ClinVar Miner

List of variants reported as pathogenic for Jeune syndrome by Invitae

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1109
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00043
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro) rs200460601 0.00035
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter) rs367810877 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.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919 0.00012
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977 0.00009
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052 0.00008
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_001199397.3(NEK1):c.481C>T (p.Arg161Ter) rs202115635 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.1377G>A (p.Trp459Ter) rs140039128 0.00006
NM_014714.4(IFT140):c.2399+1G>T rs376586707 0.00006
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900 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.5808del (p.Glu1935_Tyr1936insTer) rs775759098 0.00005
NM_020779.4(WDR35):c.994C>T (p.Arg332Ter) rs199840434 0.00005
NM_024753.5(TTC21B):c.2913dup (p.Val972fs) rs867205119 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
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.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter) rs1257804746 0.00004
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) rs387907192 0.00004
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter) rs139021548 0.00004
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter) rs771232897 0.00004
NM_024753.5(TTC21B):c.2209G>T (p.Glu737Ter) rs748663904 0.00004
NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs) rs1353172956 0.00004
NM_025132.4(WDR19):c.3565+1G>A rs587777352 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs) rs1307758243 0.00003
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=) rs780520735 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.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.5972T>A (p.Met1991Lys) rs1202784860 0.00003
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg) rs755505546 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.1727G>A (p.Arg576Gln) rs373111085 0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter) rs185089786 0.00003
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) rs748820015 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.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter) rs371575563 0.00002
NM_001199397.3(NEK1):c.214+1G>A rs1049502301 0.00002
NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter) rs1064793157 0.00002
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) rs540255320 0.00002
NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter) rs373763986 0.00002
NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter) rs776003330 0.00002
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897 0.00002
NM_001375405.1(CEP120):c.2323C>T (p.Gln775Ter) rs759125480 0.00002
NM_001377.3(DYNC2H1):c.10024C>T (p.Arg3342Ter) rs751891969 0.00002
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725 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.3719T>C (p.Ile1240Thr) rs137853028 0.00002
NM_001377.3(DYNC2H1):c.5547del (p.Phe1849fs) rs771003300 0.00002
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032 0.00002
NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter) rs1206753537 0.00002
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_018051.5(DYNC2I1):c.2246C>T (p.Thr749Met) rs587777065 0.00002
NM_020779.4(WDR35):c.136C>T (p.Gln46Ter) rs767788330 0.00002
NM_020779.4(WDR35):c.1694_1695dup (p.Thr566Ter) rs766096320 0.00002
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=) rs746128772 0.00002
NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter) rs369159801 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_025132.4(WDR19):c.3112C>T (p.Arg1038Ter) rs748174246 0.00002
NM_052844.4(DYNC2I2):c.472C>T (p.Gln158Ter) rs587777097 0.00002
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter) rs779707723 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424 0.00002
NM_001199397.3(NEK1):c.1129C>T (p.Gln377Ter) rs1482234746 0.00001
NM_001199397.3(NEK1):c.2991_2992insG (p.Ser998fs) rs763310804 0.00001
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) rs762081862 0.00001
NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter) rs749475936 0.00001
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs) rs1410766981 0.00001
NM_001329943.3(KIAA0586):c.3097dup (p.Ala1033fs) rs1364954371 0.00001
NM_001329943.3(KIAA0586):c.3700del (p.Val1234fs) rs1253807820 0.00001
NM_001329943.3(KIAA0586):c.4495+3777del rs1237632090 0.00001
NM_001329943.3(KIAA0586):c.4495+3785A>T rs942756021 0.00001
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) rs562139820 0.00001
NM_001377.3(DYNC2H1):c.10729C>T (p.Arg3577Ter) rs373536938 0.00001
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) rs137853030 0.00001
NM_001377.3(DYNC2H1):c.2235G>A (p.Trp745Ter) rs1309577378 0.00001
NM_001377.3(DYNC2H1):c.2343C>G (p.Tyr781Ter) rs1266078341 0.00001
NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter) rs373335226 0.00001
NM_001377.3(DYNC2H1):c.3076C>T (p.Gln1026Ter) rs765224364 0.00001
NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter) rs755305630 0.00001
NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter) rs772321133 0.00001
NM_001377.3(DYNC2H1):c.739C>T (p.Arg247Ter) rs561778796 0.00001
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873 0.00001
NM_001377.3(DYNC2H1):c.767-2A>G rs762873763 0.00001
NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter) rs747857715 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.1501C>T (p.Arg501Ter) rs1424099914 0.00001
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter) rs770731272 0.00001
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter) rs1432688490 0.00001
NM_014714.4(IFT140):c.409C>T (p.Arg137Ter) rs762817061 0.00001
NM_014714.4(IFT140):c.634+5G>A rs1323647622 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.2567del (p.Leu856fs) rs1357839545 0.00001
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419 0.00001
NM_015662.3(IFT172):c.2866C>T (p.Gln956Ter) rs144450109 0.00001
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter) rs999731005 0.00001
NM_015662.3(IFT172):c.3907C>T (p.Arg1303Ter) rs587777087 0.00001
NM_015662.3(IFT172):c.3944G>A (p.Trp1315Ter) rs778898472 0.00001
NM_015662.3(IFT172):c.4508G>A (p.Trp1503Ter) rs1665288663 0.00001
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter) rs150246251 0.00001
NM_015662.3(IFT172):c.4597dup (p.Thr1533fs) rs1183354903 0.00001
NM_018051.5(DYNC2I1):c.1321C>T (p.Arg441Ter) rs766663693 0.00001
NM_018051.5(DYNC2I1):c.1924C>T (p.Arg642Ter) rs752109819 0.00001
NM_018051.5(DYNC2I1):c.682C>T (p.Arg228Ter) rs752596216 0.00001
NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter) rs767751856 0.00001
NM_020779.4(WDR35):c.1468del (p.Gln490fs) rs886044119 0.00001
NM_020800.3(IFT80):c.1882C>T (p.Arg628Ter) rs781436346 0.00001
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) rs779134983 0.00001
NM_024753.5(TTC21B):c.2818C>T (p.Gln940Ter) rs1489728717 0.00001
NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter) rs777162250 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.275T>G (p.Leu92Ter) rs926405916 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_025132.4(WDR19):c.388C>T (p.Arg130Ter) rs778039192 0.00001
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser) rs587777096 0.00001
NM_052844.4(DYNC2I2):c.1480C>T (p.Gln494Ter) rs751323441 0.00001
NM_147127.5(EVC2):c.1303C>T (p.Gln435Ter) rs1369020144 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1713dup (p.Asn572fs) rs1553836165 0.00001
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045 0.00001
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) rs781623802 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter) rs1282621867 0.00001
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter) rs1715453232 0.00001
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) rs146538906 0.00001
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter) rs144167138 0.00001
NM_147127.5(EVC2):c.3523_3527dup (p.Gln1179fs) rs1560126707 0.00001
NM_147127.5(EVC2):c.3762del (p.Val1255fs) rs1577093258 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.644G>A (p.Trp215Ter) rs1720937470 0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_147127.5(EVC2):c.832A>T (p.Lys278Ter) rs942590430 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_153717.3(EVC):c.1021C>T (p.Gln341Ter) rs1729663828 0.00001
NM_153717.3(EVC):c.1324C>T (p.Gln442Ter) rs753152908 0.00001
NM_153717.3(EVC):c.1387dup (p.Thr463fs) rs1317662938 0.00001
NM_153717.3(EVC):c.1489C>T (p.Gln497Ter) rs1460597472 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.1868T>C (p.Leu623Pro) rs1373632260 0.00001
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter) rs774949132 0.00001
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter) rs1714132239 0.00001
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358 0.00001
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter) rs374752679 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.773dup (p.Tyr258Ter) rs748201094 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_153717.3(EVC):c.918C>A (p.Tyr306Ter) rs1560323242 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NC_000002.11:g.(?_165946660)_(167168266_?)del
NC_000002.11:g.(?_166744769)_(166747518_?)del
NC_000002.11:g.(?_20153575)_(20153759_?)del
NC_000002.11:g.(?_20188906)_(20189063_?)del
NC_000002.11:g.(?_27667299)_(27677547_?)del
NC_000002.11:g.(?_27693775)_(27695249_?)del
NC_000002.12:g.(?_27462701)_(27463181_?)del
NC_000002.12:g.165943342del
NC_000003.11:g.(?_159986181)_(160021797_?)del
NC_000003.11:g.(?_160073781)_(160083960_?)del
NC_000003.11:g.(?_160073781)_(160099532_?)del
NC_000003.11:g.(?_160083811)_(160099532_?)del
NC_000003.12:g.(?_160299237)_(160319939_?)del
NC_000003.12:g.160307782_160307783insACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAACATTACGAACC
NC_000004.11:g.(?_169433478)_(170523781_?)del
NC_000004.11:g.(?_2200251)_(5710240_?)del
NC_000004.11:g.(?_39184178)_(39184203_?)del
NC_000004.11:g.(?_39184178)_(39191421_?)del
NC_000004.11:g.(?_39216201)_(39218880_?)del
NC_000004.11:g.(?_39218734)_(39219745_?)del
NC_000004.11:g.(?_39257448)_(39257600_?)del
NC_000004.11:g.(?_5458281)_(5586509_?)del
NC_000004.11:g.(?_5563146)_(5711294_?)del
NC_000004.11:g.(?_5564565)_(5578191_?)del
NC_000004.11:g.(?_5564565)_(5586587_?)del
NC_000004.11:g.(?_5564575)_(5570387_?)del
NC_000004.11:g.(?_5564575)_(5758109_?)del
NC_000004.11:g.(?_5565510)_(5811251_?)del
NC_000004.11:g.(?_5576402)_(5576509_?)del
NC_000004.11:g.(?_5577947)_(5586597_?)del
NC_000004.11:g.(?_5617129)_(5627655_?)del
NC_000004.11:g.(?_5617139)_(5812774_?)del
NC_000004.11:g.(?_5620185)_(5642585_?)del
NC_000004.11:g.(?_5620185)_(5699394_?)del
NC_000004.11:g.(?_5624244)_(5624738_?)del
NC_000004.11:g.(?_5630276)_(5633769_?)del
NC_000004.11:g.(?_5642221)_(5642585_?)del
NC_000004.11:g.(?_5682967)_(5721120_?)del
NC_000004.11:g.(?_5682977)_(5735172_?)del
NC_000004.11:g.(?_5690874)_(5696238_?)del
NC_000004.11:g.(?_5696052)_(5696238_?)del
NC_000004.11:g.(?_5699300)_(5758109_?)del
NC_000004.11:g.(?_5709993)_(5710240_?)del
NC_000004.11:g.(?_5710003)_(5735172_?)del
NC_000004.11:g.(?_5710003)_(5750043_?)del
NC_000004.11:g.(?_5711924)_(5817031_?)del
NC_000004.11:g.(?_5731014)_(5758109_?)del
NC_000004.11:g.(?_5746911)_(5758109_?)del
NC_000004.11:g.(?_5749725)_(5755670_?)del
NC_000004.11:g.(?_5754553)_(5755670_?)del
NC_000004.11:g.(?_5754553)_(5758099_?)del
NC_000004.11:g.(?_5754553)_(5785501_?)del
NC_000004.11:g.(?_5785269)_(5812774_?)del
NC_000004.11:g.(?_5798739)_(5798969_?)del
NC_000004.11:g.(?_5803667)_(5806578_?)del
NC_000004.11:g.(?_5809918)_(5811348_?)del
NC_000004.12:g.(?_5562838)_(5758135_?)del
NC_000004.12:g.(?_5562848)_(5565369_?)del
NC_000004.12:g.(?_5568434)_(5568650_?)del
NC_000004.12:g.(?_5689147)_(5689353_?)del
NC_000004.12:g.(?_5729297)_(5758135_?)del
NC_000004.12:g.(?_5797002)_(5797252_?)del
NC_000004.12:g.5719249_5719252del
NC_000004.12:g.5729307del
NC_000005.9:g.(?_122682213)_(122758692_?)del
NC_000007.13:g.(?_158649427)_(158738470_?)del
NC_000007.13:g.(?_158677235)_(158677330_?)del
NC_000009.12:g.(?_128632127)_(128640939_?)del
NC_000011.9:g.(?_101323686)_(103349981_?)del
NC_000011.9:g.(?_103036607)_(103036797_?)del
NC_000011.9:g.(?_103039464)_(103041817_?)del
NC_000011.9:g.(?_103055605)_(103063013_?)del
NC_000011.9:g.(?_103090624)_(103092902_?)del
NC_000011.9:g.(?_103112236)_(103116123_?)del
NC_000011.9:g.(?_103115960)_(103116123_?)del
NC_000011.9:g.(?_103123994)_(103124197_?)del
NC_000011.9:g.(?_103126124)_(103128500_?)del
NC_000011.9:g.(?_103128360)_(103282954_?)del
NC_000011.9:g.(?_103151057)_(103349981_?)del
NC_000011.9:g.(?_103173802)_(103349981_?)del
NC_000011.9:g.(?_103191738)_(103339453_?)del
NC_000011.9:g.(?_103228951)_(103349981_?)del
NC_000011.9:g.(?_103270371)_(103306780_?)del
NC_000011.9:g.(?_103270371)_(103349981_?)del
NC_000011.9:g.(?_103306651)_(103349981_?)del
NC_000011.9:g.(?_103325894)_(103349981_?)del
NC_000011.9:g.(?_103349803)_(103349981_?)del
NC_000014.8:g.(?_58711639)_(59014694_?)del
NC_000014.8:g.(?_58924457)_(58927898_?)del
NC_000014.8:g.(?_58926541)_(58927898_?)del
NC_000014.8:g.(?_58938897)_(58941535_?)del
NC_000014.8:g.(?_58975253)_(58975447_?)del
NC_000014.9:g.(?_58443934)_(58450766_?)del
NC_000016.10:g.1602592del rs2035852852
NC_000016.9:g.(?_1568197)_(1570829_?)dup
NC_000016.9:g.(?_1574533)_(1576817_?)del
NC_000016.9:g.(?_1607916)_(1608155_?)del
