ClinVar Miner

List of variants in gene CPLANE1 reported as uncertain significance for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 276
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
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.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.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.*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.8462-1G>C rs151279194 0.00060
NM_001384732.1(CPLANE1):c.2855A>G (p.Asn952Ser) rs554483416 0.00057
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.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.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.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.5651A>C (p.Lys1884Thr) rs373865796 0.00019
NM_001384732.1(CPLANE1):c.626A>G (p.Lys209Arg) rs770630520 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.7298T>C (p.Leu2433Pro) rs372655878 0.00014
NM_001384732.1(CPLANE1):c.8908G>A (p.Ala2970Thr) rs369585190 0.00013
NM_001384732.1(CPLANE1):c.1271G>A (p.Arg424Gln) rs369204500 0.00012
NM_001384732.1(CPLANE1):c.1487A>G (p.Glu496Gly) rs938547995 0.00012
NM_001384732.1(CPLANE1):c.338C>A (p.Ala113Glu) rs534807606 0.00012
NM_001384732.1(CPLANE1):c.9307C>T (p.His3103Tyr) rs145378102 0.00012
NM_001384732.1(CPLANE1):c.*872A>C rs886060568 0.00011
NM_001384732.1(CPLANE1):c.1645A>G (p.Met549Val) rs563502625 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.1222C>T (p.Arg408Trp) rs189796608 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.2446C>G (p.Leu816Val) rs192335673 0.00009
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.9700A>T (p.Met3234Leu) rs770395082 0.00009
NM_001384732.1(CPLANE1):c.*813A>G rs187198752 0.00008
NM_001384732.1(CPLANE1):c.3130C>T (p.Arg1044Cys) rs376987361 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.1472A>T (p.Lys491Ile) rs761746624 0.00007
NM_001384732.1(CPLANE1):c.3428G>A (p.Arg1143Lys) rs377503881 0.00007
NM_001384732.1(CPLANE1):c.6158T>A (p.Phe2053Tyr) rs189493985 0.00007
NM_001384732.1(CPLANE1):c.9155C>G (p.Ser3052Cys) rs557372169 0.00007
NM_001384732.1(CPLANE1):c.9371C>T (p.Ala3124Val) rs372396805 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.1303A>G (p.Met435Val) rs1184764389 0.00006
NM_001384732.1(CPLANE1):c.1371+5A>G rs794727005 0.00006
NM_001384732.1(CPLANE1):c.1680G>A (p.Glu560=) rs749473632 0.00006
NM_001384732.1(CPLANE1):c.1969G>A (p.Val657Met) rs529419886 0.00006
NM_001384732.1(CPLANE1):c.5729A>C (p.Asp1910Ala) rs759558910 0.00006
NM_001384732.1(CPLANE1):c.6644A>G (p.His2215Arg) rs556705113 0.00006
NM_001384732.1(CPLANE1):c.7940C>T (p.Ser2647Leu) rs202140926 0.00006
NM_001384732.1(CPLANE1):c.7958A>G (p.Tyr2653Cys) rs371374142 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.3100A>G (p.Ile1034Val) rs965483152 0.00005
NM_001384732.1(CPLANE1):c.5311T>C (p.Tyr1771His) rs748355456 0.00005
NM_001384732.1(CPLANE1):c.532_534del (p.Lys178del) rs886043021 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.1312C>T (p.Leu438Phe) rs774184345 0.00004
NM_001384732.1(CPLANE1):c.2544G>C (p.Gln848His) rs199749415 0.00004
NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys) rs1012462823 0.00004
NM_001384732.1(CPLANE1):c.3620T>C (p.Val1207Ala) rs763642816 0.00004
NM_001384732.1(CPLANE1):c.3839G>A (p.Cys1280Tyr) rs149685637 0.00004
NM_001384732.1(CPLANE1):c.4054A>G (p.Ile1352Val) rs146808769 0.00004
NM_001384732.1(CPLANE1):c.4633C>T (p.Arg1545Cys) rs775743007 0.00004
NM_001384732.1(CPLANE1):c.5141C>T (p.Thr1714Ile) rs1424442518 0.00004
NM_001384732.1(CPLANE1):c.5203T>G (p.Leu1735Val) rs369286097 0.00004
NM_001384732.1(CPLANE1):c.6123G>A (p.Ser2041=) rs369977822 0.00004
NM_001384732.1(CPLANE1):c.7154C>T (p.Thr2385Ile) rs369361493 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.8747C>G (p.Ser2916Cys) rs1454812528 0.00004
NM_001384732.1(CPLANE1):c.8930A>G (p.His2977Arg) rs767695592 0.00004
NM_001384732.1(CPLANE1):c.9038A>G (p.Tyr3013Cys) rs143453963 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.1964A>C (p.Gln655Pro) rs923514393 0.00003
NM_001384732.1(CPLANE1):c.2428T>G (p.Cys810Gly) rs886060581 0.00003
NM_001384732.1(CPLANE1):c.2902C>T (p.Pro968Ser) rs980413221 0.00003
NM_001384732.1(CPLANE1):c.3090G>A (p.Thr1030=) rs768564404 0.00003
NM_001384732.1(CPLANE1):c.3364G>A (p.Asp1122Asn) rs775457117 0.00003
NM_001384732.1(CPLANE1):c.4055T>C (p.Ile1352Thr) rs759005825 0.00003
NM_001384732.1(CPLANE1):c.4156C>T (p.Leu1386Phe) rs769304117 0.00003
NM_001384732.1(CPLANE1):c.4678T>C (p.Tyr1560His) rs772945484 0.00003
NM_001384732.1(CPLANE1):c.6538C>G (p.Gln2180Glu) rs138088605 0.00003
NM_001384732.1(CPLANE1):c.7331G>A (p.Gly2444Glu) rs751548147 0.00003
NM_001384732.1(CPLANE1):c.8432C>T (p.Ala2811Val) rs140657139 0.00003
NM_001384732.1(CPLANE1):c.8594G>A (p.Ser2865Asn) rs752341833 0.00003
NM_001384732.1(CPLANE1):c.9227G>A (p.Gly3076Glu) rs376064818 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.1348T>G (p.Tyr450Asp) rs1204605921 0.00002
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe) rs372187548 0.00002
NM_001384732.1(CPLANE1):c.2354G>A (p.Arg785Gln) rs535811932 0.00002
NM_001384732.1(CPLANE1):c.3450C>T (p.Phe1150=) rs200449169 0.00002
NM_001384732.1(CPLANE1):c.3595C>T (p.Arg1199Trp) rs374075447 0.00002
NM_001384732.1(CPLANE1):c.4248G>A (p.Val1416=) rs758567108 0.00002
NM_001384732.1(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724 0.00002
NM_001384732.1(CPLANE1):c.5066A>G (p.Gln1689Arg) rs761691903 0.00002
NM_001384732.1(CPLANE1):c.5960C>T (p.Thr1987Met) rs141126113 0.00002
NM_001384732.1(CPLANE1):c.6511C>T (p.Arg2171Trp) rs371324866 0.00002
NM_001384732.1(CPLANE1):c.6734G>T (p.Ser2245Ile) rs750897841 0.00002
NM_001384732.1(CPLANE1):c.7079C>T (p.Pro2360Leu) rs779569678 0.00002
NM_001384732.1(CPLANE1):c.7562C>G (p.Pro2521Arg) rs922260468 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.8828C>T (p.Thr2943Ile) rs778535345 0.00002
NM_001384732.1(CPLANE1):c.8894A>G (p.Tyr2965Cys) rs374005945 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.1115C>T (p.Thr372Met) rs1046843624 0.00001
NM_001384732.1(CPLANE1):c.1546G>A (p.Glu516Lys) rs772553650 0.00001
NM_001384732.1(CPLANE1):c.1958A>G (p.Tyr653Cys) rs1342297170 0.00001
NM_001384732.1(CPLANE1):c.212G>A (p.Ser71Asn) rs756811653 0.00001
