ClinVar Miner

List of variants in gene CPLANE1 studied for Joubert syndrome 17

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 281
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99994
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911 0.17594
NM_001384732.1(CPLANE1):c.5901-3T>C rs10805625 0.15103
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774 0.10422
NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652 0.04935
NM_001384732.1(CPLANE1):c.378G>A (p.Gly126=) rs73750958 0.03087
NM_001384732.1(CPLANE1):c.5343A>T (p.Thr1781=) rs73750949 0.02942
NM_001384732.1(CPLANE1):c.94G>A (p.Val32Ile) rs73750959 0.02866
NM_001384732.1(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147 0.02316
NM_001384732.1(CPLANE1):c.9346G>A (p.Gly3116Arg) rs7702892 0.02310
NM_001384732.1(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518 0.02308
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758 0.02238
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=) rs115435816 0.01890
NM_001384732.1(CPLANE1):c.*889A>G rs75549748 0.01830
NM_001384732.1(CPLANE1):c.5900+7G>T rs78315844 0.01816
NM_001384732.1(CPLANE1):c.*641C>T rs116744214 0.01809
NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173 0.01809
NM_001384732.1(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186 0.01627
NM_001384732.1(CPLANE1):c.3795T>A (p.Val1265=) rs74478954 0.01626
NM_001384732.1(CPLANE1):c.3240C>T (p.Ala1080=) rs28514632 0.01487
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=) rs61745362 0.01450
NM_001384732.1(CPLANE1):c.1737G>A (p.Ala579=) rs13356183 0.01427
NM_001384732.1(CPLANE1):c.8664-3A>T rs58401892 0.01389
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192 0.00645
NM_001384732.1(CPLANE1):c.*396T>C rs115541718 0.00638
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028 0.00635
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778 0.00526
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_001384732.1(CPLANE1):c.*807A>G rs78011227 0.00418
NM_001384732.1(CPLANE1):c.4719C>T (p.Asp1573=) rs143084362 0.00368
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=) rs16903511 0.00353
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=) rs16903514 0.00352
NM_023073.3(CPLANE1):c.*1369C>A rs116197379 0.00344
NM_001384732.1(CPLANE1):c.*518T>C rs556117030 0.00315
NM_001384732.1(CPLANE1):c.7234-7C>G rs141575785 0.00285
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr) rs111294855 0.00212
NM_001384732.1(CPLANE1):c.9093A>G (p.Ser3031=) rs141014620 0.00190
NM_001384732.1(CPLANE1):c.765A>C (p.Gly255=) rs117995360 0.00189
NM_001384732.1(CPLANE1):c.5738-6C>T rs148634159 0.00186
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282 0.00175
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=) rs148005445 0.00167
NM_001384732.1(CPLANE1):c.1755A>G (p.Ser585=) rs186970259 0.00113
NM_001384732.1(CPLANE1):c.8374-15G>A rs74881219 0.00111
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149 0.00109
