ClinVar Miner

List of variants in gene DYNC2I1 studied for Short-rib thoracic dysplasia 8 with or without polydactyly

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 372
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HGVS dbSNP gnomAD frequency
NM_018051.5(DYNC2I1):c.675C>G (p.Asn225Lys) rs2709859 0.99194
NM_018051.5(DYNC2I1):c.2547-22_2547-21insC rs34181207 0.85394
NM_018051.5(DYNC2I1):c.2073A>G (p.Lys691=) rs2730238 0.85247
NM_018051.5(DYNC2I1):c.2372-9C>T rs2244789 0.76494
NM_018051.5(DYNC2I1):c.2778+36T>A rs2657331 0.48169
NM_018051.5(DYNC2I1):c.818A>G (p.Gln273Arg) rs2788478 0.43909
NM_018051.5(DYNC2I1):c.2094+24A>G rs6459913 0.35665
NM_018051.5(DYNC2I1):c.1921+24A>G rs10279428 0.18135
NM_018051.5(DYNC2I1):c.2976C>T (p.Val992=) rs34634437 0.16768
NM_018051.5(DYNC2I1):c.1137+23T>C rs842703 0.14437
NM_018051.5(DYNC2I1):c.490G>A (p.Val164Ile) rs78313003 0.06387
NM_018051.5(DYNC2I1):c.2385G>A (p.Leu795=) rs61747095 0.03840
NM_018051.5(DYNC2I1):c.2371+4C>T rs2286113 0.02993
NM_018051.5(DYNC2I1):c.2395A>G (p.Ile799Val) rs61733022 0.02653
NM_018051.5(DYNC2I1):c.1800C>T (p.Ala600=) rs41271220 0.01447
NM_018051.5(DYNC2I1):c.1791+5A>G rs41271217 0.01256
NM_018051.5(DYNC2I1):c.604C>G (p.Leu202Val) rs73527702 0.00999
NM_018051.5(DYNC2I1):c.941C>T (p.Ala314Val) rs139730326 0.00984
NM_018051.5(DYNC2I1):c.2418G>T (p.Gly806=) rs11505215 0.00726
NM_018051.5(DYNC2I1):c.1685G>A (p.Ser562Asn) rs143753088 0.00545
NM_018051.5(DYNC2I1):c.2354C>T (p.Pro785Leu) rs61733021 0.00358
NM_018051.5(DYNC2I1):c.1040C>T (p.Pro347Leu) rs73529717 0.00295
NM_018051.5(DYNC2I1):c.1791+19T>C rs199724771 0.00284
NM_018051.5(DYNC2I1):c.2768C>A (p.Pro923Gln) rs73167274 0.00265
NM_018051.5(DYNC2I1):c.1465C>G (p.Arg489Gly) rs116193143 0.00213
NM_018051.5(DYNC2I1):c.2210C>T (p.Thr737Met) rs138296655 0.00209
NM_018051.5(DYNC2I1):c.1922-16T>C rs141233540 0.00189
NM_018051.5(DYNC2I1):c.1370C>A (p.Ser457Tyr) rs144444098 0.00182
NM_018051.5(DYNC2I1):c.1778G>A (p.Arg593Gln) rs58538724 0.00165
NM_018051.5(DYNC2I1):c.2397C>T (p.Ile799=) rs116197118 0.00152
NM_018051.5(DYNC2I1):c.2826G>C (p.Ala942=) rs140787294 0.00146
NM_018051.5(DYNC2I1):c.2793C>T (p.Asp931=) rs199624775 0.00123
NM_018051.5(DYNC2I1):c.1883G>A (p.Ser628Asn) rs149660873 0.00118
NM_018051.5(DYNC2I1):c.2351C>T (p.Ser784Leu) rs151184533 0.00110
NM_018051.5(DYNC2I1):c.1048G>A (p.Glu350Lys) rs200061970 0.00098
NM_018051.5(DYNC2I1):c.176A>G (p.Asp59Gly) rs187908946 0.00098
