ClinVar Miner

List of variants reported as likely pathogenic for Jeune syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 835
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_016008.4(DYNC2LI1):c.16C>T (p.Leu6Phe) rs146698690 0.00271
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_025103.4(IFT74):c.120+2dup rs551515830 0.00048
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00043
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802 0.00041
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_015693.4(INTU):c.1628G>A (p.Arg543His) rs34027211 0.00029
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_016004.5(IFT52):c.931G>A (p.Glu311Lys) rs145672738 0.00024
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230 0.00023
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421 0.00018
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429 0.00014
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_001377.3(DYNC2H1):c.5960C>T (p.Thr1987Met) rs769618486 0.00011
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294 0.00011
NM_025129.5(FUZ):c.98_111+9del rs548706733 0.00010
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977 0.00009
NM_014055.4(IFT81):c.1534C>T (p.Arg512Ter) rs200335504 0.00008
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His) rs770380730 0.00006
NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr) rs1196317554 0.00006
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900 0.00006
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_015662.3(IFT172):c.1445T>G (p.Val482Gly) rs61740250 0.00006
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro) rs150742619 0.00006
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857 0.00006
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile) rs771511132 0.00005
NM_018051.5(DYNC2I1):c.1777C>T (p.Arg593Trp) rs776300442 0.00005
NM_020779.4(WDR35):c.2415-2A>G rs143550695 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter) rs985064686 0.00004
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His) rs759549373 0.00004
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly) rs368654019 0.00004
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys) rs775426647 0.00004
NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln) rs761391585 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_001377.3(DYNC2H1):c.8145C>A (p.Tyr2715Ter) rs371940321 0.00004
NM_001377.3(DYNC2H1):c.9011G>A (p.Arg3004His) rs755871858 0.00004
NM_014055.4(IFT81):c.87G>C (p.Leu29Phe) rs751222088 0.00004
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter) rs139021548 0.00004
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571 0.00004
NM_020779.4(WDR35):c.1255+1G>A rs371669862 0.00004
NM_025132.4(WDR19):c.3565+1G>A rs587777352 0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635 0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378 0.00004
NM_052844.4(DYNC2I2):c.1339C>T (p.Arg447Trp) rs587777093 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00004
NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter) rs201037487 0.00004
NM_001329943.3(KIAA0586):c.411-1486G>A rs982449380 0.00003
NM_001375405.1(CEP120):c.1039-2A>T rs774440370 0.00003
NM_001375405.1(CEP120):c.595G>C (p.Ala199Pro) rs367600930 0.00003
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447 0.00003
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391 0.00003
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val) rs369614706 0.00003
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709 0.00003
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys) rs755441612 0.00003
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047 0.00003
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321 0.00003
NM_001377.3(DYNC2H1):c.7663G>A (p.Val2555Met) rs746195428 0.00003
NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys) rs371214841 0.00003
NM_001377.3(DYNC2H1):c.9353+1G>A rs776407305 0.00003
NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter) rs373924400 0.00003
NM_014714.4(IFT140):c.1901+1G>T rs375910993 0.00003
NM_015650.4(TRAF3IP1):c.1368-1del rs764906529 0.00003
NM_015650.4(TRAF3IP1):c.169G>A (p.Glu57Lys) rs769651861 0.00003
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala) rs1360128571 0.00003
NM_015693.4(INTU):c.826C>T (p.Gln276Ter) rs373900644 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_001199397.3(NEK1):c.214+1G>A rs1049502301 0.00002
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys) rs772739103 0.00002
NM_001375405.1(CEP120):c.2323C>T (p.Gln775Ter) rs759125480 0.00002
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725 0.00002
NM_001377.3(DYNC2H1):c.11312C>T (p.Ala3771Val) rs760635983 0.00002
NM_001377.3(DYNC2H1):c.11829C>G (p.Tyr3943Ter) rs369658526 0.00002
NM_001377.3(DYNC2H1):c.1360+2del rs780539887 0.00002
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs) rs755338872 0.00002
