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.4525C>T (p.Gln1509Ter)
|
rs1480850606
|
0.00007
|
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)
|
rs113994130
|
0.00006
|
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.3965del (p.Val1322fs)
|
rs113994132
|
0.00004
|
NM_000642.3(AGL):c.1614C>G (p.Tyr538Ter)
|
rs1188310172
|
0.00003
|
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
0.00003
|
NM_000642.3(AGL):c.2681+1G>A
|
rs201201443
|
0.00003
|
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter)
|
rs771853367
|
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.1222C>T (p.Arg408Ter)
|
rs113994128
|
0.00001
|
NM_000642.3(AGL):c.1571G>A (p.Arg524His)
|
rs758182700
|
0.00001
|
NM_000642.3(AGL):c.1735+1G>T
|
rs199922945
|
0.00001
|
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter)
|
rs765367405
|
0.00001
|
NM_000642.3(AGL):c.1900-2A>G
|
rs1254391875
|
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.2520_2524dup (p.Pro842fs)
|
rs759727721
|
0.00001
|
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter)
|
rs773095419
|
0.00001
|
NM_000642.3(AGL):c.276del (p.Gln92fs)
|
rs1057517243
|
0.00001
|
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)
|
rs531425980
|
0.00001
|
NM_000642.3(AGL):c.3014del (p.Cys1005fs)
|
rs754653701
|
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.3976del (p.Glu1326fs)
|
rs1654902207
|
0.00001
|
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)
|
rs775685508
|
0.00001
|
NM_000642.3(AGL):c.595C>T (p.Gln199Ter)
|
rs780694207
|
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.853C>T (p.Arg285Ter)
|
rs755747010
|
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.(?_100316599)_(100316700_?)del
|
|
|
NC_000001.10:g.(?_100340233)_(100343394_?)del
|
|
|
NC_000001.10:g.(?_100366182)_(100368360_?)del
|
|
|
NC_000001.10:g.(?_100366308)_(100367832_?)del
|
|
|
NC_000001.10:g.(?_100368229)_(100368360_?)del
|
|
|
NC_000001.10:g.(?_100380935)_(100382063_?)del
|
|
|
NC_000001.11:g.(?_99892422)_(99892617_?)del
|
|
|
NC_000001.11:g.(?_99902663)_(99902814_?)del
|
|
|
NC_000001.11:g.(?_99910692)_(99910867_?)del
|
|
|
NC_000001.11:g.(?_99910692)_(99913758_?)del
|
|
|
NC_000001.11:g.99891220del
|
rs2100788198
|
|
NM_000642.3(AGL):c.1000dup (p.Thr334fs)
|
rs1553185302
|
|
NM_000642.3(AGL):c.1002_1005dup (p.Ile336fs)
|
|
|
NM_000642.3(AGL):c.1017del (p.Glu340fs)
|
|
|
NM_000642.3(AGL):c.1020del (p.Glu340fs)
|
rs1651357012
|
|
NM_000642.3(AGL):c.1041dup (p.Val348fs)
|
rs2101126325
|
|
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)
|
rs1057516567
|
|
NM_000642.3(AGL):c.1102del (p.Glu368fs)
|
rs1553185403
|
|
NM_000642.3(AGL):c.1107del (p.Glu369fs)
|
|
|
NM_000642.3(AGL):c.1142_1150del (p.Leu381_Glu384delinsTer)
|
|
|
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.1175del (p.His392fs)
|
rs2101128055
|
|
NM_000642.3(AGL):c.1180G>T (p.Glu394Ter)
|
rs1570433686
|
|
NM_000642.3(AGL):c.1183C>T (p.Gln395Ter)
|
|
|
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)
|
rs771961377
|
|
NM_000642.3(AGL):c.1218T>G (p.Tyr406Ter)
