NM_000642.3(AGL):c.256C>T (p.Gln86Ter)
|
rs193186112
|
0.00014
|
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)
|
rs12118058
|
0.00011
|
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)
|
rs267606640
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
0.00003
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)
|
rs781580050
|
0.00001
|
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)
|
rs763554006
|
0.00001
|
NM_000642.3(AGL):c.1082+1G>C
|
rs751112302
|
0.00001
|
NM_000642.3(AGL):c.1199T>C (p.Leu400Pro)
|
rs1275707003
|
0.00001
|
NM_000642.3(AGL):c.1735+1G>T
|
rs199922945
|
0.00001
|
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly)
|
rs764236940
|
0.00001
|
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp)
|
rs765749454
|
0.00001
|
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)
|
rs1057516870
|
0.00001
|
NM_000642.3(AGL):c.22del (p.Arg8fs)
|
rs1215043175
|
0.00001
|
NM_000642.3(AGL):c.2309-1G>A
|
rs786204481
|
0.00001
|
NM_000642.3(AGL):c.2309-2A>G
|
rs1253347170
|
0.00001
|
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)
|
rs772347559
|
0.00001
|
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)
|
rs531425980
|
0.00001
|
NM_000642.3(AGL):c.3259+1G>A
|
rs1394576194
|
0.00001
|
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter)
|
rs1432024176
|
0.00001
|
NM_000642.3(AGL):c.3554del (p.Thr1185fs)
|
rs764318570
|
0.00001
|
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)
|
rs113994131
|
0.00001
|
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)
|
rs775685508
|
0.00001
|
NM_000642.3(AGL):c.664+3A>G
|
rs370792293
|
0.00001
|
NM_000642.3(AGL):c.685C>T (p.Gln229Ter)
|
rs971749992
|
0.00001
|
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)
|
rs145362161
|
0.00001
|
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)
|
rs786204489
|
0.00001
|
NC_000001.10:g.(?_100335936)_(100336445_?)del
|
|
|
NC_000001.10:g.100330092T>A
|
rs794729208
|
|
NC_000001.11:g.(?_99921514)_(99921671_?)del
|
|
|
NC_000001.11:g.(?_99921524)_(99921661_?)del
|
|
|
NM_000642.2(AGL):c.84delG
|
rs1553183148
|
|
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)
|
rs1131691438
|
|
NM_000642.3(AGL):c.1038T>A (p.Cys346Ter)
|
rs1651358664
|
|
NM_000642.3(AGL):c.1041dup (p.Val348fs)
|
rs2101126325
|
|
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)
|
rs1057516567
|
|
NM_000642.3(AGL):c.1091del (p.Pro364fs)
|
|
|
NM_000642.3(AGL):c.1110C>A (p.Cys370Ter)
|
rs1651407980
|
|
NM_000642.3(AGL):c.1113dup (p.Asn372Ter)
|
|
|
NM_000642.3(AGL):c.1115del (p.Asn372fs)
|
|
|
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)
|
|
|
NM_000642.3(AGL):c.1159C>T (p.Arg387Ter)
|
rs1553185418
|
|
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs)
|
rs1057516741
|
|
NM_000642.3(AGL):c.1185+1G>A
|
rs1057516948
|
|
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)
|
rs771961377
|
|
NM_000642.3(AGL):c.121G>T (p.Gly41Ter)
|
rs1553183178
|
|
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter)
|
rs2101128697
|
|
NM_000642.3(AGL):c.1282A>G (p.Arg428Gly)
|
rs886039883
|
|
NM_000642.3(AGL):c.1283+2T>C
|
|
|
NM_000642.3(AGL):c.1284-1G>A
|
|
|
NM_000642.3(AGL):c.1284-2A>G
