ClinVar Miner

List of variants in gene CDK5RAP2 reported by Invitae

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Gene type:
ClinVar version:
Total variants: 411
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HGVS dbSNP gnomAD frequency
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475 0.09053
NM_018249.6(CDK5RAP2):c.480A>C (p.Leu160=) rs3750494 0.07110
NM_018249.6(CDK5RAP2):c.3065G>A (p.Gly1022Glu) rs34523498 0.02942
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=) rs3739822 0.02551
NM_018249.6(CDK5RAP2):c.1093-14G>A rs75029577 0.02140
NM_018249.6(CDK5RAP2):c.4821G>C (p.Arg1607Ser) rs16909747 0.01549
NM_018249.6(CDK5RAP2):c.880-7A>G rs76132121 0.01314
NM_018249.6(CDK5RAP2):c.307-4G>A rs7030969 0.00860
NM_018249.6(CDK5RAP2):c.1712T>C (p.Leu571Pro) rs41296081 0.00774
NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met) rs114128928 0.00612
NM_018249.6(CDK5RAP2):c.3666A>G (p.Gln1222=) rs77925703 0.00537
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.2655C>G (p.Phe885Leu) rs112600265 0.00333
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.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.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.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.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.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.2641G>A (p.Asp881Asn) rs766761953 0.00007
NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs) rs747831095 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.3265T>C (p.Ser1089Pro) rs138526640 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.128-10C>G rs369751106 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.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.4497C>A (p.Ala1499=) rs886063393 0.00003
NM_018249.6(CDK5RAP2):c.5362C>A (p.Leu1788Met) rs375896806 0.00003
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.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.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.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.5412A>C (p.Ser1804=) rs919150866 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
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.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.1093-15T>C
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.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.1292A>G (p.Lys431Arg)
NM_018249.6(CDK5RAP2):c.1309C>T (p.Arg437Cys)
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.1378C>T (p.Arg460Cys)
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.1626+18T>A
NM_018249.6(CDK5RAP2):c.1627-14A>G
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.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.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.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.1968+16T>G
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.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.2193G>A (p.Gln731=)
NM_018249.6(CDK5RAP2):c.2231G>A (p.Cys744Tyr)
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.2301C>T (p.Cys767=)
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.2490A>G (p.Lys830=)
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.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.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.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.2905T>C (p.Leu969=)
NM_018249.6(CDK5RAP2):c.2914C>T (p.Gln972Ter)
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.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>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.3150C>G (p.Asp1050Glu)
NM_018249.6(CDK5RAP2):c.3194G>A (p.Cys1065Tyr)
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.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.3578T>G (p.Met1193Arg)
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.3722+14C>T
NM_018249.6(CDK5RAP2):c.3722+18C>T
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.3812G>A (p.Arg1271His)
NM_018249.6(CDK5RAP2):c.3828C>T (p.Thr1276=)
NM_018249.6(CDK5RAP2):c.383C>G (p.Ser128Cys) rs758009123
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.4005-3A>G
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.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.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.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.4298-4A>G
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.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.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.4605-3C>G
NM_018249.6(CDK5RAP2):c.4608G>T (p.Val1536=)
NM_018249.6(CDK5RAP2):c.4618G>T (p.Val1540Leu)
NM_018249.6(CDK5RAP2):c.4689G>A (p.Ala1563=)
NM_018249.6(CDK5RAP2):c.4726+5T>A
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.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.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.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.5257A>G (p.Ile1753Val)
NM_018249.6(CDK5RAP2):c.5307+6C>T
NM_018249.6(CDK5RAP2):c.5308-11C>T
NM_018249.6(CDK5RAP2):c.530A>T (p.Glu177Val)
NM_018249.6(CDK5RAP2):c.531A>G (p.Glu177=)
NM_018249.6(CDK5RAP2):c.5364G>A (p.Leu1788=)
NM_018249.6(CDK5RAP2):c.5388G>C (p.Arg1796=) rs1447614166
NM_018249.6(CDK5RAP2):c.5436C>T (p.Pro1812=)
NM_018249.6(CDK5RAP2):c.5452-11C>T
NM_018249.6(CDK5RAP2):c.5452-30_5452-3del
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.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.5579-15T>G
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.5626-18T>C
NM_018249.6(CDK5RAP2):c.5626-5C>T
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.726G>A (p.Glu242=)
NM_018249.6(CDK5RAP2):c.727G>T (p.Glu243Ter)
NM_018249.6(CDK5RAP2):c.825+11A>G
NM_018249.6(CDK5RAP2):c.825+17T>C
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.880-14C>G
NM_018249.6(CDK5RAP2):c.882A>T (p.Ala294=)
NM_018249.6(CDK5RAP2):c.923_924insCT (p.Thr308_Glu309insTer)
NM_018249.6(CDK5RAP2):c.976G>T (p.Ala326Ser)
NM_018249.6(CDK5RAP2):c.999+10A>G

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