NM_001384732.1(CPLANE1):c.2185A>G (p.Ile729Val) rs1010091096 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.2664T>A (p.Asp888Glu) rs1287231108 0.00001
NM_001384732.1(CPLANE1):c.2824A>G (p.Met942Val) rs918958290 0.00001
NM_001384732.1(CPLANE1):c.2885A>G (p.His962Arg) rs926554823 0.00001
NM_001384732.1(CPLANE1):c.2933G>A (p.Arg978Gln) rs992985282 0.00001
NM_001384732.1(CPLANE1):c.2939T>C (p.Ile980Thr) rs1160747089 0.00001
NM_001384732.1(CPLANE1):c.3040C>G (p.Leu1014Val) rs969126655 0.00001
NM_001384732.1(CPLANE1):c.3245T>C (p.Leu1082Ser) rs943993886 0.00001
NM_001384732.1(CPLANE1):c.3379T>G (p.Ser1127Ala) rs776423792 0.00001
NM_001384732.1(CPLANE1):c.3415G>C (p.Asp1139His) rs1789225309 0.00001
NM_001384732.1(CPLANE1):c.3557A>G (p.Lys1186Arg) rs747382965 0.00001
NM_001384732.1(CPLANE1):c.361T>C (p.Tyr121His) rs886060587 0.00001
NM_001384732.1(CPLANE1):c.364G>A (p.Val122Ile) rs1404949478 0.00001
NM_001384732.1(CPLANE1):c.4175A>G (p.His1392Arg) rs753392667 0.00001
NM_001384732.1(CPLANE1):c.4576G>T (p.Asp1526Tyr) rs1363054900 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.5114T>C (p.Ile1705Thr) rs1160277331 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.5327G>A (p.Arg1776His) rs757385488 0.00001
NM_001384732.1(CPLANE1):c.5422-12G>A rs1561517509 0.00001
NM_001384732.1(CPLANE1):c.5737+15A>G rs1352836895 0.00001
NM_001384732.1(CPLANE1):c.5863G>C (p.Glu1955Gln) rs1042774343 0.00001
NM_001384732.1(CPLANE1):c.5876A>G (p.Glu1959Gly) rs1230715850 0.00001
NM_001384732.1(CPLANE1):c.5978+4A>G rs748763785 0.00001
NM_001384732.1(CPLANE1):c.6057A>G (p.Gln2019=) rs938358328 0.00001
NM_001384732.1(CPLANE1):c.6130G>A (p.Val2044Ile) rs773299420 0.00001
NM_001384732.1(CPLANE1):c.6172C>G (p.Leu2058Val) rs576883816 0.00001
NM_001384732.1(CPLANE1):c.6186C>A (p.Asn2062Lys) rs755471609 0.00001
NM_001384732.1(CPLANE1):c.6309T>G (p.Cys2103Trp) rs749862200 0.00001
NM_001384732.1(CPLANE1):c.646C>T (p.Arg216Trp) rs543556323 0.00001
NM_001384732.1(CPLANE1):c.6595C>T (p.Leu2199Phe) rs572837877 0.00001
NM_001384732.1(CPLANE1):c.6647C>G (p.Ala2216Gly) rs749403465 0.00001
NM_001384732.1(CPLANE1):c.6700C>T (p.Gln2234Ter) rs1381740657 0.00001
NM_001384732.1(CPLANE1):c.6724C>A (p.His2242Asn) rs752372376 0.00001
NM_001384732.1(CPLANE1):c.6815C>T (p.Pro2272Leu) rs777757781 0.00001
NM_001384732.1(CPLANE1):c.7360G>A (p.Glu2454Lys) rs867750018 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.7576G>A (p.Asp2526Asn) rs535480596 0.00001
NM_001384732.1(CPLANE1):c.7588+8T>C rs377295986 0.00001
NM_001384732.1(CPLANE1):c.7736A>G (p.Tyr2579Cys) rs771614298 0.00001
NM_001384732.1(CPLANE1):c.7789A>G (p.Ile2597Val) rs774074728 0.00001
NM_001384732.1(CPLANE1):c.7914G>A (p.Gln2638=) rs750429337 0.00001
NM_001384732.1(CPLANE1):c.792T>C (p.Asp264=) rs886060585 0.00001
NM_001384732.1(CPLANE1):c.7955A>G (p.His2652Arg) rs373755833 0.00001
NM_001384732.1(CPLANE1):c.81G>A (p.Lys27=) rs1264949337 0.00001
NM_001384732.1(CPLANE1):c.833A>G (p.Lys278Arg) rs566588740 0.00001
NM_001384732.1(CPLANE1):c.8830G>C (p.Asp2944His) rs761880579 0.00001
NM_001384732.1(CPLANE1):c.9146C>T (p.Thr3049Ile) rs767189816 0.00001
