NM_013352.4(DSE):c.1926T>C (p.Asn642=)
|
rs560644
|
0.95438
|
NM_013352.4(DSE):c.74C>T (p.Thr25Ile)
|
rs10485183
|
0.23388
|
NM_013352.4(DSE):c.1142T>C (p.Val381Ala)
|
rs41313440
|
0.05356
|
NM_013352.4(DSE):c.1926= (p.Asn642=)
|
rs560644
|
0.04562
|
NM_013352.4(DSE):c.101C>T (p.Pro34Leu)
|
rs35548455
|
0.04141
|
NM_013352.4(DSE):c.53G>T (p.Cys18Phe)
|
rs76186865
|
0.03160
|
NM_013352.4(DSE):c.844A>G (p.Ile282Val)
|
rs34994230
|
0.02817
|
NM_013352.4(DSE):c.1118+15G>A
|
rs116330739
|
0.01381
|
NM_013352.4(DSE):c.114C>T (p.Ala38=)
|
rs36061922
|
0.00553
|
NM_013352.4(DSE):c.711G>C (p.Leu237=)
|
rs140034597
|
0.00484
|
NM_013352.4(DSE):c.209G>A (p.Arg70His)
|
rs147683614
|
0.00278
|
NM_130468.4(CHST14):c.288G>A (p.Arg96=)
|
rs371684007
|
0.00195
|
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln)
|
rs35363262
|
0.00180
|
NM_013352.4(DSE):c.216G>A (p.Thr72=)
|
rs61747210
|
0.00164
|
NM_013352.4(DSE):c.2120C>G (p.Ser707Cys)
|
rs140975523
|
0.00153
|
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln)
|
rs61741781
|
0.00116
|
NM_130468.4(CHST14):c.210C>T (p.Pro70=)
|
rs191997027
|
0.00111
|
NM_130468.4(CHST14):c.807T>C (p.Asp269=)
|
rs139229738
|
0.00104
|
NM_013352.4(DSE):c.2687T>G (p.Leu896Arg)
|
rs149649831
|
0.00052
|
NM_013352.4(DSE):c.1173G>A (p.Leu391=)
|
rs146663575
|
0.00051
|
NM_013352.4(DSE):c.1653G>A (p.Leu551=)
|
rs147124340
|
0.00051
|
NM_130468.4(CHST14):c.635T>C (p.Val212Ala)
|
rs144629123
|
0.00046
|
NM_013352.4(DSE):c.1004G>A (p.Arg335His)
|
rs371480627
|
0.00029
|
NM_013352.4(DSE):c.35T>A (p.Phe12Tyr)
|
rs142885560
|
0.00024
|
NM_130468.4(CHST14):c.993C>A (p.Ala331=)
|
rs138273557
|
0.00022
|
NM_013352.4(DSE):c.2129C>T (p.Ala710Val)
|
rs533772643
|
0.00021
|
NM_013352.4(DSE):c.2761A>G (p.Thr921Ala)
|
rs143226402
|
0.00021
|
NM_013352.4(DSE):c.450G>A (p.Pro150=)
|
rs773416085
|
0.00019
|
NM_130468.4(CHST14):c.20C>A (p.Thr7Asn)
|
rs766643057
|
0.00019
|
NM_130468.4(CHST14):c.471G>A (p.Val157=)
|
rs200761477
|
0.00018
|
NM_013352.4(DSE):c.2727T>C (p.Ile909=)
|
rs199742443
|
0.00017
|
NM_013352.4(DSE):c.1221T>A (p.Pro407=)
|
rs140103226
|
0.00016
|
NM_013352.4(DSE):c.910+20G>A
|
rs376761852
|
0.00015
|
NM_013352.4(DSE):c.240C>T (p.Ser80=)
|
rs143347973
|
0.00014
|
NM_130468.4(CHST14):c.765C>T (p.Gly255=)
|
rs148053059
|
0.00014
|
NM_130468.4(CHST14):c.398A>C (p.Gln133Pro)
|
rs866817984
|
0.00013
|
NM_130468.4(CHST14):c.796T>C (p.Tyr266His)
|
rs377155775
|
0.00013
|
NM_013352.4(DSE):c.1383T>A (p.Ala461=)
|
rs200485959
|
0.00011
|
NM_013352.4(DSE):c.2168G>A (p.Arg723Gln)
|
rs371043332
|
0.00011
|
NM_013352.4(DSE):c.2842T>C (p.Trp948Arg)
|
rs146336077
|
0.00011
|
NM_013352.4(DSE):c.516A>G (p.Thr172=)
|
rs200780195
|
0.00011
|
NM_013352.4(DSE):c.645G>A (p.Thr215=)
|
rs370613241
|
0.00011
|
NM_130468.4(CHST14):c.1036G>C (p.Ala346Pro)
|
rs762133798
|
0.00010
|
NM_130468.4(CHST14):c.58C>T (p.Arg20Trp)
|
rs577809616
|
0.00010
|
NM_013352.4(DSE):c.2005A>G (p.Ile669Val)
