NM_002334.4(LRP4):c.1623T>C (p.Asp541=)
|
rs10769215
|
0.99630
|
NM_002334.4(LRP4):c.1638A>G (p.Lys546=)
|
rs10838631
|
0.98127
|
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=)
|
rs4935
|
0.62369
|
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=)
|
rs4797
|
0.53290
|
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val)
|
rs6485702
|
0.50674
|
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly)
|
rs2306029
|
0.42236
|
NM_000127.3(EXT1):c.1761G>A (p.Glu587=)
|
rs7837891
|
0.36094
|
NM_031471.6(FERMT3):c.787-10C>A
|
rs11603538
|
0.33480
|
NM_207122.2(EXT2):c.1080-18T>A
|
rs11037882
|
0.26140
|
NM_207122.2(EXT2):c.1807-51T>C
|
rs11037909
|
0.25427
|
NM_207122.2(EXT2):c.1936-41T>C
|
rs3740878
|
0.23855
|
NM_000127.3(EXT1):c.1065C>T (p.Cys355=)
|
rs11546829
|
0.23625
|
NM_000127.3(EXT1):c.1431C>T (p.Pro477=)
|
rs17439693
|
0.17547
|
NM_031471.6(FERMT3):c.1506C>T (p.Leu502=)
|
rs3802933
|
0.17484
|
NM_002334.4(LRP4):c.4905C>T (p.Phe1635=)
|
rs2290883
|
0.12958
|
NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val)
|
rs2306033
|
0.12951
|
NM_031471.6(FERMT3):c.161-16C>G
|
rs78038516
|
0.10980
|
NM_031471.6(FERMT3):c.1449G>A (p.Pro483=)
|
rs3802932
|
0.09305
|
NM_031471.6(FERMT3):c.729C>T (p.Ala243=)
|
rs17851033
|
0.05878
|
NM_031471.6(FERMT3):c.895-4C>T
|
rs59250939
|
0.05738
|
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser)
|
rs7926667
|
0.05542
|
NM_002334.4(LRP4):c.1695G>A (p.Glu565=)
|
rs61741501
|
0.05533
|
NM_002334.4(LRP4):c.813G>A (p.Thr271=)
|
rs879721
|
0.05245
|
NM_002334.4(LRP4):c.129C>G (p.Thr43=)
|
rs61742974
|
0.04439
|
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=)
|
rs56092424
|
0.03763
|
NM_003900.5(SQSTM1):c.1044G>A (p.Pro348=)
|
rs10058037
|
0.03284
|
NM_002334.4(LRP4):c.1501A>C (p.Asn501His)
|
rs72897663
|
0.03190
|
NM_002334.4(LRP4):c.4837+10C>T
|
rs74806847
|
0.02807
|
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=)
|
rs61733844
|
0.02133
|
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His)
|
rs117936904
|
0.01806
|
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp)
|
rs118009068
|
0.01699
|
NM_003900.5(SQSTM1):c.906C>T (p.Gly302=)
|
rs11548642
|
0.01636
|
NM_000127.3(EXT1):c.114A>G (p.Glu38=)
|
rs17506447
|
0.01623
|
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp)
|
rs55793208
|
0.01529
|
NM_207122.2(EXT2):c.124A>G (p.Met42Val)
|
rs4755779
|
0.01478
|
NM_003900.5(SQSTM1):c.955G>A (p.Glu319Lys)
|
rs61748794
|
0.01418
|
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=)
|
rs76744324
|
0.01379
|
NM_207122.2(EXT2):c.264C>T (p.His88=)
|
rs35455466
|
0.01345
|
NM_207122.2(EXT2):c.1761G>A (p.Thr587=)
|
rs16937864
|
0.01303
|
NM_002334.4(LRP4):c.431-12G>A
|
rs139371503
|
0.01289
|
NM_207122.2(EXT2):c.999T>C (p.Asp333=)
|
rs61733300
|
0.01271
|
NM_207122.2(EXT2):c.1174-18G>T
|
rs143595300
|
0.01161
|
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys)
|
rs140226523
|
0.00943
|
NM_002334.4(LRP4):c.5010G>A (p.Val1670=)
|
rs111426027
|
0.00936
|
NM_207122.2(EXT2):c.1017T>C (p.Cys339=)
|
rs11828047
|
0.00930
|
NM_031471.6(FERMT3):c.405C>T (p.His135=)
|
rs78810429
|
0.00926
|
NM_031471.6(FERMT3):c.1030-12G>C
|
rs77762249
|
0.00871
|
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg)
|
rs61744209
|
0.00677
|
NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg)
|
rs149000560
|
0.00578
|
NM_000127.3(EXT1):c.117A>G (p.Glu39=)
|
rs78429222
|
0.00558
|
NM_207122.2(EXT2):c.1110G>T (p.Met370Ile)
|
rs34084767
|
0.00538
|
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=)
|
rs767340839
|
0.00487
|
NM_002334.4(LRP4):c.300G>A (p.Ser100=)
|
rs61745166
|
0.00459
|
NM_000127.3(EXT1):c.1959G>A (p.Glu653=)
|
rs142710059
|
0.00404
|
NM_031471.6(FERMT3):c.1917G>A (p.Thr639=)
|
rs150686744
|
0.00396
|
NM_031471.6(FERMT3):c.684-5C>G
|
rs112945490
|
0.00390
|
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=)
|
rs61746928
|
0.00385
|
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)
|
rs146164139
|
0.00374
|
NM_207122.2(EXT2):c.*56G>A
|
rs77554103
|
0.00371
|
NM_002334.4(LRP4):c.2151C>T (p.Gly717=)
|
rs114920029
|
0.00361
|
NM_002334.4(LRP4):c.2506+18G>A
|
rs148998354
|
0.00327
|
NM_002334.4(LRP4):c.1828C>T (p.Arg610Cys)
|
rs150253578
|
0.00314
|
NM_002334.4(LRP4):c.1551T>C (p.Ala517=)
|
rs150777198
|
0.00307
|
NM_003900.5(SQSTM1):c.755-90dup
|
rs145727617
|
0.00280
|
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys)
|
rs61748876
|
0.00246
|
NM_031471.6(FERMT3):c.249C>T (p.Tyr83=)
|
rs137865691
|
0.00245
|
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr)
|
rs150869428
|
0.00235
|
NM_002334.4(LRP4):c.1191T>C (p.Asn397=)
|
rs73458078
|
0.00233
|
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=)
|
rs141436407
|
0.00230
|
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu)
|
rs11548633
|
0.00229
|
NM_031471.6(FERMT3):c.159C>G (p.Ile53Met)
|
rs142815441
|
0.00225
|
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)
|
rs143956614
|
0.00222
|
NM_002334.4(LRP4):c.1494C>T (p.Asn498=)
|
rs61749083
|
0.00221
|
NM_002334.4(LRP4):c.1048+7G>T
|
rs148557097
|
0.00220
|
NM_002334.4(LRP4):c.1787A>G (p.His596Arg)
|
rs138878258
|
0.00211
|
NM_031471.6(FERMT3):c.1404C>T (p.Ala468=)
|
rs201501349
|
0.00188
|
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=)
|
rs72920390
|
0.00178
|
NM_002334.4(LRP4):c.1915+6C>T
|
rs184555624
|
0.00175
|
NM_207122.2(EXT2):c.2019-14T>C
|
rs141747687
|
0.00173
|
NM_031471.6(FERMT3):c.527C>T (p.Ala176Val)
|
rs113348354
|
0.00146
|
NM_031471.6(FERMT3):c.161-11G>A
|
rs188768294
|
0.00143
|
NM_207122.2(EXT2):c.918C>T (p.Phe306=)
|
rs35436405
|
0.00139
|
NM_031471.6(FERMT3):c.1523A>C (p.Gln508Pro)
|
rs138031026
|
0.00137
|
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys)
|
rs140328152
|
0.00129
|
NM_002334.4(LRP4):c.4674C>T (p.His1558=)
|
rs61742905
|
0.00127
|
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)
|
rs147810437
|
0.00126
|
NM_002334.4(LRP4):c.639C>T (p.Asp213=)
|
rs144974139
|
0.00124
|
NM_031471.6(FERMT3):c.921C>T (p.Ser307=)
|
rs78713523
|
0.00116
|
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln)
|
rs138187791
|
0.00113
|
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)
|
rs149082597
|
0.00111
|
NM_002334.4(LRP4):c.430+15C>T
|
rs199835230
|
0.00108
|
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=)
|
rs142025489
|
0.00106
|
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp)
|
rs61742871
|
0.00098
|
NM_031471.6(FERMT3):c.1158C>G (p.Ser386Arg)
|
rs75295961
|
0.00094
|
NM_002334.4(LRP4):c.4951+10A>G
|
rs371455422
|
0.00093
|
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=)
|
rs148021416
|
0.00088
|
NM_207122.2(EXT2):c.1641C>T (p.Asp547=)
|
rs75987184
|
0.00088
|
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)
|
rs151234321
|
0.00086
|
NM_031471.6(FERMT3):c.607C>T (p.Pro203Ser)
|
rs143873934
|
0.00086
|
NM_002334.4(LRP4):c.257G>A (p.Arg86His)
|
rs138239756
|
0.00083
|
NM_002334.4(LRP4):c.4951+13G>C
|
rs367744491
|
0.00079
|
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys)
|
rs148711133
|
0.00079
|
NM_002334.4(LRP4):c.1005C>T (p.Asn335=)
|
rs141757569
|
0.00077
|
NM_002334.4(LRP4):c.141C>G (p.Ala47=)
|
rs543418199
|
0.00076
|
NM_002334.4(LRP4):c.2868G>A (p.Glu956=)
|
rs145460760
|
0.00076
|
NM_002334.4(LRP4):c.387C>T (p.Cys129=)
|
rs80333596
|
0.00076
|
NM_031471.6(FERMT3):c.394+12G>A
|
rs375841962
|
0.00076
|
NM_207122.2(EXT2):c.965G>A (p.Arg322His)
|
rs149727518
|
0.00076
|
NM_002334.4(LRP4):c.5520T>C (p.His1840=)
|
rs144350829
|
0.00075
|
NM_003900.5(SQSTM1):c.888G>A (p.Pro296=)
|
rs148984239
|
0.00073
|
NM_031471.6(FERMT3):c.615C>T (p.Pro205=)
|
rs142774418
|
0.00072
|
NM_207122.2(EXT2):c.358G>A (p.Val120Ile)
|
rs115948531
|
0.00070
|
NM_031471.6(FERMT3):c.332G>A (p.Arg111His)
|
rs145419469
|
0.00068
|
NM_000127.3(EXT1):c.1359C>T (p.Phe453=)
|
rs148922894
|
0.00067
|
NM_000127.3(EXT1):c.741G>A (p.Glu247=)
|
rs148473091
|
0.00063
|
NM_002334.4(LRP4):c.4807A>G (p.Ile1603Val)
|
rs147688807
|
0.00063
|
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=)
|
rs139482113
|
0.00063
|
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met)
|
rs138495222
|
0.00063
|
NM_002334.4(LRP4):c.570C>T (p.Pro190=)
|
rs147353838
|
0.00061
|
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=)
|
rs144639401
|
0.00060
|
NM_002334.4(LRP4):c.677-14T>C
|
rs373597511
|
0.00059
|
NM_000127.3(EXT1):c.1782G>A (p.Ala594=)
|
rs61753261
|
0.00058
|
NM_002334.4(LRP4):c.1194A>G (p.Glu398=)
|
rs138589242
|
0.00058
|
NM_207122.2(EXT2):c.1005A>G (p.Leu335=)
|
rs141977888
|
0.00058
|
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=)
|
rs148278350
|
0.00057
|
NM_031471.6(FERMT3):c.1692C>T (p.Asp564=)
|
rs200243967
|
0.00057
|
NM_000127.3(EXT1):c.1779C>T (p.Pro593=)
|
rs143881630
|
0.00056
|
NM_003900.5(SQSTM1):c.969+20G>A
|
rs199696608
|
0.00054
|
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)
|
rs200396166
|
0.00054
|
NM_031471.6(FERMT3):c.565G>A (p.Ala189Thr)
|
rs200176196
|
0.00054
|
NM_031471.6(FERMT3):c.930G>C (p.Val310=)
|
rs199508330
|
0.00054
|
NM_002334.4(LRP4):c.2506+17C>T
|
rs376349760
|
0.00052
|
NM_002334.4(LRP4):c.676+13G>A
|
rs200963011
|
0.00052
|
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=)
|
rs75700262
|
0.00052
|
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu)
|
rs147753803
|
0.00048
|
NM_003900.5(SQSTM1):c.372C>T (p.Pro124=)
|
rs11548640
|
0.00046
|
NM_207122.2(EXT2):c.1087G>A (p.Val363Met)
|
rs138943091
|
0.00046
|
NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val)
|
rs148865136
|
0.00045
|
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)
|
rs141035971
|
0.00044
|
NM_002334.4(LRP4):c.3407G>A (p.Arg1136Gln)
|
rs61736853
|
0.00042
|
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)
|
rs150681693
|
0.00042
|
NM_000127.3(EXT1):c.1536+7G>A
|
rs200128437
|
0.00041
|
NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp)
|
rs199747378
|
0.00041
|
NM_002334.4(LRP4):c.5558G>A (p.Ser1853Asn)
|
rs139535571
|
0.00041
|
NM_031471.6(FERMT3):c.1546-6C>T
|
rs200208378
|
0.00041
|
NM_031471.6(FERMT3):c.206A>C (p.Lys69Thr)
|
rs146932041
|
0.00041
|
NM_031471.6(FERMT3):c.515-5T>A
|
rs371192713
|
0.00041
|
NM_207122.2(EXT2):c.1527A>G (p.Leu509=)
|
rs145649534
|
0.00039
|
NM_002334.4(LRP4):c.4936C>T (p.Arg1646Trp)
|
rs141213903
|
0.00038
|
NM_002334.4(LRP4):c.1832G>A (p.Arg611His)
|
rs140282454
|
0.00036
|
NM_003900.5(SQSTM1):c.1278G>A (p.Ala426=)
|
rs143977783
|
0.00036
|
NM_031471.6(FERMT3):c.608C>T (p.Pro203Leu)
|
rs78534353
|
0.00036
|
NM_207122.2(EXT2):c.744-10T>G
|
rs200943294
|
0.00036
|
NM_207122.2(EXT2):c.150C>T (p.Ile50=)
|
rs138982530
|
0.00035
|
NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys)
|
rs139372286
|
0.00034
|
NM_003900.5(SQSTM1):c.783C>T (p.His261=)
|
rs145001811
|
0.00034
|
NM_031471.6(FERMT3):c.56G>A (p.Arg19Gln)
|
rs150500299
|
0.00034
|
NM_031471.6(FERMT3):c.683+18G>A
|
rs369707009
|
0.00033
|
NM_002334.4(LRP4):c.3004+19G>T
|
rs376749778
|
0.00031
|
NM_002334.4(LRP4):c.4536A>T (p.Thr1512=)
|
rs144169411
|
0.00031
|
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile)
|
rs145024832
|
0.00031
|
NM_207122.2(EXT2):c.260T>G (p.Met87Arg)
|
rs140075817
|
0.00031
|
NM_002334.4(LRP4):c.2815-6T>G
|
rs372210790
|
0.00030
|
NM_003900.5(SQSTM1):c.946T>C (p.Leu316=)
|
rs140315612
|
0.00030
|
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile)
|
rs145056421
|
0.00029
|
NM_207122.2(EXT2):c.1806+11G>A
|
rs372517964
|
0.00029
|
NM_207122.2(EXT2):c.509C>T (p.Thr170Ile)
|
rs113846849
|
0.00029
|
NM_000127.3(EXT1):c.99C>T (p.Ser33=)
|
rs147654656
|
0.00028
|
NM_207122.2(EXT2):c.1425A>G (p.Glu475=)
|
rs533065326
|
0.00027
|
NM_207122.2(EXT2):c.843A>G (p.Leu281=)
|
rs111320923
|
0.00027
|
NM_003900.5(SQSTM1):c.819A>G (p.Pro273=)
|
rs200388590
|
0.00026
|
NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val)
|
rs143746604
|
0.00026
|
NM_002334.4(LRP4):c.273C>T (p.Asp91=)
|
rs150401820
|
0.00025
|
NM_002334.4(LRP4):c.505G>A (p.Gly169Ser)
|
rs201585639
|
0.00025
|
NM_031471.6(FERMT3):c.938C>T (p.Pro313Leu)
|
rs141200776
|
0.00025
|
NM_207122.2(EXT2):c.1645C>T (p.Leu549=)
|
rs142565472
|
0.00025
|
NM_207122.2(EXT2):c.939+19C>G
|
rs370017441
|
0.00025
|
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile)
|
rs61753260
|
0.00024
|
NM_002334.4(LRP4):c.1059G>A (p.Thr353=)
|
rs144710408
|
0.00024
|
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg)
|
rs139006210
|
0.00024
|
NM_207122.2(EXT2):c.444C>T (p.Asn148=)
|
rs145884580
|
0.00024
|
NM_003900.5(SQSTM1):c.674-17C>T
|
rs372845160
|
0.00023
|
NM_031471.6(FERMT3):c.894+10G>A
|
rs112542691
|
0.00023
|
NM_207122.2(EXT2):c.1080-16T>G
|
rs377582390
|
0.00023
|
NM_002334.4(LRP4):c.378G>A (p.Leu126=)
|
rs201749120
|
0.00022
|
NM_031471.6(FERMT3):c.161-6C>T
|
rs114338405
|
0.00022
|
NM_031471.6(FERMT3):c.320G>A (p.Arg107His)
|
rs138704967
|
0.00022
|
NM_207122.2(EXT2):c.1519G>A (p.Val507Ile)
|
rs567445428
|
0.00022
|
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=)
|
rs144335505
|
0.00021
|
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=)
|
rs150734530
|
0.00021
|
NM_003900.5(SQSTM1):c.1201A>C (p.Met401Leu)
|
rs201795943
|
0.00021
|
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys)
|
rs373582542
|
0.00021
|
NM_002334.4(LRP4):c.1491C>T (p.Leu497=)
|
rs146501212
|
0.00020
|
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu)
|
rs145422541
|
0.00020
|
NM_031471.6(FERMT3):c.1080-5C>T
|
rs143722885
|
0.00020
|
NM_207122.2(EXT2):c.2013G>A (p.Val671=)
|
rs371019537
|
0.00020
|
NM_207122.2(EXT2):c.896G>A (p.Arg299His)
|
rs76901081
|
0.00020
|
NM_000127.3(EXT1):c.1319G>A (p.Arg440His)
|
rs144550328
|
0.00019
|
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly)
|
rs201957426
|
0.00019
|
NM_003900.5(SQSTM1):c.513C>G (p.Pro171=)
|
rs199931327
|
0.00019
|
NM_031471.6(FERMT3):c.1430G>A (p.Arg477His)
|
rs199749996
|
0.00019
|
NM_031471.6(FERMT3):c.303C>T (p.Ile101=)
|
rs375277199
|
0.00019
|
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr)
|
rs201253200
|
0.00018
|
NM_002334.4(LRP4):c.3753G>A (p.Pro1251=)
|
rs140010759
|
0.00018
|
NM_003900.5(SQSTM1):c.1038G>A (p.Val346=)
|
rs150470670
|
0.00018
|
NM_003900.5(SQSTM1):c.934A>G (p.Arg312Gly)
|
rs545080321
|
0.00018
|
NM_207122.2(EXT2):c.1554G>A (p.Lys518=)
|
rs144238557
|
0.00018
|
NM_002334.4(LRP4):c.1310-9G>C
|
rs200509094
|
0.00017
|
NM_002334.4(LRP4):c.2992C>T (p.Arg998Cys)
|
rs61749460
|
0.00017
|
NM_031471.6(FERMT3):c.161-12C>T
|
rs372152105
|
0.00017
|
NM_000127.3(EXT1):c.909C>G (p.Asp303Glu)
|
rs1176457130
|
0.00016
|
NM_002334.4(LRP4):c.695G>A (p.Arg232His)
|
rs370407081
|
0.00016
|
NM_031471.6(FERMT3):c.1393G>A (p.Glu465Lys)
|
rs373999037
|
0.00016
|
NM_031471.6(FERMT3):c.268C>T (p.Arg90Cys)
|
rs373315115
|
0.00016
|
NM_000127.3(EXT1):c.1612G>A (p.Val538Ile)
|
rs767492816
|
0.00015
|
NM_002334.4(LRP4):c.3429G>A (p.Thr1143=)
|
rs137882536
|
0.00015
|
NM_002334.4(LRP4):c.636C>T (p.Gly212=)
|
rs17848239
|
0.00015
|
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser)
|
rs200152247
|
0.00015
|
NM_031471.6(FERMT3):c.635G>A (p.Arg212His)
|
rs200467635
|
0.00015
|
NM_000127.3(EXT1):c.1749G>C (p.Gln583His)
|
rs575895733
|
0.00014
|
NM_002334.4(LRP4):c.1700C>T (p.Thr567Ile)
|
rs143885233
|
0.00014
|
NM_002334.4(LRP4):c.4584-4G>A
|
rs368518969
|
0.00014
|
NM_002334.4(LRP4):c.4584-5C>T
|
rs183295145
|
0.00014
|
NM_002334.4(LRP4):c.4594G>C (p.Val1532Leu)
|
rs147609642
|
0.00014
|
NM_002334.4(LRP4):c.605G>A (p.Arg202His)
|
rs149056824
|
0.00014
|
NM_003900.5(SQSTM1):c.214G>A (p.Gly72Arg)
|
rs376802604
|
0.00014
|
NM_031471.6(FERMT3):c.1237G>A (p.Gly413Ser)
|
rs150164798
|
0.00014
|
NM_031471.6(FERMT3):c.1251C>T (p.Cys417=)
|
rs374519761
|
0.00014
|
NM_207122.2(EXT2):c.2143A>G (p.Ile715Val)
|
rs199564714
|
0.00014
|
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys)
|
rs146098187
|
0.00014
|
NM_002334.4(LRP4):c.1769G>A (p.Arg590His)
|
rs149435615
|
0.00013
|
NM_031471.6(FERMT3):c.1400A>G (p.Gln467Arg)
|
rs758346041
|
0.00013
|
NM_031471.6(FERMT3):c.1828G>A (p.Asp610Asn)
|
rs201257852
|
0.00013
|
NM_031471.6(FERMT3):c.885C>T (p.Ala295=)
|
rs374379186
|
0.00013
|
NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg)
|
rs748770309
|
0.00013
|
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser)
|
rs368382074
|
0.00012
|
NM_002334.4(LRP4):c.2436T>C (p.Asp812=)
|
rs201159730
|
0.00012
|
NM_002334.4(LRP4):c.447C>T (p.Ser149=)
|
rs763246909
|
0.00012
|
NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val)
|
rs201239306
|
0.00012
|
NM_003900.5(SQSTM1):c.912G>A (p.Thr304=)
|
rs370970067
|
0.00012
|
NM_002334.4(LRP4):c.2763C>T (p.Asp921=)
|
rs532977473
|
0.00011
|
NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln)
|
rs143444937
|
0.00011
|
NM_002334.4(LRP4):c.472G>A (p.Gly158Arg)
|
rs193247849
|
0.00011
|
NM_002334.4(LRP4):c.5178C>T (p.Tyr1726=)
|
rs372105627
|
0.00011
|
NM_002334.4(LRP4):c.788G>A (p.Arg263His)
|
rs149906323
|
0.00011
|
NM_003900.5(SQSTM1):c.1272C>T (p.Ile424=)
|
rs374985304
|
0.00011
|
NM_031471.6(FERMT3):c.269G>A (p.Arg90His)
|
rs552829558
|
0.00011
|
NM_207122.2(EXT2):c.1407C>T (p.Leu469=)
|
rs148753786
|
0.00011
|
NM_000127.3(EXT1):c.1430C>G (p.Pro477Arg)
|
rs145720047
|
0.00010
|
NM_000127.3(EXT1):c.1680C>T (p.Ala560=)
|
rs540101738
|
0.00010
|
NM_002334.4(LRP4):c.1432C>T (p.Arg478Cys)
|
rs146660159
|
0.00010
|
NM_002334.4(LRP4):c.3267C>T (p.Asp1089=)
|
rs150616375
|
0.00010
|
NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln)
|
rs146372809
|
0.00010
|
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=)
|
rs143496445
|
0.00010
|
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln)
|
rs140495790
|
0.00010
|
NM_003900.5(SQSTM1):c.1083C>T (p.Ser361=)
|
rs201591177
|
0.00010
|
NM_003900.5(SQSTM1):c.755-8G>A
|
rs369581639
|
0.00010
|
NM_003900.5(SQSTM1):c.85C>T (p.Pro29Ser)
|
rs752506754
|
0.00010
|
NM_031471.6(FERMT3):c.1221C>T (p.Pro407=)
|
rs370181430
|
0.00010
|
NM_031471.6(FERMT3):c.5C>T (p.Ala2Val)
|
rs551546723
|
0.00010
|
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met)
|
rs138722406
|
0.00010
|
NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp)
|
rs142122090
|
0.00009
|
NM_000127.3(EXT1):c.122G>A (p.Ser41Asn)
|
rs199862937
|
0.00009
|
NM_000127.3(EXT1):c.1674A>G (p.Thr558=)
|
rs202051061
|
0.00009
|
NM_000127.3(EXT1):c.963-16C>T
|
rs369462786
|
0.00009
|
NM_002334.4(LRP4):c.1153C>T (p.Arg385Trp)
|
rs200623154
|
0.00009
|
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=)
|
rs61748895
|
0.00009
|
NM_002334.4(LRP4):c.2092+17C>T
|
rs200761003
|
0.00009
|
NM_002334.4(LRP4):c.2112C>T (p.Asp704=)
|
rs140757594
|
0.00009
|
NM_002334.4(LRP4):c.2216-14C>T
|
rs369714698
|
0.00009
|
NM_002334.4(LRP4):c.2980G>A (p.Val994Ile)
|
rs370091369
|
0.00009
|
NM_002334.4(LRP4):c.3073G>C (p.Gly1025Arg)
|
rs141565454
|
0.00009
|
NM_002334.4(LRP4):c.3537-13C>A
|
rs752687926
|
0.00009
|
NM_002334.4(LRP4):c.426G>A (p.Gln142=)
|
rs371955690
|
0.00009
|
NM_002334.4(LRP4):c.4317C>T (p.Ala1439=)
|
rs376909913
|
0.00009
|
NM_002334.4(LRP4):c.5489G>A (p.Arg1830Gln)
|
rs146864522
|
0.00009
|
NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly)
|
rs377204138
|
0.00009
|
NM_002334.4(LRP4):c.70G>A (p.Glu24Lys)
|
rs200465829
|
0.00009
|
NM_003900.5(SQSTM1):c.171G>C (p.Ala57=)
|
rs773605598
|
0.00009
|
NM_003900.5(SQSTM1):c.351G>A (p.Ala117=)
|
rs376214713
|
0.00009
|
NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn)
|
rs201923000
|
0.00009
|
NM_031471.6(FERMT3):c.1029+14C>T
|
rs201218236
|
0.00009
|
NM_031471.6(FERMT3):c.1647C>T (p.Phe549=)
|
rs370038112
|
0.00009
|
NM_031471.6(FERMT3):c.308G>A (p.Arg103Gln)
|
rs1430138108
|
0.00009
|
NM_031471.6(FERMT3):c.786+10G>T
|
rs371382691
|
0.00009
|
NM_031471.6(FERMT3):c.786+7C>T
|
rs373211697
|
0.00009
|
NM_031471.6(FERMT3):c.86C>T (p.Ala29Val)
|
rs144256756
|
0.00009
|
NM_207122.2(EXT2):c.283C>T (p.Arg95Cys)
|
rs376292686
|
0.00009
|
NM_000127.3(EXT1):c.1457C>T (p.Ala486Val)
|
rs188859975
|
0.00008
|
NM_002334.4(LRP4):c.2476G>A (p.Val826Ile)
|
rs142660660
|
0.00008
|
NM_002334.4(LRP4):c.282C>T (p.Asn94=)
|
rs17848224
|
0.00008
|
NM_002334.4(LRP4):c.3940G>A (p.Gly1314Ser)
|
rs371961330
|
0.00008
|
NM_002334.4(LRP4):c.4183G>A (p.Val1395Met)
|
rs774275092
|
0.00008
|
NM_003900.5(SQSTM1):c.332C>T (p.Pro111Leu)
|
rs371719657
|
0.00008
|
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr)
|
rs146086025
|
0.00008
|
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)
|
rs140561784
|
0.00008
|
NM_207122.2(EXT2):c.744-6T>A
|
rs755926713
|
0.00008
|
NM_000127.3(EXT1):c.1161A>G (p.Leu387=)
|
rs200256697
|
0.00007
|
NM_000127.3(EXT1):c.1609G>A (p.Val537Ile)
|
rs144397063
|
0.00007
|
NM_000127.3(EXT1):c.748T>A (p.Phe250Ile)
|
rs920291906
|
0.00007
|
NM_002334.4(LRP4):c.1288C>T (p.Arg430Trp)
|
rs140528156
|
0.00007
|
NM_002334.4(LRP4):c.3277+5G>T
|
rs374900441
|
0.00007
|
NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln)
|
rs138238230
|
0.00007
|
NM_002334.4(LRP4):c.660A>G (p.Ser220=)
|
rs200129866
|
0.00007
|
NM_003900.5(SQSTM1):c.800G>A (p.Arg267His)
|
rs149424705
|
0.00007
|
NM_031471.6(FERMT3):c.1014G>A (p.Ala338=)
|
rs774290819
|
0.00007
|
NM_031471.6(FERMT3):c.1516C>A (p.Arg506Ser)
|
rs184091587
|
0.00007
|
NM_031471.6(FERMT3):c.644G>A (p.Arg215Gln)
|
rs542357552
|
0.00007
|
NM_031471.6(FERMT3):c.787-7G>A
|
rs778795486
|
0.00007
|
NM_207122.2(EXT2):c.605C>T (p.Ala202Val)
|
rs771803942
|
0.00007
|
NM_000127.3(EXT1):c.1652T>A (p.Leu551Gln)
|
rs745890180
|
0.00006
|
NM_000127.3(EXT1):c.1659C>T (p.Tyr553=)
|
rs757115396
|
0.00006
|
NM_000127.3(EXT1):c.214G>A (p.Glu72Lys)
|
rs150818931
|
0.00006
|
NM_000127.3(EXT1):c.25A>T (p.Ile9Phe)
|
rs772883826
|
0.00006
|
NM_000127.3(EXT1):c.337G>A (p.Gly113Ser)
|
rs750116273
|
0.00006
|
NM_002334.4(LRP4):c.1023C>T (p.Ser341=)
|
rs200097836
|
0.00006
|
NM_002334.4(LRP4):c.1048+20G>A
|
rs199512829
|
0.00006
|
NM_002334.4(LRP4):c.1055G>A (p.Arg352Gln)
|
rs773234882
|
0.00006
|
NM_002334.4(LRP4):c.1369C>T (p.Arg457Cys)
|
rs148856658
|
0.00006
|
NM_002334.4(LRP4):c.1584C>T (p.Thr528=)
|
rs574108233
|
0.00006
|
NM_002334.4(LRP4):c.177C>T (p.Asp59=)
|
rs373625784
|
0.00006
|
NM_002334.4(LRP4):c.2318G>A (p.Arg773His)
|
rs374890595
|
0.00006
|
NM_002334.4(LRP4):c.3756G>A (p.Val1252=)
|
rs75923112
|
0.00006
|
NM_002334.4(LRP4):c.4254C>T (p.Asn1418=)
|
rs201016203
|
0.00006
|
NM_002334.4(LRP4):c.4255A>G (p.Met1419Val)
|
rs779526693
|
0.00006
|
NM_002334.4(LRP4):c.4293C>T (p.Asp1431=)
|
rs17848229
|
0.00006
|
NM_002334.4(LRP4):c.4408C>T (p.Leu1470=)
|
rs372569948
|
0.00006
|
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=)
|
rs753496184
|
0.00006
|
NM_002334.4(LRP4):c.5309G>A (p.Arg1770Gln)
|
rs150211735
|
0.00006
|
NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln)
|
rs770309253
|
0.00006
|
NM_002334.4(LRP4):c.5626G>A (p.Val1876Ile)
|
rs761403316
|
0.00006
|
NM_002334.4(LRP4):c.612C>T (p.Ile204=)
|
rs757902891
|
0.00006
|
NM_002334.4(LRP4):c.676+4A>G
|
rs759630167
|
0.00006
|
NM_002334.4(LRP4):c.826C>T (p.Arg276Cys)
|
rs557300271
|
0.00006
|
NM_003900.5(SQSTM1):c.1088G>A (p.Gly363Glu)
|
rs375495050
|
0.00006
|
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)
|
rs143511494
|
0.00006
|
NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu)
|
rs199854262
|
0.00006
|
NM_003900.5(SQSTM1):c.205+7G>C
|
rs912066047
|
0.00006
|
NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser)
|
rs769325755
|
0.00006
|
NM_003900.5(SQSTM1):c.378G>A (p.Val126=)
|
rs774780830
|
0.00006
|
NM_003900.5(SQSTM1):c.53G>A (p.Arg18His)
|
rs902195752
|
0.00006
|
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys)
|
rs1478180381
|
0.00006
|
NM_003900.5(SQSTM1):c.696G>A (p.Pro232=)
|
rs145688323
|
0.00006
|
NM_003900.5(SQSTM1):c.811G>A (p.Val271Ile)
|
rs376283809
|
0.00006
|
NM_003900.5(SQSTM1):c.962G>A (p.Arg321His)
|
rs752889531
|
0.00006
|
NM_031471.6(FERMT3):c.1205-16C>T
|
rs537958912
|
0.00006
|
NM_031471.6(FERMT3):c.1434G>A (p.Thr478=)
|
rs368102589
|
0.00006
|
NM_031471.6(FERMT3):c.1464C>T (p.His488=)
|
rs200660798
|
0.00006
|
NM_031471.6(FERMT3):c.1545+12C>T
|
rs748289124
|
0.00006
|
NM_031471.6(FERMT3):c.1545+13G>A