|
rs1651536973
|
|
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)
|
rs786204678
|
|
NM_000642.3(AGL):c.1391dup (p.Asp465fs)
|
rs786204616
|
|
NM_000642.3(AGL):c.1400del (p.Pro467fs)
|
rs1057516913
|
|
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)
|
rs766536350
|
|
NM_000642.3(AGL):c.140dup (p.Tyr47Ter)
|
rs1057517347
|
|
NM_000642.3(AGL):c.1417G>T (p.Glu473Ter)
|
rs1651556356
|
|
NM_000642.3(AGL):c.1423+1G>T
|
rs751952198
|
|
NM_000642.3(AGL):c.1427C>A (p.Ser476Ter)
|
|
|
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)
|
rs140095668
|
|
NM_000642.3(AGL):c.1444A>T (p.Arg482Ter)
|
|
|
NM_000642.3(AGL):c.1447G>T (p.Glu483Ter)
|
|
|
NM_000642.3(AGL):c.1494del (p.Lys498fs)
|
|
|
NM_000642.3(AGL):c.1517G>A (p.Trp506Ter)
|
|
|
NM_000642.3(AGL):c.1536C>A (p.Tyr512Ter)
|
|
|
NM_000642.3(AGL):c.1536_1545del (p.Lys511_Tyr512insTer)
|
rs1553185883
|
|
NM_000642.3(AGL):c.1597_1598del (p.Leu533fs)
|
rs1057516570
|
|
NM_000642.3(AGL):c.1611+2T>G
|
|
|
NM_000642.3(AGL):c.1612-1G>A
|
rs1327892944
|
|
NM_000642.3(AGL):c.1612-1G>C
|
rs1327892944
|
|
NM_000642.3(AGL):c.1637T>A (p.Leu546Ter)
|
|
|
NM_000642.3(AGL):c.1640_1641insGCTGG (p.Pro548fs)
|
|
|
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter)
|
rs1651872905
|
|
NM_000642.3(AGL):c.1680_1683dup (p.Asp562Ter)
|
|
|
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs)
|
rs1651876879
|
|
NM_000642.3(AGL):c.1727T>A (p.Leu576Ter)
|
|
|
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter)
|
rs1651881949
|
|
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser)
|
rs1570442236
|
|
NM_000642.3(AGL):c.1736-11A>G
|
rs2101148246
|
|
NM_000642.3(AGL):c.1782C>A (p.Tyr594Ter)
|
rs1057516563
|
|
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)
|
rs777871903
|
|
NM_000642.3(AGL):c.1858dup (p.Leu620fs)
|
|
|
NM_000642.3(AGL):c.1859T>C (p.Leu620Pro)
|
|
|
NM_000642.3(AGL):c.1883dup (p.Asn628fs)
|
|
|
NM_000642.3(AGL):c.1890T>A (p.Cys630Ter)
|
rs1651951474
|
|
NM_000642.3(AGL):c.18_19del (p.Gln6fs)
|
rs113994127
|
|
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
|
|
|
NM_000642.3(AGL):c.193_194del (p.Leu65fs)
|
|
|
NM_000642.3(AGL):c.1942dup (p.Ser648fs)
|
rs2100758555
|
|
NM_000642.3(AGL):c.1998del (p.Gln667fs)
|
|
|
NM_000642.3(AGL):c.2001+1G>T
|
|
|
NM_000642.3(AGL):c.2001+2T>C
|
rs1057516708
|
|
NM_000642.3(AGL):c.2002-1G>C
|
rs2100759240
|
|
NM_000642.3(AGL):c.2011_2012del (p.Val671fs)
|
rs1057516666
|
|
NM_000642.3(AGL):c.2011del (p.Val671fs)
|
|
|
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)
|
rs1652003965
|
|
NM_000642.3(AGL):c.2034del (p.Lys679fs)
|
|
|
NM_000642.3(AGL):c.2036del (p.Lys679fs)
|
rs2100759432
|
|
NM_000642.3(AGL):c.2062_2065del (p.Asn688fs)
|
|
|
NM_000642.3(AGL):c.2109T>A (p.Cys703Ter)
|
|
|
NM_000642.3(AGL):c.2120_2121del (p.Lys707fs)
|
rs1553186577
|
|
NM_000642.3(AGL):c.2123_2124insA (p.His709fs)
|
|
|
NM_000642.3(AGL):c.214_215del (p.Glu72fs)
|
rs754978531
|
|
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)
|
rs1652018859
|
|
NM_000642.3(AGL):c.2158-1G>T
|
|
|
NM_000642.3(AGL):c.2158-2A>G
|
rs878959417
|
|
NM_000642.3(AGL):c.2196_2197delinsGTAT (p.Thr733fs)
|
|
|
