ClinVar Miner

List of variants in gene CDK5RAP2 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 367
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HGVS dbSNP gnomAD frequency
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.5454T>G (p.Ile1818Met) rs114128928 0.00612
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.34G>C (p.Val12Leu) rs146839668 0.00224
NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=) rs144723485 0.00150
NM_018249.6(CDK5RAP2):c.412G>A (p.Gly138Ser) rs61756286 0.00127
NM_018249.6(CDK5RAP2):c.-159G>A rs554211842 0.00115
NM_018249.6(CDK5RAP2):c.3558C>T (p.Leu1186=) rs146736925 0.00110
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.-172C>T rs781380022 0.00074
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.4733C>T (p.Ser1578Leu) rs138510304 0.00063
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.2602C>G (p.Leu868Val) rs142340223 0.00047
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.703G>A (p.Ala235Thr) rs142783338 0.00025
NM_018249.6(CDK5RAP2):c.*47C>T rs371900717 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.3679A>T (p.Ile1227Phe) rs139203975 0.00019
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.5121G>A (p.Pro1707=) rs748889605 0.00011
NM_018249.6(CDK5RAP2):c.1627-9C>A rs773227041 0.00010
NM_018249.6(CDK5RAP2):c.2645T>C (p.Leu882Pro) rs367620982 0.00010
NM_018249.6(CDK5RAP2):c.1192C>T (p.Arg398Cys) rs760516442 0.00009
NM_018249.6(CDK5RAP2):c.1382A>G (p.Tyr461Cys) rs140513883 0.00009
NM_018249.6(CDK5RAP2):c.2482A>G (p.Lys828Glu) rs549081765 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.2633C>T (p.Thr878Met) rs112982005 0.00008
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.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.817G>A (p.Glu273Lys) rs772591394 0.00006
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.1139C>T (p.Ser380Leu) rs376412750 0.00004
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.2087C>T (p.Ala696Val) rs369208545 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.4673G>A (p.Arg1558Gln) rs377338416 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.-154C>T rs886063403 0.00003
NM_018249.6(CDK5RAP2):c.3859G>T (p.Ala1287Ser) rs587783386 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.4822A>G (p.Ser1608Gly) rs372057183 0.00003
NM_018249.6(CDK5RAP2):c.507+5G>C rs370988646 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.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.4310T>C (p.Ile1437Thr) rs375065457 0.00002
NM_018249.6(CDK5RAP2):c.5222T>C (p.Ile1741Thr) rs754398195 0.00002
NM_018249.6(CDK5RAP2):c.*211C>G rs1052092231 0.00001
NM_018249.6(CDK5RAP2):c.108T>C (p.Asn36=) rs760045017 0.00001
NM_018249.6(CDK5RAP2):c.1094G>A (p.Gly365Glu) rs370145364 0.00001
NM_018249.6(CDK5RAP2):c.1433T>C (p.Val478Ala) rs587783382 0.00001
