ClinVar Miner

List of variants studied for cranioectodermal dysplasia by Invitae

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 855
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HGVS dbSNP gnomAD frequency
NM_020779.4(WDR35):c.2824-14G>T rs1191779 0.96807
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) rs6741091 0.45165
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
NM_052989.3(IFT122):c.740+15G>A rs56379561 0.13063
NM_052989.3(IFT122):c.1654-12C>T rs112066509 0.12634
NM_020779.4(WDR35):c.3121+12A>C rs28502265 0.10214
NM_052989.3(IFT122):c.1147+19C>T rs2301570 0.10129
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07498
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) rs34169020 0.03645
NM_052989.3(IFT122):c.109-15T>C rs114298924 0.02307
NM_052989.3(IFT122):c.3265+7C>T rs9836202 0.01370
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys) rs56395266 0.01130
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_052989.3(IFT122):c.1854C>T (p.Ser618=) rs146874343 0.00981
NM_052989.3(IFT122):c.2682G>A (p.Ala894=) rs61741773 0.00905
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) rs61744218 0.00860
NM_020779.4(WDR35):c.1089G>A (p.Thr363=) rs79829477 0.00817
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=) rs111668739 0.00548
NM_052989.3(IFT122):c.1239G>A (p.Glu413=) rs111717774 0.00480
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 0.00451
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_052989.3(IFT122):c.1993-8C>T rs531091599 0.00439
NM_052989.3(IFT122):c.1113C>T (p.Asp371=) rs139319087 0.00429
NM_020779.4(WDR35):c.2414+20C>T rs116756504 0.00361
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 0.00299
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_020779.4(WDR35):c.318T>C (p.Ile106=) rs115963122 0.00263
NM_020779.4(WDR35):c.2964+12C>T rs113663112 0.00252
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 0.00221
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277 0.00212
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_020779.4(WDR35):c.3121+3G>A rs200042577 0.00199
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250 0.00188
NM_052989.3(IFT122):c.273-331C>A rs116196975 0.00187
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr) rs59912693 0.00184
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618 0.00168
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608 0.00161
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=) rs150692598 0.00125
NM_020779.4(WDR35):c.1755C>T (p.Val585=) rs146130105 0.00124
NM_052989.3(IFT122):c.3244A>G (p.Ile1082Val) rs143490747 0.00120
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
NM_020779.4(WDR35):c.1471-7A>G rs376388391 0.00098
NM_020779.4(WDR35):c.437-13T>C rs367802842 0.00098
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg) rs138007924 0.00097
NM_020779.4(WDR35):c.142+10T>C rs186647997 0.00096
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_052989.3(IFT122):c.825G>T (p.Lys275Asn) rs117517364 0.00095
NM_020779.4(WDR35):c.507A>G (p.Lys169=) rs200495720 0.00094
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser) rs151047156 0.00093
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp) rs146818399 0.00088
NM_052989.3(IFT122):c.41+15G>T rs36222038 0.00084
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala) rs144140226 0.00077
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669 0.00075
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg) rs147325795 0.00072
NM_020779.4(WDR35):c.1401-15T>G rs201903683 0.00068
NM_020779.4(WDR35):c.1227A>G (p.Thr409=) rs148828104 0.00059
NM_052989.3(IFT122):c.3392-20C>T rs200747264 0.00058
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile) rs200606803 0.00057
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile) rs151227688 0.00051
NM_052989.3(IFT122):c.3638T>C (p.Met1213Thr) rs140623081 0.00050
NM_052989.3(IFT122):c.986C>T (p.Ala329Val) rs200915373 0.00049
NM_020779.4(WDR35):c.2936G>A (p.Arg979Gln) rs138076014 0.00047
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala) rs140753861 0.00045
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg) rs201153804 0.00045
NM_052989.3(IFT122):c.2908C>T (p.Arg970Cys) rs145470016 0.00044
NM_052989.3(IFT122):c.3266-19C>T rs201753855 0.00040
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys) rs149578956 0.00039
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp) rs61744448 0.00038
NM_052989.3(IFT122):c.416+18G>A rs147288978 0.00037
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn) rs148626512 0.00036
NM_052989.3(IFT122):c.2625C>T (p.Asn875=) rs76572254 0.00036
NM_052989.3(IFT122):c.1310A>G (p.Asn437Ser) rs142655964 0.00035
NM_052989.3(IFT122):c.1553G>A (p.Arg518His) rs138223055 0.00034
NM_052989.3(IFT122):c.2643C>T (p.Ala881=) rs150055466 0.00032
NM_020779.4(WDR35):c.2965-4G>T rs199696980 0.00031
NM_020779.4(WDR35):c.2964+10C>A rs201207790 0.00030