|
rs536991493
|
0.00006
|
NM_031471.6(FERMT3):c.1546-12A>G
|
rs766045189
|
0.00006
|
NM_031471.6(FERMT3):c.298G>A (p.Val100Ile)
|
rs145048660
|
0.00006
|
NM_031471.6(FERMT3):c.307C>T (p.Arg103Trp)
|
rs572874105
|
0.00006
|
NM_031471.6(FERMT3):c.315C>G (p.Pro105=)
|
rs367568281
|
0.00006
|
NM_031471.6(FERMT3):c.642A>G (p.Pro214=)
|
rs375528370
|
0.00006
|
NM_031471.6(FERMT3):c.93G>A (p.Ser31=)
|
rs753418361
|
0.00006
|
NM_031471.6(FERMT3):c.963C>T (p.Asp321=)
|
rs370133642
|
0.00006
|
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp)
|
rs540229057
|
0.00006
|
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln)
|
rs141256266
|
0.00006
|
NM_207122.2(EXT2):c.182G>A (p.Arg61His)
|
rs151228794
|
0.00006
|
NM_207122.2(EXT2):c.201G>A (p.Pro67=)
|
rs201374853
|
0.00006
|
NM_207122.2(EXT2):c.2053G>A (p.Gly685Arg)
|
rs367897723
|
0.00006
|
NM_207122.2(EXT2):c.357C>T (p.Gly119=)
|
rs753325648
|
0.00006
|
NM_207122.2(EXT2):c.919G>A (p.Asp307Asn)
|
rs200631641
|
0.00006
|
NM_000127.3(EXT1):c.1722+9C>T
|
rs371055794
|
0.00005
|
NM_000127.3(EXT1):c.2062C>T (p.Arg688Trp)
|
rs138855109
|
0.00005
|
NM_000127.3(EXT1):c.2178C>T (p.Pro726=)
|
rs557560039
|
0.00005
|
NM_000127.3(EXT1):c.543C>T (p.Leu181=)
|
rs375583188
|
0.00005
|
NM_002334.4(LRP4):c.1285G>A (p.Asp429Asn)
|
rs770279192
|
0.00005
|
NM_002334.4(LRP4):c.1437C>T (p.Arg479=)
|
rs141108617
|
0.00005
|
NM_002334.4(LRP4):c.1779C>T (p.Ala593=)
|
rs202063944
|
0.00005
|
NM_002334.4(LRP4):c.299C>T (p.Ser100Leu)
|
rs762837686
|
0.00005
|
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=)
|
rs148361325
|
0.00005
|
NM_002334.4(LRP4):c.3837C>T (p.Asp1279=)
|
rs779045515
|
0.00005
|
NM_002334.4(LRP4):c.4404T>C (p.Asn1468=)
|
rs752801557
|
0.00005
|
NM_002334.4(LRP4):c.4584-15T>C
|
rs777314555
|
0.00005
|
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu)
|
rs146362081
|
0.00005
|
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=)
|
rs200514161
|
0.00005
|
NM_002334.4(LRP4):c.5653C>T (p.Arg1885Ter)
|
rs147138337
|
0.00005
|
NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met)
|
rs372637156
|
0.00005
|
NM_002334.4(LRP4):c.922+13G>A
|
rs771013783
|
0.00005
|
NM_003900.5(SQSTM1):c.1165+9A>G
|
rs138885571
|
0.00005
|
NM_003900.5(SQSTM1):c.295A>C (p.Ile99Leu)
|
rs537142935
|
0.00005
|
NM_003900.5(SQSTM1):c.673+10G>C
|
rs753023157
|
0.00005
|
NM_003900.5(SQSTM1):c.683C>T (p.Pro228Leu)
|
rs151191977
|
0.00005
|
NM_003900.5(SQSTM1):c.901G>C (p.Glu301Gln)
|
rs1258386028
|
0.00005
|
NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly)
|
rs148294622
|
0.00005
|
NM_031471.6(FERMT3):c.1030-3T>C
|
rs772852769
|
0.00005
|
NM_031471.6(FERMT3):c.1375G>A (p.Asp459Asn)
|
rs374091426
|
0.00005
|
NM_031471.6(FERMT3):c.1884C>T (p.His628=)
|
rs747261674
|
0.00005
|
NM_031471.6(FERMT3):c.325G>A (p.Ala109Thr)
|
rs765368032
|
0.00005
|
NM_031471.6(FERMT3):c.432T>G (p.Ala144=)
|
rs752383968
|
0.00005
|
NM_207122.2(EXT2):c.1185C>G (p.Phe395Leu)
|
rs776907891
|
0.00005
|
NM_207122.2(EXT2):c.1341G>A (p.Pro447=)
|
rs774039598
|
0.00005
|
NM_207122.2(EXT2):c.1487C>T (p.Pro496Leu)
|
rs772530256
|
0.00005
|
NM_207122.2(EXT2):c.284G>A (p.Arg95His)
|
rs143703574
|
0.00005
|
NM_207122.2(EXT2):c.445C>T (p.Arg149Trp)
|
rs757297287
|
0.00005
|
NM_207122.2(EXT2):c.588C>T (p.Pro196=)
|
rs200009614
|
0.00005
|
NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys)
|
rs146316660
|
0.00005
|
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln)
|
rs770821909
|
0.00005
|
NM_207122.2(EXT2):c.8C>T (p.Ala3Val)
|
rs201185639
|
0.00005
|
NM_000127.3(EXT1):c.1695C>T (p.Asp565=)
|
rs762218262
|
0.00004
|
NM_000127.3(EXT1):c.1743G>A (p.Val581=)
|
rs375284779
|
0.00004
|
NM_000127.3(EXT1):c.591C>T (p.Ser197=)
|
rs770795716
|
0.00004
|
NM_000127.3(EXT1):c.609C>T (p.Tyr203=)
|
rs886042484
|
0.00004
|
NM_002334.4(LRP4):c.1054C>T (p.Arg352Trp)
|
rs148456240
|
0.00004
|
NM_002334.4(LRP4):c.1086C>T (p.Asn362=)
|
rs556905132
|
0.00004
|
NM_002334.4(LRP4):c.1087G>A (p.Gly363Ser)
|
rs765602909
|
0.00004
|
NM_002334.4(LRP4):c.1308G>A (p.Leu436=)
|
rs750627555
|
0.00004
|
NM_002334.4(LRP4):c.1309+6G>T
|
rs532952316
|
0.00004
|
NM_002334.4(LRP4):c.132C>T (p.Cys44=)
|
rs760552036
|
0.00004
|
NM_002334.4(LRP4):c.1481G>A (p.Arg494His)
|
rs777801967
|
0.00004
|
NM_002334.4(LRP4):c.1668C>T (p.Pro556=)
|
rs766741394
|
0.00004
|
NM_002334.4(LRP4):c.1932C>T (p.Phe644=)
|
rs1011484252
|
0.00004
|
NM_002334.4(LRP4):c.2080C>T (p.Arg694Cys)
|
rs1323412236
|
0.00004
|
NM_002334.4(LRP4):c.2093-16T>C
|
rs751168409
|
0.00004
|
NM_002334.4(LRP4):c.2202C>T (p.His734=)
|
rs757999800
|
0.00004
|
NM_002334.4(LRP4):c.2358C>T (p.His786=)
|
rs371677748
|
0.00004
|
NM_002334.4(LRP4):c.2535A>C (p.Thr845=)
|
rs145557677
|
0.00004
|
NM_002334.4(LRP4):c.2610C>T (p.Gly870=)
|
rs751431064
|
0.00004
|
NM_002334.4(LRP4):c.2738G>A (p.Gly913Glu)
|
rs376848284
|
0.00004
|
NM_002334.4(LRP4):c.2766C>T (p.Ala922=)
|
rs773599397
|
0.00004
|
NM_002334.4(LRP4):c.2837C>G (p.Pro946Arg)
|
rs368880157
|
0.00004
|
NM_002334.4(LRP4):c.3035G>T (p.Gly1012Val)
|
rs748636802
|
0.00004
|
NM_002334.4(LRP4):c.3367C>A (p.Leu1123Ile)
|
rs763514608
|
0.00004
|
NM_002334.4(LRP4):c.3388G>A (p.Ala1130Thr)
|
rs142904009
|
0.00004
|
NM_002334.4(LRP4):c.3459G>A (p.Leu1153=)
|
rs768821263
|
0.00004
|
NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln)
|
rs369916883
|
0.00004
|
NM_002334.4(LRP4):c.4245C>T (p.Asn1415=)
|
rs185084650
|
0.00004
|
NM_002334.4(LRP4):c.4665T>C (p.His1555=)
|
rs145206396
|
0.00004
|
NM_002334.4(LRP4):c.5001G>A (p.Lys1667=)
|
rs780329570
|
0.00004
|
NM_002334.4(LRP4):c.5088-20C>T
|
rs370004451
|
0.00004
|
NM_002334.4(LRP4):c.53-7C>T
|
rs745407997
|
0.00004
|
NM_002334.4(LRP4):c.5374T>C (p.Tyr1792His)
|
rs146542222
|
0.00004
|
NM_002334.4(LRP4):c.5540C>T (p.Thr1847Met)
|
rs375391856
|
0.00004
|
NM_002334.4(LRP4):c.5586G>A (p.Thr1862=)
|
rs751494811
|
0.00004
|
NM_002334.4(LRP4):c.761C>T (p.Ala254Val)
|
rs767281769
|
0.00004
|
NM_002334.4(LRP4):c.933A>G (p.Gln311=)
|
rs375108263
|
0.00004
|
NM_003900.5(SQSTM1):c.1178G>A (p.Arg393Gln)
|
rs200551825
|
0.00004
|
NM_003900.5(SQSTM1):c.122C>T (p.Pro41Leu)
|
rs745356508
|
0.00004
|
NM_003900.5(SQSTM1):c.1314G>A (p.Pro438=)
|
rs182058393
|
0.00004
|
NM_003900.5(SQSTM1):c.251C>T (p.Thr84Ile)
|
rs539682696
|
0.00004
|
NM_003900.5(SQSTM1):c.399G>C (p.Gly133=)
|
rs768110162
|
0.00004
|
NM_003900.5(SQSTM1):c.456C>T (p.Ser152=)
|
rs145037913
|
0.00004
|
NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val)
|
rs141502868
|
0.00004
|
NM_003900.5(SQSTM1):c.540G>A (p.Ser180=)
|
rs370203737
|
0.00004
|
NM_003900.5(SQSTM1):c.548G>A (p.Arg183His)
|
rs535606152
|
0.00004
|
NM_003900.5(SQSTM1):c.570C>T (p.His190=)
|
rs758110159
|
0.00004
|
NM_003900.5(SQSTM1):c.650G>A (p.Arg217His)
|
rs761822261
|
0.00004
|
NM_003900.5(SQSTM1):c.674C>T (p.Ala225Val)
|
rs202235745
|
0.00004
|
NM_003900.5(SQSTM1):c.687G>A (p.Ser229=)
|
rs140341924
|
0.00004
|
NM_003900.5(SQSTM1):c.719T>C (p.Val240Ala)
|
rs142719499
|
0.00004
|
NM_003900.5(SQSTM1):c.789G>A (p.Gly263=)
|
rs200889080
|
0.00004
|
NM_003900.5(SQSTM1):c.911C>T (p.Thr304Met)
|
rs150926394
|
0.00004
|
NM_003900.5(SQSTM1):c.942C>T (p.Ile314=)
|
rs200695664
|
0.00004
|
NM_031471.6(FERMT3):c.120G>A (p.Ser40=)
|
rs770220477
|
0.00004
|
NM_031471.6(FERMT3):c.126C>T (p.Ile42=)
|
rs145854519
|
0.00004
|
NM_031471.6(FERMT3):c.129C>T (p.Gly43=)
|
rs772711731
|
0.00004
|
NM_031471.6(FERMT3):c.1312-6G>A
|
rs751923843
|
0.00004
|
NM_031471.6(FERMT3):c.1312-7C>T
|
rs368719526
|
0.00004
|
NM_031471.6(FERMT3):c.1465G>A (p.Gly489Ser)
|
rs373722020
|
0.00004
|
NM_031471.6(FERMT3):c.1472A>C (p.Asp491Ala)
|
rs142686129
|
0.00004
|
NM_031471.6(FERMT3):c.1503C>T (p.Gly501=)
|
rs368698573
|
0.00004
|
NM_031471.6(FERMT3):c.160+10C>T
|
rs577691940
|
0.00004
|
NM_031471.6(FERMT3):c.1671-14T>C
|
rs201170855
|
0.00004
|
NM_031471.6(FERMT3):c.1722G>C (p.Leu574=)
|
rs769738360
|
0.00004
|
NM_031471.6(FERMT3):c.483C>T (p.Leu161=)
|
rs781259522
|
0.00004
|
NM_031471.6(FERMT3):c.735C>T (p.Asp245=)
|
rs376170241
|
0.00004
|
NM_031471.6(FERMT3):c.795C>T (p.Pro265=)
|
rs578201604
|
0.00004
|
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)
|
rs145903120
|
0.00004
|
NM_207122.2(EXT2):c.1277A>G (p.Tyr426Cys)
|
rs781283626
|
0.00004
|
NM_207122.2(EXT2):c.1495+9C>G
|
rs768311130
|
0.00004
|
NM_207122.2(EXT2):c.1663-16A>G
|
rs201032203
|
0.00004
|
NM_207122.2(EXT2):c.1704T>A (p.Gly568=)
|
rs145878394
|
0.00004
|
NM_207122.2(EXT2):c.1806+10C>T
|
rs200520590
|
0.00004
|
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
|
rs765648513
|
0.00004
|
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp)
|
rs200613371
|
0.00004
|
NM_207122.2(EXT2):c.728C>G (p.Pro243Arg)
|
rs200032672
|
0.00004
|
NM_207122.2(EXT2):c.849C>T (p.Leu283=)
|
rs749093709
|
0.00004
|
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn)
|
rs549810739
|
0.00004
|
NM_207122.2(EXT2):c.940-18C>G
|
rs375536301
|
0.00004
|
NM_207122.2(EXT2):c.94A>G (p.Ile32Val)
|
rs769478020
|
0.00004
|
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp)
|
rs145611597
|
0.00004
|
NM_207122.2(EXT2):c.995G>A (p.Ser332Asn)
|
rs148493676
|
0.00004
|
NM_207122.2(EXT2):c.996C>T (p.Ser332=)
|
rs142692757
|
0.00004
|
NM_000127.3(EXT1):c.1135G>A (p.Val379Ile)
|
rs371233961
|
0.00003
|
NM_000127.3(EXT1):c.1143C>T (p.Gly381=)
|
rs376640197
|
0.00003
|
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp)
|
rs756701753
|
0.00003
|
NM_000127.3(EXT1):c.1259A>G (p.Glu420Gly)
|
rs147847222
|
0.00003
|
NM_000127.3(EXT1):c.1285-9A>G
|
rs761040629
|
0.00003
|
NM_000127.3(EXT1):c.1293G>A (p.Gln431=)
|
rs773449892
|
0.00003
|
NM_000127.3(EXT1):c.1305C>A (p.Phe435Leu)
|
rs183760697
|
0.00003
|
NM_000127.3(EXT1):c.1503C>G (p.Leu501=)
|
rs146108006
|
0.00003
|
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly)
|
rs374887549
|
0.00003
|
NM_000127.3(EXT1):c.1899A>G (p.Leu633=)
|
rs368191286
|
0.00003
|
NM_002334.4(LRP4):c.1048C>T (p.Arg350Trp)
|
rs368744612
|
0.00003
|
NM_002334.4(LRP4):c.1284C>T (p.Pro428=)
|
rs374136996
|
0.00003
|
NM_002334.4(LRP4):c.1342A>G (p.Ile448Val)
|
rs761341366
|
0.00003
|
NM_002334.4(LRP4):c.1368C>T (p.His456=)
|
rs570223328
|
0.00003
|
NM_002334.4(LRP4):c.1433G>A (p.Arg478His)
|
rs1349507715
|
0.00003
|
NM_002334.4(LRP4):c.1825G>A (p.Gly609Arg)
|
rs1389594811
|
0.00003
|
NM_002334.4(LRP4):c.1922C>T (p.Pro641Leu)
|
rs886048355
|
0.00003
|
NM_002334.4(LRP4):c.2639C>T (p.Ala880Val)
|
rs373683358
|
0.00003
|
NM_002334.4(LRP4):c.274G>A (p.Gly92Arg)
|
rs754071316
|
0.00003
|
NM_002334.4(LRP4):c.3136+10A>G
|
rs377543577
|
0.00003
|
NM_002334.4(LRP4):c.323G>A (p.Arg108Gln)
|
rs772332690
|
0.00003
|
NM_002334.4(LRP4):c.3344A>G (p.His1115Arg)
|
rs758144252
|
0.00003
|
NM_002334.4(LRP4):c.3428C>T (p.Thr1143Met)
|
rs751933622
|
0.00003
|
NM_002334.4(LRP4):c.3462C>T (p.Asp1154=)
|
rs570258125
|
0.00003
|
NM_002334.4(LRP4):c.3516C>T (p.Ile1172=)
|
rs377557349
|
0.00003
|
NM_002334.4(LRP4):c.3599C>T (p.Ser1200Leu)
|
rs749792822
|
0.00003
|
NM_002334.4(LRP4):c.3861C>A (p.Ile1287=)
|
rs751449110
|
0.00003
|
NM_002334.4(LRP4):c.4269C>T (p.Ile1423=)
|
rs952249452
|
0.00003
|
NM_002334.4(LRP4):c.431-8C>T
|
rs150531536
|
0.00003
|
NM_002334.4(LRP4):c.448G>A (p.Asp150Asn)
|
rs200746048
|
0.00003
|
NM_002334.4(LRP4):c.4516C>T (p.Arg1506Trp)
|
rs766025454
|
0.00003
|
NM_002334.4(LRP4):c.4517G>A (p.Arg1506Gln)
|
rs142300637
|
0.00003
|
NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu)
|
rs767372563
|
0.00003
|
NM_002334.4(LRP4):c.501C>T (p.Cys167=)
|
rs369739623
|
0.00003
|
NM_002334.4(LRP4):c.504C>T (p.Asp168=)
|
rs749048211
|
0.00003
|
NM_002334.4(LRP4):c.5138C>T (p.Ala1713Val)
|
rs1035754612
|
0.00003
|
NM_002334.4(LRP4):c.5385+13A>G
|
rs370288647
|
0.00003
|
NM_002334.4(LRP4):c.768T>C (p.Cys256=)
|
rs774343834
|
0.00003
|
NM_002334.4(LRP4):c.825C>A (p.Phe275Leu)
|
rs772586265
|
0.00003
|
NM_002334.4(LRP4):c.842G>A (p.Arg281His)
|
rs146670859
|
0.00003
|
NM_002334.4(LRP4):c.968G>A (p.Arg323His)
|
rs745607286
|
0.00003
|
NM_003900.5(SQSTM1):c.1104C>T (p.Asp368=)
|
rs750140541
|
0.00003
|
NM_003900.5(SQSTM1):c.1166-5G>A
|
rs765613974
|
0.00003
|
NM_003900.5(SQSTM1):c.1313C>T (p.Pro438Leu)
|
rs759646319
|
0.00003
|
NM_003900.5(SQSTM1):c.301+12C>G
|
rs141530539
|
0.00003
|
NM_003900.5(SQSTM1):c.335C>T (p.Pro112Leu)
|
rs761423892
|
0.00003
|
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His)
|
rs758090054
|
0.00003
|
NM_003900.5(SQSTM1):c.430G>A (p.Val144Ile)
|
rs200973006
|
0.00003
|
NM_003900.5(SQSTM1):c.498C>T (p.Leu166=)
|
rs372518286
|
0.00003
|
NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg)
|
rs781478225
|
0.00003
|
NM_003900.5(SQSTM1):c.755-10C>T
|
rs763522925
|
0.00003
|
NM_003900.5(SQSTM1):c.772G>A (p.Asp258Asn)
|
rs774986849
|
0.00003
|
NM_003900.5(SQSTM1):c.799C>T (p.Arg267Cys)
|
rs138928957
|
0.00003
|
NM_031471.6(FERMT3):c.1080-17C>T
|
rs374311779
|
0.00003
|
NM_031471.6(FERMT3):c.1231G>A (p.Val411Ile)
|
rs779562122
|
0.00003
|
NM_031471.6(FERMT3):c.1312-2A>C
|
rs760261349
|
0.00003
|
NM_031471.6(FERMT3):c.1361G>A (p.Gly454Asp)
|
rs371103107
|
0.00003
|
NM_031471.6(FERMT3):c.1364G>A (p.Arg455His)
|
rs763449183
|
0.00003
|
NM_031471.6(FERMT3):c.1445G>A (p.Gly482Asp)
|
rs773457746
|
0.00003
|
NM_031471.6(FERMT3):c.1545+5C>T
|
rs755201201
|
0.00003
|
NM_031471.6(FERMT3):c.1708G>A (p.Ala570Thr)
|
rs756707894
|
0.00003
|
NM_031471.6(FERMT3):c.1821C>T (p.Ile607=)
|
rs779453227
|
0.00003
|
NM_031471.6(FERMT3):c.1983G>A (p.Glu661=)
|
rs774698514
|
0.00003
|
NM_031471.6(FERMT3):c.324C>T (p.Arg108=)
|
rs755053623
|
0.00003
|
NM_031471.6(FERMT3):c.37G>A (p.Asp13Asn)
|
rs375595381
|
0.00003
|
NM_031471.6(FERMT3):c.536G>A (p.Arg179Gln)
|
rs778967874
|
0.00003
|
NM_031471.6(FERMT3):c.616G>A (p.Asp206Asn)
|
rs201973872
|
0.00003
|
NM_031471.6(FERMT3):c.629T>A (p.Leu210His)
|
rs147374831
|
0.00003
|
NM_031471.6(FERMT3):c.684-8C>T
|
rs775337789
|
0.00003
|
NM_207122.2(EXT2):c.1023G>A (p.Pro341=)
|
rs757323768
|
0.00003
|
NM_207122.2(EXT2):c.1080-6C>T
|
rs752180821
|
0.00003
|
NM_207122.2(EXT2):c.1194G>A (p.Ala398=)
|
rs1011914306
|
0.00003
|
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu)
|
rs773613001
|
0.00003
|
NM_207122.2(EXT2):c.1461C>T (p.Val487=)
|
rs150758739
|
0.00003
|
NM_207122.2(EXT2):c.1532T>C (p.Val511Ala)
|
rs1470381472
|
0.00003
|
NM_207122.2(EXT2):c.1564C>T (p.Arg522Cys)
|
rs145507609
|
0.00003
|
NM_207122.2(EXT2):c.1681G>C (p.Asp561His)
|
rs151291188
|
0.00003
|
NM_207122.2(EXT2):c.1935+11C>G
|
rs764143899
|
0.00003
|
NM_207122.2(EXT2):c.2052C>T (p.Phe684=)
|
rs746317053
|
0.00003
|
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)
|
rs771039412
|
0.00003
|
NM_207122.2(EXT2):c.425A>G (p.Tyr142Cys)
|
rs762657738
|
0.00003
|
NM_207122.2(EXT2):c.699T>C (p.Tyr233=)
|
rs1319747883
|
0.00003
|
NM_207122.2(EXT2):c.748C>T (p.Arg250Trp)
|
rs183424469
|
0.00003
|
NM_000127.3(EXT1):c.1338C>T (p.Asn446=)
|
rs745637397
|
0.00002
|
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)
|
rs201504622
|
0.00002
|
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe)
|
rs763107867
|
0.00002
|
NM_000127.3(EXT1):c.148A>G (p.Ser50Gly)
|
rs772811741
|
0.00002
|
NM_000127.3(EXT1):c.1509T>A (p.Ala503=)
|
rs949806342
|
0.00002
|
NM_000127.3(EXT1):c.1608C>T (p.Val536=)
|
rs761252195
|
0.00002
|
NM_000127.3(EXT1):c.1705G>A (p.Val569Met)
|
rs1428345482
|
0.00002
|
NM_000127.3(EXT1):c.195C>T (p.Phe65=)
|
rs1202105470
|
0.00002
|
NM_000127.3(EXT1):c.2072G>A (p.Arg691His)
|
rs746678682
|
0.00002
|
NM_000127.3(EXT1):c.2106G>A (p.Gln702=)
|
rs780640885
|
0.00002
|
NM_000127.3(EXT1):c.210A>G (p.Gln70=)
|
rs367543871
|
0.00002
|
NM_000127.3(EXT1):c.2148G>A (p.Pro716=)
|
rs757499157
|
0.00002
|
NM_000127.3(EXT1):c.2171T>C (p.Leu724Pro)
|
rs758347621
|
0.00002
|
NM_000127.3(EXT1):c.2172C>T (p.Leu724=)
|
rs570085150
|
0.00002
|
NM_000127.3(EXT1):c.66T>C (p.Tyr22=)
|
rs764093488
|
0.00002
|
NM_000127.3(EXT1):c.699T>C (p.Ser233=)
|
rs370644296
|
0.00002
|
NM_000127.3(EXT1):c.74G>A (p.Gly25Asp)
|
rs765050783
|
0.00002
|
NM_000127.3(EXT1):c.768C>T (p.Ile256=)
|
rs566692634
|
0.00002
|
NM_000127.3(EXT1):c.962+7G>C
|
rs778490814
|
0.00002
|
NM_000127.3(EXT1):c.974G>A (p.Arg325Gln)
|
rs748651137
|
0.00002
|
NM_002334.4(LRP4):c.1058C>T (p.Thr353Met)
|
rs769661653
|
0.00002
|
NM_002334.4(LRP4):c.105A>C (p.Ala35=)
|
rs766633369
|
0.00002
|
NM_002334.4(LRP4):c.1200C>T (p.Ala400=)
|
rs755019127
|
0.00002
|
NM_002334.4(LRP4):c.1209G>A (p.Gly403=)
|
rs751742961
|
0.00002
|
NM_002334.4(LRP4):c.1380C>T (p.Tyr460=)
|
rs373523952
|
0.00002
|
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys)
|
rs143207358
|
0.00002
|
NM_002334.4(LRP4):c.1472G>A (p.Arg491Gln)
|
rs774924956
|
0.00002
|
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys)
|
rs749530671
|
0.00002
|
NM_002334.4(LRP4):c.1731C>G (p.Pro577=)
|
rs762761020
|
0.00002
|
NM_002334.4(LRP4):c.1824C>T (p.Ala608=)
|
rs368577516
|
0.00002
|
NM_002334.4(LRP4):c.228T>C (p.Phe76=)
|
rs146007685
|
0.00002
|
NM_002334.4(LRP4):c.2425-20C>T
|
rs760531886
|
0.00002
|
NM_002334.4(LRP4):c.2481C>G (p.Thr827=)
|
rs759325895
|
0.00002
|
NM_002334.4(LRP4):c.2747G>A (p.Arg916His)
|
rs752315031
|
0.00002
|
NM_002334.4(LRP4):c.2767G>A (p.Gly923Ser)
|
rs765716290
|
0.00002
|
NM_002334.4(LRP4):c.2861A>G (p.Tyr954Cys)
|
rs775608977
|
0.00002
|
NM_002334.4(LRP4):c.2863G>A (p.Gly955Arg)
|
rs772232191
|
0.00002
|
NM_002334.4(LRP4):c.290A>C (p.Glu97Ala)
|
rs766174802
|
0.00002
|
NM_002334.4(LRP4):c.2910C>T (p.Ser970=)
|
rs754936858
|
0.00002
|
NM_002334.4(LRP4):c.3033C>T (p.Gly1011=)
|
rs534064794
|
0.00002
|
NM_002334.4(LRP4):c.3278-6C>T
|
rs373579793
|
0.00002
|
NM_002334.4(LRP4):c.3701G>A (p.Arg1234Gln)
|
rs754092006
|
0.00002
|
NM_002334.4(LRP4):c.3709G>T (p.Ala1237Ser)
|
rs748719669
|
0.00002
|
NM_002334.4(LRP4):c.3895A>G (p.Met1299Val)
|
rs764853604
|
0.00002
|
NM_002334.4(LRP4):c.3939C>T (p.Cys1313=)
|
rs779892727
|
0.00002
|
NM_002334.4(LRP4):c.4082G>A (p.Arg1361His)
|
rs779038341
|
0.00002
|
NM_002334.4(LRP4):c.4362G>A (p.Ala1454=)
|
rs775166531
|
0.00002
|
NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala)
|
rs200506943
|
0.00002
|
NM_002334.4(LRP4):c.471C>T (p.Asp157=)
|
rs765171137
|
0.00002
|
NM_002334.4(LRP4):c.4762C>T (p.Arg1588Trp)
|
rs546318025
|
0.00002
|
NM_002334.4(LRP4):c.5070G>T (p.Leu1690=)
|
rs369034386
|
0.00002
|
NM_002334.4(LRP4):c.5087+14A>G
|
rs376251083
|
0.00002
|
NM_002334.4(LRP4):c.5132A>G (p.Asn1711Ser)
|
rs774058346
|
0.00002
|
NM_002334.4(LRP4):c.5179G>A (p.Ala1727Thr)
|
rs914781633
|
0.00002
|
NM_002334.4(LRP4):c.5186G>C (p.Gly1729Ala)
|
rs367608390
|
0.00002
|
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr)
|
rs541585714
|
0.00002
|
NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr)
|
rs778676466
|
0.00002
|
NM_002334.4(LRP4):c.548-20C>A
|
rs1267038625
|
0.00002
|
NM_002334.4(LRP4):c.5654G>A (p.Arg1885Gln)
|
rs779079160
|
0.00002
|
NM_002334.4(LRP4):c.5669A>G (p.Asp1890Gly)
|
rs749482785
|
0.00002
|
NM_002334.4(LRP4):c.585G>A (p.Glu195=)
|
rs147714102
|
0.00002
|
NM_002334.4(LRP4):c.923-16C>A
|
rs756847264
|
0.00002
|
NM_002334.4(LRP4):c.967C>T (p.Arg323Cys)
|
rs772004553
|
0.00002
|
NM_003900.5(SQSTM1):c.1043C>T (p.Pro348Leu)
|
rs772889843
|
0.00002
|
NM_003900.5(SQSTM1):c.106G>A (p.Glu36Lys)
|
rs376158712
|
0.00002
|
NM_003900.5(SQSTM1):c.1142C>T (p.Ala381Val)
|
rs772122047
|
0.00002
|
NM_003900.5(SQSTM1):c.1165+15A>T
|
rs764410841
|
0.00002
|
NM_003900.5(SQSTM1):c.1166-1G>A
|
rs529512338
|
0.00002
|
NM_003900.5(SQSTM1):c.1177C>T (p.Arg393Trp)
|
rs539942101
|
0.00002
|
NM_003900.5(SQSTM1):c.1206G>A (p.Leu402=)
|
rs745585269
|
0.00002
|
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)
|
rs757212984
|
0.00002
|
NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val)
|
rs779786150
|
0.00002
|
NM_003900.5(SQSTM1):c.154G>T (p.Ala52Ser)
|
rs748555662
|
0.00002
|
NM_003900.5(SQSTM1):c.1A>G (p.Met1Val)
|
rs1302810798
|
0.00002
|
NM_003900.5(SQSTM1):c.204C>G (p.Arg68=)
|
rs1449269769
|
0.00002
|
NM_003900.5(SQSTM1):c.216G>C (p.Gly72=)
|
rs757587948
|
0.00002
|
NM_003900.5(SQSTM1):c.234C>T (p.Ser78=)
|
rs746426826
|
0.00002
|
NM_003900.5(SQSTM1):c.263C>T (p.Ser88Phe)
|
rs763040103
|
0.00002
|
NM_003900.5(SQSTM1):c.268G>A (p.Val90Met)
|
rs181263868
|
0.00002
|
NM_003900.5(SQSTM1):c.280A>G (p.Ile94Val)
|
rs755702835
|
0.00002
|
NM_003900.5(SQSTM1):c.308A>G (p.Lys103Arg)
|
rs748170760
|
0.00002
|
NM_003900.5(SQSTM1):c.355C>T (p.Arg119Cys)
|
rs548787835
|
0.00002
|
NM_003900.5(SQSTM1):c.415C>T (p.Arg139Cys)
|
rs750256905
|
0.00002
|
NM_003900.5(SQSTM1):c.481C>T (p.Arg161Trp)
|
rs758625124
|
0.00002
|
NM_003900.5(SQSTM1):c.532-19C>T
|
rs368559255
|
0.00002
|
NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys)
|
rs567433223
|
0.00002
|
NM_003900.5(SQSTM1):c.562G>A (p.Val188Met)
|
rs371832577
|
0.00002
|
NM_003900.5(SQSTM1):c.632C>G (p.Pro211Arg)
|
rs368010261
|
0.00002
|
NM_003900.5(SQSTM1):c.717C>T (p.Asn239=)
|
rs747314158
|
0.00002
|
NM_003900.5(SQSTM1):c.727A>T (p.Ser243Cys)
|
rs769873457
|
0.00002
|
NM_003900.5(SQSTM1):c.734C>T (p.Ala245Val)
|
rs762767720
|
0.00002
|
NM_003900.5(SQSTM1):c.756C>T (p.Gly252=)
|
rs769297000
|
0.00002
|
NM_003900.5(SQSTM1):c.805A>C (p.Thr269Pro)
|
rs745853858
|
0.00002
|
NM_003900.5(SQSTM1):c.808C>T (p.Pro270Ser)
|
rs1194274800
|
0.00002
|
NM_003900.5(SQSTM1):c.847A>G (p.Ser283Gly)
|
rs148559402
|
0.00002
|
NM_003900.5(SQSTM1):c.887C>T (p.Pro296Leu)
|
rs376459756
|
0.00002
|
NM_003900.5(SQSTM1):c.907G>A (p.Ala303Thr)
|
rs1367793899
|
0.00002
|
NM_003900.5(SQSTM1):c.943G>A (p.Ala315Thr)
|
rs777431896
|
0.00002
|
NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu)
|
rs747589104
|
0.00002
|
NM_003900.5(SQSTM1):c.969+19C>T
|
rs566253151
|
0.00002
|
NM_031471.6(FERMT3):c.1269C>A (p.Pro423=)
|
rs760064066
|
0.00002
|
NM_031471.6(FERMT3):c.1501G>A (p.Gly501Ser)
|
rs142543888
|
0.00002
|
NM_031471.6(FERMT3):c.1546-5C>T
|
rs368775495
|
0.00002
|
NM_031471.6(FERMT3):c.1584C>T (p.Ala528=)
|
rs371831924
|
0.00002
|
NM_031471.6(FERMT3):c.1749C>T (p.Asp583=)
|
rs112045200
|
0.00002
|
NM_031471.6(FERMT3):c.1808G>A (p.Arg603Gln)
|
rs751183978
|
0.00002
|
NM_031471.6(FERMT3):c.1813-13G>A
|
rs372936910
|
0.00002
|
NM_031471.6(FERMT3):c.1916C>T (p.Thr639Met)
|
rs765844365
|
0.00002
|
NM_031471.6(FERMT3):c.264C>T (p.Asp88=)
|
rs759003628
|
0.00002
|
NM_031471.6(FERMT3):c.28G>A (p.Asp10Asn)
|
rs141640835
|
0.00002
|
NM_031471.6(FERMT3):c.386G>A (p.Arg129His)
|
rs773077169
|
0.00002
|
NM_031471.6(FERMT3):c.421C>T (p.Leu141=)
|
rs768084793
|
0.00002
|
NM_031471.6(FERMT3):c.481C>G (p.Leu161Val)
|
rs900256457
|
0.00002
|
NM_031471.6(FERMT3):c.598C>T (p.Arg200Trp)
|
rs374745942
|
0.00002
|
NM_031471.6(FERMT3):c.599G>A (p.Arg200Gln)
|
rs775750630
|
0.00002
|
NM_031471.6(FERMT3):c.683+17C>G
|
rs765943402
|
0.00002
|
NM_031471.6(FERMT3):c.731G>A (p.Gly244Glu)
|
rs776202905
|
0.00002
|
NM_031471.6(FERMT3):c.75G>A (p.Glu25=)
|
rs139520045
|
0.00002
|
NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys)
|
rs758785296
|
0.00002
|
NM_207122.2(EXT2):c.1079+5G>A
|
rs773025398
|
0.00002
|
NM_207122.2(EXT2):c.1109T>C (p.Met370Thr)
|
rs199711832
|
0.00002
|
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu)
|
rs527624522
|
0.00002
|
NM_207122.2(EXT2):c.1306-7C>G
|
rs771232346
|
0.00002
|
NM_207122.2(EXT2):c.1315A>G (p.Ser439Gly)
|
rs760086935
|
0.00002
|
NM_207122.2(EXT2):c.1389C>T (p.Tyr463=)
|
rs1166915261
|
0.00002
|
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)
|
rs772690312
|
0.00002
|
NM_207122.2(EXT2):c.1587C>T (p.Ile529=)
|
rs765251957
|
0.00002
|
NM_207122.2(EXT2):c.1642G>A (p.Glu548Lys)
|
rs1804679
|
0.00002
|
NM_207122.2(EXT2):c.1935G>A (p.Lys645=)
|
rs752606551
|
0.00002
|
NM_207122.2(EXT2):c.2018+17C>T
|
rs375554352
|
0.00002
|
NM_207122.2(EXT2):c.343G>A (p.Val115Met)
|
rs1470293557
|
0.00002
|
NM_207122.2(EXT2):c.497G>A (p.Arg166His)
|
rs772821141
|
0.00002
|
NM_207122.2(EXT2):c.743+10A>C
|
rs762753229
|
0.00002
|
NM_207122.2(EXT2):c.832G>A (p.Glu278Lys)
|
rs117329700
|
0.00002
|
NM_207122.2(EXT2):c.890G>A (p.Arg297His)
|
rs773482624
|
0.00002
|
NM_207122.2(EXT2):c.93C>T (p.Ser31=)
|
rs747830835
|
0.00002
|
