ClinVar Miner

List of variants reported as uncertain significance for ciliopathy by Invitae

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22438
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HGVS dbSNP gnomAD frequency
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
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
NC_000009.11:g.(?_131418800)_(131419005_?)dup
NC_000009.11:g.(?_139297240)_(139572028_?)dup
NC_000009.11:g.(?_139328469)_(139333871_?)dup
NC_000009.11:g.(?_32453279)_(37785041_?)dup
NC_000009.11:g.(?_34520636)_(34520754_?)dup
NC_000009.12:g.(?_136434017)_(136439439_?)dup
NC_000009.12:g.(?_136434037)_(136457584_?)dup
NC_000010.10:g.(?_28101421)_(28101574_?)dup
NC_000010.10:g.(?_28101421)_(28250664_?)dup
NC_000010.10:g.(?_97440209)_(97440386_?)del
NC_000010.10:g.(?_97442388)_(97516032_?)dup
NC_000011.10:g.(?_103282179)_(103282229_?)del
NC_000011.10:g.(?_103479075)_(103479273_?)dup
NC_000011.9:g.(?_102980304)_(103194738_?)dup
NC_000011.9:g.(?_102980304)_(103349981_?)dup
NC_000011.9:g.(?_103228951)_(103229107_?)del
NC_000011.9:g.(?_103325894)_(103349981_?)dup
NC_000011.9:g.(?_103349803)_(103349981_?)dup
NC_000011.9:g.(?_117209303)_(117222724_?)dup
NC_000011.9:g.(?_117209303)_(117234242_?)dup
NC_000011.9:g.(?_117232531)_(117233274_?)del
NC_000011.9:g.(?_117233107)_117234066del
NC_000011.9:g.(?_117261473)_(117342771_?)dup
NC_000011.9:g.(?_117278705)_(117284975_?)del
NC_000011.9:g.(?_61165722)_(61197674_?)dup
NC_000011.9:g.(?_66278131)_(66278730_?)dup
NC_000012.11:g.(?_124114696)_(124192260_?)dup
NC_000012.11:g.(?_124158142)_(124163856_?)dup
NC_000012.11:g.(?_124177185)_(124177290_?)del
NC_000012.11:g.(?_124192131)_(124192260_?)del
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
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
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
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
NC_000016.9:g.(?_53635988)_(53656288_?)del
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)
NM_001034853.2(RPGR):c.2520_2561del (p.829EEEEGEG[2])
NM_001034853.2(RPGR):c.2525_2578dup (p.Glu859_Glu860insGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGlu)
NM_001034853.2(RPGR):c.2527G>A (p.Glu843Lys)
NM_001034853.2(RPGR):c.2539G>A (p.Gly847Arg) rs1454586504
NM_001034853.2(RPGR):c.2557G>A (p.Glu853Lys)
NM_001034853.2(RPGR):c.2564A>G (p.Glu855Gly)
NM_001034853.2(RPGR):c.2566G>A (p.Gly856Arg)
NM_001034853.2(RPGR):c.2577GGAAGAAGG[1] (p.861EGE[1])
NM_001034853.2(RPGR):c.2589_2603del (p.Gly865_Glu869del)
NM_001034853.2(RPGR):c.2594_2596del (p.Gly865del) rs771584745
NM_001034853.2(RPGR):c.2595_2612del (p.Gly867_Glu872del)
NM_001034853.2(RPGR):c.2598_2599insCGGGAGGAAGAAGGGGAGGAAGGAGAA (p.Glu866_Gly867insArgGluGluGluGlyGluGluGlyGlu)
NM_001034853.2(RPGR):c.2606A>G (p.Glu869Gly)
NM_001034853.2(RPGR):c.2609A>G (p.Glu870Gly)
NM_001034853.2(RPGR):c.2612G>A (p.Gly871Glu)
NM_001034853.2(RPGR):c.2618_2632del (p.Glu873_Glu877del)
NM_001034853.2(RPGR):c.2618_2632dup (p.Glu877_Gly878insGluGlyGluGlyGlu)
NM_001034853.2(RPGR):c.2621_2623del (p.Gly874del)
NM_001034853.2(RPGR):c.2633_2640delinsAAGAAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAA (p.Gly878_Glu879delinsGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGly)
NM_001034853.2(RPGR):c.2634_2684del (p.886EGEEEGEGEGEEEEGEG[1])
NM_001034853.2(RPGR):c.2640GGA[1] (p.Glu882del)
NM_001034853.2(RPGR):c.2646AGGAGAAGGGGAGGGAGAAGAGGA[1] (p.883GEGEGEEE[1])
NM_001034853.2(RPGR):c.2653G>A (p.Gly885Arg)
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[1] (p.886EGEEEGEGEGEEEEGEG[1])
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[3] (p.Gly919_Lys920insGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly)
NM_001034853.2(RPGR):c.2660G>A (p.Gly887Glu)
NM_001034853.2(RPGR):c.2666_2671del (p.Glu889_Glu890del)
NM_001034853.2(RPGR):c.2667GGAAGGAGAAGGGGAGGGAGAAGAGGA[1] (p.890EGEGEGEEE[1])
NM_001034853.2(RPGR):c.2667GGAAGGAGAAGGGGAGGGAGAAGAGGA[3] (p.Glu907_Gly908insGluGlyGluGlyGluGlyGluGluGlu)
NM_001034853.2(RPGR):c.2678G>T (p.Gly893Val)
NM_001034853.2(RPGR):c.2680_2757dup (p.Gly919_Lys920insGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly)
NM_001034853.2(RPGR):c.2682_2696del (p.Glu897_Glu901del)
NM_001034853.2(RPGR):c.2684G>A (p.Gly895Glu)
NM_001034853.2(RPGR):c.2686G>A (p.Glu896Lys)
NM_001034853.2(RPGR):c.2693A>G (p.Glu898Gly)
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[1] (p.900GEGEGEEE[1])
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3]) rs757402645
NM_001034853.2(RPGR):c.2720A>G (p.Glu907Gly)
NM_001034853.2(RPGR):c.2725_2757dup (p.Gly919_Lys920insGluGlyGluGlyGluGluGluGluGlyGluGly)
NM_001034853.2(RPGR):c.2729G>T (p.Gly910Val)
NM_001034853.2(RPGR):c.2731_2757del (p.Glu911_Gly919del)