NM_001384732.1(CPLANE1):c.*642G>A rs543018376 0.00108
NM_001384732.1(CPLANE1):c.8711A>G (p.Asp2904Gly) rs144427399 0.00106
NM_001384732.1(CPLANE1):c.*714T>A rs191724705 0.00105
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326 0.00104
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00090
NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg) rs144081297 0.00090
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487 0.00087
NM_001384732.1(CPLANE1):c.1883G>A (p.Arg628Lys) rs74975451 0.00076
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001384732.1(CPLANE1):c.*18G>T rs200332492 0.00053
NM_001384732.1(CPLANE1):c.6328A>G (p.Asn2110Asp) rs139528477 0.00053
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys) rs147588579 0.00048
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu) rs147426388 0.00046
NM_001384732.1(CPLANE1):c.7920C>T (p.Ser2640=) rs141486731 0.00045
NM_001384732.1(CPLANE1):c.8580C>T (p.Ala2860=) rs145347771 0.00044
NM_001384732.1(CPLANE1):c.4954C>T (p.Leu1652=) rs141109938 0.00043
NM_001384732.1(CPLANE1):c.8175A>C (p.Ala2725=) rs201122718 0.00042
NM_001384732.1(CPLANE1):c.1116G>A (p.Thr372=) rs551066377 0.00041
NM_001384732.1(CPLANE1):c.6860G>A (p.Ser2287Asn) rs147451628 0.00039
NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val) rs191239995 0.00036
NM_001384732.1(CPLANE1):c.9016A>G (p.Arg3006Gly) rs116198390 0.00036
NM_001384732.1(CPLANE1):c.*833T>C rs553022771 0.00031
NM_001384732.1(CPLANE1):c.5820+7C>T rs185534019 0.00031
NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser) rs150999024 0.00031
NM_001384732.1(CPLANE1):c.7596A>G (p.Leu2532=) rs201502145 0.00029
NM_001384732.1(CPLANE1):c.3447A>G (p.Pro1149=) rs141425550 0.00024
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782 0.00023
NM_001384732.1(CPLANE1):c.7616C>T (p.Ala2539Val) rs150595284 0.00022
NM_001384732.1(CPLANE1):c.4074C>T (p.Ile1358=) rs145018253 0.00021
NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val) rs139496915 0.00019
NM_001384732.1(CPLANE1):c.626A>G (p.Lys209Arg) rs770630520 0.00019
NM_001384732.1(CPLANE1):c.82-14G>A rs180804052 0.00019
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275 0.00019
NM_001384732.1(CPLANE1):c.3812-5T>G rs375780513 0.00018
NM_001384732.1(CPLANE1):c.1096C>T (p.Pro366Ser) rs376489487 0.00016
NM_001384732.1(CPLANE1):c.1655C>T (p.Thr552Met) rs77739540 0.00014
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_001384732.1(CPLANE1):c.7298T>C (p.Leu2433Pro) rs372655878 0.00014
NM_001384732.1(CPLANE1):c.8908G>A (p.Ala2970Thr) rs369585190 0.00013
NM_001384732.1(CPLANE1):c.*872A>C rs886060568 0.00011
NM_001384732.1(CPLANE1):c.1872C>T (p.Ser624=) rs886060582 0.00011
NM_001384732.1(CPLANE1):c.4953A>G (p.Val1651=) rs373122844 0.00011
NM_001384732.1(CPLANE1):c.*408G>A rs145945346 0.00010
NM_001384732.1(CPLANE1):c.3747C>T (p.Ile1249=) rs145484347 0.00010
NM_001384732.1(CPLANE1):c.5593A>C (p.Asn1865His) rs199524299 0.00010
NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys) rs144969169 0.00009
NM_001384732.1(CPLANE1):c.6512G>A (p.Arg2171Gln) rs377742483 0.00009
NM_001384732.1(CPLANE1):c.*813A>G rs187198752 0.00008
NM_001384732.1(CPLANE1):c.8474C>T (p.Thr2825Ile) rs142316931 0.00008
NM_001384732.1(CPLANE1):c.9031G>A (p.Glu3011Lys) rs200358545 0.00008
NM_001384732.1(CPLANE1):c.9524C>T (p.Thr3175Met) rs587783354 0.00008
NM_001384732.1(CPLANE1):c.3428G>A (p.Arg1143Lys) rs377503881 0.00007
NM_001384732.1(CPLANE1):c.3676C>T (p.Arg1226Ter) rs749421099 0.00007
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_001384732.1(CPLANE1):c.9155C>G (p.Ser3052Cys) rs557372169 0.00007
NM_001384732.1(CPLANE1):c.*1318A>G rs145399031 0.00006
NM_001384732.1(CPLANE1):c.1123C>T (p.Pro375Ser) rs774016809 0.00006
NM_001384732.1(CPLANE1):c.1680G>A (p.Glu560=) rs749473632 0.00006
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572 0.00006
NM_001384732.1(CPLANE1):c.2377C>T (p.Gln793Ter) rs776886962 0.00006
NM_001384732.1(CPLANE1):c.2831G>A (p.Arg944His) rs863225165 0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596 0.00006
NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His) rs771622959 0.00006
NM_001384732.1(CPLANE1):c.9252G>A (p.Pro3084=) rs371595122 0.00006
NM_001384732.1(CPLANE1):c.5311T>C (p.Tyr1771His) rs748355456 0.00005
NM_001384732.1(CPLANE1):c.7099A>G (p.Lys2367Glu) rs778278672 0.00005
NM_001384732.1(CPLANE1):c.8197C>T (p.Arg2733Trp) rs142792453 0.00005
NM_001384732.1(CPLANE1):c.8674C>T (p.His2892Tyr) rs201404524 0.00005
NM_001384732.1(CPLANE1):c.9386T>C (p.Val3129Ala) rs1347117644 0.00005
NM_001384732.1(CPLANE1):c.1136C>T (p.Thr379Met) rs373606997 0.00004
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302 0.00004
NM_001384732.1(CPLANE1):c.1312C>T (p.Leu438Phe) rs774184345 0.00004
NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter) rs863225163 0.00004
NM_001384732.1(CPLANE1):c.2611C>T (p.Arg871Cys) rs760906097 0.00004
NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys) rs1012462823 0.00004
NM_001384732.1(CPLANE1):c.4054A>G (p.Ile1352Val) rs146808769 0.00004
NM_001384732.1(CPLANE1):c.6123G>A (p.Ser2041=) rs369977822 0.00004
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala) rs370118778 0.00004
NM_001384732.1(CPLANE1):c.7764G>A (p.Met2588Ile) rs760750533 0.00004
NM_001384732.1(CPLANE1):c.8514T>C (p.Thr2838=) rs760623510 0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter) rs141507441 0.00004
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter) rs150242262 0.00004
NM_001384732.1(CPLANE1):c.9063C>T (p.Tyr3021=) rs377142277 0.00004
NM_001384732.1(CPLANE1):c.1055C>T (p.Thr352Ile) rs1443893630 0.00003
NM_001384732.1(CPLANE1):c.1745T>C (p.Ile582Thr) rs1260722151 0.00003
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_001384732.1(CPLANE1):c.2428T>G (p.Cys810Gly) rs886060581 0.00003
NM_001384732.1(CPLANE1):c.2923C>T (p.Gln975Ter) rs863225166 0.00003