NC_000016.9:g.(?_1608740)_(1652441_?)del
NC_000016.9:g.(?_1618198)_(1618355_?)del
NC_000016.9:g.(?_1621388)_(1621555_?)del
NC_000016.9:g.(?_1633295)_(1637325_?)del
NC_000016.9:g.(?_256302)_(1657267_?)del
NM_001006657.2(WDR35):c.1210dup (p.Glu404fs) rs1327489348
NM_001080463.1(DYNC2H1):c.7141delG rs1160036887
NM_001080463.2(DYNC2H1):c.9839G>A (p.Trp3280Ter) rs1565423740
NM_001168364.2(KRTCAP3):c.*5+455_*5+465del
NM_001199397.3(NEK1):c.1097_1098del (p.Arg366fs)
NM_001199397.3(NEK1):c.1177C>T (p.Gln393Ter)
NM_001199397.3(NEK1):c.1198del (p.Arg400fs)
NM_001199397.3(NEK1):c.1395G>A (p.Trp465Ter)
NM_001199397.3(NEK1):c.1583_1584dup (p.Glu529Ter) rs1758763118
NM_001199397.3(NEK1):c.1606G>T (p.Glu536Ter)
NM_001199397.3(NEK1):c.1945_1951del (p.Lys648_Glu649insTer)
NM_001199397.3(NEK1):c.1984dup (p.Glu662fs) rs2149690411
NM_001199397.3(NEK1):c.2010_2011del (p.Leu670fs)
NM_001199397.3(NEK1):c.2089C>T (p.Gln697Ter) rs2149558070
NM_001199397.3(NEK1):c.2190del (p.Asn731fs) rs746591648
NM_001199397.3(NEK1):c.2282_2283dup (p.Asp762fs)
NM_001199397.3(NEK1):c.2650_2651insCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTACAATGTA (p.Cys883_Ile884insThrCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysValGlnCys)
NM_001199397.3(NEK1):c.2972_2973del (p.Ile991fs) rs2111354717
NM_001199397.3(NEK1):c.3581C>A (p.Ser1194Ter)
NM_001199397.3(NEK1):c.3726del (p.Asp1243fs)
NM_001199397.3(NEK1):c.602del (p.His201fs) rs2150079083
NM_001199397.3(NEK1):c.934del (p.Ala312fs) rs2150034070
NM_001329943.3(KIAA0586):c.1075_1076del (p.Lys359fs) rs2140706563
NM_001329943.3(KIAA0586):c.1085del (p.Asn362fs)
NM_001329943.3(KIAA0586):c.1093del (p.Glu365fs) rs1232900431
NM_001329943.3(KIAA0586):c.1193del (p.Ser398fs)
NM_001329943.3(KIAA0586):c.126T>A (p.Cys42Ter) rs1301378192
NM_001329943.3(KIAA0586):c.12dup (p.Glu5Ter)
NM_001329943.3(KIAA0586):c.1342_1345del (p.Glu448fs)
NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs)
NM_001329943.3(KIAA0586):c.1466_1476del (p.Lys489fs) rs2140844892
NM_001329943.3(KIAA0586):c.1645del (p.Ala549fs)
NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter)
NM_001329943.3(KIAA0586):c.1667dup (p.Arg557fs) rs2140873534
NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter) rs2040187420
NM_001329943.3(KIAA0586):c.1743dup (p.Ile582fs)
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter) rs1566827747
NM_001329943.3(KIAA0586):c.1872del (p.Glu625fs) rs2140875258
NM_001329943.3(KIAA0586):c.1892dup (p.Leu631fs)
NM_001329943.3(KIAA0586):c.1927_1928del (p.Met643fs)
NM_001329943.3(KIAA0586):c.1935del (p.Val646fs) rs2140886312
NM_001329943.3(KIAA0586):c.2047_2048del (p.Glu683fs) rs2140887842
NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter)
NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter)
NM_001329943.3(KIAA0586):c.2405del (p.Lys802fs)
NM_001329943.3(KIAA0586):c.25G>T (p.Glu9Ter) rs2140372917
NM_001329943.3(KIAA0586):c.2800del (p.Thr934fs)
NM_001329943.3(KIAA0586):c.2810del (p.Asn937fs)
NM_001329943.3(KIAA0586):c.3173del (p.Pro1058fs)
NM_001329943.3(KIAA0586):c.3211A>T (p.Lys1071Ter)
NM_001329943.3(KIAA0586):c.3341dup (p.Thr1115fs)
NM_001329943.3(KIAA0586):c.3353del (p.Pro1118fs) rs2141193077
NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter)
NM_001329943.3(KIAA0586):c.3638del (p.Pro1213fs) rs2141202895
NM_001329943.3(KIAA0586):c.3718_3719del (p.Leu1240fs)
NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs)
NM_001329943.3(KIAA0586):c.3804C>G (p.Tyr1268Ter)
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs) rs745949846
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) rs745949846
NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter)
NM_001329943.3(KIAA0586):c.4077del (p.Leu1360fs) rs762932867
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs) rs867342730
NM_001329943.3(KIAA0586):c.411-1371G>A rs2038350104
NM_001329943.3(KIAA0586):c.411-1455_411-1454insGG
NM_001329943.3(KIAA0586):c.4208_4209del (p.Met1403fs)
NM_001329943.3(KIAA0586):c.4225del (p.Glu1409fs) rs2141430525
NM_001329943.3(KIAA0586):c.4321C>T (p.Gln1441Ter)
NM_001329943.3(KIAA0586):c.4350dup (p.Lys1451Ter)
NM_001329943.3(KIAA0586):c.4373C>G (p.Ser1458Ter)
NM_001329943.3(KIAA0586):c.4377_4378del (p.Ser1460fs)
NM_001329943.3(KIAA0586):c.4420C>T (p.Gln1474Ter)
NM_001329943.3(KIAA0586):c.4456C>T (p.Gln1486Ter) rs2140098022
NM_001329943.3(KIAA0586):c.4495+3755del rs2140128017
NM_001329943.3(KIAA0586):c.4495+3767A>T rs2140128191
NM_001329943.3(KIAA0586):c.465del (p.Gly156fs)
NM_001329943.3(KIAA0586):c.622dup (p.Thr208fs) rs2140565674
NM_001329943.3(KIAA0586):c.653_663del (p.Asp218fs)
NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter) rs376338487
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs) rs1203751352
NM_001329943.3(KIAA0586):c.938del (p.Tyr313fs) rs2140664007
NM_001329943.3(KIAA0586):c.939dup (p.Asn314Ter)
NM_001329943.3(KIAA0586):c.961+1G>A
NM_001375405.1(CEP120):c.1028dup (p.Asp344fs) rs2127071022
NM_001375405.1(CEP120):c.1397del (p.Leu466fs) rs781434539
NM_001375405.1(CEP120):c.1684dup (p.Thr562fs) rs2127055990
NM_001375405.1(CEP120):c.2164C>T (p.Arg722Ter)
NM_001375405.1(CEP120):c.2206dup (p.Glu736fs) rs2127034914
NM_001375405.1(CEP120):c.2377A>T (p.Lys793Ter)
NM_001375405.1(CEP120):c.2449C>T (p.Gln817Ter)
NM_001375405.1(CEP120):c.2743C>T (p.Gln915Ter)
NM_001375405.1(CEP120):c.2917C>T (p.Arg973Ter)
NM_001377.3(DYNC2H1):c.10039C>T (p.Gln3347Ter)
NM_001377.3(DYNC2H1):c.10042+1G>A
NM_001377.3(DYNC2H1):c.10109del (p.Leu3370fs) rs431905500
NM_001377.3(DYNC2H1):c.10144del (p.Asp3382fs)
NM_001377.3(DYNC2H1):c.10196T>A (p.Leu3399Ter)
NM_001377.3(DYNC2H1):c.10252C>T (p.Gln3418Ter)
NM_001377.3(DYNC2H1):c.10268del (p.Leu3423fs)
NM_001377.3(DYNC2H1):c.10270C>T (p.Gln3424Ter)
NM_001377.3(DYNC2H1):c.10294C>T (p.Gln3432Ter)
NM_001377.3(DYNC2H1):c.10333dup (p.Ala3445fs)
NM_001377.3(DYNC2H1):c.10342C>T (p.Gln3448Ter)
NM_001377.3(DYNC2H1):c.10429G>T (p.Glu3477Ter)
NM_001377.3(DYNC2H1):c.10645dup (p.Ser3549fs)
NM_001377.3(DYNC2H1):c.10690_10693del (p.Phe3564fs)
NM_001377.3(DYNC2H1):c.10771del (p.Thr3591fs)
NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter) rs764769351
NM_001377.3(DYNC2H1):c.10798_10799del (p.Met3600fs)
NM_001377.3(DYNC2H1):c.10822C>T (p.Gln3608Ter)
NM_001377.3(DYNC2H1):c.10828dup (p.Ile3610fs)
NM_001377.3(DYNC2H1):c.10837C>T (p.Gln3613Ter)
NM_001377.3(DYNC2H1):c.10864C>T (p.Arg3622Ter)
NM_001377.3(DYNC2H1):c.10918del (p.Leu3640fs) rs759649136
NM_001377.3(DYNC2H1):c.11230G>T (p.Glu3744Ter)
NM_001377.3(DYNC2H1):c.11293C>T (p.Gln3765Ter)
NM_001377.3(DYNC2H1):c.11364G>A (p.Trp3788Ter)
NM_001377.3(DYNC2H1):c.1141_1150del (p.Trp381fs) rs1555038664
NM_001377.3(DYNC2H1):c.11446_11447del (p.Asn3816fs)
NM_001377.3(DYNC2H1):c.11606G>A (p.Trp3869Ter)
NM_001377.3(DYNC2H1):c.11621del (p.Cys3874fs)
NM_001377.3(DYNC2H1):c.11636del (p.Asn3879fs)