NM_000642.3(AGL):c.2207C>A (p.Ser736Ter)
|
|
|
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs)
|
rs1553186613
|
|
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)
|
rs767346840
|
|
NM_000642.3(AGL):c.2277C>A (p.Tyr759Ter)
|
|
|
NM_000642.3(AGL):c.2278del (p.Ser760fs)
|
rs1057517136
|
|
NM_000642.3(AGL):c.2308+2T>A
|
|
|
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
|
|
|
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
|
|
|
NM_000642.3(AGL):c.2399dup (p.Asp801fs)
|
rs1652268068
|
|
NM_000642.3(AGL):c.2433+1G>A
|
rs2100768428
|
|
NM_000642.3(AGL):c.2434-1G>T
|
rs2100768726
|
|
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)
|
rs1553187237
|
|
NM_000642.3(AGL):c.2465del (p.Gly822fs)
|
|
|
NM_000642.3(AGL):c.2480_2481insA (p.Pro828fs)
|
|
|
NM_000642.3(AGL):c.2516dup (p.Asn839fs)
|
|
|
NM_000642.3(AGL):c.2525del (p.Pro842fs)
|
rs1057517425
|
|
NM_000642.3(AGL):c.2530dup (p.Ser844fs)
|
|
|
NM_000642.3(AGL):c.2538dup (p.Ile847fs)
|
rs1057516984
|
|
NM_000642.3(AGL):c.2569C>T (p.Gln857Ter)
|
rs1652306026
|
|
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter)
|
rs1057516254
|
|
NM_000642.3(AGL):c.2623A>T (p.Lys875Ter)
|
|
|
NM_000642.3(AGL):c.2670del (p.Pro891fs)
|
rs764591009
|
|
NM_000642.3(AGL):c.2682-2A>G
|
rs1185321132
|
|
NM_000642.3(AGL):c.2685_2686del (p.Ala896fs)
|
|
|
NM_000642.3(AGL):c.2692A>T (p.Arg898Ter)
|
|
|
NM_000642.3(AGL):c.2702T>A (p.Leu901Ter)
|
|
|
NM_000642.3(AGL):c.2724_2725del (p.Tyr909fs)
|
|
|
NM_000642.3(AGL):c.2738C>A (p.Ser913Ter)
|
rs1652583223
|
|
NM_000642.3(AGL):c.2740G>T (p.Glu914Ter)
|
|
|
NM_000642.3(AGL):c.2783G>A (p.Trp928Ter)
|
|
|
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)
|
rs767529587
|
|
NM_000642.3(AGL):c.2810_2812+21del
|
|
|
NM_000642.3(AGL):c.2812+1G>C
|
|
|
NM_000642.3(AGL):c.2869del (p.Cys957fs)
|
|
|
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter)
|
rs1652877420
|
|
NM_000642.3(AGL):c.2895G>A (p.Trp965Ter)
|
rs2100788592
|
|
NM_000642.3(AGL):c.289C>T (p.Gln97Ter)
|
rs1553183220
|
|
NM_000642.3(AGL):c.2905dup (p.Tyr969fs)
|
rs1652879873
|
|
NM_000642.3(AGL):c.2906_2907del (p.Tyr969fs)
|
rs1553188559
|
|
NM_000642.3(AGL):c.293+1G>T
|
|
|
NM_000642.3(AGL):c.293+1del
|
rs777857395
|
|
NM_000642.3(AGL):c.294-1G>C
|
rs757967016
|
|
NM_000642.3(AGL):c.294-2A>T
|
rs1057516868
|
|
NM_000642.3(AGL):c.2949+2T>A
|
rs750492389
|
|
NM_000642.3(AGL):c.2949+2T>C
|
rs750492389
|
|
NM_000642.3(AGL):c.2949+5G>A
|
rs1652885754
|
|
NM_000642.3(AGL):c.2950-1G>A
|
rs1057516793
|
|
NM_000642.3(AGL):c.2950-1G>C
|
rs1057516793
|
|
NM_000642.3(AGL):c.2950-2A>C
|
rs770438130
|
|
NM_000642.3(AGL):c.296del (p.Asn99fs)
|
|
|
NM_000642.3(AGL):c.2977_2982del (p.Phe993_Tyr994del)
|
rs1064795630
|
|
NM_000642.3(AGL):c.2989C>T (p.Gln997Ter)
|
|
|
NM_000642.3(AGL):c.3011del (p.Pro1004fs)
|
rs1057516306
|
|
NM_000642.3(AGL):c.3054_3083+34del
|
|
|
NM_000642.3(AGL):c.3083+1G>A
|
rs2100790188
|
|
NM_000642.3(AGL):c.3083+1G>T
|
|
|
NM_000642.3(AGL):c.3083+2T>C
|
rs1057516952
|
|
NM_000642.3(AGL):c.3084-1G>A
|
|
|
NM_000642.3(AGL):c.3090_3091del (p.Gln1031fs)
|
|
|
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
|
|
|
NM_000642.3(AGL):c.3100_3101del (p.Ser1034fs)