NM_020779.4(WDR35):c.681T>C (p.Leu227=) rs143901897 0.00030
NM_052989.3(IFT122):c.417-16T>C rs192128912 0.00029
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met) rs143430766 0.00027
NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter) rs367810877 0.00024
NM_052989.3(IFT122):c.3533G>A (p.Arg1178His) rs149029829 0.00024
NM_020779.4(WDR35):c.2458C>T (p.Arg820Cys) rs141190788 0.00023
NM_052989.3(IFT122):c.1380C>T (p.Ser460=) rs142641511 0.00021
NM_052989.3(IFT122):c.1525G>A (p.Val509Ile) rs368750069 0.00021
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690 0.00021
NM_052989.3(IFT122):c.531G>A (p.Ser177=) rs150496357 0.00021
NM_052989.3(IFT122):c.2420C>T (p.Pro807Leu) rs193183329 0.00020
NM_052989.3(IFT122):c.2424G>C (p.Leu808=) rs148188237 0.00020
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 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_052989.3(IFT122):c.2760G>A (p.Met920Ile) rs374188891 0.00019
NM_052989.3(IFT122):c.478A>G (p.Asn160Asp) rs199886551 0.00019
NM_020779.4(WDR35):c.1330C>T (p.Arg444Cys) rs148510977 0.00018
NM_001006657.2(WDR35):c.1203C>T (p.Asn401=) rs142103808 0.00017
NM_052989.3(IFT122):c.2599C>A (p.Pro867Thr) rs144831946 0.00017
NM_020779.4(WDR35):c.2254G>A (p.Glu752Lys) rs756006241 0.00016
NM_052989.3(IFT122):c.1009-14C>T rs202155515 0.00016
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val) rs370951527 0.00015
NM_052989.3(IFT122):c.1821C>A (p.Val607=) rs141632773 0.00015
NM_052989.3(IFT122):c.2458A>G (p.Ser820Gly) rs755556032 0.00015
NM_052989.3(IFT122):c.3027C>T (p.Leu1009=) rs373152133 0.00015
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=) rs182360785 0.00014
NM_052989.3(IFT122):c.1139A>G (p.Glu380Gly) rs755060067 0.00014
NM_052989.3(IFT122):c.1430A>G (p.Lys477Arg) rs141539693 0.00014
NM_052989.3(IFT122):c.2577G>A (p.Glu859=) rs201077232 0.00014
NM_052989.3(IFT122):c.2715C>T (p.Ala905=) rs143748879 0.00014
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337 0.00013
NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly) rs369515554 0.00013
NM_020779.4(WDR35):c.765C>T (p.Tyr255=) rs117255034 0.00013
NM_052989.3(IFT122):c.1383A>G (p.Gly461=) rs147887396 0.00013
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 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_052989.3(IFT122):c.2987+15A>G rs373111458 0.00011
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val) rs147341636 0.00011
NM_052989.3(IFT122):c.416+12T>C rs141969308 0.00011
NM_020779.4(WDR35):c.2835A>G (p.Glu945=) rs182928585 0.00010
NM_052989.3(IFT122):c.229G>A (p.Val77Ile) rs369525803 0.00010
NM_020779.4(WDR35):c.1861T>C (p.Ser621Pro) rs199882056 0.00009
NM_020779.4(WDR35):c.725A>G (p.Glu242Gly) rs139543775 0.00009
NM_052989.3(IFT122):c.2992A>G (p.Ile998Val) rs115715082 0.00009
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=) rs146778076 0.00009
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His) rs201755623 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_020779.4(WDR35):c.2109T>G (p.Thr703=) rs201822027 0.00008
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys) rs201860485 0.00008
NM_020779.4(WDR35):c.867C>T (p.Tyr289=) rs185888517 0.00008
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu) rs147499719 0.00008
NM_052989.3(IFT122):c.2721G>A (p.Ala907=) rs371570973 0.00008
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln) rs376018883 0.00008
NM_020779.4(WDR35):c.2230G>A (p.Glu744Lys) rs1420842472 0.00007
NM_020779.4(WDR35):c.2847A>G (p.Lys949=) rs373983961 0.00007
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu) rs774768083 0.00007
NM_052989.3(IFT122):c.1489-16G>A rs576753615 0.00007
NM_052989.3(IFT122):c.2215C>T (p.Leu739Phe) rs763332787 0.00007
NM_052989.3(IFT122):c.2375+13C>T rs749785449 0.00007
NM_052989.3(IFT122):c.272+1G>A rs372483083 0.00007
NM_020779.4(WDR35):c.1098T>C (p.Asn366=) rs780105362 0.00006
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln) rs146380332 0.00006
NM_020779.4(WDR35):c.2573T>C (p.Val858Ala) rs759587265 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.657C>T (p.Tyr219=) rs768183424 0.00006
NM_020779.4(WDR35):c.817T>G (p.Phe273Val) rs370377789 0.00006
NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp) rs139079256 0.00006
NM_052989.3(IFT122):c.1758C>G (p.His586Gln) rs141889207 0.00006
NM_052989.3(IFT122):c.1760G>A (p.Arg587Gln) rs146270512 0.00006
NM_052989.3(IFT122):c.1940G>A (p.Arg647His) rs750301228 0.00006
NM_052989.3(IFT122):c.1992+7A>G rs757823317 0.00006
NM_052989.3(IFT122):c.273-268A>T rs376246143 0.00006
NM_052989.3(IFT122):c.3127C>A (p.Arg1043Ser) rs555281580 0.00006
NM_052989.3(IFT122):c.3128G>A (p.Arg1043His) rs576743578 0.00006
NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys) rs771499492 0.00006
NM_052989.3(IFT122):c.3603C>T (p.Asp1201=) rs369729210 0.00006
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp) rs140547512 0.00006
NM_052989.3(IFT122):c.93C>T (p.Ala31=) rs374303835 0.00006