|
rs145999978
|
0.00009
|
NM_013352.4(DSE):c.2601C>T (p.Tyr867=)
|
rs535021192
|
0.00009
|
NM_013352.4(DSE):c.2663C>G (p.Thr888Ser)
|
rs376771433
|
0.00009
|
NM_013352.4(DSE):c.359T>C (p.Ile120Thr)
|
rs147451395
|
0.00009
|
NM_130468.4(CHST14):c.32C>T (p.Ala11Val)
|
rs1030815676
|
0.00009
|
NM_013352.4(DSE):c.1381G>A (p.Ala461Thr)
|
rs181711422
|
0.00008
|
NM_013352.4(DSE):c.1860C>T (p.Asp620=)
|
rs376227527
|
0.00008
|
NM_130468.4(CHST14):c.151G>C (p.Val51Leu)
|
rs199749498
|
0.00008
|
NM_013352.4(DSE):c.1005T>A (p.Arg335=)
|
rs375802351
|
0.00007
|
NM_013352.4(DSE):c.1222G>A (p.Ala408Thr)
|
rs150311697
|
0.00007
|
NM_013352.4(DSE):c.1419C>T (p.Tyr473=)
|
rs374010235
|
0.00006
|
NM_013352.4(DSE):c.208C>T (p.Arg70Cys)
|
rs375337613
|
0.00006
|
NM_013352.4(DSE):c.2752A>G (p.Met918Val)
|
rs780791978
|
0.00006
|
NM_013352.4(DSE):c.600A>G (p.Gln200=)
|
rs150006874
|
0.00006
|
NM_130468.4(CHST14):c.447C>T (p.Phe149=)
|
rs761965484
|
0.00006
|
NM_130468.4(CHST14):c.567G>A (p.Val189=)
|
rs758319940
|
0.00006
|
NM_013352.4(DSE):c.2429G>A (p.Arg810Gln)
|
rs367959320
|
0.00005
|
NM_130468.4(CHST14):c.1119G>A (p.Ala373=)
|
rs149555952
|
0.00005
|
NM_013352.4(DSE):c.120C>T (p.Tyr40=)
|
rs75392879
|
0.00004
|
NM_013352.4(DSE):c.1737C>T (p.Pro579=)
|
rs765462761
|
0.00004
|
NM_013352.4(DSE):c.215C>T (p.Thr72Met)
|
rs201564300
|
0.00004
|
NM_013352.4(DSE):c.2242C>T (p.His748Tyr)
|
rs770096528
|
0.00004
|
NM_013352.4(DSE):c.2344G>T (p.Asp782Tyr)
|
rs140764351
|
0.00004
|
NM_013352.4(DSE):c.2729C>G (p.Ala910Gly)
|
rs377694163
|
0.00004
|
NM_013352.4(DSE):c.730C>T (p.Leu244=)
|
rs1041865456
|
0.00004
|
NM_013352.4(DSE):c.95T>C (p.Met32Thr)
|
rs140765634
|
0.00004
|
NM_130468.4(CHST14):c.111G>C (p.Pro37=)
|
rs746603977
|
0.00004
|
NM_130468.4(CHST14):c.11G>C (p.Arg4Pro)
|
rs1352733612
|
0.00004
|
NM_130468.4(CHST14):c.283C>T (p.Leu95Phe)
|
rs755535418
|
0.00004
|
NM_130468.4(CHST14):c.315G>A (p.Arg105=)
|
rs903042632
|
0.00004
|
NM_130468.4(CHST14):c.400C>T (p.Arg134Trp)
|
rs368203130
|
0.00004
|
NM_130468.4(CHST14):c.869C>T (p.Ala290Val)
|
rs763074027
|
0.00004
|
NM_130468.4(CHST14):c.891C>G (p.Gly297=)
|
rs772809123
|
0.00004
|
NM_130468.4(CHST14):c.933G>C (p.Glu311Asp)
|
rs927457735
|
0.00004
|
NM_013352.4(DSE):c.1140G>A (p.Ser380=)
|
rs756171586
|
0.00003
|
NM_013352.4(DSE):c.136C>T (p.Leu46=)
|
rs754023509
|
0.00003
|
NM_013352.4(DSE):c.753G>A (p.Thr251=)
|
rs769250716
|
0.00003
|
NM_130468.4(CHST14):c.239G>A (p.Gly80Asp)
|
rs371189136
|
0.00003
|
NM_130468.4(CHST14):c.743G>C (p.Gly248Ala)
|
rs778069410
|
0.00003
|
NM_130468.4(CHST14):c.77C>T (p.Pro26Leu)
|
rs1321331803
|
0.00003
|
NM_013352.4(DSE):c.121G>A (p.Asp41Asn)
|
rs754763310
|
0.00002
|
NM_013352.4(DSE):c.189G>A (p.Ser63=)
|
rs953029145
|
0.00002
|
NM_013352.4(DSE):c.2184G>A (p.Lys728=)
|
rs150939596
|
0.00002
|
NM_013352.4(DSE):c.2428C>G (p.Arg810Gly)
|
rs199731077
|
0.00002
|
NM_013352.4(DSE):c.2661A>G (p.Thr887=)
|
rs762839207