NM_001034853.2(RPGR):c.2733_2819dup (p.Glu942_Asp943insGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGlu)
NM_001034853.2(RPGR):c.2747_2749del (p.Glu916del)
NM_001034853.2(RPGR):c.2750_2752del (p.Gly917del)
NM_001034853.2(RPGR):c.2763GGA[2] (p.Glu924del) rs2067156760
NM_001034853.2(RPGR):c.2767G>A (p.Glu923Lys)
NM_001034853.2(RPGR):c.2774_2776del (p.Gly925del)
NM_001034853.2(RPGR):c.2778_2813dup (p.Glu938_Gly939insGluGlyGluGlyGluGlyGluGluGluGluGlyGlu)
NM_001034853.2(RPGR):c.277G>T (p.Ala93Ser)
NM_001034853.2(RPGR):c.2782G>A (p.Gly928Arg)
NM_001034853.2(RPGR):c.2784_2789del (p.928GE[2])
NM_001034853.2(RPGR):c.2790_2810del (p.Glu934_Glu940del)
NM_001034853.2(RPGR):c.2802GGA[1] (p.Glu936del) rs1238945219
NM_001034853.2(RPGR):c.2803G>A (p.Glu935Lys)
NM_001034853.2(RPGR):c.2805_2906del (p.Glu936_Glu969del)
NM_001034853.2(RPGR):c.2810_2812del (p.Gly937del)
NM_001034853.2(RPGR):c.2811_2816del (p.937GE[2])
NM_001034853.2(RPGR):c.2815_2862del (p.Gly939_Glu954del) rs1569236115
NM_001034853.2(RPGR):c.2820AGGGGAGGATGGAGAAGGGGA[3] (p.Glu949_Glu950insAspGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGlu)
NM_001034853.2(RPGR):c.2820_2821insAGGGAGGATGGAGAAGGGGAA (p.Glu940_Gly941insArgGluAspGlyGluGlyGlu)
NM_001034853.2(RPGR):c.2829T>A (p.Asp943Glu)
NM_001034853.2(RPGR):c.2835_2840dup (p.Glu949_Glu950insGlyGlu)
NM_001034853.2(RPGR):c.2836G>T (p.Gly946Trp)
NM_001034853.2(RPGR):c.2840_2841insAGGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGA (p.Glu949_Glu950insAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGlu)
NM_001034853.2(RPGR):c.2841_2863delinsAGGGGAGGATGGAGAAG (p.Glu950_Trp955delinsAspGlyGluGly)
NM_001034853.2(RPGR):c.2845G>A (p.Glu949Lys)
NM_001034853.2(RPGR):c.2847_2856delinsGGAT (p.Glu950_Glu952delinsAsp)
NM_001034853.2(RPGR):c.2850GGA[1] (p.Glu952del)
NM_001034853.2(RPGR):c.2852A>G (p.Glu951Gly)
NM_001034853.2(RPGR):c.2854G>A (p.Glu952Lys)
NM_001034853.2(RPGR):c.2863_2889dup (p.Glu963_Gly964insTrpGluGlyGluGluGluGluGlyGlu)
NM_001034853.2(RPGR):c.2875_2876insGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAG (p.944_958GE[3]EEEGEWEGEGEEGEGEGEEEEGEWEGE[1]) rs1569236068
NM_001034853.2(RPGR):c.2876A>G (p.Glu959Gly)
NM_001034853.2(RPGR):c.2877GGA[1] (p.Glu961del)
NM_001034853.2(RPGR):c.287G>A (p.Arg96Lys) rs2147285696
NM_001034853.2(RPGR):c.29-3C>T
NM_001034853.2(RPGR):c.2904_2906dup (p.Glu969_Gly970insGlu)
NM_001034853.2(RPGR):c.2906_2907insGGAAGGAGAATGGGAGGGGGAAGAGGA (p.Glu969_Gly970insGluGlyGluTrpGluGlyGluGluGlu)
NM_001034853.2(RPGR):c.2914G>A (p.Gly972Arg)
NM_001034853.2(RPGR):c.2921_2947dup (p.Glu982_Glu983insGlyGluGluGlyGluGlyGluGlyGlu)
NM_001034853.2(RPGR):c.2927_2941del (p.971EGEGE[1])
NM_001034853.2(RPGR):c.2931AGAAGGGGAGGGGGAAGAGGAGGAAGG[1] (p.979GEGEEEEGE[1])
NM_001034853.2(RPGR):c.2933A>G (p.Glu978Gly)
NM_001034853.2(RPGR):c.2935G>T (p.Gly979Trp)
NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGAAGGGGA (p.Glu984_Glu985insGlyGluGlyGluGluGlu)
NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGA (p.Glu983_Glu984insGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGlu)
NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGA (p.Glu983_Glu984insGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGlu)
NM_001034853.2(RPGR):c.2946_2951del (p.Glu984_Glu985del) rs767210576
NM_001034853.2(RPGR):c.2962G>A (p.Gly988Arg)
NM_001034853.2(RPGR):c.2976_2990del (p.989EGEEE[1]) rs761365864
NM_001034853.2(RPGR):c.2986G>A (p.Glu996Lys)
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del) rs1356107537
NM_001034853.2(RPGR):c.2988_2999dup (p.Glu1004_Gly1005insGluGluGlyGlu)
NM_001034853.2(RPGR):c.2997_3008del (p.993EEGE[2])
NM_001034853.2(RPGR):c.3002AAG[1] (p.Glu1002del)
NM_001034853.2(RPGR):c.3008_3010del (p.Gly1003del)
NM_001034853.2(RPGR):c.3018G>C (p.Glu1006Asp)
NM_001034853.2(RPGR):c.3020AAG[1] (p.Glu1008del)
NM_001034853.2(RPGR):c.3020_3031del (p.Glu1007_Glu1010del)
NM_001034853.2(RPGR):c.3022G>A (p.Glu1008Lys)
NM_001034853.2(RPGR):c.3032_3043del (p.1009GE[1])
NM_001034853.2(RPGR):c.3044A>G (p.Glu1015Gly)
NM_001034853.2(RPGR):c.3051_3065del (p.Glu1018_Glu1022del)
NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[3] (p.Glu1028_Glu1029insValGluGlyGlu)
NM_001034853.2(RPGR):c.3070G>C (p.Glu1024Gln)
NM_001034853.2(RPGR):c.3071A>G (p.Glu1024Gly)
NM_001034853.2(RPGR):c.308C>T (p.Thr103Ile) rs2147285611
NM_001034853.2(RPGR):c.3095_3106del (p.1030GE[1])
NM_001034853.2(RPGR):c.310+3A>G rs62638640
NM_001034853.2(RPGR):c.3143AGG[1] (p.Glu1049del)
NM_001034853.2(RPGR):c.3149G>A (p.Gly1050Glu)
NM_001034853.2(RPGR):c.3167GGA[1] (p.Arg1057del)
NM_001034853.2(RPGR):c.3172A>G (p.Asn1058Asp)
NM_001034853.2(RPGR):c.3186G>C (p.Glu1062Asp)
NM_001034853.2(RPGR):c.3199G>A (p.Gly1067Arg)