NM_018051.5(DYNC2I1):c.714G>T (p.Glu238Asp) rs150548113 0.00098
NM_018051.5(DYNC2I1):c.357G>A (p.Lys119=) rs557538074 0.00073
NM_018051.5(DYNC2I1):c.1460+16A>T rs189495408 0.00066
NM_018051.5(DYNC2I1):c.3081T>C (p.Ser1027=) rs182098988 0.00056
NM_018051.5(DYNC2I1):c.519T>C (p.Asp173=) rs76115834 0.00056
NM_018051.5(DYNC2I1):c.785A>G (p.Lys262Arg) rs138438967 0.00054
NM_018051.5(DYNC2I1):c.2433+15A>G rs367950915 0.00052
NM_018051.5(DYNC2I1):c.134C>T (p.Ser45Phe) rs201226440 0.00044
NM_018051.5(DYNC2I1):c.451C>T (p.Arg151Trp) rs75914977 0.00042
NM_018051.5(DYNC2I1):c.2398G>A (p.Ala800Thr) rs115070314 0.00041
NM_018051.5(DYNC2I1):c.2985G>A (p.Gln995=) rs534300999 0.00039
NM_018051.5(DYNC2I1):c.324T>C (p.His108=) rs191864940 0.00028
NM_018051.5(DYNC2I1):c.2538G>C (p.Leu846Phe) rs201839458 0.00026
NM_018051.5(DYNC2I1):c.3118G>A (p.Ala1040Thr) rs539815300 0.00023
NM_018051.5(DYNC2I1):c.407A>C (p.Gln136Pro) rs781030406 0.00023
NM_018051.5(DYNC2I1):c.1826C>T (p.Ala609Val) rs192753686 0.00021
NM_018051.5(DYNC2I1):c.2151G>A (p.Ala717=) rs375125159 0.00020
NM_018051.5(DYNC2I1):c.1726G>A (p.Asp576Asn) rs201190743 0.00019
NM_018051.5(DYNC2I1):c.69G>A (p.Trp23Ter) rs202111347 0.00019
NM_018051.5(DYNC2I1):c.1676C>T (p.Pro559Leu) rs187658316 0.00018
NM_018051.5(DYNC2I1):c.1315C>G (p.Gln439Glu) rs372622058 0.00016
NM_018051.5(DYNC2I1):c.2670A>G (p.Arg890=) rs373640802 0.00016
NM_018051.5(DYNC2I1):c.1573A>G (p.Lys525Glu) rs777679941 0.00015
NM_018051.5(DYNC2I1):c.1922-19A>G rs374835240 0.00015
NM_018051.5(DYNC2I1):c.2540G>A (p.Gly847Asp) rs372734939 0.00014
NM_018051.5(DYNC2I1):c.1041G>A (p.Pro347=) rs202014035 0.00013
NM_018051.5(DYNC2I1):c.1461-14A>C rs780344639 0.00011
NM_018051.5(DYNC2I1):c.1654A>G (p.Arg552Gly) rs771427947 0.00011
NM_018051.5(DYNC2I1):c.2825C>T (p.Ala942Val) rs371334329 0.00011
NM_018051.5(DYNC2I1):c.3112C>T (p.Arg1038Trp) rs758415572 0.00011
NM_018051.5(DYNC2I1):c.389G>A (p.Arg130Gln) rs374765133 0.00011
NM_018051.5(DYNC2I1):c.990+3A>T rs374608321 0.00011
NM_018051.5(DYNC2I1):c.1977C>T (p.Ser659=) rs371944841 0.00010
NM_018051.5(DYNC2I1):c.1032C>A (p.Asp344Glu) rs140137568 0.00009
NM_018051.5(DYNC2I1):c.213C>T (p.Ala71=) rs573392724 0.00009
NM_018051.5(DYNC2I1):c.2779-6T>G rs190324060 0.00009
NM_018051.5(DYNC2I1):c.2905G>A (p.Val969Met) rs377727599 0.00009
NM_018051.5(DYNC2I1):c.3045T>C (p.Gly1015=) rs377462355 0.00009
NM_018051.5(DYNC2I1):c.732A>G (p.Lys244=) rs369650727 0.00008
