ClinVar Miner

List of variants in gene CDK5RAP2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 660
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HGVS dbSNP gnomAD frequency
NM_018249.6(CDK5RAP2):c.-3G>T rs932975 0.97921
NM_018249.6(CDK5RAP2):c.306+251G>A rs10732388 0.97745
NM_018249.6(CDK5RAP2):c.3149-266A>G rs4837770 0.96787
NM_018249.6(CDK5RAP2):c.307-208A>G rs10739564 0.96382
NM_018249.6(CDK5RAP2):c.-19T>C rs932974 0.96160
NM_018249.6(CDK5RAP2):c.128-147A>G rs4837782 0.87263
NM_018249.4(CDK5RAP2):c.-353C>T rs932973 0.86121
NM_018249.6(CDK5RAP2):c.196-66A>G rs954214 0.84919
NM_018249.6(CDK5RAP2):c.1000-236G>C rs12683306 0.84839
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_018249.6(CDK5RAP2):c.1093-27A>G rs2095064 0.83235
NM_018249.6(CDK5RAP2):c.5626-109T>C rs4836820 0.77086
NM_018249.6(CDK5RAP2):c.5579-34G>C rs2297457 0.71354
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_018249.6(CDK5RAP2):c.5041+154T>C rs2297453 0.70211
NM_018249.6(CDK5RAP2):c.5579-176T>G rs2297456 0.68732
NM_018249.6(CDK5RAP2):c.5578+199T>C rs7859743 0.66428
NM_018249.6(CDK5RAP2):c.5578+310A>G rs10739563 0.65861
NM_018249.6(CDK5RAP2):c.5578+29C>G rs4410972 0.65760
NM_018249.6(CDK5RAP2):c.4415-161A>G rs2297454 0.37044
NM_018249.6(CDK5RAP2):c.4605-174G>C rs7874364 0.32964
NM_018249.6(CDK5RAP2):c.5451+225C>T rs12376337 0.22223
NM_018249.6(CDK5RAP2):c.5308-313G>A rs1547266 0.20154
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
NM_018249.6(CDK5RAP2):c.1483-29T>G rs2490594 0.16966
NM_018249.6(CDK5RAP2):c.60-126A>G rs2147381 0.12215
NM_018249.6(CDK5RAP2):c.1728-266G>A rs10984922 0.11990
NM_018249.6(CDK5RAP2):c.5578+48C>T rs10984902 0.10631
NM_018249.6(CDK5RAP2):c.3025+312T>C rs7040688 0.09751
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475 0.09053
NM_018249.6(CDK5RAP2):c.195+263G>T rs10984957 0.08470
NM_018249.6(CDK5RAP2):c.1311+213T>A rs111563757 0.07979
NM_018249.6(CDK5RAP2):c.480A>C (p.Leu160=) rs3750494 0.07110
NM_018249.6(CDK5RAP2):c.4415-62T>C rs36054791 0.05634
NM_018249.6(CDK5RAP2):c.3148+315C>A rs10984915 0.05551
NM_018249.6(CDK5RAP2):c.5041+207T>C rs16909739 0.05498
NM_018249.6(CDK5RAP2):c.1000-51G>C rs77536827 0.05305
NM_018249.6(CDK5RAP2):c.2106+59T>A rs75136083 0.04498
NM_018249.6(CDK5RAP2):c.4297+201G>T rs78650806 0.03789
NM_018249.6(CDK5RAP2):c.4964-192G>C rs3780673 0.03545
NM_018249.6(CDK5RAP2):c.1858+321C>T rs112202333 0.02985
NM_018249.6(CDK5RAP2):c.3065G>A (p.Gly1022Glu) rs34523498 0.02942
NM_018249.6(CDK5RAP2):c.2202+203A>G rs16909798 0.02926
NM_018249.6(CDK5RAP2):c.4726+320G>T rs77847730 0.02915
NM_018249.6(CDK5RAP2):c.2376-228T>C rs41273388 0.02840
NM_018249.6(CDK5RAP2):c.1627-347A>G rs13283499 0.02738
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=) rs3739822 0.02551
NM_018249.6(CDK5RAP2):c.128-171G>A rs56308811 0.02281
NM_018249.6(CDK5RAP2):c.1311+210C>G rs10984938 0.02279
NM_018249.6(CDK5RAP2):c.4726+120G>A rs78835673 0.02270
NM_018249.6(CDK5RAP2):c.4298-270A>G rs75436989 0.02222
NM_018249.6(CDK5RAP2):c.3025+48G>T rs74691300 0.02208
NM_018249.6(CDK5RAP2):c.5041+80C>T rs77451787 0.02177
NM_018249.6(CDK5RAP2):c.1093-14G>A rs75029577 0.02140
NM_018249.6(CDK5RAP2):c.3148+122G>T rs74701559 0.02137
NM_018249.6(CDK5RAP2):c.3148+200G>A rs117351867 0.02133
NM_018249.6(CDK5RAP2):c.59+289T>G rs77226253 0.02049
NM_018249.6(CDK5RAP2):c.1092+285T>C rs75220571 0.01963
NM_018249.6(CDK5RAP2):c.1092+142T>G rs78446107 0.01947
NM_018249.6(CDK5RAP2):c.4605-81T>C rs12339464 0.01847
NM_018249.6(CDK5RAP2):c.5042-96C>A rs75904110 0.01844
NM_018249.6(CDK5RAP2):c.1627-258G>A rs114134113 0.01812
NM_018249.6(CDK5RAP2):c.3148+193G>A rs10984916 0.01763
NM_018249.6(CDK5RAP2):c.5579-242A>G rs113524889 0.01563
NM_018249.6(CDK5RAP2):c.4821G>C (p.Arg1607Ser) rs16909747 0.01549
NM_018249.6(CDK5RAP2):c.4963+302G>C rs76865555 0.01533
NM_018249.6(CDK5RAP2):c.1312-119A>G rs80011591 0.01532
NM_018249.6(CDK5RAP2):c.5308-30C>T rs142478904 0.01530
NM_018249.6(CDK5RAP2):c.1483-27T>G rs77812790 0.01395
NM_018249.6(CDK5RAP2):c.508-157G>A rs12115543 0.01379
NM_018249.6(CDK5RAP2):c.1482+119T>C rs115951030 0.01362
NM_018249.6(CDK5RAP2):c.880-7A>G rs76132121 0.01314
NM_018249.6(CDK5RAP2):c.508-154T>C rs113976847 0.01288