NM_001034853.2(RPGR):c.3266G>A (p.Ser1089Asn)
NM_001034853.2(RPGR):c.3271A>G (p.Ile1091Val)
NM_001034853.2(RPGR):c.3317A>T (p.Lys1106Met)
NM_001034853.2(RPGR):c.3342T>G (p.Asn1114Lys)
NM_001034853.2(RPGR):c.3351G>C (p.Glu1117Asp)
NM_001034853.2(RPGR):c.3377C>T (p.Ser1126Leu)
NM_001034853.2(RPGR):c.3396C>A (p.Asn1132Lys)
NM_001034853.2(RPGR):c.3396del (p.Asn1132fs)
NM_001034853.2(RPGR):c.3397G>A (p.Gly1133Arg)
NM_001034853.2(RPGR):c.3416A>C (p.Lys1139Thr)
NM_001034853.2(RPGR):c.3423G>A (p.Trp1141Ter)
NM_001034853.2(RPGR):c.344A>G (p.Asn115Ser) rs2147280549
NM_001034853.2(RPGR):c.353A>C (p.Gln118Pro)
NM_001034853.2(RPGR):c.354G>C (p.Gln118His) rs2147280538
NM_001034853.2(RPGR):c.356T>C (p.Leu119Ser)
NM_001034853.2(RPGR):c.369C>G (p.Asp123Glu) rs2147280505
NM_001034853.2(RPGR):c.38C>T (p.Ala13Val)
NM_001034853.2(RPGR):c.392A>G (p.His131Arg)
NM_001034853.2(RPGR):c.397A>T (p.Ile133Phe)
NM_001034853.2(RPGR):c.408T>A (p.Phe136Leu)
NM_001034853.2(RPGR):c.41T>A (p.Val14Glu)
NM_001034853.2(RPGR):c.436T>C (p.Ser146Pro) rs2147280274
NM_001034853.2(RPGR):c.439G>A (p.Ala147Thr)
NM_001034853.2(RPGR):c.452C>T (p.Thr151Ile) rs1060501180
NM_001034853.2(RPGR):c.454T>C (p.Ser152Pro)
NM_001034853.2(RPGR):c.466A>G (p.Thr156Ala)
NM_001034853.2(RPGR):c.467C>A (p.Thr156Asn) rs751512713
NM_001034853.2(RPGR):c.469+4A>G
NM_001034853.2(RPGR):c.488T>A (p.Met163Lys)
NM_001034853.2(RPGR):c.490T>G (p.Trp164Gly)
NM_001034853.2(RPGR):c.503C>A (p.Ser168Tyr)
NM_001034853.2(RPGR):c.561_562insTTG (p.Thr187_Ile188insLeu)
NM_001034853.2(RPGR):c.562A>G (p.Ile188Val)
NM_001034853.2(RPGR):c.587C>G (p.Ser196Cys)
NM_001034853.2(RPGR):c.617C>G (p.Thr206Arg)
NM_001034853.2(RPGR):c.619+5G>A rs62638649
NM_001034853.2(RPGR):c.619+5G>C
NM_001034853.2(RPGR):c.620-4A>G
NM_001034853.2(RPGR):c.646G>A (p.Glu216Lys)
NM_001034853.2(RPGR):c.673C>T (p.Pro225Ser)
NM_001034853.2(RPGR):c.676A>G (p.Asn226Asp)
NM_001034853.2(RPGR):c.677A>C (p.Asn226Thr)
NM_001034853.2(RPGR):c.677A>G (p.Asn226Ser)
NM_001034853.2(RPGR):c.680A>G (p.Gln227Arg) rs774988145
NM_001034853.2(RPGR):c.68C>A (p.Ala23Asp) rs2147291804
NM_001034853.2(RPGR):c.692A>G (p.Asn231Ser)
NM_001034853.2(RPGR):c.725C>A (p.Pro242Gln)
NM_001034853.2(RPGR):c.725C>T (p.Pro242Leu)
NM_001034853.2(RPGR):c.735G>A (p.Val245=)
NM_001034853.2(RPGR):c.754G>A (p.Gly252Arg)
NM_001034853.2(RPGR):c.900T>G (p.Ile300Met)
NM_001034853.2(RPGR):c.934G>T (p.Asp312Tyr)
NM_001034853.2(RPGR):c.964G>A (p.Gly322Ser)
NM_001034853.2(RPGR):c.967C>G (p.Arg323Gly)
NM_001034853.2(RPGR):c.967C>T (p.Arg323Cys)
NM_001034853.2(RPGR):c.971A>G (p.His324Arg)
NM_001034853.2(RPGR):c.972C>G (p.His324Gln)
NM_001044385.3(TMEM237):c.1015TCT[1] (p.Ser340del)
NM_001044385.3(TMEM237):c.1027G>A (p.Gly343Ser)
NM_001044385.3(TMEM237):c.1051G>A (p.Glu351Lys)
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.1078G>A (p.Val360Met)
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)
NM_001044385.3(TMEM237):c.113A>C (p.Lys38Thr)
NM_001044385.3(TMEM237):c.1141G>A (p.Gly381Ser)
NM_001044385.3(TMEM237):c.1154G>A (p.Ser385Asn) rs1362249907
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
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs) rs761770686
NM_001044385.3(TMEM237):c.1217C>A (p.Ala406Asp)
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
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
NM_006642.5(SDCCAG8):c.986C>G (p.Thr329Arg)
NM_006642.5(SDCCAG8):c.998A>T (p.Glu333Val) rs2149331580
NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe) rs11793196
NM_012144.4(DNAI1):c.1006A>T (p.Thr336Ser) rs1319380844
NM_012144.4(DNAI1):c.1046C>A (p.Ala349Glu)
NM_012144.4(DNAI1):c.1088G>A (p.Gly363Asp)
NM_012144.4(DNAI1):c.112G>A (p.Gly38Ser)
NM_012144.4(DNAI1):c.1132T>G (p.Tyr378Asp)
NM_012144.4(DNAI1):c.1152_1161delinsA (p.Ser384_Met387delinsArg) rs1824938179
NM_012144.4(DNAI1):c.119A>G (p.Asp40Gly) rs553371109
NM_012144.4(DNAI1):c.1205G>A (p.Gly402Asp) rs138954776
NM_012144.4(DNAI1):c.1253C>G (p.Ser418Cys)
NM_012144.4(DNAI1):c.1264T>C (p.Phe422Leu) rs1256336794
NM_012144.4(DNAI1):c.1351_1352inv (p.Phe451Asn)
NM_012144.4(DNAI1):c.1358C>T (p.Ser453Phe) rs570528970
NM_012144.4(DNAI1):c.1366T>C (p.Ser456Pro)
NM_012144.4(DNAI1):c.1390A>G (p.Thr464Ala)
NM_012144.4(DNAI1):c.139G>A (p.Ala47Thr)
NM_012144.4(DNAI1):c.1401+3_1401+10del rs765551840
NM_012144.4(DNAI1):c.1469G>A (p.Gly490Glu)
NM_012144.4(DNAI1):c.1485A>G (p.Pro495=)
NM_012144.4(DNAI1):c.1489G>A (p.Gly497Ser) rs1212462636
NM_012144.4(DNAI1):c.1495G>A (p.Gly499Ser) rs1412970451
NM_012144.4(DNAI1):c.1538T>C (p.Leu513Pro) rs1554691352
NM_012144.4(DNAI1):c.1574C>G (p.Ser525Cys)
NM_012144.4(DNAI1):c.1612G>T (p.Ala538Ser)
NM_012144.4(DNAI1):c.1636G>A (p.Val546Met)
NM_012144.4(DNAI1):c.1637T>C (p.Val546Ala)
NM_012144.4(DNAI1):c.164T>C (p.Leu55Pro)
