ClinVar Miner

List of variants studied for Jeune thoracic dystrophy

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ClinVar version:
Total variants: 3315
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=) rs585692 0.94841
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623 0.75293
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906 0.66697
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=) rs586592 0.64171
NM_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=) rs658804 0.59243
NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=) rs2566913 0.54510
NM_001377.3(DYNC2H1):c.12366+7G>A rs10895417 0.51079
NM_001377.3(DYNC2H1):c.10043-15G>T rs648387 0.39966
NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser) rs6778728 0.31629
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val) rs10895391 0.29753
NM_001377.3(DYNC2H1):c.10773G>A (p.Thr3591=) rs12574626 0.19492
NM_020800.3(IFT80):c.1926+13T>C rs3737214 0.17528
NM_001377.3(DYNC2H1):c.11256+18C>T rs11225674 0.16562
NM_001377.3(DYNC2H1):c.11649+12C>A rs79978663 0.13559
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=) rs11225584 0.10418
NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=) rs17394217 0.10011
NM_024753.4(TTC21B):c.-145G>A rs111867313 0.09068
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578 0.09042
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182 0.08896
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala) rs17301750 0.08745
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028 0.06471
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279 0.03138
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870 0.02821
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424 0.02371
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738 0.02353
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969 0.02244
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170 0.01817
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504 0.01790
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272 0.01688
NM_001377.3(DYNC2H1):c.*265C>T rs78537620 0.01600
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062 0.01583
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613 0.01532
NM_001377.3(DYNC2H1):c.-94G>T rs114993913 0.01448
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947 0.01339
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489 0.01113
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_001377.3(DYNC2H1):c.4968+18G>A rs144263658 0.00894
NM_001377.3(DYNC2H1):c.1485+19G>A rs111375449 0.00764
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) rs115480556 0.00689
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504 0.00672
NM_001377.3(DYNC2H1):c.7198A>G (p.Ile2400Val) rs114292876 0.00632
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934 0.00628
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr) rs61737514 0.00612
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=) rs144624858 0.00606
NM_001377.3(DYNC2H1):c.10966A>G (p.Met3656Val) rs151156076 0.00599
NM_001377.3(DYNC2H1):c.27G>T (p.Arg9=) rs113537035 0.00594
NM_001377.3(DYNC2H1):c.11726-10A>T rs185916947 0.00561
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) rs78599571 0.00555
NM_020800.3(IFT80):c.2139T>C (p.Asp713=) rs16831157 0.00485
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_001377.3(DYNC2H1):c.5442C>T (p.Pro1814=) rs76833922 0.00476
NM_001377.3(DYNC2H1):c.6477+14A>T rs111970770 0.00460
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met) rs146569005 0.00441
NM_020800.3(IFT80):c.371-10C>A rs188321058 0.00420
NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu) rs142881106 0.00365
NM_001377.3(DYNC2H1):c.10650A>G (p.Ser3550=) rs185562630 0.00361
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545 0.00344
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811 0.00327
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537 0.00317
NM_020800.3(IFT80):c.1076+9C>G rs139408398 0.00283
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363 0.00255
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335 0.00236
NM_020800.3(IFT80):c.880G>A (p.Val294Ile) rs148926415 0.00224
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val) rs202071528 0.00219
NM_020800.3(IFT80):c.777+20A>G rs192387448 0.00217
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556 0.00212
NM_001377.3(DYNC2H1):c.6909C>T (p.Tyr2303=) rs191012679 0.00210
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=) rs371410128 0.00193
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_001377.3(DYNC2H1):c.5334+6G>A rs372964069 0.00189
NM_001377.3(DYNC2H1):c.10314A>G (p.Glu3438=) rs369838929 0.00188
NM_001377.3(DYNC2H1):c.1953+14T>C rs186540831 0.00180
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe) rs201563576 0.00172
NM_001377.3(DYNC2H1):c.6478-17C>T rs61899765 0.00172
NM_001377.3(DYNC2H1):c.6894-4G>A rs17100043 0.00168
NM_001377.3(DYNC2H1):c.1661+16T>C rs187129481 0.00164
NM_001377.3(DYNC2H1):c.12366+8A>G rs200404815 0.00156
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294 0.00151
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720 0.00140
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443 0.00129
NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=) rs201310509 0.00128
NM_020800.3(IFT80):c.550-18T>C rs150600821 0.00128
NM_001377.3(DYNC2H1):c.10048C>T (p.Arg3350Cys) rs149452352 0.00121
NM_001377.3(DYNC2H1):c.12566+17A>G rs187787132 0.00113
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_001377.3(DYNC2H1):c.6918A>G (p.Ser2306=) rs368824340 0.00102
NM_001377.3(DYNC2H1):c.3744+9C>T rs142483417 0.00101
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val) rs201967064 0.00101
NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg) rs185613200 0.00099
NM_024753.4(TTC21B):c.-91T>C rs772121352 0.00096
NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu) rs142920070 0.00093
NM_001377.3(DYNC2H1):c.4812C>T (p.Ile1604=) rs370677208 0.00091
NM_001377.3(DYNC2H1):c.6159C>T (p.Ile2053=) rs373665655 0.00091
NM_024753.4(TTC21B):c.-107C>T rs545898884 0.00091
NM_001377.3(DYNC2H1):c.5439G>A (p.Arg1813=) rs371039240 0.00090
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val) rs200170585 0.00090
NM_001377.3(DYNC2H1):c.3384C>A (p.Ala1128=) rs199935024 0.00089
NM_001377.3(DYNC2H1):c.5559-6T>C rs369043863 0.00089
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile) rs189100009 0.00087
NM_001377.3(DYNC2H1):c.1134+8A>G rs138290301 0.00086
NM_001377.3(DYNC2H1):c.*211A>G rs148091830 0.00083
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323 0.00081
NM_001377.3(DYNC2H1):c.2482A>G (p.Met828Val) rs200961157 0.00081
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=) rs375307767 0.00077
NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly) rs201829296 0.00076
NM_001377.3(DYNC2H1):c.5088G>A (p.Thr1696=) rs201302396 0.00074
NM_020800.2(IFT80):c.-183C>T rs545378240 0.00070
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310 0.00069
NM_001377.3(DYNC2H1):c.1135-11_1135-8del rs551487728 0.00064
NM_001377.3(DYNC2H1):c.476T>C (p.Leu159Ser) rs201510850 0.00064
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val) rs200208000 0.00064
NM_001377.3(DYNC2H1):c.8831A>G (p.Gln2944Arg) rs201252553 0.00064
NM_001377.3(DYNC2H1):c.7708+9A>G rs375081757 0.00063
NM_001377.3(DYNC2H1):c.11022+7T>A rs190701725 0.00062
NM_001377.3(DYNC2H1):c.12039+15A>G rs184350782 0.00059
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792 0.00057
NM_001377.3(DYNC2H1):c.4312T>C (p.Leu1438=) rs367841359 0.00055
NM_001377.3(DYNC2H1):c.7320G>A (p.Thr2440=) rs183927107 0.00054
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys) rs374073337 0.00053
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) rs180861816 0.00052
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) rs373977008 0.00051
NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=) rs371259464 0.00051
NM_020800.3(IFT80):c.1771A>G (p.Ile591Val) rs142518115 0.00051
NM_020800.3(IFT80):c.60G>A (p.Val20=) rs201088893 0.00051
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln) rs200326353 0.00050
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala) rs146065418 0.00048
NM_001377.3(DYNC2H1):c.6093T>G (p.Asp2031Glu) rs372641908 0.00047
NM_001377.3(DYNC2H1):c.8661A>G (p.Lys2887=) rs376184114 0.00046
NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) rs202216852 0.00044
NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val) rs182506343 0.00043
NM_001377.3(DYNC2H1):c.1350C>T (p.Asp450=) rs190106816 0.00043
NM_001377.3(DYNC2H1):c.4576C>A (p.Gln1526Lys) rs201162989 0.00043
NM_001377.3(DYNC2H1):c.7540+20A>G rs535988847 0.00043
NM_001377.3(DYNC2H1):c.9158G>A (p.Arg3053Gln) rs183985095 0.00043
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00043
NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg) rs369040584 0.00042
NM_001377.3(DYNC2H1):c.317G>A (p.Ser106Asn) rs200485999 0.00042
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val) rs201043335 0.00042
NM_001377.3(DYNC2H1):c.6642T>C (p.His2214=) rs200306856 0.00042
NM_001377.3(DYNC2H1):c.6625A>T (p.Thr2209Ser) rs200762072 0.00041
NM_001377.3(DYNC2H1):c.6769G>A (p.Gly2257Ser) rs199897162 0.00041
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802 0.00041
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=) rs373707570 0.00039
NM_001377.3(DYNC2H1):c.9007A>G (p.Ile3003Val) rs367832579 0.00039
NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) rs150370681 0.00039
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=) rs201953670 0.00038
NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro) rs200460601 0.00035
NM_001377.3(DYNC2H1):c.10883C>T (p.Thr3628Ile) rs1057524234 0.00034
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu) rs201194631 0.00034
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val) rs199503535 0.00034
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314 0.00033
NM_001377.3(DYNC2H1):c.10884A>T (p.Thr3628=) rs371844948 0.00032
NM_001377.3(DYNC2H1):c.7576A>G (p.Ile2526Val) rs187196207 0.00031
NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu) rs184910011 0.00030
NM_001377.3(DYNC2H1):c.5335-11T>G rs181963253 0.00029
NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val) rs201860217 0.00029
NM_001377.3(DYNC2H1):c.9123A>C (p.Arg3041Ser) rs369837389 0.00029
NM_015693.4(INTU):c.1628G>A (p.Arg543His) rs34027211 0.00029
NM_020800.3(IFT80):c.846T>C (p.Thr282=) rs141134950 0.00028
NM_020800.3(IFT80):c.371-19T>G rs557249203 0.00027
NM_001377.3(DYNC2H1):c.12609A>G (p.Ser4203=) rs377621045 0.00026
NM_001377.3(DYNC2H1):c.4053T>C (p.Tyr1351=) rs372246714 0.00026
NM_001377.3(DYNC2H1):c.4916C>A (p.Thr1639Lys) rs200239560 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001377.3(DYNC2H1):c.1184C>T (p.Ala395Val) rs200822573 0.00025
NM_001377.3(DYNC2H1):c.10199G>A (p.Arg3400Gln) rs775615484 0.00024
NM_001377.3(DYNC2H1):c.2145A>G (p.Gln715=) rs373969189 0.00024
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys) rs199541807 0.00024
NM_001377.3(DYNC2H1):c.8311+10A>G rs376842066 0.00024
NM_016004.5(IFT52):c.931G>A (p.Glu311Lys) rs145672738 0.00024
NM_001377.3(DYNC2H1):c.11670A>G (p.Glu3890=) rs368459657 0.00023
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230 0.00023
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770 0.00022
NM_001377.3(DYNC2H1):c.12068G>A (p.Arg4023Lys) rs771264933 0.00022
NM_001377.3(DYNC2H1):c.3735C>T (p.Ala1245=) rs377584612 0.00021
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=) rs201016942 0.00021
NM_001377.3(DYNC2H1):c.5508A>G (p.Lys1836=) rs201305322 0.00021
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) rs201820395 0.00021
NM_024753.4(TTC21B):c.-94C>T rs563836188 0.00021
NM_001377.3(DYNC2H1):c.838G>T (p.Val280Leu) rs758857025 0.00020
NM_001377.3(DYNC2H1):c.8769G>A (p.Val2923=) rs375421077 0.00020
NM_001377.3(DYNC2H1):c.913G>A (p.Val305Met) rs201188696 0.00020
NM_020800.3(IFT80):c.933A>G (p.Thr311=) rs138798955 0.00020
NM_001377.3(DYNC2H1):c.12042T>C (p.Val4014=) rs199929555 0.00019
NM_001377.3(DYNC2H1):c.12909C>A (p.Phe4303Leu) rs191971137 0.00019
NM_001377.3(DYNC2H1):c.1384C>T (p.Arg462Trp) rs768459821 0.00019
NM_001377.3(DYNC2H1):c.2194G>A (p.Val732Ile) rs370906388 0.00019
NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp) rs772439717 0.00019
NM_001377.3(DYNC2H1):c.366+10G>A rs200257097 0.00019
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=) rs201863754 0.00019
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_020800.3(IFT80):c.1826G>A (p.Arg609His) rs540494495 0.00019
NM_001377.3(DYNC2H1):c.2947-7C>T rs535824548 0.00018
NM_001377.3(DYNC2H1):c.7719C>T (p.Tyr2573=) rs373903792 0.00018
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421 0.00018
NM_001377.3(DYNC2H1):c.11649+13A>G rs375086817 0.00017
NM_001377.3(DYNC2H1):c.12039+19C>T rs778374973 0.00017
NM_001377.3(DYNC2H1):c.12457-13T>C rs537890566 0.00017
NM_001377.3(DYNC2H1):c.6726G>T (p.Val2242=) rs200600809 0.00017
NM_001377.3(DYNC2H1):c.7462G>A (p.Asp2488Asn) rs201825699 0.00017
NM_001377.3(DYNC2H1):c.7893C>T (p.His2631=) rs373294424 0.00017
NM_020800.3(IFT80):c.213A>C (p.Val71=) rs560970159 0.00017
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_001377.3(DYNC2H1):c.1157C>T (p.Ser386Phe) rs541038013 0.00016
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=) rs144553338 0.00016
NM_001377.3(DYNC2H1):c.7222G>A (p.Ala2408Thr) rs201875907 0.00016
NM_001377.3(DYNC2H1):c.9568-13C>G rs189730787 0.00016
NM_020800.3(IFT80):c.2049C>T (p.Gly683=) rs367915575 0.00016
NM_020800.3(IFT80):c.634T>C (p.Tyr212His) rs756009771 0.00016
NM_020800.3(IFT80):c.640-8T>A rs770339585 0.00016
NM_020800.3(IFT80):c.912G>A (p.Glu304=) rs199575501 0.00016
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494 0.00015
NM_020800.3(IFT80):c.758G>A (p.Arg253His) rs144738877 0.00015
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_001377.3(DYNC2H1):c.11176A>G (p.Ile3726Val) rs370622418 0.00014
NM_001377.3(DYNC2H1):c.11788C>T (p.Arg3930Cys) rs199705540 0.00014
NM_001377.3(DYNC2H1):c.11904C>T (p.Ser3968=) rs767613863 0.00014
NM_001377.3(DYNC2H1):c.12040G>A (p.Val4014Ile) rs532644983 0.00014
NM_001377.3(DYNC2H1):c.3128G>A (p.Arg1043His) rs372627366 0.00014
NM_001377.3(DYNC2H1):c.4548G>A (p.Lys1516=) rs752835156 0.00014
NM_001377.3(DYNC2H1):c.7209G>A (p.Val2403=) rs371948128 0.00014
NM_020800.3(IFT80):c.2099+10A>G rs376944901 0.00014
NM_020800.3(IFT80):c.640-4G>A rs376056124 0.00014
NM_020800.3(IFT80):c.655G>A (p.Gly219Ser) rs201365447 0.00014
NM_020800.3(IFT80):c.807T>C (p.Thr269=) rs372419950 0.00014
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429 0.00014
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015 0.00013
NM_001377.3(DYNC2H1):c.12776G>T (p.Gly4259Val) rs368203507 0.00013
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=) rs199675558 0.00013
NM_025132.4(WDR19):c.1134+13T>G rs374615138 0.00013
NM_001377.3(DYNC2H1):c.10550G>A (p.Arg3517His) rs188113889 0.00012
NM_001377.3(DYNC2H1):c.11185C>T (p.Pro3729Ser) rs199766341 0.00012
NM_001377.3(DYNC2H1):c.12268G>A (p.Val4090Ile) rs376545196 0.00012
NM_001377.3(DYNC2H1):c.2210T>A (p.Phe737Tyr) rs200599406 0.00012
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln) rs564701277 0.00012
NM_001377.3(DYNC2H1):c.6697T>C (p.Ser2233Pro) rs375988913 0.00012
NM_001377.3(DYNC2H1):c.9231+12G>A rs369045696 0.00012
NM_020800.2(IFT80):c.-392T>G rs886058139 0.00012
NM_001377.3(DYNC2H1):c.10025G>A (p.Arg3342Gln) rs755136217 0.00011
NM_001377.3(DYNC2H1):c.10236A>G (p.Lys3412=) rs576479283 0.00011
NM_001377.3(DYNC2H1):c.1550A>G (p.His517Arg) rs375299740 0.00011
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=) rs377529350 0.00011
NM_001377.3(DYNC2H1):c.4378+11A>G rs375337802 0.00011
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_001377.3(DYNC2H1):c.6057A>G (p.Leu2019=) rs187190605 0.00011
NM_001377.3(DYNC2H1):c.6139+7C>T rs200749262 0.00011
NM_001377.3(DYNC2H1):c.7797T>G (p.Leu2599=) rs139319426 0.00011
NM_001377.3(DYNC2H1):c.8271A>G (p.Gln2757=) rs183652156 0.00011
NM_001377.3(DYNC2H1):c.9178A>C (p.Arg3060=) rs200515728 0.00011
NM_020800.3(IFT80):c.1204C>T (p.Arg402Cys) rs190990464 0.00011
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) rs202145480 0.00011
NM_020800.3(IFT80):c.36G>A (p.Lys12=) rs764052178 0.00011
NM_020800.3(IFT80):c.879C>T (p.Val293=) rs143660757 0.00011
NM_025132.4(WDR19):c.1249+9A>G rs201377206 0.00011
NM_001377.3(DYNC2H1):c.10876G>A (p.Val3626Met) rs201852557 0.00010
NM_001377.3(DYNC2H1):c.12551G>A (p.Arg4184His) rs200913028 0.00010
NM_001377.3(DYNC2H1):c.2342A>G (p.Tyr781Cys) rs370392119 0.00010
NM_001377.3(DYNC2H1):c.3539C>T (p.Thr1180Ile) rs368273539 0.00010
NM_001377.3(DYNC2H1):c.8585G>A (p.Cys2862Tyr) rs368447956 0.00010
NM_001377.3(DYNC2H1):c.8782A>C (p.Lys2928Gln) rs190819700 0.00010
NM_001377.3(DYNC2H1):c.9820-8T>A rs750689751 0.00010
NM_020800.2(IFT80):c.-410G>T rs113776466 0.00010
NM_020800.3(IFT80):c.1350G>A (p.Pro450=) rs201146135 0.00010
NM_001377.3(DYNC2H1):c.11677T>C (p.Leu3893=) rs190141107 0.00009
NM_001377.3(DYNC2H1):c.12006C>T (p.Ile4002=) rs775505863 0.00009
NM_001377.3(DYNC2H1):c.12025A>C (p.Met4009Leu) rs763169398 0.00009
NM_001377.3(DYNC2H1):c.12316T>G (p.Leu4106Val) rs139902197 0.00009
NM_001377.3(DYNC2H1):c.12833A>T (p.Asp4278Val) rs200268681 0.00009
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val) rs201224700 0.00009
NM_001377.3(DYNC2H1):c.2632A>G (p.Thr878Ala) rs539456541 0.00009
NM_001377.3(DYNC2H1):c.2702+18A>G rs376509072 0.00009
NM_001377.3(DYNC2H1):c.2936G>A (p.Arg979Gln) rs201810959 0.00009
NM_001377.3(DYNC2H1):c.4020G>T (p.Gln1340His) rs191869845 0.00009
NM_001377.3(DYNC2H1):c.5780C>T (p.Pro1927Leu) rs367585820 0.00009
NM_001377.3(DYNC2H1):c.7140+10A>C rs776590592 0.00009
NM_001377.3(DYNC2H1):c.7736G>A (p.Arg2579Gln) rs201854166 0.00009
NM_001377.3(DYNC2H1):c.8833-3T>C rs551227065 0.00009
NM_001377.3(DYNC2H1):c.9655G>A (p.Glu3219Lys) rs376974461 0.00009
NM_020800.2(IFT80):c.-376G>C rs886058138 0.00009
NM_020800.3(IFT80):c.1052C>T (p.Thr351Met) rs199778285 0.00009
NM_020800.3(IFT80):c.2289A>G (p.Gln763=) rs142438830 0.00009
NM_020800.3(IFT80):c.550-16T>C rs773225164 0.00009
NM_020800.3(IFT80):c.707C>T (p.Ala236Val) rs774857269 0.00009
NM_001377.3(DYNC2H1):c.10042+8A>C rs375945170 0.00008
NM_001377.3(DYNC2H1):c.12389A>G (p.Lys4130Arg) rs368043505 0.00008
NM_001377.3(DYNC2H1):c.1662-3T>C rs548328948 0.00008
NM_001377.3(DYNC2H1):c.4968+7G>A rs186890804 0.00008
NM_001377.3(DYNC2H1):c.7115G>A (p.Ser2372Asn) rs539366280 0.00008
NM_001377.3(DYNC2H1):c.722A>T (p.Asp241Val) rs183159969 0.00008
NM_001377.3(DYNC2H1):c.7597C>T (p.Arg2533Cys) rs754889986 0.00008
NM_001377.3(DYNC2H1):c.7794A>G (p.Pro2598=) rs781691287 0.00008
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_020800.2(IFT80):c.-243G>A rs559709322 0.00008
NM_020800.3(IFT80):c.192G>T (p.Trp64Cys) rs151263345 0.00008
NM_020800.3(IFT80):c.691C>T (p.Pro231Ser) rs149447674 0.00008
NM_020800.3(IFT80):c.804C>T (p.Asn268=) rs375407595 0.00008
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_001377.3(DYNC2H1):c.11287G>A (p.Ala3763Thr) rs780426783 0.00007
NM_001377.3(DYNC2H1):c.11745G>T (p.Trp3915Cys) rs549891589 0.00007
NM_001377.3(DYNC2H1):c.11952T>C (p.Ile3984=) rs777460218 0.00007
NM_001377.3(DYNC2H1):c.6894-5C>T rs552793888 0.00007
NM_001377.3(DYNC2H1):c.7675G>A (p.Asp2559Asn) rs368867624 0.00007
