(TTC21B):c.1240G>A (p.Glu414Lys)
|
|
|
NM_024753.5(TTC21B):c.1273A>G (p.Thr425Ala)
|
|
|
NM_024753.5(TTC21B):c.1276C>G (p.His426Asp)
|
|
|
NM_024753.5(TTC21B):c.1292_1294del (p.Glu431del)
|
|
|
NM_024753.5(TTC21B):c.1339T>G (p.Phe447Val)
|
|
|
NM_024753.5(TTC21B):c.1358T>G (p.Met453Arg)
|
|
|
NM_024753.5(TTC21B):c.1396C>T (p.Pro466Ser)
|
rs956461172
|
|
NM_024753.5(TTC21B):c.1415C>T (p.Pro472Leu)
|
|
|
NM_024753.5(TTC21B):c.1432A>G (p.Ile478Val)
|
rs948455096
|
|
NM_024753.5(TTC21B):c.1438G>A (p.Val480Ile)
|
|
|
NM_024753.5(TTC21B):c.1443G>A (p.Leu481=)
|
|
|
NM_024753.5(TTC21B):c.1490T>C (p.Leu497Pro)
|
|
|
NM_024753.5(TTC21B):c.1512G>T (p.Leu504Phe)
|
|
|
NM_024753.5(TTC21B):c.1523T>C (p.Ile508Thr)
|
rs769248659
|
|
NM_024753.5(TTC21B):c.1537A>G (p.Asn513Asp)
|
rs939423391
|
|
NM_024753.5(TTC21B):c.1561C>T (p.His521Tyr)
|
|
|
NM_024753.5(TTC21B):c.1598C>A (p.Ala533Asp)
|
|
|
NM_024753.5(TTC21B):c.1621A>G (p.Lys541Glu)
|
rs2105329308
|
|
NM_024753.5(TTC21B):c.1654T>C (p.Cys552Arg)
|
|
|
NM_024753.5(TTC21B):c.1674G>A (p.Lys558=)
|
|
|
NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly)
|
rs1354455514
|
|
NM_024753.5(TTC21B):c.1714T>C (p.Ser572Pro)
|
rs2105327024
|
|
NM_024753.5(TTC21B):c.1739C>T (p.Ala580Val)
|
|
|
NM_024753.5(TTC21B):c.1744G>A (p.Ala582Thr)
|
rs755056642
|
|
NM_024753.5(TTC21B):c.1756C>A (p.Leu586Met)
|
rs1686216272
|
|
NM_024753.5(TTC21B):c.1774T>G (p.Leu592Val)
|
|
|
NM_024753.5(TTC21B):c.1785G>T (p.Met595Ile)
|
|
|
NM_024753.5(TTC21B):c.1790G>T (p.Arg597Ile)
|
|
|
NM_024753.5(TTC21B):c.1801T>C (p.Ser601Pro)
|
rs1686214416
|
|
NM_024753.5(TTC21B):c.1807A>G (p.Lys603Glu)
|
|
|
NM_024753.5(TTC21B):c.1816G>A (p.Asp606Asn)
|
|
|
NM_024753.5(TTC21B):c.1832T>C (p.Val611Ala)
|
|
|
NM_024753.5(TTC21B):c.1836T>A (p.Asp612Glu)
|
|
|
NM_024753.5(TTC21B):c.187A>G (p.Ile63Val)
|
|
|
NM_024753.5(TTC21B):c.1883G>T (p.Arg628Leu)
|
|
|
NM_024753.5(TTC21B):c.1906G>A (p.Ala636Thr)
|
|
|
NM_024753.5(TTC21B):c.1927G>A (p.Ala643Thr)
|
|
|
NM_024753.5(TTC21B):c.1937A>T (p.Glu646Val)
|
rs1376184705
|
|
NM_024753.5(TTC21B):c.1960G>A (p.Val654Met)
|
|
|
NM_024753.5(TTC21B):c.1972A>G (p.Ile658Val)
|
|
|
NM_024753.5(TTC21B):c.1972A>T (p.Ile658Phe)
|
rs2105324307
|
|
NM_024753.5(TTC21B):c.2005G>C (p.Asp669His)
|
rs1406594364
|
|
NM_024753.5(TTC21B):c.2009T>C (p.Ile670Thr)
|
rs778504663
|
|
NM_024753.5(TTC21B):c.2011G>C (p.Glu671Gln)
|
|
|
NM_024753.5(TTC21B):c.2015G>C (p.Arg672Pro)
|
rs756604135
|
|
NM_024753.5(TTC21B):c.2026A>G (p.Ile676Val)
|
rs2105324144
|
|
NM_024753.5(TTC21B):c.202G>T (p.Asp68Tyr)
|
rs1242719645
|
|
NM_024753.5(TTC21B):c.2047G>A (p.Glu683Lys)
|
|
|
NM_024753.5(TTC21B):c.205G>A (p.Val69Ile)
|
|
|
NM_024753.5(TTC21B):c.2074G>C (p.Glu692Gln)
|
rs1686122784
|
|
NM_024753.5(TTC21B):c.2095C>G (p.Leu699Val)
|
rs200182771
|
|
NM_024753.5(TTC21B):c.21+5_21+6insGGTGAGTG
|
|
|
NM_024753.5(TTC21B):c.21+9_21+10insGAGCGGGC
|
|
|
NM_024753.5(TTC21B):c.2101C>G (p.His701Asp)
|
|
|
NM_024753.5(TTC21B):c.2117T>G (p.Met706Arg)
|
rs2105323931
|
|
NM_024753.5(TTC21B):c.2118G>A (p.Met706Ile)
|
|
|
NM_024753.5(TTC21B):c.2128A>G (p.Thr710Ala)
|
rs1457311503
|
|
NM_024753.5(TTC21B):c.2135T>C (p.Phe712Ser)
|
|
|
NM_024753.5(TTC21B):c.2138+5G>C
|
rs1574099823
|
|
NM_024753.5(TTC21B):c.2156T>C (p.Met719Thr)
|
rs2105321275
|
|
NM_024753.5(TTC21B):c.2179C>T (p.Leu727Phe)
|
rs1214420591
|
|
NM_024753.5(TTC21B):c.2180T>C (p.Leu727Pro)
|
|
|
NM_024753.5(TTC21B):c.2197A>G (p.Met733Val)
|
|
|
NM_024753.5(TTC21B):c.2211G>A (p.Glu737=)
|
|
|
NM_024753.5(TTC21B):c.2233T>G (p.Tyr745Asp)
|
|
|
NM_024753.5(TTC21B):c.223C>T (p.Leu75Phe)
|
|
|
NM_024753.5(TTC21B):c.2251C>G (p.Gln751Glu)
|
|
|
NM_024753.5(TTC21B):c.2263G>T (p.Asp755Tyr)
|
|
|
NM_024753.5(TTC21B):c.2288G>A (p.Gly763Asp)
|
|
|
NM_024753.5(TTC21B):c.2309A>G (p.His770Arg)
|
|
|
NM_024753.5(TTC21B):c.2323-18G>A
|
|
|
NM_024753.5(TTC21B):c.2357G>T (p.Gly786Val)
|
|
|
NM_024753.5(TTC21B):c.2360A>C (p.Gln787Pro)
|
|
|
NM_024753.5(TTC21B):c.2368T>C (p.Tyr790His)
|
rs910370044
|
|
NM_024753.5(TTC21B):c.2393_2394delinsAA (p.Leu798Gln)
|
rs2105318301
|
|
NM_024753.5(TTC21B):c.2412G>T (p.Trp804Cys)
|
rs1685925745
|
|
NM_024753.5(TTC21B):c.2414A>G (p.Tyr805Cys)
|
|
|
NM_024753.5(TTC21B):c.242A>C (p.His81Pro)
|
rs1687690052
|
|
NM_024753.5(TTC21B):c.242A>G (p.His81Arg)
|
|
|
NM_024753.5(TTC21B):c.244A>C (p.Lys82Gln)
|
rs774744374
|
|
NM_024753.5(TTC21B):c.2471T>G (p.Leu824Arg)
|
|
|
NM_024753.5(TTC21B):c.2479C>G (p.Leu827Val)
|
|
|
NM_024753.5(TTC21B):c.2491G>A (p.Gly831Arg)
|
|
|
NM_024753.5(TTC21B):c.2497T>C (p.Cys833Arg)
|
rs1685788738
|
|
NM_024753.5(TTC21B):c.2564A>G (p.Gln855Arg)
|
rs2105313560
|
|
NM_024753.5(TTC21B):c.2568+6C>G
|
rs2105313543
|
|
NM_024753.5(TTC21B):c.2575G>A (p.Glu859Lys)
|
rs2105306427
|
|
NM_024753.5(TTC21B):c.258T>G (p.Asn86Lys)
|
rs2105370137
|
|
NM_024753.5(TTC21B):c.2590G>A (p.Val864Ile)
|
|
|
NM_024753.5(TTC21B):c.2599C>A (p.Arg867Ser)
|
|
|
NM_024753.5(TTC21B):c.259C>G (p.Pro87Ala)
|
|
|
NM_024753.5(TTC21B):c.262+4T>C
|
|
|
NM_024753.5(TTC21B):c.2627T>A (p.Val876Asp)
|
|
|
NM_024753.5(TTC21B):c.262G>C (p.Asp88His)
|
|
|
NM_024753.5(TTC21B):c.2671G>A (p.Ala891Thr)
|
|
|
NM_024753.5(TTC21B):c.2683G>C (p.Val895Leu)
|
|
|
NM_024753.5(TTC21B):c.2686G>T (p.Ala896Ser)
|
|
|
NM_024753.5(TTC21B):c.2687C>T (p.Ala896Val)
|
rs768486051
|
|
NM_024753.5(TTC21B):c.2698T>C (p.Tyr900His)
|
rs1336338964
|
|
NM_024753.5(TTC21B):c.2710A>G (p.Ile904Val)
|
|
|
NM_024753.5(TTC21B):c.2720A>G (p.Tyr907Cys)
|
|
|
NM_024753.5(TTC21B):c.2734G>A (p.Val912Ile)
|
rs756613993
|
|
NM_024753.5(TTC21B):c.2745_2750del (p.Glu915_Thr916del)
|
rs2105306008
|
|
NM_024753.5(TTC21B):c.2747C>G (p.Thr916Arg)
|
rs781416133
|
|
NM_024753.5(TTC21B):c.2760T>G (p.Ile920Met)
|
|
|
NM_024753.5(TTC21B):c.2777G>C (p.Arg926Pro)
|
rs747246700
|
|
NM_024753.5(TTC21B):c.2777_2791del (p.Arg926_Ala930del)
|
rs757389950
|
|
NM_024753.5(TTC21B):c.2788G>A (p.Ala930Thr)
|
rs1685493323
|
|
NM_024753.5(TTC21B):c.2814_2815delinsAA (p.Leu938_Arg939=)
|
rs2105303218
|
|
NM_024753.5(TTC21B):c.2854G>A (p.Glu952Lys)
|
|
|
NM_024753.5(TTC21B):c.2864C>T (p.Thr955Ile)
|
rs1443929851
|
|
NM_024753.5(TTC21B):c.2884A>T (p.Met962Leu)
|
rs1010771919
|
|
NM_024753.5(TTC21B):c.2886G>T (p.Met962Ile)
|
|
|
NM_024753.5(TTC21B):c.2920C>G (p.His974Asp)
|
rs1254330391
|
|
NM_024753.5(TTC21B):c.2921A>G (p.His974Arg)
|
rs1311327616
|
|
NM_024753.5(TTC21B):c.2959A>G (p.Met987Val)
|
rs889749746
|
|
NM_024753.5(TTC21B):c.2962A>G (p.Thr988Ala)
|
|
|
NM_024753.5(TTC21B):c.2975T>C (p.Leu992Ser)
|
rs995750441
|
|
NM_024753.5(TTC21B):c.2990G>A (p.Arg997Lys)
|
rs2105292122
|
|
NM_024753.5(TTC21B):c.2993G>T (p.Arg998Ile)
|
rs189561071
|
|
NM_024753.5(TTC21B):c.2994A>G (p.Arg998=)
|
rs2105292113
|
|
NM_024753.5(TTC21B):c.2995T>C (p.Cys999Arg)
|
|
|
NM_024753.5(TTC21B):c.2996G>T (p.Cys999Phe)
|
|
|
NM_024753.5(TTC21B):c.2999G>A (p.Gly1000Glu)
|
|
|
NM_024753.5(TTC21B):c.3007G>A (p.Glu1003Lys)
|
|
|
NM_024753.5(TTC21B):c.3011A>T (p.Asp1004Val)
|
|
|
NM_024753.5(TTC21B):c.3016C>G (p.Pro1006Ala)
|
|
|
NM_024753.5(TTC21B):c.301G>C (p.Glu101Gln)
|
|
|
NM_024753.5(TTC21B):c.3038A>C (p.Glu1013Ala)
|
|
|
NM_024753.5(TTC21B):c.3048C>G (p.Asn1016Lys)
|
rs1685165771
|
|
NM_024753.5(TTC21B):c.3077A>G (p.Gln1026Arg)
|
rs753645075
|
|
NM_024753.5(TTC21B):c.3101+4A>G
|
rs2105291943
|
|
NM_024753.5(TTC21B):c.3119A>G (p.Asn1040Ser)
|
rs2105291721
|
|
NM_024753.5(TTC21B):c.3121G>A (p.Asp1041Asn)
|
rs2105291718
|
|
NM_024753.5(TTC21B):c.3142A>G (p.Lys1048Glu)
|
|
|
NM_024753.5(TTC21B):c.3149G>A (p.Arg1050Gln)
|
rs144103331
|
|
NM_024753.5(TTC21B):c.3160G>A (p.Asp1054Asn)
|
|
|
NM_024753.5(TTC21B):c.3167G>A (p.Gly1056Asp)
|
|
|
NM_024753.5(TTC21B):c.3185A>C (p.Asn1062Thr)
|
rs1477708117
|
|
NM_024753.5(TTC21B):c.3191T>C (p.Ile1064Thr)
|
|
|
NM_024753.5(TTC21B):c.3195G>T (p.Glu1065Asp)
|
rs1574070858
|
|
NM_024753.5(TTC21B):c.3217G>A (p.Glu1073Lys)
|
|
|
NM_024753.5(TTC21B):c.3338C>T (p.Pro1113Leu)
|
|
|
NM_024753.5(TTC21B):c.3344C>A (p.Thr1115Asn)
|
rs1307274284
|
|
NM_024753.5(TTC21B):c.3350A>T (p.Gln1117Leu)
|
rs148631747
|
|
NM_024753.5(TTC21B):c.3368G>A (p.Arg1123His)
|
|
|
NM_024753.5(TTC21B):c.3370A>G (p.Ile1124Val)
|
|
|
NM_024753.5(TTC21B):c.3448G>A (p.Ala1150Thr)
|
|
|
NM_024753.5(TTC21B):c.3448GCA[1] (p.Ala1151del)
|
|
|
NM_024753.5(TTC21B):c.3451G>A (p.Ala1151Thr)
|
|
|
NM_024753.5(TTC21B):c.3459+5G>T
|
rs1380985852
|
|
NM_024753.5(TTC21B):c.3460-5del
|
|
|
NM_024753.5(TTC21B):c.3466C>T (p.His1156Tyr)
|
|
|
NM_024753.5(TTC21B):c.3467A>G (p.His1156Arg)
|
|
|
NM_024753.5(TTC21B):c.3475G>A (p.Ala1159Thr)
|
rs2105284735
|
|
NM_024753.5(TTC21B):c.347T>C (p.Leu116Ser)
|
|
|
NM_024753.5(TTC21B):c.3487A>G (p.Met1163Val)
|
|
|
NM_024753.5(TTC21B):c.3488T>A (p.Met1163Lys)
|
|
|
NM_024753.5(TTC21B):c.3490G>A (p.Ala1164Thr)
|
rs374018043
|
|
NM_024753.5(TTC21B):c.3505A>T (p.Ile1169Phe)
|
|
|
NM_024753.5(TTC21B):c.3523C>G (p.Arg1175Gly)
|
|
|
NM_024753.5(TTC21B):c.3536A>G (p.Gln1179Arg)
|
rs745900529
|
|
NM_024753.5(TTC21B):c.3539T>C (p.Leu1180Pro)
|
|
|
NM_024753.5(TTC21B):c.3551C>G (p.Ala1184Gly)
|
|
|
NM_024753.5(TTC21B):c.3562T>C (p.Trp1188Arg)
|
|
|
NM_024753.5(TTC21B):c.3589G>C (p.Glu1197Gln)
|
|
|
NM_024753.5(TTC21B):c.3614A>G (p.Asp1205Gly)
|
rs2105284491
|
|
NM_024753.5(TTC21B):c.3644T>C (p.Met1215Thr)
|
|
|
NM_024753.5(TTC21B):c.3665G>A (p.Arg1222Gln)
|
|
|
NM_024753.5(TTC21B):c.368G>T (p.Arg123Leu)
|
rs370484375
|
|
NM_024753.5(TTC21B):c.3697G>C (p.Ala1233Pro)
|
|
|
NM_024753.5(TTC21B):c.3723G>A (p.Met1241Ile)
|
rs2105281084
|
|
NM_024753.5(TTC21B):c.3740A>G (p.Tyr1247Cys)
|
|
|
NM_024753.5(TTC21B):c.3742A>T (p.Thr1248Ser)
|
rs1684808847
|
|
NM_024753.5(TTC21B):c.3767T>C (p.Met1256Thr)
|
rs2105281020
|
|
NM_024753.5(TTC21B):c.3770C>A (p.Ala1257Glu)
|
|
|
NM_024753.5(TTC21B):c.3782G>A (p.Ser1261Asn)
|
rs371730439
|
|
NM_024753.5(TTC21B):c.3782G>T (p.Ser1261Ile)
|
rs371730439
|
|
NM_024753.5(TTC21B):c.3802G>A (p.Val1268Ile)
|
|
|
NM_024753.5(TTC21B):c.3806-18T>C
|
|
|
NM_024753.5(TTC21B):c.3809A>G (p.Tyr1270Cys)
|
|
|
NM_024753.5(TTC21B):c.3843A>G (p.Arg1281=)
|
|
|
NM_024753.5(TTC21B):c.3857T>C (p.Ile1286Thr)
|
|
|
NM_024753.5(TTC21B):c.389A>C (p.Tyr130Ser)
|
|
|
NM_024753.5(TTC21B):c.3914A>T (p.Asp1305Val)
|
rs147540469
|
|
NM_024753.5(TTC21B):c.3932G>T (p.Arg1311Leu)
|
rs139327086
|
|
NM_024753.5(TTC21B):c.3935C>T (p.Ala1312Val)
|
|
|
NM_024753.5(TTC21B):c.3947C>T (p.Pro1316Leu)
|
rs2105274076
|
|
NM_024753.5(TTC21B):c.407A>G (p.Lys136Arg)
|
|
|
NM_024753.5(TTC21B):c.40T>C (p.Cys14Arg)
|
|
|
NM_024753.5(TTC21B):c.40T>G (p.Cys14Gly)
|
rs780354129
|
|
NM_024753.5(TTC21B):c.410T>C (p.Ile137Thr)
|
|
|
NM_024753.5(TTC21B):c.411A>G (p.Ile137Met)
|
|
|
NM_024753.5(TTC21B):c.422G>A (p.Ser141Asn)
|
|
|
NM_024753.5(TTC21B):c.429+5C>T
|
|
|
NM_024753.5(TTC21B):c.436G>A (p.Val146Ile)
|
rs373074238
|
|
NM_024753.5(TTC21B):c.455A>G (p.Asp152Gly)
|
rs145726127
|
|
NM_024753.5(TTC21B):c.484A>G (p.Lys162Glu)
|
|
|
NM_024753.5(TTC21B):c.497A>G (p.Lys166Arg)
|
|
|
NM_024753.5(TTC21B):c.49A>G (p.Arg17Gly)
|
|
|
NM_024753.5(TTC21B):c.52T>G (p.Tyr18Asp)
|
|
|
NM_024753.5(TTC21B):c.533C>G (p.Thr178Ser)
|
|
|
NM_024753.5(TTC21B):c.571C>T (p.Arg191Cys)
|
|
|
NM_024753.5(TTC21B):c.584C>T (p.Ser195Leu)
|
rs2105360604
|
|
NM_024753.5(TTC21B):c.58C>T (p.His20Tyr)
|
rs938432348
|
|
NM_024753.5(TTC21B):c.598A>G (p.Thr200Ala)
|
rs1387736357
|
|
NM_024753.5(TTC21B):c.61C>A (p.His21Asn)
|
|
|
NM_024753.5(TTC21B):c.65T>C (p.Val22Ala)
|
|
|
NM_024753.5(TTC21B):c.671C>T (p.Ala224Val)
|
|
|
NM_024753.5(TTC21B):c.737T>C (p.Val246Ala)
|
|
|
NM_024753.5(TTC21B):c.755A>G (p.Gln252Arg)
|
|
|
NM_024753.5(TTC21B):c.766T>G (p.Tyr256Asp)
|
|
|
NM_024753.5(TTC21B):c.770T>C (p.Val257Ala)
|
|
|
NM_024753.5(TTC21B):c.776G>C (p.Arg259Thr)
|
rs1347669823
|
|
NM_024753.5(TTC21B):c.779A>T (p.Glu260Val)
|
|
|
NM_024753.5(TTC21B):c.793A>C (p.Lys265Gln)
|
rs886055027
|
|
NM_024753.5(TTC21B):c.797C>T (p.Ala266Val)
|
rs562559211
|
|
NM_024753.5(TTC21B):c.820G>C (p.Gly274Arg)
|
rs2105347173
|
|
NM_024753.5(TTC21B):c.864C>A (p.Phe288Leu)
|
rs776784928
|
|
NM_024753.5(TTC21B):c.887G>A (p.Ser296Asn)
|
|
|
NM_024753.5(TTC21B):c.895-3T>C
|
|
|
NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys)
|
rs1437304335
|
|
NM_024753.5(TTC21B):c.902G>A (p.Arg301His)
|
|
|
NM_024753.5(TTC21B):c.932C>T (p.Thr311Met)
|
|
|
NM_024753.5(TTC21B):c.940G>A (p.Glu314Lys)
|
|
|
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val)
|
rs746459698
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NM_024790.6(CSPP1):c.-14_1del (p.Met1del)
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NM_024809.5(TCTN2):c.100A>C (p.Ile34Leu)
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NM_024809.5(TCTN2):c.1043C>T (p.Thr348Ile)
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NM_024809.5(TCTN2):c.1045C>G (p.Pro349Ala)
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rs2135843071
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NM_024809.5(TCTN2):c.1060G>C (p.Glu354Gln)
|
rs953263200
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NM_024809.5(TCTN2):c.1072G>A (p.Asp358Asn)
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NM_024809.5(TCTN2):c.1074C>G (p.Asp358Glu)
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NM_024809.5(TCTN2):c.1088T>C (p.Ile363Thr)
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NM_024809.5(TCTN2):c.1099+19_1099+20inv
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NM_024809.5(TCTN2):c.1099+6del
|
rs2135843158
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NM_024809.5(TCTN2):c.1123A>G (p.Thr375Ala)
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rs1256664879
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NM_024809.5(TCTN2):c.112G>T (p.Gly38Cys)
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rs1955751143
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NM_024809.5(TCTN2):c.1135G>T (p.Val379Leu)
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NM_024809.5(TCTN2):c.1154A>G (p.Tyr385Cys)
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NM_024809.5(TCTN2):c.1165T>C (p.Trp389Arg)
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rs200080239
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NM_024809.5(TCTN2):c.1165T>G (p.Trp389Gly)
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NM_024809.5(TCTN2):c.1173_1178del (p.Asn392_Thr393del)
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NM_024809.5(TCTN2):c.1190T>A (p.Ile397Lys)
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NM_024809.5(TCTN2):c.1208G>A (p.Arg403Lys)
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NM_024809.5(TCTN2):c.1264T>A (p.Phe422Ile)
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NM_024809.5(TCTN2):c.1286A>T (p.Asn429Ile)
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NM_024809.5(TCTN2):c.1288GAA[2] (p.Glu432del)
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NM_024809.5(TCTN2):c.1303G>A (p.Gly435Arg)
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NM_024809.5(TCTN2):c.1312+3A>G
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rs1381902683
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NM_024809.5(TCTN2):c.1366G>A (p.Val456Ile)
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NM_024809.5(TCTN2):c.1377A>C (p.Leu459Phe)
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NM_024809.5(TCTN2):c.1379A>C (p.His460Pro)
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NM_024809.5(TCTN2):c.1391C>T (p.Ser464Leu)
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rs991572501
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NM_024809.5(TCTN2):c.1394-10_1394-5del
|
rs754718630
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NM_024809.5(TCTN2):c.1403G>T (p.Gly468Val)
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rs1345786491
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NM_024809.5(TCTN2):c.1411A>C (p.Thr471Pro)
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rs2135849648
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NM_024809.5(TCTN2):c.1432A>G (p.Ile478Val)
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NM_024809.5(TCTN2):c.1447A>C (p.Asn483His)
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NM_024809.5(TCTN2):c.148G>A (p.Glu50Lys)
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rs959524376
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NM_024809.5(TCTN2):c.1499A>G (p.Gln500Arg)
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rs866607617
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NM_024809.5(TCTN2):c.1505+3G>A
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NM_024809.5(TCTN2):c.1509G>T (p.Glu503Asp)
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NM_024809.5(TCTN2):c.1528G>C (p.Asp510His)
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NM_024809.5(TCTN2):c.1538T>C (p.Ile513Thr)
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NM_024809.5(TCTN2):c.1576T>G (p.Tyr526Asp)
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rs2135852961
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NM_024809.5(TCTN2):c.1579G>A (p.Ala527Thr)
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rs760206821
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NM_024809.5(TCTN2):c.1579G>T (p.Ala527Ser)
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rs760206821
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NM_024809.5(TCTN2):c.1655G>A (p.Ser552Asn)
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NM_024809.5(TCTN2):c.1685C>T (p.Ala562Val)
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rs2135859426
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NM_024809.5(TCTN2):c.1687C>T (p.His563Tyr)
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NM_024809.5(TCTN2):c.1704C>G (p.Ile568Met)
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NM_024809.5(TCTN2):c.1705C>G (p.Leu569Val)
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NM_024809.5(TCTN2):c.170C>T (p.Ala57Val)
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NM_024809.5(TCTN2):c.1726G>C (p.Val576Leu)
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NM_024809.5(TCTN2):c.1781T>C (p.Val594Ala)
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NM_024809.5(TCTN2):c.1791G>T (p.Gln597His)
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NM_024809.5(TCTN2):c.1810T>C (p.Cys604Arg)
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NM_024809.5(TCTN2):c.1812T>G (p.Cys604Trp)
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rs1593871306
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NM_024809.5(TCTN2):c.1847C>A (p.Ser616Tyr)
|
rs1436566157
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NM_024809.5(TCTN2):c.1882C>T (p.His628Tyr)
|
rs2135862503
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NM_024809.5(TCTN2):c.188C>G (p.Ala63Gly)
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NM_024809.5(TCTN2):c.1892C>T (p.Thr631Ile)
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NM_024809.5(TCTN2):c.1896-16_1896-15insACTTGTAGTTTTTG
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NM_024809.5(TCTN2):c.1904T>G (p.Ile635Ser)
|
rs2135862767
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NM_024809.5(TCTN2):c.1910A>T (p.Tyr637Phe)
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NM_024809.5(TCTN2):c.1928A>G (p.Asn643Ser)
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NM_024809.5(TCTN2):c.1943_1944del (p.Cys648fs)
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rs2135862848
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NM_024809.5(TCTN2):c.1948C>T (p.Pro650Ser)
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NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu)
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rs1393954437
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NM_024809.5(TCTN2):c.1958T>C (p.Leu653Pro)
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NM_024809.5(TCTN2):c.1958_1963del (p.Leu653_Tyr654del)
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rs377628976
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NM_024809.5(TCTN2):c.1987G>C (p.Glu663Gln)
|
rs756940400
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NM_024809.5(TCTN2):c.2001G>C (p.Gln667His)
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NM_024809.5(TCTN2):c.2005G>A (p.Val669Ile)
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rs768699111
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NM_024809.5(TCTN2):c.200C>G (p.Pro67Arg)
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NM_024809.5(TCTN2):c.200C>T (p.Pro67Leu)
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rs772417842
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NM_024809.5(TCTN2):c.2029T>G (p.Leu677Val)
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NM_024809.5(TCTN2):c.2047T>G (p.Leu683Val)
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NM_024809.5(TCTN2):c.2049G>T (p.Leu683Phe)
|
rs975324103
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NM_024809.5(TCTN2):c.206C>T (p.Pro69Leu)
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NM_024809.5(TCTN2):c.217G>C (p.Val73Leu)
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rs1955760079
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NM_024809.5(TCTN2):c.225_226delinsTC (p.Asn76His)
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NM_024809.5(TCTN2):c.22G>A (p.Ala8Thr)
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NM_024809.5(TCTN2):c.233C>G (p.Thr78Arg)
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rs1015790415
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NM_024809.5(TCTN2):c.235G>A (p.Glu79Lys)
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NM_024809.5(TCTN2):c.239A>C (p.Asp80Ala)
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NM_024809.5(TCTN2):c.25C>T (p.Leu9Phe)
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NM_024809.5(TCTN2):c.267G>T (p.Ala89=)
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NM_024809.5(TCTN2):c.269A>G (p.Lys90Arg)
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rs879080073
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NM_024809.5(TCTN2):c.275_276insCAC (p.Leu92delinsPheThr)
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NM_024809.5(TCTN2):c.317C>G (p.Ser106Cys)
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NM_024809.5(TCTN2):c.347C>A (p.Ser116Tyr)
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NM_024809.5(TCTN2):c.350C>T (p.Pro117Leu)
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NM_024809.5(TCTN2):c.352T>G (p.Cys118Gly)
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rs2135816491
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NM_024809.5(TCTN2):c.374T>G (p.Val125Gly)
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NM_024809.5(TCTN2):c.458C>T (p.Ala153Val)
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NM_024809.5(TCTN2):c.464-8C>G
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NM_024809.5(TCTN2):c.481C>T (p.Pro161Ser)
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NM_024809.5(TCTN2):c.485A>G (p.Asn162Ser)
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NM_024809.5(TCTN2):c.512G>A (p.Cys171Tyr)
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rs1247122928
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NM_024809.5(TCTN2):c.521A>G (p.Asn174Ser)
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NM_024809.5(TCTN2):c.526A>G (p.Thr176Ala)
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NM_024809.5(TCTN2):c.529G>A (p.Ala177Thr)
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NM_024809.5(TCTN2):c.545T>C (p.Val182Ala)
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NM_024809.5(TCTN2):c.547C>T (p.Arg183Cys)
|
rs774520912
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NM_024809.5(TCTN2):c.577A>G (p.Asn193Asp)
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NM_024809.5(TCTN2):c.580T>G (p.Leu194Val)
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NM_024809.5(TCTN2):c.587C>T (p.Thr196Met)
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NM_024809.5(TCTN2):c.590T>C (p.Leu197Pro)
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NM_024809.5(TCTN2):c.649C>G (p.Gln217Glu)
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NM_024809.5(TCTN2):c.671C>T (p.Thr224Met)
|
rs376996387
|
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NM_024809.5(TCTN2):c.673A>T (p.Thr225Ser)
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NM_024809.5(TCTN2):c.697C>T (p.Pro233Ser)
|
rs1156772105
|
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NM_024809.5(TCTN2):c.716C>A (p.Ser239Tyr)
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|
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NM_024809.5(TCTN2):c.716C>G (p.Ser239Cys)
|
rs149186771
|
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NM_024809.5(TCTN2):c.716C>T (p.Ser239Phe)
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NM_024809.5(TCTN2):c.738C>G (p.Phe246Leu)
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NM_024809.5(TCTN2):c.758G>T (p.Gly253Val)
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rs1955979058
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NM_024809.5(TCTN2):c.761C>T (p.Ala254Val)
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|
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NM_024809.5(TCTN2):c.764+9C>G
|
rs1955979503
|
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NM_024809.5(TCTN2):c.765-11T>C
|
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NM_024809.5(TCTN2):c.797A>T (p.Tyr266Phe)
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NM_024809.5(TCTN2):c.7T>C (p.Phe3Leu)
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NM_024809.5(TCTN2):c.802G>T (p.Asp268Tyr)
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NM_024809.5(TCTN2):c.806C>G (p.Thr269Ser)
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NM_024809.5(TCTN2):c.811G>A (p.Ala271Thr)
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NM_024809.5(TCTN2):c.830T>C (p.Phe277Ser)
|
rs1566252816
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NM_024809.5(TCTN2):c.848A>T (p.Asp283Val)
|
rs2135836324
|
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NM_024809.5(TCTN2):c.858G>T (p.Met286Ile)
|
rs371804063
|
|
NM_024809.5(TCTN2):c.877T>A (p.Phe293Ile)
|
rs201322440
|
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NM_024809.5(TCTN2):c.891+5T>G
|
rs2135836443
|
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NM_024809.5(TCTN2):c.891+6C>T
|
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NM_024809.5(TCTN2):c.892G>A (p.Val298Met)
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NM_024809.5(TCTN2):c.902C>T (p.Ala301Val)
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NM_024809.5(TCTN2):c.922G>A (p.Ala308Thr)
|
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NM_024809.5(TCTN2):c.92C>G (p.Pro31Arg)
|
rs1009530513
|
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NM_024809.5(TCTN2):c.92C>T (p.Pro31Leu)
|
rs1009530513
|
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NM_024809.5(TCTN2):c.94C>T (p.Pro32Ser)
|
rs2135813593
|
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NM_024809.5(TCTN2):c.961G>A (p.Val321Ile)
|
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NM_024809.5(TCTN2):c.965C>T (p.Thr322Ile)