NM_000127.3(EXT1):c.1014T>G (p.Arg338=)
|
rs750458103
|
0.00001
|
NM_000127.3(EXT1):c.110G>A (p.Arg37Lys)
|
rs757411850
|
0.00001
|
NM_000127.3(EXT1):c.1164+8A>G
|
rs765877825
|
0.00001
|
NM_000127.3(EXT1):c.123C>T (p.Ser41=)
|
rs1186563531
|
0.00001
|
NM_000127.3(EXT1):c.1266T>A (p.Ile422=)
|
rs899395870
|
0.00001
|
NM_000127.3(EXT1):c.1279C>G (p.Leu427Val)
|
rs773539946
|
0.00001
|
NM_000127.3(EXT1):c.1284+19C>T
|
rs774601928
|
0.00001
|
NM_000127.3(EXT1):c.1354T>C (p.Leu452=)
|
rs1372000855
|
0.00001
|
NM_000127.3(EXT1):c.1403A>G (p.Tyr468Cys)
|
rs1375505148
|
0.00001
|
NM_000127.3(EXT1):c.1406A>G (p.Tyr469Cys)
|
rs750748090
|
0.00001
|
NM_000127.3(EXT1):c.1467C>G (p.Pro489=)
|
rs747800473
|
0.00001
|
NM_000127.3(EXT1):c.1504G>A (p.Val502Met)
|
rs778048374
|
0.00001
|
NM_000127.3(EXT1):c.1536+6C>T
|
rs765347315
|
0.00001
|
NM_000127.3(EXT1):c.1545T>A (p.Val515=)
|
rs200372337
|
0.00001
|
NM_000127.3(EXT1):c.1633-2A>G
|
rs1233701691
|
0.00001
|
NM_000127.3(EXT1):c.1634T>G (p.Val545Gly)
|
rs1368926188
|
0.00001
|
NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp)
|
rs777698557
|
0.00001
|
NM_000127.3(EXT1):c.1704G>A (p.Thr568=)
|
rs146389596
|
0.00001
|
NM_000127.3(EXT1):c.1712C>T (p.Ser571Leu)
|
rs1305323658
|
0.00001
|
NM_000127.3(EXT1):c.1740A>G (p.Thr580=)
|
rs1340368285
|
0.00001
|
NM_000127.3(EXT1):c.1748A>G (p.Gln583Arg)
|
rs1309175788
|
0.00001
|
NM_000127.3(EXT1):c.1758T>C (p.Pro586=)
|
rs771063505
|
0.00001
|
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val)
|
rs1823254644
|
0.00001
|
NM_000127.3(EXT1):c.1813C>T (p.Arg605Trp)
|
rs146967463
|
0.00001
|
NM_000127.3(EXT1):c.1839G>A (p.Thr613=)
|
rs765677175
|
0.00001
|
NM_000127.3(EXT1):c.1843G>A (p.Asp615Asn)
|
rs1252579899
|
0.00001
|
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val)
|
rs773393953
|
0.00001
|
NM_000127.3(EXT1):c.1920C>T (p.Ala640=)
|
rs1480072354
|
0.00001
|
NM_000127.3(EXT1):c.2010C>T (p.Ile670=)
|
rs745677100
|
0.00001
|
NM_000127.3(EXT1):c.2055+17C>T
|
rs1295508874
|
0.00001
|
NM_000127.3(EXT1):c.2055+7A>C
|
rs889836376
|
0.00001
|
NM_000127.3(EXT1):c.2100G>A (p.Gln700=)
|
rs747703304
|
0.00001
|
NM_000127.3(EXT1):c.2121G>A (p.Thr707=)
|
rs746184779
|
0.00001
|
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys)
|
rs1373349863
|
0.00001
|
NM_000127.3(EXT1):c.2195A>G (p.Gln732Arg)
|
rs1188494289
|
0.00001
|
NM_000127.3(EXT1):c.2199C>G (p.Val733=)
|
rs201230140
|
0.00001
|
NM_000127.3(EXT1):c.252G>C (p.Gln84His)
|
rs376231630
|
0.00001
|
NM_000127.3(EXT1):c.296G>T (p.Arg99Leu)
|
rs778849200
|
0.00001
|
NM_000127.3(EXT1):c.302A>G (p.Glu101Gly)
|
rs1384997375
|
0.00001
|
NM_000127.3(EXT1):c.303G>A (p.Glu101=)
|
rs893833607
|
0.00001
|
NM_000127.3(EXT1):c.344A>G (p.Lys115Arg)
|
rs146127753
|
0.00001
|
NM_000127.3(EXT1):c.359C>T (p.Pro120Leu)
|
rs752226935
|
0.00001
|
NM_000127.3(EXT1):c.368A>G (p.Lys123Arg)
|
rs773394301
|
0.00001
|
NM_000127.3(EXT1):c.405A>G (p.Leu135=)
|
rs1401060657
|
0.00001
|
NM_000127.3(EXT1):c.419G>T (p.Gly140Val)
|
rs769557488
|
0.00001
|
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu)
|
rs1385688129
|
0.00001
|
NM_000127.3(EXT1):c.590C>G (p.Ser197Cys)
|
rs776678803
|
0.00001
|
NM_000127.3(EXT1):c.686A>G (p.Asn229Ser)
|
rs753036738
|
0.00001
|
NM_000127.3(EXT1):c.69C>T (p.Phe23=)
|
rs200276819
|
0.00001
|
NM_000127.3(EXT1):c.973C>T (p.Arg325Trp)
|
rs1394508840
|
0.00001
|
NM_002334.4(LRP4):c.1001T>G (p.Val334Gly)
|
rs767110056
|
0.00001
|
NM_002334.4(LRP4):c.1049-6G>C
|
rs775792196
|
0.00001
|
NM_002334.4(LRP4):c.1063G>A (p.Glu355Lys)
|
rs1446754894
|
0.00001
|
NM_002334.4(LRP4):c.1154G>A (p.Arg385Gln)
|
rs772931812
|
0.00001
|
NM_002334.4(LRP4):c.1175C>T (p.Thr392Met)
|
rs776484311
|
0.00001
|
NM_002334.4(LRP4):c.1212T>C (p.Tyr404=)
|
rs1941501832
|
0.00001
|
NM_002334.4(LRP4):c.1251A>G (p.Gln417=)
|
rs753671990
|
0.00001
|
NM_002334.4(LRP4):c.1255T>G (p.Trp419Gly)
|
rs1032020389
|
0.00001
|
NM_002334.4(LRP4):c.1310-7T>A
|
rs1555174059
|
0.00001
|
NM_002334.4(LRP4):c.1344C>T (p.Ile448=)
|
rs748651620
|
0.00001
|
NM_002334.4(LRP4):c.1365A>G (p.Pro455=)
|
rs143481229
|
0.00001
|
NM_002334.4(LRP4):c.1438G>C (p.Glu480Gln)
|
rs201502598
|
0.00001
|
NM_002334.4(LRP4):c.1510G>A (p.Glu504Lys)
|
rs760105990
|
0.00001
|
NM_002334.4(LRP4):c.1538C>G (p.Pro513Arg)
|
rs748357296
|
0.00001
|
NM_002334.4(LRP4):c.1599G>A (p.Ser533=)
|
rs745607132
|
0.00001
|
NM_002334.4(LRP4):c.1633C>T (p.Arg545Trp)
|
rs371763360
|
0.00001
|
NM_002334.4(LRP4):c.1696G>A (p.Gly566Ser)
|
rs1941453950
|
0.00001
|
NM_002334.4(LRP4):c.1761T>C (p.Ser587=)
|
rs1191198188
|
0.00001
|
NM_002334.4(LRP4):c.1780G>A (p.Asp594Asn)
|
rs779387728
|
0.00001
|
NM_002334.4(LRP4):c.1815C>T (p.Ile605=)
|
rs776484339
|
0.00001
|
NM_002334.4(LRP4):c.1829G>A (p.Arg610His)
|
rs17848218
|
0.00001
|
NM_002334.4(LRP4):c.1831C>T (p.Arg611Cys)
|
rs771793515
|
0.00001
|
NM_002334.4(LRP4):c.186T>C (p.Asp62=)
|
rs1941691871
|
0.00001
|
NM_002334.4(LRP4):c.1915+10T>C
|
rs566481615
|
0.00001
|
NM_002334.4(LRP4):c.2009C>T (p.Thr670Met)
|
rs752512047
|
0.00001
|
NM_002334.4(LRP4):c.2010G>A (p.Thr670=)
|
rs199654257
|
0.00001
|
NM_002334.4(LRP4):c.2118C>T (p.Asn706=)
|
rs762032159
|
0.00001
|
NM_002334.4(LRP4):c.2129C>T (p.Thr710Met)
|
rs777222715
|
0.00001
|
NM_002334.4(LRP4):c.21G>A (p.Ala7=)
|
rs967769665
|
0.00001
|
NM_002334.4(LRP4):c.2216-13G>A
|
rs376073181
|
0.00001
|
NM_002334.4(LRP4):c.2216-3C>T
|
rs555994387
|
0.00001
|
NM_002334.4(LRP4):c.2243G>A (p.Arg748Gln)
|
rs545112106
|
0.00001
|
NM_002334.4(LRP4):c.2317C>T (p.Arg773Cys)
|
rs376444422
|
0.00001
|
NM_002334.4(LRP4):c.2325T>G (p.Ala775=)
|
rs886048354
|
0.00001
|
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile)
|
rs190872977
|
0.00001
|
NM_002334.4(LRP4):c.2424+12C>T
|
rs765593279
|
0.00001
|
NM_002334.4(LRP4):c.2424+13G>A
|
rs374365893
|
0.00001
|
NM_002334.4(LRP4):c.2570A>C (p.Asn857Thr)
|
rs754708237
|
0.00001
|
NM_002334.4(LRP4):c.2593G>A (p.Val865Met)
|
rs765202931
|
0.00001
|
NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp)
|
rs776260999
|
0.00001
|
NM_002334.4(LRP4):c.2746C>T (p.Arg916Cys)
|
rs147259655
|
0.00001
|
NM_002334.4(LRP4):c.2835C>T (p.Leu945=)
|
rs201362411
|
0.00001
|
NM_002334.4(LRP4):c.2859C>T (p.Leu953=)
|
rs1368908778
|
0.00001
|
NM_002334.4(LRP4):c.2917C>T (p.Arg973Trp)
|
rs368011278
|
0.00001
|
NM_002334.4(LRP4):c.2935C>T (p.Arg979Trp)
|
rs757565682
|
0.00001
|
NM_002334.4(LRP4):c.3005-17C>T
|
rs778370608
|
0.00001
|
NM_002334.4(LRP4):c.3067C>T (p.Pro1023Ser)
|
rs201695857
|
0.00001
|
NM_002334.4(LRP4):c.3072C>T (p.Ser1024=)
|
rs537403005
|
0.00001
|
NM_002334.4(LRP4):c.3105C>T (p.Asn1035=)
|
rs1000744964
|
0.00001
|
NM_002334.4(LRP4):c.3137-8C>T
|
rs1941047135
|
0.00001
|
NM_002334.4(LRP4):c.316+1G>A
|
rs780336679
|
0.00001
|
NM_002334.4(LRP4):c.317-11T>C
|
rs776234303
|
0.00001
|
NM_002334.4(LRP4):c.317C>T (p.Pro106Leu)
|
rs556889686
|
0.00001
|
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=)
|
rs745991521
|
0.00001
|
NM_002334.4(LRP4):c.322C>T (p.Arg108Trp)
|
rs775191643
|
0.00001
|
NM_002334.4(LRP4):c.3277+11C>T
|
rs761158182
|
0.00001
|
NM_002334.4(LRP4):c.3331G>A (p.Asp1111Asn)
|
rs770071302
|
0.00001
|
NM_002334.4(LRP4):c.3365-7C>T
|
rs1565783851
|
0.00001
|
NM_002334.4(LRP4):c.339C>T (p.Asp113=)
|
rs368971854
|
0.00001
|
NM_002334.4(LRP4):c.3473G>A (p.Arg1158Gln)
|
rs150306458
|
0.00001
|
NM_002334.4(LRP4):c.3537G>T (p.Gly1179=)
|
rs767837337
|
0.00001
|
NM_002334.4(LRP4):c.3555C>G (p.Asp1185Glu)
|
rs1189743163
|
0.00001
|
NM_002334.4(LRP4):c.3580C>T (p.Arg1194Trp)
|
rs746573834
|
0.00001
|
NM_002334.4(LRP4):c.3586G>A (p.Gly1196Arg)
|
rs745459741
|
0.00001
|
NM_002334.4(LRP4):c.3607G>A (p.Ala1203Thr)
|
rs752888601
|
0.00001
|
NM_002334.4(LRP4):c.3609G>A (p.Ala1203=)
|
rs755263623
|
0.00001
|
NM_002334.4(LRP4):c.3699+10G>A
|
rs770541308
|
0.00001
|
NM_002334.4(LRP4):c.3699+5G>C
|
rs745544336
|
0.00001
|
NM_002334.4(LRP4):c.3731A>G (p.Asn1244Ser)
|
rs376299085
|
0.00001
|
NM_002334.4(LRP4):c.3825C>T (p.Ile1275=)
|
rs200028319
|
0.00001
|
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His)
|
rs746136135
|
0.00001
|
NM_002334.4(LRP4):c.3839A>G (p.Lys1280Arg)
|
rs371205300
|
0.00001
|
NM_002334.4(LRP4):c.3865G>A (p.Val1289Met)
|
rs756641717
|
0.00001
|
NM_002334.4(LRP4):c.390T>C (p.Asp130=)
|
rs140186161
|
0.00001
|
NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser)
|
rs771126504
|
0.00001
|
NM_002334.4(LRP4):c.3954C>T (p.Gly1318=)
|
rs1424152195
|
0.00001
|
NM_002334.4(LRP4):c.4043G>A (p.Cys1348Tyr)
|
rs1940969409
|
0.00001
|
NM_002334.4(LRP4):c.4095G>T (p.Arg1365=)
|
rs771308040
|
0.00001
|
NM_002334.4(LRP4):c.4109A>G (p.Asp1370Gly)
|
rs1565782159
|
0.00001
|
NM_002334.4(LRP4):c.4134T>A (p.His1378Gln)
|
rs763442262
|
0.00001
|
NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser)
|
rs768733310
|
0.00001
|
NM_002334.4(LRP4):c.4176T>C (p.Tyr1392=)
|
rs1246562304
|
0.00001
|
NM_002334.4(LRP4):c.417C>T (p.Ser139=)
|
rs760201117
|
0.00001
|
NM_002334.4(LRP4):c.4222G>A (p.Val1408Ile)
|
rs777975583
|
0.00001
|
NM_002334.4(LRP4):c.4250G>A (p.Ser1417Asn)
|
rs758719937
|
0.00001
|
NM_002334.4(LRP4):c.4270G>A (p.Gly1424Arg)
|
rs1026948492
|
0.00001
|
NM_002334.4(LRP4):c.429T>C (p.Cys143=)
|
rs1486932718
|
0.00001
|
NM_002334.4(LRP4):c.430+7G>A
|
rs1261702662
|
0.00001
|
NM_002334.4(LRP4):c.4369C>G (p.Leu1457Val)
|
rs571418643
|
0.00001
|
NM_002334.4(LRP4):c.4379C>T (p.Ser1460Phe)
|
rs61738061
|
0.00001
|
NM_002334.4(LRP4):c.4385G>A (p.Arg1462His)
|
rs777932389
|
0.00001
|
NM_002334.4(LRP4):c.441G>A (p.Lys147=)
|
rs986524567
|
0.00001
|
NM_002334.4(LRP4):c.4432G>C (p.Val1478Leu)
|
rs764880010
|
0.00001
|
NM_002334.4(LRP4):c.446C>T (p.Ser149Phe)
|
rs1239578585
|
0.00001
|
NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln)
|
rs764079526
|
0.00001
|
NM_002334.4(LRP4):c.4501T>C (p.Leu1501=)
|
rs766956711
|
0.00001
|
NM_002334.4(LRP4):c.4525C>T (p.Leu1509Phe)
|
rs1940914910
|
0.00001
|
NM_002334.4(LRP4):c.4544G>C (p.Gly1515Ala)
|
rs758635404
|
0.00001
|
NM_002334.4(LRP4):c.4579C>T (p.Arg1527Cys)
|
rs756059712
|
0.00001
|
NM_002334.4(LRP4):c.461G>A (p.Arg154His)
|
rs748199837
|
0.00001
|
NM_002334.4(LRP4):c.4634A>G (p.Asn1545Ser)
|
rs142352845
|
0.00001
|
NM_002334.4(LRP4):c.4741C>T (p.Arg1581Cys)
|
rs771144609
|
0.00001
|
NM_002334.4(LRP4):c.4763G>A (p.Arg1588Gln)
|
rs746746234
|
0.00001
|
NM_002334.4(LRP4):c.4829G>A (p.Arg1610Gln)
|
rs756543033
|
0.00001
|
NM_002334.4(LRP4):c.4899G>A (p.Ser1633=)
|
rs143849188
|
0.00001
|
NM_002334.4(LRP4):c.4943G>C (p.Cys1648Ser)
|
rs769497270
|
0.00001
|
NM_002334.4(LRP4):c.4981G>A (p.Ala1661Thr)
|
rs768284053
|
0.00001
|
NM_002334.4(LRP4):c.5064G>A (p.Thr1688=)
|
rs762976165
|
0.00001
|
NM_002334.4(LRP4):c.5071G>A (p.Glu1691Lys)
|
rs528376810
|
0.00001
|
NM_002334.4(LRP4):c.5088-19A>C
|
rs1338147762
|
0.00001
|
NM_002334.4(LRP4):c.5088-5C>T
|
rs994961184
|
0.00001
|
NM_002334.4(LRP4):c.5101G>A (p.Asp1701Asn)
|
rs1241649761
|
0.00001
|
NM_002334.4(LRP4):c.5118C>T (p.Leu1706=)
|
rs777935842
|
0.00001
|
NM_002334.4(LRP4):c.5156-15C>A
|
rs1204328295
|
0.00001
|
NM_002334.4(LRP4):c.52+13C>T
|
rs1434991490
|
0.00001
|
NM_002334.4(LRP4):c.5234T>C (p.Met1745Thr)
|
rs776705313
|
0.00001
|
NM_002334.4(LRP4):c.5247C>T (p.His1749=)
|
rs138596351
|
0.00001
|
NM_002334.4(LRP4):c.531C>T (p.Ser177=)
|
rs751226124
|
0.00001
|
NM_002334.4(LRP4):c.5362A>C (p.Asn1788His)
|
rs1208850907
|
0.00001
|
NM_002334.4(LRP4):c.5370G>A (p.Leu1790=)
|
rs376540994
|
0.00001
|
NM_002334.4(LRP4):c.541A>G (p.Asn181Asp)
|
rs1208569811
|
0.00001
|
NM_002334.4(LRP4):c.5424G>A (p.Lys1808=)
|
rs772706817
|
0.00001
|
NM_002334.4(LRP4):c.5428G>A (p.Val1810Ile)
|
rs779299308
|
0.00001
|
NM_002334.4(LRP4):c.547C>T (p.Pro183Ser)
|
rs765567296
|
0.00001
|
NM_002334.4(LRP4):c.548-18C>A
|
rs779705585
|
0.00001
|
NM_002334.4(LRP4):c.5574T>C (p.Asp1858=)
|
rs767372541
|
0.00001
|
NM_002334.4(LRP4):c.5585C>T (p.Thr1862Met)
|
rs368840169
|
0.00001
|
NM_002334.4(LRP4):c.5607G>A (p.Glu1869=)
|
rs762431184
|
0.00001
|
NM_002334.4(LRP4):c.5618G>A (p.Cys1873Tyr)
|
rs1312872252
|
0.00001
|
NM_002334.4(LRP4):c.563C>T (p.Ala188Val)
|
rs772245536
|
0.00001
|
NM_002334.4(LRP4):c.65G>T (p.Ser22Ile)
|
rs777229906
|
0.00001
|
NM_002334.4(LRP4):c.688C>G (p.Pro230Ala)
|
rs773770584
|
0.00001
|
NM_002334.4(LRP4):c.724C>T (p.Leu242=)
|
rs1037889784
|
0.00001
|
NM_002334.4(LRP4):c.746G>A (p.Arg249His)
|
rs780066978
|
0.00001
|
NM_002334.4(LRP4):c.750C>T (p.Cys250=)
|
rs758493823
|
0.00001
|
NM_002334.4(LRP4):c.759C>T (p.Asp253=)
|
rs368640705
|
0.00001
|
NM_002334.4(LRP4):c.806T>C (p.Met269Thr)
|
rs776417067
|
0.00001
|
NM_002334.4(LRP4):c.812C>T (p.Thr271Met)
|
rs768904639
|
0.00001
|
NM_002334.4(LRP4):c.851G>A (p.Arg284His)
|
rs369307795
|
0.00001
|
NM_002334.4(LRP4):c.894C>T (p.Asn298=)
|
rs1592542950
|
0.00001
|
NM_002334.4(LRP4):c.922+12C>T
|
rs1297911489
|
0.00001
|
NM_002334.4(LRP4):c.922+19C>G
|
rs749318305
|
0.00001
|
NM_002334.4(LRP4):c.923-19T>C
|
rs528895748
|
0.00001
|
NM_002334.4(LRP4):c.963T>A (p.Asn321Lys)
|
rs1257559745
|
0.00001
|
NM_002334.4(LRP4):c.974T>C (p.Ile325Thr)
|
rs753709386
|
0.00001
|
NM_003900.5(SQSTM1):c.1032A>G (p.Lys344=)
|
rs982817243
|
0.00001
|
NM_003900.5(SQSTM1):c.1037T>C (p.Val346Ala)
|
rs1250501488
|
0.00001
|
NM_003900.5(SQSTM1):c.1052G>C (p.Gly351Ala)
|
rs1355424687
|
0.00001
|
NM_003900.5(SQSTM1):c.1060_1061del (p.Gln354fs)
|
rs781417955
|
0.00001
|
NM_003900.5(SQSTM1):c.1077A>G (p.Pro359=)
|
rs771948860
|
0.00001
|
NM_003900.5(SQSTM1):c.1084G>A (p.Glu362Lys)
|
rs535932454
|
0.00001
|
NM_003900.5(SQSTM1):c.1090C>T (p.Pro364Ser)
|
rs776303544
|
0.00001
|
NM_003900.5(SQSTM1):c.1122C>T (p.Pro374=)
|
rs778199086
|
0.00001
|
NM_003900.5(SQSTM1):c.1139C>T (p.Ala380Val)
|
rs1447276382
|
0.00001
|
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu)
|
rs776749939
|
0.00001
|
NM_003900.5(SQSTM1):c.1165+1G>A
|
rs796051870
|
0.00001
|
NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln)
|
rs1391182750
|
0.00001
|
NM_003900.5(SQSTM1):c.1166-6C>T
|
rs762322293
|
0.00001
|
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val)
|
rs771966860
|
0.00001
|
NM_003900.5(SQSTM1):c.1230C>T (p.Gly410=)
|
rs766437927
|
0.00001
|
NM_003900.5(SQSTM1):c.1265A>G (p.Tyr422Cys)
|
rs1471403162
|
0.00001
|
NM_003900.5(SQSTM1):c.1284G>T (p.Leu428=)
|
rs573881131
|
0.00001
|
NM_003900.5(SQSTM1):c.1315C>A (p.Pro439Thr)
|
rs752910741
|
0.00001
|
NM_003900.5(SQSTM1):c.1322G>A (p.Ter441=)
|
rs987821927
|
0.00001
|
NM_003900.5(SQSTM1):c.158C>T (p.Ala53Val)
|
rs1241285995
|
0.00001
|
NM_003900.5(SQSTM1):c.160C>T (p.Leu54=)
|
rs1033321881
|
0.00001
|
NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val)
|
rs774355338
|
0.00001
|
NM_003900.5(SQSTM1):c.189C>T (p.Phe63=)
|
rs1278023995
|
0.00001
|
NM_003900.5(SQSTM1):c.195G>A (p.Ala65=)
|
rs986341874
|
0.00001
|
NM_003900.5(SQSTM1):c.205+6C>T
|
rs1286712928
|
0.00001
|
NM_003900.5(SQSTM1):c.213C>T (p.Asp71=)
|
rs780842511
|
0.00001
|
NM_003900.5(SQSTM1):c.222G>A (p.Leu74=)
|
rs371268375
|
0.00001
|
NM_003900.5(SQSTM1):c.240C>T (p.Asp80=)
|
rs148366738
|
0.00001
|
NM_003900.5(SQSTM1):c.241G>A (p.Glu81Lys)
|
rs368853286
|
0.00001
|
NM_003900.5(SQSTM1):c.256G>C (p.Ala86Pro)
|
rs1208284061
|
0.00001
|
NM_003900.5(SQSTM1):c.265T>C (p.Tyr89His)
|
rs766411872
|
0.00001
|
NM_003900.5(SQSTM1):c.267C>T (p.Tyr89=)
|
rs150883783
|
0.00001
|
NM_003900.5(SQSTM1):c.26A>G (p.Tyr9Cys)
|
rs1295820640
|
0.00001
|
NM_003900.5(SQSTM1):c.274G>A (p.Asp92Asn)
|
rs1181188986
|
0.00001
|
NM_003900.5(SQSTM1):c.275A>G (p.Asp92Gly)
|
rs752438818
|
0.00001
|
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)
|
rs886039782
|
0.00001
|
NM_003900.5(SQSTM1):c.293A>G (p.Tyr98Cys)
|
rs750784335
|
0.00001
|
NM_003900.5(SQSTM1):c.302-5T>C
|
rs199527061
|
0.00001
|
NM_003900.5(SQSTM1):c.315C>T (p.Cys105=)
|
rs770804860
|
0.00001
|
NM_003900.5(SQSTM1):c.317G>A (p.Arg106Gln)
|
rs778554903
|
0.00001
|
NM_003900.5(SQSTM1):c.319C>T (p.Arg107Trp)
|
rs771903158
|
0.00001
|
NM_003900.5(SQSTM1):c.321G>A (p.Arg107=)
|
rs1378204039
|
0.00001
|
NM_003900.5(SQSTM1):c.33G>C (p.Leu11=)
|
rs1476097073
|
0.00001
|
NM_003900.5(SQSTM1):c.361A>G (p.Met121Val)
|
rs1209470881
|
0.00001
|
NM_003900.5(SQSTM1):c.384C>T (p.Cys128=)
|
rs768088721
|
0.00001
|
NM_003900.5(SQSTM1):c.385G>A (p.Asp129Asn)
|
rs753212399
|
0.00001
|
NM_003900.5(SQSTM1):c.39G>A (p.Lys13=)
|
rs1007964808
|
0.00001
|
NM_003900.5(SQSTM1):c.3G>A (p.Met1Ile)
|
rs1309887153
|
0.00001
|
NM_003900.5(SQSTM1):c.429C>A (p.Ser143Arg)
|
rs374417389
|
0.00001
|
NM_003900.5(SQSTM1):c.431T>A (p.Val144Asp)
|
rs1442832120
|
0.00001
|
NM_003900.5(SQSTM1):c.444C>T (p.Tyr148=)
|
rs769497182
|
0.00001
|
NM_003900.5(SQSTM1):c.508A>G (p.Ser170Gly)
|
rs377198490
|
0.00001
|
NM_003900.5(SQSTM1):c.516C>T (p.Phe172=)
|
rs1387392776
|
0.00001
|
NM_003900.5(SQSTM1):c.517G>A (p.Gly173Arg)
|
rs200731802
|
0.00001
|
NM_003900.5(SQSTM1):c.531+15T>C
|
rs1280173893
|
0.00001
|
NM_003900.5(SQSTM1):c.532-14A>G
|
rs748661765
|
0.00001
|
NM_003900.5(SQSTM1):c.532-7C>T
|
rs770329828
|
0.00001
|
NM_003900.5(SQSTM1):c.546C>T (p.Ser182=)
|
rs759721454
|
0.00001
|
NM_003900.5(SQSTM1):c.557G>A (p.Arg186Gln)
|
rs778537429
|
0.00001
|
NM_003900.5(SQSTM1):c.612A>G (p.Gly204=)
|
rs878982215
|
0.00001
|
NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys)
|
rs867275286
|
0.00001
|
NM_003900.5(SQSTM1):c.663G>A (p.Thr221=)
|
rs758128093
|
0.00001
|
NM_003900.5(SQSTM1):c.674-7A>C
|
rs776278684
|
0.00001
|
NM_003900.5(SQSTM1):c.686C>T (p.Ser229Leu)
|
rs1397353855
|
0.00001
|
NM_003900.5(SQSTM1):c.695C>T (p.Pro232Leu)
|
rs757778292
|
0.00001
|
NM_003900.5(SQSTM1):c.723G>C (p.Gly241=)
|
rs889431769
|
0.00001
|
NM_003900.5(SQSTM1):c.728G>A (p.Ser243Asn)
|
rs1325278483
|
0.00001
|
NM_003900.5(SQSTM1):c.72C>T (p.Ser24=)
|
rs774460525
|
0.00001
|
NM_003900.5(SQSTM1):c.73T>C (p.Phe25Leu)
|
rs1353365075
|
0.00001
|
NM_003900.5(SQSTM1):c.755-7C>T
|
rs781389243
|
0.00001
|
NM_003900.5(SQSTM1):c.755-9C>T
|
rs759140266
|
0.00001
|
NM_003900.5(SQSTM1):c.763G>C (p.Val255Leu)
|
rs182522590
|
0.00001
|
NM_003900.5(SQSTM1):c.769A>G (p.Ile257Val)
|
rs778679611
|
0.00001
|
NM_003900.5(SQSTM1):c.770T>C (p.Ile257Thr)
|
rs745788957
|
0.00001
|
NM_003900.5(SQSTM1):c.784G>A (p.Gly262Arg)
|
rs763179729
|
0.00001
|
NM_003900.5(SQSTM1):c.802C>G (p.Leu268Val)
|
rs753685955
|
0.00001
|
NM_003900.5(SQSTM1):c.807C>G (p.Thr269=)
|
rs779544030
|
0.00001
|
NM_003900.5(SQSTM1):c.810C>T (p.Pro270=)
|
rs1280918343
|
0.00001
|
NM_003900.5(SQSTM1):c.866G>A (p.Cys289Tyr)
|
rs757493001
|
0.00001
|
NM_003900.5(SQSTM1):c.87C>G (p.Pro29=)
|
rs755859379
|
0.00001
|
NM_003900.5(SQSTM1):c.923C>T (p.Ala308Val)
|
rs541356917
|
0.00001
|
NM_003900.5(SQSTM1):c.927G>A (p.Glu309=)
|
rs766129922
|
0.00001
|
NM_003900.5(SQSTM1):c.938A>G (p.Lys313Arg)
|
rs1460912506
|
0.00001
|
NM_003900.5(SQSTM1):c.964C>T (p.Pro322Ser)
|
rs1225559170
|
0.00001
|
NM_003900.5(SQSTM1):c.970-14G>A
|
rs761682844
|
0.00001
|
NM_003900.5(SQSTM1):c.97G>T (p.Ala33Ser)
|
rs1156716975
|
0.00001
|
NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter)
|
rs1185406298
|
0.00001
|
NM_003900.5(SQSTM1):c.998G>A (p.Gly333Glu)
|
rs755411592
|
0.00001
|
NM_031471.6(FERMT3):c.1013C>T (p.Ala338Val)
|
rs1006026359
|
0.00001
|
NM_031471.6(FERMT3):c.1029+18G>A
|
rs768788260
|
0.00001
|
NM_031471.6(FERMT3):c.1029+19C>G
|
rs986189621
|
0.00001
|
NM_031471.6(FERMT3):c.1030-9C>G
|
rs368225468
|
0.00001
|
NM_031471.6(FERMT3):c.1047C>A (p.Ile349=)
|
rs779076021
|
0.00001
|
NM_031471.6(FERMT3):c.1079+8G>T
|
rs568273430
|
0.00001
|
NM_031471.6(FERMT3):c.1080-4G>A
|
rs764978388
|
0.00001
|
NM_031471.6(FERMT3):c.1108C>T (p.Arg370Cys)
|
rs867531303
|
0.00001
|
NM_031471.6(FERMT3):c.1119G>C (p.Trp373Cys)
|
rs1347504374
|
0.00001
|
NM_031471.6(FERMT3):c.1165G>A (p.Glu389Lys)
|
rs377759054
|
0.00001
|
NM_031471.6(FERMT3):c.1236C>T (p.Ser412=)
|
rs187514956
|
0.00001
|
NM_031471.6(FERMT3):c.1239C>T (p.Gly413=)
|
rs748029046
|
0.00001
|
NM_031471.6(FERMT3):c.1247T>G (p.Phe416Cys)
|
rs772177008
|
0.00001
|
NM_031471.6(FERMT3):c.1260C>T (p.Leu420=)
|
rs779788201
|
0.00001
|
NM_031471.6(FERMT3):c.1301G>A (p.Arg434Gln)
|
rs767054440
|
0.00001
|
NM_031471.6(FERMT3):c.1363C>T (p.Arg455Cys)
|
rs775462582
|
0.00001
|
NM_031471.6(FERMT3):c.1374C>T (p.Ala458=)
|
rs762230079
|
0.00001
|
NM_031471.6(FERMT3):c.1439G>C (p.Ser480Thr)
|
rs772388994
|
0.00001
|
NM_031471.6(FERMT3):c.1448C>T (p.Pro483Leu)
|
rs561391251
|
0.00001
|
NM_031471.6(FERMT3):c.144G>T (p.Lys48Asn)
|
rs369062120
|
0.00001
|
NM_031471.6(FERMT3):c.1507G>A (p.Val503Ile)
|
rs769458086
|
0.00001
|
NM_031471.6(FERMT3):c.1527A>C (p.Arg509=)
|
rs755898664
|
0.00001
|
NM_031471.6(FERMT3):c.160+11G>A
|
rs1017427707
|
0.00001
|
NM_031471.6(FERMT3):c.1609C>T (p.Leu537=)
|
rs772807042
|
0.00001
|
NM_031471.6(FERMT3):c.161-5C>T
|
rs369340432
|
0.00001
|
NM_031471.6(FERMT3):c.1635C>G (p.Ser545=)
|
rs765423929
|
0.00001
|
NM_031471.6(FERMT3):c.1642G>A (p.Asp548Asn)
|
rs763268722
|
0.00001
|
NM_031471.6(FERMT3):c.1707C>T (p.Ile569=)
|
rs746482825
|
0.00001
|
NM_031471.6(FERMT3):c.1726C>T (p.Arg576Cys)
|
rs775250461
|
0.00001
|
NM_031471.6(FERMT3):c.1731C>T (p.Ile577=)
|
rs184609471
|
0.00001
|
NM_031471.6(FERMT3):c.1741G>A (p.Val581Met)
|
rs767660746
|
0.00001
|
NM_031471.6(FERMT3):c.1746C>T (p.Gly582=)
|
rs773426791
|
0.00001
|
NM_031471.6(FERMT3):c.1819A>G (p.Ile607Val)
|
rs755669055
|
0.00001
|
NM_031471.6(FERMT3):c.1841A>G (p.Asn614Ser)
|
rs1337201735
|
0.00001
|
NM_031471.6(FERMT3):c.1842T>C (p.Asn614=)
|
rs754873524
|
0.00001
|
NM_031471.6(FERMT3):c.1873C>T (p.Arg625Ter)
|
rs375257104
|
0.00001
|
NM_031471.6(FERMT3):c.1896G>A (p.Gly632=)
|
rs1307248777
|
0.00001
|
NM_031471.6(FERMT3):c.1918C>T (p.Arg640Trp)
|
rs886043481
|
0.00001
|
NM_031471.6(FERMT3):c.1924C>T (p.Arg642Trp)
|
rs778780064
|
0.00001
|
NM_031471.6(FERMT3):c.262G>A (p.Asp88Asn)
|
rs370418382
|
0.00001
|
NM_031471.6(FERMT3):c.34A>G (p.Ile12Val)
|
rs1946335026
|
0.00001
|
NM_031471.6(FERMT3):c.369T>C (p.Ala123=)
|
rs1165361379
|
0.00001
|
NM_031471.6(FERMT3):c.389T>G (p.Leu130Arg)
|
rs1433083830
|
0.00001
|
NM_031471.6(FERMT3):c.395-10C>T
|
rs1259281702
|
0.00001
|
NM_031471.6(FERMT3):c.409G>A (p.Glu137Lys)
|
rs762181713
|
0.00001
|
NM_031471.6(FERMT3):c.427C>T (p.Arg143Trp)
|
rs750690989
|
0.00001
|
NM_031471.6(FERMT3):c.42G>A (p.Ser14=)
|
rs1179556498
|
0.00001
|
NM_031471.6(FERMT3):c.475G>A (p.Glu159Lys)
|
rs895025488
|
0.00001
|
NM_031471.6(FERMT3):c.516C>T (p.Gly172=)
|
rs1484992100
|
0.00001
|
NM_031471.6(FERMT3):c.517G>A (p.Val173Met)
|
rs756692622
|
0.00001
|
NM_031471.6(FERMT3):c.52C>G (p.Leu18Val)
|
rs772115690
|
0.00001
|
NM_031471.6(FERMT3):c.535C>T (p.Arg179Trp)
|
rs754848089
|
0.00001
|
NM_031471.6(FERMT3):c.568C>G (p.Gln190Glu)
|
rs777178622
|
0.00001
|
NM_031471.6(FERMT3):c.660A>G (p.Ser220=)
|
rs1456049623
|
0.00001
|
NM_031471.6(FERMT3):c.683+20C>T
|
rs1565290775
|
0.00001
|
NM_031471.6(FERMT3):c.698C>T (p.Ser233Leu)
|
rs140948450
|
0.00001
|
NM_031471.6(FERMT3):c.6G>A (p.Ala2=)
|
rs767213325
|
0.00001
|
NM_031471.6(FERMT3):c.708C>T (p.Leu236=)
|
rs749769689
|
0.00001
|
NM_031471.6(FERMT3):c.772G>A (p.Asp258Asn)
|
rs139416960
|
0.00001
|
NM_031471.6(FERMT3):c.786+8G>A
|
rs376909061
|
0.00001
|
NM_031471.6(FERMT3):c.787-12C>T
|
rs1251257822
|
0.00001
|
NM_031471.6(FERMT3):c.827G>A (p.Arg276Gln)
|
rs777040462
|
0.00001
|
NM_031471.6(FERMT3):c.889C>T (p.Leu297=)
|
rs753533257
|
0.00001
|
NM_031471.6(FERMT3):c.894+16G>A
|
rs747695131
|
0.00001
|
NM_031471.6(FERMT3):c.901A>G (p.Ile301Val)
|
rs906322276
|
0.00001
|
NM_031471.6(FERMT3):c.902T>C (p.Ile301Thr)
|
rs1376001840
|
0.00001
|
NM_031471.6(FERMT3):c.939G>A (p.Pro313=)
|
rs1239621595
|
0.00001
|
NM_207122.2(EXT2):c.1003T>C (p.Leu335=)
|
rs766467969
|
0.00001
|
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp)
|
rs371996957
|
0.00001
|
NM_207122.2(EXT2):c.1123A>G (p.Ser375Gly)
|
rs369029338
|
0.00001
|
NM_207122.2(EXT2):c.1126A>G (p.Ile376Val)
|
rs1465688101
|
0.00001
|
NM_207122.2(EXT2):c.1173+18G>A
|
rs760436963
|
0.00001
|
NM_207122.2(EXT2):c.1180T>G (p.Trp394Gly)
|
rs769052712
|
0.00001
|
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr)
|
rs530523884