NM_018249.6(CDK5RAP2):c.5578+60G>C rs7859997 0.01252
NM_018249.6(CDK5RAP2):c.3148+209G>A rs116824113 0.01144
NM_018249.6(CDK5RAP2):c.879+128G>A rs77496814 0.00942
NM_018249.6(CDK5RAP2):c.307-289T>A rs111755029 0.00939
NM_018249.6(CDK5RAP2):c.5626-80C>T rs76452024 0.00933
NM_018249.6(CDK5RAP2):c.59+62T>C rs73660588 0.00890
NM_018249.6(CDK5RAP2):c.307-4G>A rs7030969 0.00860
NM_018249.6(CDK5RAP2):c.1627-288_1627-286del rs557518375 0.00797
NM_018249.6(CDK5RAP2):c.1627-290del rs555333158 0.00797
NM_018249.6(CDK5RAP2):c.1712T>C (p.Leu571Pro) rs41296081 0.00774
NM_018249.6(CDK5RAP2):c.663-246A>G rs62577985 0.00774
NM_018249.6(CDK5RAP2):c.1968+241C>T rs114444999 0.00745
NM_018249.6(CDK5RAP2):c.2793+299A>T rs116206522 0.00728
NM_018249.6(CDK5RAP2):c.2376-218C>T rs77869514 0.00726
NM_018249.6(CDK5RAP2):c.4415-262dup rs201243638 0.00714
NM_018249.6(CDK5RAP2):c.4415-264G>C rs192388355 0.00713
NC_000009.12:g.120580337_120580339del rs200726852 0.00677
NM_018249.6(CDK5RAP2):c.195+133G>A rs112448228 0.00673
NM_018249.6(CDK5RAP2):c.2202+209G>T rs141455368 0.00660
NM_018249.6(CDK5RAP2):c.3148+183A>G rs75906965 0.00633
NM_018249.6(CDK5RAP2):c.5578+316G>A rs116591661 0.00613
NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met) rs114128928 0.00612
NM_018249.6(CDK5RAP2):c.1728-69T>G rs73660259 0.00551
NM_018249.6(CDK5RAP2):c.3666A>G (p.Gln1222=) rs77925703 0.00537
NM_018249.6(CDK5RAP2):c.879+226G>A rs59470187 0.00467
NM_018249.6(CDK5RAP2):c.1482+170G>A rs142470608 0.00441
NM_018249.6(CDK5RAP2):c.2375+308G>A rs116393613 0.00439
NM_018249.6(CDK5RAP2):c.4665G>T (p.Gln1555His) rs35909061 0.00402
NM_018249.6(CDK5RAP2):c.1000-20T>C rs147373270 0.00382
NM_018249.6(CDK5RAP2):c.4604+243T>A rs142300381 0.00371
NM_018249.6(CDK5RAP2):c.195+117G>A rs187123086 0.00364
NM_018249.6(CDK5RAP2):c.59+120G>A rs77761844 0.00364
NM_018249.6(CDK5RAP2):c.1000-32A>G rs71509524 0.00349
NM_018249.6(CDK5RAP2):c.1311+185T>G rs184898896 0.00349
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu) rs112600265 0.00333
NM_018249.6(CDK5RAP2):c.*264G>A rs181859642 0.00298
NM_018249.6(CDK5RAP2):c.2793+35T>C rs117505828 0.00294
NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=) rs145402135 0.00277
NM_018249.6(CDK5RAP2):c.5578T>C (p.Leu1860=) rs77100552 0.00243
NM_018249.6(CDK5RAP2):c.34G>C (p.Val12Leu) rs146839668 0.00224
NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=) rs144723485 0.00150
NM_018249.6(CDK5RAP2):c.2826A>T (p.Ile942=) rs142596662 0.00145
NM_018249.6(CDK5RAP2):c.1593A>G (p.Gln531=) rs140722791 0.00128
NM_018249.6(CDK5RAP2):c.412G>A (p.Gly138Ser) rs61756286 0.00127
NM_018249.6(CDK5RAP2):c.3558C>T (p.Leu1186=) rs146736925 0.00110
NM_018249.6(CDK5RAP2):c.4605-11G>C rs193196156 0.00101
NM_018249.6(CDK5RAP2):c.1859-6G>T rs763225650 0.00090
NM_018249.6(CDK5RAP2):c.1218G>A (p.Gln406=) rs61758368 0.00089
NM_018249.6(CDK5RAP2):c.1079C>T (p.Thr360Ile) rs145165171 0.00078
NM_018249.6(CDK5RAP2):c.3034C>G (p.Pro1012Ala) rs141496431 0.00073
NM_018249.6(CDK5RAP2):c.5307+49C>T rs200521701 0.00073
NM_018249.6(CDK5RAP2):c.1727+15C>G rs188328236 0.00071
NM_018249.6(CDK5RAP2):c.5201A>G (p.Tyr1734Cys) rs150994426 0.00071
NM_018249.6(CDK5RAP2):c.4730C>T (p.Ala1577Val) rs143946953 0.00069
NM_018249.6(CDK5RAP2):c.55T>C (p.Cys19Arg) rs143766657 0.00066
NM_018249.6(CDK5RAP2):c.3722+19G>A rs375915842 0.00064
NM_018249.6(CDK5RAP2):c.5308-6G>T rs147693474 0.00064
NM_018249.6(CDK5RAP2):c.4320T>A (p.Ser1440=) rs140436216 0.00063
NM_018249.6(CDK5RAP2):c.4733C>T (p.Ser1578Leu) rs138510304 0.00063
NM_018249.6(CDK5RAP2):c.2289C>T (p.His763=) rs36001459 0.00059
NM_018249.6(CDK5RAP2):c.5152C>G (p.Leu1718Val) rs141004029 0.00058
NM_018249.6(CDK5RAP2):c.4039C>G (p.Leu1347Val) rs144012972 0.00057
NM_018249.6(CDK5RAP2):c.2294C>G (p.Pro765Arg) rs139706626 0.00052
NM_018249.6(CDK5RAP2):c.2602C>G (p.Leu868Val) rs142340223 0.00047
NM_018249.6(CDK5RAP2):c.2424C>T (p.Phe808=) rs79089953 0.00046
NM_018249.6(CDK5RAP2):c.4838G>A (p.Ser1613Asn) rs202075321 0.00046
NM_018249.6(CDK5RAP2):c.4175A>G (p.Gln1392Arg) rs138157153 0.00043
NM_018249.6(CDK5RAP2):c.2885C>T (p.Thr962Met) rs141683305 0.00042
NM_018249.6(CDK5RAP2):c.2939C>T (p.Thr980Ile) rs145948550 0.00042
