|
NM_001384732.1(CPLANE1):c.81+20=
|
rs6876576
|
0.99993
|
|
NM_015631.6(TCTN3):c.603T>A (p.Thr201=)
|
rs10786229
|
0.35079
|
|
NM_003611.3(OFD1):c.1129+16A>G
|
rs3815049
|
0.28815
|
|
NM_015631.6(TCTN3):c.1204-43T>C
|
rs17461546
|
0.26815
|
|
NM_015631.6(TCTN3):c.1453-28A>G
|
rs12784530
|
0.21461
|
|
NM_015631.6(TCTN3):c.500-11A>T
|
rs11188434
|
0.18618
|
|
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys)
|
rs10076911
|
0.17153
|
|
NM_001384732.1(CPLANE1):c.5901-3T>C
|
rs10805625
|
0.15103
|
|
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu)
|
rs75589774
|
0.10422
|
|
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro)
|
rs11553577
|
0.10199
|
|
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.7775C>T (p.Pro2592Leu)
|
rs16903518
|
0.02308
|
|
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp)
|
rs72736758
|
0.02238
|
|
NM_001384732.1(CPLANE1):c.9346G>A (p.Gly3116Arg)
|
rs7702892
|
0.02157
|
|
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
|
0.01568
|
|
NM_001384732.1(CPLANE1):c.3795T>A (p.Val1265=)
|
rs74478954
|
0.01567
|
|
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser)
|
rs55859130
|
0.01485
|
|
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=)
|
rs61745362
|
0.01450
|
|
NM_001384732.1(CPLANE1):c.3240C>T (p.Ala1080=)
|
rs28514632
|
0.01404
|
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
|
NM_001384732.1(CPLANE1):c.1737G>A (p.Ala579=)
|
rs13356183
|
0.01342
|
|
NM_001384732.1(CPLANE1):c.8664-3A>T
|
rs58401892
|
0.01290
|
|
NM_001384732.1(CPLANE1):c.4310T>C (p.Ile1437Thr)
|
rs6859950
|
0.01204
|
|
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
|
rs62070884
|
0.00873
|
|
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr)
|
rs77014998
|
0.00719
|
|
NM_003611.3(OFD1):c.714T>C (p.Tyr238=)
|
rs139848884
|
0.00637
|
|
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=)
|
rs79935028
|
0.00635
|
|
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=)
|
rs143147192
|
0.00633
|
|
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter)
|
rs202233735
|
0.00627
|
|
NM_003611.3(OFD1):c.2929-18C>T
|
rs180940027
|
0.00601
|
|
NM_001384732.1(CPLANE1):c.*396T>C
|
rs115541718
|
0.00597
|
|
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=)
|
rs114126795
|
0.00589
|
|
NM_015631.6(TCTN3):c.630T>C (p.Ala210=)
|
rs41299157
|
0.00543
|
|
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_015631.6(TCTN3):c.1030G>A (p.Gly344Arg)
|
rs141088838
|
0.00450
|
|
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val)
|
rs41291570
|
0.00447
|
|
NM_001384732.1(CPLANE1):c.*807A>G
|
rs78011227
|
0.00418
|
|
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=)
|
rs16903514
|
0.00384
|
|
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr)
|
rs149647255
|
0.00381
|
|
NM_001384732.1(CPLANE1):c.4719C>T (p.Asp1573=)
|
rs143084362
|
0.00368
|
|
NM_002601.4(PDE6D):c.371+8A>C
|
rs75242814
|
0.00367
|
|
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=)
|
rs16903511
|
0.00353
|
|
NM_015631.6(TCTN3):c.21G>A (p.Ala7=)
|
rs61737888
|
0.00320
|
|
NM_023073.3(CPLANE1):c.*1369C>A
|
rs116197379
|
0.00320
|
|
NM_001384732.1(CPLANE1):c.*518T>C
|
rs556117030
|
0.00315
|
|
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)
|
rs145300245
|
0.00298
|
|
NM_001384732.1(CPLANE1):c.7234-7C>G
|
rs141575785
|
0.00285
|
|
NM_001384732.1(CPLANE1):c.765A>C (p.Gly255=)
|
rs117995360
|
0.00257
|
|
NM_001384732.1(CPLANE1):c.8958+4A>C
|
rs199810663
|
0.00237
|
|
NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn)
|
rs146510084
|
0.00224
|
|
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr)
|
rs111294855
|
0.00205
|
|
NM_001384732.1(CPLANE1):c.9093A>G (p.Ser3031=)
|
rs141014620
|
0.00190
|
|
NM_002601.4(PDE6D):c.406G>A (p.Asp136Asn)
|
rs142298615
|
0.00181
|
|
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val)
|
rs139940282
|
0.00175
|
|
NM_001384732.1(CPLANE1):c.5738-6C>T
|
rs148634159
|
0.00174
|
|
NM_001384732.1(CPLANE1):c.8568G>C (p.Val2856=)
|
rs145215555
|
0.00174
|
|
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=)
|
rs148005445
|
0.00167
|
|
NM_003611.3(OFD1):c.1654+14T>A
|
rs192720874
|
0.00131
|
|
NM_001384732.1(CPLANE1):c.*441A>C
|
rs7712558
|
0.00120
|
|
NM_001384732.1(CPLANE1):c.1883G>A (p.Arg628Lys)
|
rs74975451
|
0.00120
|
|
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala)
|
rs200042949
|
0.00115
|
|
NM_001384732.1(CPLANE1):c.8374-15G>A
|
rs74881219
|
0.00111
|
|
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met)
|
rs34737149
|
0.00109
|
|
NM_015631.6(TCTN3):c.1591-5C>T
|
rs181107730
|
0.00109
|
|
NM_001384732.1(CPLANE1):c.*642G>A
|
rs543018376
|
0.00108
|
|
NM_001384732.1(CPLANE1):c.1755A>G (p.Ser585=)
|
rs186970259
|
0.00107
|
|
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.994A>G (p.Met332Val)
|
rs369404481
|
0.00098
|
|
NM_001384732.1(CPLANE1):c.-151C>T
|
rs769827950
|
0.00088
|
|
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)
|
rs141911199
|
0.00088
|
|
NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg)
|
rs144081297
|
0.00088
|
|
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)
|
rs145520487
|
0.00087
|
|
NM_002601.4(PDE6D):c.140-3C>T
|
rs368073853
|
0.00079
|
|
NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys)
|
rs150556877
|
0.00076
|
|
NM_015631.6(TCTN3):c.500-6T>C
|
rs201444392
|
0.00076
|
|
NM_015631.6(TCTN3):c.1764C>T (p.Val588=)
|
rs137856303
|
0.00071
|
|
NM_015631.6(TCTN3):c.1425G>A (p.Arg475=)
|
rs144543830
|
0.00063
|
|
NM_015631.6(TCTN3):c.280T>C (p.Leu94=)
|
rs367982164
|
0.00062
|
|
NM_001384732.1(CPLANE1):c.6860G>A (p.Ser2287Asn)
|
rs147451628
|
0.00061
|
|
NM_001384732.1(CPLANE1):c.8462-1G>C
|
rs151279194
|
0.00060
|
|
NM_001384732.1(CPLANE1):c.7920C>T (p.Ser2640=)
|
rs141486731
|
0.00058
|
|
NM_015631.6(TCTN3):c.889-8G>A
|
rs374331871
|
0.00058
|
|
NM_001384732.1(CPLANE1):c.*18G>T
|
rs200332492
|
0.00053
|
|
NM_001384732.1(CPLANE1):c.2855A>G (p.Asn952Ser)
|
rs554483416
|
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.3012T>C (p.Tyr1004=)
|
rs546670307
|
0.00043
|
|
NM_001384732.1(CPLANE1):c.4309A>G (p.Ile1437Val)
|
rs773668280
|
0.00043
|
|
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala)
|
rs529916753
|
0.00043
|
|
NM_001384732.1(CPLANE1):c.4954C>T (p.Leu1652=)
|
rs141109938
|
0.00042
|
|
NM_001384732.1(CPLANE1):c.1116G>A (p.Thr372=)
|
rs551066377
|
0.00041
|
|
NM_001384732.1(CPLANE1):c.8175A>C (p.Ala2725=)
|
rs201122718
|
0.00040
|
|
NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val)
|
rs191239995
|
0.00036
|
|
NM_015631.6(TCTN3):c.1567C>T (p.Leu523=)
|
rs150579201
|
0.00036
|
|
NM_001384732.1(CPLANE1):c.7275G>A (p.Ala2425=)
|
rs137899908
|
0.00035
|
|
NM_001384732.1(CPLANE1):c.9016A>G (p.Arg3006Gly)
|
rs116198390
|
0.00035
|
|
NM_001384732.1(CPLANE1):c.4986A>C (p.Gln1662His)
|
rs547409263
|
0.00034
|
|
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_002601.4(PDE6D):c.258C>T (p.Cys86=)
|
rs151191604
|
0.00031
|
|
NM_015631.6(TCTN3):c.1317C>T (p.Cys439=)
|
rs34474203
|
0.00031
|
|
NM_001384732.1(CPLANE1):c.3150-12A>G
|
rs755478099
|
0.00030
|
|
NM_001384732.1(CPLANE1):c.7596A>G (p.Leu2532=)
|
rs201502145
|
0.00029
|
|
NM_001384732.1(CPLANE1):c.7616C>T (p.Ala2539Val)
|
rs150595284
|
0.00029
|
|
NM_015631.6(TCTN3):c.1403C>T (p.Ala468Val)
|
rs140103426
|
0.00026
|
|
NM_001384732.1(CPLANE1):c.5447G>A (p.Cys1816Tyr)
|
rs138639220
|
0.00025
|
|
NM_001384732.1(CPLANE1):c.3447A>G (p.Pro1149=)
|
rs141425550
|
0.00024
|
|
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu)
|
rs142352920
|
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.1655C>T (p.Thr552Met)
|
rs77739540
|
0.00023
|
|
NM_003611.3(OFD1):c.2260+12G>A
|
rs375507459
|
0.00023
|
|
NM_001384732.1(CPLANE1):c.4074C>T (p.Ile1358=)
|
rs145018253
|
0.00022
|
|
NM_015631.6(TCTN3):c.1096-14C>A
|
rs41291568
|
0.00022
|
|
NM_015631.6(TCTN3):c.1096-17C>G
|
rs1589615067
|
0.00022
|
|
NM_001384732.1(CPLANE1):c.5820+8A>G
|
rs181096718
|
0.00021
|
|
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu)
|
rs146595129
|
0.00021
|
|
NM_001384732.1(CPLANE1):c.1835T>C (p.Ile612Thr)
|
rs551661336
|
0.00020
|
|
NM_001384732.1(CPLANE1):c.9579+7A>G
|
rs369166609
|
0.00020
|
|
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.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
|
0.00017
|
|
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile)
|
rs202103224
|
0.00016
|
|
NM_015631.6(TCTN3):c.537T>C (p.Asn179=)
|
rs141346992
|
0.00016
|
|
NM_015631.6(TCTN3):c.977A>G (p.Tyr326Cys)
|
rs888502576
|
0.00016
|
|
NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp)
|
rs189796608
|
0.00015
|
|
NM_001384732.1(CPLANE1):c.4262G>A (p.Arg1421His)
|
rs139594497
|
0.00015
|
|
NM_001384732.1(CPLANE1):c.4306C>T (p.Pro1436Ser)
|
rs183021118
|
0.00015
|
|
NM_003611.3(OFD1):c.2235C>T (p.Ser745=)
|
rs372503752
|
0.00015
|
|
NM_001384732.1(CPLANE1):c.420T>C (p.Leu140=)
|
rs1056117590
|
0.00014
|
|
NM_001384732.1(CPLANE1):c.7298T>C (p.Leu2433Pro)
|
rs372655878
|
0.00014
|
|
NM_015631.6(TCTN3):c.821C>G (p.Ala274Gly)
|
rs377047502
|
0.00014
|
|
NM_001384732.1(CPLANE1):c.*872A>C
|
rs886060568
|
0.00013
|
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00013
|
|
NM_001384732.1(CPLANE1):c.4322A>G (p.Lys1441Arg)
|
rs372201329
|
0.00013
|
|
NM_001384732.1(CPLANE1):c.6512G>A (p.Arg2171Gln)
|
rs377742483
|
0.00013
|
|
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_015631.6(TCTN3):c.1575G>A (p.Gln525=)
|
rs768137956
|
0.00013
|
|
NM_001384732.1(CPLANE1):c.*423C>G
|
rs190089842
|
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.5900G>C (p.Gly1967Ala)
|
rs138049045
|
0.00012
|
|
NM_001384732.1(CPLANE1):c.834+15G>A
|
rs373984590
|
0.00012
|
|
NM_015631.6(TCTN3):c.1299-11T>C
|
rs532774999
|
0.00012
|
|
NM_015631.6(TCTN3):c.878A>G (p.Gln293Arg)
|
rs141231095
|
0.00012
|
|
NM_001384732.1(CPLANE1):c.1271G>A (p.Arg424Gln)
|
rs369204500
|
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.9307C>T (p.His3103Tyr)
|
rs145378102
|
0.00011
|
|
NM_015631.6(TCTN3):c.1452+16T>C
|
rs779934498
|
0.00011
|
|
NM_015631.6(TCTN3):c.1569A>G (p.Leu523=)
|
rs201367852
|
0.00011
|
|
NM_015631.6(TCTN3):c.159G>A (p.Ala53=)
|
rs540555381
|
0.00011
|
|
NM_015631.6(TCTN3):c.1688A>C (p.Asp563Ala)
|
rs369937483
|
0.00011
|
|
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg)
|
rs373479905
|
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_003611.3(OFD1):c.2928+18A>G
|
rs756838502
|
0.00010
|
|
NM_015631.6(TCTN3):c.1705G>A (p.Asp569Asn)
|
rs780308423
|
0.00010
|
|
NM_015631.6(TCTN3):c.25C>T (p.Leu9=)
|
rs770794139
|
0.00010
|
|
NM_001384732.1(CPLANE1):c.1645A>G (p.Met549Val)
|
rs563502625
|
0.00009
|
|
NM_001384732.1(CPLANE1):c.2446C>G (p.Leu816Val)
|
rs192335673
|
0.00009
|
|
NM_001384732.1(CPLANE1):c.5195A>G (p.Asp1732Gly)
|
rs756274300
|
0.00009
|
|
NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys)
|
rs144969169
|
0.00009
|
|
NM_001384732.1(CPLANE1):c.6446G>A (p.Ser2149Asn)
|
rs765250980
|
0.00009
|
|
NM_001384732.1(CPLANE1):c.6695C>T (p.Ser2232Phe)
|
rs751344423
|
0.00009
|
|
NM_001384732.1(CPLANE1):c.9700A>T (p.Met3234Leu)
|
rs770395082
|
0.00009
|
|
NM_015631.6(TCTN3):c.1695A>G (p.Lys565=)
|
rs370069674
|
0.00009
|
|
NM_015631.6(TCTN3):c.576C>T (p.Gly192=)
