NM_001382391.1(CSPP1):c.815G>A (p.Arg272Gln)
|
rs201609022
|
0.00214
|
NM_001382391.1(CSPP1):c.2590A>C (p.Ser864Arg)
|
rs201259375
|
0.00198
|
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr)
|
rs140026883
|
0.00196
|
NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys)
|
rs200722491
|
0.00175
|
NM_001382391.1(CSPP1):c.632G>T (p.Arg211Leu)
|
rs193231165
|
0.00156
|
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser)
|
rs183168709
|
0.00129
|
NM_001329943.3(KIAA0586):c.4430-6A>C
|
rs199732899
|
0.00118
|
NM_001329943.3(KIAA0586):c.3862G>A (p.Asp1288Asn)
|
rs181413894
|
0.00096
|
NM_001382391.1(CSPP1):c.1061A>G (p.Asp354Gly)
|
rs146127619
|
0.00093
|
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=)
|
rs201202020
|
0.00088
|
NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg)
|
rs200158932
|
0.00071
|
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=)
|
rs143158234
|
0.00053
|
NM_001382391.1(CSPP1):c.3157-15A>G
|
rs199558831
|
0.00052
|
NM_001329943.3(KIAA0586):c.1653T>C (p.Ile551=)
|
rs374601841
|
0.00048
|
NM_001382391.1(CSPP1):c.51C>T (p.Ala17=)
|
rs370003497
|
0.00040
|
NM_001329943.3(KIAA0586):c.3781+8A>G
|
rs368737744
|
0.00034
|
NM_001329943.3(KIAA0586):c.2554-9C>T
|
rs202018500
|
0.00033
|
NM_001329943.3(KIAA0586):c.3304+12A>G
|
rs370645135
|
0.00031
|
NM_001329943.3(KIAA0586):c.4326C>T (p.Tyr1442=)
|
rs139175231
|
0.00029
|
NM_001329943.3(KIAA0586):c.1254-13T>C
|
rs368443727
|
0.00027
|
NM_001382391.1(CSPP1):c.1094-11C>T
|
rs753835152
|
0.00026
|
NM_001382391.1(CSPP1):c.1497-13T>C
|
rs193022291
|
0.00025
|
NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp)
|
rs199554737
|
0.00024
|
NM_001382391.1(CSPP1):c.2268A>G (p.Glu756=)
|
rs199962946
|
0.00024
|
NM_001382391.1(CSPP1):c.2539-5T>C
|
rs555281942
|
0.00023
|
NM_001329943.3(KIAA0586):c.*2C>T
|
rs376691503
|
0.00022
|
NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=)
|
rs188676684
|
0.00021
|
NM_001329943.3(KIAA0586):c.660C>T (p.His220=)
|
rs555609562
|
0.00021
|
NM_001329943.3(KIAA0586):c.1896A>G (p.Lys632=)
|
rs760162925
|
0.00019
|
NM_001329943.3(KIAA0586):c.2964C>T (p.Gly988=)
|
rs767722181
|
0.00019
|
NM_001329943.3(KIAA0586):c.2163C>T (p.Gly721=)
|
rs368904420
|
0.00017
|
NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu)
|
rs531527716
|
0.00017
|
NM_001329943.3(KIAA0586):c.1143A>G (p.Leu381=)
|
rs370408761
|
0.00016
|
NM_001329943.3(KIAA0586):c.117G>A (p.Glu39=)
|
rs190089844
|
0.00016
|
NM_001329943.3(KIAA0586):c.3555A>G (p.Glu1185=)
|
rs780038095
|
0.00016
|
NM_001329943.3(KIAA0586):c.2536G>C (p.Val846Leu)
|
rs747245461
|
0.00015
|
NM_001329943.3(KIAA0586):c.3528-12T>G
|
rs553895000
|
0.00014
|
NM_001329943.3(KIAA0586):c.4495+3790C>T
|
rs757410007
|
0.00014
|
NM_001329943.3(KIAA0586):c.2832G>A (p.Glu944=)
|
rs373201020
|
0.00013
|
NM_001329943.3(KIAA0586):c.2892T>C (p.Pro964=)
|
rs527907908
|
0.00013
|
NM_001382391.1(CSPP1):c.1245+15dup
|
rs766672873
|
0.00013
|
NM_001382391.1(CSPP1):c.3578C>T (p.Thr1193Met)
|
rs201142840
|
0.00013
|
NM_001329943.3(KIAA0586):c.411-1476T>G
|
rs768486087
|
0.00012
|
NM_001382391.1(CSPP1):c.1995C>T (p.His665=)
|
rs746724587
|
0.00012
|
NM_001382391.1(CSPP1):c.2772G>A (p.Glu924=)
|
rs369933035
|
0.00012
|
NM_001382391.1(CSPP1):c.66G>A (p.Glu22=)
|
rs372836006
|
0.00012
|
NM_001329943.3(KIAA0586):c.2856C>T (p.Ile952=)
|
rs780091990
|
0.00011
|
NM_001382391.1(CSPP1):c.1470C>T (p.Ser490=)
|
rs548142175
|
0.00011
|
NM_001329943.3(KIAA0586):c.4404T>C (p.Ser1468=)
|
rs774903272
|
0.00010
|
NM_001329943.3(KIAA0586):c.3859-17C>T
|
rs764917881
|
0.00009
|
NM_001329943.3(KIAA0586):c.4559C>T (p.Pro1520Leu)
|
rs750833160
|
0.00009
|
NM_001329943.3(KIAA0586):c.657A>G (p.Lys219=)
|
rs533752814
|
0.00009
|
NM_001329943.3(KIAA0586):c.789A>G (p.Gln263=)
|
rs550354835
|
0.00009
|
NM_001382391.1(CSPP1):c.1697+19G>T
|
rs563103826
|
0.00009
|
NM_001382391.1(CSPP1):c.2672C>T (p.Pro891Leu)
|
rs755021253
|
0.00009
|
NM_001382391.1(CSPP1):c.2953G>A (p.Glu985Lys)
|
rs763639767
|
0.00009
|
NM_001382391.1(CSPP1):c.3330+18C>A
|
rs372999075
|
0.00009
|
NM_001382391.1(CSPP1):c.511A>G (p.Ile171Val)
|
rs188917565
|
0.00009
|
NM_001382391.1(CSPP1):c.964C>T (p.His322Tyr)
|
rs145635985
|
0.00009
|
NM_001329943.3(KIAA0586):c.1269A>G (p.Glu423=)
|
rs190675549
|
0.00008
|
NM_001329943.3(KIAA0586):c.2736G>A (p.Pro912=)
|
rs368984896
|
0.00008
|
NM_001329943.3(KIAA0586):c.962-14A>T
|
rs200528557
|
0.00008
|
NM_001329943.3(KIAA0586):c.1077G>A (p.Lys359=)
|
rs199623501
|
0.00007
|
NM_001329943.3(KIAA0586):c.1752C>G (p.Thr584=)
|
rs534407882
|
0.00007
|
NM_001329943.3(KIAA0586):c.962-15A>C
|
rs767414174
|
0.00007
|
NM_001382391.1(CSPP1):c.1141C>T (p.Leu381=)
|
rs539302524
|
0.00007
|
NM_001329943.3(KIAA0586):c.1785A>T (p.Val595=)
|
rs371990780
|
0.00006
|
NM_001329943.3(KIAA0586):c.2060-17A>T
|
rs753287970
|
0.00006
|
NM_001329943.3(KIAA0586):c.3120T>G (p.Ala1040=)
|
rs755369049
|
0.00006
|
NM_001329943.3(KIAA0586):c.411-1365C>T
|
rs905321611
|
0.00006
|
NM_001329943.3(KIAA0586):c.4496-3801G>A
|
rs575409268
|
0.00006
|
NM_001329943.3(KIAA0586):c.783A>G (p.Leu261=)
|
rs370332963
|
0.00006
|
NM_001329943.3(KIAA0586):c.987G>A (p.Thr329=)
|
rs552791846
|
0.00006
|
NM_001382391.1(CSPP1):c.1209G>A (p.Arg403=)
|
rs370123119
|
0.00006
|
NM_001382391.1(CSPP1):c.2841G>A (p.Arg947=)