|
0.00001
|
NM_207122.2(EXT2):c.1226C>T (p.Ala409Val)
|
rs1279920600
|
0.00001
|
NM_207122.2(EXT2):c.1231C>T (p.Leu411=)
|
rs914948841
|
0.00001
|
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu)
|
rs747153343
|
0.00001
|
NM_207122.2(EXT2):c.1270A>G (p.Ile424Val)
|
rs1473876438
|
0.00001
|
NM_207122.2(EXT2):c.1287G>T (p.Trp429Cys)
|
rs1403873034
|
0.00001
|
NM_207122.2(EXT2):c.1305+12C>G
|
rs767006996
|
0.00001
|
NM_207122.2(EXT2):c.1305+2T>C
|
rs202153611
|
0.00001
|
NM_207122.2(EXT2):c.1319T>A (p.Val440Glu)
|
rs1053473840
|
0.00001
|
NM_207122.2(EXT2):c.1354C>G (p.Gln452Glu)
|
rs1955475218
|
0.00001
|
NM_207122.2(EXT2):c.1375A>G (p.Ile459Val)
|
rs779292816
|
0.00001
|
NM_207122.2(EXT2):c.1409T>C (p.Phe470Ser)
|
rs1360036719
|
0.00001
|
NM_207122.2(EXT2):c.1484A>G (p.Asn495Ser)
|
rs1590640131
|
0.00001
|
NM_207122.2(EXT2):c.1515C>G (p.Ile505Met)
|
rs145279140
|
0.00001
|
NM_207122.2(EXT2):c.1516C>T (p.Arg506Trp)
|
rs750549318
|
0.00001
|
NM_207122.2(EXT2):c.1518G>T (p.Arg506=)
|
rs747230848
|
0.00001
|
NM_207122.2(EXT2):c.1575T>G (p.Pro525=)
|
rs372914384
|
0.00001
|
NM_207122.2(EXT2):c.1610T>C (p.Ile537Thr)
|
rs766600182
|
0.00001
|
NM_207122.2(EXT2):c.1824T>A (p.Tyr608Ter)
|
rs781083252
|
0.00001
|
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln)
|
rs773705067
|
0.00001
|
NM_207122.2(EXT2):c.1974A>G (p.Thr658=)
|
rs1319948823
|
0.00001
|
NM_207122.2(EXT2):c.2041G>C (p.Ala681Pro)
|
rs771936445
|
0.00001
|
NM_207122.2(EXT2):c.211C>T (p.Leu71=)
|
rs766800368
|
0.00001
|
NM_207122.2(EXT2):c.2136C>T (p.Phe712=)
|
rs575302404
|
0.00001
|
NM_207122.2(EXT2):c.219C>T (p.Ala73=)
|
rs774620075
|
0.00001
|
NM_207122.2(EXT2):c.238C>T (p.Arg80Trp)
|
rs755625888
|
0.00001
|
NM_207122.2(EXT2):c.246T>C (p.Asp82=)
|
rs559280035
|
0.00001
|
NM_207122.2(EXT2):c.252T>C (p.Ser84=)
|
rs1463030663
|
0.00001
|
NM_207122.2(EXT2):c.266C>T (p.Thr89Met)
|
rs143048174
|
0.00001
|
NM_207122.2(EXT2):c.267G>A (p.Thr89=)
|
rs1386417457
|
0.00001
|
NM_207122.2(EXT2):c.296A>T (p.Asn99Ile)
|
rs147587178
|
0.00001
|
NM_207122.2(EXT2):c.408C>T (p.Ala136=)
|
rs777178095
|
0.00001
|
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn)
|
rs1038984851
|
0.00001
|
NM_207122.2(EXT2):c.502A>G (p.Lys168Glu)
|
rs762533540
|
0.00001
|
NM_207122.2(EXT2):c.537-19A>G
|
rs764148237
|
0.00001
|
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser)
|
rs550761834
|
0.00001
|
NM_207122.2(EXT2):c.646G>A (p.Gly216Ser)
|
rs1208541215
|
0.00001
|
NM_207122.2(EXT2):c.656C>T (p.Thr219Met)
|
rs202208526
|
0.00001
|
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp)
|
rs201062014
|
0.00001
|
NM_207122.2(EXT2):c.678C>T (p.Tyr226=)
|
rs1406801697
|
0.00001
|
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter)
|
rs754533434
|
0.00001
|
NM_207122.2(EXT2):c.744-11T>A
|
rs754484381
|
0.00001
|
NM_207122.2(EXT2):c.753A>G (p.Gln251=)
|
rs1310756667
|
0.00001
|
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser)
|
rs745738318
|
0.00001
|
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys)
|
rs375468766
|
0.00001
|
NM_207122.2(EXT2):c.936A>G (p.Leu312=)
|
rs760218623
|
0.00001
|
NM_207122.2(EXT2):c.940-9T>C
|
rs374555467
|
0.00001
|
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln)
|
rs762292898
|
0.00001
|
NM_207122.2(EXT2):c.997G>A (p.Asp333Asn)
|
rs1182974716
|
0.00001
|
NM_207122.2(EXT2):c.9G>A (p.Ala3=)
|
rs774142487
|
0.00001
|
NC_000005.10:g.(?_179836426)_(179836603_?)del
|
|
|
NC_000005.9:g.(?_178413111)_(179263593_?)dup
|
|
|
NC_000005.9:g.(?_178770758)_(179263603_?)dup
|
|
|
NC_000005.9:g.(?_179260012)_(179260802_?)del
|
|
|
NC_000005.9:g.(?_179260567)_(179263593_?)dup
|
|
|
NC_000005.9:g.(?_179263416)_(179263593_?)del
|
|
|
NC_000008.10:g.(?_117647788)_(120797526_?)dup
|
|
|
NC_000008.10:g.(?_118803587)_(118819524_?)del
|
|
|
NC_000008.10:g.(?_118811951)_(118812156_?)del
|
|
|
NC_000008.10:g.(?_118811951)_(118834836_?)del
|
|
|
NC_000008.10:g.(?_118811951)_(118849460_?)del
|
|
|
NC_000008.10:g.(?_118816941)_(118817152_?)del
|
|
|
NC_000008.10:g.(?_118819436)_(118825220_?)del
|
|
|
NC_000008.10:g.(?_118819436)_(118847810_?)del
|
|
|
NC_000008.10:g.(?_118819446)_(119123285_?)dup
|
|
|
NC_000008.10:g.(?_118825091)_(118825220_?)del
|
|
|
NC_000008.10:g.(?_118825208)_119035925del
|
|
|
NC_000008.10:g.(?_118830654)_(118849460_?)del
|
|
|
NC_000008.10:g.(?_118831895)_(118834856_?)del
|
|
|
NC_000008.10:g.(?_118842449)_(118842608_?)del
|
|
|
NC_000008.10:g.(?_118847663)_(118849460_?)del
|
|
|
NC_000008.10:g.(?_119122304)_(119123285_?)del
|
|
|
NC_000008.11:g.(?_117799692)_(117799917_?)del
|
|
|
NC_000008.11:g.(?_117799692)_(118111066_?)del
|
|
|
NC_000008.11:g.(?_117807197)_(117807397_?)del
|
|
|
NC_000008.11:g.(?_117812852)_(117837221_?)dup
|
|
|
NC_000008.11:g.(?_117830210)_(117837221_?)del
|
|
|
NC_000008.11:g.(?_118110065)_(118111066_?)del
|
|
|
NC_000008.11:g.(?_118110065)_(118111066_?)dup
|
|
|
NC_000011.10:g.(?_44096233)_(44130158_?)del
|
|
|
NC_000011.10:g.(?_44096233)_(44244388_?)del
|
|
|
NC_000011.10:g.(?_44107663)_(44108268_?)del
|
|
|
NC_000011.10:g.(?_44107663)_(44130158_?)del
|
|
|
NC_000011.10:g.(?_44124769)_(44126975_?)del
|
|
|
NC_000011.10:g.(?_44144227)_(44198038_?)del
|
|
|
NC_000011.10:g.(?_44171591)_(44171762_?)del
|
|
|
NC_000011.10:g.(?_44171591)_(44206979_?)del
|
|
|
NC_000011.10:g.(?_44206773)_(44206979_?)del
|
|
|
NC_000011.10:g.(?_44206793)_(44206959_?)del
|
|
|
NC_000011.10:g.44109194del
|
|
|
NC_000011.9:g.(?_44129235)_(44129808_?)del
|
|
|
NC_000011.9:g.(?_44129235)_(44151698_?)del
|
|
|
NC_000011.9:g.(?_44219359)_(44228529_?)del
|
|
|
NC_000011.9:g.(?_46880534)_(46893204_?)dup
|
|
|
NC_000011.9:g.(?_46880534)_(46918565_?)dup
|
|
|
NC_000011.9:g.(?_58916346)_(64972349_?)dup
|
|
|
NC_000011.9:g.(?_63974837)_(63990964_?)dup
|
|
|
NM_000127.2(EXT1):c.1418del
|
rs1811893467
|
|
NM_000127.3(EXT1):c.1000T>C (p.Cys334Arg)
|
rs1587004341
|
|
NM_000127.3(EXT1):c.1010C>G (p.Pro337Arg)
|
rs1812200901
|
|
NM_000127.3(EXT1):c.1013G>A (p.Arg338His)
|
rs1288618931
|
|
NM_000127.3(EXT1):c.1015G>A (p.Gly339Ser)
|
rs2129791225
|
|
NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp)
|
rs119103288
|
|
NM_000127.3(EXT1):c.1016G>T (p.Gly339Val)
|
|
|
NM_000127.3(EXT1):c.1018C>G (p.Arg340Gly)
|
rs119103290
|
|
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys)
|
rs119103290
|
|
NM_000127.3(EXT1):c.1019G>A (p.Arg340His)
|
rs119103287
|
|
NM_000127.3(EXT1):c.1019G>T (p.Arg340Leu)
|
rs119103287
|
|
NM_000127.3(EXT1):c.1021A>G (p.Arg341Gly)
|
rs1554580149
|
|
NM_000127.3(EXT1):c.1021A>T (p.Arg341Trp)
|
rs1554580149
|
|
NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg)
|
rs978347552
|
|
NM_000127.3(EXT1):c.1028G>A (p.Gly343Glu)
|
rs1206600641
|
|
NM_000127.3(EXT1):c.1036A>G (p.Arg346Gly)
|
rs1554580147
|
|
NM_000127.3(EXT1):c.1037G>T (p.Arg346Ile)
|
rs1812200035
|
|
NM_000127.3(EXT1):c.1038A>C (p.Arg346Ser)
|
|
|
NM_000127.3(EXT1):c.1038A>G (p.Arg346=)
|
rs2129791072
|
|
NM_000127.3(EXT1):c.103del (p.Ser35fs)
|
rs1563659821
|
|
NM_000127.3(EXT1):c.1046_1047del (p.Glu349fs)
|
|
|
NM_000127.3(EXT1):c.1050T>G (p.Ala350=)
|
rs751521449
|
|
NM_000127.3(EXT1):c.1051T>G (p.Leu351Val)
|
|
|
NM_000127.3(EXT1):c.1052dup (p.Leu351fs)
|
rs2129790994
|
|
NM_000127.3(EXT1):c.1053_1056+1del
|
rs1563575654
|
|
NM_000127.3(EXT1):c.1056+1G>A
|
rs886039354
|
|
NM_000127.3(EXT1):c.1056+1G>T
|
rs886039354
|
|
NM_000127.3(EXT1):c.1056+2T>A
|
rs1554580142
|
|
NM_000127.3(EXT1):c.1056+3A>C
|
rs1554580140
|
|
NM_000127.3(EXT1):c.1056+4A>G
|
|
|
NM_000127.3(EXT1):c.1056G>T (p.Gln352His)
|
rs1812199676
|
|
NM_000127.3(EXT1):c.1057-12dup
|
rs775982542
|
|
NM_000127.3(EXT1):c.1057-1G>C
|
rs1587003661
|
|
NM_000127.3(EXT1):c.1057-2A>G
|
rs1587003662
|
|
NM_000127.3(EXT1):c.1057-2A>T
|
rs1587003662
|
|
NM_000127.3(EXT1):c.1057-3C>G
|
|
|
NM_000127.3(EXT1):c.1057-8T>C
|
|
|
NM_000127.3(EXT1):c.1063T>C (p.Cys355Arg)
|
rs1587003655
|
|
NM_000127.3(EXT1):c.1064G>A (p.Cys355Tyr)
|
rs2129786671
|
|
NM_000127.3(EXT1):c.1064_1065delinsAT (p.Cys355Tyr)
|
|
|
NM_000127.3(EXT1):c.1065C>A (p.Cys355Ter)
|
rs11546829
|
|
NM_000127.3(EXT1):c.1070C>G (p.Pro357Arg)
|
rs1131691337
|
|
NM_000127.3(EXT1):c.1073dup (p.Met359fs)
|
rs2129786583
|
|
NM_000127.3(EXT1):c.1076dup (p.Met359fs)
|
rs2129786574
|
|
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter)
|
|
|
NM_000127.3(EXT1):c.1091G>T (p.Trp364Leu)
|
|
|
NM_000127.3(EXT1):c.1093G>A (p.Glu365Lys)
|
|
|
NM_000127.3(EXT1):c.1101A>G (p.Pro367=)
|
|
|
NM_000127.3(EXT1):c.1108G>T (p.Glu370Ter)
|
rs1812174128
|
|
NM_000127.3(EXT1):c.111del (p.Glu38fs)
|
rs1586280235
|
|
NM_000127.3(EXT1):c.1122G>A (p.Trp374Ter)
|
rs2129786370
|
|
NM_000127.3(EXT1):c.1126C>T (p.Gln376Ter)
|
rs1812173838
|
|
NM_000127.3(EXT1):c.1126del (p.Gln376fs)
|
rs2129786342
|
|
NM_000127.3(EXT1):c.1129G>A (p.Ala377Thr)
|
rs1812173796
|
|
NM_000127.3(EXT1):c.112GAA[1] (p.Glu39del)
|
rs1782100732
|
|
NM_000127.3(EXT1):c.1134C>T (p.Ala378=)
|
|
|
NM_000127.3(EXT1):c.1137C>T (p.Val379=)
|
|
|
NM_000127.3(EXT1):c.1138A>G (p.Ile380Val)
|
rs747020325
|
|
NM_000127.3(EXT1):c.1144G>A (p.Asp382Asn)
|
|
|
NM_000127.3(EXT1):c.1151_1152del (p.Arg384fs)
|
rs1812173037
|
|
NM_000127.3(EXT1):c.1157T>G (p.Leu386Ter)
|
rs2129786157
|
|
NM_000127.3(EXT1):c.115G>T (p.Glu39Ter)
|
rs1817891356
|
|
NM_000127.3(EXT1):c.115del (p.Glu39fs)
|
rs1586280217
|
|
NM_000127.3(EXT1):c.1162C>T (p.Gln388Ter)
|
rs2129786122
|
|
NM_000127.3(EXT1):c.1164+15G>A
|
|
|
NM_000127.3(EXT1):c.1164+1G>A
|
rs2129786098
|
|
NM_000127.3(EXT1):c.1164+1G>T
|
|
|
NM_000127.3(EXT1):c.1164+3A>G
|
|
|
NM_000127.3(EXT1):c.1165-1G>C
|
|
|
NM_000127.3(EXT1):c.1165-2A>C
|
|
|
NM_000127.3(EXT1):c.1165-2A>G
|
|
|
NM_000127.3(EXT1):c.1165-3C>G
|
rs1812078461
|
|
NM_000127.3(EXT1):c.1165-4A>G
|
|
|
NM_000127.3(EXT1):c.1165-6T>G
|
rs1812078551
|
|
NM_000127.3(EXT1):c.1167del (p.Pro390fs)
|
rs1812078315
|
|
NM_000127.3(EXT1):c.1175C>T (p.Thr392Ile)
|
|
|
NM_000127.3(EXT1):c.1177A>G (p.Ile393Val)
|
|
|
NM_000127.3(EXT1):c.1180A>G (p.Arg394Gly)
|
|
|
NM_000127.3(EXT1):c.1184C>G (p.Ser395Cys)
|
|
|
NM_000127.3(EXT1):c.1186A>G (p.Ile396Val)
|
|
|
NM_000127.3(EXT1):c.1189C>A (p.His397Asn)
|
|
|
NM_000127.3(EXT1):c.1190A>G (p.His397Arg)
|
|
|
NM_000127.3(EXT1):c.1192C>T (p.Gln398Ter)
|
rs561006425
|
|
NM_000127.3(EXT1):c.1193del (p.Gln398fs)
|
rs2129772368
|
|
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)
|
|
|
NM_000127.3(EXT1):c.119A>G (p.His40Arg)
|
|
|
NM_000127.3(EXT1):c.1214G>C (p.Arg405Thr)
|
rs1812077443
|
|
NM_000127.3(EXT1):c.1215_1218del (p.Arg405fs)
|
rs1369118661
|
|
NM_000127.3(EXT1):c.1217del (p.Gln406fs)
|
rs2129772259
|
|
NM_000127.3(EXT1):c.1219C>T (p.Gln407Ter)
|
rs1812077342
|
|
NM_000127.3(EXT1):c.1220del (p.Gln407fs)
|
rs1812077295
|
|
NM_000127.3(EXT1):c.1225C>A (p.Gln409Lys)
|
rs755694640
|
|
NM_000127.3(EXT1):c.1231T>C (p.Leu411=)
|
|
|
NM_000127.3(EXT1):c.1234del (p.Trp412fs)
|
rs1812076996
|
|
NM_000127.3(EXT1):c.1235_1236delinsC (p.Trp412fs)
|
rs1812076915
|
|
NM_000127.3(EXT1):c.1236G>A (p.Trp412Ter)
|
rs1587001428
|
|
NM_000127.3(EXT1):c.1239G>A (p.Glu413=)
|
rs756701753
|
|
NM_000127.3(EXT1):c.1244A>G (p.Tyr415Cys)
|
|
|
NM_000127.3(EXT1):c.1249del (p.Ser417fs)
|
|
|
NM_000127.3(EXT1):c.124_962+1815del
|
|
|
NM_000127.3(EXT1):c.1263G>A (p.Lys421=)
|
rs2129772013
|
|
NM_000127.3(EXT1):c.1269A>G (p.Val423=)
|
|
|
NM_000127.3(EXT1):c.1271T>G (p.Leu424Ter)
|
|
|
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro)
|
rs1812075737
|
|
NM_000127.3(EXT1):c.1284+12del
|
|
|
NM_000127.3(EXT1):c.1284+20T>C
|
|
|
NM_000127.3(EXT1):c.1284+2dup
|
|
|
NM_000127.3(EXT1):c.1284+7G>A
|
|
|
NM_000127.3(EXT1):c.1285-1G>T
|
rs1811943967
|
|
NM_000127.3(EXT1):c.1285-6T>G
|
|
|
NM_000127.3(EXT1):c.1288A>T (p.Ile430Phe)
|
rs2129749685
|
|
NM_000127.3(EXT1):c.1291C>T (p.Gln431Ter)
|
rs1811943921
|
|
NM_000127.3(EXT1):c.1296C>G (p.Asp432Glu)
|
|
|
NM_000127.3(EXT1):c.1296del (p.Asp432fs)
|
|
|
NM_000127.3(EXT1):c.1297A>C (p.Arg433=)
|
rs1037557280
|
|
NM_000127.3(EXT1):c.129G>T (p.Arg43Ser)
|
|
|
NM_000127.3(EXT1):c.129del (p.Asn44fs)
|
rs1817890492
|
|
NM_000127.3(EXT1):c.1307dup (p.His437fs)
|
|
|
NM_000127.3(EXT1):c.1309C>G (p.His437Asp)
|
|
|
NM_000127.3(EXT1):c.1312A>G (p.Ile438Val)
|
|
|
NM_000127.3(EXT1):c.1314A>G (p.Ile438Met)
|
|
|
NM_000127.3(EXT1):c.1315_1337dup (p.Asn446_Lys447insHisValThrValTer)
|
rs1563571296
|
|
NM_000127.3(EXT1):c.1316C>A (p.Ser439Ter)
|
rs1563571318
|
|
NM_000127.3(EXT1):c.1316C>G (p.Ser439Ter)
|
rs1563571318
|
|
NM_000127.3(EXT1):c.1317dup (p.Arg440fs)
|
|
|
NM_000127.3(EXT1):c.1318C>T (p.Arg440Cys)
|
|
|
NM_000127.3(EXT1):c.1319G>C (p.Arg440Pro)
|
|
|
NM_000127.3(EXT1):c.1320dup (p.Asn441Ter)
|
rs1811942900
|
|
NM_000127.3(EXT1):c.1321A>G (p.Asn441Asp)
|
|
|
NM_000127.3(EXT1):c.1332A>G (p.Ile444Met)
|
|
|
NM_000127.3(EXT1):c.1335G>A (p.Trp445Ter)
|
rs1811942574
|
|
NM_000127.3(EXT1):c.1349G>A (p.Gly450Glu)
|
rs1811942159
|
|
NM_000127.3(EXT1):c.1350del (p.Gly451fs)
|
rs1811942117
|
|
NM_000127.3(EXT1):c.1352G>A (p.Gly451Glu)
|
rs1430395411
|
|
NM_000127.3(EXT1):c.1368A>G (p.Pro456=)
|
|
|
NM_000127.3(EXT1):c.1383T>A (p.Tyr461Ter)
|
|
|
NM_000127.3(EXT1):c.1383T>C (p.Tyr461=)
|
|
|
NM_000127.3(EXT1):c.1384_1388del (p.Leu462fs)
|
rs2129749144
|
|
NM_000127.3(EXT1):c.1388G>T (p.Gly463Val)
|
|
|
NM_000127.3(EXT1):c.138G>T (p.Leu46Phe)
|
|
|
NM_000127.3(EXT1):c.1391A>G (p.Asp464Gly)
|
rs2129749125
|
|
NM_000127.3(EXT1):c.1400A>C (p.Tyr467Ser)
|
rs2129749069
|
|
NM_000127.3(EXT1):c.1400dup (p.Tyr467Ter)
|
rs1811941012
|
|
NM_000127.3(EXT1):c.1401C>G (p.Tyr467Ter)
|
rs1811940928
|
|
NM_000127.3(EXT1):c.1401del (p.Tyr468fs)
|
rs1554579004
|
|
NM_000127.3(EXT1):c.1404C>G (p.Tyr468Ter)
|
rs1811940837
|
|
NM_000127.3(EXT1):c.1405del (p.Tyr469fs)
|
rs1811940788
|
|
NM_000127.3(EXT1):c.1407T>G (p.Tyr469Ter)
|
|
|
NM_000127.3(EXT1):c.1408G>A (p.Ala470Thr)
|
rs746738537
|
|
NM_000127.3(EXT1):c.1417+16C>T
|
|
|
NM_000127.3(EXT1):c.1417+19G>C
|
|
|
NM_000127.3(EXT1):c.1417+1G>A
|
rs1586997796
|
|
NM_000127.3(EXT1):c.1417+1G>T
|
rs1586997796
|
|
NM_000127.3(EXT1):c.1417+1del
|
rs2129748931
|
|
NM_000127.3(EXT1):c.1417+2T>A
|
rs1554578992
|
|
NM_000127.3(EXT1):c.1417+2dup
|
|
|
NM_000127.3(EXT1):c.1417+6T>C
|
rs1811940247
|
|
NM_000127.3(EXT1):c.1418-13C>T
|
|
|
NM_000127.3(EXT1):c.1418-13_1418-11del
|
rs1203626052
|
|
NM_000127.3(EXT1):c.1418-1G>A
|
rs2129741436
|
|
NM_000127.3(EXT1):c.1418-20T>C
|
rs376258820
|
|
NM_000127.3(EXT1):c.1418-2A>G
|
rs1554578802
|
|
NM_000127.3(EXT1):c.1418-7A>G
|
|
|
NM_000127.3(EXT1):c.1418-8T>G
|
|
|
NM_000127.3(EXT1):c.141C>T (p.His47=)
|
|
|
NM_000127.3(EXT1):c.1421T>A (p.Leu474Ter)
|
rs1811893325
|
|
NM_000127.3(EXT1):c.1421T>G (p.Leu474Ter)
|
rs1811893325
|
|
NM_000127.3(EXT1):c.1424del (p.Lys475fs)
|
|
|
NM_000127.3(EXT1):c.1425G>A (p.Lys475=)
|
rs1442814688
|
|
NM_000127.3(EXT1):c.1429C>G (p.Pro477Ala)
|
|
|
NM_000127.3(EXT1):c.1430C>T (p.Pro477Leu)
|
|
|
NM_000127.3(EXT1):c.1431del (p.Ser478fs)
|
rs1554578798
|
|
NM_000127.3(EXT1):c.1431dup (p.Ser478fs)
|
rs1554578798
|
|
NM_000127.3(EXT1):c.1437del (p.Lys479fs)
|
|
|
NM_000127.3(EXT1):c.1458G>A (p.Ala486=)
|
rs765275156
|
|
NM_000127.3(EXT1):c.1463C>A (p.Thr488Asn)
|
rs759514310
|
|
NM_000127.3(EXT1):c.1465C>A (p.Pro489Thr)
|
|
|
NM_000127.3(EXT1):c.1468del (p.Leu490fs)
|
rs886039355
|
|
NM_000127.3(EXT1):c.1468dup (p.Leu490fs)
|
rs886039355
|
|
NM_000127.3(EXT1):c.1469del (p.Leu490fs)
|
rs886039356
|
|
NM_000127.3(EXT1):c.146C>G (p.Pro49Arg)
|
|
|
NM_000127.3(EXT1):c.1477C>T (p.Gln493Ter)
|
rs1811890821
|
|
NM_000127.3(EXT1):c.147C>T (p.Pro49=)
|
rs1248782526
|
|
NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)
|
|
|
NM_000127.3(EXT1):c.1503C>T (p.Leu501=)
|
rs146108006
|
|
NM_000127.3(EXT1):c.1508_1512del (p.Ala503fs)
|
|
|
NM_000127.3(EXT1):c.1515C>A (p.Ala505=)
|
rs2129740778
|
|
NM_000127.3(EXT1):c.1522C>T (p.Gln508Ter)
|
rs2129740737
|
|
NM_000127.3(EXT1):c.1522del (p.Gln508fs)
|
rs2129740749
|
|
NM_000127.3(EXT1):c.1528T>C (p.Cys510Arg)
|
|
|
NM_000127.3(EXT1):c.1534C>T (p.Gln512Ter)
|
rs1383256196
|
|
NM_000127.3(EXT1):c.1536+11A>G
|
|
|
NM_000127.3(EXT1):c.1536+1G>A
|
rs1811889441
|
|
NM_000127.3(EXT1):c.1536+1G>C
|
rs1811889441
|
|
NM_000127.3(EXT1):c.1536+3G>A
|
rs2129740657
|
|
NM_000127.3(EXT1):c.1536+5G>C
|
|
|
NM_000127.3(EXT1):c.1536G>C (p.Gln512His)
|
rs1811889486
|
|
NM_000127.3(EXT1):c.1537-16G>A
|
|
|
NM_000127.3(EXT1):c.1537-1G>C
|
rs2129736985
|
|
NM_000127.3(EXT1):c.1537-2A>G
|
rs1554578710
|
|
NM_000127.3(EXT1):c.1537A>G (p.Ile513Val)
|
|
|
NM_000127.3(EXT1):c.153G>A (p.Pro51=)
|
|
|
NM_000127.3(EXT1):c.1543G>A (p.Val515Ile)
|
|
|
NM_000127.3(EXT1):c.154G>T (p.Asp52Tyr)
|
|
|
NM_000127.3(EXT1):c.1550G>A (p.Trp517Ter)
|
|
|
NM_000127.3(EXT1):c.1567del (p.Leu523fs)
|
rs1811864784
|
|
NM_000127.3(EXT1):c.1571C>T (p.Pro524Leu)
|
|
|
NM_000127.3(EXT1):c.1576A>T (p.Lys526Ter)
|
rs1563569983
|
|
NM_000127.3(EXT1):c.157C>A (p.His53Asn)
|
|
|
NM_000127.3(EXT1):c.1586G>A (p.Trp529Ter)
|
|
|
NM_000127.3(EXT1):c.1598C>T (p.Ala533Val)
|
|
|
NM_000127.3(EXT1):c.1599T>C (p.Ala533=)
|
|
|
NM_000127.3(EXT1):c.15dup (p.Arg6fs)
|
rs759834555
|
|
NM_000127.3(EXT1):c.1611C>T (p.Val537=)
|
|
|
NM_000127.3(EXT1):c.1616T>C (p.Ile539Thr)
|
|
|
NM_000127.3(EXT1):c.1617dup (p.Glu540Ter)
|
rs1811863055
|
|
NM_000127.3(EXT1):c.1624G>T (p.Glu542Ter)
|
rs2129736434
|
|
NM_000127.3(EXT1):c.1632+10G>A
|
|
|
NM_000127.3(EXT1):c.1632+16G>A
|
|
|
NM_000127.3(EXT1):c.1632+16G>C
|
|
|
NM_000127.3(EXT1):c.1632+1dup
|
rs1811862827
|
|
NM_000127.3(EXT1):c.1632+2T>G
|
|
|
NM_000127.3(EXT1):c.1632+9C>A
|
rs368634215
|
|
NM_000127.3(EXT1):c.1633-14C>G
|
|
|
NM_000127.3(EXT1):c.1633-15T>A
|
|
|
NM_000127.3(EXT1):c.1633-16T>C
|
|
|
NM_000127.3(EXT1):c.1633-1G>A
|
rs1823354043
|
|
NM_000127.3(EXT1):c.1633-1G>T
|
rs1823354043
|
|
NM_000127.3(EXT1):c.1633-34_1670del
|
rs1554657940
|
|
NM_000127.3(EXT1):c.1635T>G (p.Val545=)
|
|
|
NM_000127.3(EXT1):c.1642del (p.Ser548fs)
|
|
|
NM_000127.3(EXT1):c.1656del (p.Tyr553fs)
|
rs1823353269
|
|
NM_000127.3(EXT1):c.1658A>G (p.Tyr553Cys)
|
|
|
NM_000127.3(EXT1):c.1658dup (p.Tyr553Ter)
|
rs2129720355
|
|
NM_000127.3(EXT1):c.1659C>G (p.Tyr553Ter)
|
rs757115396
|
|
NM_000127.3(EXT1):c.1659del (p.Pro552_Tyr553insTer)
|
rs1823353089
|
|
NM_000127.3(EXT1):c.1660G>A (p.Asp554Asn)
|
|
|
NM_000127.3(EXT1):c.1660G>T (p.Asp554Tyr)
|
rs751582814
|
|
NM_000127.3(EXT1):c.1664A>T (p.Asn555Ile)
|
|
|
NM_000127.3(EXT1):c.1666dup (p.Ile556fs)
|
|
|
NM_000127.3(EXT1):c.1668_1680dup (p.Val561fs)
|
|
|
NM_000127.3(EXT1):c.166C>G (p.Pro56Ala)
|
rs368004125
|
|
NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)
|
|
|
NM_000127.3(EXT1):c.1670_1687del (p.Ile557_Leu562del)
|
|
|
NM_000127.3(EXT1):c.1677C>T (p.Asp559=)
|
rs752594306
|
|
NM_000127.3(EXT1):c.1677_1678insTGTCATCACAGAC (p.Ala560fs)
|
rs1823352329
|
|
NM_000127.3(EXT1):c.1677_1681del (p.Val561fs)
|
rs1823351882
|
|
NM_000127.3(EXT1):c.1678_1679del (p.Ala560fs)
|
rs1823352107
|
|
NM_000127.3(EXT1):c.1678_1679dup (p.Val561fs)
|
rs1823352107
|
|
NM_000127.3(EXT1):c.1685T>C (p.Leu562Pro)
|
|
|
NM_000127.3(EXT1):c.1685_1701dup (p.Thr568fs)
|
rs1554657927
|
|
NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)
|
|
|
NM_000127.3(EXT1):c.1692dup (p.Asp565Ter)
|
rs2129720016
|
|
NM_000127.3(EXT1):c.1696G>T (p.Glu566Ter)
|
rs1586993117
|
|
NM_000127.3(EXT1):c.16C>G (p.Arg6Gly)
|
|
|
NM_000127.3(EXT1):c.1718_1719del (p.Thr573fs)
|
rs1823350888
|
|
NM_000127.3(EXT1):c.1722+11A>G
|
|
|
NM_000127.3(EXT1):c.1722+1G>A
|
|
|
NM_000127.3(EXT1):c.1722+1G>T
|
rs1823350857
|
|
NM_000127.3(EXT1):c.1722+2T>G
|
rs1823350795
|
|
NM_000127.3(EXT1):c.1722+2dup
|
|
|
NM_000127.3(EXT1):c.1723-17T>A
|
rs2129702062
|
|
NM_000127.3(EXT1):c.1723-2A>C
|
rs1823255835
|
|
NM_000127.3(EXT1):c.1723-2A>T
|
rs1823255835
|
|
NM_000127.3(EXT1):c.1731C>T (p.Phe577=)
|
|
|
NM_000127.3(EXT1):c.1745G>A (p.Trp582Ter)
|
rs1586990402
|
|
NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter)
|
rs1586990398
|
|
NM_000127.3(EXT1):c.1762dup (p.Arg588fs)
|
rs2129701760
|
|
NM_000127.3(EXT1):c.1767dup (p.Val590fs)
|
|
|
NM_000127.3(EXT1):c.176del (p.Pro59fs)
|
rs1817889027
|
|
NM_000127.3(EXT1):c.1770_1774del (p.Gly591fs)
|
rs1823254431
|
|
NM_000127.3(EXT1):c.1771G>C (p.Gly591Arg)
|
|
|
NM_000127.3(EXT1):c.1773del (p.Tyr592fs)
|
rs1586990361
|
|
NM_000127.3(EXT1):c.1776C>A (p.Tyr592Ter)
|
rs1823254238
|
|
NM_000127.3(EXT1):c.1779del (p.Ala594fs)
|
rs2129701642
|
|
NM_000127.3(EXT1):c.1784_1785del (p.Arg595fs)
|
|
|
NM_000127.3(EXT1):c.178G>T (p.Asp60Tyr)
|
rs2130045112
|
|
NM_000127.3(EXT1):c.1796G>A (p.Trp599Ter)
|
rs1823253698
|
|
NM_000127.3(EXT1):c.1797G>A (p.Trp599Ter)
|
rs1718310043
|
|
NM_000127.3(EXT1):c.17G>C (p.Arg6Pro)
|
|
|
NM_000127.3(EXT1):c.1801A>G (p.Asn601Asp)
|
|
|
NM_000127.3(EXT1):c.1805_1806del (p.Asn601_Ser602insTer)
|
|
|
NM_000127.3(EXT1):c.1806dup (p.Lys603Ter)
|
rs1823253516
|
|
NM_000127.3(EXT1):c.1807A>T (p.Lys603Ter)
|
|
|
NM_000127.3(EXT1):c.180C>A (p.Asp60Glu)
|
|
|
NM_000127.3(EXT1):c.1810G>T (p.Glu604Ter)
|
rs1554657437
|
|
NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln)
|
rs755747479
|
|
NM_000127.3(EXT1):c.1817G>A (p.Trp606Ter)
|
rs1586990317
|
|
NM_000127.3(EXT1):c.1818G>A (p.Trp606Ter)
|
rs1823253080
|
|
NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter)
|
rs1823253013
|
|
NM_000127.3(EXT1):c.1819_1820del (p.Gly607fs)
|
|
|
NM_000127.3(EXT1):c.1829C>A (p.Ser610Ter)
|
rs2129701251
|
|
NM_000127.3(EXT1):c.1835G>A (p.Trp612Ter)
|
|
|
NM_000127.3(EXT1):c.1836G>A (p.Trp612Ter)
|
rs2129701239
|
|
NM_000127.3(EXT1):c.1842C>T (p.Asn614=)
|
|
|
NM_000127.3(EXT1):c.1844dup (p.Asp615fs)
|
|
|
NM_000127.3(EXT1):c.1845C>T (p.Asp615=)
|
rs2129701116
|
|
NM_000127.3(EXT1):c.1845del (p.Tyr616fs)
|
rs2129701119
|
|
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter)
|
rs1563873580
|
|
NM_000127.3(EXT1):c.1848C>T (p.Tyr616=)
|
|
|
NM_000127.3(EXT1):c.1852A>G (p.Met618Val)
|
|
|
NM_000127.3(EXT1):c.1867G>A (p.Ala623Thr)
|
rs1823251698
|
|
NM_000127.3(EXT1):c.1872T>C (p.Ala624=)
|
rs1823251633
|
|
NM_000127.3(EXT1):c.1878C>G (p.Tyr626Ter)
|
rs886039357
|
|
NM_000127.3(EXT1):c.1880A>G (p.His627Arg)
|
|
|
NM_000127.3(EXT1):c.1882A>T (p.Lys628Ter)
|
rs2129700894
|
|
NM_000127.3(EXT1):c.1883+14A>T
|
|
|
NM_000127.3(EXT1):c.1883+1G>A
|
rs1823251265
|
|
NM_000127.3(EXT1):c.1883+1G>T
|
rs1823251265
|
|
NM_000127.3(EXT1):c.1883+2T>C
|
rs1823251224
|
|
NM_000127.3(EXT1):c.1883+6del
|
|
|
NM_000127.3(EXT1):c.1883A>G (p.Lys628Arg)
|
|
|
NM_000127.3(EXT1):c.1884-1G>A
|
rs1131691623
|
|
NM_000127.3(EXT1):c.1884-1G>T
|
rs1131691623
|
|
NM_000127.3(EXT1):c.1885T>C (p.Tyr629His)
|
|
|
NM_000127.3(EXT1):c.1885TAT[1] (p.Tyr630del)
|
rs1823215172
|
|
NM_000127.3(EXT1):c.1885dup (p.Tyr629fs)
|
rs1823215251
|
|
NM_000127.3(EXT1):c.1887T>C (p.Tyr629=)
|
rs1823215215
|
|
NM_000127.3(EXT1):c.1888dup (p.Tyr630fs)
|
|
|
NM_000127.3(EXT1):c.188G>A (p.Arg63His)
|
|
|
NM_000127.3(EXT1):c.188G>T (p.Arg63Leu)
|
rs187891947
|
|
NM_000127.3(EXT1):c.18C>G (p.Arg6=)
|
rs1199624139
|
|
NM_000127.3(EXT1):c.1900_1901insGG (p.Tyr634fs)
|
|
|
NM_000127.3(EXT1):c.1902C>G (p.Tyr634Ter)
|
rs2129694149
|
|
NM_000127.3(EXT1):c.1906del (p.His636fs)
|
rs2129694129
|
|
NM_000127.3(EXT1):c.1910A>G (p.Tyr637Cys)
|
|
|
NM_000127.3(EXT1):c.1911C>A (p.Tyr637Ter)
|
rs1586989220
|
|
NM_000127.3(EXT1):c.1925del (p.Leu642fs)
|
rs1823214768
|
|
NM_000127.3(EXT1):c.1936G>T (p.Val646Leu)
|
rs1823214606
|
|
NM_000127.3(EXT1):c.1944A>G (p.Gln648=)
|
|
|
NM_000127.3(EXT1):c.1944del (p.Gln648fs)
|
rs1586989202
|
|
NM_000127.3(EXT1):c.1945T>C (p.Leu649=)
|
|
|
NM_000127.3(EXT1):c.1948G>A (p.Ala650Thr)
|
|
|
NM_000127.3(EXT1):c.194del (p.Phe65fs)
|
|
|
NM_000127.3(EXT1):c.1965del (p.Leu656fs)
|
rs1823213816
|
|
NM_000127.3(EXT1):c.1971G>C (p.Met657Ile)
|
|
|
NM_000127.3(EXT1):c.1971del (p.Met657fs)
|
rs1823213767
|
|
NM_000127.3(EXT1):c.1983G>A (p.Val661=)
|
rs962526270
|
|
NM_000127.3(EXT1):c.1987G>C (p.Ala663Pro)
|
|
|
NM_000127.3(EXT1):c.1998A>G (p.Lys666=)
|
|
|
NM_000127.3(EXT1):c.1998dup (p.Leu667fs)
|
rs2129693616
|
|
NM_000127.3(EXT1):c.19T>G (p.Tyr7Asp)
|
rs2130046079
|