NM_001377.3(DYNC2H1):c.11659_11660del (p.Lys3887fs)
NM_001377.3(DYNC2H1):c.11667T>G (p.Tyr3889Ter) rs1937856263
NM_001377.3(DYNC2H1):c.11697dup (p.Tyr3900fs)
NM_001377.3(DYNC2H1):c.11713_11716del (p.Arg3905fs) rs1453448143
NM_001377.3(DYNC2H1):c.11762T>A (p.Leu3921Ter)
NM_001377.3(DYNC2H1):c.11895dup (p.Pro3966fs)
NM_001377.3(DYNC2H1):c.11915del (p.Pro3972fs) rs2135437962
NM_001377.3(DYNC2H1):c.1195dup (p.Ile399fs)
NM_001377.3(DYNC2H1):c.12169del (p.Ile4057fs)
NM_001377.3(DYNC2H1):c.12199C>T (p.Arg4067Ter)
NM_001377.3(DYNC2H1):c.1231C>T (p.Gln411Ter)
NM_001377.3(DYNC2H1):c.12393G>A (p.Trp4131Ter)
NM_001377.3(DYNC2H1):c.12415C>T (p.Gln4139Ter)
NM_001377.3(DYNC2H1):c.1243C>T (p.Gln415Ter)
NM_001377.3(DYNC2H1):c.12462G>A (p.Trp4154Ter)
NM_001377.3(DYNC2H1):c.12466_12469del (p.Asp4156fs) rs766816050
NM_001377.3(DYNC2H1):c.12477_12489del (p.Glu4159fs)
NM_001377.3(DYNC2H1):c.12480dup (p.Gln4161fs)
NM_001377.3(DYNC2H1):c.12512C>A (p.Ser4171Ter)
NM_001377.3(DYNC2H1):c.12763C>T (p.Gln4255Ter) rs2135849050
NM_001377.3(DYNC2H1):c.1355_1358del (p.Ile452fs) rs1223907858
NM_001377.3(DYNC2H1):c.1366C>T (p.Arg456Ter)
NM_001377.3(DYNC2H1):c.1408_1418del (p.Ala470fs)
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399
NM_001377.3(DYNC2H1):c.1614G>A (p.Trp538Ter)
NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs) rs748906528
NM_001377.3(DYNC2H1):c.1678C>T (p.Arg560Ter)
NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly) rs864622357
NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter) rs1260978141
NM_001377.3(DYNC2H1):c.1864del (p.His622fs)
NM_001377.3(DYNC2H1):c.1903C>T (p.Gln635Ter)
NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=) rs1178331074
NM_001377.3(DYNC2H1):c.1966G>T (p.Gly656Ter)
NM_001377.3(DYNC2H1):c.2008G>T (p.Glu670Ter) rs750682546
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.2077A>T (p.Arg693Ter)
NM_001377.3(DYNC2H1):c.2089del (p.Thr697fs)
NM_001377.3(DYNC2H1):c.2140C>T (p.Gln714Ter) rs2134773913
NM_001377.3(DYNC2H1):c.2203C>T (p.Gln735Ter)
NM_001377.3(DYNC2H1):c.2247G>A (p.Trp749Ter)
NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter) rs755883373
NM_001377.3(DYNC2H1):c.2549T>A (p.Leu850Ter)
NM_001377.3(DYNC2H1):c.2692C>T (p.Arg898Ter)
NM_001377.3(DYNC2H1):c.2702+1G>A rs864622358
NM_001377.3(DYNC2H1):c.2736C>A (p.Cys912Ter)
NM_001377.3(DYNC2H1):c.2770C>T (p.Gln924Ter)
NM_001377.3(DYNC2H1):c.2818+1G>C rs1591316134
NM_001377.3(DYNC2H1):c.2981del (p.Asn994fs)
NM_001377.3(DYNC2H1):c.298_299del (p.Met100fs)
NM_001377.3(DYNC2H1):c.2990del (p.Leu997fs)
NM_001377.3(DYNC2H1):c.2992C>T (p.Arg998Ter)
NM_001377.3(DYNC2H1):c.3145C>T (p.Gln1049Ter)
NM_001377.3(DYNC2H1):c.3159del (p.Lys1053fs)
NM_001377.3(DYNC2H1):c.3262dup (p.Ile1088fs) rs767206815
NM_001377.3(DYNC2H1):c.3443_3446dup (p.Trp1149Ter)
NM_001377.3(DYNC2H1):c.3498G>A (p.Trp1166Ter)
NM_001377.3(DYNC2H1):c.3509T>G (p.Leu1170Ter)
NM_001377.3(DYNC2H1):c.3523del (p.Glu1175fs)
NM_001377.3(DYNC2H1):c.3793_3794insA (p.Arg1265fs)
NM_001377.3(DYNC2H1):c.3812del (p.Gly1271fs)
NM_001377.3(DYNC2H1):c.3859C>T (p.Arg1287Ter)
NM_001377.3(DYNC2H1):c.3984G>A (p.Trp1328Ter)
NM_001377.3(DYNC2H1):c.4009G>T (p.Glu1337Ter)
NM_001377.3(DYNC2H1):c.4018C>T (p.Gln1340Ter)
NM_001377.3(DYNC2H1):c.4098dup (p.Arg1367fs)
NM_001377.3(DYNC2H1):c.4219C>T (p.Gln1407Ter)
NM_001377.3(DYNC2H1):c.4241C>G (p.Ser1414Ter)
NM_001377.3(DYNC2H1):c.4256dup (p.Leu1419fs)
NM_001377.3(DYNC2H1):c.4328del (p.Gln1443fs) rs2134908680
NM_001377.3(DYNC2H1):c.4395_4399del (p.Cys1465_Asp1467delinsTer)
NM_001377.3(DYNC2H1):c.4458del (p.Phe1486fs) rs1555052524
NM_001377.3(DYNC2H1):c.4472_4473insGGCCGGGCGCGGTGGCTCTCGCCTGTAGTCCCAGCTCATAGGGACGAACCGGCGAGCGTCGCGTCCGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATAAAGTTCC (p.Pro1491_Leu1492insAlaGlyArgGlyGlySerArgLeuTer)
NM_001377.3(DYNC2H1):c.448C>T (p.Arg150Ter)
NM_001377.3(DYNC2H1):c.4496G>A (p.Trp1499Ter)
NM_001377.3(DYNC2H1):c.4537C>T (p.Gln1513Ter)
NM_001377.3(DYNC2H1):c.4625_4627del (p.Ala1542del)
NM_001377.3(DYNC2H1):c.4678_4679insGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATCATAGTC (p.Ser1559_Leu1560insArgArgSerGlnAspGlyArgIleGlyThrAlaProValTyrSerSerGlnArgGluArgArgArgArgArgXaaXaaXaaXaaLysLysLysLysLysLysLysAspHisSer)
NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs) rs1565359085
NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val) rs901629870
NM_001377.3(DYNC2H1):c.4724del (p.Thr1575fs) rs1243716539
NM_001377.3(DYNC2H1):c.4870_4871del (p.Trp1624fs)
NM_001377.3(DYNC2H1):c.4909G>T (p.Asp1637Tyr)
NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter) rs755464335
NM_001377.3(DYNC2H1):c.5047del (p.Gly1684fs)
NM_001377.3(DYNC2H1):c.5125C>T (p.Gln1709Ter)
NM_001377.3(DYNC2H1):c.5291dup (p.Leu1765fs)
NM_001377.3(DYNC2H1):c.5304_5305del (p.His1768fs)
NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) rs754919042
NM_001377.3(DYNC2H1):c.5507_5508del (p.Lys1836fs)
NM_001377.3(DYNC2H1):c.5527A>T (p.Arg1843Ter)
NM_001377.3(DYNC2H1):c.5643_5646del (p.Arg1881fs)
NM_001377.3(DYNC2H1):c.5682_5683del (p.His1896fs) rs767846762
NM_001377.3(DYNC2H1):c.5797_5798del (p.Glu1933fs) rs1565368793
NM_001377.3(DYNC2H1):c.5846del (p.Glu1949fs) rs794727595
NM_001377.3(DYNC2H1):c.5882dup (p.Ala1962fs)
NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs) rs1380132788
NM_001377.3(DYNC2H1):c.6043C>T (p.Arg2015Ter)
NM_001377.3(DYNC2H1):c.6099_6102dup (p.Thr2035fs)
NM_001377.3(DYNC2H1):c.6140-5A>G
NM_001377.3(DYNC2H1):c.6149C>G (p.Ser2050Ter)
NM_001377.3(DYNC2H1):c.6220C>T (p.Arg2074Ter)
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.6386_6393del (p.Ser2128_Trp2129insTer)
NM_001377.3(DYNC2H1):c.6485_6486del (p.Tyr2162fs)
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.6645G>A (p.Trp2215Ter)
NM_001377.3(DYNC2H1):c.6649C>T (p.Arg2217Ter)
NM_001377.3(DYNC2H1):c.6703del (p.Arg2235fs)
NM_001377.3(DYNC2H1):c.6709C>T (p.Arg2237Ter)
NM_001377.3(DYNC2H1):c.6751del (p.Ala2251fs)
NM_001377.3(DYNC2H1):c.6790C>T (p.Gln2264Ter)
NM_001377.3(DYNC2H1):c.6808C>T (p.Arg2270Ter)
NM_001377.3(DYNC2H1):c.6875dup (p.Glu2293fs)
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.6973C>T (p.Arg2325Ter)
NM_001377.3(DYNC2H1):c.7053_7054del (p.Cys2351_Glu2352delinsTer)
NM_001377.3(DYNC2H1):c.7057del (p.Arg2353fs)
NM_001377.3(DYNC2H1):c.7079del (p.Asp2360fs)
NM_001377.3(DYNC2H1):c.7130del (p.Phe2377fs)
NM_001377.3(DYNC2H1):c.7156G>T (p.Gly2386Ter)
NM_001377.3(DYNC2H1):c.7243_7244insTT (p.His2415fs)
NM_001377.3(DYNC2H1):c.7284T>A (p.Cys2428Ter)
NM_001377.3(DYNC2H1):c.7343del (p.Pro2448fs)
NM_001377.3(DYNC2H1):c.7380G>A (p.Trp2460Ter) rs921573478
NM_001377.3(DYNC2H1):c.7435C>T (p.Gln2479Ter) rs200989423
NM_001377.3(DYNC2H1):c.7527T>A (p.Tyr2509Ter)
NM_001377.3(DYNC2H1):c.7527T>G (p.Tyr2509Ter)
NM_001377.3(DYNC2H1):c.7630del (p.Glu2544fs)
NM_001377.3(DYNC2H1):c.773C>A (p.Ser258Ter)
NM_001377.3(DYNC2H1):c.7741_7744del (p.Asn2581fs)