NM_020800.3(IFT80):c.1664+16G>A rs371952748 0.00007
NM_020800.3(IFT80):c.2142A>T (p.Thr714=) rs751917876 0.00007
NM_020800.3(IFT80):c.2224-9C>T rs752574778 0.00007
NM_020800.3(IFT80):c.38-4A>G rs368059086 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_001377.3(DYNC2H1):c.12854A>G (p.Asp4285Gly) rs886047583 0.00006
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His) rs770380730 0.00006
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu) rs189533535 0.00006
NM_001377.3(DYNC2H1):c.4386C>T (p.Asn1462=) rs372442744 0.00006
NM_001377.3(DYNC2H1):c.4762+20T>C rs750684131 0.00006
NM_001377.3(DYNC2H1):c.4899T>C (p.Tyr1633=) rs181546925 0.00006
NM_001377.3(DYNC2H1):c.5496G>A (p.Ser1832=) rs555082393 0.00006
NM_001377.3(DYNC2H1):c.5821G>C (p.Ala1941Pro) rs368058473 0.00006
NM_001377.3(DYNC2H1):c.6633+4A>T rs140033218 0.00006
NM_001377.3(DYNC2H1):c.7242A>G (p.Arg2414=) rs369826197 0.00006
NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr) rs1196317554 0.00006
NM_001377.3(DYNC2H1):c.9349G>A (p.Glu3117Lys) rs200870508 0.00006
NM_001377.3(DYNC2H1):c.954A>G (p.Lys318=) rs778594253 0.00006
NM_001377.3(DYNC2H1):c.9624T>G (p.Ala3208=) rs201247414 0.00006
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_020800.3(IFT80):c.1205G>A (p.Arg402His) rs147955112 0.00006
NM_020800.3(IFT80):c.1380+15C>A rs772668269 0.00006
NM_020800.3(IFT80):c.2100G>C (p.Arg700Ser) rs373671362 0.00006
NM_020800.3(IFT80):c.381T>C (p.Asp127=) rs369785345 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.3362A>G (p.Asn1121Ser) rs545916111 0.00006
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857 0.00006
NM_001377.3(DYNC2H1):c.12456+7C>T rs372189534 0.00005
NM_001377.3(DYNC2H1):c.12457-9C>T rs182352576 0.00005
NM_001377.3(DYNC2H1):c.12578G>A (p.Arg4193His) rs201699865 0.00005
NM_001377.3(DYNC2H1):c.12817A>C (p.Thr4273Pro) rs374409204 0.00005
NM_001377.3(DYNC2H1):c.1935A>T (p.Ala645=) rs368061315 0.00005
NM_001377.3(DYNC2H1):c.2387G>A (p.Arg796Gln) rs747028260 0.00005
NM_001377.3(DYNC2H1):c.2422G>A (p.Gly808Ser) rs372055203 0.00005
NM_001377.3(DYNC2H1):c.2974G>A (p.Asp992Asn) rs200222210 0.00005
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_001377.3(DYNC2H1):c.7492A>G (p.Ile2498Val) rs200034783 0.00005
NM_001377.3(DYNC2H1):c.8488G>A (p.Gly2830Arg) rs769394385 0.00005
NM_001377.3(DYNC2H1):c.8989C>T (p.Pro2997Ser) rs762604608 0.00005
NM_018051.5(DYNC2I1):c.1777C>T (p.Arg593Trp) rs776300442 0.00005
NM_020800.3(IFT80):c.1076+8T>C rs778101637 0.00005
NM_020800.3(IFT80):c.1126G>C (p.Val376Leu) rs753617262 0.00005
NM_020800.3(IFT80):c.1381-6T>A rs781482459 0.00005
NM_020800.3(IFT80):c.2014A>G (p.Ile672Val) rs767128122 0.00005
NM_020800.3(IFT80):c.2099+4A>G rs754398043 0.00005
NM_020800.3(IFT80):c.2156G>A (p.Arg719His) rs551983792 0.00005
NM_020800.3(IFT80):c.2286G>A (p.Glu762=) rs774118255 0.00005
NM_020800.3(IFT80):c.468C>T (p.Gly156=) rs145679417 0.00005
NM_020800.3(IFT80):c.511A>G (p.Ile171Val) rs140163837 0.00005
NM_001377.3(DYNC2H1):c.10043-15del rs369851711 0.00004
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His) rs759549373 0.00004
NM_001377.3(DYNC2H1):c.10143G>A (p.Pro3381=) rs370992556 0.00004
NM_001377.3(DYNC2H1):c.10277A>C (p.Glu3426Ala) rs375512191 0.00004
NM_001377.3(DYNC2H1):c.10713C>T (p.Phe3571=) rs886043866 0.00004
NM_001377.3(DYNC2H1):c.10813-9T>G rs754276021 0.00004
NM_001377.3(DYNC2H1):c.10832G>A (p.Arg3611His) rs751215142 0.00004
NM_001377.3(DYNC2H1):c.11822A>G (p.Gln3941Arg) rs200583107 0.00004
NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu) rs757571550 0.00004
NM_001377.3(DYNC2H1):c.12253C>T (p.Arg4085Cys) rs201076231 0.00004
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly) rs368654019 0.00004
NM_001377.3(DYNC2H1):c.2027A>C (p.Gln676Pro) rs752041287 0.00004
NM_001377.3(DYNC2H1):c.2421C>T (p.Ile807=) rs763470063 0.00004
NM_001377.3(DYNC2H1):c.2472T>G (p.Ile824Met) rs779852550 0.00004
NM_001377.3(DYNC2H1):c.2908A>T (p.Asn970Tyr) rs914483901 0.00004
NM_001377.3(DYNC2H1):c.3757C>T (p.Arg1253Trp) rs375636006 0.00004
NM_001377.3(DYNC2H1):c.391G>C (p.Asp131His) rs759690887 0.00004
NM_001377.3(DYNC2H1):c.4900A>G (p.Met1634Val) rs753296481 0.00004
NM_001377.3(DYNC2H1):c.5681A>G (p.Glu1894Gly) rs753911293 0.00004
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys) rs775426647 0.00004
NM_001377.3(DYNC2H1):c.6696C>T (p.Asp2232=) rs747015090 0.00004
NM_001377.3(DYNC2H1):c.7308G>A (p.Glu2436=) rs755810323 0.00004
NM_001377.3(DYNC2H1):c.7456G>A (p.Val2486Ile) rs568180989 0.00004
NM_001377.3(DYNC2H1):c.7540+3G>A rs750251551 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val) rs765998830 0.00004
NM_001377.3(DYNC2H1):c.8307A>G (p.Thr2769=) rs1429708573 0.00004
NM_001377.3(DYNC2H1):c.9011G>A (p.Arg3004His) rs755871858 0.00004
NM_001377.3(DYNC2H1):c.9217T>C (p.Ser3073Pro) rs199970220 0.00004
NM_001377.3(DYNC2H1):c.9585G>C (p.Glu3195Asp) rs758118161 0.00004
NM_001377.3(DYNC2H1):c.9710-11C>T rs751333123 0.00004
NM_001377.3(DYNC2H1):c.999+7A>G rs766672853 0.00004
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571 0.00004
NM_020800.2(IFT80):c.-296G>A rs886058136 0.00004
NM_020800.3(IFT80):c.1077-8T>C rs184413952 0.00004
NM_020800.3(IFT80):c.1104A>T (p.Ile368=) rs369114064 0.00004
NM_020800.3(IFT80):c.1151+14T>C rs549769036 0.00004
NM_020800.3(IFT80):c.1516+17A>G rs375692165 0.00004
NM_020800.3(IFT80):c.1545C>T (p.Asn515=) rs376003348 0.00004
NM_020800.3(IFT80):c.209G>A (p.Gly70Asp) rs752892324 0.00004
NM_020800.3(IFT80):c.394A>C (p.Ile132Leu) rs376849101 0.00004
NM_020800.3(IFT80):c.659G>A (p.Arg220His) rs754818191 0.00004
NM_020800.3(IFT80):c.757C>T (p.Arg253Cys) rs138656118 0.00004
NM_020800.3(IFT80):c.835A>G (p.Ile279Val) rs772283130 0.00004
NM_024753.4(TTC21B):c.-89C>G rs868157832 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_001286577.2(C2CD3):c.5267G>A (p.Gly1756Glu) rs150291837 0.00003
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447 0.00003
NM_001377.3(DYNC2H1):c.10433C>A (p.Ser3478Tyr) rs372499560 0.00003
NM_001377.3(DYNC2H1):c.11013A>C (p.Leu3671Phe) rs768893643 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.11525G>A (p.Arg3842His) rs759231451 0.00003
NM_001377.3(DYNC2H1):c.11649+4A>T rs372714647 0.00003
NM_001377.3(DYNC2H1):c.11726-7A>G rs746481743 0.00003
NM_001377.3(DYNC2H1):c.11858T>C (p.Ile3953Thr) rs769616176 0.00003
NM_001377.3(DYNC2H1):c.11942G>A (p.Arg3981His) rs755554260 0.00003
NM_001377.3(DYNC2H1):c.12022C>T (p.Arg4008Cys) rs765336353 0.00003
NM_001377.3(DYNC2H1):c.12166C>T (p.Leu4056=) rs762723352 0.00003
NM_001377.3(DYNC2H1):c.12195C>T (p.Asn4065=) rs751411944 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.12890A>G (p.Gln4297Arg) rs558920296 0.00003
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047 0.00003
NM_001377.3(DYNC2H1):c.1908G>A (p.Arg636=) rs773864708 0.00003
NM_001377.3(DYNC2H1):c.2399A>G (p.Tyr800Cys) rs776822327 0.00003
NM_001377.3(DYNC2H1):c.2639A>G (p.His880Arg) rs373531037 0.00003
NM_001377.3(DYNC2H1):c.2828A>G (p.His943Arg) rs747923490 0.00003
NM_001377.3(DYNC2H1):c.2955C>A (p.Pro985=) rs777145692 0.00003
NM_001377.3(DYNC2H1):c.2993G>A (p.Arg998Gln) rs372269011 0.00003
NM_001377.3(DYNC2H1):c.3361T>G (p.Ser1121Ala) rs772782945 0.00003
NM_001377.3(DYNC2H1):c.3746A>T (p.Asp1249Val) rs371037205 0.00003
NM_001377.3(DYNC2H1):c.3959G>A (p.Gly1320Glu) rs890283765 0.00003
NM_001377.3(DYNC2H1):c.4002G>A (p.Glu1334=) rs886047562 0.00003
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321 0.00003
NM_001377.3(DYNC2H1):c.4962A>T (p.Glu1654Asp) rs751762562 0.00003
NM_001377.3(DYNC2H1):c.5152-3A>C rs372549709 0.00003
NM_001377.3(DYNC2H1):c.5972T>A (p.Met1991Lys) rs1202784860 0.00003
NM_001377.3(DYNC2H1):c.6198G>A (p.Leu2066=) rs770224486 0.00003
NM_001377.3(DYNC2H1):c.6322T>A (p.Ser2108Thr) rs750436227 0.00003
NM_001377.3(DYNC2H1):c.64G>C (p.Gly22Arg) rs751464413 0.00003
NM_001377.3(DYNC2H1):c.6779T>G (p.Leu2260Arg) rs761222472 0.00003
NM_001377.3(DYNC2H1):c.6893+14T>C rs372268543 0.00003
NM_001377.3(DYNC2H1):c.7030C>T (p.Arg2344Cys) rs547419104 0.00003
NM_001377.3(DYNC2H1):c.708A>G (p.Arg236=) rs756550778 0.00003
NM_001377.3(DYNC2H1):c.7149G>A (p.Thr2383=) rs553516014 0.00003
NM_001377.3(DYNC2H1):c.725A>G (p.His242Arg) rs185536034 0.00003
NM_001377.3(DYNC2H1):c.7292+13G>A rs1398795058 0.00003
NM_001377.3(DYNC2H1):c.7385C>T (p.Ser2462Phe) rs770346645 0.00003
NM_001377.3(DYNC2H1):c.7663G>A (p.Val2555Met) rs746195428 0.00003
NM_001377.3(DYNC2H1):c.7735C>T (p.Arg2579Trp) rs775362763 0.00003
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg) rs755505546 0.00003
NM_001377.3(DYNC2H1):c.7847T>C (p.Ile2616Thr) rs761650103 0.00003
NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys) rs371214841 0.00003
NM_001377.3(DYNC2H1):c.8021C>T (p.Ala2674Val) rs779700118 0.00003
NM_001377.3(DYNC2H1):c.828T>C (p.Pro276=) rs1013912636 0.00003
NM_001377.3(DYNC2H1):c.8312-11A>G rs749770515 0.00003
NM_001377.3(DYNC2H1):c.8473A>G (p.Ser2825Gly) rs886047569 0.00003
NM_001377.3(DYNC2H1):c.8536T>C (p.Ser2846Pro) rs767717747 0.00003
NM_001377.3(DYNC2H1):c.8780C>T (p.Thr2927Met) rs752196931 0.00003
NM_001377.3(DYNC2H1):c.9107+13A>G rs769123892 0.00003
NM_001377.3(DYNC2H1):c.9232-8T>C rs909194619 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_020800.3(IFT80):c.1229C>T (p.Pro410Leu) rs148396265 0.00003
NM_020800.3(IFT80):c.1292T>C (p.Ile431Thr) rs777754118 0.00003
NM_020800.3(IFT80):c.1386A>G (p.Glu462=) rs1039675371 0.00003
NM_020800.3(IFT80):c.1412A>G (p.Lys471Arg) rs766798264 0.00003
NM_020800.3(IFT80):c.1413A>C (p.Lys471Asn) rs891175325 0.00003
NM_020800.3(IFT80):c.2034A>T (p.Val678=) rs773068068 0.00003
NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro) rs137853116 0.00003
NM_020800.3(IFT80):c.2307C>T (p.Ser769=) rs565364572 0.00003
NM_020800.3(IFT80):c.370+6T>C rs754136912 0.00003
NM_020800.3(IFT80):c.371-20A>T rs1225608232 0.00003
NM_020800.3(IFT80):c.549+16T>C rs554487138 0.00003
NM_020800.3(IFT80):c.571A>G (p.Ile191Val) rs376853807 0.00003
NM_001080463.2(DYNC2H1):c.9824T>C (p.Ile3275Thr) rs377493103 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.10043-9T>C rs374033001 0.00002
NM_001377.3(DYNC2H1):c.10946G>A (p.Arg3649His) rs753691638 0.00002
NM_001377.3(DYNC2H1):c.10993C>A (p.Leu3665Ile) rs747268336 0.00002
NM_001377.3(DYNC2H1):c.10998A>G (p.Ala3666=) rs758373368 0.00002
NM_001377.3(DYNC2H1):c.11056T>C (p.Leu3686=) rs986262031 0.00002
NM_001377.3(DYNC2H1):c.11139A>G (p.Leu3713=) rs778092263 0.00002
NM_001377.3(DYNC2H1):c.11489A>G (p.Tyr3830Cys) rs757922501 0.00002
NM_001377.3(DYNC2H1):c.11578C>A (p.Arg3860=) rs777253444 0.00002
NM_001377.3(DYNC2H1):c.11679A>C (p.Leu3893Phe) rs748607783 0.00002
NM_001377.3(DYNC2H1):c.11742A>G (p.Gln3914=) rs769560873 0.00002
NM_001377.3(DYNC2H1):c.11887A>G (p.Ser3963Gly) rs373776864 0.00002
NM_001377.3(DYNC2H1):c.12010C>T (p.Arg4004Cys) rs768839818 0.00002
NM_001377.3(DYNC2H1):c.12375C>T (p.Leu4125=) rs770385566 0.00002
NM_001377.3(DYNC2H1):c.12703A>T (p.Asn4235Tyr) rs886047580 0.00002
NM_001377.3(DYNC2H1):c.1309T>G (p.Leu437Val) rs185651613 0.00002
NM_001377.3(DYNC2H1):c.1360+2del rs780539887 0.00002
NM_001377.3(DYNC2H1):c.2345+9T>C rs772122634 0.00002
NM_001377.3(DYNC2H1):c.2385C>G (p.Ile795Met) rs780228819 0.00002
NM_001377.3(DYNC2H1):c.254T>A (p.Val85Glu) rs775389478 0.00002
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs) rs755338872 0.00002
NM_001377.3(DYNC2H1):c.3372C>T (p.Ile1124=) rs774300457 0.00002
NM_001377.3(DYNC2H1):c.348C>T (p.Phe116=) rs776765795 0.00002
NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr) rs137853028 0.00002
NM_001377.3(DYNC2H1):c.4127+10A>G rs369188420 0.00002
NM_001377.3(DYNC2H1):c.4476A>C (p.Leu1492=) rs1392906241 0.00002
NM_001377.3(DYNC2H1):c.4561A>G (p.Thr1521Ala) rs756098102 0.00002
NM_001377.3(DYNC2H1):c.4617A>G (p.Leu1539=) rs931664584 0.00002
NM_001377.3(DYNC2H1):c.4918T>C (p.Cys1640Arg) rs768540376 0.00002
NM_001377.3(DYNC2H1):c.503-18C>G rs199660214 0.00002
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969 0.00002
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser) rs370669724 0.00002
NM_001377.3(DYNC2H1):c.5334+14T>G rs748579012 0.00002
NM_001377.3(DYNC2H1):c.5335-15T>A rs774984944 0.00002
NM_001377.3(DYNC2H1):c.5380G>T (p.Ala1794Ser) rs761506672 0.00002
NM_001377.3(DYNC2H1):c.5443G>A (p.Val1815Ile) rs186344666 0.00002
NM_001377.3(DYNC2H1):c.5547del (p.Phe1849fs) rs771003300 0.00002
NM_001377.3(DYNC2H1):c.5852A>G (p.Asn1951Ser) rs753418235 0.00002
NM_001377.3(DYNC2H1):c.7140+8A>G rs768364364 0.00002
NM_001377.3(DYNC2H1):c.7277G>T (p.Arg2426Leu) rs373521030 0.00002
NM_001377.3(DYNC2H1):c.7293-16A>G rs1324744988 0.00002
NM_001377.3(DYNC2H1):c.7838A>G (p.Lys2613Arg) rs778285080 0.00002
NM_001377.3(DYNC2H1):c.7879A>C (p.Ile2627Leu) rs751745945 0.00002
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032 0.00002
NM_001377.3(DYNC2H1):c.998A>C (p.Glu333Ala) rs763366904 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_015693.4(INTU):c.1288C>T (p.Arg430Cys) rs1227833863 0.00002
NM_020800.3(IFT80):c.1069G>A (p.Val357Met) rs530805244 0.00002
NM_020800.3(IFT80):c.1079C>T (p.Thr360Met) rs371152741 0.00002
NM_020800.3(IFT80):c.1315A>G (p.Ile439Val) rs750652226 0.00002
NM_020800.3(IFT80):c.1316-4del rs758421505 0.00002
NM_020800.3(IFT80):c.1320C>A (p.Ile440=) rs746090893 0.00002
NM_020800.3(IFT80):c.1381-15T>A rs753249289 0.00002
NM_020800.3(IFT80):c.1665-6del rs747849008 0.00002
NM_020800.3(IFT80):c.1910A>G (p.Tyr637Cys) rs949267903 0.00002
NM_020800.3(IFT80):c.2225T>A (p.Leu742His) rs763284318 0.00002
NM_020800.3(IFT80):c.286G>A (p.Gly96Arg) rs760332663 0.00002
NM_020800.3(IFT80):c.371T>C (p.Val124Ala) rs775678547 0.00002
NM_020800.3(IFT80):c.377A>C (p.Glu126Ala) rs574860967 0.00002
NM_020800.3(IFT80):c.938C>T (p.Thr313Met) rs753478409 0.00002
NM_020800.3(IFT80):c.954G>A (p.Met318Ile) rs957922344 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_001286577.2(C2CD3):c.5227G>T (p.Gly1743Cys) rs1064793399 0.00001
NM_001377.3(DYNC2H1):c.-33C>T rs547159267 0.00001
NM_001377.3(DYNC2H1):c.1000-7A>G rs745325616 0.00001
NM_001377.3(DYNC2H1):c.10042+10T>G rs754275993 0.00001
NM_001377.3(DYNC2H1):c.10156A>G (p.Ile3386Val) rs765753338 0.00001
NM_001377.3(DYNC2H1):c.10207-11del rs748441178 0.00001
NM_001377.3(DYNC2H1):c.10241A>G (p.Asp3414Gly) rs1427712341 0.00001
NM_001377.3(DYNC2H1):c.10500C>T (p.Ser3500=) rs1409372884 0.00001
NM_001377.3(DYNC2H1):c.10558T>C (p.Leu3520=) rs759333511 0.00001
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) rs562139820 0.00001
NM_001377.3(DYNC2H1):c.10586G>A (p.Arg3529Gln) rs753895545 0.00001
NM_001377.3(DYNC2H1):c.10606-7T>A rs771905098 0.00001
NM_001377.3(DYNC2H1):c.10662G>A (p.Met3554Ile) rs1453829346 0.00001
NM_001377.3(DYNC2H1):c.1069T>C (p.Cys357Arg) rs1235977629 0.00001
NM_001377.3(DYNC2H1):c.10729C>T (p.Arg3577Ter) rs373536938 0.00001
NM_001377.3(DYNC2H1):c.10844C>T (p.Pro3615Leu) rs1468117934 0.00001
NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=) rs199958495 0.00001
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) rs764926983 0.00001
NM_001377.3(DYNC2H1):c.11095+9G>A rs748308021 0.00001
NM_001377.3(DYNC2H1):c.11096-12T>C rs553039905 0.00001
NM_001377.3(DYNC2H1):c.11229T>C (p.Ala3743=) rs762738219 0.00001
NM_001377.3(DYNC2H1):c.11253C>T (p.His3751=) rs760751244 0.00001
NM_001377.3(DYNC2H1):c.11310T>G (p.Cys3770Trp) rs771899759 0.00001
NM_001377.3(DYNC2H1):c.11412C>G (p.Thr3804=) rs1413586709 0.00001
NM_001377.3(DYNC2H1):c.11466A>G (p.Leu3822=) rs776029594 0.00001
NM_001377.3(DYNC2H1):c.11603C>G (p.Ala3868Gly) rs1213780831 0.00001
NM_001377.3(DYNC2H1):c.11714G>A (p.Arg3905Lys) rs367559900 0.00001
NM_001377.3(DYNC2H1):c.11784A>G (p.Gly3928=) rs200386864 0.00001
NM_001377.3(DYNC2H1):c.11925C>T (p.Cys3975=) rs794727942 0.00001
NM_001377.3(DYNC2H1):c.11970C>T (p.Asp3990=) rs370818346 0.00001
NM_001377.3(DYNC2H1):c.12078A>G (p.Thr4026=) rs1940453412 0.00001
NM_001377.3(DYNC2H1):c.12456+17T>C rs747889821 0.00001
NM_001377.3(DYNC2H1):c.1248+1G>A rs1389651809 0.00001
NM_001377.3(DYNC2H1):c.1248+8A>G rs202130799 0.00001
NM_001377.3(DYNC2H1):c.1249-20C>T rs979448480 0.00001
NM_001377.3(DYNC2H1):c.1249-6T>C rs753712960 0.00001
NM_001377.3(DYNC2H1):c.12495T>C (p.Ser4165=) rs202199079 0.00001
NM_001377.3(DYNC2H1):c.12622C>T (p.Leu4208=) rs752163457 0.00001
NM_001377.3(DYNC2H1):c.12693A>G (p.Gln4231=) rs371640317 0.00001
NM_001377.3(DYNC2H1):c.12766-4A>G rs764918619 0.00001
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu) rs770569272 0.00001
NM_001377.3(DYNC2H1):c.12924G>C (p.Ter4308Tyr) rs199566086 0.00001
NM_001377.3(DYNC2H1):c.1385G>A (p.Arg462Gln) rs772239748 0.00001
NM_001377.3(DYNC2H1):c.1419A>G (p.Pro473=) rs549285919 0.00001
NM_001377.3(DYNC2H1):c.1469G>A (p.Arg490His) rs201484896 0.00001
NM_001377.3(DYNC2H1):c.1476G>A (p.Leu492=) rs1159451413 0.00001
NM_001377.3(DYNC2H1):c.1480T>C (p.Leu494=) rs773206463 0.00001
NM_001377.3(DYNC2H1):c.1506T>C (p.Ile502=) rs754192939 0.00001
NM_001377.3(DYNC2H1):c.1604T>C (p.Phe535Ser) rs1238325809 0.00001
NM_001377.3(DYNC2H1):c.1715A>T (p.Lys572Ile) rs190861340 0.00001
NM_001377.3(DYNC2H1):c.1752A>G (p.Arg584=) rs1257969828 0.00001
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) rs137853030 0.00001
NM_001377.3(DYNC2H1):c.1857+8A>G rs751414927 0.00001
NM_001377.3(DYNC2H1):c.1858-15A>T rs1325304956 0.00001
NM_001377.3(DYNC2H1):c.196-6C>G rs1252539726 0.00001
NM_001377.3(DYNC2H1):c.1967G>A (p.Gly656Glu) rs1859382317 0.00001
NM_001377.3(DYNC2H1):c.2142G>C (p.Gln714His) rs182352825 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.2439T>C (p.Phe813=) rs143172984 0.00001
NM_001377.3(DYNC2H1):c.2470A>G (p.Ile824Val) rs758399640 0.00001
NM_001377.3(DYNC2H1):c.2574+9C>T rs777840832 0.00001
NM_001377.3(DYNC2H1):c.2702+9G>C rs373942624 0.00001
NM_001377.3(DYNC2H1):c.2703-14T>C rs755481753 0.00001
NM_001377.3(DYNC2H1):c.2920A>G (p.Ser974Gly) rs775896895 0.00001
NM_001377.3(DYNC2H1):c.2922T>C (p.Ser974=) rs761013187 0.00001
NM_001377.3(DYNC2H1):c.2946+16T>C rs767276261 0.00001
NM_001377.3(DYNC2H1):c.2996C>T (p.Thr999Ile) rs753542063 0.00001
NM_001377.3(DYNC2H1):c.2del (p.Met1fs) rs752782000 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.3096+8T>G rs1310378983 0.00001
NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter) rs755305630 0.00001
NM_001377.3(DYNC2H1):c.3318T>C (p.His1106=) rs1483760923 0.00001
NM_001377.3(DYNC2H1):c.3337A>G (p.Asn1113Asp) rs1425616959 0.00001
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868 0.00001
NM_001377.3(DYNC2H1):c.3458G>A (p.Arg1153Gln) rs869312924 0.00001
NM_001377.3(DYNC2H1):c.3574A>G (p.Ile1192Val) rs1421509501 0.00001
NM_001377.3(DYNC2H1):c.366+12A>G rs759952846 0.00001
NM_001377.3(DYNC2H1):c.3793C>T (p.Arg1265Cys) rs576131731 0.00001
NM_001377.3(DYNC2H1):c.3807T>C (p.Leu1269=) rs373847672 0.00001
NM_001377.3(DYNC2H1):c.3915T>C (p.Asn1305=) rs760565304 0.00001
NM_001377.3(DYNC2H1):c.3969T>C (p.Asp1323=) rs761717668 0.00001
NM_001377.3(DYNC2H1):c.4233T>C (p.Cys1411=) rs749077356 0.00001
NM_001377.3(DYNC2H1):c.4260+9T>C rs775413322 0.00001
NM_001377.3(DYNC2H1):c.4295T>C (p.Ile1432Thr) rs776944417 0.00001
NM_001377.3(DYNC2H1):c.4369C>A (p.Leu1457Ile) rs778829457 0.00001
NM_001377.3(DYNC2H1):c.439A>G (p.Ile147Val) rs915084265 0.00001
NM_001377.3(DYNC2H1):c.4477T>A (p.Ser1493Thr) rs748170980 0.00001
NM_001377.3(DYNC2H1):c.4491+5G>A rs749681136 0.00001
NM_001377.3(DYNC2H1):c.4611+14C>T rs766124250 0.00001
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862 0.00001