|
rs368660068
|
0.00006
|
NM_001329943.3(KIAA0586):c.411-1495T>C
|
rs1364313825
|
0.00005
|
NM_001329943.3(KIAA0586):c.4113T>C (p.Ser1371=)
|
rs200906427
|
0.00005
|
NM_001329943.3(KIAA0586):c.4449T>C (p.Asp1483=)
|
rs538659713
|
0.00005
|
NM_001329943.3(KIAA0586):c.534C>T (p.Thr178=)
|
rs762154780
|
0.00005
|
NM_001382391.1(CSPP1):c.3157-7C>T
|
rs750714624
|
0.00005
|
NM_001329943.3(KIAA0586):c.1572A>G (p.Leu524=)
|
rs750393862
|
0.00004
|
NM_001329943.3(KIAA0586):c.1885-11T>C
|
rs1344938086
|
0.00004
|
NM_001329943.3(KIAA0586):c.271-11A>G
|
rs752733321
|
0.00004
|
NM_001329943.3(KIAA0586):c.3183G>A (p.Thr1061=)
|
rs369590767
|
0.00004
|
NM_001329943.3(KIAA0586):c.3528-20A>G
|
rs759897107
|
0.00004
|
NM_001329943.3(KIAA0586):c.3729C>T (p.Pro1243=)
|
rs377467641
|
0.00004
|
NM_001329943.3(KIAA0586):c.3858+10G>A
|
rs1023641988
|
0.00004
|
NM_001329943.3(KIAA0586):c.4430-6dup
|
rs755622220
|
0.00004
|
NM_001329943.3(KIAA0586):c.4646G>A (p.Ter1549=)
|
rs758764999
|
0.00004
|
NM_001329943.3(KIAA0586):c.576G>A (p.Pro192=)
|
rs369143869
|
0.00004
|
NM_001329943.3(KIAA0586):c.723T>C (p.His241=)
|
rs373333959
|
0.00004
|
NM_001382391.1(CSPP1):c.15G>A (p.Leu5=)
|
rs755838311
|
0.00004
|
NM_001382391.1(CSPP1):c.1619-4T>C
|
rs774722380
|
0.00004
|
NM_001382391.1(CSPP1):c.1683A>G (p.Leu561=)
|
rs754822898
|
0.00004
|
NM_001382391.1(CSPP1):c.1776G>A (p.Pro592=)
|
rs201940935
|
0.00004
|
NM_001382391.1(CSPP1):c.2128+16T>G
|
rs770694705
|
0.00004
|
NM_001382391.1(CSPP1):c.2784A>G (p.Gln928=)
|
rs754377738
|
0.00004
|
NM_001382391.1(CSPP1):c.2829-6C>A
|
rs202184488
|
0.00004
|
NM_001382391.1(CSPP1):c.3157-16A>G
|
rs374129705
|
0.00004
|
NM_001382391.1(CSPP1):c.484-4A>G
|
rs142440392
|
0.00004
|
NM_001329943.3(KIAA0586):c.1656+4T>C
|
rs368165741
|
0.00003
|
NM_001329943.3(KIAA0586):c.1779A>G (p.Lys593=)
|
rs1356132325
|
0.00003
|
NM_001329943.3(KIAA0586):c.2944+13G>T
|
rs377092455
|
0.00003
|
NM_001329943.3(KIAA0586):c.3162A>T (p.Pro1054=)
|
rs749756433
|
0.00003
|
NM_001329943.3(KIAA0586):c.3781+20T>G
|
rs770866188
|
0.00003
|
NM_001329943.3(KIAA0586):c.4473G>A (p.Pro1491=)
|
rs768806838
|
0.00003
|
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=)
|
rs752326108
|
0.00003
|
NM_001382391.1(CSPP1):c.1698-15G>A
|
rs777747860
|
0.00003
|
NM_001382391.1(CSPP1):c.2133T>C (p.His711=)
|
rs755593188
|
0.00003
|
NM_001382391.1(CSPP1):c.2711-15A>G
|
rs756159198
|
0.00003
|
NM_001382391.1(CSPP1):c.3221-14C>T
|
rs202201525
|
0.00003
|
NM_001382391.1(CSPP1):c.3405T>G (p.Leu1135=)
|
rs376215036
|
0.00003
|
NM_001244189.2(KIAA0586):c.9+14C>T
|
rs1036728165
|
0.00002
|
NM_001329943.3(KIAA0586):c.1130-14C>G
|
rs1457711769
|
0.00002
|
NM_001329943.3(KIAA0586):c.1656+7C>A
|
rs777449141
|
0.00002
|
NM_001329943.3(KIAA0586):c.3030C>T (p.Asn1010=)
|
rs769869324
|
0.00002
|
NM_001329943.3(KIAA0586):c.3432A>C (p.Ser1144=)
|
rs1031513625
|
0.00002
|
NM_001329943.3(KIAA0586):c.3782-18T>C
|
rs1430875009
|
0.00002
|
NM_001329943.3(KIAA0586):c.3849C>T (p.Ala1283=)
|
rs113191202
|
0.00002
|
NM_001329943.3(KIAA0586):c.3894G>A (p.Arg1298=)
|
rs1375416810
|
0.00002
|
NM_001329943.3(KIAA0586):c.4169-8G>C
|
rs766302985
|
0.00002
|
NM_001382391.1(CSPP1):c.-10-4A>T
|
rs762753703
|
0.00002
|
NM_001382391.1(CSPP1):c.-96C>T
|
rs751458139
|
0.00002
|
NM_001382391.1(CSPP1):c.1188-16del
|
rs773422166
|
0.00002
|
NM_001382391.1(CSPP1):c.1618+16G>A
|
rs768004861
|
0.00002
|
NM_001382391.1(CSPP1):c.2032A>C (p.Arg678=)
|
rs762725926
|
0.00002
|
NM_001382391.1(CSPP1):c.2128+10C>A
|
rs769248386
|
0.00002
|
NM_001382391.1(CSPP1):c.2329A>C (p.Arg777=)
|
rs758218835
|
0.00002
|
NM_001382391.1(CSPP1):c.2392-14T>C
|
rs781185001
|
0.00002
|
NM_001382391.1(CSPP1):c.2919C>T (p.Asp973=)
|
rs759957152
|
0.00002
|
NM_001382391.1(CSPP1):c.2968+10T>C
|
rs374325149
|
0.00002
|
NM_001382391.1(CSPP1):c.3221-19C>T
|
rs750846829
|
0.00002
|
NM_001382391.1(CSPP1):c.3330+11G>A
|
rs1339355378
|
0.00002
|
NM_001382391.1(CSPP1):c.3579G>A (p.Thr1193=)
|
rs552763349
|
0.00002
|
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=)
|
rs749332092
|
0.00002
|
NM_001382391.1(CSPP1):c.483+10G>C
|
rs758310938
|
0.00002
|
NM_001382391.1(CSPP1):c.744G>A (p.Arg248=)
|
rs1395679668
|
0.00002
|
NM_001382391.1(CSPP1):c.945G>A (p.Gly315=)
|
rs759906585
|
0.00002
|
NM_001382391.1(CSPP1):c.972G>C (p.Gly324=)
|
rs750069772
|
0.00002
|
NM_001329943.3(KIAA0586):c.1059G>A (p.Arg353=)
|
rs1283583747
|
0.00001
|
NM_001329943.3(KIAA0586):c.1206C>T (p.Thr402=)
|
rs779005063
|
0.00001
|
NM_001329943.3(KIAA0586):c.1254-7C>T
|
rs371116548
|
0.00001
|
NM_001329943.3(KIAA0586):c.1341A>G (p.Lys447=)
|
rs755857778
|
0.00001
|
NM_001329943.3(KIAA0586):c.1362+12A>G
|
rs374756414
|
0.00001
|
NM_001329943.3(KIAA0586):c.1363-18G>A
|
rs767847589
|
0.00001
|
NM_001329943.3(KIAA0586):c.1557G>A (p.Ser519=)
|
rs527483829
|
0.00001
|
NM_001329943.3(KIAA0586):c.1568C>T (p.Ala523Val)
|
rs556274091
|
0.00001
|
NM_001329943.3(KIAA0586):c.1656+11G>A
|
rs2040060841
|
0.00001
|
NM_001329943.3(KIAA0586):c.1791A>G (p.Pro597=)
|
rs1202169940
|
0.00001
|
NM_001329943.3(KIAA0586):c.200-15C>T
|
rs764593812
|
0.00001
|
NM_001329943.3(KIAA0586):c.2010A>G (p.Pro670=)
|
rs185266107
|
0.00001
|
NM_001329943.3(KIAA0586):c.201T>C (p.Gly67=)
|
rs750714192
|
0.00001
|