|
0.00002
|
NM_013352.4(DSE):c.2850C>T (p.Tyr950=)
|
rs751986225
|
0.00002
|
NM_013352.4(DSE):c.780G>A (p.Ala260=)
|
rs765697282
|
0.00002
|
NM_130468.4(CHST14):c.138G>C (p.Met46Ile)
|
rs1466102278
|
0.00002
|
NM_130468.4(CHST14):c.143C>T (p.Ala48Val)
|
rs780919131
|
0.00002
|
NM_130468.4(CHST14):c.173T>C (p.Leu58Pro)
|
rs749135787
|
0.00002
|
NM_130468.4(CHST14):c.196G>A (p.Ala66Thr)
|
rs1394541294
|
0.00002
|
NM_130468.4(CHST14):c.250C>A (p.Arg84Ser)
|
rs561964206
|
0.00002
|
NM_130468.4(CHST14):c.252C>T (p.Arg84=)
|
rs1377145039
|
0.00002
|
NM_130468.4(CHST14):c.293G>A (p.Gly98Glu)
|
rs770839880
|
0.00002
|
NM_130468.4(CHST14):c.501G>C (p.Lys167Asn)
|
rs763410236
|
0.00002
|
NM_130468.4(CHST14):c.592G>A (p.Glu198Lys)
|
rs781430388
|
0.00002
|
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)
|
rs1247205097
|
0.00002
|
NM_130468.4(CHST14):c.861G>A (p.Gln287=)
|
rs772452727
|
0.00002
|
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln)
|
rs556002453
|
0.00002
|
NM_013352.4(DSE):c.1192G>A (p.Gly398Ser)
|
rs775032838
|
0.00001
|
NM_013352.4(DSE):c.1225G>A (p.Glu409Lys)
|
rs767730463
|
0.00001
|
NM_013352.4(DSE):c.1273C>T (p.Arg425Cys)
|
rs746187739
|
0.00001
|
NM_013352.4(DSE):c.1278A>G (p.Ala426=)
|
rs1253141581
|
0.00001
|
NM_013352.4(DSE):c.1437C>T (p.Phe479=)
|
rs757356537
|
0.00001
|
NM_013352.4(DSE):c.1491C>T (p.Pro497=)
|
rs768130032
|
0.00001
|
NM_013352.4(DSE):c.1512A>G (p.Glu504=)
|
rs200018749
|
0.00001
|
NM_013352.4(DSE):c.1609A>T (p.Ile537Phe)
|
rs1213902929
|
0.00001
|
NM_013352.4(DSE):c.1736C>T (p.Pro579Leu)
|
rs762084403
|
0.00001
|
NM_013352.4(DSE):c.17G>A (p.Arg6Gln)
|
rs758271302
|
0.00001
|
NM_013352.4(DSE):c.1909C>T (p.Arg637Trp)
|
rs763787753
|
0.00001
|
NM_013352.4(DSE):c.2054T>C (p.Val685Ala)
|
rs749911499
|
0.00001
|
NM_013352.4(DSE):c.2147G>A (p.Arg716His)
|
rs549153887
|
0.00001
|
NM_013352.4(DSE):c.2186G>A (p.Ser729Asn)
|
rs779169990
|
0.00001
|
NM_013352.4(DSE):c.2221A>G (p.Ile741Val)
|
rs780336360
|
0.00001
|
NM_013352.4(DSE):c.2326C>T (p.Arg776Cys)
|
rs752624508
|
0.00001
|
NM_013352.4(DSE):c.2334G>T (p.Leu778=)
|
rs534248134
|
0.00001
|
NM_013352.4(DSE):c.2386A>G (p.Ile796Val)
|
rs774012350
|
0.00001
|
NM_013352.4(DSE):c.243C>T (p.Ser81=)
|
rs780478969
|
0.00001
|
NM_013352.4(DSE):c.2580A>G (p.Leu860=)
|
rs1361177296
|
0.00001
|
NM_013352.4(DSE):c.2724C>T (p.Asn908=)
|
rs750711471
|
0.00001
|
NM_013352.4(DSE):c.2766T>C (p.Tyr922=)
|
rs148311424
|
0.00001
|
NM_013352.4(DSE):c.404C>T (p.Ala135Val)
|
rs370430595
|
0.00001
|
NM_013352.4(DSE):c.416+13C>T
|
rs765373035
|
0.00001
|
NM_013352.4(DSE):c.495G>T (p.Leu165Phe)
|
rs1057524129
|
0.00001
|
NM_013352.4(DSE):c.670+12C>T
|
rs190922886
|
0.00001
|
NM_013352.4(DSE):c.75C>T (p.Thr25=)
|
rs752936676
|
0.00001
|
NM_013352.4(DSE):c.864G>A (p.Pro288=)
|
rs780424278
|
0.00001
|
NM_013352.4(DSE):c.885A>C (p.Ala295=)
|
rs1444681997
|
0.00001
|
NM_013352.4(DSE):c.911-15A>G
|
rs1232495093
|
0.00001