NM_001377.3(DYNC2H1):c.466T>A (p.Leu156Ile) rs765931519 0.00001
NM_001377.3(DYNC2H1):c.4923T>C (p.Cys1641=) rs376188702 0.00001
NM_001377.3(DYNC2H1):c.4969-12G>A rs1416444641 0.00001
NM_001377.3(DYNC2H1):c.4969-6G>T rs769738447 0.00001
NM_001377.3(DYNC2H1):c.503-3T>C rs368561058 0.00001
NM_001377.3(DYNC2H1):c.5134G>C (p.Val1712Leu) rs1861515366 0.00001
NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter) rs772321133 0.00001
NM_001377.3(DYNC2H1):c.519C>T (p.Ser173=) rs753800897 0.00001
NM_001377.3(DYNC2H1):c.5335-14A>G rs372488002 0.00001
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=) rs886047564 0.00001
NM_001377.3(DYNC2H1):c.54G>T (p.Gln18His) rs762801465 0.00001
NM_001377.3(DYNC2H1):c.5512G>A (p.Ala1838Thr) rs777912444 0.00001
NM_001377.3(DYNC2H1):c.5690T>C (p.Ile1897Thr) rs141509896 0.00001
NM_001377.3(DYNC2H1):c.570T>C (p.Ile190=) rs1159253078 0.00001
NM_001377.3(DYNC2H1):c.5748C>T (p.Thr1916=) rs771940514 0.00001
NM_001377.3(DYNC2H1):c.5760A>C (p.Ala1920=) rs932048082 0.00001
NM_001377.3(DYNC2H1):c.5855A>T (p.Tyr1952Phe) rs756750628 0.00001
NM_001377.3(DYNC2H1):c.6051A>G (p.Gln2017=) rs1261404836 0.00001
NM_001377.3(DYNC2H1):c.6177C>T (p.Asp2059=) rs180806841 0.00001
NM_001377.3(DYNC2H1):c.6299G>A (p.Ser2100Asn) rs780161589 0.00001
NM_001377.3(DYNC2H1):c.6347+19A>G rs781430532 0.00001
NM_001377.3(DYNC2H1):c.6372T>C (p.Ser2124=) rs1386325793 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.6667T>A (p.Phe2223Ile) rs191633349 0.00001
NM_001377.3(DYNC2H1):c.6676C>T (p.Pro2226Ser) rs912686507 0.00001
NM_001377.3(DYNC2H1):c.6723T>C (p.Tyr2241=) rs764773100 0.00001
NM_001377.3(DYNC2H1):c.739C>T (p.Arg247Ter) rs561778796 0.00001
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849 0.00001
NM_001377.3(DYNC2H1):c.7438-12T>C rs746941409 0.00001
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873 0.00001
NM_001377.3(DYNC2H1):c.7607G>A (p.Arg2536His) rs376790555 0.00001
NM_001377.3(DYNC2H1):c.767-2A>G rs762873763 0.00001
NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=) rs886047566 0.00001
NM_001377.3(DYNC2H1):c.7839+6A>G rs1432491048 0.00001
NM_001377.3(DYNC2H1):c.783G>A (p.Arg261=) rs774350008 0.00001
NM_001377.3(DYNC2H1):c.7942G>A (p.Gly2648Arg) rs1486830954 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.8346G>A (p.Met2782Ile) rs774895745 0.00001
NM_001377.3(DYNC2H1):c.8361A>C (p.Ser2787=) rs768132660 0.00001
NM_001377.3(DYNC2H1):c.8457A>G (p.Ile2819Met) rs1060501431 0.00001
NM_001377.3(DYNC2H1):c.8513G>A (p.Arg2838Gln) rs766069993 0.00001
NM_001377.3(DYNC2H1):c.8540-19A>G rs1243511944 0.00001
NM_001377.3(DYNC2H1):c.8621C>T (p.Thr2874Ile) rs1274718345 0.00001
NM_001377.3(DYNC2H1):c.8692C>G (p.Gln2898Glu) rs1158593749 0.00001
NM_001377.3(DYNC2H1):c.8694+1G>T rs1455606327 0.00001
NM_001377.3(DYNC2H1):c.8719G>A (p.Ala2907Thr) rs1863353530 0.00001
NM_001377.3(DYNC2H1):c.8943A>G (p.Val2981=) rs1473860564 0.00001
NM_001377.3(DYNC2H1):c.8946+10A>C rs550521675 0.00001
NM_001377.3(DYNC2H1):c.8991C>T (p.Pro2997=) rs765905797 0.00001
NM_001377.3(DYNC2H1):c.9300C>G (p.Ser3100=) rs767898390 0.00001
NM_001377.3(DYNC2H1):c.9354-17A>G rs779447871 0.00001
NM_001377.3(DYNC2H1):c.9384G>A (p.Arg3128=) rs930832327 0.00001
NM_001377.3(DYNC2H1):c.9391G>A (p.Glu3131Lys) rs983700534 0.00001
NM_001377.3(DYNC2H1):c.9441-15T>G rs758850667 0.00001
NM_001377.3(DYNC2H1):c.9441-4A>G rs1456316382 0.00001
NM_001377.3(DYNC2H1):c.9577A>G (p.Ile3193Val) rs886047571 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_001377.3(DYNC2H1):c.9919-20A>G rs555124116 0.00001
NM_001377.3(DYNC2H1):c.9C>T (p.Asn3=) rs1471623012 0.00001
NM_020779.4(WDR35):c.1400+3A>G rs776631281 0.00001
NM_020800.3(IFT80):c.1006A>G (p.Arg336Gly) rs775835775 0.00001
NM_020800.3(IFT80):c.1053G>A (p.Thr351=) rs746236656 0.00001
NM_020800.3(IFT80):c.1121G>A (p.Gly374Glu) rs1448235153 0.00001
NM_020800.3(IFT80):c.1151+15T>A rs1334712064 0.00001
NM_020800.3(IFT80):c.1151+8A>G rs759719560 0.00001
NM_020800.3(IFT80):c.1158T>A (p.Phe386Leu) rs755957651 0.00001
NM_020800.3(IFT80):c.1215A>G (p.Ser405=) rs761190913 0.00001
NM_020800.3(IFT80):c.1219C>T (p.Pro407Ser) rs1345262813 0.00001
NM_020800.3(IFT80):c.1293A>T (p.Ile431=) rs1716374776 0.00001
NM_020800.3(IFT80):c.1303G>A (p.Ala435Thr) rs747879864 0.00001
NM_020800.3(IFT80):c.1315+8T>C rs765339125 0.00001
NM_020800.3(IFT80):c.1316T>G (p.Ile439Arg) rs780934693 0.00001
NM_020800.3(IFT80):c.1326C>T (p.Leu442=) rs886058131 0.00001
NM_020800.3(IFT80):c.1341C>T (p.Thr447=) rs779074288 0.00001
NM_020800.3(IFT80):c.1342G>A (p.Gly448Arg) rs757507718 0.00001
NM_020800.3(IFT80):c.1376A>G (p.His459Arg) rs1351949409 0.00001
NM_020800.3(IFT80):c.13A>C (p.Ile5Leu) rs184680258 0.00001
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly) rs554335278 0.00001
NM_020800.3(IFT80):c.1522A>G (p.Met508Val) rs747457756 0.00001
NM_020800.3(IFT80):c.1546G>A (p.Asp516Asn) rs1328308378 0.00001
NM_020800.3(IFT80):c.1552T>C (p.Cys518Arg) rs1418914019 0.00001
NM_020800.3(IFT80):c.1554C>T (p.Cys518=) rs1163987189 0.00001
NM_020800.3(IFT80):c.1560C>T (p.Ile520=) rs572926587 0.00001
NM_020800.3(IFT80):c.156G>A (p.Lys52=) rs746919440 0.00001
NM_020800.3(IFT80):c.1607A>G (p.Asn536Ser) rs1299756605 0.00001
NM_020800.3(IFT80):c.1610C>G (p.Thr537Arg) rs149274965 0.00001
NM_020800.3(IFT80):c.1627G>A (p.Asp543Asn) rs535870220 0.00001
NM_020800.3(IFT80):c.1628A>G (p.Asp543Gly) rs746408528 0.00001
NM_020800.3(IFT80):c.1664+15C>T rs752199749 0.00001
NM_020800.3(IFT80):c.1664+8T>C rs755731425 0.00001
NM_020800.3(IFT80):c.1665-15T>C rs749606176 0.00001
NM_020800.3(IFT80):c.1675A>G (p.Lys559Glu) rs1248669654 0.00001
NM_020800.3(IFT80):c.1715C>T (p.Thr572Ile) rs751538474 0.00001
NM_020800.3(IFT80):c.178A>G (p.Ile60Val) rs780018349 0.00001
NM_020800.3(IFT80):c.1836+5T>C rs373116334 0.00001
NM_020800.3(IFT80):c.1858C>G (p.Leu620Val) rs1037844686 0.00001
NM_020800.3(IFT80):c.1882C>T (p.Arg628Ter) rs781436346 0.00001
NM_020800.3(IFT80):c.1954A>G (p.Ile652Val) rs779103873 0.00001
NM_020800.3(IFT80):c.1962T>C (p.Asn654=) rs757868715 0.00001
NM_020800.3(IFT80):c.1997T>C (p.Leu666Pro) rs754345105 0.00001
NM_020800.3(IFT80):c.2116G>A (p.Val706Ile) rs943067730 0.00001
NM_020800.3(IFT80):c.2149G>A (p.Ala717Thr) rs370294182 0.00001
NM_020800.3(IFT80):c.2151T>A (p.Ala717=) rs749975436 0.00001
NM_020800.3(IFT80):c.2155C>T (p.Arg719Cys) rs764764460 0.00001
NM_020800.3(IFT80):c.2179G>A (p.Gly727Ser) rs977361551 0.00001
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter) rs375941259 0.00001
NM_020800.3(IFT80):c.2244A>T (p.Lys748Asn) rs769905264 0.00001
NM_020800.3(IFT80):c.2245A>G (p.Ile749Val) rs891421267 0.00001
NM_020800.3(IFT80):c.2297G>C (p.Ser766Thr) rs745522185 0.00001
NM_020800.3(IFT80):c.259+18A>G rs555123804 0.00001
NM_020800.3(IFT80):c.260-9T>G rs1366678504 0.00001
NM_020800.3(IFT80):c.269A>G (p.His90Arg) rs762134619 0.00001
NM_020800.3(IFT80):c.348T>C (p.Tyr116=) rs1223074347 0.00001
NM_020800.3(IFT80):c.352G>A (p.Gly118Arg) rs1193677073 0.00001
NM_020800.3(IFT80):c.37+20A>G rs1382715287 0.00001
NM_020800.3(IFT80):c.371-11T>C rs1339121948 0.00001
NM_020800.3(IFT80):c.371-7T>C rs773095033 0.00001
NM_020800.3(IFT80):c.38-1C>G rs779785603 0.00001
NM_020800.3(IFT80):c.440-8T>A rs367575772 0.00001
NM_020800.3(IFT80):c.461C>T (p.Ala154Val) rs899479641 0.00001
NM_020800.3(IFT80):c.517A>C (p.Lys173Gln) rs1327849611 0.00001
NM_020800.3(IFT80):c.521C>T (p.Pro174Leu) rs554727578 0.00001
NM_020800.3(IFT80):c.599A>G (p.Asn200Ser) rs1468017879 0.00001
NM_020800.3(IFT80):c.612A>G (p.Leu204=) rs1359553849 0.00001
NM_020800.3(IFT80):c.619G>A (p.Gly207Ser) rs756838676 0.00001
NM_020800.3(IFT80):c.624A>C (p.Glu208Asp) rs1278015440 0.00001
NM_020800.3(IFT80):c.639+5A>G rs527856744 0.00001
NM_020800.3(IFT80):c.658C>T (p.Arg220Cys) rs373133351 0.00001
NM_020800.3(IFT80):c.680C>T (p.Pro227Leu) rs764107423 0.00001
NM_020800.3(IFT80):c.685G>A (p.Glu229Lys) rs1721069446 0.00001
NM_020800.3(IFT80):c.743C>T (p.Ser248Leu) rs754764834 0.00001
NM_020800.3(IFT80):c.819T>C (p.Phe273=) rs1576803474 0.00001
NM_020800.3(IFT80):c.837C>T (p.Ile279=) rs750697170 0.00001
NM_020800.3(IFT80):c.939G>A (p.Thr313=) rs763666588 0.00001
NM_020800.3(IFT80):c.958-7T>C rs766913544 0.00001
NM_020800.3(IFT80):c.991C>T (p.Leu331=) rs920853278 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_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.1248T>C (p.Asn416=) rs772867899 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_025132.4(WDR19):c.3758G>A (p.Cys1253Tyr) rs750716949 0.00001
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys) rs1247231925 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.(?_159976313)_(159976443_?)dup
NC_000003.11:g.(?_159976313)_(160075386_?)dup
NC_000003.11:g.(?_159976313)_(160102388_?)dup
NC_000003.11:g.(?_159992649)_(160000363_?)del
NC_000003.11:g.(?_160000246)_(160003676_?)del
NC_000003.11:g.(?_160073781)_(160083960_?)del
NC_000003.11:g.(?_160073781)_(160099532_?)del
NC_000003.11:g.(?_160075257)_(160075386_?)del
NC_000003.11:g.(?_160083811)_(160099532_?)del
NC_000003.12:g.(?_160299237)_(160319939_?)del
NC_000003.12:g.160307782_160307783insACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAACATTACGAACC
NC_000011.10:g.(?_103282179)_(103282229_?)del
NC_000011.10:g.(?_103303073)_(103316640_?)del
NC_000011.10:g.(?_103479075)_(103479273_?)dup
NC_000011.9:g.(?_101323686)_(103349981_?)del
NC_000011.9:g.(?_102980304)_(103194738_?)dup
NC_000011.9:g.(?_102980304)_(103349981_?)dup
NC_000011.9:g.(?_103039464)_(103041817_?)del
NC_000011.9:g.(?_103228951)_(103229107_?)del
NC_000011.9:g.(?_103325894)_(103349981_?)del
NC_000011.9:g.(?_103325894)_(103349981_?)dup
NC_000011.9:g.(?_103349803)_(103349981_?)dup
NM_001080463.1(DYNC2H1):c.7141delG rs1160036887
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
NM_001080463.1(DYNC2H1):c.[12602C>T;9865G>A]
NM_001080463.2(DYNC2H1):c.9820A>T (p.Ile3274Phe)
NM_001080463.2(DYNC2H1):c.9837A>G (p.Ser3279=)
NM_001080463.2(DYNC2H1):c.9838T>C (p.Trp3280Arg) rs2135218261
NM_001080463.2(DYNC2H1):c.9839G>A (p.Trp3280Ter) rs1565423740
NM_001102564.3(IFT43):c.8A>G (p.Asp3Gly) rs144776609
NM_001329943.3(KIAA0586):c.3398del (p.Leu1133fs) rs1566883760
NM_001377.3(DYNC2H1):c.1000-13T>C
NM_001377.3(DYNC2H1):c.1000-16T>C
NM_001377.3(DYNC2H1):c.1000-20G>C rs2134713164
NM_001377.3(DYNC2H1):c.1000-8C>T
NM_001377.3(DYNC2H1):c.10001C>G (p.Pro3334Arg) rs1565426918
NM_001377.3(DYNC2H1):c.1000G>A (p.Val334Ile) rs1273059968
NM_001377.3(DYNC2H1):c.10011T>C (p.Tyr3337=)
NM_001377.3(DYNC2H1):c.10014A>G (p.Pro3338=)
NM_001377.3(DYNC2H1):c.10017A>G (p.Leu3339=)
NM_001377.3(DYNC2H1):c.10018T>C (p.Leu3340=)
NM_001377.3(DYNC2H1):c.10021A>C (p.Arg3341=) rs886047573
NM_001377.3(DYNC2H1):c.10026A>C (p.Arg3342=)
NM_001377.3(DYNC2H1):c.10039C>T (p.Gln3347Ter)
NM_001377.3(DYNC2H1):c.10042+10T>A
NM_001377.3(DYNC2H1):c.10042+11G>A
NM_001377.3(DYNC2H1):c.10042+18T>G
NM_001377.3(DYNC2H1):c.10042+1G>A
NM_001377.3(DYNC2H1):c.10042+7_10042+10del rs1483149779
NM_001377.3(DYNC2H1):c.10043-13T>C
NM_001377.3(DYNC2H1):c.10043-14_10043-13insG
NM_001377.3(DYNC2H1):c.10043-16_10043-15insTT rs763760061
NM_001377.3(DYNC2H1):c.10043-16dup rs763760061
NM_001377.3(DYNC2H1):c.10043-19G>T
NM_001377.3(DYNC2H1):c.10043-7dup rs571044263
NM_001377.3(DYNC2H1):c.10047A>G (p.Pro3349=)
NM_001377.3(DYNC2H1):c.10059A>C (p.Val3353=)
NM_001377.3(DYNC2H1):c.10065A>T (p.Ile3355=)
NM_001377.3(DYNC2H1):c.10068T>G (p.Gly3356=)
NM_001377.3(DYNC2H1):c.10080T>A (p.Ile3360=)
NM_001377.3(DYNC2H1):c.10088A>G (p.Asn3363Ser)
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.10101C>A (p.Arg3367=)
NM_001377.3(DYNC2H1):c.10104C>G (p.Leu3368=)
NM_001377.3(DYNC2H1):c.10105T>C (p.Phe3369Leu) rs1555081345
NM_001377.3(DYNC2H1):c.10108T>C (p.Leu3370=)
NM_001377.3(DYNC2H1):c.10109del (p.Leu3370fs) rs431905500
NM_001377.3(DYNC2H1):c.10116A>C (p.Thr3372=)
NM_001377.3(DYNC2H1):c.10122C>T (p.Asn3374=)
NM_001377.3(DYNC2H1):c.10131T>A (p.Pro3377=)
NM_001377.3(DYNC2H1):c.10134T>C (p.Phe3378=)
NM_001377.3(DYNC2H1):c.10141C>T (p.Pro3381Ser)
NM_001377.3(DYNC2H1):c.10143G>T (p.Pro3381=)
NM_001377.3(DYNC2H1):c.10144del (p.Asp3382fs)
NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=) rs886047574
NM_001377.3(DYNC2H1):c.10164T>A (p.Thr3388=) rs11225634
NM_001377.3(DYNC2H1):c.10164T>G (p.Thr3388=) rs11225634
NM_001377.3(DYNC2H1):c.10167G>A (p.Glu3389=)
NM_001377.3(DYNC2H1):c.10176T>C (p.Phe3392=)
NM_001377.3(DYNC2H1):c.10179T>C (p.Thr3393=)
NM_001377.3(DYNC2H1):c.10181CAA[1] (p.Thr3395del) rs572595399
NM_001377.3(DYNC2H1):c.10183A>G (p.Thr3395Ala) rs757061327
NM_001377.3(DYNC2H1):c.10184C>G (p.Thr3395Arg) rs778720641
NM_001377.3(DYNC2H1):c.10186A>C (p.Arg3396=)
NM_001377.3(DYNC2H1):c.10196T>A (p.Leu3399Ter)
NM_001377.3(DYNC2H1):c.10206+10G>A
NM_001377.3(DYNC2H1):c.10206+10G>C
NM_001377.3(DYNC2H1):c.10206+11A>T
NM_001377.3(DYNC2H1):c.10206+11ATA[2]
NM_001377.3(DYNC2H1):c.10206+14A>G
NM_001377.3(DYNC2H1):c.10206+6C>T rs1591478542
NM_001377.3(DYNC2H1):c.10206+6_10206+9dup
NM_001377.3(DYNC2H1):c.10206+7A>G
NM_001377.3(DYNC2H1):c.10207-10T>C
NM_001377.3(DYNC2H1):c.10207-16T>G
NM_001377.3(DYNC2H1):c.10207-1G>C
NM_001377.3(DYNC2H1):c.10207-20T>A
NM_001377.3(DYNC2H1):c.10207-7T>C
NM_001377.3(DYNC2H1):c.10209T>G (p.Leu3403=)
NM_001377.3(DYNC2H1):c.10210T>C (p.Leu3404=)
NM_001377.3(DYNC2H1):c.10221C>T (p.Thr3407=)
NM_001377.3(DYNC2H1):c.10227G>A (p.Gln3409=)
NM_001377.3(DYNC2H1):c.10237C>G (p.Pro3413Ala) rs786204223
NM_001377.3(DYNC2H1):c.10242T>C (p.Asp3414=)
NM_001377.3(DYNC2H1):c.10252C>A (p.Gln3418Lys) rs543525711
NM_001377.3(DYNC2H1):c.10252C>G (p.Gln3418Glu) rs543525711
NM_001377.3(DYNC2H1):c.10252C>T (p.Gln3418Ter)
NM_001377.3(DYNC2H1):c.10267T>C (p.Leu3423=)
NM_001377.3(DYNC2H1):c.10268del (p.Leu3423fs)
NM_001377.3(DYNC2H1):c.10270C>T (p.Gln3424Ter)
NM_001377.3(DYNC2H1):c.10272A>G (p.Gln3424=)
NM_001377.3(DYNC2H1):c.10275G>A (p.Gln3425=)
NM_001377.3(DYNC2H1):c.10292T>C (p.Ile3431Thr) rs1325471732
NM_001377.3(DYNC2H1):c.10294C>T (p.Gln3432Ter)
NM_001377.3(DYNC2H1):c.10305G>A (p.Lys3435=)
NM_001377.3(DYNC2H1):c.10308C>T (p.Leu3436=) rs991452927
NM_001377.3(DYNC2H1):c.10314A>T (p.Glu3438Asp)
NM_001377.3(DYNC2H1):c.10326+13C>T
NM_001377.3(DYNC2H1):c.10326+6A>G rs750262824
NM_001377.3(DYNC2H1):c.10326+7G>A
NM_001377.3(DYNC2H1):c.10326+7G>C
NM_001377.3(DYNC2H1):c.10326+9C>T
NM_001377.3(DYNC2H1):c.10327-10T>C
NM_001377.3(DYNC2H1):c.10327-18T>G
NM_001377.3(DYNC2H1):c.10327-18del
NM_001377.3(DYNC2H1):c.10327-6C>T
NM_001377.3(DYNC2H1):c.10327-7C>T
NM_001377.3(DYNC2H1):c.10329A>G (p.Thr3443=)
NM_001377.3(DYNC2H1):c.10333dup (p.Ala3445fs)
NM_001377.3(DYNC2H1):c.10335C>G (p.Ala3445=)
NM_001377.3(DYNC2H1):c.10338A>T (p.Thr3446=)
NM_001377.3(DYNC2H1):c.10342C>T (p.Gln3448Ter)
NM_001377.3(DYNC2H1):c.10345G>A (p.Gly3449Ser)
NM_001377.3(DYNC2H1):c.10350T>C (p.Asn3450=)
NM_001377.3(DYNC2H1):c.10365G>A (p.Lys3455=)
NM_001377.3(DYNC2H1):c.10407A>C (p.Ala3469=)
NM_001377.3(DYNC2H1):c.10419G>A (p.Glu3473=)
NM_001377.3(DYNC2H1):c.10429G>T (p.Glu3477Ter)
NM_001377.3(DYNC2H1):c.10445A>G (p.Gln3482Arg)
NM_001377.3(DYNC2H1):c.1044A>G (p.Leu348=)
NM_001377.3(DYNC2H1):c.10451C>G (p.Ser3484Cys)
NM_001377.3(DYNC2H1):c.10455T>C (p.Leu3485=)
NM_001377.3(DYNC2H1):c.10461+14T>C
NM_001377.3(DYNC2H1):c.10462-10del
NM_001377.3(DYNC2H1):c.10462-13T>C
NM_001377.3(DYNC2H1):c.10462-2A>G
NM_001377.3(DYNC2H1):c.10462-4A>C
NM_001377.3(DYNC2H1):c.10462-4A>G
NM_001377.3(DYNC2H1):c.10465C>T (p.Arg3489Trp)
NM_001377.3(DYNC2H1):c.10466G>T (p.Arg3489Leu) rs755858936
NM_001377.3(DYNC2H1):c.10473C>A (p.Ala3491=)
NM_001377.3(DYNC2H1):c.10482C>G (p.Pro3494=)
NM_001377.3(DYNC2H1):c.10495_10496delinsTT (p.Ala3499Phe) rs2135267286
NM_001377.3(DYNC2H1):c.10497C>T (p.Ala3499=)
NM_001377.3(DYNC2H1):c.10524T>C (p.Asp3508=)
NM_001377.3(DYNC2H1):c.10549C>T (p.Arg3517Cys)
NM_001377.3(DYNC2H1):c.10554T>C (p.Phe3518=)
NM_001377.3(DYNC2H1):c.10591C>T (p.Leu3531=)
NM_001377.3(DYNC2H1):c.10593A>G (p.Leu3531=)
NM_001377.3(DYNC2H1):c.10600A>G (p.Lys3534Glu)
NM_001377.3(DYNC2H1):c.10605+13A>G
NM_001377.3(DYNC2H1):c.10605+16C>A
NM_001377.3(DYNC2H1):c.10605+17C>T
NM_001377.3(DYNC2H1):c.10605+18C>G
NM_001377.3(DYNC2H1):c.10605+18del
NM_001377.3(DYNC2H1):c.10605+1G>T
NM_001377.3(DYNC2H1):c.10605+8G>A
NM_001377.3(DYNC2H1):c.10605+8del
NM_001377.3(DYNC2H1):c.10606-11A>G
NM_001377.3(DYNC2H1):c.10606-16C>T
NM_001377.3(DYNC2H1):c.10606-17C>T
NM_001377.3(DYNC2H1):c.10606-4A>G
NM_001377.3(DYNC2H1):c.10606-6C>T rs1020258384
NM_001377.3(DYNC2H1):c.10632C>T (p.Ile3544=)
NM_001377.3(DYNC2H1):c.10638A>C (p.Ser3546=)
NM_001377.3(DYNC2H1):c.10645dup (p.Ser3549fs)
NM_001377.3(DYNC2H1):c.10647C>T (p.Ser3549=)
NM_001377.3(DYNC2H1):c.10668T>C (p.Tyr3556=)
NM_001377.3(DYNC2H1):c.1066A>G (p.Ile356Val)
NM_001377.3(DYNC2H1):c.10684_10686del (p.Cys3562del) rs2135273195
NM_001377.3(DYNC2H1):c.10687C>T (p.Leu3563=)
NM_001377.3(DYNC2H1):c.10689A>G (p.Leu3563=)
NM_001377.3(DYNC2H1):c.10690_10693del (p.Phe3564fs)
NM_001377.3(DYNC2H1):c.10695+10A>T
NM_001377.3(DYNC2H1):c.10695+11T>C
NM_001377.3(DYNC2H1):c.10695+19T>C
NM_001377.3(DYNC2H1):c.10695+20del
NM_001377.3(DYNC2H1):c.10695+8G>A
NM_001377.3(DYNC2H1):c.10695+9C>A
NM_001377.3(DYNC2H1):c.10696-11A>G
NM_001377.3(DYNC2H1):c.10696-16_10696-15del
NM_001377.3(DYNC2H1):c.10707G>A (p.Leu3569=)
NM_001377.3(DYNC2H1):c.10716T>C (p.Ala3572=)
NM_001377.3(DYNC2H1):c.10740T>C (p.His3580=)
NM_001377.3(DYNC2H1):c.10761+10A>G
NM_001377.3(DYNC2H1):c.10761+15A>G
NM_001377.3(DYNC2H1):c.10761+1G>A
NM_001377.3(DYNC2H1):c.10761+20A>G
NM_001377.3(DYNC2H1):c.10761+7C>A
NM_001377.3(DYNC2H1):c.10761+7C>T
NM_001377.3(DYNC2H1):c.10762-17A>G
NM_001377.3(DYNC2H1):c.10762-20C>T
NM_001377.3(DYNC2H1):c.10762-7T>A
NM_001377.3(DYNC2H1):c.10762-9A>G
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.10808A>C (p.Lys3603Thr)
NM_001377.3(DYNC2H1):c.10812+17A>C
NM_001377.3(DYNC2H1):c.10812+18_10812+19del
NM_001377.3(DYNC2H1):c.10812+19A>G
NM_001377.3(DYNC2H1):c.10813-12C>T
NM_001377.3(DYNC2H1):c.10813-13G>C
NM_001377.3(DYNC2H1):c.10813-16A>C
NM_001377.3(DYNC2H1):c.10818T>C (p.Ser3606=)
NM_001377.3(DYNC2H1):c.10821A>G (p.Gln3607=)
NM_001377.3(DYNC2H1):c.10822C>T (p.Gln3608Ter)
NM_001377.3(DYNC2H1):c.10826A>G (p.Lys3609Arg)
NM_001377.3(DYNC2H1):c.10828dup (p.Ile3610fs)
NM_001377.3(DYNC2H1):c.10830A>T (p.Ile3610=)
NM_001377.3(DYNC2H1):c.10837C>T (p.Gln3613Ter)
NM_001377.3(DYNC2H1):c.10856A>C (p.Asp3619Ala) rs370414127
NM_001377.3(DYNC2H1):c.10863A>G (p.Glu3621=)
NM_001377.3(DYNC2H1):c.10864C>T (p.Arg3622Ter)
NM_001377.3(DYNC2H1):c.10865G>C (p.Arg3622Pro)
NM_001377.3(DYNC2H1):c.10875C>T (p.Ala3625=)
NM_001377.3(DYNC2H1):c.10881A>G (p.Ala3627=)
NM_001377.3(DYNC2H1):c.10884A>C (p.Thr3628=) rs371844948
NM_001377.3(DYNC2H1):c.10884A>G (p.Thr3628=)
NM_001377.3(DYNC2H1):c.10887A>G (p.Leu3629=)
NM_001377.3(DYNC2H1):c.10890+10_10890+11insA
NM_001377.3(DYNC2H1):c.10890+11T>G
NM_001377.3(DYNC2H1):c.10890+17A>G
NM_001377.3(DYNC2H1):c.10890+17A>T
NM_001377.3(DYNC2H1):c.10890+18T>G
NM_001377.3(DYNC2H1):c.10891-17C>T
NM_001377.3(DYNC2H1):c.10891-18G>C
NM_001377.3(DYNC2H1):c.10891-6T>G
NM_001377.3(DYNC2H1):c.10891-7T>A
NM_001377.3(DYNC2H1):c.10891-7T>G
NM_001377.3(DYNC2H1):c.10891-9A>G rs2135352679
NM_001377.3(DYNC2H1):c.10893T>C (p.Ile3631=)
NM_001377.3(DYNC2H1):c.108T>C (p.Cys36=)
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser) rs769053227
NM_001377.3(DYNC2H1):c.10902C>T (p.Pro3634=)
NM_001377.3(DYNC2H1):c.10908T>G (p.Leu3636=)
NM_001377.3(DYNC2H1):c.10910A>G (p.Tyr3637Cys)
NM_001377.3(DYNC2H1):c.10918del (p.Leu3640fs) rs759649136