|
|
|
NM_000642.3(AGL):c.1230_1233del (p.Gly411fs)
|
rs1553185474
|
|
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter)
|
rs2101128697
|
|
NM_000642.3(AGL):c.1253dup (p.Val419fs)
|
|
|
NM_000642.3(AGL):c.1258_1265del (p.Thr420fs)
|
|
|
NM_000642.3(AGL):c.133dup (p.Thr45fs)
|
|
|
NM_000642.3(AGL):c.1375_1378del (p.Asn459fs)
|
rs1651548991
|
|
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)
|
rs786204678
|
|
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)
|
rs766536350
|
|
NM_000642.3(AGL):c.1413_1416del (p.Phe471fs)
|
|
|
NM_000642.3(AGL):c.1423+1G>C
|
rs751952198
|
|
NM_000642.3(AGL):c.1423+1G>T
|
rs751952198
|
|
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)
|
rs140095668
|
|
NM_000642.3(AGL):c.1468_1469del (p.Ser490fs)
|
|
|
NM_000642.3(AGL):c.148dup (p.Tyr50fs)
|
|
|
NM_000642.3(AGL):c.1497_1500dup (p.Asp501fs)
|
rs1204840140
|
|
NM_000642.3(AGL):c.1497del (p.Glu500fs)
|
|
|
NM_000642.3(AGL):c.1505_1514del (p.Cys502fs)
|
rs2101136443
|
|
NM_000642.3(AGL):c.1513dup (p.Leu505fs)
|
|
|
NM_000642.3(AGL):c.1533dup (p.Tyr512fs)
|
rs776733170
|
|
NM_000642.3(AGL):c.1537_1538del (p.Tyr512_Thr513insTer)
|
rs2101136597
|
|
NM_000642.3(AGL):c.1565del (p.Gly522fs)
|
rs1570438459
|
|
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter)
|
rs1553185905
|
|
NM_000642.3(AGL):c.158del (p.Pro53fs)
|
rs1650040391
|
|
NM_000642.3(AGL):c.1639C>T (p.Gln547Ter)
|
rs2101145154
|
|
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter)
|
rs1651872905
|
|
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs)
|
rs1651876879
|
|
NM_000642.3(AGL):c.168_169del (p.Thr56_Phe57insTer)
|
|
|
NM_000642.3(AGL):c.1692del (p.Asp564fs)
|
rs1651877300
|
|
NM_000642.3(AGL):c.1700_1701del (p.Phe567fs)
|
|
|
NM_000642.3(AGL):c.1717dup (p.Ile573fs)
|
rs1651880905
|
|
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter)
|
rs1651881949
|
|
NM_000642.3(AGL):c.1735+1_1735+15del
|
rs1651883514
|
|
NM_000642.3(AGL):c.175del (p.Arg59fs)
|
rs2101084835
|
|
NM_000642.3(AGL):c.1830del (p.Arg610fs)
|
rs2101148971
|
|
NM_000642.3(AGL):c.1858_1859del (p.Leu620fs)
|
|
|
NM_000642.3(AGL):c.1866_1869dup (p.Ile624fs)
|
rs2101149228
|
|
NM_000642.3(AGL):c.18_19del (p.Gln6fs)
|
rs113994127
|
|
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
|
|
|
NM_000642.3(AGL):c.1942dup (p.Ser648fs)
|
rs2100758555
|
|
NM_000642.3(AGL):c.1972A>T (p.Arg658Ter)
|
|
|
NM_000642.3(AGL):c.2001+5G>A
|
rs1553186489
|
|
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)
|
rs1652003965
|
|
NM_000642.3(AGL):c.2036del (p.Lys679fs)
|
rs2100759432
|
|
NM_000642.3(AGL):c.206dup (p.Asn69fs)
|
|
|
NM_000642.3(AGL):c.2094_2127del (p.Ile699fs)
|
rs2100759667
|
|
NM_000642.3(AGL):c.2144del (p.Lys715fs)
|
rs1652017784
|
|
NM_000642.3(AGL):c.214_215del (p.Glu72fs)
|
rs754978531
|
|
NM_000642.3(AGL):c.2151del (p.Phe717fs)
|
|
|
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)
|
rs1652018859
|
|
NM_000642.3(AGL):c.2157+1G>T
|
|
|
NM_000642.3(AGL):c.2167_2179del (p.Asp723fs)
|
|
|
NM_000642.3(AGL):c.2204_2205del (p.His735fs)