|
rs2135839958
|
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NM_024809.5(TCTN2):c.97T>C (p.Phe33Leu)
|
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NM_025114.3(CEP290):c.6819-?_*171+?dup
|
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NM_025114.4(CEP290):c.1004G>A (p.Arg335Lys)
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NM_025114.4(CEP290):c.100A>C (p.Lys34Gln)
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NM_025114.4(CEP290):c.1025A>G (p.Gln342Arg)
|
rs2138022289
|
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NM_025114.4(CEP290):c.1052T>C (p.Met351Thr)
|
rs1415965131
|
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NM_025114.4(CEP290):c.1054G>T (p.Ala352Ser)
|
|
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NM_025114.4(CEP290):c.1067G>A (p.Gly356Asp)
|
rs1403887401
|
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NM_025114.4(CEP290):c.1069A>C (p.Ile357Leu)
|
rs2138003595
|
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NM_025114.4(CEP290):c.1069A>G (p.Ile357Val)
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NM_025114.4(CEP290):c.1082A>G (p.Asp361Gly)
|
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NM_025114.4(CEP290):c.1083C>A (p.Asp361Glu)
|
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NM_025114.4(CEP290):c.1103C>T (p.Thr368Ile)
|
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NM_025114.4(CEP290):c.1108C>G (p.Gln370Glu)
|
rs2039663676
|
|
NM_025114.4(CEP290):c.1111G>A (p.Val371Ile)
|
rs2138002338
|
|
NM_025114.4(CEP290):c.1117C>A (p.Gln373Lys)
|
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NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)
|
rs1295338042
|
|
NM_025114.4(CEP290):c.1166A>T (p.Lys389Ile)
|
rs2138000943
|
|
NM_025114.4(CEP290):c.1172A>G (p.Glu391Gly)
|
|
|
NM_025114.4(CEP290):c.1190-8C>G
|
rs764602507
|
|
NM_025114.4(CEP290):c.1195T>G (p.Ser399Ala)
|
|
|
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile)
|
rs773578133
|
|
NM_025114.4(CEP290):c.1205C>G (p.Ser402Cys)
|
rs2137920983
|
|
NM_025114.4(CEP290):c.1217_1218delinsTC (p.His406Leu)
|
rs2137920625
|
|
NM_025114.4(CEP290):c.1229A>G (p.Gln410Arg)
|
|
|
NM_025114.4(CEP290):c.1240G>A (p.Asp414Asn)
|
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NM_025114.4(CEP290):c.1268C>A (p.Ala423Asp)
|
|
|
NM_025114.4(CEP290):c.1280C>T (p.Ala427Val)
|
rs2039369004
|
|
NM_025114.4(CEP290):c.1297G>A (p.Asp433Asn)
|
|
|
NM_025114.4(CEP290):c.1306G>A (p.Glu436Lys)
|
|
|
NM_025114.4(CEP290):c.1307A>G (p.Glu436Gly)
|
rs2039366661
|
|
NM_025114.4(CEP290):c.1313A>G (p.Asp438Gly)
|
rs2137917175
|
|
NM_025114.4(CEP290):c.1325T>A (p.Val442Asp)
|
|
|
NM_025114.4(CEP290):c.1358C>T (p.Ser453Leu)
|
rs772635605
|
|
NM_025114.4(CEP290):c.1359+2dup
|
|
|
NM_025114.4(CEP290):c.135A>C (p.Gln45His)
|
rs2138298764
|
|
NM_025114.4(CEP290):c.1390G>C (p.Glu464Gln)
|
rs1437841365
|
|
NM_025114.4(CEP290):c.13A>T (p.Ile5Leu)
|
|
|
NM_025114.4(CEP290):c.1403G>A (p.Cys468Tyr)
|
|
|
NM_025114.4(CEP290):c.1405A>G (p.Lys469Glu)
|
|
|
NM_025114.4(CEP290):c.1436T>C (p.Ile479Thr)
|
|
|
NM_025114.4(CEP290):c.1471T>A (p.Leu491Met)
|
|
|
NM_025114.4(CEP290):c.147A>G (p.Ile49Met)
|
|
|
NM_025114.4(CEP290):c.1493A>T (p.Asp498Val)
|
rs2039315374
|
|
NM_025114.4(CEP290):c.149A>G (p.His50Arg)
|
rs2138298302
|
|
NM_025114.4(CEP290):c.1504G>A (p.Ala502Thr)
|
rs1035966537
|
|
NM_025114.4(CEP290):c.1508T>G (p.Leu503Arg)
|
rs761301690
|
|
NM_025114.4(CEP290):c.151C>T (p.Leu51Phe)
|
rs1264332374
|
|
NM_025114.4(CEP290):c.1523G>A (p.Gly508Asp)
|
rs2039227577
|
|
NM_025114.4(CEP290):c.1564A>C (p.Asn522His)
|
|
|
NM_025114.4(CEP290):c.1565A>G (p.Asn522Ser)
|
rs751732097
|
|
NM_025114.4(CEP290):c.1589A>G (p.Gln530Arg)
|
rs1390141039
|
|
NM_025114.4(CEP290):c.1590G>C (p.Gln530His)
|
rs766779533
|
|
NM_025114.4(CEP290):c.1596A>C (p.Arg532Ser)
|
rs770310236
|
|
NM_025114.4(CEP290):c.1597G>T (p.Ala533Ser)
|
|
|
NM_025114.4(CEP290):c.1600G>A (p.Glu534Lys)
|
|
|
NM_025114.4(CEP290):c.1615T>G (p.Leu539Val)
|
rs2137873551
|
|
NM_025114.4(CEP290):c.1625T>C (p.Ile542Thr)
|
rs1180698614
|
|
NM_025114.4(CEP290):c.1636G>C (p.Glu546Gln)
|
rs373498346
|
|
NM_025114.4(CEP290):c.1644A>C (p.Glu548Asp)
|
|
|
NM_025114.4(CEP290):c.1646G>T (p.Arg549Leu)
|
|
|
NM_025114.4(CEP290):c.1648C>T (p.Leu550Phe)
|
rs2039207431
|
|
NM_025114.4(CEP290):c.1654C>A (p.Leu552Met)
|
|
|
NM_025114.4(CEP290):c.1664A>T (p.Lys555Ile)
|
|
|
NM_025114.4(CEP290):c.1672C>G (p.Gln558Glu)
|
|
|
NM_025114.4(CEP290):c.1710A>C (p.Ser570=)
|
rs2137866803
|
|
NM_025114.4(CEP290):c.1721C>G (p.Thr574Ser)
|
|
|
NM_025114.4(CEP290):c.1741G>A (p.Glu581Lys)
|
rs2039101381
|
|
NM_025114.4(CEP290):c.1757G>A (p.Gly586Glu)
|
|
|
NM_025114.4(CEP290):c.1767A>G (p.Ile589Met)
|
|
|
NM_025114.4(CEP290):c.1769G>C (p.Ser590Thr)
|
|
|
NM_025114.4(CEP290):c.1781T>C (p.Leu594Ser)
|
rs371496675
|
|
NM_025114.4(CEP290):c.1782G>T (p.Leu594Phe)
|
rs1283118657
|
|
NM_025114.4(CEP290):c.180+11A>G
|
rs2138296866
|
|
NM_025114.4(CEP290):c.1801A>G (p.Asn601Asp)
|
|
|
NM_025114.4(CEP290):c.1862G>C (p.Arg621Thr)
|
|
|
NM_025114.4(CEP290):c.188C>T (p.Ala63Val)
|
rs769705891
|
|
NM_025114.4(CEP290):c.1908A>G (p.Lys636=)
|
|
|
NM_025114.4(CEP290):c.191AAG[1] (p.Glu65del)
|
rs1312256490
|
|
NM_025114.4(CEP290):c.1921G>C (p.Val641Leu)
|
rs886049883
|
|
NM_025114.4(CEP290):c.1926A>T (p.Glu642Asp)
|
|
|
NM_025114.4(CEP290):c.1970C>A (p.Ala657Glu)
|
rs2038920051
|
|
NM_025114.4(CEP290):c.1972A>G (p.Ile658Val)
|
rs2038919900
|
|
NM_025114.4(CEP290):c.1982T>G (p.Met661Arg)
|
rs2137781691
|
|
NM_025114.4(CEP290):c.1987A>G (p.Lys663Glu)
|
|
|
NM_025114.4(CEP290):c.2033G>T (p.Ser678Ile)
|
rs2038915965
|
|
NM_025114.4(CEP290):c.2053G>A (p.Ala685Thr)
|
rs2038714969
|
|
NM_025114.4(CEP290):c.2058A>G (p.Ile686Met)
|
|
|
NM_025114.4(CEP290):c.2090C>T (p.Ala697Val)
|
rs200454865
|
|
NM_025114.4(CEP290):c.2092A>C (p.Ser698Arg)
|
|
|
NM_025114.4(CEP290):c.2099A>G (p.His700Arg)
|
|
|
NM_025114.4(CEP290):c.2128G>A (p.Gly710Arg)
|
|
|
NM_025114.4(CEP290):c.2132G>C (p.Arg711Thr)
|
|
|
NM_025114.4(CEP290):c.216A>T (p.Glu72Asp)
|
|
|
NM_025114.4(CEP290):c.2173G>A (p.Glu725Lys)
|
|
|
NM_025114.4(CEP290):c.2177C>T (p.Ala726Val)
|
rs1592608053
|
|
NM_025114.4(CEP290):c.2179A>G (p.Ile727Val)
|
|
|
NM_025114.4(CEP290):c.2180T>C (p.Ile727Thr)
|
rs2137721924
|
|
NM_025114.4(CEP290):c.2186A>T (p.Tyr729Phe)
|
|
|
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys)
|
rs767250881
|
|
NM_025114.4(CEP290):c.2217+3G>A
|
rs765291878
|
|
NM_025114.4(CEP290):c.2217+3G>C
|
rs765291878
|
|
NM_025114.4(CEP290):c.2217+5G>T
|
|
|
NM_025114.4(CEP290):c.2218A>T (p.Ile740Leu)
|
rs754736974
|
|
NM_025114.4(CEP290):c.2227C>T (p.Leu743Phe)
|
|
|
NM_025114.4(CEP290):c.2233A>G (p.Lys745Glu)
|
rs1193394531
|
|
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe)
|
rs2038674474
|
|
NM_025114.4(CEP290):c.2252G>A (p.Arg751Gln)
|
rs1360220092
|
|
NM_025114.4(CEP290):c.2267_2268inv (p.Ser756Leu)
|
|
|
NM_025114.4(CEP290):c.2276T>G (p.Val759Gly)
|
rs2038671061
|
|
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser)
|
rs1488946278
|
|
NM_025114.4(CEP290):c.2296C>A (p.Pro766Thr)
|
|
|
NM_025114.4(CEP290):c.2315C>A (p.Ser772Tyr)
|
rs2137709342
|
|
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys)
|
rs748976722
|
|
NM_025114.4(CEP290):c.2321C>G (p.Ala774Gly)
|
|
|
NM_025114.4(CEP290):c.2332_2334del (p.Asn778del)
|
rs2038666741
|
|
NM_025114.4(CEP290):c.2365C>A (p.Gln789Lys)
|
rs2137707386
|
|
NM_025114.4(CEP290):c.2379_2381del (p.Asn793del)
|
rs2038499476
|
|
NM_025114.4(CEP290):c.2427C>G (p.Asn809Lys)
|
|
|
NM_025114.4(CEP290):c.2435T>A (p.Phe812Tyr)
|
rs2038494496
|
|
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu)
|
rs955251811
|
|
NM_025114.4(CEP290):c.2447G>C (p.Arg816Pro)
|
rs768448895
|
|
NM_025114.4(CEP290):c.2447G>T (p.Arg816Leu)
|
rs768448895
|
|
NM_025114.4(CEP290):c.2450A>G (p.His817Arg)
|
rs1251392498
|
|
NM_025114.4(CEP290):c.2451T>A (p.His817Gln)
|
rs2038492778
|
|
NM_025114.4(CEP290):c.2455C>A (p.Gln819Lys)
|
rs2137662565
|
|
NM_025114.4(CEP290):c.2459G>A (p.Ser820Asn)
|
|
|
NM_025114.4(CEP290):c.2468A>G (p.Tyr823Cys)
|
rs2137662247
|
|
NM_025114.4(CEP290):c.246A>C (p.Lys82Asn)
|
|
|
NM_025114.4(CEP290):c.2482A>T (p.Ser828Cys)
|
|
|
NM_025114.4(CEP290):c.2483+5A>G
|
rs2137661741
|
|
NM_025114.4(CEP290):c.249T>C (p.Phe83=)
|
|
|
NM_025114.4(CEP290):c.2515A>G (p.Thr839Ala)
|
rs1227513489
|
|
NM_025114.4(CEP290):c.2518A>T (p.Ile840Leu)
|
|
|
NM_025114.4(CEP290):c.2526G>T (p.Glu842Asp)
|
|
|
NM_025114.4(CEP290):c.2536A>G (p.Lys846Glu)
|
rs2137623175
|
|
NM_025114.4(CEP290):c.2545G>C (p.Asp849His)
|
rs1565877637
|
|
NM_025114.4(CEP290):c.2566A>G (p.Ile856Val)
|
|
|
NM_025114.4(CEP290):c.256C>A (p.Gln86Lys)
|
rs1004064531
|
|
NM_025114.4(CEP290):c.2597A>G (p.Asn866Ser)
|
|
|
NM_025114.4(CEP290):c.2600C>T (p.Ala867Val)
|
rs2038321746
|
|
NM_025114.4(CEP290):c.2602C>T (p.Leu868Phe)
|
|
|
NM_025114.4(CEP290):c.2608A>G (p.Met870Val)
|
|
|
NM_025114.4(CEP290):c.2618A>T (p.Asp873Val)
|
|
|
NM_025114.4(CEP290):c.2621A>T (p.Glu874Val)
|
|
|
NM_025114.4(CEP290):c.2623A>G (p.Met875Val)
|
|
|
NM_025114.4(CEP290):c.2646TAG[1] (p.Ser883del)
|
|
|
NM_025114.4(CEP290):c.2681A>T (p.Lys894Ile)
|
rs2137616560
|
|
NM_025114.4(CEP290):c.2694G>C (p.Arg898Ser)
|
rs2038314186
|
|
NM_025114.4(CEP290):c.2704A>T (p.Thr902Ser)
|
rs1353471879
|
|
NM_025114.4(CEP290):c.2713G>A (p.Glu905Lys)
|
|
|
NM_025114.4(CEP290):c.2723G>A (p.Arg908Gln)
|
|
|
NM_025114.4(CEP290):c.2728C>T (p.Leu910Phe)
|
rs375348494
|
|
NM_025114.4(CEP290):c.2750A>C (p.Gln917Pro)
|
|
|
NM_025114.4(CEP290):c.2776G>C (p.Ala926Pro)
|
|
|
NM_025114.4(CEP290):c.2781A>G (p.Glu927=)
|
rs2137612847
|
|
NM_025114.4(CEP290):c.2782G>C (p.Val928Leu)
|
|
|
NM_025114.4(CEP290):c.2785T>A (p.Cys929Ser)
|
rs770836483
|
|
NM_025114.4(CEP290):c.2813T>C (p.Phe938Ser)
|
|
|
NM_025114.4(CEP290):c.2821A>G (p.Met941Val)
|
rs2038012227
|
|
NM_025114.4(CEP290):c.2864A>G (p.Asn955Ser)
|
rs1443848622
|
|
NM_025114.4(CEP290):c.2884C>A (p.Leu962Ile)
|
|
|
NM_025114.4(CEP290):c.2901A>T (p.Lys967Asn)
|
|
|
NM_025114.4(CEP290):c.2911G>A (p.Glu971Lys)
|
rs780805963
|
|
NM_025114.4(CEP290):c.291A>T (p.Glu97Asp)
|
rs757402765
|
|
NM_025114.4(CEP290):c.2927A>G (p.Tyr976Cys)
|
rs1039332206
|
|
NM_025114.4(CEP290):c.2929A>G (p.Arg977Gly)
|
rs765840717
|
|
NM_025114.4(CEP290):c.2932G>T (p.Asp978Tyr)
|
rs2137541060
|
|
NM_025114.4(CEP290):c.2933A>G (p.Asp978Gly)
|
rs758309007
|
|
NM_025114.4(CEP290):c.2951A>T (p.Asn984Ile)
|
rs2037998907
|
|
NM_025114.4(CEP290):c.2953A>G (p.Met985Val)
|
rs1160930595
|
|
NM_025114.4(CEP290):c.2955G>A (p.Met985Ile)
|
rs2037998320
|
|
NM_025114.4(CEP290):c.2975A>G (p.Asn992Ser)
|
rs2137539633
|
|
NM_025114.4(CEP290):c.2983C>T (p.His995Tyr)
|
rs2137539514
|
|
NM_025114.4(CEP290):c.2991+3A>C
|
|
|
NM_025114.4(CEP290):c.2992T>G (p.Cys998Gly)
|
rs2037480137
|
|
NM_025114.4(CEP290):c.3013G>C (p.Glu1005Gln)
|
rs2037478393
|
|
NM_025114.4(CEP290):c.3014A>G (p.Glu1005Gly)
|
|
|
NM_025114.4(CEP290):c.3019G>A (p.Val1007Met)
|
rs2137425726
|
|
NM_025114.4(CEP290):c.3020T>C (p.Val1007Ala)
|
rs898733071
|
|
NM_025114.4(CEP290):c.3037G>A (p.Glu1013Lys)
|
|
|
NM_025114.4(CEP290):c.305A>G (p.Gln102Arg)
|
|
|
NM_025114.4(CEP290):c.3070A>G (p.Ile1024Val)
|
|
|
NM_025114.4(CEP290):c.3082T>G (p.Trp1028Gly)
|
rs2037472723
|
|
NM_025114.4(CEP290):c.3103G>T (p.Gly1035Cys)
|
rs1195864585
|
|
NM_025114.4(CEP290):c.3104-5T>A
|
rs1302558061
|
|
NM_025114.4(CEP290):c.3111A>T (p.Glu1037Asp)
|
|
|
NM_025114.4(CEP290):c.3115A>C (p.Ser1039Arg)
|
rs2037241839
|
|
NM_025114.4(CEP290):c.3116G>A (p.Ser1039Asn)
|
|
|
NM_025114.4(CEP290):c.3121G>A (p.Asp1041Asn)
|
|
|
NM_025114.4(CEP290):c.3130A>G (p.Lys1044Glu)
|
|
|
NM_025114.4(CEP290):c.3132G>T (p.Lys1044Asn)
|
rs762342726
|
|
NM_025114.4(CEP290):c.3139A>G (p.Ile1047Val)
|
rs2137368973
|
|
NM_025114.4(CEP290):c.3148A>C (p.Ser1050Arg)
|
rs1240996430
|
|
NM_025114.4(CEP290):c.3161C>T (p.Ser1054Phe)
|
|
|
NM_025114.4(CEP290):c.3162_3167del (p.Ile1055_Ser1056del)
|
rs760503950
|
|
NM_025114.4(CEP290):c.3175A>C (p.Ile1059Leu)
|
|
|
NM_025114.4(CEP290):c.3175A>G (p.Ile1059Val)
|
rs771815959
|
|
NM_025114.4(CEP290):c.3181A>G (p.Met1061Val)
|
rs1201486566
|
|
NM_025114.4(CEP290):c.3198A>T (p.Glu1066Asp)
|
|
|
NM_025114.4(CEP290):c.3214C>T (p.Arg1072Trp)
|
|
|
NM_025114.4(CEP290):c.3215G>A (p.Arg1072Gln)
|
rs1298561837
|
|
NM_025114.4(CEP290):c.3235A>C (p.Met1079Leu)
|
|
|
NM_025114.4(CEP290):c.3239A>G (p.Tyr1080Cys)
|
rs902039539
|
|
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly)
|
rs372918770
|
|
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp)
|
rs372918770
|
|
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
|
|
|
NM_025114.4(CEP290):c.3253A>G (p.Thr1085Ala)
|
|
|
NM_025114.4(CEP290):c.3278G>C (p.Arg1093Pro)
|
rs1049569883
|
|
NM_025114.4(CEP290):c.328A>G (p.Thr110Ala)
|
rs750018041
|
|
NM_025114.4(CEP290):c.3291G>A (p.Leu1097=)
|
rs2037221962
|
|
NM_025114.4(CEP290):c.3304G>A (p.Ala1102Thr)
|
|
|
NM_025114.4(CEP290):c.3313A>C (p.Thr1105Pro)
|
rs772886007
|
|
NM_025114.4(CEP290):c.3338A>C (p.Lys1113Thr)
|
rs780796789
|
|
NM_025114.4(CEP290):c.3351G>A (p.Met1117Ile)
|
rs2037147645
|
|
NM_025114.4(CEP290):c.3352T>G (p.Leu1118Val)
|
|
|
NM_025114.4(CEP290):c.3359A>G (p.Asp1120Gly)
|
|
|
NM_025114.4(CEP290):c.3375T>A (p.Ser1125Arg)
|
|
|
NM_025114.4(CEP290):c.3380G>A (p.Ser1127Asn)
|
rs757526726
|
|
NM_025114.4(CEP290):c.3398C>T (p.Ala1133Val)
|
|
|
NM_025114.4(CEP290):c.3418G>A (p.Glu1140Lys)
|
rs766095901
|
|
NM_025114.4(CEP290):c.3418G>C (p.Glu1140Gln)
|
|
|
NM_025114.4(CEP290):c.3431A>G (p.Asn1144Ser)
|
rs2137341520
|
|
NM_025114.4(CEP290):c.3432_3434dup (p.Asn1144_Glu1145insAsp)
|
rs2137341409
|
|
NM_025114.4(CEP290):c.3448G>A (p.Val1150Ile)
|
rs2137340972
|
|
NM_025114.4(CEP290):c.3449T>C (p.Val1150Ala)
|
rs2037141100
|
|
NM_025114.4(CEP290):c.345T>A (p.Asn115Lys)
|
|
|
NM_025114.4(CEP290):c.3460A>G (p.Lys1154Glu)
|
rs753136596
|
|
NM_025114.4(CEP290):c.3461A>C (p.Lys1154Thr)
|
rs1050202680
|
|
NM_025114.4(CEP290):c.3481A>T (p.Ile1161Phe)
|
rs2036979298
|
|
NM_025114.4(CEP290):c.3482T>C (p.Ile1161Thr)
|
|
|
NM_025114.4(CEP290):c.3497T>G (p.Val1166Gly)
|
|
|
NM_025114.4(CEP290):c.3499G>C (p.Glu1167Gln)
|
|
|
NM_025114.4(CEP290):c.3512C>G (p.Ala1171Gly)
|
rs1183095802
|
|
NM_025114.4(CEP290):c.3514CAA[2] (p.Gln1174del)
|
rs749010290
|
|
NM_025114.4(CEP290):c.3517C>A (p.Gln1173Lys)
|
|
|
NM_025114.4(CEP290):c.3533A>G (p.Lys1178Arg)
|
rs2137303115
|
|
NM_025114.4(CEP290):c.3539T>C (p.Val1180Ala)
|
|
|
NM_025114.4(CEP290):c.3542A>G (p.Glu1181Gly)
|
rs1402260550
|
|
NM_025114.4(CEP290):c.3545C>A (p.Ser1182Tyr)
|
|
|
NM_025114.4(CEP290):c.3553A>G (p.Met1185Val)
|
|
|
NM_025114.4(CEP290):c.3558A>C (p.Gln1186His)
|
rs1189042096
|
|
NM_025114.4(CEP290):c.3572A>G (p.Gln1191Arg)
|
|
|
NM_025114.4(CEP290):c.3573+5G>A
|
rs974204266
|
|
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg)
|
rs375065584
|
|
NM_025114.4(CEP290):c.3617A>G (p.His1206Arg)
|
|
|
NM_025114.4(CEP290):c.362A>C (p.Glu121Ala)
|
rs2040372439
|
|
NM_025114.4(CEP290):c.362A>G (p.Glu121Gly)
|
rs2040372439
|
|
NM_025114.4(CEP290):c.3638G>C (p.Ser1213Thr)
|
|
|
NM_025114.4(CEP290):c.3643G>A (p.Ala1215Thr)
|
|
|
NM_025114.4(CEP290):c.3650C>T (p.Ala1217Val)
|
|
|
NM_025114.4(CEP290):c.3677C>T (p.Ser1226Phe)
|
|
|
NM_025114.4(CEP290):c.3682C>G (p.Leu1228Val)
|
rs1282211647
|
|
NM_025114.4(CEP290):c.3693G>T (p.Met1231Ile)
|
|
|
NM_025114.4(CEP290):c.3697G>A (p.Ala1233Thr)
|
|
|
NM_025114.4(CEP290):c.3704A>G (p.Asn1235Ser)
|
rs1344828907
|
|
NM_025114.4(CEP290):c.3710G>T (p.Arg1237Leu)
|
rs7307793
|
|
NM_025114.4(CEP290):c.3722A>G (p.Lys1241Arg)
|
|
|
NM_025114.4(CEP290):c.3733_3735del (p.Lys1245del)
|
rs2137277006
|
|
NM_025114.4(CEP290):c.373G>A (p.Glu125Lys)
|
|
|
NM_025114.4(CEP290):c.3745C>T (p.Leu1249Phe)
|
|
|
NM_025114.4(CEP290):c.376C>A (p.Gln126Lys)
|
|
|
NM_025114.4(CEP290):c.377A>T (p.Gln126Leu)
|
rs748429036
|
|
NM_025114.4(CEP290):c.3785A>T (p.His1262Leu)
|
|
|
NM_025114.4(CEP290):c.379A>C (p.Lys127Gln)
|
rs781101346
|
|
NM_025114.4(CEP290):c.3815G>A (p.Arg1272Gln)
|
|
|
NM_025114.4(CEP290):c.3818A>G (p.Gln1273Arg)
|
|
|
NM_025114.4(CEP290):c.3823A>G (p.Ser1275Gly)
|
|
|
NM_025114.4(CEP290):c.3829_3830delinsCT (p.Ala1277Leu)
|
rs1565845877
|
|
NM_025114.4(CEP290):c.382G>C (p.Asp128His)
|
|
|
NM_025114.4(CEP290):c.382G>T (p.Asp128Tyr)
|
rs755112866
|
|
NM_025114.4(CEP290):c.3830C>T (p.Ala1277Val)
|
|
|
NM_025114.4(CEP290):c.3838_3840dup (p.Leu1280_Ala1281insLeu)
|
|
|
NM_025114.4(CEP290):c.385A>G (p.Arg129Gly)
|
rs2138214415
|
|
NM_025114.4(CEP290):c.3860C>T (p.Ser1287Phe)
|
|
|
NM_025114.4(CEP290):c.389A>G (p.Glu130Gly)
|
|
|
NM_025114.4(CEP290):c.38T>A (p.Val13Asp)
|
|
|
NM_025114.4(CEP290):c.3925C>G (p.Gln1309Glu)
|
|
|
NM_025114.4(CEP290):c.3931C>G (p.His1311Asp)
|
|
|
NM_025114.4(CEP290):c.3938A>T (p.Asn1313Ile)
|
|
|
NM_025114.4(CEP290):c.3948C>G (p.Asn1316Lys)
|
rs1361449401
|
|
NM_025114.4(CEP290):c.3949A>G (p.Lys1317Glu)
|
rs2137270029
|
|
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr)
|
rs778137534
|
|
NM_025114.4(CEP290):c.3951_3977del (p.Thr1318_Lys1326del)
|
|
|
NM_025114.4(CEP290):c.3980G>T (p.Gly1327Val)
|
rs959651787
|
|
NM_025114.4(CEP290):c.4006A>G (p.Lys1336Glu)
|
rs2036809812
|
|
NM_025114.4(CEP290):c.4037A>G (p.Asn1346Ser)
|
|
|
NM_025114.4(CEP290):c.4043A>G (p.His1348Arg)
|
|
|
NM_025114.4(CEP290):c.4054GAA[1] (p.Glu1353del)
|
rs2036719008
|
|
NM_025114.4(CEP290):c.4088G>T (p.Arg1363Leu)
|
|
|
NM_025114.4(CEP290):c.4097T>G (p.Val1366Gly)
|
rs1270381017
|
|
NM_025114.4(CEP290):c.40G>A (p.Asp14Asn)
|
rs769179397
|
|
NM_025114.4(CEP290):c.4102G>T (p.Asp1368Tyr)
|
rs184143186
|
|
NM_025114.4(CEP290):c.4142A>C (p.Glu1381Ala)
|
|
|
NM_025114.4(CEP290):c.4175A>T (p.Glu1392Val)
|
rs2137248175
|
|
NM_025114.4(CEP290):c.4187A>G (p.Gln1396Arg)
|
|
|
NM_025114.4(CEP290):c.4194+5T>G
|
|
|
NM_025114.4(CEP290):c.4215G>A (p.Met1405Ile)
|
rs797045457
|
|
NM_025114.4(CEP290):c.4239C>A (p.Asp1413Glu)
|
|
|
NM_025114.4(CEP290):c.4267C>T (p.Arg1423Cys)
|
|
|
NM_025114.4(CEP290):c.4276A>C (p.Asn1426His)
|
|
|
NM_025114.4(CEP290):c.4286T>A (p.Leu1429Gln)
|
rs2137218717
|
|
NM_025114.4(CEP290):c.4298A>G (p.Gln1433Arg)
|
rs1157241942
|
|
NM_025114.4(CEP290):c.434A>G (p.Asn145Ser)
|
|
|
NM_025114.4(CEP290):c.4358T>C (p.Leu1453Pro)
|
|
|
NM_025114.4(CEP290):c.4366G>A (p.Ala1456Thr)
|
rs375111436
|
|
NM_025114.4(CEP290):c.4373G>C (p.Arg1458Thr)
|
|
|
NM_025114.4(CEP290):c.4415C>A (p.Ala1472Glu)
|
|
|
NM_025114.4(CEP290):c.4454A>C (p.Glu1485Ala)
|
|
|
NM_025114.4(CEP290):c.448C>T (p.Leu150Phe)
|
|
|
NM_025114.4(CEP290):c.4496A>T (p.Asp1499Val)
|
rs2036455482
|
|
NM_025114.4(CEP290):c.4507A>C (p.Asn1503His)
|
|
|
NM_025114.4(CEP290):c.4517G>C (p.Arg1506Thr)
|
rs1266234548
|
|
NM_025114.4(CEP290):c.4547A>G (p.Glu1516Gly)
|
rs367941106
|
|
NM_025114.4(CEP290):c.454A>G (p.Asn152Asp)
|
|
|
NM_025114.4(CEP290):c.4555A>G (p.Ile1519Val)
|
rs200817579
|
|
NM_025114.4(CEP290):c.4586C>G (p.Pro1529Arg)
|
rs759438587
|
|
NM_025114.4(CEP290):c.4600A>C (p.Thr1534Pro)
|
rs2036443574
|
|
NM_025114.4(CEP290):c.4604T>C (p.Leu1535Ser)
|
rs2137184439
|
|
NM_025114.4(CEP290):c.4614_4615delinsCT (p.His1539Tyr)
|
|
|
NM_025114.4(CEP290):c.4619A>C (p.Gln1540Pro)
|
|
|
NM_025114.4(CEP290):c.4619A>G (p.Gln1540Arg)
|
|
|
NM_025114.4(CEP290):c.4628C>T (p.Ala1543Val)
|
rs2036441054
|
|
NM_025114.4(CEP290):c.4638A>T (p.Gln1546His)
|
|
|
NM_025114.4(CEP290):c.463G>A (p.Ala155Thr)
|
rs2138114070
|
|
NM_025114.4(CEP290):c.4651C>A (p.Gln1551Lys)
|
|
|
NM_025114.4(CEP290):c.4674G>T (p.Lys1558Asn)
|
|
|
NM_025114.4(CEP290):c.4676A>G (p.Tyr1559Cys)
|
|
|
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His)
|
rs371157150
|
|
NM_025114.4(CEP290):c.4682G>C (p.Arg1561Pro)
|
|
|
NM_025114.4(CEP290):c.4693A>G (p.Lys1565Glu)
|
|
|
NM_025114.4(CEP290):c.46G>C (p.Asp16His)
|
rs2040641439
|
|
NM_025114.4(CEP290):c.4700G>C (p.Arg1567Thr)
|
|
|
NM_025114.4(CEP290):c.4704+3A>G
|
|
|
NM_025114.4(CEP290):c.4705G>A (p.Glu1569Lys)
|
rs2137170285
|
|
NM_025114.4(CEP290):c.4717A>T (p.Ile1573Phe)
|
|
|
NM_025114.4(CEP290):c.4726A>G (p.Lys1576Glu)
|
rs1203769698
|
|
NM_025114.4(CEP290):c.4745A>G (p.His1582Arg)
|
|
|
NM_025114.4(CEP290):c.4790A>G (p.Asn1597Ser)
|
rs1352598713
|
|
NM_025114.4(CEP290):c.4795T>C (p.Phe1599Leu)
|
|
|
NM_025114.4(CEP290):c.4812G>T (p.Trp1604Cys)
|
|
|
NM_025114.4(CEP290):c.4819A>T (p.Met1607Leu)
|
|
|
NM_025114.4(CEP290):c.4832C>T (p.Pro1611Leu)
|
|
|
NM_025114.4(CEP290):c.4840G>T (p.Val1614Phe)
|
|
|
NM_025114.4(CEP290):c.4844C>G (p.Pro1615Arg)
|
|
|
NM_025114.4(CEP290):c.4877T>C (p.Met1626Thr)
|
rs1413188289
|
|
NM_025114.4(CEP290):c.4882C>A (p.Gln1628Lys)
|
|
|
NM_025114.4(CEP290):c.4888G>A (p.Val1630Ile)
|
rs2036315177
|
|
NM_025114.4(CEP290):c.4894G>A (p.Glu1632Lys)
|
rs916470951
|
|
NM_025114.4(CEP290):c.4910T>C (p.Leu1637Pro)
|
|
|
NM_025114.4(CEP290):c.4923G>T (p.Leu1641Phe)
|
|
|
NM_025114.4(CEP290):c.4931T>A (p.Leu1644Gln)
|
rs763470977
|
|
NM_025114.4(CEP290):c.4986A>G (p.Val1662=)
|
|
|
NM_025114.4(CEP290):c.4995T>G (p.Phe1665Leu)
|
|
|
NM_025114.4(CEP290):c.4997A>G (p.Glu1666Gly)
|
rs566018288
|
|
NM_025114.4(CEP290):c.5012+5G>A
|
|
|
NM_025114.4(CEP290):c.5013G>C (p.Gln1671His)
|
rs1173154577
|
|
NM_025114.4(CEP290):c.5027A>T (p.His1676Leu)
|
|
|
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys)
|
rs760856790
|
|
NM_025114.4(CEP290):c.5032G>C (p.Asp1678His)
|
|
|
NM_025114.4(CEP290):c.5033A>T (p.Asp1678Val)
|
rs1174731379
|
|
NM_025114.4(CEP290):c.5056G>A (p.Glu1686Lys)
|
|
|
NM_025114.4(CEP290):c.5057A>G (p.Glu1686Gly)
|
|
|
NM_025114.4(CEP290):c.5070A>C (p.Leu1690Phe)
|
|
|
NM_025114.4(CEP290):c.5075A>G (p.Tyr1692Cys)
|
rs1565827486
|
|
NM_025114.4(CEP290):c.5083G>T (p.Asp1695Tyr)
|
rs1209477107
|
|
NM_025114.4(CEP290):c.5086C>G (p.Gln1696Glu)
|
rs2036106218
|
|
NM_025114.4(CEP290):c.5101T>C (p.Ser1701Pro)
|
|
|
NM_025114.4(CEP290):c.5134A>G (p.Lys1712Glu)
|
rs1241267572
|
|
NM_025114.4(CEP290):c.5143A>G (p.Asn1715Asp)
|
rs1565827241
|
|
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys)
|
rs568619750
|
|
NM_025114.4(CEP290):c.5158A>G (p.Thr1720Ala)
|
rs1555205391
|
|
NM_025114.4(CEP290):c.5159C>G (p.Thr1720Arg)
|
|
|
NM_025114.4(CEP290):c.5203G>A (p.Ala1735Thr)
|
rs2036093152
|
|
NM_025114.4(CEP290):c.5204C>T (p.Ala1735Val)
|
rs1311947993
|
|
NM_025114.4(CEP290):c.5218_5226del (p.Gln1740_Lys1742del)
|
|
|
NM_025114.4(CEP290):c.5219A>C (p.Gln1740Pro)
|
|
|
NM_025114.4(CEP290):c.5225A>G (p.Lys1742Arg)
|
|
|
NM_025114.4(CEP290):c.5226+5_5226+8del
|
rs1353301232
|
|
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val)
|
rs951910051
|
|
NM_025114.4(CEP290):c.5230C>T (p.Leu1744Phe)
|
|
|
NM_025114.4(CEP290):c.5263A>G (p.Met1755Val)
|
|
|
NM_025114.4(CEP290):c.5282A>G (p.Glu1761Gly)
|
|
|
NM_025114.4(CEP290):c.5287A>C (p.Ile1763Leu)
|
|
|
NM_025114.4(CEP290):c.5299A>G (p.Thr1767Ala)
|
|
|
NM_025114.4(CEP290):c.530G>T (p.Cys177Phe)
|
|
|
NM_025114.4(CEP290):c.5324A>G (p.Asn1775Ser)
|
rs527586777
|
|
NM_025114.4(CEP290):c.5341G>A (p.Asp1781Asn)
|
|
|
NM_025114.4(CEP290):c.5343T>G (p.Asp1781Glu)
|
|
|
NM_025114.4(CEP290):c.5345G>A (p.Arg1782Gln)
|
|
|
NM_025114.4(CEP290):c.5364+3G>A
|
|
|
NM_025114.4(CEP290):c.5366C>T (p.Thr1789Ile)
|
rs2035901966
|
|
NM_025114.4(CEP290):c.5387A>C (p.Glu1796Ala)
|
rs2137060627
|
|
NM_025114.4(CEP290):c.5392C>G (p.Leu1798Val)
|
|
|
NM_025114.4(CEP290):c.5428A>G (p.Asn1810Asp)
|
rs1351470304
|
|
NM_025114.4(CEP290):c.5432G>A (p.Arg1811Lys)
|
|
|
NM_025114.4(CEP290):c.5468A>G (p.Asn1823Ser)
|
|
|
NM_025114.4(CEP290):c.5483A>G (p.Lys1828Arg)
|
|
|
NM_025114.4(CEP290):c.5507T>C (p.Ile1836Thr)
|
|
|
NM_025114.4(CEP290):c.5527A>G (p.Ile1843Val)
|
|
|
NM_025114.4(CEP290):c.5549T>C (p.Leu1850Pro)
|
rs1176131735
|
|
NM_025114.4(CEP290):c.5564_5566del (p.Lys1855del)
|
|
|
NM_025114.4(CEP290):c.5573C>T (p.Thr1858Ile)
|
|
|
NM_025114.4(CEP290):c.5576G>A (p.Ser1859Asn)
|
rs2137056432
|
|
NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg)
|
rs2035881706
|
|
NM_025114.4(CEP290):c.5583A>C (p.Leu1861Phe)
|
|
|
NM_025114.4(CEP290):c.5586+8_5586+9insGATTACAGGTAATTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
|
|
NM_025114.4(CEP290):c.5599A>G (p.Thr1867Ala)
|
|
|
NM_025114.4(CEP290):c.5605A>C (p.Asn1869His)
|
|
|
NM_025114.4(CEP290):c.560T>C (p.Ile187Thr)
|
|
|
NM_025114.4(CEP290):c.5648A>C (p.Lys1883Thr)
|
|
|
NM_025114.4(CEP290):c.5659C>A (p.Gln1887Lys)
|
|
|
NM_025114.4(CEP290):c.5684T>C (p.Val1895Ala)
|
|
|
NM_025114.4(CEP290):c.5698A>G (p.Met1900Val)
|
rs1415835597
|
|
NM_025114.4(CEP290):c.569A>G (p.Gln190Arg)
|
rs2039990572
|
|
NM_025114.4(CEP290):c.5733G>T (p.Arg1911Ser)
|
rs1565813077
|
|
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5790A>C (p.Lys1930Asn)
|
|
|
NM_025114.4(CEP290):c.5801G>A (p.Gly1934Glu)
|
|
|
NM_025114.4(CEP290):c.5803G>A (p.Glu1935Lys)
|
|
|
NM_025114.4(CEP290):c.5805A>T (p.Glu1935Asp)
|
rs2136964084
|
|
NM_025114.4(CEP290):c.5810T>C (p.Phe1937Ser)
|
rs2035398253
|
|
NM_025114.4(CEP290):c.5813C>T (p.Thr1938Ile)
|
rs2035397823
|
|
NM_025114.4(CEP290):c.5824C>A (p.Gln1942Lys)
|
|
|
NM_025114.4(CEP290):c.5825A>G (p.Gln1942Arg)
|
|
|
NM_025114.4(CEP290):c.5830A>T (p.Asn1944Tyr)
|
rs1014034003
|
|
NM_025114.4(CEP290):c.5852C>G (p.Ala1951Gly)
|
rs2035394009
|
|
NM_025114.4(CEP290):c.5873T>C (p.Leu1958Pro)
|
rs2136957996
|
|
NM_025114.4(CEP290):c.5899A>G (p.Thr1967Ala)
|
|
|
NM_025114.4(CEP290):c.58C>T (p.Arg20Cys)
|
rs779867970
|
|
NM_025114.4(CEP290):c.5911G>C (p.Val1971Leu)
|
rs2035364656
|
|
NM_025114.4(CEP290):c.5927G>A (p.Gly1976Glu)
|
rs2136956748
|
|
NM_025114.4(CEP290):c.5932C>G (p.Arg1978Gly)
|
rs371525247
|
|
NM_025114.4(CEP290):c.5944T>A (p.Ser1982Thr)
|
rs2035360147
|
|
NM_025114.4(CEP290):c.5962G>A (p.Glu1988Lys)
|
|
|
NM_025114.4(CEP290):c.5967A>T (p.Leu1989Phe)
|
|
|
NM_025114.4(CEP290):c.5969A>G (p.Lys1990Arg)
|
|
|
NM_025114.4(CEP290):c.5986T>G (p.Leu1996Val)
|
|
|
NM_025114.4(CEP290):c.5995G>C (p.Asp1999His)
|
rs2136955385
|
|
NM_025114.4(CEP290):c.5999T>C (p.Ile2000Thr)
|
rs1592782496
|
|
NM_025114.4(CEP290):c.6012G>A (p.Arg2004=)
|
rs2136913860
|
|
NM_025114.4(CEP290):c.6032G>A (p.Arg2011Gln)
|
|
|
NM_025114.4(CEP290):c.6037T>C (p.Ser2013Pro)
|
rs2136913105
|
|
NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala)
|
rs2136913105
|
|
NM_025114.4(CEP290):c.6045AGA[1] (p.Glu2016del)
|
rs1481875615
|
|
NM_025114.4(CEP290):c.6062A>C (p.Gln2021Pro)
|
|
|
NM_025114.4(CEP290):c.6065A>G (p.Asn2022Ser)
|
rs1283291449
|
|
NM_025114.4(CEP290):c.6067A>G (p.Arg2023Gly)
|
|
|
NM_025114.4(CEP290):c.6083A>G (p.Lys2028Arg)
|
|
|
NM_025114.4(CEP290):c.6105G>C (p.Gln2035His)
|
|
|
NM_025114.4(CEP290):c.6130C>T (p.Pro2044Ser)
|
rs750159998
|
|
NM_025114.4(CEP290):c.6134C>T (p.Ser2045Leu)
|
|
|
NM_025114.4(CEP290):c.6135A>G (p.Ser2045=)
|
rs2035114777
|
|
NM_025114.4(CEP290):c.6136A>G (p.Ile2046Val)
|
|
|
NM_025114.4(CEP290):c.613C>G (p.Arg205Gly)
|
|
|
NM_025114.4(CEP290):c.614G>A (p.Arg205Gln)
|
|
|
NM_025114.4(CEP290):c.6163T>G (p.Cys2055Gly)
|
rs2136814953
|
|
NM_025114.4(CEP290):c.6200A>G (p.Lys2067Arg)
|
|
|
NM_025114.4(CEP290):c.620A>G (p.Gln207Arg)
|
rs2138095264
|
|
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr)
|
rs2034695558
|
|
NM_025114.4(CEP290):c.6223C>G (p.Leu2075Val)
|
|
|
NM_025114.4(CEP290):c.6228A>T (p.Lys2076Asn)
|
rs2136813251
|
|