NM_001377.3(DYNC2H1):c.10920C>A (p.Leu3640=) rs530445230
NM_001377.3(DYNC2H1):c.10920C>T (p.Leu3640=)
NM_001377.3(DYNC2H1):c.10927G>A (p.Glu3643Lys)
NM_001377.3(DYNC2H1):c.10941G>A (p.Leu3647=)
NM_001377.3(DYNC2H1):c.10945C>A (p.Arg3649Ser) rs763800155
NM_001377.3(DYNC2H1):c.10953T>C (p.Tyr3651=)
NM_001377.3(DYNC2H1):c.10974G>A (p.Glu3658=)
NM_001377.3(DYNC2H1):c.10975C>G (p.Gln3659Glu) rs200340319
NM_001377.3(DYNC2H1):c.10990A>G (p.Ile3664Val) rs1866352347
NM_001377.3(DYNC2H1):c.11004A>G (p.Lys3668=)
NM_001377.3(DYNC2H1):c.1100G>A (p.Gly367Asp)
NM_001377.3(DYNC2H1):c.11022+15_11022+63dup
NM_001377.3(DYNC2H1):c.11022+17T>A
NM_001377.3(DYNC2H1):c.11022+9T>C
NM_001377.3(DYNC2H1):c.11023-17C>T
NM_001377.3(DYNC2H1):c.11028T>C (p.Leu3676=)
NM_001377.3(DYNC2H1):c.11039_11040delinsTA (p.Ala3680Val)
NM_001377.3(DYNC2H1):c.11061A>G (p.Gln3687=)
NM_001377.3(DYNC2H1):c.11082A>G (p.Ala3694=)
NM_001377.3(DYNC2H1):c.11092C>T (p.Leu3698=)
NM_001377.3(DYNC2H1):c.11095+13C>G
NM_001377.3(DYNC2H1):c.11095+13C>T
NM_001377.3(DYNC2H1):c.11095+7G>C
NM_001377.3(DYNC2H1):c.11096-10T>C
NM_001377.3(DYNC2H1):c.11096-16A>C
NM_001377.3(DYNC2H1):c.11096-16A>T
NM_001377.3(DYNC2H1):c.11096-8T>C
NM_001377.3(DYNC2H1):c.11096-9A>G
NM_001377.3(DYNC2H1):c.11100G>A (p.Leu3700=)
NM_001377.3(DYNC2H1):c.11106G>A (p.Glu3702=)
NM_001377.3(DYNC2H1):c.11122C>T (p.Leu3708=)
NM_001377.3(DYNC2H1):c.11145A>G (p.Lys3715=)
NM_001377.3(DYNC2H1):c.11151A>G (p.Thr3717=)
NM_001377.3(DYNC2H1):c.11160T>C (p.Ile3720=)
NM_001377.3(DYNC2H1):c.11169C>T (p.Ile3723=)
NM_001377.3(DYNC2H1):c.11184T>A (p.Ser3728=) rs863224375
NM_001377.3(DYNC2H1):c.11230G>T (p.Glu3744Ter)
NM_001377.3(DYNC2H1):c.11239G>A (p.Gly3747Arg)
NM_001377.3(DYNC2H1):c.11244G>A (p.Glu3748=)
NM_001377.3(DYNC2H1):c.11256+11A>G
NM_001377.3(DYNC2H1):c.11256+14G>A
NM_001377.3(DYNC2H1):c.11256+19G>A
NM_001377.3(DYNC2H1):c.11256+1G>T
NM_001377.3(DYNC2H1):c.11256+8C>T rs1405925153
NM_001377.3(DYNC2H1):c.11257-11T>C
NM_001377.3(DYNC2H1):c.11257-11dup
NM_001377.3(DYNC2H1):c.11257-17T>C
NM_001377.3(DYNC2H1):c.11257-18G>A
NM_001377.3(DYNC2H1):c.11257-20T>C
NM_001377.3(DYNC2H1):c.11257-4G>A
NM_001377.3(DYNC2H1):c.1125A>G (p.Pro375=)
NM_001377.3(DYNC2H1):c.11262C>A (p.Ala3754=)
NM_001377.3(DYNC2H1):c.11292T>A (p.Ile3764=)
NM_001377.3(DYNC2H1):c.11293C>T (p.Gln3765Ter)
NM_001377.3(DYNC2H1):c.11295A>G (p.Gln3765=)
NM_001377.3(DYNC2H1):c.11301A>G (p.Leu3767=)
NM_001377.3(DYNC2H1):c.11301A>T (p.Leu3767=) rs778574130
NM_001377.3(DYNC2H1):c.11312C>G (p.Ala3771Gly)
NM_001377.3(DYNC2H1):c.11315G>A (p.Arg3772His)
NM_001377.3(DYNC2H1):c.11319T>C (p.Asn3773=)
NM_001377.3(DYNC2H1):c.11325C>T (p.Asp3775=)
NM_001377.3(DYNC2H1):c.11334T>C (p.Cys3778=)
NM_001377.3(DYNC2H1):c.11335T>C (p.Leu3779=)
NM_001377.3(DYNC2H1):c.1134+20A>G
NM_001377.3(DYNC2H1):c.1134+9T>C
NM_001377.3(DYNC2H1):c.11340G>A (p.Lys3780=)
NM_001377.3(DYNC2H1):c.11343C>T (p.Asn3781=)
NM_001377.3(DYNC2H1):c.11348A>C (p.His3783Pro)
NM_001377.3(DYNC2H1):c.1135-12T>A
NM_001377.3(DYNC2H1):c.1135-17G>A rs2134714400
NM_001377.3(DYNC2H1):c.1135-18T>C
NM_001377.3(DYNC2H1):c.1135-5T>C
NM_001377.3(DYNC2H1):c.1135-6A>G
NM_001377.3(DYNC2H1):c.1135-7T>A
NM_001377.3(DYNC2H1):c.1135-8G>A
NM_001377.3(DYNC2H1):c.1135-9T>C
NM_001377.3(DYNC2H1):c.11358A>G (p.Val3786=) rs573193401
NM_001377.3(DYNC2H1):c.11358A>T (p.Val3786=)
NM_001377.3(DYNC2H1):c.11364G>A (p.Trp3788Ter)
NM_001377.3(DYNC2H1):c.11367G>A (p.Leu3789=)
NM_001377.3(DYNC2H1):c.11370A>G (p.Pro3790=)
NM_001377.3(DYNC2H1):c.11370A>T (p.Pro3790=)
NM_001377.3(DYNC2H1):c.1137C>T (p.Pro379=)
NM_001377.3(DYNC2H1):c.11382+17_11382+18insCGG rs10690307
NM_001377.3(DYNC2H1):c.11382+18_11382+19insGGT rs3834451
NM_001377.3(DYNC2H1):c.11382+7_11382+16del rs769400590
NM_001377.3(DYNC2H1):c.11382+8C>G
NM_001377.3(DYNC2H1):c.11382+9A>C
NM_001377.3(DYNC2H1):c.11383-17T>C
NM_001377.3(DYNC2H1):c.11383-18A>G
NM_001377.3(DYNC2H1):c.11383-5A>G rs1867360884
NM_001377.3(DYNC2H1):c.11383-7A>G
NM_001377.3(DYNC2H1):c.11383-9G>A
NM_001377.3(DYNC2H1):c.11394T>A (p.Thr3798=)
NM_001377.3(DYNC2H1):c.11394T>C (p.Thr3798=)
NM_001377.3(DYNC2H1):c.11400A>G (p.Gln3800=)
NM_001377.3(DYNC2H1):c.1140G>A (p.Leu380=)
NM_001377.3(DYNC2H1):c.11411C>G (p.Thr3804Ser) rs779520771
NM_001377.3(DYNC2H1):c.1141_1150del (p.Trp381fs) rs1555038664
NM_001377.3(DYNC2H1):c.11427C>T (p.Leu3809=)
NM_001377.3(DYNC2H1):c.11445C>A (p.Pro3815=)
NM_001377.3(DYNC2H1):c.11445C>T (p.Pro3815=)
NM_001377.3(DYNC2H1):c.11446_11447del (p.Asn3816fs)
NM_001377.3(DYNC2H1):c.11448C>T (p.Asn3816=)
NM_001377.3(DYNC2H1):c.11455C>G (p.Pro3819Ala)
NM_001377.3(DYNC2H1):c.11457T>C (p.Pro3819=)
NM_001377.3(DYNC2H1):c.11490T>C (p.Tyr3830=)
NM_001377.3(DYNC2H1):c.11493+11T>A
NM_001377.3(DYNC2H1):c.11493+14A>C
NM_001377.3(DYNC2H1):c.11493+17C>T
NM_001377.3(DYNC2H1):c.11493+19T>C
NM_001377.3(DYNC2H1):c.11493+20G>A
NM_001377.3(DYNC2H1):c.11493+2T>A rs1555096711
NM_001377.3(DYNC2H1):c.11493+7_11493+9del
NM_001377.3(DYNC2H1):c.11493+8G>T
NM_001377.3(DYNC2H1):c.11493G>A (p.Glu3831=) rs778529441
NM_001377.3(DYNC2H1):c.11494-16T>C
NM_001377.3(DYNC2H1):c.11494-17G>A
NM_001377.3(DYNC2H1):c.11494-18T>C
NM_001377.3(DYNC2H1):c.11494-1G>C
NM_001377.3(DYNC2H1):c.11494-20T>C
NM_001377.3(DYNC2H1):c.11494-4C>G
NM_001377.3(DYNC2H1):c.11494-5dup
NM_001377.3(DYNC2H1):c.11517T>C (p.Asn3839=)
NM_001377.3(DYNC2H1):c.11520A>T (p.Leu3840Phe)
NM_001377.3(DYNC2H1):c.11524C>T (p.Arg3842Cys)
NM_001377.3(DYNC2H1):c.11526T>C (p.Arg3842=)
NM_001377.3(DYNC2H1):c.11532T>C (p.Tyr3844=)
NM_001377.3(DYNC2H1):c.11544T>A (p.Thr3848=)
NM_001377.3(DYNC2H1):c.11551C>A (p.Gln3851Lys)
NM_001377.3(DYNC2H1):c.11562A>G (p.Lys3854=)
NM_001377.3(DYNC2H1):c.11576A>T (p.His3859Leu)
NM_001377.3(DYNC2H1):c.11581G>T (p.Ala3861Ser)
NM_001377.3(DYNC2H1):c.11589T>C (p.Ala3863=)
NM_001377.3(DYNC2H1):c.1158T>G (p.Ser386=)
NM_001377.3(DYNC2H1):c.11597del (p.Ser3866fs) rs1555098222
NM_001377.3(DYNC2H1):c.11598T>C (p.Ser3866=)
NM_001377.3(DYNC2H1):c.11606G>A (p.Trp3869Ter)
NM_001377.3(DYNC2H1):c.11621del (p.Cys3874fs)
NM_001377.3(DYNC2H1):c.11635A>G (p.Asn3879Asp)
NM_001377.3(DYNC2H1):c.11636del (p.Asn3879fs)
NM_001377.3(DYNC2H1):c.11649+11A>G
NM_001377.3(DYNC2H1):c.11649+20G>T
NM_001377.3(DYNC2H1):c.11649+7A>G
NM_001377.3(DYNC2H1):c.11649+8A>G
NM_001377.3(DYNC2H1):c.1164T>C (p.Tyr388=)
NM_001377.3(DYNC2H1):c.11650-10T>G
NM_001377.3(DYNC2H1):c.11650-12G>A
NM_001377.3(DYNC2H1):c.11650-14T>A
NM_001377.3(DYNC2H1):c.11650-14T>C
NM_001377.3(DYNC2H1):c.11650-17_11650-15del
NM_001377.3(DYNC2H1):c.11650-1G>A rs878852996
NM_001377.3(DYNC2H1):c.11650-6T>C
NM_001377.3(DYNC2H1):c.11650-6dup
NM_001377.3(DYNC2H1):c.11659_11660del (p.Lys3887fs)
NM_001377.3(DYNC2H1):c.11661G>A (p.Lys3887=)
NM_001377.3(DYNC2H1):c.11667T>G (p.Tyr3889Ter) rs1937856263
NM_001377.3(DYNC2H1):c.11689C>T (p.Arg3897Trp)
NM_001377.3(DYNC2H1):c.11697dup (p.Tyr3900fs)
NM_001377.3(DYNC2H1):c.11713_11716del (p.Arg3905fs) rs1453448143
NM_001377.3(DYNC2H1):c.11725+13A>G
NM_001377.3(DYNC2H1):c.11725+16_11725+17del rs751817148
NM_001377.3(DYNC2H1):c.11725+8C>A
NM_001377.3(DYNC2H1):c.11726-11del
NM_001377.3(DYNC2H1):c.11726-11dup
NM_001377.3(DYNC2H1):c.11726-17T>G
NM_001377.3(DYNC2H1):c.11726-19T>C
NM_001377.3(DYNC2H1):c.11726-1G>A
NM_001377.3(DYNC2H1):c.11726-20G>T
NM_001377.3(DYNC2H1):c.11726-2A>G
NM_001377.3(DYNC2H1):c.11728G>T (p.Ala3910Ser)
NM_001377.3(DYNC2H1):c.11730C>T (p.Ala3910=)
NM_001377.3(DYNC2H1):c.11731A>G (p.Lys3911Glu) rs2135437450
NM_001377.3(DYNC2H1):c.1173T>C (p.Ile391=)
NM_001377.3(DYNC2H1):c.11751T>C (p.Phe3917=)
NM_001377.3(DYNC2H1):c.11762T>A (p.Leu3921Ter)
NM_001377.3(DYNC2H1):c.11772T>C (p.Asn3924=)
NM_001377.3(DYNC2H1):c.11775T>C (p.Ala3925=)
NM_001377.3(DYNC2H1):c.11784A>T (p.Gly3928=)
NM_001377.3(DYNC2H1):c.11786G>T (p.Gly3929Val)
NM_001377.3(DYNC2H1):c.11789G>A (p.Arg3930His)
NM_001377.3(DYNC2H1):c.11790T>C (p.Arg3930=)
NM_001377.3(DYNC2H1):c.11796C>T (p.Asp3932=)
NM_001377.3(DYNC2H1):c.1179A>G (p.Ala393=)
NM_001377.3(DYNC2H1):c.11808C>T (p.Asp3936=)
NM_001377.3(DYNC2H1):c.11826A>G (p.Ser3942=)
NM_001377.3(DYNC2H1):c.11835G>A (p.Lys3945=)
NM_001377.3(DYNC2H1):c.11853A>C (p.Ser3951=)
NM_001377.3(DYNC2H1):c.1185G>A (p.Ala395=)
NM_001377.3(DYNC2H1):c.11865A>G (p.Val3955=)
NM_001377.3(DYNC2H1):c.11895dup (p.Pro3966fs)
NM_001377.3(DYNC2H1):c.11903C>G (p.Ser3968Cys) rs1335936507
NM_001377.3(DYNC2H1):c.11907A>C (p.Val3969=) rs761013012
NM_001377.3(DYNC2H1):c.11907A>T (p.Val3969=)
NM_001377.3(DYNC2H1):c.11913A>G (p.Leu3971=)
NM_001377.3(DYNC2H1):c.11915del (p.Pro3972fs) rs2135437962
NM_001377.3(DYNC2H1):c.11934+18T>A
NM_001377.3(DYNC2H1):c.11934+1G>A
NM_001377.3(DYNC2H1):c.11935-12C>G
NM_001377.3(DYNC2H1):c.11935-12_11935-10del rs572104795
NM_001377.3(DYNC2H1):c.11935-17dup
NM_001377.3(DYNC2H1):c.11935-8A>G
NM_001377.3(DYNC2H1):c.11943T>C (p.Arg3981=)
NM_001377.3(DYNC2H1):c.1194A>T (p.Lys398Asn) rs2134714754
NM_001377.3(DYNC2H1):c.11955G>A (p.Glu3985=) rs2135444475
NM_001377.3(DYNC2H1):c.11959A>G (p.Ile3987Val) rs558493613
NM_001377.3(DYNC2H1):c.1195dup (p.Ile399fs)
NM_001377.3(DYNC2H1):c.11964A>G (p.Pro3988=) rs1591578553
NM_001377.3(DYNC2H1):c.1197A>G (p.Ile399Met)
NM_001377.3(DYNC2H1):c.11982T>C (p.Ser3994=)
NM_001377.3(DYNC2H1):c.12012C>T (p.Arg4004=)
NM_001377.3(DYNC2H1):c.12018T>G (p.Ser4006=)
NM_001377.3(DYNC2H1):c.12023G>A (p.Arg4008His)
NM_001377.3(DYNC2H1):c.12030C>A (p.Ile4010=)
NM_001377.3(DYNC2H1):c.12030C>T (p.Ile4010=)
NM_001377.3(DYNC2H1):c.12039+13A>G
NM_001377.3(DYNC2H1):c.12039+14A>C
NM_001377.3(DYNC2H1):c.12039+14_12039+15dup
NM_001377.3(DYNC2H1):c.12039+15del
NM_001377.3(DYNC2H1):c.12039+15dup
NM_001377.3(DYNC2H1):c.12039+16G>T
NM_001377.3(DYNC2H1):c.12039+19C>A
NM_001377.3(DYNC2H1):c.12039+19C>G
NM_001377.3(DYNC2H1):c.12039+8A>G
NM_001377.3(DYNC2H1):c.12039+8A>T
NM_001377.3(DYNC2H1):c.12040-14_12040-12del
NM_001377.3(DYNC2H1):c.12040-14del
NM_001377.3(DYNC2H1):c.12040-15T>C
NM_001377.3(DYNC2H1):c.12040-16T>C
NM_001377.3(DYNC2H1):c.12040-20C>T
NM_001377.3(DYNC2H1):c.12040-4T>G
NM_001377.3(DYNC2H1):c.12040-7T>C
NM_001377.3(DYNC2H1):c.12051G>A (p.Gln4017=)
NM_001377.3(DYNC2H1):c.12063G>A (p.Leu4021=) rs2135525774
NM_001377.3(DYNC2H1):c.12066C>T (p.Gly4022=)
NM_001377.3(DYNC2H1):c.12072C>G (p.Ser4024=)
NM_001377.3(DYNC2H1):c.1207T>C (p.Leu403=)
NM_001377.3(DYNC2H1):c.12109T>G (p.Ser4037Ala)
NM_001377.3(DYNC2H1):c.12129C>A (p.Val4043=)
NM_001377.3(DYNC2H1):c.12131T>C (p.Leu4044Pro) rs1940457627
NM_001377.3(DYNC2H1):c.12153C>T (p.Asn4051=)
NM_001377.3(DYNC2H1):c.12156+14T>A
NM_001377.3(DYNC2H1):c.12156+16T>C
NM_001377.3(DYNC2H1):c.12156+1G>T
NM_001377.3(DYNC2H1):c.12156+7A>G
NM_001377.3(DYNC2H1):c.12157-16G>A
NM_001377.3(DYNC2H1):c.12157-17T>C
NM_001377.3(DYNC2H1):c.12157-18A>G
NM_001377.3(DYNC2H1):c.12157-1G>T
NM_001377.3(DYNC2H1):c.12157-20T>C
NM_001377.3(DYNC2H1):c.12157-2A>G
NM_001377.3(DYNC2H1):c.12157-7_12157-6del
NM_001377.3(DYNC2H1):c.12169del (p.Ile4057fs)
NM_001377.3(DYNC2H1):c.12172_12180del (p.His4058_Lys4060del) rs1591686031
NM_001377.3(DYNC2H1):c.12199C>T (p.Arg4067Ter)
NM_001377.3(DYNC2H1):c.12207A>T (p.Gly4069=)
NM_001377.3(DYNC2H1):c.12213A>G (p.Pro4071=)
NM_001377.3(DYNC2H1):c.12218T>C (p.Leu4073Pro)
NM_001377.3(DYNC2H1):c.1224A>G (p.Ser408=)
NM_001377.3(DYNC2H1):c.12282T>G (p.Leu4094=)
NM_001377.3(DYNC2H1):c.12300C>G (p.Val4100=)
NM_001377.3(DYNC2H1):c.1231C>T (p.Gln411Ter)
NM_001377.3(DYNC2H1):c.12321G>C (p.Leu4107=)
NM_001377.3(DYNC2H1):c.12327A>G (p.Ser4109=)
NM_001377.3(DYNC2H1):c.12330A>G (p.Glu4110=) rs1361992864
NM_001377.3(DYNC2H1):c.12338A>G (p.Lys4113Arg) rs1420095948
NM_001377.3(DYNC2H1):c.12339A>G (p.Lys4113=)
NM_001377.3(DYNC2H1):c.12340T>C (p.Leu4114=)
NM_001377.3(DYNC2H1):c.12348T>C (p.Ser4116=)
NM_001377.3(DYNC2H1):c.12351T>A (p.Ala4117=)
NM_001377.3(DYNC2H1):c.12360C>T (p.Asn4120=)
NM_001377.3(DYNC2H1):c.12366+15dup rs772094595
NM_001377.3(DYNC2H1):c.12366+16C>T
NM_001377.3(DYNC2H1):c.12366+17T>A
NM_001377.3(DYNC2H1):c.12366+19T>C
NM_001377.3(DYNC2H1):c.12366+20A>G
NM_001377.3(DYNC2H1):c.12366+7_12366+8delinsAG rs1555119964
NM_001377.3(DYNC2H1):c.12366+9G>A
NM_001377.3(DYNC2H1):c.12367-15C>G
NM_001377.3(DYNC2H1):c.12367-1G>A
NM_001377.3(DYNC2H1):c.12367-6T>C
NM_001377.3(DYNC2H1):c.12369T>C (p.Cys4123=)
NM_001377.3(DYNC2H1):c.12387C>T (p.Ser4129=)
NM_001377.3(DYNC2H1):c.12393G>A (p.Trp4131Ter)
NM_001377.3(DYNC2H1):c.12409C>T (p.Pro4137Ser)
NM_001377.3(DYNC2H1):c.12410C>T (p.Pro4137Leu)
NM_001377.3(DYNC2H1):c.12415C>T (p.Gln4139Ter)
NM_001377.3(DYNC2H1):c.12417A>G (p.Gln4139=)
NM_001377.3(DYNC2H1):c.12423G>A (p.Leu4141=)
NM_001377.3(DYNC2H1):c.12429T>C (p.Gly4143=)
NM_001377.3(DYNC2H1):c.1242A>C (p.Pro414=)
NM_001377.3(DYNC2H1):c.1242A>G (p.Pro414=)
NM_001377.3(DYNC2H1):c.12434T>C (p.Val4145Ala)
NM_001377.3(DYNC2H1):c.1243C>T (p.Gln415Ter)
NM_001377.3(DYNC2H1):c.12440G>A (p.Arg4147His)
NM_001377.3(DYNC2H1):c.12444C>A (p.Ala4148=)
NM_001377.3(DYNC2H1):c.12456+10A>C
NM_001377.3(DYNC2H1):c.12456+2T>C rs778359687
NM_001377.3(DYNC2H1):c.12457-11C>T
NM_001377.3(DYNC2H1):c.12457-12C>T
NM_001377.3(DYNC2H1):c.12457-14T>C
NM_001377.3(DYNC2H1):c.12457-14T>G
NM_001377.3(DYNC2H1):c.12457-16A>G
NM_001377.3(DYNC2H1):c.12457-18A>C
NM_001377.3(DYNC2H1):c.12457-18A>T
NM_001377.3(DYNC2H1):c.12457-1G>C rs2135805319
NM_001377.3(DYNC2H1):c.12457-4C>G
NM_001377.3(DYNC2H1):c.12457-5del
NM_001377.3(DYNC2H1):c.12457-6C>G
NM_001377.3(DYNC2H1):c.12457-6dup rs750717754
NM_001377.3(DYNC2H1):c.12457-7C>T
NM_001377.3(DYNC2H1):c.1245G>A (p.Gln415=)
NM_001377.3(DYNC2H1):c.12462G>A (p.Trp4154Ter)
NM_001377.3(DYNC2H1):c.12465A>G (p.Val4155=)
NM_001377.3(DYNC2H1):c.12466_12469del (p.Asp4156fs) rs766816050
NM_001377.3(DYNC2H1):c.12470A>G (p.Lys4157Arg)
NM_001377.3(DYNC2H1):c.12474T>C (p.Ala4158=)
NM_001377.3(DYNC2H1):c.12477_12489del (p.Glu4159fs)
NM_001377.3(DYNC2H1):c.1248+10T>C
NM_001377.3(DYNC2H1):c.1248+10T>G
NM_001377.3(DYNC2H1):c.1248+16A>G
NM_001377.3(DYNC2H1):c.1248+7C>G
NM_001377.3(DYNC2H1):c.12480dup (p.Gln4161fs)
NM_001377.3(DYNC2H1):c.12482A>G (p.Gln4161Arg)
NM_001377.3(DYNC2H1):c.12484G>T (p.Ala4162Ser) rs866777192
NM_001377.3(DYNC2H1):c.12485C>T (p.Ala4162Val)
NM_001377.3(DYNC2H1):c.1249-17A>G
NM_001377.3(DYNC2H1):c.1249-4T>C
NM_001377.3(DYNC2H1):c.1249-5A>G
NM_001377.3(DYNC2H1):c.12510A>G (p.Leu4170=)
NM_001377.3(DYNC2H1):c.12512C>A (p.Ser4171Ter)
NM_001377.3(DYNC2H1):c.12525T>C (p.His4175=)
NM_001377.3(DYNC2H1):c.12528A>C (p.Pro4176=)
NM_001377.3(DYNC2H1):c.12528A>G (p.Pro4176=)
NM_001377.3(DYNC2H1):c.12530A>G (p.Asp4177Gly)
NM_001377.3(DYNC2H1):c.12534A>C (p.Thr4178=)
NM_001377.3(DYNC2H1):c.12542del (p.Asn4181fs)
NM_001377.3(DYNC2H1):c.12543T>C (p.Asn4181=)
NM_001377.3(DYNC2H1):c.12556G>A (p.Glu4186Lys) rs764491760
NM_001377.3(DYNC2H1):c.12566+10A>C
NM_001377.3(DYNC2H1):c.12566+14A>C
NM_001377.3(DYNC2H1):c.12566+15A>T
NM_001377.3(DYNC2H1):c.12566+16T>C rs2135805720
NM_001377.3(DYNC2H1):c.12566+2T>C
NM_001377.3(DYNC2H1):c.12567-10_12567-9dup
NM_001377.3(DYNC2H1):c.12567-13T>C
NM_001377.3(DYNC2H1):c.12567-14C>G
NM_001377.3(DYNC2H1):c.12567-15G>A
NM_001377.3(DYNC2H1):c.12567-18G>A
NM_001377.3(DYNC2H1):c.12567-19T>G
NM_001377.3(DYNC2H1):c.12567-1G>A
NM_001377.3(DYNC2H1):c.12567-8_12567-3del
NM_001377.3(DYNC2H1):c.12570A>C (p.Ala4190=) rs138434836
NM_001377.3(DYNC2H1):c.12577C>T (p.Arg4193Cys)
NM_001377.3(DYNC2H1):c.12582T>C (p.Ser4194=)
NM_001377.3(DYNC2H1):c.12588T>C (p.Asp4196=)
NM_001377.3(DYNC2H1):c.12591C>T (p.Ser4197=)
NM_001377.3(DYNC2H1):c.12606C>G (p.Ala4202=)
NM_001377.3(DYNC2H1):c.12606C>T (p.Ala4202=)
NM_001377.3(DYNC2H1):c.12615A>G (p.Lys4205=)
NM_001377.3(DYNC2H1):c.12620G>A (p.Arg4207Gln)
NM_001377.3(DYNC2H1):c.12623T>G (p.Leu4208Arg)
NM_001377.3(DYNC2H1):c.12633A>G (p.Ala4211=)
NM_001377.3(DYNC2H1):c.12645T>C (p.Ile4215=)
NM_001377.3(DYNC2H1):c.12648+16T>C
NM_001377.3(DYNC2H1):c.12648+17A>C
NM_001377.3(DYNC2H1):c.12648+7G>C
NM_001377.3(DYNC2H1):c.12649-16T>C
NM_001377.3(DYNC2H1):c.12649-17A>G
NM_001377.3(DYNC2H1):c.12649-19A>G
NM_001377.3(DYNC2H1):c.12649-19A>T
NM_001377.3(DYNC2H1):c.12649-1G>A rs1333438254
NM_001377.3(DYNC2H1):c.12649-1G>T
NM_001377.3(DYNC2H1):c.12649-4G>C
NM_001377.3(DYNC2H1):c.12649-7A>G
NM_001377.3(DYNC2H1):c.12664C>T (p.Leu4222=)
NM_001377.3(DYNC2H1):c.1266G>A (p.Leu422=)
NM_001377.3(DYNC2H1):c.12684T>C (p.Asp4228=)
NM_001377.3(DYNC2H1):c.12695T>G (p.Leu4232Arg) rs1945272232
NM_001377.3(DYNC2H1):c.12708G>A (p.Gln4236=)
NM_001377.3(DYNC2H1):c.12723C>T (p.Ser4241=)
NM_001377.3(DYNC2H1):c.1272T>C (p.Tyr424=)
NM_001377.3(DYNC2H1):c.12741T>C (p.Pro4247=)
NM_001377.3(DYNC2H1):c.12763C>T (p.Gln4255Ter) rs2135849050
NM_001377.3(DYNC2H1):c.12765+14A>G
NM_001377.3(DYNC2H1):c.12765+18A>G
NM_001377.3(DYNC2H1):c.12765+18del
NM_001377.3(DYNC2H1):c.12765+1_12765+4del
NM_001377.3(DYNC2H1):c.12765+8A>G
NM_001377.3(DYNC2H1):c.12766-10T>C
NM_001377.3(DYNC2H1):c.12766-12T>C
NM_001377.3(DYNC2H1):c.12766-13A>G
NM_001377.3(DYNC2H1):c.12766-16G>C
NM_001377.3(DYNC2H1):c.12766-20A>T
NM_001377.3(DYNC2H1):c.12766-7dup rs747006567
NM_001377.3(DYNC2H1):c.12766G>C (p.Asp4256His) rs772516163
NM_001377.3(DYNC2H1):c.12771A>G (p.Ala4257=)
NM_001377.3(DYNC2H1):c.12789G>A (p.Pro4263=)
NM_001377.3(DYNC2H1):c.1278G>A (p.Glu426=)
NM_001377.3(DYNC2H1):c.12790G>A (p.Asp4264Asn)
NM_001377.3(DYNC2H1):c.12795G>A (p.Glu4265=)
NM_001377.3(DYNC2H1):c.12798C>T (p.Cys4266=)
NM_001377.3(DYNC2H1):c.12806T>C (p.Leu4269Ser) rs1555143920
NM_001377.3(DYNC2H1):c.12810T>C (p.Pro4270=)
NM_001377.3(DYNC2H1):c.12831G>A (p.Arg4277=)
NM_001377.3(DYNC2H1):c.12836G>A (p.Arg4279His)
NM_001377.3(DYNC2H1):c.1284A>G (p.Val428=)
NM_001377.3(DYNC2H1):c.12858T>C (p.Val4286=)
NM_001377.3(DYNC2H1):c.12861A>G (p.Pro4287=)
NM_001377.3(DYNC2H1):c.12879C>T (p.Asp4293=)
NM_001377.3(DYNC2H1):c.12882G>A (p.Gln4294=)
NM_001377.3(DYNC2H1):c.12888T>C (p.Ile4296=)
NM_001377.3(DYNC2H1):c.12900A>G (p.Ala4300=)
NM_001377.3(DYNC2H1):c.12912A>C (p.Leu4304=)
NM_001377.3(DYNC2H1):c.12912A>G (p.Leu4304=)
NM_001377.3(DYNC2H1):c.12916A>G (p.Asn4306Asp) rs200264343
NM_001377.3(DYNC2H1):c.12918T>C (p.Asn4306=)
NM_001377.3(DYNC2H1):c.1296T>G (p.Thr432=)
NM_001377.3(DYNC2H1):c.1322G>A (p.Arg441Lys) rs2134715900
NM_001377.3(DYNC2H1):c.132T>C (p.Asp44=)
NM_001377.3(DYNC2H1):c.1334T>C (p.Leu445Pro) rs2134715945
NM_001377.3(DYNC2H1):c.1338A>C (p.Ala446=)
NM_001377.3(DYNC2H1):c.1338A>G (p.Ala446=)
NM_001377.3(DYNC2H1):c.1353A>G (p.Ser451=)
NM_001377.3(DYNC2H1):c.1353A>T (p.Ser451=)
NM_001377.3(DYNC2H1):c.1355_1358del (p.Ile452fs) rs1223907858
NM_001377.3(DYNC2H1):c.1360+17T>C
NM_001377.3(DYNC2H1):c.1360+2T>G
NM_001377.3(DYNC2H1):c.1360+6dup rs2134716056
NM_001377.3(DYNC2H1):c.1360+9T>G
NM_001377.3(DYNC2H1):c.1361-11A>C
NM_001377.3(DYNC2H1):c.1361-14T>C
NM_001377.3(DYNC2H1):c.1361-15A>G
NM_001377.3(DYNC2H1):c.1361-16G>A
NM_001377.3(DYNC2H1):c.1361-20A>G
NM_001377.3(DYNC2H1):c.1361-20A>T
NM_001377.3(DYNC2H1):c.1361-4A>G
NM_001377.3(DYNC2H1):c.1362T>C (p.Asp454=)
NM_001377.3(DYNC2H1):c.1366C>T (p.Arg456Ter)
NM_001377.3(DYNC2H1):c.1371A>G (p.Leu457=)
NM_001377.3(DYNC2H1):c.1389C>T (p.Cys463=)
NM_001377.3(DYNC2H1):c.138C>T (p.Gly46=)
NM_001377.3(DYNC2H1):c.1397T>A (p.Ile466Asn)
NM_001377.3(DYNC2H1):c.1398T>A (p.Ile466=)
NM_001377.3(DYNC2H1):c.1399C>T (p.Pro467Ser) rs1858702281
NM_001377.3(DYNC2H1):c.1408_1418del (p.Ala470fs)
NM_001377.3(DYNC2H1):c.1419A>T (p.Pro473=)
NM_001377.3(DYNC2H1):c.1425T>C (p.Ser475=)
NM_001377.3(DYNC2H1):c.1434T>C (p.Asn478=)
NM_001377.3(DYNC2H1):c.1440A>G (p.Ser480=)
NM_001377.3(DYNC2H1):c.1454G>T (p.Ser485Ile) rs779488462
NM_001377.3(DYNC2H1):c.1455T>C (p.Ser485=)
NM_001377.3(DYNC2H1):c.1459G>A (p.Val487Ile)