NM_018249.6(CDK5RAP2):c.4626G>T (p.Leu1542Phe) rs141563261 0.00039
NM_018249.6(CDK5RAP2):c.2636A>G (p.Glu879Gly) rs199766241 0.00034
NM_018249.6(CDK5RAP2):c.519C>T (p.Ala173=) rs139736411 0.00034
NM_018249.6(CDK5RAP2):c.5584G>A (p.Val1862Ile) rs147082653 0.00033
NM_018249.6(CDK5RAP2):c.5649A>G (p.Pro1883=) rs199736016 0.00031
NM_018249.6(CDK5RAP2):c.1072G>A (p.Ala358Thr) rs138995980 0.00029
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys) rs137966123 0.00029
NM_018249.6(CDK5RAP2):c.5295G>C (p.Glu1765Asp) rs199918999 0.00028
NM_018249.6(CDK5RAP2):c.3015G>A (p.Thr1005=) rs138309325 0.00026
NM_018249.6(CDK5RAP2):c.703G>A (p.Ala235Thr) rs142783338 0.00025
NM_018249.6(CDK5RAP2):c.2202+8C>T rs200043699 0.00024
NM_018249.6(CDK5RAP2):c.3686A>G (p.Asn1229Ser) rs148403620 0.00024
NM_018249.6(CDK5RAP2):c.923C>T (p.Thr308Ile) rs145272328 0.00023
NM_018249.6(CDK5RAP2):c.2376-11T>C rs374737473 0.00021
NM_018249.6(CDK5RAP2):c.3026-4G>A rs187715637 0.00020
NM_018249.6(CDK5RAP2):c.4297+5G>A rs201798027 0.00020
NM_018249.6(CDK5RAP2):c.5499T>G (p.Phe1833Leu) rs189396476 0.00019
NM_018249.6(CDK5RAP2):c.3002C>T (p.Thr1001Met) rs145293519 0.00017
NM_018249.6(CDK5RAP2):c.1892C>G (p.Ser631Cys) rs376225756 0.00013
NM_018249.6(CDK5RAP2):c.4165A>T (p.Ser1389Cys) rs200673172 0.00012
NM_018249.6(CDK5RAP2):c.4399A>G (p.Ile1467Val) rs139924571 0.00012
NM_018249.6(CDK5RAP2):c.1490A>G (p.Asn497Ser) rs375863465 0.00011
NM_018249.6(CDK5RAP2):c.1969-6T>C rs200495506 0.00011
NM_018249.6(CDK5RAP2):c.2088G>A (p.Ala696=) rs374805157 0.00011
NM_018249.6(CDK5RAP2):c.5121G>A (p.Pro1707=) rs748889605 0.00011
NM_018249.6(CDK5RAP2):c.1382A>G (p.Tyr461Cys) rs140513883 0.00009
NM_018249.6(CDK5RAP2):c.2157C>T (p.Asp719=) rs557197716 0.00009
NM_018249.6(CDK5RAP2):c.2482A>G (p.Lys828Glu) rs549081765 0.00009
NM_018249.6(CDK5RAP2):c.2532G>A (p.Lys844=) rs147892671 0.00009
NM_018249.6(CDK5RAP2):c.2793+13A>G rs185091392 0.00009
NM_018249.6(CDK5RAP2):c.3003G>A (p.Thr1001=) rs373365484 0.00009
NM_018249.6(CDK5RAP2):c.3361A>G (p.Thr1121Ala) rs201849065 0.00009
NM_018249.6(CDK5RAP2):c.4338T>A (p.Ser1446Arg) rs143341041 0.00009
NM_018249.6(CDK5RAP2):c.574C>T (p.Arg192Trp) rs369568564 0.00008
NM_018249.6(CDK5RAP2):c.2641G>A (p.Asp881Asn) rs766761953 0.00007
NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs) rs747831095 0.00007
NM_018249.6(CDK5RAP2):c.3523C>T (p.His1175Tyr) rs139143441 0.00007
NM_018249.6(CDK5RAP2):c.3769C>T (p.Arg1257Trp) rs185208659 0.00007
NM_018249.6(CDK5RAP2):c.4235C>A (p.Ser1412Tyr) rs201387927 0.00007
NM_018249.6(CDK5RAP2):c.575G>A (p.Arg192Gln) rs200650108 0.00007
NM_018249.6(CDK5RAP2):c.978A>G (p.Ala326=) rs374830118 0.00007
NM_018249.6(CDK5RAP2):c.1280G>A (p.Arg427Gln) rs141387242 0.00006
NM_018249.6(CDK5RAP2):c.2644C>G (p.Leu882Val) rs587783383 0.00006
NM_018249.6(CDK5RAP2):c.3265T>C (p.Ser1089Pro) rs138526640 0.00006
NM_018249.6(CDK5RAP2):c.4325C>T (p.Ser1442Leu) rs376138280 0.00006
NM_018249.6(CDK5RAP2):c.4425G>T (p.Lys1475Asn) rs587783389 0.00006
NM_018249.6(CDK5RAP2):c.449G>A (p.Arg150Gln) rs199723328 0.00006
NM_018249.6(CDK5RAP2):c.5517G>A (p.Leu1839=) rs374625129 0.00006
NM_018249.6(CDK5RAP2):c.4005-1G>A rs587783387 0.00005
NM_018249.6(CDK5RAP2):c.5241C>T (p.Leu1747=) rs753148214 0.00005
NM_018249.6(CDK5RAP2):c.104C>G (p.Pro35Arg) rs369355023 0.00004
NM_018249.6(CDK5RAP2):c.128-10C>G rs369751106 0.00004
NM_018249.6(CDK5RAP2):c.1627-9C>A rs773227041 0.00004
NM_018249.6(CDK5RAP2):c.1772G>A (p.Arg591Gln) rs749612238 0.00004
NM_018249.6(CDK5RAP2):c.1A>G (p.Met1Val) rs375556534 0.00004
NM_018249.6(CDK5RAP2):c.2792G>A (p.Arg931Lys) rs373118539 0.00004
NM_018249.6(CDK5RAP2):c.3240T>G (p.Thr1080=) rs549287534 0.00004
NM_018249.6(CDK5RAP2):c.3770G>A (p.Arg1257Gln) rs777532975 0.00004
NM_018249.6(CDK5RAP2):c.3953A>G (p.Asn1318Ser) rs764546841 0.00004
NM_018249.6(CDK5RAP2):c.4393A>G (p.Met1465Val) rs201864352 0.00004
NM_018249.6(CDK5RAP2):c.5105C>T (p.Ser1702Leu) rs777175354 0.00004
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs) rs587783393 0.00004
NM_018249.6(CDK5RAP2):c.5354C>T (p.Thr1785Met) rs751971032 0.00004
NM_018249.6(CDK5RAP2):c.2202+1G>A rs755591966 0.00003
NM_018249.6(CDK5RAP2):c.4211C>A (p.Thr1404Asn) rs886063394 0.00003