NM_020779.4(WDR35):c.215-4C>G rs369080910 0.00005
NM_020779.4(WDR35):c.2415-2A>G rs143550695 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_020779.4(WDR35):c.2659-19G>A rs749563049 0.00005
NM_020779.4(WDR35):c.994C>T (p.Arg332Ter) rs199840434 0.00005
NM_052989.3(IFT122):c.228C>T (p.Ser76=) rs772835552 0.00005
NM_052989.3(IFT122):c.3217G>A (p.Val1073Ile) rs138028750 0.00005
NM_052989.3(IFT122):c.3309T>G (p.Thr1103=) rs749601918 0.00005
NM_052989.3(IFT122):c.3594G>T (p.Leu1198=) rs775936679 0.00005
NM_052989.3(IFT122):c.876C>T (p.Gly292=) rs768782991 0.00005
NM_052989.3(IFT122):c.937C>T (p.Arg313Trp) rs755493101 0.00005
NM_001006657.2(WDR35):c.1204G>A (p.Glu402Lys) rs553534590 0.00004
NM_020779.4(WDR35):c.1029T>C (p.Thr343=) rs536150588 0.00004
NM_020779.4(WDR35):c.1053T>C (p.Pro351=) rs74385826 0.00004
NM_020779.4(WDR35):c.1255+1G>A rs371669862 0.00004
NM_020779.4(WDR35):c.143-4T>C rs1180620404 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.2592A>G (p.Ala864=) rs750654551 0.00004
NM_020779.4(WDR35):c.2877C>G (p.Leu959=) rs139447814 0.00004
NM_020779.4(WDR35):c.2891C>G (p.Ala964Gly) rs1281384371 0.00004
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His) rs200760434 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_020779.4(WDR35):c.798C>T (p.Ser266=) rs141118263 0.00004
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu) rs781181264 0.00004
NM_052989.3(IFT122):c.2383G>A (p.Asp795Asn) rs76007598 0.00004
NM_052989.3(IFT122):c.2650+12A>G rs777744869 0.00004
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val) rs376549217 0.00004
NM_052989.3(IFT122):c.273-346C>T rs778846137 0.00004
NM_052989.3(IFT122):c.2895G>A (p.Pro965=) rs771092154 0.00004
NM_052989.3(IFT122):c.2904C>T (p.Val968=) rs140575442 0.00004
NM_052989.3(IFT122):c.2988-6C>T rs749670705 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys) rs553449191 0.00004
NM_052989.3(IFT122):c.3073C>G (p.Leu1025Val) rs778888913 0.00004
NM_052989.3(IFT122):c.3267C>T (p.Asp1089=) rs759436069 0.00004
NM_052989.3(IFT122):c.3333C>T (p.Ile1111=) rs991750889 0.00004
NM_052989.3(IFT122):c.3343G>T (p.Val1115Leu) rs557159295 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_052989.3(IFT122):c.524C>T (p.Ser175Phe) rs777645844 0.00004
NM_052989.3(IFT122):c.563+7T>C rs371311619 0.00004
NM_052989.3(IFT122):c.849C>T (p.Pro283=) rs771115196 0.00004
NM_001006657.2(WDR35):c.1206G>T (p.Glu402Asp) rs762190195 0.00003
NM_020779.4(WDR35):c.1113A>G (p.Lys371=) rs778831561 0.00003
NM_020779.4(WDR35):c.1260A>G (p.Pro420=) rs573958749 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.2326C>T (p.Leu776=) rs772138388 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.3363-15C>T rs763500770 0.00003
NM_020779.4(WDR35):c.628A>G (p.Ile210Val) rs1413290520 0.00003
NM_052989.3(IFT122):c.1207A>C (p.Ile403Leu) rs149915993 0.00003
NM_052989.3(IFT122):c.1488+10C>T rs766274915 0.00003
NM_052989.3(IFT122):c.1503C>T (p.Phe501=) rs113871672 0.00003
NM_052989.3(IFT122):c.1526T>C (p.Val509Ala) rs191420441 0.00003
NM_052989.3(IFT122):c.1795G>A (p.Gly599Ser) rs758194778 0.00003
NM_052989.3(IFT122):c.2736T>C (p.Asn912=) rs752961918 0.00003
NM_052989.3(IFT122):c.3087C>A (p.Ala1029=) rs777602970 0.00003
NM_052989.3(IFT122):c.3144C>T (p.His1048=) rs777717739 0.00003
NM_052989.3(IFT122):c.3521G>A (p.Arg1174His) rs143602964 0.00003
NM_052989.3(IFT122):c.3554G>A (p.Arg1185Gln) rs754808589 0.00003
NM_052989.3(IFT122):c.3642C>G (p.Phe1214Leu) rs751262275 0.00003
NM_052989.3(IFT122):c.3697C>T (p.Arg1233Cys) rs778449955 0.00003
NM_052989.3(IFT122):c.564-15A>G rs919325670 0.00003
NM_052989.3(IFT122):c.669C>T (p.Tyr223=) rs139008392 0.00003
NM_052989.3(IFT122):c.732C>T (p.Asp244=) rs202074599 0.00003
NM_052989.3(IFT122):c.978G>A (p.Thr326=) rs781409395 0.00003
NM_020779.4(WDR35):c.136C>T (p.Gln46Ter) rs767788330 0.00002
NM_020779.4(WDR35):c.1410T>C (p.His470=) rs1257210913 0.00002
NM_020779.4(WDR35):c.1435A>G (p.Met479Val) rs797046099 0.00002
NM_020779.4(WDR35):c.1694_1695dup (p.Thr566Ter) rs766096320 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.2643C>T (p.Cys881=) rs776211441 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.3189C>T (p.Cys1063=) rs1295936600 0.00002
NM_020779.4(WDR35):c.3254C>A (p.Thr1085Asn) rs190070503 0.00002
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=) rs746128772 0.00002
NM_020779.4(WDR35):c.339A>G (p.Arg113=) rs750227579 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_052989.3(IFT122):c.1148-1G>C rs755005244 0.00002
NM_052989.3(IFT122):c.1506G>C (p.Val502=) rs754396913 0.00002
NM_052989.3(IFT122):c.1577G>A (p.Arg526His) rs754275024 0.00002
NM_052989.3(IFT122):c.2302G>A (p.Val768Met) rs561825107 0.00002
NM_052989.3(IFT122):c.2548-20T>A rs764768307 0.00002
NM_052989.3(IFT122):c.2628T>C (p.Asp876=) rs750912015 0.00002
NM_052989.3(IFT122):c.2652G>A (p.Ala884=) rs201147770 0.00002
NM_052989.3(IFT122):c.2668C>T (p.Arg890Ter) rs1039467525 0.00002
