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.-151C>T
|
rs769827950
|
0.00088
|
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)
|
rs145520487
|
0.00087
|
NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys)
|
rs150556877
|
0.00076
|
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.4460G>A (p.Ser1487Asn)
|
rs138157520
|
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_015631.6(TCTN3):c.1403C>T (p.Ala468Val)
|
rs140103426
|
0.00026
|
NM_001384732.1(CPLANE1):c.3447A>G (p.Pro1149=)
|
rs141425550
|
0.00024
|
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro)
|
rs749447795
|
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.4306C>T (p.Pro1436Ser)
|
rs183021118
|
0.00017
|
NM_001384732.1(CPLANE1):c.1096C>T (p.Pro366Ser)
|
rs376489487
|
0.00016
|
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile)
|
rs202103224
|
0.00016
|
NM_015631.6(TCTN3):c.977A>G (p.Tyr326Cys)
|
rs888502576
|
0.00016
|
NM_015631.6(TCTN3):c.821C>G (p.Ala274Gly)
|
rs377047502
|
0.00015
|
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_015631.6(TCTN3):c.1474T>A (p.Cys492Ser)
|
rs149728983
|
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_015631.6(TCTN3):c.878A>G (p.Gln293Arg)
|
rs141231095
|
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_015631.6(TCTN3):c.1705G>A (p.Asp569Asn)
|
rs780308423
|
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_003611.3(OFD1):c.2584T>G (p.Ser862Ala)
|
rs797045846
|
0.00008
|
NM_015631.6(TCTN3):c.885G>A (p.Met295Ile)
|
rs201493612
|
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_015631.6(TCTN3):c.1774C>G (p.Leu592Val)
|
rs375708075
|
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.4355C>T (p.Ser1452Phe)
|
rs138792462
|
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_015631.6(TCTN3):c.1070A>G (p.Gln357Arg)
|
rs151123934
|
0.00006
|
NM_015631.6(TCTN3):c.769C>T (p.Arg257Cys)
|
rs780304630
|
0.00006
|
NM_015631.6(TCTN3):c.970G>A (p.Val324Ile)
|
rs769275482
|
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_015631.6(TCTN3):c.488A>G (p.His163Arg)
|
rs376756059
|
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_002601.4(PDE6D):c.364G>A (p.Val122Ile)
|
rs766118708
|
0.00004
|
NM_003611.3(OFD1):c.1490A>C (p.His497Pro)
|
rs772474080
|
0.00004
|
NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser)
|
rs755942179
|
0.00004
|
NM_015631.6(TCTN3):c.1590+4A>T
|
rs756071891
|
0.00004
|
NM_015631.6(TCTN3):c.326G>A (p.Cys109Tyr)
|
rs143758863
|
0.00004
|
NM_015631.6(TCTN3):c.627+6C>T
|
rs190843846
|
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_003611.3(OFD1):c.324G>A (p.Met108Ile)
|
rs763219658
|
0.00003
|
NM_015631.6(TCTN3):c.1268G>A (p.Gly423Glu)
|
rs535199429
|
0.00003
|