NM_001329943.3(KIAA0586):c.2028A>G (p.Pro676=)
|
rs559438142
|
0.00001
|
NM_001329943.3(KIAA0586):c.2255-11A>G
|
rs752712583
|
0.00001
|
NM_001329943.3(KIAA0586):c.2295A>C (p.Gly765=)
|
rs200937470
|
0.00001
|
NM_001329943.3(KIAA0586):c.2505G>C (p.Leu835=)
|
rs751246498
|
0.00001
|
NM_001329943.3(KIAA0586):c.2634+20A>G
|
rs546773198
|
0.00001
|
NM_001329943.3(KIAA0586):c.2635-17G>T
|
rs1478236874
|
0.00001
|
NM_001329943.3(KIAA0586):c.2823A>G (p.Gln941=)
|
rs776447854
|
0.00001
|
NM_001329943.3(KIAA0586):c.285C>T (p.Asp95=)
|
rs527601211
|
0.00001
|
NM_001329943.3(KIAA0586):c.2862G>A (p.Gly954=)
|
rs746874985
|
0.00001
|
NM_001329943.3(KIAA0586):c.2912G>A (p.Ser971Asn)
|
rs3783696
|
0.00001
|
NM_001329943.3(KIAA0586):c.3246T>G (p.Ser1082=)
|
rs779554669
|
0.00001
|
NM_001329943.3(KIAA0586):c.3304+19T>A
|
rs759164063
|
0.00001
|
NM_001329943.3(KIAA0586):c.3375G>A (p.Ala1125=)
|
rs765655962
|
0.00001
|
NM_001329943.3(KIAA0586):c.340+7G>T
|
rs763185199
|
0.00001
|
NM_001329943.3(KIAA0586):c.3527+12C>T
|
rs1369279718
|
0.00001
|
NM_001329943.3(KIAA0586):c.3594A>G (p.Pro1198=)
|
rs764114899
|
0.00001
|
NM_001329943.3(KIAA0586):c.3633G>A (p.Lys1211=)
|
rs780785984
|
0.00001
|
NM_001329943.3(KIAA0586):c.3687A>G (p.Thr1229=)
|
rs773464253
|
0.00001
|
NM_001329943.3(KIAA0586):c.3696T>C (p.Val1232=)
|
rs1480788246
|
0.00001
|
NM_001329943.3(KIAA0586):c.3717T>G (p.Thr1239=)
|
rs758690971
|
0.00001
|
NM_001329943.3(KIAA0586):c.3750A>G (p.Leu1250=)
|
rs1222178512
|
0.00001
|
NM_001329943.3(KIAA0586):c.3816T>C (p.Leu1272=)
|
rs755315601
|
0.00001
|
NM_001329943.3(KIAA0586):c.3819T>C (p.Asn1273=)
|
rs970331206
|
0.00001
|
NM_001329943.3(KIAA0586):c.3858+8A>G
|
rs370569855
|
0.00001
|
NM_001329943.3(KIAA0586):c.3948C>T (p.Asn1316=)
|
rs1437021057
|
0.00001
|
NM_001329943.3(KIAA0586):c.4035C>T (p.Pro1345=)
|
rs757412652
|
0.00001
|
NM_001329943.3(KIAA0586):c.411-1389C>T
|
rs1490162703
|
0.00001
|
NM_001329943.3(KIAA0586):c.4137A>G (p.Lys1379=)
|
rs372138430
|
0.00001
|
NM_001329943.3(KIAA0586):c.4185T>C (p.Asp1395=)
|
rs2044165528
|
0.00001
|
NM_001329943.3(KIAA0586):c.420C>T (p.Ser140=)
|
rs900262881
|
0.00001
|
NM_001329943.3(KIAA0586):c.4495+3778T>C
|
rs1022389517
|
0.00001
|
NM_001329943.3(KIAA0586):c.4628C>T (p.Ser1543Leu)
|
rs767347007
|
0.00001
|
NM_001329943.3(KIAA0586):c.726T>C (p.Asp242=)
|
rs1019648840
|
0.00001
|
NM_001329943.3(KIAA0586):c.808-14C>G
|
rs765153409
|
0.00001
|
NM_001329943.3(KIAA0586):c.888T>C (p.Tyr296=)
|
rs541197914
|
0.00001
|
NM_001329943.3(KIAA0586):c.891C>T (p.Ser297=)
|
rs1424135868
|
0.00001
|
NM_001382391.1(CSPP1):c.-112G>C
|
rs753468929
|
0.00001
|
NM_001382391.1(CSPP1):c.-76C>T
|
rs1261027822
|
0.00001
|
NM_001382391.1(CSPP1):c.-82G>C
|
rs778940690
|
0.00001
|
NM_001382391.1(CSPP1):c.1023-9T>C
|
rs1161675884
|
0.00001
|
NM_001382391.1(CSPP1):c.1065C>T (p.Thr355=)
|
rs780635377
|
0.00001
|
NM_001382391.1(CSPP1):c.1123A>C (p.Arg375=)
|
rs1215710015
|
0.00001
|
NM_001382391.1(CSPP1):c.1188-10T>C
|
rs1458775172
|
0.00001
|
NM_001382391.1(CSPP1):c.1398A>G (p.Pro466=)
|
rs182555422
|
0.00001
|
NM_001382391.1(CSPP1):c.1416A>G (p.Pro472=)
|
rs747901737
|
0.00001
|
NM_001382391.1(CSPP1):c.1524A>G (p.Leu508=)
|
rs756441690
|
0.00001
|
NM_001382391.1(CSPP1):c.1623T>C (p.Gly541=)
|
rs1441641063
|
0.00001
|
NM_001382391.1(CSPP1):c.1782T>C (p.Pro594=)
|
rs759106091
|
0.00001
|
NM_001382391.1(CSPP1):c.1827+10C>A
|
rs757078413
|
0.00001
|
NM_001382391.1(CSPP1):c.1828-4C>A
|
rs1064797347
|
0.00001
|
NM_001382391.1(CSPP1):c.1875A>G (p.Glu625=)
|
rs1320611050
|
0.00001
|
NM_001382391.1(CSPP1):c.1959A>G (p.Ala653=)
|
rs1334965098
|
0.00001
|
NM_001382391.1(CSPP1):c.200-15T>C
|
rs1025519086
|
0.00001
|
NM_001382391.1(CSPP1):c.2128+17T>G
|
rs1465446692
|
0.00001
|
NM_001382391.1(CSPP1):c.2242-19A>T
|
rs771867162
|
0.00001
|
NM_001382391.1(CSPP1):c.2391+7C>G
|
rs1827123471
|
0.00001
|
NM_001382391.1(CSPP1):c.2436A>G (p.Arg812=)
|
rs775968442
|
0.00001
|
NM_001382391.1(CSPP1):c.2538+10A>G
|
rs141325681
|
0.00001
|
NM_001382391.1(CSPP1):c.2538+11G>A
|
rs758376225
|
0.00001
|
NM_001382391.1(CSPP1):c.2619C>T (p.Asp873=)
|
rs780284845
|
0.00001
|
NM_001382391.1(CSPP1):c.2643+7A>G
|
rs190584438
|
0.00001
|
NM_001382391.1(CSPP1):c.2658C>G (p.Ser886=)
|
rs763958350
|
0.00001
|
NM_001382391.1(CSPP1):c.2676G>A (p.Pro892=)
|
rs778144204
|
0.00001
|
NM_001382391.1(CSPP1):c.2754A>G (p.Lys918=)
|
rs1324539056
|
0.00001
|
NM_001382391.1(CSPP1):c.2829-4A>G
|
rs752142812
|
0.00001
|
NM_001382391.1(CSPP1):c.285C>T (p.Tyr95=)
|
rs567550598
|
0.00001
|
NM_001382391.1(CSPP1):c.2886T>A (p.Ala962=)
|
rs761971816
|
0.00001
|
NM_001382391.1(CSPP1):c.297T>C (p.Leu99=)
|
rs1810339109
|
0.00001
|
NM_001382391.1(CSPP1):c.303+7A>G
|
rs1810343333
|
0.00001
|
NM_001382391.1(CSPP1):c.3109+20G>A
|
rs373555747
|
0.00001
|
NM_001382391.1(CSPP1):c.3156+16C>A
|
rs773054384
|
0.00001
|
NM_001382391.1(CSPP1):c.3258C>T (p.Asp1086=)
|
rs769247285
|
0.00001
|
NM_001382391.1(CSPP1):c.3672A>C (p.Ala1224=)
|
rs1040715506
|
0.00001
|
NM_001382391.1(CSPP1):c.414A>G (p.Glu138=)
|
rs760017432
|
0.00001
|
NM_001382391.1(CSPP1):c.606A>G (p.Ala202=)
|
rs757510042
|
0.00001
|
NM_001382391.1(CSPP1):c.666T>C (p.Asp222=)
|
rs374780184
|
0.00001
|
NM_001382391.1(CSPP1):c.738T>C (p.His246=)
|
rs773951141
|
0.00001
|