NM_018051.5(DYNC2I1):c.2245A>T (p.Thr749Ser) rs755638947 0.00007
NM_018051.5(DYNC2I1):c.879+14T>C rs374526880 0.00007
NM_018051.5(DYNC2I1):c.1326T>C (p.Gly442=) rs532519011 0.00006
NM_018051.5(DYNC2I1):c.2257+10A>G rs747339634 0.00006
NM_018051.5(DYNC2I1):c.2372-3C>T rs373063403 0.00006
NM_018051.5(DYNC2I1):c.985C>T (p.Arg329Trp) rs201649000 0.00006
NM_018051.5(DYNC2I1):c.2029G>A (p.Val677Ile) rs767670522 0.00005
NM_018051.5(DYNC2I1):c.2154C>T (p.His718=) rs368500706 0.00005
NM_018051.5(DYNC2I1):c.2317A>G (p.Thr773Ala) rs770249657 0.00005
NM_018051.5(DYNC2I1):c.582C>T (p.Tyr194=) rs368847195 0.00005
NM_018051.5(DYNC2I1):c.731A>G (p.Lys244Arg) rs755850270 0.00005
NM_018051.5(DYNC2I1):c.1017G>A (p.Val339=) rs1006424601 0.00004
NM_018051.5(DYNC2I1):c.1293C>T (p.Gly431=) rs369015842 0.00004
NM_018051.5(DYNC2I1):c.1609G>A (p.Glu537Lys) rs537240153 0.00004
NM_018051.5(DYNC2I1):c.2205T>C (p.Ser735=) rs201245664 0.00004
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571 0.00004
NM_018051.5(DYNC2I1):c.2433+19C>T rs759925860 0.00004
NM_018051.5(DYNC2I1):c.2464G>A (p.Ala822Thr) rs566913816 0.00004
NM_018051.5(DYNC2I1):c.2485+5C>A rs771294563 0.00004
NM_018051.5(DYNC2I1):c.2512C>G (p.Leu838Val) rs770020503 0.00004
NM_018051.5(DYNC2I1):c.2767C>T (p.Pro923Ser) rs770977639 0.00004
NM_018051.5(DYNC2I1):c.2904C>T (p.Ala968=) rs374305328 0.00004
NM_018051.5(DYNC2I1):c.876C>T (p.Ser292=) rs757328480 0.00004
NM_018051.5(DYNC2I1):c.986G>A (p.Arg329Gln) rs777602096 0.00004
NM_018051.5(DYNC2I1):c.1057G>A (p.Val353Met) rs201238212 0.00003
NM_018051.5(DYNC2I1):c.105G>A (p.Lys35=) rs748373806 0.00003
NM_018051.5(DYNC2I1):c.1438C>T (p.Arg480Trp) rs370385731 0.00003
NM_018051.5(DYNC2I1):c.1484G>A (p.Arg495Gln) rs772956452 0.00003
NM_018051.5(DYNC2I1):c.16-6A>G rs543244299 0.00003
NM_018051.5(DYNC2I1):c.2167G>A (p.Val723Ile) rs111510513 0.00003
NM_018051.5(DYNC2I1):c.445C>T (p.Arg149Cys) rs545206396 0.00003
NM_018051.5(DYNC2I1):c.49G>A (p.Asp17Asn) rs374477653 0.00003
NM_018051.5(DYNC2I1):c.825C>T (p.Asn275=) rs370119780 0.00003
NM_018051.5(DYNC2I1):c.1357+13A>G rs752245321 0.00002
NM_018051.5(DYNC2I1):c.1792-7C>A rs548044469 0.00002
NM_018051.5(DYNC2I1):c.2246C>T (p.Thr749Met) rs587777065 0.00002
NM_018051.5(DYNC2I1):c.2660A>G (p.His887Arg) rs746483898 0.00002
NM_018051.5(DYNC2I1):c.2933A>G (p.Asn978Ser) rs780146826 0.00002
NM_018051.5(DYNC2I1):c.490+8C>G rs1045646527 0.00002
NM_018051.5(DYNC2I1):c.573+6C>T rs913915593 0.00002