NM_001377.3(DYNC2H1):c.7786G>T (p.Gly2596Ter)
NM_001377.3(DYNC2H1):c.7858C>T (p.Arg2620Ter)
NM_001377.3(DYNC2H1):c.7894G>T (p.Glu2632Ter)
NM_001377.3(DYNC2H1):c.7903G>T (p.Glu2635Ter)
NM_001377.3(DYNC2H1):c.7909_7910del (p.Met2637fs)
NM_001377.3(DYNC2H1):c.7923_7926del (p.Asp2641fs)
NM_001377.3(DYNC2H1):c.8145_8146delinsAT (p.Tyr2715_Gln2716delinsTer) rs1565390180
NM_001377.3(DYNC2H1):c.8227G>T (p.Glu2743Ter)
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter) rs1437320571
NM_001377.3(DYNC2H1):c.8517del (p.Glu2840fs)
NM_001377.3(DYNC2H1):c.8534del (p.Asn2845fs) rs431905507
NM_001377.3(DYNC2H1):c.8534dup (p.Asn2845fs)
NM_001377.3(DYNC2H1):c.8557A>T (p.Lys2853Ter)
NM_001377.3(DYNC2H1):c.8590del (p.Ala2864fs) rs1555070451
NM_001377.3(DYNC2H1):c.8611C>T (p.Arg2871Ter)
NM_001377.3(DYNC2H1):c.8669T>A (p.Leu2890Ter)
NM_001377.3(DYNC2H1):c.8769_8770del (p.Leu2924fs) rs1555071503
NM_001377.3(DYNC2H1):c.8909_8910del (p.Arg2970fs)
NM_001377.3(DYNC2H1):c.9167C>G (p.Ser3056Ter)
NM_001377.3(DYNC2H1):c.9292C>T (p.Gln3098Ter)
NM_001377.3(DYNC2H1):c.9310G>T (p.Glu3104Ter)
NM_001377.3(DYNC2H1):c.9382del (p.Arg3128fs)
NM_001377.3(DYNC2H1):c.9421del (p.Val3141fs)
NM_001377.3(DYNC2H1):c.9436_9439del (p.Glu3146fs)
NM_001377.3(DYNC2H1):c.9493del (p.Ala3165fs)
NM_001377.3(DYNC2H1):c.9760_9764del (p.Trp3253_Lys3254insTer) rs1218198013
NM_001377.3(DYNC2H1):c.9823C>T (p.Arg3275Ter) rs2135225617
NM_001377.3(DYNC2H1):c.9870G>A (p.Trp3290Ter)
NM_001377.3(DYNC2H1):c.9882_9894del (p.Leu3295fs)
NM_001377.3(DYNC2H1):c.9893C>A (p.Ser3298Ter)
NM_001377.3(DYNC2H1):c.9956del (p.Arg3319fs)
NM_001377.3(DYNC2H1):c.9992del (p.Gly3331fs)
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) rs1166261279
NM_014714.4(IFT140):c.1073_1083del (p.Leu358fs)
NM_014714.4(IFT140):c.1114del (p.Gln372fs)
NM_014714.4(IFT140):c.1346del (p.Val449fs)
NM_014714.4(IFT140):c.1380del (p.Asn460fs) rs431905522
NM_014714.4(IFT140):c.1525-2A>T rs2141634877
NM_014714.4(IFT140):c.157_160del (p.Val53fs)
NM_014714.4(IFT140):c.1597_1598insA (p.Phe533fs)
NM_014714.4(IFT140):c.169del (p.His57fs)
NM_014714.4(IFT140):c.1795dup (p.Ile599fs) rs2141570994
NM_014714.4(IFT140):c.1992_2005dup (p.Thr669fs) rs2141541431
NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter) rs2141540660
NM_014714.4(IFT140):c.217_218del (p.Arg73fs) rs2035847573
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs) rs1415763185
NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter) rs1555486629
NM_014714.4(IFT140):c.2292del (p.Leu765fs)
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) rs1471379682
NM_014714.4(IFT140):c.2411G>A (p.Trp804Ter)
NM_014714.4(IFT140):c.2443C>T (p.Gln815Ter) rs2141185231
NM_014714.4(IFT140):c.2483del (p.Gly828fs)
NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter) rs777399400
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer) rs2141179932
NM_014714.4(IFT140):c.2677G>T (p.Glu893Ter) rs372746686
NM_014714.4(IFT140):c.2682delinsAA (p.His894fs)
NM_014714.4(IFT140):c.2934C>A (p.Tyr978Ter) rs777862012
NM_014714.4(IFT140):c.2944_2948delinsGGGG (p.Arg982fs) rs2040631802
NM_014714.4(IFT140):c.2987del (p.Asn996fs)
NM_014714.4(IFT140):c.2T>C (p.Met1Thr)
NM_014714.4(IFT140):c.3060C>G (p.Tyr1020Ter)
NM_014714.4(IFT140):c.3109C>T (p.Gln1037Ter) rs774547622
NM_014714.4(IFT140):c.3141+1G>T rs764770536
NM_014714.4(IFT140):c.3192del (p.Glu1065fs) rs1567327347
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs) rs766084603
NM_014714.4(IFT140):c.3313C>T (p.Gln1105Ter)
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs) rs765669703
NM_014714.4(IFT140):c.3489del (p.Asn1163fs) rs2141148172
NM_014714.4(IFT140):c.3502G>T (p.Glu1168Ter)
NM_014714.4(IFT140):c.3640C>T (p.Gln1214Ter) rs2141147087
NM_014714.4(IFT140):c.3672_3673del (p.Leu1225fs) rs754400742
NM_014714.4(IFT140):c.3691_3692del (p.Thr1231fs) rs2141145188
NM_014714.4(IFT140):c.3727C>T (p.Gln1243Ter) rs2141144931
NM_014714.4(IFT140):c.378del (p.Leu127fs)
NM_014714.4(IFT140):c.3891C>A (p.Tyr1297Ter)
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.3981del (p.Arg1328fs) rs1431530916
NM_014714.4(IFT140):c.4041-2A>G
NM_014714.4(IFT140):c.482dup (p.Pro162fs) rs763737398
NM_014714.4(IFT140):c.490G>T (p.Glu164Ter) rs559314300
NM_014714.4(IFT140):c.54del (p.Ser19fs) rs2142100542
NM_014714.4(IFT140):c.565del (p.Ser189fs)
NM_014714.4(IFT140):c.889G>T (p.Glu297Ter)
NM_014714.4(IFT140):c.910del (p.Asp304fs)
NM_014714.4(IFT140):c.919C>T (p.Arg307Ter) rs1307461796
NM_015662.3(IFT172):c.1036C>T (p.Arg346Ter) rs201862538
NM_015662.3(IFT172):c.1078del (p.Glu359_Val360insTer) rs1453282096
NM_015662.3(IFT172):c.1100_1103dup (p.Tyr368Ter)
NM_015662.3(IFT172):c.1115dup (p.His372fs) rs2148544061
NM_015662.3(IFT172):c.1209del (p.Phe403fs) rs2148542989
NM_015662.3(IFT172):c.1315dup (p.His439fs)
NM_015662.3(IFT172):c.1412-1G>C
NM_015662.3(IFT172):c.1412-2A>G
NM_015662.3(IFT172):c.148A>T (p.Arg50Ter) rs1668686361
NM_015662.3(IFT172):c.1555A>T (p.Lys519Ter)
NM_015662.3(IFT172):c.1671_1672dup (p.Val558fs) rs587777083
NM_015662.3(IFT172):c.1871_1872del (p.Thr624fs)
NM_015662.3(IFT172):c.189_192del (p.Lys65fs)
NM_015662.3(IFT172):c.1972C>T (p.Arg658Ter)
NM_015662.3(IFT172):c.2078del (p.Lys693fs) rs1444591972
NM_015662.3(IFT172):c.2146C>T (p.Gln716Ter) rs2148507566
NM_015662.3(IFT172):c.2158del (p.Arg720fs) rs587777086
NM_015662.3(IFT172):c.2209G>T (p.Glu737Ter)
NM_015662.3(IFT172):c.2224_2236dup (p.Trp746Ter)
NM_015662.3(IFT172):c.2233C>T (p.Gln745Ter)
NM_015662.3(IFT172):c.2584dup (p.Asp862fs)
NM_015662.3(IFT172):c.2646C>A (p.Cys882Ter) rs1309394469
NM_015662.3(IFT172):c.2760dup (p.His921fs)
NM_015662.3(IFT172):c.3130C>T (p.Arg1044Ter)
NM_015662.3(IFT172):c.3426del (p.Glu1143fs)
NM_015662.3(IFT172):c.3562C>T (p.Gln1188Ter)
NM_015662.3(IFT172):c.3628dup (p.Ala1210fs)
NM_015662.3(IFT172):c.3648dup (p.Gln1217fs)
NM_015662.3(IFT172):c.3850C>T (p.Arg1284Ter) rs1366937730
NM_015662.3(IFT172):c.3914_3915del (p.Ser1305fs)
NM_015662.3(IFT172):c.3949A>T (p.Lys1317Ter) rs2148485970
NM_015662.3(IFT172):c.4194dup (p.Phe1399fs) rs2148477695
NM_015662.3(IFT172):c.4493_4494del (p.Glu1498fs)
NM_015662.3(IFT172):c.455_462dup (p.Val155fs)
NM_015662.3(IFT172):c.4642C>T (p.Gln1548Ter)
NM_015662.3(IFT172):c.4680_4683del (p.Ser1561fs) rs1665095139
NM_015662.3(IFT172):c.4701C>A (p.His1567Gln) rs786205855
NM_015662.3(IFT172):c.4789dup (p.Leu1597fs) rs2148467517
NM_015662.3(IFT172):c.4853del (p.Ser1618fs) rs2148467030
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs) rs587777078
NM_015662.3(IFT172):c.4936C>T (p.Arg1646Ter)
NM_015662.3(IFT172):c.4966C>T (p.Gln1656Ter)
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter) rs1329856696
NM_015662.3(IFT172):c.691del (p.Thr231fs)
NM_015662.3(IFT172):c.811C>T (p.Arg271Ter) rs1250676888
NM_015662.3(IFT172):c.875del (p.Leu292fs)
NM_015662.3(IFT172):c.952C>T (p.Arg318Ter)
NM_015662.3(IFT172):c.978dup (p.Glu327Ter)