|
|
|
NM_000642.3(AGL):c.2221C>T (p.Gln741Ter)
|
|
|
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)
|
rs767346840
|
|
NM_000642.3(AGL):c.2278del (p.Ser760fs)
|
rs1057517136
|
|
NM_000642.3(AGL):c.2346del (p.Ile782fs)
|
rs2100768023
|
|
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
|
|
|
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
|
|
|
NM_000642.3(AGL):c.2353_2354del (p.Asn785fs)
|
|
|
NM_000642.3(AGL):c.2362_2392dup (p.Gly798delinsAlaLeuTer)
|
|
|
NM_000642.3(AGL):c.2384C>A (p.Ser795Ter)
|
rs1206517501
|
|
NM_000642.3(AGL):c.2397dup (p.Pro800fs)
|
|
|
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)
|
rs1553187237
|
|
NM_000642.3(AGL):c.2458C>T (p.Gln820Ter)
|
|
|
NM_000642.3(AGL):c.2494dup (p.Ile832fs)
|
rs2100768945
|
|
NM_000642.3(AGL):c.2500del (p.Glu834fs)
|
|
|
NM_000642.3(AGL):c.251dup (p.Asn84fs)
|
rs756175624
|
|
NM_000642.3(AGL):c.2538dup (p.Ile847fs)
|
rs1057516984
|
|
NM_000642.3(AGL):c.2546+1G>A
|
|
|
NM_000642.3(AGL):c.2578del (p.Val860fs)
|
|
|
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter)
|
rs1057516254
|
|
NM_000642.3(AGL):c.2670del (p.Pro891fs)
|
rs764591009
|
|
NM_000642.3(AGL):c.2681+1G>T
|
rs201201443
|
|
NM_000642.3(AGL):c.2681+2T>G
|
|
|
NM_000642.3(AGL):c.2682-8A>G
|
|
|
NM_000642.3(AGL):c.2690_2691dup (p.Arg898fs)
|
|
|
NM_000642.3(AGL):c.2707G>T (p.Glu903Ter)
|
|
|
NM_000642.3(AGL):c.2727C>G (p.Tyr909Ter)
|
rs1239498701
|
|
NM_000642.3(AGL):c.2793del (p.Lys932fs)
|
rs2100779184
|
|
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)
|
rs767529587
|
|
NM_000642.3(AGL):c.2823dup (p.Val942fs)
|
rs1652870529
|
|
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter)
|
rs1652877420
|
|
NM_000642.3(AGL):c.289C>T (p.Gln97Ter)
|
rs1553183220
|
|
NM_000642.3(AGL):c.2905dup (p.Tyr969fs)
|
rs1652879873
|
|
NM_000642.3(AGL):c.293+1G>T
|
|
|
NM_000642.3(AGL):c.2936del (p.Gly979fs)
|
|
|
NM_000642.3(AGL):c.2960G>A (p.Trp987Ter)
|
rs1652906180
|
|
NM_000642.3(AGL):c.2963del (p.Leu988fs)
|
rs1313973421
|
|
NM_000642.3(AGL):c.3003C>A (p.Tyr1001Ter)
|
|
|
NM_000642.3(AGL):c.3011del (p.Pro1004fs)
|
rs1057516306
|
|
NM_000642.3(AGL):c.3033_3036del (p.Ile1012fs)
|
|
|
NM_000642.3(AGL):c.3049dup (p.Thr1017fs)
|
rs1557772907
|
|
NM_000642.3(AGL):c.3088del (p.Val1030fs)
|
|
|
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
|
|
|
NM_000642.3(AGL):c.3110_3111dup (p.Lys1038Ter)
|
|
|
NM_000642.3(AGL):c.3133_3137del (p.Val1045fs)
|
|
|
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter)
|
rs774926455
|
|
NM_000642.3(AGL):c.3192_3197delinsTTCACCTA (p.Met1064fs)
|
|
|
NM_000642.3(AGL):c.3204_3205del (p.Tyr1068_Arg1069delinsTer)
|
rs1553188832
|
|
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)
|
rs771069887
|
|
NM_000642.3(AGL):c.3225del (p.Glu1076fs)
|
|
|
NM_000642.3(AGL):c.3227_3231del (p.Glu1076fs)
|
|
|
NM_000642.3(AGL):c.3229_3230del (p.Lys1077fs)
|
rs1557773719
|
|
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)
|
rs1553188849
|
|
NM_000642.3(AGL):c.328del (p.Asp110fs)
|
rs2101087046
|
|