NM_052989.3(IFT122):c.291A>G (p.Gln97=) rs569507011 0.00002
NM_052989.3(IFT122):c.3047G>A (p.Arg1016Gln) rs758998922 0.00002
NM_052989.3(IFT122):c.3053C>G (p.Ala1018Gly) rs767833675 0.00002
NM_052989.3(IFT122):c.3068G>A (p.Arg1023His) rs753932809 0.00002
NM_052989.3(IFT122):c.3228C>T (p.Asn1076=) rs367891133 0.00002
NM_052989.3(IFT122):c.3233G>T (p.Arg1078Leu) rs1269892119 0.00002
NM_052989.3(IFT122):c.3234C>T (p.Arg1078=) rs781733102 0.00002
NM_052989.3(IFT122):c.3504G>C (p.Val1168=) rs368239028 0.00002
NM_052989.3(IFT122):c.3677A>G (p.His1226Arg) rs750154715 0.00002
NM_052989.3(IFT122):c.394A>G (p.Ser132Gly) rs1048830398 0.00002
NM_052989.3(IFT122):c.42-17C>G rs752213678 0.00002
NM_001006657.2(WDR35):c.1217T>C (p.Phe406Ser) rs971237623 0.00001
NM_020779.4(WDR35):c.1009-18T>A rs113816809 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.135G>A (p.Thr45=) rs773319707 0.00001
NM_020779.4(WDR35):c.1374A>G (p.Thr458=) rs778066578 0.00001
NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter) rs767751856 0.00001
NM_020779.4(WDR35):c.1446G>A (p.Val482=) rs569920075 0.00001
NM_020779.4(WDR35):c.1468del (p.Gln490fs) rs886044119 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.1662A>T (p.Gly554=) rs767878828 0.00001
NM_020779.4(WDR35):c.1845+16G>A rs376710057 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.2157T>C (p.Phe719=) rs755951192 0.00001
NM_020779.4(WDR35):c.2220C>T (p.Phe740=) rs535522970 0.00001
NM_020779.4(WDR35):c.2268-11T>G rs745664606 0.00001
NM_020779.4(WDR35):c.24+9C>T rs754703472 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.2691T>C (p.His897=) rs1192258496 0.00001
NM_020779.4(WDR35):c.2739A>G (p.Leu913=) rs774699751 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.3195C>T (p.Cys1065=) rs375805945 0.00001
NM_020779.4(WDR35):c.3207C>T (p.Ala1069=) rs748710979 0.00001
NM_020779.4(WDR35):c.3363-9G>A rs375053867 0.00001
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys) rs978909925 0.00001
NM_020779.4(WDR35):c.378C>T (p.Asp126=) rs770081985 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.666T>A (p.Pro222=) rs987346249 0.00001
NM_020779.4(WDR35):c.722A>G (p.His241Arg) rs138366348 0.00001
NM_020779.4(WDR35):c.761T>C (p.Met254Thr) rs547986777 0.00001
NM_052989.3(IFT122):c.1009G>C (p.Val337Leu) rs769712676 0.00001
NM_052989.3(IFT122):c.1024G>A (p.Asp342Asn) rs768644199 0.00001
NM_052989.3(IFT122):c.1067A>C (p.His356Pro) rs1064796598 0.00001
NM_052989.3(IFT122):c.1147+10A>T rs750848733 0.00001
NM_052989.3(IFT122):c.1170T>G (p.Leu390=) rs1292603855 0.00001
NM_052989.3(IFT122):c.1190A>G (p.Tyr397Cys) rs965712410 0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) rs1335391766 0.00001
NM_052989.3(IFT122):c.1467A>G (p.Leu489=) rs373424989 0.00001
NM_052989.3(IFT122):c.1487A>G (p.Gln496Arg) rs1203426032 0.00001
NM_052989.3(IFT122):c.1590C>T (p.Ala530=) rs755545448 0.00001
NM_052989.3(IFT122):c.1759C>T (p.Arg587Trp) rs774723842 0.00001
NM_052989.3(IFT122):c.1851+5C>T rs375595062 0.00001
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln) rs140911243 0.00001
NM_052989.3(IFT122):c.2223T>C (p.Ser741=) rs764418590 0.00001
NM_052989.3(IFT122):c.227G>A (p.Ser76Asn) rs1012943423 0.00001
NM_052989.3(IFT122):c.2298C>T (p.Ala766=) rs1007388408 0.00001
NM_052989.3(IFT122):c.2299G>A (p.Ala767Thr) rs199856807 0.00001
NM_052989.3(IFT122):c.2403C>T (p.Asp801=) rs779236068 0.00001
NM_052989.3(IFT122):c.2437A>G (p.Thr813Ala) rs565504126 0.00001
NM_052989.3(IFT122):c.2482T>C (p.Tyr828His) rs1298243007 0.00001
NM_052989.3(IFT122):c.2536C>T (p.Arg846Cys) rs750010740 0.00001
NM_052989.3(IFT122):c.273-211dup rs1559868678 0.00001
NM_052989.3(IFT122):c.2730G>A (p.Arg910=) rs765560540 0.00001
NM_052989.3(IFT122):c.2878C>T (p.Arg960Cys) rs765190529 0.00001
NM_052989.3(IFT122):c.2887-3C>T rs773452716 0.00001
NM_052989.3(IFT122):c.2941C>T (p.Leu981=) rs1578129875 0.00001
NM_052989.3(IFT122):c.3114T>G (p.Gly1038=) rs769225639 0.00001
NM_052989.3(IFT122):c.3191A>G (p.Asn1064Ser) rs767491295 0.00001
NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys) rs774343448 0.00001
NM_052989.3(IFT122):c.3327C>A (p.Ser1109=) rs1464353928 0.00001
NM_052989.3(IFT122):c.349+4C>T rs753626217 0.00001
NM_052989.3(IFT122):c.3636+9C>T rs765137728 0.00001
NM_052989.3(IFT122):c.410G>C (p.Cys137Ser) rs1278478989 0.00001
NM_052989.3(IFT122):c.416+17C>T rs773053690 0.00001
NM_052989.3(IFT122):c.444G>A (p.Ala148=) rs772967589 0.00001
NM_052989.3(IFT122):c.645T>C (p.Pro215=) rs146397021 0.00001
NM_052989.3(IFT122):c.748C>T (p.Arg250Cys) rs373212863 0.00001
NM_052989.3(IFT122):c.832G>A (p.Ala278Thr) rs773531126 0.00001
NM_052989.3(IFT122):c.877G>A (p.Glu293Lys) rs775510906 0.00001
NC_000002.11:g.(?_20153575)_(20153759_?)del
NC_000002.11:g.(?_20188906)_(20189063_?)del
NC_000003.11:g.(?_129150344)_(129159234_?)dup
NC_000003.11:g.(?_129150344)_(129252561_?)dup
NC_000003.11:g.(?_129159174)_(129214470_?)del
NM_001006657.2(WDR35):c.1195-2A>T