NM_015631.6(TCTN3):c.178G>A (p.Val60Met)
|
rs557962090
|
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_003611.3(OFD1):c.1025A>G (p.Tyr342Cys)
|
rs758712291
|
0.00002
|
NM_003611.3(OFD1):c.2022C>A (p.His674Gln)
|
rs759693810
|
0.00002
|
NM_003611.3(OFD1):c.3G>A (p.Met1Ile)
|
rs778840618
|
0.00002
|
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp)
|
rs776834508
|
0.00002
|
NM_003611.3(OFD1):c.730A>G (p.Met244Val)
|
rs770614769
|
0.00002
|
NM_015631.6(TCTN3):c.1059C>T (p.Gly353=)
|
rs750698768
|
0.00002
|
NM_015631.6(TCTN3):c.1060G>A (p.Ala354Thr)
|
rs765375312
|
0.00002
|
NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys)
|
rs777277759
|
0.00002
|
NM_015631.6(TCTN3):c.11C>T (p.Pro4Leu)
|
rs1399269953
|
0.00002
|
NM_015631.6(TCTN3):c.1396G>C (p.Asp466His)
|
rs754607949
|
0.00002
|
NM_015631.6(TCTN3):c.1421C>A (p.Thr474Asn)
|
rs1190331074
|
0.00002
|
NM_015631.6(TCTN3):c.1606A>G (p.Thr536Ala)
|
rs1290852650
|
0.00002
|
NM_015631.6(TCTN3):c.16C>G (p.Leu6Val)
|
rs759598264
|
0.00002
|
NM_015631.6(TCTN3):c.499+5G>T
|
rs1242330719
|
0.00002
|
NM_015631.6(TCTN3):c.628G>T (p.Ala210Ser)
|
rs541135431
|
0.00002
|
NM_015631.6(TCTN3):c.957T>G (p.Asn319Lys)
|
rs1176554738
|
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.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_002601.4(PDE6D):c.103A>G (p.Thr35Ala)
|
rs1448692172
|
0.00001
|
NM_002601.4(PDE6D):c.359C>A (p.Ala120Glu)
|
rs1430956453
|
0.00001
|
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)
|
rs758903488
|
0.00001
|
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys)
|
rs1454731121
|
0.00001
|
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe)
|
rs774888576
|
0.00001
|
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp)
|
rs1235702491
|
0.00001
|
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg)
|
rs1158126675
|
0.00001
|
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)
|
rs778349684
|
0.00001
|
NM_003611.3(OFD1):c.935+4A>G
|
rs1243725011
|
0.00001
|
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly)
|
rs764424025
|
0.00001
|
NM_015631.6(TCTN3):c.1088G>A (p.Arg363His)
|
rs1267547707
|
0.00001
|
NM_015631.6(TCTN3):c.1111A>G (p.Thr371Ala)
|
rs768480385
|
0.00001
|
NM_015631.6(TCTN3):c.1138A>G (p.Ser380Gly)
|
rs745968146
|
0.00001
|
NM_015631.6(TCTN3):c.1176G>T (p.Leu392Phe)
|
rs931265396
|
0.00001
|
NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn)
|
rs768285987
|
0.00001
|
NM_015631.6(TCTN3):c.119G>A (p.Arg40Gln)
|
rs1314333060
|
0.00001
|
NM_015631.6(TCTN3):c.121G>A (p.Gly41Arg)
|
rs1194762228
|
0.00001
|
NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly)
|
rs200705429
|
0.00001
|
NM_015631.6(TCTN3):c.1279A>G (p.Ile427Val)
|
rs142986132
|
0.00001