|
NM_130468.4(CHST14):c.1010A>G (p.His337Arg)
|
rs772159874
|
0.00001
|
NM_130468.4(CHST14):c.158C>A (p.Ser53Tyr)
|
rs896003662
|
0.00001
|
NM_130468.4(CHST14):c.171del (p.Leu58fs)
|
rs1256212335
|
0.00001
|
NM_130468.4(CHST14):c.180C>T (p.Ile60=)
|
rs938393246
|
0.00001
|
NM_130468.4(CHST14):c.189C>T (p.Gly63=)
|
rs1398111943
|
0.00001
|
NM_130468.4(CHST14):c.198C>G (p.Ala66=)
|
rs1014902072
|
0.00001
|
NM_130468.4(CHST14):c.217C>T (p.Leu73=)
|
rs1482604204
|
0.00001
|
NM_130468.4(CHST14):c.297C>T (p.Asp99=)
|
rs1328842726
|
0.00001
|
NM_130468.4(CHST14):c.325C>T (p.Arg109Trp)
|
rs201632751
|
0.00001
|
NM_130468.4(CHST14):c.378C>G (p.Pro126=)
|
rs752221539
|
0.00001
|
NM_130468.4(CHST14):c.401G>A (p.Arg134Gln)
|
rs1484119071
|
0.00001
|
NM_130468.4(CHST14):c.439T>C (p.Tyr147His)
|
rs775350610
|
0.00001
|
NM_130468.4(CHST14):c.45C>G (p.Ala15=)
|
rs1566969002
|
0.00001
|
NM_130468.4(CHST14):c.467A>G (p.Lys156Arg)
|
rs1017593366
|
0.00001
|
NM_130468.4(CHST14):c.548A>G (p.Asp183Gly)
|
rs1595869476
|
0.00001
|
NM_130468.4(CHST14):c.580C>T (p.Leu194=)
|
rs1310579126
|
0.00001
|
NM_130468.4(CHST14):c.582G>A (p.Leu194=)
|
rs1377861803
|
0.00001
|
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro)
|
rs121908257
|
0.00001
|
NM_130468.4(CHST14):c.642G>A (p.Glu214=)
|
rs146662235
|
0.00001
|
NM_130468.4(CHST14):c.685G>A (p.Glu229Lys)
|
rs370299419
|
0.00001
|
NM_130468.4(CHST14):c.687G>C (p.Glu229Asp)
|
rs766320306
|
0.00001
|
NM_130468.4(CHST14):c.732G>C (p.Arg244=)
|
rs1208945086
|
0.00001
|
NM_130468.4(CHST14):c.801G>C (p.Leu267=)
|
rs998708059
|
0.00001
|
NM_130468.4(CHST14):c.822C>G (p.Arg274=)
|
rs111456654
|
0.00001
|
NM_130468.4(CHST14):c.843C>T (p.Pro281=)
|
rs778120798
|
0.00001
|
NM_130468.4(CHST14):c.871G>A (p.Val291Met)
|
rs369563820
|
0.00001
|
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys)
|
rs121908258
|
0.00001
|
NM_130468.4(CHST14):c.8C>T (p.Pro3Leu)
|
rs1389417786
|
0.00001
|
NM_130468.4(CHST14):c.919A>G (p.Asn307Asp)
|
rs767533841
|
0.00001
|
NM_130468.4(CHST14):c.922C>A (p.Gln308Lys)
|
rs373443856
|
0.00001
|
NM_130468.4(CHST14):c.958C>T (p.Arg320Ter)
|
rs1555410784
|
0.00001
|
NM_130468.4(CHST14):c.978C>T (p.Ala326=)
|
rs576061822
|
0.00001
|
NM_130468.4(CHST14):c.99G>A (p.Gly33=)
|
rs545629118
|
0.00001
|
NC_000015.9:g.(?_40763403)_(40764553_?)dup
|
|
|
NC_000015.9:g.(?_40763413)_(40764543_?)dup
|
|
|
NM_013352.4(DSE):c.101C>G (p.Pro34Arg)
|
rs35548455
|
|
NM_013352.4(DSE):c.102C>T (p.Pro34=)
|
|
|
NM_013352.4(DSE):c.1073C>G (p.Pro358Arg)
|
|
|
NM_013352.4(DSE):c.110A>G (p.Asn37Ser)
|
rs371802983
|
|
NM_013352.4(DSE):c.110A>T (p.Asn37Ile)
|
rs371802983
|
|
NM_013352.4(DSE):c.1170A>G (p.Thr390=)
|
|
|
NM_013352.4(DSE):c.1173_1174delinsAT (p.His392Tyr)
|
rs2115093579
|
|
NM_013352.4(DSE):c.1197C>T (p.Val399=)
|
|
|
NM_013352.4(DSE):c.1237T>C (p.Ser413Pro)
|
|
|
NM_013352.4(DSE):c.1243C>G (p.Leu415Val)
|
|
|
NM_013352.4(DSE):c.1284T>C (p.Tyr428=)
|