NM_001382391.1(CSPP1):c.867G>A (p.Arg289=)
|
rs1446123007
|
0.00001
|
NM_001244189.2(KIAA0586):c.9+12G>C
|
rs2140365548
|
|
NM_001244189.2(KIAA0586):c.9+16C>T
|
|
|
NM_001329943.3(KIAA0586):c.*20A>G
|
|
|
NM_001329943.3(KIAA0586):c.-1T>C
|
|
|
NM_001329943.3(KIAA0586):c.-31T>G
|
|
|
NM_001329943.3(KIAA0586):c.-36G>A
|
rs781284563
|
|
NM_001329943.3(KIAA0586):c.-37C>G
|
|
|
NM_001329943.3(KIAA0586):c.-47A>G
|
|
|
NM_001329943.3(KIAA0586):c.1026A>G (p.Ala342=)
|
|
|
NM_001329943.3(KIAA0586):c.1125C>T (p.His375=)
|
|
|
NM_001329943.3(KIAA0586):c.1129+16A>C
|
rs1263079347
|
|
NM_001329943.3(KIAA0586):c.1129+20G>C
|
|
|
NM_001329943.3(KIAA0586):c.1130-12C>T
|
|
|
NM_001329943.3(KIAA0586):c.1130-16A>G
|
|
|
NM_001329943.3(KIAA0586):c.1130-18A>G
|
|
|
NM_001329943.3(KIAA0586):c.1130-20C>G
|
|
|
NM_001329943.3(KIAA0586):c.1130-7A>G
|
rs1656520928
|
|
NM_001329943.3(KIAA0586):c.1149A>G (p.Glu383=)
|
|
|
NM_001329943.3(KIAA0586):c.1200C>T (p.Asn400=)
|
|
|
NM_001329943.3(KIAA0586):c.1203C>T (p.Thr401=)
|
rs2039565444
|
|
NM_001329943.3(KIAA0586):c.1253+12A>T
|
|
|
NM_001329943.3(KIAA0586):c.1253+17G>A
|
|
|
NM_001329943.3(KIAA0586):c.1253+19A>C
|
|
|
NM_001329943.3(KIAA0586):c.1254-12A>G
|
|
|
NM_001329943.3(KIAA0586):c.1284T>C (p.Thr428=)
|
|
|
NM_001329943.3(KIAA0586):c.1320T>C (p.His440=)
|
|
|
NM_001329943.3(KIAA0586):c.1329C>T (p.Gly443=)
|
|
|
NM_001329943.3(KIAA0586):c.1332A>G (p.Gln444=)
|
|
|
NM_001329943.3(KIAA0586):c.135G>C (p.Pro45=)
|
|
|
NM_001329943.3(KIAA0586):c.1362+10G>T
|
|
|
NM_001329943.3(KIAA0586):c.1362+17C>T
|
|
|
NM_001329943.3(KIAA0586):c.1363-11T>C
|
rs2140842996
|
|
NM_001329943.3(KIAA0586):c.1377G>C (p.Leu459=)
|
|
|
NM_001329943.3(KIAA0586):c.138A>G (p.Ala46=)
|
|
|
NM_001329943.3(KIAA0586):c.1395A>G (p.Pro465=)
|
rs2140843741
|
|
NM_001329943.3(KIAA0586):c.139T>C (p.Leu47=)
|
|
|
NM_001329943.3(KIAA0586):c.1450T>C (p.Leu484=)
|
|
|
NM_001329943.3(KIAA0586):c.147A>G (p.Ala49=)
|
|
|
NM_001329943.3(KIAA0586):c.1503T>C (p.Leu501=)
|
|
|
NM_001329943.3(KIAA0586):c.1506A>G (p.Glu502=)
|
|
|
NM_001329943.3(KIAA0586):c.1515G>A (p.Leu505=)
|
|
|
NM_001329943.3(KIAA0586):c.1569T>C (p.Ala523=)
|
|
|
NM_001329943.3(KIAA0586):c.1575T>C (p.Ser525=)
|
|
|
NM_001329943.3(KIAA0586):c.1578C>T (p.Thr526=)
|
|
|
NM_001329943.3(KIAA0586):c.1583+17A>G
|
|
|
NM_001329943.3(KIAA0586):c.1583+7G>A
|
rs1333490071
|
|
NM_001329943.3(KIAA0586):c.1584-14T>C
|
rs2140853060
|
|
NM_001329943.3(KIAA0586):c.1584-18C>A
|
|
|
NM_001329943.3(KIAA0586):c.1584A>G (p.Arg528=)
|
rs776054856
|
|
NM_001329943.3(KIAA0586):c.1593A>G (p.Ser531=)
|
|
|
NM_001329943.3(KIAA0586):c.1638T>C (p.Thr546=)
|
|
|
NM_001329943.3(KIAA0586):c.1656+12A>G
|
|
|
NM_001329943.3(KIAA0586):c.1656+17A>T
|
|
|
NM_001329943.3(KIAA0586):c.1656+19C>A
|
|
|
NM_001329943.3(KIAA0586):c.1657-13T>C
|
|
|
NM_001329943.3(KIAA0586):c.1680T>C (p.Tyr560=)
|
|
|
NM_001329943.3(KIAA0586):c.1716C>A (p.Thr572=)
|
|
|
NM_001329943.3(KIAA0586):c.171G>T (p.Thr57=)
|
|
|
NM_001329943.3(KIAA0586):c.1782T>A (p.Ser594=)
|
|
|
NM_001329943.3(KIAA0586):c.1821G>A (p.Glu607=)
|
|
|
NM_001329943.3(KIAA0586):c.1824T>C (p.His608=)
|
|
|
NM_001329943.3(KIAA0586):c.1836A>C (p.Leu612=)
|
rs567927914
|
|
NM_001329943.3(KIAA0586):c.1836A>G (p.Leu612=)
|
rs567927914
|
|
NM_001329943.3(KIAA0586):c.1875G>A (p.Glu625=)
|
|
|
NM_001329943.3(KIAA0586):c.1881G>A (p.Lys627=)
|
|
|
NM_001329943.3(KIAA0586):c.1884+15T>C
|
rs1313237040
|
|
NM_001329943.3(KIAA0586):c.1885-12T>G
|
|
|
NM_001329943.3(KIAA0586):c.1885-12_1885-11del
|
|
|
NM_001329943.3(KIAA0586):c.1885-15A>T
|
|
|
NM_001329943.3(KIAA0586):c.1885-5C>T
|
rs752142962
|
|
NM_001329943.3(KIAA0586):c.1917T>C (p.Asp639=)
|
rs376649351
|
|
NM_001329943.3(KIAA0586):c.1920A>G (p.Glu640=)
|
rs1477846398
|
|
NM_001329943.3(KIAA0586):c.1974T>C (p.Thr658=)
|
|
|
NM_001329943.3(KIAA0586):c.1989A>G (p.Pro663=)
|
|
|
NM_001329943.3(KIAA0586):c.199+13A>C
|
rs769176872
|
|
NM_001329943.3(KIAA0586):c.199+13A>G
|
|
|
NM_001329943.3(KIAA0586):c.199+15G>A
|
|
|
NM_001329943.3(KIAA0586):c.200-5G>A
|
|
|
NM_001329943.3(KIAA0586):c.2016T>C (p.Pro672=)
|
|
|
NM_001329943.3(KIAA0586):c.2022C>T (p.Ser674=)
|
rs2140887489
|
|
NM_001329943.3(KIAA0586):c.2032A>C (p.Arg678=)
|
rs190081177
|
|
NM_001329943.3(KIAA0586):c.2034A>G (p.Arg678=)
|
|
|
NM_001329943.3(KIAA0586):c.2037A>G (p.Pro679=)
|
|
|
NM_001329943.3(KIAA0586):c.2059+20A>G
|
|
|
NM_001329943.3(KIAA0586):c.2060-16T>C
|
|
|
NM_001329943.3(KIAA0586):c.2060-19C>T
|
|
|
NM_001329943.3(KIAA0586):c.2061C>G (p.Gly687=)
|
|
|
NM_001329943.3(KIAA0586):c.2175T>C (p.Tyr725=)
|
|
|
NM_001329943.3(KIAA0586):c.2254+17T>C
|
rs2140941167
|
|
NM_001329943.3(KIAA0586):c.2254+20G>T
|
|
|
NM_001329943.3(KIAA0586):c.2262C>T (p.Thr754=)
|
|
|
NM_001329943.3(KIAA0586):c.2280C>T (p.Thr760=)
|
|
|
NM_001329943.3(KIAA0586):c.2304C>T (p.Val768=)
|
|
|
NM_001329943.3(KIAA0586):c.2442+11del
|
rs753806115
|
|
NM_001329943.3(KIAA0586):c.2442+15A>C
|
|
|
NM_001329943.3(KIAA0586):c.2442+16T>C
|
|
|
NM_001329943.3(KIAA0586):c.2442+9G>A
|
rs1490718693
|
|
NM_001329943.3(KIAA0586):c.2443-14G>A
|
|
|
NM_001329943.3(KIAA0586):c.2443-18T>C
|
|
|
NM_001329943.3(KIAA0586):c.2443-19A>G
|
|
|
NM_001329943.3(KIAA0586):c.2443-4T>C
|
rs911579183
|
|
NM_001329943.3(KIAA0586):c.2445A>G (p.Val815=)
|
|
|