NM_018249.6(CDK5RAP2):c.5362C>A (p.Leu1788Met) rs375896806 0.00003
NM_018249.6(CDK5RAP2):c.5373A>C (p.Glu1791Asp) rs774322006 0.00003
NM_018249.6(CDK5RAP2):c.619G>A (p.Glu207Lys) rs756502330 0.00003
NM_018249.6(CDK5RAP2):c.1145C>T (p.Ala382Val) rs751126483 0.00002
NM_018249.6(CDK5RAP2):c.1340G>A (p.Arg447His) rs777203757 0.00002
NM_018249.6(CDK5RAP2):c.1859-5G>T rs75096912 0.00002
NM_018249.6(CDK5RAP2):c.2484G>A (p.Lys828=) rs745541294 0.00002
NM_018249.6(CDK5RAP2):c.2714C>T (p.Ala905Val) rs750689530 0.00002
NM_018249.6(CDK5RAP2):c.3174C>A (p.Asp1058Glu) rs143639333 0.00002
NM_018249.6(CDK5RAP2):c.3402A>G (p.Gln1134=) rs770547701 0.00002
NM_018249.6(CDK5RAP2):c.4335T>C (p.His1445=) rs146763491 0.00002
NM_018249.6(CDK5RAP2):c.4605-6T>C rs752004121 0.00002
NM_018249.6(CDK5RAP2):c.5222T>C (p.Ile1741Thr) rs754398195 0.00002
NM_018249.6(CDK5RAP2):c.81A>G (p.Pro27=) rs780156492 0.00002
NM_018249.6(CDK5RAP2):c.108T>C (p.Asn36=) rs760045017 0.00001
NM_018249.6(CDK5RAP2):c.1433T>C (p.Val478Ala) rs587783382 0.00001
NM_018249.6(CDK5RAP2):c.2331T>C (p.Leu777=) rs1193597908 0.00001
NM_018249.6(CDK5RAP2):c.2571A>G (p.Leu857=) rs562717417 0.00001
NM_018249.6(CDK5RAP2):c.2720A>T (p.His907Leu) rs766506183 0.00001
NM_018249.6(CDK5RAP2):c.344G>A (p.Arg115Gln) rs772364241 0.00001
NM_018249.6(CDK5RAP2):c.3662T>C (p.Met1221Thr) rs1085307850 0.00001
NM_018249.6(CDK5RAP2):c.3885C>T (p.Ala1295=) rs376326615 0.00001
NM_018249.6(CDK5RAP2):c.3997A>C (p.Met1333Leu) rs2034639358 0.00001
NM_018249.6(CDK5RAP2):c.4005-9A>G rs766773448 0.00001
NM_018249.6(CDK5RAP2):c.432G>A (p.Arg144=) rs1294025170 0.00001
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter) rs587783390 0.00001
NM_018249.6(CDK5RAP2):c.4497C>A (p.Ala1499=) rs886063393 0.00001
NM_018249.6(CDK5RAP2):c.4546G>T (p.Glu1516Ter) rs374351172 0.00001
NM_018249.6(CDK5RAP2):c.4579C>T (p.Arg1527Cys) rs768629906 0.00001
NM_018249.6(CDK5RAP2):c.4785G>A (p.Leu1595=) rs1381633931 0.00001
NM_018249.6(CDK5RAP2):c.4845G>T (p.Leu1615=) rs1202824419 0.00001
NM_018249.6(CDK5RAP2):c.4962C>T (p.His1654=) rs764342492 0.00001
NM_018249.6(CDK5RAP2):c.5106G>A (p.Ser1702=) rs769061645 0.00001
NM_018249.6(CDK5RAP2):c.51C>T (p.Ser17=) rs562622614 0.00001
NM_018249.6(CDK5RAP2):c.5227C>T (p.Gln1743Ter) rs587783392 0.00001
NM_018249.6(CDK5RAP2):c.5412A>C (p.Ser1804=) rs919150866 0.00001
NM_018249.6(CDK5RAP2):c.5413C>T (p.Leu1805Phe) rs545543130 0.00001
NM_018249.6(CDK5RAP2):c.632C>T (p.Ala211Val) rs1266143749 0.00001
NM_018249.6(CDK5RAP2):c.640C>G (p.Leu214Val) rs749992541 0.00001
NM_018249.6(CDK5RAP2):c.651T>C (p.Asp217=) rs1285139718 0.00001
NM_018249.6(CDK5RAP2):c.749C>T (p.Pro250Leu) rs568558844 0.00001
NM_018249.6(CDK5RAP2):c.972C>G (p.Thr324=) rs372862905 0.00001
GRCh37/hg19 9q33.2(chr9:123227720-123284486)x1
GRCh37/hg19 9q33.2(chr9:123292273-123310737)x1
GRCh37/hg19 9q33.2(chr9:123292273-123310996)x1
GRCh37/hg19 9q33.2(chr9:123292273-123314123)x1
NC_000009.11:g.(?_123151514)_(123330686_?)dup
NC_000009.11:g.(?_123334232)_(123334339_?)del
NC_000009.12:g.120580340G>C rs114952595
NM_018249.6(CDK5RAP2):c.-58G>T rs567847377
NM_018249.6(CDK5RAP2):c.1000-15A>G
NM_018249.6(CDK5RAP2):c.1021A>G (p.Ile341Val)
NM_018249.6(CDK5RAP2):c.103C>G (p.Pro35Ala)
NM_018249.6(CDK5RAP2):c.1066C>T (p.Gln356Ter) rs1564338190
NM_018249.6(CDK5RAP2):c.1080C>A (p.Thr360=)
NM_018249.6(CDK5RAP2):c.1092+11A>G
NM_018249.6(CDK5RAP2):c.1092+17C>G
NM_018249.6(CDK5RAP2):c.1092+17C>T
NM_018249.6(CDK5RAP2):c.1092+2dup
NM_018249.6(CDK5RAP2):c.1093-15T>C
NM_018249.6(CDK5RAP2):c.1095G>A (p.Gly365=)
NM_018249.6(CDK5RAP2):c.1097C>A (p.Ser366Tyr)
NM_018249.6(CDK5RAP2):c.10T>C (p.Leu4=)
NM_018249.6(CDK5RAP2):c.1106A>G (p.Tyr369Cys)
NM_018249.6(CDK5RAP2):c.1111A>G (p.Thr371Ala)
NM_018249.6(CDK5RAP2):c.1146G>A (p.Ala382=)
NM_018249.6(CDK5RAP2):c.1146G>T (p.Ala382=) rs765972168
NM_018249.6(CDK5RAP2):c.114G>A (p.Gly38=)
NM_018249.6(CDK5RAP2):c.1151G>A (p.Arg384His)
NM_018249.6(CDK5RAP2):c.1155A>T (p.Ser385=)
NM_018249.6(CDK5RAP2):c.1172G>A (p.Ser391Asn)
NM_018249.6(CDK5RAP2):c.1199G>A (p.Ser400Asn)
NM_018249.6(CDK5RAP2):c.1200C>T (p.Ser400=)
NM_018249.6(CDK5RAP2):c.1227T>C (p.Ser409=) rs765012481
NM_018249.6(CDK5RAP2):c.127+19G>A
NM_018249.6(CDK5RAP2):c.127+4_127+7del