|
rs143020764
|
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.8739C>T (p.Asp2913=)
|
rs376535591
|
0.00008
|
|
NM_001384732.1(CPLANE1):c.9031G>A (p.Glu3011Lys)
|
rs200358545
|
0.00008
|
|
NM_001384732.1(CPLANE1):c.9155C>G (p.Ser3052Cys)
|
rs557372169
|
0.00008
|
|
NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val)
|
rs375708075
|
0.00008
|
|
NM_015631.6(TCTN3):c.885G>A (p.Met295Ile)
|
rs201493612
|
0.00008
|
|
NM_015631.6(TCTN3):c.933G>T (p.Leu311=)
|
rs371380545
|
0.00008
|
|
NM_001384732.1(CPLANE1):c.1472A>T (p.Lys491Ile)
|
rs761746624
|
0.00007
|
|
NM_001384732.1(CPLANE1):c.2065T>C (p.Phe689Leu)
|
rs1034725789
|
0.00007
|
|
NM_001384732.1(CPLANE1):c.3428G>A (p.Arg1143Lys)
|
rs377503881
|
0.00007
|
|
NM_001384732.1(CPLANE1):c.3534A>C (p.Lys1178Asn)
|
rs144890880
|
0.00007
|
|
NM_001384732.1(CPLANE1):c.3676C>T (p.Arg1226Ter)
|
rs749421099
|
0.00007
|
|
NM_001384732.1(CPLANE1):c.4181T>C (p.Val1394Ala)
|
rs113930638
|
0.00007
|
|
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)
|
rs606231259
|
0.00007
|
|
NM_001384732.1(CPLANE1):c.6158T>A (p.Phe2053Tyr)
|
rs189493985
|
0.00007
|
|
NM_001384732.1(CPLANE1):c.628T>G (p.Leu210Val)
|
rs372873088
|
0.00007
|
|
NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His)
|
rs771622959
|
0.00007
|
|
NM_001384732.1(CPLANE1):c.9371C>T (p.Ala3124Val)
|
rs372396805
|
0.00007
|
|
NM_001384732.1(CPLANE1):c.9524C>T (p.Thr3175Met)
|
rs587783354
|
0.00007
|
|
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln)
|
rs146930931
|
0.00007
|
|
NM_015631.6(TCTN3):c.1278A>G (p.Ala426=)
|
rs184805842
|
0.00007
|
|
NM_015631.6(TCTN3):c.769C>T (p.Arg257Cys)
|
rs780304630
|
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.1784T>G (p.Leu595Ter)
|
rs530569572
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.1969G>A (p.Val657Met)
|
rs529419886
|
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.3474A>G (p.Pro1158=)
|
rs148286269
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.4355C>T (p.Ser1452Phe)
|
rs138792462
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.5579C>T (p.Pro1860Leu)
|
rs368751039
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.5729A>C (p.Asp1910Ala)
|
rs759558910
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.7274C>T (p.Ala2425Val)
|
rs371361208
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.7296A>G (p.Lys2432=)
|
rs374320265
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.7940C>T (p.Ser2647Leu)
|
rs202140926
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.9252G>A (p.Pro3084=)
|
rs371595122
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.938+20T>C
|
rs1391242118
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.93C>T (p.Ala31=)
|
rs200942752
|
0.00006
|
|
NM_002601.4(PDE6D):c.201G>A (p.Ser67=)
|
rs764377846
|
0.00006
|
|
NM_002601.4(PDE6D):c.408C>T (p.Asp136=)
|
rs547505745
|
0.00006
|
|
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)
|
rs797045846
|
0.00006
|
|
NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp)
|
rs149790559
|
0.00006
|
|
NM_003611.3(OFD1):c.282C>T (p.Phe94=)
|
rs762169661
|
0.00006
|
|
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys)
|
rs772233258
|
0.00006
|
|
NM_015631.6(TCTN3):c.1070A>G (p.Gln357Arg)
|
rs151123934
|
0.00006
|
|
NM_015631.6(TCTN3):c.326G>A (p.Cys109Tyr)
|
rs143758863
|
0.00006
|
|
NM_015631.6(TCTN3):c.970G>A (p.Val324Ile)
|
rs769275482
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.1191G>A (p.Met397Ile)
|
rs573982253
|
0.00005
|
|
NM_001384732.1(CPLANE1):c.1237G>A (p.Val413Ile)
|
rs758642292
|
0.00005
|
|
NM_001384732.1(CPLANE1):c.135G>T (p.Leu45Phe)
|
rs755773138
|
0.00005
|
|
NM_001384732.1(CPLANE1):c.1545C>T (p.Asn515=)
|
rs773819961
|
0.00005
|
|
NM_001384732.1(CPLANE1):c.3100A>G (p.Ile1034Val)
|
rs965483152
|
0.00005
|
|
NM_001384732.1(CPLANE1):c.3620T>C (p.Val1207Ala)
|
rs763642816
|
0.00005
|
|
NM_001384732.1(CPLANE1):c.3897A>G (p.Ala1299=)
|
rs372380629
|
0.00005
|
|
NM_001384732.1(CPLANE1):c.5099G>T (p.Arg1700Ile)
|
rs190100945
|
0.00005
|
|
NM_001384732.1(CPLANE1):c.532_534del (p.Lys178del)
|
rs886043021
|
0.00005
|
|
NM_001384732.1(CPLANE1):c.6123G>A (p.Ser2041=)
|
rs369977822
|
0.00005
|
|
NM_001384732.1(CPLANE1):c.7099A>G (p.Lys2367Glu)
|
rs778278672
|
0.00005
|
|
NM_001384732.1(CPLANE1):c.7958A>G (p.Tyr2653Cys)
|
rs371374142
|
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.9412C>G (p.Pro3138Ala)
|
rs144467995
|
0.00005
|
|
NM_002601.4(PDE6D):c.174A>G (p.Ala58=)
|
rs139835658
|
0.00005
|
|
NM_003611.3(OFD1):c.1347A>G (p.Ala449=)
|
rs151287373
|
0.00005
|
|
NM_003611.3(OFD1):c.2489-13G>A
|
rs377737395
|
0.00005
|
|
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln)
|
rs371848382
|
0.00005
|
|
NM_015631.6(TCTN3):c.1096-13C>T
|
rs372991715
|
0.00005
|
|
NM_015631.6(TCTN3):c.1452+17A>G
|
rs376162804
|
0.00005
|
|
NM_015631.6(TCTN3):c.1591-4G>A
|
rs376757601
|
0.00005
|
|
NM_015631.6(TCTN3):c.165A>C (p.Ala55=)
|
rs1385808173
|
0.00005
|
|
NM_015631.6(TCTN3):c.1680C>T (p.Pro560=)
|
rs761227686
|
0.00005
|
|
NM_015631.6(TCTN3):c.488A>G (p.His163Arg)
|
rs376756059
|
0.00005
|
|
NM_015631.6(TCTN3):c.627+6C>T
|
rs190843846
|
0.00005
|
|
NM_015631.6(TCTN3):c.888+10T>C
|
rs746513472
|
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.1939C>T (p.His647Tyr)
|
rs775827684
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter)
|
rs863225163
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.2544G>C (p.Gln848His)
|
rs199749415
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.2611C>T (p.Arg871Cys)
|
rs760906097
|
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.4096G>A (p.Val1366Met)
|
rs781367784
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.4633C>T (p.Arg1545Cys)
|
rs775743007
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.5203T>G (p.Leu1735Val)
|
rs369286097
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.5311T>C (p.Tyr1771His)
|
rs748355456
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.5410G>T (p.Ala1804Ser)
|
rs181490574
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala)
|
rs370118778
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.7154C>T (p.Thr2385Ile)
|
rs369361493
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.7578C>T (p.Asp2526=)
|
rs561079089
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.7589-12A>C
|
rs767934439
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.7764G>A (p.Met2588Ile)
|
rs760750533
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.8120-6A>G
|
rs373606578
|
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.8872C>T (p.Arg2958Ter)
|
rs141507441
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.8930A>G (p.His2977Arg)
|
rs767695592
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.9063C>T (p.Tyr3021=)
|
rs377142277
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.9374C>T (p.Thr3125Met)
|
rs775560336
|
0.00004
|
|
NM_002601.4(PDE6D):c.364G>A (p.Val122Ile)
|
rs766118708
|
0.00004
|
|
NM_002601.4(PDE6D):c.50+16C>A
|
rs993589615
|
0.00004
|
|
NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys)
|
rs1374240720
|
0.00004
|
|
NM_003611.3(OFD1):c.1172C>T (p.Ser391Leu)
|
rs1376766768
|
0.00004
|
|
NM_003611.3(OFD1):c.1490A>C (p.His497Pro)
|
rs772474080
|
0.00004
|
|
NM_003611.3(OFD1):c.2239G>A (p.Glu747Lys)
|
rs761915805
|
0.00004
|
|
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)
|
rs756793358
|
0.00004
|
|
NM_015631.6(TCTN3):c.1327C>T (p.Gln443Ter)
|
rs387907273
|
0.00004
|
|
NM_015631.6(TCTN3):c.1438C>T (p.His480Tyr)
|
rs200151165
|
0.00004
|
|
NM_015631.6(TCTN3):c.1520dup (p.Gly508fs)
|
rs755903123
|
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.1591-12T>C
|
rs373643964
|
0.00004
|
|
NM_015631.6(TCTN3):c.381-19C>G
|
rs759096352
|
0.00004
|
|
NM_015631.6(TCTN3):c.56G>A (p.Gly19Asp)
|
rs375924713
|
0.00004
|
|
NM_015631.6(TCTN3):c.627+18G>A
|
rs763302632
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.1055C>T (p.Thr352Ile)
|
rs1443893630
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.113A>C (p.Lys38Thr)
|
rs1043094880
|
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.2354G>A (p.Arg785Gln)
|
rs535811932
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys)
|
rs1012462823
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.2815G>A (p.Val939Ile)
|
rs1048318459
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.2902C>T (p.Pro968Ser)
|
rs980413221
|
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.3364G>A (p.Asp1122Asn)
|
rs775457117
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu)
|
rs375009168
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.4055T>C (p.Ile1352Thr)
|
rs759005825
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.4123G>A (p.Val1375Met)
|
rs546036802
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.4156C>T (p.Leu1386Phe)
|
rs769304117
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.4427C>T (p.Thr1476Met)
|
rs1396140286
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.4678T>C (p.Tyr1560His)
|
rs772945484
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.5141C>T (p.Thr1714Ile)
|
rs1424442518
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.570+12C>T
|
rs1339498232
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.5733T>G (p.Tyr1911Ter)
|
rs770770257
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.6027G>T (p.Leu2009=)
|
rs772082205
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.6538C>G (p.Gln2180Glu)
|
rs138088605
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.6903G>C (p.Lys2301Asn)
|
rs765445066
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.6937A>G (p.Asn2313Asp)
|
rs150094586
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.7080G>A (p.Pro2360=)
|
rs769298457
|
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.8679G>A (p.Pro2893=)
|
rs370303703
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.8746T>C (p.Ser2916Pro)
|
rs139554617
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.8873G>A (p.Arg2958Gln)
|
rs533791946
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.9038A>G (p.Tyr3013Cys)
|
rs143453963
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.9043C>T (p.Arg3015Cys)
|
rs138862600
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter)
|
rs150242262
|
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.9679G>T (p.Asp3227Tyr)
|
rs374776325
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met)
|
rs373704405
|
0.00003
|
|
NM_002601.4(PDE6D):c.182G>A (p.Arg61Gln)
|
rs770557397
|
0.00003
|
|
NM_002601.4(PDE6D):c.39G>A (p.Arg13=)
|
rs1030531605
|
0.00003
|
|
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val)
|
rs779051357
|
0.00003
|
|
NM_003611.3(OFD1):c.2928+7G>A
|
rs912239987
|
0.00003
|
|
NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn)
|
rs762218314
|
0.00003
|
|
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)
|
rs763219658
|
0.00003
|
|
NM_003611.3(OFD1):c.688A>G (p.Ile230Val)
|
rs770131832
|
0.00003
|
|
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)
|
rs778349684
|
0.00003
|
|
NM_015631.6(TCTN3):c.101C>A (p.Thr34Lys)
|
rs2097956188
|
0.00003
|
|
NM_015631.6(TCTN3):c.1068dup (p.Gln357fs)
|
rs2492748621
|
0.00003
|
|
NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys)
|
rs777277759
|
0.00003
|
|
NM_015631.6(TCTN3):c.1134T>G (p.Pro378=)
|
rs771848227
|
0.00003
|
|
NM_015631.6(TCTN3):c.1268G>A (p.Gly423Glu)
|
rs535199429
|
0.00003
|
|
NM_015631.6(TCTN3):c.153A>G (p.Ser51=)
|
rs937027387
|
0.00003
|
|
NM_015631.6(TCTN3):c.178G>A (p.Val60Met)
|
rs557962090
|
0.00003
|
|
NM_015631.6(TCTN3):c.1812A>G (p.Leu604=)
|
rs925465728
|
0.00003
|
|
NM_015631.6(TCTN3):c.18C>T (p.Leu6=)
|
rs879694012
|
0.00003
|
|
NM_015631.6(TCTN3):c.48C>A (p.Phe16Leu)
|
rs1382410134
|
0.00003
|
|
NM_015631.6(TCTN3):c.628-10T>C
|
rs560691212
|
0.00003
|
|
NM_015631.6(TCTN3):c.801C>T (p.Thr267=)
|
rs371440397
|
0.00003
|
|
NM_015631.6(TCTN3):c.853-2A>G
|
rs1174698466
|
0.00003
|
|
NM_015631.6(TCTN3):c.958G>T (p.Val320Leu)
|
rs1032919947
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.1348T>G (p.Tyr450Asp)
|
rs1204605921
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.1396C>T (p.Arg466Ter)
|
rs201292596
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.1397G>A (p.Arg466Gln)
|
rs868467543
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe)
|
rs372187548
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.1623A>G (p.Glu541=)
|
rs1420586506
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.2185A>G (p.Ile729Val)
|
rs1010091096
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.2479T>A (p.Leu827Ile)
|
rs2548546249
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.3245T>C (p.Leu1082Ser)
|
rs943993886
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.3450C>T (p.Phe1150=)
|
rs200449169
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.3508-19A>G
|
rs754906346
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.3520G>T (p.Asp1174Tyr)
|
rs760601336
|
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.374A>G (p.Asn125Ser)
|
rs766935499
|
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.4634G>A (p.Arg1545His)
|
rs765457523
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter)
|
rs367543063
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.5066A>G (p.Gln1689Arg)
|
rs761691903
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp)
|
rs200444162
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter)
|
rs766699868
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.5738-5G>A
|
rs570312147
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.5960C>T (p.Thr1987Met)
|
rs141126113
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.6259T>A (p.Ser2087Thr)
|
rs1026851353
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.6462G>A (p.Gln2154=)
|
rs766216326
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.646C>T (p.Arg216Trp)
|
rs543556323
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.6511C>T (p.Arg2171Trp)
|
rs371324866
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.6644A>G (p.His2215Arg)
|
rs556705113
|
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.8602A>T (p.Ser2868Cys)
|
rs780136856
|
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_002601.4(PDE6D):c.222C>T (p.Phe74=)
|
rs370483161
|
0.00002
|
|
NM_002601.4(PDE6D):c.363C>T (p.Ser121=)
|
rs1206823310
|
0.00002
|
|
NM_002601.4(PDE6D):c.405C>T (p.Asp135=)
|
rs373459369
|
0.00002
|
|
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser)
|
rs532274932
|
0.00002
|
|
NM_003611.3(OFD1):c.2022C>A (p.His674Gln)
|
rs759693810
|
0.00002
|
|
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys)
|
rs1260959326
|
0.00002
|
|
NM_003611.3(OFD1):c.2270G>C (p.Arg757Thr)
|
rs1329019794
|
0.00002
|
|
NM_003611.3(OFD1):c.2304C>A (p.Asp768Glu)
|
rs1285657350
|
0.00002
|
|
NM_003611.3(OFD1):c.353A>C (p.Asn118Thr)
|
rs761683644
|
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_003611.3(OFD1):c.795G>A (p.Lys265=)
|
rs745443262
|
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.1164G>C (p.Gly388=)
|
rs759892719
|
0.00002
|
|
NM_015631.6(TCTN3):c.11C>T (p.Pro4Leu)
|
rs1399269953
|
0.00002
|
|
NM_015631.6(TCTN3):c.1298+16C>T
|
rs777492522
|
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.1539G>A (p.Pro513=)
|
rs1026823695
|
0.00002
|
|
NM_015631.6(TCTN3):c.1576T>C (p.Cys526Arg)
|
rs749117268
|
0.00002
|
|
NM_015631.6(TCTN3):c.1591-9T>G
|
rs1317879597
|
0.00002
|
|
NM_015631.6(TCTN3):c.1591G>A (p.Asp531Asn)
|
rs143735885
|
0.00002
|
|
NM_015631.6(TCTN3):c.1606A>G (p.Thr536Ala)
|
rs1290852650
|
0.00002
|
|
NM_015631.6(TCTN3):c.1607C>T (p.Thr536Ile)
|
rs768523448
|
0.00002
|
|
NM_015631.6(TCTN3):c.16C>G (p.Leu6Val)
|
rs759598264
|
0.00002
|
|
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile)
|
rs745688122
|
0.00002
|
|
NM_015631.6(TCTN3):c.412G>A (p.Val138Ile)
|
rs1281199624
|
0.00002
|
|
NM_015631.6(TCTN3):c.499+5G>T
|
rs1242330719
|
0.00002
|
|
NM_015631.6(TCTN3):c.536A>G (p.Asn179Ser)
|
rs943000517
|
0.00002
|
|
NM_015631.6(TCTN3):c.889-18G>C
|
rs1254012662
|
0.00002
|
|
NM_015631.6(TCTN3):c.931C>T (p.Leu311=)
|
rs774592467
|
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.1103A>G (p.His368Arg)
|
rs1286291749
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.1115C>T (p.Thr372Met)
|
rs1046843624
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.1121+7C>T
|
rs776591358
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.1288T>C (p.Ser430Pro)
|
rs539526918
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.139T>A (p.Ser47Thr)
|
rs952769625
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.1415G>A (p.Arg472Lys)
|
rs1187221964
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.1445A>T (p.Glu482Val)
|
rs1290792126
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.1546G>A (p.Glu516Lys)
|
rs772553650
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.1828C>T (p.Gln610Ter)
|
rs1200574734
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.1877del (p.Ser626fs)
|
rs1327245073
|
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.2208T>C (p.Ser736=)
|
rs1561663335
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.2291+8C>T
|
rs1454521743
|
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.2428T>G (p.Cys810Gly)
|
rs886060581
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter)
|
rs1554117456
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.2500+1G>A
|
rs1796033726
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.2501-7T>C
|
rs1315683149
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.2504A>G (p.Glu835Gly)
|
rs1795997317
|
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.2689G>A (p.Ala897Thr)
|
rs1795324635
|
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.2920+5T>C
|
rs753188575
|
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.2938A>C (p.Ile980Leu)
|
rs956289118
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.2939T>C (p.Ile980Thr)
|
rs1160747089
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.2949A>G (p.Gln983=)
|
rs760920452
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.2999G>T (p.Trp1000Leu)
|
rs773362418
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.3040C>G (p.Leu1014Val)
|
rs969126655
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.3155A>G (p.Lys1052Arg)
|
rs754271101
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.3234A>G (p.Gln1078=)
|
rs756432435
|
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.3626A>G (p.Gln1209Arg)
|
rs762591555
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.364G>A (p.Val122Ile)
|
rs1404949478
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.3673-1G>C
|
rs886041688
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.368C>A (p.Ser123Tyr)
|
rs957027661
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.3770C>A (p.Ala1257Asp)
|
rs527328313
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.3859G>C (p.Asp1287His)
|
rs606231261
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg)
|
rs869312898
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs)
|
rs1398880084
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.4175A>G (p.His1392Arg)
|
rs753392667
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.4230T>C (p.Ser1410=)
|
rs571145214
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.4394_4397dup (p.Asp1467fs)
|
rs1333914993
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.4461T>G (p.Ser1487Arg)
|
rs1023003480
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.4482-1G>T
|
rs774492992
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.4525A>G (p.Thr1509Ala)
|
rs1408591861
|
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.4892C>T (p.Ser1631Leu)
|
rs748759724
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.4907A>T (p.Asp1636Val)
|
rs747558469
|
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.5190A>G (p.Gln1730=)
|
rs780331230
|
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.5783C>G (p.Ala1928Gly)
|
rs190242054
|
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.5968G>A (p.Glu1990Lys)
|
rs769946295
|
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.6064G>C (p.Ala2022Pro)
|
rs779755677
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.6100A>G (p.Thr2034Ala)
|
rs1228475615
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.6108G>C (p.Gln2036His)
|
rs759938964
|
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.6274T>G (p.Leu2092Val)
|
rs915755841
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.6275T>C (p.Leu2092Ser)
|
rs558551880
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.6309T>G (p.Cys2103Trp)
|
rs749862200
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.6463-17T>C
|
rs753835579
|
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.6715C>T (p.Leu2239Phe)
|
rs1462556319
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.6724C>A (p.His2242Asn)
|
rs752372376
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.677+1G>C
|
rs1414913269
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.6815C>T (p.Pro2272Leu)
|
rs777757781
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.718C>T (p.His240Tyr)
|
rs778771073
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7331G>A (p.Gly2444Glu)
|
rs751548147
|
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.7401-14A>G
|
rs1052354484
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7428G>T (p.Leu2476=)
|
rs145750519
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.745G>C (p.Glu249Gln)
|
rs757197770
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)
|
rs139675596
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7478G>A (p.Arg2493Gln)
|
rs183942272
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7506T>G (p.Asp2502Glu)
|
rs1267264302
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7576G>A (p.Asp2526Asn)
|
rs535480596
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7588+7A>G
|
rs773662834
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7588+8T>C
|
rs377295986
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7641A>G (p.Val2547=)
|
rs771793682
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7736A>G (p.Tyr2579Cys)
|
rs771614298
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7760A>G (p.Glu2587Gly)
|
rs766541647
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7789A>G (p.Ile2597Val)
|
rs774074728