|
NM_015631.6(TCTN3):c.1285G>A (p.Gly429Arg)
|
rs773447066
|
0.00001
|
NM_015631.6(TCTN3):c.1346C>G (p.Thr449Ser)
|
rs775556315
|
0.00001
|
NM_015631.6(TCTN3):c.1453G>T (p.Ala485Ser)
|
rs2097942068
|
0.00001
|
NM_015631.6(TCTN3):c.1463G>C (p.Cys488Ser)
|
rs1273735180
|
0.00001
|
NM_015631.6(TCTN3):c.1466C>T (p.Thr489Ile)
|
rs767733835
|
0.00001
|
NM_015631.6(TCTN3):c.1538C>T (p.Pro513Leu)
|
rs756561177
|
0.00001
|
NM_015631.6(TCTN3):c.1572C>G (p.Tyr524Ter)
|
rs771745084
|
0.00001
|
NM_015631.6(TCTN3):c.1592A>T (p.Asp531Val)
|
rs747933488
|
0.00001
|
NM_015631.6(TCTN3):c.1606_1611del (p.Thr536_Glu537del)
|
rs891059654
|
0.00001
|
NM_015631.6(TCTN3):c.1607C>T (p.Thr536Ile)
|
rs768523448
|
0.00001
|
NM_015631.6(TCTN3):c.1771A>T (p.Ile591Phe)
|
rs746968875
|
0.00001
|
NM_015631.6(TCTN3):c.181C>A (p.Pro61Thr)
|
rs999127884
|
0.00001
|
NM_015631.6(TCTN3):c.223G>A (p.Ala75Thr)
|
rs1391185443
|
0.00001
|
NM_015631.6(TCTN3):c.381-3C>T
|
rs546476903
|
0.00001
|
NM_015631.6(TCTN3):c.606A>G (p.Gln202=)
|
rs777642622
|
0.00001
|
NM_015631.6(TCTN3):c.627G>A (p.Arg209=)
|
rs752918067
|
0.00001
|
NM_015631.6(TCTN3):c.766A>G (p.Thr256Ala)
|
rs780438906
|
0.00001
|
NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser)
|
rs762720849
|
0.00001
|
NM_015631.6(TCTN3):c.879G>C (p.Gln293His)
|
rs147928670
|
0.00001
|
NM_015631.6(TCTN3):c.883A>G (p.Met295Val)
|
rs746046233
|
0.00001
|
NM_015631.6(TCTN3):c.894G>C (p.Gln298His)
|
rs1464905299
|
0.00001
|
NM_015631.6(TCTN3):c.924T>G (p.Asn308Lys)
|
rs971089853
|
0.00001
|
NC_000002.11:g.(?_231033840)_(234978657_?)dup
|
|
|
NC_000002.11:g.(?_232597662)_(232597763_?)del
|
|
|
NC_000002.11:g.(?_232597662)_(232597763_?)dup
|
|
|
NC_000002.11:g.(?_232597662)_(232603918_?)dup
|
|
|
NC_000010.10:g.(?_97440209)_(97440386_?)del
|
|
|
NC_000010.10:g.(?_97442388)_(97516032_?)dup
|
|
|
NM_001384732.1(CPLANE1):c.*40C>T
|
rs1757860413
|
|
NM_001384732.1(CPLANE1):c.*661T>G
|
rs886060569
|
|
NM_001384732.1(CPLANE1):c.-77C>T
|
rs910545554
|
|
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.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.4362del (p.Thr1455fs)
|
rs1561531833
|
|
NM_001384732.1(CPLANE1):c.4379G>C (p.Ser1460Thr)
|
rs886060579
|
|
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.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.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
|
|
NM_002601.4(PDE6D):c.182G>A (p.Arg61Gln)
|
|
|
NM_002601.4(PDE6D):c.224G>A (p.Arg75His)
|
|
|
NM_002601.4(PDE6D):c.227T>C (p.Leu76Pro)
|
|
|
NM_002601.4(PDE6D):c.266-3C>T
|
rs2106260539
|
|
NM_002601.4(PDE6D):c.298A>G (p.Asn100Asp)
|
|
|
NM_002601.4(PDE6D):c.304A>C (p.Thr102Pro)
|
rs2106260506
|
|
NM_002601.4(PDE6D):c.30G>C (p.Glu10Asp)
|