NM_001329943.3(KIAA0586):c.2451C>T (p.Pro817=)
|
|
|
NM_001329943.3(KIAA0586):c.2469C>T (p.Ser823=)
|
|
|
NM_001329943.3(KIAA0586):c.2481T>C (p.Ser827=)
|
|
|
NM_001329943.3(KIAA0586):c.24G>A (p.Leu8=)
|
rs761492303
|
|
NM_001329943.3(KIAA0586):c.2505G>A (p.Leu835=)
|
rs751246498
|
|
NM_001329943.3(KIAA0586):c.2535T>A (p.Pro845=)
|
|
|
NM_001329943.3(KIAA0586):c.2553+20C>A
|
|
|
NM_001329943.3(KIAA0586):c.2554-4T>G
|
|
|
NM_001329943.3(KIAA0586):c.2554-9C>A
|
|
|
NM_001329943.3(KIAA0586):c.2556T>G (p.Thr852=)
|
|
|
NM_001329943.3(KIAA0586):c.2598A>G (p.Pro866=)
|
|
|
NM_001329943.3(KIAA0586):c.261G>T (p.Val87=)
|
|
|
NM_001329943.3(KIAA0586):c.2634+12T>C
|
rs766964981
|
|
NM_001329943.3(KIAA0586):c.264A>G (p.Ser88=)
|
rs2037178345
|
|
NM_001329943.3(KIAA0586):c.2787T>C (p.Ile929=)
|
|
|
NM_001329943.3(KIAA0586):c.2796A>G (p.Lys932=)
|
|
|
NM_001329943.3(KIAA0586):c.2825+15T>G
|
|
|
NM_001329943.3(KIAA0586):c.2826-10A>G
|
|
|
NM_001329943.3(KIAA0586):c.2826-11C>T
|
|
|
NM_001329943.3(KIAA0586):c.2826-12C>T
|
|
|
NM_001329943.3(KIAA0586):c.2847A>C (p.Ser949=)
|
|
|
NM_001329943.3(KIAA0586):c.2877G>A (p.Gln959=)
|
|
|
NM_001329943.3(KIAA0586):c.2883G>A (p.Gln961=)
|
rs1187492772
|
|
NM_001329943.3(KIAA0586):c.2907A>G (p.Ser969=)
|
|
|
NM_001329943.3(KIAA0586):c.2928A>G (p.Pro976=)
|
|
|
NM_001329943.3(KIAA0586):c.2944+13G>A
|
|
|
NM_001329943.3(KIAA0586):c.2944+16T>A
|
|
|
NM_001329943.3(KIAA0586):c.2944+17T>G
|
|
|
NM_001329943.3(KIAA0586):c.2944+19T>A
|
|
|
NM_001329943.3(KIAA0586):c.2945-4T>C
|
|
|
NM_001329943.3(KIAA0586):c.2961T>C (p.Ser987=)
|
|
|
NM_001329943.3(KIAA0586):c.2976T>A (p.Leu992=)
|
|
|
NM_001329943.3(KIAA0586):c.2976T>G (p.Leu992=)
|
|
|
NM_001329943.3(KIAA0586):c.2991T>C (p.Gly997=)
|
|
|
NM_001329943.3(KIAA0586):c.2997T>G (p.Pro999=)
|
rs1284387922
|
|
NM_001329943.3(KIAA0586):c.3018A>G (p.Lys1006=)
|
|
|
NM_001329943.3(KIAA0586):c.306T>G (p.Pro102=)
|
|
|
NM_001329943.3(KIAA0586):c.3123A>C (p.Ser1041=)
|
|
|
NM_001329943.3(KIAA0586):c.3129T>C (p.Asn1043=)
|
|
|
NM_001329943.3(KIAA0586):c.3144+20C>G
|
|
|
NM_001329943.3(KIAA0586):c.3144+20C>T
|
|
|
NM_001329943.3(KIAA0586):c.3144+7G>A
|
|
|
NM_001329943.3(KIAA0586):c.3145-12T>C
|
|
|
NM_001329943.3(KIAA0586):c.3145-16G>A
|
|
|
NM_001329943.3(KIAA0586):c.3145-8T>C
|
|
|
NM_001329943.3(KIAA0586):c.3216G>A (p.Glu1072=)
|
rs528416301
|
|
NM_001329943.3(KIAA0586):c.3304+14_3304+19del
|
|
|
NM_001329943.3(KIAA0586):c.3304+9_3304+10insAG
|
rs2141183723
|
|
NM_001329943.3(KIAA0586):c.3305-17T>A
|
|
|
NM_001329943.3(KIAA0586):c.3305-17_3305-16insG
|
|
|
NM_001329943.3(KIAA0586):c.3305-18_3305-17insA
|
|
|
NM_001329943.3(KIAA0586):c.3339T>C (p.Thr1113=)
|
|
|
NM_001329943.3(KIAA0586):c.3351C>A (p.Thr1117=)
|
|
|
NM_001329943.3(KIAA0586):c.3366T>G (p.Pro1122=)
|
|
|
NM_001329943.3(KIAA0586):c.336A>G (p.Gln112=)
|
|
|
NM_001329943.3(KIAA0586):c.3372A>G (p.Pro1124=)
|
|
|
NM_001329943.3(KIAA0586):c.3378G>A (p.Ala1126=)
|
|
|
NM_001329943.3(KIAA0586):c.3381A>C (p.Ala1127=)
|
|
|
NM_001329943.3(KIAA0586):c.3390C>T (p.Thr1130=)
|
rs2141193804
|
|
NM_001329943.3(KIAA0586):c.33A>G (p.Lys11=)
|
rs2140373069
|
|
NM_001329943.3(KIAA0586):c.340+13T>G
|
|
|
NM_001329943.3(KIAA0586):c.340+14A>G
|
|
|
NM_001329943.3(KIAA0586):c.341-17G>C
|
|
|
NM_001329943.3(KIAA0586):c.3438A>G (p.Pro1146=)
|
|
|
NM_001329943.3(KIAA0586):c.3474A>C (p.Pro1158=)
|
rs759687892
|
|
NM_001329943.3(KIAA0586):c.3527+17T>C
|
|
|
NM_001329943.3(KIAA0586):c.3528-15T>G
|
rs752835695
|
|
NM_001329943.3(KIAA0586):c.3528-16G>A
|
|
|
NM_001329943.3(KIAA0586):c.3561G>A (p.Glu1187=)
|
|
|
NM_001329943.3(KIAA0586):c.3564T>C (p.Ser1188=)
|
|
|
NM_001329943.3(KIAA0586):c.3624C>T (p.Ala1208=)
|
rs367676896
|
|
NM_001329943.3(KIAA0586):c.3639T>G (p.Pro1213=)
|
rs2141202944
|
|
NM_001329943.3(KIAA0586):c.363G>A (p.Gln121=)
|
rs368352741
|
|
NM_001329943.3(KIAA0586):c.3645C>T (p.Pro1215=)
|
|
|
NM_001329943.3(KIAA0586):c.3651G>A (p.Gln1217=)
|
rs1489789614
|
|
NM_001329943.3(KIAA0586):c.3669A>G (p.Ser1223=)
|
|
|
NM_001329943.3(KIAA0586):c.36A>G (p.Lys12=)
|
rs372215354
|
|
NM_001329943.3(KIAA0586):c.3777C>T (p.Pro1259=)
|
|
|
NM_001329943.3(KIAA0586):c.3781+18A>G
|
|
|
NM_001329943.3(KIAA0586):c.3782-18T>A
|
|
|
NM_001329943.3(KIAA0586):c.3786A>G (p.Leu1262=)
|
|
|
NM_001329943.3(KIAA0586):c.3813C>T (p.Asn1271=)
|
|
|
NM_001329943.3(KIAA0586):c.381A>G (p.Lys127=)
|
|
|
NM_001329943.3(KIAA0586):c.3858+16C>T
|
|
|
NM_001329943.3(KIAA0586):c.3858+7A>G
|
rs771949597
|
|
NM_001329943.3(KIAA0586):c.3858+9C>T
|
|
|
NM_001329943.3(KIAA0586):c.3859-13A>G
|
|
|
NM_001329943.3(KIAA0586):c.3859-16T>A
|
|
|
NM_001329943.3(KIAA0586):c.3906A>G (p.Lys1302=)
|
|
|
NM_001329943.3(KIAA0586):c.3918A>G (p.Ala1306=)
|
|
|
NM_001329943.3(KIAA0586):c.3966C>T (p.Ser1322=)
|
rs757393939
|
|
NM_001329943.3(KIAA0586):c.3990+19G>A
|
|
|
NM_001329943.3(KIAA0586):c.4002C>T (p.Asn1334=)
|
|
|
NM_001329943.3(KIAA0586):c.411-12T>G
|
|
|
NM_001329943.3(KIAA0586):c.411-1347C>T
|
|
|
NM_001329943.3(KIAA0586):c.411-1348dup
|
|
|
NM_001329943.3(KIAA0586):c.411-1349C>T
|
|
|
NM_001329943.3(KIAA0586):c.411-1355C>T
|
|
|
NM_001329943.3(KIAA0586):c.411-1380G>A
|
|
|
NM_001329943.3(KIAA0586):c.411-1491G>T
|
rs2140520688
|
|
NM_001329943.3(KIAA0586):c.411-15dup
|
|
|
NM_001329943.3(KIAA0586):c.411-4A>G
|
|
|
