ClinVar Miner

List of variants reported as uncertain significance for Jeune thoracic dystrophy by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 662
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys) rs374073337 0.00053
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) rs180861816 0.00052
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val) rs142518115 0.00051
NM_001377.3(DYNC2H1):c.9158G>A (p.Arg3053Gln) rs183985095 0.00043
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) rs150370681 0.00039
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_001377.3(DYNC2H1):c.913G>A (p.Val305Met) rs201188696 0.00020
NM_001377.3(DYNC2H1):c.1384C>T (p.Arg462Trp) rs768459821 0.00019
NM_020800.3(IFT80):c.1826G>A (p.Arg609His) rs540494495 0.00019
NM_020800.3(IFT80):c.634T>C (p.Tyr212His) rs756009771 0.00016
NM_020800.3(IFT80):c.758G>A (p.Arg253His) rs144738877 0.00015
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_020800.3(IFT80):c.655G>A (p.Gly219Ser) rs201365447 0.00014
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429 0.00014
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_001377.3(DYNC2H1):c.12268G>A (p.Val4090Ile) rs376545196 0.00012
NM_001377.3(DYNC2H1):c.6697T>C (p.Ser2233Pro) rs375988913 0.00012
NM_001377.3(DYNC2H1):c.10025G>A (p.Arg3342Gln) rs755136217 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_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_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_020800.3(IFT80):c.1052C>T (p.Thr351Met) rs199778285 0.00009
NM_020800.3(IFT80):c.707C>T (p.Ala236Val) rs774857269 0.00009
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_020800.3(IFT80):c.192G>T (p.Trp64Cys) rs151263345 0.00008
NM_020800.3(IFT80):c.691C>T (p.Pro231Ser) rs149447674 0.00008
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_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_020800.3(IFT80):c.1205G>A (p.Arg402His) rs147955112 0.00006
NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser) rs373671362 0.00006
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_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_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_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_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_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_001080463.2(DYNC2H1):c.9824T>C (p.Ile3275Thr) rs377493103 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_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_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_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
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_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
NM_001080463.2(DYNC2H1):c.9820A>T (p.Ile3274Phe)
NM_001080463.2(DYNC2H1):c.9838T>C (p.Trp3280Arg) rs2135218261
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_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

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