NM_025114.4(CEP290):c.6254A>T (p.Asp2085Val)
|
rs774510171
|
|
NM_025114.4(CEP290):c.6264A>G (p.Arg2088=)
|
rs2136812129
|
|
NM_025114.4(CEP290):c.6269A>G (p.Lys2090Arg)
|
|
|
NM_025114.4(CEP290):c.6297G>T (p.Met2099Ile)
|
rs753507165
|
|
NM_025114.4(CEP290):c.6299G>A (p.Cys2100Tyr)
|
rs1274778299
|
|
NM_025114.4(CEP290):c.6311A>C (p.Lys2104Thr)
|
|
|
NM_025114.4(CEP290):c.6312_6314del (p.Lys2105del)
|
rs749826807
|
|
NM_025114.4(CEP290):c.6347A>G (p.His2116Arg)
|
|
|
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser)
|
rs762397066
|
|
NM_025114.4(CEP290):c.6358-17_6358-10del
|
|
|
NM_025114.4(CEP290):c.6369T>G (p.Ser2123Arg)
|
|
|
NM_025114.4(CEP290):c.6388C>A (p.Leu2130Met)
|
rs1178627897
|
|
NM_025114.4(CEP290):c.6398C>A (p.Thr2133Asn)
|
rs775860198
|
|
NM_025114.4(CEP290):c.6421G>A (p.Val2141Ile)
|
rs2136751097
|
|
NM_025114.4(CEP290):c.6433C>G (p.Gln2145Glu)
|
rs747203539
|
|
NM_025114.4(CEP290):c.6435G>T (p.Gln2145His)
|
rs1308226735
|
|
NM_025114.4(CEP290):c.6445G>A (p.Glu2149Lys)
|
|
|
NM_025114.4(CEP290):c.6452T>G (p.Leu2151Trp)
|
rs191613017
|
|
NM_025114.4(CEP290):c.6461C>A (p.Ala2154Glu)
|
|
|
NM_025114.4(CEP290):c.6489G>A (p.Met2163Ile)
|
rs1017249180
|
|
NM_025114.4(CEP290):c.6497T>C (p.Ile2166Thr)
|
|
|
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del)
|
rs780211907
|
|
NM_025114.4(CEP290):c.6505G>A (p.Glu2169Lys)
|
rs2136748183
|
|
NM_025114.4(CEP290):c.6510T>A (p.Asn2170Lys)
|
|
|
NM_025114.4(CEP290):c.6538C>T (p.Leu2180Phe)
|
rs1381853150
|
|
NM_025114.4(CEP290):c.653A>G (p.Tyr218Cys)
|
|
|
NM_025114.4(CEP290):c.6541A>G (p.Lys2181Glu)
|
|
|
NM_025114.4(CEP290):c.6548A>C (p.His2183Pro)
|
rs2034340081
|
|
NM_025114.4(CEP290):c.6553G>C (p.Gly2185Arg)
|
|
|
NM_025114.4(CEP290):c.6570G>A (p.Met2190Ile)
|
rs1480802620
|
|
NM_025114.4(CEP290):c.6572A>G (p.His2191Arg)
|
rs368428115
|
|
NM_025114.4(CEP290):c.6592G>T (p.Gly2198Cys)
|
|
|
NM_025114.4(CEP290):c.6595A>T (p.Thr2199Ser)
|
|
|
NM_025114.4(CEP290):c.6644A>T (p.Lys2215Ile)
|
|
|
NM_025114.4(CEP290):c.6645+4T>A
|
|
|
NM_025114.4(CEP290):c.6649A>G (p.Thr2217Ala)
|
|
|
NM_025114.4(CEP290):c.6653A>G (p.Asp2218Gly)
|
rs2136706903
|
|
NM_025114.4(CEP290):c.6662A>C (p.Glu2221Ala)
|
|
|
NM_025114.4(CEP290):c.6670C>T (p.Arg2224Trp)
|
|
|
NM_025114.4(CEP290):c.667C>G (p.Gln223Glu)
|
rs2138093804
|
|
NM_025114.4(CEP290):c.6684T>G (p.Asn2228Lys)
|
|
|
NM_025114.4(CEP290):c.6686A>G (p.Asn2229Ser)
|
rs2034240934
|
|
NM_025114.4(CEP290):c.6734G>A (p.Gly2245Asp)
|
rs766640788
|
|
NM_025114.4(CEP290):c.6750T>G (p.Phe2250Leu)
|
|
|
NM_025114.4(CEP290):c.6764G>A (p.Gly2255Asp)
|
rs377561473
|
|
NM_025114.4(CEP290):c.6776A>C (p.Glu2259Ala)
|
|
|
NM_025114.4(CEP290):c.6805A>G (p.Ile2269Val)
|
|
|
NM_025114.4(CEP290):c.6823T>G (p.Tyr2275Asp)
|
|
|
NM_025114.4(CEP290):c.6824A>T (p.Tyr2275Phe)
|
|
|
NM_025114.4(CEP290):c.6841G>A (p.Glu2281Lys)
|
|
|
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val)
|
rs2033943524
|
|
NM_025114.4(CEP290):c.6847G>A (p.Glu2283Lys)
|
rs2136656424
|
|
NM_025114.4(CEP290):c.6869A>G (p.Asn2290Ser)
|
rs2033940025
|
|
NM_025114.4(CEP290):c.6875G>C (p.Ser2292Thr)
|
|
|
NM_025114.4(CEP290):c.6876C>G (p.Ser2292Arg)
|
rs538590274
|
|
NM_025114.4(CEP290):c.6892C>G (p.Gln2298Glu)
|
|
|
NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg)
|
rs1337960015
|
|
NM_025114.4(CEP290):c.6895C>T (p.Leu2299Phe)
|
|
|
NM_025114.4(CEP290):c.6917G>A (p.Arg2306Lys)
|
rs1772781673
|
|
NM_025114.4(CEP290):c.6919G>A (p.Glu2307Lys)
|
|
|
NM_025114.4(CEP290):c.6922C>A (p.Gln2308Lys)
|
|
|
NM_025114.4(CEP290):c.6929T>A (p.Val2310Asp)
|
|
|
NM_025114.4(CEP290):c.6933C>G (p.Asn2311Lys)
|
|
|
NM_025114.4(CEP290):c.6959A>T (p.Gln2320Leu)
|
rs780375623
|
|
NM_025114.4(CEP290):c.6960+5_6960+8del
|
rs2033930168
|
|
NM_025114.4(CEP290):c.6970C>T (p.Leu2324Phe)
|
rs1261405954
|
|
NM_025114.4(CEP290):c.6976C>A (p.His2326Asn)
|
rs2136637071
|
|
NM_025114.4(CEP290):c.6977A>G (p.His2326Arg)
|
|
|
NM_025114.4(CEP290):c.698A>G (p.Glu233Gly)
|
rs2138087140
|
|
NM_025114.4(CEP290):c.6991G>T (p.Ala2331Ser)
|
|
|
NM_025114.4(CEP290):c.7007G>A (p.Gly2336Asp)
|
rs863224794
|
|
NM_025114.4(CEP290):c.7008C>T (p.Gly2336=)
|
rs2136636238
|
|
NM_025114.4(CEP290):c.7016G>T (p.Arg2339Leu)
|
|
|
NM_025114.4(CEP290):c.7055A>T (p.Asp2352Val)
|
rs2033762979
|
|
NM_025114.4(CEP290):c.7056T>G (p.Asp2352Glu)
|
|
|
NM_025114.4(CEP290):c.7066G>A (p.Ala2356Thr)
|
|
|
NM_025114.4(CEP290):c.7067C>G (p.Ala2356Gly)
|
rs2136624871
|
|
NM_025114.4(CEP290):c.7084A>T (p.Ile2362Leu)
|
rs1364454411
|
|
NM_025114.4(CEP290):c.7107T>A (p.Ser2369Arg)
|
|
|
NM_025114.4(CEP290):c.7111G>T (p.Ala2371Ser)
|
|
|
NM_025114.4(CEP290):c.7124T>C (p.Ile2375Thr)
|
rs540340404
|
|
NM_025114.4(CEP290):c.713A>C (p.Glu238Ala)
|
rs2138086785
|
|
NM_025114.4(CEP290):c.7150A>G (p.Lys2384Glu)
|
|
|
NM_025114.4(CEP290):c.7153A>G (p.Ile2385Val)
|
|
|
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
|
|
|
NM_025114.4(CEP290):c.7174C>T (p.Leu2392Phe)
|
|
|
NM_025114.4(CEP290):c.7186G>C (p.Asp2396His)
|
|
|
NM_025114.4(CEP290):c.7198C>G (p.Gln2400Glu)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7222A>C (p.Lys2408Gln)
|
|
|
NM_025114.4(CEP290):c.7237C>A (p.Leu2413Met)
|
rs2136547632
|
|
NM_025114.4(CEP290):c.7243A>G (p.Asn2415Asp)
|
|
|
NM_025114.4(CEP290):c.7256C>T (p.Ser2419Leu)
|
rs2136547201
|
|
NM_025114.4(CEP290):c.727T>A (p.Leu243Ile)
|
|
|
NM_025114.4(CEP290):c.7282_7284dup (p.Lys2428_Tyr2429insLys)
|
|
|
NM_025114.4(CEP290):c.7303G>A (p.Val2435Met)
|
rs2136546112
|
|
NM_025114.4(CEP290):c.7305GAA[2] (p.Lys2437del)
|
rs768777116
|
|
NM_025114.4(CEP290):c.7305GAA[4] (p.Lys2437_Asn2438insLys)
|
|
|
NM_025114.4(CEP290):c.7316T>C (p.Ile2439Thr)
|
|
|
NM_025114.4(CEP290):c.7358_7359delinsAG (p.Gly2453Glu)
|
|
|
NM_025114.4(CEP290):c.7370C>T (p.Thr2457Ile)
|
rs2033234687
|
|
NM_025114.4(CEP290):c.7381GCT[1] (p.Ala2462del)
|
rs1345322609
|
|
NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs)
|
rs757255407
|
|
NM_025114.4(CEP290):c.7393_7395dup (p.Glu2465_Phe2466insGlu)
|
|
|
NM_025114.4(CEP290):c.7394_7397dup (p.Phe2466fs)
|
|
|
NM_025114.4(CEP290):c.7397T>C (p.Phe2466Ser)
|
rs1159836808
|
|
NM_025114.4(CEP290):c.7405GAA[2] (p.Glu2471del)
|
rs777398895
|
|
NM_025114.4(CEP290):c.7411G>A (p.Glu2471Lys)
|
|
|
NM_025114.4(CEP290):c.7411_7412del (p.Glu2471fs)
|
rs1368325179
|
|
NM_025114.4(CEP290):c.7430C>G (p.Pro2477Arg)
|
rs2033224468
|
|
NM_025114.4(CEP290):c.74C>T (p.Ala25Val)
|
|
|
NM_025114.4(CEP290):c.753G>T (p.Glu251Asp)
|
rs2039957080
|
|
NM_025114.4(CEP290):c.758_760del (p.Met253del)
|
rs2039956756
|
|
NM_025114.4(CEP290):c.78T>G (p.Asp26Glu)
|
|
|
NM_025114.4(CEP290):c.790G>T (p.Val264Leu)
|
rs1242440672
|
|
NM_025114.4(CEP290):c.794A>G (p.His265Arg)
|
rs902444632
|
|
NM_025114.4(CEP290):c.835G>T (p.Asp279Tyr)
|
rs796540607
|
|
NM_025114.4(CEP290):c.839A>G (p.His280Arg)
|
|
|
NM_025114.4(CEP290):c.850C>G (p.Gln284Glu)
|
|
|
NM_025114.4(CEP290):c.852A>T (p.Gln284His)
|
rs1592671091
|
|
NM_025114.4(CEP290):c.853G>A (p.Val285Met)
|
|
|
NM_025114.4(CEP290):c.854T>G (p.Val285Gly)
|
|
|
NM_025114.4(CEP290):c.871C>A (p.Leu291Ile)
|
|
|
NM_025114.4(CEP290):c.890A>T (p.Glu297Val)
|
|
|
NM_025114.4(CEP290):c.894A>C (p.Glu298Asp)
|
|
|
NM_025114.4(CEP290):c.894A>T (p.Glu298Asp)
|
rs2039900054
|
|
NM_025114.4(CEP290):c.895G>A (p.Asp299Asn)
|
|
|
NM_025114.4(CEP290):c.898G>A (p.Asp300Asn)
|
|
|
NM_025114.4(CEP290):c.916G>T (p.Val306Phe)
|
rs558949569
|
|
NM_025114.4(CEP290):c.948T>G (p.Ile316Met)
|
rs767967987
|
|
NM_025114.4(CEP290):c.961G>A (p.Asp321Asn)
|
rs2138024512
|
|
NM_025114.4(CEP290):c.962A>T (p.Asp321Val)
|
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
NM_025114.4(CEP290):c.964G>A (p.Asp322Asn)
|
rs536127246
|
|
NM_025114.4(CEP290):c.983A>C (p.Gln328Pro)
|
|
|
NM_025114.4(CEP290):c.994C>T (p.His332Tyr)
|
|
|
NM_025132.4(WDR19):c.1012A>T (p.Thr338Ser)
|
rs1729016178
|
|
NM_025132.4(WDR19):c.1070G>A (p.Cys357Tyr)
|
|
|
NM_025132.4(WDR19):c.1099C>G (p.Leu367Val)
|
rs1064797308
|
|
NM_025132.4(WDR19):c.1112C>T (p.Thr371Ile)
|
rs2109326721
|
|
NM_025132.4(WDR19):c.1142C>G (p.Pro381Arg)
|
|
|
NM_025132.4(WDR19):c.1150G>A (p.Val384Ile)
|
rs2109327092
|
|
NM_025132.4(WDR19):c.11T>C (p.Ile4Thr)
|
rs2109740507
|
|
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile)
|
rs1729054259
|
|
NM_025132.4(WDR19):c.1241G>A (p.Gly414Glu)
|
|
|
NM_025132.4(WDR19):c.1262T>G (p.Leu421Trp)
|
|
|
NM_025132.4(WDR19):c.1323T>A (p.Ala441=)
|
rs2109329846
|
|
NM_025132.4(WDR19):c.1327C>A (p.Leu443Ile)
|
rs1368404511
|
|
NM_025132.4(WDR19):c.1328T>C (p.Leu443Pro)
|
rs1729154313
|
|
NM_025132.4(WDR19):c.1342G>A (p.Val448Ile)
|
rs760418892
|
|
NM_025132.4(WDR19):c.1342G>C (p.Val448Leu)
|
rs760418892
|
|
NM_025132.4(WDR19):c.1352A>G (p.His451Arg)
|
|
|
NM_025132.4(WDR19):c.1356+4A>G
|
|
|
NM_025132.4(WDR19):c.1373T>C (p.Leu458Ser)
|
rs1729252548
|
|
NM_025132.4(WDR19):c.1384GAA[1] (p.Glu463del)
|
rs763535788
|
|
NM_025132.4(WDR19):c.1385A>T (p.Glu462Val)
|
rs2109331852
|
|
NM_025132.4(WDR19):c.1427G>C (p.Cys476Ser)
|
|
|
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe)
|
rs1560503998
|
|
NM_025132.4(WDR19):c.1479T>C (p.Asp493=)
|
rs1207013785
|
|
NM_025132.4(WDR19):c.1493A>G (p.Gln498Arg)
|
rs2109349675
|
|
NM_025132.4(WDR19):c.1537C>A (p.His513Asn)
|
rs2109349795
|
|
NM_025132.4(WDR19):c.1541C>A (p.Pro514His)
|
|
|
NM_025132.4(WDR19):c.1576G>A (p.Gly526Arg)
|
rs1335665760
|
|
NM_025132.4(WDR19):c.1658A>G (p.Asp553Gly)
|
|
|
NM_025132.4(WDR19):c.1673T>C (p.Ile558Thr)
|
rs1730480639
|
|
NM_025132.4(WDR19):c.1681G>A (p.Val561Ile)
|
|
|
NM_025132.4(WDR19):c.1711G>A (p.Gly571Ser)
|
rs2109357664
|
|
NM_025132.4(WDR19):c.1730A>G (p.Asp577Gly)
|
|
|
NM_025132.4(WDR19):c.1732G>A (p.Asp578Asn)
|
|
|
NM_025132.4(WDR19):c.1762A>G (p.Lys588Glu)
|
rs1469699848
|
|
NM_025132.4(WDR19):c.1772T>C (p.Ile591Thr)
|
|
|
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu)
|
rs190192706
|
|
NM_025132.4(WDR19):c.1778G>A (p.Gly593Glu)
|
|
|
NM_025132.4(WDR19):c.1810G>T (p.Val604Phe)
|
rs1245108212
|
|
NM_025132.4(WDR19):c.1816T>C (p.Phe606Leu)
|
rs2109358423
|
|
NM_025132.4(WDR19):c.1856C>A (p.Thr619Asn)
|
|
|
NM_025132.4(WDR19):c.186G>C (p.Trp62Cys)
|
rs2109250538
|
|
NM_025132.4(WDR19):c.1919A>C (p.Asn640Thr)
|
rs2109358802
|
|
NM_025132.4(WDR19):c.1919A>T (p.Asn640Ile)
|
rs2109358802
|
|
NM_025132.4(WDR19):c.1944A>T (p.Glu648Asp)
|
rs2109358945
|
|
NM_025132.4(WDR19):c.1951C>G (p.Pro651Ala)
|
rs2109358967
|
|
NM_025132.4(WDR19):c.1954A>G (p.Met652Val)
|
|
|
NM_025132.4(WDR19):c.197G>A (p.Gly66Glu)
|
rs780621466
|
|
NM_025132.4(WDR19):c.1994C>T (p.Ala665Val)
|
|
|
NM_025132.4(WDR19):c.2003T>C (p.Met668Thr)
|
rs1577943470
|
|
NM_025132.4(WDR19):c.2023G>A (p.Glu675Lys)
|
|
|
NM_025132.4(WDR19):c.2030C>T (p.Ala677Val)
|
rs2109366909
|
|
NM_025132.4(WDR19):c.2056C>G (p.Leu686Val)
|
|
|
NM_025132.4(WDR19):c.2057T>C (p.Leu686Pro)
|
|
|
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr)
|
rs1577943727
|
|
NM_025132.4(WDR19):c.2074G>C (p.Glu692Gln)
|
rs1730907908
|
|
NM_025132.4(WDR19):c.2083A>G (p.Ile695Val)
|
|
|
NM_025132.4(WDR19):c.2114G>A (p.Gly705Asp)
|
|
|
NM_025132.4(WDR19):c.2143-12T>G
|
|
|
NM_025132.4(WDR19):c.2146A>G (p.Ile716Val)
|
|
|
NM_025132.4(WDR19):c.2167G>C (p.Ala723Pro)
|
rs2109368181
|
|
NM_025132.4(WDR19):c.2183T>A (p.Met728Lys)
|
|
|
NM_025132.4(WDR19):c.2185T>C (p.Phe729Leu)
|
|
|
NM_025132.4(WDR19):c.2201A>G (p.Asn734Ser)
|
|
|
NM_025132.4(WDR19):c.2203C>G (p.Leu735Val)
|
|
|
NM_025132.4(WDR19):c.2213A>T (p.Asp738Val)
|
rs1307951215
|
|
NM_025132.4(WDR19):c.2218T>C (p.Tyr740His)
|
rs886059399
|
|
NM_025132.4(WDR19):c.2236C>T (p.Pro746Ser)
|
rs372232320
|
|
NM_025132.4(WDR19):c.2237C>G (p.Pro746Arg)
|
rs2109368525
|
|
NM_025132.4(WDR19):c.223A>C (p.Lys75Gln)
|
|
|
NM_025132.4(WDR19):c.2248C>G (p.Leu750Val)
|
|
|
NM_025132.4(WDR19):c.2285C>T (p.Ala762Val)
|
|
|
NM_025132.4(WDR19):c.2302C>A (p.His768Asn)
|
rs2109377406
|
|
NM_025132.4(WDR19):c.2305T>G (p.Leu769Val)
|
|
|
NM_025132.4(WDR19):c.2312C>T (p.Pro771Leu)
|
rs1249345016
|
|
NM_025132.4(WDR19):c.2320A>T (p.Ile774Leu)
|
rs762043395
|
|
NM_025132.4(WDR19):c.2324C>G (p.Pro775Arg)
|
rs1731220593
|
|
NM_025132.4(WDR19):c.233G>A (p.Cys78Tyr)
|
rs200354828
|
|
NM_025132.4(WDR19):c.2377A>G (p.Asn793Asp)
|
rs780435361
|
|
NM_025132.4(WDR19):c.2381C>G (p.Ala794Gly)
|
|
|
NM_025132.4(WDR19):c.2386G>T (p.Ala796Ser)
|
|
|
NM_025132.4(WDR19):c.2404A>G (p.Ile802Val)
|
rs750584650
|
|
NM_025132.4(WDR19):c.2411G>A (p.Gly804Asp)
|
|
|
NM_025132.4(WDR19):c.2413G>A (p.Asp805Asn)
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|
|
NM_025132.4(WDR19):c.2414A>T (p.Asp805Val)
|
|
|
NM_025132.4(WDR19):c.2421+5C>A
|
rs563302411
|
|
NM_025132.4(WDR19):c.2422G>C (p.Glu808Gln)
|
|
|
NM_025132.4(WDR19):c.2428G>T (p.Asp810Tyr)
|
rs1168307194
|
|
NM_025132.4(WDR19):c.2435C>G (p.Ala812Gly)
|
|
|
NM_025132.4(WDR19):c.2472G>A (p.Met824Ile)
|
rs1175997746
|
|
NM_025132.4(WDR19):c.2479A>G (p.Ile827Val)
|
rs2109405829
|
|
NM_025132.4(WDR19):c.2480T>G (p.Ile827Arg)
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|
|
NM_025132.4(WDR19):c.2483G>A (p.Arg828His)
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|
|
NM_025132.4(WDR19):c.2483G>C (p.Arg828Pro)
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|
|
NM_025132.4(WDR19):c.2485C>G (p.Arg829Gly)
|
|
|
NM_025132.4(WDR19):c.2486G>A (p.Arg829Gln)
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|
|
NM_025132.4(WDR19):c.2503C>G (p.Leu835Val)
|
|
|
NM_025132.4(WDR19):c.2551G>A (p.Glu851Lys)
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|
|
NM_025132.4(WDR19):c.2562+19_2562+28del
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|
|
NM_025132.4(WDR19):c.2562+5T>C
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|
NM_025132.4(WDR19):c.2563-3T>C
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NM_025132.4(WDR19):c.2563-6T>C
|
rs1213227553
|
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NM_025132.4(WDR19):c.2591A>G (p.Glu864Gly)
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|
|
NM_025132.4(WDR19):c.2597G>A (p.Gly866Asp)
|
rs2109406612
|
|
NM_025132.4(WDR19):c.2629A>C (p.Ile877Leu)
|
rs2109406828
|
|
NM_025132.4(WDR19):c.2633G>A (p.Arg878His)
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|
|
NM_025132.4(WDR19):c.2635T>C (p.Ser879Pro)
|
rs2109406888
|
|
NM_025132.4(WDR19):c.2646-16G>A
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|
NM_025132.4(WDR19):c.2646-9C>T
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|
|
NM_025132.4(WDR19):c.2648C>T (p.Ala883Val)
|
rs1328854619
|
|
NM_025132.4(WDR19):c.2681C>T (p.Ser894Phe)
|
rs2109410308
|
|
NM_025132.4(WDR19):c.2683C>G (p.Pro895Ala)
|
rs1732419230
|
|
NM_025132.4(WDR19):c.2683_2685del (p.Pro895del)
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|
|
NM_025132.4(WDR19):c.2684C>A (p.Pro895His)
|
rs774529884
|
|
NM_025132.4(WDR19):c.2691C>G (p.Ile897Met)
|
|
|
NM_025132.4(WDR19):c.270C>T (p.Ser90=)
|
rs1725957452
|
|
NM_025132.4(WDR19):c.2743G>C (p.Val915Leu)
|
|
|
NM_025132.4(WDR19):c.2749G>A (p.Ala917Thr)
|
|
|
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile)
|
rs751386429
|
|
NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe)
|
rs780963454
|
|
NM_025132.4(WDR19):c.2786G>C (p.Arg929Pro)
|
rs201685269
|
|
NM_025132.4(WDR19):c.2816A>C (p.Glu939Ala)
|
|
|
NM_025132.4(WDR19):c.2828A>C (p.Asn943Thr)
|
rs778487491
|
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NM_025132.4(WDR19):c.2828A>G (p.Asn943Ser)
|
rs778487491
|
|
NM_025132.4(WDR19):c.2833G>A (p.Val945Ile)
|
|
|
NM_025132.4(WDR19):c.2869G>A (p.Val957Ile)
|
|
|
NM_025132.4(WDR19):c.2880T>G (p.Phe960Leu)
|
rs1171033092
|
|
NM_025132.4(WDR19):c.2891T>C (p.Leu964Pro)
|
rs1733504639
|
|
NM_025132.4(WDR19):c.290G>A (p.Arg97Lys)
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|
|
NM_025132.4(WDR19):c.292G>T (p.Asp98Tyr)
|
rs1317389016
|
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NM_025132.4(WDR19):c.2934A>C (p.Lys978Asn)
|
|
|
NM_025132.4(WDR19):c.2941A>C (p.Asn981His)
|
rs1486655648
|
|
NM_025132.4(WDR19):c.2977A>G (p.Met993Val)
|
rs1733514837
|
|
NM_025132.4(WDR19):c.2978T>C (p.Met993Thr)
|
rs750227475
|
|
NM_025132.4(WDR19):c.2987A>G (p.Tyr996Cys)
|
|
|
NM_025132.4(WDR19):c.2990C>A (p.Ala997Glu)
|
rs1381022232
|
|
NM_025132.4(WDR19):c.3000T>C (p.Ile1000=)
|
rs1733517192
|
|
NM_025132.4(WDR19):c.3002G>A (p.Gly1001Asp)
|
|
|
NM_025132.4(WDR19):c.3045A>T (p.Leu1015Phe)
|
|
|
NM_025132.4(WDR19):c.3066A>G (p.Arg1022=)
|
|
|
NM_025132.4(WDR19):c.3068A>G (p.Tyr1023Cys)
|
rs759424617
|
|
NM_025132.4(WDR19):c.3105A>G (p.Gln1035=)
|
|
|
NM_025132.4(WDR19):c.3110C>T (p.Ser1037Leu)
|
rs1224983700
|
|
NM_025132.4(WDR19):c.3114+4A>G
|
|
|
NM_025132.4(WDR19):c.3129C>G (p.Phe1043Leu)
|
|
|
NM_025132.4(WDR19):c.3140C>A (p.Pro1047Gln)
|
|
|
NM_025132.4(WDR19):c.3151G>T (p.Asp1051Tyr)
|
rs1387754769
|
|
NM_025132.4(WDR19):c.3156T>G (p.Asn1052Lys)
|
rs2109452251
|
|
NM_025132.4(WDR19):c.3158T>C (p.Val1053Ala)
|
|
|
NM_025132.4(WDR19):c.3160G>T (p.Ala1054Ser)
|
rs756862143
|
|
NM_025132.4(WDR19):c.3183+3A>G
|
|
|
NM_025132.4(WDR19):c.3225_3230del (p.Asp1076_His1077del)
|
|
|
NM_025132.4(WDR19):c.3229C>G (p.His1077Asp)
|
|
|
NM_025132.4(WDR19):c.3230A>G (p.His1077Arg)
|
|
|
NM_025132.4(WDR19):c.3232C>T (p.Leu1078Phe)
|
|
|
NM_025132.4(WDR19):c.3236T>C (p.Leu1079Pro)
|
rs2109483428
|
|
NM_025132.4(WDR19):c.3251G>T (p.Gly1084Val)
|
rs1394317306
|
|
NM_025132.4(WDR19):c.3262-8T>C
|
|
|
NM_025132.4(WDR19):c.3289A>C (p.Met1097Leu)
|
|
|
NM_025132.4(WDR19):c.3289A>T (p.Met1097Leu)
|
|
|
NM_025132.4(WDR19):c.328A>G (p.Ser110Gly)
|
rs2109264662
|
|
NM_025132.4(WDR19):c.3311A>T (p.Glu1104Val)
|
rs1734985961
|
|
NM_025132.4(WDR19):c.332T>G (p.Phe111Cys)
|
|
|
NM_025132.4(WDR19):c.3337G>T (p.Ala1113Ser)
|
|
|
NM_025132.4(WDR19):c.333C>A (p.Phe111Leu)
|
rs755327576
|
|
NM_025132.4(WDR19):c.3349C>A (p.Gln1117Lys)
|
|
|
NM_025132.4(WDR19):c.3355G>A (p.Ala1119Thr)
|
rs915717367
|
|
NM_025132.4(WDR19):c.3358+12A>G
|
rs2109490722
|
|
NM_025132.4(WDR19):c.3359-5T>A
|
|
|
NM_025132.4(WDR19):c.3373G>A (p.Ala1125Thr)
|
|
|
NM_025132.4(WDR19):c.3374C>T (p.Ala1125Val)
|
rs1735186262
|
|
NM_025132.4(WDR19):c.3391A>G (p.Ser1131Gly)
|
rs2109496811
|
|
NM_025132.4(WDR19):c.3395T>G (p.Met1132Arg)
|
rs2109496840
|
|
NM_025132.4(WDR19):c.3449A>C (p.Asn1150Thr)
|
rs2109497125
|
|
NM_025132.4(WDR19):c.3466A>G (p.Ser1156Gly)
|
rs2109497278
|
|
NM_025132.4(WDR19):c.3470A>G (p.Tyr1157Cys)
|
rs1735198326
|
|
NM_025132.4(WDR19):c.3508A>G (p.Met1170Val)
|
rs371474583
|
|
NM_025132.4(WDR19):c.3511A>G (p.Lys1171Glu)
|
|
|
NM_025132.4(WDR19):c.3513A>T (p.Lys1171Asn)
|
rs765379022
|
|
NM_025132.4(WDR19):c.3520C>A (p.Arg1174Ser)
|
rs755139948
|
|
NM_025132.4(WDR19):c.3521G>T (p.Arg1174Leu)
|
rs372719724
|
|
NM_025132.4(WDR19):c.3545A>G (p.Asn1182Ser)
|
rs1277873234
|
|
NM_025132.4(WDR19):c.3547A>G (p.Ile1183Val)
|
|
|
NM_025132.4(WDR19):c.3566-6T>A
|
|
|
NM_025132.4(WDR19):c.3584C>T (p.Thr1195Met)
|
|
|
NM_025132.4(WDR19):c.3596T>C (p.Ile1199Thr)
|
|
|
NM_025132.4(WDR19):c.359A>T (p.Asn120Ile)
|
rs2109264782
|
|
NM_025132.4(WDR19):c.3614G>C (p.Gly1205Ala)
|
|
|
NM_025132.4(WDR19):c.3634A>G (p.Ser1212Gly)
|
|
|
NM_025132.4(WDR19):c.3636C>G (p.Ser1212Arg)
|
rs2109514971
|
|
NM_025132.4(WDR19):c.3651G>T (p.Leu1217Phe)
|
|
|
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu)
|
rs1735748675
|
|
NM_025132.4(WDR19):c.3668G>C (p.Arg1223Pro)
|
|
|
NM_025132.4(WDR19):c.3681T>G (p.Asp1227Glu)
|
rs573727744
|
|
NM_025132.4(WDR19):c.3691A>G (p.Lys1231Glu)
|
|
|
NM_025132.4(WDR19):c.371A>G (p.Tyr124Cys)
|
rs2109264795
|
|
NM_025132.4(WDR19):c.3728T>C (p.Ile1243Thr)
|
|
|
NM_025132.4(WDR19):c.373A>C (p.Asn125His)
|
|
|
NM_025132.4(WDR19):c.376C>T (p.His126Tyr)
|
|
|
NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile)
|
rs886059403
|
|
NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys)
|
rs1553919125
|
|
NM_025132.4(WDR19):c.3788G>A (p.Cys1263Tyr)
|
rs1735978246
|
|
NM_025132.4(WDR19):c.3834T>G (p.Ile1278Met)
|
rs1735983084
|
|
NM_025132.4(WDR19):c.3851T>C (p.Met1284Thr)
|
rs1438498947
|
|
NM_025132.4(WDR19):c.3869C>T (p.Thr1290Met)
|
rs1301360733
|
|
NM_025132.4(WDR19):c.388C>G (p.Arg130Gly)
|
|
|
NM_025132.4(WDR19):c.3913_3917+1dup
|
rs1736099193
|
|
NM_025132.4(WDR19):c.3918C>T (p.Ile1306=)
|
|
|
NM_025132.4(WDR19):c.3926A>T (p.Asn1309Ile)
|
rs1736142058
|
|
NM_025132.4(WDR19):c.3946A>C (p.Met1316Leu)
|
rs1736144507
|
|
NM_025132.4(WDR19):c.3946A>T (p.Met1316Leu)
|
rs1736144507
|
|
NM_025132.4(WDR19):c.3959G>C (p.Arg1320Thr)
|
rs1736145510
|
|
NM_025132.4(WDR19):c.4006C>G (p.Leu1336Val)
|
|
|
NM_025132.4(WDR19):c.4006_4013del (p.Leu1336fs)
|
rs2109526590
|
|
NM_025132.4(WDR19):c.4009C>G (p.Arg1337Gly)
|
rs367721770
|
|
NM_025132.4(WDR19):c.4009C>T (p.Arg1337Ter)
|
|
|
NM_025132.4(WDR19):c.4010G>A (p.Arg1337Gln)
|
rs745506402
|
|
NM_025132.4(WDR19):c.4021G>A (p.Glu1341Lys)
|
|
|
NM_025132.4(WDR19):c.437G>A (p.Cys146Tyr)
|
|
|
NM_025132.4(WDR19):c.522+8A>G
|
|
|
NM_025132.4(WDR19):c.535T>C (p.Ser179Pro)
|
|
|
NM_025132.4(WDR19):c.53A>G (p.Gln18Arg)
|
|
|
NM_025132.4(WDR19):c.553C>G (p.Gln185Glu)
|
rs769602871
|
|
NM_025132.4(WDR19):c.580C>G (p.Arg194Gly)
|
rs1445634325
|
|
NM_025132.4(WDR19):c.603+17A>G
|
rs2109296086
|
|
NM_025132.4(WDR19):c.604A>G (p.Ile202Val)
|
|
|
NM_025132.4(WDR19):c.628A>G (p.Thr210Ala)
|
|
|
NM_025132.4(WDR19):c.631T>G (p.Leu211Val)
|
|
|
NM_025132.4(WDR19):c.636T>G (p.Phe212Leu)
|
rs1727819329
|
|
NM_025132.4(WDR19):c.650A>G (p.Asn217Ser)
|
|
|
NM_025132.4(WDR19):c.65A>C (p.Gln22Pro)
|
rs2109740775
|
|
NM_025132.4(WDR19):c.673C>A (p.Leu225Ile)
|
rs1727822059
|
|
NM_025132.4(WDR19):c.696C>T (p.Gly232=)
|
|
|
NM_025132.4(WDR19):c.697A>G (p.Asn233Asp)
|
|
|
NM_025132.4(WDR19):c.7-5T>G
|
rs1725441027
|
|
NM_025132.4(WDR19):c.716+4T>A
|
rs2109300292
|
|
NM_025132.4(WDR19):c.727G>A (p.Gly243Ser)
|
rs1727857328
|
|
NM_025132.4(WDR19):c.731G>C (p.Arg244Pro)
|
|
|
NM_025132.4(WDR19):c.77G>C (p.Gly26Ala)
|
rs2109740825
|
|
NM_025132.4(WDR19):c.7C>T (p.Arg3Cys)
|
|
|
NM_025132.4(WDR19):c.806T>C (p.Phe269Ser)
|
rs1727870637
|
|
NM_025132.4(WDR19):c.812C>T (p.Ala271Val)
|
rs981943939
|
|
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys)
|
rs199812132
|
|
NM_025132.4(WDR19):c.815G>A (p.Arg272His)
|
|
|
NM_025132.4(WDR19):c.825_830del (p.Lys275_Asp276del)
|
|
|
NM_025132.4(WDR19):c.82T>C (p.Tyr28His)
|
|
|
NM_025132.4(WDR19):c.840C>G (p.Ser280Arg)
|
|
|
NM_025132.4(WDR19):c.841A>C (p.Ile281Leu)
|
rs1727876160
|
|
NM_025132.4(WDR19):c.925A>G (p.Met309Val)
|
|
|
NM_025132.4(WDR19):c.941A>G (p.Asn314Ser)
|
|
|
NM_025132.4(WDR19):c.956A>G (p.Asn319Ser)
|
rs1728875659
|
|
NM_025132.4(WDR19):c.959A>T (p.Lys320Ile)
|
rs1577897014
|
|
NM_030578.4(B9D2):c.115G>A (p.Val39Met)
|
rs761158280
|
|
NM_030578.4(B9D2):c.131C>T (p.Thr44Met)
|
|
|
NM_030578.4(B9D2):c.157G>T (p.Asp53Tyr)
|
rs746928334
|
|
NM_030578.4(B9D2):c.163_164delinsAA (p.Ala55Asn)
|
rs1555756363
|
|
NM_030578.4(B9D2):c.238G>A (p.Val80Met)
|
rs760432560
|
|
NM_030578.4(B9D2):c.307C>T (p.Pro103Ser)
|
|
|
NM_030578.4(B9D2):c.484G>A (p.Gly162Ser)
|
|
|
NM_030578.4(B9D2):c.508C>G (p.Arg170Gly)
|
rs371315485
|
|
NM_030578.4(B9D2):c.508C>T (p.Arg170Cys)
|
|
|
NM_030578.4(B9D2):c.509G>A (p.Arg170His)
|
|
|
NM_031427.4(DNAL1):c.136A>G (p.Met46Val)
|
rs2140031013
|
|
NM_031427.4(DNAL1):c.16A>G (p.Thr6Ala)
|
|
|
NM_031427.4(DNAL1):c.181G>C (p.Glu61Gln)
|
rs1595207277
|
|
NM_031427.4(DNAL1):c.200A>G (p.Asn67Ser)
|
|
|
NM_031427.4(DNAL1):c.286GAA[1] (p.Glu97del)
|
rs1595224083
|
|
NM_031427.4(DNAL1):c.472G>T (p.Ala158Ser)
|
rs1595225843
|
|
NM_031427.4(DNAL1):c.503del (p.Lys168fs)
|
rs1294769916
|
|
NM_031427.4(DNAL1):c.516del (p.Lys172fs)
|
|
|
NM_031427.4(DNAL1):c.530A>G (p.Asp177Gly)
|
rs1892115500
|
|
NM_031427.4(DNAL1):c.533-2A>G
|
rs1555403597
|
|
NM_031427.4(DNAL1):c.559G>A (p.Glu187Lys)
|
|
|
NM_031885.5(BBS2):c.1006G>A (p.Asp336Asn)
|
|
|
NM_031885.5(BBS2):c.1033A>C (p.Lys345Gln)
|
|
|
NM_031885.5(BBS2):c.1064A>T (p.Tyr355Phe)
|
rs1477561197
|
|
NM_031885.5(BBS2):c.1081-16G>A
|
|
|
NM_031885.5(BBS2):c.109A>G (p.Thr37Ala)
|
rs1284353332
|
|
NM_031885.5(BBS2):c.1108G>A (p.Ala370Thr)
|
rs1597015825
|
|
NM_031885.5(BBS2):c.1112A>T (p.Asp371Val)
|
rs1366351316
|
|
NM_031885.5(BBS2):c.1118A>G (p.His373Arg)
|
rs886052146
|
|
NM_031885.5(BBS2):c.1121G>A (p.Arg374Gln)
|
|
|
NM_031885.5(BBS2):c.113G>A (p.Gly38Asp)
|
rs748872389
|
|
NM_031885.5(BBS2):c.1142C>T (p.Thr381Ile)
|
|
|
NM_031885.5(BBS2):c.1150C>A (p.His384Asn)
|
rs2144145489
|
|
NM_031885.5(BBS2):c.117+6C>G
|
|
|
NM_031885.5(BBS2):c.118-6T>A
|
rs2144193881
|
|
NM_031885.5(BBS2):c.1190C>T (p.Thr397Ile)
|
rs368138622
|
|
NM_031885.5(BBS2):c.1193C>G (p.Ala398Gly)
|
|
|
NM_031885.5(BBS2):c.119T>G (p.Val40Gly)
|
rs1964683448
|
|
NM_031885.5(BBS2):c.1208G>A (p.Arg403His)
|
|
|
NM_031885.5(BBS2):c.1208G>C (p.Arg403Pro)
|
rs192007013
|
|
NM_031885.5(BBS2):c.1208G>T (p.Arg403Leu)
|
rs192007013
|
|
NM_031885.5(BBS2):c.1225+6A>G
|
rs2144145043
|
|
NM_031885.5(BBS2):c.1264A>G (p.Ile422Val)
|
rs1964254046
|
|
NM_031885.5(BBS2):c.1307A>G (p.Asn436Ser)
|
rs1964252649
|
|
NM_031885.5(BBS2):c.1309C>G (p.Leu437Val)
|
|
|
NM_031885.5(BBS2):c.1316G>T (p.Ser439Ile)
|
|
|
NM_031885.5(BBS2):c.133C>A (p.Pro45Thr)
|
rs2144193766
|
|
NM_031885.5(BBS2):c.1345A>G (p.Lys449Glu)
|
rs1964251202
|
|
NM_031885.5(BBS2):c.1392A>C (p.Arg464Ser)
|
|
|
NM_031885.5(BBS2):c.1397+6_1397+10delinsTAAAG
|
|
|
NM_031885.5(BBS2):c.1421C>T (p.Ser474Leu)
|
|
|
NM_031885.5(BBS2):c.1447A>G (p.Met483Val)
|
rs748721721
|
|
NM_031885.5(BBS2):c.1448T>C (p.Met483Thr)
|
|
|
NM_031885.5(BBS2):c.1454C>G (p.Ala485Gly)
|
|
|
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val)
|
rs376115616
|
|
NM_031885.5(BBS2):c.1469A>G (p.Asp490Gly)
|
rs1964211173
|
|
NM_031885.5(BBS2):c.1492T>A (p.Tyr498Asn)
|
rs1261310336
|
|
NM_031885.5(BBS2):c.1514A>G (p.Glu505Gly)
|
|
|
NM_031885.5(BBS2):c.1517G>A (p.Arg506Gln)
|
rs1278932190
|
|
NM_031885.5(BBS2):c.1527+3_1527+6del
|
rs1964208752
|
|
NM_031885.5(BBS2):c.1534G>T (p.Val512Leu)
|
|
|
NM_031885.5(BBS2):c.1540C>T (p.Leu514Phe)
|
|
|
NM_031885.5(BBS2):c.1543G>T (p.Gly515Cys)
|
rs181107019
|
|
NM_031885.5(BBS2):c.155T>A (p.Val52Asp)
|
rs2144193671
|
|
NM_031885.5(BBS2):c.1583A>G (p.Asn528Ser)
|
rs2144134843
|
|
NM_031885.5(BBS2):c.1585G>A (p.Ala529Thr)
|
rs1964175201
|
|
NM_031885.5(BBS2):c.1591T>A (p.Phe531Ile)
|
|
|
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys)
|
rs556899786
|
|
NM_031885.5(BBS2):c.1634A>C (p.His545Pro)
|
rs1461988620
|
|
NM_031885.5(BBS2):c.1649T>C (p.Leu550Pro)
|
rs2144134545
|
|
NM_031885.5(BBS2):c.1652G>C (p.Ser551Thr)
|
rs1442649485
|
|
NM_031885.5(BBS2):c.1675G>A (p.Asp559Asn)
|
|
|
NM_031885.5(BBS2):c.1682T>C (p.Ile561Thr)
|
|
|
NM_031885.5(BBS2):c.1690G>A (p.Ala564Thr)
|
rs780747680
|
|
NM_031885.5(BBS2):c.1744G>A (p.Val582Ile)
|
rs2144132540
|
|
NM_031885.5(BBS2):c.1750G>A (p.Ala584Thr)
|
|
|
NM_031885.5(BBS2):c.1751C>T (p.Ala584Val)
|
|
|
NM_031885.5(BBS2):c.1786G>C (p.Val596Leu)
|
|
|
NM_031885.5(BBS2):c.1791A>T (p.Leu597=)
|
|
|
NM_031885.5(BBS2):c.1798-16T>C
|
|
|
NM_031885.5(BBS2):c.1810C>T (p.His604Tyr)
|
|
|
NM_031885.5(BBS2):c.1816G>T (p.Val606Leu)
|
rs930659537
|
|
NM_031885.5(BBS2):c.1840A>G (p.Met614Val)
|
|
|
NM_031885.5(BBS2):c.1841T>C (p.Met614Thr)
|
|
|
NM_031885.5(BBS2):c.1847A>T (p.Asp616Val)
|
|
|
NM_031885.5(BBS2):c.1849C>T (p.His617Tyr)
|
rs2144130068
|
|
NM_031885.5(BBS2):c.1865G>A (p.Arg622Gln)