NM_001329943.3(KIAA0586):c.4114T>C (p.Leu1372=)
|
|
|
NM_001329943.3(KIAA0586):c.4122A>G (p.Gln1374=)
|
|
|
NM_001329943.3(KIAA0586):c.4168+13A>G
|
rs375052904
|
|
NM_001329943.3(KIAA0586):c.4168+8C>A
|
rs1331278032
|
|
NM_001329943.3(KIAA0586):c.4206A>C (p.Pro1402=)
|
rs369935221
|
|
NM_001329943.3(KIAA0586):c.4275A>G (p.Ala1425=)
|
|
|
NM_001329943.3(KIAA0586):c.4305C>G (p.Ala1435=)
|
rs144692893
|
|
NM_001329943.3(KIAA0586):c.4305C>T (p.Ala1435=)
|
rs144692893
|
|
NM_001329943.3(KIAA0586):c.4323+12A>G
|
|
|
NM_001329943.3(KIAA0586):c.4324-11A>T
|
|
|
NM_001329943.3(KIAA0586):c.4324-16A>G
|
rs376320678
|
|
NM_001329943.3(KIAA0586):c.4324-6A>G
|
|
|
NM_001329943.3(KIAA0586):c.4329A>G (p.Gln1443=)
|
rs2141479527
|
|
NM_001329943.3(KIAA0586):c.4332A>G (p.Leu1444=)
|
rs2141479570
|
|
NM_001329943.3(KIAA0586):c.4371A>G (p.Pro1457=)
|
|
|
NM_001329943.3(KIAA0586):c.4386A>G (p.Leu1462=)
|
|
|
NM_001329943.3(KIAA0586):c.4392T>A (p.Val1464=)
|
|
|
NM_001329943.3(KIAA0586):c.4398T>C (p.Asn1466=)
|
|
|
NM_001329943.3(KIAA0586):c.4429+11T>A
|
|
|
NM_001329943.3(KIAA0586):c.4429+16A>G
|
|
|
NM_001329943.3(KIAA0586):c.4429+17T>C
|
|
|
NM_001329943.3(KIAA0586):c.4430-15T>A
|
rs1212572767
|
|
NM_001329943.3(KIAA0586):c.4430-15T>C
|
|
|
NM_001329943.3(KIAA0586):c.4437A>G (p.Pro1479=)
|
rs780867053
|
|
NM_001329943.3(KIAA0586):c.447A>G (p.Val149=)
|
|
|
NM_001329943.3(KIAA0586):c.4482A>G (p.Thr1494=)
|
|
|
NM_001329943.3(KIAA0586):c.4495+12A>G
|
rs2140098467
|
|
NM_001329943.3(KIAA0586):c.4495+3726_4495+3732del
|
|
|
NM_001329943.3(KIAA0586):c.4495+3729T>C
|
|
|
NM_001329943.3(KIAA0586):c.4495+3730T>G
|
|
|
NM_001329943.3(KIAA0586):c.4495+3732T>A
|
|
|
NM_001329943.3(KIAA0586):c.4495+3737T>G
|
|
|
NM_001329943.3(KIAA0586):c.4495+3796G>T
|
|
|
NM_001329943.3(KIAA0586):c.4495+7T>C
|
|
|
NM_001329943.3(KIAA0586):c.4496-17G>A
|
|
|
NM_001329943.3(KIAA0586):c.4496-3794A>G
|
|
|
NM_001329943.3(KIAA0586):c.4496-3799A>G
|
|
|
NM_001329943.3(KIAA0586):c.4496-3803T>G
|
|
|
NM_001329943.3(KIAA0586):c.4496-3816C>T
|
|
|
NM_001329943.3(KIAA0586):c.4502A>G (p.Lys1501Arg)
|
|
|
NM_001329943.3(KIAA0586):c.4505C>T (p.Ala1502Val)
|
rs2140156164
|
|
NM_001329943.3(KIAA0586):c.4517C>T (p.Ser1506Phe)
|
|
|
NM_001329943.3(KIAA0586):c.4562C>T (p.Ser1521Leu)
|
|
|
NM_001329943.3(KIAA0586):c.456A>G (p.Leu152=)
|
|
|
NM_001329943.3(KIAA0586):c.4595G>A (p.Ser1532Asn)
|
rs2047081237
|
|
NM_001329943.3(KIAA0586):c.4616A>G (p.Asp1539Gly)
|
|
|
NM_001329943.3(KIAA0586):c.468C>G (p.Gly156=)
|
|
|
NM_001329943.3(KIAA0586):c.492G>A (p.Gln164=)
|
|
|
NM_001329943.3(KIAA0586):c.576G>T (p.Pro192=)
|
|
|
NM_001329943.3(KIAA0586):c.585+17_585+29del
|
|
|
NM_001329943.3(KIAA0586):c.586-16G>T
|
|
|
NM_001329943.3(KIAA0586):c.586-17T>C
|
|
|
NM_001329943.3(KIAA0586):c.586-4T>G
|
|
|
NM_001329943.3(KIAA0586):c.636T>C (p.Ser212=)
|
|
|
NM_001329943.3(KIAA0586):c.642A>G (p.Leu214=)
|
|
|
NM_001329943.3(KIAA0586):c.729C>T (p.His243=)
|
rs774888789
|
|
NM_001329943.3(KIAA0586):c.750T>A (p.Phe250Leu)
|
rs577258273
|
|
NM_001329943.3(KIAA0586):c.786A>G (p.Gln262=)
|
rs1487078229
|
|
NM_001329943.3(KIAA0586):c.807+10A>C
|
rs368833496
|
|
NM_001329943.3(KIAA0586):c.807+12A>G
|
|
|
NM_001329943.3(KIAA0586):c.807+19G>C
|
|
|
NM_001329943.3(KIAA0586):c.807+8del
|
rs2140568510
|
|
NM_001329943.3(KIAA0586):c.807+9A>G
|
rs2140568561
|
|
NM_001329943.3(KIAA0586):c.808-13T>G
|
rs1364907790
|
|
NM_001329943.3(KIAA0586):c.808-20A>C
|
|
|
NM_001329943.3(KIAA0586):c.831C>G (p.Leu277=)
|
|
|
NM_001329943.3(KIAA0586):c.852T>C (p.Pro284=)
|
rs2140662420
|
|
NM_001329943.3(KIAA0586):c.891C>A (p.Ser297=)
|
|
|
NM_001329943.3(KIAA0586):c.930A>G (p.Pro310=)
|
|
|
NM_001329943.3(KIAA0586):c.942C>T (p.Asn314=)
|
|
|
NM_001329943.3(KIAA0586):c.961+11G>T
|
|
|
NM_001329943.3(KIAA0586):c.962-14A>C
|
rs200528557
|
|
NM_001329943.3(KIAA0586):c.962-19A>T
|
|
|
NM_001329943.3(KIAA0586):c.975A>G (p.Glu325=)
|
|
|
NM_001382391.1(CSPP1):c.-10-13T>A
|
|
|
NM_001382391.1(CSPP1):c.-10-20A>G
|
|
|
NM_001382391.1(CSPP1):c.-10-5T>A
|
rs770289522
|
|
NM_001382391.1(CSPP1):c.-103C>T
|
rs202181896
|
|
NM_001382391.1(CSPP1):c.-106C>T
|
rs2129538421
|
|
NM_001382391.1(CSPP1):c.-121A>C
|
|
|
NM_001382391.1(CSPP1):c.-139G>C
|
|
|
NM_001382391.1(CSPP1):c.-36C>T
|
|
|
NM_001382391.1(CSPP1):c.-43A>C
|
|
|
NM_001382391.1(CSPP1):c.-45_-42del
|
rs762530713
|
|
NM_001382391.1(CSPP1):c.-73G>C
|
|
|
NM_001382391.1(CSPP1):c.-85T>C
|
rs2129538434
|
|
NM_001382391.1(CSPP1):c.-91G>A
|
rs200332502
|
|
NM_001382391.1(CSPP1):c.-94A>G
|
rs1382795214
|
|
NM_001382391.1(CSPP1):c.100-11G>A
|
|
|
NM_001382391.1(CSPP1):c.100-12T>C
|
|
|
NM_001382391.1(CSPP1):c.1023-14C>T
|
|
|
NM_001382391.1(CSPP1):c.1023-16G>A
|
|
|
NM_001382391.1(CSPP1):c.1023-16_1023-13del
|
|
|
NM_001382391.1(CSPP1):c.1023-4T>G
|
|
|
NM_001382391.1(CSPP1):c.1023-9T>A
|
|
|
NM_001382391.1(CSPP1):c.1029A>T (p.Pro343=)
|
|
|
NM_001382391.1(CSPP1):c.106T>C (p.Leu36=)
|
|
|
NM_001382391.1(CSPP1):c.1093+16C>A
|
|
|
NM_001382391.1(CSPP1):c.1093+16C>G
|
|
|
NM_001382391.1(CSPP1):c.1093+17del
|
rs2129547787
|
|
NM_001382391.1(CSPP1):c.1094-6A>G
|
|
|
NM_001382391.1(CSPP1):c.1131G>A (p.Glu377=)
|
|
|
NM_001382391.1(CSPP1):c.114G>A (p.Ala38=)
|
rs566786304
|
|
NM_001382391.1(CSPP1):c.1187+19T>A
|
|
|
NM_001382391.1(CSPP1):c.1187+7A>G
|
|
|