rs1583235798
|
|
NM_013352.4(DSE):c.1293C>A (p.Val431=)
|
|
|
NM_013352.4(DSE):c.1323A>G (p.Lys441=)
|
|
|
NM_013352.4(DSE):c.1334A>G (p.Asn445Ser)
|
rs1423707879
|
|
NM_013352.4(DSE):c.1360G>A (p.Asp454Asn)
|
rs2115094114
|
|
NM_013352.4(DSE):c.1388A>G (p.Asn463Ser)
|
|
|
NM_013352.4(DSE):c.1407T>C (p.Thr469=)
|
|
|
NM_013352.4(DSE):c.1416G>T (p.Leu472=)
|
|
|
NM_013352.4(DSE):c.1420G>C (p.Gly474Arg)
|
|
|
NM_013352.4(DSE):c.1421G>C (p.Gly474Ala)
|
|
|
NM_013352.4(DSE):c.1435T>G (p.Phe479Val)
|
|
|
NM_013352.4(DSE):c.1437C>G (p.Phe479Leu)
|
rs757356537
|
|
NM_013352.4(DSE):c.144C>T (p.Phe48=)
|
|
|
NM_013352.4(DSE):c.1488_1506del (p.Pro497fs)
|
rs2115094515
|
|
NM_013352.4(DSE):c.1536A>C (p.Lys512Asn)
|
rs2115094625
|
|
NM_013352.4(DSE):c.1608C>T (p.Phe536=)
|
|
|
NM_013352.4(DSE):c.1612C>G (p.Arg538Gly)
|
|
|
NM_013352.4(DSE):c.1614A>T (p.Arg538=)
|
|
|
NM_013352.4(DSE):c.1620A>G (p.Glu540=)
|
|
|
NM_013352.4(DSE):c.1635T>C (p.Tyr545=)
|
|
|
NM_013352.4(DSE):c.1643A>T (p.Gln548Leu)
|
rs2115094990
|
|
NM_013352.4(DSE):c.1658A>G (p.Asn553Ser)
|
|
|
NM_013352.4(DSE):c.1673_1674del (p.Leu558fs)
|
rs2115095071
|
|
NM_013352.4(DSE):c.1686T>A (p.His562Gln)
|
rs2115095121
|
|
NM_013352.4(DSE):c.16C>A (p.Arg6=)
|
|
|
NM_013352.4(DSE):c.16C>T (p.Arg6Trp)
|
|
|
NM_013352.4(DSE):c.171G>T (p.Gln57His)
|
|
|
NM_013352.4(DSE):c.1735C>T (p.Pro579Ser)
|
|
|
NM_013352.4(DSE):c.1751C>T (p.Ala584Val)
|
|
|
NM_013352.4(DSE):c.1752G>A (p.Ala584=)
|
|
|
NM_013352.4(DSE):c.1752G>C (p.Ala584=)
|
rs561665809
|
|
NM_013352.4(DSE):c.1809T>C (p.His603=)
|
|
|
NM_013352.4(DSE):c.182C>A (p.Ala61Asp)
|
rs2114995025
|
|
NM_013352.4(DSE):c.1832A>G (p.Asp611Gly)
|
|
|
NM_013352.4(DSE):c.1834G>A (p.Gly612Ser)
|
|
|
NM_013352.4(DSE):c.1897G>A (p.Val633Met)
|
rs550208733
|
|
NM_013352.4(DSE):c.1911G>C (p.Arg637=)
|
rs2115096083
|
|
NM_013352.4(DSE):c.1916A>T (p.Tyr639Phe)
|
rs1784155007
|
|
NM_013352.4(DSE):c.1926_1927inv (p.Gly643Arg)
|
|
|
NM_013352.4(DSE):c.192C>T (p.His64=)
|
|
|
NM_013352.4(DSE):c.1938T>C (p.Tyr646=)
|
|
|
NM_013352.4(DSE):c.2016G>A (p.Gln672=)
|
|
|
NM_013352.4(DSE):c.201T>A (p.Ile67=)
|
|
|
NM_013352.4(DSE):c.2031C>T (p.His677=)
|
|
|
NM_013352.4(DSE):c.2032G>A (p.Gly678Arg)
|
|
|
NM_013352.4(DSE):c.2063C>T (p.Ala688Val)
|
rs143443243
|
|
NM_013352.4(DSE):c.2072A>G (p.Lys691Arg)
|
|
|
NM_013352.4(DSE):c.2133G>A (p.Gln711=)
|
|
|
NM_013352.4(DSE):c.2146C>A (p.Arg716Ser)
|
rs762120249
|
|
NM_013352.4(DSE):c.2146C>G (p.Arg716Gly)
|
|
|
NM_013352.4(DSE):c.2146C>T (p.Arg716Cys)
|
rs762120249
|
|
NM_013352.4(DSE):c.2196C>A (p.Val732=)
|
|
|
NM_013352.4(DSE):c.21G>C (p.Gly7=)
|
|
|
NM_013352.4(DSE):c.2213A>G (p.Tyr738Cys)
|
|
|
NM_013352.4(DSE):c.2239C>T (p.Gln747Ter)
|
rs1784181791
|
|
NM_013352.4(DSE):c.2288G>A (p.Arg763Gln)
|
|
|
NM_013352.4(DSE):c.2294G>A (p.Arg765Gln)
|
|
|
NM_013352.4(DSE):c.2302G>C (p.Ala768Pro)
|
|
|
NM_013352.4(DSE):c.230C>T (p.Thr77Met)
|
|
|
NM_013352.4(DSE):c.2358T>C (p.Thr786=)