NM_018051.5(DYNC2I1):c.2378dup (p.Gly794fs)
NM_018051.5(DYNC2I1):c.378_381del (p.Asp126fs)
NM_018051.5(DYNC2I1):c.527_528del (p.Asp175_Ser176insTer)
NM_018051.5(DYNC2I1):c.562C>T (p.Arg188Ter) rs750540944
NM_018051.5(DYNC2I1):c.712_715del (p.Glu238fs)
NM_018051.5(DYNC2I1):c.778C>T (p.Arg260Ter)
NM_018051.5(DYNC2I1):c.975dup (p.Asp326fs) rs1844679510
NM_020779.4(WDR35):c.1322G>A (p.Trp441Ter)
NM_020779.4(WDR35):c.1554C>G (p.Tyr518Ter)
NM_020779.4(WDR35):c.1609C>T (p.Gln537Ter)
NM_020779.4(WDR35):c.171_178del (p.Ser59fs)
NM_020779.4(WDR35):c.1954_1955insAAAC (p.Leu652fs) rs2103406171
NM_020779.4(WDR35):c.2638dup (p.Thr880fs) rs2103399754
NM_020779.4(WDR35):c.2701G>T (p.Glu901Ter)
NM_020779.4(WDR35):c.2976del (p.Leu993fs) rs1490771127
NM_020779.4(WDR35):c.297del (p.Met99fs) rs867715686
NM_020800.3(IFT80):c.1066del (p.Tyr356fs) rs1386720978
NM_020800.3(IFT80):c.1187del (p.Leu396fs) rs1716383227
NM_020800.3(IFT80):c.120G>A (p.Trp40Ter)
NM_020800.3(IFT80):c.128T>G (p.Leu43Ter)
NM_020800.3(IFT80):c.1388del (p.Ile463fs) rs2108234807
NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter)
NM_020800.3(IFT80):c.1866dup (p.Met623fs)
NM_020800.3(IFT80):c.1961del (p.Asn654fs) rs779179710
NM_020800.3(IFT80):c.1961dup (p.Asn654fs)
NM_020800.3(IFT80):c.1989_1990del (p.Ile665fs)
NM_020800.3(IFT80):c.2085del (p.Tyr696fs)
NM_020800.3(IFT80):c.2094G>A (p.Trp698Ter)
NM_020800.3(IFT80):c.2119A>T (p.Lys707Ter)
NM_020800.3(IFT80):c.2124C>G (p.Tyr708Ter)
NM_020800.3(IFT80):c.225_226insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACAAACC (p.Gln76fs) rs2108404264
NM_020800.3(IFT80):c.28G>T (p.Glu10Ter)
NM_020800.3(IFT80):c.411dup (p.Met138fs) rs778324141
NM_020800.3(IFT80):c.464G>A (p.Trp155Ter)
NM_020800.3(IFT80):c.551G>A (p.Trp184Ter) rs1182330004
NM_020800.3(IFT80):c.629_630del (p.Asp209_Cys210insTer) rs1307708371
NM_020800.3(IFT80):c.639+1del rs2108362424
NM_020800.3(IFT80):c.701C>G (p.Ser234Ter)
NM_020800.3(IFT80):c.710G>A (p.Trp237Ter) rs201858128
NM_020800.3(IFT80):c.847C>T (p.Gln283Ter)
NM_020800.3(IFT80):c.869dup (p.Asn290fs) rs773858865
NM_020800.3(IFT80):c.898_899del (p.Glu300fs) rs1450731316
NM_020800.3(IFT80):c.951del (p.Met318fs)
NM_020800.3(IFT80):c.972_973insNNNNNNNNTTTTTTTT (p.Asn325delinsXaaXaaXaaPhePheTer) rs2108277143
NM_024753.5(TTC21B):c.1001del (p.Met334fs)
NM_024753.5(TTC21B):c.1007_1025del (p.Leu336fs) rs2105344608
NM_024753.5(TTC21B):c.1087G>T (p.Gly363Ter)
NM_024753.5(TTC21B):c.1088-1G>A
NM_024753.5(TTC21B):c.10C>T (p.Gln4Ter)
NM_024753.5(TTC21B):c.1126_1127insGT (p.Asp376fs)
NM_024753.5(TTC21B):c.1138C>T (p.Gln380Ter) rs749794837
NM_024753.5(TTC21B):c.1162C>T (p.Gln388Ter)
NM_024753.5(TTC21B):c.1263_1266dup (p.Leu423fs) rs2105343139
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.1346T>G (p.Leu449Ter) rs769816345
NM_024753.5(TTC21B):c.140del (p.Thr47fs)
NM_024753.5(TTC21B):c.1448_1458del (p.Thr483fs)
NM_024753.5(TTC21B):c.1479_1482del (p.Thr494fs)
NM_024753.5(TTC21B):c.1575T>G (p.Tyr525Ter) rs199559023
NM_024753.5(TTC21B):c.1725_1726del (p.Lys575fs)
NM_024753.5(TTC21B):c.1840del (p.Ser614fs)
NM_024753.5(TTC21B):c.1860_1863del (p.Phe620fs)
NM_024753.5(TTC21B):c.1942dup (p.Ser648fs) rs2105324384
NM_024753.5(TTC21B):c.1947_1948del (p.Thr650fs)
NM_024753.5(TTC21B):c.2070del (p.Arg691fs)
NM_024753.5(TTC21B):c.2297_2298del (p.Leu766fs)
NM_024753.5(TTC21B):c.2337T>G (p.Tyr779Ter) rs1559053862
NM_024753.5(TTC21B):c.244_248del (p.Lys82fs)
NM_024753.5(TTC21B):c.2455G>T (p.Glu819Ter)
NM_024753.5(TTC21B):c.2521del (p.Tyr841fs)
NM_024753.5(TTC21B):c.2572C>T (p.Arg858Ter) rs895624584
NM_024753.5(TTC21B):c.2614C>T (p.Gln872Ter)
NM_024753.5(TTC21B):c.2635C>T (p.Gln879Ter)
NM_024753.5(TTC21B):c.264_267dupTAGA rs748514860
NM_024753.5(TTC21B):c.2692C>T (p.Arg898Ter) rs1685569880
NM_024753.5(TTC21B):c.2979_2982del (p.Asp994fs)
NM_024753.5(TTC21B):c.3044del (p.Arg1015fs) rs2105292027
NM_024753.5(TTC21B):c.3045del (p.Asn1016fs) rs2105292022
NM_024753.5(TTC21B):c.3076C>T (p.Gln1026Ter) rs2105291990
NM_024753.5(TTC21B):c.3112G>T (p.Glu1038Ter) rs2105291727
NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter)
NM_024753.5(TTC21B):c.3144del (p.Ala1049fs) rs2105291679
NM_024753.5(TTC21B):c.3164G>A (p.Trp1055Ter) rs772612775
NM_024753.5(TTC21B):c.3380dup (p.Asn1127fs)
NM_024753.5(TTC21B):c.3383_3384del (p.Tyr1128fs) rs1553506530
NM_024753.5(TTC21B):c.3533dup (p.Asn1178fs)
NM_024753.5(TTC21B):c.3592_3596del (p.Lys1198fs)
NM_024753.5(TTC21B):c.3641_3657del (p.Asp1214fs)
NM_024753.5(TTC21B):c.36C>G (p.Tyr12Ter)
NM_024753.5(TTC21B):c.3702T>G (p.Tyr1234Ter)
NM_024753.5(TTC21B):c.3731_3732del (p.Glu1244fs)
NM_024753.5(TTC21B):c.433del (p.His145fs)
NM_024753.5(TTC21B):c.459del (p.Thr154fs)
NM_024753.5(TTC21B):c.913del (p.Ile305fs)
NM_024753.5(TTC21B):c.996C>A (p.Tyr332Ter)
NM_025132.4(WDR19):c.1080del (p.Ile361fs) rs1553907440
NM_025132.4(WDR19):c.142dup (p.Arg48fs) rs1577823005
NM_025132.4(WDR19):c.1534C>T (p.Arg512Ter)
NM_025132.4(WDR19):c.1777+1del
NM_025132.4(WDR19):c.1867_1868del (p.Gln623fs)
NM_025132.4(WDR19):c.1911_1914del (p.Phe637fs) rs1730535406
NM_025132.4(WDR19):c.2138_2139del (p.Ile713fs)
NM_025132.4(WDR19):c.2276G>A (p.Trp759Ter)
NM_025132.4(WDR19):c.2277G>A (p.Trp759Ter)
NM_025132.4(WDR19):c.2337del (p.Glu780fs)
NM_025132.4(WDR19):c.234C>A (p.Cys78Ter) rs1232301082
NM_025132.4(WDR19):c.2351_2361del (p.Gln784fs) rs2109377653
NM_025132.4(WDR19):c.2481dup (p.Arg828fs) rs2109405851
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2589T>G (p.Tyr863Ter)
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs) rs1421636172
NM_025132.4(WDR19):c.2771G>A (p.Trp924Ter)
NM_025132.4(WDR19):c.2772G>A (p.Trp924Ter)
NM_025132.4(WDR19):c.2797del (p.Asp933fs)
NM_025132.4(WDR19):c.2972del (p.Asn991fs)
NM_025132.4(WDR19):c.3184-2A>C rs1020915921
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter) rs387906981
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.3457del (p.Ile1153fs)
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs) rs747165335
NM_025132.4(WDR19):c.422_423del (p.Arg141fs)
NM_025132.4(WDR19):c.441G>A (p.Trp147Ter) rs1273811425
NM_025132.4(WDR19):c.526C>T (p.Gln176Ter)
NM_025132.4(WDR19):c.632dup (p.Leu211fs) rs2109299952
NM_025132.4(WDR19):c.641dup (p.Leu214fs) rs587777348
NM_025132.4(WDR19):c.697_701dup (p.Val235fs)
NM_025132.4(WDR19):c.749C>G (p.Ser250Ter)
NM_025132.4(WDR19):c.812del (p.Ala271fs)
NM_025132.4(WDR19):c.826_827del (p.Lys275_Asp276insTer)
NM_052844.4(DYNC2I2):c.1103_1104del (p.Glu368fs) rs759150616
NM_052844.4(DYNC2I2):c.1117_1118del (p.Arg373fs)
NM_052844.4(DYNC2I2):c.1171dup (p.His391fs)
NM_052844.4(DYNC2I2):c.1198_1201dup (p.Ser401fs) rs1860335967
NM_052844.4(DYNC2I2):c.1294C>T (p.Gln432Ter)
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs) rs753802842
NM_052844.4(DYNC2I2):c.1313dup (p.Phe439fs)
NM_052844.4(DYNC2I2):c.1315_1318del (p.Phe439fs) rs760226714