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)
|
rs749523755
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7901A>G (p.Asn2634Ser)
|
rs375351922
|
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.7964C>T (p.Ala2655Val)
|
rs778345084
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.817A>C (p.Asn273His)
|
rs863225167
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.8314G>A (p.Ala2772Thr)
|
rs761984446
|
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.8461+19G>A
|
rs772961080
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.8581G>A (p.Asp2861Asn)
|
rs748445168
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.8633-3T>A
|
rs1561376157
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.8770G>T (p.Glu2924Ter)
|
rs863225155
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.8830G>C (p.Asp2944His)
|
rs761880579
|
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.9039T>C (p.Tyr3013=)
|
rs1030945020
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.9075T>A (p.Asn3025Lys)
|
rs573500656
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.9146C>T (p.Thr3049Ile)
|
rs767189816
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.9431A>G (p.His3144Arg)
|
rs754053320
|
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.114del (p.Ser39fs)
|
rs772392692
|
0.00001
|
|
NM_002601.4(PDE6D):c.139+14C>G
|
rs779721794
|
0.00001
|
|
NM_002601.4(PDE6D):c.139+20C>G
|
rs12620711
|
0.00001
|
|
NM_002601.4(PDE6D):c.181C>T (p.Arg61Ter)
|
rs536550976
|
0.00001
|
|
NM_002601.4(PDE6D):c.298A>G (p.Asn100Asp)
|
rs2469686981
|
0.00001
|
|
NM_002601.4(PDE6D):c.33C>T (p.Ile11=)
|
rs769953849
|
0.00001
|
|
NM_002601.4(PDE6D):c.359C>A (p.Ala120Glu)
|
rs1430956453
|
0.00001
|
|
NM_002601.4(PDE6D):c.50+11G>C
|
rs758184957
|
0.00001
|
|
NM_002601.4(PDE6D):c.50+18G>A
|
rs747869732
|
0.00001
|
|
NM_002601.4(PDE6D):c.67C>A (p.Arg23=)
|
rs570163390
|
0.00001
|
|
NM_002601.4(PDE6D):c.68G>A (p.Arg23Gln)
|
rs765707721
|
0.00001
|
|
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys)
|
rs758712291
|
0.00001
|
|
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)
|
rs758903488
|
0.00001
|
|
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln)
|
rs312262864
|
0.00001
|
|
NM_003611.3(OFD1):c.1421A>C (p.Gln474Pro)
|
rs758293823
|
0.00001
|
|
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys)
|
rs1454731121
|
0.00001
|
|
NM_003611.3(OFD1):c.149A>G (p.His50Arg)
|
rs863225213
|
0.00001
|
|
NM_003611.3(OFD1):c.1942G>T (p.Ala648Ser)
|
rs2047881997
|
0.00001
|
|
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile)
|
rs773224811
|
0.00001
|
|
NM_003611.3(OFD1):c.2140G>A (p.Val714Met)
|
rs797045845
|
0.00001
|
|
NM_003611.3(OFD1):c.2197C>T (p.Arg733Cys)
|
rs1376239977
|
0.00001
|
|
NM_003611.3(OFD1):c.2261G>A (p.Gly754Asp)
|
rs190688700
|
0.00001
|
|
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe)
|
rs774888576
|
0.00001
|
|
NM_003611.3(OFD1):c.2351T>G (p.Ile784Ser)
|
rs2047912842
|
0.00001
|
|
NM_003611.3(OFD1):c.2519T>C (p.Met840Thr)
|
rs941770640
|
0.00001
|
|
NM_003611.3(OFD1):c.2609A>G (p.Gln870Arg)
|
rs758641332
|
0.00001
|
|
NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys)
|
rs769469366
|
0.00001
|
|
NM_003611.3(OFD1):c.2918C>T (p.Ser973Leu)
|
rs1801618
|
0.00001
|
|
NM_003611.3(OFD1):c.358A>G (p.Thr120Ala)
|
rs755625951
|
0.00001
|
|
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg)
|
rs1158126675
|
0.00001
|
|
NM_003611.3(OFD1):c.762A>C (p.Gln254His)
|
rs775148893
|
0.00001
|
|
NM_003611.3(OFD1):c.797G>C (p.Ser266Thr)
|
rs1354561362
|
0.00001
|
|
NM_003611.3(OFD1):c.935+4A>G
|
rs1243725011
|
0.00001
|
|
NM_015631.6(TCTN3):c.1029G>A (p.Leu343=)
|
rs781247420
|
0.00001
|
|
NM_015631.6(TCTN3):c.1048G>A (p.Val350Ile)
|
rs766406328
|
0.00001
|
|
NM_015631.6(TCTN3):c.1065C>G (p.Ser355=)
|
rs2139742208
|
0.00001
|
|
NM_015631.6(TCTN3):c.107T>C (p.Leu36Ser)
|
rs1242296012
|
0.00001
|
|
NM_015631.6(TCTN3):c.1088G>A (p.Arg363His)
|
rs1267547707
|
0.00001
|
|
NM_015631.6(TCTN3):c.1096-17C>T
|
rs1589615067
|
0.00001
|
|
NM_015631.6(TCTN3):c.1111A>G (p.Thr371Ala)
|
rs768480385
|
0.00001
|
|
NM_015631.6(TCTN3):c.1139G>C (p.Ser380Thr)
|
rs1440931115
|
0.00001
|
|
NM_015631.6(TCTN3):c.1160T>C (p.Val387Ala)
|
rs756610295
|
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.1203+1G>C
|
rs1221992171
|
0.00001
|
|
NM_015631.6(TCTN3):c.1203+20G>A
|
rs772081563
|
0.00001
|
|
NM_015631.6(TCTN3):c.1203A>G (p.Ser401=)
|
rs775201476
|
0.00001
|
|
NM_015631.6(TCTN3):c.121G>A (p.Gly41Arg)
|
rs1194762228
|
0.00001
|
|
NM_015631.6(TCTN3):c.1224_1226del (p.Gln408_Gly409delinsHis)
|
rs771545094
|
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.1298+12C>T
|
rs199595065
|
0.00001
|
|
NM_015631.6(TCTN3):c.1298+17G>A
|
rs776775920
|
0.00001
|
|
NM_015631.6(TCTN3):c.1299-19C>T
|
rs751339831
|
0.00001
|
|
NM_015631.6(TCTN3):c.1299-4A>G
|
rs1488219810
|
0.00001
|
|
NM_015631.6(TCTN3):c.1338T>A (p.Ile446=)
|
rs2097944339
|
0.00001
|
|
NM_015631.6(TCTN3):c.1346C>G (p.Thr449Ser)
|
rs775556315
|
0.00001
|
|
NM_015631.6(TCTN3):c.1381A>G (p.Ile461Val)
|
rs747613046
|
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.1467T>C (p.Thr489=)
|
rs1438043048
|
0.00001
|
|
NM_015631.6(TCTN3):c.1469C>T (p.Ser490Phe)
|
rs759717531
|
0.00001
|
|
NM_015631.6(TCTN3):c.1489T>G (p.Ser497Ala)
|
rs2097942002
|
0.00001
|
|
NM_015631.6(TCTN3):c.1513G>A (p.Ala505Thr)
|
rs376520003
|
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.1590+15A>G
|
rs781078051
|
0.00001
|
|
NM_015631.6(TCTN3):c.1590+8A>G
|
rs748135693
|
0.00001
|
|
NM_015631.6(TCTN3):c.1592A>T (p.Asp531Val)
|
rs747933488
|
0.00001
|
|
NM_015631.6(TCTN3):c.1596T>C (p.Ser532=)
|
rs781164369
|
0.00001
|
|
NM_015631.6(TCTN3):c.1606_1611del (p.Thr536_Glu537del)
|
rs891059654
|
0.00001
|
|
NM_015631.6(TCTN3):c.1608A>G (p.Thr536=)
|
rs1566062750
|
0.00001
|
|
NM_015631.6(TCTN3):c.1669A>G (p.Arg557Gly)
|
rs754193676
|
0.00001
|
|
NM_015631.6(TCTN3):c.1704C>T (p.Phe568=)
|
rs527640694
|
0.00001
|
|
NM_015631.6(TCTN3):c.1755A>T (p.Lys585Asn)
|
rs776341556
|
0.00001
|
|
NM_015631.6(TCTN3):c.1771A>T (p.Ile591Phe)
|
rs746968875
|
0.00001
|
|
NM_015631.6(TCTN3):c.1772T>C (p.Ile591Thr)
|
rs2097923898
|
0.00001
|
|
NM_015631.6(TCTN3):c.1792C>T (p.Leu598=)
|
rs201503285
|
0.00001
|
|
NM_015631.6(TCTN3):c.1796T>G (p.Leu599Arg)
|
rs1291662541
|
0.00001
|
|
NM_015631.6(TCTN3):c.17T>C (p.Leu6Pro)
|
rs990875124
|
0.00001
|
|
NM_015631.6(TCTN3):c.181C>A (p.Pro61Thr)
|
rs999127884
|
0.00001
|
|
NM_015631.6(TCTN3):c.201C>T (p.Val67=)
|
rs2097955925
|
0.00001
|
|
NM_015631.6(TCTN3):c.222G>A (p.Ser74=)
|
rs913092788
|
0.00001
|
|
NM_015631.6(TCTN3):c.223G>A (p.Ala75Thr)
|
rs1391185443
|
0.00001
|
|
NM_015631.6(TCTN3):c.256+14T>C
|
rs1353426530
|
0.00001
|
|
NM_015631.6(TCTN3):c.257-13C>G
|
rs768606622
|
0.00001
|
|
NM_015631.6(TCTN3):c.261A>G (p.Leu87=)
|
rs1191521481
|
0.00001
|
|
NM_015631.6(TCTN3):c.265A>T (p.Ile89Phe)
|
rs1263060396
|
0.00001
|
|
NM_015631.6(TCTN3):c.295T>C (p.Cys99Arg)
|
rs2492790965
|
0.00001
|
|
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr)
|
rs2139767280
|
0.00001
|
|
NM_015631.6(TCTN3):c.323A>G (p.Asp108Gly)
|
rs1327911768
|
0.00001
|
|
NM_015631.6(TCTN3):c.324C>T (p.Asp108=)
|
rs566756038
|
0.00001
|
|
NM_015631.6(TCTN3):c.380+16C>A
|
rs1012801289
|
0.00001
|
|
NM_015631.6(TCTN3):c.381-13T>A
|
rs1372047585
|
0.00001
|
|
NM_015631.6(TCTN3):c.381-17C>T
|
rs1317078515
|
0.00001
|
|
NM_015631.6(TCTN3):c.381-3C>T
|
rs546476903
|
0.00001
|
|
NM_015631.6(TCTN3):c.381-9T>C
|
rs1266523047
|
0.00001
|
|
NM_015631.6(TCTN3):c.480T>C (p.Phe160=)
|
rs751951666
|
0.00001
|
|
NM_015631.6(TCTN3):c.489T>C (p.His163=)
|
rs372134545
|
0.00001
|
|
NM_015631.6(TCTN3):c.491T>C (p.Val164Ala)
|
rs1314557393
|
0.00001
|
|
NM_015631.6(TCTN3):c.499+11A>G
|
rs1428675552
|
0.00001
|
|
NM_015631.6(TCTN3):c.499+18G>A
|
rs1386147381
|
0.00001
|
|
NM_015631.6(TCTN3):c.500-14A>T
|
rs757401240
|
0.00001
|
|
NM_015631.6(TCTN3):c.507A>G (p.Leu169=)
|
rs1566075059
|
0.00001
|
|
NM_015631.6(TCTN3):c.531G>A (p.Lys177=)
|
rs199774247
|
0.00001
|
|
NM_015631.6(TCTN3):c.549C>T (p.Phe183=)
|
rs1403001274
|
0.00001
|
|
NM_015631.6(TCTN3):c.554C>T (p.Ala185Val)
|
rs888815068
|
0.00001
|
|
NM_015631.6(TCTN3):c.570T>G (p.Phe190Leu)
|
rs1449792057
|
0.00001
|
|
NM_015631.6(TCTN3):c.606A>G (p.Gln202=)
|
rs777642622
|
0.00001
|
|
NM_015631.6(TCTN3):c.61C>T (p.Arg21Trp)
|
rs2097956260
|
0.00001
|
|
NM_015631.6(TCTN3):c.627+1G>A
|
rs1566074908
|
0.00001
|
|
NM_015631.6(TCTN3):c.628-4T>C
|
rs1321301372
|
0.00001
|
|
NM_015631.6(TCTN3):c.628G>T (p.Ala210Ser)
|
rs541135431
|
0.00001
|
|
NM_015631.6(TCTN3):c.6C>A (p.Arg2=)
|
rs1395472461
|
0.00001
|
|
NM_015631.6(TCTN3):c.705T>C (p.Ala235=)
|
rs1251898935
|
0.00001
|
|
NM_015631.6(TCTN3):c.766A>G (p.Thr256Ala)
|
rs780438906
|
0.00001
|
|
NM_015631.6(TCTN3):c.780G>C (p.Lys260Asn)
|
rs757700628
|
0.00001
|
|
NM_015631.6(TCTN3):c.793dup (p.Ser265fs)
|
rs2492760878
|
0.00001
|
|
NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser)
|
rs762720849
|
0.00001
|
|
NM_015631.6(TCTN3):c.82C>G (p.Pro28Ala)
|
rs897344363
|
0.00001
|
|
NM_015631.6(TCTN3):c.852+4G>A
|
rs2139748541
|
0.00001
|
|
NM_015631.6(TCTN3):c.853G>A (p.Val285Ile)
|
rs1351530754
|
0.00001
|
|
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter)
|
rs764091969
|
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.889-15T>G
|
rs760597184
|
0.00001
|
|
NM_015631.6(TCTN3):c.889-9C>T
|
rs924437747
|
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
|
|
NM_015631.6(TCTN3):c.92C>A (p.Ala31Glu)
|
rs2097956191
|
0.00001
|
|
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)
|
rs793888508
|
0.00001
|
|
NM_015631.6(TCTN3):c.945C>T (p.Asn315=)
|
rs763364836
|
0.00001
|
|
NM_015631.6(TCTN3):c.957T>G (p.Asn319Lys)
|
rs1176554738
|
0.00001
|
|
NM_015631.6(TCTN3):c.9C>A (p.Thr3=)
|
rs1471002377
|
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_000002.11:g.(?_232645755)_(232645824_?)del
|
|
|
|
NC_000010.10:g.(?_97440209)_(97440386_?)del
|
|
|
|
NC_000010.10:g.(?_97442388)_(97516032_?)dup
|
|
|
|
NC_000010.10:g.(?_97452751)_(97453767_?)del
|
|
|
|
NC_000010.11:g.95682805del
|
|
|
|
NM_001378615.1(CC2D2A):c.4555T>C (p.Trp1519Arg)
|
rs1577406415
|
|
|
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.1003C>T (p.Arg335Cys)
|
|
|
|
NM_001384732.1(CPLANE1):c.1055C>A (p.Thr352Lys)
|
rs1443893630
|
|
|
NM_001384732.1(CPLANE1):c.1063T>C (p.Cys355Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.1121+1G>A
|
|
|
|
NM_001384732.1(CPLANE1):c.1121+1G>T
|
|
|
|
NM_001384732.1(CPLANE1):c.1308A>T (p.Arg436Ser)
|
|
|
|
NM_001384732.1(CPLANE1):c.1310C>T (p.Ser437Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.1311A>G (p.Ser437=)
|
rs761587080
|
|
|
NM_001384732.1(CPLANE1):c.1336C>T (p.Leu446Phe)
|
|
|
|
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.1372-2A>G
|
rs886043786
|
|
|
NM_001384732.1(CPLANE1):c.1383_1384dup (p.Gly462fs)
|
rs1796678879
|
|
|
NM_001384732.1(CPLANE1):c.1388_1389delinsCT (p.Leu463Pro)
|
rs2150449247
|
|
|
NM_001384732.1(CPLANE1):c.1394del (p.Leu465fs)
|
rs1280425167
|
|
|
NM_001384732.1(CPLANE1):c.1405A>C (p.Asn469His)
|
|
|
|
NM_001384732.1(CPLANE1):c.1433A>G (p.His478Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.1434C>G (p.His478Gln)