NM_018249.6(CDK5RAP2):c.128-13T>A
NM_018249.6(CDK5RAP2):c.128-19C>A
NM_018249.6(CDK5RAP2):c.128-92C>G rs75688196
NM_018249.6(CDK5RAP2):c.1284G>A (p.Glu428=)
NM_018249.6(CDK5RAP2):c.1292A>G (p.Lys431Arg)
NM_018249.6(CDK5RAP2):c.1306A>G (p.Ile436Val)
NM_018249.6(CDK5RAP2):c.1309C>T (p.Arg437Cys)
NM_018249.6(CDK5RAP2):c.1311+10G>A
NM_018249.6(CDK5RAP2):c.1311+200C>T rs868618609
NM_018249.6(CDK5RAP2):c.1311+205_1311+230del rs1313570179
NM_018249.6(CDK5RAP2):c.1311+209_1311+218del rs1328701473
NM_018249.6(CDK5RAP2):c.1311+209_1311+222del rs1392035969
NM_018249.6(CDK5RAP2):c.1311+213_1311+214insTG rs55747215
NM_018249.6(CDK5RAP2):c.1311+215_1311+216insGTCTCACA rs1554770754
NM_018249.6(CDK5RAP2):c.1311+216CA[17] rs56032707
NM_018249.6(CDK5RAP2):c.1311+216CA[25] rs56032707
NM_018249.6(CDK5RAP2):c.1311+216CA[26] rs56032707
NM_018249.6(CDK5RAP2):c.1312-286_1312-285del rs570816083
NM_018249.6(CDK5RAP2):c.1312-6T>C
NM_018249.6(CDK5RAP2):c.1339C>T (p.Arg447Cys)
NM_018249.6(CDK5RAP2):c.1362G>A (p.Glu454=)
NM_018249.6(CDK5RAP2):c.1371G>A (p.Met457Ile)
NM_018249.6(CDK5RAP2):c.1378C>T (p.Arg460Cys)
NM_018249.6(CDK5RAP2):c.140del (p.Val47fs) rs786205660
NM_018249.6(CDK5RAP2):c.1421A>G (p.Asn474Ser)
NM_018249.6(CDK5RAP2):c.1427A>G (p.Glu476Gly) rs2038897037
NM_018249.6(CDK5RAP2):c.1470C>T (p.Asp490=)
NM_018249.6(CDK5RAP2):c.1471G>C (p.Val491Leu)
NM_018249.6(CDK5RAP2):c.1482+17A>G
NM_018249.6(CDK5RAP2):c.1483-10A>G
NM_018249.6(CDK5RAP2):c.1498G>C (p.Asp500His)
NM_018249.6(CDK5RAP2):c.1550A>T (p.Glu517Val)
NM_018249.6(CDK5RAP2):c.156G>T (p.Val52=)
NM_018249.6(CDK5RAP2):c.1626+18T>A
NM_018249.6(CDK5RAP2):c.1626+318G>T rs73660260
NM_018249.6(CDK5RAP2):c.1627-14A>G
NM_018249.6(CDK5RAP2):c.1627-316A>C rs76628072
NM_018249.6(CDK5RAP2):c.1649A>G (p.Tyr550Cys)
NM_018249.6(CDK5RAP2):c.1654_1655delinsTT (p.Glu552Leu) rs2131564281
NM_018249.6(CDK5RAP2):c.1668C>T (p.Val556=)
NM_018249.6(CDK5RAP2):c.1668_1674del (p.Leu557fs)
NM_018249.6(CDK5RAP2):c.1695C>T (p.Thr565=)
NM_018249.6(CDK5RAP2):c.1709C>A (p.Ser570Tyr)
NM_018249.6(CDK5RAP2):c.1711C>T (p.Leu571=)
NM_018249.6(CDK5RAP2):c.1712_1713inv (p.Leu571Pro)
NM_018249.6(CDK5RAP2):c.1727+16T>C
NM_018249.6(CDK5RAP2):c.1727+18G>A
NM_018249.6(CDK5RAP2):c.1727+18G>C
NM_018249.6(CDK5RAP2):c.1727+6C>G
NM_018249.6(CDK5RAP2):c.1727+7G>A
NM_018249.6(CDK5RAP2):c.172C>T (p.Arg58Trp)
NM_018249.6(CDK5RAP2):c.173G>A (p.Arg58Gln)
NM_018249.6(CDK5RAP2):c.1768C>T (p.Leu590=)
NM_018249.6(CDK5RAP2):c.1770G>A (p.Leu590=)
NM_018249.6(CDK5RAP2):c.1808A>T (p.Asn603Ile)
NM_018249.6(CDK5RAP2):c.1821C>T (p.Thr607=)
NM_018249.6(CDK5RAP2):c.1824G>A (p.Leu608=)
NM_018249.6(CDK5RAP2):c.1839C>T (p.Ser613=)
NM_018249.6(CDK5RAP2):c.1846C>T (p.Arg616Trp)
NM_018249.6(CDK5RAP2):c.1852C>T (p.Arg618Trp)
NM_018249.6(CDK5RAP2):c.1858+17A>T
NM_018249.6(CDK5RAP2):c.1858+18T>C
NM_018249.6(CDK5RAP2):c.1858+20T>G
NM_018249.6(CDK5RAP2):c.1859-14del
NM_018249.6(CDK5RAP2):c.1859-14dup rs747385902
NM_018249.6(CDK5RAP2):c.1862A>C (p.Glu621Ala)
NM_018249.6(CDK5RAP2):c.1873C>T (p.Leu625Phe)
NM_018249.6(CDK5RAP2):c.1895A>G (p.Tyr632Cys)
NM_018249.6(CDK5RAP2):c.1911T>C (p.Leu637=)
NM_018249.6(CDK5RAP2):c.1922A>G (p.Asn641Ser)
NM_018249.6(CDK5RAP2):c.1924C>T (p.Arg642Trp)
NM_018249.6(CDK5RAP2):c.196-15T>C
NM_018249.6(CDK5RAP2):c.196-76C>T rs73660580
NM_018249.6(CDK5RAP2):c.1967del (p.Lys656fs) rs1554755313
NM_018249.6(CDK5RAP2):c.1968+16T>G
NM_018249.6(CDK5RAP2):c.1968+279T>C rs146113113
NM_018249.6(CDK5RAP2):c.1968+9C>T
NM_018249.6(CDK5RAP2):c.1969-4C>T
NM_018249.6(CDK5RAP2):c.1969-6T>G
NM_018249.6(CDK5RAP2):c.1995G>A (p.Lys665=)
NM_018249.6(CDK5RAP2):c.2059C>A (p.Gln687Lys)
NM_018249.6(CDK5RAP2):c.205G>A (p.Glu69Lys)
NM_018249.6(CDK5RAP2):c.2102C>T (p.Thr701Ile)
NM_018249.6(CDK5RAP2):c.2107-10C>T rs539537887
NM_018249.6(CDK5RAP2):c.2107-13A>G
NM_018249.6(CDK5RAP2):c.2107-15_2108del
NM_018249.6(CDK5RAP2):c.2107-16T>C
NM_018249.6(CDK5RAP2):c.2126A>G (p.Asp709Gly)
NM_018249.6(CDK5RAP2):c.2135C>T (p.Thr712Met)
NM_018249.6(CDK5RAP2):c.2136G>A (p.Thr712=)
NM_018249.6(CDK5RAP2):c.2165dup (p.Asn722fs)
NM_018249.6(CDK5RAP2):c.2193G>A (p.Gln731=)
NM_018249.6(CDK5RAP2):c.2203-168CT[3] rs149429216
NM_018249.6(CDK5RAP2):c.2203-2A>T