|
|
|
NM_031885.5(BBS2):c.1895G>A (p.Arg632His)
|
rs138043021
|
|
NM_031885.5(BBS2):c.1902G>C (p.Met634Ile)
|
|
|
NM_031885.5(BBS2):c.1919T>C (p.Met640Thr)
|
|
|
NM_031885.5(BBS2):c.1924A>C (p.Ser642Arg)
|
|
|
NM_031885.5(BBS2):c.1943A>G (p.Tyr648Cys)
|
|
|
NM_031885.5(BBS2):c.1957G>C (p.Asp653His)
|
|
|
NM_031885.5(BBS2):c.1964T>C (p.Leu655Pro)
|
rs2144095663
|
|
NM_031885.5(BBS2):c.1973A>T (p.Tyr658Phe)
|
rs753656568
|
|
NM_031885.5(BBS2):c.1981C>G (p.Arg661Gly)
|
|
|
NM_031885.5(BBS2):c.2006T>G (p.Leu669Trp)
|
rs2144095498
|
|
NM_031885.5(BBS2):c.2013C>A (p.Asn671Lys)
|
rs1963755306
|
|
NM_031885.5(BBS2):c.2033C>T (p.Ala678Val)
|
rs1191917991
|
|
NM_031885.5(BBS2):c.2044G>A (p.Ala682Thr)
|
rs777000749
|
|
NM_031885.5(BBS2):c.2051G>A (p.Arg684His)
|
rs138913160
|
|
NM_031885.5(BBS2):c.2059G>C (p.Val687Leu)
|
rs754067097
|
|
NM_031885.5(BBS2):c.2060-5T>G
|
rs374531370
|
|
NM_031885.5(BBS2):c.2084T>C (p.Ile695Thr)
|
rs1426683547
|
|
NM_031885.5(BBS2):c.2101G>C (p.Ala701Pro)
|
rs2144093137
|
|
NM_031885.5(BBS2):c.2108G>A (p.Arg703Gln)
|
rs1963728958
|
|
NM_031885.5(BBS2):c.2108G>T (p.Arg703Leu)
|
|
|
NM_031885.5(BBS2):c.2117A>T (p.Asn706Ile)
|
|
|
NM_031885.5(BBS2):c.2129T>C (p.Leu710Pro)
|
rs1963728191
|
|
NM_031885.5(BBS2):c.227G>C (p.Ser76Thr)
|
rs895169510
|
|
NM_031885.5(BBS2):c.235A>C (p.Thr79Pro)
|
rs1387025330
|
|
NM_031885.5(BBS2):c.239C>T (p.Ala80Val)
|
rs1964679008
|
|
NM_031885.5(BBS2):c.259C>T (p.Leu87Phe)
|
|
|
NM_031885.5(BBS2):c.265T>C (p.Tyr89His)
|
|
|
NM_031885.5(BBS2):c.268G>A (p.Asp90Asn)
|
|
|
NM_031885.5(BBS2):c.272C>A (p.Ala91Asp)
|
rs2144193029
|
|
NM_031885.5(BBS2):c.326C>T (p.Ser109Leu)
|
|
|
NM_031885.5(BBS2):c.345+4A>C
|
|
|
NM_031885.5(BBS2):c.345+4A>G
|
|
|
NM_031885.5(BBS2):c.35A>G (p.His12Arg)
|
rs1238233777
|
|
NM_031885.5(BBS2):c.365C>G (p.Ala122Gly)
|
rs17856449
|
|
NM_031885.5(BBS2):c.374T>C (p.Leu125Pro)
|
rs2144181949
|
|
NM_031885.5(BBS2):c.407C>A (p.Ala136Glu)
|
|
|
NM_031885.5(BBS2):c.407C>G (p.Ala136Gly)
|
rs373166163
|
|
NM_031885.5(BBS2):c.428C>T (p.Ala143Val)
|
rs2144181662
|
|
NM_031885.5(BBS2):c.451G>A (p.Gly151Arg)
|
|
|
NM_031885.5(BBS2):c.466T>G (p.Trp156Gly)
|
|
|
NM_031885.5(BBS2):c.471+3A>G
|
rs1964565857
|
|
NM_031885.5(BBS2):c.471+3_471+4delinsCA
|
rs1567582876
|
|
NM_031885.5(BBS2):c.482A>G (p.Asp161Gly)
|
rs755150651
|
|
NM_031885.5(BBS2):c.484_495del (p.Asn162_Ser165del)
|
rs2144180368
|
|
NM_031885.5(BBS2):c.485A>G (p.Asn162Ser)
|
rs749148042
|
|
NM_031885.5(BBS2):c.492T>G (p.Asn164Lys)
|
rs779800067
|
|
NM_031885.5(BBS2):c.49C>G (p.Arg17Gly)
|
|
|
NM_031885.5(BBS2):c.4C>A (p.Leu2Met)
|
rs2144214806
|
|
NM_031885.5(BBS2):c.503T>C (p.Leu168Ser)
|
|
|
NM_031885.5(BBS2):c.505T>C (p.Cys169Arg)
|
|
|
NM_031885.5(BBS2):c.534+5G>T
|
|
|
NM_031885.5(BBS2):c.535-15A>T
|
|
|
NM_031885.5(BBS2):c.535-19T>C
|
|
|
NM_031885.5(BBS2):c.535-27_535-3del
|
rs751101598
|
|
NM_031885.5(BBS2):c.535-4_535-3insA
|
|
|
NM_031885.5(BBS2):c.544G>C (p.Gly182Arg)
|
rs1964532476
|
|
NM_031885.5(BBS2):c.552G>C (p.Glu184Asp)
|
rs1423768973
|
|
NM_031885.5(BBS2):c.55G>A (p.Val19Met)
|
rs1158566793
|
|
NM_031885.5(BBS2):c.55G>C (p.Val19Leu)
|
|
|
NM_031885.5(BBS2):c.566G>A (p.Arg189Gln)
|
|
|
NM_031885.5(BBS2):c.620C>T (p.Thr207Ile)
|
|
|
NM_031885.5(BBS2):c.636G>A (p.Met212Ile)
|
rs1461732222
|
|
NM_031885.5(BBS2):c.651T>G (p.Phe217Leu)
|
rs2144163118
|
|
NM_031885.5(BBS2):c.661C>T (p.Leu221Phe)
|
rs2144163050
|
|
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro)
|
rs1597020018
|
|
NM_031885.5(BBS2):c.668A>G (p.Asn223Ser)
|
|
|
NM_031885.5(BBS2):c.674C>G (p.Thr225Arg)
|
|
|
NM_031885.5(BBS2):c.685T>G (p.Tyr229Asp)
|
rs778543585
|
|
NM_031885.5(BBS2):c.68G>C (p.Arg23Pro)
|
rs1162842645
|
|
NM_031885.5(BBS2):c.68G>T (p.Arg23Leu)
|
rs1162842645
|
|
NM_031885.5(BBS2):c.701G>A (p.Arg234Gln)
|
|
|
NM_031885.5(BBS2):c.706T>C (p.Trp236Arg)
|
rs2144162792
|
|
NM_031885.5(BBS2):c.710G>A (p.Arg237Lys)
|
|
|
NM_031885.5(BBS2):c.719C>T (p.Ser240Leu)
|
|
|
NM_031885.5(BBS2):c.764A>C (p.Asp255Ala)
|
rs1436713218
|
|
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg)
|
rs886052147
|
|
NM_031885.5(BBS2):c.770T>A (p.Val257Glu)
|
|
|
NM_031885.5(BBS2):c.806T>C (p.Val269Ala)
|
rs886039797
|
|
NM_031885.5(BBS2):c.812C>T (p.Ala271Val)
|
|
|
NM_031885.5(BBS2):c.815G>A (p.Arg272Gln)
|
|
|
NM_031885.5(BBS2):c.838A>G (p.Ile280Val)
|
|
|
NM_031885.5(BBS2):c.871G>A (p.Gly291Ser)
|
|
|
NM_031885.5(BBS2):c.878T>C (p.Val293Ala)
|
|
|
NM_031885.5(BBS2):c.892C>T (p.Arg298Trp)
|
|
|
NM_031885.5(BBS2):c.897G>C (p.Met299Ile)
|
rs759147772
|
|
NM_031885.5(BBS2):c.898G>T (p.Asp300Tyr)
|
|
|
NM_031885.5(BBS2):c.8T>A (p.Leu3Gln)
|
rs1964870972
|
|
NM_031885.5(BBS2):c.8T>C (p.Leu3Pro)
|
rs1964870972
|
|
NM_031885.5(BBS2):c.913T>G (p.Leu305Val)
|
rs1964310691
|
|
NM_031885.5(BBS2):c.916A>G (p.Ile306Val)
|
rs1964310396
|
|
NM_031885.5(BBS2):c.940+3A>C
|
rs2144150079
|
|
NM_031885.5(BBS2):c.946G>T (p.Gly316Cys)
|
|
|
NM_031885.5(BBS2):c.962C>A (p.Thr321Lys)
|
rs758548498
|
|
NM_031885.5(BBS2):c.974G>A (p.Arg325Lys)
|
rs1964301074
|
|
NM_031885.5(BBS2):c.983T>A (p.Leu328His)
|
rs753806664
|
|
NM_031885.5(BBS2):c.983T>C (p.Leu328Pro)
|
|
|
NM_031885.5(BBS2):c.992C>A (p.Thr331Asn)
|
|
|
NM_031885.5(BBS2):c.992C>G (p.Thr331Ser)
|
rs2144148951
|
|
NM_031885.5(BBS2):c.992C>T (p.Thr331Ile)
|
|
|
NM_031885.5(BBS2):c.994A>G (p.Ser332Gly)
|
rs576081735
|
|
NM_031924.8(RSPH3):c.-126C>A
|
|
|
NM_031924.8(RSPH3):c.-138C>G
|
|
|
NM_031924.8(RSPH3):c.-203G>C
|
|
|
NM_031924.8(RSPH3):c.-219G>A
|
rs753412130
|
|
NM_031924.8(RSPH3):c.-222C>T
|
rs752628369
|
|
NM_031924.8(RSPH3):c.-224C>A
|
rs371925841
|
|
NM_031924.8(RSPH3):c.-293C>G
|
|
|
NM_031924.8(RSPH3):c.-306C>G
|
|
|
NM_031924.8(RSPH3):c.-345G>A
|
|
|
NM_031924.8(RSPH3):c.-345G>C
|
|
|
NM_031924.8(RSPH3):c.-356G>T
|
|
|
NM_031924.8(RSPH3):c.-357G>A
|
|
|
NM_031924.8(RSPH3):c.-362A>G
|
rs2114734672
|
|
NM_031924.8(RSPH3):c.-374G>A
|
rs778661797
|
|
NM_031924.8(RSPH3):c.-374G>C
|
rs778661797
|
|
NM_031924.8(RSPH3):c.-375C>G
|
|
|
NM_031924.8(RSPH3):c.-381G>A
|
rs1434199814
|
|
NM_031924.8(RSPH3):c.-389G>C
|
|
|
NM_031924.8(RSPH3):c.-396C>G
|
|
|
NM_031924.8(RSPH3):c.-405G>A
|
|
|
NM_031924.8(RSPH3):c.-81C>G
|
rs2114733021
|
|
NM_031924.8(RSPH3):c.1039G>T (p.Gly347Cys)
|
rs147001164
|
|
NM_031924.8(RSPH3):c.1046dup (p.Ala350fs)
|
rs1777895913
|
|
NM_031924.8(RSPH3):c.1048_1049insGTC (p.Ala350delinsGlyPro)
|
rs1777895627
|
|
NM_031924.8(RSPH3):c.1078T>C (p.Phe360Leu)
|
rs2128605197
|
|
NM_031924.8(RSPH3):c.1086G>C (p.Glu362Asp)
|
rs374887740
|
|
NM_031924.8(RSPH3):c.1141A>G (p.Thr381Ala)
|
|
|
NM_031924.8(RSPH3):c.1146A>G (p.Thr382=)
|
rs1777890931
|
|
NM_031924.8(RSPH3):c.116+3G>A
|
rs1554291596
|
|
NM_031924.8(RSPH3):c.1173del (p.Lys392fs)
|
|
|
NM_031924.8(RSPH3):c.1237G>A (p.Gly413Arg)
|
rs770058050
|
|
NM_031924.8(RSPH3):c.149T>C (p.Met50Thr)
|
|
|
NM_031924.8(RSPH3):c.170G>A (p.Arg57Gln)
|
|
|
NM_031924.8(RSPH3):c.179C>G (p.Thr60Ser)
|
|
|
NM_031924.8(RSPH3):c.203T>A (p.Leu68Gln)
|
|
|
NM_031924.8(RSPH3):c.221C>G (p.Ser74Cys)
|
|
|
NM_031924.8(RSPH3):c.241C>T (p.Arg81Trp)
|
|
|
NM_031924.8(RSPH3):c.313G>A (p.Val105Met)
|
rs1778236429
|
|
NM_031924.8(RSPH3):c.436C>G (p.Leu146Val)
|
|
|
NM_031924.8(RSPH3):c.458G>A (p.Gly153Asp)
|
|
|
NM_031924.8(RSPH3):c.492+4C>T
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|
NM_031924.8(RSPH3):c.493-8T>A
|
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|
NM_031924.8(RSPH3):c.529G>A (p.Glu177Lys)
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|
|
NM_031924.8(RSPH3):c.531A>C (p.Glu177Asp)
|
rs2128606685
|
|
NM_031924.8(RSPH3):c.546G>T (p.Lys182Asn)
|
rs775524601
|
|
NM_031924.8(RSPH3):c.547A>G (p.Thr183Ala)
|
rs1166371359
|
|
NM_031924.8(RSPH3):c.548C>A (p.Thr183Lys)
|
|
|
NM_031924.8(RSPH3):c.620A>G (p.Tyr207Cys)
|
rs1562560893
|
|
NM_031924.8(RSPH3):c.628C>A (p.Leu210Ile)
|
|
|
NM_031924.8(RSPH3):c.636T>G (p.Asn212Lys)
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|
|
NM_031924.8(RSPH3):c.644G>A (p.Arg215His)
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|
NM_031924.8(RSPH3):c.732C>A (p.His244Gln)
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|
|
NM_031924.8(RSPH3):c.739_741del (p.Asn247del)
|
rs1583704831
|
|
NM_031924.8(RSPH3):c.781C>T (p.Arg261Cys)
|
rs755422448
|
|
NM_031924.8(RSPH3):c.799C>T (p.Leu267Phe)
|
|
|
NM_031924.8(RSPH3):c.812T>C (p.Phe271Ser)
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|
|
NM_031924.8(RSPH3):c.824G>C (p.Arg275Thr)
|
rs770525375
|
|
NM_031924.8(RSPH3):c.907dup (p.Thr303fs)
|
rs2128605420
|
|
NM_031924.8(RSPH3):c.940C>T (p.Leu314Phe)
|
rs1562558137
|
|
NM_031924.8(RSPH3):c.950T>C (p.Leu317Ser)
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|
|
NM_031924.8(RSPH3):c.986A>G (p.Tyr329Cys)
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|
|
NM_033028.5(BBS4):c.*1_*2delGA
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NM_033028.5(BBS4):c.*1_*3delGAA
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NM_033028.5(BBS4):c.1013G>T (p.Gly338Val)
|
rs750983167
|
|
NM_033028.5(BBS4):c.1027C>A (p.Leu343Ile)
|
rs758032659
|
|
NM_033028.5(BBS4):c.1032G>C (p.Leu344Phe)
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|
|
NM_033028.5(BBS4):c.1039G>A (p.Ala347Thr)
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|
|
NM_033028.5(BBS4):c.1063G>C (p.Glu355Gln)
|
rs1478448702
|
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NM_033028.5(BBS4):c.1076G>C (p.Arg359Thr)
|
rs367767132
|
|
NM_033028.5(BBS4):c.10G>A (p.Glu4Lys)
|
rs1336636537
|
|
NM_033028.5(BBS4):c.10G>C (p.Glu4Gln)
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|
NM_033028.5(BBS4):c.1107-10_1107-7del
|
rs770577174
|
|
NM_033028.5(BBS4):c.1133A>G (p.Tyr378Cys)
|
rs766266805
|
|
NM_033028.5(BBS4):c.1159G>A (p.Glu387Lys)
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|
|
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del)
|
rs759315856
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NM_033028.5(BBS4):c.1166A>G (p.Lys389Arg)
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|
NM_033028.5(BBS4):c.116T>C (p.Ile39Thr)
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NM_033028.5(BBS4):c.1183T>C (p.Tyr395His)
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|
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NM_033028.5(BBS4):c.1197GAA[1] (p.Lys401del)
|
rs1414925501
|
|
NM_033028.5(BBS4):c.1200G>C (p.Lys400Asn)
|
rs1295583634
|
|
NM_033028.5(BBS4):c.1226G>T (p.Ser409Ile)
|
|
|
NM_033028.5(BBS4):c.1248+4T>C
|
rs2065914727
|
|
NM_033028.5(BBS4):c.1248G>A (p.Glu416=)
|
rs914591602
|
|
NM_033028.5(BBS4):c.1287G>T (p.Gln429His)
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|
|
NM_033028.5(BBS4):c.1289T>G (p.Val430Gly)
|
rs767070801
|
|
NM_033028.5(BBS4):c.1294del (p.Glu432fs)
|
rs912967826
|
|
NM_033028.5(BBS4):c.1306T>G (p.Trp436Gly)
|
rs2151057022
|
|
NM_033028.5(BBS4):c.1325A>G (p.Asp442Gly)
|
rs753145823
|
|
NM_033028.5(BBS4):c.133C>T (p.Arg45Trp)
|
|
|
NM_033028.5(BBS4):c.1340A>C (p.His447Pro)
|
rs1419223053
|
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NM_033028.5(BBS4):c.1369A>G (p.Ser457Gly)
|
rs773209808
|
|
NM_033028.5(BBS4):c.1388G>C (p.Gly463Ala)
|
|
|
NM_033028.5(BBS4):c.1390T>C (p.Ser464Pro)
|
rs776847398
|
|
NM_033028.5(BBS4):c.1405G>C (p.Gly469Arg)
|
|
|
NM_033028.5(BBS4):c.1409A>T (p.Gln470Leu)
|
rs2065937102
|
|
NM_033028.5(BBS4):c.1414A>C (p.Met472Leu)
|
rs2277596
|
|
NM_033028.5(BBS4):c.1450+2_1450+5del
|
rs1287237832
|
|
NM_033028.5(BBS4):c.1450G>A (p.Gly484Ser)
|
rs2065938048
|
|
NM_033028.5(BBS4):c.1456G>A (p.Gly486Arg)
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|
|
NM_033028.5(BBS4):c.1459G>C (p.Gly487Arg)
|
rs2151058260
|
|
NM_033028.5(BBS4):c.1468C>T (p.Gln490Ter)
|
|
|
NM_033028.5(BBS4):c.1483C>T (p.Pro495Ser)
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NM_033028.5(BBS4):c.1493del (p.Pro498fs)
|
rs777455492
|
|
NM_033028.5(BBS4):c.1506G>T (p.Glu502Asp)
|
|
|
NM_033028.5(BBS4):c.1510G>A (p.Ala504Thr)
|
|
|
NM_033028.5(BBS4):c.1517A>T (p.Glu506Val)
|
rs1278438729
|
|
NM_033028.5(BBS4):c.1541A>G (p.Glu514Gly)
|
rs2065950720
|
|
NM_033028.5(BBS4):c.1549_1551del (p.Arg517del)
|
|
|
NM_033028.5(BBS4):c.1554_1555del (p.Lys519fs)
|
rs1463405501
|
|
NM_033028.5(BBS4):c.156+4A>G
|
|
|
NM_033028.5(BBS4):c.157-20C>T
|
rs2151019478
|
|
NM_033028.5(BBS4):c.16G>A (p.Val6Ile)
|
|
|
NM_033028.5(BBS4):c.19G>A (p.Ala7Thr)
|
rs2064831111
|
|
NM_033028.5(BBS4):c.19G>C (p.Ala7Pro)
|
rs2064831111
|
|
NM_033028.5(BBS4):c.20C>G (p.Ala7Gly)
|
|
|
NM_033028.5(BBS4):c.220+3A>G
|
|
|
NM_033028.5(BBS4):c.220+3A>T
|
rs376143305
|
|
NM_033028.5(BBS4):c.226A>G (p.Ile76Val)
|
|
|
NM_033028.5(BBS4):c.240A>C (p.Glu80Asp)
|
rs745338483
|
|
NM_033028.5(BBS4):c.248T>G (p.Ile83Ser)
|
rs1567415169
|
|
NM_033028.5(BBS4):c.252A>T (p.Gln84His)
|
rs2065448650
|
|
NM_033028.5(BBS4):c.255A>C (p.Glu85Asp)
|
|
|
NM_033028.5(BBS4):c.276A>G (p.Thr92=)
|
rs2151023356
|
|
NM_033028.5(BBS4):c.317A>G (p.Gln106Arg)
|
rs139038321
|
|
NM_033028.5(BBS4):c.327A>T (p.Arg109Ser)
|
|
|
NM_033028.5(BBS4):c.332+2dup
|
rs753360929
|
|
NM_033028.5(BBS4):c.333-13A>G
|
|
|
NM_033028.5(BBS4):c.349C>T (p.His117Tyr)
|
rs765399591
|
|
NM_033028.5(BBS4):c.385A>G (p.Lys129Glu)
|
|
|
NM_033028.5(BBS4):c.403T>A (p.Trp135Arg)
|
rs768304898
|
|
NM_033028.5(BBS4):c.428T>A (p.Val143Asp)
|
rs2065601390
|
|
NM_033028.5(BBS4):c.434A>G (p.Tyr145Cys)
|
|
|
NM_033028.5(BBS4):c.435C>T (p.Tyr145=)
|
|
|
NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn)
|
rs781691906
|
|
NM_033028.5(BBS4):c.443T>A (p.Leu148Gln)
|
|
|
NM_033028.5(BBS4):c.463C>A (p.Gln155Lys)
|
rs147391634
|
|
NM_033028.5(BBS4):c.502G>A (p.Asp168Asn)
|
rs769766779
|
|
NM_033028.5(BBS4):c.502G>T (p.Asp168Tyr)
|
|
|
NM_033028.5(BBS4):c.530T>G (p.Ile177Ser)
|
rs1341828921
|
|
NM_033028.5(BBS4):c.548A>G (p.Asp183Gly)
|
rs751216768
|
|
NM_033028.5(BBS4):c.562A>G (p.Ile188Val)
|
rs2151034404
|
|
NM_033028.5(BBS4):c.566A>T (p.Glu189Val)
|
|
|
NM_033028.5(BBS4):c.572A>G (p.Tyr191Cys)
|
rs756915341
|
|
NM_033028.5(BBS4):c.596C>T (p.Pro199Leu)
|
|
|
NM_033028.5(BBS4):c.617C>A (p.Thr206Lys)
|
|
|
NM_033028.5(BBS4):c.619A>G (p.Thr207Ala)
|
rs558382374
|
|
NM_033028.5(BBS4):c.629T>C (p.Leu210Ser)
|
|
|
NM_033028.5(BBS4):c.631C>T (p.Leu211Phe)
|
rs1567426035
|
|
NM_033028.5(BBS4):c.683C>T (p.Ala228Val)
|
rs2151043996
|
|
NM_033028.5(BBS4):c.701C>A (p.Thr234Asn)
|
rs2151044050
|
|
NM_033028.5(BBS4):c.740A>G (p.Gln247Arg)
|
rs746471801
|
|
NM_033028.5(BBS4):c.770C>G (p.Thr257Ser)
|
|
|
NM_033028.5(BBS4):c.775T>A (p.Tyr259Asn)
|
|
|
NM_033028.5(BBS4):c.776A>T (p.Tyr259Phe)
|
rs146595193
|
|
NM_033028.5(BBS4):c.77C>T (p.Ala26Val)
|
rs2151016128
|
|
NM_033028.5(BBS4):c.797T>G (p.Val266Gly)
|
|
|
NM_033028.5(BBS4):c.821A>G (p.Asn274Ser)
|
|
|
NM_033028.5(BBS4):c.85T>G (p.Phe29Val)
|
|
|
NM_033028.5(BBS4):c.863C>A (p.Ala288Glu)
|
|
|
NM_033028.5(BBS4):c.865-3T>C
|
|
|
NM_033028.5(BBS4):c.906_907inv (p.Asp303Asn)
|
|
|
NM_033028.5(BBS4):c.947C>T (p.Thr316Ile)
|
|
|
NM_033028.5(BBS4):c.956A>G (p.Gln319Arg)
|
rs1595948085
|
|
NM_033028.5(BBS4):c.961G>C (p.Ala321Pro)
|
|
|
NM_033028.5(BBS4):c.988G>A (p.Ala330Thr)
|
rs2065827621
|
|
NM_033028.5(BBS4):c.991A>G (p.Ile331Val)
|
rs1316841175
|
|
NM_033028.5(BBS4):c.991A>T (p.Ile331Phe)
|
|
|
NM_033028.5(BBS4):c.994A>G (p.Asn332Asp)
|
rs2065827783
|
|
NM_033028.5(BBS4):c.998T>A (p.Phe333Tyr)
|
|
|
NM_033124.5(CCDC65):c.*2dup (p.Ter485=)
|
rs2137550413
|
|
NM_033124.5(CCDC65):c.1022A>G (p.Asp341Gly)
|
|
|
NM_033124.5(CCDC65):c.1075G>A (p.Glu359Lys)
|
|
|
NM_033124.5(CCDC65):c.1096T>C (p.Phe366Leu)
|
|
|
NM_033124.5(CCDC65):c.1155A>C (p.Glu385Asp)
|
|
|
NM_033124.5(CCDC65):c.1179G>A (p.Lys393=)
|
rs2137549768
|
|
NM_033124.5(CCDC65):c.1247T>C (p.Leu416Pro)
|
|
|
NM_033124.5(CCDC65):c.1337_1340del (p.Ser446fs)
|
rs1939825876
|
|
NM_033124.5(CCDC65):c.1342G>A (p.Glu448Lys)
|
|
|
NM_033124.5(CCDC65):c.1370_1371del (p.Phe457fs)
|
rs1060503167
|
|
NM_033124.5(CCDC65):c.1441C>T (p.His481Tyr)
|
rs1452755503
|
|
NM_033124.5(CCDC65):c.144_164del (p.Lys49_Ala55del)
|
rs1187237772
|
|
NM_033124.5(CCDC65):c.147GGA[1] (p.Glu51del)
|
rs770163530
|
|
NM_033124.5(CCDC65):c.155A>C (p.His52Pro)
|
|
|
NM_033124.5(CCDC65):c.159C>G (p.Asn53Lys)
|
rs533380794
|
|
NM_033124.5(CCDC65):c.208C>T (p.Arg70Trp)
|
|
|
NM_033124.5(CCDC65):c.260C>T (p.Thr87Ile)
|
|
|
NM_033124.5(CCDC65):c.293T>C (p.Val98Ala)
|
|
|
NM_033124.5(CCDC65):c.2T>A (p.Met1Lys)
|
rs1939435183
|
|
NM_033124.5(CCDC65):c.300+5G>A
|
rs1939451798
|
|
NM_033124.5(CCDC65):c.315C>A (p.Asp105Glu)
|
|
|
NM_033124.5(CCDC65):c.322G>A (p.Glu108Lys)
|
rs763737404
|
|
NM_033124.5(CCDC65):c.340G>C (p.Ala114Pro)
|
|
|
NM_033124.5(CCDC65):c.347C>T (p.Ala116Val)
|
rs563337831
|
|
NM_033124.5(CCDC65):c.352C>T (p.Arg118Cys)
|
|
|
NM_033124.5(CCDC65):c.356G>A (p.Ser119Asn)
|
rs2088474089
|
|
NM_033124.5(CCDC65):c.399C>G (p.His133Gln)
|
|
|
NM_033124.5(CCDC65):c.400C>T (p.Arg134Trp)
|
|
|
NM_033124.5(CCDC65):c.401G>C (p.Arg134Pro)
|
|
|
NM_033124.5(CCDC65):c.535G>A (p.Glu179Lys)
|
rs1939705595
|
|
NM_033124.5(CCDC65):c.55C>A (p.Leu19Ile)
|
|
|
NM_033124.5(CCDC65):c.586A>G (p.Met196Val)
|
rs1213698808
|
|
NM_033124.5(CCDC65):c.609G>A (p.Met203Ile)
|
rs1371178815
|
|
NM_033124.5(CCDC65):c.657AGA[1] (p.Glu220del)
|
rs2137545852
|
|
NM_033124.5(CCDC65):c.719G>A (p.Arg240Gln)
|
|
|
NM_033124.5(CCDC65):c.807+5G>A
|
rs1939741975
|
|
NM_033124.5(CCDC65):c.816A>G (p.Ile272Met)
|
rs1448195838
|
|
NM_033124.5(CCDC65):c.823T>G (p.Ser275Ala)
|
rs1952389157
|
|
NM_033124.5(CCDC65):c.835A>T (p.Ile279Phe)
|
|
|
NM_033124.5(CCDC65):c.844C>T (p.His282Tyr)
|
rs1488626886
|
|
NM_033124.5(CCDC65):c.872G>A (p.Arg291Gln)
|
|
|
NM_033124.5(CCDC65):c.88G>A (p.Glu30Lys)
|
|
|
NM_033124.5(CCDC65):c.8A>G (p.Lys3Arg)
|
|
|
NM_033124.5(CCDC65):c.904G>A (p.Val302Ile)
|
|
|
NM_033124.5(CCDC65):c.944G>A (p.Arg315Gln)
|
|
|
NM_033124.5(CCDC65):c.957GAA[1] (p.Lys320del)
|
|
|
NM_052844.4(DYNC2I2):c.1003G>T (p.Val335Leu)
|
|
|
NM_052844.4(DYNC2I2):c.1024T>C (p.Phe342Leu)
|
|
|
NM_052844.4(DYNC2I2):c.1063G>C (p.Glu355Gln)
|
|
|
NM_052844.4(DYNC2I2):c.1069G>A (p.Gly357Ser)
|
rs769501856
|
|
NM_052844.4(DYNC2I2):c.1072T>G (p.Phe358Val)
|
rs2132139382
|
|
NM_052844.4(DYNC2I2):c.1076C>T (p.Pro359Leu)
|
|
|
NM_052844.4(DYNC2I2):c.1097C>G (p.Ala366Gly)
|
|
|
NM_052844.4(DYNC2I2):c.1099G>A (p.Gly367Arg)
|
rs1344384758
|
|
NM_052844.4(DYNC2I2):c.1108G>T (p.Ala370Ser)
|
|
|
NM_052844.4(DYNC2I2):c.1112T>G (p.Leu371Arg)
|
|
|
NM_052844.4(DYNC2I2):c.1114A>T (p.Thr372Ser)
|
rs1589428189
|
|
NM_052844.4(DYNC2I2):c.1115C>T (p.Thr372Met)
|
|
|
NM_052844.4(DYNC2I2):c.1118G>A (p.Arg373Gln)
|
|
|
NM_052844.4(DYNC2I2):c.1118G>T (p.Arg373Leu)
|
rs201326058
|
|
NM_052844.4(DYNC2I2):c.1135C>T (p.Pro379Ser)
|
|
|
NM_052844.4(DYNC2I2):c.1141C>T (p.Arg381Trp)
|
|
|
NM_052844.4(DYNC2I2):c.1155G>C (p.Gln385His)
|
|
|
NM_052844.4(DYNC2I2):c.1165_1167del (p.Ser389del)
|
|
|
NM_052844.4(DYNC2I2):c.1169C>G (p.Pro390Arg)
|
|
|
NM_052844.4(DYNC2I2):c.116A>G (p.Gln39Arg)
|
rs1000127877
|
|
NM_052844.4(DYNC2I2):c.1171C>A (p.His391Asn)
|
|
|
NM_052844.4(DYNC2I2):c.1171C>G (p.His391Asp)
|
rs537004785
|
|
NM_052844.4(DYNC2I2):c.1171C>T (p.His391Tyr)
|
|
|
NM_052844.4(DYNC2I2):c.1178G>A (p.Gly393Asp)
|
|
|
NM_052844.4(DYNC2I2):c.1186T>C (p.Tyr396His)
|
|
|
NM_052844.4(DYNC2I2):c.1189T>C (p.Ser397Pro)
|
|
|
NM_052844.4(DYNC2I2):c.1191T>A (p.Ser397=)
|
|
|
NM_052844.4(DYNC2I2):c.1201T>C (p.Ser401Pro)
|
|
|
NM_052844.4(DYNC2I2):c.1212C>T (p.His404=)
|
|
|
NM_052844.4(DYNC2I2):c.1214+5G>A
|
|
|
NM_052844.4(DYNC2I2):c.123G>C (p.Glu41Asp)
|
|
|
NM_052844.4(DYNC2I2):c.1241A>G (p.Asp414Gly)
|
rs2132136694
|
|
NM_052844.4(DYNC2I2):c.1244G>A (p.Gly415Glu)
|
rs2132136665
|
|
NM_052844.4(DYNC2I2):c.1249G>A (p.Val417Ile)
|
|
|
NM_052844.4(DYNC2I2):c.1256T>G (p.Leu419Arg)
|
|
|
NM_052844.4(DYNC2I2):c.1264A>G (p.Met422Val)
|
|
|
NM_052844.4(DYNC2I2):c.1291C>A (p.Leu431Met)
|
|
|
NM_052844.4(DYNC2I2):c.1297C>G (p.Leu433Val)
|
|
|
NM_052844.4(DYNC2I2):c.130G>T (p.Gly44Cys)
|
|
|
NM_052844.4(DYNC2I2):c.1321G>A (p.Val441Met)
|
|
|
NM_052844.4(DYNC2I2):c.1325G>A (p.Arg442His)
|
|
|
NM_052844.4(DYNC2I2):c.1336G>T (p.Val446Leu)
|
rs746286697
|
|
NM_052844.4(DYNC2I2):c.133G>A (p.Val45Met)
|
|
|
NM_052844.4(DYNC2I2):c.1354G>C (p.Ala452Pro)
|
rs2132135903
|
|
NM_052844.4(DYNC2I2):c.1355C>T (p.Ala452Val)
|
|
|
NM_052844.4(DYNC2I2):c.1357G>A (p.Ala453Thr)
|
|
|
NM_052844.4(DYNC2I2):c.1360G>A (p.Ala454Thr)
|
|
|
NM_052844.4(DYNC2I2):c.1361C>G (p.Ala454Gly)
|
|
|
NM_052844.4(DYNC2I2):c.1372+5del
|
rs772722096
|
|
NM_052844.4(DYNC2I2):c.137C>T (p.Ala46Val)
|
rs1234829068
|
|
NM_052844.4(DYNC2I2):c.140C>G (p.Ser47Cys)
|
rs1860830386
|
|
NM_052844.4(DYNC2I2):c.140C>T (p.Ser47Phe)
|
|
|
NM_052844.4(DYNC2I2):c.1412A>G (p.Lys471Arg)
|
rs2132131817
|
|
NM_052844.4(DYNC2I2):c.1417A>C (p.Thr473Pro)
|
|
|
NM_052844.4(DYNC2I2):c.1429A>G (p.Lys477Glu)
|
rs2132131357
|
|
NM_052844.4(DYNC2I2):c.1449C>A (p.Ser483Arg)
|
rs1445564979
|
|
NM_052844.4(DYNC2I2):c.1453G>A (p.Val485Ile)
|
rs375843859
|
|
NM_052844.4(DYNC2I2):c.1456T>C (p.Tyr486His)
|
|
|
NM_052844.4(DYNC2I2):c.1457A>G (p.Tyr486Cys)
|
|
|
NM_052844.4(DYNC2I2):c.1496C>T (p.Ala499Val)
|
|
|
NM_052844.4(DYNC2I2):c.14C>A (p.Ala5Glu)
|
rs544655044
|
|
NM_052844.4(DYNC2I2):c.1520T>C (p.Val507Ala)
|
|
|
NM_052844.4(DYNC2I2):c.1541C>T (p.Thr514Ile)
|
|
|
NM_052844.4(DYNC2I2):c.1558G>A (p.Gly520Arg)
|
|
|
NM_052844.4(DYNC2I2):c.1564C>G (p.Arg522Gly)
|
|
|
NM_052844.4(DYNC2I2):c.1570G>A (p.Ala524Thr)
|
rs752702804
|
|
NM_052844.4(DYNC2I2):c.158G>A (p.Arg53Lys)
|
|
|
NM_052844.4(DYNC2I2):c.159G>T (p.Arg53Ser)
|
|
|
NM_052844.4(DYNC2I2):c.1604C>T (p.Ala535Val)
|
rs758735687
|
|
NM_052844.4(DYNC2I2):c.1607C>T (p.Ala536Val)
|
|
|
NM_052844.4(DYNC2I2):c.173T>C (p.Ile58Thr)
|
rs763670176
|
|
NM_052844.4(DYNC2I2):c.17A>C (p.Gln6Pro)
|
|
|
NM_052844.4(DYNC2I2):c.182A>G (p.Glu61Gly)
|
|
|
NM_052844.4(DYNC2I2):c.186G>A (p.Thr62=)
|
|
|
NM_052844.4(DYNC2I2):c.188A>G (p.Lys63Arg)
|
|
|
NM_052844.4(DYNC2I2):c.200C>T (p.Thr67Met)
|
|
|
NM_052844.4(DYNC2I2):c.215C>T (p.Thr72Ile)
|
|
|
NM_052844.4(DYNC2I2):c.218C>A (p.Ala73Asp)
|
|
|
NM_052844.4(DYNC2I2):c.253G>A (p.Ala85Thr)
|
|
|
NM_052844.4(DYNC2I2):c.26C>A (p.Pro9Gln)
|
rs748839336
|
|
NM_052844.4(DYNC2I2):c.280C>T (p.Pro94Ser)
|
rs1860501994
|
|
NM_052844.4(DYNC2I2):c.295C>G (p.Pro99Ala)
|
|
|
NM_052844.4(DYNC2I2):c.295C>T (p.Pro99Ser)
|
|
|
NM_052844.4(DYNC2I2):c.296C>T (p.Pro99Leu)
|
rs2132156076
|
|
NM_052844.4(DYNC2I2):c.309_310inv (p.Asp104Asn)
|
|
|
NM_052844.4(DYNC2I2):c.319A>G (p.Arg107Gly)
|
rs759672549
|
|
NM_052844.4(DYNC2I2):c.325G>T (p.Ala109Ser)
|
rs773435636
|
|
NM_052844.4(DYNC2I2):c.334C>A (p.Leu112Ile)
|
|
|
NM_052844.4(DYNC2I2):c.337C>T (p.Arg113Trp)
|
rs199920288
|
|
NM_052844.4(DYNC2I2):c.347_348delinsTT (p.Glu116Val)
|
|
|
NM_052844.4(DYNC2I2):c.37G>C (p.Ala13Pro)
|
rs1235612644
|
|
NM_052844.4(DYNC2I2):c.388C>T (p.His130Tyr)
|
rs765530543
|
|
NM_052844.4(DYNC2I2):c.38C>G (p.Ala13Gly)
|
|
|
NM_052844.4(DYNC2I2):c.421G>A (p.Glu141Lys)
|
|
|
NM_052844.4(DYNC2I2):c.424CAG[4] (p.Gln144dup)
|
rs2132155546
|
|
NM_052844.4(DYNC2I2):c.428A>C (p.Gln143Pro)
|
|
|
NM_052844.4(DYNC2I2):c.433A>G (p.Met145Val)
|
rs2132155527
|
|
NM_052844.4(DYNC2I2):c.436-3C>T
|
|
|
NM_052844.4(DYNC2I2):c.44G>A (p.Ser15Asn)
|
rs752793349
|
|
NM_052844.4(DYNC2I2):c.44G>C (p.Ser15Thr)
|
|
|
NM_052844.4(DYNC2I2):c.4G>A (p.Ala2Thr)
|
rs867246942
|
|
NM_052844.4(DYNC2I2):c.50G>A (p.Gly17Asp)
|
|
|
NM_052844.4(DYNC2I2):c.529G>T (p.Ala177Ser)
|
|
|
NM_052844.4(DYNC2I2):c.52G>A (p.Val18Ile)
|
|
|
NM_052844.4(DYNC2I2):c.546-3C>T
|
|
|
NM_052844.4(DYNC2I2):c.554A>T (p.His185Leu)
|
|
|
NM_052844.4(DYNC2I2):c.56C>T (p.Ala19Val)
|
|
|
NM_052844.4(DYNC2I2):c.571C>T (p.Leu191Phe)
|
|
|
NM_052844.4(DYNC2I2):c.604C>T (p.Arg202Trp)
|
|
|
NM_052844.4(DYNC2I2):c.629C>G (p.Pro210Arg)
|
|
|
NM_052844.4(DYNC2I2):c.629C>T (p.Pro210Leu)
|
rs780689247
|
|
NM_052844.4(DYNC2I2):c.632C>T (p.Ser211Leu)
|
|
|
NM_052844.4(DYNC2I2):c.654C>G (p.Ser218Arg)
|
rs750407126
|
|
NM_052844.4(DYNC2I2):c.655G>A (p.Ala219Thr)
|
|
|
NM_052844.4(DYNC2I2):c.671C>T (p.Ala224Val)
|
|
|
NM_052844.4(DYNC2I2):c.683C>T (p.Thr228Met)
|
|
|
NM_052844.4(DYNC2I2):c.697G>A (p.Val233Ile)
|
|
|
NM_052844.4(DYNC2I2):c.703+4A>G
|
|
|
NM_052844.4(DYNC2I2):c.704-26_704-14del
|
|
|
NM_052844.4(DYNC2I2):c.706G>A (p.Gly236Arg)
|
|
|
NM_052844.4(DYNC2I2):c.716G>T (p.Ser239Ile)
|
|
|
NM_052844.4(DYNC2I2):c.743G>A (p.Ser248Asn)
|
|
|
NM_052844.4(DYNC2I2):c.758C>T (p.Pro253Leu)
|
|
|
NM_052844.4(DYNC2I2):c.782C>T (p.Thr261Met)
|
|
|
NM_052844.4(DYNC2I2):c.791C>T (p.Thr264Ile)
|
|
|
NM_052844.4(DYNC2I2):c.806T>C (p.Val269Ala)
|
|
|
NM_052844.4(DYNC2I2):c.829G>A (p.Glu277Lys)
|
|
|
NM_052844.4(DYNC2I2):c.82A>G (p.Ser28Gly)
|
|
|
NM_052844.4(DYNC2I2):c.869C>T (p.Ala290Val)
|
|
|
NM_052844.4(DYNC2I2):c.871_873del (p.Thr291del)
|
|
|
NM_052844.4(DYNC2I2):c.903C>G (p.Ile301Met)
|
|
|
NM_052844.4(DYNC2I2):c.904G>A (p.Gly302Arg)
|
rs373253932
|
|
NM_052844.4(DYNC2I2):c.911G>T (p.Gly304Val)
|
rs1233100011
|
|
NM_052844.4(DYNC2I2):c.929A>G (p.Glu310Gly)
|
|
|
NM_052844.4(DYNC2I2):c.937G>A (p.Ala313Thr)
|
|
|
NM_052844.4(DYNC2I2):c.946A>T (p.Met316Leu)
|
|
|
NM_052844.4(DYNC2I2):c.952C>G (p.Gln318Glu)
|
|
|
NM_052844.4(DYNC2I2):c.95C>T (p.Pro32Leu)
|
|
|
NM_052844.4(DYNC2I2):c.965G>A (p.Ser322Asn)
|
|
|
NM_052844.4(DYNC2I2):c.981+4C>G
|
|
|
NM_080860.4(RSPH1):c.109C>T (p.Arg37Trp)
|
|
|
NM_080860.4(RSPH1):c.119A>G (p.Asn40Ser)
|
|
|
NM_080860.4(RSPH1):c.151G>A (p.Gly51Ser)
|
|
|
NM_080860.4(RSPH1):c.212A>G (p.Tyr71Cys)
|
|
|
NM_080860.4(RSPH1):c.240C>T (p.Gly80=)
|
rs2054248887
|
|
NM_080860.4(RSPH1):c.253C>T (p.Pro85Ser)
|
rs2146664507
|
|
NM_080860.4(RSPH1):c.317A>G (p.Tyr106Cys)
|
rs2054181407
|
|
NM_080860.4(RSPH1):c.325A>G (p.Asn109Asp)
|
|
|
NM_080860.4(RSPH1):c.326A>G (p.Asn109Ser)
|
|
|
NM_080860.4(RSPH1):c.340A>G (p.Thr114Ala)
|
rs764166547
|
|
NM_080860.4(RSPH1):c.358C>T (p.His120Tyr)
|
|
|
NM_080860.4(RSPH1):c.365+5G>A
|
|
|
NM_080860.4(RSPH1):c.39A>T (p.Gly13=)
|
rs2054286476
|
|
NM_080860.4(RSPH1):c.412G>A (p.Val138Ile)
|
|
|
NM_080860.4(RSPH1):c.433C>A (p.Gln145Lys)
|
rs778786028
|
|
NM_080860.4(RSPH1):c.446C>T (p.Thr149Met)
|
|
|
NM_080860.4(RSPH1):c.470A>G (p.His157Arg)
|
rs1226405216
|
|
NM_080860.4(RSPH1):c.474G>A (p.Arg158=)
|
|
|
NM_080860.4(RSPH1):c.598G>A (p.Glu200Lys)
|
|
|
NM_080860.4(RSPH1):c.624A>G (p.Lys208=)
|
rs1168301982
|
|
NM_080860.4(RSPH1):c.630A>C (p.Lys210Asn)
|
rs2054078912
|
|
NM_080860.4(RSPH1):c.638A>C (p.Gln213Pro)
|
rs1403144349
|
|
NM_080860.4(RSPH1):c.652G>A (p.Ala218Thr)
|
|
|
NM_080860.4(RSPH1):c.670C>G (p.Leu224Val)
|
rs375795708
|
|
NM_080860.4(RSPH1):c.670C>T (p.Leu224Phe)
|
rs375795708
|
|
NM_080860.4(RSPH1):c.695A>T (p.Asp232Val)
|
rs748503692
|
|
NM_080860.4(RSPH1):c.709G>A (p.Asp237Asn)
|
rs368695982
|
|
NM_080860.4(RSPH1):c.712G>A (p.Ala238Thr)
|
rs200745905
|
|
NM_080860.4(RSPH1):c.712G>C (p.Ala238Pro)
|
rs200745905
|
|
NM_080860.4(RSPH1):c.727+6G>A
|
|
|
NM_080860.4(RSPH1):c.727+6G>C
|
rs374688679
|
|
NM_080860.4(RSPH1):c.751G>T (p.Ala251Ser)
|
|
|
NM_080860.4(RSPH1):c.788A>G (p.Asp263Gly)
|
rs2054043796
|
|
NM_080860.4(RSPH1):c.812C>A (p.Ala271Glu)
|
|
|
NM_080860.4(RSPH1):c.847C>T (p.Gln283Ter)
|
rs2054042523
|
|
NM_080860.4(RSPH1):c.850GAG[1] (p.Glu285del)
|
rs562822292
|
|
NM_144596.4(TTC8):c.1022A>G (p.Gln341Arg)
|
rs2094927980
|
|