NM_001384732.1(CPLANE1):c.3090G>A (p.Thr1030=) rs768564404 0.00003
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168 0.00003
NM_001384732.1(CPLANE1):c.5733T>G (p.Tyr1911Ter) rs770770257 0.00003
NM_001384732.1(CPLANE1):c.7331G>A (p.Gly2444Glu) rs751548147 0.00003
NM_001384732.1(CPLANE1):c.9263A>G (p.His3088Arg) rs547370426 0.00003
NM_001384732.1(CPLANE1):c.9633dup (p.Val3212fs) rs765432713 0.00003
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met) rs373704405 0.00003
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe) rs372187548 0.00002
NM_001384732.1(CPLANE1):c.3450C>T (p.Phe1150=) rs200449169 0.00002
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427 0.00002
NM_001384732.1(CPLANE1):c.3595C>T (p.Arg1199Trp) rs374075447 0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_001384732.1(CPLANE1):c.4248G>A (p.Val1416=) rs758567108 0.00002
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063 0.00002
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162 0.00002
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter) rs147416429 0.00002
NM_001384732.1(CPLANE1):c.8791A>G (p.Arg2931Gly) rs953624404 0.00002
NM_001384732.1(CPLANE1):c.9574C>G (p.Leu3192Val) rs886060572 0.00002
NM_001384732.1(CPLANE1):c.*427G>A rs921198091 0.00001
NM_001384732.1(CPLANE1):c.*465G>A rs886060570 0.00001
NM_001384732.1(CPLANE1):c.*471A>T rs1282754215 0.00001
NM_001384732.1(CPLANE1):c.*897C>T rs369092543 0.00001
NM_001384732.1(CPLANE1):c.*94G>T rs886060571 0.00001
NM_001384732.1(CPLANE1):c.-24T>C rs1740201460 0.00001
NM_001384732.1(CPLANE1):c.1546G>A (p.Glu516Lys) rs772553650 0.00001
NM_001384732.1(CPLANE1):c.2207G>A (p.Ser736Asn) rs765826864 0.00001
NM_001384732.1(CPLANE1):c.2325A>T (p.Lys775Asn) rs1313704320 0.00001
NM_001384732.1(CPLANE1):c.2393T>A (p.Met798Lys) rs1485682690 0.00001
NM_001384732.1(CPLANE1):c.2413G>A (p.Val805Ile) rs1490492363 0.00001
NM_001384732.1(CPLANE1):c.2563C>T (p.Gln855Ter) rs1285358729 0.00001
NM_001384732.1(CPLANE1):c.2624C>T (p.Ser875Phe) rs794727154 0.00001
NM_001384732.1(CPLANE1):c.2664T>A (p.Asp888Glu) rs1287231108 0.00001
NM_001384732.1(CPLANE1):c.2885A>G (p.His962Arg) rs926554823 0.00001
NM_001384732.1(CPLANE1):c.2932C>T (p.Arg978Ter) rs1359437084 0.00001
NM_001384732.1(CPLANE1):c.2933G>A (p.Arg978Gln) rs992985282 0.00001
NM_001384732.1(CPLANE1):c.2999G>T (p.Trp1000Leu) rs773362418 0.00001
NM_001384732.1(CPLANE1):c.361T>C (p.Tyr121His) rs886060587 0.00001
NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs) rs1398880084 0.00001
NM_001384732.1(CPLANE1):c.4482-1G>T rs774492992 0.00001
NM_001384732.1(CPLANE1):c.4765C>T (p.Leu1589Phe) rs751890710 0.00001
NM_001384732.1(CPLANE1):c.4787T>C (p.Val1596Ala) rs1186525850 0.00001
NM_001384732.1(CPLANE1):c.4948T>C (p.Ser1650Pro) rs536461045 0.00001
NM_001384732.1(CPLANE1):c.5152A>G (p.Ile1718Val) rs886060578 0.00001
NM_001384732.1(CPLANE1):c.5210T>C (p.Leu1737Pro) rs781211084 0.00001
NM_001384732.1(CPLANE1):c.5422-12G>A rs1561517509 0.00001