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969 0.00002
NM_001377.3(DYNC2H1):c.7277G>T (p.Arg2426Leu) rs373521030 0.00002
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032 0.00002
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln) rs754049402 0.00002
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027 0.00002
NM_015662.3(IFT172):c.402+2T>G rs774548930 0.00002
NM_015693.4(INTU):c.1288C>T (p.Arg430Cys) rs1227833863 0.00002
NM_024753.5(TTC21B):c.1386+1G>T rs764514397 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_147127.5(EVC2):c.2829+1G>A rs752255602 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_153717.3(EVC):c.2562-2A>G rs1293098417 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_001102564.3(IFT43):c.73C>T (p.Arg25Ter) rs780404339 0.00001
NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp) rs992324423 0.00001
NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter) rs758677637 0.00001
NM_001199397.3(NEK1):c.2588-2A>G rs201769828 0.00001
NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg) rs1301705612 0.00001
NM_001199397.3(NEK1):c.868+1G>C rs897732893 0.00001
NM_001329943.3(KIAA0586):c.1885-2A>G rs1431898844 0.00001
NM_001329943.3(KIAA0586):c.2944+4A>C rs372841738 0.00001
NM_001329943.3(KIAA0586):c.3781+2T>C rs1331480187 0.00001
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter) rs1566903524 0.00001
NM_001329943.3(KIAA0586):c.4324-1G>A rs753649082 0.00001
NM_001329943.3(KIAA0586):c.4324-2A>G rs763815640 0.00001
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) rs562139820 0.00001
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) rs764926983 0.00001
NM_001377.3(DYNC2H1):c.1248+1G>A rs1389651809 0.00001
NM_001377.3(DYNC2H1):c.12642_12643insT (p.Ile4215fs) rs756811136 0.00001
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu) rs770569272 0.00001
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) rs137853030 0.00001
NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter) rs373335226 0.00001
NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter) rs755305630 0.00001
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868 0.00001
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862 0.00001
NM_001377.3(DYNC2H1):c.4964A>G (p.Tyr1655Cys) rs1461272672 0.00001
NM_001377.3(DYNC2H1):c.5876T>A (p.Ile1959Asn) rs756556129 0.00001
NM_001377.3(DYNC2H1):c.6478-16G>A rs376892534 0.00001
NM_001377.3(DYNC2H1):c.6613C>T (p.Arg2205Cys) rs750689118 0.00001
NM_001377.3(DYNC2H1):c.6866T>C (p.Leu2289Pro) rs1555061205 0.00001
NM_001377.3(DYNC2H1):c.7112C>T (p.Thr2371Ile) rs1322884865 0.00001
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849 0.00001
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873 0.00001
NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser) rs762588952 0.00001
NM_001377.3(DYNC2H1):c.7643T>C (p.Phe2548Ser) rs1555064376 0.00001
NM_001377.3(DYNC2H1):c.767-2A>G rs762873763 0.00001
NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys) rs758155107 0.00001
NM_001377.3(DYNC2H1):c.7984C>T (p.Arg2662Trp) rs964711006 0.00001
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) rs397514635 0.00001
NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter) rs747857715 0.00001
NM_001377.3(DYNC2H1):c.8197G>T (p.Gly2733Cys) rs969015057 0.00001
NM_001377.3(DYNC2H1):c.8694+1G>T rs1455606327 0.00001
NM_001377.3(DYNC2H1):c.9313C>T (p.Arg3105Ter) rs777932973 0.00001
NM_001377.3(DYNC2H1):c.9820-2A>G rs864622111 0.00001
NM_001377.3(DYNC2H1):c.9844G>A (p.Asp3282Asn) rs780600124 0.00001
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637 0.00001
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) rs758052634 0.00001
NM_014714.4(IFT140):c.2578-2A>G rs2040685752 0.00001
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) rs144513458 0.00001
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter) rs1432688490 0.00001
NM_014714.4(IFT140):c.3874-1G>A rs749563050 0.00001
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) rs1403669200 0.00001
NM_015650.4(TRAF3IP1):c.988-1G>C rs372499275 0.00001
NM_015662.3(IFT172):c.1525-1G>A rs370540673 0.00001
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter) rs202024173 0.00001
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter) rs761095604 0.00001
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419 0.00001
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter) rs999731005 0.00001
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter) rs150246251 0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079 0.00001
NM_015662.3(IFT172):c.4868C>T (p.Thr1623Ile) rs762958757 0.00001
NM_018051.5(DYNC2I1):c.2284C>T (p.Arg762Ter) rs1456300819 0.00001
NM_018051.5(DYNC2I1):c.2841del (p.Gln947fs) rs748645101 0.00001
NM_020779.4(WDR35):c.1400+3A>G rs776631281 0.00001
NM_020800.3(IFT80):c.401C>G (p.Ser134Ter) rs1241223548 0.00001
NM_024753.5(TTC21B):c.1087+1G>A rs776301212 0.00001
NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp) rs1553516687 0.00001