|
|
|
|
NM_001384732.1(CPLANE1):c.1435C>G (p.Gln479Glu)
|
rs1359820021
|
|
|
NM_001384732.1(CPLANE1):c.1522-16dup
|
rs370335300
|
|
|
NM_001384732.1(CPLANE1):c.1572dup (p.Cys525fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.1574G>A (p.Cys525Tyr)
|
|
|
|
NM_001384732.1(CPLANE1):c.1639G>A (p.Ala547Thr)
|
|
|
|
NM_001384732.1(CPLANE1):c.169C>A (p.Leu57Met)
|
|
|
|
NM_001384732.1(CPLANE1):c.1722A>T (p.Lys574Asn)
|
|
|
|
NM_001384732.1(CPLANE1):c.1740G>C (p.Trp580Cys)
|
|
|
|
NM_001384732.1(CPLANE1):c.1745T>C (p.Ile582Thr)
|
rs1260722151
|
|
|
NM_001384732.1(CPLANE1):c.1817T>G (p.Phe606Cys)
|
rs2150438911
|
|
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
|
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)
|
rs777686211
|
|
|
NM_001384732.1(CPLANE1):c.1823T>G (p.Ile608Ser)
|
rs1194762831
|
|
|
NM_001384732.1(CPLANE1):c.1839A>G (p.Lys613=)
|
rs533310477
|
|
|
NM_001384732.1(CPLANE1):c.1873A>C (p.Lys625Gln)
|
|
|
|
NM_001384732.1(CPLANE1):c.1885C>G (p.His629Asp)
|
|
|
|
NM_001384732.1(CPLANE1):c.1903T>C (p.Cys635Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.190G>T (p.Val64Phe)
|
rs965197100
|
|
|
NM_001384732.1(CPLANE1):c.1921C>T (p.His641Tyr)
|
|
|
|
NM_001384732.1(CPLANE1):c.1966G>A (p.Asp656Asn)
|
|
|
|
NM_001384732.1(CPLANE1):c.2008C>G (p.Leu670Val)
|
|
|
|
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.2083G>A (p.Val695Ile)
|
|
|
|
NM_001384732.1(CPLANE1):c.2101G>A (p.Gly701Ser)
|
|
|
|
NM_001384732.1(CPLANE1):c.216T>C (p.Asn72=)
|
rs2150827087
|
|
|
NM_001384732.1(CPLANE1):c.217+4A>G
|
|
|
|
NM_001384732.1(CPLANE1):c.2171delinsGGT (p.Ser724fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.2193G>A (p.Gln731=)
|
|
|
|
NM_001384732.1(CPLANE1):c.2200C>T (p.Gln734Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.2207G>A (p.Ser736Asn)
|
rs765826864
|
|
|
NM_001384732.1(CPLANE1):c.2218A>C (p.Lys740Gln)
|
|
|
|
NM_001384732.1(CPLANE1):c.2237C>T (p.Ser746Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.2269C>T (p.Pro757Ser)
|
|
|
|
NM_001384732.1(CPLANE1):c.2274_2275delinsTT (p.Gln759Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.2275C>T (p.Gln759Ter)
|
rs863225158
|
|
|
NM_001384732.1(CPLANE1):c.2278C>T (p.Gln760Ter)
|
rs762334514
|
|
|
NM_001384732.1(CPLANE1):c.2290A>C (p.Arg764=)
|
rs1580891168
|
|
|
NM_001384732.1(CPLANE1):c.2291+1G>A
|
rs2548575756
|
|
|
NM_001384732.1(CPLANE1):c.2291+2T>C
|
rs1051234664
|
|
|
NM_001384732.1(CPLANE1):c.2292-1G>A
|
rs1244119341
|
|
|
NM_001384732.1(CPLANE1):c.2307G>A (p.Trp769Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.2318A>C (p.Tyr773Ser)
|
|
|
|
NM_001384732.1(CPLANE1):c.2326dup (p.Thr776fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.2377_2380del (p.Ser792_Gln793insTer)
|
|
|
|
NM_001384732.1(CPLANE1):c.2379G>T (p.Gln793His)
|
|
|
|
NM_001384732.1(CPLANE1):c.2392A>G (p.Met798Val)
|
|
|
|
NM_001384732.1(CPLANE1):c.242C>A (p.Thr81Asn)
|
|
|
|
NM_001384732.1(CPLANE1):c.2430T>G (p.Cys810Trp)
|
|
|
|
NM_001384732.1(CPLANE1):c.2490_2494del (p.Lys830fs)
|
rs926409425
|
|
|
NM_001384732.1(CPLANE1):c.2499delinsCATAA (p.Gly834fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.250_251delinsAG (p.Glu84Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.2511T>A (p.Cys837Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.2558C>A (p.Ala853Asp)
|
rs886060580
|
|
|
NM_001384732.1(CPLANE1):c.2558C>G (p.Ala853Gly)
|
rs886060580
|
|
|
NM_001384732.1(CPLANE1):c.2582-11T>A
|
|
|
|
NM_001384732.1(CPLANE1):c.2599T>G (p.Phe867Val)
|
|
|
|
NM_001384732.1(CPLANE1):c.2601T>A (p.Phe867Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.2612G>A (p.Arg871His)
|
rs1157919882
|
|
|
NM_001384732.1(CPLANE1):c.2631A>T (p.Leu877Phe)
|
|
|
|
NM_001384732.1(CPLANE1):c.2647A>G (p.Ser883Gly)
|
|
|
|
NM_001384732.1(CPLANE1):c.2663A>G (p.Asp888Gly)
|
rs1487026046
|
|
|
NM_001384732.1(CPLANE1):c.2666C>T (p.Ala889Val)
|
rs2150361119
|
|
|
NM_001384732.1(CPLANE1):c.266A>G (p.Asn89Ser)
|
|
|
|
NM_001384732.1(CPLANE1):c.2709G>A (p.Trp903Ter)
|
rs863225164
|
|
|
NM_001384732.1(CPLANE1):c.2746+15_2746+16del
|
rs751625561
|
|
|
NM_001384732.1(CPLANE1):c.2746+16del
|
rs751625561
|
|
|
NM_001384732.1(CPLANE1):c.2746+16dup
|
rs751625561
|
|
|
NM_001384732.1(CPLANE1):c.2763_2764inv (p.His921_Phe922delinsGlnIle)
|
|
|
|
NM_001384732.1(CPLANE1):c.2826G>A (p.Met942Ile)
|
|
|
|
NM_001384732.1(CPLANE1):c.2846A>G (p.Tyr949Cys)
|
rs1287781089
|
|
|
NM_001384732.1(CPLANE1):c.2854_2855insCT (p.Asn952fs)
|
rs2548378897
|
|
|
NM_001384732.1(CPLANE1):c.2881C>T (p.His961Tyr)
|
|
|
|
NM_001384732.1(CPLANE1):c.2898del (p.Pro968fs)
|
rs1305821156
|
|
|
NM_001384732.1(CPLANE1):c.2924A>T (p.Gln975Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.292A>C (p.Ile98Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs)
|
rs1561601398
|
|
|
NM_001384732.1(CPLANE1):c.2953T>C (p.Ser985Pro)
|
|
|
|
NM_001384732.1(CPLANE1):c.3007G>T (p.Glu1003Ter)
|
rs863225162
|
|
|
NM_001384732.1(CPLANE1):c.3012T>A (p.Tyr1004Ter)
|
rs546670307
|
|
|
NM_001384732.1(CPLANE1):c.3019G>T (p.Glu1007Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.3053dup (p.Val1019fs)
|
rs2150128669
|
|
|
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
|
rs769934551
|
|
|
NM_001384732.1(CPLANE1):c.3101T>C (p.Ile1034Thr)
|
rs1404945116
|
|
|
NM_001384732.1(CPLANE1):c.3130_3131insA (p.Arg1044fs)
|
rs863225161
|
|
|
NM_001384732.1(CPLANE1):c.3149+14G>A
|
|
|
|
NM_001384732.1(CPLANE1):c.3150-1G>T
|
rs606231258
|
|
|
NM_001384732.1(CPLANE1):c.3182G>A (p.Arg1061His)
|
|
|
|
NM_001384732.1(CPLANE1):c.3213del (p.Lys1071fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.3285T>G (p.Phe1095Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.3289+1G>T
|
|
|
|
NM_001384732.1(CPLANE1):c.3290-2A>G
|
rs606231260
|
|
|
NM_001384732.1(CPLANE1):c.3291del (p.Ile1099fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.334G>T (p.Val112Phe)
|
|
|
|
NM_001384732.1(CPLANE1):c.3374T>C (p.Ile1125Thr)
|
|
|
|
NM_001384732.1(CPLANE1):c.3407del (p.Ser1136fs)
|
rs1561584225
|
|
|
NM_001384732.1(CPLANE1):c.3494C>T (p.Ala1165Val)
|
|
|
|
NM_001384732.1(CPLANE1):c.3507+1G>A
|
rs1580686235
|
|
|
NM_001384732.1(CPLANE1):c.3514G>C (p.Gly1172Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.3545A>G (p.Asn1182Ser)
|
|
|
|
NM_001384732.1(CPLANE1):c.3545del (p.Asn1182fs)
|
rs769153428
|
|
|
NM_001384732.1(CPLANE1):c.3557del (p.Lys1186fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.3583C>A (p.Leu1195Ile)
|
|
|
|
NM_001384732.1(CPLANE1):c.3596G>C (p.Arg1199Pro)
|
|
|
|
NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu)
|
rs141153181
|
|
|
NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val)
|
rs141153181
|
|
|
NM_001384732.1(CPLANE1):c.359T>C (p.Leu120Ser)
|
|
|
|
NM_001384732.1(CPLANE1):c.3611C>T (p.Ser1204Phe)
|
|
|
|
NM_001384732.1(CPLANE1):c.3636_3637del (p.Leu1213fs)
|
rs863225157
|
|
|
NM_001384732.1(CPLANE1):c.3673-8_3673-4del
|
rs1163206555
|
|
|
NM_001384732.1(CPLANE1):c.3709T>C (p.Phe1237Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.3733T>C (p.Cys1245Arg)
|
rs2548055219
|
|
|
NM_001384732.1(CPLANE1):c.3734G>A (p.Cys1245Tyr)
|
|
|
|
NM_001384732.1(CPLANE1):c.3777_3788del (p.His1260_Asp1263del)
|
rs566159499
|
|
|
NM_001384732.1(CPLANE1):c.3787G>A (p.Asp1263Asn)
|
|
|
|
NM_001384732.1(CPLANE1):c.3791A>G (p.Glu1264Gly)
|
rs1787268039
|
|
|
NM_001384732.1(CPLANE1):c.3809T>C (p.Ile1270Thr)
|
rs1466483851
|
|
|
NM_001384732.1(CPLANE1):c.3811+17C>T
|
|
|
|
NM_001384732.1(CPLANE1):c.3821G>A (p.Arg1274Lys)
|
|
|
|
NM_001384732.1(CPLANE1):c.3829dup (p.Cys1277fs)
|
rs1784470848
|
|
|
NM_001384732.1(CPLANE1):c.3832del (p.Ala1278fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.3835_3836del (p.Leu1279fs)
|
rs2547903295
|
|
|
NM_001384732.1(CPLANE1):c.3878G>A (p.Cys1293Tyr)
|
|
|
|
NM_001384732.1(CPLANE1):c.3934G>A (p.Glu1312Lys)
|
rs766614269
|
|
|
NM_001384732.1(CPLANE1):c.3959A>G (p.His1320Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.3980G>A (p.Trp1327Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.3982G>A (p.Ala1328Thr)
|
rs768480018
|
|
|
NM_001384732.1(CPLANE1):c.4014dup (p.Asn1339Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.4033C>T (p.Gln1345Ter)
|
rs1408712462
|
|
|
NM_001384732.1(CPLANE1):c.4080G>A (p.Lys1360=)
|
rs2547894387
|
|
|
NM_001384732.1(CPLANE1):c.4096G>C (p.Val1366Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.4153T>C (p.Ser1385Pro)
|
|
|
|
NM_001384732.1(CPLANE1):c.4189+1G>A
|
rs2547872345
|
|
|
NM_001384732.1(CPLANE1):c.4192C>T (p.Pro1398Ser)
|
|
|
|
NM_001384732.1(CPLANE1):c.4193C>T (p.Pro1398Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.4207A>G (p.Met1403Val)
|
|
|
|
NM_001384732.1(CPLANE1):c.4212G>A (p.Met1404Ile)
|
|
|
|
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.4314del (p.Glu1439fs)
|
rs1554084360
|
|
|
NM_001384732.1(CPLANE1):c.4357del (p.Leu1453fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.4379G>C (p.Ser1460Thr)
|
rs886060579
|
|
|
NM_001384732.1(CPLANE1):c.4469A>G (p.Asn1490Ser)
|
|
|
|
NM_001384732.1(CPLANE1):c.4470dup (p.Ile1491fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.4475A>T (p.Tyr1492Phe)
|
rs895907055
|
|
|
NM_001384732.1(CPLANE1):c.4481+4C>G
|
rs769785905
|
|
|
NM_001384732.1(CPLANE1):c.4498A>G (p.Met1500Val)
|
|
|
|
NM_001384732.1(CPLANE1):c.4499T>G (p.Met1500Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.4565C>A (p.Thr1522Lys)
|
|
|
|
NM_001384732.1(CPLANE1):c.4606C>T (p.Pro1536Ser)
|
|
|
|
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.466del (p.Ser156fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.4678T>A (p.Tyr1560Asn)
|
|
|
|
NM_001384732.1(CPLANE1):c.4681A>G (p.Ile1561Val)
|
|
|
|
NM_001384732.1(CPLANE1):c.4711del (p.Asp1571fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.4810C>T (p.Gln1604Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.4877A>G (p.Tyr1626Cys)
|
|
|
|
NM_001384732.1(CPLANE1):c.4973A>T (p.Lys1658Ile)
|
rs761598092
|
|
|
NM_001384732.1(CPLANE1):c.4984C>T (p.Gln1662Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.5002G>A (p.Val1668Ile)
|
|
|
|
NM_001384732.1(CPLANE1):c.5009A>T (p.Lys1670Met)
|
|
|
|
NM_001384732.1(CPLANE1):c.5015A>G (p.Glu1672Gly)
|
|
|
|
NM_001384732.1(CPLANE1):c.5018G>C (p.Gly1673Ala)
|
|
|
|
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.5095C>T (p.Gln1699Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.5100A>G (p.Arg1700=)
|
|
|
|
NM_001384732.1(CPLANE1):c.510del (p.Leu171fs)
|
rs779680371
|
|
|
NM_001384732.1(CPLANE1):c.510dup (p.Leu171fs)
|
rs779680371
|
|
|
NM_001384732.1(CPLANE1):c.5119dup (p.Trp1707fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.5150G>A (p.Cys1717Tyr)
|
rs765017990
|
|
|
NM_001384732.1(CPLANE1):c.521C>G (p.Ser174Cys)
|
|
|
|
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.5263A>G (p.Asn1755Asp)
|
rs142400753
|
|
|
NM_001384732.1(CPLANE1):c.5281G>A (p.Asp1761Asn)
|
|
|
|
NM_001384732.1(CPLANE1):c.5300C>A (p.Ser1767Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.5317C>G (p.Pro1773Ala)
|
|
|
|
NM_001384732.1(CPLANE1):c.5337del (p.Ser1780fs)
|
rs777045246
|
|
|
NM_001384732.1(CPLANE1):c.5376A>C (p.Glu1792Asp)
|
|
|
|
NM_001384732.1(CPLANE1):c.5396A>G (p.Tyr1799Cys)