NM_001384732.1(CPLANE1):c.6172C>G (p.Leu2058Val) rs576883816 0.00001
NM_001384732.1(CPLANE1):c.6700C>T (p.Gln2234Ter) rs1381740657 0.00001
NM_001384732.1(CPLANE1):c.7360G>A (p.Glu2454Lys) rs867750018 0.00001
NM_001384732.1(CPLANE1):c.7400+1G>A rs367543062 0.00001
NM_001384732.1(CPLANE1):c.745G>C (p.Glu249Gln) rs757197770 0.00001
NM_001384732.1(CPLANE1):c.7478G>A (p.Arg2493Gln) rs183942272 0.00001
NM_001384732.1(CPLANE1):c.7588+8T>C rs377295986 0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755 0.00001
NM_001384732.1(CPLANE1):c.7914G>A (p.Gln2638=) rs750429337 0.00001
NM_001384732.1(CPLANE1):c.7955A>G (p.His2652Arg) rs373755833 0.00001
NM_001384732.1(CPLANE1):c.817A>C (p.Asn273His) rs863225167 0.00001
NM_001384732.1(CPLANE1):c.833A>G (p.Lys278Arg) rs566588740 0.00001
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs) rs1554064102 0.00001
NM_001384732.1(CPLANE1):c.8770G>T (p.Glu2924Ter) rs863225155 0.00001
NM_001384732.1(CPLANE1):c.8858G>A (p.Trp2953Ter) rs1482303814 0.00001
NM_001384732.1(CPLANE1):c.9017+1G>A rs863225154 0.00001
NM_001384732.1(CPLANE1):c.959T>C (p.Ile320Thr) rs886060584 0.00001
NM_001384732.1(CPLANE1):c.977G>A (p.Ser326Asn) rs1229752578 0.00001
NM_001384732.1(CPLANE1):c.*40C>T rs1757860413
NM_001384732.1(CPLANE1):c.*423C>G rs190089842
NM_001384732.1(CPLANE1):c.*441A>C rs7712558
NM_001384732.1(CPLANE1):c.*661T>G rs886060569
NM_001384732.1(CPLANE1):c.1347A>G (p.Ile449Met) rs1796727512
NM_001384732.1(CPLANE1):c.1371+86_1371+87insTC rs1796703260
NM_001384732.1(CPLANE1):c.1383_1384dup (p.Gly462fs) rs1796678879
NM_001384732.1(CPLANE1):c.1817T>G (p.Phe606Cys) rs2150438911
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.190G>T (p.Val64Phe) rs965197100
NM_001384732.1(CPLANE1):c.2275C>T (p.Gln759Ter) rs863225158
NM_001384732.1(CPLANE1):c.2291+8C>T rs1454521743
NM_001384732.1(CPLANE1):c.2558C>A (p.Ala853Asp) rs886060580
NM_001384732.1(CPLANE1):c.2709G>A (p.Trp903Ter) rs863225164
NM_001384732.1(CPLANE1):c.2854_2855insCT (p.Asn952fs)
NM_001384732.1(CPLANE1):c.2949A>G (p.Gln983=)
NM_001384732.1(CPLANE1):c.3007G>T (p.Glu1003Ter) rs863225162
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
NM_001384732.1(CPLANE1):c.3101T>C (p.Ile1034Thr)
NM_001384732.1(CPLANE1):c.3130_3131insA (p.Arg1044fs) rs863225161
NM_001384732.1(CPLANE1):c.3507+1G>A rs1580686235
NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_001384732.1(CPLANE1):c.3636_3637del (p.Leu1213fs) rs863225157
NM_001384732.1(CPLANE1):c.3733T>C (p.Cys1245Arg)
NM_001384732.1(CPLANE1):c.4080G>A (p.Lys1360=)
NM_001384732.1(CPLANE1):c.4189+1G>A
NM_001384732.1(CPLANE1):c.4241T>C (p.Val1414Ala) rs2151179674
NM_001384732.1(CPLANE1):c.4481+4C>G rs769785905
NM_001384732.1(CPLANE1):c.4629T>G (p.Phe1543Leu) rs1783222163
NM_001384732.1(CPLANE1):c.4643A>G (p.Asp1548Gly) rs759649053
NM_001384732.1(CPLANE1):c.4986A>C (p.Gln1662His) rs547409263
NM_001384732.1(CPLANE1):c.5054T>C (p.Ile1685Thr) rs750439635
NM_001384732.1(CPLANE1):c.510del (p.Leu171fs) rs779680371