NM_018249.6(CDK5RAP2):c.2231G>A (p.Cys744Tyr)
NM_018249.6(CDK5RAP2):c.2241A>G (p.Gly747=)
NM_018249.6(CDK5RAP2):c.2258A>G (p.Glu753Gly)
NM_018249.6(CDK5RAP2):c.2270C>T (p.Ser757Leu)
NM_018249.6(CDK5RAP2):c.2290G>A (p.Ala764Thr)
NM_018249.6(CDK5RAP2):c.2290G>C (p.Ala764Pro)
NM_018249.6(CDK5RAP2):c.2301C>T (p.Cys767=)
NM_018249.6(CDK5RAP2):c.2346T>C (p.Asn782=)
NM_018249.6(CDK5RAP2):c.2376G>T (p.Arg792Ser)
NM_018249.6(CDK5RAP2):c.2385T>C (p.Leu795=)
NM_018249.6(CDK5RAP2):c.2398C>T (p.Arg800Trp)
NM_018249.6(CDK5RAP2):c.2399G>A (p.Arg800Gln)
NM_018249.6(CDK5RAP2):c.2403A>G (p.Glu801=)
NM_018249.6(CDK5RAP2):c.2457_2466del (p.Asp820fs)
NM_018249.6(CDK5RAP2):c.245A>G (p.Tyr82Cys)
NM_018249.6(CDK5RAP2):c.2477C>T (p.Thr826Ile)
NM_018249.6(CDK5RAP2):c.2490A>G (p.Lys830=)
NM_018249.6(CDK5RAP2):c.2535A>C (p.Pro845=)
NM_018249.6(CDK5RAP2):c.2535A>G (p.Pro845=)
NM_018249.6(CDK5RAP2):c.2545C>T (p.Leu849=)
NM_018249.6(CDK5RAP2):c.2561A>C (p.Glu854Ala)
NM_018249.6(CDK5RAP2):c.2565C>T (p.Ala855=)
NM_018249.6(CDK5RAP2):c.2583C>T (p.Gly861=)
NM_018249.6(CDK5RAP2):c.2611G>A (p.Ala871Thr)
NM_018249.6(CDK5RAP2):c.2634G>A (p.Thr878=)
NM_018249.6(CDK5RAP2):c.2634G>T (p.Thr878=)
NM_018249.6(CDK5RAP2):c.2640C>T (p.Gly880=)
NM_018249.6(CDK5RAP2):c.2643C>T (p.Asp881=)
NM_018249.6(CDK5RAP2):c.2648T>G (p.Leu883Arg)
NM_018249.6(CDK5RAP2):c.2656A>G (p.Lys886Glu)
NM_018249.6(CDK5RAP2):c.2694G>A (p.Pro898=)
NM_018249.6(CDK5RAP2):c.2712C>T (p.Ser904=)
NM_018249.6(CDK5RAP2):c.2722C>T (p.Arg908Trp)
NM_018249.6(CDK5RAP2):c.2739C>T (p.His913=)
NM_018249.6(CDK5RAP2):c.2742G>C (p.Gly914=)
NM_018249.6(CDK5RAP2):c.2787C>T (p.Thr929=)
NM_018249.6(CDK5RAP2):c.2790C>T (p.Asn930=)
NM_018249.6(CDK5RAP2):c.2794-12G>A
NM_018249.6(CDK5RAP2):c.2818A>C (p.Ile940Leu)
NM_018249.6(CDK5RAP2):c.2834C>T (p.Ser945Phe)
NM_018249.6(CDK5RAP2):c.2836C>T (p.Arg946Trp)
NM_018249.6(CDK5RAP2):c.2837G>A (p.Arg946Gln)
NM_018249.6(CDK5RAP2):c.2852T>C (p.Met951Thr)
NM_018249.6(CDK5RAP2):c.2886G>A (p.Thr962=)
NM_018249.6(CDK5RAP2):c.2893C>T (p.Gln965Ter)
NM_018249.6(CDK5RAP2):c.2905T>C (p.Leu969=)
NM_018249.6(CDK5RAP2):c.2914C>T (p.Gln972Ter)
NM_018249.6(CDK5RAP2):c.2928G>A (p.Lys976=)
NM_018249.6(CDK5RAP2):c.2964G>A (p.Lys988=)
NM_018249.6(CDK5RAP2):c.2992G>A (p.Gly998Arg)
NM_018249.6(CDK5RAP2):c.3004C>G (p.Pro1002Ala)
NM_018249.6(CDK5RAP2):c.3006C>G (p.Pro1002=)
NM_018249.6(CDK5RAP2):c.3006C>T (p.Pro1002=)
NM_018249.6(CDK5RAP2):c.3025+14A>T
NM_018249.6(CDK5RAP2):c.3026-8G>A
NM_018249.6(CDK5RAP2):c.3027T>C (p.Ala1009=)
NM_018249.6(CDK5RAP2):c.3039G>A (p.Val1013=)
NM_018249.6(CDK5RAP2):c.306+11C>T
NM_018249.6(CDK5RAP2):c.3069G>C (p.Glu1023Asp)
NM_018249.6(CDK5RAP2):c.307-4G>T
NM_018249.6(CDK5RAP2):c.3134G>A (p.Arg1045Lys)
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr) rs3780679
NM_018249.6(CDK5RAP2):c.3144G>T (p.Glu1048Asp)
NM_018249.6(CDK5RAP2):c.3148+17del
NM_018249.6(CDK5RAP2):c.3148+5G>C
NM_018249.6(CDK5RAP2):c.3149-78_3149-74del rs137974661
NM_018249.6(CDK5RAP2):c.3150C>G (p.Asp1050Glu)
NM_018249.6(CDK5RAP2):c.3160T>C (p.Cys1054Arg)
NM_018249.6(CDK5RAP2):c.3194G>A (p.Cys1065Tyr)
NM_018249.6(CDK5RAP2):c.3243C>T (p.Tyr1081=)
NM_018249.6(CDK5RAP2):c.3244C>T (p.Leu1082=)
NM_018249.6(CDK5RAP2):c.3249T>A (p.Ser1083Arg)
NM_018249.6(CDK5RAP2):c.3288G>A (p.Gly1096=)
NM_018249.6(CDK5RAP2):c.332A>G (p.Glu111Gly)
NM_018249.6(CDK5RAP2):c.3531G>A (p.Val1177=)
NM_018249.6(CDK5RAP2):c.3537C>T (p.Tyr1179=)
NM_018249.6(CDK5RAP2):c.3538G>A (p.Val1180Met)
NM_018249.6(CDK5RAP2):c.3561T>G (p.Gly1187=) rs1443333606
NM_018249.6(CDK5RAP2):c.3564G>A (p.Pro1188=)
NM_018249.6(CDK5RAP2):c.3577A>G (p.Met1193Val)
NM_018249.6(CDK5RAP2):c.3578T>G (p.Met1193Arg)
NM_018249.6(CDK5RAP2):c.3580A>G (p.Ile1194Val)
NM_018249.6(CDK5RAP2):c.3585C>G (p.Asp1195Glu)
NM_018249.6(CDK5RAP2):c.3630A>G (p.Glu1210=)
NM_018249.6(CDK5RAP2):c.3633C>T (p.Tyr1211=)
NM_018249.6(CDK5RAP2):c.3635A>T (p.Lys1212Met)
NM_018249.6(CDK5RAP2):c.367C>T (p.Leu123=)
NM_018249.6(CDK5RAP2):c.3688C>G (p.Leu1230Val)
NM_018249.6(CDK5RAP2):c.369G>T (p.Leu123=)
NM_018249.6(CDK5RAP2):c.36C>T (p.Val12=)
NM_018249.6(CDK5RAP2):c.3720C>T (p.Pro1240=)
NM_018249.6(CDK5RAP2):c.3722+14C>T
NM_018249.6(CDK5RAP2):c.3722+18C>T
NM_018249.6(CDK5RAP2):c.3723-8T>C rs1554743047