|
|
|
|
NM_001384732.1(CPLANE1):c.5397T>G (p.Tyr1799Ter)
|
rs759881074
|
|
|
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.556T>C (p.Phe186Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.5594dup (p.Asn1865fs)
|
rs990257446
|
|
|
NM_001384732.1(CPLANE1):c.5638C>T (p.His1880Tyr)
|
|
|
|
NM_001384732.1(CPLANE1):c.5653G>T (p.Glu1885Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.5657_5658del (p.Phe1886fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer)
|
rs962476553
|
|
|
NM_001384732.1(CPLANE1):c.568G>A (p.Glu190Lys)
|
|
|
|
NM_001384732.1(CPLANE1):c.5692G>A (p.Ala1898Thr)
|
|
|
|
NM_001384732.1(CPLANE1):c.571-18T>G
|
rs1484482731
|
|
|
NM_001384732.1(CPLANE1):c.571-1G>A
|
|
|
|
NM_001384732.1(CPLANE1):c.5737+2T>C
|
|
|
|
NM_001384732.1(CPLANE1):c.5800_5801del (p.Leu1934fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.586T>C (p.Cys196Arg)
|
rs2150766539
|
|
|
NM_001384732.1(CPLANE1):c.5872dup (p.Met1958fs)
|
rs2547728684
|
|
|
NM_001384732.1(CPLANE1):c.589C>G (p.Leu197Val)
|
|
|
|
NM_001384732.1(CPLANE1):c.5900+2T>C
|
|
|
|
NM_001384732.1(CPLANE1):c.5908G>A (p.Glu1970Lys)
|
rs1391071475
|
|
|
NM_001384732.1(CPLANE1):c.5995T>A (p.Tyr1999Asn)
|
|
|
|
NM_001384732.1(CPLANE1):c.601A>T (p.Thr201Ser)
|
|
|
|
NM_001384732.1(CPLANE1):c.6028A>T (p.Ile2010Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.6062C>G (p.Pro2021Arg)
|
rs928348123
|
|
|
NM_001384732.1(CPLANE1):c.6062C>T (p.Pro2021Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.6098_6101delinsGCAT (p.Phe2033_Thr2034delinsCysMet)
|
|
|
|
NM_001384732.1(CPLANE1):c.6114del (p.Asp2039fs)
|
rs2547674026
|
|
|
NM_001384732.1(CPLANE1):c.6125A>C (p.Glu2042Ala)
|
rs766565364
|
|
|
NM_001384732.1(CPLANE1):c.6149A>G (p.Asp2050Gly)
|
|
|
|
NM_001384732.1(CPLANE1):c.6166G>T (p.Val2056Phe)
|
rs748142967
|
|
|
NM_001384732.1(CPLANE1):c.6169C>A (p.Gln2057Lys)
|
|
|
|
NM_001384732.1(CPLANE1):c.6206TAG[1] (p.Val2070del)
|
|
|
|
NM_001384732.1(CPLANE1):c.6226A>G (p.Asn2076Asp)
|
|
|
|
NM_001384732.1(CPLANE1):c.6248T>C (p.Leu2083Pro)
|
|
|
|
NM_001384732.1(CPLANE1):c.6269_6270del (p.Val2090fs)
|
rs768675259
|
|
|
NM_001384732.1(CPLANE1):c.6283A>T (p.Ser2095Cys)
|
|
|
|
NM_001384732.1(CPLANE1):c.6286C>T (p.Gln2096Ter)
|
rs2150954061
|
|
|
NM_001384732.1(CPLANE1):c.6287A>G (p.Gln2096Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.62G>A (p.Arg21His)
|
|
|
|
NM_001384732.1(CPLANE1):c.6302G>T (p.Arg2101Ile)
|
rs771457677
|
|
|
NM_001384732.1(CPLANE1):c.6314A>G (p.Asp2105Gly)
|
|
|
|
NM_001384732.1(CPLANE1):c.6337C>G (p.Leu2113Val)
|
|
|
|
NM_001384732.1(CPLANE1):c.6354dup (p.Ile2119fs)
|
rs1188561908
|
|
|
NM_001384732.1(CPLANE1):c.6359A>C (p.Lys2120Thr)
|
|
|
|
NM_001384732.1(CPLANE1):c.6361C>A (p.Pro2121Thr)
|
|
|
|
NM_001384732.1(CPLANE1):c.6398A>C (p.Lys2133Thr)
|
rs1218344038
|
|
|
NM_001384732.1(CPLANE1):c.6399G>C (p.Lys2133Asn)
|
rs2150952089
|
|
|
NM_001384732.1(CPLANE1):c.6407del (p.Pro2136fs)
|
rs367543064
|
|
|
NM_001384732.1(CPLANE1):c.6411del (p.Cys2138fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.6424A>T (p.Thr2142Ser)
|
|
|
|
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.6461A>G (p.Gln2154Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs)
|
rs747815682
|
|
|
NM_001384732.1(CPLANE1):c.6515_6522del (p.Lys2172fs)
|
rs2547580013
|
|
|
NM_001384732.1(CPLANE1):c.6519_6520del (p.Gly2174fs)
|
rs2547580119
|
|
|
NM_001384732.1(CPLANE1):c.6530C>T (p.Pro2177Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.653A>G (p.His218Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.6553A>G (p.Thr2185Ala)
|
|
|
|
NM_001384732.1(CPLANE1):c.6563A>G (p.Tyr2188Cys)
|
rs540226094
|
|
|
NM_001384732.1(CPLANE1):c.6574G>T (p.Ala2192Ser)
|
|
|
|
NM_001384732.1(CPLANE1):c.6580A>G (p.Asn2194Asp)
|
|
|
|
NM_001384732.1(CPLANE1):c.6616G>T (p.Val2206Phe)
|
|
|
|
NM_001384732.1(CPLANE1):c.6652A>G (p.Thr2218Ala)
|
|
|
|
NM_001384732.1(CPLANE1):c.6668A>T (p.Asp2223Val)
|
rs538086941
|
|
|
NM_001384732.1(CPLANE1):c.6719T>A (p.Phe2240Tyr)
|
|
|
|
NM_001384732.1(CPLANE1):c.673G>A (p.Val225Ile)
|
|
|
|
NM_001384732.1(CPLANE1):c.6799T>C (p.Phe2267Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.6823G>A (p.Ala2275Thr)
|
|
|
|
NM_001384732.1(CPLANE1):c.6825_6826delinsCC (p.Ala2276Pro)
|
rs2547570537
|
|
|
NM_001384732.1(CPLANE1):c.6952G>T (p.Asp2318Tyr)
|
|
|
|
NM_001384732.1(CPLANE1):c.6961G>A (p.Val2321Ile)
|
|
|
|
NM_001384732.1(CPLANE1):c.6968A>G (p.Gln2323Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.6982C>G (p.Pro2328Ala)
|
|
|
|
NM_001384732.1(CPLANE1):c.699T>C (p.His233=)
|
rs762115051
|
|
|
NM_001384732.1(CPLANE1):c.7019A>T (p.Lys2340Ile)
|
|
|
|
NM_001384732.1(CPLANE1):c.7020dup (p.Leu2341fs)
|
rs2150932899
|
|
|
NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs)
|
rs1779035528
|
|
|
NM_001384732.1(CPLANE1):c.7075C>A (p.Leu2359Ile)
|
|
|
|
NM_001384732.1(CPLANE1):c.7095A>G (p.Pro2365=)
|
rs886060577
|
|
|
NM_001384732.1(CPLANE1):c.7109A>C (p.Asn2370Thr)
|
|
|
|
NM_001384732.1(CPLANE1):c.7129A>G (p.Arg2377Gly)
|
|
|
|
NM_001384732.1(CPLANE1):c.7177G>T (p.Glu2393Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.7180A>G (p.Arg2394Gly)
|
|
|
|
NM_001384732.1(CPLANE1):c.7190del (p.Pro2397fs)
|
rs863225156
|
|
|
NM_001384732.1(CPLANE1):c.7222C>G (p.Pro2408Ala)
|
rs769392264
|
|
|
NM_001384732.1(CPLANE1):c.7232G>A (p.Arg2411Lys)
|
|
|
|
NM_001384732.1(CPLANE1):c.7243dup (p.Thr2415fs)
|
rs758322225
|
|
|
NM_001384732.1(CPLANE1):c.7286G>A (p.Ser2429Asn)
|
|
|
|
NM_001384732.1(CPLANE1):c.729T>A (p.Ser243Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.7349A>G (p.Lys2450Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.7378C>T (p.Gln2460Ter)
|
rs1778446608
|
|
|
NM_001384732.1(CPLANE1):c.7402C>T (p.Gln2468Ter)
|
rs2150870227
|
|
|
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.7485G>T (p.Glu2495Asp)
|
rs2547499004
|
|
|
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.7534-4_7534-3del
|
rs1381389715
|
|
|
NM_001384732.1(CPLANE1):c.7553G>T (p.Gly2518Val)
|
|
|
|
NM_001384732.1(CPLANE1):c.758C>T (p.Ser253Leu)
|
rs370977871
|
|
|
NM_001384732.1(CPLANE1):c.7613C>A (p.Ser2538Ter)
|
|
|
|
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.7750C>A (p.Leu2584Ile)
|
|
|
|
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter)
|
rs863225159
|
|
|
NM_001384732.1(CPLANE1):c.7787C>T (p.Ser2596Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.7812+4del
|
|
|
|
NM_001384732.1(CPLANE1):c.7887G>T (p.Glu2629Asp)
|
|
|
|
NM_001384732.1(CPLANE1):c.7888C>T (p.Pro2630Ser)
|
|
|
|
NM_001384732.1(CPLANE1):c.7919G>A (p.Ser2640Asn)
|
rs1775554892
|
|
|
NM_001384732.1(CPLANE1):c.7972G>A (p.Val2658Ile)
|
rs988332114
|
|
|
NM_001384732.1(CPLANE1):c.7978A>G (p.Asn2660Asp)
|
rs756411183
|
|
|
NM_001384732.1(CPLANE1):c.7984G>C (p.Val2662Leu)
|
rs772274656
|
|
|
NM_001384732.1(CPLANE1):c.8011+12del
|
rs774770884
|
|
|
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)
|
rs730882217
|
|
|
NM_001384732.1(CPLANE1):c.8197C>G (p.Arg2733Gly)
|
|
|
|
NM_001384732.1(CPLANE1):c.8198G>A (p.Arg2733Gln)
|
|
|
|
NM_001384732.1(CPLANE1):c.81G>A (p.Lys27=)
|
rs1264949337
|
|
|
NM_001384732.1(CPLANE1):c.8205A>G (p.Gln2735=)
|
|
|
|
NM_001384732.1(CPLANE1):c.8272C>G (p.Leu2758Val)
|
|
|
|
NM_001384732.1(CPLANE1):c.82G>T (p.Glu28Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe)
|
rs1561422940
|
|
|
NM_001384732.1(CPLANE1):c.8329C>T (p.Gln2777Ter)
|
rs863225152
|
|
|
NM_001384732.1(CPLANE1):c.8332G>A (p.Asp2778Asn)
|
|
|
|
NM_001384732.1(CPLANE1):c.8338C>T (p.Pro2780Ser)
|
|
|
|
NM_001384732.1(CPLANE1):c.834+1G>A
|
rs1581014582
|
|
|
NM_001384732.1(CPLANE1):c.8345del (p.Pro2782fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.8353C>G (p.Leu2785Val)
|
rs770735282
|
|
|
NM_001384732.1(CPLANE1):c.8373+3A>G
|
rs780519767
|
|
|
NM_001384732.1(CPLANE1):c.8374-13G>T
|
rs771664716
|
|
|
NM_001384732.1(CPLANE1):c.8401T>C (p.Ser2801Pro)
|
|
|
|
NM_001384732.1(CPLANE1):c.8413G>A (p.Glu2805Lys)
|
|
|
|
NM_001384732.1(CPLANE1):c.8425dup (p.Thr2809fs)
|
rs775263897
|
|
|
NM_001384732.1(CPLANE1):c.8433_8448dup (p.Ile2817delinsPheLysAsnHisTer)
|
|
|
|
NM_001384732.1(CPLANE1):c.8441C>A (p.Thr2814Asn)
|
rs752852852
|
|
|
NM_001384732.1(CPLANE1):c.8462-6G>C
|
rs1029215971
|
|
|
NM_001384732.1(CPLANE1):c.852T>G (p.Phe284Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.8532A>C (p.Ser2844=)
|
|
|
|
NM_001384732.1(CPLANE1):c.8539G>C (p.Glu2847Gln)
|
rs886060574
|
|
|
NM_001384732.1(CPLANE1):c.8542A>G (p.Asn2848Asp)
|
|
|
|
NM_001384732.1(CPLANE1):c.8575A>C (p.Thr2859Pro)
|
|
|
|
NM_001384732.1(CPLANE1):c.8585C>T (p.Ser2862Leu)
|
rs1477186639
|
|
|
NM_001384732.1(CPLANE1):c.8614C>A (p.Gln2872Lys)
|
|
|
|
NM_001384732.1(CPLANE1):c.8617A>C (p.Asn2873His)
|
|
|
|
NM_001384732.1(CPLANE1):c.8632+1G>A
|
rs2547067845
|
|
|
NM_001384732.1(CPLANE1):c.8633-19A>G
|
|
|
|
NM_001384732.1(CPLANE1):c.8633-1G>A
|
|
|
|
NM_001384732.1(CPLANE1):c.8633-4_8633-3del
|
|
|
|
NM_001384732.1(CPLANE1):c.8651A>G (p.Glu2884Gly)
|
|
|
|
NM_001384732.1(CPLANE1):c.8655G>A (p.Leu2885=)
|
|
|
|
NM_001384732.1(CPLANE1):c.8663+13A>C
|
rs1768906064
|
|
|
NM_001384732.1(CPLANE1):c.8663+1G>T
|
rs1580084520
|
|
|
NM_001384732.1(CPLANE1):c.8664-19A>G
|
rs2150360134
|
|
|
NM_001384732.1(CPLANE1):c.8670A>G (p.Ser2890=)
|
rs886060573
|
|
|
NM_001384732.1(CPLANE1):c.8687T>A (p.Met2896Lys)
|
|
|
|
NM_001384732.1(CPLANE1):c.868T>A (p.Phe290Ile)
|
|
|
|
NM_001384732.1(CPLANE1):c.872T>C (p.Val291Ala)
|
|
|
|
NM_001384732.1(CPLANE1):c.8793-5C>A
|
|
|
|
NM_001384732.1(CPLANE1):c.8841_8842del (p.Glu2949fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.8878G>T (p.Glu2960Ter)
|
rs863225153
|
|
|
NM_001384732.1(CPLANE1):c.8879A>G (p.Glu2960Gly)
|
|
|
|
NM_001384732.1(CPLANE1):c.8887del (p.Ala2963fs)
|
rs770758833
|
|
|
NM_001384732.1(CPLANE1):c.8921G>A (p.Gly2974Glu)
|
rs776510943
|
|
|
NM_001384732.1(CPLANE1):c.8942G>A (p.Cys2981Tyr)
|
|
|
|
NM_001384732.1(CPLANE1):c.8947A>T (p.Arg2983Ter)
|
rs1345413118
|
|
|
NM_001384732.1(CPLANE1):c.8980del (p.Glu2993_Ile2994insTer)
|
rs2546659372
|
|
|
NM_001384732.1(CPLANE1):c.9017+1G>T
|
rs863225154
|
|
|
NM_001384732.1(CPLANE1):c.907_908del (p.Lys303fs)
|
rs1187142382
|
|
|
NM_001384732.1(CPLANE1):c.9106A>G (p.Thr3036Ala)
|
|
|
|
NM_001384732.1(CPLANE1):c.9148dup (p.Gln3050fs)
|
rs1579888631
|
|
|
NM_001384732.1(CPLANE1):c.9157del (p.Ser3053fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.9180A>G (p.Pro3060=)
|
rs1762653550
|
|
|
NM_001384732.1(CPLANE1):c.9185G>A (p.Gly3062Glu)
|
|
|
|
NM_001384732.1(CPLANE1):c.9190A>G (p.Asn3064Asp)
|
|
|
|
NM_001384732.1(CPLANE1):c.923C>T (p.Pro308Leu)
|
|
|
|
NM_001384732.1(CPLANE1):c.9299_9307dup (p.Pro3102_His3103insProTrpPro)
|
|
|
|
NM_001384732.1(CPLANE1):c.9302G>A (p.Trp3101Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.9304C>T (p.Pro3102Ser)
|
rs1762247795
|
|
|
NM_001384732.1(CPLANE1):c.9305C>G (p.Pro3102Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.9313A>G (p.Thr3105Ala)
|
|
|
|
NM_001384732.1(CPLANE1):c.9320del (p.Thr3107fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.9350C>G (p.Ala3117Gly)
|
|
|
|
NM_001384732.1(CPLANE1):c.938+10C>G
|
rs1308998312
|
|
|
NM_001384732.1(CPLANE1):c.9414G>A (p.Pro3138=)
|
rs377707922