|
|
NM_002601.4(PDE6D):c.311C>T (p.Thr104Ile)
|
rs2048708941
|
|
NM_002601.4(PDE6D):c.328G>A (p.Glu110Lys)
|
rs1023549002
|
|
NM_002601.4(PDE6D):c.390A>T (p.Glu130Asp)
|
rs2106256926
|
|
NM_002601.4(PDE6D):c.40G>A (p.Gly14Ser)
|
rs1366113264
|
|
NM_002601.4(PDE6D):c.424A>G (p.Thr142Ala)
|
|
|
NM_002601.4(PDE6D):c.51A>C (p.Leu17=)
|
rs1328575509
|
|
NM_002601.4(PDE6D):c.67C>T (p.Arg23Trp)
|
rs570163390
|
|
NM_002601.4(PDE6D):c.68G>A (p.Arg23Gln)
|
|
|
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr)
|
rs2147032761
|
|
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly)
|
rs2047794483
|
|
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
|
|
|
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del)
|
rs1602826132
|
|
NM_003611.3(OFD1):c.882T>A (p.Asp294Glu)
|
|
|
NM_015631.6(TCTN3):c.1008C>G (p.Ile336Met)
|
|
|
NM_015631.6(TCTN3):c.1013A>G (p.Lys338Arg)
|
rs1206102625
|
|
NM_015631.6(TCTN3):c.101C>A (p.Thr34Lys)
|
|
|
NM_015631.6(TCTN3):c.1048G>A (p.Val350Ile)
|
|
|
NM_015631.6(TCTN3):c.1076A>G (p.His359Arg)
|
rs982781639
|
|
NM_015631.6(TCTN3):c.1079T>G (p.Phe360Cys)
|
|
|
NM_015631.6(TCTN3):c.107T>C (p.Leu36Ser)
|
|
|
NM_015631.6(TCTN3):c.1103A>C (p.Gln368Pro)
|
rs200742071
|
|
NM_015631.6(TCTN3):c.1133C>A (p.Pro378His)
|
|
|
NM_015631.6(TCTN3):c.1139G>C (p.Ser380Thr)
|
|
|
NM_015631.6(TCTN3):c.1160T>C (p.Val387Ala)
|
|
|
NM_015631.6(TCTN3):c.1160T>G (p.Val387Gly)
|
|
|
NM_015631.6(TCTN3):c.1163G>C (p.Gly388Ala)
|
|
|
NM_015631.6(TCTN3):c.1176G>C (p.Leu392Phe)
|
|
|
NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr)
|
rs1432135827
|
|
NM_015631.6(TCTN3):c.1189G>A (p.Asp397Asn)
|
|
|
NM_015631.6(TCTN3):c.1192A>G (p.Ile398Val)
|
|
|
NM_015631.6(TCTN3):c.1203+5C>T
|
rs2139739478
|
|
NM_015631.6(TCTN3):c.1203A>G (p.Ser401=)
|
|
|
NM_015631.6(TCTN3):c.1210C>T (p.Leu404Phe)
|
rs1008019391
|
|
NM_015631.6(TCTN3):c.1213T>A (p.Leu405Ile)
|
|
|
NM_015631.6(TCTN3):c.1224_1226del (p.Gln408_Gly409delinsHis)
|
|
|
NM_015631.6(TCTN3):c.1232G>C (p.Gly411Ala)
|
|
|
NM_015631.6(TCTN3):c.1238G>A (p.Cys413Tyr)
|
rs2139738439
|
|
NM_015631.6(TCTN3):c.1253A>G (p.His418Arg)
|
|
|
NM_015631.6(TCTN3):c.1259T>G (p.Val420Gly)
|
rs2139738378
|
|
NM_015631.6(TCTN3):c.1298G>C (p.Arg433Thr)
|
rs2139738242
|
|
NM_015631.6(TCTN3):c.1348C>T (p.Leu450Phe)
|
rs2139737228
|
|
NM_015631.6(TCTN3):c.1361C>G (p.Pro454Arg)
|
|
|
NM_015631.6(TCTN3):c.137C>T (p.Thr46Ile)
|
|
|
NM_015631.6(TCTN3):c.1381A>G (p.Ile461Val)
|
|
|
NM_015631.6(TCTN3):c.1402G>C (p.Ala468Pro)
|
rs1218187792
|
|
NM_015631.6(TCTN3):c.1415G>A (p.Gly472Glu)
|
|
|
NM_015631.6(TCTN3):c.1417T>C (p.Trp473Arg)
|
rs2097944204
|
|
NM_015631.6(TCTN3):c.1421C>G (p.Thr474Ser)
|
rs1190331074
|
|
NM_015631.6(TCTN3):c.1438C>T (p.His480Tyr)