NM_018051.5(DYNC2I1):c.846G>T (p.Ser282=) rs1294563167 0.00002
NM_018051.5(DYNC2I1):c.104A>G (p.Lys35Arg) rs774295782 0.00001
NM_018051.5(DYNC2I1):c.1059+14G>A rs112908949 0.00001
NM_018051.5(DYNC2I1):c.1113A>G (p.Thr371=) rs1353546702 0.00001
NM_018051.5(DYNC2I1):c.1139A>G (p.Asp380Gly) rs767594582 0.00001
NM_018051.5(DYNC2I1):c.1194A>G (p.Glu398=) rs753716236 0.00001
NM_018051.5(DYNC2I1):c.1228C>G (p.Leu410Val) rs866385885 0.00001
NM_018051.5(DYNC2I1):c.1287G>A (p.Arg429=) rs375910832 0.00001
NM_018051.5(DYNC2I1):c.1321C>T (p.Arg441Ter) rs766663693 0.00001
NM_018051.5(DYNC2I1):c.1461-13A>G rs749505270 0.00001
NM_018051.5(DYNC2I1):c.1628A>G (p.Asp543Gly) rs1585131344 0.00001
NM_018051.5(DYNC2I1):c.1642G>A (p.Glu548Lys) rs761082389 0.00001
NM_018051.5(DYNC2I1):c.1703-13del rs558243779 0.00001
NM_018051.5(DYNC2I1):c.1882A>G (p.Ser628Gly) rs759364238 0.00001
NM_018051.5(DYNC2I1):c.1924C>T (p.Arg642Ter) rs752109819 0.00001
NM_018051.5(DYNC2I1):c.1983C>T (p.His661=) rs570560884 0.00001
NM_018051.5(DYNC2I1):c.1993G>A (p.Glu665Lys) rs764530886 0.00001
NM_018051.5(DYNC2I1):c.2121G>T (p.Leu707Phe) rs766537162 0.00001
NM_018051.5(DYNC2I1):c.2247G>A (p.Thr749=) rs779502233 0.00001
NM_018051.5(DYNC2I1):c.2257+15C>T rs993369163 0.00001
NM_018051.5(DYNC2I1):c.2349T>C (p.Leu783=) rs1159300009 0.00001
NM_018051.5(DYNC2I1):c.2388C>A (p.Ser796=) rs758510154 0.00001
NM_018051.5(DYNC2I1):c.2781C>T (p.Ala927=) rs748457877 0.00001
NM_018051.5(DYNC2I1):c.2822C>T (p.Ser941Phe) rs1585253516 0.00001
NM_018051.5(DYNC2I1):c.2823C>T (p.Ser941=) rs762674535 0.00001
NM_018051.5(DYNC2I1):c.2841del (p.Gln947fs) rs748645101 0.00001
NM_018051.5(DYNC2I1):c.3077C>T (p.Ala1026Val) rs370850399 0.00001
NM_018051.5(DYNC2I1):c.3169G>A (p.Ala1057Thr) rs1162389472 0.00001
NM_018051.5(DYNC2I1):c.436C>A (p.Gln146Lys) rs1251160543 0.00001
NM_018051.5(DYNC2I1):c.574-10T>A rs188181596 0.00001
NM_018051.5(DYNC2I1):c.609G>A (p.Lys203=) rs760059618 0.00001
NM_018051.5(DYNC2I1):c.633C>T (p.Gly211=) rs375240436 0.00001
NM_018051.5(DYNC2I1):c.678A>G (p.Lys226=) rs759760480 0.00001
NM_018051.5(DYNC2I1):c.682C>T (p.Arg228Ter) rs752596216 0.00001
NM_018051.5(DYNC2I1):c.751A>C (p.Lys251Gln) rs1200188970 0.00001
NM_018051.5(DYNC2I1):c.880-17A>G rs753464984 0.00001
NM_018051.5(DYNC2I1):c.936-19G>A rs752292407 0.00001
NC_000007.13:g.(?_158649427)_(158738470_?)dup
NC_000007.13:g.(?_158662526)_(158727260_?)dup
NC_000007.13:g.(?_158662526)_(158738470_?)dup
