NM_001377.3(DYNC2H1):c.3097-4A>G
|
rs368802969
|
0.00476
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)
|
rs137853026
|
0.00105
|
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)
|
rs184256941
|
0.00078
|
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_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_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)
|
rs552436294
|
0.00011
|
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_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_025132.4(WDR19):c.880G>A (p.Gly294Arg)
|
rs377160857
|
0.00006
|
NM_001377.3(DYNC2H1):c.5808del (p.Glu1935_Tyr1936insTer)
|
rs775759098
|
0.00005
|
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_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_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys)
|
rs193204571
|
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_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.5972T>A (p.Met1991Lys)
|
rs1202784860
|
0.00003
|
NM_001377.3(DYNC2H1):c.7663G>A (p.Val2555Met)
|
rs746195428
|
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_015650.4(TRAF3IP1):c.1368-1del
|
rs764906529
|
0.00003
|
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)
|
rs200649783
|
0.00003
|
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.5087C>T (p.Thr1696Met)
|
rs751030969
|
0.00002
|
NM_001377.3(DYNC2H1):c.5547del (p.Phe1849fs)
|
rs771003300
|
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_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)
|
rs746068882
|
0.00002
|
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.337C>T (p.Arg113Trp)
|
rs745569868
|
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.7945G>T (p.Gly2649Cys)
|
rs758155107
|
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.9844G>A (p.Asp3282Asn)
|
rs780600124
|
0.00001
|
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys)
|
rs397514637
|
0.00001
|
NM_020779.4(WDR35):c.1400+3A>G
|
rs776631281
|
0.00001
|
NM_020800.3(IFT80):c.1882C>T (p.Arg628Ter)
|
rs781436346
|
0.00001
|
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg)
|
rs1215108056
|
0.00001
|
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter)
|
rs772599282
|
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_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp)
|
rs555811074
|
0.00001
|
NM_147127.5(EVC2):c.1713dup (p.Asn572fs)
|
rs1553836165
|
0.00001
|
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)
|
rs761707323
|
0.00001
|
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_000011.9:g.(?_101323686)_(103349981_?)del
|
|
|
NC_000011.9:g.(?_103039464)_(103041817_?)del
|
|
|
NC_000011.9:g.(?_103325894)_(103349981_?)del
|
|
|
NM_001080463.1(DYNC2H1):c.7141delG
|
rs1160036887
|
|
NM_001080463.2(DYNC2H1):c.9839G>A (p.Trp3280Ter)
|
rs1565423740
|
|
NM_001377.3(DYNC2H1):c.10039C>T (p.Gln3347Ter)
|
|
|
NM_001377.3(DYNC2H1):c.10042+1G>A
|
|
|
NM_001377.3(DYNC2H1):c.10099C>T (p.Arg3367Cys)
|
rs200710887
|
|
NM_001377.3(DYNC2H1):c.10105T>C (p.Phe3369Leu)
|
rs1555081345
|
|
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.10900C>T (p.Pro3634Ser)
|
rs769053227
|
|
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.11597del (p.Ser3866fs)
|
rs1555098222
|
|
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.12806T>C (p.Leu4269Ser)
|
rs1555143920
|
|
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.2225T>G (p.Met742Arg)
|
rs774610143
|
|
NM_001377.3(DYNC2H1):c.2247G>A (p.Trp749Ter)
|
|
|
NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp)
|
rs1555043520
|
|
NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter)
|
rs755883373
|
|
NM_001377.3(DYNC2H1):c.2386del (p.Arg796fs)
|
rs765454943
|
|
NM_001377.3(DYNC2H1):c.2549T>A (p.Leu850Ter)
|
|
|
NM_001377.3(DYNC2H1):c.2574+1G>A
|
rs1565329461
|
|
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.3095del (p.Gln1032fs)
|
rs1555049536
|
|
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.4162_4170dup (p.Val1388_Thr1390dup)
|
rs1555051720
|
|
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.4418T>C (p.Ile1473Thr)
|
rs1555052511
|
|
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.4553G>A (p.Cys1518Tyr)
|
rs1555053115
|
|
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.5558+2T>C
|
rs762666243
|
|
NM_001377.3(DYNC2H1):c.5612del (p.Thr1871fs)
|
rs1555056464
|
|
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.5984C>T (p.Ala1995Val)
|
rs963717773
|
|
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.6161G>C (p.Cys2054Ser)
|
rs1555057838
|
|
NM_001377.3(DYNC2H1):c.6220C>T (p.Arg2074Ter)
|
|
|
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile)
|
rs431905498
|
|
NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp)
|
rs753662982
|
|
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.729T>A (p.Tyr243Ter)
|
rs1565311145
|
|
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.8311+1G>A
|
rs1555068270
|
|
NM_001377.3(DYNC2H1):c.8434del (p.Ser2812fs)
|
rs1555068636
|
|
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.9045T>G (p.Asp3015Glu)
|
rs794727767
|
|
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_001619.5(GRK2):c.469C>T (p.Leu157Phe)
|
rs2136500272
|
|
NM_002296.4(LBR):c.1174G>A (p.Gly392Arg)
|
rs1236962991
|
|
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs)
|
rs587776909
|
|
NM_014714.4(IFT140):c.874G>A (p.Val292Met)
|
rs431905521
|
|
NM_015650.4(TRAF3IP1):c.1358C>G (p.Ser453Cys)
|
rs146820102
|
|
NM_020779.4(WDR35):c.2489A>T (p.Asp830Val)
|
rs1553316926
|
|
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.1561C>T (p.Leu521Phe)
|
rs1553753582
|
|
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.572T>A (p.Ile191Asn)
|
rs372576954
|
|
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_025132.4(WDR19):c.3716+1G>A
|
rs1191056931
|
|
NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr)
|
rs745603321
|
|
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs)
|
rs747165335
|
|
NM_025132.4(WDR19):c.746T>C (p.Phe249Ser)
|
rs1553905326
|
|
NM_052844.4(DYNC2I2):c.1567_1582del (p.Glu523fs)
|
rs1554770453
|
|
NM_052844.4(DYNC2I2):c.935T>C (p.Phe312Ser)
|
rs1554771175
|
|
NM_147127.5(EVC2):c.3360+1G>A
|
rs1553815019
|
|
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs)
|
rs750396637
|
|
Single allele
|
|
|