NM_001384732.1(CPLANE1):c.510dup (p.Leu171fs) rs779680371
NM_001384732.1(CPLANE1):c.5150G>A (p.Cys1717Tyr) rs765017990
NM_001384732.1(CPLANE1):c.523A>G (p.Thr175Ala) rs886060586
NM_001384732.1(CPLANE1):c.5413_5417del (p.Ala1804_Ile1805insTer) rs1202341886
NM_001384732.1(CPLANE1):c.5447G>C (p.Cys1816Ser) rs138639220
NM_001384732.1(CPLANE1):c.5783C>G (p.Ala1928Gly) rs190242054
NM_001384732.1(CPLANE1):c.6062C>G (p.Pro2021Arg) rs928348123
NM_001384732.1(CPLANE1):c.6114del (p.Asp2039fs)
NM_001384732.1(CPLANE1):c.6125A>C (p.Glu2042Ala) rs766565364
NM_001384732.1(CPLANE1):c.6269_6270del (p.Val2090fs) rs768675259
NM_001384732.1(CPLANE1):c.6302G>T (p.Arg2101Ile) rs771457677
NM_001384732.1(CPLANE1):c.6354dup (p.Ile2119fs) rs1188561908
NM_001384732.1(CPLANE1):c.6407del (p.Pro2136fs) rs367543064
NM_001384732.1(CPLANE1):c.6456C>T (p.Asn2152=) rs186460995
NM_001384732.1(CPLANE1):c.6519_6520del (p.Gly2174fs)
NM_001384732.1(CPLANE1):c.7020dup (p.Leu2341fs) rs2150932899
NM_001384732.1(CPLANE1):c.7095A>G (p.Pro2365=) rs886060577
NM_001384732.1(CPLANE1):c.7190del (p.Pro2397fs) rs863225156
NM_001384732.1(CPLANE1):c.7243dup (p.Thr2415fs)
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu) rs146595129
NM_001384732.1(CPLANE1):c.7378C>T (p.Gln2460Ter)
NM_001384732.1(CPLANE1):c.7417G>A (p.Glu2473Lys) rs886060576
NM_001384732.1(CPLANE1):c.7478G>T (p.Arg2493Leu) rs183942272
NM_001384732.1(CPLANE1):c.7494A>G (p.Ile2498Met) rs1778030432
NM_001384732.1(CPLANE1):c.7533G>A (p.Lys2511=) rs753791198
NM_001384732.1(CPLANE1):c.767C>A (p.Ala256Asp) rs1799919744
NM_001384732.1(CPLANE1):c.7691-107_7691-105del rs1775821411
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter) rs863225159
NM_001384732.1(CPLANE1):c.7984G>C (p.Val2662Leu) rs772274656
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs) rs730882217
NM_001384732.1(CPLANE1):c.8329C>T (p.Gln2777Ter) rs863225152
NM_001384732.1(CPLANE1):c.834+1G>A rs1581014582
NM_001384732.1(CPLANE1):c.8425dup (p.Thr2809fs) rs775263897
NM_001384732.1(CPLANE1):c.8539G>C (p.Glu2847Gln) rs886060574
NM_001384732.1(CPLANE1):c.8633-3T>A rs1561376157
NM_001384732.1(CPLANE1):c.8663+13A>C rs1768906064
NM_001384732.1(CPLANE1):c.8663+1G>T rs1580084520
NM_001384732.1(CPLANE1):c.8670A>G (p.Ser2890=) rs886060573
NM_001384732.1(CPLANE1):c.8878G>T (p.Glu2960Ter) rs863225153
NM_001384732.1(CPLANE1):c.8887del (p.Ala2963fs) rs770758833
NM_001384732.1(CPLANE1):c.8980del (p.Glu2993_Ile2994insTer)
NM_001384732.1(CPLANE1):c.9017+1G>T rs863225154
NM_001384732.1(CPLANE1):c.9148dup (p.Gln3050fs) rs1579888631
NM_001384732.1(CPLANE1):c.9180A>G (p.Pro3060=) rs1762653550
NM_001384732.1(CPLANE1):c.938+10C>G rs1308998312
NM_001384732.1(CPLANE1):c.9414G>A (p.Pro3138=) rs377707922
NM_001384732.1(CPLANE1):c.9729G>A (p.Leu3243=) rs1339135347
NM_001384732.1(CPLANE1):c.994_996del (p.Met332del) rs1797611349
NM_001384732.1(CPLANE1):c.[2854_2855insCT;3599C>T]

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