|
|
|
NM_001384732.1(CPLANE1):c.9441dup (p.His3148fs)
|
rs1579740974
|
|
|
NM_001384732.1(CPLANE1):c.9442C>T (p.His3148Tyr)
|
rs760642862
|
|
|
NM_001384732.1(CPLANE1):c.94G>T (p.Val32Phe)
|
|
|
|
NM_001384732.1(CPLANE1):c.9500_9501del (p.Glu3167fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.9526A>G (p.Ile3176Val)
|
|
|
|
NM_001384732.1(CPLANE1):c.9554A>C (p.His3185Pro)
|
|
|
|
NM_001384732.1(CPLANE1):c.9580-9A>C
|
|
|
|
NM_001384732.1(CPLANE1):c.9610G>C (p.Glu3204Gln)
|
|
|
|
NM_001384732.1(CPLANE1):c.9634G>A (p.Val3212Met)
|
|
|
|
NM_001384732.1(CPLANE1):c.9641G>A (p.Ser3214Asn)
|
|
|
|
NM_001384732.1(CPLANE1):c.9710G>A (p.Ser3237Asn)
|
|
|
|
NM_001384732.1(CPLANE1):c.9729G>A (p.Leu3243=)
|
rs1339135347
|
|
|
NM_001384732.1(CPLANE1):c.9730T>C (p.Ser3244Pro)
|
rs368852403
|
|
|
NM_001384732.1(CPLANE1):c.992G>A (p.Cys331Tyr)
|
|
|
|
NM_001384732.1(CPLANE1):c.994_996del (p.Met332del)
|
rs1797611349
|
|
|
NM_001384732.1(CPLANE1):c.[2854_2855insCT;3599C>T]
|
|
|
|
NM_002601.4(PDE6D):c.117T>A (p.Ser39=)
|
rs2106261946
|
|
|
NM_002601.4(PDE6D):c.126T>G (p.Gly42=)
|
rs2106261935
|
|
|
NM_002601.4(PDE6D):c.139+19T>C
|
rs1236073055
|
|
|
NM_002601.4(PDE6D):c.140-15T>C
|
|
|
|
NM_002601.4(PDE6D):c.140-19T>C
|
rs766425103
|
|
|
NM_002601.4(PDE6D):c.140-1G>A
|
rs587777156
|
|
|
NM_002601.4(PDE6D):c.143G>A (p.Arg48His)
|
|
|
|
NM_002601.4(PDE6D):c.15C>T (p.Asp5=)
|
rs2106294236
|
|
|
NM_002601.4(PDE6D):c.183A>G (p.Arg61=)
|
rs2106261155
|
|
|
NM_002601.4(PDE6D):c.224G>A (p.Arg75His)
|
rs367809264
|
|
|
NM_002601.4(PDE6D):c.225C>T (p.Arg75=)
|
rs2469688194
|
|
|
NM_002601.4(PDE6D):c.227T>C (p.Leu76Pro)
|
rs2048717432
|
|
|
NM_002601.4(PDE6D):c.257del (p.Cys86fs)
|
rs2048717087
|
|
|
NM_002601.4(PDE6D):c.266-3C>T
|
rs2106260539
|
|
|
NM_002601.4(PDE6D):c.304A>C (p.Thr102Pro)
|
rs2106260506
|
|
|
NM_002601.4(PDE6D):c.30G>C (p.Glu10Asp)
|
rs775389135
|
|
|
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.342del (p.Glu114fs)
|
rs2469686850
|
|
|
NM_002601.4(PDE6D):c.345C>T (p.Ser115=)
|
rs2048708440
|
|
|
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs)
|
rs1559307932
|
|
|
NM_002601.4(PDE6D):c.371+13G>T
|
|
|
|
NM_002601.4(PDE6D):c.372-7C>A
|
rs2048664865
|
|
|
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)
|
rs1192555580
|
|
|
NM_002601.4(PDE6D):c.46A>T (p.Lys16Ter)
|
rs2106294164
|
|
|
NM_002601.4(PDE6D):c.50+7G>T
|
rs2106294152
|
|
|
NM_002601.4(PDE6D):c.51-12A>G
|
rs2469689825
|
|
|
NM_002601.4(PDE6D):c.51-19del
|
rs775989192
|
|
|
NM_002601.4(PDE6D):c.51A>C (p.Leu17=)
|
rs1328575509
|
|
|
NM_002601.4(PDE6D):c.66del (p.Arg23fs)
|
rs2106261987
|
|
|
NM_002601.4(PDE6D):c.67C>T (p.Arg23Trp)
|
rs570163390
|
|
|
NM_002601.4(PDE6D):c.6A>C (p.Ser2=)
|
|
|
|
NM_003611.3(OFD1):c.*20_*22del
|
|
|
|
NM_003611.3(OFD1):c.1055+1G>T
|
|
|
|
NM_003611.3(OFD1):c.1106T>C (p.Ile369Thr)
|
|
|
|
NM_003611.3(OFD1):c.111+6G>A
|
rs2518743881
|
|
|
NM_003611.3(OFD1):c.112-4C>G
|
rs1006144968
|
|
|
NM_003611.3(OFD1):c.1130-19T>A
|
|
|
|
NM_003611.3(OFD1):c.1179GGA[1] (p.Glu395del)
|
|
|
|
NM_003611.3(OFD1):c.1193A>T (p.Gln398Leu)
|
|
|
|
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs)
|
rs312262868
|
|
|
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)
|
rs312262810
|
|
|
NM_003611.3(OFD1):c.1235C>G (p.Ser412Cys)
|
|
|
|
NM_003611.3(OFD1):c.1262C>G (p.Thr421Arg)
|
rs752446194
|
|
|
NM_003611.3(OFD1):c.1330A>C (p.Lys444Gln)
|
|
|
|
NM_003611.3(OFD1):c.136C>G (p.His46Asp)
|
|
|
|
NM_003611.3(OFD1):c.1371A>G (p.Gln457=)
|
|
|
|
NM_003611.3(OFD1):c.1395C>G (p.Asn465Lys)
|
rs1311727007
|
|
|
NM_003611.3(OFD1):c.1410C>G (p.Asn470Lys)
|
|
|
|
NM_003611.3(OFD1):c.1411+1G>A
|
rs2147027077
|
|
|
NM_003611.3(OFD1):c.1412-11del
|
rs36052228
|
|
|
NM_003611.3(OFD1):c.1445T>C (p.Phe482Ser)
|
|
|
|
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr)
|
rs2147032761
|
|
|
NM_003611.3(OFD1):c.1526A>G (p.Lys509Arg)
|
|
|
|
NM_003611.3(OFD1):c.1559A>G (p.Gln520Arg)
|
|
|
|
NM_003611.3(OFD1):c.1586A>G (p.Lys529Arg)
|
|
|
|
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly)
|
rs2047794483
|
|
|
NM_003611.3(OFD1):c.1597_1598del (p.Lys533fs)
|
|
|
|
NM_003611.3(OFD1):c.1604dup (p.Leu535fs)
|
|
|
|
NM_003611.3(OFD1):c.1616T>C (p.Val539Ala)
|
|
|
|
NM_003611.3(OFD1):c.1697T>C (p.Ile566Thr)
|
|
|
|
NM_003611.3(OFD1):c.1743C>G (p.Cys581Trp)
|
rs983722470
|
|
|
NM_003611.3(OFD1):c.1804C>T (p.Arg602Cys)
|
|
|
|
NM_003611.3(OFD1):c.1819A>G (p.Arg607Gly)
|
|
|
|
NM_003611.3(OFD1):c.184A>G (p.Ile62Val)
|
|
|
|
NM_003611.3(OFD1):c.1895A>T (p.Lys632Met)
|
|
|
|
NM_003611.3(OFD1):c.1917G>T (p.Gln639His)
|
|
|
|
NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)
|
rs2518939102
|
|
|
NM_003611.3(OFD1):c.1985_1987del (p.Lys662del)
|
|
|
|
NM_003611.3(OFD1):c.1A>G (p.Met1Val)
|
|
|
|
NM_003611.3(OFD1):c.2008CCA[1] (p.Pro671del)
|
rs2518939342
|
|
|
NM_003611.3(OFD1):c.2047A>C (p.Thr683Pro)
|
|
|
|
NM_003611.3(OFD1):c.2069A>C (p.His690Pro)
|
|
|
|
NM_003611.3(OFD1):c.2098G>C (p.Glu700Gln)
|
|
|
|
NM_003611.3(OFD1):c.2161G>A (p.Ala721Thr)
|
|
|
|
NM_003611.3(OFD1):c.216C>A (p.Gly72=)
|
rs369907022
|
|
|
NM_003611.3(OFD1):c.216C>T (p.Gly72=)
|
rs369907022
|
|
|
NM_003611.3(OFD1):c.217G>A (p.Ala73Thr)
|
|
|
|
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
|
rs2047911950
|
|
|
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)
|
rs753498008
|
|
|
NM_003611.3(OFD1):c.2387+1G>A
|
rs2047914412
|
|
|
NM_003611.3(OFD1):c.2413C>A (p.Gln805Lys)
|
|
|
|
NM_003611.3(OFD1):c.2442C>A (p.Asp814Glu)
|
|
|
|
NM_003611.3(OFD1):c.2450C>T (p.Ala817Val)
|
rs142703521
|
|
|
NM_003611.3(OFD1):c.2484dup (p.Glu829Ter)
|
rs2147060430
|
|
|
NM_003611.3(OFD1):c.2488+14_2488+19del
|
rs781190242
|
|
|
NM_003611.3(OFD1):c.2600-3T>C
|
|
|
|
NM_003611.3(OFD1):c.2627A>G (p.Gln876Arg)
|
rs2518990412
|
|
|
NM_003611.3(OFD1):c.2638_2642delinsAAAAT (p.Glu880_Lys881delinsLysIle)
|
|
|
|
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter)
|
rs863225212
|
|
|
NM_003611.3(OFD1):c.26C>T (p.Thr9Ile)
|
rs1555900190
|
|
|
NM_003611.3(OFD1):c.2757+5T>C
|
|
|
|
NM_003611.3(OFD1):c.2767del (p.Glu923fs)
|
rs312262894
|
|
|
NM_003611.3(OFD1):c.277G>T (p.Val93Phe)
|
rs863225211
|
|
|
NM_003611.3(OFD1):c.281T>C (p.Phe94Ser)
|
|
|
|
NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs)
|
rs312262895
|
|
|
NM_003611.3(OFD1):c.2944G>A (p.Val982Ile)
|
rs2519003782
|
|
|
NM_003611.3(OFD1):c.2951_2952delinsGC (p.Glu984Gly)
|
|
|
|
NM_003611.3(OFD1):c.2996+16AC[2]
|
rs761270089
|
|
|
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp)
|
rs1235702491
|
|
|
NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu)
|
rs758646234
|
|
|
NM_003611.3(OFD1):c.312+2T>C
|
|
|
|
NM_003611.3(OFD1):c.382G>A (p.Val128Ile)
|
rs766600036
|
|
|
NM_003611.3(OFD1):c.400_403del (p.Glu134fs)
|
rs312262830
|
|
|
NM_003611.3(OFD1):c.450TCA[1] (p.His151del)
|
rs1569117650
|
|
|
NM_003611.3(OFD1):c.512C>A (p.Ser171Tyr)
|
rs746789801
|
|
|
NM_003611.3(OFD1):c.517+13_517+14delinsGC
|
rs2146959704
|
|
|
NM_003611.3(OFD1):c.538GAT[1] (p.Asp181del)
|
rs1131691889
|
|
|
NM_003611.3(OFD1):c.599T>C (p.Leu200Pro)
|
rs2047299277
|
|
|
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del)
|
rs1602826132
|
|
|
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del)
|
rs398122866
|
|
|
NM_003611.3(OFD1):c.706A>C (p.Lys236Gln)
|
|
|
|
NM_003611.3(OFD1):c.710dup (p.Tyr238fs)
|
rs312262845
|
|
|
NM_003611.3(OFD1):c.758G>A (p.Cys253Tyr)
|
|
|
|
NM_003611.3(OFD1):c.815A>G (p.His272Arg)
|
rs781277679
|
|
|
NM_003611.3(OFD1):c.851C>T (p.Ala284Val)
|
|
|
|
NM_003611.3(OFD1):c.856A>T (p.Arg286Trp)
|
|
|
|
NM_003611.3(OFD1):c.882T>A (p.Asp294Glu)
|
rs2518857555
|
|
|
NM_003611.3(OFD1):c.919G>C (p.Val307Leu)
|
|
|
|
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly)
|
rs764424025
|
|
|
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter)
|
rs1555904005
|
|
|
NM_015631.6(TCTN3):c.1008C>A (p.Ile336=)
|
rs747888353
|
|
|
NM_015631.6(TCTN3):c.1008C>G (p.Ile336Met)
|
rs747888353
|
|
|
NM_015631.6(TCTN3):c.1008C>T (p.Ile336=)
|
rs747888353
|
|
|
NM_015631.6(TCTN3):c.1013A>G (p.Lys338Arg)
|
rs1206102625
|
|
|
NM_015631.6(TCTN3):c.1027T>C (p.Leu343=)
|
rs2097946417
|
|
|
NM_015631.6(TCTN3):c.1059C>A (p.Gly353=)
|
rs750698768
|
|
|
NM_015631.6(TCTN3):c.1065C>T (p.Ser355=)
|
rs2139742208
|
|
|
NM_015631.6(TCTN3):c.1076A>G (p.His359Arg)
|
rs982781639
|
|
|
NM_015631.6(TCTN3):c.1077C>T (p.His359=)
|
|
|
|
NM_015631.6(TCTN3):c.1079T>G (p.Phe360Cys)
|
rs761227554
|
|
|
NM_015631.6(TCTN3):c.1096-12del
|
rs2492745293
|
|
|
NM_015631.6(TCTN3):c.1096-2A>G
|
|
|
|
NM_015631.6(TCTN3):c.1096-5T>G
|
rs2492745249
|
|
|
NM_015631.6(TCTN3):c.1103A>C (p.Gln368Pro)
|
rs200742071
|
|
|
NM_015631.6(TCTN3):c.1104A>G (p.Gln368=)
|
|
|
|
NM_015631.6(TCTN3):c.1133C>A (p.Pro378His)
|
rs2492744980
|
|
|
NM_015631.6(TCTN3):c.1138A>G (p.Ser380Gly)
|
rs745968146
|
|
|
NM_015631.6(TCTN3):c.1142G>T (p.Gly381Val)
|
|
|
|
NM_015631.6(TCTN3):c.114G>T (p.Leu38=)
|
rs1027956965
|
|
|
NM_015631.6(TCTN3):c.1160T>G (p.Val387Gly)
|
rs756610295
|
|
|
NM_015631.6(TCTN3):c.1163G>C (p.Gly388Ala)
|
rs546369579
|
|
|
NM_015631.6(TCTN3):c.1164G>A (p.Gly388=)
|
rs759892719
|
|
|
NM_015631.6(TCTN3):c.1164dup (p.Lys389fs)
|
rs763557318
|
|
|
NM_015631.6(TCTN3):c.1176G>C (p.Leu392Phe)
|
rs931265396
|
|
|
NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr)
|
rs1432135827
|
|
|
NM_015631.6(TCTN3):c.1189G>A (p.Asp397Asn)
|
rs1239502080
|
|
|
NM_015631.6(TCTN3):c.118del (p.Arg40fs)
|
|
|
|
NM_015631.6(TCTN3):c.1192A>G (p.Ile398Val)
|
rs776333324
|
|
|
NM_015631.6(TCTN3):c.1203+18G>A
|
rs1353637039
|
|
|
NM_015631.6(TCTN3):c.1203+5C>T
|
rs2139739478
|
|
|
NM_015631.6(TCTN3):c.1204-14C>T
|
rs1412476617
|
|
|
NM_015631.6(TCTN3):c.1206dup (p.Thr403fs)
|
rs2492743120
|
|
|
NM_015631.6(TCTN3):c.120A>G (p.Arg40=)
|
|
|
|
NM_015631.6(TCTN3):c.1210C>T (p.Leu404Phe)
|
rs1008019391
|
|
|
NM_015631.6(TCTN3):c.1212C>T (p.Leu404=)
|
rs2097944814
|
|
|
NM_015631.6(TCTN3):c.1213T>A (p.Leu405Ile)
|
rs2492743061
|
|
|
NM_015631.6(TCTN3):c.1226del (p.Gly409fs)
|
rs747710152
|
|
|
NM_015631.6(TCTN3):c.1232G>C (p.Gly411Ala)
|
rs140405704
|
|
|
NM_015631.6(TCTN3):c.1238G>A (p.Cys413Tyr)
|
rs2139738439
|
|
|
NM_015631.6(TCTN3):c.1253A>G (p.His418Arg)
|
rs780440917
|
|
|
NM_015631.6(TCTN3):c.1259T>G (p.Val420Gly)
|
rs2139738378
|
|
|
NM_015631.6(TCTN3):c.1296C>T (p.Leu432=)
|
rs368389310
|
|
|
NM_015631.6(TCTN3):c.1298+8T>C
|
rs2097944678
|
|
|
NM_015631.6(TCTN3):c.1298+8T>G
|
|
|
|
NM_015631.6(TCTN3):c.1298+9T>A
|
|
|
|
NM_015631.6(TCTN3):c.1298G>C (p.Arg433Thr)
|
rs2139738242
|
|
|
NM_015631.6(TCTN3):c.1299-14G>A
|
|
|
|
NM_015631.6(TCTN3):c.1299-15G>A
|
rs1589614065
|
|
|
NM_015631.6(TCTN3):c.1299-17A>G
|
rs2492740671
|
|
|
NM_015631.6(TCTN3):c.1299-18C>T
|
rs2097944406
|
|
|
NM_015631.6(TCTN3):c.1311A>C (p.Ala437=)
|
rs2139737404
|
|
|
NM_015631.6(TCTN3):c.132C>T (p.Gly44=)
|
rs1313346150
|
|
|
NM_015631.6(TCTN3):c.1347T>A (p.Thr449=)
|
rs772468757
|
|
|
NM_015631.6(TCTN3):c.1348C>T (p.Leu450Phe)
|
rs2139737228
|
|
|
NM_015631.6(TCTN3):c.1348_1349del (p.Leu450fs)
|
rs768525869
|
|
|
NM_015631.6(TCTN3):c.1353T>C (p.His451=)
|
rs2492740185
|
|
|
NM_015631.6(TCTN3):c.1359G>A (p.Arg453=)
|
|
|
|