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)
|
rs786204490
|
|
NM_000642.3(AGL):c.3299G>A (p.Gly1100Glu)
|
|
|
NM_000642.3(AGL):c.3299del (p.Gly1100fs)
|
|
|
NM_000642.3(AGL):c.3317_3321del (p.Ala1106fs)
|
|
|
NM_000642.3(AGL):c.3362+1G>A
|
rs1553189468
|
|
NM_000642.3(AGL):c.3362+2T>C
|
rs2100804114
|
|
NM_000642.3(AGL):c.3374T>G (p.Leu1125Ter)
|
rs2100817917
|
|
NM_000642.3(AGL):c.3434_3435del (p.Tyr1145fs)
|
|
|
NM_000642.3(AGL):c.3441del (p.Arg1147fs)
|
rs1653759340
|
|
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter)
|
rs776977863
|
|
NM_000642.3(AGL):c.3458del (p.Ala1153fs)
|
rs2100818312
|
|
NM_000642.3(AGL):c.3465G>A (p.Trp1155Ter)
|
rs762547610
|
|
NM_000642.3(AGL):c.3470G>A (p.Trp1157Ter)
|
|
|
NM_000642.3(AGL):c.3484C>T (p.Gln1162Ter)
|
rs2100818414
|
|
NM_000642.3(AGL):c.348_373del (p.Ala117fs)
|
rs1057516308
|
|
NM_000642.3(AGL):c.3544_3551dup (p.Thr1185fs)
|
rs770701389
|
|
NM_000642.3(AGL):c.3549T>G (p.Tyr1183Ter)
|
|
|
NM_000642.3(AGL):c.3588+1G>A
|
|
|
NM_000642.3(AGL):c.3589-3C>G
|
rs1653935585
|
|
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.3697G>T (p.Glu1233Ter)
|
rs375254875
|
|
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs)
|
rs762545015
|
|
NM_000642.3(AGL):c.3707_3714dup (p.Ala1239delinsIleTer)
|
rs752425529
|
|
NM_000642.3(AGL):c.3747dup (p.Gly1250fs)
|
rs1654690647
|
|
NM_000642.3(AGL):c.3756dup (p.Arg1253fs)
|
rs2100849117
|
|
NM_000642.3(AGL):c.3777_3778delinsAC (p.Trp1259_Met1260delinsTer)
|
rs2100849251
|
|
NM_000642.3(AGL):c.378T>A (p.Cys126Ter)
|
rs1553183359
|
|
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter)
|
rs1057517017
|
|
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)
|
rs867341758
|
|
NM_000642.3(AGL):c.382dup (p.Thr128fs)
|
|
|
NM_000642.3(AGL):c.3871A>T (p.Lys1291Ter)
|
|
|
NM_000642.3(AGL):c.388C>T (p.Gln130Ter)
|
|
|
NM_000642.3(AGL):c.3911del (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.3928G>T (p.Glu1310Ter)
|
rs2100854670
|
|
NM_000642.3(AGL):c.4024del (p.Ser1342fs)
|
|
|
NM_000642.3(AGL):c.4027G>T (p.Glu1343Ter)
|
rs112795811
|
|
NM_000642.3(AGL):c.4043T>G (p.Leu1348Ter)
|
rs1654908371
|
|
NM_000642.3(AGL):c.4087A>T (p.Lys1363Ter)
|
rs1654912428
|
|
NM_000642.3(AGL):c.4100del (p.Gly1367fs)
|
rs777120567
|
|
NM_000642.3(AGL):c.410_413del (p.Leu137fs)
|
rs2101087361
|
|
NM_000642.3(AGL):c.4115G>A (p.Trp1372Ter)
|
rs1183383313
|
|
NM_000642.3(AGL):c.4116G>A (p.Trp1372Ter)
|
|
|
NM_000642.3(AGL):c.4161+5G>A
|
|
|
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer)
|
rs1293077915
|
|
NM_000642.3(AGL):c.4176dup (p.Thr1393fs)
|
|
|
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter)
|
rs1344484845
|
|
NM_000642.3(AGL):c.4197del (p.Ala1400fs)
|
rs786204595
|
|
NM_000642.3(AGL):c.420del (p.Phe140fs)
|
rs1406033695
|
|
NM_000642.3(AGL):c.4220_4221del (p.Lys1407fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.4221del (p.Lys1407fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.4250T>A (p.Leu1417Ter)
|
|
|
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
|
|
|