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1397C>A (p.Pro466His) rs1453462442 0.00001
NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr) rs866222900 0.00001
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) rs779134983 0.00001
NM_024753.5(TTC21B):c.3102-2A>G rs779472675 0.00001
NM_024753.5(TTC21B):c.553-2A>G rs773580610 0.00001
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys) rs759662469 0.00001
NM_025129.5(FUZ):c.851G>T (p.Arg284Leu) rs368721486 0.00001
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg) rs1215108056 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.1982+2T>C rs780847651 0.00001
NM_025132.4(WDR19):c.2363+1G>A rs886041912 0.00001
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter) rs772599282 0.00001
NM_025132.4(WDR19):c.3262-2A>G rs753291151 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025132.4(WDR19):c.890+1G>T rs1338996032 0.00001
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser) rs587777096 0.00001
NM_052844.4(DYNC2I2):c.1397A>C (p.Gln466Pro) rs1554770620 0.00001
NM_052844.4(DYNC2I2):c.1480C>T (p.Gln494Ter) rs751323441 0.00001
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp) rs555811074 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1655_1658del (p.Gly552fs) rs1159758018 0.00001
NM_147127.5(EVC2):c.1713dup (p.Asn572fs) rs1553836165 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.229-1G>T rs1214848359 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_147127.5(EVC2):c.3361-2A>G rs1036371676 0.00001
NM_147127.5(EVC2):c.3361-2del rs757914735 0.00001
NM_147127.5(EVC2):c.450+2T>C rs781096099 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_147127.5(EVC2):c.62dup (p.Ala22fs) rs1430962566 0.00001
NM_147127.5(EVC2):c.706+2T>C rs1360260333 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_153717.3(EVC):c.1564-2A>G rs1553886849 0.00001
NM_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter) rs1714132239 0.00001
NM_153717.3(EVC):c.2098-1G>A rs773019082 0.00001
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.702+1G>A rs1553867138 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
GRCh37/hg19 16p13.3(chr16:1568167-1570859)x3
GRCh37/hg19 3q29(chr3:196033814-196033883)
NC_000002.11:g.(?_166767817)_(166806254_?)dup
NC_000003.11:g.(?_159992649)_(160000363_?)del
NC_000004.11:g.(?_170482611)_(170483367_?)del
NC_000004.11:g.(?_5567008)_(5587839_?)dup
NC_000004.11:g.(?_5630335)_(5635926_?)del
NC_000004.11:g.(?_5713108)_(5714221_?)del
NC_000004.11:g.(?_5733142)_(5735172_?)del
NC_000004.11:g.(?_5785269)_(5803831_?)dup
NC_000011.10:g.(?_103303073)_(103316640_?)del
NC_000014.8:g.(?_58896061)_(58899195_?)dup
NC_000014.8:g.(?_58910652)_(58917484_?)dup
NC_000014.8:g.(?_58949211)_(58949450_?)dup
NC_000014.8:g.(?_58951496)_(58953792_?)del
NC_000014.9:g.(?_58448320)_(58450766_?)dup
NC_000016.9:g.(?_1573499)_(1576817_?)dup
NM_001006657.2(WDR35):c.1195-2A>T
NM_001102564.3(IFT43):c.509ATG[1] (p.Asp171del) rs2140102081
NM_001102564.3(IFT43):c.520T>C (p.Trp174Arg) rs1555369050
NM_001102564.3(IFT43):c.8A>G (p.Asp3Gly) rs144776609
NM_001199397.3(NEK1):c.1020+1G>A
NM_001199397.3(NEK1):c.1161_1162insC (p.Glu388fs)
NM_001199397.3(NEK1):c.117+1G>A rs794727285
NM_001199397.3(NEK1):c.118-1G>A
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001199397.3(NEK1):c.1562+2T>G
NM_001199397.3(NEK1):c.1769_1770del (p.Arg590fs) rs1554053289
NM_001199397.3(NEK1):c.1833+1G>T
NM_001199397.3(NEK1):c.1868del (p.Ser623fs) rs1362848762
NM_001199397.3(NEK1):c.1992del (p.Val665fs) rs775849720
NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs) rs752878896
NM_001199397.3(NEK1):c.2886-1G>A rs773496891
NM_001199397.3(NEK1):c.3391G>C (p.Asp1131His) rs2111032650
NM_001199397.3(NEK1):c.3761_3771del (p.Ile1254fs) rs2111007067
NM_001199397.3(NEK1):c.442G>T (p.Gly148Ter)
NM_001199397.3(NEK1):c.599_602del (p.Lys200fs) rs1554075284
NM_001199397.3(NEK1):c.606+1G>C
NM_001199397.3(NEK1):c.893del (p.Asn298fs) rs1765802748
NM_001329943.3(KIAA0586):c.-29A>C rs752709426
NM_001329943.3(KIAA0586):c.1129+1G>A rs2140707466
NM_001329943.3(KIAA0586):c.1130-2A>G
NM_001329943.3(KIAA0586):c.1253+1G>A
NM_001329943.3(KIAA0586):c.1884+1G>T
NM_001329943.3(KIAA0586):c.200-2A>G
NM_001329943.3(KIAA0586):c.2254+1G>T
NM_001329943.3(KIAA0586):c.2634+1G>T
NM_001329943.3(KIAA0586):c.271-1G>A
NM_001329943.3(KIAA0586):c.2825+1G>A rs2141025675
NM_001329943.3(KIAA0586):c.2945-1G>C
NM_001329943.3(KIAA0586):c.3142_3144+5del rs771240219
NM_001329943.3(KIAA0586):c.3144+1G>A
NM_001329943.3(KIAA0586):c.3144+2T>C
NM_001329943.3(KIAA0586):c.3398del (p.Leu1133fs) rs1566883760
NM_001329943.3(KIAA0586):c.341-2A>G
NM_001329943.3(KIAA0586):c.3859-3_3865del
NM_001329943.3(KIAA0586):c.3991-1G>A
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG
NM_001329943.3(KIAA0586):c.807+1G>T
NM_001375405.1(CEP120):c.1255+1G>A
NM_001375405.1(CEP120):c.1861-2A>G
NM_001375405.1(CEP120):c.2013+1G>A