|
|
|
NM_000642.3(AGL):c.3178del (p.Ser1060fs)
|
|
|
NM_000642.3(AGL):c.3204_3205dup (p.Arg1069fs)
|
|
|
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)
|
rs771069887
|
|
NM_000642.3(AGL):c.3221_3222del (p.Thr1074fs)
|
|
|
NM_000642.3(AGL):c.3223A>T (p.Lys1075Ter)
|
|
|
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)
|
rs1553188849
|
|
NM_000642.3(AGL):c.3238del (p.Cys1080fs)
|
|
|
NM_000642.3(AGL):c.3259+1G>C
|
|
|
NM_000642.3(AGL):c.3260-2A>T
|
rs775904482
|
|
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)
|
rs786204490
|
|
NM_000642.3(AGL):c.3299del (p.Gly1100fs)
|
|
|
NM_000642.3(AGL):c.3302G>A (p.Arg1101Lys)
|
|
|
NM_000642.3(AGL):c.3362+1G>A
|
rs1553189468
|
|
NM_000642.3(AGL):c.3362+2T>C
|
rs2100804114
|
|
NM_000642.3(AGL):c.3362G>A (p.Arg1121Lys)
|
rs1653326843
|
|
NM_000642.3(AGL):c.3363-1G>A
|
rs1057516513
|
|
NM_000642.3(AGL):c.337_338del (p.Leu113fs)
|
|
|
NM_000642.3(AGL):c.338T>A (p.Leu113Ter)
|
|
|
NM_000642.3(AGL):c.3439A>T (p.Arg1147Ter)
|
rs267606639
|
|
NM_000642.3(AGL):c.3443dup (p.Tyr1148Ter)
|
rs1057517079
|
|
NM_000642.3(AGL):c.3444C>G (p.Tyr1148Ter)
|
rs776977863
|
|
NM_000642.3(AGL):c.3450T>A (p.Cys1150Ter)
|
|
|
NM_000642.3(AGL):c.3480T>A (p.Cys1160Ter)
|
rs763652784
|
|
NM_000642.3(AGL):c.348_373del (p.Ala117fs)
|
rs1057516308
|
|
NM_000642.3(AGL):c.3498_3499del (p.Lys1166fs)
|
|
|
NM_000642.3(AGL):c.3538del (p.Ser1180fs)
|
rs1553190316
|
|
NM_000642.3(AGL):c.3588_3588+14del
|
|
|
NM_000642.3(AGL):c.3588_3588+2del
|
|
|
NM_000642.3(AGL):c.3589-1G>A
|
rs1289339080
|
|
NM_000642.3(AGL):c.3589-3C>G
|
rs1653935585
|
|
NM_000642.3(AGL):c.3604G>T (p.Glu1202Ter)
|
|
|
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter)
|
rs775498547
|
|
NM_000642.3(AGL):c.3630del (p.Lys1210fs)
|
rs1653938652
|
|
NM_000642.3(AGL):c.3662del (p.Asn1221fs)
|
|
|
NM_000642.3(AGL):c.3674_3696del (p.Gln1225fs)
|
rs1553190751
|
|
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs)
|
rs762545015
|
|
NM_000642.3(AGL):c.3700+1G>A
|
rs2100825216
|
|
NM_000642.3(AGL):c.3700+2T>C
|
|
|
NM_000642.3(AGL):c.3701-2A>G
|
|
|
NM_000642.3(AGL):c.3718G>T (p.Gly1240Ter)
|
rs1654687449
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NM_000642.3(AGL):c.3733del (p.Thr1245fs)
|
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NM_000642.3(AGL):c.3745del (p.Tyr1249fs)
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NM_000642.3(AGL):c.3771del (p.Thr1258fs)
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|
|
NM_000642.3(AGL):c.3772_3776del (p.Thr1258fs)
|
rs2100849229
|
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NM_000642.3(AGL):c.3787del (p.Met1263fs)
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|
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NM_000642.3(AGL):c.3790G>T (p.Gly1264Ter)
|
|
|
NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter)
|
rs1654695322
|
|
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter)
|
rs1057517017
|
|
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)
|
rs867341758
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|
NM_000642.3(AGL):c.3835A>T (p.Arg1279Ter)
|
rs1654701324