NM_144596.4(TTC8):c.1026A>G (p.Pro342=)
|
|
|
NM_144596.4(TTC8):c.1033G>A (p.Ala345Thr)
|
|
|
NM_144596.4(TTC8):c.1039C>T (p.Arg347Trp)
|
|
|
NM_144596.4(TTC8):c.104C>A (p.Pro35His)
|
rs2094691079
|
|
NM_144596.4(TTC8):c.1050G>T (p.Arg350Ser)
|
rs2094933981
|
|
NM_144596.4(TTC8):c.1069A>G (p.Ile357Val)
|
|
|
NM_144596.4(TTC8):c.1073A>T (p.Tyr358Phe)
|
rs951491897
|
|
NM_144596.4(TTC8):c.1084C>G (p.Leu362Val)
|
rs2094934211
|
|
NM_144596.4(TTC8):c.1102C>T (p.Leu368=)
|
|
|
NM_144596.4(TTC8):c.1118C>A (p.Ala373Asp)
|
rs768465465
|
|
NM_144596.4(TTC8):c.1124A>C (p.Gln375Pro)
|
rs774216735
|
|
NM_144596.4(TTC8):c.113A>G (p.Gln38Arg)
|
rs1224545398
|
|
NM_144596.4(TTC8):c.114+5C>T
|
|
|
NM_144596.4(TTC8):c.1147T>C (p.Phe383Leu)
|
rs2094934479
|
|
NM_144596.4(TTC8):c.114G>T (p.Gln38His)
|
rs2094691170
|
|
NM_144596.4(TTC8):c.1154G>A (p.Arg385His)
|
|
|
NM_144596.4(TTC8):c.1185G>C (p.Glu395Asp)
|
rs1375783683
|
|
NM_144596.4(TTC8):c.1214A>G (p.His405Arg)
|
|
|
NM_144596.4(TTC8):c.1234G>T (p.Asp412Tyr)
|
|
|
NM_144596.4(TTC8):c.1237A>C (p.Thr413Pro)
|
|
|
NM_144596.4(TTC8):c.1276AAC[3] (p.Asn429del)
|
rs750442302
|
|
NM_144596.4(TTC8):c.1276AAC[5] (p.Asn429dup)
|
rs750442302
|
|
NM_144596.4(TTC8):c.1277A>G (p.Asn426Ser)
|
|
|
NM_144596.4(TTC8):c.1285A>C (p.Asn429His)
|
|
|
NM_144596.4(TTC8):c.1324A>G (p.Met442Val)
|
rs1259630992
|
|
NM_144596.4(TTC8):c.1340T>C (p.Val447Ala)
|
|
|
NM_144596.4(TTC8):c.1360T>G (p.Leu454Val)
|
|
|
NM_144596.4(TTC8):c.1363C>G (p.Gln455Glu)
|
rs773278542
|
|
NM_144596.4(TTC8):c.1385C>G (p.Pro462Arg)
|
rs2141044395
|
|
NM_144596.4(TTC8):c.1388A>T (p.His463Leu)
|
rs2141044398
|
|
NM_144596.4(TTC8):c.1394A>G (p.Tyr465Cys)
|
|
|
NM_144596.4(TTC8):c.1418C>T (p.Thr473Ile)
|
rs762313028
|
|
NM_144596.4(TTC8):c.1423T>A (p.Ser475Thr)
|
rs2141044512
|
|
NM_144596.4(TTC8):c.1424C>T (p.Ser475Phe)
|
|
|
NM_144596.4(TTC8):c.1431+1G>T
|
rs779743153
|
|
NM_144596.4(TTC8):c.1431+3A>G
|
rs2094951653
|
|
NM_144596.4(TTC8):c.1432A>T (p.Ile478Phe)
|
rs753441040
|
|
NM_144596.4(TTC8):c.1441C>A (p.Leu481Met)
|
|
|
NM_144596.4(TTC8):c.1465C>T (p.Gln489Ter)
|
|
|
NM_144596.4(TTC8):c.1487C>T (p.Pro496Leu)
|
|
|
NM_144596.4(TTC8):c.1495G>A (p.Val499Met)
|
rs538188579
|
|
NM_144596.4(TTC8):c.1542G>T (p.Met514Ile)
|
rs571571526
|
|
NM_144596.4(TTC8):c.163G>A (p.Ala55Thr)
|
|
|
NM_144596.4(TTC8):c.172C>A (p.Leu58Ile)
|
|
|
NM_144596.4(TTC8):c.183G>A (p.Met61Ile)
|
|
|
NM_144596.4(TTC8):c.192A>G (p.Ile64Met)
|
|
|
NM_144596.4(TTC8):c.193G>A (p.Asp65Asn)
|
rs2094769718
|
|
NM_144596.4(TTC8):c.1A>G (p.Met1Val)
|
rs747906724
|
|
NM_144596.4(TTC8):c.1A>T (p.Met1Leu)
|
|
|
NM_144596.4(TTC8):c.221T>C (p.Ile74Thr)
|
rs2094769961
|
|
NM_144596.4(TTC8):c.224C>A (p.Ala75Glu)
|
|
|
NM_144596.4(TTC8):c.250A>G (p.Ile84Val)
|
|
|
NM_144596.4(TTC8):c.293G>A (p.Gly98Glu)
|
rs1566836961
|
|
NM_144596.4(TTC8):c.2T>C (p.Met1Thr)
|
rs776086794
|
|
NM_144596.4(TTC8):c.311G>A (p.Gly104Glu)
|
|
|
NM_144596.4(TTC8):c.313C>T (p.Pro105Ser)
|
rs2094777358
|
|
NM_144596.4(TTC8):c.329+4T>C
|
|
|
NM_144596.4(TTC8):c.332C>T (p.Pro111Leu)
|
rs2094778322
|
|
NM_144596.4(TTC8):c.336C>G (p.Ile112Met)
|
rs2140976682
|
|
NM_144596.4(TTC8):c.341A>G (p.Gln114Arg)
|
|
|
NM_144596.4(TTC8):c.34T>G (p.Trp12Gly)
|
rs2140944058
|
|
NM_144596.4(TTC8):c.370A>G (p.Arg124Gly)
|
|
|
NM_144596.4(TTC8):c.380C>A (p.Thr127Lys)
|
rs369803125
|
|
NM_144596.4(TTC8):c.380C>T (p.Thr127Met)
|
rs369803125
|
|
NM_144596.4(TTC8):c.383A>C (p.Gln128Pro)
|
rs2140976838
|
|
NM_144596.4(TTC8):c.384G>C (p.Gln128His)
|
|
|
NM_144596.4(TTC8):c.398G>A (p.Gly133Asp)
|
|
|
NM_144596.4(TTC8):c.410A>G (p.Gln137Arg)
|
rs1337021580
|
|
NM_144596.4(TTC8):c.415A>C (p.Ile139Leu)
|
rs766062841
|
|
NM_144596.4(TTC8):c.418A>G (p.Arg140Gly)
|
rs2140976960
|
|
NM_144596.4(TTC8):c.422C>A (p.Thr141Lys)
|
|
|
NM_144596.4(TTC8):c.429A>C (p.Arg143Ser)
|
rs1472731626
|
|
NM_144596.4(TTC8):c.430A>C (p.Thr144Pro)
|
|
|
NM_144596.4(TTC8):c.446G>T (p.Arg149Leu)
|
rs768271175
|
|
NM_144596.4(TTC8):c.470G>C (p.Arg157Thr)
|
rs754686957
|
|
NM_144596.4(TTC8):c.488C>T (p.Thr163Met)
|
rs758942370
|
|
NM_144596.4(TTC8):c.490G>A (p.Ala164Thr)
|
rs184952059
|
|
NM_144596.4(TTC8):c.506G>A (p.Ser169Asn)
|
|
|
NM_144596.4(TTC8):c.509C>T (p.Pro170Leu)
|
rs1006330985
|
|
NM_144596.4(TTC8):c.512A>G (p.Asp171Gly)
|
|
|
NM_144596.4(TTC8):c.514G>A (p.Gly172Arg)
|
|
|
NM_144596.4(TTC8):c.517C>T (p.Pro173Ser)
|
rs2140977797
|
|
NM_144596.4(TTC8):c.531A>T (p.Leu177Phe)
|
|
|
NM_144596.4(TTC8):c.573G>C (p.Leu191Phe)
|
|
|
NM_144596.4(TTC8):c.589G>C (p.Glu197Gln)
|
|
|
NM_144596.4(TTC8):c.5G>T (p.Ser2Ile)
|
|
|
NM_144596.4(TTC8):c.602A>G (p.His201Arg)
|
rs1328638709
|
|
NM_144596.4(TTC8):c.616G>A (p.Val206Ile)
|
|
|
NM_144596.4(TTC8):c.616_618del (p.Val206del)
|
rs1411331191
|
|
NM_144596.4(TTC8):c.62A>G (p.Gln21Arg)
|
rs2094690662
|
|
NM_144596.4(TTC8):c.62A>T (p.Gln21Leu)
|
rs2094690662
|
|
NM_144596.4(TTC8):c.630G>T (p.Leu210Phe)
|
rs2094839899
|
|
NM_144596.4(TTC8):c.659C>T (p.Ser220Phe)
|
rs2094840063
|
|
NM_144596.4(TTC8):c.662A>G (p.Gln221Arg)
|
|
|
NM_144596.4(TTC8):c.665A>G (p.Tyr222Cys)
|
rs1257221355
|
|
NM_144596.4(TTC8):c.676T>C (p.Trp226Arg)
|
rs2140999509
|
|
NM_144596.4(TTC8):c.700T>A (p.Cys234Ser)
|
|
|
NM_144596.4(TTC8):c.704A>G (p.Tyr235Cys)
|
rs1445461942
|
|
NM_144596.4(TTC8):c.710+4A>C
|
rs1352481954
|
|
NM_144596.4(TTC8):c.714G>A (p.Leu238=)
|
rs1435283670
|
|
NM_144596.4(TTC8):c.715G>C (p.Gly239Arg)
|
rs374351698
|
|
NM_144596.4(TTC8):c.720G>A (p.Met240Ile)
|
rs1051402043
|
|
NM_144596.4(TTC8):c.725G>A (p.Arg242His)
|
|
|
NM_144596.4(TTC8):c.727G>A (p.Glu243Lys)
|
rs1419727328
|
|
NM_144596.4(TTC8):c.73G>T (p.Asp25Tyr)
|
rs772967779
|
|
NM_144596.4(TTC8):c.749C>T (p.Ser250Leu)
|
rs943156593
|
|
NM_144596.4(TTC8):c.758A>G (p.Lys253Arg)
|
|
|
NM_144596.4(TTC8):c.776A>T (p.Asp259Val)
|
rs2141007421
|
|
NM_144596.4(TTC8):c.785T>C (p.Leu262Pro)
|
rs1459496188
|
|
NM_144596.4(TTC8):c.785T>G (p.Leu262Arg)
|
|
|
NM_144596.4(TTC8):c.79T>C (p.Cys27Arg)
|
rs2094690812
|
|
NM_144596.4(TTC8):c.814G>A (p.Asp272Asn)
|
|
|
NM_144596.4(TTC8):c.816T>A (p.Asp272Glu)
|
|
|
NM_144596.4(TTC8):c.83C>A (p.Thr28Lys)
|
rs1169043172
|
|
NM_144596.4(TTC8):c.857A>G (p.Asp286Gly)
|
|
|
NM_144596.4(TTC8):c.865C>T (p.Pro289Ser)
|
rs2141016153
|
|
NM_144596.4(TTC8):c.872A>G (p.Glu291Gly)
|
|
|
NM_144596.4(TTC8):c.878C>A (p.Thr293Asn)
|
rs1028407834
|
|
NM_144596.4(TTC8):c.890G>A (p.Gly297Glu)
|
|
|
NM_144596.4(TTC8):c.8C>G (p.Ser3Trp)
|
rs752229926
|
|
NM_144596.4(TTC8):c.8C>T (p.Ser3Leu)
|
rs752229926
|
|
NM_144596.4(TTC8):c.903C>G (p.Ile301Met)
|
|
|
NM_144596.4(TTC8):c.910-6G>A
|
|
|
NM_144596.4(TTC8):c.923T>C (p.Met308Thr)
|
rs2094927396
|
|
NM_144596.4(TTC8):c.935C>A (p.Ala312Glu)
|
rs1010519307
|
|
NM_144596.4(TTC8):c.943T>G (p.Tyr315Asp)
|
rs2094927520
|
|
NM_144596.4(TTC8):c.949G>A (p.Glu317Lys)
|
|
|
NM_144596.4(TTC8):c.964G>A (p.Asp322Asn)
|
rs2094927630
|
|
NM_144596.4(TTC8):c.976G>T (p.Val326Leu)
|
|
|
NM_144596.4(TTC8):c.983C>T (p.Ala328Val)
|
rs755533153
|
|
NM_145038.5(DRC1):c.1029-4C>G
|
rs2148000514
|
|
NM_145038.5(DRC1):c.1066_1067delinsAT (p.Ala356Ile)
|
rs1572379809
|
|
NM_145038.5(DRC1):c.1068_1069inv (p.Lys357Glu)
|
|
|
NM_145038.5(DRC1):c.106_120dup (p.Ile36_Arg40dup)
|
rs1678261374
|
|
NM_145038.5(DRC1):c.1090GAG[1] (p.Glu365del)
|
|
|
NM_145038.5(DRC1):c.1123C>A (p.Arg375Ser)
|
|
|
NM_145038.5(DRC1):c.1151A>C (p.Gln384Pro)
|
|
|
NM_145038.5(DRC1):c.115C>G (p.Arg39Gly)
|
rs778388067
|
|
NM_145038.5(DRC1):c.1160T>G (p.Met387Arg)
|
|
|
NM_145038.5(DRC1):c.1188G>T (p.Glu396Asp)
|
|
|
NM_145038.5(DRC1):c.1195_1196inv (p.Trp399Gln)
|
|
|
NM_145038.5(DRC1):c.1206G>C (p.Trp402Cys)
|
|
|
NM_145038.5(DRC1):c.1219G>A (p.Glu407Lys)
|
|
|
NM_145038.5(DRC1):c.1263G>C (p.Arg421Ser)
|
rs778963656
|
|
NM_145038.5(DRC1):c.1264A>G (p.Ile422Val)
|
|
|
NM_145038.5(DRC1):c.1286G>A (p.Gly429Glu)
|
|
|
NM_145038.5(DRC1):c.1338T>G (p.Ile446Met)
|
|
|
NM_145038.5(DRC1):c.134C>T (p.Ala45Val)
|
rs779282480
|
|
NM_145038.5(DRC1):c.1366C>A (p.Gln456Lys)
|
|
|
NM_145038.5(DRC1):c.1369A>T (p.Ile457Leu)
|
|
|
NM_145038.5(DRC1):c.1418C>A (p.Ala473Asp)
|
rs199574440
|
|
NM_145038.5(DRC1):c.1434G>T (p.Glu478Asp)
|
|
|
NM_145038.5(DRC1):c.1448T>C (p.Leu483Ser)
|
rs1663924677
|
|
NM_145038.5(DRC1):c.145G>T (p.Ala49Ser)
|
rs771727269
|
|
NM_145038.5(DRC1):c.1487T>G (p.Leu496Arg)
|
rs2148003720
|
|
NM_145038.5(DRC1):c.1503_1505del (p.Asp501del)
|
rs778078856
|
|
NM_145038.5(DRC1):c.1511G>A (p.Gly504Glu)
|
rs2148004449
|
|
NM_145038.5(DRC1):c.1511_1512delinsTA (p.Gly504Val)
|
rs2148004453
|
|
NM_145038.5(DRC1):c.1524G>C (p.Glu508Asp)
|
rs753664425
|
|
NM_145038.5(DRC1):c.155G>T (p.Arg52Leu)
|
|
|
NM_145038.5(DRC1):c.1612G>A (p.Glu538Lys)
|
|
|
NM_145038.5(DRC1):c.1631A>G (p.Tyr544Cys)
|
rs775900881
|
|
NM_145038.5(DRC1):c.1643A>T (p.Asn548Ile)
|
|
|
NM_145038.5(DRC1):c.1669C>T (p.Arg557Cys)
|
|
|
NM_145038.5(DRC1):c.1679C>T (p.Ser560Phe)
|
rs1663980286
|
|
NM_145038.5(DRC1):c.169G>C (p.Glu57Gln)
|
|
|
NM_145038.5(DRC1):c.178G>A (p.Asp60Asn)
|
|
|
NM_145038.5(DRC1):c.1801A>C (p.Ser601Arg)
|
rs1664059066
|
|
NM_145038.5(DRC1):c.1816_1818del (p.Glu606del)
|
|
|
NM_145038.5(DRC1):c.1825G>A (p.Glu609Lys)
|
rs1664060049
|
|
NM_145038.5(DRC1):c.1841C>T (p.Pro614Leu)
|
rs1664060879
|
|
NM_145038.5(DRC1):c.1849C>T (p.Pro617Ser)
|
rs1664062937
|
|
NM_145038.5(DRC1):c.1873G>A (p.Val625Ile)
|
|
|
NM_145038.5(DRC1):c.1897G>A (p.Val633Ile)
|
rs12623642
|
|
NM_145038.5(DRC1):c.1919G>A (p.Arg640Lys)
|
|
|
NM_145038.5(DRC1):c.1946A>C (p.Gln649Pro)
|
|
|
NM_145038.5(DRC1):c.1955T>G (p.Val652Gly)
|
rs752777750
|
|
NM_145038.5(DRC1):c.1967C>T (p.Ser656Phe)
|
rs2148007712
|
|
NM_145038.5(DRC1):c.2014T>C (p.Ser672Pro)
|
|
|
NM_145038.5(DRC1):c.2044A>G (p.Thr682Ala)
|
|
|
NM_145038.5(DRC1):c.2068G>A (p.Val690Ile)
|
rs1553345147
|
|
NM_145038.5(DRC1):c.2079_2086del (p.Arg694fs)
|
rs1558457993
|
|
NM_145038.5(DRC1):c.2081G>C (p.Arg694Thr)
|
rs372797665
|
|
NM_145038.5(DRC1):c.2102A>G (p.Asn701Ser)
|
|
|
NM_145038.5(DRC1):c.2134C>T (p.Gln712Ter)
|
rs763706980
|
|
NM_145038.5(DRC1):c.2140C>A (p.Leu714Ile)
|
rs1572389551
|
|
NM_145038.5(DRC1):c.2183A>T (p.Gln728Leu)
|
rs2148010186
|
|
NM_145038.5(DRC1):c.218A>G (p.Tyr73Cys)
|
|
|
NM_145038.5(DRC1):c.2190_2193dup (p.Thr732fs)
|
rs763631774
|
|
NM_145038.5(DRC1):c.220A>C (p.Lys74Gln)
|
rs776739782
|
|
NM_145038.5(DRC1):c.237C>A (p.Ser79Arg)
|
|
|
NM_145038.5(DRC1):c.239G>A (p.Arg80Gln)
|
rs148643291
|
|
NM_145038.5(DRC1):c.308T>C (p.Ile103Thr)
|
|
|
NM_145038.5(DRC1):c.320A>G (p.His107Arg)
|
rs1663137062
|
|
NM_145038.5(DRC1):c.356+3A>G
|
rs1572361252
|
|
NM_145038.5(DRC1):c.379G>T (p.Val127Phe)
|
rs1199545365
|
|
NM_145038.5(DRC1):c.396C>A (p.Asp132Glu)
|
rs770549722
|
|
NM_145038.5(DRC1):c.39C>A (p.Asn13Lys)
|
rs757114521
|
|
NM_145038.5(DRC1):c.409A>G (p.Ile137Val)
|
rs1333711600
|
|
NM_145038.5(DRC1):c.418A>C (p.Lys140Gln)
|
rs201245045
|
|
NM_145038.5(DRC1):c.46G>A (p.Glu16Lys)
|
|
|
NM_145038.5(DRC1):c.479A>C (p.Gln160Pro)
|
rs762794275
|
|
NM_145038.5(DRC1):c.494_495delinsTG (p.Ala165Val)
|
rs1572363707
|
|
NM_145038.5(DRC1):c.513_515del (p.Lys171del)
|
rs773138367
|
|
NM_145038.5(DRC1):c.56C>T (p.Ser19Phe)
|
|
|
NM_145038.5(DRC1):c.5A>T (p.Asn2Ile)
|
|
|
NM_145038.5(DRC1):c.616C>T (p.Arg206Trp)
|
rs1160786100
|
|
NM_145038.5(DRC1):c.674T>A (p.Ile225Asn)
|
|
|
NM_145038.5(DRC1):c.686T>C (p.Phe229Ser)
|
rs2147991541
|
|
NM_145038.5(DRC1):c.698G>A (p.Arg233His)
|
|
|
NM_145038.5(DRC1):c.712G>T (p.Ala238Ser)
|
rs1663414723
|
|
NM_145038.5(DRC1):c.77C>G (p.Ser26Trp)
|
rs745542616
|
|
NM_145038.5(DRC1):c.785G>A (p.Arg262His)
|
|
|
NM_145038.5(DRC1):c.793A>C (p.Lys265Gln)
|
|
|
NM_145038.5(DRC1):c.985G>A (p.Glu329Lys)
|
rs1060501406
|
|
NM_145045.5(ODAD3):c.1021G>T (p.Ala341Ser)
|
rs1408368135
|
|
NM_145045.5(ODAD3):c.1057T>C (p.Tyr353His)
|
|
|
NM_145045.5(ODAD3):c.1064T>C (p.Met355Thr)
|
|
|
NM_145045.5(ODAD3):c.1088A>G (p.Lys363Arg)
|
|
|
NM_145045.5(ODAD3):c.1088A>T (p.Lys363Met)
|
rs1969200826
|
|
NM_145045.5(ODAD3):c.1107C>G (p.Asp369Glu)
|
|
|
NM_145045.5(ODAD3):c.1114C>T (p.His372Tyr)
|
rs1969199869
|
|
NM_145045.5(ODAD3):c.1116+3G>A
|
rs1227773972
|
|
NM_145045.5(ODAD3):c.1130G>A (p.Arg377Gln)
|
|
|
NM_145045.5(ODAD3):c.1178G>A (p.Ser393Asn)
|
|
|
NM_145045.5(ODAD3):c.1180G>A (p.Glu394Lys)
|
|
|
NM_145045.5(ODAD3):c.1213G>A (p.Glu405Lys)
|
|
|
NM_145045.5(ODAD3):c.1213_1215del (p.Glu405del)
|
rs765121016
|
|
NM_145045.5(ODAD3):c.1246C>T (p.Leu416Phe)
|
|
|
NM_145045.5(ODAD3):c.1277+6G>T
|
rs2144755490
|
|
NM_145045.5(ODAD3):c.1295C>G (p.Ala432Gly)
|
|
|
NM_145045.5(ODAD3):c.130A>C (p.Thr44Pro)
|
rs2144791017
|
|
NM_145045.5(ODAD3):c.1316A>G (p.Lys439Arg)
|
rs1060501320
|
|
NM_145045.5(ODAD3):c.133G>A (p.Ala45Thr)
|
|
|
NM_145045.5(ODAD3):c.1342G>A (p.Ala448Thr)
|
rs1230254847
|
|
NM_145045.5(ODAD3):c.1402C>T (p.His468Tyr)
|
|
|
NM_145045.5(ODAD3):c.1429A>G (p.Thr477Ala)
|
|
|
NM_145045.5(ODAD3):c.1441G>C (p.Gly481Arg)
|
|
|
NM_145045.5(ODAD3):c.1490C>G (p.Pro497Arg)
|
rs1340885760
|
|
NM_145045.5(ODAD3):c.1552G>A (p.Asp518Asn)
|
rs151110715
|
|
NM_145045.5(ODAD3):c.1559A>C (p.Gln520Pro)
|
|
|
NM_145045.5(ODAD3):c.1579G>T (p.Ala527Ser)
|
rs1174747093
|
|
NM_145045.5(ODAD3):c.1645C>A (p.Pro549Thr)
|
rs1599451068
|
|
NM_145045.5(ODAD3):c.1670T>G (p.Phe557Cys)
|
|
|
NM_145045.5(ODAD3):c.1689GGA[2] (p.Glu565del)
|
rs771032462
|
|
NM_145045.5(ODAD3):c.1759AAG[1] (p.Lys588del)
|
|
|
NM_145045.5(ODAD3):c.194C>T (p.Pro65Leu)
|
rs2144790662
|
|
NM_145045.5(ODAD3):c.199G>C (p.Val67Leu)
|
rs1444450984
|
|
NM_145045.5(ODAD3):c.20G>T (p.Arg7Met)
|
|
|
NM_145045.5(ODAD3):c.23C>T (p.Ala8Val)
|
|
|
NM_145045.5(ODAD3):c.302A>C (p.Glu101Ala)
|
rs745577732
|
|
NM_145045.5(ODAD3):c.313C>G (p.Gln105Glu)
|
rs1969490670
|
|
NM_145045.5(ODAD3):c.317T>C (p.Leu106Pro)
|
|
|
NM_145045.5(ODAD3):c.320G>T (p.Arg107Leu)
|
|
|
NM_145045.5(ODAD3):c.395T>C (p.Ile132Thr)
|
rs1969485600
|
|
NM_145045.5(ODAD3):c.444+5G>A
|
|
|
NM_145045.5(ODAD3):c.445-3C>T
|
|
|
NM_145045.5(ODAD3):c.456C>G (p.His152Gln)
|
|
|
NM_145045.5(ODAD3):c.458T>G (p.Leu153Arg)
|
|
|
NM_145045.5(ODAD3):c.473G>A (p.Arg158Lys)
|
rs369769695
|
|
NM_145045.5(ODAD3):c.481G>A (p.Val161Met)
|
rs1555723194
|
|
NM_145045.5(ODAD3):c.515T>C (p.Val172Ala)
|
|
|
NM_145045.5(ODAD3):c.599C>T (p.Thr200Met)
|
|
|
NM_145045.5(ODAD3):c.5C>T (p.Thr2Ile)
|
rs557803666
|
|
NM_145045.5(ODAD3):c.619C>T (p.Arg207Trp)
|
rs1167009347
|
|
NM_145045.5(ODAD3):c.61T>G (p.Ser21Ala)
|
|
|
NM_145045.5(ODAD3):c.634C>A (p.Arg212Ser)
|
|
|
NM_145045.5(ODAD3):c.634C>T (p.Arg212Cys)
|
|
|
NM_145045.5(ODAD3):c.664G>A (p.Glu222Lys)
|
rs1969384812
|
|
NM_145045.5(ODAD3):c.670G>A (p.Glu224Lys)
|
|
|
NM_145045.5(ODAD3):c.711_713dup (p.Leu237_Met238insIle)
|
rs1060501309
|
|
NM_145045.5(ODAD3):c.749C>T (p.Ser250Phe)
|
|
|
NM_145045.5(ODAD3):c.766G>A (p.Val256Met)
|
rs1298588458
|
|
NM_145045.5(ODAD3):c.767_787del (p.Val256_Leu262del)
|
rs1064792932
|
|
NM_145045.5(ODAD3):c.809A>G (p.Gln270Arg)
|
rs1326979360
|
|
NM_145045.5(ODAD3):c.85G>T (p.Gly29Cys)
|
|
|
NM_145045.5(ODAD3):c.8C>G (p.Ser3Cys)
|
rs756389981
|
|
NM_145045.5(ODAD3):c.904A>C (p.Ser302Arg)
|
rs1423540068
|
|
NM_145045.5(ODAD3):c.907G>A (p.Glu303Lys)
|
rs1060501319
|
|
NM_145045.5(ODAD3):c.908A>G (p.Glu303Gly)
|
|
|
NM_145045.5(ODAD3):c.919C>G (p.Arg307Gly)
|
rs375587857
|
|
NM_145045.5(ODAD3):c.925GAG[1] (p.Glu310del)
|
|
|
NM_145045.5(ODAD3):c.997G>C (p.Asp333His)
|
rs112797378
|
|
NM_147127.5(EVC2):c.1006G>T (p.Val336Phe)
|
|
|
NM_147127.5(EVC2):c.101G>A (p.Ser34Asn)
|
rs888701582
|
|
NM_147127.5(EVC2):c.1046C>T (p.Thr349Ile)
|
|
|
NM_147127.5(EVC2):c.1054G>C (p.Asp352His)
|
|
|
NM_147127.5(EVC2):c.1060G>A (p.Val354Met)
|
|
|
NM_147127.5(EVC2):c.1082A>G (p.Asn361Ser)
|
|
|
NM_147127.5(EVC2):c.1089A>G (p.Gln363=)
|
|
|
NM_147127.5(EVC2):c.1112A>G (p.Glu371Gly)
|
|
|
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr)
|
rs780517206
|
|
NM_147127.5(EVC2):c.1159A>G (p.Thr387Ala)
|
|
|
NM_147127.5(EVC2):c.1166A>G (p.Asn389Ser)
|
|
|
NM_147127.5(EVC2):c.1168C>T (p.Arg390Trp)
|
|
|
NM_147127.5(EVC2):c.1172C>T (p.Ala391Val)
|
|
|
NM_147127.5(EVC2):c.1186G>A (p.Glu396Lys)
|
rs2108864342
|
|
NM_147127.5(EVC2):c.1196G>A (p.Arg399Gln)
|
|
|
NM_147127.5(EVC2):c.11C>G (p.Ser4Trp)
|
|
|
NM_147127.5(EVC2):c.1209C>A (p.Ser403Arg)
|
|
|
NM_147127.5(EVC2):c.1214A>G (p.Asp405Gly)
|
|
|
NM_147127.5(EVC2):c.1215T>A (p.Asp405Glu)
|
|
|
NM_147127.5(EVC2):c.121C>A (p.Pro41Thr)
|
|
|
NM_147127.5(EVC2):c.1220T>C (p.Ile407Thr)
|
|
|
NM_147127.5(EVC2):c.1228C>G (p.Leu410Val)
|
|
|
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser)
|
rs1381375453
|
|
NM_147127.5(EVC2):c.1298A>G (p.Lys433Arg)
|
|
|
NM_147127.5(EVC2):c.1319A>T (p.Glu440Val)
|
|
|
NM_147127.5(EVC2):c.1342G>A (p.Asp448Asn)
|
|
|
NM_147127.5(EVC2):c.1345C>T (p.Arg449Trp)
|
|
|
NM_147127.5(EVC2):c.1381G>A (p.Glu461Lys)
|
rs2108863818
|
|
NM_147127.5(EVC2):c.139C>A (p.Pro47Thr)
|
|
|
NM_147127.5(EVC2):c.1417G>C (p.Glu473Gln)
|
|
|
NM_147127.5(EVC2):c.1456C>A (p.Arg486Ser)
|
|
|
NM_147127.5(EVC2):c.1470+6A>G
|
|
|
NM_147127.5(EVC2):c.1514T>C (p.Leu505Pro)
|
|
|
NM_147127.5(EVC2):c.1516G>A (p.Glu506Lys)
|
|
|
NM_147127.5(EVC2):c.1540C>T (p.Leu514Phe)
|
|
|
NM_147127.5(EVC2):c.1554AGA[2] (p.Glu520del)
|
rs772411576
|
|
NM_147127.5(EVC2):c.1556A>G (p.Glu519Gly)
|
|
|
NM_147127.5(EVC2):c.1562A>G (p.Asp521Gly)
|
|
|
NM_147127.5(EVC2):c.1574C>T (p.Ala525Val)
|
|
|
NM_147127.5(EVC2):c.1589C>A (p.Ala530Asp)
|
rs1329925495
|
|
NM_147127.5(EVC2):c.1616G>T (p.Ser539Ile)
|
|
|
NM_147127.5(EVC2):c.1634T>C (p.Ile545Thr)
|
|
|
NM_147127.5(EVC2):c.1637A>C (p.Lys546Thr)
|
|
|
NM_147127.5(EVC2):c.1645A>G (p.Ile549Val)
|
|
|
NM_147127.5(EVC2):c.1675G>A (p.Ala559Thr)
|
|
|
NM_147127.5(EVC2):c.1688T>C (p.Leu563Pro)
|
|
|
NM_147127.5(EVC2):c.1700C>T (p.Ser567Phe)
|
|
|
NM_147127.5(EVC2):c.1740C>G (p.Phe580Leu)
|
|
|
NM_147127.5(EVC2):c.176G>A (p.Gly59Asp)
|
|
|
NM_147127.5(EVC2):c.176G>C (p.Gly59Ala)
|
|
|
NM_147127.5(EVC2):c.1782C>G (p.His594Gln)
|
|
|
NM_147127.5(EVC2):c.1788_1793del (p.Tyr597_Leu598del)
|
|
|
NM_147127.5(EVC2):c.1802A>G (p.Asn601Ser)
|
rs775815805
|
|
NM_147127.5(EVC2):c.1811C>T (p.Ser604Leu)
|
|
|
NM_147127.5(EVC2):c.1825G>A (p.Val609Met)
|
|
|
NM_147127.5(EVC2):c.1859T>A (p.Leu620Gln)
|
rs1560177469
|
|
NM_147127.5(EVC2):c.1886+3A>G
|
rs2108846962
|
|
NM_147127.5(EVC2):c.1888G>A (p.Ala630Thr)
|
|
|
NM_147127.5(EVC2):c.1889C>G (p.Ala630Gly)
|
|
|
NM_147127.5(EVC2):c.1892G>T (p.Gly631Val)
|
|
|
NM_147127.5(EVC2):c.1926G>T (p.Leu642Phe)
|
rs2108843340
|
|
NM_147127.5(EVC2):c.1929G>C (p.Glu643Asp)
|
|
|
NM_147127.5(EVC2):c.1977C>G (p.Asp659Glu)
|
|
|
NM_147127.5(EVC2):c.1994A>T (p.Lys665Ile)
|
|
|
NM_147127.5(EVC2):c.199A>G (p.Ser67Gly)
|
rs1722347761
|
|
NM_147127.5(EVC2):c.2053G>A (p.Glu685Lys)
|
|
|
NM_147127.5(EVC2):c.2057A>G (p.Gln686Arg)
|
|
|
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
|
|
|
NM_147127.5(EVC2):c.2093G>A (p.Arg698Gln)
|
|
|
NM_147127.5(EVC2):c.2107G>A (p.Ala703Thr)
|
rs1381479998
|
|
NM_147127.5(EVC2):c.2108C>T (p.Ala703Val)
|
|
|
NM_147127.5(EVC2):c.2124C>G (p.His708Gln)
|
|
|
NM_147127.5(EVC2):c.2135G>A (p.Ser712Asn)
|
rs371896802
|
|
NM_147127.5(EVC2):c.214G>C (p.Glu72Gln)
|
|
|
NM_147127.5(EVC2):c.2159C>A (p.Thr720Asn)
|
|
|
NM_147127.5(EVC2):c.2164_2172dup (p.Leu724_Gln725insGluGluLeu)
|
|
|
NM_147127.5(EVC2):c.2200G>A (p.Asp734Asn)
|
rs1715808033
|
|
NM_147127.5(EVC2):c.2210G>A (p.Arg737Lys)
|
|
|
NM_147127.5(EVC2):c.2258G>A (p.Arg753His)
|
|
|
NM_147127.5(EVC2):c.227A>G (p.Gln76Arg)
|
rs976833828
|
|
NM_147127.5(EVC2):c.2296C>T (p.Arg766Cys)
|
|
|
NM_147127.5(EVC2):c.2297G>A (p.Arg766His)
|
|
|
NM_147127.5(EVC2):c.2297G>T (p.Arg766Leu)
|
|
|
NM_147127.5(EVC2):c.2305C>T (p.Pro769Ser)
|
rs1454769055
|
|
NM_147127.5(EVC2):c.2341G>A (p.Gly781Ser)
|
rs1272970867
|
|
NM_147127.5(EVC2):c.2356G>T (p.Ala786Ser)
|
|
|
NM_147127.5(EVC2):c.2365G>A (p.Glu789Lys)
|
|
|
NM_147127.5(EVC2):c.2376G>C (p.Glu792Asp)
|
|
|
NM_147127.5(EVC2):c.2377G>C (p.Gly793Arg)
|
|
|
NM_147127.5(EVC2):c.2386A>G (p.Arg796Gly)
|
|
|
NM_147127.5(EVC2):c.2390A>C (p.Asp797Ala)
|
rs931667385
|
|
NM_147127.5(EVC2):c.241A>T (p.Met81Leu)
|
|
|
NM_147127.5(EVC2):c.243G>A (p.Met81Ile)
|
|
|
NM_147127.5(EVC2):c.2467G>A (p.Ala823Thr)
|
|
|
NM_147127.5(EVC2):c.2474T>C (p.Leu825Pro)
|
rs1270446777
|
|
NM_147127.5(EVC2):c.2479C>T (p.Arg827Cys)
|
|
|
NM_147127.5(EVC2):c.2482T>C (p.Trp828Arg)
|
|
|
NM_147127.5(EVC2):c.2490C>A (p.His830Gln)
|
|
|
NM_147127.5(EVC2):c.2506C>T (p.Leu836Phe)
|
|
|
NM_147127.5(EVC2):c.2512T>C (p.Ser838Pro)
|
|
|
NM_147127.5(EVC2):c.2518G>A (p.Val840Ile)
|
rs2108833529
|
|
NM_147127.5(EVC2):c.2585T>A (p.Met862Lys)
|
|
|
NM_147127.5(EVC2):c.2587G>A (p.Asp863Asn)
|
|
|
NM_147127.5(EVC2):c.2614C>T (p.Arg872Trp)
|
|
|
NM_147127.5(EVC2):c.2643G>C (p.Gln881His)
|
|
|
NM_147127.5(EVC2):c.2654G>A (p.Arg885Gln)
|
|
|
NM_147127.5(EVC2):c.2686G>A (p.Val896Met)
|
|
|
NM_147127.5(EVC2):c.2695C>T (p.Pro899Ser)
|
|
|
NM_147127.5(EVC2):c.2706G>C (p.Gln902His)
|
|
|
NM_147127.5(EVC2):c.2707-9C>A
|
rs772234395
|
|
NM_147127.5(EVC2):c.2731C>T (p.Arg911Trp)
|
|
|
NM_147127.5(EVC2):c.2732G>C (p.Arg911Pro)
|
|
|
NM_147127.5(EVC2):c.2785A>G (p.Ile929Val)
|
|
|
NM_147127.5(EVC2):c.2815G>A (p.Asp939Asn)
|
|
|
NM_147127.5(EVC2):c.2834G>A (p.Arg945Gln)
|
|
|
NM_147127.5(EVC2):c.2885G>A (p.Gly962Asp)
|
rs748869122
|
|
NM_147127.5(EVC2):c.2929C>T (p.Arg977Trp)
|
|
|
NM_147127.5(EVC2):c.2938G>A (p.Glu980Lys)
|
|
|
NM_147127.5(EVC2):c.2941A>T (p.Thr981Ser)
|
|
|
NM_147127.5(EVC2):c.2948C>T (p.Ser983Leu)
|
rs536732931
|
|
NM_147127.5(EVC2):c.2957C>T (p.Thr986Ile)
|
|
|
NM_147127.5(EVC2):c.2993A>T (p.Glu998Val)
|
|
|
NM_147127.5(EVC2):c.3010A>G (p.Met1004Val)
|
|
|
NM_147127.5(EVC2):c.3012G>A (p.Met1004Ile)
|
|
|
NM_147127.5(EVC2):c.3023C>G (p.Ser1008Trp)
|
rs60809236
|
|
NM_147127.5(EVC2):c.303G>A (p.Met101Ile)
|
|
|
NM_147127.5(EVC2):c.3047C>T (p.Ser1016Leu)
|
|
|
NM_147127.5(EVC2):c.3086A>G (p.Glu1029Gly)
|
|
|
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu)
|
rs370438593
|
|
NM_147127.5(EVC2):c.3102G>T (p.Gln1034His)
|
|
|
NM_147127.5(EVC2):c.3141G>T (p.Trp1047Cys)
|
|
|
NM_147127.5(EVC2):c.3161G>T (p.Gly1054Val)
|
|
|
NM_147127.5(EVC2):c.3166G>A (p.Gly1056Arg)
|
|
|
NM_147127.5(EVC2):c.3215C>T (p.Thr1072Ile)
|
|
|
NM_147127.5(EVC2):c.3237C>T (p.Ser1079=)
|
|
|
NM_147127.5(EVC2):c.3238A>C (p.Lys1080Gln)
|
|
|
NM_147127.5(EVC2):c.3240G>C (p.Lys1080Asn)
|
|
|
NM_147127.5(EVC2):c.3269A>C (p.Gln1090Pro)
|
|
|
NM_147127.5(EVC2):c.32C>G (p.Thr11Arg)
|
|
|
NM_147127.5(EVC2):c.3325A>G (p.Met1109Val)
|
|
|
NM_147127.5(EVC2):c.3360+16C>G
|
|
|
NM_147127.5(EVC2):c.3360G>C (p.Gln1120His)
|
rs1577106433
|
|
NM_147127.5(EVC2):c.3386C>A (p.Ala1129Glu)
|
|
|
NM_147127.5(EVC2):c.3386C>T (p.Ala1129Val)
|
|
|
NM_147127.5(EVC2):c.3395C>T (p.Ala1132Val)
|
|
|
NM_147127.5(EVC2):c.3397A>C (p.Met1133Leu)
|
|
|
NM_147127.5(EVC2):c.3397A>G (p.Met1133Val)
|
|
|
NM_147127.5(EVC2):c.3410C>T (p.Ala1137Val)
|
|
|
NM_147127.5(EVC2):c.3418C>T (p.Arg1140Cys)
|
|
|
NM_147127.5(EVC2):c.3419G>A (p.Arg1140His)
|
rs779684008
|
|
NM_147127.5(EVC2):c.3421C>T (p.Arg1141Trp)
|
|
|
NM_147127.5(EVC2):c.3422G>A (p.Arg1141Gln)
|
|
|
NM_147127.5(EVC2):c.3436G>A (p.Val1146Ile)
|
|
|
NM_147127.5(EVC2):c.3470C>G (p.Ala1157Gly)
|
|
|
NM_147127.5(EVC2):c.3488C>T (p.Thr1163Ile)
|
|
|
NM_147127.5(EVC2):c.3506A>G (p.His1169Arg)
|
|
|
NM_147127.5(EVC2):c.3524G>T (p.Gly1175Val)
|
|
|
NM_147127.5(EVC2):c.3530C>T (p.Ala1177Val)
|
|
|
NM_147127.5(EVC2):c.3544G>A (p.Val1182Met)
|
|
|
NM_147127.5(EVC2):c.3544G>C (p.Val1182Leu)
|
|
|
NM_147127.5(EVC2):c.3544G>T (p.Val1182Leu)
|
rs144511301
|
|
NM_147127.5(EVC2):c.3552G>T (p.Arg1184Ser)
|
|
|
NM_147127.5(EVC2):c.3553C>T (p.Arg1185Trp)
|
|
|
NM_147127.5(EVC2):c.3554G>A (p.Arg1185Gln)
|
|
|
NM_147127.5(EVC2):c.3604G>T (p.Asp1202Tyr)
|
rs752599166
|
|
NM_147127.5(EVC2):c.3617G>A (p.Arg1206Lys)
|
|
|
NM_147127.5(EVC2):c.3659+3A>C
|
|
|
NM_147127.5(EVC2):c.3659+3A>G
|
|
|
NM_147127.5(EVC2):c.3659+5T>C
|
rs1722200321
|
|
NM_147127.5(EVC2):c.3687dup (p.Arg1230fs)
|
|
|
NM_147127.5(EVC2):c.3689del (p.Arg1230fs)
|
|
|
NM_147127.5(EVC2):c.3718A>C (p.Ser1240Arg)
|
rs1399603571
|
|
NM_147127.5(EVC2):c.3724C>A (p.Pro1242Thr)
|
|
|
NM_147127.5(EVC2):c.3760C>G (p.Pro1254Ala)
|
|
|
NM_147127.5(EVC2):c.3772G>T (p.Val1258Leu)
|
|
|
NM_147127.5(EVC2):c.3778del (p.Ala1260fs)
|
|
|
NM_147127.5(EVC2):c.3779C>T (p.Ala1260Val)
|
rs894829697
|
|
NM_147127.5(EVC2):c.3787A>T (p.Ile1263Phe)
|
|
|
NM_147127.5(EVC2):c.3835A>G (p.Lys1279Glu)
|
|
|
NM_147127.5(EVC2):c.3846G>T (p.Glu1282Asp)
|
|
|
NM_147127.5(EVC2):c.3913T>G (p.Leu1305Val)
|
|
|
NM_147127.5(EVC2):c.3919A>C (p.Met1307Leu)
|
|
|
NM_147127.5(EVC2):c.431C>T (p.Ser144Phe)
|
|
|
NM_147127.5(EVC2):c.434C>A (p.Pro145His)
|
|
|
NM_147127.5(EVC2):c.434C>G (p.Pro145Arg)
|
|
|
NM_147127.5(EVC2):c.434C>T (p.Pro145Leu)
|
|
|
NM_147127.5(EVC2):c.436A>G (p.Ile146Val)
|
|
|
NM_147127.5(EVC2):c.445C>T (p.Arg149Cys)
|
|
|
NM_147127.5(EVC2):c.49G>T (p.Gly17Cys)
|
|
|
NM_147127.5(EVC2):c.509A>T (p.Lys170Ile)
|
rs2151733915
|
|
NM_147127.5(EVC2):c.550C>G (p.Arg184Gly)
|
|
|
NM_147127.5(EVC2):c.555A>G (p.Ile185Met)
|
rs2151731889
|
|
NM_147127.5(EVC2):c.556T>C (p.Trp186Arg)
|
rs1342830628
|
|
NM_147127.5(EVC2):c.55C>A (p.Leu19Met)
|
rs1722364834
|
|
NM_147127.5(EVC2):c.566T>A (p.Val189Asp)
|
|
|
NM_147127.5(EVC2):c.596A>G (p.Asn199Ser)
|
rs567458437
|
|
NM_147127.5(EVC2):c.610C>T (p.Leu204Phe)
|
|
|
NM_147127.5(EVC2):c.616C>G (p.Leu206Val)
|
|
|
NM_147127.5(EVC2):c.638C>T (p.Thr213Ile)
|
rs2151731712
|
|
NM_147127.5(EVC2):c.646G>A (p.Asp216Asn)
|
|
|
NM_147127.5(EVC2):c.649T>C (p.Ser217Pro)
|
|
|
NM_147127.5(EVC2):c.656G>A (p.Gly219Glu)
|
rs1720935592
|
|
NM_147127.5(EVC2):c.662G>A (p.Arg221Lys)
|
|
|
NM_147127.5(EVC2):c.689G>A (p.Ser230Asn)
|
|
|
NM_147127.5(EVC2):c.706+6A>G
|
|
|
NM_147127.5(EVC2):c.722C>T (p.Ala241Val)
|
|
|
NM_147127.5(EVC2):c.734C>A (p.Ala245Glu)
|
rs1720636458
|
|
NM_147127.5(EVC2):c.740C>T (p.Thr247Met)
|
|
|
NM_147127.5(EVC2):c.748G>A (p.Ala250Thr)
|
|
|
NM_147127.5(EVC2):c.749C>T (p.Ala250Val)
|
|
|
NM_147127.5(EVC2):c.760G>A (p.Gly254Arg)
|
|
|
NM_147127.5(EVC2):c.766G>A (p.Gly256Arg)
|
|
|
NM_147127.5(EVC2):c.787G>A (p.Ala263Thr)
|
|
|
NM_147127.5(EVC2):c.797C>G (p.Thr266Ser)
|
|
|
NM_147127.5(EVC2):c.797C>T (p.Thr266Ile)
|
|
|
NM_147127.5(EVC2):c.80G>C (p.Gly27Ala)
|
|
|
NM_147127.5(EVC2):c.83G>A (p.Arg28Gln)
|
|
|
NM_147127.5(EVC2):c.844T>A (p.Ser282Thr)
|
|
|
NM_147127.5(EVC2):c.845C>G (p.Ser282Cys)
|
|
|
NM_147127.5(EVC2):c.845C>T (p.Ser282Phe)
|
|
|
NM_147127.5(EVC2):c.847A>G (p.Ile283Val)
|
|
|
NM_147127.5(EVC2):c.856G>A (p.Glu286Lys)
|
|
|
NM_147127.5(EVC2):c.864C>G (p.Asn288Lys)
|
rs144730069
|
|
NM_147127.5(EVC2):c.865G>C (p.Val289Leu)
|
|
|
NM_147127.5(EVC2):c.886G>A (p.Gly296Ser)
|
|
|
NM_147127.5(EVC2):c.887G>T (p.Gly296Val)
|
|
|
NM_147127.5(EVC2):c.938C>G (p.Thr313Ser)
|
|
|
NM_147127.5(EVC2):c.950T>C (p.Leu317Pro)
|
|
|
NM_147127.5(EVC2):c.960G>C (p.Met320Ile)
|
|
|
NM_147127.5(EVC2):c.964C>T (p.Arg322Cys)
|
|
|
NM_152384.3(BBS5):c.1001A>G (p.Gln334Arg)
|
rs2105304403
|
|
NM_152384.3(BBS5):c.1003G>C (p.Gly335Arg)
|
|
|
NM_152384.3(BBS5):c.1009T>C (p.Trp337Arg)
|
|
|
NM_152384.3(BBS5):c.106T>A (p.Ser36Thr)
|
rs1683411036
|
|
NM_152384.3(BBS5):c.142+3G>T
|
rs2105291754
|
|
NM_152384.3(BBS5):c.17C>A (p.Ala6Glu)
|
|
|
NM_152384.3(BBS5):c.17C>T (p.Ala6Val)
|
rs1307558837
|
|
NM_152384.3(BBS5):c.208+5G>T
|
rs745646726
|
|
NM_152384.3(BBS5):c.209-9G>A