NM_001375405.1(CEP120):c.2014-2A>G
NM_001375405.1(CEP120):c.2580+2T>A
NM_001375405.1(CEP120):c.321+1G>A
NM_001375405.1(CEP120):c.50-2113_206+103del
NM_001377.3(DYNC2H1):c.10099C>A (p.Arg3367Ser)
NM_001377.3(DYNC2H1):c.10099C>T (p.Arg3367Cys) rs200710887
NM_001377.3(DYNC2H1):c.10100G>T (p.Arg3367Leu) rs759549373
NM_001377.3(DYNC2H1):c.10105T>C (p.Phe3369Leu) rs1555081345
NM_001377.3(DYNC2H1):c.10141C>T (p.Pro3381Ser)
NM_001377.3(DYNC2H1):c.10207-1G>C
NM_001377.3(DYNC2H1):c.10462-2A>G
NM_001377.3(DYNC2H1):c.10594C>T (p.Gln3532Ter) rs1565438488
NM_001377.3(DYNC2H1):c.10603C>T (p.Gln3535Ter) rs1555082470
NM_001377.3(DYNC2H1):c.10605+1G>T
NM_001377.3(DYNC2H1):c.10761+1G>A
NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter) rs764769351
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser) rs769053227
NM_001377.3(DYNC2H1):c.10918del (p.Leu3640fs) rs759649136
NM_001377.3(DYNC2H1):c.11256+1G>T
NM_001377.3(DYNC2H1):c.11320G>A (p.Gly3774Arg) rs2135399555
NM_001377.3(DYNC2H1):c.11390dup (p.Asn3797fs)
NM_001377.3(DYNC2H1):c.11493+2T>A rs1555096711
NM_001377.3(DYNC2H1):c.11494-1G>C
NM_001377.3(DYNC2H1):c.11597del (p.Ser3866fs) rs1555098222
NM_001377.3(DYNC2H1):c.11650-1G>A rs878852996
NM_001377.3(DYNC2H1):c.11713_11716del (p.Arg3905fs) rs1453448143
NM_001377.3(DYNC2H1):c.11726-1G>A
NM_001377.3(DYNC2H1):c.11726-2A>G
NM_001377.3(DYNC2H1):c.11934+1G>A
NM_001377.3(DYNC2H1):c.12156+1G>T
NM_001377.3(DYNC2H1):c.12157-1G>T
NM_001377.3(DYNC2H1):c.12157-2A>G
NM_001377.3(DYNC2H1):c.12367-1G>A
NM_001377.3(DYNC2H1):c.12409C>T (p.Pro4137Ser)
NM_001377.3(DYNC2H1):c.12410C>T (p.Pro4137Leu)
NM_001377.3(DYNC2H1):c.12440G>A (p.Arg4147His)
NM_001377.3(DYNC2H1):c.12456+2T>C rs778359687
NM_001377.3(DYNC2H1):c.12457-1G>C rs2135805319
NM_001377.3(DYNC2H1):c.12466_12469del (p.Asp4156fs) rs766816050
NM_001377.3(DYNC2H1):c.12542del (p.Asn4181fs)
NM_001377.3(DYNC2H1):c.12566+2T>C
NM_001377.3(DYNC2H1):c.12567-1G>A
NM_001377.3(DYNC2H1):c.12649-1G>A rs1333438254
NM_001377.3(DYNC2H1):c.12649-1G>T
NM_001377.3(DYNC2H1):c.12695T>G (p.Leu4232Arg) rs1945272232
NM_001377.3(DYNC2H1):c.12765+1_12765+4del
NM_001377.3(DYNC2H1):c.12806T>C (p.Leu4269Ser) rs1555143920
NM_001377.3(DYNC2H1):c.12831G>T (p.Arg4277Ser) rs372878677
NM_001377.3(DYNC2H1):c.1360+2T>G
NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs) rs748906528
NM_001377.3(DYNC2H1):c.1661+1G>C
NM_001377.3(DYNC2H1):c.1662-2A>G
NM_001377.3(DYNC2H1):c.1760G>A (p.Arg587His)
NM_001377.3(DYNC2H1):c.1847_1852del (p.Ile616_Leu617del) rs773897318
NM_001377.3(DYNC2H1):c.193A>C (p.Thr65Pro) rs555339053
NM_001377.3(DYNC2H1):c.1949T>A (p.Ile650Asn) rs1555041449
NM_001377.3(DYNC2H1):c.195+1G>A
NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=) rs1178331074
NM_001377.3(DYNC2H1):c.195G>T (p.Thr65=) rs896105030
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.2225T>G (p.Met742Arg) rs774610143
NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp) rs1555043520
NM_001377.3(DYNC2H1):c.2346-1G>A
NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter) rs755883373
NM_001377.3(DYNC2H1):c.2579_2580delinsAA (p.Trp860Ter)
NM_001377.3(DYNC2H1):c.2612T>C (p.Leu871Pro)
NM_001377.3(DYNC2H1):c.2702+1G>A rs864622358
NM_001377.3(DYNC2H1):c.2703-2A>G
NM_001377.3(DYNC2H1):c.2946+1G>C
NM_001377.3(DYNC2H1):c.2947-2_2949del
NM_001377.3(DYNC2H1):c.3095del (p.Gln1032fs) rs1555049536
NM_001377.3(DYNC2H1):c.3302+1G>T
NM_001377.3(DYNC2H1):c.3458+1G>A
NM_001377.3(DYNC2H1):c.3574-2A>G
NM_001377.3(DYNC2H1):c.3638T>G (p.Leu1213Arg) rs886039812
NM_001377.3(DYNC2H1):c.367-2A>G rs1291197898
NM_001377.3(DYNC2H1):c.3744+1G>A
NM_001377.3(DYNC2H1):c.3745-1G>A
NM_001377.3(DYNC2H1):c.3847G>C (p.Asp1283His) rs1555050986
NM_001377.3(DYNC2H1):c.4162_4170dup (p.Val1388_Thr1390dup) rs1555051720
NM_001377.3(DYNC2H1):c.4219C>T (p.Gln1407Ter)
NM_001377.3(DYNC2H1):c.4268G>A (p.Arg1423His)
NM_001377.3(DYNC2H1):c.4325G>A (p.Gly1442Asp)
NM_001377.3(DYNC2H1):c.4379-1G>C rs1555052497
NM_001377.3(DYNC2H1):c.4418T>C (p.Ile1473Thr) rs1555052511
NM_001377.3(DYNC2H1):c.4458del (p.Phe1486fs) rs1555052524
NM_001377.3(DYNC2H1):c.4491+1G>A
NM_001377.3(DYNC2H1):c.4491+2T>C
NM_001377.3(DYNC2H1):c.4492-1G>A
NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr) rs1555053115
NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs) rs1565359085
NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val) rs901629870
NM_001377.3(DYNC2H1):c.4820T>A (p.Ile1607Asn) rs1555054771
NM_001377.3(DYNC2H1):c.4969-2A>G
NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter) rs755464335
NM_001377.3(DYNC2H1):c.5129T>A (p.Val1710Asp) rs777396565
NM_001377.3(DYNC2H1):c.5335-1G>A
NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) rs754919042
NM_001377.3(DYNC2H1):c.5558+1G>A
NM_001377.3(DYNC2H1):c.5558+2T>C rs762666243
NM_001377.3(DYNC2H1):c.5559-1G>C rs2134979684
NM_001377.3(DYNC2H1):c.5559-2A>G
NM_001377.3(DYNC2H1):c.5612del (p.Thr1871fs) rs1555056464
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val) rs1565368733