NM_001006657.2(WDR35):c.1210dup (p.Glu404fs) rs1327489348
NM_001006657.2(WDR35):c.1227G>A (p.Thr409=)
NM_020779.4(WDR35):c.1008+10A>C rs2103448400
NM_020779.4(WDR35):c.1008+13A>G
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.1058G>C (p.Arg353Pro) rs76623454
NM_020779.4(WDR35):c.105T>C (p.Asp35=)
NM_020779.4(WDR35):c.1082G>T (p.Trp361Leu) rs2103444974
NM_020779.4(WDR35):c.1101A>G (p.Glu367=)
NM_020779.4(WDR35):c.1140T>C (p.Thr380=) rs202056608
NM_020779.4(WDR35):c.1194+10T>C rs936831337
NM_020779.4(WDR35):c.1194+11C>T
NM_020779.4(WDR35):c.1194+18T>G
NM_020779.4(WDR35):c.1228C>T (p.Pro410Ser)
NM_020779.4(WDR35):c.1255+1G>C rs371669862
NM_020779.4(WDR35):c.1270G>A (p.Ala424Thr)
NM_020779.4(WDR35):c.1301C>T (p.Ser434Leu) rs368497711
NM_020779.4(WDR35):c.1302G>A (p.Ser434=)
NM_020779.4(WDR35):c.1322G>A (p.Trp441Ter)
NM_020779.4(WDR35):c.1354T>C (p.Leu452=)
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+17A>G
NM_020779.4(WDR35):c.1400+6del
NM_020779.4(WDR35):c.1401-11C>A
NM_020779.4(WDR35):c.1401-11C>G
NM_020779.4(WDR35):c.141A>G (p.Thr47=)
NM_020779.4(WDR35):c.143-7G>A
NM_020779.4(WDR35):c.1471-19A>G rs1671119977
NM_020779.4(WDR35):c.147T>C (p.Asp49=) rs1672416502
NM_020779.4(WDR35):c.1503A>G (p.Ala501=)
NM_020779.4(WDR35):c.1524+11C>T
NM_020779.4(WDR35):c.1525-15A>C rs2103417096
NM_020779.4(WDR35):c.1525-2A>T
NM_020779.4(WDR35):c.1527T>C (p.Gly509=)
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.1554C>G (p.Tyr518Ter)
NM_020779.4(WDR35):c.1570G>A (p.Gly524Ser) rs2103416923
NM_020779.4(WDR35):c.1609C>T (p.Gln537Ter)
NM_020779.4(WDR35):c.1635-19C>T
NM_020779.4(WDR35):c.1654A>C (p.Ile552Leu)
NM_020779.4(WDR35):c.1674C>T (p.Phe558=)
NM_020779.4(WDR35):c.1698G>A (p.Thr566=) rs773559585
NM_020779.4(WDR35):c.171_178del (p.Ser59fs)
NM_020779.4(WDR35):c.1732T>C (p.Leu578=)
NM_020779.4(WDR35):c.1834T>C (p.Leu612=)
NM_020779.4(WDR35):c.1846-11dup rs754138477
NM_020779.4(WDR35):c.1846-30_1848del rs1553317813
NM_020779.4(WDR35):c.1846-5T>C rs2103410724
NM_020779.4(WDR35):c.1846-7T>A rs1479233566
NM_020779.4(WDR35):c.1860C>T (p.Thr620=) rs1572333836
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.1950T>C (p.Asp650=) rs2103406174
NM_020779.4(WDR35):c.1954C>G (p.Leu652Val)
NM_020779.4(WDR35):c.1954_1955insAAAC (p.Leu652fs) rs2103406171
NM_020779.4(WDR35):c.1994C>T (p.Ala665Val)
NM_020779.4(WDR35):c.2013A>C (p.Gly671=) rs2103406014
NM_020779.4(WDR35):c.2029C>G (p.Gln677Glu) rs775076264
NM_020779.4(WDR35):c.2063+7A>T
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.2154G>A (p.Lys718=) rs2103405404
NM_020779.4(WDR35):c.2178A>G (p.Leu726=)
NM_020779.4(WDR35):c.2190A>G (p.Ser730=)
NM_020779.4(WDR35):c.2191A>G (p.Met731Val)
NM_020779.4(WDR35):c.2193G>C (p.Met731Ile)
NM_020779.4(WDR35):c.2202T>C (p.Ala734=)
NM_020779.4(WDR35):c.2213G>T (p.Gly738Val)
NM_020779.4(WDR35):c.2247G>T (p.Thr749=)
NM_020779.4(WDR35):c.2253C>T (p.Leu751=)
NM_020779.4(WDR35):c.2264G>C (p.Arg755Thr)
NM_020779.4(WDR35):c.2267+15C>T rs1374046467
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.2385T>C (p.Ile795=)
NM_020779.4(WDR35):c.24+17dup
NM_020779.4(WDR35):c.2408A>G (p.Gln803Arg) rs2103403345
NM_020779.4(WDR35):c.2430A>G (p.Gln810=)
NM_020779.4(WDR35):c.2446C>A (p.Arg816=) rs374027943
NM_020779.4(WDR35):c.2488G>A (p.Asp830Asn)
NM_020779.4(WDR35):c.25-17T>C
NM_020779.4(WDR35):c.2520A>G (p.Ser840=)
NM_020779.4(WDR35):c.2523T>C (p.Leu841=)
NM_020779.4(WDR35):c.2538G>A (p.Lys846=)
NM_020779.4(WDR35):c.2547+13A>C
NM_020779.4(WDR35):c.2547+9T>C
NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)
NM_020779.4(WDR35):c.2559A>T (p.Gln853His)
NM_020779.4(WDR35):c.2568C>T (p.Val856=)
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.2622A>C (p.Pro874=) rs766138190
NM_020779.4(WDR35):c.2622A>T (p.Pro874=)
NM_020779.4(WDR35):c.2638dup (p.Thr880fs) rs2103399754
NM_020779.4(WDR35):c.2646A>G (p.Val882=)
NM_020779.4(WDR35):c.2658+14C>T
NM_020779.4(WDR35):c.2659-13A>T
NM_020779.4(WDR35):c.2681C>T (p.Ala894Val) rs1670554390
NM_020779.4(WDR35):c.2701G>T (p.Glu901Ter)
NM_020779.4(WDR35):c.2746A>G (p.Lys916Glu) rs2103398404
NM_020779.4(WDR35):c.2760T>A (p.Leu920=) rs1405610639
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.2838G>A (p.Glu946=)
NM_020779.4(WDR35):c.2844G>A (p.Lys948=)
NM_020779.4(WDR35):c.2856A>G (p.Lys952=) rs755843830
NM_020779.4(WDR35):c.288T>C (p.Ile96=)
NM_020779.4(WDR35):c.2913T>C (p.His971=) rs561223092
NM_020779.4(WDR35):c.2960C>T (p.Ser987Leu) rs750968053
NM_020779.4(WDR35):c.2964+13G>A rs557213514
NM_020779.4(WDR35):c.2964+14T>A
NM_020779.4(WDR35):c.2964+17_2964+18delinsGG
NM_020779.4(WDR35):c.2965-20T>C
NM_020779.4(WDR35):c.2965-5C>T
NM_020779.4(WDR35):c.2968A>G (p.Thr990Ala) rs1184414721
NM_020779.4(WDR35):c.2976del (p.Leu993fs) rs1490771127
NM_020779.4(WDR35):c.297G>A (p.Met99Ile) rs779065567
NM_020779.4(WDR35):c.297del (p.Met99fs) rs867715686
NM_020779.4(WDR35):c.2980G>T (p.Ala994Ser)