NM_001377.3(DYNC2H1):c.145A>T (p.Met49Leu)
NM_001377.3(DYNC2H1):c.1461T>C (p.Val487=)
NM_001377.3(DYNC2H1):c.1485+20A>T
NM_001377.3(DYNC2H1):c.1485+4T>C rs2134718326
NM_001377.3(DYNC2H1):c.1485+7A>G
NM_001377.3(DYNC2H1):c.1486-16A>G
NM_001377.3(DYNC2H1):c.1486-17del rs2134723666
NM_001377.3(DYNC2H1):c.1486-18G>A
NM_001377.3(DYNC2H1):c.1486-20C>G rs191631635
NM_001377.3(DYNC2H1):c.1486-20C>T
NM_001377.3(DYNC2H1):c.1489G>A (p.Asp497Asn)
NM_001377.3(DYNC2H1):c.1504A>G (p.Ile502Val)
NM_001377.3(DYNC2H1):c.150C>T (p.Leu50=)
NM_001377.3(DYNC2H1):c.1533A>G (p.Pro511=)
NM_001377.3(DYNC2H1):c.1536A>G (p.Gly512=) rs1591273398
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399
NM_001377.3(DYNC2H1):c.1545T>C (p.Cys515=)
NM_001377.3(DYNC2H1):c.1569C>T (p.Leu523=)
NM_001377.3(DYNC2H1):c.15T>C (p.Thr5=)
NM_001377.3(DYNC2H1):c.1611T>C (p.Asp537=)
NM_001377.3(DYNC2H1):c.1614G>A (p.Trp538Ter)
NM_001377.3(DYNC2H1):c.1614G>C (p.Trp538Cys)
NM_001377.3(DYNC2H1):c.1631C>T (p.Ser544Leu) rs1858796228
NM_001377.3(DYNC2H1):c.1647C>T (p.Ser549=)
NM_001377.3(DYNC2H1):c.1649G>C (p.Arg550Thr)
NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs) rs748906528
NM_001377.3(DYNC2H1):c.1661+11A>G
NM_001377.3(DYNC2H1):c.1661+1G>C
NM_001377.3(DYNC2H1):c.1662-18A>G
NM_001377.3(DYNC2H1):c.1662-2A>G
NM_001377.3(DYNC2H1):c.1662-4A>G
NM_001377.3(DYNC2H1):c.1664T>G (p.Ile555Ser) rs1858922505
NM_001377.3(DYNC2H1):c.1678C>T (p.Arg560Ter)
NM_001377.3(DYNC2H1):c.1679G>A (p.Arg560Gln) rs561232842
NM_001377.3(DYNC2H1):c.1679G>T (p.Arg560Leu) rs561232842
NM_001377.3(DYNC2H1):c.1681A>G (p.Ile561Val)
NM_001377.3(DYNC2H1):c.1704T>C (p.Asp568=) rs1456043930
NM_001377.3(DYNC2H1):c.1705G>C (p.Gly569Arg)
NM_001377.3(DYNC2H1):c.1707A>G (p.Gly569=)
NM_001377.3(DYNC2H1):c.1716A>G (p.Lys572=)
NM_001377.3(DYNC2H1):c.172G>C (p.Ala58Pro)
NM_001377.3(DYNC2H1):c.1734T>C (p.Arg578=)
NM_001377.3(DYNC2H1):c.173C>G (p.Ala58Gly)
NM_001377.3(DYNC2H1):c.1747C>T (p.Leu583=)
NM_001377.3(DYNC2H1):c.1755A>G (p.Glu585=)
NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly) rs864622357
NM_001377.3(DYNC2H1):c.1760G>A (p.Arg587His)
NM_001377.3(DYNC2H1):c.1767C>G (p.Leu589=)
NM_001377.3(DYNC2H1):c.1769C>T (p.Ser590Phe) rs1269262525
NM_001377.3(DYNC2H1):c.1770T>C (p.Ser590=)
NM_001377.3(DYNC2H1):c.1815C>T (p.Asn605=)
NM_001377.3(DYNC2H1):c.1827A>G (p.Lys609=)
NM_001377.3(DYNC2H1):c.183C>G (p.Ser61=) rs1591248391
NM_001377.3(DYNC2H1):c.1844T>C (p.Ile615Thr) rs2134734586
NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter) rs1260978141
NM_001377.3(DYNC2H1):c.1857+13A>C
NM_001377.3(DYNC2H1):c.1857+13A>G
NM_001377.3(DYNC2H1):c.1857+14T>C
NM_001377.3(DYNC2H1):c.1857+14T>G
NM_001377.3(DYNC2H1):c.1857+19dup
NM_001377.3(DYNC2H1):c.1857+20G>T
NM_001377.3(DYNC2H1):c.1858-14C>G
NM_001377.3(DYNC2H1):c.1858-4G>A
NM_001377.3(DYNC2H1):c.1864del (p.His622fs)
NM_001377.3(DYNC2H1):c.1868T>C (p.Phe623Ser) rs2134749282
NM_001377.3(DYNC2H1):c.1879A>G (p.Ile627Val)
NM_001377.3(DYNC2H1):c.1903C>T (p.Gln635Ter)
NM_001377.3(DYNC2H1):c.1918T>C (p.Leu640=)
NM_001377.3(DYNC2H1):c.1920A>G (p.Leu640=)
NM_001377.3(DYNC2H1):c.192C>G (p.Asn64Lys)
NM_001377.3(DYNC2H1):c.1935A>G (p.Ala645=)
NM_001377.3(DYNC2H1):c.195+12T>A
NM_001377.3(DYNC2H1):c.195+14C>T
NM_001377.3(DYNC2H1):c.195+16C>T
NM_001377.3(DYNC2H1):c.195+19C>T
NM_001377.3(DYNC2H1):c.195+1G>A
NM_001377.3(DYNC2H1):c.195+5G>A rs774148120
NM_001377.3(DYNC2H1):c.195+7T>G
NM_001377.3(DYNC2H1):c.1953+16A>G
NM_001377.3(DYNC2H1):c.1953+7G>T
NM_001377.3(DYNC2H1):c.1953+8G>A
NM_001377.3(DYNC2H1):c.1953+9G>A
NM_001377.3(DYNC2H1):c.1953+9G>T
NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=) rs1178331074
NM_001377.3(DYNC2H1):c.1954-17T>C
NM_001377.3(DYNC2H1):c.1954-19G>T
NM_001377.3(DYNC2H1):c.1954-20G>A
NM_001377.3(DYNC2H1):c.196-13T>C rs765533229
NM_001377.3(DYNC2H1):c.196-17A>G
NM_001377.3(DYNC2H1):c.196-5T>C
NM_001377.3(DYNC2H1):c.196-7A>C
NM_001377.3(DYNC2H1):c.196-9T>C
NM_001377.3(DYNC2H1):c.1966G>T (p.Gly656Ter)
NM_001377.3(DYNC2H1):c.1A>G (p.Met1Val)
NM_001377.3(DYNC2H1):c.2008G>T (p.Glu670Ter) rs750682546
NM_001377.3(DYNC2H1):c.2010A>G (p.Glu670=)
NM_001377.3(DYNC2H1):c.2022T>C (p.Tyr674=)
NM_001377.3(DYNC2H1):c.2040T>C (p.Asn680=)
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.2043T>C (p.Ala681=)
NM_001377.3(DYNC2H1):c.2050C>T (p.Arg684Trp)
NM_001377.3(DYNC2H1):c.2064A>G (p.Glu688=)
NM_001377.3(DYNC2H1):c.2074C>T (p.Leu692=)
NM_001377.3(DYNC2H1):c.2077A>T (p.Arg693Ter)
NM_001377.3(DYNC2H1):c.2088C>T (p.His696=)
NM_001377.3(DYNC2H1):c.2089del (p.Thr697fs)
NM_001377.3(DYNC2H1):c.2094A>C (p.Thr698=)
NM_001377.3(DYNC2H1):c.2106+14A>T
NM_001377.3(DYNC2H1):c.2106+5A>G rs886047560
NM_001377.3(DYNC2H1):c.2107-14C>T
NM_001377.3(DYNC2H1):c.2107-16C>T
NM_001377.3(DYNC2H1):c.2107-17G>A
NM_001377.3(DYNC2H1):c.2107-19A>G
NM_001377.3(DYNC2H1):c.2107-4A>T
NM_001377.3(DYNC2H1):c.2107G>T (p.Val703Leu)
NM_001377.3(DYNC2H1):c.2136T>C (p.Leu712=)
NM_001377.3(DYNC2H1):c.2140C>T (p.Gln714Ter) rs2134773913
NM_001377.3(DYNC2H1):c.2149C>A (p.Arg717Ser) rs576204512
NM_001377.3(DYNC2H1):c.2150G>A (p.Arg717His)
NM_001377.3(DYNC2H1):c.2163A>G (p.Gly721=)
NM_001377.3(DYNC2H1):c.216A>C (p.Lys72Asn)
NM_001377.3(DYNC2H1):c.2173T>C (p.Leu725=)
NM_001377.3(DYNC2H1):c.2178A>G (p.Arg726=)
NM_001377.3(DYNC2H1):c.2187A>G (p.Leu729=)
NM_001377.3(DYNC2H1):c.2196A>G (p.Val732=)
NM_001377.3(DYNC2H1):c.219T>C (p.Asp73=)
NM_001377.3(DYNC2H1):c.2203C>T (p.Gln735Ter)
NM_001377.3(DYNC2H1):c.2205+10G>A
NM_001377.3(DYNC2H1):c.2205+11T>C
NM_001377.3(DYNC2H1):c.2205+7T>C
NM_001377.3(DYNC2H1):c.2206-16G>C
NM_001377.3(DYNC2H1):c.2206-18G>A
NM_001377.3(DYNC2H1):c.2206-19T>C
NM_001377.3(DYNC2H1):c.2206-4T>G
NM_001377.3(DYNC2H1):c.2217A>G (p.Ala739=)
NM_001377.3(DYNC2H1):c.2225T>G (p.Met742Arg) rs774610143
NM_001377.3(DYNC2H1):c.2232A>G (p.Ala744=)
NM_001377.3(DYNC2H1):c.2232A>T (p.Ala744=)
NM_001377.3(DYNC2H1):c.2247G>A (p.Trp749Ter)
NM_001377.3(DYNC2H1):c.2259G>A (p.Leu753=)
NM_001377.3(DYNC2H1):c.2269C>T (p.Leu757=)
NM_001377.3(DYNC2H1):c.2274G>A (p.Glu758=) rs1373793996
NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp) rs1555043520
NM_001377.3(DYNC2H1):c.2345+12T>A rs2134780034
NM_001377.3(DYNC2H1):c.2345+17A>G
NM_001377.3(DYNC2H1):c.2345+18C>T
NM_001377.3(DYNC2H1):c.2345+9T>A
NM_001377.3(DYNC2H1):c.2346-19G>A
NM_001377.3(DYNC2H1):c.2346-1G>A
NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter) rs755883373
NM_001377.3(DYNC2H1):c.2355A>G (p.Arg785=)
NM_001377.3(DYNC2H1):c.2361A>G (p.Gln787=)
NM_001377.3(DYNC2H1):c.2367G>A (p.Arg789=)
NM_001377.3(DYNC2H1):c.2370C>T (p.Pro790=)
NM_001377.3(DYNC2H1):c.2385C>A (p.Ile795=)
NM_001377.3(DYNC2H1):c.2386del (p.Arg796fs) rs765454943
NM_001377.3(DYNC2H1):c.2403A>G (p.Arg801=)
NM_001377.3(DYNC2H1):c.2420T>C (p.Ile807Thr)
NM_001377.3(DYNC2H1):c.2423G>A (p.Gly808Asp)
NM_001377.3(DYNC2H1):c.2436G>A (p.Gln812=)
NM_001377.3(DYNC2H1):c.2442G>A (p.Lys814=)
NM_001377.3(DYNC2H1):c.2466A>G (p.Glu822=)
NM_001377.3(DYNC2H1):c.2502T>C (p.Ser834=)
NM_001377.3(DYNC2H1):c.2509T>C (p.Leu837=)
NM_001377.3(DYNC2H1):c.2512A>G (p.Thr838Ala)
NM_001377.3(DYNC2H1):c.2520C>T (p.Phe840=)
NM_001377.3(DYNC2H1):c.2527G>A (p.Ala843Thr) rs548461924
NM_001377.3(DYNC2H1):c.2533G>C (p.Asp845His) rs879676957
NM_001377.3(DYNC2H1):c.2548T>C (p.Leu850=)
NM_001377.3(DYNC2H1):c.2549T>A (p.Leu850Ter)
NM_001377.3(DYNC2H1):c.2558T>C (p.Val853Ala) rs1859514020
NM_001377.3(DYNC2H1):c.255A>G (p.Val85=)
NM_001377.3(DYNC2H1):c.2564A>C (p.His855Pro) rs762644833
NM_001377.3(DYNC2H1):c.2564A>G (p.His855Arg) rs762644833
NM_001377.3(DYNC2H1):c.2568A>G (p.Gln856=)
NM_001377.3(DYNC2H1):c.2570A>G (p.His857Arg)
NM_001377.3(DYNC2H1):c.2574+17G>A
NM_001377.3(DYNC2H1):c.2574+1G>A rs1565329461
NM_001377.3(DYNC2H1):c.2574+7A>G
NM_001377.3(DYNC2H1):c.2575-11T>C
NM_001377.3(DYNC2H1):c.2575-14C>A
NM_001377.3(DYNC2H1):c.2575-18T>G
NM_001377.3(DYNC2H1):c.2575-6A>T rs1357755464
NM_001377.3(DYNC2H1):c.2577A>G (p.Glu859=)
NM_001377.3(DYNC2H1):c.2583T>C (p.Ile861=)
NM_001377.3(DYNC2H1):c.2589T>C (p.Ile863=)
NM_001377.3(DYNC2H1):c.2592G>A (p.Gly864=)
NM_001377.3(DYNC2H1):c.2600_2602del (p.Asp867_Met868delinsVal) rs2134829810
NM_001377.3(DYNC2H1):c.2612T>C (p.Leu871Pro)
NM_001377.3(DYNC2H1):c.2616G>A (p.Val872=)
NM_001377.3(DYNC2H1):c.2622G>A (p.Lys874=)
NM_001377.3(DYNC2H1):c.2624A>G (p.His875Arg)
NM_001377.3(DYNC2H1):c.2635G>A (p.Val879Ile)
NM_001377.3(DYNC2H1):c.2635G>C (p.Val879Leu)
NM_001377.3(DYNC2H1):c.2636T>C (p.Val879Ala)
NM_001377.3(DYNC2H1):c.2640T>G (p.His880Gln)
NM_001377.3(DYNC2H1):c.2641G>T (p.Asp881Tyr)
NM_001377.3(DYNC2H1):c.2647G>A (p.Glu883Lys)
NM_001377.3(DYNC2H1):c.2652A>G (p.Lys884=)
NM_001377.3(DYNC2H1):c.2664A>C (p.Ala888=)
NM_001377.3(DYNC2H1):c.2664A>G (p.Ala888=)
NM_001377.3(DYNC2H1):c.266A>G (p.Glu89Gly) rs886047558
NM_001377.3(DYNC2H1):c.2686G>T (p.Val896Leu)
NM_001377.3(DYNC2H1):c.2692C>T (p.Arg898Ter)
NM_001377.3(DYNC2H1):c.2693G>A (p.Arg898Gln)
NM_001377.3(DYNC2H1):c.269A>G (p.Asn90Ser)
NM_001377.3(DYNC2H1):c.2702+12T>C
NM_001377.3(DYNC2H1):c.2702+15T>C
NM_001377.3(DYNC2H1):c.2702+16_2702+23del
NM_001377.3(DYNC2H1):c.2702+17T>A
NM_001377.3(DYNC2H1):c.2702+1G>A rs864622358
NM_001377.3(DYNC2H1):c.2702+8A>C
NM_001377.3(DYNC2H1):c.2703-15A>G
NM_001377.3(DYNC2H1):c.2703-18T>C
NM_001377.3(DYNC2H1):c.2703-20T>C
NM_001377.3(DYNC2H1):c.2703-2A>G
NM_001377.3(DYNC2H1):c.2703-9A>G
NM_001377.3(DYNC2H1):c.270T>C (p.Asn90=)
NM_001377.3(DYNC2H1):c.2712G>A (p.Lys904=) rs2134851598
NM_001377.3(DYNC2H1):c.2718T>C (p.Asp906=)
NM_001377.3(DYNC2H1):c.2721T>C (p.Cys907=)
NM_001377.3(DYNC2H1):c.2730T>C (p.Ile910=)
NM_001377.3(DYNC2H1):c.2736C>A (p.Cys912Ter)
NM_001377.3(DYNC2H1):c.2739C>T (p.Asn913=)
NM_001377.3(DYNC2H1):c.2741C>G (p.Pro914Arg)
NM_001377.3(DYNC2H1):c.2745G>C (p.Val915=)
NM_001377.3(DYNC2H1):c.2748G>A (p.Lys916=)
NM_001377.3(DYNC2H1):c.2770C>T (p.Gln924Ter)
NM_001377.3(DYNC2H1):c.2778A>G (p.Leu926=)
NM_001377.3(DYNC2H1):c.2780T>C (p.Phe927Ser)
NM_001377.3(DYNC2H1):c.2807A>G (p.Lys936Arg)
NM_001377.3(DYNC2H1):c.2811C>A (p.Ser937=)
NM_001377.3(DYNC2H1):c.2818+10C>A
NM_001377.3(DYNC2H1):c.2818+10C>T
NM_001377.3(DYNC2H1):c.2818+11A>G
NM_001377.3(DYNC2H1):c.2818+17A>G
NM_001377.3(DYNC2H1):c.2818+1G>C rs1591316134
NM_001377.3(DYNC2H1):c.2818+7A>C
NM_001377.3(DYNC2H1):c.2818+8C>G
NM_001377.3(DYNC2H1):c.2819-10T>C
NM_001377.3(DYNC2H1):c.2819-14A>T
NM_001377.3(DYNC2H1):c.2819-20A>G
NM_001377.3(DYNC2H1):c.2819-8C>T
NM_001377.3(DYNC2H1):c.2820T>A (p.Ala940=)
NM_001377.3(DYNC2H1):c.2820T>C (p.Ala940=)
NM_001377.3(DYNC2H1):c.2841A>G (p.Thr947=)
NM_001377.3(DYNC2H1):c.2886T>C (p.Ser962=)
NM_001377.3(DYNC2H1):c.2913A>G (p.Leu971=)
NM_001377.3(DYNC2H1):c.2919T>C (p.Tyr973=)
NM_001377.3(DYNC2H1):c.2939A>G (p.Lys980Arg)
NM_001377.3(DYNC2H1):c.2940G>A (p.Lys980=)
NM_001377.3(DYNC2H1):c.2946+10A>G
NM_001377.3(DYNC2H1):c.2946+15G>C rs2134855865
NM_001377.3(DYNC2H1):c.2946+1G>C
NM_001377.3(DYNC2H1):c.2946+7A>C
NM_001377.3(DYNC2H1):c.2947-11T>C
NM_001377.3(DYNC2H1):c.2947-12_2947-11insC
NM_001377.3(DYNC2H1):c.2947-15T>C
NM_001377.3(DYNC2H1):c.2947-15_2947-14insGT
NM_001377.3(DYNC2H1):c.2947-16_2947-15insCT
NM_001377.3(DYNC2H1):c.2947-18_2947-17insG
NM_001377.3(DYNC2H1):c.2947-18_2947-17insGT rs750641672
NM_001377.3(DYNC2H1):c.2947-19_2947-18insGT
NM_001377.3(DYNC2H1):c.2947-2_2949del
NM_001377.3(DYNC2H1):c.2947-6C>T
NM_001377.3(DYNC2H1):c.2947-9A>T
NM_001377.3(DYNC2H1):c.2955C>T (p.Pro985=)
NM_001377.3(DYNC2H1):c.2981del (p.Asn994fs)
NM_001377.3(DYNC2H1):c.2985A>G (p.Arg995=)
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.3009A>G (p.Gly1003=)
NM_001377.3(DYNC2H1):c.3024T>A (p.Ile1008=)
NM_001377.3(DYNC2H1):c.3024T>C (p.Ile1008=)
NM_001377.3(DYNC2H1):c.3036A>G (p.Lys1012=)
NM_001377.3(DYNC2H1):c.3042G>A (p.Lys1014=)
NM_001377.3(DYNC2H1):c.3051A>G (p.Lys1017=) rs1249528182
NM_001377.3(DYNC2H1):c.3075C>T (p.His1025=)
NM_001377.3(DYNC2H1):c.3085A>G (p.Ile1029Val)
NM_001377.3(DYNC2H1):c.3093C>T (p.Asp1031=)
NM_001377.3(DYNC2H1):c.3095del (p.Gln1032fs) rs1555049536
NM_001377.3(DYNC2H1):c.3096+11T>C
NM_001377.3(DYNC2H1):c.3096+16T>C
NM_001377.3(DYNC2H1):c.3096+7A>G
NM_001377.3(DYNC2H1):c.3096+8T>A
NM_001377.3(DYNC2H1):c.3097-13T>C
NM_001377.3(DYNC2H1):c.3097-14T>C
NM_001377.3(DYNC2H1):c.3097-18A>T
NM_001377.3(DYNC2H1):c.3097-7C>A
NM_001377.3(DYNC2H1):c.3097-9G>C
NM_001377.3(DYNC2H1):c.3114A>G (p.Gly1038=)
NM_001377.3(DYNC2H1):c.3117T>C (p.Asn1039=)
NM_001377.3(DYNC2H1):c.3123A>G (p.Lys1041=)
NM_001377.3(DYNC2H1):c.3126A>G (p.Ser1042=)
NM_001377.3(DYNC2H1):c.3127C>T (p.Arg1043Cys)
NM_001377.3(DYNC2H1):c.3144T>C (p.Tyr1048=)
NM_001377.3(DYNC2H1):c.3145C>T (p.Gln1049Ter)
NM_001377.3(DYNC2H1):c.3159del (p.Lys1053fs)
NM_001377.3(DYNC2H1):c.315T>A (p.Ile105=)
NM_001377.3(DYNC2H1):c.3165A>G (p.Lys1055=)
NM_001377.3(DYNC2H1):c.3169C>T (p.Arg1057Cys)
NM_001377.3(DYNC2H1):c.3180A>G (p.Gln1060=)
NM_001377.3(DYNC2H1):c.3192T>G (p.Gly1064=)
NM_001377.3(DYNC2H1):c.3195T>C (p.Asp1065=)
NM_001377.3(DYNC2H1):c.3213C>T (p.Gly1071=)
NM_001377.3(DYNC2H1):c.3225T>C (p.Thr1075=)
NM_001377.3(DYNC2H1):c.3240A>G (p.Ala1080=)
NM_001377.3(DYNC2H1):c.324T>G (p.Leu108=)
NM_001377.3(DYNC2H1):c.3258A>G (p.Lys1086=)
NM_001377.3(DYNC2H1):c.3262dup (p.Ile1088fs) rs767206815
NM_001377.3(DYNC2H1):c.3276T>C (p.Asp1092=)
NM_001377.3(DYNC2H1):c.3300G>T (p.Leu1100=)
NM_001377.3(DYNC2H1):c.3302+1G>T
NM_001377.3(DYNC2H1):c.3302+20T>C
NM_001377.3(DYNC2H1):c.3302+7T>G
NM_001377.3(DYNC2H1):c.3302+8T>C
NM_001377.3(DYNC2H1):c.3303-12T>G
NM_001377.3(DYNC2H1):c.3303-17A>C
NM_001377.3(DYNC2H1):c.3303-244_3303-16del
NM_001377.3(DYNC2H1):c.3303-4A>C
NM_001377.3(DYNC2H1):c.3303-4A>G
NM_001377.3(DYNC2H1):c.3303-5T>C
NM_001377.3(DYNC2H1):c.3315T>C (p.His1105=)
NM_001377.3(DYNC2H1):c.3321T>C (p.Phe1107=) rs1182325179
NM_001377.3(DYNC2H1):c.3360C>T (p.Ile1120=)
NM_001377.3(DYNC2H1):c.336A>G (p.Val112=)
NM_001377.3(DYNC2H1):c.3384C>T (p.Ala1128=)
NM_001377.3(DYNC2H1):c.3387A>G (p.Gln1129=)
NM_001377.3(DYNC2H1):c.3396C>A (p.Ala1132=)
NM_001377.3(DYNC2H1):c.3402T>C (p.Tyr1134=) rs539131390
NM_001377.3(DYNC2H1):c.3408G>A (p.Glu1136=)
NM_001377.3(DYNC2H1):c.3414A>G (p.Gln1138=)
NM_001377.3(DYNC2H1):c.342A>G (p.Gln114=)
NM_001377.3(DYNC2H1):c.3440A>G (p.Glu1147Gly)
NM_001377.3(DYNC2H1):c.3443_3446dup (p.Trp1149Ter)
NM_001377.3(DYNC2H1):c.3450C>T (p.Ile1150=)
NM_001377.3(DYNC2H1):c.3454T>G (p.Phe1152Val) rs1054675967
NM_001377.3(DYNC2H1):c.3457C>T (p.Arg1153Trp)
NM_001377.3(DYNC2H1):c.3458+11A>C
NM_001377.3(DYNC2H1):c.3458+11A>G
NM_001377.3(DYNC2H1):c.3458+17A>G
NM_001377.3(DYNC2H1):c.3458+1G>A
NM_001377.3(DYNC2H1):c.3459-11G>A
NM_001377.3(DYNC2H1):c.3459-12G>T
NM_001377.3(DYNC2H1):c.3459-13T>C
NM_001377.3(DYNC2H1):c.3459-17T>A
NM_001377.3(DYNC2H1):c.3459-18G>A
NM_001377.3(DYNC2H1):c.3459-19T>G
NM_001377.3(DYNC2H1):c.3474G>C (p.Leu1158=)
NM_001377.3(DYNC2H1):c.347T>C (p.Phe116Ser) rs1020246530
NM_001377.3(DYNC2H1):c.3486T>C (p.Phe1162=)
NM_001377.3(DYNC2H1):c.3487T>C (p.Leu1163=)
NM_001377.3(DYNC2H1):c.3498G>A (p.Trp1166Ter)
NM_001377.3(DYNC2H1):c.3509T>G (p.Leu1170Ter)
NM_001377.3(DYNC2H1):c.3516G>A (p.Lys1172=)
NM_001377.3(DYNC2H1):c.3523del (p.Glu1175fs)
NM_001377.3(DYNC2H1):c.3525A>G (p.Glu1175=)
NM_001377.3(DYNC2H1):c.3546A>G (p.Lys1182=)
NM_001377.3(DYNC2H1):c.3549A>G (p.Leu1183=)
NM_001377.3(DYNC2H1):c.354A>G (p.Pro118=)
NM_001377.3(DYNC2H1):c.3556G>A (p.Glu1186Lys)
NM_001377.3(DYNC2H1):c.3558G>A (p.Glu1186=)
NM_001377.3(DYNC2H1):c.3560T>C (p.Val1187Ala) rs2134886800
NM_001377.3(DYNC2H1):c.3564C>T (p.Asp1188=)
NM_001377.3(DYNC2H1):c.3573+19T>C
NM_001377.3(DYNC2H1):c.3573+8T>A
NM_001377.3(DYNC2H1):c.3573+9G>T
NM_001377.3(DYNC2H1):c.3574-14T>C rs1591328952
NM_001377.3(DYNC2H1):c.3574-17T>C
NM_001377.3(DYNC2H1):c.3574-19T>A
NM_001377.3(DYNC2H1):c.3574-19T>C
NM_001377.3(DYNC2H1):c.3574-19T>G
NM_001377.3(DYNC2H1):c.3574-20C>A
NM_001377.3(DYNC2H1):c.3574-20del
NM_001377.3(DYNC2H1):c.3574-2A>G
NM_001377.3(DYNC2H1):c.3574-8del rs5794210
NM_001377.3(DYNC2H1):c.3574-8dup
NM_001377.3(DYNC2H1):c.3574-9_3574-8del rs5794210
NM_001377.3(DYNC2H1):c.3576C>A (p.Ile1192=)
NM_001377.3(DYNC2H1):c.3576C>T (p.Ile1192=)
NM_001377.3(DYNC2H1):c.35T>G (p.Phe12Cys)
NM_001377.3(DYNC2H1):c.3600G>C (p.Val1200=)
NM_001377.3(DYNC2H1):c.3601A>C (p.Arg1201=)
NM_001377.3(DYNC2H1):c.3609G>A (p.Glu1203=)
NM_001377.3(DYNC2H1):c.360G>A (p.Leu120=)
NM_001377.3(DYNC2H1):c.3624T>C (p.Asp1208=)
NM_001377.3(DYNC2H1):c.3644G>T (p.Arg1215Leu)
NM_001377.3(DYNC2H1):c.3650T>C (p.Leu1217Pro) rs2134890045
NM_001377.3(DYNC2H1):c.365A>C (p.Lys122Thr)
NM_001377.3(DYNC2H1):c.366+16G>A
NM_001377.3(DYNC2H1):c.366+18C>T
NM_001377.3(DYNC2H1):c.366+19A>G rs1169526058
NM_001377.3(DYNC2H1):c.366+27del
NM_001377.3(DYNC2H1):c.366+27dup rs749527696
NM_001377.3(DYNC2H1):c.366+8A>C
NM_001377.3(DYNC2H1):c.3666G>A (p.Gly1222=)
NM_001377.3(DYNC2H1):c.3666G>T (p.Gly1222=)
NM_001377.3(DYNC2H1):c.367-11T>C
NM_001377.3(DYNC2H1):c.367-14C>T
NM_001377.3(DYNC2H1):c.367-2A>G rs1291197898
NM_001377.3(DYNC2H1):c.367-5T>C
NM_001377.3(DYNC2H1):c.3678G>T (p.Glu1226Asp)
NM_001377.3(DYNC2H1):c.3684A>G (p.Leu1228=)
NM_001377.3(DYNC2H1):c.3690T>C (p.Phe1230=)
NM_001377.3(DYNC2H1):c.3693T>G (p.Gly1231=)
NM_001377.3(DYNC2H1):c.3700C>T (p.Leu1234Phe) rs2134890455
NM_001377.3(DYNC2H1):c.3702C>G (p.Leu1234=)
NM_001377.3(DYNC2H1):c.3705A>G (p.Arg1235=)
NM_001377.3(DYNC2H1):c.3717A>T (p.Thr1239=)
NM_001377.3(DYNC2H1):c.372G>A (p.Gln124=)
NM_001377.3(DYNC2H1):c.3738C>T (p.Asp1246=)
NM_001377.3(DYNC2H1):c.3744+10A>C
NM_001377.3(DYNC2H1):c.3744+10A>G
NM_001377.3(DYNC2H1):c.3744+1G>A
NM_001377.3(DYNC2H1):c.3744+9C>A
NM_001377.3(DYNC2H1):c.3744+9C>G
NM_001377.3(DYNC2H1):c.3745-10T>C
NM_001377.3(DYNC2H1):c.3745-18A>T
NM_001377.3(DYNC2H1):c.3745-19G>A
NM_001377.3(DYNC2H1):c.3745-19G>T
NM_001377.3(DYNC2H1):c.3745-1G>A
NM_001377.3(DYNC2H1):c.3745-7T>A
NM_001377.3(DYNC2H1):c.3750A>G (p.Leu1250=)
NM_001377.3(DYNC2H1):c.3757C>A (p.Arg1253=)
NM_001377.3(DYNC2H1):c.3759G>C (p.Arg1253=)
NM_001377.3(DYNC2H1):c.375A>G (p.Glu125=)
NM_001377.3(DYNC2H1):c.3793_3794insA (p.Arg1265fs)
NM_001377.3(DYNC2H1):c.3794G>A (p.Arg1265His) rs200635842
NM_001377.3(DYNC2H1):c.3794G>T (p.Arg1265Leu) rs200635842
NM_001377.3(DYNC2H1):c.3801T>C (p.Leu1267=)
NM_001377.3(DYNC2H1):c.3807T>G (p.Leu1269=)
NM_001377.3(DYNC2H1):c.3812del (p.Gly1271fs)
NM_001377.3(DYNC2H1):c.3834A>G (p.Leu1278=)
NM_001377.3(DYNC2H1):c.3843T>C (p.Tyr1281=)
NM_001377.3(DYNC2H1):c.3849C>T (p.Asp1283=)
NM_001377.3(DYNC2H1):c.384A>G (p.Arg128=)
NM_001377.3(DYNC2H1):c.3852C>T (p.Ser1284=)
NM_001377.3(DYNC2H1):c.3859C>T (p.Arg1287Ter)
NM_001377.3(DYNC2H1):c.3860G>A (p.Arg1287Gln)
NM_001377.3(DYNC2H1):c.3861A>G (p.Arg1287=)
NM_001377.3(DYNC2H1):c.3879A>G (p.Lys1293=)
NM_001377.3(DYNC2H1):c.3890A>G (p.Asp1297Gly)
NM_001377.3(DYNC2H1):c.3912T>C (p.Asp1304=)
NM_001377.3(DYNC2H1):c.3916A>C (p.Arg1306=)
NM_001377.3(DYNC2H1):c.3927C>T (p.Leu1309=) rs1471816789
NM_001377.3(DYNC2H1):c.3930A>G (p.Gln1310=)
NM_001377.3(DYNC2H1):c.3939G>A (p.Lys1313=)
NM_001377.3(DYNC2H1):c.3951T>C (p.Tyr1317=)
NM_001377.3(DYNC2H1):c.3953A>G (p.Tyr1318Cys)
NM_001377.3(DYNC2H1):c.3984G>A (p.Trp1328Ter)
NM_001377.3(DYNC2H1):c.3995T>G (p.Leu1332Arg) rs786204078
NM_001377.3(DYNC2H1):c.4008T>C (p.Asp1336=)
NM_001377.3(DYNC2H1):c.4009G>T (p.Glu1337Ter)
NM_001377.3(DYNC2H1):c.4017G>A (p.Leu1339=)
NM_001377.3(DYNC2H1):c.4018C>T (p.Gln1340Ter)
NM_001377.3(DYNC2H1):c.4044G>A (p.Lys1348=)
NM_001377.3(DYNC2H1):c.4050G>A (p.Val1350=)
NM_001377.3(DYNC2H1):c.4081T>C (p.Leu1361=)
NM_001377.3(DYNC2H1):c.4086A>G (p.Pro1362=)
NM_001377.3(DYNC2H1):c.408T>C (p.Asn136=)
NM_001377.3(DYNC2H1):c.4098A>C (p.Thr1366=)