|
rs781704477
|
|
NM_013352.4(DSE):c.237G>A (p.Leu79=)
|
|
|
NM_013352.4(DSE):c.2401C>T (p.Gln801Ter)
|
|
|
NM_013352.4(DSE):c.2443C>T (p.Arg815Cys)
|
rs760979521
|
|
NM_013352.4(DSE):c.2465T>C (p.Val822Ala)
|
rs778282572
|
|
NM_013352.4(DSE):c.2500A>G (p.Lys834Glu)
|
|
|
NM_013352.4(DSE):c.2511A>T (p.Arg837Ser)
|
|
|
NM_013352.4(DSE):c.2542C>G (p.Leu848Val)
|
|
|
NM_013352.4(DSE):c.2546C>A (p.Pro849His)
|
|
|
NM_013352.4(DSE):c.2582A>G (p.Asp861Gly)
|
rs2115099078
|
|
NM_013352.4(DSE):c.2602G>A (p.Glu868Lys)
|
|
|
NM_013352.4(DSE):c.2619G>A (p.Gly873=)
|
|
|
NM_013352.4(DSE):c.2619_2621del (p.Gly874del)
|
rs111252008
|
|
NM_013352.4(DSE):c.2622C>T (p.Gly874=)
|
|
|
NM_013352.4(DSE):c.2635C>G (p.Arg879Gly)
|
rs113277624
|
|
NM_013352.4(DSE):c.2635C>T (p.Arg879Trp)
|
rs113277624
|
|
NM_013352.4(DSE):c.2637G>A (p.Arg879=)
|
|
|
NM_013352.4(DSE):c.2641G>A (p.Gly881Arg)
|
|
|
NM_013352.4(DSE):c.2646G>A (p.Gln882=)
|
rs2115099368
|
|
NM_013352.4(DSE):c.264C>G (p.Pro88=)
|
|
|
NM_013352.4(DSE):c.2650C>T (p.Arg884Trp)
|
|
|
NM_013352.4(DSE):c.2675G>C (p.Arg892Thr)
|
|
|
NM_013352.4(DSE):c.2693C>G (p.Ala898Gly)
|
|
|
NM_013352.4(DSE):c.277G>A (p.Asp93Asn)
|
rs2114995361
|
|
NM_013352.4(DSE):c.2799del (p.Arg933fs)
|
rs1339083714
|
|
NM_013352.4(DSE):c.27C>A (p.Pro9=)
|
|
|
NM_013352.4(DSE):c.2812G>T (p.Val938Phe)
|
|
|
NM_013352.4(DSE):c.2838A>G (p.Leu946=)
|
|
|
NM_013352.4(DSE):c.2843G>A (p.Trp948Ter)
|
|
|
NM_013352.4(DSE):c.325T>G (p.Leu109Val)
|
rs1781471216
|
|
NM_013352.4(DSE):c.331A>G (p.Met111Val)
|
rs866132678
|
|
NM_013352.4(DSE):c.33G>A (p.Val11=)
|
|
|
NM_013352.4(DSE):c.340G>T (p.Val114Leu)
|
|
|
NM_013352.4(DSE):c.34T>A (p.Phe12Ile)
|
|
|
NM_013352.4(DSE):c.355A>C (p.Asn119His)
|
rs1583172956
|
|
NM_013352.4(DSE):c.357C>T (p.Asn119=)
|
|
|
NM_013352.4(DSE):c.364G>A (p.Ala122Thr)
|
rs1781474657
|
|
NM_013352.4(DSE):c.420G>C (p.Leu140Phe)
|
|
|
NM_013352.4(DSE):c.447C>T (p.Val149=)
|
|
|
NM_013352.4(DSE):c.480del (p.Ala161fs)
|
|
|
NM_013352.4(DSE):c.53G>A (p.Cys18Tyr)
|
rs76186865
|
|
NM_013352.4(DSE):c.59T>G (p.Val20Gly)
|
|
|
NM_013352.4(DSE):c.5G>A (p.Arg2Lys)
|
|
|
NM_013352.4(DSE):c.611A>G (p.Asn204Ser)
|
rs2115065124
|
|
NM_013352.4(DSE):c.647G>T (p.Gly216Val)
|
|
|
NM_013352.4(DSE):c.670+18C>T
|
|
|
NM_013352.4(DSE):c.670+20A>G
|
|
|
NM_013352.4(DSE):c.681A>G (p.Gln227=)
|
|
|
NM_013352.4(DSE):c.69C>T (p.Tyr23=)
|
|
|
NM_013352.4(DSE):c.701A>G (p.Lys234Arg)
|
|
|
NM_013352.4(DSE):c.714C>T (p.Thr238=)
|
|
|
NM_013352.4(DSE):c.718A>G (p.Met240Val)
|
|
|
NM_013352.4(DSE):c.780G>T (p.Ala260=)
|
|
|
NM_013352.4(DSE):c.78C>A (p.Asp26Glu)
|
|
|
NM_013352.4(DSE):c.78C>T (p.Asp26=)
|
rs146524076
|
|
NM_013352.4(DSE):c.807C>T (p.Leu269=)
|
|
|
NM_013352.4(DSE):c.826G>A (p.Val276Ile)
|
|
|
NM_013352.4(DSE):c.863C>T (p.Pro288Leu)
|
|
|
NM_013352.4(DSE):c.8C>A (p.Thr3Asn)
|
rs1164317142
|
|
NM_013352.4(DSE):c.910+10G>A
|
|
|
NM_013352.4(DSE):c.910+8G>A
|
|
|