NM_001377.3(DYNC2H1):c.5875-2A>T
NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs) rs1380132788
NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala) rs137853035
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu) rs137853025
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val) rs963717773
NM_001377.3(DYNC2H1):c.6023T>C (p.Met2008Thr) rs2134994767
NM_001377.3(DYNC2H1):c.6035C>T (p.Ala2012Val)
NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His) rs1555057503
NM_001377.3(DYNC2H1):c.6139+2T>C
NM_001377.3(DYNC2H1):c.6161G>C (p.Cys2054Ser) rs1555057838
NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp) rs753662982
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp) rs1555057881
NM_001377.3(DYNC2H1):c.6347+1G>A rs1565371538
NM_001377.3(DYNC2H1):c.6381dup (p.Ser2128fs)
NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys) rs1332318318
NM_001377.3(DYNC2H1):c.6439G>T (p.Asp2147Tyr)
NM_001377.3(DYNC2H1):c.6477+1G>A rs756313208
NM_001377.3(DYNC2H1):c.6477G>A (p.Gln2159=)
NM_001377.3(DYNC2H1):c.6545G>A (p.Cys2182Tyr) rs780855765
NM_001377.3(DYNC2H1):c.6562T>C (p.Phe2188Leu) rs1555060411
NM_001377.3(DYNC2H1):c.6574C>T (p.Leu2192Phe) rs1243999036
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.6633+1G>A
NM_001377.3(DYNC2H1):c.6634-1G>C
NM_001377.3(DYNC2H1):c.6634-2A>G rs1555060940
NM_001377.3(DYNC2H1):c.6834G>T (p.Trp2278Cys) rs1384888093
NM_001377.3(DYNC2H1):c.6883T>C (p.Cys2295Arg) rs1555061228
NM_001377.3(DYNC2H1):c.6893+1G>A
NM_001377.3(DYNC2H1):c.6894-1G>A
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.7268C>A (p.Ser2423Tyr) rs1555062340
NM_001377.3(DYNC2H1):c.7276C>T (p.Arg2426Cys)
NM_001377.3(DYNC2H1):c.7438-2A>G rs1555063811
NM_001377.3(DYNC2H1):c.7525T>C (p.Tyr2509His) rs1386343205
NM_001377.3(DYNC2H1):c.7541-2A>G
NM_001377.3(DYNC2H1):c.7547C>G (p.Ser2516Ter)
NM_001377.3(DYNC2H1):c.7774_7782del (p.Leu2592_Pro2594del) rs1555066796
NM_001377.3(DYNC2H1):c.7967G>T (p.Arg2656Leu) rs200614421
NM_001377.3(DYNC2H1):c.7972G>C (p.Gly2658Arg) rs1268066804
NM_001377.3(DYNC2H1):c.8070C>G (p.Phe2690Leu) rs1214801816
NM_001377.3(DYNC2H1):c.8190G>T (p.Leu2730Phe) rs770800903
NM_001377.3(DYNC2H1):c.8283del (p.Phe2761fs) rs1862810311
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter) rs1437320571
NM_001377.3(DYNC2H1):c.8311+1G>A rs1555068270
NM_001377.3(DYNC2H1):c.8339T>C (p.Leu2780Ser) rs1565394086
NM_001377.3(DYNC2H1):c.8434del (p.Ser2812fs) rs1555068636
NM_001377.3(DYNC2H1):c.8484_8485del (p.Gly2829fs)
NM_001377.3(DYNC2H1):c.8590del (p.Ala2864fs) rs1555070451
NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro) rs1555071484
NM_001377.3(DYNC2H1):c.8769_8770del (p.Leu2924fs) rs1555071503
NM_001377.3(DYNC2H1):c.8947-2A>G
NM_001377.3(DYNC2H1):c.8951del (p.Pro2983_Leu2984insTer)
NM_001377.3(DYNC2H1):c.9010C>T (p.Arg3004Cys)
NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu) rs794727767
NM_001377.3(DYNC2H1):c.940T>C (p.Trp314Arg)
NM_001377.3(DYNC2H1):c.9440+4A>G
NM_001377.3(DYNC2H1):c.9710-2A>G rs1555077194
NM_001377.3(DYNC2H1):c.9760_9764del (p.Trp3253_Lys3254insTer) rs1218198013
NM_001377.3(DYNC2H1):c.9820A>C (p.Ser3274Arg) rs371932985
NM_001377.3(DYNC2H1):c.9845A>C (p.Asp3282Ala)
NM_001377.3(DYNC2H1):c.989G>A (p.Arg330His)
NM_001377.3(DYNC2H1):c.989G>T (p.Arg330Leu)
NM_001377.3(DYNC2H1):c.9918+1G>T rs772732648
NM_001377.3(DYNC2H1):c.9919-2A>C
NM_001377.3(DYNC2H1):c.9919-2A>T
NM_001377.3(DYNC2H1):c.999+1G>A
NM_001619.5(GRK2):c.1348_1349del (p.Ser450fs) rs2136504839
NM_001619.5(GRK2):c.555+1G>A rs2136501226
NM_002296.4(LBR):c.1174G>A (p.Gly392Arg) rs1236962991
NM_006531.5(IFT88):c.2087G>C (p.Arg696Pro) rs373832683
NM_014053.4(FLVCR1):c.87G>C (p.Ala29=) rs1558104145
NM_014055.4(IFT81):c.134T>C (p.Ile45Thr) rs1227213671
NM_014055.4(IFT81):c.1717-2A>G rs1868517084
NM_014055.4(IFT81):c.785T>G (p.Leu262Ter) rs576969206
NM_014714.4(IFT140):c.1009+1G>T
NM_014714.4(IFT140):c.1167del (p.Lys390fs) rs1085307074
NM_014714.4(IFT140):c.1359+1G>A rs2034739931
NM_014714.4(IFT140):c.1359_1359+3delinsAC rs2141816540
NM_014714.4(IFT140):c.146_147+2del rs2142099151
NM_014714.4(IFT140):c.147+2T>G
NM_014714.4(IFT140):c.148-2A>G rs775682083
NM_014714.4(IFT140):c.1525-1G>A rs2034013225
NM_014714.4(IFT140):c.1525-2_1525-1del
NM_014714.4(IFT140):c.1655_1656del
NM_014714.4(IFT140):c.2068-2A>G rs1489989834
NM_014714.4(IFT140):c.2200-1_2200delinsAG
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs) rs1415763185
NM_014714.4(IFT140):c.2400-1G>A
NM_014714.4(IFT140):c.2400-2A>G rs1555478654
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) rs1471379682
NM_014714.4(IFT140):c.2655del (p.Trp885fs) rs762111572
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer) rs2141179932
NM_014714.4(IFT140):c.2767_2768+2del rs769075694
NM_014714.4(IFT140):c.2864+2T>C
NM_014714.4(IFT140):c.2948del (p.Asp983fs) rs2141172226
NM_014714.4(IFT140):c.2997+1G>C
NM_014714.4(IFT140):c.2997+2T>C
NM_014714.4(IFT140):c.2998-2del rs2141171226