NM_001382391.1(CSPP1):c.1188-15T>G
|
|
|
NM_001382391.1(CSPP1):c.1188-20A>C
|
|
|
NM_001382391.1(CSPP1):c.1188-5T>A
|
|
|
NM_001382391.1(CSPP1):c.1218G>A (p.Ala406=)
|
|
|
NM_001382391.1(CSPP1):c.123T>G (p.Ser41=)
|
rs775044108
|
|
NM_001382391.1(CSPP1):c.1245+14del
|
rs760948267
|
|
NM_001382391.1(CSPP1):c.1245+22_1245+36del
|
rs754206451
|
|
NM_001382391.1(CSPP1):c.1245+7G>A
|
|
|
NM_001382391.1(CSPP1):c.126A>G (p.Glu42=)
|
rs1283210787
|
|
NM_001382391.1(CSPP1):c.1288-11_1288-8del
|
|
|
NM_001382391.1(CSPP1):c.1288-12T>C
|
|
|
NM_001382391.1(CSPP1):c.1288-12del
|
|
|
NM_001382391.1(CSPP1):c.1317A>C (p.Ala439=)
|
|
|
NM_001382391.1(CSPP1):c.1320A>G (p.Pro440=)
|
rs1817847996
|
|
NM_001382391.1(CSPP1):c.1359A>G (p.Arg453=)
|
|
|
NM_001382391.1(CSPP1):c.1395C>A (p.Ala465=)
|
|
|
NM_001382391.1(CSPP1):c.1410C>T (p.Pro470=)
|
|
|
NM_001382391.1(CSPP1):c.1497-6A>G
|
|
|
NM_001382391.1(CSPP1):c.1497-8T>C
|
|
|
NM_001382391.1(CSPP1):c.1515A>G (p.Pro505=)
|
rs2129551348
|
|
NM_001382391.1(CSPP1):c.1521C>G (p.Pro507=)
|
|
|
NM_001382391.1(CSPP1):c.1554T>G (p.Thr518=)
|
rs1818326006
|
|
NM_001382391.1(CSPP1):c.1569A>T (p.Ala523=)
|
rs2129551359
|
|
NM_001382391.1(CSPP1):c.1599C>T (p.Phe533=)
|
|
|
NM_001382391.1(CSPP1):c.1618+12A>G
|
rs368578567
|
|
NM_001382391.1(CSPP1):c.1618+15G>T
|
|
|
NM_001382391.1(CSPP1):c.1618+20A>C
|
rs756484052
|
|
NM_001382391.1(CSPP1):c.1618+8A>G
|
|
|
NM_001382391.1(CSPP1):c.1619-13T>C
|
|
|
NM_001382391.1(CSPP1):c.1619-8T>C
|
rs2129551458
|
|
NM_001382391.1(CSPP1):c.162C>T (p.Asn54=)
|
|
|
NM_001382391.1(CSPP1):c.1638C>T (p.Gly546=)
|
rs1470629361
|
|
NM_001382391.1(CSPP1):c.1677C>T (p.His559=)
|
|
|
NM_001382391.1(CSPP1):c.1697+5_1697+16dup
|
|
|
NM_001382391.1(CSPP1):c.1698-12T>C
|
|
|
NM_001382391.1(CSPP1):c.1698-13_1698-12del
|
|
|
NM_001382391.1(CSPP1):c.1698-4G>C
|
|
|
NM_001382391.1(CSPP1):c.1704G>T (p.Thr568=)
|
|
|
NM_001382391.1(CSPP1):c.1710A>G (p.Gly570=)
|
|
|
NM_001382391.1(CSPP1):c.1722G>A (p.Leu574=)
|
|
|
NM_001382391.1(CSPP1):c.1749T>C (p.Asn583=)
|
|
|
NM_001382391.1(CSPP1):c.1764T>C (p.Phe588=)
|
|
|
NM_001382391.1(CSPP1):c.1806C>T (p.Tyr602=)
|
rs1036498137
|
|
NM_001382391.1(CSPP1):c.1828-11A>G
|
|
|
NM_001382391.1(CSPP1):c.1872A>G (p.Lys624=)
|
rs1822589349
|
|
NM_001382391.1(CSPP1):c.1911A>T (p.Thr637=)
|
rs561521861
|
|
NM_001382391.1(CSPP1):c.1975+18A>C
|
|
|
NM_001382391.1(CSPP1):c.1976-20G>A
|
|
|
NM_001382391.1(CSPP1):c.1989G>A (p.Arg663=)
|
|
|
NM_001382391.1(CSPP1):c.199+14T>A
|
rs2129541674
|
|
NM_001382391.1(CSPP1):c.200-13_200-11del
|
rs766452341
|
|
NM_001382391.1(CSPP1):c.200-13del
|
|
|
NM_001382391.1(CSPP1):c.200-18_200-16del
|
|
|
NM_001382391.1(CSPP1):c.200-5T>C
|
|
|
NM_001382391.1(CSPP1):c.2037A>T (p.Thr679=)
|
|
|
NM_001382391.1(CSPP1):c.2082C>T (p.Ala694=)
|
|
|
NM_001382391.1(CSPP1):c.2094T>C (p.Ala698=)
|
rs2129558010
|
|
NM_001382391.1(CSPP1):c.2101C>T (p.Leu701=)
|
|
|
NM_001382391.1(CSPP1):c.2103A>G (p.Leu701=)
|
|
|
NM_001382391.1(CSPP1):c.2121A>G (p.Lys707=)
|
rs1375950004
|
|
NM_001382391.1(CSPP1):c.2124C>T (p.Ser708=)
|
|
|
NM_001382391.1(CSPP1):c.2128+11A>C
|
|
|
NM_001382391.1(CSPP1):c.2128+23_2128+36del
|
rs11296619
|
|
NM_001382391.1(CSPP1):c.2128+24_2128+36del
|
|
|
NM_001382391.1(CSPP1):c.2128+7_2128+25del
|
rs2129558020
|
|
NM_001382391.1(CSPP1):c.2129-4C>G
|
|
|
NM_001382391.1(CSPP1):c.214T>C (p.Leu72=)
|
rs887024306
|
|
NM_001382391.1(CSPP1):c.2184T>C (p.Pro728=)
|
|
|
NM_001382391.1(CSPP1):c.2199G>A (p.Gln733=)
|
rs1826220671
|
|
NM_001382391.1(CSPP1):c.2241+15G>A
|
|
|
NM_001382391.1(CSPP1):c.2241+19A>C
|
|
|
NM_001382391.1(CSPP1):c.2241+20_2241+25del
|
rs2129559087
|
|
NM_001382391.1(CSPP1):c.2242-13T>C
|
|
|
NM_001382391.1(CSPP1):c.2242-18_2242-15del
|
rs747115433
|
|
NM_001382391.1(CSPP1):c.228T>C (p.Leu76=)
|
|
|
NM_001382391.1(CSPP1):c.2295A>G (p.Ala765=)
|
|
|
NM_001382391.1(CSPP1):c.2301A>G (p.Glu767=)
|
rs2129560136
|
|
NM_001382391.1(CSPP1):c.2316G>A (p.Arg772=)
|
rs1827105533
|
|
NM_001382391.1(CSPP1):c.2322A>G (p.Ala774=)
|
rs2129560142
|
|
NM_001382391.1(CSPP1):c.2343G>A (p.Gln781=)
|
rs2129560155
|
|
NM_001382391.1(CSPP1):c.2346G>A (p.Gln782=)
|
rs754878483
|
|
NM_001382391.1(CSPP1):c.2373A>G (p.Lys791=)
|
|
|
NM_001382391.1(CSPP1):c.2388G>A (p.Glu796=)
|
|
|
NM_001382391.1(CSPP1):c.2392-12T>G
|
rs1322610870
|
|
NM_001382391.1(CSPP1):c.2392-17_2392-12del
|
rs763447128
|
|
NM_001382391.1(CSPP1):c.2392-8T>C
|
|
|
NM_001382391.1(CSPP1):c.2421G>A (p.Arg807=)
|
rs1209655756
|
|
NM_001382391.1(CSPP1):c.2481T>C (p.Tyr827=)
|
rs1312436989
|
|
NM_001382391.1(CSPP1):c.2499C>T (p.His833=)
|
|
|
NM_001382391.1(CSPP1):c.2514C>T (p.Asp838=)
|
|
|
NM_001382391.1(CSPP1):c.2523T>C (p.Ile841=)
|
|
|
NM_001382391.1(CSPP1):c.2526G>A (p.Gly842=)
|
|
|
NM_001382391.1(CSPP1):c.2529A>G (p.Glu843=)
|
|
|
NM_001382391.1(CSPP1):c.252A>G (p.Lys84=)
|
|
|
NM_001382391.1(CSPP1):c.2538+13C>A
|
|
|
NM_001382391.1(CSPP1):c.2538+18A>G
|
|
|
NM_001382391.1(CSPP1):c.2538+19T>C
|
|
|
NM_001382391.1(CSPP1):c.2538+20G>A
|
|
|
NM_001382391.1(CSPP1):c.2539-13_2539-4del
|
rs753606187
|
|
NM_001382391.1(CSPP1):c.2539-8T>A
|
|
|
NM_001382391.1(CSPP1):c.2580C>T (p.Asn860=)
|
|
|
NM_001382391.1(CSPP1):c.2589A>G (p.Ala863=)
|
|
|
NM_001382391.1(CSPP1):c.2631T>C (p.Arg877=)
|
|
|
NM_001382391.1(CSPP1):c.2637T>C (p.Phe879=)