NM_015631.6(TCTN3):c.1361C>G (p.Pro454Arg)
|
rs1462507553
|
|
|
NM_015631.6(TCTN3):c.1365A>G (p.Arg455=)
|
rs2492740102
|
|
|
NM_015631.6(TCTN3):c.1367_1370dup (p.Glu457fs)
|
rs2492740075
|
|
|
NM_015631.6(TCTN3):c.137C>T (p.Thr46Ile)
|
rs2492795256
|
|
|
NM_015631.6(TCTN3):c.138C>T (p.Thr46=)
|
rs887435654
|
|
|
NM_015631.6(TCTN3):c.1402G>C (p.Ala468Pro)
|
rs1218187792
|
|
|
NM_015631.6(TCTN3):c.1415G>A (p.Gly472Glu)
|
rs2492739853
|
|
|
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.1423_1429del (p.Arg475fs)
|
rs1589613893
|
|
|
NM_015631.6(TCTN3):c.1440C>T (p.His480=)
|
rs753883610
|
|
|
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.1474_1484del (p.Cys492fs)
|
rs1454064691
|
|
|
NM_015631.6(TCTN3):c.1476T>A (p.Cys492Ter)
|
|
|
|
NM_015631.6(TCTN3):c.1490C>G (p.Ser497Cys)
|
rs139612049
|
|
|
NM_015631.6(TCTN3):c.1492C>T (p.Leu498=)
|
|
|
|
NM_015631.6(TCTN3):c.1497G>A (p.Glu499=)
|
rs2139731591
|
|
|
NM_015631.6(TCTN3):c.1499T>C (p.Ile500Thr)
|
rs1327433488
|
|
|
NM_015631.6(TCTN3):c.1499T>G (p.Ile500Ser)
|
rs1327433488
|
|
|
NM_015631.6(TCTN3):c.1503G>A (p.Gln501=)
|
rs751864135
|
|
|
NM_015631.6(TCTN3):c.1529_1532dup (p.Asn512fs)
|
rs2139731384
|
|
|
NM_015631.6(TCTN3):c.1548T>C (p.His516=)
|
rs2097941875
|
|
|
NM_015631.6(TCTN3):c.1551A>G (p.Val517=)
|
|
|
|
NM_015631.6(TCTN3):c.1562G>A (p.Arg521Gln)
|
rs765803620
|
|
|
NM_015631.6(TCTN3):c.1562G>C (p.Arg521Pro)
|
rs765803620
|
|
|
NM_015631.6(TCTN3):c.1564T>C (p.Phe522Leu)
|
rs2492731203
|
|
|
NM_015631.6(TCTN3):c.1569A>C (p.Leu523=)
|
rs201367852
|
|
|
NM_015631.6(TCTN3):c.1575G>T (p.Gln525His)
|
rs768137956
|
|
|
NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg)
|
rs1474769675
|
|
|
NM_015631.6(TCTN3):c.1583C>A (p.Ser528Tyr)
|
rs2492731065
|
|
|
NM_015631.6(TCTN3):c.1589A>G (p.Gln530Arg)
|
rs1165507491
|
|
|
NM_015631.6(TCTN3):c.1590+14C>T
|
rs2097941757
|
|
|
NM_015631.6(TCTN3):c.1590+15A>T
|
rs781078051
|
|
|
NM_015631.6(TCTN3):c.1591-7C>G
|
rs1172229146
|
|
|
NM_015631.6(TCTN3):c.1591G>T (p.Asp531Tyr)
|
rs143735885
|
|
|
NM_015631.6(TCTN3):c.159G>T (p.Ala53=)
|
rs540555381
|
|
|
NM_015631.6(TCTN3):c.1602A>G (p.Gln534=)
|
rs2097924028
|
|
|
NM_015631.6(TCTN3):c.162T>A (p.Thr54=)
|
rs1410663654
|
|
|
NM_015631.6(TCTN3):c.162T>C (p.Thr54=)
|
rs1410663654
|
|
|
NM_015631.6(TCTN3):c.1647del (p.Thr550fs)
|
rs2139691832
|
|
|
NM_015631.6(TCTN3):c.1650C>T (p.Thr550=)
|
rs2097923995
|
|
|
NM_015631.6(TCTN3):c.1660C>T (p.Gln554Ter)
|
rs2139691743
|
|
|
NM_015631.6(TCTN3):c.1680C>G (p.Pro560=)
|
rs761227686
|
|
|
NM_015631.6(TCTN3):c.1707CTT[1] (p.Phe571del)
|
rs2492672765
|
|
|
NM_015631.6(TCTN3):c.1716C>T (p.Pro572=)
|
rs2097923946
|
|
|
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.1758C>T (p.Cys586=)
|
rs2097923917
|
|
|
NM_015631.6(TCTN3):c.1762G>A (p.Val588Ile)
|
rs1416641435
|
|
|
NM_015631.6(TCTN3):c.1766C>G (p.Ser589Cys)
|
rs927310199
|
|
|
NM_015631.6(TCTN3):c.1774C>T (p.Leu592Phe)
|
rs375708075
|
|
|
NM_015631.6(TCTN3):c.1779C>A (p.Ile593=)
|
rs2492672109
|
|
|
NM_015631.6(TCTN3):c.1809C>T (p.Asn603=)
|
rs2492671797
|
|
|
NM_015631.6(TCTN3):c.1816A>G (p.Thr606Ala)
|
rs2492671725
|
|
|
NM_015631.6(TCTN3):c.1819_1820del (p.Met607fs)
|
rs1371026167
|
|
|
NM_015631.6(TCTN3):c.182dup (p.Gly62fs)
|
rs763132585
|
|
|
NM_015631.6(TCTN3):c.18C>G (p.Leu6=)
|
rs879694012
|
|
|
NM_015631.6(TCTN3):c.191C>T (p.Pro64Leu)
|
rs2492794421
|
|
|
NM_015631.6(TCTN3):c.194C>T (p.Thr65Ile)
|
rs2097955954
|
|
|
NM_015631.6(TCTN3):c.198G>A (p.Val66=)
|
rs1237516460
|
|
|
NM_015631.6(TCTN3):c.1A>G (p.Met1Val)
|
rs1046385111
|
|
|
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu)
|
rs138495428
|
|
|
NM_015631.6(TCTN3):c.219C>T (p.Pro73=)
|
rs752528883
|
|
|
NM_015631.6(TCTN3):c.21G>C (p.Ala7=)
|
rs61737888
|
|
|
NM_015631.6(TCTN3):c.228T>G (p.Pro76=)
|
rs1468519329
|
|
|
NM_015631.6(TCTN3):c.245A>T (p.Asp82Val)
|
rs2139768503
|
|
|
NM_015631.6(TCTN3):c.256+11A>G
|
rs2492793416
|
|
|
NM_015631.6(TCTN3):c.256+2_256+7del
|
rs1224169161
|
|
|
NM_015631.6(TCTN3):c.256+7G>T
|
|
|
|
NM_015631.6(TCTN3):c.256G>T (p.Val86Phe)
|
rs1479797302
|
|
|
NM_015631.6(TCTN3):c.257-11T>G
|
rs1201207763
|
|
|
NM_015631.6(TCTN3):c.257-13C>T
|
rs768606622
|
|
|
NM_015631.6(TCTN3):c.257-22_257-19del
|
rs1426583967
|
|
|
NM_015631.6(TCTN3):c.264G>T (p.Pro88=)
|
rs2097955627
|
|
|
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer)
|
rs553175533
|
|
|
NM_015631.6(TCTN3):c.27G>A (p.Leu9=)
|
rs973353630
|
|
|
NM_015631.6(TCTN3):c.27G>T (p.Leu9=)
|
rs973353630
|
|
|
NM_015631.6(TCTN3):c.28C>T (p.Gln10Ter)
|
rs1262446492
|
|
|
NM_015631.6(TCTN3):c.2T>A (p.Met1Lys)
|
rs373479905
|
|
|
NM_015631.6(TCTN3):c.2T>C (p.Met1Thr)
|
rs373479905
|
|
|
NM_015631.6(TCTN3):c.301A>T (p.Ile101Leu)
|
rs2139767336
|
|
|
NM_015631.6(TCTN3):c.315C>T (p.Cys105=)
|
rs2492790791
|
|
|
NM_015631.6(TCTN3):c.321G>A (p.Arg107=)
|
rs2492790734
|
|
|
NM_015631.6(TCTN3):c.338_341del (p.His113fs)
|
rs761798713
|
|
|
NM_015631.6(TCTN3):c.348A>C (p.Thr116=)
|
|
|
|
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)
|
rs1476594866
|
|
|
NM_015631.6(TCTN3):c.368C>G (p.Pro123Arg)
|
rs1005806916
|
|
|
NM_015631.6(TCTN3):c.371_372del (p.Gly124fs)
|
rs2492790282
|
|
|
NM_015631.6(TCTN3):c.380+16C>T
|
rs1012801289
|
|
|
NM_015631.6(TCTN3):c.380+17A>G
|
|
|
|
NM_015631.6(TCTN3):c.381-18C>T
|
rs1356931228
|
|
|
NM_015631.6(TCTN3):c.390C>G (p.Ser130Arg)
|
rs533262975
|
|
|
NM_015631.6(TCTN3):c.393G>A (p.Trp131Ter)
|
|
|
|
NM_015631.6(TCTN3):c.393G>C (p.Trp131Cys)
|
rs1034323869
|
|
|
NM_015631.6(TCTN3):c.402A>T (p.Val134=)
|
|
|
|
NM_015631.6(TCTN3):c.40C>T (p.Leu14=)
|
|
|
|
NM_015631.6(TCTN3):c.412_413del (p.Val138fs)
|
rs2097955017
|
|
|
NM_015631.6(TCTN3):c.420C>T (p.Phe140=)
|
|
|
|
NM_015631.6(TCTN3):c.434C>T (p.Pro145Leu)
|
rs1489817091
|
|
|
NM_015631.6(TCTN3):c.435G>A (p.Pro145=)
|
rs769335959
|
|
|
NM_015631.6(TCTN3):c.443C>G (p.Ser148Ter)
|
|
|
|
NM_015631.6(TCTN3):c.444A>G (p.Ser148=)
|
rs780870375
|
|
|
NM_015631.6(TCTN3):c.455T>C (p.Met152Thr)
|
rs2139764940
|
|
|
NM_015631.6(TCTN3):c.45G>T (p.Val15=)
|
|
|
|
NM_015631.6(TCTN3):c.476A>G (p.Gln159Arg)
|
rs2492786012
|
|
|
NM_015631.6(TCTN3):c.500-19del
|
rs2492765095
|
|
|
NM_015631.6(TCTN3):c.501A>G (p.Ser167=)
|
|
|
|
NM_015631.6(TCTN3):c.510C>G (p.Asn170Lys)
|
rs2492764825
|
|
|
NM_015631.6(TCTN3):c.513T>C (p.Tyr171=)
|
rs2139750906
|
|
|
NM_015631.6(TCTN3):c.51C>G (p.Pro17=)
|
rs1482900802
|
|
|
NM_015631.6(TCTN3):c.51C>T (p.Pro17=)
|
|
|
|
NM_015631.6(TCTN3):c.52G>A (p.Asp18Asn)
|
rs2139769650
|
|
|
NM_015631.6(TCTN3):c.540A>G (p.Ala180=)
|
|
|
|
NM_015631.6(TCTN3):c.566A>G (p.Glu189Gly)
|
rs2492764313
|
|
|
NM_015631.6(TCTN3):c.57C>T (p.Gly19=)
|
rs2492796188
|
|
|
NM_015631.6(TCTN3):c.585C>T (p.Phe195=)
|
rs931950647
|
|
|
NM_015631.6(TCTN3):c.593C>T (p.Thr198Ile)
|
rs2492764054
|
|
|
NM_015631.6(TCTN3):c.614C>T (p.Pro205Leu)
|
rs2139750466
|
|
|
NM_015631.6(TCTN3):c.615A>G (p.Pro205=)
|
rs1247615743
|
|
|
NM_015631.6(TCTN3):c.622dup (p.Tyr208fs)
|
|
|
|
NM_015631.6(TCTN3):c.627+6C>G
|
rs190843846
|
|
|
NM_015631.6(TCTN3):c.627G>A (p.Arg209=)
|
rs752918067
|
|
|
NM_015631.6(TCTN3):c.628-12T>C
|
rs2097949401
|
|
|
NM_015631.6(TCTN3):c.628-14T>C
|
rs1289293655
|
|
|
NM_015631.6(TCTN3):c.62G>T (p.Arg21Leu)
|
rs1406986953
|
|
|
NM_015631.6(TCTN3):c.63dup (p.Pro22fs)
|
|
|
|
NM_015631.6(TCTN3):c.650_653del (p.Tyr217fs)
|
rs749018985
|
|
|
NM_015631.6(TCTN3):c.657C>T (p.Pro219=)
|
rs2492762502
|
|
|
NM_015631.6(TCTN3):c.670A>G (p.Ile224Val)
|
rs2492762393
|
|
|
NM_015631.6(TCTN3):c.675C>T (p.Ser225=)
|
rs2097949322
|
|
|
NM_015631.6(TCTN3):c.707G>A (p.Gly236Glu)
|
rs2492762228
|
|
|
NM_015631.6(TCTN3):c.710del (p.Gly237fs)
|
rs779729881
|
|
|
NM_015631.6(TCTN3):c.717_718del (p.Cys239_Ala240insTer)
|
rs1276774121
|
|
|
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.736+18G>A
|
rs1019392410
|
|
|
NM_015631.6(TCTN3):c.736+19T>C
|
rs1463112771
|
|
|
NM_015631.6(TCTN3):c.737-18del
|
rs2492761526
|
|
|
NM_015631.6(TCTN3):c.737-1G>C
|
rs2492761440
|
|
|
NM_015631.6(TCTN3):c.737-1G>T
|
|
|
|
NM_015631.6(TCTN3):c.737_738insC (p.Leu248fs)
|
rs2492761413
|
|
|
NM_015631.6(TCTN3):c.754del (p.Ser252fs)
|
rs2139749042
|
|
|
NM_015631.6(TCTN3):c.755G>A (p.Ser252Asn)
|
rs1566074509
|
|
|
NM_015631.6(TCTN3):c.760A>G (p.Thr254Ala)
|
rs2492761267
|
|
|
NM_015631.6(TCTN3):c.769C>A (p.Arg257Ser)
|
rs780304630
|
|
|
NM_015631.6(TCTN3):c.770G>A (p.Arg257His)
|
rs758733887
|
|
|
NM_015631.6(TCTN3):c.774T>C (p.Phe258=)
|
rs2492761098
|
|
|
NM_015631.6(TCTN3):c.776dup (p.Lys260fs)
|
rs750644251
|
|
|
NM_015631.6(TCTN3):c.783C>T (p.Asn261=)
|
rs1335840474
|
|
|
NM_015631.6(TCTN3):c.78C>T (p.Ser26=)
|
rs2492795939
|
|
|
NM_015631.6(TCTN3):c.813C>A (p.Ala271=)
|
|
|
|
NM_015631.6(TCTN3):c.837C>T (p.Asn279=)
|
|
|
|
NM_015631.6(TCTN3):c.843A>G (p.Thr281=)
|
rs768907277
|
|
|
NM_015631.6(TCTN3):c.847T>C (p.Leu283=)
|
rs2139748578
|
|
|
NM_015631.6(TCTN3):c.850A>G (p.Lys284Glu)
|
rs2139748562
|
|
|
NM_015631.6(TCTN3):c.851dup (p.Val285fs)
|
rs1202783767
|
|
|
NM_015631.6(TCTN3):c.852+7G>A
|
rs1275344078
|
|
|
NM_015631.6(TCTN3):c.852+9_852+10dup
|
|
|
|
NM_015631.6(TCTN3):c.853-11T>C
|
rs2492758217
|
|
|
NM_015631.6(TCTN3):c.853-1G>T
|
|
|
|
NM_015631.6(TCTN3):c.867G>A (p.Met289Ile)
|
rs2492758017
|
|
|
NM_015631.6(TCTN3):c.873T>A (p.Asp291Glu)
|
rs2139747266
|
|
|
NM_015631.6(TCTN3):c.877C>A (p.Gln293Lys)
|
rs764091969
|
|
|
NM_015631.6(TCTN3):c.888+13T>C
|
rs2492757689
|
|
|
NM_015631.6(TCTN3):c.888+14G>T
|
rs2139747034
|
|
|
NM_015631.6(TCTN3):c.888+18C>A
|
rs2492757650
|
|
|
NM_015631.6(TCTN3):c.888+2T>C
|
|
|
|
NM_015631.6(TCTN3):c.888+3A>T
|
rs749620204
|
|
|
NM_015631.6(TCTN3):c.907C>T (p.Leu303Phe)
|
rs2492753584
|
|
|
NM_015631.6(TCTN3):c.908_911del (p.Leu303fs)
|
rs2139744863
|
|
|
NM_015631.6(TCTN3):c.910dup (p.Thr304fs)
|
rs1157302392
|
|
|
NM_015631.6(TCTN3):c.911C>T (p.Thr304Ile)
|
rs1024201294
|
|
|
NM_015631.6(TCTN3):c.920_941del (p.Ala307fs)
|
rs2492753291
|
|
|
NM_015631.6(TCTN3):c.934T>C (p.Leu312=)
|
rs2492753344
|
|
|
NM_015631.6(TCTN3):c.936G>A (p.Leu312=)
|
rs2492753329
|
|
|
NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg)
|
rs793888508
|
|
|
NM_015631.6(TCTN3):c.959T>C (p.Val320Ala)
|
rs546805063
|
|
|
NM_015631.6(TCTN3):c.960A>G (p.Val320=)
|
rs748640238
|
|
|
NM_015631.6(TCTN3):c.965C>G (p.Ser322Cys)
|
rs1449600951
|
|
|
NM_015631.6(TCTN3):c.969+17C>T
|
rs2139744560
|
|
|
NM_015631.6(TCTN3):c.969+18A>C
|
rs889709126
|
|
|
NM_015631.6(TCTN3):c.969+19_969+37del
|
rs2492752706
|
|
|
NM_015631.6(TCTN3):c.969+2T>G
|
rs2492752964
|
|
|
NM_015631.6(TCTN3):c.970-15C>A
|
rs773472275
|
|
|
NM_015631.6(TCTN3):c.970-15C>G
|
rs773472275
|
|
|
NM_015631.6(TCTN3):c.970-2A>G
|
rs777263669
|
|
|
NM_015631.6(TCTN3):c.979G>A (p.Glu327Lys)
|
rs745387147
|
|
|
NM_015631.6(TCTN3):c.982A>T (p.Ile328Leu)
|
rs1267152740
|
|
|
NM_015631.6(TCTN3):c.993T>C (p.Asn331=)
|
rs1273105227
|
|
|
NM_015631.6(TCTN3):c.994G>A (p.Gly332Arg)
|
rs2492749189
|
|
|
NM_015631.6(TCTN3):c.995G>C (p.Gly332Ala)
|
rs2492749167
|
|
|
NM_015631.6(TCTN3):c.999T>G (p.Thr333=)
|
|
|
|
NM_015631.6(TCTN3):c.9C>T (p.Thr3=)
|
|
|
|
NM_023073.3(CPLANE1):c.-234G>A
|
rs80164363
|
|
|
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]
|
|
|