NM_013352.4(DSE):c.910+9A>C
|
|
|
NM_013352.4(DSE):c.945T>C (p.Asn315=)
|
|
|
NM_013352.4(DSE):c.966A>G (p.Pro322=)
|
|
|
NM_013352.4(DSE):c.975A>G (p.Gln325=)
|
|
|
NM_013352.4(DSE):c.981G>A (p.Val327=)
|
rs951430479
|
|
NM_130468.4(CHST14):c.1004G>T (p.Ser335Ile)
|
|
|
NM_130468.4(CHST14):c.1016A>G (p.His339Arg)
|
|
|
NM_130468.4(CHST14):c.1033C>T (p.Arg345Trp)
|
rs372422727
|
|
NM_130468.4(CHST14):c.1033del (p.Arg345fs)
|
|
|
NM_130468.4(CHST14):c.1038C>T (p.Ala346=)
|
|
|
NM_130468.4(CHST14):c.104G>C (p.Gly35Ala)
|
|
|
NM_130468.4(CHST14):c.1062G>A (p.Lys354=)
|
|
|
NM_130468.4(CHST14):c.1081C>G (p.Leu361Val)
|
rs1566969372
|
|
NM_130468.4(CHST14):c.1086T>C (p.Phe362=)
|
rs2141571343
|
|
NM_130468.4(CHST14):c.1101T>C (p.Pro367=)
|
rs1189242847
|
|
NM_130468.4(CHST14):c.1104T>C (p.Asn368=)
|
rs1351942431
|
|
NM_130468.4(CHST14):c.1117G>T (p.Ala373Ser)
|
rs748434505
|
|
NM_130468.4(CHST14):c.111G>T (p.Pro37=)
|
|
|
NM_130468.4(CHST14):c.114C>G (p.Pro38=)
|
rs2141570382
|
|
NM_130468.4(CHST14):c.117G>A (p.Leu39=)
|
rs2141570389
|
|
NM_130468.4(CHST14):c.130A>G (p.Met44Val)
|
rs1043447552
|
|
NM_130468.4(CHST14):c.135G>C (p.Leu45=)
|
|
|
NM_130468.4(CHST14):c.148A>T (p.Ile50Phe)
|
rs1046833753
|
|
NM_130468.4(CHST14):c.151G>A (p.Val51Met)
|
rs199749498
|
|
NM_130468.4(CHST14):c.155C>T (p.Ala52Val)
|
|
|
NM_130468.4(CHST14):c.156_166del (p.Ser53fs)
|
rs1293915082
|
|
NM_130468.4(CHST14):c.160dup (p.Ser54fs)
|
rs1566969054
|
|
NM_130468.4(CHST14):c.18G>T (p.Leu6=)
|
|
|
NM_130468.4(CHST14):c.202A>G (p.Met68Val)
|
|
|
NM_130468.4(CHST14):c.216C>T (p.Pro72=)
|
|
|
NM_130468.4(CHST14):c.228C>A (p.Pro76=)
|
|
|
NM_130468.4(CHST14):c.234C>G (p.Arg78=)
|
|
|
NM_130468.4(CHST14):c.245C>G (p.Ala82Gly)
|
rs1475453618
|
|
NM_130468.4(CHST14):c.255G>A (p.Gly85=)
|
rs2141570543
|
|
NM_130468.4(CHST14):c.264del (p.Lys89fs)
|
|
|
NM_130468.4(CHST14):c.275G>T (p.Gly92Val)
|
rs754720949
|
|
NM_130468.4(CHST14):c.295G>A (p.Asp99Asn)
|
rs1354036515
|
|
NM_130468.4(CHST14):c.299C>T (p.Ala100Val)
|
|
|
NM_130468.4(CHST14):c.2T>C (p.Met1Thr)
|
|
|
NM_130468.4(CHST14):c.303C>T (p.Asp101=)
|
rs2141570597
|
|
NM_130468.4(CHST14):c.312G>T (p.Val104=)
|
|
|
NM_130468.4(CHST14):c.315G>T (p.Arg105=)
|
|
|
NM_130468.4(CHST14):c.315del (p.Gln106fs)
|
|
|
NM_130468.4(CHST14):c.336C>G (p.Thr112=)
|
|
|
NM_130468.4(CHST14):c.382G>C (p.Asp128His)
|
|
|
NM_130468.4(CHST14):c.409C>T (p.Leu137=)
|
rs2141570724
|
|
NM_130468.4(CHST14):c.427G>A (p.Val143Ile)
|
|
|
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly)
|
rs1007569346
|
|
NM_130468.4(CHST14):c.43G>C (p.Ala15Pro)
|
rs1235160320
|
|
NM_130468.4(CHST14):c.448C>G (p.Leu150Val)
|
rs2141570771
|
|
NM_130468.4(CHST14):c.462C>T (p.Val154=)
|
rs1478974228
|
|
NM_130468.4(CHST14):c.468G>C (p.Lys156Asn)
|
rs1555410748
|
|
NM_130468.4(CHST14):c.486G>A (p.Trp162Ter)
|
|
|
NM_130468.4(CHST14):c.48G>A (p.Glu16=)
|
|
|
NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser)