NM_014714.4(IFT140):c.3109C>T (p.Gln1037Ter) rs774547622
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs) rs765669703
NM_014714.4(IFT140):c.370-3_370-1delinsAA rs2035236903
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_014714.4(IFT140):c.811-2A>G
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_014714.4(IFT140):c.886G>T (p.Gly296Trp) rs574450870
NM_014714.4(IFT140):c.903-1G>A rs1567407044
NM_015650.4(TRAF3IP1):c.1358C>G (p.Ser453Cys) rs146820102
NM_015662.3(IFT172):c.1326-1G>A
NM_015662.3(IFT172):c.1411+2T>C
NM_015662.3(IFT172):c.1524+2_1524+3del rs769575051
NM_015662.3(IFT172):c.1693-1G>A
NM_015662.3(IFT172):c.184-2A>C rs2148559396
NM_015662.3(IFT172):c.2116-2A>G
NM_015662.3(IFT172):c.2521+1G>A
NM_015662.3(IFT172):c.2521+1G>T rs2148505406
NM_015662.3(IFT172):c.3111+1G>T
NM_015662.3(IFT172):c.336+2T>G
NM_015662.3(IFT172):c.3712-2A>T
NM_015662.3(IFT172):c.3822-2_3822-1del
NM_015662.3(IFT172):c.3952-1G>C rs2148479160
NM_015662.3(IFT172):c.402+2T>C
NM_015662.3(IFT172):c.4051-1G>A rs1665487115
NM_015662.3(IFT172):c.4311+1G>A rs2148477195
NM_015662.3(IFT172):c.4429-178_4436del
NM_015662.3(IFT172):c.4733A>G (p.Tyr1578Cys)
NM_015662.3(IFT172):c.4815+1G>A
NM_015662.3(IFT172):c.4815+2_4815+3del rs2148467424
NM_015662.3(IFT172):c.482+1G>A
NM_015662.3(IFT172):c.4914+1G>A
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter) rs1329856696
NM_015662.3(IFT172):c.5069-2A>G rs2148464837
NM_015662.3(IFT172):c.786-2A>G
NM_015662.3(IFT172):c.786-2A>T
NM_015662.3(IFT172):c.910-2A>G rs2148546998
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter) rs1037828930
NM_015693.4(INTU):c.1305dup (p.Asn436Ter) rs1729889650
NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys) rs76483206
NM_018051.5(DYNC2I1):c.1162del (p.Cys388fs) rs1554460624
NM_018051.5(DYNC2I1):c.2503_2505dup (p.Arg835dup) rs1554478948
NM_018051.5(DYNC2I1):c.772_775del (p.Glu258fs) rs1843823774
NM_018051.5(DYNC2I1):c.898C>T (p.Arg300Ter) rs780061154
NM_018051.5(DYNC2I1):c.899G>T (p.Arg300Leu) rs899172501
NM_020779.4(WDR35):c.1255+1G>C rs371669862
NM_020779.4(WDR35):c.1400G>A (p.Arg467Lys) rs1558342399
NM_020779.4(WDR35):c.1525-2A>T
NM_020779.4(WDR35):c.1846-30_1848del rs1553317813
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.2489A>T (p.Asp830Val) rs1553316926
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg) rs397515536
NM_020779.4(WDR35):c.570+2T>G
NM_020800.3(IFT80):c.1076+1G>A
NM_020800.3(IFT80):c.1152-1G>C rs777519235
NM_020800.3(IFT80):c.1380+2del rs2108240653
NM_020800.3(IFT80):c.1516+2T>C
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe) rs1553753582
NM_020800.3(IFT80):c.1664+1G>A
NM_020800.3(IFT80):c.1665-1del
NM_020800.3(IFT80):c.411dup (p.Met138fs) rs778324141
NM_020800.3(IFT80):c.440-2A>G rs1721846338
NM_020800.3(IFT80):c.487_490del (p.Leu163fs) rs1553764834
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn) rs372576954
NM_020800.3(IFT80):c.957+1G>A
NM_020800.3(IFT80):c.958-1G>T rs202051267
NM_022436.3(ABCG5):c.576del (p.Ile193fs)
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.1516+1G>A
NM_024753.5(TTC21B):c.1516+2T>G rs748598334
NM_024753.5(TTC21B):c.152-1G>A rs371396651
NM_024753.5(TTC21B):c.152-2A>G rs760214276
NM_024753.5(TTC21B):c.1900-1G>T
NM_024753.5(TTC21B):c.1900-2A>G
NM_024753.5(TTC21B):c.19_20insGCGGGTG (p.Lys7delinsSerGlyTer) rs759648976
NM_024753.5(TTC21B):c.2138+1G>T
NM_024753.5(TTC21B):c.2461+1G>A
NM_024753.5(TTC21B):c.2868+1G>T rs1685487857
NM_024753.5(TTC21B):c.2869-2A>G rs1553508246
NM_024753.5(TTC21B):c.3130_3131dup (p.His1045fs)
NM_024753.5(TTC21B):c.3263+1G>A rs1574070787
NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter) rs1685080096
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) rs759086770
NM_024753.5(TTC21B):c.3684+1G>A
NM_024753.5(TTC21B):c.711-2A>C rs1686972152
NM_024753.5(TTC21B):c.895-1G>A rs773008707
NM_024753.5(TTC21B):c.[2569G>A;3130_3131dup]
NM_024755.4(SLTM):c.2600C>A (p.Pro867His) rs1401798992
NM_025103.4(IFT74):c.-19-2025_120+884delinsTTA
NM_025132.4(WDR19):c.1357-2A>T rs1221444922
NM_025132.4(WDR19):c.1479+2T>C rs756329385
NM_025132.4(WDR19):c.1778-1G>A rs1730515128
NM_025132.4(WDR19):c.1778-2A>C rs1730514795
NM_025132.4(WDR19):c.1983-2A>C
NM_025132.4(WDR19):c.2364-2A>G
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs) rs1421636172
NM_025132.4(WDR19):c.2646-2A>G rs890152763
NM_025132.4(WDR19):c.2786G>C (p.Arg929Pro) rs201685269
NM_025132.4(WDR19):c.3184-2A>G rs1020915921
NM_025132.4(WDR19):c.3304_3358+36del
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.3483+1G>A
NM_025132.4(WDR19):c.3483+1G>C rs2109497413
NM_025132.4(WDR19):c.3484-2A>C rs1553918403
NM_025132.4(WDR19):c.3716+1G>A rs1191056931
NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr) rs745603321
NM_025132.4(WDR19):c.475G>A (p.Asp159Asn) rs1451698951
NM_025132.4(WDR19):c.716+1G>C
NM_025132.4(WDR19):c.716+2del rs1727827349
NM_025132.4(WDR19):c.717-1G>C rs2109300967