|
|
|
NM_152384.3(BBS5):c.211G>A (p.Val71Ile)
|
rs1397496181
|
|
NM_152384.3(BBS5):c.24G>C (p.Trp8Cys)
|
|
|
NM_152384.3(BBS5):c.258+5G>A
|
|
|
NM_152384.3(BBS5):c.25G>C (p.Glu9Gln)
|
rs1363954560
|
|
NM_152384.3(BBS5):c.283C>G (p.Leu95Val)
|
|
|
NM_152384.3(BBS5):c.293T>C (p.Leu98Pro)
|
|
|
NM_152384.3(BBS5):c.313C>T (p.Arg105Cys)
|
rs764755791
|
|
NM_152384.3(BBS5):c.347G>A (p.Gly116Glu)
|
rs1683516352
|
|
NM_152384.3(BBS5):c.347G>C (p.Gly116Ala)
|
rs1683516352
|
|
NM_152384.3(BBS5):c.34G>A (p.Asp12Asn)
|
|
|
NM_152384.3(BBS5):c.353C>G (p.Pro118Arg)
|
|
|
NM_152384.3(BBS5):c.365C>A (p.Thr122Asn)
|
|
|
NM_152384.3(BBS5):c.365C>T (p.Thr122Ile)
|
rs74271896
|
|
NM_152384.3(BBS5):c.413G>C (p.Arg138Pro)
|
|
|
NM_152384.3(BBS5):c.428G>A (p.Arg143Lys)
|
|
|
NM_152384.3(BBS5):c.449A>G (p.Lys150Arg)
|
rs1214512447
|
|
NM_152384.3(BBS5):c.452A>C (p.Gln151Pro)
|
|
|
NM_152384.3(BBS5):c.479T>C (p.Val160Ala)
|
|
|
NM_152384.3(BBS5):c.47A>T (p.Asp16Val)
|
|
|
NM_152384.3(BBS5):c.522+4T>C
|
rs2105297829
|
|
NM_152384.3(BBS5):c.523-10T>C
|
|
|
NM_152384.3(BBS5):c.523-20C>G
|
rs2105298167
|
|
NM_152384.3(BBS5):c.536C>T (p.Thr179Ile)
|
rs1272114286
|
|
NM_152384.3(BBS5):c.569A>C (p.His190Pro)
|
rs755408078
|
|
NM_152384.3(BBS5):c.59+5G>A
|
rs2105290053
|
|
NM_152384.3(BBS5):c.598A>G (p.Ser200Gly)
|
rs2105298246
|
|
NM_152384.3(BBS5):c.603A>G (p.Ile201Met)
|
|
|
NM_152384.3(BBS5):c.607T>C (p.Tyr203His)
|
|
|
NM_152384.3(BBS5):c.619C>T (p.Arg207Cys)
|
|
|
NM_152384.3(BBS5):c.623C>T (p.Ser208Leu)
|
|
|
NM_152384.3(BBS5):c.649G>A (p.Gly217Ser)
|
rs1427534237
|
|
NM_152384.3(BBS5):c.658C>T (p.Leu220Phe)
|
|
|
NM_152384.3(BBS5):c.670A>C (p.Ser224Arg)
|
|
|
NM_152384.3(BBS5):c.674C>G (p.Ser225Cys)
|
rs776533440
|
|
NM_152384.3(BBS5):c.689G>A (p.Gly230Glu)
|
rs1683759336
|
|
NM_152384.3(BBS5):c.714T>A (p.Asp238Glu)
|
|
|
NM_152384.3(BBS5):c.740T>G (p.Val247Gly)
|
|
|
NM_152384.3(BBS5):c.748A>C (p.Ile250Leu)
|
rs2105301621
|
|
NM_152384.3(BBS5):c.752A>G (p.Asn251Ser)
|
rs779916920
|
|
NM_152384.3(BBS5):c.764A>G (p.Lys255Arg)
|
rs2105301646
|
|
NM_152384.3(BBS5):c.776C>T (p.Ala259Val)
|
rs1246115410
|
|
NM_152384.3(BBS5):c.788T>C (p.Phe263Ser)
|
rs969475017
|
|
NM_152384.3(BBS5):c.790G>A (p.Gly264Arg)
|
rs2105301667
|
|
NM_152384.3(BBS5):c.799T>G (p.Tyr267Asp)
|
|
|
NM_152384.3(BBS5):c.814A>G (p.Lys272Glu)
|
rs763705177
|
|
NM_152384.3(BBS5):c.817-10T>A
|
rs1683838280
|
|
NM_152384.3(BBS5):c.839C>A (p.Thr280Lys)
|
rs1683839253
|
|
NM_152384.3(BBS5):c.875C>G (p.Ser292Cys)
|
rs2105303568
|
|
NM_152384.3(BBS5):c.88C>T (p.Leu30Phe)
|
|
|
NM_152384.3(BBS5):c.890A>T (p.Asp297Val)
|
|
|
NM_152384.3(BBS5):c.896T>C (p.Phe299Ser)
|
|
|
NM_152384.3(BBS5):c.902C>T (p.Ala301Val)
|
rs2105304210
|
|
NM_152384.3(BBS5):c.913G>T (p.Asp305Tyr)
|
rs1683861388
|
|
NM_152384.3(BBS5):c.925-3A>G
|
rs2105304333
|
|
NM_152384.3(BBS5):c.925-4A>G
|
|
|
NM_152384.3(BBS5):c.977_978del (p.Lys326fs)
|
rs2105304387
|
|
NM_152618.3(BBS12):c.1001A>G (p.Tyr334Cys)
|
rs1800906037
|
|
NM_152618.3(BBS12):c.1007C>A (p.Thr336Asn)
|
|
|
NM_152618.3(BBS12):c.1009G>A (p.Val337Ile)
|
rs1800906327
|
|
NM_152618.3(BBS12):c.102ATC[1] (p.Ser36del)
|
rs2150735886
|
|
NM_152618.3(BBS12):c.1030C>G (p.Pro344Ala)
|
|
|
NM_152618.3(BBS12):c.1036A>T (p.Ile346Phe)
|
|
|
NM_152618.3(BBS12):c.1042G>A (p.Glu348Lys)
|
|
|
NM_152618.3(BBS12):c.107C>T (p.Ser36Phe)
|
|
|
NM_152618.3(BBS12):c.1095G>T (p.Glu365Asp)
|
|
|
NM_152618.3(BBS12):c.10G>T (p.Ala4Ser)
|
|
|
NM_152618.3(BBS12):c.110A>G (p.Lys37Arg)
|
|
|
NM_152618.3(BBS12):c.1148A>G (p.Asp383Gly)
|
rs1388311562
|
|
NM_152618.3(BBS12):c.1155G>A (p.Met385Ile)
|
rs1800911609
|
|
NM_152618.3(BBS12):c.1166A>G (p.Glu389Gly)
|
rs374270431
|
|
NM_152618.3(BBS12):c.1213A>C (p.Ile405Leu)
|
|
|
NM_152618.3(BBS12):c.1258G>A (p.Glu420Lys)
|
|
|
NM_152618.3(BBS12):c.1261C>T (p.Arg421Cys)
|
rs199596849
|
|
NM_152618.3(BBS12):c.1279A>G (p.Ile427Val)
|
|
|
NM_152618.3(BBS12):c.1281A>G (p.Ile427Met)
|
|
|
NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp)
|
rs756955366
|
|
NM_152618.3(BBS12):c.1303G>T (p.Gly435Cys)
|
|
|
NM_152618.3(BBS12):c.1310T>C (p.Val437Ala)
|
rs2150737136
|
|
NM_152618.3(BBS12):c.1343C>T (p.Ala448Val)
|
|
|
NM_152618.3(BBS12):c.1345G>A (p.Ala449Thr)
|
rs767887679
|
|
NM_152618.3(BBS12):c.1352C>A (p.Ala451Glu)
|
rs2150737180
|
|
NM_152618.3(BBS12):c.1372A>C (p.Thr458Pro)
|
|
|
NM_152618.3(BBS12):c.1382A>G (p.Asn461Ser)
|
rs1800919857
|
|
NM_152618.3(BBS12):c.1393G>T (p.Val465Leu)
|
rs1409837279
|
|
NM_152618.3(BBS12):c.1405G>A (p.Val469Ile)
|
rs756359668
|
|
NM_152618.3(BBS12):c.1411G>T (p.Val471Leu)
|
rs140675688
|
|
NM_152618.3(BBS12):c.143T>C (p.Val48Ala)
|
rs1800881705
|
|
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly)
|
rs772894742
|
|
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr)
|
rs145489987
|
|
NM_152618.3(BBS12):c.1466C>G (p.Ala489Gly)
|
rs2150737356
|
|
NM_152618.3(BBS12):c.1486G>A (p.Gly496Arg)
|
|
|
NM_152618.3(BBS12):c.1487G>C (p.Gly496Ala)
|
|
|
NM_152618.3(BBS12):c.1513A>G (p.Thr505Ala)
|
|
|
NM_152618.3(BBS12):c.1528G>A (p.Ala510Thr)
|
|
|
NM_152618.3(BBS12):c.1549G>A (p.Asp517Asn)
|
rs2150737447
|
|
NM_152618.3(BBS12):c.1573C>A (p.Arg525Ser)
|
rs760420127
|
|
NM_152618.3(BBS12):c.158C>T (p.Thr53Ile)
|
|
|
NM_152618.3(BBS12):c.1596G>C (p.Glu532Asp)
|
rs1477880509
|
|
NM_152618.3(BBS12):c.1604T>C (p.Val535Ala)
|
|
|
NM_152618.3(BBS12):c.1606T>C (p.Phe536Leu)
|
|
|
NM_152618.3(BBS12):c.1652A>T (p.His551Leu)
|
rs1174030927
|
|
NM_152618.3(BBS12):c.1653T>G (p.His551Gln)
|
rs1800929267
|
|
NM_152618.3(BBS12):c.1658T>C (p.Leu553Pro)
|
|
|
NM_152618.3(BBS12):c.165G>C (p.Arg55Ser)
|
|
|
NM_152618.3(BBS12):c.1673T>A (p.Leu558Gln)
|
rs2150737612
|
|
NM_152618.3(BBS12):c.1681_1683del (p.Glu561del)
|
rs1490785954
|
|
NM_152618.3(BBS12):c.1687C>G (p.His563Asp)
|
|
|
NM_152618.3(BBS12):c.1696T>C (p.Ser566Pro)
|
|
|
NM_152618.3(BBS12):c.1702T>C (p.Trp568Arg)
|
|
|
NM_152618.3(BBS12):c.1709A>C (p.His570Pro)
|
|
|
NM_152618.3(BBS12):c.1742C>T (p.Ala581Val)
|
rs2150737702
|
|
NM_152618.3(BBS12):c.1756A>G (p.Thr586Ala)
|
|
|
NM_152618.3(BBS12):c.1793A>G (p.Tyr598Cys)
|
|
|
NM_152618.3(BBS12):c.1811A>G (p.Tyr604Cys)
|
|
|
NM_152618.3(BBS12):c.1817C>G (p.Thr606Ser)
|
|
|
NM_152618.3(BBS12):c.1840G>C (p.Glu614Gln)
|
rs1800934088
|
|
NM_152618.3(BBS12):c.1844C>A (p.Ala615Asp)
|
rs17857451
|
|
NM_152618.3(BBS12):c.1853A>G (p.Tyr618Cys)
|
|
|
NM_152618.3(BBS12):c.1855A>G (p.Ile619Val)
|
|
|
NM_152618.3(BBS12):c.1861C>T (p.His621Tyr)
|
rs1800935119
|
|
NM_152618.3(BBS12):c.1864C>G (p.His622Asp)
|
|
|
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del)
|
rs758008862
|
|
NM_152618.3(BBS12):c.1936A>G (p.Arg646Gly)
|
|
|
NM_152618.3(BBS12):c.1945A>T (p.Asn649Tyr)
|
rs2150737920
|
|
NM_152618.3(BBS12):c.1951G>A (p.Asp651Asn)
|
|
|
NM_152618.3(BBS12):c.1966C>A (p.Leu656Met)
|
rs1800940804
|
|
NM_152618.3(BBS12):c.1970A>C (p.Glu657Ala)
|
rs1800940912
|
|
NM_152618.3(BBS12):c.1993G>A (p.Val665Ile)
|
|
|
NM_152618.3(BBS12):c.1993GTT[1] (p.Val666del)
|
|
|
NM_152618.3(BBS12):c.19G>A (p.Val7Ile)
|
rs1464814059
|
|
NM_152618.3(BBS12):c.2019G>T (p.Trp673Cys)
|
|
|
NM_152618.3(BBS12):c.2037A>C (p.Leu679Phe)
|
rs1553941612
|
|
NM_152618.3(BBS12):c.2037A>T (p.Leu679Phe)
|
rs1553941612
|
|
NM_152618.3(BBS12):c.2038_2039delinsAA (p.Val680Lys)
|
|
|
NM_152618.3(BBS12):c.2045T>C (p.Leu682Ser)
|
rs2150738089
|
|
NM_152618.3(BBS12):c.2062A>G (p.Ser688Gly)
|
rs1337705311
|
|
NM_152618.3(BBS12):c.2096T>A (p.Ile699Lys)
|
rs762266326
|
|
NM_152618.3(BBS12):c.2099A>G (p.Asn700Ser)
|
rs1800945725
|
|
NM_152618.3(BBS12):c.2117G>A (p.Gly706Asp)
|
rs759180956
|
|
NM_152618.3(BBS12):c.2126T>G (p.Phe709Cys)
|
|
|
NM_152618.3(BBS12):c.227C>T (p.Ala76Val)
|
|
|
NM_152618.3(BBS12):c.22G>A (p.Val8Ile)
|
|
|
NM_152618.3(BBS12):c.241T>C (p.Tyr81His)
|
|
|
NM_152618.3(BBS12):c.259A>G (p.Thr87Ala)
|
|
|
NM_152618.3(BBS12):c.274G>A (p.Val92Ile)
|
rs973844350
|
|
NM_152618.3(BBS12):c.277G>A (p.Gly93Ser)
|
|
|
NM_152618.3(BBS12):c.298GAA[1] (p.Glu101del)
|
rs1553941223
|
|
NM_152618.3(BBS12):c.29A>G (p.Lys10Arg)
|
|
|
NM_152618.3(BBS12):c.2T>C (p.Met1Thr)
|
rs1553941150
|
|
NM_152618.3(BBS12):c.310C>T (p.His104Tyr)
|
rs1472737770
|
|
NM_152618.3(BBS12):c.313C>T (p.Leu105Phe)
|
|
|
NM_152618.3(BBS12):c.317G>T (p.Gly106Val)
|
|
|
NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del)
|
rs752885483
|
|
NM_152618.3(BBS12):c.336A>G (p.Ile112Met)
|
|
|
NM_152618.3(BBS12):c.347T>A (p.Met116Lys)
|
|
|
NM_152618.3(BBS12):c.356G>A (p.Gly119Asp)
|
rs2150736114
|
|
NM_152618.3(BBS12):c.368G>A (p.Cys123Tyr)
|
|
|
NM_152618.3(BBS12):c.388C>A (p.Leu130Ile)
|
|
|
NM_152618.3(BBS12):c.400G>T (p.Val134Phe)
|
rs1467415217
|
|
NM_152618.3(BBS12):c.428_429delinsAT (p.Ser143Asn)
|
|
|
NM_152618.3(BBS12):c.42G>A (p.Met14Ile)
|
|
|
NM_152618.3(BBS12):c.433A>G (p.Lys145Glu)
|
rs1800890314
|
|
NM_152618.3(BBS12):c.436A>T (p.Thr146Ser)
|
rs1800890438
|
|
NM_152618.3(BBS12):c.437C>T (p.Thr146Ile)
|
rs2150736213
|
|
NM_152618.3(BBS12):c.521A>G (p.His174Arg)
|
|
|
NM_152618.3(BBS12):c.523G>T (p.Gly175Cys)
|
|
|
NM_152618.3(BBS12):c.547A>C (p.Thr183Pro)
|
|
|
NM_152618.3(BBS12):c.571G>A (p.Gly191Arg)
|
rs994493028
|
|
NM_152618.3(BBS12):c.577C>A (p.Pro193Thr)
|
rs1246383248
|
|
NM_152618.3(BBS12):c.580C>A (p.Leu194Ile)
|
rs200300023
|
|
NM_152618.3(BBS12):c.626A>G (p.Asp209Gly)
|
rs1472424724
|
|
NM_152618.3(BBS12):c.668A>G (p.Asp223Gly)
|
rs1060501473
|
|
NM_152618.3(BBS12):c.706C>T (p.His236Tyr)
|
|
|
NM_152618.3(BBS12):c.709T>C (p.Phe237Leu)
|
|
|
NM_152618.3(BBS12):c.719C>T (p.Thr240Ile)
|
rs140537219
|
|
NM_152618.3(BBS12):c.724A>G (p.Asn242Asp)
|
rs2150736461
|
|
NM_152618.3(BBS12):c.725A>G (p.Asn242Ser)
|
rs2150736463
|
|
NM_152618.3(BBS12):c.73A>G (p.Thr25Ala)
|
rs2150735856
|
|
NM_152618.3(BBS12):c.745C>G (p.Pro249Ala)
|
rs758191621
|
|
NM_152618.3(BBS12):c.745C>T (p.Pro249Ser)
|
rs758191621
|
|
NM_152618.3(BBS12):c.758A>C (p.Gln253Pro)
|
|
|
NM_152618.3(BBS12):c.758A>G (p.Gln253Arg)
|
|
|
NM_152618.3(BBS12):c.763C>G (p.His255Asp)
|
rs2150736491
|
|
NM_152618.3(BBS12):c.76G>A (p.Gly26Arg)
|
|
|
NM_152618.3(BBS12):c.805G>A (p.Val269Ile)
|
rs2150736540
|
|
NM_152618.3(BBS12):c.810G>C (p.Glu270Asp)
|
rs774510452
|
|
NM_152618.3(BBS12):c.847A>G (p.Met283Val)
|
rs1173472896
|
|
NM_152618.3(BBS12):c.854TAG[1] (p.Val286del)
|
|
|
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)
|
rs745504524
|
|
NM_152618.3(BBS12):c.863A>C (p.Glu288Ala)
|
|
|
NM_152618.3(BBS12):c.896T>A (p.Val299Glu)
|
|
|
NM_152618.3(BBS12):c.911G>A (p.Cys304Tyr)
|
|
|
NM_152618.3(BBS12):c.911G>C (p.Cys304Ser)
|
|
|
NM_152618.3(BBS12):c.961C>G (p.Pro321Ala)
|
rs2150736703
|
|
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del)
|
rs779801356
|
|
NM_152618.3(BBS12):c.978_979inv (p.Ser327Thr)
|
|
|
NM_152618.3(BBS12):c.97C>A (p.Leu33Ile)
|
|
|
NM_152618.3(BBS12):c.994C>G (p.Pro332Ala)
|
|
|
NM_152732.5(RSPH9):c.118C>G (p.Arg40Gly)
|
|
|
NM_152732.5(RSPH9):c.11A>G (p.Asp4Gly)
|
|
|
NM_152732.5(RSPH9):c.122A>G (p.Tyr41Cys)
|
|
|
NM_152732.5(RSPH9):c.124G>C (p.Asp42His)
|
|
|
NM_152732.5(RSPH9):c.128G>A (p.Arg43Gln)
|
|
|
NM_152732.5(RSPH9):c.191G>A (p.Ser64Asn)
|
rs1770719497
|
|
NM_152732.5(RSPH9):c.205G>T (p.Ala69Ser)
|
rs1477090977
|
|
NM_152732.5(RSPH9):c.235T>C (p.Cys79Arg)
|
|
|
NM_152732.5(RSPH9):c.24_25delinsTG (p.Ser9Ala)
|
|
|
NM_152732.5(RSPH9):c.25T>C (p.Ser9Pro)
|
rs767450427
|
|
NM_152732.5(RSPH9):c.271G>C (p.Glu91Gln)
|
rs2127891420
|
|
NM_152732.5(RSPH9):c.290C>T (p.Ser97Phe)
|
|
|
NM_152732.5(RSPH9):c.312G>C (p.Met104Ile)
|
rs2127891583
|
|
NM_152732.5(RSPH9):c.386A>G (p.Glu129Gly)
|
|
|
NM_152732.5(RSPH9):c.389T>C (p.Ile130Thr)
|
rs935743330
|
|
NM_152732.5(RSPH9):c.401T>C (p.Ile134Thr)
|
|
|
NM_152732.5(RSPH9):c.406G>C (p.Glu136Gln)
|
rs1771919718
|
|
NM_152732.5(RSPH9):c.416G>A (p.Arg139His)
|
|
|
NM_152732.5(RSPH9):c.445A>G (p.Lys149Glu)
|
|
|
NM_152732.5(RSPH9):c.449C>T (p.Ala150Val)
|
|
|
NM_152732.5(RSPH9):c.451G>A (p.Val151Met)
|
|
|
NM_152732.5(RSPH9):c.577C>G (p.Pro193Ala)
|
rs373236553
|
|
NM_152732.5(RSPH9):c.591_593del (p.Lys197del)
|
|
|
NM_152732.5(RSPH9):c.596A>T (p.Lys199Met)
|
|
|
NM_152732.5(RSPH9):c.668A>C (p.Lys223Thr)
|
rs772608546
|
|
NM_152732.5(RSPH9):c.704C>T (p.Ala235Val)
|
|
|
NM_152732.5(RSPH9):c.799G>A (p.Glu267Lys)
|
rs1554149875
|
|
NM_152732.5(RSPH9):c.808A>C (p.Met270Leu)
|
rs769366839
|
|
NM_153704.6(TMEM67):c.1030C>T (p.Leu344Phe)
|
rs2130668790
|
|
NM_153704.6(TMEM67):c.1048G>A (p.Glu350Lys)
|
|
|
NM_153704.6(TMEM67):c.1050A>C (p.Glu350Asp)
|
rs1813838328
|
|
NM_153704.6(TMEM67):c.1065+3A>C
|
|
|
NM_153704.6(TMEM67):c.1066-4_1066-3delinsAT
|
|
|
NM_153704.6(TMEM67):c.1093A>G (p.Asn365Asp)
|
|
|
NM_153704.6(TMEM67):c.1102T>A (p.Tyr368Asn)
|
|
|
NM_153704.6(TMEM67):c.1121A>G (p.Tyr374Cys)
|
|
|
NM_153704.6(TMEM67):c.1131+3A>G
|
|
|
NM_153704.6(TMEM67):c.1132-2_1132-1insAAAA
|
|
|
NM_153704.6(TMEM67):c.1159A>G (p.Ile387Val)
|
|
|
NM_153704.6(TMEM67):c.1160T>G (p.Ile387Ser)
|
|
|
NM_153704.6(TMEM67):c.1195C>T (p.Leu399Phe)
|
|
|
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup)
|
rs886063171
|
|
NM_153704.6(TMEM67):c.1220A>G (p.His407Arg)
|
rs777641401
|
|
NM_153704.6(TMEM67):c.1220A>T (p.His407Leu)
|
|
|
NM_153704.6(TMEM67):c.123C>G (p.Phe41Leu)
|
rs1812503608
|
|
NM_153704.6(TMEM67):c.124C>G (p.Pro42Ala)
|
|
|
NM_153704.6(TMEM67):c.1264C>T (p.His422Tyr)
|
|
|
NM_153704.6(TMEM67):c.1271A>C (p.Lys424Thr)
|
rs2130686722
|
|
NM_153704.6(TMEM67):c.1287A>G (p.Gln429=)
|
|
|
NM_153704.6(TMEM67):c.1316C>A (p.Thr439Asn)
|
|
|
NM_153704.6(TMEM67):c.1333G>C (p.Val445Leu)
|
rs1174323452
|
|
NM_153704.6(TMEM67):c.1338T>G (p.Asp446Glu)
|
|
|
NM_153704.6(TMEM67):c.1376C>A (p.Pro459Gln)
|
|
|
NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln)
|
rs199708882
|
|
NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu)
|
rs199708882
|
|
NM_153704.6(TMEM67):c.1381G>A (p.Val461Ile)
|
rs1036689562
|
|
NM_153704.6(TMEM67):c.13G>T (p.Gly5Cys)
|
|
|
NM_153704.6(TMEM67):c.1433C>T (p.Thr478Ile)
|
|
|
NM_153704.6(TMEM67):c.1447A>G (p.Ile483Val)
|
|
|
NM_153704.6(TMEM67):c.145T>A (p.Cys49Ser)
|
|
|
NM_153704.6(TMEM67):c.1486G>A (p.Asp496Asn)
|
|
|
NM_153704.6(TMEM67):c.148G>A (p.Asp50Asn)
|
rs144253777
|
|
NM_153704.6(TMEM67):c.148G>C (p.Asp50His)
|
rs144253777
|
|
NM_153704.6(TMEM67):c.148G>T (p.Asp50Tyr)
|
|
|
NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu)
|
rs1486419446
|
|
NM_153704.6(TMEM67):c.1519G>T (p.Val507Phe)
|
|
|
NM_153704.6(TMEM67):c.151AAC[1] (p.Asn52del)
|
|
|
NM_153704.6(TMEM67):c.1529C>T (p.Ser510Leu)
|
rs1814362454
|
|
NM_153704.6(TMEM67):c.1544T>C (p.Met515Thr)
|
rs1329676384
|
|
NM_153704.6(TMEM67):c.1549C>G (p.His517Asp)
|
|
|
NM_153704.6(TMEM67):c.1559C>T (p.Ala520Val)
|
rs2130711278
|
|
NM_153704.6(TMEM67):c.1575+6T>G
|
rs2130711420
|
|
NM_153704.6(TMEM67):c.1580C>T (p.Ala527Val)
|
|
|
NM_153704.6(TMEM67):c.1584G>C (p.Leu528Phe)
|
rs1340120220
|
|
NM_153704.6(TMEM67):c.1589T>C (p.Val530Ala)
|
|
|
NM_153704.6(TMEM67):c.158A>G (p.Gln53Arg)
|
|
|
NM_153704.6(TMEM67):c.1594G>T (p.Gly532Cys)
|
|
|
NM_153704.6(TMEM67):c.159G>C (p.Gln53His)
|
|
|
NM_153704.6(TMEM67):c.1628C>T (p.Thr543Ile)
|
|
|
NM_153704.6(TMEM67):c.1652G>A (p.Gly551Glu)
|
rs2130719408
|
|
NM_153704.6(TMEM67):c.1661T>C (p.Met554Thr)
|
|
|
NM_153704.6(TMEM67):c.1662G>T (p.Met554Ile)
|
rs184632089
|
|
NM_153704.6(TMEM67):c.1674+3A>G
|
rs863225224
|
|
NM_153704.6(TMEM67):c.1674+5A>G
|
|
|
NM_153704.6(TMEM67):c.1674+5A>T
|
rs863224813
|
|
NM_153704.6(TMEM67):c.1675-6T>C
|
|
|
NM_153704.6(TMEM67):c.167A>G (p.Asp56Gly)
|
rs1812506710
|
|
NM_153704.6(TMEM67):c.167A>T (p.Asp56Val)
|
|
|
NM_153704.6(TMEM67):c.1697A>G (p.Tyr566Cys)
|
|
|
NM_153704.6(TMEM67):c.1732A>G (p.Ile578Val)
|
rs2130727646
|
|
NM_153704.6(TMEM67):c.1758G>T (p.Trp586Cys)
|
rs1814570287
|
|
NM_153704.6(TMEM67):c.1765T>C (p.Phe589Leu)
|
|
|
NM_153704.6(TMEM67):c.1773A>C (p.Lys591Asn)
|
rs2130727915
|
|
NM_153704.6(TMEM67):c.1775C>G (p.Ala592Gly)
|
|
|
NM_153704.6(TMEM67):c.1783T>C (p.Ser595Pro)
|
|
|
NM_153704.6(TMEM67):c.1786G>C (p.Val596Leu)
|
|
|
NM_153704.6(TMEM67):c.1786G>T (p.Val596Leu)
|
rs778478057
|
|
NM_153704.6(TMEM67):c.1806G>A (p.Met602Ile)
|
|
|
NM_153704.6(TMEM67):c.1825T>C (p.Phe609Leu)
|
|
|
NM_153704.6(TMEM67):c.182C>G (p.Ser61Trp)
|
|
|
NM_153704.6(TMEM67):c.1832C>T (p.Thr611Ile)
|
|
|
NM_153704.6(TMEM67):c.1864C>T (p.Leu622=)
|
|
|
NM_153704.6(TMEM67):c.1893G>C (p.Gln631His)
|
|
|
NM_153704.6(TMEM67):c.1906G>T (p.Val636Leu)
|
|
|
NM_153704.6(TMEM67):c.1913T>A (p.Phe638Tyr)
|
rs2130734310
|
|
NM_153704.6(TMEM67):c.1913T>C (p.Phe638Ser)
|
|
|
NM_153704.6(TMEM67):c.1942G>A (p.Val648Ile)
|
rs764882441
|
|
NM_153704.6(TMEM67):c.1961-3C>T
|
|
|
NM_153704.6(TMEM67):c.1961-7T>A
|
rs1563472215
|
|
NM_153704.6(TMEM67):c.1963G>A (p.Glu655Lys)
|
|
|
NM_153704.6(TMEM67):c.2001A>G (p.Ile667Met)
|
|
|
NM_153704.6(TMEM67):c.2016T>C (p.Phe672=)
|
|
|
NM_153704.6(TMEM67):c.2036A>G (p.Glu679Gly)
|
|
|
NM_153704.6(TMEM67):c.2042A>G (p.Gln681Arg)
|
|
|
NM_153704.6(TMEM67):c.2043G>T (p.Gln681His)
|
|
|
NM_153704.6(TMEM67):c.2065C>G (p.Leu689Val)
|
rs576166051
|
|
NM_153704.6(TMEM67):c.2089T>C (p.Phe697Leu)
|
|
|
NM_153704.6(TMEM67):c.210G>C (p.Arg70Ser)
|
rs2130523134
|
|
NM_153704.6(TMEM67):c.2135C>T (p.Ser712Leu)
|
|
|
NM_153704.6(TMEM67):c.2137TCT[1] (p.Ser715del)
|
|
|
NM_153704.6(TMEM67):c.2145T>G (p.Ser715Arg)
|
rs1814779822
|
|
NM_153704.6(TMEM67):c.2146C>A (p.Leu716Ile)
|
|
|
NM_153704.6(TMEM67):c.2159C>A (p.Pro720Gln)
|
|
|
NM_153704.6(TMEM67):c.2165G>C (p.Ser722Thr)
|
|
|
NM_153704.6(TMEM67):c.2166C>G (p.Ser722Arg)
|
|
|
NM_153704.6(TMEM67):c.2167T>C (p.Tyr723His)
|
rs576079013
|
|
NM_153704.6(TMEM67):c.217G>A (p.Ala73Thr)
|
|
|
NM_153704.6(TMEM67):c.2180A>G (p.Tyr727Cys)
|
|
|
NM_153704.6(TMEM67):c.223G>A (p.Gly75Arg)
|
|
|
NM_153704.6(TMEM67):c.224-2dup
|
|
|
NM_153704.6(TMEM67):c.2245G>A (p.Val749Met)
|
rs753896569
|
|
NM_153704.6(TMEM67):c.2263T>C (p.Tyr755His)
|
rs2130757495
|
|
NM_153704.6(TMEM67):c.2287A>G (p.Ile763Val)
|
|
|
NM_153704.6(TMEM67):c.2298C>G (p.Phe766Leu)
|
rs372104198
|
|
NM_153704.6(TMEM67):c.2322+4A>C
|
rs1386323468
|
|
NM_153704.6(TMEM67):c.2323-5_2323-4insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGGAGAGGGAGCGGGCGCCCGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACCTATTCTCTTTTT
|
rs2130763431
|
|
NM_153704.6(TMEM67):c.2325A>G (p.Ile775Met)
|
rs777320782
|
|
NM_153704.6(TMEM67):c.2336T>G (p.Leu779Arg)
|
rs2130763583
|
|
NM_153704.6(TMEM67):c.2341T>C (p.Ser781Pro)
|
|
|
NM_153704.6(TMEM67):c.2347A>G (p.Lys783Glu)
|
|
|
NM_153704.6(TMEM67):c.2348A>G (p.Lys783Arg)
|
|
|
NM_153704.6(TMEM67):c.2350T>G (p.Cys784Gly)
|
rs2130763694
|
|
NM_153704.6(TMEM67):c.2351G>A (p.Cys784Tyr)
|
rs1328212583
|
|
NM_153704.6(TMEM67):c.2385T>A (p.His795Gln)
|
|
|
NM_153704.6(TMEM67):c.2407G>A (p.Glu803Lys)
|
|
|
NM_153704.6(TMEM67):c.2425C>G (p.Leu809Val)
|
|
|
NM_153704.6(TMEM67):c.2440-5T>C
|
rs2130780220
|
|
NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr)
|
rs2130780313
|
|
NM_153704.6(TMEM67):c.2515A>C (p.Met839Leu)
|
rs1041608878
|
|
NM_153704.6(TMEM67):c.2576T>A (p.Leu859Gln)
|
|
|
NM_153704.6(TMEM67):c.2600T>C (p.Phe867Ser)
|
rs1563481582
|
|
NM_153704.6(TMEM67):c.2627T>C (p.Met876Thr)
|
rs528989414
|
|
NM_153704.6(TMEM67):c.2635A>G (p.Lys879Glu)
|
|
|
NM_153704.6(TMEM67):c.2654T>C (p.Ile885Thr)
|
rs1563481671
|
|
NM_153704.6(TMEM67):c.2659C>A (p.His887Asn)
|
|
|
NM_153704.6(TMEM67):c.2660A>G (p.His887Arg)
|
|
|
NM_153704.6(TMEM67):c.2661+3A>G
|
rs568703831
|
|
NM_153704.6(TMEM67):c.2662G>T (p.Val888Phe)
|
rs1586091861
|
|
NM_153704.6(TMEM67):c.2680T>A (p.Tyr894Asn)
|
rs1170985091
|
|
NM_153704.6(TMEM67):c.2685T>A (p.Phe895Leu)
|
rs1808622944
|
|
NM_153704.6(TMEM67):c.2701CTT[1] (p.Leu902del)
|
rs2130783329
|
|
NM_153704.6(TMEM67):c.2716C>T (p.Leu906Phe)
|
rs200477047
|
|
NM_153704.6(TMEM67):c.2725G>C (p.Glu909Gln)
|
rs878855230
|
|
NM_153704.6(TMEM67):c.2737C>A (p.Pro913Thr)
|
rs1254095209
|
|
NM_153704.6(TMEM67):c.2744A>T (p.Glu915Val)
|
rs1450784678
|
|
NM_153704.6(TMEM67):c.2769A>T (p.Glu923Asp)
|
|
|
NM_153704.6(TMEM67):c.2771G>A (p.Gly924Asp)
|
|
|
NM_153704.6(TMEM67):c.2774A>T (p.Tyr925Phe)
|
rs376103225
|
|
NM_153704.6(TMEM67):c.2776T>C (p.Ser926Pro)
|
rs763360678
|
|
NM_153704.6(TMEM67):c.2777C>A (p.Ser926Tyr)
|
rs1808863667
|
|
NM_153704.6(TMEM67):c.2787T>G (p.Ser929Arg)
|
rs1197717166
|
|
NM_153704.6(TMEM67):c.2827G>T (p.Asp943Tyr)
|
rs2130799791
|
|
NM_153704.6(TMEM67):c.283A>G (p.Ile95Val)
|
rs758638902
|
|
NM_153704.6(TMEM67):c.2858C>T (p.Ala953Val)
|
|
|
NM_153704.6(TMEM67):c.2861G>C (p.Cys954Ser)
|
rs537935631
|
|
NM_153704.6(TMEM67):c.288T>G (p.Ile96Met)
|
rs1812547985
|
|
NM_153704.6(TMEM67):c.2918A>G (p.Tyr973Cys)
|
|
|
NM_153704.6(TMEM67):c.2924G>T (p.Arg975Leu)
|
rs191759530
|
|
NM_153704.6(TMEM67):c.2933T>C (p.Val978Ala)
|
|
|
NM_153704.6(TMEM67):c.2942A>G (p.Lys981Arg)
|
rs2130802666
|
|
NM_153704.6(TMEM67):c.2981_2982insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCAAAGATTTTT (p.Leu994delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
|
rs2130802792
|
|
NM_153704.6(TMEM67):c.2982G>T (p.Leu994Phe)
|
|
|
NM_153704.6(TMEM67):c.308A>G (p.Asn103Ser)
|
rs1289474043
|
|
NM_153704.6(TMEM67):c.312+3G>A
|
rs1404637051
|
|
NM_153704.6(TMEM67):c.317G>A (p.Gly106Asp)
|
rs1812680811
|
|
NM_153704.6(TMEM67):c.319G>A (p.Val107Ile)
|
|
|
NM_153704.6(TMEM67):c.32T>A (p.Met11Lys)
|
rs544982647
|
|
NM_153704.6(TMEM67):c.355A>G (p.Ser119Gly)
|
|
|
NM_153704.6(TMEM67):c.361T>G (p.Leu121Val)
|
rs934823566
|
|
NM_153704.6(TMEM67):c.376A>C (p.Lys126Gln)
|
rs2130545126
|
|
NM_153704.6(TMEM67):c.392T>C (p.Ile131Thr)
|
rs2130545286
|
|
NM_153704.6(TMEM67):c.401T>C (p.Ile134Thr)
|
|
|
NM_153704.6(TMEM67):c.406+4A>G
|
|
|
NM_153704.6(TMEM67):c.407-8C>G
|
rs778605297
|
|
NM_153704.6(TMEM67):c.407T>C (p.Val136Ala)
|
rs2130576247
|
|
NM_153704.6(TMEM67):c.429_431del (p.Leu145del)
|
|
|
NM_153704.6(TMEM67):c.443C>A (p.Ala148Glu)
|
rs1563679408
|
|
NM_153704.6(TMEM67):c.454C>T (p.Leu152Phe)
|
rs1563679425
|
|
NM_153704.6(TMEM67):c.463G>A (p.Gly155Arg)
|
|
|
NM_153704.6(TMEM67):c.476C>T (p.Ser159Phe)
|
|
|
NM_153704.6(TMEM67):c.485T>C (p.Val162Ala)
|
|
|
NM_153704.6(TMEM67):c.497T>C (p.Leu166Ser)
|
rs1812963679
|
|
NM_153704.6(TMEM67):c.499G>A (p.Gly167Arg)
|
rs2130576945
|
|
NM_153704.6(TMEM67):c.506+5G>A
|
|
|
NM_153704.6(TMEM67):c.531T>G (p.Phe177Leu)
|
rs1813038272
|
|
NM_153704.6(TMEM67):c.55G>T (p.Ala19Ser)
|
rs1300371747
|
|
NM_153704.6(TMEM67):c.565C>T (p.Pro189Ser)
|
|
|
NM_153704.6(TMEM67):c.56C>A (p.Ala19Asp)
|
|
|
NM_153704.6(TMEM67):c.577-12T>A
|
|
|
NM_153704.6(TMEM67):c.588A>T (p.Leu196Phe)
|
|
|
NM_153704.6(TMEM67):c.619C>T (p.Arg207Cys)
|
|
|
NM_153704.6(TMEM67):c.651+8T>C
|
|
|
NM_153704.6(TMEM67):c.675G>C (p.Trp225Cys)
|
|
|
NM_153704.6(TMEM67):c.679G>A (p.Ala227Thr)
|
rs767886819
|
|
NM_153704.6(TMEM67):c.67A>G (p.Thr23Ala)
|
rs2130521457
|
|
NM_153704.6(TMEM67):c.67A>T (p.Thr23Ser)
|
|
|
NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg)
|
rs143495661
|
|
NM_153704.6(TMEM67):c.695C>T (p.Ser232Leu)
|
rs2130622470
|
|
NM_153704.6(TMEM67):c.714+4A>G
|
|
|
NM_153704.6(TMEM67):c.71C>T (p.Ala24Val)
|
|
|
NM_153704.6(TMEM67):c.722C>T (p.Ala241Val)
|
rs115766095
|
|
NM_153704.6(TMEM67):c.731C>T (p.Thr244Ile)
|
rs1405448469
|
|
NM_153704.6(TMEM67):c.756G>C (p.Met252Ile)
|
rs2130662628
|
|
NM_153704.6(TMEM67):c.757T>G (p.Cys253Gly)
|
|
|
NM_153704.6(TMEM67):c.793T>G (p.Phe265Val)
|
|
|
NM_153704.6(TMEM67):c.796G>C (p.Asp266His)
|
|
|
NM_153704.6(TMEM67):c.816G>C (p.Gln272His)
|
|
|
NM_153704.6(TMEM67):c.820A>C (p.Ile274Leu)
|
rs748922044
|
|
NM_153704.6(TMEM67):c.848C>T (p.Thr283Ile)
|
rs747533371
|
|
NM_153704.6(TMEM67):c.854A>T (p.His285Leu)
|
|
|
NM_153704.6(TMEM67):c.859A>G (p.Ile287Val)
|
|
|
NM_153704.6(TMEM67):c.869+3A>T
|
rs1813784101
|
|
NM_153704.6(TMEM67):c.905A>G (p.Gln302Arg)
|
rs2130664380
|
|
NM_153704.6(TMEM67):c.92C>T (p.Pro31Leu)
|
|
|
NM_153704.6(TMEM67):c.937A>G (p.Thr313Ala)
|
|
|
NM_153704.6(TMEM67):c.949A>T (p.Thr317Ser)
|
|
|
NM_153704.6(TMEM67):c.94C>A (p.Arg32Ser)
|
|
|
NM_153704.6(TMEM67):c.952A>G (p.Asn318Asp)
|
|
|
NM_153704.6(TMEM67):c.970G>A (p.Glu324Lys)
|
|
|
NM_153704.6(TMEM67):c.978+3A>G
|
rs775256658
|
|
NM_153704.6(TMEM67):c.982A>T (p.Thr328Ser)
|
rs2130668443
|
|
NM_153704.6(TMEM67):c.995T>G (p.Phe332Cys)
|
rs2130668557
|
|
NM_153717.3(EVC):c.1031T>C (p.Met344Thr)
|
|
|
NM_153717.3(EVC):c.104G>A (p.Gly35Asp)
|
rs1560259105
|
|
NM_153717.3(EVC):c.1050G>C (p.Met350Ile)
|
rs1729670311
|
|
NM_153717.3(EVC):c.1060G>A (p.Glu354Lys)
|
|
|
NM_153717.3(EVC):c.1119G>A (p.Met373Ile)
|
rs1397539769
|
|
NM_153717.3(EVC):c.1123C>T (p.Arg375Trp)
|
|
|
NM_153717.3(EVC):c.1141G>A (p.Val381Met)
|
rs2152076238
|
|
NM_153717.3(EVC):c.114CGGCCT[1] (p.39GL[1])
|
rs1164121689
|
|
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4])
|
rs1164121689
|
|
NM_153717.3(EVC):c.1186C>G (p.Arg396Gly)
|
|
|
NM_153717.3(EVC):c.1186C>T (p.Arg396Trp)
|
|
|
NM_153717.3(EVC):c.1187G>A (p.Arg396Gln)
|
|
|
NM_153717.3(EVC):c.1207G>A (p.Gly403Ser)
|
|
|
NM_153717.3(EVC):c.1207G>C (p.Gly403Arg)
|
|
|
NM_153717.3(EVC):c.1226G>T (p.Gly409Val)
|
rs1577440027
|
|
NM_153717.3(EVC):c.1232G>A (p.Gly411Glu)
|
|
|
NM_153717.3(EVC):c.1268C>T (p.Thr423Met)
|
|
|
NM_153717.3(EVC):c.1312C>T (p.Arg438Trp)
|
|
|
NM_153717.3(EVC):c.1336G>T (p.Asp446Tyr)
|
|
|
NM_153717.3(EVC):c.1379C>T (p.Ala460Val)
|
rs1309149029
|
|
NM_153717.3(EVC):c.1388C>G (p.Thr463Arg)
|
|
|
NM_153717.3(EVC):c.1409_1420dup (p.Phe473_Leu474insGlnArgSerPhe)
|
|
|
NM_153717.3(EVC):c.1441G>C (p.Ala481Pro)
|
|
|
NM_153717.3(EVC):c.1454A>C (p.Lys485Thr)
|
|
|
NM_153717.3(EVC):c.1481T>C (p.Leu494Pro)
|
|
|
NM_153717.3(EVC):c.1493G>T (p.Arg498Met)
|
rs1577453796
|
|
NM_153717.3(EVC):c.1495C>G (p.Leu499Val)
|
|
|
NM_153717.3(EVC):c.1520A>G (p.Glu507Gly)
|
|
|
NM_153717.3(EVC):c.1528G>C (p.Val510Leu)
|
rs143971158
|
|
NM_153717.3(EVC):c.1603G>A (p.Val535Met)
|
rs753720935
|
|
NM_153717.3(EVC):c.1607A>T (p.Asp536Val)
|
|
|
NM_153717.3(EVC):c.1623G>T (p.Gln541His)
|
|
|
NM_153717.3(EVC):c.1625C>T (p.Thr542Met)
|
|
|
NM_153717.3(EVC):c.1631C>T (p.Pro544Leu)
|
|
|
NM_153717.3(EVC):c.1648C>G (p.Pro550Ala)
|
|
|
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg)
|
rs371682994
|
|
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)
|
|
|
NM_153717.3(EVC):c.1673G>T (p.Arg558Met)
|
|
|
NM_153717.3(EVC):c.1687G>A (p.Glu563Lys)
|
rs539010490
|
|
NM_153717.3(EVC):c.1720C>G (p.Arg574Gly)
|
rs141820870
|
|
NM_153717.3(EVC):c.1727G>T (p.Arg576Leu)
|
rs1383180
|
|
NM_153717.3(EVC):c.1737G>T (p.Gln579His)
|
|
|
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu)
|
rs1736003818
|
|
NM_153717.3(EVC):c.1787A>C (p.Glu596Ala)
|
|
|
NM_153717.3(EVC):c.1802C>T (p.Ser601Phe)
|
rs1713205522
|
|
NM_153717.3(EVC):c.1804A>C (p.Ser602Arg)
|
|
|
NM_153717.3(EVC):c.1844C>A (p.Thr615Asn)
|
|
|
NM_153717.3(EVC):c.1854_1855delinsTA (p.Val619Ile)
|
|
|
NM_153717.3(EVC):c.1894C>T (p.Arg632Trp)
|
|
|
NM_153717.3(EVC):c.1895G>A (p.Arg632Gln)
|
|
|
NM_153717.3(EVC):c.1895G>C (p.Arg632Pro)
|
rs535632933
|
|
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg)
|
rs757227773
|
|
NM_153717.3(EVC):c.1939C>T (p.Arg647Trp)
|
|
|
NM_153717.3(EVC):c.193C>A (p.Leu65Met)
|
|
|
NM_153717.3(EVC):c.1940G>C (p.Arg647Pro)
|
rs35401386
|
|
NM_153717.3(EVC):c.1949C>T (p.Ala650Val)
|
|
|
NM_153717.3(EVC):c.1972A>T (p.Thr658Ser)
|
rs1577616840
|
|