NM_012144.4(DNAI1):c.1667T>C (p.Phe556Ser) rs1554691490
NM_012144.4(DNAI1):c.1700T>C (p.Ile567Thr) rs1554691495
NM_012144.4(DNAI1):c.1719-3C>T
NM_012144.4(DNAI1):c.1724C>T (p.Pro575Leu)
NM_012144.4(DNAI1):c.1783T>C (p.Ser595Pro)
NM_012144.4(DNAI1):c.1787C>T (p.Thr596Ile) rs2132084252
NM_012144.4(DNAI1):c.178G>A (p.Ala60Thr)
NM_012144.4(DNAI1):c.180G>T (p.Ala60=) rs201120508
NM_012144.4(DNAI1):c.1813G>A (p.Gly605Arg)
NM_012144.4(DNAI1):c.1819-9T>G rs1587094351
NM_012144.4(DNAI1):c.1822C>T (p.His608Tyr)
NM_012144.4(DNAI1):c.1921C>T (p.His641Tyr)
NM_012144.4(DNAI1):c.1925C>G (p.Pro642Arg)
NM_012144.4(DNAI1):c.1935T>G (p.Ile645Met) rs1393988058
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
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
NM_012144.4(DNAI1):c.254G>C (p.Ser85Thr)
NM_012144.4(DNAI1):c.256T>C (p.Phe86Leu)
NM_012144.4(DNAI1):c.302C>T (p.Ala101Val) rs1824534743
NM_012144.4(DNAI1):c.325A>G (p.Asn109Asp) rs1824535486
NM_012144.4(DNAI1):c.353G>T (p.Gly118Val)
NM_012144.4(DNAI1):c.366T>A (p.His122Gln) rs1060503514
NM_012144.4(DNAI1):c.373G>A (p.Asp125Asn)
NM_012144.4(DNAI1):c.409G>A (p.Val137Met)
NM_012144.4(DNAI1):c.419A>T (p.Glu140Val)
NM_012144.4(DNAI1):c.45G>T (p.Lys15Asn)
NM_012144.4(DNAI1):c.48+6G>A
NM_012144.4(DNAI1):c.485A>T (p.Asp162Val) rs1554687745
NM_012144.4(DNAI1):c.501G>T (p.Gly167=)
NM_012144.4(DNAI1):c.503C>A (p.Ala168Glu)
NM_012144.4(DNAI1):c.557G>A (p.Arg186Lys) rs1178602656
NM_012144.4(DNAI1):c.601A>T (p.Thr201Ser)
NM_012144.4(DNAI1):c.646C>T (p.Pro216Ser) rs1824592383
NM_012144.4(DNAI1):c.658A>G (p.Asn220Asp)
NM_012144.4(DNAI1):c.710A>T (p.Glu237Val) rs1824644753
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
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
NM_014714.4(IFT140):c.4123A>G (p.Ile1375Val) rs1258339035
NM_014714.4(IFT140):c.4126G>A (p.Gly1376Arg)
NM_014714.4(IFT140):c.4132G>A (p.Val1378Ile)
NM_014714.4(IFT140):c.4136A>T (p.Tyr1379Phe)
NM_014714.4(IFT140):c.413T>G (p.Val138Gly)
NM_014714.4(IFT140):c.4145T>A (p.Leu1382Gln) rs1454067964
NM_014714.4(IFT140):c.4150G>T (p.Glu1384Ter)
NM_014714.4(IFT140):c.4166A>G (p.Lys1389Arg)
NM_014714.4(IFT140):c.4179G>C (p.Gln1393His) rs2040419700
NM_014714.4(IFT140):c.4180_4182+12del
NM_014714.4(IFT140):c.4187A>G (p.Tyr1396Cys) rs2040132765
NM_014714.4(IFT140):c.4190G>A (p.Arg1397Lys)
NM_014714.4(IFT140):c.41C>T (p.Ala14Val) rs2036120849
NM_014714.4(IFT140):c.4201G>C (p.Glu1401Gln) rs2040132121
NM_014714.4(IFT140):c.4204A>G (p.Met1402Val)
NM_014714.4(IFT140):c.4207del (p.Arg1403fs)
NM_014714.4(IFT140):c.4208G>T (p.Arg1403Leu)
NM_014714.4(IFT140):c.4208GGC[2] (p.Arg1405del) rs754312950
NM_014714.4(IFT140):c.4220C>T (p.Pro1407Leu) rs2141089845
NM_014714.4(IFT140):c.4228A>G (p.Asn1410Asp)
NM_014714.4(IFT140):c.4231A>C (p.Met1411Leu)
NM_014714.4(IFT140):c.4232T>C (p.Met1411Thr) rs752233693
NM_014714.4(IFT140):c.4242C>A (p.Tyr1414Ter)
NM_014714.4(IFT140):c.4258G>A (p.Val1420Met)
NM_014714.4(IFT140):c.4270C>T (p.His1424Tyr)
NM_014714.4(IFT140):c.4272C>A (p.His1424Gln) rs781658694
NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp) rs138697817
NM_014714.4(IFT140):c.4277G>A (p.Gly1426Glu) rs886051708
NM_014714.4(IFT140):c.4277G>T (p.Gly1426Val)
NM_014714.4(IFT140):c.4330A>G (p.Met1444Val) rs547804955
NM_014714.4(IFT140):c.4339G>A (p.Ala1447Thr)
NM_014714.4(IFT140):c.4341del (p.Arg1448fs) rs1209319873
NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del) rs760889117
NM_014714.4(IFT140):c.4366G>A (p.Glu1456Lys) rs1386131080
NM_014714.4(IFT140):c.4386_4387del (p.Ter1463ArgextTer?) rs2040120370
NM_014714.4(IFT140):c.438_440del (p.His146_Glu147delinsGln)
NM_014714.4(IFT140):c.454C>G (p.Leu152Val)
NM_014714.4(IFT140):c.46_57del (p.Gly16_Ser19del)
NM_014714.4(IFT140):c.473G>A (p.Arg158Gln)
NM_014714.4(IFT140):c.476T>C (p.Leu159Pro)
NM_014714.4(IFT140):c.478C>A (p.Pro160Thr)
NM_014714.4(IFT140):c.481C>T (p.Pro161Ser) rs148462329
NM_014714.4(IFT140):c.482C>T (p.Pro161Leu) rs191927317
NM_014714.4(IFT140):c.525C>G (p.Ser175Arg) rs772378665
NM_014714.4(IFT140):c.554A>G (p.Asn185Ser) rs975918006
NM_014714.4(IFT140):c.560A>G (p.Lys187Arg) rs756417017
NM_014714.4(IFT140):c.567C>A (p.Ser189Arg) rs2035217954
NM_014714.4(IFT140):c.570T>G (p.Ser190Arg) rs767008075
NM_014714.4(IFT140):c.583C>A (p.Leu195Met)
NM_014714.4(IFT140):c.584T>C (p.Leu195Pro) rs764851284
NM_014714.4(IFT140):c.587A>G (p.Lys196Arg) rs2141912122
NM_014714.4(IFT140):c.609GTT[1] (p.Leu204del)
NM_014714.4(IFT140):c.624T>A (p.Ser208Arg) rs2035215270
NM_014714.4(IFT140):c.637A>C (p.Thr213Pro) rs2141882480
NM_014714.4(IFT140):c.637A>G (p.Thr213Ala) rs2141882480
NM_014714.4(IFT140):c.638C>T (p.Thr213Ile) rs146302646
NM_014714.4(IFT140):c.644A>G (p.His215Arg)