NM_025132.4(WDR19):c.746T>C (p.Phe249Ser) rs1553905326
NM_025132.4(WDR19):c.891-1_891delinsAT rs2109322692
NM_025132.4(WDR19):c.961+2T>C rs1728876351
NM_031934.6(RAB34):c.254T>C (p.Ile85Thr)
NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)
NM_052844.4(DYNC2I2):c.1060A>G (p.Thr354Ala) rs1554771066
NM_052844.4(DYNC2I2):c.1103_1104del (p.Glu368fs) rs759150616
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs) rs753802842
NM_052844.4(DYNC2I2):c.1340_1341delinsTA (p.Arg447Leu) rs1860309810
NM_052844.4(DYNC2I2):c.1418_1419del (p.Thr473fs) rs755570414
NM_052844.4(DYNC2I2):c.1567_1582del (p.Glu523fs) rs1554770453
NM_052844.4(DYNC2I2):c.546-1_547del
NM_052844.4(DYNC2I2):c.629del (p.Pro210fs) rs2132146546
NM_052844.4(DYNC2I2):c.935T>C (p.Phe312Ser) rs1554771175
NM_147127.5(EVC2):c.1005+1G>A
NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter)
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1145+2del
NM_147127.5(EVC2):c.1146-2A>T
NM_147127.5(EVC2):c.1170_1171delinsC (p.Ala391fs) rs1553840713
NM_147127.5(EVC2):c.1186G>T (p.Glu396Ter)
NM_147127.5(EVC2):c.1261_1262insTATACACATCTGTGATC (p.Ser421fs)
NM_147127.5(EVC2):c.1292_1296del (p.Val431fs)
NM_147127.5(EVC2):c.1313T>A (p.Leu438Ter)
NM_147127.5(EVC2):c.1313del (p.Leu438fs)
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1463del (p.Gly488fs)
NM_147127.5(EVC2):c.1470+1G>C rs1577194652
NM_147127.5(EVC2):c.1470+2T>C
NM_147127.5(EVC2):c.1471-1G>C rs1553837446
NM_147127.5(EVC2):c.1471-2168_1835del
NM_147127.5(EVC2):c.1511del (p.Gly504fs)
NM_147127.5(EVC2):c.1551_1552insTTTCT (p.Gln518fs)
NM_147127.5(EVC2):c.1552delinsGAGACAGT (p.Gln518fs)
NM_147127.5(EVC2):c.1680_1681del (p.Lys560fs)
NM_147127.5(EVC2):c.1710+1G>A rs2108851279
NM_147127.5(EVC2):c.1710+2T>C rs2108851273
NM_147127.5(EVC2):c.1711-1G>A rs1553836169
NM_147127.5(EVC2):c.1852delinsTCTTT (p.Ala618fs)
NM_147127.5(EVC2):c.1872_1873delinsA (p.Gln625fs)
NM_147127.5(EVC2):c.1887-1G>A rs1490912913
NM_147127.5(EVC2):c.1896C>G (p.Tyr632Ter)
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.1997dup (p.Leu667fs)
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.2005C>T (p.Gln669Ter)
NM_147127.5(EVC2):c.202_211dup (p.Pro71fs) rs1553855074
NM_147127.5(EVC2):c.2046+1G>A rs762947212
NM_147127.5(EVC2):c.2046+1G>C rs762947212
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.204_210dup (p.Pro71fs)
NM_147127.5(EVC2):c.2053del (p.Glu685fs)
NM_147127.5(EVC2):c.2122_2125delinsAGA (p.His708fs)
NM_147127.5(EVC2):c.2219delinsTTTCT (p.Thr740fs)
NM_147127.5(EVC2):c.222_228+21del rs1484464278
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2394_2395del (p.Asp799fs)
NM_147127.5(EVC2):c.2501+1G>T
NM_147127.5(EVC2):c.257_260del (p.Val86fs)
NM_147127.5(EVC2):c.2706+1G>A rs2108833043
NM_147127.5(EVC2):c.2707-1G>A
NM_147127.5(EVC2):c.2707-1G>T rs749251178
NM_147127.5(EVC2):c.2737A>T (p.Lys913Ter)
NM_147127.5(EVC2):c.2764A>T (p.Lys922Ter)
NM_147127.5(EVC2):c.2829+2T>C
NM_147127.5(EVC2):c.2829+2T>G
NM_147127.5(EVC2):c.2830-1G>A rs1553818428
NM_147127.5(EVC2):c.2830-1G>T rs1553818428
NM_147127.5(EVC2):c.2842_2848del (p.Leu948fs)
NM_147127.5(EVC2):c.2851G>T (p.Glu951Ter)
NM_147127.5(EVC2):c.2855_2858delinsCACTCA (p.Arg952fs)
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
NM_147127.5(EVC2):c.2878G>T (p.Glu960Ter)
NM_147127.5(EVC2):c.3043G>T (p.Glu1015Ter)
NM_147127.5(EVC2):c.3057+1G>A rs1307502841
NM_147127.5(EVC2):c.3058-1G>C
NM_147127.5(EVC2):c.3058-1G>T
NM_147127.5(EVC2):c.3058-2A>G rs760066386
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.5(EVC2):c.3169_3182del (p.Ile1057fs)
NM_147127.5(EVC2):c.316A>T (p.Lys106Ter)
NM_147127.5(EVC2):c.3272+1G>T
NM_147127.5(EVC2):c.3273-2A>C rs2108777040
NM_147127.5(EVC2):c.3273-2del rs768380281
NM_147127.5(EVC2):c.3279_3282del (p.Glu1094fs)
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.3411del (p.Thr1138fs)
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs) rs778793911
NM_147127.5(EVC2):c.3459_3460del (p.Gln1154fs)
NM_147127.5(EVC2):c.3535C>T (p.Gln1179Ter)
NM_147127.5(EVC2):c.3558-2A>G
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.3660-2A>G rs1553811863
NM_147127.5(EVC2):c.380T>A (p.Leu127Ter) rs2151736638
NM_147127.5(EVC2):c.437_438del (p.Ile146fs)
NM_147127.5(EVC2):c.450+1G>A rs1447633595
NM_147127.5(EVC2):c.450+1G>C
NM_147127.5(EVC2):c.450+1del rs1553852469
NM_147127.5(EVC2):c.450+2T>G
NM_147127.5(EVC2):c.451-1_452del rs1721107398
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.466del (p.Arg156fs)
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.520-2A>T
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.636_637delinsT (p.Thr213fs)
NM_147127.5(EVC2):c.711_717del (p.Asp238fs)
NM_147127.5(EVC2):c.750_751delinsA (p.Gly251fs)
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.775_781del (p.Leu259fs)
NM_147127.5(EVC2):c.816+2T>A rs1294715119
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.817-1G>T
NM_147127.5(EVC2):c.817-2A>G rs1553849894