|
NM_000127.3(EXT1):c.1A>C (p.Met1Leu)
|
|
|
NM_000127.3(EXT1):c.2000T>A (p.Leu667Ter)
|
rs1131692020
|
|
NM_000127.3(EXT1):c.2004del (p.Pro669fs)
|
rs1563872934
|
|
NM_000127.3(EXT1):c.200C>A (p.Pro67His)
|
rs371817652
|
|
NM_000127.3(EXT1):c.200C>G (p.Pro67Arg)
|
rs371817652
|
|
NM_000127.3(EXT1):c.2016G>A (p.Val672=)
|
|
|
NM_000127.3(EXT1):c.2026A>T (p.Lys676Ter)
|
rs1823212809
|
|
NM_000127.3(EXT1):c.2029C>T (p.Gln677Ter)
|
rs1823212774
|
|
NM_000127.3(EXT1):c.203G>A (p.Trp68Ter)
|
rs2130044984
|
|
NM_000127.3(EXT1):c.2043A>T (p.Thr681=)
|
rs746481404
|
|
NM_000127.3(EXT1):c.2044_2047del (p.Met682fs)
|
rs1823212594
|
|
NM_000127.3(EXT1):c.2053C>T (p.Gln685Ter)
|
rs1823212414
|
|
NM_000127.3(EXT1):c.2055+10G>A
|
|
|
NM_000127.3(EXT1):c.2055+20del
|
|
|
NM_000127.3(EXT1):c.2055+5G>A
|
rs1823212383
|
|
NM_000127.3(EXT1):c.2056-14C>G
|
|
|
NM_000127.3(EXT1):c.2056-14C>T
|
rs759290391
|
|
NM_000127.3(EXT1):c.2059del (p.Ser687fs)
|
rs1554656288
|
|
NM_000127.3(EXT1):c.2065G>T (p.Ala689Ser)
|
|
|
NM_000127.3(EXT1):c.2067T>G (p.Ala689=)
|
|
|
NM_000127.3(EXT1):c.2071C>T (p.Arg691Cys)
|
rs1586987089
|
|
NM_000127.3(EXT1):c.2079T>C (p.Ala693=)
|
|
|
NM_000127.3(EXT1):c.208C>T (p.Gln70Ter)
|
rs1817887343
|
|
NM_000127.3(EXT1):c.2098C>A (p.Gln700Lys)
|
|
|
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter)
|
rs1363815113
|
|
NM_000127.3(EXT1):c.2104C>T (p.Gln702Ter)
|
rs1554656266
|
|
NM_000127.3(EXT1):c.2115del (p.Met705fs)
|
rs1823137578
|
|
NM_000127.3(EXT1):c.2119dup (p.Thr707fs)
|
rs1823137520
|
|
NM_000127.3(EXT1):c.211T>C (p.Leu71=)
|
|
|
NM_000127.3(EXT1):c.2120C>T (p.Thr707Met)
|
rs756718693
|
|
NM_000127.3(EXT1):c.2131del (p.Trp711fs)
|
rs2129679904
|
|
NM_000127.3(EXT1):c.2132G>A (p.Trp711Ter)
|
rs786205593
|
|
NM_000127.3(EXT1):c.2133G>A (p.Trp711Ter)
|
rs2129679879
|
|
NM_000127.3(EXT1):c.2134T>C (p.Phe712Leu)
|
|
|
NM_000127.3(EXT1):c.213G>C (p.Leu71Phe)
|
|
|
NM_000127.3(EXT1):c.2156A>C (p.His719Pro)
|
rs751787859
|
|
NM_000127.3(EXT1):c.2161C>G (p.Gln721Glu)
|
|
|
NM_000127.3(EXT1):c.2170C>T (p.Leu724Phe)
|
|
|
NM_000127.3(EXT1):c.2179G>A (p.Val727Ile)
|
|
|
NM_000127.3(EXT1):c.218del (p.Asn73fs)
|
rs1554601568
|
|
NM_000127.3(EXT1):c.2199C>T (p.Val733=)
|
rs201230140
|
|
NM_000127.3(EXT1):c.2203A>G (p.Ile735Val)
|
|
|
NM_000127.3(EXT1):c.2226C>A (p.Asp742Glu)
|
|
|
NM_000127.3(EXT1):c.232G>A (p.Val78Met)
|
|
|
NM_000127.3(EXT1):c.238A>G (p.Ile80Val)
|
rs1817886276
|
|
NM_000127.3(EXT1):c.240T>C (p.Ile80=)
|
|
|
NM_000127.3(EXT1):c.243C>A (p.Ser81=)
|
rs916118962
|
|
NM_000127.3(EXT1):c.247del (p.Arg83fs)
|
rs1554601559
|
|
NM_000127.3(EXT1):c.247dup (p.Arg83fs)
|
rs1554601559
|
|
NM_000127.3(EXT1):c.249dup (p.Gln84fs)
|
|
|
NM_000127.3(EXT1):c.250C>T (p.Gln84Ter)
|
rs1064793753
|
|
NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)
|
|
|
NM_000127.3(EXT1):c.256C>T (p.Arg86Ter)
|
|
|
NM_000127.3(EXT1):c.260A>T (p.Asp87Val)
|
rs2130044605
|
|
NM_000127.3(EXT1):c.266A>C (p.Asn89Thr)
|
|
|
NM_000127.3(EXT1):c.266dup (p.Asn89fs)
|
rs1817885411
|
|
NM_000127.3(EXT1):c.276_277dup (p.Tyr93fs)
|
rs1586279952
|
|
NM_000127.3(EXT1):c.277T>A (p.Tyr93Asn)
|
rs1402667727
|
|
NM_000127.3(EXT1):c.279C>G (p.Tyr93Ter)
|
rs1227875610
|
|
NM_000127.3(EXT1):c.282dup (p.Gly95fs)
|
rs1563659649
|
|
NM_000127.3(EXT1):c.286A>G (p.Lys96Glu)
|
|
|
NM_000127.3(EXT1):c.286A>T (p.Lys96Ter)
|
rs1817884837
|
|
NM_000127.3(EXT1):c.287_290dup (p.Cys98fs)
|
rs2130044431
|
|
NM_000127.3(EXT1):c.287del (p.Lys96fs)
|
rs1817884791
|
|
NM_000127.3(EXT1):c.291G>T (p.Lys97Asn)
|
rs2130044422
|
|
NM_000127.3(EXT1):c.293del (p.Cys98fs)
|
rs2130044416
|
|
NM_000127.3(EXT1):c.315T>C (p.Asp105=)
|
|
|
NM_000127.3(EXT1):c.318C>A (p.Phe106Leu)
|
rs1817884143
|
|
NM_000127.3(EXT1):c.31C>T (p.Leu11Phe)
|
rs769143352
|
|
NM_000127.3(EXT1):c.322C>T (p.Leu108Phe)
|
rs2130044245
|
|
NM_000127.3(EXT1):c.329A>G (p.Lys110Arg)
|
rs1178109514
|
|
NM_000127.3(EXT1):c.331A>T (p.Lys111Ter)
|
|
|
NM_000127.3(EXT1):c.345dup (p.Val116fs)
|
|
|
NM_000127.3(EXT1):c.349T>C (p.Tyr117His)
|
|
|
NM_000127.3(EXT1):c.351C>G (p.Tyr117Ter)
|
rs982804750
|
|
NM_000127.3(EXT1):c.356_357del (p.Tyr119fs)
|
|
|
NM_000127.3(EXT1):c.357C>G (p.Tyr119Ter)
|
|
|
NM_000127.3(EXT1):c.360dup (p.Gln121fs)
|
rs1817882619
|
|
NM_000127.3(EXT1):c.361C>T (p.Gln121Ter)
|
rs2130043930
|
|
NM_000127.3(EXT1):c.364C>T (p.Gln122Ter)
|
rs1586279835
|
|
NM_000127.3(EXT1):c.369_370del (p.Lys126fs)
|
rs2130043872
|
|
NM_000127.3(EXT1):c.371G>A (p.Gly124Glu)
|
rs761940324
|
|
NM_000127.3(EXT1):c.373G>T (p.Glu125Ter)
|
|
|
NM_000127.3(EXT1):c.373del (p.Glu125fs)
|
|
|
NM_000127.3(EXT1):c.373dup (p.Glu125fs)
|
rs2130043834
|
|
NM_000127.3(EXT1):c.379del (p.Ile127fs)
|
|
|
NM_000127.3(EXT1):c.384C>G (p.Ala128=)
|
|
|
NM_000127.3(EXT1):c.385G>T (p.Glu129Ter)
|
|
|
NM_000127.3(EXT1):c.393C>A (p.Tyr131Ter)
|
rs2130043699
|
|
NM_000127.3(EXT1):c.393C>G (p.Tyr131Ter)
|
rs2130043699
|
|
NM_000127.3(EXT1):c.402del (p.Ile134_Leu135insTer)
|
rs1817881036
|
|
NM_000127.3(EXT1):c.404T>C (p.Leu135Pro)
|
|
|
NM_000127.3(EXT1):c.407C>A (p.Ala136Glu)
|
|
|
NM_000127.3(EXT1):c.409G>A (p.Ala137Thr)
|
|
|
NM_000127.3(EXT1):c.414C>T (p.Ile138=)
|
|
|
NM_000127.3(EXT1):c.419G>A (p.Gly140Asp)
|
|
|
NM_000127.3(EXT1):c.419del (p.Gly140fs)
|
|
|
NM_000127.3(EXT1):c.422C>T (p.Ser141Phe)
|
rs1817880635
|
|
NM_000127.3(EXT1):c.423C>T (p.Ser141=)
|
rs2130043533
|
|
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser)
|
rs1188458258
|
|
NM_000127.3(EXT1):c.435del (p.Ser146fs)
|
rs2130043490
|
|
NM_000127.3(EXT1):c.43_53del (p.Ser15fs)
|
|
|
NM_000127.3(EXT1):c.441C>T (p.Asp147=)
|
|
|
NM_000127.3(EXT1):c.444dup (p.Ser149fs)
|
|
|
NM_000127.3(EXT1):c.449A>G (p.Gln150Arg)
|
rs1817880148
|
|
NM_000127.3(EXT1):c.44C>G (p.Ser15Cys)
|
|
|
NM_000127.3(EXT1):c.453G>C (p.Ala151=)
|
rs780843781
|
|
NM_000127.3(EXT1):c.455G>A (p.Cys152Tyr)
|
rs2130043370
|
|
NM_000127.3(EXT1):c.455_456del (p.Cys152fs)
|
|
|
NM_000127.3(EXT1):c.456C>A (p.Cys152Ter)
|
rs1554601534
|
|
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro)
|
rs1817879832
|
|
NM_000127.3(EXT1):c.461_462del (p.Phe154fs)
|
rs2130043334
|
|
NM_000127.3(EXT1):c.465C>T (p.Val155=)
|
|
|
NM_000127.3(EXT1):c.46del (p.Cys16fs)
|
rs1817893887
|
|
NM_000127.3(EXT1):c.472C>G (p.Leu158Val)
|
|
|
NM_000127.3(EXT1):c.487_488insAA (p.Arg163fs)
|
rs1817879250
|
|
NM_000127.3(EXT1):c.487dup (p.Arg163fs)
|
rs1817879250
|
|
NM_000127.3(EXT1):c.490_491del (p.Asp164fs)
|
rs1817879125
|
|
NM_000127.3(EXT1):c.499T>C (p.Ser167Pro)
|
rs1227559201
|
|
NM_000127.3(EXT1):c.49_61del (p.Leu17fs)
|
|
|
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter)
|
rs1817895168
|
|
NM_000127.3(EXT1):c.510T>G (p.Tyr170Ter)
|
|
|
NM_000127.3(EXT1):c.515_527del (p.His172fs)
|
|
|
NM_000127.3(EXT1):c.516_517insTA (p.Asn173Ter)
|
rs1817878703
|
|
NM_000127.3(EXT1):c.517A>G (p.Asn173Asp)
|
rs1448140995
|
|
NM_000127.3(EXT1):c.528C>G (p.Ser176=)
|
|
|
NM_000127.3(EXT1):c.533_534dup (p.Gln179fs)
|
rs1554601525
|
|
NM_000127.3(EXT1):c.535C>G (p.Gln179Glu)
|
|
|
NM_000127.3(EXT1):c.535C>T (p.Gln179Ter)
|
rs886039561
|
|
NM_000127.3(EXT1):c.538_539del (p.Leu181fs)
|
rs886039486
|
|
NM_000127.3(EXT1):c.540_962+399del
|
rs2130039927
|
|
NM_000127.3(EXT1):c.541C>G (p.Leu181Val)
|
|
|
NM_000127.3(EXT1):c.542_543del (p.Leu181fs)
|
rs1563659474
|
|
NM_000127.3(EXT1):c.551_552del (p.Leu183_Trp184insTer)
|
|
|
NM_000127.3(EXT1):c.552G>A (p.Trp184Ter)
|
|
|
NM_000127.3(EXT1):c.557_558del (p.Asn186fs)
|
rs2130042921
|
|
NM_000127.3(EXT1):c.558T>C (p.Asn186=)
|
rs1817877428
|
|
NM_000127.3(EXT1):c.559G>A (p.Gly187Ser)
|
|
|
NM_000127.3(EXT1):c.55del (p.Leu19fs)
|
|
|
NM_000127.3(EXT1):c.563G>A (p.Arg188Lys)
|
rs775696069
|
|
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)
|
rs1817877271
|
|
NM_000127.3(EXT1):c.567_568delinsAT (p.Asn189_His190delinsLysTyr)
|
rs1817877229
|
|
NM_000127.3(EXT1):c.568_570del (p.His190del)
|
rs1817877188
|
|
NM_000127.3(EXT1):c.572T>C (p.Leu191Ser)
|
rs1563659467
|
|
NM_000127.3(EXT1):c.574A>G (p.Ile192Val)
|
|
|
NM_000127.3(EXT1):c.575T>A (p.Ile192Asn)
|
rs1817877044
|
|
NM_000127.3(EXT1):c.579T>A (p.Phe193Leu)
|
rs2130042837
|
|
NM_000127.3(EXT1):c.582T>C (p.Asn194=)
|
|
|
NM_000127.3(EXT1):c.584T>G (p.Leu195Ter)
|
rs1586279621
|
|
NM_000127.3(EXT1):c.593G>T (p.Gly198Val)
|
rs1817876363
|
|
NM_000127.3(EXT1):c.595A>G (p.Thr199Ala)
|
rs1817876310
|
|
NM_000127.3(EXT1):c.598_669del (p.Trp200_Thr223del)
|
rs1554601502
|
|
NM_000127.3(EXT1):c.600G>A (p.Trp200Ter)
|
rs1817876148
|
|
NM_000127.3(EXT1):c.600G>C (p.Trp200Cys)
|
rs1817876148
|
|
NM_000127.3(EXT1):c.608A>C (p.Tyr203Ser)
|
rs1817876107
|
|
NM_000127.3(EXT1):c.60G>T (p.Leu20Phe)
|
rs1817893321
|
|
NM_000127.3(EXT1):c.60_64del (p.Tyr22fs)
|
rs2130045851
|
|
NM_000127.3(EXT1):c.612C>A (p.Thr204=)
|
|
|
NM_000127.3(EXT1):c.613G>T (p.Glu205Ter)
|
rs2130042683
|
|
NM_000127.3(EXT1):c.615G>A (p.Glu205=)
|
|
|
NM_000127.3(EXT1):c.635G>C (p.Gly212Ala)
|
|
|
NM_000127.3(EXT1):c.637C>T (p.Gln213Ter)
|
rs2130042549
|
|
NM_000127.3(EXT1):c.642_663del (p.Met215fs)
|
rs1586279544
|
|
NM_000127.3(EXT1):c.642_675del (p.Met215fs)
|
rs1586279535
|
|
NM_000127.3(EXT1):c.644_647dup (p.Lys218fs)
|
rs1554601507
|
|
NM_000127.3(EXT1):c.644_654del (p.Met215fs)
|
rs2130042421
|
|
NM_000127.3(EXT1):c.646C>G (p.Leu216Val)
|
|
|
NM_000127.3(EXT1):c.648G>A (p.Leu216=)
|
rs2130042468
|
|
NM_000127.3(EXT1):c.649_662del (p.Ala217fs)
|
rs1817874249
|
|
NM_000127.3(EXT1):c.651_663del (p.Lys218fs)
|
rs1554601504
|
|
NM_000127.3(EXT1):c.651_664delinsTTT (p.Lys218fs)
|
rs1817873963
|
|
NM_000127.3(EXT1):c.651_668del (p.Lys218_Thr223del)
|
|
|
NM_000127.3(EXT1):c.658A>G (p.Ser220Gly)
|
rs1554601506
|
|
NM_000127.3(EXT1):c.659G>A (p.Ser220Asn)
|
|
|
NM_000127.3(EXT1):c.663C>T (p.Ile221=)
|
|
|
NM_000127.3(EXT1):c.668C>T (p.Thr223Ile)
|
|
|
NM_000127.3(EXT1):c.66T>G (p.Tyr22Ter)
|
rs764093488
|
|
NM_000127.3(EXT1):c.674del (p.Asn225fs)
|
rs1817873681
|
|
NM_000127.3(EXT1):c.678C>T (p.Phe226=)
|
|
|
NM_000127.3(EXT1):c.679C>T (p.Arg227Ter)
|
rs1817873582
|
|
NM_000127.3(EXT1):c.686dup (p.Asn229fs)
|
rs1817873443
|
|
NM_000127.3(EXT1):c.692A>T (p.Asp231Val)
|
|
|
NM_000127.3(EXT1):c.692_694del (p.Asp231del)
|
rs1817873196
|
|
NM_000127.3(EXT1):c.698del (p.Ser233fs)
|
rs1817872999
|
|
NM_000127.3(EXT1):c.69C>A (p.Phe23Leu)
|
|
|
NM_000127.3(EXT1):c.70G>A (p.Gly24Arg)
|
rs1817893036
|
|
NM_000127.3(EXT1):c.711_712del (p.Phe237_Ser238insTer)
|
rs2130042109
|
|
NM_000127.3(EXT1):c.712del (p.Ser238fs)
|
|
|
NM_000127.3(EXT1):c.713del (p.Ser238fs)
|
rs2130042099
|
|
NM_000127.3(EXT1):c.718G>C (p.Asp240His)
|
|
|
NM_000127.3(EXT1):c.726C>T (p.Pro242=)
|
|
|
NM_000127.3(EXT1):c.739G>A (p.Glu247Lys)
|
|
|
NM_000127.3(EXT1):c.739G>T (p.Glu247Ter)
|
|
|
NM_000127.3(EXT1):c.73G>C (p.Gly25Arg)
|
|
|
NM_000127.3(EXT1):c.747del (p.Phe250_Leu251insTer)
|
rs1817872132
|
|
NM_000127.3(EXT1):c.747dup (p.Phe250fs)
|
rs1817872132
|
|
NM_000127.3(EXT1):c.752del (p.Phe250_Leu251insTer)
|
rs2130041954
|
|
NM_000127.3(EXT1):c.756del (p.Lys252fs)
|
|
|
NM_000127.3(EXT1):c.757_760dup (p.Asn254fs)
|
|
|
NM_000127.3(EXT1):c.764C>A (p.Thr255Asn)
|
|
|
NM_000127.3(EXT1):c.765C>G (p.Thr255=)
|
|
|
NM_000127.3(EXT1):c.769C>T (p.Pro257Ser)
|
rs1817871592
|
|
NM_000127.3(EXT1):c.770del (p.Pro257fs)
|
rs2130041891
|
|
NM_000127.3(EXT1):c.772_773dup (p.Arg260fs)
|
rs1817871338
|
|
NM_000127.3(EXT1):c.773C>A (p.Pro258His)
|
rs2130041856
|
|
NM_000127.3(EXT1):c.773_777del (p.Pro258fs)
|
rs2130041831
|
|
NM_000127.3(EXT1):c.774T>A (p.Pro258=)
|
|
|
NM_000127.3(EXT1):c.783G>A (p.Lys261=)
|
|
|
NM_000127.3(EXT1):c.787del (p.Met263fs)
|
rs2130041790
|
|
NM_000127.3(EXT1):c.791T>G (p.Leu264Arg)
|
rs377162411
|
|
NM_000127.3(EXT1):c.792G>A (p.Leu264=)
|
|
|
NM_000127.3(EXT1):c.796T>A (p.Phe266Ile)
|
rs2130041754
|
|
NM_000127.3(EXT1):c.798del (p.Phe266fs)
|
rs1563659352
|
|
NM_000127.3(EXT1):c.79C>T (p.Gln27Ter)
|
rs1817892723
|
|
NM_000127.3(EXT1):c.802G>A (p.Gly268Arg)
|
rs1554601492
|
|
NM_000127.3(EXT1):c.802G>C (p.Gly268Arg)
|
rs1554601492
|
|
NM_000127.3(EXT1):c.803G>A (p.Gly268Glu)
|
rs886039352
|
|
NM_000127.3(EXT1):c.803G>T (p.Gly268Val)
|
rs886039352
|
|
NM_000127.3(EXT1):c.809G>C (p.Arg270Thr)
|
|
|
NM_000127.3(EXT1):c.812A>G (p.Tyr271Cys)
|
rs1064793786
|
|
NM_000127.3(EXT1):c.818_823delinsAAGGC (p.Thr273fs)
|
rs1817870176
|
|
NM_000127.3(EXT1):c.822del (p.Gly274_Ile275insTer)
|
rs1817870237
|
|
NM_000127.3(EXT1):c.830C>G (p.Ser277Ter)
|
|
|
NM_000127.3(EXT1):c.832G>T (p.Asp278Tyr)
|
rs2130041549
|
|
NM_000127.3(EXT1):c.837dup (p.Arg280fs)
|
rs2130041540
|
|
NM_000127.3(EXT1):c.838A>G (p.Arg280Gly)
|
rs1554601483
|
|
NM_000127.3(EXT1):c.838A>T (p.Arg280Trp)
|
|
|
NM_000127.3(EXT1):c.839G>C (p.Arg280Thr)
|
rs1586279403
|
|
NM_000127.3(EXT1):c.840G>C (p.Arg280Ser)
|
rs1563659325
|
|
NM_000127.3(EXT1):c.842A>C (p.Asn281Thr)
|
|
|
NM_000127.3(EXT1):c.845C>T (p.Ala282Val)
|
|
|
NM_000127.3(EXT1):c.846del (p.Leu283fs)
|
rs1554601481
|
|
NM_000127.3(EXT1):c.850T>C (p.Tyr284His)
|
|
|
NM_000127.3(EXT1):c.852T>A (p.Tyr284Ter)
|
rs1057520608
|
|
NM_000127.3(EXT1):c.854dup (p.His285fs)
|
rs1554601476
|
|
NM_000127.3(EXT1):c.855C>T (p.His285=)
|
|
|
NM_000127.3(EXT1):c.856G>C (p.Val286Leu)
|
|
|
NM_000127.3(EXT1):c.868G>T (p.Glu290Ter)
|
rs759708614
|
|
NM_000127.3(EXT1):c.871G>A (p.Asp291Asn)
|
|
|
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)
|
rs372750330
|
|
NM_000127.3(EXT1):c.874G>T (p.Val292Phe)
|
rs1586279359
|
|
NM_000127.3(EXT1):c.889A>T (p.Thr297Ser)
|
rs1817868656
|
|
NM_000127.3(EXT1):c.905A>G (p.Lys302Arg)
|
|
|
NM_000127.3(EXT1):c.907del (p.Asp303fs)
|
rs2130041164
|
|
NM_000127.3(EXT1):c.910T>A (p.Trp304Arg)
|
rs1413726979
|
|
NM_000127.3(EXT1):c.912G>A (p.Trp304Ter)
|
rs1817868370
|
|
NM_000127.3(EXT1):c.913C>T (p.Gln305Ter)
|
rs1554601474
|
|
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg)
|
rs1817867776
|
|
NM_000127.3(EXT1):c.934_936del (p.Cys312del)
|
rs1817867722
|
|
NM_000127.3(EXT1):c.947A>G (p.Asn316Ser)
|
|
|
NM_000127.3(EXT1):c.949del (p.Thr317fs)
|
|
|
NM_000127.3(EXT1):c.950C>G (p.Thr317Ser)
|
rs748945641
|
|
NM_000127.3(EXT1):c.957T>A (p.Tyr319Ter)
|
rs1586279297
|
|
NM_000127.3(EXT1):c.961A>T (p.Lys321Ter)
|
rs1817866954
|
|
NM_000127.3(EXT1):c.962+17del
|
|
|
NM_000127.3(EXT1):c.962+18C>T
|
|
|
NM_000127.3(EXT1):c.962+1G>A
|
rs886039353
|
|
NM_000127.3(EXT1):c.962+1G>C
|
rs886039353
|
|
NM_000127.3(EXT1):c.962+1G>T
|
rs886039353
|
|
NM_000127.3(EXT1):c.962+5G>C
|
|
|
NM_000127.3(EXT1):c.962+7G>A
|
rs778490814
|
|
NM_000127.3(EXT1):c.962+8_962+11del
|
rs138812713
|
|
NM_000127.3(EXT1):c.962A>G (p.Lys321Arg)
|
|
|
NM_000127.3(EXT1):c.963-13C>T
|
|
|
NM_000127.3(EXT1):c.963-14T>G
|
|
|
NM_000127.3(EXT1):c.963-15C>T
|
|
|
NM_000127.3(EXT1):c.963-2A>G
|
rs1554580162
|
|
NM_000127.3(EXT1):c.963-7dup
|
rs2129791582
|
|
NM_000127.3(EXT1):c.963G>A (p.Lys321=)
|
|
|
NM_000127.3(EXT1):c.969T>C (p.Asp323=)
|
|
|
NM_000127.3(EXT1):c.96G>A (p.Arg32=)
|
|
|
NM_000127.3(EXT1):c.978A>G (p.Glu326=)
|
rs2129791475
|
|
NM_000127.3(EXT1):c.988_989insTC (p.Asn330fs)
|
rs1563575697
|
|
NM_000127.3(EXT1):c.98G>A (p.Ser33Asn)
|
|
|
NM_000127.3(EXT1):c.992C>A (p.Ala331Asp)
|
rs1554580153
|
|
NM_000127.3(EXT1):c.995_1000del (p.Thr332_Cys334delinsSer)
|
rs2129791337
|
|
NM_000127.3(EXT1):c.999C>A (p.Phe333Leu)
|
|
|
NM_002334.4(LRP4):c.1009T>G (p.Cys337Gly)
|
|
|
NM_002334.4(LRP4):c.1026C>T (p.Asp342=)
|
|
|
NM_002334.4(LRP4):c.1029A>G (p.Glu343=)
|
rs761739869
|
|
NM_002334.4(LRP4):c.1048+13A>G
|
|
|
NM_002334.4(LRP4):c.1049-10G>C
|
rs2134853583
|
|
NM_002334.4(LRP4):c.1049-20C>T
|
|
|
NM_002334.4(LRP4):c.1060G>A (p.Gly354Ser)
|
|
|
NM_002334.4(LRP4):c.1074C>T (p.Cys358=)
|
|
|
NM_002334.4(LRP4):c.1076A>T (p.Asn359Ile)
|
|
|
NM_002334.4(LRP4):c.1095T>C (p.Cys365=)
|
|
|
NM_002334.4(LRP4):c.1097C>T (p.Ala366Val)
|
rs1941521066
|
|
NM_002334.4(LRP4):c.1110G>T (p.Gln370His)
|
|
|
NM_002334.4(LRP4):c.1112T>C (p.Met371Thr)
|
rs1164240481
|
|
NM_002334.4(LRP4):c.1118G>C (p.Arg373Pro)
|
|
|
NM_002334.4(LRP4):c.1123_1126dup (p.Val376fs)
|
|
|
NM_002334.4(LRP4):c.1126G>A (p.Val376Met)
|
rs1243051904
|
|
NM_002334.4(LRP4):c.1146A>G (p.Thr382=)
|
rs2134853133
|
|
NM_002334.4(LRP4):c.1176G>A (p.Thr392=)
|
|
|
NM_002334.4(LRP4):c.1184-18C>T
|
|
|
NM_002334.4(LRP4):c.1184-2A>G
|
|
|
NM_002334.4(LRP4):c.1184-5C>T
|
|
|
NM_002334.4(LRP4):c.1187T>A (p.Val396Glu)
|
rs2134851507
|
|
NM_002334.4(LRP4):c.1218C>T (p.Ser406=)
|
rs2134851406
|
|
NM_002334.4(LRP4):c.1222G>A (p.Gly408Ser)
|
|
|
NM_002334.4(LRP4):c.1236C>T (p.Ser412=)
|
|
|
NM_002334.4(LRP4):c.1237G>A (p.Glu413Lys)
|
|
|
NM_002334.4(LRP4):c.1279C>T (p.Arg427Trp)
|
|
|
NM_002334.4(LRP4):c.1280G>A (p.Arg427Gln)
|
rs569764064
|
|
NM_002334.4(LRP4):c.1289G>A (p.Arg430Gln)
|
|
|
NM_002334.4(LRP4):c.1302G>A (p.Lys434=)
|
|
|
NM_002334.4(LRP4):c.1306C>T (p.Leu436=)
|
rs368827270
|
|
NM_002334.4(LRP4):c.1309+5G>C
|
|
|
NM_002334.4(LRP4):c.1310-3C>T
|
rs1941491191
|
|
NM_002334.4(LRP4):c.1317G>A (p.Glu439=)
|
|
|
NM_002334.4(LRP4):c.1320T>C (p.Pro440=)
|
|
|
NM_002334.4(LRP4):c.1333G>A (p.Ala445Thr)
|
rs1023257694
|
|
NM_002334.4(LRP4):c.1341C>T (p.Arg447=)
|
|
|
NM_002334.4(LRP4):c.135C>T (p.Ile45=)
|
|
|
NM_002334.4(LRP4):c.1366C>T (p.His456Tyr)
|
rs1555174047
|
|
NM_002334.4(LRP4):c.1371C>A (p.Arg457=)
|
|
|
NM_002334.4(LRP4):c.1436G>A (p.Arg479His)
|
|
|
NM_002334.4(LRP4):c.1436G>T (p.Arg479Leu)
|
|
|
NM_002334.4(LRP4):c.143A>G (p.Gln48Arg)
|
|
|
NM_002334.4(LRP4):c.1487A>G (p.Asn496Ser)
|
rs746759136
|
|
NM_002334.4(LRP4):c.1488C>A (p.Asn496Lys)
|
rs779961860
|
|
NM_002334.4(LRP4):c.1490T>G (p.Leu497Arg)
|
|
|
NM_002334.4(LRP4):c.1503C>T (p.Asn501=)
|
|
|
NM_002334.4(LRP4):c.1509G>A (p.Glu503=)
|
|
|
NM_002334.4(LRP4):c.1535G>T (p.Ser512Ile)
|
rs769948678
|
|
NM_002334.4(LRP4):c.1540+13G>A
|
|
|
NM_002334.4(LRP4):c.1540+17C>A
|
|
|
NM_002334.4(LRP4):c.1540+18A>G
|
|
|
NM_002334.4(LRP4):c.1540+3A>G
|
rs2134849214
|
|
NM_002334.4(LRP4):c.1540+9C>T
|
|
|
NM_002334.4(LRP4):c.1541-16T>C
|
|
|
NM_002334.4(LRP4):c.1542G>T (p.Gly514=)
|
|
|
NM_002334.4(LRP4):c.1546C>T (p.Leu516=)
|
rs1592539185
|
|
NM_002334.4(LRP4):c.1560G>C (p.Trp520Cys)
|
|
|
NM_002334.4(LRP4):c.1584C>A (p.Thr528=)
|
rs574108233
|
|
NM_002334.4(LRP4):c.1623_1624inv (p.Gly542Arg)
|
|
|
NM_002334.4(LRP4):c.1626G>A (p.Gly542=)
|
|
|
NM_002334.4(LRP4):c.1627G>A (p.Ala543Thr)
|
|
|
NM_002334.4(LRP4):c.1629C>T (p.Ala543=)
|
|
|
NM_002334.4(LRP4):c.162C>G (p.Asp54Glu)
|
|
|
NM_002334.4(LRP4):c.1634G>A (p.Arg545Gln)
|
|
|
NM_002334.4(LRP4):c.1657C>G (p.Leu553Val)
|
rs751911145
|
|
NM_002334.4(LRP4):c.1670G>A (p.Arg557Gln)
|
|
|
NM_002334.4(LRP4):c.1697+19T>C
|
|
|
NM_002334.4(LRP4):c.1698-9_1698-5del
|
rs1941399170
|
|
NM_002334.4(LRP4):c.1714G>A (p.Asp572Asn)
|
|
|
NM_002334.4(LRP4):c.1730C>T (p.Pro577Leu)
|
rs1941398250
|
|
NM_002334.4(LRP4):c.1733G>A (p.Arg578His)
|
|
|
NM_002334.4(LRP4):c.1755T>C (p.Asp585=)
|
|
|
NM_002334.4(LRP4):c.1758C>T (p.Gly586=)
|
|
|
NM_002334.4(LRP4):c.1760C>G (p.Ser587Cys)
|
|
|
NM_002334.4(LRP4):c.1764A>G (p.Gly588=)
|
|
|
NM_002334.4(LRP4):c.1765C>T (p.Arg589Cys)
|
|
|
NM_002334.4(LRP4):c.1803T>C (p.Asn601=)
|
|
|
NM_002334.4(LRP4):c.1833T>C (p.Arg611=)
|
|
|
NM_002334.4(LRP4):c.1834A>T (p.Met612Leu)
|
|
|
NM_002334.4(LRP4):c.183C>T (p.Ser61=)
|
|
|
NM_002334.4(LRP4):c.184G>A (p.Asp62Asn)
|
|
|
NM_002334.4(LRP4):c.1850del (p.Ala617fs)
|
|
|
NM_002334.4(LRP4):c.1854G>A (p.Lys618=)
|
|
|
NM_002334.4(LRP4):c.1855C>T (p.His619Tyr)
|
|
|
NM_002334.4(LRP4):c.1915+8C>A
|
|
|
NM_002334.4(LRP4):c.1920C>T (p.Leu640=)
|
|
|
NM_002334.4(LRP4):c.1953C>T (p.Asp651=)
|
|
|
NM_002334.4(LRP4):c.1980C>A (p.Thr660=)
|
|
|
NM_002334.4(LRP4):c.1985G>A (p.Ser662Asn)
|
|
|
NM_002334.4(LRP4):c.199+12C>T
|
|
|
NM_002334.4(LRP4):c.1990A>G (p.Asn664Asp)
|
rs1190494235
|
|
NM_002334.4(LRP4):c.1995C>T (p.Ser665=)
|
|
|
NM_002334.4(LRP4):c.200-26TTTTC[2]
|
rs760673637
|
|
NM_002334.4(LRP4):c.200-26TTTTC[4]
|
|
|
NM_002334.4(LRP4):c.2001C>T (p.Asn667=)
|
|
|
NM_002334.4(LRP4):c.2026A>C (p.Ile676Leu)
|
|
|
NM_002334.4(LRP4):c.2028C>A (p.Ile676=)
|
|
|
NM_002334.4(LRP4):c.2028C>T (p.Ile676=)
|
rs1941385384
|
|
NM_002334.4(LRP4):c.2032C>T (p.Arg678Cys)
|
|
|
NM_002334.4(LRP4):c.2043C>G (p.Leu681=)
|
|
|
NM_002334.4(LRP4):c.2070G>C (p.Leu690Phe)
|
rs2134837991
|
|
NM_002334.4(LRP4):c.2073C>T (p.His691=)
|
|
|
NM_002334.4(LRP4):c.2081G>A (p.Arg694His)
|
rs1406466481
|
|
NM_002334.4(LRP4):c.2090C>T (p.Ala697Val)
|
|
|
NM_002334.4(LRP4):c.2092+12C>T
|
|
|
NM_002334.4(LRP4):c.2092+18G>A
|
|
|
NM_002334.4(LRP4):c.2092+20G>C
|
|
|
NM_002334.4(LRP4):c.2092+5A>G
|
|
|
NM_002334.4(LRP4):c.2093-15dup
|
rs375880498
|
|
NM_002334.4(LRP4):c.2093-19C>T
|
rs1181290875
|
|
NM_002334.4(LRP4):c.2113A>G (p.Asn705Asp)
|
|
|
NM_002334.4(LRP4):c.2113AAC[1] (p.Asn706del)
|
rs1565792675
|
|
NM_002334.4(LRP4):c.2119G>A (p.Gly707Arg)
|
rs1382055371
|
|
NM_002334.4(LRP4):c.2130G>A (p.Thr710=)
|
rs199674492
|
|
NM_002334.4(LRP4):c.2142G>T (p.Leu714=)
|
|
|
NM_002334.4(LRP4):c.2175C>T (p.Pro725=)
|
rs369705661
|
|
NM_002334.4(LRP4):c.2178T>G (p.Thr726=)
|
rs1941371842
|
|
NM_002334.4(LRP4):c.2201A>C (p.His734Pro)
|
|
|
NM_002334.4(LRP4):c.2213A>C (p.Gln738Pro)
|
|
|
NM_002334.4(LRP4):c.2213A>G (p.Gln738Arg)
|
|
|
NM_002334.4(LRP4):c.2215+5G>A
|
rs1941370233
|
|
NM_002334.4(LRP4):c.2216-18C>T
|
|
|
NM_002334.4(LRP4):c.2216-20C>A
|
|
|
NM_002334.4(LRP4):c.2226G>C (p.Lys742Asn)
|
|
|
NM_002334.4(LRP4):c.2258G>A (p.Arg753His)
|
|
|
NM_002334.4(LRP4):c.225C>T (p.Asp75=)
|
rs1023732809
|
|
NM_002334.4(LRP4):c.2260C>T (p.Arg754Ter)
|
rs1565790767
|
|
NM_002334.4(LRP4):c.2261G>A (p.Arg754Gln)
|
|
|
NM_002334.4(LRP4):c.2286G>T (p.Leu762=)
|
|
|
NM_002334.4(LRP4):c.229C>A (p.His77Asn)
|
|
|
NM_002334.4(LRP4):c.2307G>A (p.Leu769=)
|
|
|
NM_002334.4(LRP4):c.230A>G (p.His77Arg)
|
|
|
NM_002334.4(LRP4):c.2321G>A (p.Ser774Asn)
|
|
|
NM_002334.4(LRP4):c.2337C>T (p.Asp779=)
|
|
|
NM_002334.4(LRP4):c.2348G>A (p.Arg783Gln)
|
|
|
NM_002334.4(LRP4):c.2370A>G (p.Thr790=)
|
|
|
NM_002334.4(LRP4):c.2381C>T (p.Thr794Ile)
|
rs2134828263
|
|
NM_002334.4(LRP4):c.2387C>A (p.Thr796Asn)
|
rs753109967
|
|
NM_002334.4(LRP4):c.2425-19A>G
|
rs2134827879
|
|
NM_002334.4(LRP4):c.2425-6G>T
|
rs1592532832
|
|
NM_002334.4(LRP4):c.2442T>C (p.Ser814=)
|
rs2134827694
|
|
NM_002334.4(LRP4):c.2493C>T (p.Tyr831=)
|
rs2134827587
|
|
NM_002334.4(LRP4):c.2498del (p.Thr833fs)
|
|
|
NM_002334.4(LRP4):c.2506+8T>C
|
|
|
NM_002334.4(LRP4):c.2507-1G>A
|
|
|
NM_002334.4(LRP4):c.2531A>G (p.Asn844Ser)
|
rs2134821602
|
|
NM_002334.4(LRP4):c.2534C>T (p.Thr845Ile)
|
|
|
NM_002334.4(LRP4):c.2543G>C (p.Ser848Thr)
|
|
|
NM_002334.4(LRP4):c.2551A>G (p.Thr851Ala)
|
rs2134821502
|
|
NM_002334.4(LRP4):c.256C>T (p.Arg86Cys)
|
|
|
NM_002334.4(LRP4):c.2579G>A (p.Arg860His)
|
|
|
NM_002334.4(LRP4):c.2592C>T (p.Ile864=)
|
|
|
NM_002334.4(LRP4):c.2607G>C (p.Met869Ile)
|
rs1370824030
|
|
NM_002334.4(LRP4):c.2611G>A (p.Gly871Arg)
|
|
|
NM_002334.4(LRP4):c.2612+12C>T
|
|
|
NM_002334.4(LRP4):c.2612+15C>T
|
rs926960884
|
|
NM_002334.4(LRP4):c.2613-11C>A
|
|
|
NM_002334.4(LRP4):c.2613-11_2613-7dup
|
|
|
NM_002334.4(LRP4):c.2617A>G (p.Met873Val)
|
|
|
NM_002334.4(LRP4):c.2626A>C (p.Thr876Pro)
|
rs1592529316
|
|
NM_002334.4(LRP4):c.2735A>T (p.Tyr912Phe)
|
rs756941634
|
|
NM_002334.4(LRP4):c.274G>C (p.Gly92Arg)
|
|
|
NM_002334.4(LRP4):c.2758G>A (p.Ala920Thr)
|
rs1486508644
|
|
NM_002334.4(LRP4):c.276G>A (p.Gly92=)
|
|
|
NM_002334.4(LRP4):c.2770A>G (p.Met924Val)
|
rs1247727700
|
|
NM_002334.4(LRP4):c.2774A>G (p.Lys925Arg)
|
|
|
NM_002334.4(LRP4):c.2786T>G (p.Phe929Cys)
|
|
|
NM_002334.4(LRP4):c.2794C>T (p.Leu932=)
|
|
|
NM_002334.4(LRP4):c.2814+10del
|
rs534937304
|
|
NM_002334.4(LRP4):c.2814+13_2814+35del
|
|
|
NM_002334.4(LRP4):c.2814+17_2814+39del
|
|
|
NM_002334.4(LRP4):c.2814+9G>A
|
|
|
NM_002334.4(LRP4):c.2815-11G>T
|
|
|
NM_002334.4(LRP4):c.2815-16G>A
|
rs1941096408
|
|
NM_002334.4(LRP4):c.2815-20_2815-17dup
|
|
|
NM_002334.4(LRP4):c.2830C>T (p.Gln944Ter)
|
rs1218582533
|
|
NM_002334.4(LRP4):c.2835C>A (p.Leu945=)
|
|
|
NM_002334.4(LRP4):c.2835C>G (p.Leu945=)
|
rs201362411
|
|
NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter)
|
rs1565785959
|
|
NM_002334.4(LRP4):c.2869C>T (p.Arg957Cys)
|
|
|
NM_002334.4(LRP4):c.2895C>G (p.Thr965=)
|
|
|
NM_002334.4(LRP4):c.2911G>A (p.Ala971Thr)
|
|
|
NM_002334.4(LRP4):c.2918G>A (p.Arg973Gln)
|
|
|
NM_002334.4(LRP4):c.2919G>T (p.Arg973=)
|
|
|
NM_002334.4(LRP4):c.2928G>T (p.Gly976=)
|
|
|
NM_002334.4(LRP4):c.2936G>A (p.Arg979Gln)
|
|
|
NM_002334.4(LRP4):c.2958G>A (p.Leu986=)
|
rs541593593
|
|
NM_002334.4(LRP4):c.2979T>C (p.His993=)
|
|
|
NM_002334.4(LRP4):c.2989C>T (p.Arg997Cys)
|
|
|
NM_002334.4(LRP4):c.2990G>A (p.Arg997His)
|
|
|
NM_002334.4(LRP4):c.2995C>T (p.Arg999Trp)
|
|
|
NM_002334.4(LRP4):c.2996G>A (p.Arg999Gln)
|
|
|
NM_002334.4(LRP4):c.3002C>G (p.Pro1001Arg)
|
|
|
NM_002334.4(LRP4):c.3004+13T>C
|
|
|
NM_002334.4(LRP4):c.3004+14G>C
|
|
|
NM_002334.4(LRP4):c.3004+18C>A
|
rs2306028
|
|
NM_002334.4(LRP4):c.3004+18C>T
|
rs2306028
|
|
NM_002334.4(LRP4):c.3004+19G>A
|
|
|
NM_002334.4(LRP4):c.3005-12C>T
|
|
|
NM_002334.4(LRP4):c.3005-4C>T
|
|
|
NM_002334.4(LRP4):c.3009T>C (p.Ser1003=)
|
|
|
NM_002334.4(LRP4):c.3020C>A (p.Ala1007Asp)
|
rs2134807106
|
|
NM_002334.4(LRP4):c.3022A>G (p.Met1008Val)
|
rs886048352
|
|
NM_002334.4(LRP4):c.3045C>T (p.His1015=)
|
rs2134807034
|
|
NM_002334.4(LRP4):c.3049T>C (p.Cys1017Arg)
|
rs2134807022
|
|
NM_002334.4(LRP4):c.3062C>G (p.Pro1021Arg)
|
|
|
NM_002334.4(LRP4):c.3067C>A (p.Pro1023Thr)
|
|
|
NM_002334.4(LRP4):c.306G>A (p.Glu102=)
|
|
|
NM_002334.4(LRP4):c.3100A>G (p.Ile1034Val)
|
|
|
NM_002334.4(LRP4):c.310G>A (p.Asp104Asn)
|
rs2134865411
|
|
NM_002334.4(LRP4):c.3136+16A>G
|
|
|
NM_002334.4(LRP4):c.3137-13C>T
|
|
|
NM_002334.4(LRP4):c.3137-15del
|
rs2134802550
|
|
NM_002334.4(LRP4):c.3137-4G>A
|
|
|
NM_002334.4(LRP4):c.3137-4G>C
|
|
|
NM_002334.4(LRP4):c.3141G>A (p.Met1047Ile)
|
rs2134802507
|
|
NM_002334.4(LRP4):c.3150C>T (p.Phe1050=)
|
rs2134802462
|
|
NM_002334.4(LRP4):c.3151C>T (p.Leu1051Phe)
|
|
|
NM_002334.4(LRP4):c.317-12C>G
|
|
|
NM_002334.4(LRP4):c.317-19G>A
|
|
|
NM_002334.4(LRP4):c.3199C>T (p.Pro1067Ser)
|
|
|
NM_002334.4(LRP4):c.320C>T (p.Pro107Leu)
|
rs2134864767
|
|
NM_002334.4(LRP4):c.3216G>A (p.Val1072=)
|
|
|
NM_002334.4(LRP4):c.3222A>C (p.Val1074=)
|
|
|
NM_002334.4(LRP4):c.3228C>T (p.Ile1076=)
|
|
|
NM_002334.4(LRP4):c.3255_3256delinsAC (p.Ile1086Leu)
|
rs1555172311
|
|
NM_002334.4(LRP4):c.3267C>A (p.Asp1089Glu)
|
|
|
NM_002334.4(LRP4):c.3268C>T (p.Pro1090Ser)
|
|
|
NM_002334.4(LRP4):c.3272A>G (p.Gln1091Arg)
|
|
|
NM_002334.4(LRP4):c.3275A>G (p.Glu1092Gly)
|
|
|
NM_002334.4(LRP4):c.3277+5G>A
|
rs374900441
|
|
NM_002334.4(LRP4):c.3278-8C>T
|
rs1941033938
|
|
NM_002334.4(LRP4):c.3292T>A (p.Ser1098Thr)
|
|
|
NM_002334.4(LRP4):c.3333T>C (p.Asp1111=)
|
|
|
NM_002334.4(LRP4):c.3343C>A (p.His1115Asn)
|
|
|
NM_002334.4(LRP4):c.3345T>A (p.His1115Gln)
|
|
|
NM_002334.4(LRP4):c.3349G>A (p.Asp1117Asn)
|
|
|
NM_002334.4(LRP4):c.3364+11C>T
|
|
|
NM_002334.4(LRP4):c.3364+17G>T
|
|
|
NM_002334.4(LRP4):c.3364+3G>A
|
|
|
NM_002334.4(LRP4):c.3384G>C (p.Gly1128=)
|
|
|
NM_002334.4(LRP4):c.3387C>T (p.Leu1129=)
|
rs2134800312
|
|
NM_002334.4(LRP4):c.3389C>T (p.Ala1130Val)
|
|
|
NM_002334.4(LRP4):c.33C>T (p.Gly11=)
|
|
|
NM_002334.4(LRP4):c.3406C>T (p.Arg1136Trp)
|
rs777439267
|
|
NM_002334.4(LRP4):c.3451G>A (p.Gly1151Ser)
|
rs1941024656
|
|
NM_002334.4(LRP4):c.3452G>A (p.Gly1151Asp)
|
|
|
NM_002334.4(LRP4):c.3454A>G (p.Asn1152Asp)
|
|
|
NM_002334.4(LRP4):c.3455A>T (p.Asn1152Ile)
|
|
|
NM_002334.4(LRP4):c.3504T>G (p.Ser1168Arg)
|
rs2134799809
|
|
NM_002334.4(LRP4):c.3528T>C (p.His1176=)
|
|
|
NM_002334.4(LRP4):c.3536+11_3536+12delinsAA
|
rs2134799662
|
|
NM_002334.4(LRP4):c.3536+16A>T
|
|
|
NM_002334.4(LRP4):c.3536+18C>T
|
|
|
NM_002334.4(LRP4):c.3551C>T (p.Thr1184Ile)
|
rs2134798449
|
|
NM_002334.4(LRP4):c.3554A>T (p.Asp1185Val)
|
|
|
NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser)
|
rs387906883
|
|
NM_002334.4(LRP4):c.3557G>T (p.Trp1186Leu)
|
|
|
NM_002334.4(LRP4):c.356A>T (p.Asn119Ile)
|
|
|
NM_002334.4(LRP4):c.3571A>C (p.Lys1191Gln)
|
|
|
NM_002334.4(LRP4):c.3597C>T (p.Gly1199=)
|
|
|
NM_002334.4(LRP4):c.3606C>T (p.Arg1202=)
|
|
|
NM_002334.4(LRP4):c.3613C>T (p.Leu1205Phe)
|
|
|
NM_002334.4(LRP4):c.3641A>G (p.Asn1214Ser)
|
rs1941000568
|
|
NM_002334.4(LRP4):c.3642T>G (p.Asn1214Lys)
|
|
|
NM_002334.4(LRP4):c.3673C>T (p.Leu1225=)
|
|
|
NM_002334.4(LRP4):c.3684C>T (p.Ala1228=)
|
|
|
NM_002334.4(LRP4):c.3696C>T (p.Thr1232=)
|
|
|
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys)
|
rs786205153
|
|
NM_002334.4(LRP4):c.3699+13T>C
|
|
|
NM_002334.4(LRP4):c.3699+19C>T
|
|
|
NM_002334.4(LRP4):c.3699+1G>A
|
|
|
NM_002334.4(LRP4):c.3699+8C>T
|
|
|
NM_002334.4(LRP4):c.3699+9C>A
|
|
|
NM_002334.4(LRP4):c.3699+9C>T
|
|
|
NM_002334.4(LRP4):c.3700-10T>C
|
rs975882066
|
|
NM_002334.4(LRP4):c.3705T>C (p.Ile1235=)
|
|
|
NM_002334.4(LRP4):c.3708G>A (p.Glu1236=)
|
rs2134797059
|
|
NM_002334.4(LRP4):c.3765A>G (p.Pro1255=)
|
|
|
NM_002334.4(LRP4):c.3780G>T (p.Leu1260=)
|
|
|
NM_002334.4(LRP4):c.378G>T (p.Leu126=)
|
|
|
NM_002334.4(LRP4):c.3829C>T (p.Arg1277Cys)
|
|
|
NM_002334.4(LRP4):c.3844A>C (p.Thr1282Pro)
|
|
|
NM_002334.4(LRP4):c.3864C>T (p.Leu1288=)
|
|
|
NM_002334.4(LRP4):c.3890T>C (p.Met1297Thr)
|
|
|
NM_002334.4(LRP4):c.3907G>A (p.Asp1303Asn)
|
rs2134796086
|
|
NM_002334.4(LRP4):c.3908A>C (p.Asp1303Ala)
|
rs777142871
|
|
NM_002334.4(LRP4):c.3911G>A (p.Arg1304Gln)
|
|
|
NM_002334.4(LRP4):c.3925+3G>A
|
rs1217353454
|
|
NM_002334.4(LRP4):c.3926-17G>A
|
|
|
NM_002334.4(LRP4):c.3926-5A>G
|
|
|
NM_002334.4(LRP4):c.3955G>A (p.Gly1319Ser)
|
rs756790038
|
|
NM_002334.4(LRP4):c.3979C>T (p.Arg1327Trp)
|
|
|
NM_002334.4(LRP4):c.4032T>C (p.Asp1344=)
|
rs2134794190
|
|
NM_002334.4(LRP4):c.4050C>G (p.Pro1350=)
|
rs2134794079
|
|
NM_002334.4(LRP4):c.408C>T (p.Gly136=)
|
|
|
NM_002334.4(LRP4):c.4102T>C (p.Ser1368Pro)
|
rs1565782170
|
|
NM_002334.4(LRP4):c.4125C>T (p.Thr1375=)
|
rs371098163
|
|
NM_002334.4(LRP4):c.4133A>G (p.His1378Arg)
|
|
|
NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser)
|
rs765240067
|
|
NM_002334.4(LRP4):c.4147G>A (p.Glu1383Lys)
|
|
|
NM_002334.4(LRP4):c.4148A>C (p.Glu1383Ala)
|
rs202151304
|
|
NM_002334.4(LRP4):c.4148A>G (p.Glu1383Gly)
|
rs202151304
|
|
NM_002334.4(LRP4):c.4149G>A (p.Glu1383=)
|
rs1181126034
|
|
NM_002334.4(LRP4):c.4175A>G (p.Tyr1392Cys)
|
rs2134793655
|
|
NM_002334.4(LRP4):c.4182C>T (p.Ser1394=)
|
|
|
NM_002334.4(LRP4):c.4197C>G (p.Val1399=)
|
|
|
NM_002334.4(LRP4):c.4229+11C>T
|
|
|
NM_002334.4(LRP4):c.4229+15G>A
|
|
|
NM_002334.4(LRP4):c.4229+20C>G
|
|
|
NM_002334.4(LRP4):c.4229+4T>C
|
rs1836121973
|
|
NM_002334.4(LRP4):c.4230-10T>C
|
rs1940930151
|
|
NM_002334.4(LRP4):c.4230-12G>A
|
|
|
NM_002334.4(LRP4):c.4234G>A (p.Ala1412Thr)
|
rs2134789997
|
|
NM_002334.4(LRP4):c.4264G>C (p.Val1422Leu)
|
rs2134789849
|
|
NM_002334.4(LRP4):c.4278G>A (p.Gly1426=)
|
rs1940926502
|
|
NM_002334.4(LRP4):c.430+4G>A
|
|
|
NM_002334.4(LRP4):c.431-3del
|
rs562071882
|
|
NM_002334.4(LRP4):c.431-9T>A
|
rs1941620373
|
|
NM_002334.4(LRP4):c.4320G>A (p.Arg1440=)
|
|
|
NM_002334.4(LRP4):c.4346G>A (p.Arg1449Gln)
|
|
|
NM_002334.4(LRP4):c.4397T>C (p.Ile1466Thr)
|
|
|
NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser)
|
rs886048349
|
|
NM_002334.4(LRP4):c.4400dup (p.Asn1467fs)
|
|
|
NM_002334.4(LRP4):c.4422G>A (p.Arg1474=)
|
|
|
NM_002334.4(LRP4):c.4424C>G (p.Ala1475Gly)
|
rs1314468807
|
|
NM_002334.4(LRP4):c.4478T>A (p.Ile1493Asn)
|
rs1451422777
|
|
NM_002334.4(LRP4):c.4485G>A (p.Lys1495=)
|
|
|
NM_002334.4(LRP4):c.4513G>C (p.Glu1505Gln)
|
|
|
NM_002334.4(LRP4):c.4557C>A (p.Gly1519=)
|
|
|
NM_002334.4(LRP4):c.4563C>T (p.Thr1521=)
|
|
|
NM_002334.4(LRP4):c.4577C>T (p.Thr1526Ile)
|
|
|
NM_002334.4(LRP4):c.4584-14_4584-10del
|
rs748959880
|
|
NM_002334.4(LRP4):c.4584-16_4584-15del
|
rs768340393
|
|
NM_002334.4(LRP4):c.4602G>A (p.Ala1534=)
|
|
|
NM_002334.4(LRP4):c.4612C>T (p.Arg1538Trp)
|
|
|
NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln)
|
rs886048348
|
|
NM_002334.4(LRP4):c.4661G>A (p.Ser1554Asn)
|
|
|
NM_002334.4(LRP4):c.4676C>T (p.Pro1559Leu)
|
|
|
NM_002334.4(LRP4):c.4693-11C>T
|
rs1409382852
|
|
NM_002334.4(LRP4):c.4693-12C>G
|
|
|
NM_002334.4(LRP4):c.4693-12C>T
|
|
|
NM_002334.4(LRP4):c.4693-16T>C
|
rs2134778241
|
|
NM_002334.4(LRP4):c.4702T>G (p.Trp1568Gly)
|
rs2134778108
|
|
NM_002334.4(LRP4):c.4727C>G (p.Thr1576Ser)
|
rs2134778058
|
|
NM_002334.4(LRP4):c.4728C>T (p.Thr1576=)
|
rs200270681
|
|
NM_002334.4(LRP4):c.4737C>A (p.Ile1579=)
|
|
|
NM_002334.4(LRP4):c.4759G>T (p.Gly1587Cys)
|
|
|
NM_002334.4(LRP4):c.4767C>G (p.Asn1589Lys)
|
rs1346806071
|
|
NM_002334.4(LRP4):c.4816G>A (p.Val1606Ile)
|
rs2134777729
|
|
NM_002334.4(LRP4):c.4837+8C>G
|
rs1243774066
|
|
NM_002334.4(LRP4):c.4837G>A (p.Gly1613Arg)
|
rs1940786470
|
|
NM_002334.4(LRP4):c.4838-8G>A
|
|
|
NM_002334.4(LRP4):c.4839G>A (p.Gly1613=)
|
rs2134776744
|
|
NM_002334.4(LRP4):c.4850G>A (p.Cys1617Tyr)
|
rs1592515719
|
|
NM_002334.4(LRP4):c.4890C>T (p.Ala1630=)
|
rs550931351
|
|
NM_002334.4(LRP4):c.489G>A (p.Glu163=)
|
rs1941618309
|
|
NM_002334.4(LRP4):c.489G>C (p.Glu163Asp)
|
rs1941618309
|
|
NM_002334.4(LRP4):c.4909T>C (p.Cys1637Arg)
|
rs2134776522
|
|
NM_002334.4(LRP4):c.4928C>G (p.Pro1643Arg)
|
rs767372563
|
|
NM_002334.4(LRP4):c.4934G>A (p.Ser1645Asn)
|
|
|
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln)
|
rs3816614
|
|
NM_002334.4(LRP4):c.4937G>C (p.Arg1646Pro)
|
rs3816614
|
|
NM_002334.4(LRP4):c.4937G>T (p.Arg1646Leu)
|
rs3816614
|
|
NM_002334.4(LRP4):c.4949T>G (p.Leu1650Arg)
|
|
|
NM_002334.4(LRP4):c.4952-10T>C
|
|
|
NM_002334.4(LRP4):c.4952-17T>C
|
|
|
NM_002334.4(LRP4):c.4952-19A>G
|
rs772798728
|
|
NM_002334.4(LRP4):c.4952-20C>A
|
|
|
NM_002334.4(LRP4):c.4985C>G (p.Thr1662Ser)
|
rs1384073340
|
|
NM_002334.4(LRP4):c.4990A>G (p.Met1664Val)
|
rs1455143794
|
|
NM_002334.4(LRP4):c.4991T>C (p.Met1664Thr)
|
rs747440221
|
|
NM_002334.4(LRP4):c.5003G>A (p.Ser1668Asn)
|
rs2134774974
|
|
NM_002334.4(LRP4):c.5016C>A (p.Pro1672=)
|
rs2134774940
|
|
NM_002334.4(LRP4):c.5049C>T (p.Thr1683=)
|
|
|
NM_002334.4(LRP4):c.5060G>A (p.Arg1687His)
|
rs751407728
|
|
NM_002334.4(LRP4):c.507T>A (p.Gly169=)
|
rs2134863376
|
|
NM_002334.4(LRP4):c.5087+12C>T
|
|
|
NM_002334.4(LRP4):c.5087+13A>G
|
|
|
NM_002334.4(LRP4):c.5087+14A>T
|
rs376251083
|
|
NM_002334.4(LRP4):c.5088-6C>T
|
|
|
NM_002334.4(LRP4):c.5109G>T (p.Arg1703Ser)
|
|
|
NM_002334.4(LRP4):c.5110C>T (p.Leu1704=)
|
|
|
NM_002334.4(LRP4):c.5113G>A (p.Gly1705Ser)
|
|
|
NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro)
|
rs560103351
|
|
NM_002334.4(LRP4):c.5136C>T (p.Asp1712=)
|
|
|
NM_002334.4(LRP4):c.513C>T (p.Thr171=)
|
|
|
NM_002334.4(LRP4):c.5140G>A (p.Val1714Ile)
|
rs1002830453
|
|
NM_002334.4(LRP4):c.514G>A (p.Asp172Asn)
|
rs780819863
|
|
NM_002334.4(LRP4):c.5155+16C>T
|
|
|
NM_002334.4(LRP4):c.5155+20C>G
|
|
|
NM_002334.4(LRP4):c.5156-11A>G
|
|
|
NM_002334.4(LRP4):c.5162G>A (p.Gly1721Glu)
|
rs2134765636
|
|
NM_002334.4(LRP4):c.5168A>G (p.His1723Arg)
|
|
|
NM_002334.4(LRP4):c.5194C>T (p.Leu1732Phe)
|
rs1447336134
|
|
NM_002334.4(LRP4):c.5198G>A (p.Ser1733Asn)
|
rs2134765445
|
|
NM_002334.4(LRP4):c.52+6C>A
|
|
|
NM_002334.4(LRP4):c.5243+6T>C
|
rs376294734
|
|
NM_002334.4(LRP4):c.5244-6C>T
|
|
|
NM_002334.4(LRP4):c.5259_5267del (p.Lys1753_Asp1756delinsAsn)
|
rs1592509652
|
|
NM_002334.4(LRP4):c.525T>A (p.Asp175Glu)
|
|
|
NM_002334.4(LRP4):c.5265T>G (p.Thr1755=)
|
|
|
NM_002334.4(LRP4):c.5283C>A (p.Asn1761Lys)
|
|
|
NM_002334.4(LRP4):c.5298C>T (p.Asn1766=)
|
rs2134760244
|
|
NM_002334.4(LRP4):c.53-12C>G
|
|
|
NM_002334.4(LRP4):c.53-15T>C
|
|
|
NM_002334.4(LRP4):c.53-6G>A
|
|
|
NM_002334.4(LRP4):c.5307C>T (p.Tyr1769=)
|
|
|
NM_002334.4(LRP4):c.5308C>A (p.Arg1770=)
|
|
|
NM_002334.4(LRP4):c.5316C>T (p.Ser1772=)
|
rs750830696
|
|
NM_002334.4(LRP4):c.5319A>G (p.Thr1773=)
|
|
|
NM_002334.4(LRP4):c.5357T>C (p.Met1786Thr)
|
|
|
NM_002334.4(LRP4):c.5386-12T>C
|
|
|
NM_002334.4(LRP4):c.5386-4C>G
|
|
|
NM_002334.4(LRP4):c.5402A>G (p.Asn1801Ser)
|
|
|
NM_002334.4(LRP4):c.5409C>T (p.Thr1803=)
|
|
|
NM_002334.4(LRP4):c.5414AGA[1] (p.Lys1806del)
|
rs769465803
|
|
NM_002334.4(LRP4):c.5426T>A (p.Ile1809Asn)
|
rs373162825
|
|
NM_002334.4(LRP4):c.5441G>C (p.Cys1814Ser)
|
rs760515633
|
|
NM_002334.4(LRP4):c.547+14G>A
|
|
|
NM_002334.4(LRP4):c.547+14G>C
|
rs1243797516
|
|
NM_002334.4(LRP4):c.547+1G>A
|
rs762425885
|
|
NM_002334.4(LRP4):c.548-18C>G
|
rs779705585
|
|
NM_002334.4(LRP4):c.548-19A>T
|
|
|
NM_002334.4(LRP4):c.5493C>T (p.Ser1831=)
|
rs911721294
|
|
NM_002334.4(LRP4):c.5498G>T (p.Arg1833Leu)
|
|
|
NM_002334.4(LRP4):c.5499G>C (p.Arg1833=)
|
rs2134750971
|
|
NM_002334.4(LRP4):c.54C>T (p.Gly18=)
|
rs372935440
|
|
NM_002334.4(LRP4):c.5500G>C (p.Gly1834Arg)
|
rs142462686
|
|
NM_002334.4(LRP4):c.5504dup (p.Leu1836fs)
|
|
|
NM_002334.4(LRP4):c.5505C>G (p.Gly1835=)
|
|
|
NM_002334.4(LRP4):c.5506C>G (p.Leu1836Val)
|
rs2134750890
|
|
NM_002334.4(LRP4):c.5506C>T (p.Leu1836Phe)
|
|
|
NM_002334.4(LRP4):c.5507T>C (p.Leu1836Pro)
|
|
|
NM_002334.4(LRP4):c.5508C>T (p.Leu1836=)
|
|
|
NM_002334.4(LRP4):c.5510T>C (p.Leu1837Pro)
|
|
|
NM_002334.4(LRP4):c.5512C>T (p.Arg1838Trp)
|
|
|
NM_002334.4(LRP4):c.5513G>T (p.Arg1838Leu)
|
|
|
NM_002334.4(LRP4):c.5524T>C (p.Cys1842Arg)
|
|
|
NM_002334.4(LRP4):c.5532G>A (p.Lys1844=)
|
|
|
NM_002334.4(LRP4):c.5538C>T (p.Asp1846=)
|
|
|
NM_002334.4(LRP4):c.5541G>T (p.Thr1847=)
|
|
|
NM_002334.4(LRP4):c.5550C>T (p.Ile1850=)
|
|
|
NM_002334.4(LRP4):c.5577C>G (p.Asp1859Glu)
|
|
|
NM_002334.4(LRP4):c.5607G>C (p.Glu1869Asp)
|
|
|
NM_002334.4(LRP4):c.5608C>T (p.Gln1870Ter)
|
|
|
NM_002334.4(LRP4):c.560C>T (p.Pro187Leu)
|
|
|
NM_002334.4(LRP4):c.5610G>A (p.Gln1870=)
|
|
|
NM_002334.4(LRP4):c.5613T>C (p.Ser1871=)
|
|
|
NM_002334.4(LRP4):c.5633C>T (p.Thr1878Ile)
|
rs1940461595
|
|
NM_002334.4(LRP4):c.5678_5682del (p.Trp1893fs)
|
|
|
NM_002334.4(LRP4):c.5698T>C (p.Ser1900Pro)
|
|
|
NM_002334.4(LRP4):c.5715C>G (p.Val1905=)
|
rs2134750322
|
|
NM_002334.4(LRP4):c.591G>A (p.Gln197=)
|
rs1199299804
|
|
NM_002334.4(LRP4):c.600T>C (p.Tyr200=)
|
|
|
NM_002334.4(LRP4):c.611T>C (p.Ile204Thr)
|
rs2134862174
|
|
NM_002334.4(LRP4):c.616G>A (p.Asp206Asn)
|
|
|
NM_002334.4(LRP4):c.624C>T (p.Tyr208=)
|
|
|
NM_002334.4(LRP4):c.637G>A (p.Asp213Asn)
|
|
|
NM_002334.4(LRP4):c.664G>A (p.Glu222Lys)
|
|
|
NM_002334.4(LRP4):c.677-13T>C
|
|
|
NM_002334.4(LRP4):c.677-6C>T
|
|
|
NM_002334.4(LRP4):c.677-7T>G
|
rs1244833731
|
|
NM_002334.4(LRP4):c.682C>T (p.His228Tyr)
|
rs2134861515
|
|
NM_002334.4(LRP4):c.69C>G (p.Pro23=)
|
|
|
NM_002334.4(LRP4):c.69C>T (p.Pro23=)
|
rs370359994
|
|
NM_002334.4(LRP4):c.708C>T (p.Phe236=)
|
rs2134861393
|
|
NM_002334.4(LRP4):c.713G>A (p.Cys238Tyr)
|
rs770285774
|
|
NM_002334.4(LRP4):c.717C>T (p.Asp239=)
|
|
|
NM_002334.4(LRP4):c.762G>A (p.Ala254=)
|
|
|
NM_002334.4(LRP4):c.774C>T (p.Asp258=)
|
rs2134861192
|
|
NM_002334.4(LRP4):c.786G>A (p.Glu262=)
|
|
|
NM_002334.4(LRP4):c.796+18A>T
|
|
|
NM_002334.4(LRP4):c.796+20T>C
|
|
|
NM_002334.4(LRP4):c.796+7G>A
|
|
|
NM_002334.4(LRP4):c.797-3C>T
|
rs1941546855
|
|
NM_002334.4(LRP4):c.798C>T (p.Thr266=)
|
rs2134856058
|
|
NM_002334.4(LRP4):c.814G>A (p.Ala272Thr)
|
|
|
NM_002334.4(LRP4):c.820C>G (p.Gln274Glu)
|
|
|
NM_002334.4(LRP4):c.827G>A (p.Arg276His)
|
rs1592543038
|
|
NM_002334.4(LRP4):c.83G>A (p.Gly28Asp)
|
rs1183268699
|
|
NM_002334.4(LRP4):c.841C>T (p.Arg281Cys)
|
|
|
NM_002334.4(LRP4):c.862C>G (p.Arg288Gly)
|
|
|
NM_002334.4(LRP4):c.863G>A (p.Arg288His)
|
|
|
NM_002334.4(LRP4):c.86G>A (p.Arg29Gln)
|
|
|
NM_002334.4(LRP4):c.873G>A (p.Gly291=)
|
|
|
NM_002334.4(LRP4):c.879C>T (p.Asp293=)
|
|
|
NM_002334.4(LRP4):c.887C>G (p.Ala296Gly)
|
rs1941543958
|
|
NM_002334.4(LRP4):c.897C>T (p.Ser299=)
|
|
|
NM_002334.4(LRP4):c.898G>A (p.Asp300Asn)
|
|
|
NM_002334.4(LRP4):c.922+13G>C
|
|
|
NM_002334.4(LRP4):c.923-11C>T
|
|
|
NM_002334.4(LRP4):c.923-14del
|
|
|
NM_002334.4(LRP4):c.923-8C>T
|
|
|
NM_002334.4(LRP4):c.926G>A (p.Ser309Asn)
|
|
|
NM_002334.4(LRP4):c.933A>C (p.Gln311His)
|
|
|
NM_002334.4(LRP4):c.952C>G (p.Leu318Val)
|
rs2134854486
|
|
NM_002334.4(LRP4):c.970T>A (p.Cys324Ser)
|
rs2134854401
|
|
NM_002334.4(LRP4):c.996C>T (p.Asn332=)
|
|
|
NM_003900.5(SQSTM1):c.*2_*4del (p.Ter441=)
|
rs765964997
|
|
NM_003900.5(SQSTM1):c.1001G>A (p.Gly334Glu)
|
|
|
NM_003900.5(SQSTM1):c.1002A>T (p.Gly334=)
|
|
|
NM_003900.5(SQSTM1):c.1005TGA[1] (p.Asp337del)
|
|
|
NM_003900.5(SQSTM1):c.1006G>A (p.Asp336Asn)
|
rs1554091442
|
|
NM_003900.5(SQSTM1):c.1008T>C (p.Asp336=)
|
|
|
NM_003900.5(SQSTM1):c.1014G>C (p.Trp338Cys)
|
|
|
NM_003900.5(SQSTM1):c.1030A>C (p.Lys344Gln)
|
rs1554091448
|
|
NM_003900.5(SQSTM1):c.1039G>A (p.Asp347Asn)
|
|
|
NM_003900.5(SQSTM1):c.1045T>A (p.Ser349Thr)
|
rs774512680
|
|
NM_003900.5(SQSTM1):c.1049C>G (p.Thr350Arg)
|
|
|
NM_003900.5(SQSTM1):c.104C>G (p.Ala35Gly)
|
|
|
NM_003900.5(SQSTM1):c.1050A>C (p.Thr350=)
|
rs2113512674
|
|
NM_003900.5(SQSTM1):c.1054G>C (p.Glu352Gln)
|
rs765610848
|
|
NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter)
|
rs765610848
|
|
NM_003900.5(SQSTM1):c.1058T>C (p.Leu353Pro)
|
|
|
NM_003900.5(SQSTM1):c.1060C>A (p.Gln354Lys)
|
|
|
NM_003900.5(SQSTM1):c.1060del (p.Gln354fs)
|
rs1758356210
|
|
NM_003900.5(SQSTM1):c.1062G>C (p.Gln354His)
|
|
|
NM_003900.5(SQSTM1):c.1062G>T (p.Gln354His)
|
|
|
NM_003900.5(SQSTM1):c.1069C>G (p.Gln357Glu)
|
rs2113512735
|
|
NM_003900.5(SQSTM1):c.1070A>G (p.Gln357Arg)
|
|
|
NM_003900.5(SQSTM1):c.1071G>T (p.Gln357His)
|
|
|
NM_003900.5(SQSTM1):c.1072A>G (p.Met358Val)
|
rs2113512757
|
|
NM_003900.5(SQSTM1):c.1074G>A (p.Met358Ile)
|
|
|
NM_003900.5(SQSTM1):c.1081T>G (p.Ser361Ala)
|
|
|
NM_003900.5(SQSTM1):c.1087G>A (p.Gly363Arg)
|
|
|
NM_003900.5(SQSTM1):c.1089G>A (p.Gly363=)
|
rs2113512810
|
|
NM_003900.5(SQSTM1):c.1095C>T (p.Ser365=)
|
|
|
NM_003900.5(SQSTM1):c.1097C>G (p.Ser366Cys)
|
rs1582022482
|
|
NM_003900.5(SQSTM1):c.109_115delinsC (p.Ala37_Ala39delinsPro)
|
|
|
NM_003900.5(SQSTM1):c.1104C>A (p.Asp368Glu)
|
|
|
NM_003900.5(SQSTM1):c.1109C>T (p.Ser370Phe)
|
rs2113512860
|
|
NM_003900.5(SQSTM1):c.1111C>A (p.Gln371Lys)
|
|
|
NM_003900.5(SQSTM1):c.1111C>T (p.Gln371Ter)
|
|
|
NM_003900.5(SQSTM1):c.1128G>A (p.Gly376=)
|
rs569052431
|
|
NM_003900.5(SQSTM1):c.1129C>G (p.Leu377Val)
|
|
|
NM_003900.5(SQSTM1):c.1134G>A (p.Lys378=)
|
rs778833279
|
|
NM_003900.5(SQSTM1):c.113C>A (p.Ala38Glu)
|
rs1298281008
|
|
NM_003900.5(SQSTM1):c.1146G>A (p.Leu382=)
|
|
|
NM_003900.5(SQSTM1):c.1147T>C (p.Tyr383His)
|
|
|
NM_003900.5(SQSTM1):c.1149C>T (p.Tyr383=)
|
|
|
NM_003900.5(SQSTM1):c.114G>T (p.Ala38=)
|
|
|
NM_003900.5(SQSTM1):c.1150C>G (p.Pro384Ala)
|
|
|
NM_003900.5(SQSTM1):c.1150C>T (p.Pro384Ser)
|
|
|
NM_003900.5(SQSTM1):c.1151C>T (p.Pro384Leu)
|
|
|
NM_003900.5(SQSTM1):c.1152A>C (p.Pro384=)
|
rs944423329
|
|
NM_003900.5(SQSTM1):c.1152A>G (p.Pro384=)
|
|
|
NM_003900.5(SQSTM1):c.1154A>G (p.His385Arg)
|
rs2113513106
|
|
NM_003900.5(SQSTM1):c.1156C>G (p.Leu386Val)
|
|
|
NM_003900.5(SQSTM1):c.1158C>T (p.Leu386=)
|
|
|
NM_003900.5(SQSTM1):c.1161G>A (p.Pro387=)
|
rs372271201
|
|
NM_003900.5(SQSTM1):c.1161G>T (p.Pro387=)
|
|
|
NM_003900.5(SQSTM1):c.1165+10C>T
|
|
|
NM_003900.5(SQSTM1):c.1165+12A>G
|
|
|
NM_003900.5(SQSTM1):c.1165+7G>T
|
|
|
NM_003900.5(SQSTM1):c.1165+9del
|
|
|
NM_003900.5(SQSTM1):c.1166-12C>T
|
rs201463748
|
|
NM_003900.5(SQSTM1):c.1166-14_1166-11del
|
rs538853972
|
|
NM_003900.5(SQSTM1):c.1166-20C>T
|
|
|
NM_003900.5(SQSTM1):c.1166-2A>G
|
|
|
NM_003900.5(SQSTM1):c.1168G>A (p.Ala390Thr)
|
rs2113524011
|
|
NM_003900.5(SQSTM1):c.1170T>C (p.Ala390=)
|
rs1440412378
|
|
NM_003900.5(SQSTM1):c.1170del (p.Asp391fs)
|
rs1758558921
|
|
NM_003900.5(SQSTM1):c.1171G>A (p.Asp391Asn)
|
rs2113524028
|
|
NM_003900.5(SQSTM1):c.1172A>G (p.Asp391Gly)
|
|
|
NM_003900.5(SQSTM1):c.1175del (p.Pro392fs)
|
|
|
NM_003900.5(SQSTM1):c.117G>A (p.Ala39=)
|
rs1449666849
|
|
NM_003900.5(SQSTM1):c.1181_*644del (p.Leu394fs)
|
|
|
NM_003900.5(SQSTM1):c.1184T>C (p.Ile395Thr)
|
rs1471635040
|
|
NM_003900.5(SQSTM1):c.1185dup (p.Glu396Ter)
|
rs1254158201
|
|
NM_003900.5(SQSTM1):c.1188G>A (p.Glu396=)
|
|
|
NM_003900.5(SQSTM1):c.1190C>A (p.Ser397Tyr)
|
|
|
NM_003900.5(SQSTM1):c.1198C>A (p.Gln400Lys)
|
|
|
NM_003900.5(SQSTM1):c.1200G>C (p.Gln400His)
|
|
|
NM_003900.5(SQSTM1):c.1201A>T (p.Met401Leu)
|
rs201795943
|
|
NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)
|
|
|
NM_003900.5(SQSTM1):c.1207T>G (p.Ser403Ala)
|
|
|
NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr)
|
rs1247551175
|
|
NM_003900.5(SQSTM1):c.1215C>G (p.Gly405=)
|
rs368933511
|
|
NM_003900.5(SQSTM1):c.121C>T (p.Pro41Ser)
|
rs1377640860
|
|
NM_003900.5(SQSTM1):c.1237C>G (p.Leu413Val)
|
|
|
NM_003900.5(SQSTM1):c.1240A>T (p.Thr414Ser)
|
|
|
NM_003900.5(SQSTM1):c.1241C>T (p.Thr414Ile)
|
|
|
NM_003900.5(SQSTM1):c.1242C>A (p.Thr414=)
|
rs1554092111
|
|
NM_003900.5(SQSTM1):c.1249C>T (p.Leu417=)
|
|
|
NM_003900.5(SQSTM1):c.1254G>C (p.Gln418His)
|
|
|
NM_003900.5(SQSTM1):c.1263C>T (p.Asn421=)
|
rs1383894920
|
|
NM_003900.5(SQSTM1):c.1269C>T (p.Asp423=)
|
|
|
NM_003900.5(SQSTM1):c.1270A>G (p.Ile424Val)
|
|
|
NM_003900.5(SQSTM1):c.1276G>A (p.Ala426Thr)
|
rs2113524491
|
|
NM_003900.5(SQSTM1):c.127C>T (p.Pro43Ser)
|
|
|
NM_003900.5(SQSTM1):c.1288A>C (p.Thr430Pro)
|
rs770118706
|
|
NM_003900.5(SQSTM1):c.1297T>C (p.Tyr433His)
|
rs2113524577
|
|
NM_003900.5(SQSTM1):c.1302A>C (p.Ser434=)
|
|
|
NM_003900.5(SQSTM1):c.1310C>T (p.Pro437Leu)
|
|
|
NM_003900.5(SQSTM1):c.1313C>G (p.Pro438Arg)
|
|
|
NM_003900.5(SQSTM1):c.1314G>C (p.Pro438=)
|
|
|
NM_003900.5(SQSTM1):c.1315C>T (p.Pro439Ser)
|
|
|
NM_003900.5(SQSTM1):c.1316dup (p.Leu440fs)
|
|
|
NM_003900.5(SQSTM1):c.1317G>A (p.Pro439=)
|
|
|
NM_003900.5(SQSTM1):c.1317G>C (p.Pro439=)
|
|
|
NM_003900.5(SQSTM1):c.1320G>A (p.Leu440=)
|
rs753600779
|
|
NM_003900.5(SQSTM1):c.133G>C (p.Glu45Gln)
|
|
|
NM_003900.5(SQSTM1):c.136C>T (p.Arg46Trp)
|
|
|
NM_003900.5(SQSTM1):c.137G>C (p.Arg46Pro)
|
|
|
NM_003900.5(SQSTM1):c.147C>T (p.Ser49=)
|
rs1258824064
|
|
NM_003900.5(SQSTM1):c.15C>T (p.Thr5=)
|
rs756670021
|
|
NM_003900.5(SQSTM1):c.165C>T (p.Phe55=)
|
rs886060501
|
|
NM_003900.5(SQSTM1):c.16G>T (p.Val6Leu)
|
rs778461636
|
|
NM_003900.5(SQSTM1):c.171G>T (p.Ala57=)
|
|
|
NM_003900.5(SQSTM1):c.173_175del (p.Leu58del)
|
rs2113480023
|
|
NM_003900.5(SQSTM1):c.178C>T (p.Pro60Ser)
|
rs1411304344
|
|
NM_003900.5(SQSTM1):c.183C>A (p.Gly61=)
|
rs767340839
|
|
NM_003900.5(SQSTM1):c.185_205+48delinsCACTACAGAGGTCCTGGTCTGTGCGGGGGCCTCCAGGCCTTCTGCGCTGCAGCCACTGCGCTGTGTCCCCTGTGATTGTCAATCTCCCTAAAGATGGCCCAGAGCAGTGCGGCCTGAATC
|
|
|
NM_003900.5(SQSTM1):c.186C>T (p.Gly62=)
|
|
|
NM_003900.5(SQSTM1):c.192G>A (p.Gln64=)
|
|
|
NM_003900.5(SQSTM1):c.193G>A (p.Ala65Thr)
|
|
|
NM_003900.5(SQSTM1):c.194C>A (p.Ala65Glu)
|
|
|
NM_003900.5(SQSTM1):c.195G>T (p.Ala65=)
|
|
|
NM_003900.5(SQSTM1):c.205+11C>G
|
|
|
NM_003900.5(SQSTM1):c.205+12G>C
|
rs869101530
|
|
NM_003900.5(SQSTM1):c.205+12G>T
|
rs869101530
|
|
NM_003900.5(SQSTM1):c.205+14G>A
|
|
|
NM_003900.5(SQSTM1):c.205+14G>C
|
|
|
NM_003900.5(SQSTM1):c.205+16A>C
|
|
|
NM_003900.5(SQSTM1):c.205+18C>G
|
rs1757759662
|
|
NM_003900.5(SQSTM1):c.205+18C>T
|
|
|
NM_003900.5(SQSTM1):c.205+19G>T
|
|
|
NM_003900.5(SQSTM1):c.205+2T>C
|
|
|
NM_003900.5(SQSTM1):c.205+7G>A
|
rs912066047
|
|
NM_003900.5(SQSTM1):c.205+7G>T
|
|
|
NM_003900.5(SQSTM1):c.206-11A>G
|
|
|
NM_003900.5(SQSTM1):c.206-2A>G
|
|
|
NM_003900.5(SQSTM1):c.206-4C>G
|
rs370778198
|
|
NM_003900.5(SQSTM1):c.206-4C>T
|
rs370778198
|
|
NM_003900.5(SQSTM1):c.206-7_206-4del
|
rs779766449
|
|
NM_003900.5(SQSTM1):c.206-8C>T
|
|
|
NM_003900.5(SQSTM1):c.206-9A>G
|
rs2113484953
|
|
NM_003900.5(SQSTM1):c.210G>C (p.Glu70Asp)
|
rs2113484986
|
|
NM_003900.5(SQSTM1):c.211G>A (p.Asp71Asn)
|
|
|
NM_003900.5(SQSTM1):c.224T>C (p.Val75Ala)
|
rs1757838607
|
|
NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter)
|
rs1425863340
|
|
NM_003900.5(SQSTM1):c.24C>T (p.Ala8=)
|
|
|
NM_003900.5(SQSTM1):c.252A>C (p.Thr84=)
|
rs752464933
|
|
NM_003900.5(SQSTM1):c.254T>C (p.Met85Thr)
|
|
|
NM_003900.5(SQSTM1):c.257C>A (p.Ala86Asp)
|
|
|
NM_003900.5(SQSTM1):c.259A>G (p.Met87Val)
|
|
|
NM_003900.5(SQSTM1):c.259_260insATGCCTTTTCCAGTGACGAGGAATTGACGAGGAAT (p.Met87fs)
|
|
|