NM_014714.4(IFT140):c.645C>G (p.His215Gln) rs2035078296
NM_014714.4(IFT140):c.659A>G (p.Lys220Arg)
NM_014714.4(IFT140):c.661G>A (p.Gly221Ser)
NM_014714.4(IFT140):c.676G>T (p.Val226Leu)
NM_014714.4(IFT140):c.700C>A (p.Gln234Lys)
NM_014714.4(IFT140):c.710T>C (p.Phe237Ser)
NM_014714.4(IFT140):c.715A>T (p.Met239Leu)
NM_014714.4(IFT140):c.718_720del (p.Glu240del)
NM_014714.4(IFT140):c.72C>A (p.His24Gln) rs2036118371
NM_014714.4(IFT140):c.73C>G (p.Pro25Ala) rs1408766601
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe) rs886051768
NM_014714.4(IFT140):c.757C>T (p.Arg253Trp)
NM_014714.4(IFT140):c.76G>C (p.Val26Leu)
NM_014714.4(IFT140):c.774G>A (p.Thr258=) rs746955795
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
NM_014714.4(IFT140):c.810G>A (p.Lys270=)
NM_014714.4(IFT140):c.844G>C (p.Asp282His)
NM_014714.4(IFT140):c.849C>G (p.Ile283Met) rs563162000
NM_014714.4(IFT140):c.864C>T (p.Gly288=)
NM_014714.4(IFT140):c.881C>T (p.Ala294Val) rs1452513681
NM_014714.4(IFT140):c.895G>T (p.Ala299Ser)
NM_014714.4(IFT140):c.903-5T>A
NM_014714.4(IFT140):c.913A>G (p.Ile305Val)
NM_014714.4(IFT140):c.914T>C (p.Ile305Thr)
NM_014714.4(IFT140):c.922G>A (p.Gly308Arg)
NM_014714.4(IFT140):c.927G>C (p.Glu309Asp) rs2141852274
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)
NM_014714.4(IFT140):c.94G>T (p.Val32Phe)
NM_014714.4(IFT140):c.973G>A (p.Glu325Lys)
NM_014714.4(IFT140):c.974A>G (p.Glu325Gly)
NM_014714.4(IFT140):c.97G>A (p.Ala33Thr)
NM_014714.4(IFT140):c.986G>A (p.Cys329Tyr)
NM_014714.4(IFT140):c.989T>C (p.Val330Ala) rs2034932329
NM_014714.4(IFT140):c.997T>G (p.Cys333Gly)
NM_014956.5(CEP164):c.1003A>G (p.Thr335Ala) rs2042173963
NM_014956.5(CEP164):c.100C>G (p.Arg34Gly) rs775902514
NM_014956.5(CEP164):c.101G>A (p.Arg34Gln)
NM_014956.5(CEP164):c.101G>T (p.Arg34Leu) rs760829793
NM_014956.5(CEP164):c.1033A>C (p.Lys345Gln)
NM_014956.5(CEP164):c.1052C>T (p.Thr351Ile)
NM_014956.5(CEP164):c.1054G>A (p.Val352Ile)
NM_014956.5(CEP164):c.1055_1057del (p.Val352del)
NM_014956.5(CEP164):c.1058A>G (p.Asp353Gly) rs2135917595
NM_014956.5(CEP164):c.1067AGG[3] (p.Glu357dup) rs2042177715
NM_014956.5(CEP164):c.1075T>C (p.Ser359Pro)
NM_014956.5(CEP164):c.1083_1084delinsAA (p.Glu362Lys) rs2135917914
NM_014956.5(CEP164):c.1089G>T (p.Glu363Asp) rs748917124
NM_014956.5(CEP164):c.1114G>A (p.Ala372Thr) rs2042180668
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
NM_014956.5(CEP164):c.765+4A>T
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)
NM_015631.6(TCTN3):c.1160T>G (p.Val387Gly)
NM_015631.6(TCTN3):c.1163G>C (p.Gly388Ala)
NM_015631.6(TCTN3):c.1176G>C (p.Leu392Phe)
NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr) rs1432135827
NM_015631.6(TCTN3):c.1189G>A (p.Asp397Asn)
NM_015631.6(TCTN3):c.1192A>G (p.Ile398Val)
NM_015631.6(TCTN3):c.1203+5C>T rs2139739478
NM_015631.6(TCTN3):c.1203A>G (p.Ser401=)
NM_015631.6(TCTN3):c.1210C>T (p.Leu404Phe) rs1008019391
NM_015631.6(TCTN3):c.1213T>A (p.Leu405Ile)
NM_015631.6(TCTN3):c.1224_1226del (p.Gln408_Gly409delinsHis)
NM_015631.6(TCTN3):c.1232G>C (p.Gly411Ala)
NM_015631.6(TCTN3):c.1238G>A (p.Cys413Tyr) rs2139738439
NM_015631.6(TCTN3):c.1253A>G (p.His418Arg)
NM_015631.6(TCTN3):c.1259T>G (p.Val420Gly) rs2139738378
NM_015631.6(TCTN3):c.1298G>C (p.Arg433Thr) rs2139738242
NM_015631.6(TCTN3):c.1348C>T (p.Leu450Phe) rs2139737228
NM_015631.6(TCTN3):c.1361C>G (p.Pro454Arg)
NM_015631.6(TCTN3):c.137C>T (p.Thr46Ile)
NM_015631.6(TCTN3):c.1381A>G (p.Ile461Val)
NM_015631.6(TCTN3):c.1402G>C (p.Ala468Pro) rs1218187792
NM_015631.6(TCTN3):c.1415G>A (p.Gly472Glu)
NM_015631.6(TCTN3):c.1417T>C (p.Trp473Arg) rs2097944204
NM_015631.6(TCTN3):c.1421C>G (p.Thr474Ser) rs1190331074
NM_015631.6(TCTN3):c.1438C>T (p.His480Tyr)
NM_015631.6(TCTN3):c.1451C>T (p.Ser484Leu) rs2139736784
NM_015631.6(TCTN3):c.1457T>A (p.Ile486Lys) rs2097942057
NM_015631.6(TCTN3):c.1469C>T (p.Ser490Phe)
NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs) rs1454064691
NM_015631.6(TCTN3):c.1489T>G (p.Ser497Ala)
NM_015631.6(TCTN3):c.1490C>G (p.Ser497Cys)
NM_015631.6(TCTN3):c.1499T>C (p.Ile500Thr)
NM_015631.6(TCTN3):c.1513G>A (p.Ala505Thr)
NM_015631.6(TCTN3):c.1562G>A (p.Arg521Gln)
NM_015631.6(TCTN3):c.1562G>C (p.Arg521Pro) rs765803620
NM_015631.6(TCTN3):c.1564T>C (p.Phe522Leu)
NM_015631.6(TCTN3):c.1575G>T (p.Gln525His)
NM_015631.6(TCTN3):c.1576T>C (p.Cys526Arg)
NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg)
NM_015631.6(TCTN3):c.1583C>A (p.Ser528Tyr)
NM_015631.6(TCTN3):c.1589A>G (p.Gln530Arg) rs1165507491
NM_015631.6(TCTN3):c.1591G>A (p.Asp531Asn)
NM_015631.6(TCTN3):c.1591G>T (p.Asp531Tyr) rs143735885
NM_015631.6(TCTN3):c.1647del (p.Thr550fs) rs2139691832
NM_015631.6(TCTN3):c.1660C>T (p.Gln554Ter) rs2139691743
NM_015631.6(TCTN3):c.1669A>G (p.Arg557Gly)