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.870+1G>A rs2151724043
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.916delinsGACGA (p.Phe306fs)
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_147127.5(EVC2):c.961del (p.Val321fs)
NM_152766.5(TMEM256):c.244_265del (p.Phe82fs) rs886039795
NM_153717.3(EVC):c.-16_20del (p.Met1_Ala7del) rs1445771901
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1068_1069del (p.Leu357fs)
NM_153717.3(EVC):c.1081_1083delinsA (p.Gln361fs)
NM_153717.3(EVC):c.1098+1G>A
NM_153717.3(EVC):c.1099-1G>A
NM_153717.3(EVC):c.1099-2A>C
NM_153717.3(EVC):c.1113del (p.Thr372fs) rs2152076090
NM_153717.3(EVC):c.1128_1132del (p.His377fs)
NM_153717.3(EVC):c.1136_1563+515del
NM_153717.3(EVC):c.1148_1152del (p.Glu383fs)
NM_153717.3(EVC):c.1158_1159insACTGTCTCTTATA (p.Leu387fs)
NM_153717.3(EVC):c.1212_1216del (p.Glu405fs)
NM_153717.3(EVC):c.1284_1287del (p.Phe429fs)
NM_153717.3(EVC):c.1290G>A (p.Trp430Ter)
NM_153717.3(EVC):c.1304_1307dup (p.Phe436fs)
NM_153717.3(EVC):c.134G>A (p.Trp45Ter) rs1553857995
NM_153717.3(EVC):c.1361_1362delinsT (p.His454fs)
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.13_14insCTCA (p.Gly5fs)
NM_153717.3(EVC):c.1409del (p.Gln470fs)
NM_153717.3(EVC):c.1465-3_1472del rs1300178432
NM_153717.3(EVC):c.1473dup (p.Glu492Ter) rs1553876813
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.153_174+42del rs1723019796
NM_153717.3(EVC):c.1572del (p.Phe525fs)
NM_153717.3(EVC):c.1620_1621del (p.Gln541fs)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1750del (p.Gln584fs) rs1736000365
NM_153717.3(EVC):c.1765del (p.Gln589fs)
NM_153717.3(EVC):c.1776+2T>C
NM_153717.3(EVC):c.1803del (p.Ser602fs)
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992
NM_153717.3(EVC):c.1880_1881insGA (p.Glu628fs)
NM_153717.3(EVC):c.1886+1G>C rs753679094
NM_153717.3(EVC):c.1886+2T>G rs1713228964
NM_153717.3(EVC):c.1887-2A>T
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1A>G (p.Met1Val)
NM_153717.3(EVC):c.2026G>T (p.Glu676Ter)
NM_153717.3(EVC):c.2041G>T (p.Glu681Ter)
NM_153717.3(EVC):c.2097+1G>A
NM_153717.3(EVC):c.2097+1G>T rs1553891368
NM_153717.3(EVC):c.2097+2del rs2152340942
NM_153717.3(EVC):c.2098-1G>C rs773019082
NM_153717.3(EVC):c.2098-2A>G rs1714398710
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2176dup (p.Leu726fs) rs146475474
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
NM_153717.3(EVC):c.228_234del (p.Ser77fs)
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2436_2437del (p.Lys813fs)
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2449+2T>C
NM_153717.3(EVC):c.2450-1G>A rs1715585498
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.2561+1G>A rs1553894457
NM_153717.3(EVC):c.2562-3_2584del rs1577663625
NM_153717.3(EVC):c.2668del (p.Gln890fs) rs1553895755
NM_153717.3(EVC):c.2677_2688+7del rs2152387946
NM_153717.3(EVC):c.2688+1G>C rs1553895776
NM_153717.3(EVC):c.2688+2T>G
NM_153717.3(EVC):c.26_36del (p.Lys9fs)
NM_153717.3(EVC):c.26del (p.Lys9fs)
NM_153717.3(EVC):c.2782+1del rs1169539647
NM_153717.3(EVC):c.29_30insA (p.Ser10fs)
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.2T>C (p.Met1Thr)
NM_153717.3(EVC):c.300+1G>T
NM_153717.3(EVC):c.301-1G>A rs1363547577
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.37_40del (p.Arg13fs)
NM_153717.3(EVC):c.37del (p.Arg13fs)
NM_153717.3(EVC):c.384G>T (p.Arg128=) rs1553865346
NM_153717.3(EVC):c.385-1G>A
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_153717.3(EVC):c.39_40del (p.Leu14fs)
NM_153717.3(EVC):c.3_4insTATAAGAGACA (p.Ala2fs)
NM_153717.3(EVC):c.40_41insACTGTCTCTTA (p.Leu14fs)
NM_153717.3(EVC):c.43_44insGTATAAGAGACAG (p.Leu15fs)
NM_153717.3(EVC):c.48_55del (p.Gly17fs)
NM_153717.3(EVC):c.54_61del (p.Asp19fs)
NM_153717.3(EVC):c.56_174+42del
NM_153717.3(EVC):c.59_60insA (p.Leu21fs)
NM_153717.3(EVC):c.60_61insACTGTCTCTTATA (p.Leu21fs)
NM_153717.3(EVC):c.617+1G>A rs1726841476
NM_153717.3(EVC):c.617+2T>A
NM_153717.3(EVC):c.636T>A (p.Cys212Ter)
NM_153717.3(EVC):c.64_79del (p.Arg22fs)
NM_153717.3(EVC):c.650_651del (p.His217fs)
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.703-1G>A rs1485152854
NM_153717.3(EVC):c.703-1G>C rs1485152854
NM_153717.3(EVC):c.708del (p.Phe236fs)
NM_153717.3(EVC):c.720del (p.Phe240fs) rs1553871764
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.787_788delinsA (p.Ser263fs)
NM_153717.3(EVC):c.801+1G>T
NM_153717.3(EVC):c.801+2T>C
NM_153717.3(EVC):c.801+2T>G rs1553871866
NM_153717.3(EVC):c.802-1G>C rs150814290
NM_153717.3(EVC):c.802-2A>G
NM_153717.3(EVC):c.840_846del (p.Ser281fs)
NM_153717.3(EVC):c.857C>A (p.Ser286Ter)
NM_153717.3(EVC):c.8_9insTGCTGCTGAGTGT (p.Gly4fs)
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.910del (p.Arg304fs)
NM_153717.3(EVC):c.939+1G>A rs1553873138
NM_153717.3(EVC):c.939+1G>C rs1553873138
NM_153717.3(EVC):c.940-150T>G rs576076928
NM_153717.3(EVC):c.985_986insATCTT (p.Val329fs)
NM_153717.3(EVC):c.999_1000insAACATTC (p.Cys334fs)

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