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|
NM_000642.3(AGL):c.3882dup (p.Arg1295fs)
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|
|
NM_000642.3(AGL):c.3895G>T (p.Glu1299Ter)
|
rs1654817532
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NM_000642.3(AGL):c.3899T>G (p.Leu1300Ter)
|
rs1654818141
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|
NM_000642.3(AGL):c.3911del (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.3941_3949+12del
|
rs1553192718
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NM_000642.3(AGL):c.3949+1G>C
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|
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NM_000642.3(AGL):c.3972T>G (p.Tyr1324Ter)
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|
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NM_000642.3(AGL):c.3G>C (p.Met1Ile)
|
rs1553181400
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|
NM_000642.3(AGL):c.401_460+75delinsTATTACAT
|
|
|
NM_000642.3(AGL):c.408T>A (p.Cys136Ter)
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NM_000642.3(AGL):c.4099G>T (p.Gly1367Ter)
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|
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NM_000642.3(AGL):c.4100del (p.Gly1367fs)
|
rs777120567
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|
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter)
|
rs762602838
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|
NM_000642.3(AGL):c.4162-1G>A
|
rs1490339052
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NM_000642.3(AGL):c.4162-2A>T
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|
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NM_000642.3(AGL):c.4162-5_4162-1delinsCTAGTGAAT
|
|
|
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer)
|
rs1293077915
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NM_000642.3(AGL):c.4175_4176del (p.Phe1392fs)
|
rs1057517405
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|
NM_000642.3(AGL):c.4197del (p.Ala1400fs)
|
rs786204595
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NM_000642.3(AGL):c.4204G>T (p.Glu1402Ter)
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|
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NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
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NM_000642.3(AGL):c.4243A>T (p.Lys1415Ter)
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|
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NM_000642.3(AGL):c.4249_4250del (p.Leu1417fs)
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|
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NM_000642.3(AGL):c.4255_4259+150del
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|
|
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
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|
|
NM_000642.3(AGL):c.4259+5G>A
|
rs780504025
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NM_000642.3(AGL):c.4260-1G>A
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|
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NM_000642.3(AGL):c.4260-2A>C
|
|