NM_001384732.1(CPLANE1):c.9467A>G (p.Gln3156Arg) rs768570313 0.00001
NM_001384732.1(CPLANE1):c.959T>C (p.Ile320Thr) rs886060584 0.00001
NM_001384732.1(CPLANE1):c.9694G>A (p.Glu3232Lys) rs372215544 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.*661T>G rs886060569
NM_001384732.1(CPLANE1):c.1103A>G (p.His368Arg) rs1286291749
NM_001384732.1(CPLANE1):c.1347A>G (p.Ile449Met) rs1796727512
NM_001384732.1(CPLANE1):c.1554A>T (p.Arg518Ser) rs886060583
NM_001384732.1(CPLANE1):c.1817T>G (p.Phe606Cys) rs2150438911
NM_001384732.1(CPLANE1):c.1823T>G (p.Ile608Ser) rs1194762831
NM_001384732.1(CPLANE1):c.190G>T (p.Val64Phe) rs965197100
NM_001384732.1(CPLANE1):c.202A>G (p.Thr68Ala) rs1002297986
NM_001384732.1(CPLANE1):c.2082G>A (p.Met694Ile) rs2150434091
NM_001384732.1(CPLANE1):c.2291+8C>T rs1454521743
NM_001384732.1(CPLANE1):c.2558C>A (p.Ala853Asp) rs886060580
NM_001384732.1(CPLANE1):c.2663A>G (p.Asp888Gly) rs1487026046
NM_001384732.1(CPLANE1):c.2763_2764inv (p.His921_Phe922delinsGlnIle)
NM_001384732.1(CPLANE1):c.2949A>G (p.Gln983=)
NM_001384732.1(CPLANE1):c.3101T>C (p.Ile1034Thr)
NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_001384732.1(CPLANE1):c.3733T>C (p.Cys1245Arg)
NM_001384732.1(CPLANE1):c.3777_3788del (p.His1260_Asp1263del) rs566159499
NM_001384732.1(CPLANE1):c.4080G>A (p.Lys1360=)
NM_001384732.1(CPLANE1):c.4189+1G>A
NM_001384732.1(CPLANE1):c.4219G>T (p.Val1407Phe) rs2151179962
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.5040A>T (p.Leu1680Phe) rs1783124765
NM_001384732.1(CPLANE1):c.5051C>T (p.Ser1684Leu) rs2151150270
NM_001384732.1(CPLANE1):c.5054T>C (p.Ile1685Thr) rs750439635
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.5255G>A (p.Arg1752Lys) rs763933855
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.6125A>C (p.Glu2042Ala) rs766565364
NM_001384732.1(CPLANE1):c.6302G>T (p.Arg2101Ile) rs771457677
NM_001384732.1(CPLANE1):c.6398A>C (p.Lys2133Thr) rs1218344038
NM_001384732.1(CPLANE1):c.6456C>A (p.Asn2152Lys) rs186460995
NM_001384732.1(CPLANE1):c.6456C>T (p.Asn2152=) rs186460995
NM_001384732.1(CPLANE1):c.6462G>A (p.Gln2154=)
NM_001384732.1(CPLANE1):c.6668A>T (p.Asp2223Val) rs538086941
NM_001384732.1(CPLANE1):c.7095A>G (p.Pro2365=) rs886060577
NM_001384732.1(CPLANE1):c.7243dup (p.Thr2415fs)
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu) rs146595129
NM_001384732.1(CPLANE1):c.7417G>A (p.Glu2473Lys) rs886060576
NM_001384732.1(CPLANE1):c.7438dup (p.Arg2480fs) rs886060575
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.7534-4_7534-3del rs1381389715
NM_001384732.1(CPLANE1):c.7972G>A (p.Val2658Ile) rs988332114
NM_001384732.1(CPLANE1):c.7984G>C (p.Val2662Leu) rs772274656
NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe) rs1561422940
NM_001384732.1(CPLANE1):c.8373+3A>G rs780519767
NM_001384732.1(CPLANE1):c.8462-6G>C rs1029215971
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+8_8663+12del rs763664569
NM_001384732.1(CPLANE1):c.8664-19A>G rs2150360134
NM_001384732.1(CPLANE1):c.8670A>G (p.Ser2890=) rs886060573
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

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