NM_000642.3(AGL):c.4258_4259insGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAAGAAAACTTTAGATCCAG (p.Asp1420fs)
|
rs2100869173
|
|
NM_000642.3(AGL):c.4260-1G>T
|
|
|
NM_000642.3(AGL):c.4270dup (p.Tyr1424fs)
|
rs1655117230
|
|
NM_000642.3(AGL):c.4284T>G (p.Tyr1428Ter)
|
|
|
NM_000642.3(AGL):c.4311C>G (p.Tyr1437Ter)
|
rs760889909
|
|
NM_000642.3(AGL):c.4323del (p.Gly1442fs)
|
rs1057516994
|
|
NM_000642.3(AGL):c.4339C>T (p.Gln1447Ter)
|
|
|
NM_000642.3(AGL):c.4347+1G>A
|
rs1553193463
|
|
NM_000642.3(AGL):c.4347+1G>C
|
rs1553193463
|
|
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter)
|
rs1553193486
|
|
NM_000642.3(AGL):c.4352G>A (p.Trp1451Ter)
|
rs1557794036
|
|
NM_000642.3(AGL):c.4353del (p.Trp1451fs)
|
|
|
NM_000642.3(AGL):c.436dup (p.Arg146fs)
|
|
|
NM_000642.3(AGL):c.4385_4389dup (p.Tyr1464fs)
|
rs1557794150
|
|
NM_000642.3(AGL):c.440_441del (p.Leu147fs)
|
|
|
NM_000642.3(AGL):c.4419dup (p.Thr1474fs)
|
rs2100876312
|
|
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
|
rs1286364615
|
|
NM_000642.3(AGL):c.4456del (p.Ser1486fs)
|
rs113994134
|
|
NM_000642.3(AGL):c.4500del (p.Pro1501fs)
|
|
|
NM_000642.3(AGL):c.4506_4510del (p.Glu1502fs)
|
rs1064795728
|
|
NM_000642.3(AGL):c.4525del (p.Gln1509fs)
|
|
|
NM_000642.3(AGL):c.471del (p.Met157fs)
|
|
|
NM_000642.3(AGL):c.500dup (p.Leu168fs)
|
rs1443902661
|
|
NM_000642.3(AGL):c.525del (p.Ala176fs)
|
rs1571232214
|
|
NM_000642.3(AGL):c.530dup (p.Asn177fs)
|
|
|
NM_000642.3(AGL):c.535_538del (p.Leu179fs)
|
rs794727706
|
|
NM_000642.3(AGL):c.55del (p.Glu19fs)
|
rs1418531169
|
|
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter)
|
rs1571232325
|
|
NM_000642.3(AGL):c.579del (p.Trp194fs)
|
rs2101094012
|
|
NM_000642.3(AGL):c.582del (p.Thr193_Trp194insTer)
|
rs1650336680
|
|
NM_000642.3(AGL):c.609del (p.Lys203fs)
|
rs1571232404
|
|
NM_000642.3(AGL):c.613A>T (p.Lys205Ter)
|
rs562042076
|
|
NM_000642.3(AGL):c.634del (p.Cys212fs)
|
rs1650343836
|
|
NM_000642.3(AGL):c.64del (p.Leu22fs)
|
rs1057517057
|
|
NM_000642.3(AGL):c.654C>A (p.Tyr218Ter)
|
|
|
NM_000642.3(AGL):c.671del (p.Asn224fs)
|
rs2101111970
|
|
NM_000642.3(AGL):c.716dup (p.Asn240fs)
|
rs2101112150
|
|
NM_000642.3(AGL):c.753_756del (p.Asp251fs)
|
rs748789700
|
|
NM_000642.3(AGL):c.795del (p.Lys265fs)
|
|
|
NM_000642.3(AGL):c.808G>T (p.Gly270Ter)
|
|
|
NM_000642.3(AGL):c.825del (p.Ile275fs)
|
rs2101112572
|
|
NM_000642.3(AGL):c.853del (p.Arg285fs)
|
|
|
NM_000642.3(AGL):c.854del (p.Arg285fs)
|
rs1553184620
|
|
NM_000642.3(AGL):c.861_864del (p.Ile288fs)
|
rs1571243699
|
|
NM_000642.3(AGL):c.891dup (p.Leu298fs)
|
rs775335476
|
|
NM_000642.3(AGL):c.894del (p.Trp299fs)
|
|
|
NM_000642.3(AGL):c.939del (p.Phe313fs)
|
rs760589837
|
|
NM_000642.3(AGL):c.955C>T (p.Gln319Ter)
|
rs753488821
|
|
NM_000642.3(AGL):c.958+1G>A
|
rs1553184657
|
|
NM_000642.3(AGL):c.958+1G>T
|
rs1553184657
|
|
NM_000642.3(AGL):c.965_966insTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG
|
|
|
NM_000642.3(AGL):c.966dup (p.Arg323fs)
|
rs35856689
|
|
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)
|
rs757987101
|
|