NM_001377.3(DYNC2H1):c.4098dup (p.Arg1367fs)
NM_001377.3(DYNC2H1):c.4099C>T (p.Arg1367Cys)
NM_001377.3(DYNC2H1):c.4100G>A (p.Arg1367His) rs1482736503
NM_001377.3(DYNC2H1):c.4101C>T (p.Arg1367=)
NM_001377.3(DYNC2H1):c.4119A>G (p.Glu1373=)
NM_001377.3(DYNC2H1):c.4125T>C (p.Phe1375=)
NM_001377.3(DYNC2H1):c.4127+15G>A
NM_001377.3(DYNC2H1):c.4127+17A>G
NM_001377.3(DYNC2H1):c.4127+17A>T
NM_001377.3(DYNC2H1):c.4127+9A>G
NM_001377.3(DYNC2H1):c.4128-10del
NM_001377.3(DYNC2H1):c.4128-10dup
NM_001377.3(DYNC2H1):c.4128-14T>A
NM_001377.3(DYNC2H1):c.4128-14T>C
NM_001377.3(DYNC2H1):c.4128-18C>T
NM_001377.3(DYNC2H1):c.4128-19A>C
NM_001377.3(DYNC2H1):c.4128-19A>G
NM_001377.3(DYNC2H1):c.4131A>G (p.Ser1377=)
NM_001377.3(DYNC2H1):c.4146C>A (p.Ile1382=)
NM_001377.3(DYNC2H1):c.4153G>T (p.Asp1385Tyr) rs1860945774
NM_001377.3(DYNC2H1):c.4155C>T (p.Asp1385=)
NM_001377.3(DYNC2H1):c.4162_4170dup (p.Val1388_Thr1390dup) rs1555051720
NM_001377.3(DYNC2H1):c.4164C>T (p.Val1388=)
NM_001377.3(DYNC2H1):c.4179T>A (p.Thr1393=)
NM_001377.3(DYNC2H1):c.4215T>G (p.Leu1405=)
NM_001377.3(DYNC2H1):c.4219C>T (p.Gln1407Ter)
NM_001377.3(DYNC2H1):c.4238_4239delinsGG (p.Lys1413Arg)
NM_001377.3(DYNC2H1):c.423A>G (p.Leu141=)
NM_001377.3(DYNC2H1):c.4241C>G (p.Ser1414Ter)
NM_001377.3(DYNC2H1):c.4248T>C (p.Asn1416=)
NM_001377.3(DYNC2H1):c.4256dup (p.Leu1419fs)
NM_001377.3(DYNC2H1):c.4257G>A (p.Leu1419=)
NM_001377.3(DYNC2H1):c.4260+11T>C
NM_001377.3(DYNC2H1):c.4260+11del rs566083620
NM_001377.3(DYNC2H1):c.4260+15A>G
NM_001377.3(DYNC2H1):c.4260+21del
NM_001377.3(DYNC2H1):c.4261-11A>C
NM_001377.3(DYNC2H1):c.4261-18T>C
NM_001377.3(DYNC2H1):c.4261-6T>G
NM_001377.3(DYNC2H1):c.4261-6dup
NM_001377.3(DYNC2H1):c.4266A>G (p.Lys1422=)
NM_001377.3(DYNC2H1):c.4268G>A (p.Arg1423His)
NM_001377.3(DYNC2H1):c.4281A>T (p.Pro1427=)
NM_001377.3(DYNC2H1):c.4302T>C (p.Asp1434=)
NM_001377.3(DYNC2H1):c.4307A>G (p.Asp1436Gly) rs1014987027
NM_001377.3(DYNC2H1):c.4314A>G (p.Leu1438=)
NM_001377.3(DYNC2H1):c.4325G>A (p.Gly1442Asp)
NM_001377.3(DYNC2H1):c.4326C>G (p.Gly1442=)
NM_001377.3(DYNC2H1):c.4328del (p.Gln1443fs) rs2134908680
NM_001377.3(DYNC2H1):c.4329G>A (p.Gln1443=) rs1860964045
NM_001377.3(DYNC2H1):c.433T>C (p.Leu145=)
NM_001377.3(DYNC2H1):c.435G>A (p.Leu145=)
NM_001377.3(DYNC2H1):c.4378+14T>C
NM_001377.3(DYNC2H1):c.4378+15T>A
NM_001377.3(DYNC2H1):c.4378+7T>A
NM_001377.3(DYNC2H1):c.4378+9C>G
NM_001377.3(DYNC2H1):c.4379-13T>C
NM_001377.3(DYNC2H1):c.4379-16T>C
NM_001377.3(DYNC2H1):c.4379-18A>T
NM_001377.3(DYNC2H1):c.4379-1G>C rs1555052497
NM_001377.3(DYNC2H1):c.4379-5T>A
NM_001377.3(DYNC2H1):c.438T>G (p.Gly146=)
NM_001377.3(DYNC2H1):c.4394G>C (p.Cys1465Ser) rs1861065835
NM_001377.3(DYNC2H1):c.4395C>T (p.Cys1465=)
NM_001377.3(DYNC2H1):c.4395_4399del (p.Cys1465_Asp1467delinsTer)
NM_001377.3(DYNC2H1):c.43A>T (p.Thr15Ser)
NM_001377.3(DYNC2H1):c.4413A>G (p.Lys1471=)
NM_001377.3(DYNC2H1):c.4418T>C (p.Ile1473Thr) rs1555052511
NM_001377.3(DYNC2H1):c.4419A>T (p.Ile1473=)
NM_001377.3(DYNC2H1):c.4431A>G (p.Lys1477=)
NM_001377.3(DYNC2H1):c.4449T>G (p.Val1483=)
NM_001377.3(DYNC2H1):c.4452A>G (p.Val1484=)
NM_001377.3(DYNC2H1):c.4452A>T (p.Val1484=)
NM_001377.3(DYNC2H1):c.4458del (p.Phe1486fs) rs1555052524
NM_001377.3(DYNC2H1):c.4472_4473insGGCCGGGCGCGGTGGCTCTCGCCTGTAGTCCCAGCTCATAGGGACGAACCGGCGAGCGTCGCGTCCGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATAAAGTTCC (p.Pro1491_Leu1492insAlaGlyArgGlyGlySerArgLeuTer)
NM_001377.3(DYNC2H1):c.4485T>C (p.Asn1495=)
NM_001377.3(DYNC2H1):c.448C>T (p.Arg150Ter)
NM_001377.3(DYNC2H1):c.4491+14T>A
NM_001377.3(DYNC2H1):c.4491+16T>C
NM_001377.3(DYNC2H1):c.4491+1G>A
NM_001377.3(DYNC2H1):c.4491+2T>C
NM_001377.3(DYNC2H1):c.4491+8A>C
NM_001377.3(DYNC2H1):c.4492-19T>C
NM_001377.3(DYNC2H1):c.4492-1G>A
NM_001377.3(DYNC2H1):c.4496G>A (p.Trp1499Ter)
NM_001377.3(DYNC2H1):c.4500G>A (p.Leu1500=)
NM_001377.3(DYNC2H1):c.4511C>T (p.Ala1504Val)
NM_001377.3(DYNC2H1):c.4512C>T (p.Ala1504=)
NM_001377.3(DYNC2H1):c.4532T>G (p.Leu1511Trp)
NM_001377.3(DYNC2H1):c.4537C>T (p.Gln1513Ter)
NM_001377.3(DYNC2H1):c.4542G>A (p.Leu1514=)
NM_001377.3(DYNC2H1):c.4545G>A (p.Leu1515=)
NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr) rs1555053115
NM_001377.3(DYNC2H1):c.4557T>C (p.Val1519=)
NM_001377.3(DYNC2H1):c.4563T>C (p.Thr1521=)
NM_001377.3(DYNC2H1):c.4567C>G (p.Arg1523Gly)
NM_001377.3(DYNC2H1):c.4568G>A (p.Arg1523Gln)
NM_001377.3(DYNC2H1):c.456A>G (p.Ser152=)
NM_001377.3(DYNC2H1):c.4574C>A (p.Ser1525Tyr)
NM_001377.3(DYNC2H1):c.4596T>C (p.Ser1532=)
NM_001377.3(DYNC2H1):c.459C>T (p.Asp153=)
NM_001377.3(DYNC2H1):c.45T>C (p.Thr15=)
NM_001377.3(DYNC2H1):c.4605T>C (p.Pro1535=)
NM_001377.3(DYNC2H1):c.4611+14C>A
NM_001377.3(DYNC2H1):c.4611+15G>T
NM_001377.3(DYNC2H1):c.4612-10T>C
NM_001377.3(DYNC2H1):c.4612-10del
NM_001377.3(DYNC2H1):c.4612-12T>C
NM_001377.3(DYNC2H1):c.4612-16T>C
NM_001377.3(DYNC2H1):c.4612-5A>G rs2134944031
NM_001377.3(DYNC2H1):c.4625_4627del (p.Ala1542del)
NM_001377.3(DYNC2H1):c.4626G>A (p.Ala1542=)
NM_001377.3(DYNC2H1):c.4629G>A (p.Glu1543=)
NM_001377.3(DYNC2H1):c.4638A>G (p.Lys1546=)
NM_001377.3(DYNC2H1):c.463A>C (p.Asn155His)
NM_001377.3(DYNC2H1):c.4641C>T (p.Phe1547=)
NM_001377.3(DYNC2H1):c.4669G>A (p.Asp1557Asn) rs2134944386
NM_001377.3(DYNC2H1):c.4678_4679insGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATCATAGTC (p.Ser1559_Leu1560insArgArgSerGlnAspGlyArgIleGlyThrAlaProValTyrSerSerGlnArgGluArgArgArgArgArgXaaXaaXaaXaaLysLysLysLysLysLysLysAspHisSer)
NM_001377.3(DYNC2H1):c.4695A>T (p.Thr1565=)
NM_001377.3(DYNC2H1):c.4696C>G (p.Gln1566Glu)
NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs) rs1565359085
NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val) rs901629870
NM_001377.3(DYNC2H1):c.4701G>A (p.Leu1567=)
NM_001377.3(DYNC2H1):c.4702G>T (p.Val1568Leu)
NM_001377.3(DYNC2H1):c.4716G>A (p.Glu1572=)
NM_001377.3(DYNC2H1):c.4724del (p.Thr1575fs) rs1243716539
NM_001377.3(DYNC2H1):c.4728C>T (p.Asn1576=) rs72989738
NM_001377.3(DYNC2H1):c.4729A>G (p.Ile1577Val)
NM_001377.3(DYNC2H1):c.4743T>G (p.Ser1581=)
NM_001377.3(DYNC2H1):c.4755G>A (p.Gly1585=)
NM_001377.3(DYNC2H1):c.4759A>G (p.Thr1587Ala)
NM_001377.3(DYNC2H1):c.4762+17C>A
NM_001377.3(DYNC2H1):c.4762+9A>G
NM_001377.3(DYNC2H1):c.4763-16T>C
NM_001377.3(DYNC2H1):c.4766C>T (p.Ser1589Leu)
NM_001377.3(DYNC2H1):c.4794C>T (p.Ala1598=)
NM_001377.3(DYNC2H1):c.4806C>T (p.Asp1602=)
NM_001377.3(DYNC2H1):c.4813C>T (p.His1605Tyr) rs2134958830
NM_001377.3(DYNC2H1):c.4818T>C (p.Asn1606=)
NM_001377.3(DYNC2H1):c.4833G>A (p.Lys1611=)
NM_001377.3(DYNC2H1):c.4836G>A (p.Gln1612=) rs1353156483
NM_001377.3(DYNC2H1):c.4845A>G (p.Gln1615=)
NM_001377.3(DYNC2H1):c.4857T>C (p.His1619=)
NM_001377.3(DYNC2H1):c.4870_4871del (p.Trp1624fs)
NM_001377.3(DYNC2H1):c.4893A>G (p.Arg1631=)
NM_001377.3(DYNC2H1):c.4898A>G (p.Tyr1633Cys)
NM_001377.3(DYNC2H1):c.489A>G (p.Glu163=)
NM_001377.3(DYNC2H1):c.4909G>T (p.Asp1637Tyr)
NM_001377.3(DYNC2H1):c.4917A>G (p.Thr1639=)
NM_001377.3(DYNC2H1):c.4919G>T (p.Cys1640Phe) rs776388776
NM_001377.3(DYNC2H1):c.4941T>G (p.Ser1647=) rs981069530
NM_001377.3(DYNC2H1):c.495C>T (p.Asp165=)
NM_001377.3(DYNC2H1):c.4968+12G>A
NM_001377.3(DYNC2H1):c.4968+8T>G
NM_001377.3(DYNC2H1):c.4969-2A>G
NM_001377.3(DYNC2H1):c.4969-6G>A
NM_001377.3(DYNC2H1):c.496A>G (p.Thr166Ala)
NM_001377.3(DYNC2H1):c.4971T>A (p.Gly1657=)
NM_001377.3(DYNC2H1):c.4977T>G (p.Ala1659=)
NM_001377.3(DYNC2H1):c.4992T>C (p.Tyr1664=)
NM_001377.3(DYNC2H1):c.499C>A (p.Arg167=)
NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter) rs755464335
NM_001377.3(DYNC2H1):c.500G>A (p.Arg167Gln)
NM_001377.3(DYNC2H1):c.5014T>C (p.Tyr1672His)
NM_001377.3(DYNC2H1):c.502+11A>G
NM_001377.3(DYNC2H1):c.502+13A>T
NM_001377.3(DYNC2H1):c.502+20T>A
NM_001377.3(DYNC2H1):c.502+9C>T
NM_001377.3(DYNC2H1):c.5021C>G (p.Thr1674Ser)
NM_001377.3(DYNC2H1):c.503-14C>G
NM_001377.3(DYNC2H1):c.503-17C>T
NM_001377.3(DYNC2H1):c.503-18C>T
NM_001377.3(DYNC2H1):c.503-19C>T
NM_001377.3(DYNC2H1):c.503-20T>C
NM_001377.3(DYNC2H1):c.503G>A (p.Gly168Asp)
NM_001377.3(DYNC2H1):c.5047del (p.Gly1684fs)
NM_001377.3(DYNC2H1):c.5058T>C (p.Asn1686=)
NM_001377.3(DYNC2H1):c.5064T>C (p.Tyr1688=)
NM_001377.3(DYNC2H1):c.5114T>C (p.Leu1705Pro) rs878854166
NM_001377.3(DYNC2H1):c.5122A>C (p.Arg1708=)
NM_001377.3(DYNC2H1):c.5125C>T (p.Gln1709Ter)
NM_001377.3(DYNC2H1):c.5141A>T (p.Asn1714Ile) rs2134964404
NM_001377.3(DYNC2H1):c.5143T>A (p.Cys1715Ser)
NM_001377.3(DYNC2H1):c.5151+12A>C
NM_001377.3(DYNC2H1):c.5151+13A>T
NM_001377.3(DYNC2H1):c.5151+18C>G
NM_001377.3(DYNC2H1):c.5151+7T>C
NM_001377.3(DYNC2H1):c.5152-15_5152-13del
NM_001377.3(DYNC2H1):c.5152-16T>C
NM_001377.3(DYNC2H1):c.5152-9G>T
NM_001377.3(DYNC2H1):c.5157C>T (p.Ile1719=)
NM_001377.3(DYNC2H1):c.5166G>A (p.Lys1722=)
NM_001377.3(DYNC2H1):c.5178A>C (p.Arg1726=) rs376307935
NM_001377.3(DYNC2H1):c.5178A>G (p.Arg1726=)
NM_001377.3(DYNC2H1):c.517A>T (p.Ser173Cys)
NM_001377.3(DYNC2H1):c.5199G>A (p.Lys1733=)
NM_001377.3(DYNC2H1):c.51C>A (p.Thr17=)
NM_001377.3(DYNC2H1):c.5213G>T (p.Gly1738Val) rs1209973260
NM_001377.3(DYNC2H1):c.5226A>G (p.Glu1742=)
NM_001377.3(DYNC2H1):c.5241A>G (p.Glu1747=)
NM_001377.3(DYNC2H1):c.5250A>G (p.Val1750=)
NM_001377.3(DYNC2H1):c.5250A>T (p.Val1750=)
NM_001377.3(DYNC2H1):c.5253G>T (p.Leu1751=)
NM_001377.3(DYNC2H1):c.5256A>G (p.Ser1752=)
NM_001377.3(DYNC2H1):c.525G>A (p.Glu175=)
NM_001377.3(DYNC2H1):c.5262T>C (p.Val1754=)
NM_001377.3(DYNC2H1):c.5271A>G (p.Gln1757=)
NM_001377.3(DYNC2H1):c.5280A>T (p.Thr1760=)
NM_001377.3(DYNC2H1):c.5291dup (p.Leu1765fs)
NM_001377.3(DYNC2H1):c.5304_5305del (p.His1768fs)
NM_001377.3(DYNC2H1):c.5310T>C (p.Thr1770=)
NM_001377.3(DYNC2H1):c.5315G>A (p.Cys1772Tyr)
NM_001377.3(DYNC2H1):c.5331G>A (p.Lys1777=)
NM_001377.3(DYNC2H1):c.5334+15G>T
NM_001377.3(DYNC2H1):c.5334+16G>A
NM_001377.3(DYNC2H1):c.5334+17G>C
NM_001377.3(DYNC2H1):c.5334+17del
NM_001377.3(DYNC2H1):c.5334+7A>G
NM_001377.3(DYNC2H1):c.5335-11_5335-8del
NM_001377.3(DYNC2H1):c.5335-1G>A
NM_001377.3(DYNC2H1):c.5379T>C (p.Pro1793=)
NM_001377.3(DYNC2H1):c.5382T>C (p.Ala1794=)
NM_001377.3(DYNC2H1):c.5390G>T (p.Gly1797Val)
NM_001377.3(DYNC2H1):c.5391T>A (p.Gly1797=)
NM_001377.3(DYNC2H1):c.5399G>A (p.Gly1800Glu) rs1555056136
NM_001377.3(DYNC2H1):c.5415T>C (p.Pro1805=)
NM_001377.3(DYNC2H1):c.5417A>C (p.Asp1806Ala)
NM_001377.3(DYNC2H1):c.544C>G (p.Gln182Glu)
NM_001377.3(DYNC2H1):c.5469G>A (p.Glu1823=)
NM_001377.3(DYNC2H1):c.5486T>C (p.Ile1829Thr) rs367807679
NM_001377.3(DYNC2H1):c.5493T>C (p.Tyr1831=)
NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) rs754919042
NM_001377.3(DYNC2H1):c.5507_5508del (p.Lys1836fs)
NM_001377.3(DYNC2H1):c.5511C>A (p.Asp1837Glu)
NM_001377.3(DYNC2H1):c.5520A>G (p.Val1840=)
NM_001377.3(DYNC2H1):c.5521T>C (p.Leu1841=)
NM_001377.3(DYNC2H1):c.5527A>T (p.Arg1843Ter)
NM_001377.3(DYNC2H1):c.5548A>G (p.Asn1850Asp)
NM_001377.3(DYNC2H1):c.554G>A (p.Arg185His) rs199960819
NM_001377.3(DYNC2H1):c.5553A>G (p.Leu1851=)
NM_001377.3(DYNC2H1):c.5558+10C>T
NM_001377.3(DYNC2H1):c.5558+13G>C
NM_001377.3(DYNC2H1):c.5558+16C>G
NM_001377.3(DYNC2H1):c.5558+16C>T
NM_001377.3(DYNC2H1):c.5558+1G>A
NM_001377.3(DYNC2H1):c.5558+2T>C rs762666243
NM_001377.3(DYNC2H1):c.5559-13G>A
NM_001377.3(DYNC2H1):c.5559-19T>C
NM_001377.3(DYNC2H1):c.5559-2A>G
NM_001377.3(DYNC2H1):c.5559-7A>G
NM_001377.3(DYNC2H1):c.5559-9C>G
NM_001377.3(DYNC2H1):c.5571A>C (p.Thr1857=)
NM_001377.3(DYNC2H1):c.5585A>G (p.Tyr1862Cys)
NM_001377.3(DYNC2H1):c.5586T>C (p.Tyr1862=)
NM_001377.3(DYNC2H1):c.558A>G (p.Gly186=)
NM_001377.3(DYNC2H1):c.5593G>A (p.Gly1865Ser)
NM_001377.3(DYNC2H1):c.5610G>A (p.Lys1870=)
NM_001377.3(DYNC2H1):c.5612del (p.Thr1871fs) rs1555056464
NM_001377.3(DYNC2H1):c.5613A>G (p.Thr1871=)
NM_001377.3(DYNC2H1):c.5628T>C (p.Ser1876=) rs1329413988
NM_001377.3(DYNC2H1):c.5631A>G (p.Gly1877=)
NM_001377.3(DYNC2H1):c.5643_5646del (p.Arg1881fs)
NM_001377.3(DYNC2H1):c.564A>G (p.Lys188=) rs2134689429
NM_001377.3(DYNC2H1):c.5674+11T>C
NM_001377.3(DYNC2H1):c.5674+4T>G
NM_001377.3(DYNC2H1):c.5674+7T>C
NM_001377.3(DYNC2H1):c.5675-10T>G
NM_001377.3(DYNC2H1):c.5675-14A>C
NM_001377.3(DYNC2H1):c.5675-18A>C
NM_001377.3(DYNC2H1):c.5675-20A>G
NM_001377.3(DYNC2H1):c.5675-20A>T
NM_001377.3(DYNC2H1):c.5675-5del
NM_001377.3(DYNC2H1):c.5675-5dup
NM_001377.3(DYNC2H1):c.5675-6_5675-5del
NM_001377.3(DYNC2H1):c.5675-7T>G
NM_001377.3(DYNC2H1):c.5679T>C (p.Asn1893=)
NM_001377.3(DYNC2H1):c.5682_5683del (p.His1896fs) rs767846762
NM_001377.3(DYNC2H1):c.5685T>C (p.Ser1895=)
NM_001377.3(DYNC2H1):c.5688T>C (p.His1896=)
NM_001377.3(DYNC2H1):c.5718C>G (p.Thr1906=)
NM_001377.3(DYNC2H1):c.5724A>G (p.Ser1908=)
NM_001377.3(DYNC2H1):c.5733G>A (p.Thr1911=)
NM_001377.3(DYNC2H1):c.5733G>C (p.Thr1911=)
NM_001377.3(DYNC2H1):c.5739T>C (p.Thr1913=)
NM_001377.3(DYNC2H1):c.5750G>A (p.Arg1917Gln)
NM_001377.3(DYNC2H1):c.5757T>C (p.Asp1919=)
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val) rs1565368733
NM_001377.3(DYNC2H1):c.5783G>A (p.Gly1928Glu) rs1164274164
NM_001377.3(DYNC2H1):c.5786T>C (p.Ile1929Thr) rs2134988923
NM_001377.3(DYNC2H1):c.5791T>C (p.Leu1931=)
NM_001377.3(DYNC2H1):c.5793G>A (p.Leu1931=)
NM_001377.3(DYNC2H1):c.5797_5798del (p.Glu1933fs) rs1565368793
NM_001377.3(DYNC2H1):c.5820T>C (p.Ser1940=)
NM_001377.3(DYNC2H1):c.5826A>G (p.Ala1942=)
NM_001377.3(DYNC2H1):c.5838C>T (p.Val1946=)
NM_001377.3(DYNC2H1):c.5846del (p.Glu1949fs) rs794727595
NM_001377.3(DYNC2H1):c.5847G>A (p.Glu1949=)
NM_001377.3(DYNC2H1):c.5850C>T (p.Ala1950=)
NM_001377.3(DYNC2H1):c.585C>T (p.Ala195=) rs1858326731
NM_001377.3(DYNC2H1):c.5874+7G>T rs1405066753
NM_001377.3(DYNC2H1):c.5874+9C>A
NM_001377.3(DYNC2H1):c.5875-16A>T
NM_001377.3(DYNC2H1):c.5875-20A>G
NM_001377.3(DYNC2H1):c.5875-20A>T rs532424006
NM_001377.3(DYNC2H1):c.5875-2A>T
NM_001377.3(DYNC2H1):c.5875-5A>T
NM_001377.3(DYNC2H1):c.5875-6T>C
NM_001377.3(DYNC2H1):c.5882dup (p.Ala1962fs)
NM_001377.3(DYNC2H1):c.5885C>G (p.Ala1962Gly) rs2134994109
NM_001377.3(DYNC2H1):c.5913G>A (p.Gln1971=)
NM_001377.3(DYNC2H1):c.591T>C (p.Tyr197=)
NM_001377.3(DYNC2H1):c.5922A>T (p.Gly1974=)
NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs) rs1380132788
NM_001377.3(DYNC2H1):c.5934T>C (p.Val1978=)
NM_001377.3(DYNC2H1):c.5943T>C (p.Ser1981=)
NM_001377.3(DYNC2H1):c.5961G>A (p.Thr1987=)
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.5985G>A (p.Ala1995=)
NM_001377.3(DYNC2H1):c.6012A>G (p.Lys2004=)
NM_001377.3(DYNC2H1):c.603A>G (p.Leu201=)
NM_001377.3(DYNC2H1):c.6042T>C (p.Pro2014=)
NM_001377.3(DYNC2H1):c.6043C>T (p.Arg2015Ter)
NM_001377.3(DYNC2H1):c.6069C>T (p.Asp2023=)
NM_001377.3(DYNC2H1):c.6084A>G (p.Glu2028=)
NM_001377.3(DYNC2H1):c.6093T>C (p.Asp2031=)
NM_001377.3(DYNC2H1):c.6099_6102dup (p.Thr2035fs)
NM_001377.3(DYNC2H1):c.60C>T (p.Tyr20=)
NM_001377.3(DYNC2H1):c.6105A>T (p.Thr2035=)
NM_001377.3(DYNC2H1):c.6111T>C (p.Ser2037=)
NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His) rs1555057503
NM_001377.3(DYNC2H1):c.6120A>G (p.Gln2040=)
NM_001377.3(DYNC2H1):c.6139+12T>G
NM_001377.3(DYNC2H1):c.6139+19T>C
NM_001377.3(DYNC2H1):c.6139+2T>C
NM_001377.3(DYNC2H1):c.6140-20C>T
NM_001377.3(DYNC2H1):c.6140-5A>G
NM_001377.3(DYNC2H1):c.6144C>T (p.Val2048=)
NM_001377.3(DYNC2H1):c.6147C>T (p.Ser2049=)
NM_001377.3(DYNC2H1):c.6149C>G (p.Ser2050Ter)
NM_001377.3(DYNC2H1):c.6150A>C (p.Ser2050=)
NM_001377.3(DYNC2H1):c.6161G>C (p.Cys2054Ser) rs1555057838
NM_001377.3(DYNC2H1):c.6183A>G (p.Glu2061=)
NM_001377.3(DYNC2H1):c.6207T>C (p.Val2069=)
NM_001377.3(DYNC2H1):c.6208C>T (p.Leu2070=)
NM_001377.3(DYNC2H1):c.622-19T>G
NM_001377.3(DYNC2H1):c.622-4C>A
NM_001377.3(DYNC2H1):c.622-5dup
NM_001377.3(DYNC2H1):c.622-8T>G
NM_001377.3(DYNC2H1):c.6220C>T (p.Arg2074Ter)
NM_001377.3(DYNC2H1):c.6228G>A (p.Leu2076=)
NM_001377.3(DYNC2H1):c.622G>A (p.Glu208Lys)
NM_001377.3(DYNC2H1):c.624G>A (p.Glu208=)
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.6255G>A (p.Gln2085=)
NM_001377.3(DYNC2H1):c.6264A>G (p.Pro2088=)
NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp) rs753662982
NM_001377.3(DYNC2H1):c.6267T>C (p.Asn2089=) rs757263822
NM_001377.3(DYNC2H1):c.6273C>T (p.Asn2091=)
NM_001377.3(DYNC2H1):c.6276T>C (p.Phe2092=)
NM_001377.3(DYNC2H1):c.6306A>G (p.Ala2102=)
NM_001377.3(DYNC2H1):c.6311C>T (p.Pro2104Leu)
NM_001377.3(DYNC2H1):c.6335T>A (p.Met2112Lys) rs2135001459
NM_001377.3(DYNC2H1):c.6336G>T (p.Met2112Ile)
NM_001377.3(DYNC2H1):c.6347+14T>C
NM_001377.3(DYNC2H1):c.6347+1G>A rs1565371538
NM_001377.3(DYNC2H1):c.6347+7C>T
NM_001377.3(DYNC2H1):c.6347+8A>G
NM_001377.3(DYNC2H1):c.6347+8A>T
NM_001377.3(DYNC2H1):c.6348-17T>C
NM_001377.3(DYNC2H1):c.6348-4T>G
NM_001377.3(DYNC2H1):c.6351T>C (p.Asp2117=)
NM_001377.3(DYNC2H1):c.635T>C (p.Leu212Ser)
NM_001377.3(DYNC2H1):c.6383C>T (p.Ser2128Phe)
NM_001377.3(DYNC2H1):c.6386_6393del (p.Ser2128_Trp2129insTer)
NM_001377.3(DYNC2H1):c.639C>T (p.Asp213=)
NM_001377.3(DYNC2H1):c.6466G>A (p.Val2156Ile)
NM_001377.3(DYNC2H1):c.6477+10C>T
NM_001377.3(DYNC2H1):c.6477+12A>G
NM_001377.3(DYNC2H1):c.6477+15A>G
NM_001377.3(DYNC2H1):c.6477+15_6477+17del
NM_001377.3(DYNC2H1):c.6477+17A>G
NM_001377.3(DYNC2H1):c.6477+19T>A
NM_001377.3(DYNC2H1):c.6477+1G>A rs756313208
NM_001377.3(DYNC2H1):c.6478-12T>A
NM_001377.3(DYNC2H1):c.6478-19C>T
NM_001377.3(DYNC2H1):c.6485_6486del (p.Tyr2162fs)
NM_001377.3(DYNC2H1):c.648C>T (p.Ser216=)
NM_001377.3(DYNC2H1):c.6510G>A (p.Gly2170=)
NM_001377.3(DYNC2H1):c.6512C>T (p.Thr2171Ile)
NM_001377.3(DYNC2H1):c.651A>G (p.Leu217=)
NM_001377.3(DYNC2H1):c.6522T>C (p.Asn2174=)
NM_001377.3(DYNC2H1):c.6537A>G (p.Leu2179=)
NM_001377.3(DYNC2H1):c.6543T>C (p.Gly2181=)
NM_001377.3(DYNC2H1):c.6555T>C (p.His2185=)
NM_001377.3(DYNC2H1):c.6558C>A (p.Asp2186Glu) rs199675558
NM_001377.3(DYNC2H1):c.6559G>A (p.Glu2187Lys)
NM_001377.3(DYNC2H1):c.6560A>G (p.Glu2187Gly) rs745882724
NM_001377.3(DYNC2H1):c.6579A>C (p.Ile2193=)
NM_001377.3(DYNC2H1):c.6582G>A (p.Arg2194=)
NM_001377.3(DYNC2H1):c.6585A>T (p.Gly2195=)
NM_001377.3(DYNC2H1):c.658G>T (p.Val220Phe) rs1565311011
NM_001377.3(DYNC2H1):c.6612A>C (p.Ser2204=)
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.6626C>T (p.Thr2209Ile)
NM_001377.3(DYNC2H1):c.6633+13T>C
NM_001377.3(DYNC2H1):c.6633+14A>G
NM_001377.3(DYNC2H1):c.6633+15T>C
NM_001377.3(DYNC2H1):c.6633+16dup
NM_001377.3(DYNC2H1):c.6633+1G>A
NM_001377.3(DYNC2H1):c.6634-13T>C
NM_001377.3(DYNC2H1):c.6634-13T>G
NM_001377.3(DYNC2H1):c.6634-18C>G
NM_001377.3(DYNC2H1):c.6634-1G>C
NM_001377.3(DYNC2H1):c.6634-8C>T
NM_001377.3(DYNC2H1):c.6636T>C (p.Val2212=)
NM_001377.3(DYNC2H1):c.6645G>A (p.Trp2215Ter)
NM_001377.3(DYNC2H1):c.6649C>T (p.Arg2217Ter)
NM_001377.3(DYNC2H1):c.6663A>G (p.Pro2221=)
NM_001377.3(DYNC2H1):c.6694G>C (p.Asp2232His) rs1555061008
NM_001377.3(DYNC2H1):c.66G>T (p.Gly22=)
NM_001377.3(DYNC2H1):c.6703del (p.Arg2235fs)
NM_001377.3(DYNC2H1):c.6709C>T (p.Arg2237Ter)
NM_001377.3(DYNC2H1):c.6711A>C (p.Arg2237=)
NM_001377.3(DYNC2H1):c.6720A>G (p.Thr2240=)
NM_001377.3(DYNC2H1):c.6738A>G (p.Pro2246=)
NM_001377.3(DYNC2H1):c.6740A>G (p.Glu2247Gly)
NM_001377.3(DYNC2H1):c.6751del (p.Ala2251fs)
NM_001377.3(DYNC2H1):c.6753T>G (p.Ala2251=)
NM_001377.3(DYNC2H1):c.6755A>G (p.Asp2252Gly)
NM_001377.3(DYNC2H1):c.6768C>T (p.Asn2256=)
NM_001377.3(DYNC2H1):c.6775A>G (p.Thr2259Ala)
NM_001377.3(DYNC2H1):c.6783A>G (p.Pro2261=)
NM_001377.3(DYNC2H1):c.6786C>G (p.Val2262=)
NM_001377.3(DYNC2H1):c.678T>C (p.Thr226=)
NM_001377.3(DYNC2H1):c.6790C>T (p.Gln2264Ter)
NM_001377.3(DYNC2H1):c.6799G>A (p.Asp2267Asn) rs2135029173
NM_001377.3(DYNC2H1):c.6801C>T (p.Asp2267=)
NM_001377.3(DYNC2H1):c.6803T>C (p.Met2268Thr)
NM_001377.3(DYNC2H1):c.6808C>T (p.Arg2270Ter)
NM_001377.3(DYNC2H1):c.6814C>T (p.Leu2272=)
NM_001377.3(DYNC2H1):c.6820T>G (p.Tyr2274Asp)