NM_018249.6(CDK5RAP2):c.1454G>T (p.Ser485Ile) rs1245240153 0.00001
NM_018249.6(CDK5RAP2):c.1627-18G>T rs762782636 0.00001
NM_018249.6(CDK5RAP2):c.2050A>G (p.Met684Val) rs146216763 0.00001
NM_018249.6(CDK5RAP2):c.2546T>C (p.Leu849Pro) rs372113501 0.00001
NM_018249.6(CDK5RAP2):c.2571A>G (p.Leu857=) rs562717417 0.00001
NM_018249.6(CDK5RAP2):c.2573T>G (p.Val858Gly) rs771627748 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.3997A>C (p.Met1333Leu) rs2034639358 0.00001
NM_018249.6(CDK5RAP2):c.4005G>A (p.Arg1335=) rs760335021 0.00001
NM_018249.6(CDK5RAP2):c.4556A>G (p.Asn1519Ser) rs747762605 0.00001
NM_018249.6(CDK5RAP2):c.4579C>T (p.Arg1527Cys) rs768629906 0.00001
NM_018249.6(CDK5RAP2):c.4962C>T (p.His1654=) rs764342492 0.00001
NM_018249.6(CDK5RAP2):c.506A>C (p.Lys169Thr) rs535816514 0.00001
NM_018249.6(CDK5RAP2):c.5141C>T (p.Thr1714Ile) rs1399085671 0.00001
NM_018249.6(CDK5RAP2):c.5413C>T (p.Leu1805Phe) rs545543130 0.00001
NM_018249.6(CDK5RAP2):c.5641G>C (p.Ala1881Pro) rs766759076 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.749C>T (p.Pro250Leu) rs568558844 0.00001
NM_018249.6(CDK5RAP2):c.764C>T (p.Ser255Leu) rs35199933 0.00001
GRCh37/hg19 9q33.2(chr9:123227720-123284486)x1
GRCh37/hg19 9q33.2(chr9:123292273-123314123)x1
NM_018249.6(CDK5RAP2):c.*30T>A rs2031680606
NM_018249.6(CDK5RAP2):c.*311C>T rs2031650568
NM_018249.6(CDK5RAP2):c.*331A>T rs2031647370
NM_018249.6(CDK5RAP2):c.-111A>G rs886063401
NM_018249.6(CDK5RAP2):c.-151C>A rs886063402
NM_018249.6(CDK5RAP2):c.-156G>A rs2043192715
NM_018249.6(CDK5RAP2):c.-185C>G rs536243883
NM_018249.6(CDK5RAP2):c.-3G>C rs932975
NM_018249.6(CDK5RAP2):c.-58G>T rs567847377
NM_018249.6(CDK5RAP2):c.-93G>A rs2043189404
NM_018249.6(CDK5RAP2):c.1001T>C (p.Val334Ala)
NM_018249.6(CDK5RAP2):c.1021A>G (p.Ile341Val)
NM_018249.6(CDK5RAP2):c.1097C>A (p.Ser366Tyr)
NM_018249.6(CDK5RAP2):c.1106A>G (p.Tyr369Cys)
NM_018249.6(CDK5RAP2):c.1111A>G (p.Thr371Ala)
NM_018249.6(CDK5RAP2):c.1118T>C (p.Leu373Pro)
NM_018249.6(CDK5RAP2):c.1151G>A (p.Arg384His)
NM_018249.6(CDK5RAP2):c.1154C>T (p.Ser385Leu)
NM_018249.6(CDK5RAP2):c.1161C>G (p.Asn387Lys)
NM_018249.6(CDK5RAP2):c.1183C>T (p.His395Tyr) rs587783380
NM_018249.6(CDK5RAP2):c.1199G>A (p.Ser400Asn)
NM_018249.6(CDK5RAP2):c.1239G>T (p.Gln413His) rs886063400
NM_018249.6(CDK5RAP2):c.127+4_127+7del
NM_018249.6(CDK5RAP2):c.1292A>G (p.Lys431Arg)
NM_018249.6(CDK5RAP2):c.1294G>A (p.Gly432Arg) rs886063399
NM_018249.6(CDK5RAP2):c.1309C>T (p.Arg437Cys)
NM_018249.6(CDK5RAP2):c.1339C>T (p.Arg447Cys)
NM_018249.6(CDK5RAP2):c.1343A>G (p.Asn448Ser)
NM_018249.6(CDK5RAP2):c.134C>T (p.Pro45Leu) rs2042723087
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.1471G>C (p.Val491Leu)
NM_018249.6(CDK5RAP2):c.1498G>C (p.Asp500His)
NM_018249.6(CDK5RAP2):c.1550A>T (p.Glu517Val)
NM_018249.6(CDK5RAP2):c.1649A>G (p.Tyr550Cys)