NM_018249.6(CDK5RAP2):c.3726C>T (p.Tyr1242=)
NM_018249.6(CDK5RAP2):c.373A>T (p.Ile125Phe)
NM_018249.6(CDK5RAP2):c.374T>C (p.Ile125Thr)
NM_018249.6(CDK5RAP2):c.3750C>G (p.Ala1250=)
NM_018249.6(CDK5RAP2):c.3753G>A (p.Arg1251=)
NM_018249.6(CDK5RAP2):c.3763C>T (p.Leu1255Phe)
NM_018249.6(CDK5RAP2):c.37C>T (p.Pro13Ser)
NM_018249.6(CDK5RAP2):c.3812G>A (p.Arg1271His)
NM_018249.6(CDK5RAP2):c.3828C>T (p.Thr1276=)
NM_018249.6(CDK5RAP2):c.383+10A>T
NM_018249.6(CDK5RAP2):c.383+16C>T
NM_018249.6(CDK5RAP2):c.383+17G>A
NM_018249.6(CDK5RAP2):c.383+76del rs60645195
NM_018249.6(CDK5RAP2):c.383C>G (p.Ser128Cys) rs758009123
NM_018249.6(CDK5RAP2):c.384-1G>A
NM_018249.6(CDK5RAP2):c.3867T>C (p.Asp1289=)
NM_018249.6(CDK5RAP2):c.3901C>T (p.Gln1301Ter)
NM_018249.6(CDK5RAP2):c.390A>C (p.Ala130=)
NM_018249.6(CDK5RAP2):c.3934T>C (p.Leu1312=)
NM_018249.6(CDK5RAP2):c.3955+20C>T
NM_018249.6(CDK5RAP2):c.3955+7A>G rs1370189840
NM_018249.6(CDK5RAP2):c.3956-14A>G
NM_018249.6(CDK5RAP2):c.3984C>T (p.Thr1328=)
NM_018249.6(CDK5RAP2):c.39T>C (p.Pro13=)
NM_018249.6(CDK5RAP2):c.4004+11A>C
NM_018249.6(CDK5RAP2):c.4004+12A>G
NM_018249.6(CDK5RAP2):c.4004+16T>C
NM_018249.6(CDK5RAP2):c.4004+16T>G
NM_018249.6(CDK5RAP2):c.4005-3A>G
NM_018249.6(CDK5RAP2):c.4065C>T (p.Ala1355=)
NM_018249.6(CDK5RAP2):c.4077_4080del (p.Ser1360fs)
NM_018249.6(CDK5RAP2):c.4098A>G (p.Glu1366=)
NM_018249.6(CDK5RAP2):c.4105T>C (p.Phe1369Leu)
NM_018249.6(CDK5RAP2):c.410C>T (p.Ala137Val)
NM_018249.6(CDK5RAP2):c.4129G>A (p.Asp1377Asn)
NM_018249.6(CDK5RAP2):c.4131T>C (p.Asp1377=)
NM_018249.6(CDK5RAP2):c.4156A>G (p.Met1386Val)
NM_018249.6(CDK5RAP2):c.4164_4165del (p.Asn1388fs)
NM_018249.6(CDK5RAP2):c.4177+11C>A
NM_018249.6(CDK5RAP2):c.4177+16T>G
NM_018249.6(CDK5RAP2):c.4177+9A>G
NM_018249.6(CDK5RAP2):c.4178-7C>A
NM_018249.6(CDK5RAP2):c.4200G>A (p.Gln1400=)
NM_018249.6(CDK5RAP2):c.4207C>G (p.Arg1403Gly)
NM_018249.6(CDK5RAP2):c.4208G>A (p.Arg1403Gln)
NM_018249.6(CDK5RAP2):c.4222C>T (p.Arg1408Cys) rs151259479
NM_018249.6(CDK5RAP2):c.4237A>G (p.Ile1413Val)
NM_018249.6(CDK5RAP2):c.4258C>T (p.Arg1420Trp)
NM_018249.6(CDK5RAP2):c.4273C>A (p.Arg1425=)
NM_018249.6(CDK5RAP2):c.4273C>T (p.Arg1425Trp)
NM_018249.6(CDK5RAP2):c.4279G>A (p.Gly1427Arg)
NM_018249.6(CDK5RAP2):c.4295A>G (p.Gln1432Arg)
NM_018249.6(CDK5RAP2):c.4297+12C>A
NM_018249.6(CDK5RAP2):c.4298-16A>T
NM_018249.6(CDK5RAP2):c.4298-4A>G
NM_018249.6(CDK5RAP2):c.4306A>G (p.Ser1436Gly) rs1316940946
NM_018249.6(CDK5RAP2):c.430C>T (p.Arg144Trp) rs763240159
NM_018249.6(CDK5RAP2):c.431G>A (p.Arg144Gln)
NM_018249.6(CDK5RAP2):c.4410C>G (p.Ser1470=) rs1588262618
NM_018249.6(CDK5RAP2):c.4414+1G>T
NM_018249.6(CDK5RAP2):c.4415-15T>A
NM_018249.6(CDK5RAP2):c.4415-17C>G
NM_018249.6(CDK5RAP2):c.4415-6T>C
NM_018249.6(CDK5RAP2):c.4420C>T (p.Gln1474Ter)
NM_018249.6(CDK5RAP2):c.4442G>A (p.Arg1481Gln)
NM_018249.6(CDK5RAP2):c.4443A>C (p.Arg1481=)
NM_018249.6(CDK5RAP2):c.4446G>A (p.Glu1482=) rs756031896
NM_018249.6(CDK5RAP2):c.4487G>A (p.Arg1496Gln)
NM_018249.6(CDK5RAP2):c.4500C>T (p.Ser1500=)
NM_018249.6(CDK5RAP2):c.4501G>A (p.Val1501Met)
NM_018249.6(CDK5RAP2):c.4566del (p.Ile1523fs)
NM_018249.6(CDK5RAP2):c.4587C>T (p.Ser1529=)
NM_018249.6(CDK5RAP2):c.459G>A (p.Val153=) rs1085307847
NM_018249.6(CDK5RAP2):c.4605-3C>G
NM_018249.6(CDK5RAP2):c.4605-5C>T
NM_018249.6(CDK5RAP2):c.4608G>T (p.Val1536=)
NM_018249.6(CDK5RAP2):c.4618G>T (p.Val1540Leu)
NM_018249.6(CDK5RAP2):c.4681C>G (p.Leu1561Val)
NM_018249.6(CDK5RAP2):c.4689G>A (p.Ala1563=)
NM_018249.6(CDK5RAP2):c.4726+5T>A
NM_018249.6(CDK5RAP2):c.4727-192G>C rs2282168
NM_018249.6(CDK5RAP2):c.4727-8G>A
NM_018249.6(CDK5RAP2):c.472G>A (p.Asp158Asn) rs2131981616
NM_018249.6(CDK5RAP2):c.4757A>G (p.Asp1586Gly)
NM_018249.6(CDK5RAP2):c.4776C>T (p.His1592=)
NM_018249.6(CDK5RAP2):c.4794C>T (p.Ile1598=) rs1446911588
NM_018249.6(CDK5RAP2):c.47T>C (p.Leu16Pro)
NM_018249.6(CDK5RAP2):c.4805G>A (p.Arg1602His)
NM_018249.6(CDK5RAP2):c.483T>C (p.Thr161=)
NM_018249.6(CDK5RAP2):c.4851C>T (p.Ser1617=)
NM_018249.6(CDK5RAP2):c.485A>G (p.Lys162Arg)
NM_018249.6(CDK5RAP2):c.4867C>T (p.Leu1623=)
NM_018249.6(CDK5RAP2):c.4909C>T (p.Leu1637=) rs1588249600
NM_018249.6(CDK5RAP2):c.4923C>T (p.Ala1641=)
NM_018249.6(CDK5RAP2):c.4926G>A (p.Val1642=)