NM_015631.6(TCTN3):c.1688A>C (p.Asp563Ala)
NM_015631.6(TCTN3):c.1707CTT[1] (p.Phe571del)
NM_015631.6(TCTN3):c.1736G>A (p.Arg579Lys) rs1352225292
NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu) rs1566062590
NM_015631.6(TCTN3):c.1755A>T (p.Lys585Asn)
NM_015631.6(TCTN3):c.1762G>A (p.Val588Ile)
NM_015631.6(TCTN3):c.1766C>G (p.Ser589Cys) rs927310199
NM_015631.6(TCTN3):c.1772T>C (p.Ile591Thr)
NM_015631.6(TCTN3):c.1774C>T (p.Leu592Phe)
NM_015631.6(TCTN3):c.1796T>G (p.Leu599Arg) rs1291662541
NM_015631.6(TCTN3):c.17T>C (p.Leu6Pro)
NM_015631.6(TCTN3):c.1816A>G (p.Thr606Ala)
NM_015631.6(TCTN3):c.1819_1820del (p.Met607fs)
NM_015631.6(TCTN3):c.191C>T (p.Pro64Leu)
NM_015631.6(TCTN3):c.194C>T (p.Thr65Ile) rs2097955954
NM_015631.6(TCTN3):c.245A>T (p.Asp82Val) rs2139768503
NM_015631.6(TCTN3):c.256G>T (p.Val86Phe)
NM_015631.6(TCTN3):c.265A>T (p.Ile89Phe)
NM_015631.6(TCTN3):c.295T>C (p.Cys99Arg)
NM_015631.6(TCTN3):c.301A>T (p.Ile101Leu) rs2139767336
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr) rs2139767280
NM_015631.6(TCTN3):c.323A>G (p.Asp108Gly)
NM_015631.6(TCTN3):c.361T>G (p.Cys121Gly) rs2139767099
NM_015631.6(TCTN3):c.362G>C (p.Cys121Ser) rs1165732615
NM_015631.6(TCTN3):c.367C>A (p.Pro123Thr)
NM_015631.6(TCTN3):c.368C>G (p.Pro123Arg) rs1005806916
NM_015631.6(TCTN3):c.390C>G (p.Ser130Arg) rs533262975
NM_015631.6(TCTN3):c.393G>C (p.Trp131Cys)
NM_015631.6(TCTN3):c.412G>A (p.Val138Ile)
NM_015631.6(TCTN3):c.434C>T (p.Pro145Leu) rs1489817091
NM_015631.6(TCTN3):c.455T>C (p.Met152Thr) rs2139764940
NM_015631.6(TCTN3):c.476A>G (p.Gln159Arg)
NM_015631.6(TCTN3):c.48C>A (p.Phe16Leu)
NM_015631.6(TCTN3):c.491T>C (p.Val164Ala) rs1314557393
NM_015631.6(TCTN3):c.510C>G (p.Asn170Lys)
NM_015631.6(TCTN3):c.52G>A (p.Asp18Asn) rs2139769650
NM_015631.6(TCTN3):c.536A>G (p.Asn179Ser)
NM_015631.6(TCTN3):c.554C>T (p.Ala185Val) rs888815068
NM_015631.6(TCTN3):c.56G>A (p.Gly19Asp)
NM_015631.6(TCTN3):c.570T>G (p.Phe190Leu)
NM_015631.6(TCTN3):c.593C>T (p.Thr198Ile)
NM_015631.6(TCTN3):c.614C>T (p.Pro205Leu) rs2139750466
NM_015631.6(TCTN3):c.61C>T (p.Arg21Trp)
NM_015631.6(TCTN3):c.627+6C>G
NM_015631.6(TCTN3):c.62G>T (p.Arg21Leu) rs1406986953
NM_015631.6(TCTN3):c.670A>G (p.Ile224Val)
NM_015631.6(TCTN3):c.707G>A (p.Gly236Glu)
NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser) rs1555270274
NM_015631.6(TCTN3):c.735A>G (p.Ala245=) rs2097949239
NM_015631.6(TCTN3):c.755G>A (p.Ser252Asn)
NM_015631.6(TCTN3):c.760A>G (p.Thr254Ala)
NM_015631.6(TCTN3):c.769C>A (p.Arg257Ser) rs780304630
NM_015631.6(TCTN3):c.780G>C (p.Lys260Asn)
NM_015631.6(TCTN3):c.82C>G (p.Pro28Ala)
NM_015631.6(TCTN3):c.850A>G (p.Lys284Glu) rs2139748562
NM_015631.6(TCTN3):c.852+4G>A rs2139748541
NM_015631.6(TCTN3):c.853-11T>C
NM_015631.6(TCTN3):c.853G>A (p.Val285Ile)
NM_015631.6(TCTN3):c.867G>A (p.Met289Ile)
NM_015631.6(TCTN3):c.873T>A (p.Asp291Glu) rs2139747266
NM_015631.6(TCTN3):c.877C>A (p.Gln293Lys)
NM_015631.6(TCTN3):c.888+3A>T
NM_015631.6(TCTN3):c.907C>T (p.Leu303Phe)
NM_015631.6(TCTN3):c.911C>T (p.Thr304Ile) rs1024201294
NM_015631.6(TCTN3):c.92C>A (p.Ala31Glu)
NM_015631.6(TCTN3):c.936G>A (p.Leu312=)
NM_015631.6(TCTN3):c.958G>T (p.Val320Leu)
NM_015631.6(TCTN3):c.965C>G (p.Ser322Cys)
NM_015631.6(TCTN3):c.979G>A (p.Glu327Lys) rs745387147
NM_015631.6(TCTN3):c.982A>T (p.Ile328Leu) rs1267152740
NM_015631.6(TCTN3):c.994G>A (p.Gly332Arg)
NM_015631.6(TCTN3):c.995G>C (p.Gly332Ala)
NM_015662.3(IFT172):c.100T>G (p.Cys34Gly)
NM_015662.3(IFT172):c.1039G>A (p.Val347Met) rs773726175
NM_015662.3(IFT172):c.1039G>C (p.Val347Leu)
NM_015662.3(IFT172):c.1092A>T (p.Gly364=)
NM_015662.3(IFT172):c.1097A>C (p.Glu366Ala) rs1668096577
NM_015662.3(IFT172):c.1099C>A (p.Arg367Ser)
NM_015662.3(IFT172):c.112C>G (p.Arg38Gly)
NM_015662.3(IFT172):c.113G>A (p.Arg38Gln) rs552861632
NM_015662.3(IFT172):c.1156C>T (p.Arg386Trp) rs1668091920
NM_015662.3(IFT172):c.1162A>G (p.Ser388Gly) rs1668091082
NM_015662.3(IFT172):c.1167+3A>G rs2148543961
NM_015662.3(IFT172):c.1167+5G>T rs2148543947
NM_015662.3(IFT172):c.1171G>C (p.Ala391Pro)
NM_015662.3(IFT172):c.1198_1200del (p.Lys400del) rs2148542998
NM_015662.3(IFT172):c.1225T>C (p.Cys409Arg)
NM_015662.3(IFT172):c.124C>A (p.Leu42Met)
NM_015662.3(IFT172):c.1273A>G (p.Asn425Asp) rs145145347
NM_015662.3(IFT172):c.1310_1311insAAA (p.Met436_Asn437insLys)
NM_015662.3(IFT172):c.1325+6C>T rs753078264
NM_015662.3(IFT172):c.1330C>T (p.Arg444Cys) rs1038040281
NM_015662.3(IFT172):c.1340A>G (p.Glu447Gly)
NM_015662.3(IFT172):c.137A>T (p.His46Leu)
NM_015662.3(IFT172):c.1388T>C (p.Ile463Thr)
NM_015662.3(IFT172):c.1393A>G (p.Ile465Val) rs1667974652
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)
NM_015662.3(IFT172):c.1514G>A (p.Arg505Gln)
NM_015662.3(IFT172):c.1525-20C>G
NM_015662.3(IFT172):c.153T>G (p.Asp51Glu) rs537341371