NM_018249.6(CDK5RAP2):c.1654_1655delinsTT (p.Glu552Leu) rs2131564281
NM_018249.6(CDK5RAP2):c.1657C>A (p.Leu553Met) rs886063398
NM_018249.6(CDK5RAP2):c.1709C>A (p.Ser570Tyr)
NM_018249.6(CDK5RAP2):c.1709C>G (p.Ser570Cys) rs886063397
NM_018249.6(CDK5RAP2):c.1727+6C>G
NM_018249.6(CDK5RAP2):c.172C>T (p.Arg58Trp)
NM_018249.6(CDK5RAP2):c.173G>A (p.Arg58Gln)
NM_018249.6(CDK5RAP2):c.1740G>A (p.Leu580=) rs2037726566
NM_018249.6(CDK5RAP2):c.1771C>T (p.Arg591Trp)
NM_018249.6(CDK5RAP2):c.1808A>T (p.Asn603Ile)
NM_018249.6(CDK5RAP2):c.1846C>G (p.Arg616Gly)
NM_018249.6(CDK5RAP2):c.1846C>T (p.Arg616Trp)
NM_018249.6(CDK5RAP2):c.1852C>T (p.Arg618Trp)
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.1906T>G (p.Cys636Gly) rs797045442
NM_018249.6(CDK5RAP2):c.190G>A (p.Glu64Lys)
NM_018249.6(CDK5RAP2):c.1922A>G (p.Asn641Ser)
NM_018249.6(CDK5RAP2):c.1924C>T (p.Arg642Trp)
NM_018249.6(CDK5RAP2):c.195T>A (p.Asn65Lys) rs897322102
NM_018249.6(CDK5RAP2):c.1973G>A (p.Ser658Asn)
NM_018249.6(CDK5RAP2):c.2045C>T (p.Ser682Phe)
NM_018249.6(CDK5RAP2):c.2059C>A (p.Gln687Lys)
NM_018249.6(CDK5RAP2):c.2065A>G (p.Asn689Asp)
NM_018249.6(CDK5RAP2):c.2102C>T (p.Thr701Ile)
NM_018249.6(CDK5RAP2):c.2144T>C (p.Ile715Thr)
NM_018249.6(CDK5RAP2):c.2149G>A (p.Glu717Lys) rs886063396
NM_018249.6(CDK5RAP2):c.2168T>G (p.Phe723Cys)
NM_018249.6(CDK5RAP2):c.2203-2A>T
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.2288A>G (p.His763Arg) rs2036910484
NM_018249.6(CDK5RAP2):c.2290G>A (p.Ala764Thr)
NM_018249.6(CDK5RAP2):c.2290G>C (p.Ala764Pro)
NM_018249.6(CDK5RAP2):c.2376G>T (p.Arg792Ser)
NM_018249.6(CDK5RAP2):c.2398C>T (p.Arg800Trp)
NM_018249.6(CDK5RAP2):c.2399G>A (p.Arg800Gln)
NM_018249.6(CDK5RAP2):c.241A>G (p.Ile81Val)
NM_018249.6(CDK5RAP2):c.245A>G (p.Tyr82Cys)
NM_018249.6(CDK5RAP2):c.2544A>G (p.Glu848=) rs562215641
NM_018249.6(CDK5RAP2):c.2561A>C (p.Glu854Ala)
NM_018249.6(CDK5RAP2):c.2611G>A (p.Ala871Thr)
NM_018249.6(CDK5RAP2):c.2648T>G (p.Leu883Arg)
NM_018249.6(CDK5RAP2):c.2665G>A (p.Ala889Thr)
NM_018249.6(CDK5RAP2):c.267A>C (p.Gln89His) rs2042016578
NM_018249.6(CDK5RAP2):c.2722C>T (p.Arg908Trp)
NM_018249.6(CDK5RAP2):c.2749G>C (p.Gly917Arg)
NM_018249.6(CDK5RAP2):c.2788A>T (p.Asn930Tyr) rs1347787448
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.284C>A (p.Pro95His) rs569172233
NM_018249.6(CDK5RAP2):c.2852T>C (p.Met951Thr)
NM_018249.6(CDK5RAP2):c.2852T>G (p.Met951Arg) rs143361777
NM_018249.6(CDK5RAP2):c.2992G>A (p.Gly998Arg)
NM_018249.6(CDK5RAP2):c.3004C>G (p.Pro1002Ala)
NM_018249.6(CDK5RAP2):c.3055G>A (p.Asp1019Asn)
NM_018249.6(CDK5RAP2):c.3069G>C (p.Glu1023Asp)
NM_018249.6(CDK5RAP2):c.3092C>T (p.Ser1031Phe)
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.3160T>C (p.Cys1054Arg)
NM_018249.6(CDK5RAP2):c.3194G>A (p.Cys1065Tyr)
NM_018249.6(CDK5RAP2):c.3208G>C (p.Glu1070Gln)
NM_018249.6(CDK5RAP2):c.3249T>A (p.Ser1083Arg)