NM_052844.4(DYNC2I2):c.1315_1318dup (p.Ala440fs)
NM_052844.4(DYNC2I2):c.1340G>A (p.Arg447Gln) rs587777094
NM_052844.4(DYNC2I2):c.1372+1G>A
NM_052844.4(DYNC2I2):c.1461_1464dup (p.Glu489fs)
NM_052844.4(DYNC2I2):c.1509_1515del (p.Gln504_Gly505insTer)
NM_052844.4(DYNC2I2):c.1531C>T (p.Gln511Ter)
NM_052844.4(DYNC2I2):c.245_246del (p.His82fs)
NM_052844.4(DYNC2I2):c.256del (p.Gln86fs)
NM_052844.4(DYNC2I2):c.26del (p.Pro9fs) rs763975565
NM_052844.4(DYNC2I2):c.347_348del (p.Glu116fs) rs2132155831
NM_052844.4(DYNC2I2):c.361C>T (p.Arg121Ter) rs371188707
NM_052844.4(DYNC2I2):c.447_448del (p.Thr151fs)
NM_052844.4(DYNC2I2):c.51_64dup (p.Ala22fs)
NM_052844.4(DYNC2I2):c.629del (p.Pro210fs) rs2132146546
NM_052844.4(DYNC2I2):c.955del (p.Leu319fs)
NM_147127.5(EVC2):c.104C>G (p.Ser35Ter) rs2151750076
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1082_1095del (p.Asn361fs)
NM_147127.5(EVC2):c.1090del (p.Gln363_Met364insTer)
NM_147127.5(EVC2):c.1108del (p.Ser370fs) rs2108895910
NM_147127.5(EVC2):c.1132C>T (p.Gln378Ter)
NM_147127.5(EVC2):c.1163del (p.Leu388fs)
NM_147127.5(EVC2):c.116G>A (p.Trp39Ter) rs1345487794
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter) rs2151750059
NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter) rs372215987
NM_147127.5(EVC2):c.1332del (p.Glu445fs)
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)
NM_147127.5(EVC2):c.1341_1342insT (p.Asp448Ter) rs1717259479
NM_147127.5(EVC2):c.1410C>G (p.Tyr470Ter) rs2108863739
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1453_1459dup (p.Ala487fs)
NM_147127.5(EVC2):c.1470+1dup rs1717244500
NM_147127.5(EVC2):c.1483_1484dup (p.Ser496fs) rs2108851802
NM_147127.5(EVC2):c.1519C>T (p.Gln507Ter)
NM_147127.5(EVC2):c.1529T>A (p.Leu510Ter) rs2108851695
NM_147127.5(EVC2):c.1541_1542del (p.Leu514fs) rs1560180583
NM_147127.5(EVC2):c.1588_1591del (p.Ala530fs)
NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter) rs1284395468
NM_147127.5(EVC2):c.1667_1668del (p.Pro556fs)
NM_147127.5(EVC2):c.1706del (p.Ile569fs)
NM_147127.5(EVC2):c.1755dup (p.Tyr586fs) rs2108847232
NM_147127.5(EVC2):c.1791T>G (p.Tyr597Ter)
NM_147127.5(EVC2):c.1807_1808del (p.Gln603fs)
NM_147127.5(EVC2):c.1857_1866del (p.Gln619fs) rs2108847014
NM_147127.5(EVC2):c.1939_1945del (p.Thr647fs)
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.1991dup (p.Lys665fs) rs2108843224
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.199_208dup (p.Gly70fs)
NM_147127.5(EVC2):c.2010del (p.Lys670fs) rs2108843186
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter) rs2108843158
NM_147127.5(EVC2):c.2026_2027insTTCT (p.Arg676fs)
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter) rs73198165
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
NM_147127.5(EVC2):c.2056C>T (p.Gln686Ter)
NM_147127.5(EVC2):c.2057del (p.Gln686fs)
NM_147127.5(EVC2):c.205del (p.Ala69fs) rs1400121444
NM_147127.5(EVC2):c.2068C>T (p.Gln690Ter)
NM_147127.5(EVC2):c.2069_2070del (p.Gln690fs) rs1715829134
NM_147127.5(EVC2):c.207_211dup (p.Pro71fs)
NM_147127.5(EVC2):c.208_212dup (p.Glu72fs)
NM_147127.5(EVC2):c.2148_2149dup (p.His717fs)
NM_147127.5(EVC2):c.2150_2156del (p.His717fs)
NM_147127.5(EVC2):c.2161del (p.Leu721fs)
NM_147127.5(EVC2):c.2188C>T (p.Gln730Ter) rs2108839112
NM_147127.5(EVC2):c.2281del (p.Gln761fs)
NM_147127.5(EVC2):c.2332del (p.Glu778fs)
NM_147127.5(EVC2):c.2365G>T (p.Glu789Ter)
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2380G>T (p.Glu794Ter)
NM_147127.5(EVC2):c.2386_2387del (p.Arg796fs)
NM_147127.5(EVC2):c.2405del (p.Gly802fs) rs2108838579
NM_147127.5(EVC2):c.2410C>T (p.Gln804Ter)
NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter) rs1715768907
NM_147127.5(EVC2):c.2516_2517delinsAG (p.Ser839Ter)
NM_147127.5(EVC2):c.2524_2536del (p.Ser842fs) rs2108833500
NM_147127.5(EVC2):c.2533G>T (p.Glu845Ter)
NM_147127.5(EVC2):c.253A>T (p.Lys85Ter) rs2151739558
NM_147127.5(EVC2):c.2540_2549del (p.Glu847fs)
NM_147127.5(EVC2):c.2619_2629del (p.Arg874fs)
NM_147127.5(EVC2):c.2632C>T (p.Gln878Ter)
NM_147127.5(EVC2):c.2637_2638dup (p.Phe880fs) rs2108833230
NM_147127.5(EVC2):c.2652G>A (p.Trp884Ter) rs981099037
NM_147127.5(EVC2):c.2680C>T (p.Gln894Ter)
NM_147127.5(EVC2):c.2698G>T (p.Glu900Ter)
NM_147127.5(EVC2):c.2729C>G (p.Ser910Ter) rs2108829049
NM_147127.5(EVC2):c.273dup (p.Lys92Ter) rs2151739536
NM_147127.5(EVC2):c.2746del (p.Ser916fs) rs886037763
NM_147127.5(EVC2):c.2750del (p.Lys917fs)
NM_147127.5(EVC2):c.2796_2797del (p.Cys932_Glu933delinsTer) rs765076649
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter) rs1301855639
NM_147127.5(EVC2):c.2843T>A (p.Leu948Ter)
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
NM_147127.5(EVC2):c.2867_2879del (p.Met956fs)
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
NM_147127.5(EVC2):c.2892del (p.Gln965fs)
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
NM_147127.5(EVC2):c.2893_2894del (p.Gln965fs)
NM_147127.5(EVC2):c.2897C>A (p.Ser966Ter) rs145425340
NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs)
NM_147127.5(EVC2):c.2954del (p.Tyr985fs) rs2108788549
NM_147127.5(EVC2):c.3023C>A (p.Ser1008Ter) rs60809236
NM_147127.5(EVC2):c.3057+1del rs772639262
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.30dup (p.Thr11fs) rs1442303442
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter) rs200560762
NM_147127.5(EVC2):c.314del (p.Lys105fs)
NM_147127.5(EVC2):c.3194del (p.Asp1065fs) rs2108778725
NM_147127.5(EVC2):c.3239del (p.Lys1080fs) rs1291275281
NM_147127.5(EVC2):c.3251T>A (p.Leu1084Ter)
NM_147127.5(EVC2):c.3252dup (p.Leu1085fs)
NM_147127.5(EVC2):c.3346dup (p.Thr1116fs) rs1722814486
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3374dup (p.Ser1126fs)
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs) rs1722452431
NM_147127.5(EVC2):c.3454_3461del (p.Gln1152fs)
NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs) rs1722451930
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs) rs778793911
NM_147127.5(EVC2):c.3487_3488dup (p.Glu1164fs) rs2108770774
NM_147127.5(EVC2):c.3542_3543insACGA (p.Asp1181fs)
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.3634delinsGA (p.Leu1212fs) rs1553812417
NM_147127.5(EVC2):c.3637_3638insTT (p.Trp1213fs)
NM_147127.5(EVC2):c.3640del (p.Ala1214fs) rs1577095782
NM_147127.5(EVC2):c.3648_3649delinsTT (p.Lys1216_Arg1217delinsAsnTer) rs2108767230
NM_147127.5(EVC2):c.3655C>T (p.Gln1219Ter) rs369739594
NM_147127.5(EVC2):c.369_370del (p.Trp123fs)
NM_147127.5(EVC2):c.3734C>A (p.Ser1245Ter)
NM_147127.5(EVC2):c.3751G>T (p.Glu1251Ter) rs769520928
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.390dup (p.Ile131fs) rs1253403779
NM_147127.5(EVC2):c.392dup (p.Pro132fs) rs774416029
NM_147127.5(EVC2):c.420del (p.Phe140fs)
NM_147127.5(EVC2):c.437_438dup (p.Thr147Ter)
NM_147127.5(EVC2):c.449del (p.Leu150fs)
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.519+1G>A