NM_003900.5(SQSTM1):c.25T>C (p.Tyr9His)
|
|
|
NM_003900.5(SQSTM1):c.260T>C (p.Met87Thr)
|
|
|
NM_003900.5(SQSTM1):c.261G>A (p.Met87Ile)
|
rs1274176534
|
|
NM_003900.5(SQSTM1):c.301+10T>A
|
|
|
NM_003900.5(SQSTM1):c.301+12C>T
|
rs141530539
|
|
NM_003900.5(SQSTM1):c.301+13_301+24del
|
rs1582006453
|
|
NM_003900.5(SQSTM1):c.301+1G>T
|
rs2113485289
|
|
NM_003900.5(SQSTM1):c.301+20G>A
|
|
|
NM_003900.5(SQSTM1):c.301+6G>C
|
|
|
NM_003900.5(SQSTM1):c.302-10C>A
|
|
|
NM_003900.5(SQSTM1):c.302-10C>T
|
|
|
NM_003900.5(SQSTM1):c.302-11C>T
|
|
|
NM_003900.5(SQSTM1):c.302-13A>G
|
|
|
NM_003900.5(SQSTM1):c.302-15T>C
|
|
|
NM_003900.5(SQSTM1):c.302-20T>C
|
|
|
NM_003900.5(SQSTM1):c.302-4G>A
|
rs1757883398
|
|
NM_003900.5(SQSTM1):c.309_311del (p.Glu104del)
|
rs2113487449
|
|
NM_003900.5(SQSTM1):c.309dup (p.Glu104fs)
|
|
|
NM_003900.5(SQSTM1):c.312G>A (p.Glu104=)
|
|
|
NM_003900.5(SQSTM1):c.313T>G (p.Cys105Gly)
|
|
|
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp)
|
rs886060503
|
|
NM_003900.5(SQSTM1):c.31C>T (p.Leu11=)
|
|
|
NM_003900.5(SQSTM1):c.320G>A (p.Arg107Gln)
|
|
|
NM_003900.5(SQSTM1):c.327C>T (p.His109=)
|
rs2113487546
|
|
NM_003900.5(SQSTM1):c.329G>A (p.Arg110His)
|
|
|
NM_003900.5(SQSTM1):c.333A>C (p.Pro111=)
|
|
|
NM_003900.5(SQSTM1):c.336G>A (p.Pro112=)
|
|
|
NM_003900.5(SQSTM1):c.339T>C (p.Cys113=)
|
|
|
NM_003900.5(SQSTM1):c.347A>G (p.Glu116Gly)
|
rs1757886934
|
|
NM_003900.5(SQSTM1):c.34G>C (p.Gly12Arg)
|
|
|
NM_003900.5(SQSTM1):c.355C>G (p.Arg119Gly)
|
|
|
NM_003900.5(SQSTM1):c.356G>A (p.Arg119His)
|
|
|
NM_003900.5(SQSTM1):c.359A>T (p.Asn120Ile)
|
rs1562654519
|
|
NM_003900.5(SQSTM1):c.35G>T (p.Gly12Val)
|
rs866832054
|
|
NM_003900.5(SQSTM1):c.363G>A (p.Met121Ile)
|
|
|
NM_003900.5(SQSTM1):c.367C>T (p.His123Tyr)
|
|
|
NM_003900.5(SQSTM1):c.36C>G (p.Gly12=)
|
|
|
NM_003900.5(SQSTM1):c.36C>T (p.Gly12=)
|
|
|
NM_003900.5(SQSTM1):c.374A>T (p.Asn125Ile)
|
|
|
NM_003900.5(SQSTM1):c.375T>C (p.Asn125=)
|
rs2113487764
|
|
NM_003900.5(SQSTM1):c.37A>G (p.Lys13Glu)
|
|
|
NM_003900.5(SQSTM1):c.381C>G (p.Ile127Met)
|
rs1582007866
|
|
NM_003900.5(SQSTM1):c.385G>T (p.Asp129Tyr)
|
rs753212399
|
|
NM_003900.5(SQSTM1):c.387T>C (p.Asp129=)
|
|
|
NM_003900.5(SQSTM1):c.389G>T (p.Gly130Val)
|
|
|
NM_003900.5(SQSTM1):c.392G>A (p.Cys131Tyr)
|
|
|
NM_003900.5(SQSTM1):c.395A>G (p.Asn132Ser)
|
|
|
NM_003900.5(SQSTM1):c.397G>A (p.Gly133Arg)
|
|
|
NM_003900.5(SQSTM1):c.3G>C (p.Met1Ile)
|
|
|
NM_003900.5(SQSTM1):c.401C>T (p.Pro134Leu)
|
rs372480231
|
|
NM_003900.5(SQSTM1):c.402T>C (p.Pro134=)
|
|
|
NM_003900.5(SQSTM1):c.411A>G (p.Gly137=)
|
rs2113487897
|
|
NM_003900.5(SQSTM1):c.415del (p.Arg139fs)
|
rs2113487920
|
|
NM_003900.5(SQSTM1):c.429C>T (p.Ser143=)
|
rs374417389
|
|
NM_003900.5(SQSTM1):c.434G>C (p.Cys145Ser)
|
|
|
NM_003900.5(SQSTM1):c.436C>T (p.Pro146Ser)
|
|
|
NM_003900.5(SQSTM1):c.436_462dup (p.Cys154_Glu155insProAspTyrAspLeuCysSerValCys)
|
|
|
NM_003900.5(SQSTM1):c.43G>A (p.Asp15Asn)
|
|
|
NM_003900.5(SQSTM1):c.445G>A (p.Asp149Asn)
|
|
|
NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)
|
|
|
NM_003900.5(SQSTM1):c.461G>T (p.Cys154Phe)
|
|
|
NM_003900.5(SQSTM1):c.462C>T (p.Cys154=)
|
rs775988188
|
|
NM_003900.5(SQSTM1):c.463G>A (p.Glu155Lys)
|
|
|
NM_003900.5(SQSTM1):c.465G>A (p.Glu155=)
|
|
|
NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr)
|
rs773552098
|
|
NM_003900.5(SQSTM1):c.473G>A (p.Gly158Asp)
|
|
|
NM_003900.5(SQSTM1):c.474C>T (p.Gly158=)
|
rs35266480
|
|
NM_003900.5(SQSTM1):c.480C>T (p.His160=)
|
|
|
NM_003900.5(SQSTM1):c.482G>A (p.Arg161Gln)
|
rs118160361
|
|
NM_003900.5(SQSTM1):c.482G>T (p.Arg161Leu)
|
|
|
NM_003900.5(SQSTM1):c.486G>A (p.Gly162=)
|
rs1284664878
|
|
NM_003900.5(SQSTM1):c.489C>T (p.His163=)
|
|
|
NM_003900.5(SQSTM1):c.499G>A (p.Ala167Thr)
|
|
|
NM_003900.5(SQSTM1):c.499_504del (p.Ala167_Phe168del)
|
|
|
NM_003900.5(SQSTM1):c.509G>A (p.Ser170Asn)
|
|
|
NM_003900.5(SQSTM1):c.511C>A (p.Pro171Thr)
|
|
|
NM_003900.5(SQSTM1):c.515T>A (p.Phe172Tyr)
|
|
|
NM_003900.5(SQSTM1):c.522C>T (p.His174=)
|
|
|
NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs)
|
rs1331685476
|
|
NM_003900.5(SQSTM1):c.527C>G (p.Ser176Cys)
|
rs1229776140
|
|
NM_003900.5(SQSTM1):c.529G>C (p.Glu177Gln)
|
|
|
NM_003900.5(SQSTM1):c.530A>C (p.Glu177Ala)
|
rs1392938040
|
|
NM_003900.5(SQSTM1):c.531+14C>G
|
|
|
NM_003900.5(SQSTM1):c.531+15dup
|
rs2113488538
|
|
NM_003900.5(SQSTM1):c.531+16G>A
|
|
|
NM_003900.5(SQSTM1):c.531+16G>T
|
|
|
NM_003900.5(SQSTM1):c.531+7A>G
|
rs2113488503
|
|
NM_003900.5(SQSTM1):c.532-18T>C
|
|
|
NM_003900.5(SQSTM1):c.532-5C>T
|
|
|
NM_003900.5(SQSTM1):c.532-6C>T
|
rs2113488787
|
|
NM_003900.5(SQSTM1):c.532-7C>A
|
rs770329828
|
|
NM_003900.5(SQSTM1):c.532-9C>T
|
|
|
NM_003900.5(SQSTM1):c.539C>T (p.Ser180Leu)
|
|
|
NM_003900.5(SQSTM1):c.556C>T (p.Arg186Trp)
|
|
|
NM_003900.5(SQSTM1):c.561G>C (p.Lys187Asn)
|
rs1757907176
|
|
NM_003900.5(SQSTM1):c.575A>G (p.His192Arg)
|
rs1562655554
|
|
NM_003900.5(SQSTM1):c.579C>T (p.Phe193=)
|
|
|
NM_003900.5(SQSTM1):c.57G>A (p.Glu19=)
|
rs1582002994
|
|
NM_003900.5(SQSTM1):c.580G>A (p.Gly194Arg)
|
|
|
NM_003900.5(SQSTM1):c.580G>C (p.Gly194Arg)
|
rs373585056
|
|
NM_003900.5(SQSTM1):c.581G>A (p.Gly194Glu)
|
|
|
NM_003900.5(SQSTM1):c.588A>G (p.Pro196=)
|
|
|
NM_003900.5(SQSTM1):c.590G>A (p.Gly197Glu)
|
|
|
NM_003900.5(SQSTM1):c.5C>T (p.Ala2Val)
|
rs377371202
|
|
NM_003900.5(SQSTM1):c.604C>T (p.Pro202Ser)
|
|
|
NM_003900.5(SQSTM1):c.606A>G (p.Pro202=)
|
rs2113489068
|
|
NM_003900.5(SQSTM1):c.608C>A (p.Pro203Gln)
|
|
|
NM_003900.5(SQSTM1):c.608C>T (p.Pro203Leu)
|
|
|
NM_003900.5(SQSTM1):c.609A>G (p.Pro203=)
|
rs1253593077
|
|
NM_003900.5(SQSTM1):c.615C>T (p.Asn205=)
|
rs771036207
|
|
NM_003900.5(SQSTM1):c.620G>A (p.Ser207Asn)
|
|
|
NM_003900.5(SQSTM1):c.621C>T (p.Ser207=)
|
|
|
NM_003900.5(SQSTM1):c.622C>A (p.Pro208Thr)
|
rs1256909021
|
|
NM_003900.5(SQSTM1):c.623C>T (p.Pro208Leu)
|
rs1757909856
|
|
NM_003900.5(SQSTM1):c.626G>A (p.Arg209His)
|
rs1303154345
|
|
NM_003900.5(SQSTM1):c.626G>C (p.Arg209Pro)
|
|
|
NM_003900.5(SQSTM1):c.628C>T (p.Pro210Ser)
|
rs1370363543
|
|
NM_003900.5(SQSTM1):c.629CTC[1] (p.Pro211del)
|
rs747274001
|
|
NM_003900.5(SQSTM1):c.631C>T (p.Pro211Ser)
|
|
|
NM_003900.5(SQSTM1):c.634C>G (p.Arg212Gly)
|
rs201263163
|
|
NM_003900.5(SQSTM1):c.634C>T (p.Arg212Cys)
|
rs201263163
|
|
NM_003900.5(SQSTM1):c.635G>A (p.Arg212His)
|
|
|
NM_003900.5(SQSTM1):c.635G>C (p.Arg212Pro)
|
|
|
NM_003900.5(SQSTM1):c.639A>G (p.Ala213=)
|
|
|
NM_003900.5(SQSTM1):c.654T>C (p.Pro218=)
|
rs2113489256
|
|
NM_003900.5(SQSTM1):c.662C>T (p.Thr221Met)
|
rs199663339
|
|
NM_003900.5(SQSTM1):c.673+15G>A
|
|
|
NM_003900.5(SQSTM1):c.673+19C>A
|
|
|
NM_003900.5(SQSTM1):c.673+19C>T
|
|
|
NM_003900.5(SQSTM1):c.673+9T>G
|
rs2113489349
|
|
NM_003900.5(SQSTM1):c.674-11A>G
|
|
|
NM_003900.5(SQSTM1):c.674-13G>A
|
rs2113491112
|
|
NM_003900.5(SQSTM1):c.674-18T>G
|
rs1317780724
|
|
NM_003900.5(SQSTM1):c.674-5C>T
|
|
|
NM_003900.5(SQSTM1):c.674-7dup
|
rs761346520
|
|
NM_003900.5(SQSTM1):c.674-8A>G
|
|
|
NM_003900.5(SQSTM1):c.677C>G (p.Ser226Cys)
|
|
|
NM_003900.5(SQSTM1):c.684A>G (p.Pro228=)
|
|
|
NM_003900.5(SQSTM1):c.687G>C (p.Ser229=)
|
rs140341924
|
|
NM_003900.5(SQSTM1):c.698G>C (p.Ser233Thr)
|
|
|
NM_003900.5(SQSTM1):c.69C>T (p.Phe23=)
|
rs766419538
|
|
NM_003900.5(SQSTM1):c.703A>G (p.Asn235Asp)
|
rs1467107148
|
|
NM_003900.5(SQSTM1):c.705T>C (p.Asn235=)
|
|
|
NM_003900.5(SQSTM1):c.707T>G (p.Phe236Cys)
|
|
|
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del)
|
rs796052214
|
|
NM_003900.5(SQSTM1):c.718G>A (p.Val240Ile)
|
|
|
NM_003900.5(SQSTM1):c.723G>A (p.Gly241=)
|
rs889431769
|
|
NM_003900.5(SQSTM1):c.726G>A (p.Glu242=)
|
|
|
NM_003900.5(SQSTM1):c.728G>C (p.Ser243Thr)
|
|
|
NM_003900.5(SQSTM1):c.748C>T (p.Pro250Ser)
|
|
|
NM_003900.5(SQSTM1):c.751C>T (p.Leu251=)
|
|
|
NM_003900.5(SQSTM1):c.752T>C (p.Leu251Pro)
|
|
|
NM_003900.5(SQSTM1):c.754+11C>G
|
|
|
NM_003900.5(SQSTM1):c.754+11C>T
|
|
|
NM_003900.5(SQSTM1):c.754+13C>A
|
rs1232662115
|
|
NM_003900.5(SQSTM1):c.754+18C>T
|
|
|
NM_003900.5(SQSTM1):c.754+5G>A
|
|
|
NM_003900.5(SQSTM1):c.755-12C>G
|
|
|
NM_003900.5(SQSTM1):c.755-12C>T
|
rs1043468451
|
|
NM_003900.5(SQSTM1):c.755-13C>T
|
|
|
NM_003900.5(SQSTM1):c.755-20C>G
|
|
|
NM_003900.5(SQSTM1):c.755-4C>T
|
|
|
NM_003900.5(SQSTM1):c.755-6C>T
|
|
|
NM_003900.5(SQSTM1):c.755-8G>T
|
rs369581639
|
|
NM_003900.5(SQSTM1):c.758T>C (p.Ile253Thr)
|
rs753016349
|
|
NM_003900.5(SQSTM1):c.763G>A (p.Val255Ile)
|
rs182522590
|
|
NM_003900.5(SQSTM1):c.763dup (p.Val255fs)
|
|
|
NM_003900.5(SQSTM1):c.766_767delinsCT (p.Asp256Leu)
|
|
|
NM_003900.5(SQSTM1):c.767A>C (p.Asp256Ala)
|
rs988411948
|
|
NM_003900.5(SQSTM1):c.767A>G (p.Asp256Gly)
|
rs988411948
|
|
NM_003900.5(SQSTM1):c.771C>G (p.Ile257Met)
|
rs372827450
|
|
NM_003900.5(SQSTM1):c.771C>T (p.Ile257=)
|
rs372827450
|
|
NM_003900.5(SQSTM1):c.785G>A (p.Gly262Glu)
|
|
|
NM_003900.5(SQSTM1):c.786A>G (p.Gly262=)
|
rs1214357767
|
|
NM_003900.5(SQSTM1):c.78C>T (p.Cys26=)
|
rs2113479661
|
|
NM_003900.5(SQSTM1):c.792AAG[1] (p.Arg265del)
|
|
|
NM_003900.5(SQSTM1):c.805A>T (p.Thr269Ser)
|
rs745853858
|
|
NM_003900.5(SQSTM1):c.810del (p.Val271fs)
|
rs1758316662
|
|
NM_003900.5(SQSTM1):c.815C>G (p.Ser272Cys)
|
|
|
NM_003900.5(SQSTM1):c.815_818del (p.Val271_Ser272insTer)
|
|
|
NM_003900.5(SQSTM1):c.820G>T (p.Glu274Ter)
|
|
|
NM_003900.5(SQSTM1):c.823A>T (p.Ser275Cys)
|
|
|
NM_003900.5(SQSTM1):c.823_824del (p.Ser275fs)
|
rs1273214757
|
|
NM_003900.5(SQSTM1):c.827C>T (p.Ser276Phe)
|
rs202119215
|
|
NM_003900.5(SQSTM1):c.829A>G (p.Ser277Gly)
|
rs2113510695
|
|
NM_003900.5(SQSTM1):c.833C>T (p.Thr278Ile)
|
|
|
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del)
|
rs752009611
|
|
NM_003900.5(SQSTM1):c.837G>A (p.Glu279=)
|
rs2113510724
|
|
NM_003900.5(SQSTM1):c.848G>C (p.Ser283Thr)
|
rs760785371
|
|
NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg)
|
rs759823891
|
|
NM_003900.5(SQSTM1):c.84C>T (p.Ser28=)
|
|
|
NM_003900.5(SQSTM1):c.850T>A (p.Ser284Thr)
|
rs764205744
|
|
NM_003900.5(SQSTM1):c.857C>T (p.Pro286Leu)
|
rs754060027
|
|
NM_003900.5(SQSTM1):c.86C>G (p.Pro29Arg)
|
rs1012113887
|
|
NM_003900.5(SQSTM1):c.885G>A (p.Lys295=)
|
rs2113510916
|
|
NM_003900.5(SQSTM1):c.888G>T (p.Pro296=)
|
rs148984239
|
|
NM_003900.5(SQSTM1):c.889G>C (p.Gly297Arg)
|
|
|
NM_003900.5(SQSTM1):c.88G>A (p.Glu30Lys)
|
rs764111892
|
|
NM_003900.5(SQSTM1):c.892G>A (p.Gly298Arg)
|
rs2113510972
|
|
NM_003900.5(SQSTM1):c.8C>T (p.Ser3Leu)
|
|
|
NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)
|
|
|
NM_003900.5(SQSTM1):c.918T>C (p.Ser306=)
|
|
|
NM_003900.5(SQSTM1):c.919C>T (p.Leu307=)
|
|
|
NM_003900.5(SQSTM1):c.921G>A (p.Leu307=)
|
|
|
NM_003900.5(SQSTM1):c.923C>A (p.Ala308Glu)
|
|
|
NM_003900.5(SQSTM1):c.934A>C (p.Arg312=)
|
|
|
NM_003900.5(SQSTM1):c.936_937delinsAG (p.Lys313Glu)
|
|
|
NM_003900.5(SQSTM1):c.942C>G (p.Ile314Met)
|
rs200695664
|
|
NM_003900.5(SQSTM1):c.944C>T (p.Ala315Val)
|
|
|
NM_003900.5(SQSTM1):c.956del (p.Glu319fs)
|
|
|
NM_003900.5(SQSTM1):c.960G>A (p.Gly320=)
|
|
|
NM_003900.5(SQSTM1):c.964C>A (p.Pro322Thr)
|
|
|
NM_003900.5(SQSTM1):c.969+14C>T
|
|
|
NM_003900.5(SQSTM1):c.969G>A (p.Glu323=)
|
rs2113511316
|
|
NM_003900.5(SQSTM1):c.96G>A (p.Glu32=)
|
|
|
NM_003900.5(SQSTM1):c.970-13A>G
|
rs1013927869
|
|
NM_003900.5(SQSTM1):c.970-2A>G
|
rs2113512370
|
|
NM_003900.5(SQSTM1):c.970-4C>T
|
|
|
NM_003900.5(SQSTM1):c.970-8T>C
|
|
|
NM_003900.5(SQSTM1):c.970G>A (p.Glu324Lys)
|
rs1436000961
|
|
NM_003900.5(SQSTM1):c.970del
|
rs758377403
|
|
NM_003900.5(SQSTM1):c.973C>T (p.Gln325Ter)
|
|
|
NM_003900.5(SQSTM1):c.979G>A (p.Glu327Lys)
|
rs1358261412
|
|
NM_003900.5(SQSTM1):c.979dup (p.Glu327fs)
|
|
|
NM_003900.5(SQSTM1):c.97G>A (p.Ala33Thr)
|
|
|
NM_003900.5(SQSTM1):c.983C>T (p.Ser328Leu)
|
|
|
NM_003900.5(SQSTM1):c.985G>A (p.Asp329Asn)
|
|
|
NM_003900.5(SQSTM1):c.988A>G (p.Asn330Asp)
|
|
|
NM_003900.5(SQSTM1):c.989A>C (p.Asn330Thr)
|
|
|
NM_003900.5(SQSTM1):c.98C>G (p.Ala33Gly)
|
|
|
NM_003900.5(SQSTM1):c.994T>A (p.Ser332Thr)
|
|
|
NM_003900.5(SQSTM1):c.995C>T (p.Ser332Leu)
|
rs1185406298
|
|
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del)
|
rs778047147
|
|
NM_003900.5(SQSTM1):c.9G>A (p.Ser3=)
|
|
|
NM_031471.6(FERMT3):c.100C>T (p.Leu34=)
|
|
|
NM_031471.6(FERMT3):c.1011G>A (p.Ser337=)
|
|
|
NM_031471.6(FERMT3):c.1029+11G>C
|
|
|
NM_031471.6(FERMT3):c.1029+20A>G
|
|
|
NM_031471.6(FERMT3):c.1029+2T>C
|
rs1591038507
|
|
NM_031471.6(FERMT3):c.1029+6G>T
|
|
|
NM_031471.6(FERMT3):c.1030-12G>A
|
|
|
NM_031471.6(FERMT3):c.1030-16T>G
|
|
|
NM_031471.6(FERMT3):c.1030-20T>C
|
rs2134881481
|
|
NM_031471.6(FERMT3):c.1030G>T (p.Asp344Tyr)
|
rs1946632820
|
|
NM_031471.6(FERMT3):c.1042A>G (p.Thr348Ala)
|
rs2134881583
|
|
NM_031471.6(FERMT3):c.104_105delinsTA (p.Arg35Leu)
|
rs1946337090
|
|
NM_031471.6(FERMT3):c.1050A>G (p.Pro350=)
|
rs2134881613
|
|
NM_031471.6(FERMT3):c.1070G>A (p.Arg357Gln)
|
|
|
NM_031471.6(FERMT3):c.1077T>G (p.Phe359Leu)
|
|
|
NM_031471.6(FERMT3):c.1079+10G>T
|
|
|
NM_031471.6(FERMT3):c.107T>C (p.Val36Ala)
|
|
|
NM_031471.6(FERMT3):c.1080-12C>T
|
|
|
NM_031471.6(FERMT3):c.1080-15C>T
|
rs2134882329
|
|
NM_031471.6(FERMT3):c.1080-16C>G
|
|
|
NM_031471.6(FERMT3):c.1080-18C>A
|
|
|
NM_031471.6(FERMT3):c.1095C>T (p.Thr365=)
|
rs2134882623
|
|
NM_031471.6(FERMT3):c.1104C>G (p.Gly368=)
|
rs2134882687
|
|
NM_031471.6(FERMT3):c.111T>C (p.Thr37=)
|
|
|
NM_031471.6(FERMT3):c.1128C>T (p.Phe376=)
|
|
|
NM_031471.6(FERMT3):c.1139C>T (p.Thr380Ile)
|
rs1946639980
|
|
NM_031471.6(FERMT3):c.113G>C (p.Gly38Ala)
|
rs2134828211
|
|
NM_031471.6(FERMT3):c.1164C>T (p.Asp388=)
|
|
|
NM_031471.6(FERMT3):c.1170C>G (p.Ala390=)
|
|
|
NM_031471.6(FERMT3):c.1187A>G (p.Gln396Arg)
|
|
|
NM_031471.6(FERMT3):c.1192C>T (p.Leu398Phe)
|
rs780759663
|
|
NM_031471.6(FERMT3):c.1202A>C (p.Lys401Thr)
|
|
|
NM_031471.6(FERMT3):c.1205-3C>T
|
|
|
NM_031471.6(FERMT3):c.1205-7C>T
|
rs2134884288
|
|
NM_031471.6(FERMT3):c.1222G>A (p.Asp408Asn)
|
|
|
NM_031471.6(FERMT3):c.1230C>T (p.Asn410=)
|
|
|
NM_031471.6(FERMT3):c.124A>G (p.Ile42Val)
|
|
|
NM_031471.6(FERMT3):c.1311+10G>A
|
|
|
NM_031471.6(FERMT3):c.1311+11dup
|
|
|
NM_031471.6(FERMT3):c.1311+13_1311+29del
|
|
|
NM_031471.6(FERMT3):c.1311+6T>G
|
|
|
NM_031471.6(FERMT3):c.1311+9G>A
|
rs111309375
|
|
NM_031471.6(FERMT3):c.1312-11del
|
|
|
NM_031471.6(FERMT3):c.1312-13C>T
|
|
|
NM_031471.6(FERMT3):c.1312-18C>T
|
|
|
NM_031471.6(FERMT3):c.1314G>A (p.Glu438=)
|
rs2134885222
|
|
NM_031471.6(FERMT3):c.1352C>G (p.Ala451Gly)
|
|
|
NM_031471.6(FERMT3):c.1360G>A (p.Gly454Ser)
|
|
|
NM_031471.6(FERMT3):c.1362C>G (p.Gly454=)
|
rs2134885437
|
|
NM_031471.6(FERMT3):c.1374C>G (p.Ala458=)
|
rs762230079
|
|
NM_031471.6(FERMT3):c.1389C>T (p.Thr463=)
|
rs753535248
|
|
NM_031471.6(FERMT3):c.138C>G (p.Leu46=)
|
rs765072715
|
|
NM_031471.6(FERMT3):c.1392C>T (p.Ser464=)
|
|
|
NM_031471.6(FERMT3):c.1408C>T (p.Leu470=)
|
rs751370857
|
|
NM_031471.6(FERMT3):c.140T>A (p.Leu47Gln)
|
rs1946338724
|
|
NM_031471.6(FERMT3):c.1443G>C (p.Gly481=)
|
|
|
NM_031471.6(FERMT3):c.1448C>G (p.Pro483Arg)
|
|
|
NM_031471.6(FERMT3):c.144G>A (p.Lys48=)
|
rs369062120
|
|
NM_031471.6(FERMT3):c.1454A>G (p.Asn485Ser)
|
|
|
NM_031471.6(FERMT3):c.1469_1504del (p.Pro490_Gly501del)
|
|
|
NM_031471.6(FERMT3):c.1471G>C (p.Asp491His)
|
rs1203250020
|
|
NM_031471.6(FERMT3):c.1483G>A (p.Glu495Lys)
|
|
|
NM_031471.6(FERMT3):c.1497C>G (p.Pro499=)
|
rs1400489114
|
|
NM_031471.6(FERMT3):c.1504C>T (p.Leu502Phe)
|
rs773617643
|
|
NM_031471.6(FERMT3):c.1512C>T (p.Ala504=)
|
|
|
NM_031471.6(FERMT3):c.1516C>T (p.Arg506Cys)
|
rs184091587
|
|
NM_031471.6(FERMT3):c.1520T>G (p.Phe507Cys)
|
rs1267328953
|
|
NM_031471.6(FERMT3):c.1545+10G>A
|
rs1591040541
|
|
NM_031471.6(FERMT3):c.1545+14T>C
|
|
|
NM_031471.6(FERMT3):c.1545+17G>C
|
|
|
NM_031471.6(FERMT3):c.1548C>A (p.Leu516=)
|
rs777931977
|
|
NM_031471.6(FERMT3):c.155A>G (p.Gln52Arg)
|
|
|
NM_031471.6(FERMT3):c.1566A>T (p.Glu522Asp)
|
|
|
NM_031471.6(FERMT3):c.1578T>C (p.Asn526=)
|
rs1288349776
|
|
NM_031471.6(FERMT3):c.1593G>A (p.Ser531=)
|
|
|
NM_031471.6(FERMT3):c.1593G>T (p.Ser531=)
|
|
|
NM_031471.6(FERMT3):c.1596G>A (p.Leu532=)
|
|
|
NM_031471.6(FERMT3):c.160+17C>G
|
rs1009780479
|
|
NM_031471.6(FERMT3):c.161-16C>T
|
|
|
NM_031471.6(FERMT3):c.161-20T>C
|
|
|
NM_031471.6(FERMT3):c.1612C>T (p.Arg538Cys)
|
|
|
NM_031471.6(FERMT3):c.1613G>A (p.Arg538His)
|
rs1205153436
|
|
NM_031471.6(FERMT3):c.1620C>T (p.Ile540=)
|
|
|
NM_031471.6(FERMT3):c.1634C>T (p.Ser545Phe)
|
|
|
NM_031471.6(FERMT3):c.163C>A (p.Arg55Ser)
|
rs769352433
|
|
NM_031471.6(FERMT3):c.164G>A (p.Arg55His)
|
|
|
NM_031471.6(FERMT3):c.1650C>T (p.Gly550=)
|
rs957232636
|
|
NM_031471.6(FERMT3):c.1658_1659del (p.Tyr553fs)
|
rs1591041141
|
|
NM_031471.6(FERMT3):c.1670+10C>T
|
rs2134888721
|
|
NM_031471.6(FERMT3):c.1670+19C>A
|
|
|
NM_031471.6(FERMT3):c.1671-15C>G
|
rs78324705
|
|
NM_031471.6(FERMT3):c.1671-18T>A
|
|
|
NM_031471.6(FERMT3):c.1671-19C>G
|
|
|
NM_031471.6(FERMT3):c.1671-4_1671del
|
|
|
NM_031471.6(FERMT3):c.1686G>A (p.Arg562=)
|
|
|
NM_031471.6(FERMT3):c.1688A>G (p.Lys563Arg)
|
rs754239815
|
|
NM_031471.6(FERMT3):c.1701G>A (p.Leu567=)
|
|
|
NM_031471.6(FERMT3):c.1712A>T (p.Asn571Ile)
|
rs1946752193
|
|
NM_031471.6(FERMT3):c.1715A>G (p.Asn572Ser)
|
rs867920578
|
|
NM_031471.6(FERMT3):c.1718G>A (p.Arg573Gln)
|
|
|
NM_031471.6(FERMT3):c.1725C>A (p.Ile575=)
|
|
|
NM_031471.6(FERMT3):c.1732G>A (p.Asp578Asn)
|
|
|
NM_031471.6(FERMT3):c.1740C>T (p.Ala580=)
|
|
|
NM_031471.6(FERMT3):c.1743G>T (p.Val581=)
|
rs1565299087
|
|
NM_031471.6(FERMT3):c.1747G>A (p.Asp583Asn)
|
|
|
NM_031471.6(FERMT3):c.1766G>T (p.Arg589Leu)
|
|
|
NM_031471.6(FERMT3):c.1790del (p.Asn597fs)
|
|
|
NM_031471.6(FERMT3):c.1807C>T (p.Arg603Trp)
|
|
|
NM_031471.6(FERMT3):c.1812+12C>T
|
rs1282201698
|
|
NM_031471.6(FERMT3):c.1812+13C>A
|
|
|
NM_031471.6(FERMT3):c.1812+18G>A
|
rs756907795
|
|
NM_031471.6(FERMT3):c.1812+8C>T
|
|
|
NM_031471.6(FERMT3):c.1813-15_1813-14del
|
rs528684268
|
|
NM_031471.6(FERMT3):c.1813-17C>T
|
rs1419820066
|
|
NM_031471.6(FERMT3):c.1813G>A (p.Val605Met)
|
|
|
NM_031471.6(FERMT3):c.1839C>T (p.Ile613=)
|
|
|
NM_031471.6(FERMT3):c.1857C>T (p.Cys619=)
|
|
|
NM_031471.6(FERMT3):c.1866C>T (p.Ala622=)
|
rs772395750
|
|
NM_031471.6(FERMT3):c.1867A>G (p.Ser623Gly)
|
rs2134906064
|
|
NM_031471.6(FERMT3):c.1887G>C (p.Glu629Asp)
|
|
|
NM_031471.6(FERMT3):c.1889A>G (p.Tyr630Cys)
|
|
|
NM_031471.6(FERMT3):c.1894G>A (p.Gly632Arg)
|
|
|
NM_031471.6(FERMT3):c.1895G>T (p.Gly632Val)
|
rs1565299599
|
|
NM_031471.6(FERMT3):c.18A>G (p.Thr6=)
|
|
|
NM_031471.6(FERMT3):c.1904T>A (p.Ile635Asn)
|
rs2134906387
|
|
NM_031471.6(FERMT3):c.1907T>A (p.Phe636Tyr)
|
|
|
NM_031471.6(FERMT3):c.1908C>T (p.Phe636=)
|
|
|
NM_031471.6(FERMT3):c.1911G>A (p.Leu637=)
|
|
|
NM_031471.6(FERMT3):c.1913C>A (p.Ser638Ter)
|
|
|
NM_031471.6(FERMT3):c.1914G>A (p.Ser638=)
|
|
|
NM_031471.6(FERMT3):c.1914G>C (p.Ser638=)
|
rs192928228
|
|
NM_031471.6(FERMT3):c.1917_1918delinsAG (p.Arg640Gly)
|
|
|
NM_031471.6(FERMT3):c.1918C>A (p.Arg640=)
|
|
|
NM_031471.6(FERMT3):c.1926G>C (p.Arg642=)
|
|
|
NM_031471.6(FERMT3):c.1931G>A (p.Arg644His)
|
rs368565732
|
|
NM_031471.6(FERMT3):c.1931G>C (p.Arg644Pro)
|
rs368565732
|
|
NM_031471.6(FERMT3):c.1954C>T (p.Leu652Phe)
|
|
|
NM_031471.6(FERMT3):c.1977C>T (p.Gly659=)
|
|
|
NM_031471.6(FERMT3):c.1979A>G (p.His660Arg)
|
|
|
NM_031471.6(FERMT3):c.213G>C (p.Gln71His)
|
|
|
NM_031471.6(FERMT3):c.219G>A (p.Leu73=)
|
rs2134841789
|
|
NM_031471.6(FERMT3):c.228C>T (p.Thr76=)
|
|
|
NM_031471.6(FERMT3):c.24C>T (p.Ser8=)
|
rs1258498079
|
|
NM_031471.6(FERMT3):c.258G>A (p.Leu86=)
|
|
|
NM_031471.6(FERMT3):c.25G>A (p.Gly9Arg)
|
rs200509898
|
|
NM_031471.6(FERMT3):c.273C>T (p.Leu91=)
|
|
|
NM_031471.6(FERMT3):c.275T>G (p.Phe92Cys)
|
rs1946416404
|
|
NM_031471.6(FERMT3):c.27G>T (p.Gly9=)
|
rs147987989
|
|
NM_031471.6(FERMT3):c.294G>A (p.Arg98=)
|
|
|
NM_031471.6(FERMT3):c.2T>G (p.Met1Arg)
|
|
|
NM_031471.6(FERMT3):c.313C>T (p.Pro105Ser)
|
|
|
NM_031471.6(FERMT3):c.323G>A (p.Arg108His)
|
|
|
NM_031471.6(FERMT3):c.351C>G (p.Ser117=)
|
|
|
NM_031471.6(FERMT3):c.357C>T (p.Pro119=)
|
|
|
NM_031471.6(FERMT3):c.36C>T (p.Ile12=)
|
|
|
NM_031471.6(FERMT3):c.394+11C>T
|
|
|
NM_031471.6(FERMT3):c.394+19T>G
|
|
|
NM_031471.6(FERMT3):c.419C>T (p.Ser140Phe)
|
rs1946424644
|
|
NM_031471.6(FERMT3):c.41C>G (p.Ser14Trp)
|
rs778799174
|
|
NM_031471.6(FERMT3):c.420C>T (p.Ser140=)
|
|
|
NM_031471.6(FERMT3):c.429G>C (p.Arg143=)
|
rs2134843708
|
|
NM_031471.6(FERMT3):c.431C>G (p.Ala144Gly)
|
|
|
NM_031471.6(FERMT3):c.435T>C (p.Pro145=)
|
rs2134843748
|
|
NM_031471.6(FERMT3):c.439AAG[1] (p.Lys148del)
|
rs776324976
|
|
NM_031471.6(FERMT3):c.444G>C (p.Lys148Asn)
|
|
|
NM_031471.6(FERMT3):c.445G>A (p.Glu149Lys)
|
rs1189533527
|
|
NM_031471.6(FERMT3):c.447GAA[3] (p.Lys153del)
|
rs759155629
|
|
NM_031471.6(FERMT3):c.45A>G (p.Ser15=)
|
|
|
NM_031471.6(FERMT3):c.46T>C (p.Trp16Arg)
|
|
|
NM_031471.6(FERMT3):c.479A>T (p.Glu160Val)
|
rs2134843975
|
|
NM_031471.6(FERMT3):c.500T>C (p.Val167Ala)
|
rs2134844071
|
|
NM_031471.6(FERMT3):c.507G>C (p.Leu169Phe)
|
rs1946427260
|
|
NM_031471.6(FERMT3):c.511G>A (p.Gly171Arg)
|
|
|
NM_031471.6(FERMT3):c.514+13G>T
|
|
|
NM_031471.6(FERMT3):c.514+15G>A
|
|
|
NM_031471.6(FERMT3):c.514+17G>A
|
|
|
NM_031471.6(FERMT3):c.514+20G>A
|
|
|
NM_031471.6(FERMT3):c.515-10T>G
|
|
|
NM_031471.6(FERMT3):c.515-16C>G
|
|
|
NM_031471.6(FERMT3):c.515-7A>T
|
|
|
NM_031471.6(FERMT3):c.521C>T (p.Ala174Val)
|
rs2134845189
|
|
NM_031471.6(FERMT3):c.531G>C (p.Leu177=)
|
rs1397774460
|
|
NM_031471.6(FERMT3):c.534C>T (p.Phe178=)
|
|
|
NM_031471.6(FERMT3):c.536G>T (p.Arg179Leu)
|
rs778967874
|
|
NM_031471.6(FERMT3):c.540G>A (p.Gly180=)
|
|
|
NM_031471.6(FERMT3):c.540del (p.Met181fs)
|
rs2134845306
|
|
NM_031471.6(FERMT3):c.544C>T (p.Pro182Ser)
|
|
|
NM_031471.6(FERMT3):c.552C>T (p.His184=)
|
rs2134845391
|
|
NM_031471.6(FERMT3):c.560A>G (p.Asp187Gly)
|
rs1946432873
|
|
NM_031471.6(FERMT3):c.564C>T (p.Ser188=)
|
|
|
NM_031471.6(FERMT3):c.56G>T (p.Arg19Leu)
|
rs150500299
|
|
NM_031471.6(FERMT3):c.609G>A (p.Pro203=)
|
|
|
NM_031471.6(FERMT3):c.613C>A (p.Pro205Thr)
|
rs2134845949
|
|
NM_031471.6(FERMT3):c.619C>G (p.Pro207Ala)
|
|
|
NM_031471.6(FERMT3):c.634C>T (p.Arg212Cys)
|
rs369072342
|
|
NM_031471.6(FERMT3):c.643C>T (p.Arg215Trp)
|
|
|
NM_031471.6(FERMT3):c.644G>T (p.Arg215Leu)
|
rs542357552
|
|
NM_031471.6(FERMT3):c.657G>A (p.Leu219=)
|
rs2134846219
|
|
NM_031471.6(FERMT3):c.664_665del (p.Lys222fs)
|
rs1591028090
|
|
NM_031471.6(FERMT3):c.683+19C>G
|
rs759456987
|
|
NM_031471.6(FERMT3):c.683+5A>C
|
rs1946435926
|
|
NM_031471.6(FERMT3):c.684-10C>G
|
rs201247420
|
|
NM_031471.6(FERMT3):c.684-10C>T
|
rs201247420
|
|
NM_031471.6(FERMT3):c.684-1G>A
|
|
|
NM_031471.6(FERMT3):c.684-6G>T
|
|
|
NM_031471.6(FERMT3):c.684-9G>A
|
rs765206442
|
|
NM_031471.6(FERMT3):c.699G>T (p.Ser233=)
|
rs750515226
|
|
NM_031471.6(FERMT3):c.700C>A (p.Arg234=)
|
rs1260750258
|
|
NM_031471.6(FERMT3):c.700C>T (p.Arg234Trp)
|
|
|
NM_031471.6(FERMT3):c.702G>A (p.Arg234=)
|
rs780592693
|
|
NM_031471.6(FERMT3):c.706C>T (p.Leu236Phe)
|
rs1946443415
|
|
NM_031471.6(FERMT3):c.719G>A (p.Gly240Asp)
|
rs2134847767
|
|
NM_031471.6(FERMT3):c.724A>G (p.Lys242Glu)
|
rs1408986056
|
|
NM_031471.6(FERMT3):c.728C>G (p.Ala243Gly)
|
rs1402606308
|
|
NM_031471.6(FERMT3):c.730G>A (p.Gly244Arg)
|
|
|
NM_031471.6(FERMT3):c.737C>T (p.Ala246Val)
|
|
|
NM_031471.6(FERMT3):c.748C>T (p.Arg250Cys)
|
|
|
NM_031471.6(FERMT3):c.749G>A (p.Arg250His)
|
|
|
NM_031471.6(FERMT3):c.749G>T (p.Arg250Leu)
|
|
|
NM_031471.6(FERMT3):c.74A>G (p.Glu25Gly)
|
rs2134828037
|
|
NM_031471.6(FERMT3):c.756G>A (p.Lys252=)
|
rs2134847985
|
|
NM_031471.6(FERMT3):c.765C>A (p.Ser255Arg)
|
rs1359134455
|
|
NM_031471.6(FERMT3):c.771C>T (p.Phe257=)
|
rs368973559
|
|
NM_031471.6(FERMT3):c.786+16G>A
|
|
|
NM_031471.6(FERMT3):c.786+18G>A
|
|
|
NM_031471.6(FERMT3):c.786+1G>T
|
|
|
NM_031471.6(FERMT3):c.787-10C>T
|
|
|
NM_031471.6(FERMT3):c.787-8C>A
|
rs202116077
|
|
NM_031471.6(FERMT3):c.787-8C>G
|
rs202116077
|
|
NM_031471.6(FERMT3):c.787-8C>T
|
rs202116077
|
|
NM_031471.6(FERMT3):c.787-8del
|
rs748191376
|
|
NM_031471.6(FERMT3):c.787-8dup
|
rs748191376
|