NM_001377.3(DYNC2H1):c.6858C>G (p.Pro2286=)
NM_001377.3(DYNC2H1):c.6873A>G (p.Gly2291=)
NM_001377.3(DYNC2H1):c.6875dup (p.Glu2293fs)
NM_001377.3(DYNC2H1):c.6888C>T (p.Gly2296=)
NM_001377.3(DYNC2H1):c.6891A>G (p.Lys2297=)
NM_001377.3(DYNC2H1):c.6893+13T>C
NM_001377.3(DYNC2H1):c.6893+17C>T
NM_001377.3(DYNC2H1):c.6893+1G>A
NM_001377.3(DYNC2H1):c.6894-13G>A
NM_001377.3(DYNC2H1):c.6894-14T>C
NM_001377.3(DYNC2H1):c.6894-15A>G
NM_001377.3(DYNC2H1):c.6894-16C>A
NM_001377.3(DYNC2H1):c.6894-18G>A
NM_001377.3(DYNC2H1):c.6894-19T>A
NM_001377.3(DYNC2H1):c.6894-1G>A
NM_001377.3(DYNC2H1):c.6900G>A (p.Leu2300=)
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.6912A>G (p.Ala2304=)
NM_001377.3(DYNC2H1):c.6918A>C (p.Ser2306=)
NM_001377.3(DYNC2H1):c.6924C>A (p.Leu2308=)
NM_001377.3(DYNC2H1):c.6925C>T (p.Arg2309Trp)
NM_001377.3(DYNC2H1):c.6927G>A (p.Arg2309=)
NM_001377.3(DYNC2H1):c.6931A>G (p.Thr2311Ala) rs760509494
NM_001377.3(DYNC2H1):c.6933T>G (p.Thr2311=)
NM_001377.3(DYNC2H1):c.6936A>G (p.Gln2312=)
NM_001377.3(DYNC2H1):c.6954T>C (p.Cys2318=)
NM_001377.3(DYNC2H1):c.6957T>C (p.Ser2319=)
NM_001377.3(DYNC2H1):c.6958G>T (p.Ala2320Ser)
NM_001377.3(DYNC2H1):c.6963A>G (p.Gln2321=)
NM_001377.3(DYNC2H1):c.6973C>T (p.Arg2325Ter)
NM_001377.3(DYNC2H1):c.6974G>A (p.Arg2325Gln)
NM_001377.3(DYNC2H1):c.6975A>G (p.Arg2325=)
NM_001377.3(DYNC2H1):c.6981C>T (p.Leu2327=)
NM_001377.3(DYNC2H1):c.699T>C (p.Asp233=)
NM_001377.3(DYNC2H1):c.7001C>T (p.Thr2334Ile)
NM_001377.3(DYNC2H1):c.7005C>T (p.Cys2335=)
NM_001377.3(DYNC2H1):c.7020T>A (p.Thr2340=)
NM_001377.3(DYNC2H1):c.7020T>G (p.Thr2340=)
NM_001377.3(DYNC2H1):c.7032T>A (p.Arg2344=) rs760382908
NM_001377.3(DYNC2H1):c.7032T>C (p.Arg2344=)
NM_001377.3(DYNC2H1):c.7035A>C (p.Val2345=)
NM_001377.3(DYNC2H1):c.7035A>G (p.Val2345=)
NM_001377.3(DYNC2H1):c.7053_7054del (p.Cys2351_Glu2352delinsTer)
NM_001377.3(DYNC2H1):c.7057del (p.Arg2353fs)
NM_001377.3(DYNC2H1):c.7065T>A (p.Val2355=)
NM_001377.3(DYNC2H1):c.7074A>G (p.Leu2358=)
NM_001377.3(DYNC2H1):c.7079del (p.Asp2360fs)
NM_001377.3(DYNC2H1):c.7098T>G (p.Leu2366=)
NM_001377.3(DYNC2H1):c.7101T>C (p.Asp2367=)
NM_001377.3(DYNC2H1):c.7110G>C (p.Gly2370=)
NM_001377.3(DYNC2H1):c.7113C>G (p.Thr2371=)
NM_001377.3(DYNC2H1):c.7113C>T (p.Thr2371=)
NM_001377.3(DYNC2H1):c.7119T>A (p.Thr2373=)
NM_001377.3(DYNC2H1):c.7121T>C (p.Leu2374Ser) rs969682915
NM_001377.3(DYNC2H1):c.7129T>G (p.Phe2377Val) rs1565379048
NM_001377.3(DYNC2H1):c.7130del (p.Phe2377fs)
NM_001377.3(DYNC2H1):c.713C>G (p.Thr238Arg)
NM_001377.3(DYNC2H1):c.7140+11T>C
NM_001377.3(DYNC2H1):c.7140+13del
NM_001377.3(DYNC2H1):c.7140+17G>A
NM_001377.3(DYNC2H1):c.7140+19A>C
NM_001377.3(DYNC2H1):c.7141-18A>G
NM_001377.3(DYNC2H1):c.7141-19T>C
NM_001377.3(DYNC2H1):c.7141-8del
NM_001377.3(DYNC2H1):c.7141G>T (p.Val2381Leu) rs757701499
NM_001377.3(DYNC2H1):c.7148C>T (p.Thr2383Met)
NM_001377.3(DYNC2H1):c.7156G>T (p.Gly2386Ter)
NM_001377.3(DYNC2H1):c.7174T>C (p.Leu2392=)
NM_001377.3(DYNC2H1):c.719A>G (p.His240Arg) rs749778723
NM_001377.3(DYNC2H1):c.7216A>G (p.Met2406Val)
NM_001377.3(DYNC2H1):c.7231A>C (p.Arg2411=)
NM_001377.3(DYNC2H1):c.7236G>A (p.Leu2412=)
NM_001377.3(DYNC2H1):c.7243_7244insTT (p.His2415fs)
NM_001377.3(DYNC2H1):c.7248A>G (p.Lys2416=)
NM_001377.3(DYNC2H1):c.7254T>C (p.Thr2418=)
NM_001377.3(DYNC2H1):c.7272C>T (p.Ile2424=)
NM_001377.3(DYNC2H1):c.7273G>A (p.Val2425Ile)
NM_001377.3(DYNC2H1):c.7284T>A (p.Cys2428Ter)
NM_001377.3(DYNC2H1):c.728A>G (p.Tyr243Cys)
NM_001377.3(DYNC2H1):c.7292+10T>C
NM_001377.3(DYNC2H1):c.7292+14T>A
NM_001377.3(DYNC2H1):c.7292+19C>G
NM_001377.3(DYNC2H1):c.7293-11A>G
NM_001377.3(DYNC2H1):c.7293-11A>T
NM_001377.3(DYNC2H1):c.7293-13C>A
NM_001377.3(DYNC2H1):c.7293-17T>C
NM_001377.3(DYNC2H1):c.7293-3T>C
NM_001377.3(DYNC2H1):c.7293-3del
NM_001377.3(DYNC2H1):c.7293-3dup
NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter) rs1565311145
NM_001377.3(DYNC2H1):c.729T>C (p.Tyr243=)
NM_001377.3(DYNC2H1):c.72G>A (p.Met24Ile)
NM_001377.3(DYNC2H1):c.7314A>G (p.Leu2438=)
NM_001377.3(DYNC2H1):c.7317A>G (p.Gln2439=)
NM_001377.3(DYNC2H1):c.731C>T (p.Pro244Leu) rs768145132
NM_001377.3(DYNC2H1):c.7323T>A (p.Ile2441=)
NM_001377.3(DYNC2H1):c.7326T>C (p.Tyr2442=)
NM_001377.3(DYNC2H1):c.732T>A (p.Pro244=)
NM_001377.3(DYNC2H1):c.7331C>T (p.Ala2444Val)
NM_001377.3(DYNC2H1):c.7332A>G (p.Ala2444=)
NM_001377.3(DYNC2H1):c.7343del (p.Pro2448fs)
NM_001377.3(DYNC2H1):c.7368T>A (p.Asn2456Lys)
NM_001377.3(DYNC2H1):c.7368T>C (p.Asn2456=)
NM_001377.3(DYNC2H1):c.7380G>A (p.Trp2460Ter) rs921573478
NM_001377.3(DYNC2H1):c.7425A>G (p.Gln2475=)
NM_001377.3(DYNC2H1):c.7428G>T (p.Val2476=)
NM_001377.3(DYNC2H1):c.7435C>T (p.Gln2479Ter) rs200989423
NM_001377.3(DYNC2H1):c.7437+18T>C
NM_001377.3(DYNC2H1):c.7437+8T>C
NM_001377.3(DYNC2H1):c.7438-14A>G
NM_001377.3(DYNC2H1):c.7438-16G>A
NM_001377.3(DYNC2H1):c.7438-16G>C
NM_001377.3(DYNC2H1):c.7438-2A>G rs1555063811
NM_001377.3(DYNC2H1):c.7438-9C>G
NM_001377.3(DYNC2H1):c.7440G>C (p.Val2480=)
NM_001377.3(DYNC2H1):c.7467T>C (p.Tyr2489=)
NM_001377.3(DYNC2H1):c.7470T>C (p.Ser2490=)
NM_001377.3(DYNC2H1):c.7476T>C (p.Tyr2492=)
NM_001377.3(DYNC2H1):c.747G>A (p.Leu249=)
NM_001377.3(DYNC2H1):c.7485T>C (p.Thr2495=)
NM_001377.3(DYNC2H1):c.7488T>C (p.Pro2496=)
NM_001377.3(DYNC2H1):c.7495C>G (p.Leu2499Val) rs878854167
NM_001377.3(DYNC2H1):c.7503A>G (p.Gln2501=)
NM_001377.3(DYNC2H1):c.7527T>A (p.Tyr2509Ter)
NM_001377.3(DYNC2H1):c.7527T>C (p.Tyr2509=)
NM_001377.3(DYNC2H1):c.7527T>G (p.Tyr2509Ter)
NM_001377.3(DYNC2H1):c.753C>G (p.Leu251=)
NM_001377.3(DYNC2H1):c.7540+10G>A
NM_001377.3(DYNC2H1):c.7540+13del
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001377.3(DYNC2H1):c.7540+14G>C
NM_001377.3(DYNC2H1):c.7540+14G>T rs115273161
NM_001377.3(DYNC2H1):c.7540+17T>G
NM_001377.3(DYNC2H1):c.7540+18G>C
NM_001377.3(DYNC2H1):c.7540+19del
NM_001377.3(DYNC2H1):c.7540+20A>T rs535988847
NM_001377.3(DYNC2H1):c.7541-20T>C
NM_001377.3(DYNC2H1):c.7541-2A>G
NM_001377.3(DYNC2H1):c.7541-8T>C
NM_001377.3(DYNC2H1):c.7541-8T>G
NM_001377.3(DYNC2H1):c.7542A>G (p.Gly2514=)
NM_001377.3(DYNC2H1):c.7542A>T (p.Gly2514=)
NM_001377.3(DYNC2H1):c.7552C>T (p.His2518Tyr)
NM_001377.3(DYNC2H1):c.7554T>C (p.His2518=) rs2135052860
NM_001377.3(DYNC2H1):c.7562A>C (p.Asp2521Ala)
NM_001377.3(DYNC2H1):c.7569G>T (p.Val2523=)
NM_001377.3(DYNC2H1):c.7602A>G (p.Leu2534=)
NM_001377.3(DYNC2H1):c.7626A>G (p.Ala2542=)
NM_001377.3(DYNC2H1):c.7630del (p.Glu2544fs)
NM_001377.3(DYNC2H1):c.766+10A>G
NM_001377.3(DYNC2H1):c.766+13A>C
NM_001377.3(DYNC2H1):c.766+15del
NM_001377.3(DYNC2H1):c.767-10G>A
NM_001377.3(DYNC2H1):c.767-12A>C
NM_001377.3(DYNC2H1):c.767-12A>G
NM_001377.3(DYNC2H1):c.767-12_767-11del
NM_001377.3(DYNC2H1):c.767-5A>G
NM_001377.3(DYNC2H1):c.7683C>A (p.Gly2561=)
NM_001377.3(DYNC2H1):c.7686A>G (p.Ser2562=)
NM_001377.3(DYNC2H1):c.7689C>T (p.Asp2563=)
NM_001377.3(DYNC2H1):c.7708+14G>A
NM_001377.3(DYNC2H1):c.7708+19T>C
NM_001377.3(DYNC2H1):c.7708+20G>A
NM_001377.3(DYNC2H1):c.7708+20G>T
NM_001377.3(DYNC2H1):c.7709-14A>G
NM_001377.3(DYNC2H1):c.7709-15C>A
NM_001377.3(DYNC2H1):c.7709-9T>C
NM_001377.3(DYNC2H1):c.7709A>G (p.Asp2570Gly)
NM_001377.3(DYNC2H1):c.7725A>G (p.Thr2575=)
NM_001377.3(DYNC2H1):c.7726T>C (p.Trp2576Arg)
NM_001377.3(DYNC2H1):c.772T>G (p.Ser258Ala) rs1858479782
NM_001377.3(DYNC2H1):c.7737G>A (p.Arg2579=)
NM_001377.3(DYNC2H1):c.773C>A (p.Ser258Ter)
NM_001377.3(DYNC2H1):c.7740T>C (p.His2580=)
NM_001377.3(DYNC2H1):c.7741_7744del (p.Asn2581fs)
NM_001377.3(DYNC2H1):c.7764A>C (p.Pro2588=)
NM_001377.3(DYNC2H1):c.7764A>G (p.Pro2588=)
NM_001377.3(DYNC2H1):c.7773A>C (p.Pro2591=)
NM_001377.3(DYNC2H1):c.7773A>G (p.Pro2591=)
NM_001377.3(DYNC2H1):c.7774T>C (p.Leu2592=)
NM_001377.3(DYNC2H1):c.7786G>T (p.Gly2596Ter)
NM_001377.3(DYNC2H1):c.7794A>T (p.Pro2598=) rs781691287
NM_001377.3(DYNC2H1):c.7797T>C (p.Leu2599=)
NM_001377.3(DYNC2H1):c.7806A>G (p.Leu2602=)
NM_001377.3(DYNC2H1):c.7839+19A>G
NM_001377.3(DYNC2H1):c.7839+8A>G
NM_001377.3(DYNC2H1):c.7839+9T>C
NM_001377.3(DYNC2H1):c.7839+9T>G
NM_001377.3(DYNC2H1):c.7839G>C (p.Lys2613Asn) rs1325973305
NM_001377.3(DYNC2H1):c.7840-17T>C
NM_001377.3(DYNC2H1):c.7840-19A>G
NM_001377.3(DYNC2H1):c.7840-20T>C
NM_001377.3(DYNC2H1):c.7840-5A>T
NM_001377.3(DYNC2H1):c.7840-6T>A
NM_001377.3(DYNC2H1):c.7840-6dup rs886047567
NM_001377.3(DYNC2H1):c.7857A>G (p.Gly2619=)
NM_001377.3(DYNC2H1):c.7858C>T (p.Arg2620Ter)
NM_001377.3(DYNC2H1):c.7860A>G (p.Arg2620=)
NM_001377.3(DYNC2H1):c.7866C>T (p.Asn2622=)
NM_001377.3(DYNC2H1):c.7894G>T (p.Glu2632Ter)
NM_001377.3(DYNC2H1):c.7900T>C (p.Leu2634=)
NM_001377.3(DYNC2H1):c.7903G>T (p.Glu2635Ter)
NM_001377.3(DYNC2H1):c.7905G>A (p.Glu2635=)
NM_001377.3(DYNC2H1):c.7909_7910del (p.Met2637fs)
NM_001377.3(DYNC2H1):c.7919T>C (p.Ile2640Thr) rs1265669915
NM_001377.3(DYNC2H1):c.7923T>C (p.Asp2641=)
NM_001377.3(DYNC2H1):c.7923_7926del (p.Asp2641fs)
NM_001377.3(DYNC2H1):c.7932G>C (p.Leu2644=)
NM_001377.3(DYNC2H1):c.7950A>G (p.Ser2650=)
NM_001377.3(DYNC2H1):c.7956A>C (p.Leu2652=)
NM_001377.3(DYNC2H1):c.7983T>A (p.Arg2661=)
NM_001377.3(DYNC2H1):c.8003T>G (p.Val2668Gly) rs764468030
NM_001377.3(DYNC2H1):c.8010C>T (p.His2670=)
NM_001377.3(DYNC2H1):c.8011A>G (p.Met2671Val)
NM_001377.3(DYNC2H1):c.8022G>A (p.Ala2674=)
NM_001377.3(DYNC2H1):c.8031T>C (p.Phe2677=)
NM_001377.3(DYNC2H1):c.8052A>T (p.Gly2684=)
NM_001377.3(DYNC2H1):c.8055T>C (p.Tyr2685=)
NM_001377.3(DYNC2H1):c.8061G>A (p.Leu2687=)
NM_001377.3(DYNC2H1):c.8076T>C (p.Asn2692=)
NM_001377.3(DYNC2H1):c.807T>G (p.Thr269=)
NM_001377.3(DYNC2H1):c.8088+10C>A
NM_001377.3(DYNC2H1):c.8088+11C>A
NM_001377.3(DYNC2H1):c.8089-17A>T
NM_001377.3(DYNC2H1):c.8089-18_8089-17insG
NM_001377.3(DYNC2H1):c.8089-19A>G
NM_001377.3(DYNC2H1):c.8089-20A>G
NM_001377.3(DYNC2H1):c.8089-3C>A rs1229906788
NM_001377.3(DYNC2H1):c.8089-4G>A
NM_001377.3(DYNC2H1):c.8091G>C (p.Val2697=)
NM_001377.3(DYNC2H1):c.8106A>T (p.Gly2702=)
NM_001377.3(DYNC2H1):c.8107A>T (p.Ile2703Phe) rs751064079
NM_001377.3(DYNC2H1):c.8113G>C (p.Ala2705Pro)
NM_001377.3(DYNC2H1):c.8128T>C (p.Leu2710=)
NM_001377.3(DYNC2H1):c.813C>T (p.Asn271=)
NM_001377.3(DYNC2H1):c.8145_8146delinsAT (p.Tyr2715_Gln2716delinsTer) rs1565390180
NM_001377.3(DYNC2H1):c.8163A>G (p.Thr2721=)
NM_001377.3(DYNC2H1):c.8167T>C (p.Leu2723=)
NM_001377.3(DYNC2H1):c.816G>T (p.Leu272=)
NM_001377.3(DYNC2H1):c.8178C>T (p.Ile2726=)
NM_001377.3(DYNC2H1):c.8187T>G (p.Leu2729=)
NM_001377.3(DYNC2H1):c.8190G>A (p.Leu2730=)
NM_001377.3(DYNC2H1):c.8197+10C>G
NM_001377.3(DYNC2H1):c.8197+15T>G
NM_001377.3(DYNC2H1):c.8198-10T>C rs778867019
NM_001377.3(DYNC2H1):c.8198-13T>C
NM_001377.3(DYNC2H1):c.8198-16T>C
NM_001377.3(DYNC2H1):c.8198-3T>C
NM_001377.3(DYNC2H1):c.8198-4G>A
NM_001377.3(DYNC2H1):c.8217T>C (p.Tyr2739=)
NM_001377.3(DYNC2H1):c.8225A>G (p.Glu2742Gly) rs989892852
NM_001377.3(DYNC2H1):c.8227G>T (p.Glu2743Ter)
NM_001377.3(DYNC2H1):c.8229A>G (p.Glu2743=)
NM_001377.3(DYNC2H1):c.8243T>C (p.Leu2748Pro)
NM_001377.3(DYNC2H1):c.8250A>T (p.Pro2750=)
NM_001377.3(DYNC2H1):c.8268A>G (p.Ser2756=)
NM_001377.3(DYNC2H1):c.8280T>C (p.Phe2760=)
NM_001377.3(DYNC2H1):c.8309A>G (p.Tyr2770Cys)
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter) rs1437320571
NM_001377.3(DYNC2H1):c.8311+13G>C
NM_001377.3(DYNC2H1):c.8311+15A>G
NM_001377.3(DYNC2H1):c.8311+1G>A rs1555068270
NM_001377.3(DYNC2H1):c.8311+20T>C
NM_001377.3(DYNC2H1):c.8311+7G>A
NM_001377.3(DYNC2H1):c.8311+7G>C
NM_001377.3(DYNC2H1):c.8311+8A>G
NM_001377.3(DYNC2H1):c.8311+9C>T
NM_001377.3(DYNC2H1):c.8312-16C>A
NM_001377.3(DYNC2H1):c.8312-18T>C
NM_001377.3(DYNC2H1):c.8312-19A>C
NM_001377.3(DYNC2H1):c.8312-19A>G
NM_001377.3(DYNC2H1):c.8312-9A>G
NM_001377.3(DYNC2H1):c.8351C>T (p.Ser2784Phe) rs886047568
NM_001377.3(DYNC2H1):c.8352T>A (p.Ser2784=)
NM_001377.3(DYNC2H1):c.8352T>C (p.Ser2784=)
NM_001377.3(DYNC2H1):c.8354C>A (p.Ala2785Glu)
NM_001377.3(DYNC2H1):c.8364C>T (p.Asn2788=)
NM_001377.3(DYNC2H1):c.8371A>G (p.Ile2791Val)
NM_001377.3(DYNC2H1):c.8373A>T (p.Ile2791=)
NM_001377.3(DYNC2H1):c.8400T>C (p.His2800=)
NM_001377.3(DYNC2H1):c.8434del (p.Ser2812fs) rs1555068636
NM_001377.3(DYNC2H1):c.8444G>A (p.Ser2815Asn) rs1565394254
NM_001377.3(DYNC2H1):c.8454+11C>T
NM_001377.3(DYNC2H1):c.8455-18A>G
NM_001377.3(DYNC2H1):c.8455-19T>C
NM_001377.3(DYNC2H1):c.8481A>T (p.Thr2827=)
NM_001377.3(DYNC2H1):c.8490A>C (p.Gly2830=)
NM_001377.3(DYNC2H1):c.8499C>T (p.Tyr2833=)
NM_001377.3(DYNC2H1):c.8504A>T (p.Asp2835Val) rs540042560
NM_001377.3(DYNC2H1):c.8505T>C (p.Asp2835=)
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.8539+20A>T
NM_001377.3(DYNC2H1):c.8539+8T>C
NM_001377.3(DYNC2H1):c.8539+9T>C
NM_001377.3(DYNC2H1):c.8540-12A>G
NM_001377.3(DYNC2H1):c.8540-14C>T
NM_001377.3(DYNC2H1):c.8540-4C>G
NM_001377.3(DYNC2H1):c.8540-4C>T
NM_001377.3(DYNC2H1):c.8540-4del rs1229021642
NM_001377.3(DYNC2H1):c.8540-5del
NM_001377.3(DYNC2H1):c.8540-5dup
NM_001377.3(DYNC2H1):c.8550T>G (p.Asp2850Glu) rs1863164629
NM_001377.3(DYNC2H1):c.8557A>T (p.Lys2853Ter)
NM_001377.3(DYNC2H1):c.8559A>G (p.Lys2853=)
NM_001377.3(DYNC2H1):c.8562A>G (p.Ser2854=)
NM_001377.3(DYNC2H1):c.8580A>T (p.Glu2860Asp)
NM_001377.3(DYNC2H1):c.8590del (p.Ala2864fs) rs1555070451
NM_001377.3(DYNC2H1):c.8593T>C (p.Tyr2865His)
NM_001377.3(DYNC2H1):c.8611C>T (p.Arg2871Ter)
NM_001377.3(DYNC2H1):c.8616C>T (p.Tyr2872=)
NM_001377.3(DYNC2H1):c.8622C>A (p.Thr2874=)
NM_001377.3(DYNC2H1):c.8668T>C (p.Leu2890=)
NM_001377.3(DYNC2H1):c.8669T>A (p.Leu2890Ter)
NM_001377.3(DYNC2H1):c.8673A>G (p.Leu2891=)
NM_001377.3(DYNC2H1):c.8674A>C (p.Lys2892Gln)
NM_001377.3(DYNC2H1):c.8688T>C (p.His2896=)
NM_001377.3(DYNC2H1):c.8694+12G>T
NM_001377.3(DYNC2H1):c.8694+15del
NM_001377.3(DYNC2H1):c.8694+19T>C
NM_001377.3(DYNC2H1):c.8694+20G>T
NM_001377.3(DYNC2H1):c.8695-10A>G
NM_001377.3(DYNC2H1):c.8695-15A>G
NM_001377.3(DYNC2H1):c.8695-15del
NM_001377.3(DYNC2H1):c.8695-5T>C
NM_001377.3(DYNC2H1):c.8695-6A>G
NM_001377.3(DYNC2H1):c.8697T>G (p.Ala2899=)
NM_001377.3(DYNC2H1):c.870T>C (p.Ile290=)
NM_001377.3(DYNC2H1):c.8710C>T (p.Leu2904=)
NM_001377.3(DYNC2H1):c.8726C>T (p.Ala2909Val)
NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro) rs1555071484
NM_001377.3(DYNC2H1):c.8745C>T (p.Asn2915=)
NM_001377.3(DYNC2H1):c.8748A>G (p.Arg2916=)
NM_001377.3(DYNC2H1):c.8769_8770del (p.Leu2924fs) rs1555071503
NM_001377.3(DYNC2H1):c.8772A>G (p.Leu2924=)
NM_001377.3(DYNC2H1):c.8773C>T (p.Leu2925Phe)
NM_001377.3(DYNC2H1):c.8781G>A (p.Thr2927=)
NM_001377.3(DYNC2H1):c.8787A>G (p.Gln2929=)
NM_001377.3(DYNC2H1):c.8796A>C (p.Ala2932=)
NM_001377.3(DYNC2H1):c.879G>A (p.Gln293=)
NM_001377.3(DYNC2H1):c.8805C>A (p.Ala2935=)
NM_001377.3(DYNC2H1):c.8811A>G (p.Gln2937=)
NM_001377.3(DYNC2H1):c.8820A>G (p.Thr2940=)
NM_001377.3(DYNC2H1):c.8822T>G (p.Val2941Gly) rs923392944
NM_001377.3(DYNC2H1):c.8826A>G (p.Ser2942=)
NM_001377.3(DYNC2H1):c.8832+10A>G
NM_001377.3(DYNC2H1):c.8832+17C>T
NM_001377.3(DYNC2H1):c.8832+18C>G
NM_001377.3(DYNC2H1):c.8833-10A>G
NM_001377.3(DYNC2H1):c.8833-13A>C
NM_001377.3(DYNC2H1):c.8833-18A>G
NM_001377.3(DYNC2H1):c.8833-20C>G rs2135147432
NM_001377.3(DYNC2H1):c.8834A>T (p.Asp2945Val) rs2135147476
NM_001377.3(DYNC2H1):c.8844G>A (p.Glu2948=)
NM_001377.3(DYNC2H1):c.8874C>T (p.His2958=)
NM_001377.3(DYNC2H1):c.8886A>G (p.Glu2962=)
NM_001377.3(DYNC2H1):c.8909_8910del (p.Arg2970fs)
NM_001377.3(DYNC2H1):c.8946+17T>C
NM_001377.3(DYNC2H1):c.8946+17T>G
NM_001377.3(DYNC2H1):c.8947-15C>T
NM_001377.3(DYNC2H1):c.8947-17G>A
NM_001377.3(DYNC2H1):c.8947-17G>T
NM_001377.3(DYNC2H1):c.8947-2A>G
NM_001377.3(DYNC2H1):c.8947-4T>C
NM_001377.3(DYNC2H1):c.8947-9C>A
NM_001377.3(DYNC2H1):c.8968C>T (p.Leu2990=)
NM_001377.3(DYNC2H1):c.8991C>G (p.Pro2997=)
NM_001377.3(DYNC2H1):c.8997A>G (p.Ser2999=)
NM_001377.3(DYNC2H1):c.9010C>T (p.Arg3004Cys)
NM_001377.3(DYNC2H1):c.9016C>T (p.Leu3006=)
NM_001377.3(DYNC2H1):c.9019C>T (p.Arg3007Cys)
NM_001377.3(DYNC2H1):c.9033T>C (p.Asp3011=)
NM_001377.3(DYNC2H1):c.9045T>C (p.Asp3015=)
NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu) rs794727767
NM_001377.3(DYNC2H1):c.9051T>C (p.Leu3017=)
NM_001377.3(DYNC2H1):c.905C>T (p.Thr302Ile) rs1858489010
NM_001377.3(DYNC2H1):c.9066G>A (p.Arg3022=)
NM_001377.3(DYNC2H1):c.9078C>T (p.Ile3026=)
NM_001377.3(DYNC2H1):c.909T>A (p.Gly303=)
NM_001377.3(DYNC2H1):c.9107+15T>C
NM_001377.3(DYNC2H1):c.9107+19G>A
NM_001377.3(DYNC2H1):c.9139A>G (p.Ile3047Val) rs2135153656
NM_001377.3(DYNC2H1):c.9147C>T (p.Thr3049=)
NM_001377.3(DYNC2H1):c.9167C>G (p.Ser3056Ter)
NM_001377.3(DYNC2H1):c.9168A>C (p.Ser3056=)
NM_001377.3(DYNC2H1):c.9171G>A (p.Lys3057=)
NM_001377.3(DYNC2H1):c.9186T>C (p.Ser3062=)
NM_001377.3(DYNC2H1):c.9187G>A (p.Val3063Ile)
NM_001377.3(DYNC2H1):c.9192A>G (p.Glu3064=)
NM_001377.3(DYNC2H1):c.9213A>G (p.Lys3071=)
NM_001377.3(DYNC2H1):c.922C>T (p.Arg308Cys)
NM_001377.3(DYNC2H1):c.9231+11A>G
NM_001377.3(DYNC2H1):c.9231+15A>G
NM_001377.3(DYNC2H1):c.9231+16T>C
NM_001377.3(DYNC2H1):c.9231+17A>G
NM_001377.3(DYNC2H1):c.9231+20A>G
NM_001377.3(DYNC2H1):c.9231+9del
NM_001377.3(DYNC2H1):c.9232-13A>G
NM_001377.3(DYNC2H1):c.9232-16C>T
NM_001377.3(DYNC2H1):c.9240G>A (p.Lys3080=)
NM_001377.3(DYNC2H1):c.9264T>G (p.Pro3088=)
NM_001377.3(DYNC2H1):c.9273C>T (p.Ala3091=)
NM_001377.3(DYNC2H1):c.9279G>A (p.Val3093=)
NM_001377.3(DYNC2H1):c.9280A>C (p.Lys3094Gln)
NM_001377.3(DYNC2H1):c.9283G>A (p.Ala3095Thr)
NM_001377.3(DYNC2H1):c.9292C>T (p.Gln3098Ter)
NM_001377.3(DYNC2H1):c.9303T>C (p.His3101=)
NM_001377.3(DYNC2H1):c.9307T>C (p.Leu3103=)
NM_001377.3(DYNC2H1):c.930T>C (p.Val310=)
NM_001377.3(DYNC2H1):c.9310G>T (p.Glu3104Ter)
NM_001377.3(DYNC2H1):c.9324T>G (p.Pro3108=)
NM_001377.3(DYNC2H1):c.9339G>A (p.Gln3113=)
NM_001377.3(DYNC2H1):c.933T>G (p.Pro311=)
NM_001377.3(DYNC2H1):c.9345A>T (p.Gly3115=)
NM_001377.3(DYNC2H1):c.9353+12A>G
NM_001377.3(DYNC2H1):c.9354-4T>G
NM_001377.3(DYNC2H1):c.9354-7A>G
NM_001377.3(DYNC2H1):c.936T>C (p.His312=)
NM_001377.3(DYNC2H1):c.9378A>G (p.Arg3126=)
NM_001377.3(DYNC2H1):c.9380A>G (p.Lys3127Arg)
NM_001377.3(DYNC2H1):c.9382del (p.Arg3128fs)
NM_001377.3(DYNC2H1):c.9387A>G (p.Lys3129=)
NM_001377.3(DYNC2H1):c.938C>G (p.Pro313Arg)
NM_001377.3(DYNC2H1):c.9393G>A (p.Glu3131=)
NM_001377.3(DYNC2H1):c.9409G>T (p.Val3137Phe)
NM_001377.3(DYNC2H1):c.940T>C (p.Trp314Arg)
NM_001377.3(DYNC2H1):c.9421del (p.Val3141fs)
NM_001377.3(DYNC2H1):c.9436_9439del (p.Glu3146fs)
NM_001377.3(DYNC2H1):c.9440+10A>G
NM_001377.3(DYNC2H1):c.9440+13T>A
NM_001377.3(DYNC2H1):c.9440+9T>A
NM_001377.3(DYNC2H1):c.9441-17T>C
NM_001377.3(DYNC2H1):c.9441-5C>T
NM_001377.3(DYNC2H1):c.9465T>G (p.Ala3155=)
NM_001377.3(DYNC2H1):c.9468C>A (p.Ala3156=)
NM_001377.3(DYNC2H1):c.9493del (p.Ala3165fs)
NM_001377.3(DYNC2H1):c.9495A>G (p.Ala3165=)
NM_001377.3(DYNC2H1):c.951A>G (p.Glu317=)
NM_001377.3(DYNC2H1):c.9526A>G (p.Ile3176Val)
NM_001377.3(DYNC2H1):c.9534G>A (p.Gln3178=)
NM_001377.3(DYNC2H1):c.954A>C (p.Lys318Asn)
NM_001377.3(DYNC2H1):c.9552G>A (p.Lys3184=)
NM_001377.3(DYNC2H1):c.9564A>G (p.Ala3188=)
NM_001377.3(DYNC2H1):c.9564A>T (p.Ala3188=)
NM_001377.3(DYNC2H1):c.9567+13G>C
NM_001377.3(DYNC2H1):c.9567+18G>A
NM_001377.3(DYNC2H1):c.9567+20C>T
NM_001377.3(DYNC2H1):c.9568-11C>T
NM_001377.3(DYNC2H1):c.9568-14T>C
NM_001377.3(DYNC2H1):c.9568-15C>T
NM_001377.3(DYNC2H1):c.9568-16T>C
NM_001377.3(DYNC2H1):c.9568-17C>T
NM_001377.3(DYNC2H1):c.9568-18TC[2]
NM_001377.3(DYNC2H1):c.9568-4C>G
NM_001377.3(DYNC2H1):c.9568-6T>G
NM_001377.3(DYNC2H1):c.9595A>G (p.Thr3199Ala)
NM_001377.3(DYNC2H1):c.9600T>C (p.Leu3200=)
NM_001377.3(DYNC2H1):c.9624T>C (p.Ala3208=)
NM_001377.3(DYNC2H1):c.962C>G (p.Pro321Arg)
NM_001377.3(DYNC2H1):c.9636A>G (p.Thr3212=)
NM_001377.3(DYNC2H1):c.963A>T (p.Pro321=) rs771975812