NM_147127.5(EVC2):c.519+2T>C rs1721102486
NM_147127.5(EVC2):c.519+2T>G
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.557G>A (p.Trp186Ter)
NM_147127.5(EVC2):c.599_602dup (p.Glu202fs)
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter) rs779857359
NM_147127.5(EVC2):c.655G>T (p.Gly219Ter) rs745404766
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter) rs999964757
NM_147127.5(EVC2):c.670dup (p.Glu224fs)
NM_147127.5(EVC2):c.703C>T (p.Gln235Ter)
NM_147127.5(EVC2):c.707-2A>C rs1302074641
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.790C>T (p.Gln264Ter)
NM_147127.5(EVC2):c.802C>T (p.Gln268Ter) rs2151728030
NM_147127.5(EVC2):c.80dup (p.Arg28fs)
NM_147127.5(EVC2):c.816+1G>T rs1355905411
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.820A>T (p.Arg274Ter) rs2151724149
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.826_827del (p.Gln276fs) rs758841632
NM_147127.5(EVC2):c.850del (p.Thr284fs) rs886044525
NM_147127.5(EVC2):c.86del (p.Gly29fs)
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.876_892dup (p.His298fs) rs2108900159
NM_147127.5(EVC2):c.903del (p.Phe302fs) rs1560208675
NM_147127.5(EVC2):c.90_91delinsAT (p.Cys30_Leu31delinsTer)
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_153717.3(EVC):c.-1_1delinsTT (p.Met1Leu)
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1047_1048del (p.Arg349fs) rs745627738
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1084G>T (p.Glu362Ter)
NM_153717.3(EVC):c.1086del (p.Glu362fs)
NM_153717.3(EVC):c.1114del (p.Thr372fs)
NM_153717.3(EVC):c.1122dup (p.Arg375fs)
NM_153717.3(EVC):c.1168C>T (p.Gln390Ter) rs1560340266
NM_153717.3(EVC):c.1228G>T (p.Glu410Ter) rs2152076522
NM_153717.3(EVC):c.1233dup (p.Lys412fs)
NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs) rs1730623318
NM_153717.3(EVC):c.1269_1278del (p.Gln424fs)
NM_153717.3(EVC):c.1290_1291delinsAA (p.Trp430_Gln431delinsTer) rs2152076745
NM_153717.3(EVC):c.1312del (p.Arg438fs) rs1560340993
NM_153717.3(EVC):c.1327C>T (p.Arg443Ter) rs1730760070
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs) rs1553876034
NM_153717.3(EVC):c.1412_1413del (p.Arg471fs)
NM_153717.3(EVC):c.1462G>T (p.Glu488Ter)
NM_153717.3(EVC):c.1494del (p.Arg498fs) rs2152094799
NM_153717.3(EVC):c.1501C>T (p.Gln501Ter) rs373088008
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.155del (p.Arg52fs) rs1439712140
NM_153717.3(EVC):c.1572C>G (p.Tyr524Ter)
NM_153717.3(EVC):c.157C>T (p.Gln53Ter)
NM_153717.3(EVC):c.1618del (p.Leu540fs)
NM_153717.3(EVC):c.1652del (p.Pro551fs) rs1312383000
NM_153717.3(EVC):c.1652dup (p.Glu552fs)
NM_153717.3(EVC):c.1657G>T (p.Glu553Ter)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) rs751772225
NM_153717.3(EVC):c.1687G>T (p.Glu563Ter) rs539010490
NM_153717.3(EVC):c.16del (p.Ala6fs) rs2151766718
NM_153717.3(EVC):c.174+1G>T rs2151768710
NM_153717.3(EVC):c.1746_1747del (p.Phe583fs) rs2152289369
NM_153717.3(EVC):c.1750del (p.Gln584fs) rs1736000365
NM_153717.3(EVC):c.1750dup (p.Gln584fs)
NM_153717.3(EVC):c.1777-2A>C
NM_153717.3(EVC):c.1783_1886+40del rs2152326431
NM_153717.3(EVC):c.1818_1821del (p.His607fs) rs2152326544
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter) rs1329006994
NM_153717.3(EVC):c.186_187del (p.Gln63fs)
NM_153717.3(EVC):c.1884_1885insCA (p.Glu629fs) rs2152326770
NM_153717.3(EVC):c.1886+5G>A rs794726665
NM_153717.3(EVC):c.1900del (p.Val634fs)
NM_153717.3(EVC):c.1971del (p.Thr658fs) rs2152340509
NM_153717.3(EVC):c.1A>C (p.Met1Leu)
NM_153717.3(EVC):c.2029C>T (p.Gln677Ter)
NM_153717.3(EVC):c.203del (p.Asn68fs) rs1560274093
NM_153717.3(EVC):c.2079G>A (p.Trp693Ter)
NM_153717.3(EVC):c.2088_2089dup (p.Arg697fs)
NM_153717.3(EVC):c.2089_2090del (p.Arg697fs)
NM_153717.3(EVC):c.2126_2129dup (p.Glu711fs)
NM_153717.3(EVC):c.2145_2146insGCCC (p.Gln716fs) rs2152345583
NM_153717.3(EVC):c.2146C>T (p.Gln716Ter) rs1714412021
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2167C>T (p.Gln723Ter)
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
NM_153717.3(EVC):c.2365del (p.Leu789fs)
NM_153717.3(EVC):c.2379T>G (p.Tyr793Ter)
NM_153717.3(EVC):c.2382C>A (p.Tyr794Ter)
NM_153717.3(EVC):c.2399_2408del (p.Ile800fs)
NM_153717.3(EVC):c.241dup (p.Ser81fs)
NM_153717.3(EVC):c.2457del (p.Met820fs) rs794726666
NM_153717.3(EVC):c.2472dup (p.Leu825fs)
NM_153717.3(EVC):c.2488G>T (p.Glu830Ter) rs2152375194
NM_153717.3(EVC):c.248C>G (p.Ser83Ter)
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.2518_2528del (p.Thr840fs)
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter) rs561852174
NM_153717.3(EVC):c.2561+1dup rs2152375437
NM_153717.3(EVC):c.25A>T (p.Lys9Ter) rs1425513399
NM_153717.3(EVC):c.2634_2635delinsTT (p.Gln878_Gln879delinsHisTer) rs2152387847
NM_153717.3(EVC):c.2662G>T (p.Glu888Ter)
NM_153717.3(EVC):c.267_274del (p.Glu89fs) rs2151842413
NM_153717.3(EVC):c.2686C>T (p.Gln896Ter)
NM_153717.3(EVC):c.2698C>T (p.Gln900Ter) rs1039706882
NM_153717.3(EVC):c.2705del (p.Phe902fs) rs2152391901
NM_153717.3(EVC):c.2782+1del rs1169539647
NM_153717.3(EVC):c.286A>T (p.Lys96Ter) rs2151842550
NM_153717.3(EVC):c.338dup (p.Ala114fs) rs2151919221
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.369del (p.Asn124fs)
NM_153717.3(EVC):c.37_38del (p.Arg13fs) rs1722986802
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_153717.3(EVC):c.478_481del (p.Ser160fs) rs2151935449
NM_153717.3(EVC):c.528del (p.Ser177fs) rs1381525157
NM_153717.3(EVC):c.539C>A (p.Ser180Ter) rs762136199
NM_153717.3(EVC):c.568dup (p.Arg190fs)
NM_153717.3(EVC):c.583del (p.Arg194_Val195insTer) rs2151935987
NM_153717.3(EVC):c.596del (p.Pro199fs)
NM_153717.3(EVC):c.612C>A (p.Cys204Ter) rs553634958
NM_153717.3(EVC):c.613G>T (p.Glu205Ter)
NM_153717.3(EVC):c.618-2A>G
NM_153717.3(EVC):c.62_68dup (p.Pro25fs)
NM_153717.3(EVC):c.635del (p.Cys212fs) rs2151945937
NM_153717.3(EVC):c.641dup (p.Tyr214Ter)
NM_153717.3(EVC):c.653T>G (p.Leu218Ter)
NM_153717.3(EVC):c.673del (p.Asp225fs) rs2151946081
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.708dup (p.Ile237fs)
NM_153717.3(EVC):c.720dup (p.Lys241Ter) rs1553871764
NM_153717.3(EVC):c.721A>T (p.Lys241Ter) rs2152000498
NM_153717.3(EVC):c.724dup (p.Met242fs) rs1577395250
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.784del (p.Leu262fs) rs1560315890
NM_153717.3(EVC):c.784dup (p.Leu262fs)
NM_153717.3(EVC):c.788C>G (p.Ser263Ter) rs2152001027
NM_153717.3(EVC):c.829C>T (p.Gln277Ter) rs1251648799
NM_153717.3(EVC):c.872_873del (p.Asp290_Ser291insTer)
NM_153717.3(EVC):c.903_909delinsTC (p.Lys301fs) rs1729197529
NM_153717.3(EVC):c.90del (p.Ala31fs) rs1196950486
NM_153717.3(EVC):c.910dup (p.Arg304fs) rs1428798262
NM_153717.3(EVC):c.922_923del (p.Glu308fs) rs1729200967
NM_153717.3(EVC):c.958C>T (p.Gln320Ter)
NM_153717.3(EVC):c.973C>T (p.Gln325Ter) rs1729654379
NM_153717.3(EVC):c.986_987del (p.Val329fs)

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