NC_000007.13:g.(?_158672355)_(158672700_?)del
NC_000007.13:g.(?_158677235)_(158677330_?)del
NC_000007.13:g.(?_158711411)_(158738470_?)dup
NC_000007.13:g.(?_158734596)_(158738470_?)dup
NC_000007.14:g.(?_158926167)_(158927063_?)del
NM_018051.5(DYNC2I1):c.1000G>A (p.Glu334Lys)
NM_018051.5(DYNC2I1):c.1003G>A (p.Glu335Lys)
NM_018051.5(DYNC2I1):c.1026G>C (p.Lys342Asn)
NM_018051.5(DYNC2I1):c.1059+17T>G
NM_018051.5(DYNC2I1):c.1059+18T>C
NM_018051.5(DYNC2I1):c.1060-18T>C
NM_018051.5(DYNC2I1):c.1084T>G (p.Leu362Val)
NM_018051.5(DYNC2I1):c.1113A>T (p.Thr371=)
NM_018051.5(DYNC2I1):c.1137+9A>G
NM_018051.5(DYNC2I1):c.1162del (p.Cys388fs) rs1554460624
NM_018051.5(DYNC2I1):c.116A>G (p.Lys39Arg) rs528452983
NM_018051.5(DYNC2I1):c.1189A>T (p.Asn397Tyr)
NM_018051.5(DYNC2I1):c.1203A>C (p.Ser401=)
NM_018051.5(DYNC2I1):c.1221A>C (p.Glu407Asp) rs1846346410
NM_018051.5(DYNC2I1):c.1267A>G (p.Ile423Val)
NM_018051.5(DYNC2I1):c.1357+11C>A rs201588197
NM_018051.5(DYNC2I1):c.1358-20T>C
NM_018051.5(DYNC2I1):c.1416A>C (p.Ser472=) rs1425014206
NM_018051.5(DYNC2I1):c.1460+10T>C rs768563970
NM_018051.5(DYNC2I1):c.1483C>T (p.Arg495Trp)
NM_018051.5(DYNC2I1):c.1505C>T (p.Ser502Leu) rs776188298
NM_018051.5(DYNC2I1):c.1519C>G (p.Leu507Val) rs529737662
NM_018051.5(DYNC2I1):c.1584C>G (p.Thr528=)
NM_018051.5(DYNC2I1):c.1590+11G>A
NM_018051.5(DYNC2I1):c.1591-9G>T
NM_018051.5(DYNC2I1):c.1593A>G (p.Ala531=) rs2129484908
NM_018051.5(DYNC2I1):c.16-13C>T rs2129477304
NM_018051.5(DYNC2I1):c.1600C>G (p.Gln534Glu)
NM_018051.5(DYNC2I1):c.1604G>A (p.Cys535Tyr) rs2129484911
NM_018051.5(DYNC2I1):c.1605T>C (p.Cys535=)
NM_018051.5(DYNC2I1):c.1614T>C (p.Asp538=)
NM_018051.5(DYNC2I1):c.162G>C (p.Glu54Asp)
NM_018051.5(DYNC2I1):c.1633C>G (p.Gln545Glu)
NM_018051.5(DYNC2I1):c.1637C>T (p.Thr546Met) rs1847645148
NM_018051.5(DYNC2I1):c.1638G>A (p.Thr546=)
NM_018051.5(DYNC2I1):c.1656G>A (p.Arg552=)
NM_018051.5(DYNC2I1):c.1680A>G (p.Gly560=)
NM_018051.5(DYNC2I1):c.1702+13T>C
NM_018051.5(DYNC2I1):c.1702+14C>G
NM_018051.5(DYNC2I1):c.1703-11G>T rs1349093711
NM_018051.5(DYNC2I1):c.1703-3T>A rs587777066
NM_018051.5(DYNC2I1):c.1703G>A (p.Gly568Asp)
NM_018051.5(DYNC2I1):c.1718A>G (p.Asp573Gly)
NM_018051.5(DYNC2I1):c.1721C>T (p.Thr574Ile) rs374402136
NM_018051.5(DYNC2I1):c.1744A>G (p.Lys582Glu)
NM_018051.5(DYNC2I1):c.1755T>C (p.Thr585=) rs372205758
NM_018051.5(DYNC2I1):c.1776G>A (p.Leu592=)
NM_018051.5(DYNC2I1):c.1791+16A>G
NM_018051.5(DYNC2I1):c.1792-19A>T
