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)
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|
|
NM_153717.3(EVC):c.37del (p.Arg13fs)
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|
|
NM_153717.3(EVC):c.384G>T (p.Arg128=)
|
rs1553865346
|
|
NM_153717.3(EVC):c.385-1G>A
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|
|
NM_153717.3(EVC):c.393del (p.Asp132fs)
|
rs1437174284
|
|
NM_153717.3(EVC):c.39_40del (p.Leu14fs)
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|
|
NM_153717.3(EVC):c.3_4insTATAAGAGACA (p.Ala2fs)
|
|
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NM_153717.3(EVC):c.40_41insACTGTCTCTTA (p.Leu14fs)
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NM_153717.3(EVC):c.43_44insGTATAAGAGACAG (p.Leu15fs)
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|
|
NM_153717.3(EVC):c.48_55del (p.Gly17fs)
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|
|
NM_153717.3(EVC):c.54_61del (p.Asp19fs)
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|
|
NM_153717.3(EVC):c.56_174+42del
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|
|
NM_153717.3(EVC):c.59_60insA (p.Leu21fs)
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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)
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|
|
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)
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|
|
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)
|
|
|