|
NM_031471.6(FERMT3):c.787-9C>T
|
rs1399195192
|
|
NM_031471.6(FERMT3):c.790G>C (p.Asp264His)
|
rs1303226802
|
|
NM_031471.6(FERMT3):c.814dup (p.Tyr272fs)
|
rs1591037806
|
|
NM_031471.6(FERMT3):c.834C>T (p.Asp278=)
|
|
|
NM_031471.6(FERMT3):c.843G>A (p.Leu281=)
|
|
|
NM_031471.6(FERMT3):c.847_853del (p.Glu283fs)
|
|
|
NM_031471.6(FERMT3):c.849G>T (p.Glu283Asp)
|
rs568602034
|
|
NM_031471.6(FERMT3):c.861C>T (p.Thr287=)
|
|
|
NM_031471.6(FERMT3):c.862G>A (p.Glu288Lys)
|
rs1294902127
|
|
NM_031471.6(FERMT3):c.87C>T (p.Ala29=)
|
|
|
NM_031471.6(FERMT3):c.886G>A (p.Ala296Thr)
|
rs1030764940
|
|
NM_031471.6(FERMT3):c.891G>A (p.Leu297=)
|
rs2134879914
|
|
NM_031471.6(FERMT3):c.894+20G>A
|
|
|
NM_031471.6(FERMT3):c.894+9C>A
|
|
|
NM_031471.6(FERMT3):c.894+9C>T
|
rs377003245
|
|
NM_031471.6(FERMT3):c.895-19T>C
|
rs1946625797
|
|
NM_031471.6(FERMT3):c.895-5C>T
|
|
|
NM_031471.6(FERMT3):c.90G>A (p.Glu30=)
|
|
|
NM_031471.6(FERMT3):c.912G>T (p.Leu304=)
|
rs1946626509
|
|
NM_031471.6(FERMT3):c.930G>A (p.Val310=)
|
|
|
NM_031471.6(FERMT3):c.930G>T (p.Val310=)
|
rs199508330
|
|
NM_031471.6(FERMT3):c.941C>T (p.Ala314Val)
|
rs566565776
|
|
NM_031471.6(FERMT3):c.964G>A (p.Asp322Asn)
|
|
|
NM_031471.6(FERMT3):c.967C>G (p.Leu323Val)
|
rs1177180183
|
|
NM_031471.6(FERMT3):c.984C>A (p.Ser328Arg)
|
|
|
NM_031471.6(FERMT3):c.987C>T (p.Asn329=)
|
|
|
NM_031471.6(FERMT3):c.992A>C (p.Glu331Ala)
|
rs1591038431
|
|
NM_031471.6(FERMT3):c.9G>A (p.Gly3=)
|
|
|
NM_207122.1(EXT2):c.861_1173+5287del
|
|
|
NM_207122.2(EXT2):c.1002_1004dup (p.Leu335_Gln336insLeu)
|
|
|
NM_207122.2(EXT2):c.1003_1004insA (p.Leu335fs)
|
rs2135020617
|
|
NM_207122.2(EXT2):c.1006C>T (p.Gln336Ter)
|
rs1954414269
|
|
NM_207122.2(EXT2):c.1008A>G (p.Gln336=)
|
|
|
NM_207122.2(EXT2):c.1013del (p.Gly338fs)
|
rs2135020654
|
|
NM_207122.2(EXT2):c.1016G>A (p.Cys339Tyr)
|
rs751598619
|
|
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
|
|
|
NM_207122.2(EXT2):c.1022C>G (p.Pro341Arg)
|
rs141035971
|
|
NM_207122.2(EXT2):c.1024del (p.Val342fs)
|
rs1954415156
|
|
NM_207122.2(EXT2):c.1026T>C (p.Val342=)
|
|
|
NM_207122.2(EXT2):c.1032T>G (p.Ile344Met)
|
rs1954415349
|
|
NM_207122.2(EXT2):c.1032del (p.Ile344fs)
|
rs1590570953
|
|
NM_207122.2(EXT2):c.1040C>G (p.Ser347Cys)
|
|
|
NM_207122.2(EXT2):c.1042T>G (p.Tyr348Asp)
|
|
|
NM_207122.2(EXT2):c.1044T>A (p.Tyr348Ter)
|
|
|
NM_207122.2(EXT2):c.1044T>C (p.Tyr348=)
|
rs2135020895
|
|
NM_207122.2(EXT2):c.1050G>T (p.Leu350Phe)
|
rs747302075
|
|
NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu)
|
rs1954415964
|
|
NM_207122.2(EXT2):c.1056C>T (p.Phe352=)
|
|
|
NM_207122.2(EXT2):c.1066C>T (p.Leu356Phe)
|
|
|
NM_207122.2(EXT2):c.1072T>G (p.Trp358Gly)
|
rs2135020999
|
|
NM_207122.2(EXT2):c.1074G>A (p.Trp358Ter)
|
rs1450980907
|
|
NM_207122.2(EXT2):c.1079+13T>C
|
|
|
NM_207122.2(EXT2):c.1079+17A>G
|
|
|
NM_207122.2(EXT2):c.1079+1G>A
|
rs1369420640
|
|
NM_207122.2(EXT2):c.1079+1G>T
|
rs1369420640
|
|
NM_207122.2(EXT2):c.1080-14G>A
|
|
|
NM_207122.2(EXT2):c.1080-1G>A
|
rs2135029007
|
|
NM_207122.2(EXT2):c.1080-1G>T
|
rs2135029007
|
|
NM_207122.2(EXT2):c.1080-2A>G
|
rs558968332
|
|
NM_207122.2(EXT2):c.1080-2del
|
rs2135029005
|
|
NM_207122.2(EXT2):c.1083A>G (p.Ala361=)
|
|
|
NM_207122.2(EXT2):c.1085C>T (p.Ser362Phe)
|
|
|
NM_207122.2(EXT2):c.1102G>T (p.Glu368Ter)
|
|
|
NM_207122.2(EXT2):c.1104_1108del (p.Glu368fs)
|
|
|
NM_207122.2(EXT2):c.1117G>A (p.Val373Met)
|
rs750547674
|
|
NM_207122.2(EXT2):c.1124_1125del (p.Ser375fs)
|
rs1954470017
|
|
NM_207122.2(EXT2):c.1128T>C (p.Ile376=)
|
|
|
NM_207122.2(EXT2):c.1132C>T (p.Gln378Ter)
|
rs1555006433
|
|
NM_207122.2(EXT2):c.1144C>T (p.Gln382Ter)
|
rs1954470670
|
|
NM_207122.2(EXT2):c.1149A>G (p.Arg383=)
|
|
|
NM_207122.2(EXT2):c.1150C>T (p.Gln384Ter)
|
rs753083913
|
|
NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg)
|
rs1590575253
|
|
NM_207122.2(EXT2):c.1154T>C (p.Ile385Thr)
|
|
|
NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu)
|
rs1203844985
|
|
NM_207122.2(EXT2):c.1167G>A (p.Gln389=)
|
rs2135029434
|
|
NM_207122.2(EXT2):c.1169_1170del (p.Arg390fs)
|
rs1954471038
|
|
NM_207122.2(EXT2):c.1171C>T (p.Gln391Ter)
|
rs570580540
|
|
NM_207122.2(EXT2):c.1172_1173dup (p.Ala392fs)
|
|
|
NM_207122.2(EXT2):c.1173+17T>A
|
|
|
NM_207122.2(EXT2):c.1173+2T>A
|
rs1565205890
|
|
NM_207122.2(EXT2):c.1173+8G>A
|
|
|
NM_207122.2(EXT2):c.1173+9C>T
|
|
|
NM_207122.2(EXT2):c.1174-14T>A
|
|
|
NM_207122.2(EXT2):c.1174-19A>G
|
|
|
NM_207122.2(EXT2):c.1174-2A>G
|
|
|
NM_207122.2(EXT2):c.1175C>A (p.Ala392Asp)
|
|
|
NM_207122.2(EXT2):c.117C>T (p.Ala39=)
|
rs2134965644
|
|
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter)
|
rs1191238988
|
|
NM_207122.2(EXT2):c.1186_1192del (p.Trp396fs)
|
|
|
NM_207122.2(EXT2):c.1187G>A (p.Trp396Ter)
|
rs750542485
|
|
NM_207122.2(EXT2):c.1187G>C (p.Trp396Ser)
|
|
|
NM_207122.2(EXT2):c.1189dup (p.Glu397fs)
|
rs1590618771
|
|
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr)
|
rs2135127641
|
|
NM_207122.2(EXT2):c.1197C>G (p.Tyr399Ter)
|
|
|
NM_207122.2(EXT2):c.1201del (p.Gln401fs)
|
rs2135127698
|
|
NM_207122.2(EXT2):c.1205C>A (p.Ser402Ter)
|
rs1955075568
|
|
NM_207122.2(EXT2):c.1211A>T (p.Lys404Ile)
|
|
|
NM_207122.2(EXT2):c.1221C>G (p.Ala407=)
|
|
|
NM_207122.2(EXT2):c.1221C>T (p.Ala407=)
|
rs1315721028
|
|
NM_207122.2(EXT2):c.1223T>A (p.Leu408Gln)
|
|
|
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly)
|
rs1279920600
|
|
NM_207122.2(EXT2):c.1232_1234del (p.Leu411del)
|
|
|
NM_207122.2(EXT2):c.1233G>A (p.Leu411=)
|
|
|
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter)
|
rs1448103584
|
|
NM_207122.2(EXT2):c.1244A>G (p.Asn415Ser)
|
|
|
NM_207122.2(EXT2):c.1245del (p.Asn415fs)
|
|
|
NM_207122.2(EXT2):c.1248C>G (p.Asp416Glu)
|
|
|
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln)
|
rs753542290
|
|
NM_207122.2(EXT2):c.1257T>A (p.Tyr419Ter)
|
rs1955076595
|
|
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs)
|
rs1590618958
|
|
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
|
|
|
NM_207122.2(EXT2):c.1286G>A (p.Trp429Ter)
|
rs2135128105
|
|
NM_207122.2(EXT2):c.1287G>A (p.Trp429Ter)
|
rs1403873034
|
|
NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer)
|
rs1954079044
|
|
NM_207122.2(EXT2):c.12G>A (p.Ser4=)
|
|
|
NM_207122.2(EXT2):c.1305+14A>G
|
|
|
NM_207122.2(EXT2):c.1306-13T>C
|
rs749657208
|
|
NM_207122.2(EXT2):c.1306-14C>A
|
|
|
NM_207122.2(EXT2):c.1306-14C>T
|
|
|
NM_207122.2(EXT2):c.1306-8T>C
|
|
|
NM_207122.2(EXT2):c.1308G>A (p.Lys436=)
|
|
|
NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn)
|
|
|
NM_207122.2(EXT2):c.1312G>T (p.Gly438Cys)
|
rs775111831
|
|
NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu)
|
|
|
NM_207122.2(EXT2):c.1338C>T (p.Leu446=)
|
rs1955474586
|
|
NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu)
|
|
|
NM_207122.2(EXT2):c.1342C>T (p.Leu448=)
|
|
|
NM_207122.2(EXT2):c.1344G>A (p.Leu448=)
|
|
|
NM_207122.2(EXT2):c.1350A>G (p.Pro450=)
|
|
|
NM_207122.2(EXT2):c.1353A>G (p.Pro451=)
|
|
|
NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg)
|
|
|
NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn)
|
|
|
NM_207122.2(EXT2):c.1371C>T (p.Thr457=)
|
|
|
NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr)
|
|
|
NM_207122.2(EXT2):c.1392C>T (p.Asp464=)
|
|
|
NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln)
|
|
|
NM_207122.2(EXT2):c.1436T>A (p.Val479Glu)
|
|
|
NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser)
|
|
|
NM_207122.2(EXT2):c.143A>T (p.His48Leu)
|
rs1590547374
|
|
NM_207122.2(EXT2):c.1440C>T (p.Pro480=)
|
rs2135185399
|
|
NM_207122.2(EXT2):c.1449C>T (p.Ser483=)
|
|
|
NM_207122.2(EXT2):c.1458T>A (p.Leu486=)
|
rs1343630556
|
|
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
|
|
|
NM_207122.2(EXT2):c.1465T>C (p.Trp489Arg)
|
rs2135185580
|
|
NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser)
|
|
|
NM_207122.2(EXT2):c.147T>G (p.Ser49=)
|
|
|
NM_207122.2(EXT2):c.1484del (p.Asn495fs)
|
|
|
NM_207122.2(EXT2):c.1489_1495+12del
|
|
|
NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
|
|
|
NM_207122.2(EXT2):c.1495+12T>C
|
|
|
NM_207122.2(EXT2):c.1495+7dup
|
rs1376958816
|
|
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn)
|
rs1314735230
|
|
NM_207122.2(EXT2):c.1496-17C>A
|
rs1370105753
|
|
NM_207122.2(EXT2):c.1518G>A (p.Arg506=)
|
|
|
NM_207122.2(EXT2):c.1524A>G (p.Pro508=)
|
|
|
NM_207122.2(EXT2):c.1524A>T (p.Pro508=)
|
|
|
NM_207122.2(EXT2):c.1525T>C (p.Leu509=)
|
|
|
NM_207122.2(EXT2):c.1565G>A (p.Arg522His)
|
rs1271452312
|
|
NM_207122.2(EXT2):c.1574C>G (p.Pro525Arg)
|
|
|
NM_207122.2(EXT2):c.1575T>C (p.Pro525=)
|
rs372914384
|
|
NM_207122.2(EXT2):c.1577dup (p.Tyr526Ter)
|
rs2135204843
|
|
NM_207122.2(EXT2):c.1601T>A (p.Val534Asp)
|
rs1955590072
|
|
NM_207122.2(EXT2):c.1626T>A (p.Ile542=)
|
|
|
NM_207122.2(EXT2):c.1627dup (p.Met543fs)
|
rs1590647371
|
|
NM_207122.2(EXT2):c.1662+17_1662+18del
|
|
|
NM_207122.2(EXT2):c.1662+18A>G
|
|
|
NM_207122.2(EXT2):c.1662+1G>C
|
|
|
NM_207122.2(EXT2):c.1662+20T>C
|
|
|
NM_207122.2(EXT2):c.1662+4A>C
|
|
|
NM_207122.2(EXT2):c.1662G>C (p.Glu554Asp)
|
|
|
NM_207122.2(EXT2):c.1663-14G>A
|
|
|
NM_207122.2(EXT2):c.1663-1G>A
|
|
|
NM_207122.2(EXT2):c.1669C>A (p.Arg557=)
|
rs768532662
|
|
NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp)
|
rs768532662
|
|
NM_207122.2(EXT2):c.1683C>T (p.Asp561=)
|
rs1955909250
|
|
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
|
|
|
NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)
|
|
|
NM_207122.2(EXT2):c.1698C>A (p.Tyr566Ter)
|
|
|
NM_207122.2(EXT2):c.1700C>T (p.Pro567Leu)
|
|
|
NM_207122.2(EXT2):c.1701G>A (p.Pro567=)
|
|
|
NM_207122.2(EXT2):c.1708C>T (p.Leu570=)
|
|
|
NM_207122.2(EXT2):c.1719G>C (p.Trp573Cys)
|
|
|
NM_207122.2(EXT2):c.1724A>G (p.His575Arg)
|
|
|
NM_207122.2(EXT2):c.1731dup (p.Asn578fs)
|
|
|
NM_207122.2(EXT2):c.1740G>A (p.Trp580Ter)
|
rs1564986609
|
|
NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys)
|
rs1564986609
|
|
NM_207122.2(EXT2):c.1743G>A (p.Lys581=)
|
rs772721212
|
|
NM_207122.2(EXT2):c.1752T>G (p.Ser584=)
|
|
|
NM_207122.2(EXT2):c.1764T>C (p.Asn588=)
|
rs2135259732
|
|
NM_207122.2(EXT2):c.1765G>A (p.Glu589Lys)
|
|
|
NM_207122.2(EXT2):c.1771T>C (p.Ser591Pro)
|
|
|
NM_207122.2(EXT2):c.1773C>T (p.Ser591=)
|
|
|
NM_207122.2(EXT2):c.1776G>A (p.Met592Ile)
|
|
|
NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
|
|
|
NM_207122.2(EXT2):c.1782C>T (p.Leu594=)
|
|
|
NM_207122.2(EXT2):c.1798T>C (p.Tyr600His)
|
|
|
NM_207122.2(EXT2):c.1799A>G (p.Tyr600Cys)
|
|
|
NM_207122.2(EXT2):c.1802A>G (p.His601Arg)
|
rs1590666587
|
|
NM_207122.2(EXT2):c.1802_1803delinsCT (p.His601Pro)
|
rs2135259942
|
|
NM_207122.2(EXT2):c.1803C>T (p.His601=)
|
rs1590666591
|
|
NM_207122.2(EXT2):c.1806+16C>A
|
|
|
NM_207122.2(EXT2):c.1806+5G>C
|
|
|
NM_207122.2(EXT2):c.1806+9G>T
|
rs2135260004
|
|
NM_207122.2(EXT2):c.1806+9del
|
rs372901342
|
|
NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys)
|
rs1590667793
|
|
NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
|
|
|
NM_207122.2(EXT2):c.1855T>C (p.Trp619Arg)
|
|
|
NM_207122.2(EXT2):c.1860A>G (p.Val620=)
|
|
|
NM_207122.2(EXT2):c.1863T>C (p.Asp621=)
|
|
|
NM_207122.2(EXT2):c.1876T>C (p.Cys626Arg)
|
rs2135263090
|
|
NM_207122.2(EXT2):c.1892T>C (p.Met631Thr)
|
|
|
NM_207122.2(EXT2):c.1894A>G (p.Asn632Asp)
|
rs1334534184
|
|
NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)
|
|
|
NM_207122.2(EXT2):c.18G>A (p.Lys6=)
|
rs375300731
|
|
NM_207122.2(EXT2):c.1900C>T (p.Leu634=)
|
rs1955932950
|
|
NM_207122.2(EXT2):c.1910A>G (p.Asn637Ser)
|
|
|
NM_207122.2(EXT2):c.1911C>T (p.Asn637=)
|
|
|
NM_207122.2(EXT2):c.1917G>A (p.Thr639=)
|
|
|
NM_207122.2(EXT2):c.192T>C (p.Arg64=)
|
rs2134966282
|
|
NM_207122.2(EXT2):c.1930del (p.Ile644fs)
|
|
|
NM_207122.2(EXT2):c.1935+19C>T
|
|
|
NM_207122.2(EXT2):c.1935+1G>T
|
|
|
NM_207122.2(EXT2):c.1935+3A>C
|
|
|
NM_207122.2(EXT2):c.1936-10C>T
|
|
|
NM_207122.2(EXT2):c.1936-12C>T
|
|
|
NM_207122.2(EXT2):c.1936-14T>C
|
rs2135267767
|
|
NM_207122.2(EXT2):c.1958A>G (p.Lys653Arg)
|
|
|
NM_207122.2(EXT2):c.1959G>A (p.Lys653=)
|
|
|
NM_207122.2(EXT2):c.1977_1987del (p.Ile660fs)
|
|
|
NM_207122.2(EXT2):c.1985G>C (p.Gly662Ala)
|
|
|
NM_207122.2(EXT2):c.198G>C (p.Val66=)
|
rs775542605
|
|
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
|
|
|
NM_207122.2(EXT2):c.2018+17C>A
|
|
|
NM_207122.2(EXT2):c.2019-2A>G
|
|
|
NM_207122.2(EXT2):c.2019-2del
|
|
|
NM_207122.2(EXT2):c.2028C>T (p.Cys676=)
|
|
|
NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del)
|
rs753223281
|
|
NM_207122.2(EXT2):c.203_258del (p.Val68fs)
|
rs1954081053
|
|
NM_207122.2(EXT2):c.2046A>G (p.Ser682=)
|
|
|
NM_207122.2(EXT2):c.2050T>C (p.Phe684Leu)
|
rs1956070950
|
|
NM_207122.2(EXT2):c.2054G>C (p.Gly685Ala)
|
rs1389539812
|
|
NM_207122.2(EXT2):c.205G>A (p.Val69Ile)
|
rs200809171
|
|
NM_207122.2(EXT2):c.2063C>T (p.Pro688Leu)
|
|
|
NM_207122.2(EXT2):c.2083C>T (p.Arg695Ter)
|
|
|
NM_207122.2(EXT2):c.20A>G (p.Tyr7Cys)
|
|
|
NM_207122.2(EXT2):c.2103C>T (p.Tyr701=)
|
|
|
NM_207122.2(EXT2):c.210G>A (p.Arg70=)
|
|
|
NM_207122.2(EXT2):c.211del (p.Leu71fs)
|
rs1954081372
|
|
NM_207122.2(EXT2):c.2120A>G (p.Glu707Gly)
|
rs769426160
|
|
NM_207122.2(EXT2):c.2126T>A (p.Leu709Gln)
|
|
|
NM_207122.2(EXT2):c.2130G>A (p.Lys710=)
|
rs2135284224
|
|
NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)
|
|
|
NM_207122.2(EXT2):c.226C>A (p.Pro76Thr)
|
rs999897934
|
|
NM_207122.2(EXT2):c.22A>G (p.Asn8Asp)
|
|
|
NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)
|
|
|
NM_207122.2(EXT2):c.239G>A (p.Arg80Gln)
|
rs763536229
|
|
NM_207122.2(EXT2):c.244del (p.Asp82fs)
|
rs1555002457
|
|
NM_207122.2(EXT2):c.244dup (p.Asp82fs)
|
rs1555002457
|
|
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala)
|
rs534539796
|
|
NM_207122.2(EXT2):c.245dup (p.Asp82fs)
|
rs1555002460
|
|
NM_207122.2(EXT2):c.248_249del (p.Leu83fs)
|
|
|
NM_207122.2(EXT2):c.257_263del (p.Arg86fs)
|
rs1954082764
|
|
NM_207122.2(EXT2):c.261G>A (p.Met87Ile)
|
rs758194845
|
|
NM_207122.2(EXT2):c.265A>G (p.Thr89Ala)
|
|
|
NM_207122.2(EXT2):c.278T>C (p.Val93Ala)
|
|
|
NM_207122.2(EXT2):c.282T>A (p.Tyr94Ter)
|
rs2134967046
|
|
NM_207122.2(EXT2):c.28C>A (p.Arg10=)
|
rs4755228
|
|
NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)
|
|
|
NM_207122.2(EXT2):c.306C>T (p.Asn102=)
|
rs2134967175
|
|
NM_207122.2(EXT2):c.307A>G (p.Lys103Glu)
|
rs907886635
|
|
NM_207122.2(EXT2):c.308A>C (p.Lys103Thr)
|
rs1321100355
|
|
NM_207122.2(EXT2):c.315G>A (p.Lys105=)
|
|
|
NM_207122.2(EXT2):c.31G>A (p.Gly11Ser)
|
rs886048274
|
|
NM_207122.2(EXT2):c.320A>G (p.Tyr107Cys)
|
|
|
NM_207122.2(EXT2):c.321T>A (p.Tyr107Ter)
|
rs767802942
|
|
NM_207122.2(EXT2):c.321T>C (p.Tyr107=)
|
|
|
NM_207122.2(EXT2):c.33T>C (p.Gly11=)
|
|
|
NM_207122.2(EXT2):c.362_363del (p.Ser121fs)
|
rs1565196489
|
|
NM_207122.2(EXT2):c.374C>G (p.Thr125Ser)
|
|
|
NM_207122.2(EXT2):c.376A>G (p.Ile126Val)
|
|
|
NM_207122.2(EXT2):c.377T>G (p.Ile126Ser)
|
rs2134967559
|
|
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr)
|
rs1389288265
|
|
NM_207122.2(EXT2):c.383_390del (p.Arg128fs)
|
|
|
NM_207122.2(EXT2):c.393T>C (p.Asn131=)
|
|
|
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln)
|
rs1954086080
|
|
NM_207122.2(EXT2):c.394G>T (p.Glu132Ter)
|
rs1954086080
|
|
NM_207122.2(EXT2):c.398T>G (p.Leu133Arg)
|
|
|
NM_207122.2(EXT2):c.398_401dup (p.Met135fs)
|
rs886041272
|
|
NM_207122.2(EXT2):c.398_402del (p.Leu133fs)
|
rs2134967717
|
|
NM_207122.2(EXT2):c.410T>C (p.Ile137Thr)
|
|
|
NM_207122.2(EXT2):c.417C>A (p.Asp139Glu)
|
|
|
NM_207122.2(EXT2):c.417C>T (p.Asp139=)
|
|
|
NM_207122.2(EXT2):c.422A>T (p.Asp141Val)
|
|
|
NM_207122.2(EXT2):c.423C>T (p.Asp141=)
|
rs199916419
|
|
NM_207122.2(EXT2):c.429C>A (p.Tyr143Ter)
|
rs1555002543
|
|
NM_207122.2(EXT2):c.430A>G (p.Thr144Ala)
|
|
|
NM_207122.2(EXT2):c.443A>G (p.Asn148Ser)
|
|
|
NM_207122.2(EXT2):c.446G>A (p.Arg149Gln)
|
|
|
NM_207122.2(EXT2):c.454_457del (p.Val154fs)
|
rs864309636
|
|
NM_207122.2(EXT2):c.456G>C (p.Leu152=)
|
|
|
NM_207122.2(EXT2):c.459_462del (p.Val154fs)
|
rs1954088614
|
|
NM_207122.2(EXT2):c.469A>C (p.Ile157Leu)
|
|
|
NM_207122.2(EXT2):c.471C>A (p.Ile157=)
|
rs747429885
|
|
NM_207122.2(EXT2):c.472G>A (p.Asp158Asn)
|
|
|
NM_207122.2(EXT2):c.473A>G (p.Asp158Gly)
|
rs1954089321
|
|
NM_207122.2(EXT2):c.474T>A (p.Asp158Glu)
|
|
|
NM_207122.2(EXT2):c.482del (p.Asn161fs)
|
rs1590548336
|
|
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr)
|
rs1954089713
|
|
NM_207122.2(EXT2):c.491C>T (p.Thr164Ile)
|
|
|
NM_207122.2(EXT2):c.495G>A (p.Leu165=)
|
|
|
NM_207122.2(EXT2):c.496C>T (p.Arg166Cys)
|
|
|
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter)
|
rs121918279
|
|
NM_207122.2(EXT2):c.516A>G (p.Gln172=)
|
|
|
NM_207122.2(EXT2):c.516del (p.Ala173fs)
|
rs2134968744
|
|
NM_207122.2(EXT2):c.518C>T (p.Ala173Val)
|
|
|
NM_207122.2(EXT2):c.519G>A (p.Ala173=)
|
|
|
NM_207122.2(EXT2):c.519G>C (p.Ala173=)
|
rs148121594
|
|
NM_207122.2(EXT2):c.520A>C (p.Met174Leu)
|
rs111589746
|
|
NM_207122.2(EXT2):c.520A>T (p.Met174Leu)
|
rs111589746
|
|
NM_207122.2(EXT2):c.528_529delinsAA (p.Leu177Ile)
|
|
|
NM_207122.2(EXT2):c.534T>C (p.Ser178=)
|
|
|
NM_207122.2(EXT2):c.536+10A>T
|
rs748432706
|
|
NM_207122.2(EXT2):c.536+14A>G
|
|
|
NM_207122.2(EXT2):c.536+15T>A
|
|
|
NM_207122.2(EXT2):c.536+17C>A
|
|
|
NM_207122.2(EXT2):c.536+19G>C
|
|
|
NM_207122.2(EXT2):c.536+1G>A
|
rs1954091762
|
|
NM_207122.2(EXT2):c.536+1G>C
|
rs1954091762
|
|
NM_207122.2(EXT2):c.536+20C>G
|
|
|
NM_207122.2(EXT2):c.536+7C>G
|
rs755324495
|
|
NM_207122.2(EXT2):c.537-4_561del
|
rs2134971478
|
|
NM_207122.2(EXT2):c.537G>A (p.Arg179=)
|
|
|
NM_207122.2(EXT2):c.539G>A (p.Trp180Ter)
|
rs886039565
|
|
NM_207122.2(EXT2):c.540G>A (p.Trp180Ter)
|
rs2134971524
|
|
NM_207122.2(EXT2):c.544C>T (p.Arg182Ter)
|
rs886039358
|
|
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln)
|
rs563383543
|
|
NM_207122.2(EXT2):c.545G>T (p.Arg182Leu)
|
rs563383543
|
|
NM_207122.2(EXT2):c.553_558del (p.Asn185_His186del)
|
rs761364688
|
|
NM_207122.2(EXT2):c.561G>C (p.Leu187=)
|
|
|
NM_207122.2(EXT2):c.561GTT[1] (p.Leu188del)
|
rs1954106603
|
|
NM_207122.2(EXT2):c.570C>T (p.Asn190=)
|
|
|
NM_207122.2(EXT2):c.572T>C (p.Met191Thr)
|
|
|
NM_207122.2(EXT2):c.587C>T (p.Pro196Leu)
|
|
|
NM_207122.2(EXT2):c.590del (p.Pro197fs)
|
rs1565197245
|
|
NM_207122.2(EXT2):c.599A>G (p.Asn200Ser)
|
rs1954107822
|
|
NM_207122.2(EXT2):c.602_603del (p.Thr201fs)
|
rs1954107890
|
|
NM_207122.2(EXT2):c.610del (p.Asp204fs)
|
|
|
NM_207122.2(EXT2):c.618C>A (p.Pro206=)
|
|
|
NM_207122.2(EXT2):c.61A>G (p.Lys21Glu)
|
rs2134965342
|
|
NM_207122.2(EXT2):c.620_626+158del
|
rs2134971964
|
|
NM_207122.2(EXT2):c.626+14T>C
|
|
|
NM_207122.2(EXT2):c.626+19G>A
|
rs370903897
|
|
NM_207122.2(EXT2):c.626+1G>A
|
rs1057521132
|
|
NM_207122.2(EXT2):c.626+1G>T
|
rs1057521132
|
|
NM_207122.2(EXT2):c.626+2T>G
|
rs1954108778
|
|
NM_207122.2(EXT2):c.626+2_626+5del
|
rs1954108641
|
|
NM_207122.2(EXT2):c.626+6A>T
|
|
|
NM_207122.2(EXT2):c.626+6_626+8del
|
|
|
NM_207122.2(EXT2):c.626G>A (p.Arg209Lys)
|
|
|
NM_207122.2(EXT2):c.627-18A>G
|
|
|
NM_207122.2(EXT2):c.627-2A>G
|
rs1064793854
|
|
NM_207122.2(EXT2):c.640G>T (p.Gly214Cys)
|
|
|
NM_207122.2(EXT2):c.64_68del (p.His22fs)
|
rs2134965356
|
|
NM_207122.2(EXT2):c.657G>A (p.Thr219=)
|
|
|
NM_207122.2(EXT2):c.658T>C (p.Trp220Arg)
|
|
|
NM_207122.2(EXT2):c.659G>A (p.Trp220Ter)
|
|
|
NM_207122.2(EXT2):c.65A>G (p.His22Arg)
|
rs1954077075
|
|
NM_207122.2(EXT2):c.668G>A (p.Arg223Gln)
|
|
|
NM_207122.2(EXT2):c.668G>C (p.Arg223Pro)
|
rs764379119
|
|
NM_207122.2(EXT2):c.669G>A (p.Arg223=)
|
rs141410374
|
|
NM_207122.2(EXT2):c.670C>T (p.Gln224Ter)
|
rs1565199251
|
|
NM_207122.2(EXT2):c.678C>A (p.Tyr226Ter)
|
|
|
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn)
|
rs121918280
|
|
NM_207122.2(EXT2):c.680A>G (p.Asp227Gly)
|
rs2134984829
|
|
NM_207122.2(EXT2):c.680A>T (p.Asp227Val)
|
rs2134984829
|
|
NM_207122.2(EXT2):c.687C>T (p.Ser229=)
|
rs2134984902
|
|
NM_207122.2(EXT2):c.695T>G (p.Val232Gly)
|
|
|
NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter)
|
rs1319747883
|
|
NM_207122.2(EXT2):c.69A>T (p.Arg23=)
|
rs2134965405
|
|
NM_207122.2(EXT2):c.705A>G (p.Pro235=)
|
|
|
NM_207122.2(EXT2):c.705_706del (p.Leu236fs)
|
rs2134985142
|
|
NM_207122.2(EXT2):c.717G>A (p.Glu239=)
|
|
|
NM_207122.2(EXT2):c.720G>A (p.Val240=)
|
|
|
NM_207122.2(EXT2):c.724C>T (p.Leu242Phe)
|
|
|
NM_207122.2(EXT2):c.729del (p.Glu244fs)
|
rs2134985455
|
|
NM_207122.2(EXT2):c.739C>G (p.Pro247Ala)
|
|
|
NM_207122.2(EXT2):c.740C>A (p.Pro247Gln)
|
rs372237191
|
|
NM_207122.2(EXT2):c.740C>G (p.Pro247Arg)
|
rs372237191
|
|
NM_207122.2(EXT2):c.743+1G>A
|
rs886039567
|
|
NM_207122.2(EXT2):c.743+1_743+2dup
|
rs1590555709
|
|
NM_207122.2(EXT2):c.744-10dup
|
|
|
NM_207122.2(EXT2):c.744-12T>C
|
|
|
NM_207122.2(EXT2):c.744-16T>G
|
|
|
NM_207122.2(EXT2):c.744-1G>A
|
rs1954372994
|
|
NM_207122.2(EXT2):c.744-20C>T
|
rs2135014483
|
|
NM_207122.2(EXT2):c.744-2A>C
|
rs864309638
|
|
NM_207122.2(EXT2):c.744-8C>T
|
|
|
NM_207122.2(EXT2):c.750del (p.Gln251fs)
|
rs2135014654
|
|
NM_207122.2(EXT2):c.755A>G (p.Tyr252Cys)
|
|
|
NM_207122.2(EXT2):c.756C>A (p.Tyr252Ter)
|
rs1954373394
|
|
NM_207122.2(EXT2):c.756C>G (p.Tyr252Ter)
|
|
|
NM_207122.2(EXT2):c.758T>A (p.Phe253Tyr)
|
|
|
NM_207122.2(EXT2):c.760C>T (p.Leu254Phe)
|
|
|
NM_207122.2(EXT2):c.773A>G (p.Gln258Arg)
|
rs2135014787
|
|
NM_207122.2(EXT2):c.779G>T (p.Gly260Val)
|
rs201895861
|
|
NM_207122.2(EXT2):c.779del (p.Gly260fs)
|
rs1410604006
|
|
NM_207122.2(EXT2):c.783_784del (p.His262fs)
|
rs2135014852
|
|
NM_207122.2(EXT2):c.785dup (p.His262fs)
|
rs1555005328
|
|
NM_207122.2(EXT2):c.798A>G (p.Arg266=)
|
|
|
NM_207122.2(EXT2):c.814C>T (p.Leu272Phe)
|
|
|
NM_207122.2(EXT2):c.817C>T (p.Gln273Ter)
|
rs1954375189
|
|
NM_207122.2(EXT2):c.82_143del (p.Thr28fs)
|
|
|
NM_207122.2(EXT2):c.839T>A (p.Val280Glu)
|
|
|
NM_207122.2(EXT2):c.844G>A (p.Val282Ile)
|
|
|
NM_207122.2(EXT2):c.84C>A (p.Thr28=)
|
|
|
NM_207122.2(EXT2):c.84C>T (p.Thr28=)
|
rs1954077511
|
|
NM_207122.2(EXT2):c.850G>A (p.Asp284Asn)
|
|
|
NM_207122.2(EXT2):c.856T>C (p.Cys286Arg)
|
|
|
NM_207122.2(EXT2):c.857G>A (p.Cys286Tyr)
|
|
|
NM_207122.2(EXT2):c.859del (p.Thr287fs)
|
|
|
NM_207122.2(EXT2):c.869C>A (p.Ser290Ter)
|
|
|
NM_207122.2(EXT2):c.871G>T (p.Glu291Ter)
|
|
|
NM_207122.2(EXT2):c.87_88del (p.Phe30fs)
|
rs886039744
|
|
NM_207122.2(EXT2):c.886G>C (p.Val296Leu)
|
rs1954377301
|
|
NM_207122.2(EXT2):c.887T>A (p.Val296Asp)
|
|
|
NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis)
|
|
|
NM_207122.2(EXT2):c.89del (p.Phe30fs)
|
rs2134965481
|
|
NM_207122.2(EXT2):c.906_907dup (p.His303fs)
|
rs886041199
|
|
NM_207122.2(EXT2):c.913G>C (p.Val305Leu)
|
|
|
NM_207122.2(EXT2):c.913del (p.Val305fs)
|
rs1954378294
|
|
NM_207122.2(EXT2):c.919G>C (p.Asp307His)
|
|
|
NM_207122.2(EXT2):c.920A>G (p.Asp307Gly)
|
rs1260423517
|
|
NM_207122.2(EXT2):c.928C>T (p.Gln310Ter)
|
rs1555005398
|
|
NM_207122.2(EXT2):c.929A>T (p.Gln310Leu)
|
|
|
NM_207122.2(EXT2):c.931G>A (p.Val311Met)
|
rs1449762239
|
|
NM_207122.2(EXT2):c.933G>A (p.Val311=)
|
|
|
NM_207122.2(EXT2):c.937C>T (p.Gln313Ter)
|
rs763718818
|
|
NM_207122.2(EXT2):c.939+11T>C
|
|
|
NM_207122.2(EXT2):c.939+14A>C
|
|
|
NM_207122.2(EXT2):c.939+1G>T
|
|
|
NM_207122.2(EXT2):c.939+1del
|
rs2135015765
|
|
NM_207122.2(EXT2):c.940-13del
|
rs765515424
|
|
NM_207122.2(EXT2):c.940-14T>G
|
|
|
NM_207122.2(EXT2):c.940-15T>C
|
|
|
NM_207122.2(EXT2):c.940-2A>G
|
rs1954411419
|
|
NM_207122.2(EXT2):c.942G>A (p.Glu314=)
|
|
|
NM_207122.2(EXT2):c.951C>T (p.Phe317=)
|
rs2135020214
|
|
NM_207122.2(EXT2):c.952T>C (p.Cys318Arg)
|
rs2135020224
|
|
NM_207122.2(EXT2):c.952_964del (p.Cys318fs)
|
rs1954411719
|
|
NM_207122.2(EXT2):c.953G>A (p.Cys318Tyr)
|
|
|
NM_207122.2(EXT2):c.955G>A (p.Val319Met)
|
|
|
NM_207122.2(EXT2):c.956T>C (p.Val319Ala)
|
|
|
NM_207122.2(EXT2):c.956_957del (p.Val319fs)
|
rs1590570665
|
|
NM_207122.2(EXT2):c.960del (p.Leu321fs)
|
rs1954412043
|
|
NM_207122.2(EXT2):c.964C>T (p.Arg322Cys)
|
|
|
NM_207122.2(EXT2):c.969A>G (p.Gly323=)
|
|
|
NM_207122.2(EXT2):c.988G>A (p.Val330Ile)
|
|
|
NM_207122.2(EXT2):c.999_1000inv (p.Val334Met)
|
|
|