NM_001377.3(DYNC2H1):c.9640C>A (p.Leu3214Ile)
NM_001377.3(DYNC2H1):c.9650C>T (p.Ala3217Val)
NM_001377.3(DYNC2H1):c.9681A>G (p.Glu3227=)
NM_001377.3(DYNC2H1):c.9690C>G (p.Thr3230=)
NM_001377.3(DYNC2H1):c.9702T>C (p.Gly3234=)
NM_001377.3(DYNC2H1):c.9709+9T>C
NM_001377.3(DYNC2H1):c.9710-12T>C
NM_001377.3(DYNC2H1):c.9710-19A>G
NM_001377.3(DYNC2H1):c.9738T>C (p.Thr3246=)
NM_001377.3(DYNC2H1):c.9747G>A (p.Glu3249=)
NM_001377.3(DYNC2H1):c.9753A>G (p.Leu3251=)
NM_001377.3(DYNC2H1):c.9760_9764del (p.Trp3253_Lys3254insTer) rs1218198013
NM_001377.3(DYNC2H1):c.9762A>G (p.Lys3254=)
NM_001377.3(DYNC2H1):c.9777A>G (p.Pro3259=)
NM_001377.3(DYNC2H1):c.9801T>C (p.Asn3267=)
NM_001377.3(DYNC2H1):c.9819+13_9819+17del
NM_001377.3(DYNC2H1):c.9819+18A>G
NM_001377.3(DYNC2H1):c.9819+18A>T
NM_001377.3(DYNC2H1):c.9819+19T>A
NM_001377.3(DYNC2H1):c.9819+20T>C
NM_001377.3(DYNC2H1):c.9819+25del rs748459541
NM_001377.3(DYNC2H1):c.9819+25dup rs748459541
NM_001377.3(DYNC2H1):c.9820-2129A>T
NM_001377.3(DYNC2H1):c.9820-2134T>G
NM_001377.3(DYNC2H1):c.9820-2138C>G
NM_001377.3(DYNC2H1):c.9820-2170T>C
NM_001377.3(DYNC2H1):c.9820-2174T>G
NM_001377.3(DYNC2H1):c.9820-2175C>T
NM_001377.3(DYNC2H1):c.9820-2179T>G
NM_001377.3(DYNC2H1):c.9820-5A>T
NM_001377.3(DYNC2H1):c.9820-7A>G
NM_001377.3(DYNC2H1):c.9820-7dup
NM_001377.3(DYNC2H1):c.9820-8del
NM_001377.3(DYNC2H1):c.9823C>T (p.Arg3275Ter) rs2135225617
NM_001377.3(DYNC2H1):c.9845A>C (p.Asp3282Ala)
NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=) rs886047572
NM_001377.3(DYNC2H1):c.9864A>G (p.Thr3288=)
NM_001377.3(DYNC2H1):c.9867G>A (p.Glu3289=)
NM_001377.3(DYNC2H1):c.9870G>A (p.Trp3290Ter)
NM_001377.3(DYNC2H1):c.987A>G (p.Lys329=)
NM_001377.3(DYNC2H1):c.9882_9894del (p.Leu3295fs)
NM_001377.3(DYNC2H1):c.9888A>G (p.Lys3296=)
NM_001377.3(DYNC2H1):c.9893C>A (p.Ser3298Ter)
NM_001377.3(DYNC2H1):c.989G>A (p.Arg330His)
NM_001377.3(DYNC2H1):c.989G>T (p.Arg330Leu)
NM_001377.3(DYNC2H1):c.9905T>C (p.Val3302Ala) rs1365232282
NM_001377.3(DYNC2H1):c.9912T>C (p.Asn3304=)
NM_001377.3(DYNC2H1):c.9915G>A (p.Gln3305=)
NM_001377.3(DYNC2H1):c.9918+10_9918+12del
NM_001377.3(DYNC2H1):c.9918+1G>T rs772732648
NM_001377.3(DYNC2H1):c.9918+3A>G
NM_001377.3(DYNC2H1):c.9918+7A>G
NM_001377.3(DYNC2H1):c.9919-10A>G
NM_001377.3(DYNC2H1):c.9919-11dup
NM_001377.3(DYNC2H1):c.9919-12T>C
NM_001377.3(DYNC2H1):c.9919-17del
NM_001377.3(DYNC2H1):c.9919-18T>C
NM_001377.3(DYNC2H1):c.9919-2A>C
NM_001377.3(DYNC2H1):c.9919-2A>T
NM_001377.3(DYNC2H1):c.9919-5A>T
NM_001377.3(DYNC2H1):c.9919-7C>T
NM_001377.3(DYNC2H1):c.9933C>T (p.Ile3311=)
NM_001377.3(DYNC2H1):c.993T>A (p.Leu331=)
NM_001377.3(DYNC2H1):c.993T>G (p.Leu331=)
NM_001377.3(DYNC2H1):c.9942T>C (p.Leu3314=)
NM_001377.3(DYNC2H1):c.9948A>C (p.Leu3316Phe)
NM_001377.3(DYNC2H1):c.9956del (p.Arg3319fs)
NM_001377.3(DYNC2H1):c.9957T>A (p.Arg3319=)
NM_001377.3(DYNC2H1):c.9963G>A (p.Gly3321=)
NM_001377.3(DYNC2H1):c.9978A>C (p.Ile3326=)
NM_001377.3(DYNC2H1):c.9978A>T (p.Ile3326=)
NM_001377.3(DYNC2H1):c.9983A>C (p.Glu3328Ala) rs1864571633
NM_001377.3(DYNC2H1):c.999+12A>T
NM_001377.3(DYNC2H1):c.999+19A>C
NM_001377.3(DYNC2H1):c.999+1G>A
NM_001377.3(DYNC2H1):c.999+8T>C
NM_001377.3(DYNC2H1):c.9992del (p.Gly3331fs)
NM_001619.5(GRK2):c.1348_1349del (p.Ser450fs) rs2136504839
NM_001619.5(GRK2):c.469C>T (p.Leu157Phe) rs2136500272
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_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_015681.6(B9D1):c.467G>C (p.Arg156Pro) rs886038205
NM_020779.4(WDR35):c.2489A>T (p.Asp830Val) rs1553316926
NM_020800.2(IFT80):c.-321A>G rs886058137
NM_020800.3(IFT80):c.*1210TA[8] rs150435844
NM_020800.3(IFT80):c.-31G>A rs886058135
NM_020800.3(IFT80):c.1001G>A (p.Arg334His)
NM_020800.3(IFT80):c.1009G>A (p.Val337Ile) rs1226978230
NM_020800.3(IFT80):c.1028A>T (p.Asn343Ile)
NM_020800.3(IFT80):c.1030T>C (p.Tyr344His) rs2108277043
NM_020800.3(IFT80):c.1038C>T (p.His346=)
NM_020800.3(IFT80):c.1060C>A (p.Gln354Lys)
NM_020800.3(IFT80):c.1066del (p.Tyr356fs) rs1386720978
NM_020800.3(IFT80):c.1068C>T (p.Tyr356=)
NM_020800.3(IFT80):c.1076+1G>A
NM_020800.3(IFT80):c.1076+6C>A rs1478232526
NM_020800.3(IFT80):c.1080G>A (p.Thr360=)
NM_020800.3(IFT80):c.1086C>T (p.Asn362=)
NM_020800.3(IFT80):c.1094C>T (p.Thr365Ile) rs2108271630
NM_020800.3(IFT80):c.1102A>G (p.Ile368Val)
NM_020800.3(IFT80):c.1104A>G (p.Ile368Met) rs369114064
NM_020800.3(IFT80):c.1115A>G (p.Lys372Arg) rs2108271596
NM_020800.3(IFT80):c.1126G>A (p.Val376Ile) rs753617262
NM_020800.3(IFT80):c.1129A>G (p.Ser377Gly)
NM_020800.3(IFT80):c.1140G>T (p.Leu380=)
NM_020800.3(IFT80):c.1150A>G (p.Arg384Gly)
NM_020800.3(IFT80):c.1152-13C>A
NM_020800.3(IFT80):c.1152-1G>C rs777519235
NM_020800.3(IFT80):c.1152-7T>G
NM_020800.3(IFT80):c.1167A>G (p.Val389=) rs2108267310
NM_020800.3(IFT80):c.1187del (p.Leu396fs) rs1716383227
NM_020800.3(IFT80):c.118T>A (p.Trp40Arg)
NM_020800.3(IFT80):c.1198G>A (p.Glu400Lys)
NM_020800.3(IFT80):c.1200A>G (p.Glu400=) rs2108267274
NM_020800.3(IFT80):c.1208T>G (p.Phe403Cys) rs142536602
NM_020800.3(IFT80):c.120G>A (p.Trp40Ter)
NM_020800.3(IFT80):c.1215A>C (p.Ser405=)
NM_020800.3(IFT80):c.1222A>G (p.Lys408Glu) rs776006563
NM_020800.3(IFT80):c.1224A>G (p.Lys408=) rs2108267227
NM_020800.3(IFT80):c.1229C>A (p.Pro410His) rs148396265
NM_020800.3(IFT80):c.1229C>G (p.Pro410Arg)
NM_020800.3(IFT80):c.1281T>C (p.Asp427=) rs1716376329
NM_020800.3(IFT80):c.1283C>A (p.Thr428Asn) rs770394750
NM_020800.3(IFT80):c.1285A>G (p.Ile429Val)
NM_020800.3(IFT80):c.1286T>C (p.Ile429Thr) rs2108267139
NM_020800.3(IFT80):c.1287A>G (p.Ile429Met)
NM_020800.3(IFT80):c.1288G>A (p.Ala430Thr) rs1716375276
NM_020800.3(IFT80):c.128T>G (p.Leu43Ter)
NM_020800.3(IFT80):c.1291A>G (p.Ile431Val)
NM_020800.3(IFT80):c.1295G>C (p.Arg432Thr) rs1716374436
NM_020800.3(IFT80):c.1297G>A (p.Asp433Asn) rs527756323
NM_020800.3(IFT80):c.12G>A (p.Lys4=)
NM_020800.3(IFT80):c.1315+10_1315+17dup
NM_020800.3(IFT80):c.1315+14T>C
NM_020800.3(IFT80):c.1315+17A>G rs971761468
NM_020800.3(IFT80):c.1319T>C (p.Ile440Thr)
NM_020800.3(IFT80):c.131C>A (p.Thr44Asn) rs1712527833
NM_020800.3(IFT80):c.1320C>T (p.Ile440=) rs746090893
NM_020800.3(IFT80):c.1324C>T (p.Leu442Phe) rs2108240755
NM_020800.3(IFT80):c.1339A>G (p.Thr447Ala) rs1715048069
NM_020800.3(IFT80):c.1343G>T (p.Gly448Val) rs1715047540
NM_020800.3(IFT80):c.1350G>C (p.Pro450=) rs201146135
NM_020800.3(IFT80):c.1354G>A (p.Gly452Ser) rs1424771271
NM_020800.3(IFT80):c.135T>G (p.Ser45Arg) rs762238566
NM_020800.3(IFT80):c.1380+10A>G rs1256481351
NM_020800.3(IFT80):c.1380+12T>A
NM_020800.3(IFT80):c.1380+15C>T
NM_020800.3(IFT80):c.1380+2del rs2108240653
NM_020800.3(IFT80):c.1381-14dup rs762163693
NM_020800.3(IFT80):c.1381-20A>C
NM_020800.3(IFT80):c.1381-9A>C
NM_020800.3(IFT80):c.1388del (p.Ile463fs) rs2108234807
NM_020800.3(IFT80):c.1389_1397del (p.Leu464_Ile466del) rs752515612
NM_020800.3(IFT80):c.1405G>T (p.Asp469Tyr) rs1210834952
NM_020800.3(IFT80):c.141A>G (p.Thr47=)
NM_020800.3(IFT80):c.1420A>G (p.Thr474Ala) rs750126857
NM_020800.3(IFT80):c.142A>G (p.Thr48Ala) rs2108404384
NM_020800.3(IFT80):c.1436T>A (p.Ile479Asn) rs1714767611
NM_020800.3(IFT80):c.1452A>T (p.Lys484Asn) rs1714765993
NM_020800.3(IFT80):c.1468A>G (p.Ile490Val) rs1559917807
NM_020800.3(IFT80):c.1473T>C (p.Thr491=)
NM_020800.3(IFT80):c.1483C>T (p.Arg495Ter)
NM_020800.3(IFT80):c.1484G>A (p.Arg495Gln)
NM_020800.3(IFT80):c.1486T>C (p.Phe496Leu)
NM_020800.3(IFT80):c.1495G>A (p.Glu499Lys) rs555093543
NM_020800.3(IFT80):c.1507A>G (p.Ile503Val)
NM_020800.3(IFT80):c.1512G>T (p.Lys504Asn) rs772287249
NM_020800.3(IFT80):c.1516+18C>T rs1714757221
NM_020800.3(IFT80):c.1516+2T>C
NM_020800.3(IFT80):c.1517-10T>C
NM_020800.3(IFT80):c.1517-11T>C
NM_020800.3(IFT80):c.1517-9_1517-7del rs2108231566
NM_020800.3(IFT80):c.1520C>T (p.Thr507Ile) rs2108231550
NM_020800.3(IFT80):c.1525G>A (p.Val509Met) rs758912357
NM_020800.3(IFT80):c.1525G>T (p.Val509Leu) rs758912357
NM_020800.3(IFT80):c.1549A>G (p.Thr517Ala)
NM_020800.3(IFT80):c.1550C>T (p.Thr517Ile) rs1408265295
NM_020800.3(IFT80):c.1556A>G (p.Asn519Ser) rs1714628390
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe) rs1553753582
NM_020800.3(IFT80):c.156G>C (p.Lys52Asn)
NM_020800.3(IFT80):c.1583G>A (p.Arg528Gln)
NM_020800.3(IFT80):c.1624A>G (p.Arg542Gly)
NM_020800.3(IFT80):c.1625G>A (p.Arg542Lys) rs1027265275
NM_020800.3(IFT80):c.1635G>A (p.Leu545=)
NM_020800.3(IFT80):c.1655G>C (p.Arg552Thr)
NM_020800.3(IFT80):c.1664+1G>A
NM_020800.3(IFT80):c.1665-11T>C rs2108229213
NM_020800.3(IFT80):c.1665-12T>A rs908547988
NM_020800.3(IFT80):c.1665-7del rs769406658
NM_020800.3(IFT80):c.1665-7dup rs769406658
NM_020800.3(IFT80):c.1689T>A (p.Ile563=)
NM_020800.3(IFT80):c.1694G>A (p.Ser565Asn) rs1714507782
NM_020800.3(IFT80):c.1717A>G (p.Ile573Val) rs371520687
NM_020800.3(IFT80):c.1726G>A (p.Ala576Thr) rs1714506395
NM_020800.3(IFT80):c.1738C>T (p.Leu580=) rs750185428
NM_020800.3(IFT80):c.1753A>T (p.Ile585Leu) rs864622337
NM_020800.3(IFT80):c.1755A>C (p.Ile585=)
NM_020800.3(IFT80):c.1761A>G (p.Pro587=)
NM_020800.3(IFT80):c.1775T>C (p.Leu592Pro) rs2108229016
NM_020800.3(IFT80):c.1777C>T (p.His593Tyr)
NM_020800.3(IFT80):c.1797A>G (p.Ser599=) rs2108228989
NM_020800.3(IFT80):c.1815G>A (p.Val605=)
NM_020800.3(IFT80):c.1818A>G (p.Arg606=)
NM_020800.3(IFT80):c.1836+20C>T
NM_020800.3(IFT80):c.1836+8A>G
NM_020800.3(IFT80):c.1836G>A (p.Lys612=) rs758317567
NM_020800.3(IFT80):c.1837-13T>C
NM_020800.3(IFT80):c.1837-3T>C rs1714373421
NM_020800.3(IFT80):c.1837-6_1837-2del rs780412409
NM_020800.3(IFT80):c.1837G>A (p.Glu613Lys)
NM_020800.3(IFT80):c.1845C>T (p.Thr615=)
NM_020800.3(IFT80):c.1847T>C (p.Met616Thr)
NM_020800.3(IFT80):c.1866dup (p.Met623fs)
NM_020800.3(IFT80):c.1868T>C (p.Met623Thr) rs1441644666
NM_020800.3(IFT80):c.1891A>G (p.Thr631Ala)
NM_020800.3(IFT80):c.189C>T (p.His63=)
NM_020800.3(IFT80):c.1907C>T (p.Ala636Val)
NM_020800.3(IFT80):c.1913C>G (p.Ala638Gly) rs751685555
NM_020800.3(IFT80):c.1918A>G (p.Ile640Val)
NM_020800.3(IFT80):c.1922G>C (p.Gly641Ala) rs758343586
NM_020800.3(IFT80):c.1926+11A>G rs531201934
NM_020800.3(IFT80):c.1926+11A>T
NM_020800.3(IFT80):c.1926+13_1926+14inv
NM_020800.3(IFT80):c.1926+9T>G
NM_020800.3(IFT80):c.1936G>A (p.Val646Ile)
NM_020800.3(IFT80):c.1936G>C (p.Val646Leu) rs752617502
NM_020800.3(IFT80):c.1936G>T (p.Val646Phe) rs752617502
NM_020800.3(IFT80):c.1949A>G (p.Asn650Ser)
NM_020800.3(IFT80):c.1954A>T (p.Ile652Leu)
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.1993A>G (p.Ile665Val)
NM_020800.3(IFT80):c.2020G>A (p.Glu674Lys)
NM_020800.3(IFT80):c.2025T>G (p.Ala675=)
NM_020800.3(IFT80):c.2028A>C (p.Glu676Asp) rs1714347314
NM_020800.3(IFT80):c.2033T>G (p.Val678Gly) rs762893736
NM_020800.3(IFT80):c.2040T>A (p.Leu680=) rs2108225990
NM_020800.3(IFT80):c.2043G>A (p.Gln681=)
NM_020800.3(IFT80):c.2050C>T (p.Leu684Phe)
NM_020800.3(IFT80):c.2061A>G (p.Gln687=)
NM_020800.3(IFT80):c.206T>G (p.Leu69Trp) rs2108404301
NM_020800.3(IFT80):c.2073C>A (p.Ile691=) rs1441275758
NM_020800.3(IFT80):c.207G>A (p.Leu69=) rs2108404298
NM_020800.3(IFT80):c.2083C>G (p.Leu695Val)
NM_020800.3(IFT80):c.2085C>A (p.Leu695=)
NM_020800.3(IFT80):c.2085del (p.Tyr696fs)
NM_020800.3(IFT80):c.2086T>C (p.Tyr696His)
NM_020800.3(IFT80):c.2094G>A (p.Trp698Ter)
NM_020800.3(IFT80):c.2094G>C (p.Trp698Cys) rs1273119646
NM_020800.3(IFT80):c.2099+19A>C rs539564457
NM_020800.3(IFT80):c.2099G>A (p.Arg700Lys)
NM_020800.3(IFT80):c.2100-13T>C
NM_020800.3(IFT80):c.2100-17T>C
NM_020800.3(IFT80):c.2103A>G (p.Ala701=)
NM_020800.3(IFT80):c.2119A>T (p.Lys707Ter)
NM_020800.3(IFT80):c.2124C>G (p.Tyr708Ter)
NM_020800.3(IFT80):c.2132A>G (p.His711Arg)
NM_020800.3(IFT80):c.2138A>G (p.Asp713Gly) rs1713528985
NM_020800.3(IFT80):c.2174C>T (p.Thr725Ile) rs997566753
NM_020800.3(IFT80):c.2215G>A (p.Ala739Thr) rs2108209837
NM_020800.3(IFT80):c.2223+11C>G
NM_020800.3(IFT80):c.2223+15A>G
NM_020800.3(IFT80):c.2223+20G>A rs115849906
NM_020800.3(IFT80):c.2223+4_2223+7del rs751433239
NM_020800.3(IFT80):c.2224-10del rs58665245
NM_020800.3(IFT80):c.2224-10dup rs58665245
NM_020800.3(IFT80):c.2224-13_2224-10del rs58665245
NM_020800.3(IFT80):c.2224-18T>C rs1300785034
NM_020800.3(IFT80):c.2224-19_2224-18dup rs58665245
NM_020800.3(IFT80):c.2224-20_2224-17del
NM_020800.3(IFT80):c.2224-20dup rs397969922
NM_020800.3(IFT80):c.2224-7A>G
NM_020800.3(IFT80):c.2229A>G (p.Gln743=)
NM_020800.3(IFT80):c.2244A>G (p.Lys748=) rs769905264
NM_020800.3(IFT80):c.225_226insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACAAACC (p.Gln76fs) rs2108404264
NM_020800.3(IFT80):c.2282G>C (p.Arg761Thr) rs112640410
NM_020800.3(IFT80):c.2292A>G (p.Ser764=) rs376683399
NM_020800.3(IFT80):c.2302C>T (p.Gln768Ter) rs778690591
NM_020800.3(IFT80):c.230C>A (p.Ala77Glu) rs866504439
NM_020800.3(IFT80):c.2318T>C (p.Ile773Thr)
NM_020800.3(IFT80):c.2322T>C (p.Gly774=)
NM_020800.3(IFT80):c.2329C>T (p.Pro777Ser)
NM_020800.3(IFT80):c.239_250delinsGGGTTT (p.Phe80_Ser84delinsTrpValCys) rs1712517309
NM_020800.3(IFT80):c.24A>G (p.Leu8=)
NM_020800.3(IFT80):c.259+16_259+18del rs2108404186
NM_020800.3(IFT80):c.260-14G>A
NM_020800.3(IFT80):c.260-4T>G
NM_020800.3(IFT80):c.260-8T>G
NM_020800.3(IFT80):c.266T>C (p.Phe89Ser) rs965701938
NM_020800.3(IFT80):c.282G>A (p.Lys94=) rs548358266
NM_020800.3(IFT80):c.28G>T (p.Glu10Ter)
NM_020800.3(IFT80):c.301A>G (p.Ser101Gly)
NM_020800.3(IFT80):c.304G>A (p.Val102Ile)
NM_020800.3(IFT80):c.317G>C (p.Cys106Ser)
NM_020800.3(IFT80):c.331G>A (p.Ala111Thr) rs1712114570
NM_020800.3(IFT80):c.332C>T (p.Ala111Val) rs557375681
NM_020800.3(IFT80):c.335G>A (p.Gly112Glu) rs1712113940
NM_020800.3(IFT80):c.351A>G (p.Glu117=) rs2108396942
NM_020800.3(IFT80):c.360A>G (p.Ala120=) rs2108396922
NM_020800.3(IFT80):c.37+15C>T rs1483835849
NM_020800.3(IFT80):c.37+16T>A
NM_020800.3(IFT80):c.37+6C>A rs865963221
NM_020800.3(IFT80):c.370+20G>A
NM_020800.3(IFT80):c.371-11del rs34613811
NM_020800.3(IFT80):c.371-11dup
NM_020800.3(IFT80):c.379G>T (p.Asp127Tyr) rs1711973722
NM_020800.3(IFT80):c.37C>G (p.His13Asp)
NM_020800.3(IFT80):c.38-17C>T
NM_020800.3(IFT80):c.38-9dup
NM_020800.3(IFT80):c.387A>G (p.Gln129=)
NM_020800.3(IFT80):c.396T>C (p.Ile132=)
NM_020800.3(IFT80):c.403A>C (p.Lys135Gln)
NM_020800.3(IFT80):c.411dup (p.Met138fs) rs778324141
NM_020800.3(IFT80):c.437A>G (p.Gln146Arg) rs2108394316
NM_020800.3(IFT80):c.439+12A>C
NM_020800.3(IFT80):c.439+14T>C
NM_020800.3(IFT80):c.440-17C>A
NM_020800.3(IFT80):c.440-18T>A
NM_020800.3(IFT80):c.440-18T>C
NM_020800.3(IFT80):c.440-18del rs199675485
NM_020800.3(IFT80):c.440-22_440-18del
NM_020800.3(IFT80):c.440-27dup rs199675485
NM_020800.3(IFT80):c.440-2A>G rs1721846338
NM_020800.3(IFT80):c.440-4A>G
NM_020800.3(IFT80):c.447A>G (p.Pro149=) rs2108377944
NM_020800.3(IFT80):c.448G>C (p.Val150Leu) rs1721845305
NM_020800.3(IFT80):c.462G>C (p.Ala154=) rs34182424
NM_020800.3(IFT80):c.464G>A (p.Trp155Ter)
NM_020800.3(IFT80):c.469C>A (p.Pro157Thr) rs1721843816
NM_020800.3(IFT80):c.483G>A (p.Lys161=) rs886058133
NM_020800.3(IFT80):c.48A>T (p.Leu16Phe) rs2108404512
NM_020800.3(IFT80):c.514A>G (p.Ile172Val) rs2108377832
NM_020800.3(IFT80):c.515T>A (p.Ile172Asn) rs1215757424
NM_020800.3(IFT80):c.546G>A (p.Leu182=) rs543233802
NM_020800.3(IFT80):c.548A>T (p.Gln183Leu)
NM_020800.3(IFT80):c.549+7C>G
NM_020800.3(IFT80):c.550-14_550-12del
NM_020800.3(IFT80):c.550-18del
NM_020800.3(IFT80):c.550-4A>T rs769891425
NM_020800.3(IFT80):c.551G>A (p.Trp184Ter) rs1182330004
NM_020800.3(IFT80):c.559C>T (p.His187Tyr)
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn) rs372576954
NM_020800.3(IFT80):c.593C>T (p.Ser198Leu)
NM_020800.3(IFT80):c.601G>T (p.Asp201Tyr)
NM_020800.3(IFT80):c.60G>T (p.Val20=) rs201088893
NM_020800.3(IFT80):c.612A>T (p.Leu204Phe) rs1359553849
NM_020800.3(IFT80):c.625G>T (p.Asp209Tyr) rs2108362446
NM_020800.3(IFT80):c.627C>A (p.Asp209Glu)
NM_020800.3(IFT80):c.629_630del (p.Asp209_Cys210insTer) rs1307708371
NM_020800.3(IFT80):c.639+10G>A rs1027164775
NM_020800.3(IFT80):c.639+18T>C
NM_020800.3(IFT80):c.639+1del rs2108362424
NM_020800.3(IFT80):c.639+9T>A
NM_020800.3(IFT80):c.639+9T>C rs968428120
NM_020800.3(IFT80):c.640-11T>C
NM_020800.3(IFT80):c.640-3T>G rs1270725764
NM_020800.3(IFT80):c.640G>A (p.Val214Ile) rs1026071746
NM_020800.3(IFT80):c.64T>C (p.Trp22Arg) rs140499147
NM_020800.3(IFT80):c.650G>A (p.Ser217Asn)
NM_020800.3(IFT80):c.654C>T (p.Tyr218=)
NM_020800.3(IFT80):c.657C>T (p.Gly219=) rs1195919168
NM_020800.3(IFT80):c.663A>G (p.Pro221=)
NM_020800.3(IFT80):c.686A>C (p.Glu229Ala) rs1305518301
NM_020800.3(IFT80):c.698C>A (p.Thr233Asn) rs1242544327
NM_020800.3(IFT80):c.701C>G (p.Ser234Ter)
NM_020800.3(IFT80):c.710G>A (p.Trp237Ter) rs201858128
NM_020800.3(IFT80):c.719A>C (p.Asp240Ala)
NM_020800.3(IFT80):c.727T>C (p.Leu243=) rs2108360164
NM_020800.3(IFT80):c.736G>C (p.Val246Leu)
NM_020800.3(IFT80):c.743C>G (p.Ser248Trp) rs754764834
NM_020800.3(IFT80):c.744G>A (p.Ser248=) rs779731718
NM_020800.3(IFT80):c.744G>T (p.Ser248=)
NM_020800.3(IFT80):c.748C>T (p.His250Tyr) rs1721060438
NM_020800.3(IFT80):c.749A>T (p.His250Leu)
NM_020800.3(IFT80):c.751A>T (p.Thr251Ser) rs2108360118
NM_020800.3(IFT80):c.759C>T (p.Arg253=) rs2108360089
NM_020800.3(IFT80):c.760T>G (p.Leu254Val)
NM_020800.3(IFT80):c.763T>C (p.Cys255Arg) rs2108360083
NM_020800.3(IFT80):c.764G>T (p.Cys255Phe) rs1325257224
NM_020800.3(IFT80):c.769A>G (p.Lys257Glu) rs1273801158
NM_020800.3(IFT80):c.777+16G>A rs1462707815
NM_020800.3(IFT80):c.777+19C>T
NM_020800.3(IFT80):c.777+5G>A rs2108360069
NM_020800.3(IFT80):c.778-16G>T
NM_020800.3(IFT80):c.778-17T>G
NM_020800.3(IFT80):c.778-4C>T rs760577994
NM_020800.3(IFT80):c.778-7C>T rs1269497069
NM_020800.3(IFT80):c.810C>A (p.Gly270=) rs752091335
NM_020800.3(IFT80):c.824T>C (p.Ile275Thr)
NM_020800.3(IFT80):c.825T>G (p.Ile275Met)
NM_020800.3(IFT80):c.847C>T (p.Gln283Ter)
NM_020800.3(IFT80):c.855T>C (p.Ala285=)
NM_020800.3(IFT80):c.869dup (p.Asn290fs) rs773858865
NM_020800.3(IFT80):c.873A>G (p.Gly291=)
NM_020800.3(IFT80):c.895G>A (p.Val299Met) rs1718074496
NM_020800.3(IFT80):c.896T>C (p.Val299Ala)
NM_020800.3(IFT80):c.898_899del (p.Glu300fs) rs1450731316
NM_020800.3(IFT80):c.92G>A (p.Cys31Tyr) rs2108404468
NM_020800.3(IFT80):c.930A>G (p.Val310=)
NM_020800.3(IFT80):c.949G>A (p.Ala317Thr)
NM_020800.3(IFT80):c.950C>A (p.Ala317Asp) rs1718070568
NM_020800.3(IFT80):c.951C>T (p.Ala317=)
NM_020800.3(IFT80):c.951del (p.Met318fs)
NM_020800.3(IFT80):c.952A>T (p.Met318Leu) rs1718070417
NM_020800.3(IFT80):c.956A>G (p.Gln319Arg) rs1718070086
NM_020800.3(IFT80):c.957+17A>T
NM_020800.3(IFT80):c.957+1G>A
NM_020800.3(IFT80):c.957+20T>C
NM_020800.3(IFT80):c.957+8T>C
NM_020800.3(IFT80):c.958-15T>C
NM_020800.3(IFT80):c.958-1G>T rs202051267
NM_020800.3(IFT80):c.958-8T>A
NM_020800.3(IFT80):c.958-8T>C rs752430715
NM_020800.3(IFT80):c.962G>A (p.Arg321His) rs766354291
NM_020800.3(IFT80):c.972_973insNNNNNNNNTTTTTTTT (p.Asn325delinsXaaXaaXaaPhePheTer) rs2108277143
NM_020800.3(IFT80):c.999C>T (p.Phe333=) rs765112290
NM_024753.4(TTC21B):c.-75A>C rs886055032
NM_024753.4(TTC21B):c.-82C>G rs543599575
NM_024753.5(TTC21B):c.*1123dup rs886055020
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys) rs886055028
NM_024755.4(SLTM):c.2600C>A (p.Pro867His) rs1401798992
NM_025103.4(IFT74):c.-19-2025_120+884delinsTTA
NM_025132.3(WDR19):c.-59dup rs558898928
NM_025132.4(WDR19):c.*293_*296dup rs374474677
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_025132.4(WDR19):c.974T>C (p.Leu325Ser) rs1193255568
NM_031934.6(RAB34):c.254T>C (p.Ile85Thr)
NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)
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

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