NM_018051.5(DYNC2I1):c.180C>G (p.Pro60=) rs754304837
NM_018051.5(DYNC2I1):c.180C>T (p.Pro60=)
NM_018051.5(DYNC2I1):c.1839C>T (p.Ser613=) rs1848734445
NM_018051.5(DYNC2I1):c.1848T>C (p.Leu616=)
NM_018051.5(DYNC2I1):c.1891C>T (p.Gln631Ter) rs587777064
NM_018051.5(DYNC2I1):c.1902C>T (p.Thr634=)
NM_018051.5(DYNC2I1):c.1911A>G (p.Pro637=)
NM_018051.5(DYNC2I1):c.1911A>T (p.Pro637=)
NM_018051.5(DYNC2I1):c.1916T>C (p.Leu639Pro) rs761412635
NM_018051.5(DYNC2I1):c.1921+18A>C
NM_018051.5(DYNC2I1):c.1921+8G>T
NM_018051.5(DYNC2I1):c.1922-4del rs113911955
NM_018051.5(DYNC2I1):c.1934CCT[1] (p.Ser646del) rs774798770
NM_018051.5(DYNC2I1):c.1962G>A (p.Arg654=)
NM_018051.5(DYNC2I1):c.1992C>T (p.Pro664=)
NM_018051.5(DYNC2I1):c.2024A>C (p.Lys675Thr)
NM_018051.5(DYNC2I1):c.2061A>G (p.Ser687=)
NM_018051.5(DYNC2I1):c.2091C>T (p.Ser697=)
NM_018051.5(DYNC2I1):c.2094+12G>C
NM_018051.5(DYNC2I1):c.2095-7C>T
NM_018051.5(DYNC2I1):c.2099C>T (p.Thr700Met)
NM_018051.5(DYNC2I1):c.2134C>G (p.Leu712Val)
NM_018051.5(DYNC2I1):c.2135T>C (p.Leu712Pro) rs2129486673
NM_018051.5(DYNC2I1):c.2139T>C (p.Phe713=)
NM_018051.5(DYNC2I1):c.2142C>T (p.Ala714=)
NM_018051.5(DYNC2I1):c.2143G>A (p.Gly715Arg)
NM_018051.5(DYNC2I1):c.2146A>T (p.Thr716Ser)
NM_018051.5(DYNC2I1):c.2153A>G (p.His718Arg) rs1400146732
NM_018051.5(DYNC2I1):c.2172G>C (p.Trp724Cys) rs1459822084
NM_018051.5(DYNC2I1):c.2211G>A (p.Thr737=)
NM_018051.5(DYNC2I1):c.2217C>T (p.Ser739=)
NM_018051.5(DYNC2I1):c.2232G>A (p.Thr744=)
NM_018051.5(DYNC2I1):c.2232G>T (p.Thr744=) rs751401798
NM_018051.5(DYNC2I1):c.2236C>T (p.Arg746Trp)
NM_018051.5(DYNC2I1):c.2241C>T (p.Thr747=)
NM_018051.5(DYNC2I1):c.2247G>C (p.Thr749=)
NM_018051.5(DYNC2I1):c.2256C>T (p.Thr752=)
NM_018051.5(DYNC2I1):c.2257+5del rs1849333929
NM_018051.5(DYNC2I1):c.2257G>A (p.Asp753Asn)
NM_018051.5(DYNC2I1):c.225C>T (p.Thr75=)
NM_018051.5(DYNC2I1):c.2279A>C (p.Asn760Thr)
NM_018051.5(DYNC2I1):c.2310T>A (p.Pro770=)
NM_018051.5(DYNC2I1):c.2318C>T (p.Thr773Met)
NM_018051.5(DYNC2I1):c.2334G>A (p.Lys778=)
NM_018051.5(DYNC2I1):c.2347C>T (p.Leu783Phe)
NM_018051.5(DYNC2I1):c.2371+16C>T
NM_018051.5(DYNC2I1):c.2372-21_2372-18del
NM_018051.5(DYNC2I1):c.2378dup (p.Gly794fs)
NM_018051.5(DYNC2I1):c.2427T>C (p.Asn809=)
NM_018051.5(DYNC2I1):c.2433+20G>A
NM_018051.5(DYNC2I1):c.2433+7_2433+10dup
NM_018051.5(DYNC2I1):c.2434-11del
NM_018051.5(DYNC2I1):c.2434-19T>C
NM_018051.5(DYNC2I1):c.2439T>G (p.Val813=)
NM_018051.5(DYNC2I1):c.2450C>T (p.Pro817Leu)