NM_018249.6(CDK5RAP2):c.4934C>T (p.Pro1645Leu)
NM_018249.6(CDK5RAP2):c.4945C>T (p.Leu1649Phe)
NM_018249.6(CDK5RAP2):c.4963+10C>G rs1588249245
NM_018249.6(CDK5RAP2):c.4963+2T>C
NM_018249.6(CDK5RAP2):c.4977T>G (p.Tyr1659Ter)
NM_018249.6(CDK5RAP2):c.5007G>A (p.Leu1669=)
NM_018249.6(CDK5RAP2):c.5042-13_5042-11del
NM_018249.6(CDK5RAP2):c.507+12A>G
NM_018249.6(CDK5RAP2):c.5075C>T (p.Thr1692Met)
NM_018249.6(CDK5RAP2):c.5076G>A (p.Thr1692=)
NM_018249.6(CDK5RAP2):c.508-55A>G rs73660578
NM_018249.6(CDK5RAP2):c.508-8G>A
NM_018249.6(CDK5RAP2):c.508-8G>T rs370920213
NM_018249.6(CDK5RAP2):c.5091C>T (p.Cys1697=)
NM_018249.6(CDK5RAP2):c.5120C>T (p.Pro1707Leu)
NM_018249.6(CDK5RAP2):c.5126T>C (p.Val1709Ala)
NM_018249.6(CDK5RAP2):c.512T>A (p.Val171Glu)
NM_018249.6(CDK5RAP2):c.5131C>T (p.Arg1711Cys)
NM_018249.6(CDK5RAP2):c.5143G>A (p.Gly1715Ser)
NM_018249.6(CDK5RAP2):c.5157G>A (p.Trp1719Ter) rs759189611
NM_018249.6(CDK5RAP2):c.5174G>T (p.Arg1725Leu)
NM_018249.6(CDK5RAP2):c.5177A>G (p.His1726Arg)
NM_018249.6(CDK5RAP2):c.518C>T (p.Ala173Val)
NM_018249.6(CDK5RAP2):c.5212C>G (p.Leu1738Val)
NM_018249.6(CDK5RAP2):c.522C>T (p.Ala174=)
NM_018249.6(CDK5RAP2):c.5257A>G (p.Ile1753Val)
NM_018249.6(CDK5RAP2):c.5298G>A (p.Leu1766=)
NM_018249.6(CDK5RAP2):c.5307+6C>T
NM_018249.6(CDK5RAP2):c.5308-11C>T
NM_018249.6(CDK5RAP2):c.5308-261G>A rs115889058
NM_018249.6(CDK5RAP2):c.5308-6G>A rs147693474
NM_018249.6(CDK5RAP2):c.530A>T (p.Glu177Val)
NM_018249.6(CDK5RAP2):c.531A>G (p.Glu177=)
NM_018249.6(CDK5RAP2):c.533T>C (p.Leu178Pro) rs587783394
NM_018249.6(CDK5RAP2):c.5364G>A (p.Leu1788=)
NM_018249.6(CDK5RAP2):c.5388G>C (p.Arg1796=) rs1447614166
NM_018249.6(CDK5RAP2):c.5433C>A (p.Cys1811Ter) rs2032934405
NM_018249.6(CDK5RAP2):c.5436C>T (p.Pro1812=)
NM_018249.6(CDK5RAP2):c.5451+8G>A
NM_018249.6(CDK5RAP2):c.5452-11C>T
NM_018249.6(CDK5RAP2):c.5452-30_5452-3del
NM_018249.6(CDK5RAP2):c.5452-6C>G
NM_018249.6(CDK5RAP2):c.5452-7T>C rs1588215914
NM_018249.6(CDK5RAP2):c.5452-8C>T
NM_018249.6(CDK5RAP2):c.546T>C (p.Phe182=)
NM_018249.6(CDK5RAP2):c.550G>A (p.Gly184Arg)
NM_018249.6(CDK5RAP2):c.5513A>C (p.Lys1838Thr)
NM_018249.6(CDK5RAP2):c.5526C>T (p.Thr1842=)
NM_018249.6(CDK5RAP2):c.5553C>T (p.Arg1851=)
NM_018249.6(CDK5RAP2):c.5566A>G (p.Ile1856Val)
NM_018249.6(CDK5RAP2):c.5578+133A>C rs10984901
NM_018249.6(CDK5RAP2):c.5579-15T>G
NM_018249.6(CDK5RAP2):c.5579-195C>T rs2297455
NM_018249.6(CDK5RAP2):c.5579-19T>A
NM_018249.6(CDK5RAP2):c.558_559del (p.Glu186fs)
NM_018249.6(CDK5RAP2):c.5603G>T (p.Arg1868Leu)
NM_018249.6(CDK5RAP2):c.560C>T (p.Thr187Met)
NM_018249.6(CDK5RAP2):c.561G>C (p.Thr187=) rs756635555
NM_018249.6(CDK5RAP2):c.5622G>A (p.Leu1874=)
NM_018249.6(CDK5RAP2):c.5625+16C>T
NM_018249.6(CDK5RAP2):c.5626-18T>C
NM_018249.6(CDK5RAP2):c.5626-5C>T
NM_018249.6(CDK5RAP2):c.5639G>A (p.Gly1880Glu)
NM_018249.6(CDK5RAP2):c.5643C>T (p.Ala1881=)
NM_018249.6(CDK5RAP2):c.5647C>T (p.Pro1883Ser)
NM_018249.6(CDK5RAP2):c.589A>G (p.Ser197Gly)
NM_018249.6(CDK5RAP2):c.59+13C>T
NM_018249.6(CDK5RAP2):c.59+9G>C
NM_018249.6(CDK5RAP2):c.662+20C>A
NM_018249.6(CDK5RAP2):c.714G>A (p.Gln238=) rs1588581203
NM_018249.6(CDK5RAP2):c.720T>C (p.Leu240=) rs2041081596
NM_018249.6(CDK5RAP2):c.726G>A (p.Glu242=)
NM_018249.6(CDK5RAP2):c.727G>T (p.Glu243Ter)
NM_018249.6(CDK5RAP2):c.731A>G (p.Lys244Arg)
NM_018249.6(CDK5RAP2):c.778C>T (p.Arg260Ter)
NM_018249.6(CDK5RAP2):c.792T>C (p.Ala264=)
NM_018249.6(CDK5RAP2):c.798A>C (p.Pro266=)
NM_018249.6(CDK5RAP2):c.825+11A>G
NM_018249.6(CDK5RAP2):c.825+17T>C
NM_018249.6(CDK5RAP2):c.826-285G>A rs148662163
NM_018249.6(CDK5RAP2):c.826-298C>G rs77836388
NM_018249.6(CDK5RAP2):c.826-86C>T rs114385062
NM_018249.6(CDK5RAP2):c.857A>G (p.Asn286Ser)
NM_018249.6(CDK5RAP2):c.879+12C>T
NM_018249.6(CDK5RAP2):c.879+14A>G
NM_018249.6(CDK5RAP2):c.879+26G>T rs41305509
NM_018249.6(CDK5RAP2):c.880-14C>G
NM_018249.6(CDK5RAP2):c.882A>T (p.Ala294=)
NM_018249.6(CDK5RAP2):c.895C>T (p.Leu299=)
NM_018249.6(CDK5RAP2):c.923_924insCT (p.Thr308_Glu309insTer)
NM_018249.6(CDK5RAP2):c.946A>G (p.Arg316Gly) rs751915140
NM_018249.6(CDK5RAP2):c.976G>T (p.Ala326Ser)
NM_018249.6(CDK5RAP2):c.999+10A>G
NM_018249.6(CDK5RAP2):c.999+277AT[6] rs112373921

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