|
|
|
NM_015631.6(TCTN3):c.1451C>T (p.Ser484Leu)
|
rs2139736784
|
|
NM_015631.6(TCTN3):c.1457T>A (p.Ile486Lys)
|
rs2097942057
|
|
NM_015631.6(TCTN3):c.1469C>T (p.Ser490Phe)
|
|
|
NM_015631.6(TCTN3):c.1474_1484del (p.Cys492fs)
|
rs1454064691
|
|
NM_015631.6(TCTN3):c.1489T>G (p.Ser497Ala)
|
|
|
NM_015631.6(TCTN3):c.1490C>G (p.Ser497Cys)
|
|
|
NM_015631.6(TCTN3):c.1499T>C (p.Ile500Thr)
|
|
|
NM_015631.6(TCTN3):c.1513G>A (p.Ala505Thr)
|
|
|
NM_015631.6(TCTN3):c.1562G>A (p.Arg521Gln)
|
|
|
NM_015631.6(TCTN3):c.1562G>C (p.Arg521Pro)
|
rs765803620
|
|
NM_015631.6(TCTN3):c.1564T>C (p.Phe522Leu)
|
|
|
NM_015631.6(TCTN3):c.1575G>T (p.Gln525His)
|
|
|
NM_015631.6(TCTN3):c.1576T>C (p.Cys526Arg)
|
|
|
NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg)
|
|
|
NM_015631.6(TCTN3):c.1583C>A (p.Ser528Tyr)
|
|
|
NM_015631.6(TCTN3):c.1589A>G (p.Gln530Arg)
|
rs1165507491
|
|
NM_015631.6(TCTN3):c.1591G>A (p.Asp531Asn)
|
|
|
NM_015631.6(TCTN3):c.1591G>T (p.Asp531Tyr)
|
rs143735885
|
|
NM_015631.6(TCTN3):c.1647del (p.Thr550fs)
|
rs2139691832
|
|
NM_015631.6(TCTN3):c.1660C>T (p.Gln554Ter)
|
rs2139691743
|
|
NM_015631.6(TCTN3):c.1669A>G (p.Arg557Gly)
|
|
|
NM_015631.6(TCTN3):c.1688A>C (p.Asp563Ala)
|
|
|
NM_015631.6(TCTN3):c.1707CTT[1] (p.Phe571del)
|
|
|
NM_015631.6(TCTN3):c.1736G>A (p.Arg579Lys)
|
rs1352225292
|
|
NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu)
|
rs1566062590
|
|
NM_015631.6(TCTN3):c.1755A>T (p.Lys585Asn)
|
|
|
NM_015631.6(TCTN3):c.1762G>A (p.Val588Ile)
|
|
|
NM_015631.6(TCTN3):c.1766C>G (p.Ser589Cys)
|
rs927310199
|
|
NM_015631.6(TCTN3):c.1772T>C (p.Ile591Thr)
|
|
|
NM_015631.6(TCTN3):c.1774C>T (p.Leu592Phe)
|
|
|
NM_015631.6(TCTN3):c.1796T>G (p.Leu599Arg)
|
rs1291662541
|
|
NM_015631.6(TCTN3):c.17T>C (p.Leu6Pro)
|
|
|
NM_015631.6(TCTN3):c.1816A>G (p.Thr606Ala)
|
|
|
NM_015631.6(TCTN3):c.1819_1820del (p.Met607fs)
|
|
|
NM_015631.6(TCTN3):c.191C>T (p.Pro64Leu)
|
|
|
NM_015631.6(TCTN3):c.194C>T (p.Thr65Ile)
|
rs2097955954
|
|
NM_015631.6(TCTN3):c.245A>T (p.Asp82Val)
|
rs2139768503
|
|
NM_015631.6(TCTN3):c.256G>T (p.Val86Phe)
|
|
|
NM_015631.6(TCTN3):c.265A>T (p.Ile89Phe)
|
|
|
NM_015631.6(TCTN3):c.295T>C (p.Cys99Arg)
|
|
|
NM_015631.6(TCTN3):c.301A>T (p.Ile101Leu)
|
rs2139767336
|
|
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr)
|
rs2139767280
|
|
NM_015631.6(TCTN3):c.323A>G (p.Asp108Gly)
|
|
|
NM_015631.6(TCTN3):c.361T>G (p.Cys121Gly)
|
rs2139767099
|
|
NM_015631.6(TCTN3):c.362G>C (p.Cys121Ser)
|
rs1165732615
|
|
NM_015631.6(TCTN3):c.367C>A (p.Pro123Thr)
|
|
|
NM_015631.6(TCTN3):c.368C>G (p.Pro123Arg)
|
rs1005806916
|
|
NM_015631.6(TCTN3):c.390C>G (p.Ser130Arg)
|
rs533262975
|
|
NM_015631.6(TCTN3):c.393G>C (p.Trp131Cys)
|
|
|