NM_020779.4(WDR35):c.2993AAG[2] (p.Glu1000del) rs746953019
NM_020779.4(WDR35):c.2994A>G (p.Glu998=) rs2103396034
NM_020779.4(WDR35):c.3003T>A (p.Val1001=)
NM_020779.4(WDR35):c.3026C>T (p.Thr1009Ile) rs201153804
NM_020779.4(WDR35):c.3034G>C (p.Ala1012Pro)
NM_020779.4(WDR35):c.30C>T (p.Ser10=) rs1672670437
NM_020779.4(WDR35):c.3117G>T (p.Lys1039Asn)
NM_020779.4(WDR35):c.3121+10T>C
NM_020779.4(WDR35):c.3122-16G>C
NM_020779.4(WDR35):c.3162G>A (p.Val1054=) rs2103378366
NM_020779.4(WDR35):c.3213G>A (p.Gly1071=)
NM_020779.4(WDR35):c.3267A>G (p.Glu1089=)
NM_020779.4(WDR35):c.3281A>T (p.Tyr1094Phe)
NM_020779.4(WDR35):c.3322A>G (p.Lys1108Glu)
NM_020779.4(WDR35):c.333C>T (p.Asn111=)
NM_020779.4(WDR35):c.3340G>A (p.Glu1114Lys) rs2103378015
NM_020779.4(WDR35):c.3362+6C>T
NM_020779.4(WDR35):c.3363-10C>T
NM_020779.4(WDR35):c.3363-11C>A rs2103377636
NM_020779.4(WDR35):c.3385T>C (p.Cys1129Arg) rs1558317812
NM_020779.4(WDR35):c.3396A>G (p.Thr1132=)
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+18C>T
NM_020779.4(WDR35):c.436+4A>G rs1672290200
NM_020779.4(WDR35):c.437-15_437-13del
NM_020779.4(WDR35):c.442C>T (p.Arg148Cys)
NM_020779.4(WDR35):c.489A>G (p.Thr163=)
NM_020779.4(WDR35):c.496G>A (p.Ala166Thr)
NM_020779.4(WDR35):c.497C>T (p.Ala166Val) rs374556044
NM_020779.4(WDR35):c.498G>A (p.Ala166=)
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg) rs397515536
NM_020779.4(WDR35):c.570+20A>G
NM_020779.4(WDR35):c.570+2T>G
NM_020779.4(WDR35):c.570+7_570+10del
NM_020779.4(WDR35):c.571-16A>G
NM_020779.4(WDR35):c.571-3del
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.732C>T (p.Asp244=)
NM_020779.4(WDR35):c.81G>A (p.Gly27=) rs1303835293
NM_020779.4(WDR35):c.837G>C (p.Gln279His) rs764069624
NM_020779.4(WDR35):c.872C>T (p.Pro291Leu)
NM_020779.4(WDR35):c.873G>A (p.Pro291=)
NM_020779.4(WDR35):c.882+10T>A
NM_020779.4(WDR35):c.883-12T>G rs1393592663
NM_020779.4(WDR35):c.883-14A>T
NM_020779.4(WDR35):c.90A>G (p.Ala30=)
NM_020779.4(WDR35):c.920C>T (p.Ser307Phe)
NM_020779.4(WDR35):c.946C>T (p.Leu316=) rs1671968631
NM_052989.3(IFT122):c.1008+17T>G rs2077967767
NM_052989.3(IFT122):c.1008+3A>C
NM_052989.3(IFT122):c.1008+9A>G
NM_052989.3(IFT122):c.1009-5C>T
NM_052989.3(IFT122):c.1044C>T (p.Tyr348=)
NM_052989.3(IFT122):c.108+10dup
NM_052989.3(IFT122):c.108+15T>C
NM_052989.3(IFT122):c.108+4G>A rs1559838129
NM_052989.3(IFT122):c.1088A>G (p.Tyr363Cys)
NM_052989.3(IFT122):c.109-10C>T rs2107928880
NM_052989.3(IFT122):c.109-14G>C
NM_052989.3(IFT122):c.109-7T>C
NM_052989.3(IFT122):c.1128C>T (p.His376=)
NM_052989.3(IFT122):c.1141C>T (p.Gln381Ter)
NM_052989.3(IFT122):c.1147+12_1147+17del
NM_052989.3(IFT122):c.1168C>T (p.Leu390Phe) rs2108292713
NM_052989.3(IFT122):c.1188C>T (p.Ile396=) rs1030774694
NM_052989.3(IFT122):c.1198C>T (p.Arg400Ter)
NM_052989.3(IFT122):c.1199G>A (p.Arg400Gln) rs1405512091
NM_052989.3(IFT122):c.1220A>G (p.Glu407Gly)
NM_052989.3(IFT122):c.1275G>A (p.Arg425=) rs2108293656
NM_052989.3(IFT122):c.127G>A (p.Gly43Ser)
NM_052989.3(IFT122):c.132C>G (p.Thr44=) rs371772807
NM_052989.3(IFT122):c.1331A>G (p.Asn444Ser)
NM_052989.3(IFT122):c.1350+20A>G
NM_052989.3(IFT122):c.1353G>T (p.Glu451Asp)
NM_052989.3(IFT122):c.1367G>T (p.Cys456Phe) rs1335391766
NM_052989.3(IFT122):c.1372T>G (p.Ser458Ala)
NM_052989.3(IFT122):c.1378A>T (p.Ser460Cys) rs1577642330
NM_052989.3(IFT122):c.1393C>A (p.Arg465=)
NM_052989.3(IFT122):c.1394G>A (p.Arg465Gln)
NM_052989.3(IFT122):c.1410G>A (p.Glu470=)
NM_052989.3(IFT122):c.1411T>G (p.Ser471Ala)
NM_052989.3(IFT122):c.1432dup (p.Val478fs) rs2108311256
NM_052989.3(IFT122):c.1461C>A (p.Gly487=)
NM_052989.3(IFT122):c.1488+16C>A rs371107052
NM_052989.3(IFT122):c.1488+16C>T
NM_052989.3(IFT122):c.1488+19C>A
NM_052989.3(IFT122):c.1488G>A (p.Gln496=) rs2078432243
NM_052989.3(IFT122):c.1489-17C>T
NM_052989.3(IFT122):c.1511A>G (p.Asn504Ser)
NM_052989.3(IFT122):c.1552C>T (p.Arg518Cys)
NM_052989.3(IFT122):c.1572C>G (p.Ala524=)
NM_052989.3(IFT122):c.1590C>A (p.Ala530=) rs755545448
NM_052989.3(IFT122):c.1591G>A (p.Val531Met)
NM_052989.3(IFT122):c.1600G>A (p.Glu534Lys)
NM_052989.3(IFT122):c.1634C>G (p.Thr545Ser)
NM_052989.3(IFT122):c.1644G>T (p.Leu548=) rs1211494967
NM_052989.3(IFT122):c.1654-16T>C rs2078911744
NM_052989.3(IFT122):c.1654-20C>G rs774202017
NM_052989.3(IFT122):c.1659A>G (p.Pro553=)
NM_052989.3(IFT122):c.1704C>G (p.Leu568=)
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636
NM_052989.3(IFT122):c.1726C>T (p.Leu576Phe)
NM_052989.3(IFT122):c.1758C>T (p.His586=)
NM_052989.3(IFT122):c.1785C>T (p.Val595=)
NM_052989.3(IFT122):c.1787G>T (p.Gly596Val)
NM_052989.3(IFT122):c.1793A>G (p.Asn598Ser)
NM_052989.3(IFT122):c.180A>G (p.Ala60=)
NM_052989.3(IFT122):c.1828A>G (p.Ile610Val)
NM_052989.3(IFT122):c.1836C>T (p.Ala612=)
NM_052989.3(IFT122):c.1848G>A (p.Pro616=)
NM_052989.3(IFT122):c.1851+3A>G
NM_052989.3(IFT122):c.1852-11A>C
NM_052989.3(IFT122):c.1852-13T>C
NM_052989.3(IFT122):c.1852-14A>G
NM_052989.3(IFT122):c.1852-8T>C
NM_052989.3(IFT122):c.185C>T (p.Ala62Val)