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NM_000642.3(AGL):c.4275T>A (p.Cys1425Ter)
|
rs1655117886
|
|
NM_000642.3(AGL):c.4295T>A (p.Leu1432Ter)
|
|
|
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs)
|
rs1057516994
|
|
NM_000642.3(AGL):c.4323del (p.Gly1442fs)
|
rs1057516994
|
|
NM_000642.3(AGL):c.4347+1G>A
|
rs1553193463
|
|
NM_000642.3(AGL):c.4347+1G>T
|
rs1553193463
|
|
NM_000642.3(AGL):c.4348-2A>T
|
rs1353062665
|
|
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter)
|
rs1553193486
|
|
NM_000642.3(AGL):c.437del (p.Arg146fs)
|
rs1057517344
|
|
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
|
rs1286364615
|
|
NM_000642.3(AGL):c.442del (p.Arg148fs)
|
rs1057516397
|
|
NM_000642.3(AGL):c.4481+1G>C
|
rs1553193529
|
|
NM_000642.3(AGL):c.4481+2T>G
|
rs1553193530
|
|
NM_000642.3(AGL):c.4506_4510del (p.Glu1502fs)
|
rs1064795728
|
|
NM_000642.3(AGL):c.454G>T (p.Glu152Ter)
|
rs1650125542
|
|
NM_000642.3(AGL):c.4562C>T (p.Ser1521Leu)
|
|
|
NM_000642.3(AGL):c.458C>A (p.Ser153Ter)
|
rs1650126015
|
|
NM_000642.3(AGL):c.4599G>C (p.Ter1533Tyr)
|
rs1655521504
|
|
NM_000642.3(AGL):c.460+1G>A
|
rs930434905
|
|
NM_000642.3(AGL):c.471del (p.Met157fs)
|
|
|
NM_000642.3(AGL):c.500dup (p.Leu168fs)
|
rs1443902661
|
|
NM_000642.3(AGL):c.506_507insA (p.Ser169_Arg170insTer)
|
|
|
NM_000642.3(AGL):c.516C>A (p.Cys172Ter)
|
rs1650330685
|
|
NM_000642.3(AGL):c.535_538del (p.Leu179fs)
|
rs794727706
|
|
NM_000642.3(AGL):c.538G>T (p.Glu180Ter)
|
|
|
NM_000642.3(AGL):c.557C>G (p.Ser186Ter)
|
|
|
NM_000642.3(AGL):c.567dup (p.Arg190Ter)
|
rs1650334882
|
|
NM_000642.3(AGL):c.604del (p.Glu202fs)
|
|
|
NM_000642.3(AGL):c.615_616insTTCCT (p.Lys206fs)
|
|
|
NM_000642.3(AGL):c.619del (p.Glu207fs)
|
|
|
NM_000642.3(AGL):c.623G>A (p.Trp208Ter)
|
|
|
NM_000642.3(AGL):c.643G>A (p.Asp215Asn)
|
|
|
NM_000642.3(AGL):c.64del (p.Leu22fs)
|
rs1057517057
|
|
NM_000642.3(AGL):c.659A>G (p.His220Arg)
|
rs1557749651
|
|
NM_000642.3(AGL):c.664+1G>A
|
rs61811105
|
|
NM_000642.3(AGL):c.664+1G>C
|
rs61811105
|
|
NM_000642.3(AGL):c.664+2T>C
|
rs1650347038
|
|
NM_000642.3(AGL):c.665-2A>G
|
|
|
NM_000642.3(AGL):c.667del (p.Ala223fs)
|
|
|
NM_000642.3(AGL):c.672dup (p.Ser225Ter)
|
rs1057516471
|
|
NM_000642.3(AGL):c.680G>A (p.Trp227Ter)
|
rs145929061
|
|
NM_000642.3(AGL):c.681G>A (p.Trp227Ter)
|
rs753914653
|
|
NM_000642.3(AGL):c.743G>A (p.Trp248Ter)
|
|
|
NM_000642.3(AGL):c.772T>C (p.Ser258Pro)
|
rs886039873
|
|
NM_000642.3(AGL):c.809dup (p.Ile271fs)
|
|
|
NM_000642.3(AGL):c.82+1G>A
|
rs1354714214
|
|
NM_000642.3(AGL):c.82+1G>C
|
|
|
NM_000642.3(AGL):c.82+1G>T
|
|
|
NM_000642.3(AGL):c.82+2T>G
|
|
|
NM_000642.3(AGL):c.83-2A>G
|
|
|
NM_000642.3(AGL):c.842_846+29del
|
|
|
NM_000642.3(AGL):c.854del (p.Arg285fs)
|
rs1553184620
|
|
NM_000642.3(AGL):c.861_864del (p.Ile288fs)
|
rs1571243699
|
|
NM_000642.3(AGL):c.867G>A (p.Trp289Ter)
|
rs1650926061
|
|
NM_000642.3(AGL):c.921del (p.Asn307fs)
|
rs1571243862
|
|
NM_000642.3(AGL):c.947_948del (p.Leu316fs)
|
rs1650934988
|
|
NM_000642.3(AGL):c.958+1G>C
|
|
|
NM_000642.3(AGL):c.959-61_965dup
|
rs1553185268
|
|
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)
|
rs757987101
|
|
NM_000642.3(AGL):c.991C>T (p.Gln331Ter)
|
rs1651353836
|
|