NM_015631.6(TCTN3):c.412G>A (p.Val138Ile)
|
|
|
NM_015631.6(TCTN3):c.434C>T (p.Pro145Leu)
|
rs1489817091
|
|
NM_015631.6(TCTN3):c.455T>C (p.Met152Thr)
|
rs2139764940
|
|
NM_015631.6(TCTN3):c.476A>G (p.Gln159Arg)
|
|
|
NM_015631.6(TCTN3):c.48C>A (p.Phe16Leu)
|
|
|
NM_015631.6(TCTN3):c.491T>C (p.Val164Ala)
|
rs1314557393
|
|
NM_015631.6(TCTN3):c.510C>G (p.Asn170Lys)
|
|
|
NM_015631.6(TCTN3):c.52G>A (p.Asp18Asn)
|
rs2139769650
|
|
NM_015631.6(TCTN3):c.536A>G (p.Asn179Ser)
|
|
|
NM_015631.6(TCTN3):c.554C>T (p.Ala185Val)
|
rs888815068
|
|
NM_015631.6(TCTN3):c.566A>G (p.Glu189Gly)
|
|
|
NM_015631.6(TCTN3):c.56G>A (p.Gly19Asp)
|
|
|
NM_015631.6(TCTN3):c.570T>G (p.Phe190Leu)
|
|
|
NM_015631.6(TCTN3):c.593C>T (p.Thr198Ile)
|
|
|
NM_015631.6(TCTN3):c.614C>T (p.Pro205Leu)
|
rs2139750466
|
|
NM_015631.6(TCTN3):c.61C>T (p.Arg21Trp)
|
|
|
NM_015631.6(TCTN3):c.627+6C>G
|
|
|
NM_015631.6(TCTN3):c.62G>T (p.Arg21Leu)
|
rs1406986953
|
|
NM_015631.6(TCTN3):c.670A>G (p.Ile224Val)
|
|
|
NM_015631.6(TCTN3):c.707G>A (p.Gly236Glu)
|
|
|
NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser)
|
rs1555270274
|
|
NM_015631.6(TCTN3):c.730C>G (p.Pro244Ala)
|
rs1389518788
|
|
NM_015631.6(TCTN3):c.735A>G (p.Ala245=)
|
rs2097949239
|
|
NM_015631.6(TCTN3):c.755G>A (p.Ser252Asn)
|
|
|
NM_015631.6(TCTN3):c.760A>G (p.Thr254Ala)
|
|
|
NM_015631.6(TCTN3):c.769C>A (p.Arg257Ser)
|
rs780304630
|
|
NM_015631.6(TCTN3):c.780G>C (p.Lys260Asn)
|
|
|
NM_015631.6(TCTN3):c.82C>G (p.Pro28Ala)
|
|
|
NM_015631.6(TCTN3):c.850A>G (p.Lys284Glu)
|
rs2139748562
|
|
NM_015631.6(TCTN3):c.852+4G>A
|
rs2139748541
|
|
NM_015631.6(TCTN3):c.853-11T>C
|
|
|
NM_015631.6(TCTN3):c.853G>A (p.Val285Ile)
|
|
|
NM_015631.6(TCTN3):c.867G>A (p.Met289Ile)
|
|
|
NM_015631.6(TCTN3):c.873T>A (p.Asp291Glu)
|
rs2139747266
|
|
NM_015631.6(TCTN3):c.877C>A (p.Gln293Lys)
|
|
|
NM_015631.6(TCTN3):c.888+3A>T
|
|
|
NM_015631.6(TCTN3):c.907C>T (p.Leu303Phe)
|
|
|
NM_015631.6(TCTN3):c.911C>T (p.Thr304Ile)
|
rs1024201294
|
|
NM_015631.6(TCTN3):c.92C>A (p.Ala31Glu)
|
|
|
NM_015631.6(TCTN3):c.936G>A (p.Leu312=)
|
|
|
NM_015631.6(TCTN3):c.958G>T (p.Val320Leu)
|
|
|
NM_015631.6(TCTN3):c.965C>G (p.Ser322Cys)
|
|
|
NM_015631.6(TCTN3):c.979G>A (p.Glu327Lys)
|
rs745387147
|
|
NM_015631.6(TCTN3):c.982A>T (p.Ile328Leu)
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rs1267152740
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NM_015631.6(TCTN3):c.994G>A (p.Gly332Arg)
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NM_015631.6(TCTN3):c.995G>C (p.Gly332Ala)
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NM_023073.3(CPLANE1):c.-234G>A
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rs80164363
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