|
|
|
NM_001382391.1(CSPP1):c.2643+11T>C
|
|
|
NM_001382391.1(CSPP1):c.2643+16T>A
|
|
|
NM_001382391.1(CSPP1):c.2644-11T>C
|
|
|
NM_001382391.1(CSPP1):c.2644-12A>G
|
rs2129562431
|
|
NM_001382391.1(CSPP1):c.2644-15A>C
|
|
|
NM_001382391.1(CSPP1):c.2644-18G>C
|
|
|
NM_001382391.1(CSPP1):c.2685C>G (p.Ala895=)
|
rs2129562477
|
|
NM_001382391.1(CSPP1):c.2688G>A (p.Arg896=)
|
rs2129562485
|
|
NM_001382391.1(CSPP1):c.2697G>A (p.Gln899=)
|
|
|
NM_001382391.1(CSPP1):c.2703T>C (p.Arg901=)
|
|
|
NM_001382391.1(CSPP1):c.2711-13T>C
|
|
|
NM_001382391.1(CSPP1):c.2739A>G (p.Leu913=)
|
|
|
NM_001382391.1(CSPP1):c.274C>A (p.Arg92=)
|
|
|
NM_001382391.1(CSPP1):c.2763T>C (p.Arg921=)
|
rs2129562840
|
|
NM_001382391.1(CSPP1):c.2781A>G (p.Leu927=)
|
|
|
NM_001382391.1(CSPP1):c.2791T>C (p.Leu931=)
|
|
|
NM_001382391.1(CSPP1):c.2796A>G (p.Leu932=)
|
|
|
NM_001382391.1(CSPP1):c.2828+16C>A
|
rs749065903
|
|
NM_001382391.1(CSPP1):c.2828+20T>A
|
rs2129562857
|
|
NM_001382391.1(CSPP1):c.2829-7T>C
|
|
|
NM_001382391.1(CSPP1):c.2829-8A>G
|
|
|
NM_001382391.1(CSPP1):c.2832A>G (p.Lys944=)
|
|
|
NM_001382391.1(CSPP1):c.2835G>A (p.Lys945=)
|
|
|
NM_001382391.1(CSPP1):c.2862T>C (p.Asp954=)
|
rs1586718478
|
|
NM_001382391.1(CSPP1):c.291T>C (p.Arg97=)
|
|
|
NM_001382391.1(CSPP1):c.2943T>C (p.His981=)
|
|
|
NM_001382391.1(CSPP1):c.2969-19A>G
|
|
|
NM_001382391.1(CSPP1):c.2969-8T>A
|
|
|
NM_001382391.1(CSPP1):c.3015A>C (p.Pro1005=)
|
rs1831352053
|
|
NM_001382391.1(CSPP1):c.30A>G (p.Glu10=)
|
|
|
NM_001382391.1(CSPP1):c.3105C>T (p.Ala1035=)
|
|
|
NM_001382391.1(CSPP1):c.3110-7A>G
|
rs1832018947
|
|
NM_001382391.1(CSPP1):c.3126C>T (p.Ile1042=)
|
|
|
NM_001382391.1(CSPP1):c.3135T>C (p.Ala1045=)
|
|
|
NM_001382391.1(CSPP1):c.3141A>G (p.Val1047=)
|
|
|
NM_001382391.1(CSPP1):c.3157-19del
|
rs1446937196
|
|
NM_001382391.1(CSPP1):c.3168C>T (p.Asp1056=)
|
|
|
NM_001382391.1(CSPP1):c.3213T>C (p.Ala1071=)
|
|
|
NM_001382391.1(CSPP1):c.3220+13_3220+16del
|
|
|
NM_001382391.1(CSPP1):c.3220+8T>C
|
|
|
NM_001382391.1(CSPP1):c.3221-10G>A
|
|
|
NM_001382391.1(CSPP1):c.3221-5C>T
|
|
|
NM_001382391.1(CSPP1):c.3221-9T>A
|
rs753184305
|
|
NM_001382391.1(CSPP1):c.3222G>T (p.Gly1074=)
|
|
|
NM_001382391.1(CSPP1):c.3228C>T (p.Tyr1076=)
|
rs1442543547
|
|
NM_001382391.1(CSPP1):c.3273A>G (p.Pro1091=)
|
|
|
NM_001382391.1(CSPP1):c.3288T>C (p.Ser1096=)
|
rs2129575182
|
|
NM_001382391.1(CSPP1):c.3330+13C>A
|
|
|
NM_001382391.1(CSPP1):c.3330+13C>T
|
|
|
NM_001382391.1(CSPP1):c.3330+19T>A
|
|
|
NM_001382391.1(CSPP1):c.3330+20C>T
|
|
|
NM_001382391.1(CSPP1):c.3331-10C>T
|
rs774609234
|
|
NM_001382391.1(CSPP1):c.3331-7A>C
|
rs2129575934
|
|
NM_001382391.1(CSPP1):c.3331-8A>G
|
|
|
NM_001382391.1(CSPP1):c.3354A>G (p.Ala1118=)
|
|
|
NM_001382391.1(CSPP1):c.3366C>T (p.Leu1122=)
|
|
|
NM_001382391.1(CSPP1):c.3387T>C (p.Ser1129=)
|
rs2129575946
|
|
NM_001382391.1(CSPP1):c.33G>A (p.Glu11=)
|
rs1327593032
|
|
NM_001382391.1(CSPP1):c.3404T>G (p.Leu1135Arg)
|
rs546683385
|
|
NM_001382391.1(CSPP1):c.3420G>A (p.Glu1140=)
|
rs747965774
|
|
NM_001382391.1(CSPP1):c.3435A>G (p.Arg1145=)
|
rs2129575969
|
|
NM_001382391.1(CSPP1):c.3438G>C (p.Leu1146=)
|
|
|
NM_001382391.1(CSPP1):c.3469+10C>T
|
|
|
NM_001382391.1(CSPP1):c.3470-12T>C
|
|
|
NM_001382391.1(CSPP1):c.3470-16C>T
|
|
|
NM_001382391.1(CSPP1):c.3470-20G>A
|
|
|
NM_001382391.1(CSPP1):c.3470-4G>A
|
|
|
NM_001382391.1(CSPP1):c.3510A>G (p.Lys1170=)
|
|
|
NM_001382391.1(CSPP1):c.3525C>T (p.Asp1175=)
|
|
|
NM_001382391.1(CSPP1):c.3528A>C (p.Gly1176=)
|
rs2129576649
|
|
NM_001382391.1(CSPP1):c.3576A>G (p.Glu1192=)
|
rs760969187
|
|
NM_001382391.1(CSPP1):c.3580C>T (p.Leu1194=)
|
|
|
NM_001382391.1(CSPP1):c.3588T>C (p.Arg1196=)
|
rs2129576668
|
|
NM_001382391.1(CSPP1):c.3606G>C (p.Leu1202=)
|
|
|
NM_001382391.1(CSPP1):c.3639A>G (p.Pro1213=)
|
|
|
NM_001382391.1(CSPP1):c.3660C>A (p.Gly1220=)
|
|
|
NM_001382391.1(CSPP1):c.3660C>T (p.Gly1220=)
|
|
|
NM_001382391.1(CSPP1):c.3661C>T (p.Leu1221=)
|
rs2129576686
|
|
NM_001382391.1(CSPP1):c.385-12T>A
|
|
|
NM_001382391.1(CSPP1):c.417C>T (p.Tyr139=)
|
|
|
NM_001382391.1(CSPP1):c.42C>T (p.Ala14=)
|
|
|
NM_001382391.1(CSPP1):c.441A>G (p.Glu147=)
|
|
|
NM_001382391.1(CSPP1):c.468G>C (p.Val156=)
|
|
|
NM_001382391.1(CSPP1):c.486C>A (p.Pro162=)
|
|
|
NM_001382391.1(CSPP1):c.489G>A (p.Lys163=)
|
rs1479574918
|
|
NM_001382391.1(CSPP1):c.496A>C (p.Arg166=)
|
rs2129545446
|
|
NM_001382391.1(CSPP1):c.532C>T (p.Leu178=)
|
rs2129545457
|
|
NM_001382391.1(CSPP1):c.549G>A (p.Gln183=)
|
|
|
NM_001382391.1(CSPP1):c.579A>G (p.Arg193=)
|
|
|
NM_001382391.1(CSPP1):c.633A>G (p.Arg211=)
|
|
|
NM_001382391.1(CSPP1):c.63A>C (p.Ala21=)
|
|
|
NM_001382391.1(CSPP1):c.672C>T (p.Ile224=)
|
|
|
NM_001382391.1(CSPP1):c.741A>G (p.Gln247=)
|
|
|
NM_001382391.1(CSPP1):c.750A>G (p.Ala250=)
|
|
|
NM_001382391.1(CSPP1):c.768A>G (p.Pro256=)
|
|
|
NM_001382391.1(CSPP1):c.789T>C (p.Phe263=)
|
rs2129545515
|
|
NM_001382391.1(CSPP1):c.816G>A (p.Arg272=)
|
|
|
NM_001382391.1(CSPP1):c.816G>T (p.Arg272=)
|
|
|
NM_001382391.1(CSPP1):c.81A>T (p.Pro27=)
|
rs1271272185
|
|
NM_001382391.1(CSPP1):c.876T>C (p.Tyr292=)
|
rs2129545545
|
|
NM_001382391.1(CSPP1):c.903G>A (p.Ser301=)
|
|
|
NM_001382391.1(CSPP1):c.923+25_923+29del
|
rs2129545562
|
|
NM_001382391.1(CSPP1):c.930C>T (p.His310=)
|
|
|