NM_052989.3(IFT122):c.1868A>G (p.Gln623Arg)
NM_052989.3(IFT122):c.186G>A (p.Ala62=)
NM_052989.3(IFT122):c.1890C>G (p.Phe630Leu)
NM_052989.3(IFT122):c.1892A>G (p.Lys631Arg)
NM_052989.3(IFT122):c.189G>A (p.Lys63=)
NM_052989.3(IFT122):c.1903C>G (p.Gln635Glu)
NM_052989.3(IFT122):c.1915T>C (p.Leu639=)
NM_052989.3(IFT122):c.194-17T>C
NM_052989.3(IFT122):c.194-4T>C
NM_052989.3(IFT122):c.1950C>G (p.Ala650=)
NM_052989.3(IFT122):c.1959G>A (p.Ala653=)
NM_052989.3(IFT122):c.1963del (p.Glu655fs)
NM_052989.3(IFT122):c.1992+10T>C
NM_052989.3(IFT122):c.1992+17C>T
NM_052989.3(IFT122):c.1992G>A (p.Lys664=)
NM_052989.3(IFT122):c.1993-11C>A
NM_052989.3(IFT122):c.1993-7G>A rs2285354
NM_052989.3(IFT122):c.1993-7G>C rs2285354
NM_052989.3(IFT122):c.1993-8_1993-7delinsTC rs2108448349
NM_052989.3(IFT122):c.199C>T (p.Arg67Cys)
NM_052989.3(IFT122):c.2063G>A (p.Gly688Glu)
NM_052989.3(IFT122):c.2087T>G (p.Leu696Arg)
NM_052989.3(IFT122):c.2121T>C (p.His707=) rs763504971
NM_052989.3(IFT122):c.2127C>T (p.Ala709=)
NM_052989.3(IFT122):c.2148T>C (p.Ser716=) rs2108483305
NM_052989.3(IFT122):c.2163C>T (p.Leu721=)
NM_052989.3(IFT122):c.2165C>T (p.Ala722Val) rs143662777
NM_052989.3(IFT122):c.2181C>T (p.Thr727=) rs545131069
NM_052989.3(IFT122):c.2208+7T>C
NM_052989.3(IFT122):c.2226A>T (p.Gly742=)
NM_052989.3(IFT122):c.2232C>T (p.Pro744=)
NM_052989.3(IFT122):c.2233A>G (p.Lys745Glu)
NM_052989.3(IFT122):c.2301C>G (p.Ala767=) rs540474261
NM_052989.3(IFT122):c.2301C>T (p.Ala767=)
NM_052989.3(IFT122):c.2303T>C (p.Val768Ala)
NM_052989.3(IFT122):c.2306A>G (p.Glu769Gly)
NM_052989.3(IFT122):c.2309T>G (p.Met770Arg)
NM_052989.3(IFT122):c.2313C>A (p.Tyr771Ter)
NM_052989.3(IFT122):c.231TAT[1] (p.Ile79del)
NM_052989.3(IFT122):c.2331C>T (p.His777=)
NM_052989.3(IFT122):c.2332G>T (p.Val778Phe) rs139943115
NM_052989.3(IFT122):c.2375+14C>T
NM_052989.3(IFT122):c.2384A>C (p.Asp795Ala)
NM_052989.3(IFT122):c.2388C>T (p.Ile796=)
NM_052989.3(IFT122):c.2392C>T (p.Arg798Cys)
NM_052989.3(IFT122):c.2409T>C (p.Ala803=)
NM_052989.3(IFT122):c.2430G>A (p.Leu810=)
NM_052989.3(IFT122):c.2452C>T (p.Leu818=)
NM_052989.3(IFT122):c.2454G>A (p.Leu818=)
NM_052989.3(IFT122):c.2465G>T (p.Gly822Val)
NM_052989.3(IFT122):c.2496T>C (p.Gly832=)
NM_052989.3(IFT122):c.2501T>C (p.Leu834Pro)
NM_052989.3(IFT122):c.2512G>C (p.Val838Leu)
NM_052989.3(IFT122):c.2537G>A (p.Arg846His) rs370415289
NM_052989.3(IFT122):c.2548-11C>T
NM_052989.3(IFT122):c.2548-18A>G
NM_052989.3(IFT122):c.2548-19C>A
NM_052989.3(IFT122):c.2548-19C>T
NM_052989.3(IFT122):c.2559G>A (p.Leu853=)
NM_052989.3(IFT122):c.2568G>A (p.Lys856=)
NM_052989.3(IFT122):c.2588A>G (p.Asp863Gly)
NM_052989.3(IFT122):c.2601G>A (p.Pro867=)
NM_052989.3(IFT122):c.2630G>A (p.Arg877His) rs561698295
NM_052989.3(IFT122):c.2645A>G (p.Gln882Arg)
NM_052989.3(IFT122):c.2650+20A>C rs148941657
NM_052989.3(IFT122):c.2650+20A>G
NM_052989.3(IFT122):c.2652G>T (p.Ala884=)
NM_052989.3(IFT122):c.2672A>G (p.Gln891Arg) rs2082199852
NM_052989.3(IFT122):c.2683G>A (p.Val895Ile)
NM_052989.3(IFT122):c.2705_2706del (p.Thr902fs)
NM_052989.3(IFT122):c.272+14G>T
NM_052989.3(IFT122):c.2724G>A (p.Glu908=)
NM_052989.3(IFT122):c.273-16G>C
NM_052989.3(IFT122):c.273-212C>T
NM_052989.3(IFT122):c.273-245C>T
NM_052989.3(IFT122):c.273-257C>A
NM_052989.3(IFT122):c.273-266G>A
NM_052989.3(IFT122):c.273-283A>G
NM_052989.3(IFT122):c.273-313G>C
NM_052989.3(IFT122):c.273-323C>T
NM_052989.3(IFT122):c.273-334T>G
NM_052989.3(IFT122):c.273-341dup
NM_052989.3(IFT122):c.273-374_273-369dup
NM_052989.3(IFT122):c.273-388T>A rs1009331489
NM_052989.3(IFT122):c.2777T>C (p.Leu926Pro)
NM_052989.3(IFT122):c.2778C>T (p.Leu926=)
NM_052989.3(IFT122):c.2783T>A (p.Ile928Lys) rs747428443
NM_052989.3(IFT122):c.2792-12T>A
NM_052989.3(IFT122):c.2792-13C>T
NM_052989.3(IFT122):c.2792-14G>A
NM_052989.3(IFT122):c.2799C>T (p.Ala933=)
NM_052989.3(IFT122):c.2812A>G (p.Met938Val)
NM_052989.3(IFT122):c.2835C>G (p.Phe945Leu)
NM_052989.3(IFT122):c.2876A>G (p.His959Arg)
NM_052989.3(IFT122):c.2886+19C>T
NM_052989.3(IFT122):c.2886G>A (p.Thr962=)
NM_052989.3(IFT122):c.2887-15T>A
NM_052989.3(IFT122):c.2888A>G (p.Glu963Gly)
NM_052989.3(IFT122):c.2894C>T (p.Pro965Leu)
NM_052989.3(IFT122):c.2901T>G (p.Ser967Arg)
NM_052989.3(IFT122):c.2903T>G (p.Val968Gly)
NM_052989.3(IFT122):c.2909G>A (p.Arg970His)
NM_052989.3(IFT122):c.2913T>C (p.Pro971=)
NM_052989.3(IFT122):c.2943G>A (p.Leu981=)
NM_052989.3(IFT122):c.2970C>T (p.Pro990=)
NM_052989.3(IFT122):c.2972C>T (p.Ser991Leu)
NM_052989.3(IFT122):c.2987+17C>A
NM_052989.3(IFT122):c.2987+17C>G
NM_052989.3(IFT122):c.2988-5G>A
NM_052989.3(IFT122):c.2999T>G (p.Phe1000Cys)
NM_052989.3(IFT122):c.299C>T (p.Ser100Phe)
NM_052989.3(IFT122):c.3003C>G (p.Thr1001=)
NM_052989.3(IFT122):c.3013C>T (p.Gln1005Ter)
NM_052989.3(IFT122):c.3027C>A (p.Leu1009=)
NM_052989.3(IFT122):c.304A>C (p.Asn102His)
NM_052989.3(IFT122):c.3051C>T (p.His1017=) rs538635135
NM_052989.3(IFT122):c.3067C>T (p.Arg1023Cys)
NM_052989.3(IFT122):c.3076_3080delinsGTA (p.Tyr1026fs)