|
rs1894350607
|
|
NM_130468.4(CHST14):c.513C>T (p.Gly171=)
|
|
|
NM_130468.4(CHST14):c.516C>T (p.Val172=)
|
|
|
NM_130468.4(CHST14):c.527_530delinsGACAG (p.Val176fs)
|
rs1595869467
|
|
NM_130468.4(CHST14):c.536G>A (p.Arg179His)
|
|
|
NM_130468.4(CHST14):c.536G>C (p.Arg179Pro)
|
rs756707600
|
|
NM_130468.4(CHST14):c.609G>T (p.Leu203=)
|
rs2141570922
|
|
NM_130468.4(CHST14):c.612G>T (p.Gln204His)
|
rs1894353008
|
|
NM_130468.4(CHST14):c.628C>G (p.Leu210Val)
|
rs1894353259
|
|
NM_130468.4(CHST14):c.629T>C (p.Leu210Pro)
|
|
|
NM_130468.4(CHST14):c.642G>C (p.Glu214Asp)
|
rs146662235
|
|
NM_130468.4(CHST14):c.651A>G (p.Glu217=)
|
|
|
NM_130468.4(CHST14):c.65T>C (p.Leu22Pro)
|
|
|
NM_130468.4(CHST14):c.668A>T (p.Tyr223Phe)
|
rs1894354295
|
|
NM_130468.4(CHST14):c.676_682delinsGCTATGGGGCT (p.Lys226fs)
|
|
|
NM_130468.4(CHST14):c.681T>C (p.Phe227=)
|
|
|
NM_130468.4(CHST14):c.686A>G (p.Glu229Gly)
|
rs1043019552
|
|
NM_130468.4(CHST14):c.692G>A (p.Arg231Gln)
|
rs751335857
|
|
NM_130468.4(CHST14):c.693A>T (p.Arg231=)
|
|
|
NM_130468.4(CHST14):c.704A>G (p.Gln235Arg)
|
rs532315121
|
|
NM_130468.4(CHST14):c.714G>C (p.Gly238=)
|
|
|
NM_130468.4(CHST14):c.729G>T (p.Arg243Ser)
|
rs1894355892
|
|
NM_130468.4(CHST14):c.747G>T (p.Ala249=)
|
|
|
NM_130468.4(CHST14):c.750G>T (p.Gly250=)
|
rs1402353708
|
|
NM_130468.4(CHST14):c.755_851del (p.Ser252fs)
|
rs1555410768
|
|
NM_130468.4(CHST14):c.763G>C (p.Gly255Arg)
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rs2141571079
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NM_130468.4(CHST14):c.783del (p.Glu262fs)
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NM_130468.4(CHST14):c.834T>C (p.His278=)
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NM_130468.4(CHST14):c.846G>A (p.Val282=)
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NM_130468.4(CHST14):c.846G>C (p.Val282=)
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rs139191820
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NM_130468.4(CHST14):c.849C>T (p.Tyr283=)
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rs1438289059
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NM_130468.4(CHST14):c.85A>G (p.Arg29Gly)
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NM_130468.4(CHST14):c.90C>A (p.Ala30=)
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NM_130468.4(CHST14):c.935G>T (p.Trp312Leu)
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NM_130468.4(CHST14):c.948A>G (p.Pro316=)
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NM_130468.4(CHST14):c.977C>T (p.Ala326Val)
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rs1234827728
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NM_130468.4(CHST14):c.984C>T (p.Tyr328=)
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rs747403269
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NM_130468.4(CHST14):c.999C>T (p.Pro333=)
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