NM_018249.6(CDK5RAP2):c.3285G>C (p.Met1095Ile) rs587783385
NM_018249.6(CDK5RAP2):c.3317C>T (p.Ser1106Leu)
NM_018249.6(CDK5RAP2):c.3388A>G (p.Ile1130Val)
NM_018249.6(CDK5RAP2):c.343C>T (p.Arg115Trp)
NM_018249.6(CDK5RAP2):c.3481A>G (p.Lys1161Glu)
NM_018249.6(CDK5RAP2):c.3538G>A (p.Val1180Met)
NM_018249.6(CDK5RAP2):c.3562C>T (p.Pro1188Ser)
NM_018249.6(CDK5RAP2):c.3564G>A (p.Pro1188=)
NM_018249.6(CDK5RAP2):c.3578T>G (p.Met1193Arg)
NM_018249.6(CDK5RAP2):c.3580A>G (p.Ile1194Val)
NM_018249.6(CDK5RAP2):c.3635A>T (p.Lys1212Met)
NM_018249.6(CDK5RAP2):c.3688C>G (p.Leu1230Val)
NM_018249.6(CDK5RAP2):c.3722+14C>G rs748675436
NM_018249.6(CDK5RAP2):c.3723-8T>C rs1554743047
NM_018249.6(CDK5RAP2):c.3727G>A (p.Asp1243Asn)
NM_018249.6(CDK5RAP2):c.3734T>C (p.Leu1245Ser)
NM_018249.6(CDK5RAP2):c.373A>T (p.Ile125Phe)
NM_018249.6(CDK5RAP2):c.374T>C (p.Ile125Thr)
NM_018249.6(CDK5RAP2):c.3763C>T (p.Leu1255Phe)
NM_018249.6(CDK5RAP2):c.376A>C (p.Lys126Gln) rs1247866599
NM_018249.6(CDK5RAP2):c.377A>G (p.Lys126Arg)
NM_018249.6(CDK5RAP2):c.37C>T (p.Pro13Ser)
NM_018249.6(CDK5RAP2):c.3812G>A (p.Arg1271His)
NM_018249.6(CDK5RAP2):c.383C>G (p.Ser128Cys) rs758009123
NM_018249.6(CDK5RAP2):c.383C>T (p.Ser128Phe) rs758009123
NM_018249.6(CDK5RAP2):c.3847G>A (p.Glu1283Lys)
NM_018249.6(CDK5RAP2):c.3848A>T (p.Glu1283Val)
NM_018249.6(CDK5RAP2):c.391G>T (p.Val131Phe)
NM_018249.6(CDK5RAP2):c.3940A>G (p.Lys1314Glu) rs2131314540
NM_018249.6(CDK5RAP2):c.3955+20C>T
NM_018249.6(CDK5RAP2):c.3965T>A (p.Val1322Asp)
NM_018249.6(CDK5RAP2):c.4005-10A>G rs886063395
NM_018249.6(CDK5RAP2):c.4005-3A>G
NM_018249.6(CDK5RAP2):c.4036C>T (p.Leu1346Phe)
NM_018249.6(CDK5RAP2):c.4039_4041delinsGTA (p.Leu1347Val) rs1554734754
NM_018249.6(CDK5RAP2):c.4052C>T (p.Pro1351Leu)
NM_018249.6(CDK5RAP2):c.4055A>G (p.Glu1352Gly) rs587783388
NM_018249.6(CDK5RAP2):c.4105T>C (p.Phe1369Leu)
NM_018249.6(CDK5RAP2):c.410C>T (p.Ala137Val)
NM_018249.6(CDK5RAP2):c.4123A>C (p.Lys1375Gln) rs2034458820
NM_018249.6(CDK5RAP2):c.4129G>A (p.Asp1377Asn)
NM_018249.6(CDK5RAP2):c.4156A>G (p.Met1386Val)
NM_018249.6(CDK5RAP2):c.418T>C (p.Ser140Pro)
NM_018249.6(CDK5RAP2):c.4207C>G (p.Arg1403Gly)
NM_018249.6(CDK5RAP2):c.4208G>A (p.Arg1403Gln)
NM_018249.6(CDK5RAP2):c.4222C>G (p.Arg1408Gly)
NM_018249.6(CDK5RAP2):c.4222C>T (p.Arg1408Cys) rs151259479
NM_018249.6(CDK5RAP2):c.4228G>A (p.Glu1410Lys) rs1588273804
NM_018249.6(CDK5RAP2):c.4237A>G (p.Ile1413Val)
NM_018249.6(CDK5RAP2):c.4269G>C (p.Leu1423Phe)
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.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.4442G>A (p.Arg1481Gln)
NM_018249.6(CDK5RAP2):c.4445A>T (p.Glu1482Val) rs587783391
NM_018249.6(CDK5RAP2):c.4476G>T (p.Glu1492Asp) rs2033694230
NM_018249.6(CDK5RAP2):c.4486C>T (p.Arg1496Trp)
NM_018249.6(CDK5RAP2):c.4487G>A (p.Arg1496Gln)