NM_052989.3(IFT122):c.3088A>G (p.Arg1030Gly)
NM_052989.3(IFT122):c.3115A>G (p.Thr1039Ala)
NM_052989.3(IFT122):c.3123C>T (p.Thr1041=)
NM_052989.3(IFT122):c.3124A>G (p.Ile1042Val)
NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys) rs555281580
NM_052989.3(IFT122):c.3147C>T (p.Asp1049=)
NM_052989.3(IFT122):c.3154-12G>A
NM_052989.3(IFT122):c.3154-15G>T
NM_052989.3(IFT122):c.3175C>T (p.Arg1059Cys)
NM_052989.3(IFT122):c.3180C>A (p.Cys1060Ter)
NM_052989.3(IFT122):c.3192C>T (p.Asn1064=)
NM_052989.3(IFT122):c.3195G>A (p.Pro1065=)
NM_052989.3(IFT122):c.3240C>T (p.Pro1080=)
NM_052989.3(IFT122):c.3255C>T (p.Ala1085=)
NM_052989.3(IFT122):c.3265+5G>A
NM_052989.3(IFT122):c.3265+8C>G
NM_052989.3(IFT122):c.3266-11A>G
NM_052989.3(IFT122):c.3268G>T (p.Val1090Leu)
NM_052989.3(IFT122):c.3308C>G (p.Thr1103Ser)
NM_052989.3(IFT122):c.3316G>A (p.Glu1106Lys)
NM_052989.3(IFT122):c.3318A>G (p.Glu1106=)
NM_052989.3(IFT122):c.3359G>A (p.Arg1120Gln)
NM_052989.3(IFT122):c.3373C>G (p.Leu1125Val)
NM_052989.3(IFT122):c.3378G>A (p.Glu1126=)
NM_052989.3(IFT122):c.3381T>C (p.Ile1127=)
NM_052989.3(IFT122):c.3384A>T (p.Ala1128=)
NM_052989.3(IFT122):c.3392-4C>G
NM_052989.3(IFT122):c.3392-5T>G rs2108728720
NM_052989.3(IFT122):c.3392-6C>T
NM_052989.3(IFT122):c.3400A>G (p.Ile1134Val) rs754333037
NM_052989.3(IFT122):c.3404T>C (p.Leu1135Pro) rs1251905610
NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs) rs1299632365
NM_052989.3(IFT122):c.3431_3432delinsCT (p.Ile1144Thr)
NM_052989.3(IFT122):c.3471+13C>T
NM_052989.3(IFT122):c.3471+7G>T
NM_052989.3(IFT122):c.3471+7_3471+34del rs762356612
NM_052989.3(IFT122):c.3472-19C>A
NM_052989.3(IFT122):c.347_348del (p.Phe116fs)
NM_052989.3(IFT122):c.348T>C (p.Phe116=)
NM_052989.3(IFT122):c.349+1G>A rs1559869525
NM_052989.3(IFT122):c.3490G>A (p.Val1164Met)
NM_052989.3(IFT122):c.350-9G>A
NM_052989.3(IFT122):c.3504G>A (p.Val1168=)
NM_052989.3(IFT122):c.3506G>C (p.Ser1169Thr)
NM_052989.3(IFT122):c.3509G>A (p.Arg1170Gln)
NM_052989.3(IFT122):c.3520C>T (p.Arg1174Cys)
NM_052989.3(IFT122):c.3536G>A (p.Arg1179Gln) rs766429633
NM_052989.3(IFT122):c.3553C>T (p.Arg1185Ter)
NM_052989.3(IFT122):c.3563del (p.Pro1188fs)
NM_052989.3(IFT122):c.356G>A (p.Trp119Ter)
NM_052989.3(IFT122):c.3575G>A (p.Trp1192Ter)
NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys) rs201590142
NM_052989.3(IFT122):c.3586del (p.Arg1196fs) rs1560036538
NM_052989.3(IFT122):c.3616A>G (p.Met1206Val)
NM_052989.3(IFT122):c.3630C>T (p.Cys1210=)
NM_052989.3(IFT122):c.3637-11T>C
NM_052989.3(IFT122):c.3637-13T>C rs2084584710
NM_052989.3(IFT122):c.3681C>T (p.Gly1227=)
NM_052989.3(IFT122):c.3723A>C (p.Pro1241=)
NM_052989.3(IFT122):c.384del (p.Lys128fs)
NM_052989.3(IFT122):c.39C>T (p.His13=)
NM_052989.3(IFT122):c.41+16G>A
NM_052989.3(IFT122):c.410G>A (p.Cys137Tyr) rs1278478989
NM_052989.3(IFT122):c.411C>T (p.Cys137=)
NM_052989.3(IFT122):c.416+13C>T
NM_052989.3(IFT122):c.416+19del rs2108102299
NM_052989.3(IFT122):c.416+2T>G rs2108101855
NM_052989.3(IFT122):c.417-6A>G
NM_052989.3(IFT122):c.42-6G>T rs757753414
NM_052989.3(IFT122):c.42T>C (p.Cys14=)
NM_052989.3(IFT122):c.443_449dup (p.Met151fs)
NM_052989.3(IFT122):c.445C>T (p.Leu149=)
NM_052989.3(IFT122):c.458A>G (p.Asn153Ser)
NM_052989.3(IFT122):c.462G>A (p.Gly154=)
NM_052989.3(IFT122):c.476G>A (p.Arg159Gln)
NM_052989.3(IFT122):c.507C>T (p.Ile169=) rs139962927
NM_052989.3(IFT122):c.516G>T (p.Pro172=) rs748272790
NM_052989.3(IFT122):c.521G>C (p.Gly174Ala)
NM_052989.3(IFT122):c.535A>G (p.Ile179Val)
NM_052989.3(IFT122):c.536T>G (p.Ile179Arg) rs769527595
NM_052989.3(IFT122):c.556C>T (p.Pro186Ser) rs2108118912
NM_052989.3(IFT122):c.55G>T (p.Ala19Ser)
NM_052989.3(IFT122):c.563+18C>T
NM_052989.3(IFT122):c.567A>G (p.Arg189=)
NM_052989.3(IFT122):c.612T>C (p.Asp204=)
NM_052989.3(IFT122):c.618T>G (p.Ile206Met) rs1320096747
NM_052989.3(IFT122):c.640A>G (p.Ile214Val)
NM_052989.3(IFT122):c.686A>C (p.Glu229Ala) rs1433055646
NM_052989.3(IFT122):c.690A>G (p.Ala230=)
NM_052989.3(IFT122):c.702_713dup (p.Pro235_Glu238dup) rs2076877349
NM_052989.3(IFT122):c.718G>A (p.Asp240Asn)
NM_052989.3(IFT122):c.72A>G (p.Gly24=)
NM_052989.3(IFT122):c.757A>G (p.Ile253Val)
NM_052989.3(IFT122):c.760C>A (p.Leu254Met)
NM_052989.3(IFT122):c.788T>C (p.Val263Ala)
NM_052989.3(IFT122):c.795C>T (p.Phe265=) rs2077133706
NM_052989.3(IFT122):c.806G>A (p.Ser269Asn) rs2108198145
NM_052989.3(IFT122):c.807T>G (p.Ser269Arg)
NM_052989.3(IFT122):c.816+10C>A
NM_052989.3(IFT122):c.816+12T>C rs2077135597
NM_052989.3(IFT122):c.817A>G (p.Ile273Val)
NM_052989.3(IFT122):c.852C>G (p.Cys284Trp) rs1268071941
NM_052989.3(IFT122):c.894G>A (p.Gly298=) rs1300966652
NM_052989.3(IFT122):c.903C>T (p.Asp301=)
NM_052989.3(IFT122):c.916_917del (p.Leu306fs)
NM_052989.3(IFT122):c.928G>A (p.Asp310Asn)
NM_052989.3(IFT122):c.977C>T (p.Thr326Met) rs1389723772
NM_052989.3(IFT122):c.982C>T (p.Gln328Ter)
NM_052989.3(IFT122):c.993G>A (p.Pro331=)

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