NM_018051.5(DYNC2I1):c.2457A>G (p.Ala819=)
NM_018051.5(DYNC2I1):c.2461A>G (p.Ile821Val)
NM_018051.5(DYNC2I1):c.2485+16A>G
NM_018051.5(DYNC2I1):c.2486-4T>G
NM_018051.5(DYNC2I1):c.2547-10_2547-6del rs1850505967
NM_018051.5(DYNC2I1):c.2568A>G (p.Glu856=)
NM_018051.5(DYNC2I1):c.2583A>G (p.Thr861=)
NM_018051.5(DYNC2I1):c.2637C>T (p.Gly879=)
NM_018051.5(DYNC2I1):c.2638A>G (p.Thr880Ala) rs1850519978
NM_018051.5(DYNC2I1):c.2646+9T>C
NM_018051.5(DYNC2I1):c.2647-8C>T
NM_018051.5(DYNC2I1):c.2653A>G (p.Ile885Val)
NM_018051.5(DYNC2I1):c.2656A>G (p.Ser886Gly)
NM_018051.5(DYNC2I1):c.2663G>A (p.Gly888Asp) rs1850547827
NM_018051.5(DYNC2I1):c.2666C>T (p.Thr889Ile)
NM_018051.5(DYNC2I1):c.2694A>G (p.Lys898=) rs2129487917
NM_018051.5(DYNC2I1):c.2695C>T (p.Leu899=)
NM_018051.5(DYNC2I1):c.2719A>G (p.Ile907Val)
NM_018051.5(DYNC2I1):c.2726C>T (p.Pro909Leu)
NM_018051.5(DYNC2I1):c.2771T>C (p.Ile924Thr)
NM_018051.5(DYNC2I1):c.2778+17_2778+18del
NM_018051.5(DYNC2I1):c.2779-5C>T
NM_018051.5(DYNC2I1):c.2790G>A (p.Ser930=)
NM_018051.5(DYNC2I1):c.2856G>A (p.Thr952=)
NM_018051.5(DYNC2I1):c.2868G>A (p.Ala956=)
NM_018051.5(DYNC2I1):c.2872A>G (p.Thr958Ala)
NM_018051.5(DYNC2I1):c.2874C>T (p.Thr958=)
NM_018051.5(DYNC2I1):c.2885G>T (p.Trp962Leu) rs774062652
NM_018051.5(DYNC2I1):c.2926A>G (p.Thr976Ala) rs1851430228
NM_018051.5(DYNC2I1):c.2937C>T (p.Ile979=)
NM_018051.5(DYNC2I1):c.295C>T (p.Arg99Trp)
NM_018051.5(DYNC2I1):c.2961C>T (p.Ser987=)
NM_018051.5(DYNC2I1):c.296G>C (p.Arg99Pro)
NM_018051.5(DYNC2I1):c.2999A>T (p.Asn1000Ile) rs749324450
NM_018051.5(DYNC2I1):c.3003-13C>T
NM_018051.5(DYNC2I1):c.3006G>A (p.Leu1002=)
NM_018051.5(DYNC2I1):c.300G>A (p.Glu100=)
NM_018051.5(DYNC2I1):c.3019G>A (p.Ala1007Thr)
NM_018051.5(DYNC2I1):c.3020C>T (p.Ala1007Val)
NM_018051.5(DYNC2I1):c.303A>G (p.Lys101=)
NM_018051.5(DYNC2I1):c.3078G>A (p.Ala1026=)
NM_018051.5(DYNC2I1):c.3086C>T (p.Ser1029Phe) rs1331796469
NM_018051.5(DYNC2I1):c.3088A>G (p.Ile1030Val)
NM_018051.5(DYNC2I1):c.3105G>C (p.Leu1035=) rs1585268610
NM_018051.5(DYNC2I1):c.3136G>A (p.Glu1046Lys)
NM_018051.5(DYNC2I1):c.313_315del (p.Lys105del) rs3833679
NM_018051.5(DYNC2I1):c.3147G>A (p.Arg1049=)
NM_018051.5(DYNC2I1):c.3177G>A (p.Trp1059Ter)
NM_018051.5(DYNC2I1):c.3184G>A (p.Gly1062Arg)
NM_018051.5(DYNC2I1):c.351A>G (p.Arg117=)
NM_018051.5(DYNC2I1):c.35C>T (p.Thr12Ile)
NM_018051.5(DYNC2I1):c.378_381del (p.Asp126fs)
NM_018051.5(DYNC2I1):c.411C>G (p.Thr137=)
NM_018051.5(DYNC2I1):c.418C>G (p.His140Asp) rs1315103377