NM_018249.6(CDK5RAP2):c.4501G>A (p.Val1501Met)
NM_018249.6(CDK5RAP2):c.4594_4595delinsAT (p.Glu1532Met)
NM_018249.6(CDK5RAP2):c.459G>A (p.Val153=) rs1085307847
NM_018249.6(CDK5RAP2):c.4605-13G>T rs753263727
NM_018249.6(CDK5RAP2):c.4605-3C>G
NM_018249.6(CDK5RAP2):c.4618G>T (p.Val1540Leu)
NM_018249.6(CDK5RAP2):c.4681C>G (p.Leu1561Val)
NM_018249.6(CDK5RAP2):c.4726+5T>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.4781T>G (p.Leu1594Arg)
NM_018249.6(CDK5RAP2):c.47T>C (p.Leu16Pro)
NM_018249.6(CDK5RAP2):c.4805G>A (p.Arg1602His)
NM_018249.6(CDK5RAP2):c.485A>G (p.Lys162Arg)
NM_018249.6(CDK5RAP2):c.4876G>C (p.Gly1626Arg)
NM_018249.6(CDK5RAP2):c.4945C>T (p.Leu1649Phe)
NM_018249.6(CDK5RAP2):c.4949A>C (p.Gln1650Pro)
NM_018249.6(CDK5RAP2):c.4973A>G (p.Lys1658Arg)
NM_018249.6(CDK5RAP2):c.5049G>A (p.Glu1683=) rs886063392
NM_018249.6(CDK5RAP2):c.5061C>G (p.Leu1687=) rs886063391
NM_018249.6(CDK5RAP2):c.5075C>T (p.Thr1692Met)
NM_018249.6(CDK5RAP2):c.5120C>T (p.Pro1707Leu)
NM_018249.6(CDK5RAP2):c.5125G>C (p.Val1709Leu)
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.5167A>G (p.Asn1723Asp) rs886063390
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.5235G>C (p.Gln1745His) rs886063389
NM_018249.6(CDK5RAP2):c.5257A>G (p.Ile1753Val)
NM_018249.6(CDK5RAP2):c.5307+6C>T
NM_018249.6(CDK5RAP2):c.530A>T (p.Glu177Val)
NM_018249.6(CDK5RAP2):c.5318C>T (p.Pro1773Leu) rs148857536
NM_018249.6(CDK5RAP2):c.533T>C (p.Leu178Pro) rs587783394
NM_018249.6(CDK5RAP2):c.5359A>C (p.Lys1787Gln) rs587783395
NM_018249.6(CDK5RAP2):c.5386C>T (p.Arg1796Trp)
NM_018249.6(CDK5RAP2):c.541G>T (p.Ala181Ser)
NM_018249.6(CDK5RAP2):c.5448G>A (p.Glu1816=) rs587783396
NM_018249.6(CDK5RAP2):c.5452-30_5452-3del
NM_018249.6(CDK5RAP2):c.5452-8C>T
NM_018249.6(CDK5RAP2):c.547G>C (p.Ala183Pro) rs13287734
NM_018249.6(CDK5RAP2):c.550G>A (p.Gly184Arg)
NM_018249.6(CDK5RAP2):c.5513A>C (p.Lys1838Thr)
NM_018249.6(CDK5RAP2):c.5516T>C (p.Leu1839Ser)
NM_018249.6(CDK5RAP2):c.5566A>G (p.Ile1856Val)
NM_018249.6(CDK5RAP2):c.5603G>T (p.Arg1868Leu)
NM_018249.6(CDK5RAP2):c.560C>T (p.Thr187Met)
NM_018249.6(CDK5RAP2):c.5626C>G (p.Leu1876Val)
NM_018249.6(CDK5RAP2):c.5626del (p.Arg1877fs)
NM_018249.6(CDK5RAP2):c.5647C>T (p.Pro1883Ser)
NM_018249.6(CDK5RAP2):c.568G>C (p.Ala190Pro)
NM_018249.6(CDK5RAP2):c.589A>G (p.Ser197Gly)
NM_018249.6(CDK5RAP2):c.660C>A (p.Asp220Glu)
NM_018249.6(CDK5RAP2):c.662+5G>A
NM_018249.6(CDK5RAP2):c.66T>C (p.Leu22=) rs797045443
NM_018249.6(CDK5RAP2):c.691A>G (p.Lys231Glu)
NM_018249.6(CDK5RAP2):c.761T>C (p.Val254Ala) rs777129747
NM_018249.6(CDK5RAP2):c.857A>G (p.Asn286Ser)
NM_018249.6(CDK5RAP2):c.881C>T (p.Ala294Val) rs757203397
NM_018249.6(CDK5RAP2):c.887A>T (p.Glu296Val)
NM_018249.6(CDK5RAP2):c.946A>G (p.Arg316Gly) rs751915140
NM_018249.6(CDK5RAP2):c.976G>T (p.Ala326Ser)

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