NM_153717.3(EVC):c.2009T>A (p.Leu670His)
|
|
|
NM_153717.3(EVC):c.2068G>A (p.Glu690Lys)
|
|
|
NM_153717.3(EVC):c.2096T>C (p.Leu699Pro)
|
rs2152340934
|
|
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly)
|
rs545087909
|
|
NM_153717.3(EVC):c.2105G>A (p.Arg702His)
|
|
|
NM_153717.3(EVC):c.2131G>C (p.Glu711Gln)
|
rs1430134537
|
|
NM_153717.3(EVC):c.2134G>A (p.Glu712Lys)
|
|
|
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
|
|
|
NM_153717.3(EVC):c.218C>T (p.Ala73Val)
|
rs1361442490
|
|
NM_153717.3(EVC):c.2227G>A (p.Ala743Thr)
|
|
|
NM_153717.3(EVC):c.2231T>C (p.Ile744Thr)
|
|
|
NM_153717.3(EVC):c.2240C>T (p.Ala747Val)
|
|
|
NM_153717.3(EVC):c.2257C>T (p.Arg753Trp)
|
|
|
NM_153717.3(EVC):c.226C>G (p.Pro76Ala)
|
|
|
NM_153717.3(EVC):c.2274G>C (p.Lys758Asn)
|
|
|
NM_153717.3(EVC):c.230C>T (p.Ser77Leu)
|
|
|
NM_153717.3(EVC):c.2321C>T (p.Ala774Val)
|
|
|
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser)
|
rs773252806
|
|
NM_153717.3(EVC):c.2339A>G (p.Tyr780Cys)
|
|
|
NM_153717.3(EVC):c.2350G>T (p.Ala784Ser)
|
rs149537641
|
|
NM_153717.3(EVC):c.235A>G (p.Thr79Ala)
|
|
|
NM_153717.3(EVC):c.2368G>A (p.Val790Met)
|
|
|
NM_153717.3(EVC):c.2375C>T (p.Ala792Val)
|
|
|
NM_153717.3(EVC):c.2424A>T (p.Lys808Asn)
|
|
|
NM_153717.3(EVC):c.2449+5G>A
|
|
|
NM_153717.3(EVC):c.2476C>T (p.Arg826Trp)
|
|
|
NM_153717.3(EVC):c.2497A>G (p.Asn833Asp)
|
|
|
NM_153717.3(EVC):c.2510G>A (p.Gly837Asp)
|
|
|
NM_153717.3(EVC):c.2524G>A (p.Gly842Ser)
|
rs1446692986
|
|
NM_153717.3(EVC):c.2525G>A (p.Gly842Asp)
|
|
|
NM_153717.3(EVC):c.2527G>A (p.Gly843Ser)
|
|
|
NM_153717.3(EVC):c.2530G>A (p.Ala844Thr)
|
|
|
NM_153717.3(EVC):c.2549C>T (p.Ala850Val)
|
|
|
NM_153717.3(EVC):c.2580G>C (p.Lys860Asn)
|
|
|
NM_153717.3(EVC):c.2617C>T (p.Arg873Cys)
|
|
|
NM_153717.3(EVC):c.2641G>T (p.Ala881Ser)
|
|
|
NM_153717.3(EVC):c.2689-8C>G
|
|
|
NM_153717.3(EVC):c.2714A>G (p.Glu905Gly)
|
|
|
NM_153717.3(EVC):c.2743G>C (p.Ala915Pro)
|
|
|
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln)
|
rs1489027267
|
|
NM_153717.3(EVC):c.2783-3C>A
|
|
|
NM_153717.3(EVC):c.2842G>A (p.Val948Met)
|
|
|
NM_153717.3(EVC):c.2842del (p.Val948fs)
|
|
|
NM_153717.3(EVC):c.2858A>T (p.Asp953Val)
|
|
|
NM_153717.3(EVC):c.2859C>A (p.Asp953Glu)
|
|
|
NM_153717.3(EVC):c.2863G>T (p.Ala955Ser)
|
rs2152394584
|
|
NM_153717.3(EVC):c.2878A>G (p.Thr960Ala)
|
rs2152394644
|
|
NM_153717.3(EVC):c.2879C>G (p.Thr960Ser)
|
rs780548102
|
|
NM_153717.3(EVC):c.2885G>T (p.Gly962Val)
|
|
|
NM_153717.3(EVC):c.2894+18_2894+19delinsGA
|
|
|
NM_153717.3(EVC):c.2894+4T>A
|
rs746636411
|
|
NM_153717.3(EVC):c.2927C>T (p.Ala976Val)
|
|
|
NM_153717.3(EVC):c.2932G>A (p.Asp978Asn)
|
|
|
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr)
|
rs150173231
|
|
NM_153717.3(EVC):c.2964AAG[1] (p.Arg989del)
|
|
|
NM_153717.3(EVC):c.2970C>A (p.Ser990Arg)
|
rs1716842535
|
|
NM_153717.3(EVC):c.300+3A>G
|
|
|
NM_153717.3(EVC):c.34G>C (p.Ala12Pro)
|
rs1369066723
|
|
NM_153717.3(EVC):c.385-3C>T
|
rs2151934859
|
|
NM_153717.3(EVC):c.410C>T (p.Pro137Leu)
|
|
|
NM_153717.3(EVC):c.437C>G (p.Ala146Gly)
|
rs2151935147
|
|
NM_153717.3(EVC):c.499G>A (p.Gly167Ser)
|
|
|
NM_153717.3(EVC):c.49G>T (p.Gly17Trp)
|
|
|
NM_153717.3(EVC):c.511G>A (p.Asp171Asn)
|
|
|
NM_153717.3(EVC):c.535C>T (p.His179Tyr)
|
|
|
NM_153717.3(EVC):c.53G>T (p.Arg18Leu)
|
|
|
NM_153717.3(EVC):c.547A>G (p.Ser183Gly)
|
|
|
NM_153717.3(EVC):c.581G>C (p.Arg194Pro)
|
rs777256784
|
|
NM_153717.3(EVC):c.587A>G (p.Asn196Ser)
|
|
|
NM_153717.3(EVC):c.589G>A (p.Ala197Thr)
|
|
|
NM_153717.3(EVC):c.58G>C (p.Ala20Pro)
|
rs1359522467
|
|
NM_153717.3(EVC):c.632T>A (p.Leu211Gln)
|
|
|
NM_153717.3(EVC):c.65G>C (p.Arg22Pro)
|
rs2151767266
|
|
NM_153717.3(EVC):c.696G>C (p.Lys232Asn)
|
rs371664035
|
|
NM_153717.3(EVC):c.698A>C (p.His233Pro)
|
|
|
NM_153717.3(EVC):c.698A>G (p.His233Arg)
|
rs769431829
|
|
NM_153717.3(EVC):c.700A>G (p.Met234Val)
|
|
|
NM_153717.3(EVC):c.719T>G (p.Phe240Cys)
|
rs2152000493
|
|
NM_153717.3(EVC):c.726G>A (p.Met242Ile)
|
|
|
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro)
|
rs529818833
|
|
NM_153717.3(EVC):c.734T>A (p.Leu245His)
|
|
|
NM_153717.3(EVC):c.736G>T (p.Asp246Tyr)
|
|
|
NM_153717.3(EVC):c.76G>T (p.Ala26Ser)
|
|
|
NM_153717.3(EVC):c.809A>C (p.Glu270Ala)
|
rs1428021249
|
|
NM_153717.3(EVC):c.823G>A (p.Gly275Arg)
|
|
|
NM_153717.3(EVC):c.857C>G (p.Ser286Trp)
|
rs139263450
|
|
NM_153717.3(EVC):c.866G>A (p.Gly289Asp)
|
|
|
NM_153717.3(EVC):c.935A>G (p.Asp312Gly)
|
|
|
NM_153717.3(EVC):c.939T>A (p.Asn313Lys)
|
rs764394644
|
|
NM_153717.3(EVC):c.940A>G (p.Met314Val)
|
rs557010916
|
|
NM_170784.3(MKKS):c.1037G>A (p.Ser346Asn)
|
|
|
NM_170784.3(MKKS):c.1073A>G (p.Lys358Arg)
|
rs1455491260
|
|
NM_170784.3(MKKS):c.1088T>C (p.Leu363Pro)
|
rs2064859899
|
|
NM_170784.3(MKKS):c.1111T>A (p.Cys371Ser)
|
rs144892179
|
|
NM_170784.3(MKKS):c.1183C>T (p.His395Tyr)
|
|
|
NM_170784.3(MKKS):c.1189C>G (p.Leu397Val)
|
|
|
NM_170784.3(MKKS):c.1213T>C (p.Trp405Arg)
|
|
|
NM_170784.3(MKKS):c.1267C>T (p.His423Tyr)
|
rs2122223791
|
|
NM_170784.3(MKKS):c.1272+6T>C
|
rs2064851919
|
|
NM_170784.3(MKKS):c.128T>G (p.Leu43Arg)
|
rs1364157544
|
|
NM_170784.3(MKKS):c.1304A>T (p.Asp435Val)
|
|
|
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly)
|
rs746696111
|
|
NM_170784.3(MKKS):c.1307A>T (p.Asp436Val)
|
rs746696111
|
|
NM_170784.3(MKKS):c.1312T>G (p.Cys438Gly)
|
|
|
NM_170784.3(MKKS):c.1333T>A (p.Leu445Ile)
|
rs754132134
|
|
NM_170784.3(MKKS):c.1334T>C (p.Leu445Ser)
|
rs1057516054
|
|
NM_170784.3(MKKS):c.1372G>T (p.Val458Phe)
|
rs1600843195
|
|
NM_170784.3(MKKS):c.1402A>G (p.Ile468Val)
|
|
|
NM_170784.3(MKKS):c.1432T>A (p.Trp478Arg)
|
|
|
NM_170784.3(MKKS):c.1438G>A (p.Val480Ile)
|
|
|
NM_170784.3(MKKS):c.1445C>A (p.Ala482Glu)
|
|
|
NM_170784.3(MKKS):c.1447G>T (p.Asp483Tyr)
|
|
|
NM_170784.3(MKKS):c.1470G>T (p.Trp490Cys)
|
rs2122219766
|
|
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn)
|
rs142327258
|
|
NM_170784.3(MKKS):c.1474G>C (p.Asp492His)
|
rs142327258
|
|
NM_170784.3(MKKS):c.1534T>A (p.Phe512Ile)
|
rs772349046
|
|
NM_170784.3(MKKS):c.1550G>A (p.Arg517His)
|
|
|
NM_170784.3(MKKS):c.1573dup (p.Cys525fs)
|
rs2122219488
|
|
NM_170784.3(MKKS):c.1576C>A (p.Leu526Ile)
|
rs1239900206
|
|
NM_170784.3(MKKS):c.1580C>T (p.Pro527Leu)
|
rs2122219454
|
|
NM_170784.3(MKKS):c.1582_1587del (p.His528_Glu529del)
|
rs2122219438
|
|
NM_170784.3(MKKS):c.1583A>G (p.His528Arg)
|
|
|
NM_170784.3(MKKS):c.1589C>T (p.Ala530Val)
|
rs2122219422
|
|
NM_170784.3(MKKS):c.1591G>C (p.Val531Leu)
|
rs750705949
|
|
NM_170784.3(MKKS):c.1604G>A (p.Ser535Asn)
|
|
|
NM_170784.3(MKKS):c.1605C>G (p.Ser535Arg)
|
rs889037739
|
|
NM_170784.3(MKKS):c.1639A>G (p.Ser547Gly)
|
rs149095209
|
|
NM_170784.3(MKKS):c.1649A>C (p.Gln550Pro)
|
|
|
NM_170784.3(MKKS):c.164G>C (p.Cys55Ser)
|
|
|
NM_170784.3(MKKS):c.1654G>A (p.Ala552Thr)
|
rs532487848
|
|
NM_170784.3(MKKS):c.1664C>G (p.Thr555Arg)
|
rs369472120
|
|
NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser)
|
rs554429487
|
|
NM_170784.3(MKKS):c.1682A>T (p.Asp561Val)
|
rs2064833443
|
|
NM_170784.3(MKKS):c.191T>C (p.Leu64Pro)
|
|
|
NM_170784.3(MKKS):c.251A>C (p.His84Pro)
|
rs2064908864
|
|
NM_170784.3(MKKS):c.259A>G (p.Ser87Gly)
|
|
|
NM_170784.3(MKKS):c.302A>G (p.Asn101Ser)
|
|
|
NM_170784.3(MKKS):c.302A>T (p.Asn101Ile)
|
rs776936558
|
|
NM_170784.3(MKKS):c.334A>T (p.Thr112Ser)
|
|
|
NM_170784.3(MKKS):c.335C>G (p.Thr112Arg)
|
|
|
NM_170784.3(MKKS):c.409G>A (p.Gly137Ser)
|
rs1222401134
|
|
NM_170784.3(MKKS):c.40A>T (p.Ser14Cys)
|
rs2064912754
|
|
NM_170784.3(MKKS):c.425T>C (p.Val142Ala)
|
rs863224773
|
|
NM_170784.3(MKKS):c.469A>G (p.Ile157Val)
|
|
|
NM_170784.3(MKKS):c.47C>T (p.Pro16Leu)
|
|
|
NM_170784.3(MKKS):c.511A>G (p.Thr171Ala)
|
|
|
NM_170784.3(MKKS):c.538A>G (p.Arg180Gly)
|
rs1331122376
|
|
NM_170784.3(MKKS):c.53C>T (p.Thr18Ile)
|
|
|
NM_170784.3(MKKS):c.573A>C (p.Glu191Asp)
|
|
|
NM_170784.3(MKKS):c.602T>C (p.Ile201Thr)
|
|
|
NM_170784.3(MKKS):c.607C>T (p.Pro203Ser)
|
|
|
NM_170784.3(MKKS):c.628A>G (p.Ile210Val)
|
|
|
NM_170784.3(MKKS):c.64G>A (p.Val22Ile)
|
|
|
NM_170784.3(MKKS):c.659T>C (p.Ile220Thr)
|
|
|
NM_170784.3(MKKS):c.65T>A (p.Val22Asp)
|
|
|
NM_170784.3(MKKS):c.676C>G (p.Gln226Glu)
|
|
|
NM_170784.3(MKKS):c.689T>A (p.Leu230Gln)
|
rs2122234625
|
|
NM_170784.3(MKKS):c.69G>C (p.Arg23Ser)
|
|
|
NM_170784.3(MKKS):c.715C>T (p.Leu239Phe)
|
rs2064901215
|
|
NM_170784.3(MKKS):c.727C>T (p.Leu243Phe)
|
rs2064900976
|
|
NM_170784.3(MKKS):c.744A>T (p.Leu248Phe)
|
rs2122234451
|
|
NM_170784.3(MKKS):c.746C>T (p.Ser249Phe)
|
|
|
NM_170784.3(MKKS):c.751G>C (p.Asp251His)
|
rs2064900610
|
|
NM_170784.3(MKKS):c.763A>G (p.Thr255Ala)
|
|
|
NM_170784.3(MKKS):c.764C>T (p.Thr255Ile)
|
rs2064900423
|
|
NM_170784.3(MKKS):c.76C>G (p.Leu26Val)
|
|
|
NM_170784.3(MKKS):c.787A>T (p.Ser263Cys)
|
rs764332400
|
|
NM_170784.3(MKKS):c.796G>T (p.Val266Phe)
|
rs2064899855
|
|
NM_170784.3(MKKS):c.820G>A (p.Asp274Asn)
|
rs2064899452
|
|
NM_170784.3(MKKS):c.825G>T (p.Gln275His)
|
|
|
NM_170784.3(MKKS):c.832A>G (p.Asn278Asp)
|
rs578252932
|
|
NM_170784.3(MKKS):c.842G>C (p.Arg281Thr)
|
|
|
NM_170784.3(MKKS):c.859C>A (p.His287Asn)
|
|
|
NM_170784.3(MKKS):c.875T>G (p.Leu292Arg)
|
|
|
NM_170784.3(MKKS):c.889A>G (p.Ile297Val)
|
|
|
NM_170784.3(MKKS):c.891A>G (p.Ile297Met)
|
rs2064898329
|
|
NM_170784.3(MKKS):c.8G>C (p.Arg3Pro)
|
rs770619894
|
|
NM_170784.3(MKKS):c.922C>A (p.His308Asn)
|
rs1600848359
|
|
NM_170784.3(MKKS):c.937A>G (p.Ile313Val)
|
|
|
NM_170784.3(MKKS):c.94A>G (p.Ile32Val)
|
rs578110162
|
|
NM_170784.3(MKKS):c.955A>T (p.Thr319Ser)
|
|
|
NM_170784.3(MKKS):c.957_958insATGGCA (p.Thr319_Leu320insMetAla)
|
|
|
NM_176824.3(BBS7):c.1024A>G (p.Ile342Val)
|
rs1726067128
|
|
NM_176824.3(BBS7):c.1037+5C>T
|
rs749266895
|
|
NM_176824.3(BBS7):c.1038G>A (p.Arg346=)
|
rs989502021
|
|
NM_176824.3(BBS7):c.1052A>G (p.His351Arg)
|
|
|
NM_176824.3(BBS7):c.1052A>T (p.His351Leu)
|
rs940315256
|
|
NM_176824.3(BBS7):c.1087T>C (p.Tyr363His)
|
rs2149068941
|
|
NM_176824.3(BBS7):c.1100C>T (p.Ser367Phe)
|
|
|
NM_176824.3(BBS7):c.1160T>C (p.Leu387Pro)
|
rs2149068760
|
|
NM_176824.3(BBS7):c.1198G>A (p.Val400Ile)
|
|
|
NM_176824.3(BBS7):c.1207G>A (p.Ala403Thr)
|
rs761858167
|
|
NM_176824.3(BBS7):c.1214A>G (p.Asp405Gly)
|
|
|
NM_176824.3(BBS7):c.1231-3T>C
|
rs1725872645
|
|
NM_176824.3(BBS7):c.1237G>A (p.Val413Ile)
|
rs2149066894
|
|
NM_176824.3(BBS7):c.1243A>C (p.Ile415Leu)
|
rs1299054607
|
|
NM_176824.3(BBS7):c.127G>A (p.Val43Ile)
|
|
|
NM_176824.3(BBS7):c.1289G>A (p.Ser430Asn)
|
rs1410107664
|
|
NM_176824.3(BBS7):c.1312G>A (p.Asp438Asn)
|
|
|
NM_176824.3(BBS7):c.1327G>A (p.Ala443Thr)
|
|
|
NM_176824.3(BBS7):c.1334A>C (p.Tyr445Ser)
|
|
|
NM_176824.3(BBS7):c.1334A>T (p.Tyr445Phe)
|
rs776931328
|
|
NM_176824.3(BBS7):c.1340G>T (p.Cys447Phe)
|
rs2149061880
|
|
NM_176824.3(BBS7):c.136T>G (p.Cys46Gly)
|
|
|
NM_176824.3(BBS7):c.1375C>A (p.Arg459Ser)
|
rs150743868
|
|
NM_176824.3(BBS7):c.1451G>A (p.Arg484His)
|
rs200720761
|
|
NM_176824.3(BBS7):c.1451G>C (p.Arg484Pro)
|
rs200720761
|
|
NM_176824.3(BBS7):c.1457A>G (p.Tyr486Cys)
|
rs2149056521
|
|
NM_176824.3(BBS7):c.1459C>A (p.His487Asn)
|
rs1725389767
|
|
NM_176824.3(BBS7):c.148A>G (p.Lys50Glu)
|
rs1727082207
|
|
NM_176824.3(BBS7):c.1504C>T (p.His502Tyr)
|
rs2149056423
|
|
NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser)
|
rs763160690
|
|
NM_176824.3(BBS7):c.1522A>G (p.Thr508Ala)
|
|
|
NM_176824.3(BBS7):c.1558G>A (p.Val520Ile)
|
rs1211533033
|
|
NM_176824.3(BBS7):c.1604C>T (p.Pro535Leu)
|
rs1725285743
|
|
NM_176824.3(BBS7):c.1607C>T (p.Pro536Leu)
|
|
|
NM_176824.3(BBS7):c.1641C>G (p.Asn547Lys)
|
|
|
NM_176824.3(BBS7):c.165+5G>C
|
rs760257318
|
|
NM_176824.3(BBS7):c.166G>T (p.Ala56Ser)
|
rs1407094427
|
|
NM_176824.3(BBS7):c.1677-11T>G
|
|
|
NM_176824.3(BBS7):c.1712C>T (p.Ser571Phe)
|
rs1295543172
|
|
NM_176824.3(BBS7):c.1764A>G (p.Lys588=)
|
|
|
NM_176824.3(BBS7):c.1785C>T (p.Tyr595=)
|
|
|
NM_176824.3(BBS7):c.1787-11A>G
|
|
|
NM_176824.3(BBS7):c.1788G>T (p.Glu596Asp)
|
|
|
NM_176824.3(BBS7):c.1825A>G (p.Ile609Val)
|
|
|
NM_176824.3(BBS7):c.1890+2dup
|
|
|
NM_176824.3(BBS7):c.1890+6T>C
|
rs1553930514
|
|
NM_176824.3(BBS7):c.1923T>A (p.Phe641Leu)
|
|
|
NM_176824.3(BBS7):c.1970A>G (p.Gln657Arg)
|
rs1724997637
|
|
NM_176824.3(BBS7):c.1975G>C (p.Glu659Gln)
|
|
|
NM_176824.3(BBS7):c.1978T>C (p.Tyr660His)
|
|
|
NM_176824.3(BBS7):c.2007A>T (p.Arg669Ser)
|
|
|
NM_176824.3(BBS7):c.2015G>T (p.Gly672Val)
|
|
|
NM_176824.3(BBS7):c.2035A>G (p.Ile679Val)
|
|
|
NM_176824.3(BBS7):c.2042A>C (p.Lys681Thr)
|
|
|
NM_176824.3(BBS7):c.2046T>G (p.Phe682Leu)
|
|
|
NM_176824.3(BBS7):c.2057G>A (p.Gly686Asp)
|
|
|
NM_176824.3(BBS7):c.2062A>T (p.Asn688Tyr)
|
rs2149045701
|
|
NM_176824.3(BBS7):c.2074A>G (p.Lys692Glu)
|
rs1724883700
|
|
NM_176824.3(BBS7):c.2083C>A (p.Leu695Ile)
|
|
|
NM_176824.3(BBS7):c.2105G>T (p.Ser702Ile)
|
|
|
NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg)
|
rs1229720963
|
|
NM_176824.3(BBS7):c.214G>A (p.Gly72Arg)
|
|
|
NM_176824.3(BBS7):c.22A>G (p.Met8Val)
|
rs757370927
|
|
NM_176824.3(BBS7):c.22A>T (p.Met8Leu)
|
rs757370927
|
|
NM_176824.3(BBS7):c.268A>G (p.Ile90Val)
|
|
|
NM_176824.3(BBS7):c.270T>G (p.Ile90Met)
|
|
|
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly)
|
rs1050167281
|
|
NM_176824.3(BBS7):c.301C>G (p.Leu101Val)
|
rs2149087474
|
|
NM_176824.3(BBS7):c.302T>A (p.Leu101His)
|
rs760863058
|
|
NM_176824.3(BBS7):c.326A>G (p.Glu109Gly)
|
rs2149087444
|
|
NM_176824.3(BBS7):c.337G>T (p.Ala113Ser)
|
rs2149087425
|
|
NM_176824.3(BBS7):c.340A>C (p.Met114Leu)
|
rs142305911
|
|
NM_176824.3(BBS7):c.340A>G (p.Met114Val)
|
rs142305911
|
|
NM_176824.3(BBS7):c.342-3C>G
|
rs1244071022
|
|
NM_176824.3(BBS7):c.346A>G (p.Ile116Val)
|
rs2149085075
|
|
NM_176824.3(BBS7):c.36+4A>G
|
|
|
NM_176824.3(BBS7):c.362T>A (p.Leu121His)
|
rs2149085046
|
|
NM_176824.3(BBS7):c.379T>G (p.Tyr127Asp)
|
rs2149085024
|
|
NM_176824.3(BBS7):c.389A>C (p.Asn130Thr)
|
rs2149085001
|
|
NM_176824.3(BBS7):c.391C>T (p.His131Tyr)
|
|
|
NM_176824.3(BBS7):c.398G>A (p.Cys133Tyr)
|
rs769735978
|
|
NM_176824.3(BBS7):c.436A>G (p.Lys146Glu)
|
|
|
NM_176824.3(BBS7):c.443A>G (p.Asn148Ser)
|
rs2149084908
|
|
NM_176824.3(BBS7):c.454T>C (p.Cys152Arg)
|
rs863224814
|
|
NM_176824.3(BBS7):c.505G>C (p.Asp169His)
|
|
|
NM_176824.3(BBS7):c.511G>C (p.Val171Leu)
|
|
|
NM_176824.3(BBS7):c.535G>A (p.Asp179Asn)
|
rs2149080347
|
|
NM_176824.3(BBS7):c.543G>A (p.Met181Ile)
|
|
|
NM_176824.3(BBS7):c.574G>C (p.Val192Leu)
|
|
|
NM_176824.3(BBS7):c.578T>C (p.Leu193Ser)
|
rs1726562977
|
|
NM_176824.3(BBS7):c.584T>C (p.Leu195Pro)
|
|
|
NM_176824.3(BBS7):c.586C>T (p.His196Tyr)
|
|
|
NM_176824.3(BBS7):c.600C>A (p.Gly200=)
|
rs370053625
|
|
NM_176824.3(BBS7):c.600C>T (p.Gly200=)
|
rs370053625
|
|
NM_176824.3(BBS7):c.602-4G>T
|
|
|
NM_176824.3(BBS7):c.632C>G (p.Thr211Arg)
|
rs119466002
|
|
NM_176824.3(BBS7):c.635C>T (p.Ser212Leu)
|
|
|
NM_176824.3(BBS7):c.655A>G (p.Ile219Val)
|
rs2149079121
|
|
NM_176824.3(BBS7):c.682C>T (p.Arg228Cys)
|
rs762367354
|
|
NM_176824.3(BBS7):c.68T>G (p.Leu23Arg)
|
rs1727380420
|
|
NM_176824.3(BBS7):c.711G>T (p.Lys237Asn)
|
|
|
NM_176824.3(BBS7):c.718+3A>T
|
|
|
NM_176824.3(BBS7):c.718G>A (p.Gly240Ser)
|
|
|
NM_176824.3(BBS7):c.737G>A (p.Ser246Asn)
|
rs1444684339
|
|
NM_176824.3(BBS7):c.746T>G (p.Ile249Ser)
|
|
|
NM_176824.3(BBS7):c.748G>C (p.Val250Leu)
|
|
|
NM_176824.3(BBS7):c.748G>T (p.Val250Leu)
|
rs759886973
|
|
NM_176824.3(BBS7):c.785A>G (p.Asp262Gly)
|
rs1726405384
|
|
NM_176824.3(BBS7):c.794T>C (p.Met265Thr)
|
rs1726404404
|
|
NM_176824.3(BBS7):c.7C>A (p.Leu3Met)
|
|
|
NM_176824.3(BBS7):c.821C>G (p.Ala274Gly)
|
|
|
NM_176824.3(BBS7):c.821C>T (p.Ala274Val)
|
rs754878470
|
|
NM_176824.3(BBS7):c.82A>G (p.Arg28Gly)
|
rs2149094179
|
|
NM_176824.3(BBS7):c.842T>A (p.Phe281Tyr)
|
|
|
NM_176824.3(BBS7):c.847C>G (p.Gln283Glu)
|
|
|
NM_176824.3(BBS7):c.850-10A>G
|
|
|
NM_176824.3(BBS7):c.880G>A (p.Gly294Ser)
|
|
|
NM_176824.3(BBS7):c.886T>C (p.Cys296Arg)
|
rs2149072518
|
|
NM_176824.3(BBS7):c.935-18T>G
|
|
|
NM_176824.3(BBS7):c.935G>C (p.Gly312Ala)
|
|
|
NM_176824.3(BBS7):c.945A>G (p.Thr315=)
|
|
|
NM_176824.3(BBS7):c.947G>T (p.Gly316Val)
|
|
|
NM_176824.3(BBS7):c.94A>G (p.Thr32Ala)
|
|
|
NM_176824.3(BBS7):c.976A>G (p.Ser326Gly)
|
rs863224815
|
|
NM_178452.5(DNAAF1):c.1306_1307ins156
|
|
|
NM_178452.6(DNAAF1):c.1015G>C (p.Glu339Gln)
|
rs755873006
|
|
NM_178452.6(DNAAF1):c.1040C>G (p.Thr347Arg)
|
rs771177373
|
|
NM_178452.6(DNAAF1):c.1076C>T (p.Ala359Val)
|
|
|
NM_178452.6(DNAAF1):c.1124T>C (p.Met375Thr)
|
|
|
NM_178452.6(DNAAF1):c.124+6G>A
|
rs1479123454
|
|
NM_178452.6(DNAAF1):c.1240G>C (p.Gly414Arg)
|
rs766064232
|
|
NM_178452.6(DNAAF1):c.1252G>T (p.Ala418Ser)
|
rs2151265896
|
|
NM_178452.6(DNAAF1):c.1258_1335del (p.Thr420_Glu445del)
|
rs1555525141
|
|
NM_178452.6(DNAAF1):c.1262T>G (p.Leu421Arg)
|
|
|
NM_178452.6(DNAAF1):c.1264C>G (p.Leu422Val)
|
rs1029522235
|
|
NM_178452.6(DNAAF1):c.1271C>T (p.Ser424Leu)
|
|
|
NM_178452.6(DNAAF1):c.1299_1376dup (p.Gly436_Asp461dup)
|
rs2088246526
|
|
NM_178452.6(DNAAF1):c.1302A>T (p.Gly434=)
|
rs1033113310
|
|
NM_178452.6(DNAAF1):c.1311G>C (p.Glu437Asp)
|
|
|
NM_178452.6(DNAAF1):c.1325T>A (p.Leu442His)
|
rs2151266342
|
|
NM_178452.6(DNAAF1):c.1328C>A (p.Pro443Gln)
|
rs1242687898
|
|
NM_178452.6(DNAAF1):c.1340C>T (p.Pro447Leu)
|
|
|
NM_178452.6(DNAAF1):c.1347_1502dup (p.Pro452_Pro503dup)
|
rs2088249327
|
|
NM_178452.6(DNAAF1):c.1379G>T (p.Gly460Val)
|
rs2088254831
|
|
NM_178452.6(DNAAF1):c.13C>G (p.Pro5Ala)
|
|
|
NM_178452.6(DNAAF1):c.1414_1491del (p.Thr472_Glu497del)
|
rs2088255429
|
|
NM_178452.6(DNAAF1):c.1475G>A (p.Gly492Glu)
|
rs2151267135
|
|
NM_178452.6(DNAAF1):c.1477A>T (p.Thr493Ser)
|
rs2088261172
|
|
NM_178452.6(DNAAF1):c.1493C>A (p.Ala498Asp)
|
rs1192806420
|
|
NM_178452.6(DNAAF1):c.1508C>G (p.Pro503Arg)
|
rs557532640
|
|
NM_178452.6(DNAAF1):c.1508C>T (p.Pro503Leu)
|
|
|
NM_178452.6(DNAAF1):c.1537C>T (p.Pro513Ser)
|
rs561606647
|
|
NM_178452.6(DNAAF1):c.1549G>A (p.Ala517Thr)
|
|
|
NM_178452.6(DNAAF1):c.1555G>A (p.Glu519Lys)
|
|
|
NM_178452.6(DNAAF1):c.155G>A (p.Gly52Asp)
|
|
|
NM_178452.6(DNAAF1):c.1568T>A (p.Val523Asp)
|
|
|
NM_178452.6(DNAAF1):c.1586C>T (p.Thr529Met)
|
|
|
NM_178452.6(DNAAF1):c.1589G>A (p.Arg530Lys)
|
rs1415853219
|
|
NM_178452.6(DNAAF1):c.1615C>A (p.Leu539Met)
|
rs1239119335
|
|
NM_178452.6(DNAAF1):c.1618G>C (p.Glu540Gln)
|
|
|
NM_178452.6(DNAAF1):c.1629G>C (p.Glu543Asp)
|
|
|
NM_178452.6(DNAAF1):c.1631C>T (p.Thr544Ile)
|
|
|
NM_178452.6(DNAAF1):c.1642G>A (p.Asp548Asn)
|
rs2088409947
|
|
NM_178452.6(DNAAF1):c.1645-5T>C
|
|
|
NM_178452.6(DNAAF1):c.1678G>C (p.Gly560Arg)
|
|
|
NM_178452.6(DNAAF1):c.1684T>A (p.Ser562Thr)
|
|
|
NM_178452.6(DNAAF1):c.1691A>C (p.Glu564Ala)
|
rs2151278226
|
|
NM_178452.6(DNAAF1):c.1697A>G (p.Gln566Arg)
|
|
|
NM_178452.6(DNAAF1):c.1699-3T>C
|
|
|
NM_178452.6(DNAAF1):c.1712C>A (p.Pro571Gln)
|
rs199727292
|
|
NM_178452.6(DNAAF1):c.1712C>T (p.Pro571Leu)
|
rs199727292
|
|
NM_178452.6(DNAAF1):c.172T>G (p.Tyr58Asp)
|
rs2151206382
|
|
NM_178452.6(DNAAF1):c.1748G>A (p.Ser583Asn)
|
rs1488717484
|
|
NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met)
|
|
|
NM_178452.6(DNAAF1):c.1783C>G (p.Leu595Val)
|
|
|
NM_178452.6(DNAAF1):c.179G>C (p.Ser60Thr)
|
rs1597397944
|
|
NM_178452.6(DNAAF1):c.1807C>G (p.Leu603Val)
|
rs774702739
|
|
NM_178452.6(DNAAF1):c.1832A>C (p.Lys611Thr)
|
|
|
NM_178452.6(DNAAF1):c.1899G>C (p.Leu633Phe)
|
|
|
NM_178452.6(DNAAF1):c.1927C>T (p.Pro643Ser)
|
|
|
NM_178452.6(DNAAF1):c.192G>T (p.Gln64His)
|
rs111414382
|
|
NM_178452.6(DNAAF1):c.1936C>G (p.Leu646Val)
|
|
|
NM_178452.6(DNAAF1):c.1954G>C (p.Asp652His)
|
rs113845425
|
|
NM_178452.6(DNAAF1):c.196G>T (p.Gly66Cys)
|
|
|
NM_178452.6(DNAAF1):c.2012C>T (p.Pro671Leu)
|
rs1597498231
|
|
NM_178452.6(DNAAF1):c.2024G>A (p.Ser675Asn)
|
|
|
NM_178452.6(DNAAF1):c.2061_2063dup (p.Pro688dup)
|
rs776738547
|
|
NM_178452.6(DNAAF1):c.2065+1del
|
rs1567571110
|
|
NM_178452.6(DNAAF1):c.2114C>G (p.Ala705Gly)
|
rs1567574383
|
|
NM_178452.6(DNAAF1):c.2138C>A (p.Thr713Lys)
|
|
|
NM_178452.6(DNAAF1):c.2141G>C (p.Trp714Ser)
|
rs2088819587
|
|
NM_178452.6(DNAAF1):c.214G>A (p.Gly72Ser)
|
rs1597398065
|
|
NM_178452.6(DNAAF1):c.2165C>T (p.Pro722Leu)
|
|
|
NM_178452.6(DNAAF1):c.218A>T (p.His73Leu)
|
|
|
NM_178452.6(DNAAF1):c.223G>A (p.Ala75Thr)
|
rs200440212
|
|
NM_178452.6(DNAAF1):c.230C>G (p.Pro77Arg)
|
|
|
NM_178452.6(DNAAF1):c.260+3A>G
|
|
|
NM_178452.6(DNAAF1):c.327T>G (p.Asn109Lys)
|
rs149063283
|
|
NM_178452.6(DNAAF1):c.32G>C (p.Gly11Ala)
|
rs1441002883
|
|
NM_178452.6(DNAAF1):c.332C>A (p.Thr111Lys)
|
rs375812500
|
|
NM_178452.6(DNAAF1):c.361C>A (p.Arg121Ser)
|
rs368031148
|
|
NM_178452.6(DNAAF1):c.362G>A (p.Arg121His)
|
rs34897947
|
|
NM_178452.6(DNAAF1):c.364A>G (p.Ile122Val)
|
|
|
NM_178452.6(DNAAF1):c.394C>T (p.Arg132Cys)
|
rs538582505
|
|
NM_178452.6(DNAAF1):c.395G>A (p.Arg132His)
|
|
|
NM_178452.6(DNAAF1):c.416A>G (p.Asn139Ser)
|
|
|
NM_178452.6(DNAAF1):c.430A>G (p.Ile144Val)
|
|
|
NM_178452.6(DNAAF1):c.433G>A (p.Glu145Lys)
|
|
|
NM_178452.6(DNAAF1):c.445G>C (p.Ala149Pro)
|
|
|
NM_178452.6(DNAAF1):c.468CTT[1] (p.Phe157del)
|
rs1555521110
|
|
NM_178452.6(DNAAF1):c.482A>G (p.Asn161Ser)
|
rs752043457
|
|
NM_178452.6(DNAAF1):c.491G>A (p.Arg164His)
|
|
|
NM_178452.6(DNAAF1):c.533T>C (p.Leu178Pro)
|
rs2087331937
|
|
NM_178452.6(DNAAF1):c.538C>G (p.Leu180Val)
|
|
|
NM_178452.6(DNAAF1):c.605T>C (p.Met202Thr)
|
rs2087389150
|
|
NM_178452.6(DNAAF1):c.620T>G (p.Leu207Arg)
|
rs1060502830
|
|
NM_178452.6(DNAAF1):c.655T>C (p.Cys219Arg)
|
|
|
NM_178452.6(DNAAF1):c.679C>T (p.Leu227Phe)
|
|
|
NM_178452.6(DNAAF1):c.712C>A (p.Leu238Met)
|
|
|
NM_178452.6(DNAAF1):c.742_743delinsAA (p.Arg248Asn)
|
rs2151234537
|
|
NM_178452.6(DNAAF1):c.749T>C (p.Leu250Pro)
|
rs1555522543
|
|
NM_178452.6(DNAAF1):c.754T>A (p.Leu252Met)
|
|
|
NM_178452.6(DNAAF1):c.765C>G (p.Asn255Lys)
|
rs373103805
|
|
NM_178452.6(DNAAF1):c.794G>A (p.Arg265Lys)
|
rs867096947
|
|
NM_178452.6(DNAAF1):c.863+6A>C
|
rs1303480013
|
|
NM_178452.6(DNAAF1):c.872C>T (p.Ala291Val)
|
rs745857720
|
|
NM_178452.6(DNAAF1):c.880T>C (p.Trp294Arg)
|
|
|
NM_178452.6(DNAAF1):c.930G>C (p.Glu310Asp)
|
rs752852857
|
|
NM_178452.6(DNAAF1):c.937G>A (p.Glu313Lys)
|
rs1567554737
|
|
NM_178452.6(DNAAF1):c.93C>A (p.His31Gln)
|
rs780631154
|
|
NM_181426.2(CCDC39):c.1019A>G (p.His340Arg)
|
rs2108424748
|
|
NM_181426.2(CCDC39):c.1025A>G (p.Glu342Gly)
|
rs1553804760
|
|
NM_181426.2(CCDC39):c.1028C>T (p.Thr343Ile)
|
|
|
NM_181426.2(CCDC39):c.1133A>G (p.Glu378Gly)
|
rs1718205726
|
|
NM_181426.2(CCDC39):c.1167+1248A>G
|
rs1718166306
|
|
NM_181426.2(CCDC39):c.1167+3A>G
|
|
|
NM_181426.2(CCDC39):c.1168-14A>G
|
|
|
NM_181426.2(CCDC39):c.1198G>A (p.Gly400Ser)
|
rs147383873
|
|
NM_181426.2(CCDC39):c.1334T>G (p.Leu445Trp)
|
|
|
NM_181426.2(CCDC39):c.1344A>T (p.Gln448His)
|
rs878974039
|
|
NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg)
|
rs6769457
|
|
NM_181426.2(CCDC39):c.1388G>A (p.Arg463Gln)
|
|
|
NM_181426.2(CCDC39):c.1415_1417del (p.Ile472del)
|
|
|
NM_181426.2(CCDC39):c.1460T>C (p.Leu487Pro)
|
rs1718084209
|
|
NM_181426.2(CCDC39):c.1486T>A (p.Ser496Thr)
|
|
|
NM_181426.2(CCDC39):c.1525C>T (p.His509Tyr)
|
rs760511976
|
|
NM_181426.2(CCDC39):c.1528-6T>A
|
rs1718023157
|
|
NM_181426.2(CCDC39):c.1606C>A (p.Leu536Ile)
|
|
|
NM_181426.2(CCDC39):c.1621G>A (p.Asp541Asn)
|
rs764908281
|
|
NM_181426.2(CCDC39):c.1633A>G (p.Lys545Glu)
|
rs2108419987
|
|
NM_181426.2(CCDC39):c.1687C>T (p.Leu563Phe)
|
|
|
NM_181426.2(CCDC39):c.1696C>T (p.Leu566Phe)
|
|
|
NM_181426.2(CCDC39):c.1697T>C (p.Leu566Pro)
|
rs1060502868
|
|
NM_181426.2(CCDC39):c.1708C>G (p.Arg570Gly)
|
|
|
NM_181426.2(CCDC39):c.1709G>T (p.Arg570Leu)
|
|
|
NM_181426.2(CCDC39):c.1747C>A (p.Leu583Ile)
|
|
|
NM_181426.2(CCDC39):c.1808T>C (p.Ile603Thr)
|
|
|
NM_181426.2(CCDC39):c.1825A>G (p.Met609Val)
|
|
|
NM_181426.2(CCDC39):c.1874G>A (p.Ser625Asn)
|
|
|
NM_181426.2(CCDC39):c.1886G>A (p.Arg629His)
|
|
|
NM_181426.2(CCDC39):c.1922G>A (p.Arg641Lys)
|
|
|
NM_181426.2(CCDC39):c.1999-3T>C
|
|
|
NM_181426.2(CCDC39):c.2081C>T (p.Ala694Val)
|
rs1717386263
|
|
NM_181426.2(CCDC39):c.2131C>A (p.Gln711Lys)
|
|
|
NM_181426.2(CCDC39):c.2158+6T>C
|
rs1717382696
|
|
NM_181426.2(CCDC39):c.215T>C (p.Leu72Pro)
|
|
|
NM_181426.2(CCDC39):c.2170G>A (p.Glu724Lys)
|
|
|
NM_181426.2(CCDC39):c.2178A>C (p.Lys726Asn)
|
rs2108406240
|
|
NM_181426.2(CCDC39):c.2266-3C>G
|
|
|
NM_181426.2(CCDC39):c.2284G>A (p.Asp762Asn)
|
rs1060502867
|
|
NM_181426.2(CCDC39):c.22G>C (p.Glu8Gln)
|
rs1553807998
|
|
NM_181426.2(CCDC39):c.2371G>A (p.Glu791Lys)
|
rs1576930055
|
|
NM_181426.2(CCDC39):c.2381C>G (p.Pro794Arg)
|
rs7613155
|
|
NM_181426.2(CCDC39):c.2406+2dup
|
|
|
NM_181426.2(CCDC39):c.2406+5C>T
|
|
|
NM_181426.2(CCDC39):c.2528T>C (p.Val843Ala)
|
|
|
NM_181426.2(CCDC39):c.2553G>T (p.Glu851Asp)
|
rs371713454
|
|
NM_181426.2(CCDC39):c.2601_2607del (p.Pro868fs)
|
|
|
NM_181426.2(CCDC39):c.2622C>T (p.Gly874=)
|
|
|
NM_181426.2(CCDC39):c.2670-10T>G
|
|
|
NM_181426.2(CCDC39):c.2670-14G>A
|
|
|
NM_181426.2(CCDC39):c.269C>T (p.Ala90Val)
|
rs2108430167
|
|
NM_181426.2(CCDC39):c.2800_2802dup (p.Val934_Lys935insVal)
|
rs556950924
|
|
NM_181426.2(CCDC39):c.290T>C (p.Val97Ala)
|
rs1711752710
|
|
NM_181426.2(CCDC39):c.295G>C (p.Asp99His)
|
|
|
NM_181426.2(CCDC39):c.297T>G (p.Asp99Glu)
|
rs763798585
|
|
NM_181426.2(CCDC39):c.29A>T (p.His10Leu)
|
|
|
NM_181426.2(CCDC39):c.307C>T (p.Arg103Trp)
|
rs61733582
|
|
NM_181426.2(CCDC39):c.308G>C (p.Arg103Pro)
|
rs766541691
|
|
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly)
|
rs1560092712
|
|
NM_181426.2(CCDC39):c.364A>G (p.Ile122Val)
|
rs371541452
|
|
NM_181426.2(CCDC39):c.367T>G (p.Phe123Val)
|
rs2108429552
|
|
NM_181426.2(CCDC39):c.388G>T (p.Asp130Tyr)
|
|
|
NM_181426.2(CCDC39):c.389A>G (p.Asp130Gly)
|
|
|
NM_181426.2(CCDC39):c.395T>C (p.Leu132Ser)
|
|
|
NM_181426.2(CCDC39):c.455A>C (p.His152Pro)
|
|
|
NM_181426.2(CCDC39):c.514A>G (p.Arg172Gly)
|
rs757331133
|
|
NM_181426.2(CCDC39):c.52C>T (p.Pro18Ser)
|
|
|
NM_181426.2(CCDC39):c.539G>T (p.Arg180Ile)
|
|
|
NM_181426.2(CCDC39):c.570G>T (p.Lys190Asn)
|
|
|
NM_181426.2(CCDC39):c.618G>C (p.Leu206Phe)
|
rs1048916587
|
|
NM_181426.2(CCDC39):c.63C>A (p.Asn21Lys)
|
rs775366536
|
|
NM_181426.2(CCDC39):c.640C>T (p.Arg214Cys)
|
rs749794148
|
|
NM_181426.2(CCDC39):c.64GAG[1] (p.Glu23del)
|
rs771715698
|
|
NM_181426.2(CCDC39):c.664_666del (p.Glu222del)
|
rs1711686691
|
|
NM_181426.2(CCDC39):c.721A>G (p.Ile241Val)
|
|
|
NM_181426.2(CCDC39):c.739-7A>G
|
rs2108426504
|
|
NM_181426.2(CCDC39):c.7A>C (p.Ser3Arg)
|
rs757699907
|
|
NM_181426.2(CCDC39):c.7A>G (p.Ser3Gly)
|
|
|
NM_181426.2(CCDC39):c.811A>G (p.Ser271Gly)
|
|
|
NM_181426.2(CCDC39):c.830C>T (p.Thr277Ile)
|
|
|
NM_181426.2(CCDC39):c.904A>G (p.Thr302Ala)
|
rs1711543464
|
|
NM_181426.2(CCDC39):c.934G>T (p.Asp312Tyr)
|
rs1461822875
|
|
NM_181426.2(CCDC39):c.985A>G (p.Arg329Gly)
|
|
|
NM_181426.2(CCDC39):c.991A>T (p.Asn331Tyr)
|
rs1553804772
|
|
NM_198428.3(BBS9):c.1014_1015delinsTT (p.Leu338_His339delinsPheTyr)
|
rs2128347670
|
|
NM_198428.3(BBS9):c.1016+2dup
|
|
|
NM_198428.3(BBS9):c.101G>A (p.Gly34Glu)
|
|
|
NM_198428.3(BBS9):c.1046G>A (p.Ser349Asn)
|
|
|
NM_198428.3(BBS9):c.1103C>T (p.Ala368Val)
|
rs1815389952
|
|
NM_198428.3(BBS9):c.114T>G (p.Asp38Glu)
|
|
|
NM_198428.3(BBS9):c.11T>A (p.Phe4Tyr)
|
rs746345067
|
|
NM_198428.3(BBS9):c.11T>G (p.Phe4Cys)
|
rs746345067
|
|
NM_198428.3(BBS9):c.1228G>T (p.Asp410Tyr)
|
rs1000831388
|
|
NM_198428.3(BBS9):c.1245C>A (p.Val415=)
|
rs61764066
|
|
NM_198428.3(BBS9):c.1249G>C (p.Val417Leu)