NM_018051.5(DYNC2I1):c.457C>T (p.Leu153Phe)
NM_018051.5(DYNC2I1):c.470C>T (p.Ala157Val)
NM_018051.5(DYNC2I1):c.471G>A (p.Ala157=) rs375082266
NM_018051.5(DYNC2I1):c.471G>C (p.Ala157=) rs375082266
NM_018051.5(DYNC2I1):c.485G>T (p.Arg162Leu)
NM_018051.5(DYNC2I1):c.490+11G>A rs530105342
NM_018051.5(DYNC2I1):c.490+11G>T rs530105342
NM_018051.5(DYNC2I1):c.491-10C>T
NM_018051.5(DYNC2I1):c.491-17T>C
NM_018051.5(DYNC2I1):c.500T>A (p.Val167Glu)
NM_018051.5(DYNC2I1):c.527_528del (p.Asp175_Ser176insTer)
NM_018051.5(DYNC2I1):c.562C>T (p.Arg188Ter) rs750540944
NM_018051.5(DYNC2I1):c.573+14G>A
NM_018051.5(DYNC2I1):c.574-11G>A
NM_018051.5(DYNC2I1):c.574-9G>A
NM_018051.5(DYNC2I1):c.600C>T (p.Asn200=)
NM_018051.5(DYNC2I1):c.606C>G (p.Leu202=)
NM_018051.5(DYNC2I1):c.625G>C (p.Glu209Gln)
NM_018051.5(DYNC2I1):c.629_630delinsGC (p.Glu210Gly)
NM_018051.5(DYNC2I1):c.667C>G (p.Arg223Gly) rs760704544
NM_018051.5(DYNC2I1):c.672C>T (p.Asp224=)
NM_018051.5(DYNC2I1):c.69+15G>A
NM_018051.5(DYNC2I1):c.69+7A>G rs1554441632
NM_018051.5(DYNC2I1):c.691A>C (p.Ser231Arg)
NM_018051.5(DYNC2I1):c.70-20C>A
NM_018051.5(DYNC2I1):c.701G>T (p.Arg234Met)
NM_018051.5(DYNC2I1):c.705A>G (p.Glu235=)
NM_018051.5(DYNC2I1):c.712_715del (p.Glu238fs)
NM_018051.5(DYNC2I1):c.762A>C (p.Glu254Asp)
NM_018051.5(DYNC2I1):c.772_775del (p.Glu258fs) rs1843823774
NM_018051.5(DYNC2I1):c.778C>T (p.Arg260Ter)
NM_018051.5(DYNC2I1):c.785AAG[1] (p.Glu263del)
NM_018051.5(DYNC2I1):c.822C>A (p.Ser274Arg) rs2129478812
NM_018051.5(DYNC2I1):c.829G>T (p.Asp277Tyr) rs2129478814
NM_018051.5(DYNC2I1):c.845C>T (p.Ser282Leu)
NM_018051.5(DYNC2I1):c.868A>G (p.Arg290Gly)
NM_018051.5(DYNC2I1):c.879+10C>G
NM_018051.5(DYNC2I1):c.879+11_879+19del
NM_018051.5(DYNC2I1):c.879+17T>C
NM_018051.5(DYNC2I1):c.879+19C>T
NM_018051.5(DYNC2I1):c.879+20G>A
NM_018051.5(DYNC2I1):c.884G>C (p.Gly295Ala)
NM_018051.5(DYNC2I1):c.884G>T (p.Gly295Val)
NM_018051.5(DYNC2I1):c.898C>T (p.Arg300Ter) rs780061154
NM_018051.5(DYNC2I1):c.899G>T (p.Arg300Leu) rs899172501
NM_018051.5(DYNC2I1):c.900A>G (p.Arg300=)
NM_018051.5(DYNC2I1):c.902G>T (p.Gly301Val) rs140596100
NM_018051.5(DYNC2I1):c.923G>T (p.Gly308Val)
NM_018051.5(DYNC2I1):c.925A>T (p.Thr309Ser)
NM_018051.5(DYNC2I1):c.936-16T>G
NM_018051.5(DYNC2I1):c.955A>G (p.Arg319Gly)
NM_018051.5(DYNC2I1):c.975dup (p.Asp326fs) rs1844679510
NM_018051.5(DYNC2I1):c.990+15A>G
NM_018051.5(DYNC2I1):c.991-13C>A rs2129482378

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