NM_015662.3(IFT172):c.1544A>G (p.Glu515Gly)
NM_015662.3(IFT172):c.1559C>A (p.Thr520Lys)
NM_015662.3(IFT172):c.1559C>G (p.Thr520Arg)
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
NM_024790.6(CSPP1):c.-14_1del (p.Met1del)
NM_024809.5(TCTN2):c.100A>C (p.Ile34Leu)
NM_024809.5(TCTN2):c.1043C>T (p.Thr348Ile)
NM_024809.5(TCTN2):c.1045C>G (p.Pro349Ala) rs2135843071
NM_024809.5(TCTN2):c.1060G>C (p.Glu354Gln) rs953263200
NM_024809.5(TCTN2):c.1072G>A (p.Asp358Asn)
NM_024809.5(TCTN2):c.1074C>G (p.Asp358Glu)
NM_024809.5(TCTN2):c.1088T>C (p.Ile363Thr)
NM_024809.5(TCTN2):c.1099+19_1099+20inv
NM_024809.5(TCTN2):c.1099+6del rs2135843158
NM_024809.5(TCTN2):c.1123A>G (p.Thr375Ala) rs1256664879
NM_024809.5(TCTN2):c.112G>T (p.Gly38Cys) rs1955751143
NM_024809.5(TCTN2):c.1135G>T (p.Val379Leu)
NM_024809.5(TCTN2):c.1154A>G (p.Tyr385Cys)
NM_024809.5(TCTN2):c.1165T>C (p.Trp389Arg) rs200080239
NM_024809.5(TCTN2):c.1165T>G (p.Trp389Gly)
NM_024809.5(TCTN2):c.1173_1178del (p.Asn392_Thr393del)
NM_024809.5(TCTN2):c.1190T>A (p.Ile397Lys)
NM_024809.5(TCTN2):c.1208G>A (p.Arg403Lys)
NM_024809.5(TCTN2):c.1264T>A (p.Phe422Ile)
NM_024809.5(TCTN2):c.1286A>T (p.Asn429Ile)
NM_024809.5(TCTN2):c.1288GAA[2] (p.Glu432del)
NM_024809.5(TCTN2):c.1303G>A (p.Gly435Arg)
NM_024809.5(TCTN2):c.1312+3A>G rs1381902683
NM_024809.5(TCTN2):c.1366G>A (p.Val456Ile)
NM_024809.5(TCTN2):c.1377A>C (p.Leu459Phe)
NM_024809.5(TCTN2):c.1379A>C (p.His460Pro)
NM_024809.5(TCTN2):c.1391C>T (p.Ser464Leu) rs991572501
NM_024809.5(TCTN2):c.1394-10_1394-5del rs754718630
NM_024809.5(TCTN2):c.1403G>T (p.Gly468Val) rs1345786491
NM_024809.5(TCTN2):c.1411A>C (p.Thr471Pro) rs2135849648
NM_024809.5(TCTN2):c.1432A>G (p.Ile478Val)
NM_024809.5(TCTN2):c.1447A>C (p.Asn483His)
NM_024809.5(TCTN2):c.148G>A (p.Glu50Lys) rs959524376
NM_024809.5(TCTN2):c.1499A>G (p.Gln500Arg) rs866607617
NM_024809.5(TCTN2):c.1505+3G>A
NM_024809.5(TCTN2):c.1509G>T (p.Glu503Asp)
NM_024809.5(TCTN2):c.1528G>C (p.Asp510His)
NM_024809.5(TCTN2):c.1538T>C (p.Ile513Thr)
NM_024809.5(TCTN2):c.1576T>G (p.Tyr526Asp) rs2135852961
NM_024809.5(TCTN2):c.1579G>A (p.Ala527Thr) rs760206821
NM_024809.5(TCTN2):c.1579G>T (p.Ala527Ser) rs760206821
NM_024809.5(TCTN2):c.1655G>A (p.Ser552Asn)
NM_024809.5(TCTN2):c.1685C>T (p.Ala562Val) rs2135859426
NM_024809.5(TCTN2):c.1687C>T (p.His563Tyr)
NM_024809.5(TCTN2):c.1704C>G (p.Ile568Met)
NM_024809.5(TCTN2):c.1705C>G (p.Leu569Val)
NM_024809.5(TCTN2):c.170C>T (p.Ala57Val)
NM_024809.5(TCTN2):c.1726G>C (p.Val576Leu)
NM_024809.5(TCTN2):c.1781T>C (p.Val594Ala)
NM_024809.5(TCTN2):c.1791G>T (p.Gln597His)
NM_024809.5(TCTN2):c.1810T>C (p.Cys604Arg)
NM_024809.5(TCTN2):c.1812T>G (p.Cys604Trp) rs1593871306
NM_024809.5(TCTN2):c.1847C>A (p.Ser616Tyr) rs1436566157
NM_024809.5(TCTN2):c.1882C>T (p.His628Tyr) rs2135862503
NM_024809.5(TCTN2):c.188C>G (p.Ala63Gly)
NM_024809.5(TCTN2):c.1892C>T (p.Thr631Ile)
NM_024809.5(TCTN2):c.1896-16_1896-15insACTTGTAGTTTTTG
NM_024809.5(TCTN2):c.1904T>G (p.Ile635Ser) rs2135862767
NM_024809.5(TCTN2):c.1910A>T (p.Tyr637Phe)
NM_024809.5(TCTN2):c.1928A>G (p.Asn643Ser)
NM_024809.5(TCTN2):c.1943_1944del (p.Cys648fs) rs2135862848
NM_024809.5(TCTN2):c.1948C>T (p.Pro650Ser)
NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu) rs1393954437
NM_024809.5(TCTN2):c.1958T>C (p.Leu653Pro)
NM_024809.5(TCTN2):c.1958_1963del (p.Leu653_Tyr654del) rs377628976
NM_024809.5(TCTN2):c.1987G>C (p.Glu663Gln) rs756940400
NM_024809.5(TCTN2):c.2001G>C (p.Gln667His)
NM_024809.5(TCTN2):c.2005G>A (p.Val669Ile) rs768699111
NM_024809.5(TCTN2):c.200C>G (p.Pro67Arg)
NM_024809.5(TCTN2):c.200C>T (p.Pro67Leu) rs772417842
NM_024809.5(TCTN2):c.2029T>G (p.Leu677Val)
NM_024809.5(TCTN2):c.2047T>G (p.Leu683Val)
NM_024809.5(TCTN2):c.2049G>T (p.Leu683Phe) rs975324103
NM_024809.5(TCTN2):c.206C>T (p.Pro69Leu)
NM_024809.5(TCTN2):c.217G>C (p.Val73Leu) rs1955760079
NM_024809.5(TCTN2):c.225_226delinsTC (p.Asn76His)
NM_024809.5(TCTN2):c.22G>A (p.Ala8Thr)
NM_024809.5(TCTN2):c.233C>G (p.Thr78Arg) rs1015790415
NM_024809.5(TCTN2):c.235G>A (p.Glu79Lys)
NM_024809.5(TCTN2):c.239A>C (p.Asp80Ala)
NM_024809.5(TCTN2):c.25C>T (p.Leu9Phe)
NM_024809.5(TCTN2):c.267G>T (p.Ala89=)
NM_024809.5(TCTN2):c.269A>G (p.Lys90Arg) rs879080073
NM_024809.5(TCTN2):c.275_276insCAC (p.Leu92delinsPheThr)
NM_024809.5(TCTN2):c.317C>G (p.Ser106Cys)
NM_024809.5(TCTN2):c.347C>A (p.Ser116Tyr)
NM_024809.5(TCTN2):c.350C>T (p.Pro117Leu)
NM_024809.5(TCTN2):c.352T>G (p.Cys118Gly) rs2135816491
NM_024809.5(TCTN2):c.374T>G (p.Val125Gly)
NM_024809.5(TCTN2):c.458C>T (p.Ala153Val)
NM_024809.5(TCTN2):c.464-8C>G
NM_024809.5(TCTN2):c.481C>T (p.Pro161Ser)
NM_024809.5(TCTN2):c.485A>G (p.Asn162Ser)
NM_024809.5(TCTN2):c.512G>A (p.Cys171Tyr) rs1247122928
NM_024809.5(TCTN2):c.521A>G (p.Asn174Ser)