|
rs751604593
|
|
NM_198428.3(BBS9):c.1249G>T (p.Val417Phe)
|
rs751604593
|
|
NM_198428.3(BBS9):c.1275+6T>G
|
rs1816408545
|
|
NM_198428.3(BBS9):c.1288G>A (p.Val430Ile)
|
|
|
NM_198428.3(BBS9):c.1330G>C (p.Val444Leu)
|
|
|
NM_198428.3(BBS9):c.1367A>G (p.Lys456Arg)
|
rs2128661224
|
|
NM_198428.3(BBS9):c.136A>T (p.Met46Leu)
|
|
|
NM_198428.3(BBS9):c.1370T>C (p.Leu457Ser)
|
rs762511626
|
|
NM_198428.3(BBS9):c.1426T>A (p.Phe476Ile)
|
|
|
NM_198428.3(BBS9):c.1453G>C (p.Val485Leu)
|
|
|
NM_198428.3(BBS9):c.1466T>C (p.Val489Ala)
|
|
|
NM_198428.3(BBS9):c.1531C>A (p.Pro511Thr)
|
|
|
NM_198428.3(BBS9):c.1532C>A (p.Pro511Gln)
|
rs965817527
|
|
NM_198428.3(BBS9):c.1532C>G (p.Pro511Arg)
|
|
|
NM_198428.3(BBS9):c.1544A>T (p.Asn515Ile)
|
|
|
NM_198428.3(BBS9):c.1547C>T (p.Pro516Leu)
|
|
|
NM_198428.3(BBS9):c.1552+5G>T
|
|
|
NM_198428.3(BBS9):c.1562G>C (p.Arg521Pro)
|
rs34218557
|
|
NM_198428.3(BBS9):c.1582A>G (p.Arg528Gly)
|
|
|
NM_198428.3(BBS9):c.1586T>A (p.Leu529His)
|
|
|
NM_198428.3(BBS9):c.1596G>C (p.Lys532Asn)
|
|
|
NM_198428.3(BBS9):c.160C>A (p.Pro54Thr)
|
|
|
NM_198428.3(BBS9):c.1610C>T (p.Pro537Leu)
|
|
|
NM_198428.3(BBS9):c.1637A>G (p.His546Arg)
|
|
|
NM_198428.3(BBS9):c.1646C>G (p.Thr549Ser)
|
|
|
NM_198428.3(BBS9):c.1670T>G (p.Val557Gly)
|
rs1819942366
|
|
NM_198428.3(BBS9):c.1691C>T (p.Pro564Leu)
|
|
|
NM_198428.3(BBS9):c.1693+4del
|
rs2128687729
|
|
NM_198428.3(BBS9):c.176C>A (p.Thr59Lys)
|
rs749727731
|
|
NM_198428.3(BBS9):c.1775C>G (p.Ala592Gly)
|
|
|
NM_198428.3(BBS9):c.1786T>G (p.Ser596Ala)
|
|
|
NM_198428.3(BBS9):c.1789+5G>T
|
rs2128714437
|
|
NM_198428.3(BBS9):c.1790-3C>T
|
|
|
NM_198428.3(BBS9):c.1793G>A (p.Arg598Gln)
|
|
|
NM_198428.3(BBS9):c.1799G>A (p.Arg600His)
|
rs749018243
|
|
NM_198428.3(BBS9):c.1799G>T (p.Arg600Leu)
|
|
|
NM_198428.3(BBS9):c.1808G>C (p.Ser603Thr)
|
rs1584588488
|
|
NM_198428.3(BBS9):c.1841A>G (p.Asn614Ser)
|
rs1825501129
|
|
NM_198428.3(BBS9):c.1843G>A (p.Glu615Lys)
|
rs993175361
|
|
NM_198428.3(BBS9):c.1844A>G (p.Glu615Gly)
|
rs370925964
|
|
NM_198428.3(BBS9):c.1928A>G (p.Gln643Arg)
|
rs1048014676
|
|
NM_198428.3(BBS9):c.1937T>C (p.Phe646Ser)
|
|
|
NM_198428.3(BBS9):c.1951C>G (p.His651Asp)
|
|
|
NM_198428.3(BBS9):c.1962+3A>T
|
rs1017765966
|
|
NM_198428.3(BBS9):c.1963-6T>C
|
rs769047017
|
|
NM_198428.3(BBS9):c.1966C>T (p.Arg656Trp)
|
|
|
NM_198428.3(BBS9):c.196G>A (p.Glu66Lys)
|
|
|
NM_198428.3(BBS9):c.1992A>C (p.Glu664Asp)
|
rs2128756476
|
|
NM_198428.3(BBS9):c.19C>A (p.Arg7Ser)
|
|
|
NM_198428.3(BBS9):c.19C>T (p.Arg7Cys)
|
rs184994140
|
|
NM_198428.3(BBS9):c.2009C>T (p.Ala670Val)
|
|
|
NM_198428.3(BBS9):c.2021G>A (p.Arg674Gln)
|
|
|
NM_198428.3(BBS9):c.2027T>C (p.Ile676Thr)
|
|
|
NM_198428.3(BBS9):c.2035C>T (p.Arg679Trp)
|
rs749841788
|
|
NM_198428.3(BBS9):c.206T>C (p.Leu69Pro)
|
rs771129780
|
|
NM_198428.3(BBS9):c.2070_2071delinsTA (p.Pro691Thr)
|
|
|
NM_198428.3(BBS9):c.2080C>T (p.His694Tyr)
|
rs2128756856
|
|
NM_198428.3(BBS9):c.2098G>A (p.Asp700Asn)
|
rs1274816953
|
|
NM_198428.3(BBS9):c.20G>A (p.Arg7His)
|
rs746340993
|
|
NM_198428.3(BBS9):c.20G>C (p.Arg7Pro)
|
rs746340993
|
|
NM_198428.3(BBS9):c.20G>T (p.Arg7Leu)
|
rs746340993
|
|
NM_198428.3(BBS9):c.2101G>A (p.Gly701Arg)
|
|
|
NM_198428.3(BBS9):c.2108A>G (p.Tyr703Cys)
|
|
|
NM_198428.3(BBS9):c.2120T>C (p.Ile707Thr)
|
|
|
NM_198428.3(BBS9):c.2134G>A (p.Ala712Thr)
|
|
|
NM_198428.3(BBS9):c.214G>A (p.Val72Met)
|
rs765240871
|
|
NM_198428.3(BBS9):c.2186G>A (p.Ser729Asn)
|
rs1393453305
|
|
NM_198428.3(BBS9):c.2245G>C (p.Val749Leu)
|
rs1563271285
|
|
NM_198428.3(BBS9):c.2261C>T (p.Ala754Val)
|
|
|
NM_198428.3(BBS9):c.2298+5G>A
|
rs1846053369
|
|
NM_198428.3(BBS9):c.2312C>T (p.Thr771Met)
|
|
|
NM_198428.3(BBS9):c.2357_2359del (p.Lys786del)
|
|
|
NM_198428.3(BBS9):c.2358G>C (p.Lys786Asn)
|
|
|
NM_198428.3(BBS9):c.2370G>T (p.Glu790Asp)
|
|
|
NM_198428.3(BBS9):c.2385_2396del (p.Ser797_Asn800del)
|
|
|
NM_198428.3(BBS9):c.2462A>C (p.Lys821Thr)
|
rs1851006563
|
|
NM_198428.3(BBS9):c.2489A>G (p.Asp830Gly)
|
|
|
NM_198428.3(BBS9):c.2494G>C (p.Ala832Pro)
|
|
|
NM_198428.3(BBS9):c.2511G>T (p.Met837Ile)
|
|
|
NM_198428.3(BBS9):c.2518C>T (p.Pro840Ser)
|
|
|
NM_198428.3(BBS9):c.251G>A (p.Gly84Glu)
|
rs766917697
|
|
NM_198428.3(BBS9):c.2522-3T>C
|
|
|
NM_198428.3(BBS9):c.2522-5A>G
|
rs2129207620
|
|
NM_198428.3(BBS9):c.2534C>G (p.Thr845Arg)
|
rs2129207675
|
|
NM_198428.3(BBS9):c.253A>C (p.Lys85Gln)
|
|
|
NM_198428.3(BBS9):c.2581A>T (p.Thr861Ser)
|
rs1864358642
|
|
NM_198428.3(BBS9):c.2588T>A (p.Leu863Gln)
|
|
|
NM_198428.3(BBS9):c.2591T>G (p.Phe864Cys)
|
rs1490049568
|
|
NM_198428.3(BBS9):c.2594C>T (p.Thr865Ile)
|
|
|
NM_198428.3(BBS9):c.259G>A (p.Val87Ile)
|
rs1255605179
|
|
NM_198428.3(BBS9):c.2604A>C (p.Arg868Ser)
|
|
|
NM_198428.3(BBS9):c.2623C>A (p.Pro875Thr)
|
rs755911247
|
|
NM_198428.3(BBS9):c.263+4A>G
|
rs370916293
|
|
NM_198428.3(BBS9):c.2631del (p.Glu878fs)
|
rs1401159616
|
|
NM_198428.3(BBS9):c.2633-2A>G
|
rs1864417554
|
|
NM_198428.3(BBS9):c.2633-3C>G
|
rs1422030068
|
|
NM_198428.3(BBS9):c.2642C>G (p.Pro881Arg)
|
|
|
NM_198428.3(BBS9):c.2642C>T (p.Pro881Leu)
|
|
|
NM_198428.3(BBS9):c.2648A>G (p.Gln883Arg)
|
rs967703053
|
|
NM_198428.3(BBS9):c.27G>C (p.Trp9Cys)
|
|
|
NM_198428.3(BBS9):c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG
|
rs775674614
|
|
NM_198428.3(BBS9):c.341A>G (p.Asn114Ser)
|
rs1797497751
|
|
NM_198428.3(BBS9):c.349C>T (p.His117Tyr)
|
|
|
NM_198428.3(BBS9):c.377T>C (p.Met126Thr)
|
rs2128162902
|
|
NM_198428.3(BBS9):c.385C>T (p.His129Tyr)
|
rs886062284
|
|
NM_198428.3(BBS9):c.396G>C (p.Gln132His)
|
rs10255104
|
|
NM_198428.3(BBS9):c.412A>G (p.Met138Val)
|
|
|
NM_198428.3(BBS9):c.450T>A (p.Asp150Glu)
|
rs2128312333
|
|
NM_198428.3(BBS9):c.455T>C (p.Ile152Thr)
|
|
|
NM_198428.3(BBS9):c.485T>C (p.Met162Thr)
|
rs1797227483
|
|
NM_198428.3(BBS9):c.49_51del (p.Lys17del)
|
rs1562672388
|
|
NM_198428.3(BBS9):c.509C>A (p.Ala170Asp)
|
|
|
NM_198428.3(BBS9):c.527C>G (p.Pro176Arg)
|
|
|
NM_198428.3(BBS9):c.529G>T (p.Gly177Cys)
|
rs750278720
|
|
NM_198428.3(BBS9):c.544G>T (p.Gly182Cys)
|
rs946999139
|
|
NM_198428.3(BBS9):c.548C>T (p.Pro183Leu)
|
|
|
NM_198428.3(BBS9):c.563C>T (p.Ser188Phe)
|
rs2128312652
|
|
NM_198428.3(BBS9):c.580C>T (p.Leu194Phe)
|
rs1797251379
|
|
NM_198428.3(BBS9):c.60T>A (p.Phe20Leu)
|
|
|
NM_198428.3(BBS9):c.614A>T (p.Tyr205Phe)
|
|
|
NM_198428.3(BBS9):c.618-3C>G
|
rs1460288162
|
|
NM_198428.3(BBS9):c.61G>C (p.Asp21His)
|
|
|
NM_198428.3(BBS9):c.625G>T (p.Val209Leu)
|
|
|
NM_198428.3(BBS9):c.628C>A (p.Leu210Ile)
|
|
|
NM_198428.3(BBS9):c.644A>T (p.Asp215Val)
|
|
|
NM_198428.3(BBS9):c.657G>T (p.Arg219Ser)
|
rs1307359911
|
|
NM_198428.3(BBS9):c.660_674del (p.Glu221_Gln225del)
|
rs1562901016
|
|
NM_198428.3(BBS9):c.677A>C (p.Lys226Thr)
|
rs1562901214
|
|
NM_198428.3(BBS9):c.688G>A (p.Gly230Arg)
|
rs1798450904
|
|
NM_198428.3(BBS9):c.692A>T (p.Lys231Ile)
|
|
|
NM_198428.3(BBS9):c.702T>A (p.Val234=)
|
rs1373479665
|
|
NM_198428.3(BBS9):c.71G>A (p.Cys24Tyr)
|
rs1792335317
|
|
NM_198428.3(BBS9):c.742A>C (p.Ile248Leu)
|
rs577724923
|
|
NM_198428.3(BBS9):c.745T>C (p.Cys249Arg)
|
|
|
NM_198428.3(BBS9):c.746G>A (p.Cys249Tyr)
|
rs772441123
|
|
NM_198428.3(BBS9):c.755C>T (p.Ser252Phe)
|
|
|
NM_198428.3(BBS9):c.767C>G (p.Ser256Trp)
|
rs149790873
|
|
NM_198428.3(BBS9):c.778G>A (p.Val260Ile)
|
rs149093988
|
|
NM_198428.3(BBS9):c.778G>T (p.Val260Phe)
|
rs149093988
|
|
NM_198428.3(BBS9):c.802T>A (p.Phe268Ile)
|
rs939805930
|
|
NM_198428.3(BBS9):c.831T>G (p.Ile277Met)
|
rs1800123284
|
|
NM_198428.3(BBS9):c.83C>T (p.Ala28Val)
|
rs1792337794
|
|
NM_198428.3(BBS9):c.850G>T (p.Asp284Tyr)
|
rs1800127011
|
|
NM_198428.3(BBS9):c.858C>G (p.Ser286Arg)
|
|
|
NM_198428.3(BBS9):c.863G>C (p.Ser288Thr)
|
rs2128345247
|
|
NM_198428.3(BBS9):c.886+4T>A
|
rs542391272
|
|
NM_198428.3(BBS9):c.938A>C (p.His313Pro)
|
rs533714503
|
|
NM_198428.3(BBS9):c.940A>G (p.Ile314Val)
|
|
|
NM_198428.3(BBS9):c.948A>G (p.Gln316=)
|
|
|
NM_198428.3(BBS9):c.962A>G (p.Lys321Arg)
|
|
|
NM_198525.3(KIF7):c.1014C>G (p.Asn338Lys)
|
|
|
NM_198525.3(KIF7):c.1027G>A (p.Ala343Thr)
|
|
|
NM_198525.3(KIF7):c.1033C>T (p.Arg345Cys)
|
|
|
NM_198525.3(KIF7):c.1034G>A (p.Arg345His)
|
|
|
NM_198525.3(KIF7):c.1037C>G (p.Ala346Gly)
|
|
|
NM_198525.3(KIF7):c.105G>T (p.Gln35His)
|
|
|
NM_198525.3(KIF7):c.1064T>C (p.Val355Ala)
|
rs1964064450
|
|
NM_198525.3(KIF7):c.1064T>G (p.Val355Gly)
|
rs1964064450
|
|
NM_198525.3(KIF7):c.1066A>G (p.Asn356Asp)
|
|
|
NM_198525.3(KIF7):c.1073G>A (p.Arg358Gln)
|
rs1964064208
|
|
NM_198525.3(KIF7):c.1096G>A (p.Glu366Lys)
|
|
|
NM_198525.3(KIF7):c.1101_1102delinsCG (p.Glu367_Thr368delinsAspAla)
|
rs2142029100
|
|
NM_198525.3(KIF7):c.1105G>T (p.Ala369Ser)
|
rs2142029069
|
|
NM_198525.3(KIF7):c.1109G>C (p.Ser370Thr)
|
rs1439252969
|
|
NM_198525.3(KIF7):c.1118G>C (p.Arg373Pro)
|
|
|
NM_198525.3(KIF7):c.1123C>G (p.Pro375Ala)
|
|
|
NM_198525.3(KIF7):c.1134C>G (p.His378Gln)
|
|
|
NM_198525.3(KIF7):c.1147C>G (p.Arg383Gly)
|
rs2142028875
|
|
NM_198525.3(KIF7):c.1148G>T (p.Arg383Leu)
|
|
|
NM_198525.3(KIF7):c.1150A>G (p.Ile384Val)
|
rs1596078329
|
|
NM_198525.3(KIF7):c.1166G>C (p.Arg389Pro)
|
|
|
NM_198525.3(KIF7):c.1168C>G (p.Arg390Gly)
|
|
|
NM_198525.3(KIF7):c.1184C>G (p.Ala395Gly)
|
rs1964059838
|
|
NM_198525.3(KIF7):c.1186A>C (p.Thr396Pro)
|
|
|
NM_198525.3(KIF7):c.1190C>T (p.Ala397Val)
|
|
|
NM_198525.3(KIF7):c.1195G>A (p.Ala399Thr)
|
rs2142028675
|
|
NM_198525.3(KIF7):c.120G>A (p.Val40=)
|
|
|
NM_198525.3(KIF7):c.1219G>C (p.Ala407Pro)
|
|
|
NM_198525.3(KIF7):c.1240G>T (p.Ala414Ser)
|
|
|
NM_198525.3(KIF7):c.1251C>A (p.Asp417Glu)
|
|
|
NM_198525.3(KIF7):c.1288C>T (p.Pro430Ser)
|
rs1368352498
|
|
NM_198525.3(KIF7):c.1296_1297delinsAA (p.Pro433Thr)
|
rs1567067173
|
|
NM_198525.3(KIF7):c.1303GCC[4] (p.Ala437_Arg438insAla)
|
|
|
NM_198525.3(KIF7):c.1304C>T (p.Ala435Val)
|
rs976073468
|
|
NM_198525.3(KIF7):c.1312C>T (p.Arg438Cys)
|
|
|
NM_198525.3(KIF7):c.1313G>A (p.Arg438His)
|
|
|
NM_198525.3(KIF7):c.131T>G (p.Leu44Arg)
|
rs1964145444
|
|
NM_198525.3(KIF7):c.1322G>T (p.Arg441Leu)
|
|
|
NM_198525.3(KIF7):c.1337C>A (p.Ala446Asp)
|
|
|
NM_198525.3(KIF7):c.1339G>A (p.Val447Ile)
|
rs1964054912
|
|
NM_198525.3(KIF7):c.1339G>T (p.Val447Phe)
|
|
|
NM_198525.3(KIF7):c.133G>C (p.Gly45Arg)
|
|
|
NM_198525.3(KIF7):c.1345G>A (p.Gly449Ser)
|
|
|
NM_198525.3(KIF7):c.1346_1411del (p.Gly449_Glu470del)
|
|
|
NM_198525.3(KIF7):c.1358C>T (p.Ala453Val)
|
rs886051532
|
|
NM_198525.3(KIF7):c.1363A>T (p.Ser455Cys)
|
|
|
NM_198525.3(KIF7):c.1375G>A (p.Gly459Arg)
|
rs1485836507
|
|
NM_198525.3(KIF7):c.137G>A (p.Arg46His)
|
|
|
NM_198525.3(KIF7):c.1381G>A (p.Asp461Asn)
|
rs1185420675
|
|
NM_198525.3(KIF7):c.1384A>G (p.Ser462Gly)
|
rs1455184212
|
|
NM_198525.3(KIF7):c.1384_1385delinsTT (p.Ser462Phe)
|
|
|
NM_198525.3(KIF7):c.139G>A (p.Val47Ile)
|
|
|
NM_198525.3(KIF7):c.1425_1439del (p.Gly476_Arg480del)
|
|
|
NM_198525.3(KIF7):c.1456G>T (p.Ala486Ser)
|
|
|
NM_198525.3(KIF7):c.1466T>C (p.Leu489Pro)
|
rs2142026620
|
|
NM_198525.3(KIF7):c.1481A>C (p.Asn494Thr)
|
rs1313323843
|
|
NM_198525.3(KIF7):c.1481A>G (p.Asn494Ser)
|
|
|
NM_198525.3(KIF7):c.1486G>C (p.Val496Leu)
|
|
|
NM_198525.3(KIF7):c.1519C>G (p.Leu507Val)
|
|
|
NM_198525.3(KIF7):c.1522G>T (p.Ala508Ser)
|
rs764052631
|
|
NM_198525.3(KIF7):c.1560+5G>A
|
|
|
NM_198525.3(KIF7):c.1576G>C (p.Glu526Gln)
|
|
|
NM_198525.3(KIF7):c.1585GAG[1] (p.Glu530del)
|
|
|
NM_198525.3(KIF7):c.1603C>T (p.Arg535Trp)
|
|
|
NM_198525.3(KIF7):c.1619T>C (p.Leu540Pro)
|
rs2142025143
|
|
NM_198525.3(KIF7):c.1634G>C (p.Trp545Ser)
|
rs750567055
|
|
NM_198525.3(KIF7):c.1635G>C (p.Trp545Cys)
|
|
|
NM_198525.3(KIF7):c.1645C>G (p.Arg549Gly)
|
rs866153959
|
|
NM_198525.3(KIF7):c.1646G>A (p.Arg549Gln)
|
|
|
NM_198525.3(KIF7):c.1648C>A (p.Leu550Ile)
|
|
|
NM_198525.3(KIF7):c.1658G>A (p.Gly553Asp)
|
rs2142025004
|
|
NM_198525.3(KIF7):c.1666C>T (p.Pro556Ser)
|
|
|
NM_198525.3(KIF7):c.1669G>A (p.Gly557Arg)
|
|
|
NM_198525.3(KIF7):c.1681C>G (p.Pro561Ala)
|
rs1325092086
|
|
NM_198525.3(KIF7):c.1700C>T (p.Pro567Leu)
|
|
|
NM_198525.3(KIF7):c.1709G>A (p.Gly570Asp)
|
rs1057517751
|
|
NM_198525.3(KIF7):c.1709G>C (p.Gly570Ala)
|
|
|
NM_198525.3(KIF7):c.1717G>A (p.Ala573Thr)
|
|
|
NM_198525.3(KIF7):c.1730G>A (p.Gly577Asp)
|
|
|
NM_198525.3(KIF7):c.1735G>A (p.Val579Met)
|
rs531366745
|
|
NM_198525.3(KIF7):c.174C>G (p.His58Gln)
|
rs760396015
|
|
NM_198525.3(KIF7):c.1750C>T (p.Leu584Phe)
|
|
|
NM_198525.3(KIF7):c.175G>A (p.Val59Met)
|
rs369404071
|
|
NM_198525.3(KIF7):c.175G>C (p.Val59Leu)
|
rs369404071
|
|
NM_198525.3(KIF7):c.1804A>T (p.Arg602Trp)
|
|
|
NM_198525.3(KIF7):c.181C>G (p.Leu61Val)
|
rs1285971751
|
|
NM_198525.3(KIF7):c.1843C>A (p.Leu615Met)
|
|
|
NM_198525.3(KIF7):c.1879G>C (p.Glu627Gln)
|
|
|
NM_198525.3(KIF7):c.1879GAG[4] (p.Glu631del)
|
rs750610579
|
|
NM_198525.3(KIF7):c.1904G>A (p.Arg635Gln)
|
|
|
NM_198525.3(KIF7):c.1904G>C (p.Arg635Pro)
|
|
|
NM_198525.3(KIF7):c.1921A>C (p.Arg641=)
|
rs137905815
|
|
NM_198525.3(KIF7):c.1921A>G (p.Arg641Gly)
|
rs137905815
|
|
NM_198525.3(KIF7):c.1922+6T>G
|
rs1334043252
|
|
NM_198525.3(KIF7):c.1925A>G (p.Asn642Ser)
|
|
|
NM_198525.3(KIF7):c.194C>T (p.Ala65Val)
|
|
|
NM_198525.3(KIF7):c.195_196delinsCA (p.Gly66Arg)
|
rs2142036455
|
|
NM_198525.3(KIF7):c.1967G>A (p.Gly656Glu)
|
|
|
NM_198525.3(KIF7):c.1984A>G (p.Lys662Glu)
|
|
|
NM_198525.3(KIF7):c.2011T>G (p.Leu671Val)
|
|
|
NM_198525.3(KIF7):c.2012T>G (p.Leu671Trp)
|
rs1963993437
|
|
NM_198525.3(KIF7):c.2014G>C (p.Asp672His)
|
|
|
NM_198525.3(KIF7):c.2039-11G>T
|
|
|
NM_198525.3(KIF7):c.2041G>A (p.Val681Ile)
|
|
|
NM_198525.3(KIF7):c.2051G>A (p.Ser684Asn)
|
|
|
NM_198525.3(KIF7):c.2059C>G (p.Arg687Gly)
|
rs138736028
|
|
NM_198525.3(KIF7):c.2062G>A (p.Val688Ile)
|
rs1963989086
|
|
NM_198525.3(KIF7):c.2068G>A (p.Ala690Thr)
|
rs2142021759
|
|
NM_198525.3(KIF7):c.2101T>C (p.Trp701Arg)
|
|
|
NM_198525.3(KIF7):c.2110G>A (p.Ala704Thr)
|
|
|
NM_198525.3(KIF7):c.2137C>A (p.Leu713Met)
|
rs762264287
|
|
NM_198525.3(KIF7):c.2153G>A (p.Arg718His)
|
rs138021610
|
|
NM_198525.3(KIF7):c.2153G>C (p.Arg718Pro)
|
rs138021610
|
|
NM_198525.3(KIF7):c.2155A>G (p.Met719Val)
|
|
|
NM_198525.3(KIF7):c.2176G>C (p.Glu726Gln)
|
rs543188623
|
|
NM_198525.3(KIF7):c.2185C>T (p.Arg729Cys)
|
|
|
NM_198525.3(KIF7):c.2188A>C (p.Thr730Pro)
|
|
|
NM_198525.3(KIF7):c.2215C>T (p.Arg739Cys)
|
rs768766154
|
|
NM_198525.3(KIF7):c.2223C>G (p.His741Gln)
|
rs751746707
|
|
NM_198525.3(KIF7):c.2225G>A (p.Ser742Asn)
|
rs1440715352
|
|
NM_198525.3(KIF7):c.2230C>T (p.Arg744Cys)
|
|
|
NM_198525.3(KIF7):c.2236C>G (p.Arg746Gly)
|
rs141867330
|
|
NM_198525.3(KIF7):c.2236C>T (p.Arg746Trp)
|
rs141867330
|
|
NM_198525.3(KIF7):c.223G>A (p.Val75Ile)
|
|
|
NM_198525.3(KIF7):c.2245G>C (p.Glu749Gln)
|
rs1163621253
|
|
NM_198525.3(KIF7):c.2267G>C (p.Arg756Pro)
|
rs749173316
|
|
NM_198525.3(KIF7):c.2269G>A (p.Ala757Thr)
|
|
|
NM_198525.3(KIF7):c.2304G>C (p.Glu768Asp)
|
|
|
NM_198525.3(KIF7):c.2317G>C (p.Glu773Gln)
|
rs1596074353
|
|
NM_198525.3(KIF7):c.2328T>G (p.Asp776Glu)
|
|
|
NM_198525.3(KIF7):c.2333G>A (p.Gly778Asp)
|
|
|
NM_198525.3(KIF7):c.2335G>A (p.Glu779Lys)
|
|
|
NM_198525.3(KIF7):c.2339G>A (p.Arg780Gln)
|
|
|
NM_198525.3(KIF7):c.2339G>T (p.Arg780Leu)
|
|
|
NM_198525.3(KIF7):c.2344C>G (p.Arg782Gly)
|
rs780592854
|
|
NM_198525.3(KIF7):c.2345G>A (p.Arg782Gln)
|
rs749948143
|
|
NM_198525.3(KIF7):c.2345G>C (p.Arg782Pro)
|
rs749948143
|
|
NM_198525.3(KIF7):c.2358C>A (p.Phe786Leu)
|
|
|
NM_198525.3(KIF7):c.2366G>A (p.Arg789Lys)
|
rs2142016920
|
|
NM_198525.3(KIF7):c.2368G>T (p.Val790Phe)
|
|
|
NM_198525.3(KIF7):c.2374G>C (p.Ala792Pro)
|
|
|
NM_198525.3(KIF7):c.2384G>T (p.Ser795Ile)
|
rs756506659
|
|
NM_198525.3(KIF7):c.2395-14TG[2]
|
rs2142002787
|
|
NM_198525.3(KIF7):c.2406G>C (p.Glu802Asp)
|
rs771424250
|
|
NM_198525.3(KIF7):c.2420C>A (p.Thr807Lys)
|
rs757175418
|
|
NM_198525.3(KIF7):c.2441C>T (p.Ser814Leu)
|
|
|
NM_198525.3(KIF7):c.2456A>C (p.Lys819Thr)
|
rs374111371
|
|
NM_198525.3(KIF7):c.2469G>C (p.Glu823Asp)
|
rs1403464053
|
|
NM_198525.3(KIF7):c.247T>C (p.Phe83Leu)
|
rs770614646
|
|
NM_198525.3(KIF7):c.247T>G (p.Phe83Val)
|
rs770614646
|
|
NM_198525.3(KIF7):c.2487_2488delinsTT (p.Gln829_Leu830delinsHisPhe)
|
rs2142002481
|
|
NM_198525.3(KIF7):c.2494C>T (p.Arg832Trp)
|
rs745638889
|
|
NM_198525.3(KIF7):c.2512C>G (p.Leu838Val)
|
|
|
NM_198525.3(KIF7):c.2519G>A (p.Arg840Lys)
|
|
|
NM_198525.3(KIF7):c.252G>C (p.Glu84Asp)
|
|
|
NM_198525.3(KIF7):c.2536A>T (p.Thr846Ser)
|
|
|
NM_198525.3(KIF7):c.2537C>A (p.Thr846Lys)
|
|
|
NM_198525.3(KIF7):c.2537C>T (p.Thr846Met)
|
rs151034440
|
|
NM_198525.3(KIF7):c.2549G>A (p.Arg850Gln)
|
rs141514601
|
|
NM_198525.3(KIF7):c.2555T>A (p.Leu852Gln)
|
rs2142002317
|
|
NM_198525.3(KIF7):c.2558A>T (p.Glu853Val)
|
|
|
NM_198525.3(KIF7):c.2576G>A (p.Arg859Gln)
|
|
|
NM_198525.3(KIF7):c.2590A>G (p.Lys864Glu)
|
|
|
NM_198525.3(KIF7):c.259A>C (p.Asn87His)
|
rs147947221
|
|
NM_198525.3(KIF7):c.259A>G (p.Asn87Asp)
|
rs147947221
|
|
NM_198525.3(KIF7):c.2610T>A (p.His870Gln)
|
rs771049459
|
|
NM_198525.3(KIF7):c.2611G>A (p.Glu871Lys)
|
rs144359873
|
|
NM_198525.3(KIF7):c.2613G>C (p.Glu871Asp)
|
|
|
NM_198525.3(KIF7):c.262G>A (p.Ala88Thr)
|
|
|
NM_198525.3(KIF7):c.2636T>C (p.Ile879Thr)
|
rs1963725146
|
|
NM_198525.3(KIF7):c.2654C>A (p.Ala885Glu)
|
rs774073055
|
|
NM_198525.3(KIF7):c.2654C>T (p.Ala885Val)
|
rs774073055
|
|
NM_198525.3(KIF7):c.2689G>A (p.Gly897Ser)
|
rs149548398
|
|
NM_198525.3(KIF7):c.2689G>C (p.Gly897Arg)
|
rs149548398
|
|
NM_198525.3(KIF7):c.2691C>G (p.Gly897=)
|
|
|
NM_198525.3(KIF7):c.2692T>C (p.Ser898Pro)
|
|
|
NM_198525.3(KIF7):c.2702G>C (p.Ser901Thr)
|
rs2142001211
|
|
NM_198525.3(KIF7):c.2704C>G (p.Leu902Val)
|
rs1293379353
|
|
NM_198525.3(KIF7):c.2705T>C (p.Leu902Pro)
|
rs2142001189
|
|
NM_198525.3(KIF7):c.2717A>C (p.Gln906Pro)
|
|
|
NM_198525.3(KIF7):c.2723T>C (p.Ile908Thr)
|
|
|
NM_198525.3(KIF7):c.2724T>G (p.Ile908Met)
|
rs1963714856
|
|
NM_198525.3(KIF7):c.2728G>C (p.Glu910Gln)
|
|
|
NM_198525.3(KIF7):c.2734AAG[1] (p.Lys913del)
|
rs769890385
|
|
NM_198525.3(KIF7):c.2743C>A (p.Leu915Met)
|
|
|
NM_198525.3(KIF7):c.2758G>A (p.Glu920Lys)
|
|
|
NM_198525.3(KIF7):c.2770C>G (p.Gln924Glu)
|
|
|
NM_198525.3(KIF7):c.2776C>T (p.Arg926Trp)
|
rs147407072
|
|
NM_198525.3(KIF7):c.2777G>A (p.Arg926Gln)
|
|
|
NM_198525.3(KIF7):c.2777G>T (p.Arg926Leu)
|
|
|
NM_198525.3(KIF7):c.2779C>T (p.Arg927Trp)
|
rs766347192
|
|
NM_198525.3(KIF7):c.2783C>T (p.Ala928Val)
|
rs764218371
|
|
NM_198525.3(KIF7):c.2797G>A (p.Gly933Arg)
|
|
|
NM_198525.3(KIF7):c.2811C>A (p.His937Gln)
|
|
|
NM_198525.3(KIF7):c.2833AAG[1] (p.Lys946del)
|
|
|
NM_198525.3(KIF7):c.2836A>G (p.Lys946Glu)
|
|
|
NM_198525.3(KIF7):c.286A>C (p.Thr96Pro)
|
|
|
NM_198525.3(KIF7):c.2890A>G (p.Ser964Gly)
|
|
|
NM_198525.3(KIF7):c.2895+17_2895+31del
|
rs371062109
|
|
NM_198525.3(KIF7):c.2896-14_2896-13delinsAC
|
|
|
NM_198525.3(KIF7):c.2896-17G>A
|
rs935084157
|
|
NM_198525.3(KIF7):c.2914G>T (p.Val972Leu)
|
rs79839906
|
|
NM_198525.3(KIF7):c.2917C>G (p.Arg973Gly)
|
rs202229910
|
|
NM_198525.3(KIF7):c.2918G>C (p.Arg973Pro)
|
rs762483775
|
|
NM_198525.3(KIF7):c.2923T>C (p.Ser975Pro)
|
rs2141998345
|
|
NM_198525.3(KIF7):c.2929C>T (p.Arg977Trp)
|
rs759367222
|
|
NM_198525.3(KIF7):c.2956T>C (p.Ser986Pro)
|
rs2141998277
|
|
NM_198525.3(KIF7):c.2959_2961del (p.Glu987del)
|
|
|
NM_198525.3(KIF7):c.2963A>G (p.Lys988Arg)
|
|
|
NM_198525.3(KIF7):c.2964G>C (p.Lys988Asn)
|
|
|
NM_198525.3(KIF7):c.2977C>T (p.Arg993Trp)
|
|
|
NM_198525.3(KIF7):c.2982G>T (p.Gln994His)
|
|
|
NM_198525.3(KIF7):c.2989G>A (p.Ala997Thr)
|
|
|
NM_198525.3(KIF7):c.2993A>G (p.Gln998Arg)
|
|
|
NM_198525.3(KIF7):c.29G>A (p.Gly10Glu)
|
|
|
NM_198525.3(KIF7):c.3047C>T (p.Ser1016Leu)
|
|
|
NM_198525.3(KIF7):c.3062G>A (p.Arg1021His)
|
|
|
NM_198525.3(KIF7):c.3067G>A (p.Glu1023Lys)
|
|
|
NM_198525.3(KIF7):c.3076G>A (p.Gly1026Ser)
|
|
|
NM_198525.3(KIF7):c.3119G>A (p.Arg1040Gln)
|
|
|
NM_198525.3(KIF7):c.311T>G (p.Met104Arg)
|
|
|
NM_198525.3(KIF7):c.3133T>G (p.Leu1045Val)
|
|
|
NM_198525.3(KIF7):c.3148G>A (p.Glu1050Lys)
|
|
|
NM_198525.3(KIF7):c.3173A>G (p.Tyr1058Cys)
|
|
|
NM_198525.3(KIF7):c.3201G>T (p.Gln1067His)
|
|
|
NM_198525.3(KIF7):c.3241G>A (p.Glu1081Lys)
|
|
|
NM_198525.3(KIF7):c.3246G>T (p.Met1082Ile)
|
rs1423214607
|
|
NM_198525.3(KIF7):c.326T>C (p.Val109Ala)
|
|
|
NM_198525.3(KIF7):c.3274_3282dup (p.Ser1092_Ser1094dup)
|
rs752092734
|
|
NM_198525.3(KIF7):c.3286A>G (p.Thr1096Ala)
|
|
|
NM_198525.3(KIF7):c.329-13G>A
|
|
|
NM_198525.3(KIF7):c.329-5C>A
|
|
|
NM_198525.3(KIF7):c.3317A>G (p.Lys1106Arg)
|
|
|
NM_198525.3(KIF7):c.3318+3G>A
|
|
|
NM_198525.3(KIF7):c.3319-3C>G
|
rs1596065056
|
|
NM_198525.3(KIF7):c.3320T>C (p.Val1107Ala)
|
rs1224341278
|
|
NM_198525.3(KIF7):c.3328C>T (p.Leu1110Phe)
|
|
|
NM_198525.3(KIF7):c.3331C>G (p.Arg1111Gly)
|
|
|
NM_198525.3(KIF7):c.3332G>A (p.Arg1111Gln)
|
rs752985477
|
|
NM_198525.3(KIF7):c.3365C>G (p.Ser1122Trp)
|
rs202195179
|
|
NM_198525.3(KIF7):c.3365C>T (p.Ser1122Leu)
|
rs202195179
|
|
NM_198525.3(KIF7):c.3366G>A (p.Ser1122=)
|
|
|
NM_198525.3(KIF7):c.3379C>G (p.Gln1127Glu)
|
|
|
NM_198525.3(KIF7):c.3383T>C (p.Leu1128Pro)
|
|
|
NM_198525.3(KIF7):c.3391C>G (p.Gln1131Glu)
|
|
|
NM_198525.3(KIF7):c.3431G>A (p.Arg1144Gln)
|
rs756521084
|
|
NM_198525.3(KIF7):c.3431G>T (p.Arg1144Leu)
|
rs756521084
|
|
NM_198525.3(KIF7):c.3437G>A (p.Arg1146His)
|
|
|
NM_198525.3(KIF7):c.3460A>T (p.Thr1154Ser)
|
rs1963621732
|
|
NM_198525.3(KIF7):c.3466CAG[1] (p.Gln1157del)
|
rs2141994017
|
|
NM_198525.3(KIF7):c.3472A>C (p.Lys1158Gln)
|
rs748294001
|
|
NM_198525.3(KIF7):c.3474G>T (p.Lys1158Asn)
|
rs1963621332
|
|
NM_198525.3(KIF7):c.3480C>G (p.His1160Gln)
|
|
|
NM_198525.3(KIF7):c.3481G>C (p.Glu1161Gln)
|
rs567337105
|
|
NM_198525.3(KIF7):c.3518-3T>C
|
rs2141992844
|
|
NM_198525.3(KIF7):c.3526G>A (p.Gly1176Ser)
|
|
|
NM_198525.3(KIF7):c.3526G>C (p.Gly1176Arg)
|
rs76346806
|
|
NM_198525.3(KIF7):c.3542A>G (p.Asp1181Gly)
|
rs766236000
|
|
NM_198525.3(KIF7):c.3570T>G (p.Ile1190Met)
|
rs1408166081
|
|
NM_198525.3(KIF7):c.3574G>A (p.Ala1192Thr)
|
rs2141992697
|
|
NM_198525.3(KIF7):c.3602T>C (p.Met1201Thr)
|
|
|
NM_198525.3(KIF7):c.3624_3629dup (p.Gln1209_Lys1210dup)
|
rs752086211
|
|
NM_198525.3(KIF7):c.362C>T (p.Pro121Leu)
|
|
|
NM_198525.3(KIF7):c.3637G>A (p.Gly1213Ser)
|
rs143316368
|
|
NM_198525.3(KIF7):c.3637G>T (p.Gly1213Cys)
|
|
|
NM_198525.3(KIF7):c.3664+1G>A
|
|
|
NM_198525.3(KIF7):c.3664+2dup
|
|
|
NM_198525.3(KIF7):c.3664+5C>G
|
|
|
NM_198525.3(KIF7):c.3704C>T (p.Ala1235Val)
|
|
|
NM_198525.3(KIF7):c.3737C>T (p.Pro1246Leu)
|
rs2141991796
|
|
NM_198525.3(KIF7):c.3739G>A (p.Glu1247Lys)
|
|
|
NM_198525.3(KIF7):c.3742C>T (p.Leu1248Phe)
|
|
|
NM_198525.3(KIF7):c.374C>T (p.Ala125Val)
|
|
|
NM_198525.3(KIF7):c.3754_3771dup (p.Ser1252_Gly1257dup)
|
rs775576101
|
|
NM_198525.3(KIF7):c.3760C>A (p.Leu1254Ile)
|
|
|
NM_198525.3(KIF7):c.3760dup (p.Leu1254fs)
|
|
|
NM_198525.3(KIF7):c.3761_3778del (p.Leu1254_Pro1259del)
|
rs749230267
|
|
NM_198525.3(KIF7):c.3765_3782del (p.Glu1256_Thr1261del)
|
rs1963591052
|
|
NM_198525.3(KIF7):c.3772G>A (p.Ala1258Thr)
|
|
|
NM_198525.3(KIF7):c.3773C>A (p.Ala1258Asp)
|
|
|
NM_198525.3(KIF7):c.3778C>T (p.Arg1260Cys)
|
|
|
NM_198525.3(KIF7):c.3778dup (p.Arg1260fs)
|
rs777426943
|
|
NM_198525.3(KIF7):c.3796C>T (p.Arg1266Trp)
|
|
|
NM_198525.3(KIF7):c.37G>A (p.Glu13Lys)
|
|
|
NM_198525.3(KIF7):c.3812C>A (p.Ala1271Asp)
|
rs2141991400
|
|
NM_198525.3(KIF7):c.3851G>C (p.Gly1284Ala)
|
|
|
NM_198525.3(KIF7):c.3866C>A (p.Ser1289Tyr)
|
|
|
NM_198525.3(KIF7):c.3866C>T (p.Ser1289Phe)
|
rs750002097
|
|
NM_198525.3(KIF7):c.386A>G (p.Lys129Arg)
|
|
|
NM_198525.3(KIF7):c.3887G>A (p.Arg1296Gln)
|
|
|
NM_198525.3(KIF7):c.3907G>C (p.Val1303Leu)
|
|
|
NM_198525.3(KIF7):c.3913C>T (p.Arg1305Trp)
|
|
|
NM_198525.3(KIF7):c.3953T>C (p.Phe1318Ser)
|
|
|
NM_198525.3(KIF7):c.3955G>A (p.Gly1319Arg)
|
|
|
NM_198525.3(KIF7):c.3985C>T (p.Arg1329Ter)
|
|
|
NM_198525.3(KIF7):c.3986G>A (p.Arg1329Gln)
|
rs202214398
|
|
NM_198525.3(KIF7):c.3986G>C (p.Arg1329Pro)
|
|
|
NM_198525.3(KIF7):c.3986_3997del (p.Arg1329_Ser1332del)
|
rs780942335
|
|
NM_198525.3(KIF7):c.3996_4000dup (p.Gly1334fs)
|
rs2141990790
|
|
NM_198525.3(KIF7):c.4002del (p.Gly1334_Met1335insTer)
|
|
|
NM_198525.3(KIF7):c.4021A>C (p.Asn1341His)
|
rs2141990725
|
|
NM_198525.3(KIF7):c.4025C>G (p.Pro1342Arg)
|
|
|
NM_198525.3(KIF7):c.406C>G (p.Leu136Val)
|
|
|
NM_198525.3(KIF7):c.418C>A (p.Leu140Met)
|
|
|
NM_198525.3(KIF7):c.424C>G (p.His142Asp)
|
rs2142032123
|
|
NM_198525.3(KIF7):c.467T>A (p.Leu156Gln)
|
rs2142032037
|
|
NM_198525.3(KIF7):c.482C>T (p.Thr161Ile)
|
|
|
NM_198525.3(KIF7):c.484_485delinsAA (p.Ala162Asn)
|
|
|
NM_198525.3(KIF7):c.490C>T (p.Arg164Cys)
|
|
|
NM_198525.3(KIF7):c.491G>A (p.Arg164His)
|
|
|
NM_198525.3(KIF7):c.50G>C (p.Arg17Pro)
|
|
|
NM_198525.3(KIF7):c.518G>A (p.Arg173His)
|
|
|
NM_198525.3(KIF7):c.52G>A (p.Val18Ile)
|
rs1420854824
|
|
NM_198525.3(KIF7):c.541G>A (p.Val181Met)
|
|
|
NM_198525.3(KIF7):c.556G>C (p.Val186Leu)
|
|
|
NM_198525.3(KIF7):c.59T>C (p.Leu20Pro)
|
|
|
NM_198525.3(KIF7):c.608G>A (p.Arg203Gln)
|
rs1179864977
|
|
NM_198525.3(KIF7):c.615G>A (p.Thr205=)
|
rs2142031012
|
|
NM_198525.3(KIF7):c.623C>A (p.Thr208Lys)
|
|
|
NM_198525.3(KIF7):c.625C>A (p.His209Asn)
|
|
|
NM_198525.3(KIF7):c.62G>C (p.Arg21Pro)
|
rs935846747
|
|
NM_198525.3(KIF7):c.637C>G (p.Leu213Val)
|
rs967375546
|
|
NM_198525.3(KIF7):c.640T>A (p.Ser214Thr)
|
rs1333950635
|
|
NM_198525.3(KIF7):c.646C>A (p.Arg216Ser)
|
|
|
NM_198525.3(KIF7):c.653A>G (p.His218Arg)
|
|
|
NM_198525.3(KIF7):c.682C>T (p.Arg228Trp)
|
|
|
NM_198525.3(KIF7):c.688C>A (p.Arg230Ser)
|
|
|
NM_198525.3(KIF7):c.710G>A (p.Arg237His)
|
rs529571444
|
|
NM_198525.3(KIF7):c.715G>A (p.Ala239Thr)
|
|
|
NM_198525.3(KIF7):c.734T>C (p.Val245Ala)
|
|
|
NM_198525.3(KIF7):c.736T>C (p.Ser246Pro)
|
|
|
NM_198525.3(KIF7):c.739A>C (p.Lys247Gln)
|
rs1964079117
|
|
NM_198525.3(KIF7):c.778C>T (p.Leu260Phe)
|
|
|
NM_198525.3(KIF7):c.796G>C (p.Gly266Arg)
|
|
|
NM_198525.3(KIF7):c.808_810del (p.Lys270del)
|
|
|
NM_198525.3(KIF7):c.871G>A (p.Asp291Asn)
|
|
|
NM_198525.3(KIF7):c.874C>T (p.Pro292Ser)
|
rs2142030215
|
|
NM_198525.3(KIF7):c.914A>G (p.Lys305Arg)
|
rs1411628239
|
|
NM_198525.3(KIF7):c.916A>G (p.Ile306Val)
|
|
|
NM_198525.3(KIF7):c.925A>T (p.Ile309Phe)
|
rs2142029652
|
|
NM_198525.3(KIF7):c.946G>T (p.Gly316Trp)
|
rs1383459229
|
|
NM_198525.3(KIF7):c.967A>G (p.Ile323Val)
|
rs1048051000
|
|
NM_198525.3(KIF7):c.971C>T (p.Ala324Val)
|
rs2142029500
|
|
NM_198525.3(KIF7):c.98G>A (p.Gly33Glu)
|
rs2142036702
|
|
NM_213607.3(CCDC103):c.133G>A (p.Glu45Lys)
|
rs748579846
|
|
NM_213607.3(CCDC103):c.146G>A (p.Gly49Asp)
|
rs148724732
|
|
NM_213607.3(CCDC103):c.146G>C (p.Gly49Ala)
|
rs148724732
|
|
NM_213607.3(CCDC103):c.226C>T (p.His76Tyr)
|
|
|
NM_213607.3(CCDC103):c.276+4G>A
|
|
|
NM_213607.3(CCDC103):c.276+4G>T
|
rs373891184
|
|
NM_213607.3(CCDC103):c.276G>A (p.Pro92=)
|
rs749064353
|
|
NM_213607.3(CCDC103):c.277G>A (p.Glu93Lys)
|
|
|
NM_213607.3(CCDC103):c.310G>C (p.Asp104His)
|
|
|
NM_213607.3(CCDC103):c.319C>T (p.Arg107Cys)
|
|
|
NM_213607.3(CCDC103):c.325T>G (p.Trp109Gly)
|
|
|
NM_213607.3(CCDC103):c.332G>T (p.Arg111Leu)
|
rs367570529
|
|
NM_213607.3(CCDC103):c.343A>T (p.Ser115Cys)
|
|
|
NM_213607.3(CCDC103):c.448G>T (p.Ala150Ser)
|
|
|
NM_213607.3(CCDC103):c.478C>T (p.Arg160Trp)
|
|
|
NM_213607.3(CCDC103):c.530C>T (p.Thr177Ile)
|
|
|
NM_213607.3(CCDC103):c.59T>C (p.Leu20Pro)
|
rs2145607592
|
|
NM_213607.3(CCDC103):c.603G>T (p.Met201Ile)
|
|
|
Single allele
|
|
|