NM_024809.5(TCTN2):c.526A>G (p.Thr176Ala)
NM_024809.5(TCTN2):c.529G>A (p.Ala177Thr)
NM_024809.5(TCTN2):c.545T>C (p.Val182Ala)
NM_024809.5(TCTN2):c.547C>T (p.Arg183Cys) rs774520912
NM_024809.5(TCTN2):c.577A>G (p.Asn193Asp)
NM_024809.5(TCTN2):c.580T>G (p.Leu194Val)
NM_024809.5(TCTN2):c.587C>T (p.Thr196Met)
NM_024809.5(TCTN2):c.590T>C (p.Leu197Pro)
NM_024809.5(TCTN2):c.649C>G (p.Gln217Glu)
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) rs376996387
NM_024809.5(TCTN2):c.673A>T (p.Thr225Ser)
NM_024809.5(TCTN2):c.697C>T (p.Pro233Ser) rs1156772105
NM_024809.5(TCTN2):c.716C>A (p.Ser239Tyr)
NM_024809.5(TCTN2):c.716C>G (p.Ser239Cys) rs149186771
NM_024809.5(TCTN2):c.716C>T (p.Ser239Phe)
NM_024809.5(TCTN2):c.738C>G (p.Phe246Leu)
NM_024809.5(TCTN2):c.758G>T (p.Gly253Val) rs1955979058
NM_024809.5(TCTN2):c.761C>T (p.Ala254Val)
NM_024809.5(TCTN2):c.764+9C>G rs1955979503
NM_024809.5(TCTN2):c.765-11T>C
NM_024809.5(TCTN2):c.797A>T (p.Tyr266Phe)
NM_024809.5(TCTN2):c.7T>C (p.Phe3Leu)
NM_024809.5(TCTN2):c.802G>T (p.Asp268Tyr)
NM_024809.5(TCTN2):c.806C>G (p.Thr269Ser)
NM_024809.5(TCTN2):c.811G>A (p.Ala271Thr)
NM_024809.5(TCTN2):c.830T>C (p.Phe277Ser) rs1566252816
NM_024809.5(TCTN2):c.848A>T (p.Asp283Val) rs2135836324
NM_024809.5(TCTN2):c.858G>T (p.Met286Ile) rs371804063
NM_024809.5(TCTN2):c.877T>A (p.Phe293Ile) rs201322440
NM_024809.5(TCTN2):c.891+5T>G rs2135836443
NM_024809.5(TCTN2):c.891+6C>T
NM_024809.5(TCTN2):c.892G>A (p.Val298Met)
NM_024809.5(TCTN2):c.902C>T (p.Ala301Val)
NM_024809.5(TCTN2):c.922G>A (p.Ala308Thr)
NM_024809.5(TCTN2):c.92C>G (p.Pro31Arg) rs1009530513
NM_024809.5(TCTN2):c.92C>T (p.Pro31Leu) rs1009530513
NM_024809.5(TCTN2):c.94C>T (p.Pro32Ser) rs2135813593
NM_024809.5(TCTN2):c.961G>A (p.Val321Ile)
NM_024809.5(TCTN2):c.965C>T (p.Thr322Ile) rs2135839958
NM_024809.5(TCTN2):c.97T>C (p.Phe33Leu)
NM_025114.3(CEP290):c.6819-?_*171+?dup
NM_025114.4(CEP290):c.1004G>A (p.Arg335Lys)
NM_025114.4(CEP290):c.100A>C (p.Lys34Gln)
NM_025114.4(CEP290):c.1025A>G (p.Gln342Arg) rs2138022289
NM_025114.4(CEP290):c.1052T>C (p.Met351Thr) rs1415965131
NM_025114.4(CEP290):c.1054G>T (p.Ala352Ser)
NM_025114.4(CEP290):c.1067G>A (p.Gly356Asp) rs1403887401
NM_025114.4(CEP290):c.1069A>C (p.Ile357Leu) rs2138003595
NM_025114.4(CEP290):c.1069A>G (p.Ile357Val)
NM_025114.4(CEP290):c.1082A>G (p.Asp361Gly)
NM_025114.4(CEP290):c.1083C>A (p.Asp361Glu)
NM_025114.4(CEP290):c.1103C>T (p.Thr368Ile)
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)
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)
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)
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)
NM_025132.4(WDR19):c.2483G>A (p.Arg828His)
NM_025132.4(WDR19):c.2483G>C (p.Arg828Pro)
NM_025132.4(WDR19):c.2485C>G (p.Arg829Gly)
NM_025132.4(WDR19):c.2486G>A (p.Arg829Gln)
NM_025132.4(WDR19):c.2503C>G (p.Leu835Val)
NM_025132.4(WDR19):c.2551G>A (p.Glu851Lys)
NM_025132.4(WDR19):c.2562+19_2562+28del
NM_025132.4(WDR19):c.2562+5T>C
NM_025132.4(WDR19):c.2563-3T>C
NM_025132.4(WDR19):c.2563-6T>C rs1213227553
NM_025132.4(WDR19):c.2591A>G (p.Glu864Gly)
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)
NM_025132.4(WDR19):c.2635T>C (p.Ser879Pro) rs2109406888
NM_025132.4(WDR19):c.2646-16G>A
NM_025132.4(WDR19):c.2646-9C>T
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)
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
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)
NM_025132.4(WDR19):c.292G>T (p.Asp98Tyr) rs1317389016
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
NM_031924.8(RSPH3):c.493-8T>A
NM_031924.8(RSPH3):c.529G>A (p.Glu177Lys)
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)
NM_031924.8(RSPH3):c.644G>A (p.Arg215His)
NM_031924.8(RSPH3):c.732C>A (p.His244Gln)
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)
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)
NM_031924.8(RSPH3):c.986A>G (p.Tyr329Cys)
NM_033028.5(BBS4):c.*1_*2delGA
NM_033028.5(BBS4):c.*1_*3delGAA
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)
NM_033028.5(BBS4):c.1039G>A (p.Ala347Thr)
NM_033028.5(BBS4):c.1063G>C (p.Glu355Gln) rs1478448702
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)
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)
NM_033028.5(BBS4):c.1161GAA[2] (p.Lys389del) rs759315856
NM_033028.5(BBS4):c.1166A>G (p.Lys389Arg)
NM_033028.5(BBS4):c.116T>C (p.Ile39Thr)
NM_033028.5(BBS4):c.1183T>C (p.Tyr395His)
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)
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
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)
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)
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

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