NM_001164508.2(NEB):c.18472-1G>C
|
rs1203257517
|
0.00003
|
NM_001164508.2(NEB):c.19836+1G>A
|
rs1446930968
|
0.00003
|
NM_001164508.2(NEB):c.11076+1G>A
|
rs1460365350
|
0.00001
|
NM_001164508.2(NEB):c.1153-2A>G
|
rs1553609515
|
0.00001
|
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter)
|
rs377182240
|
0.00001
|
NM_001164508.2(NEB):c.12330+2T>C
|
rs1374971806
|
0.00001
|
NM_001164508.2(NEB):c.1258-2A>G
|
rs1553608621
|
0.00001
|
NM_001164508.2(NEB):c.12639+2dup
|
rs2097758186
|
0.00001
|
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs)
|
rs1490309743
|
0.00001
|
NM_001164508.2(NEB):c.1470+2dup
|
rs1477702016
|
0.00001
|
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)
|
rs1255744452
|
0.00001
|
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)
|
rs539819851
|
0.00001
|
NM_001164508.2(NEB):c.19101+5G>A
|
rs374929094
|
0.00001
|
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter)
|
rs1553740233
|
0.00001
|
NM_001164508.2(NEB):c.295-2A>G
|
rs1428300892
|
0.00001
|
NM_001164508.2(NEB):c.3255+2dup
|
rs1276026682
|
0.00001
|
NM_001164508.2(NEB):c.37-1G>A
|
rs1428597732
|
0.00001
|
NM_001164508.2(NEB):c.5344-1G>C
|
rs1197561990
|
0.00001
|
NM_001164508.2(NEB):c.580C>T (p.Gln194Ter)
|
rs1032240985
|
0.00001
|
NM_001164508.2(NEB):c.6076-1G>T
|
rs1553469502
|
0.00001
|
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)
|
rs750548574
|
0.00001
|
NM_001164508.2(NEB):c.9414+1G>T
|
rs1255445731
|
0.00001
|
NM_001164508.2(NEB):c.10059C>A (p.Tyr3353Ter)
|
|
|
NM_001164508.2(NEB):c.10144-2A>G
|
rs1435980710
|
|
NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter)
|
|
|
NM_001164508.2(NEB):c.1036-1G>A
|
|
|
NM_001164508.2(NEB):c.10477G>T (p.Glu3493Ter)
|
|
|
NM_001164508.2(NEB):c.10560+1G>C
|
|
|
NM_001164508.2(NEB):c.1057G>T (p.Glu353Ter)
|
|
|
NM_001164508.2(NEB):c.10653_10654dup (p.Ile3552fs)
|
|
|
NM_001164508.2(NEB):c.1069G>T (p.Gly357Ter)
|
|
|
NM_001164508.2(NEB):c.10898G>A (p.Trp3633Ter)
|
|
|
NM_001164508.2(NEB):c.11024dup (p.Asp3676fs)
|
rs1560500587
|
|
NM_001164508.2(NEB):c.11118del (p.His3707fs)
|
|
|
NM_001164508.2(NEB):c.11393del (p.Ile3798fs)
|
|
|
NM_001164508.2(NEB):c.1153-1_1153del
|
|
|
NM_001164508.2(NEB):c.11665G>T (p.Glu3889Ter)
|
|
|
NM_001164508.2(NEB):c.11911-2A>G
|
|
|
NM_001164508.2(NEB):c.12055_12058dup (p.His4020fs)
|
|
|
NM_001164508.2(NEB):c.12065del (p.Gly4022fs)
|
|
|
NM_001164508.2(NEB):c.12182del (p.Pro4061fs)
|
rs2097886912
|
|
NM_001164508.2(NEB):c.12220C>T (p.Gln4074Ter)
|
|
|
NM_001164508.2(NEB):c.12221dup (p.Thr4075fs)
|
rs1553883480
|
|
NM_001164508.2(NEB):c.12330+5G>A
|
rs763163879
|
|
NM_001164508.2(NEB):c.1258A>T (p.Lys420Ter)
|
|
|
NM_001164508.2(NEB):c.1264del (p.Tyr422fs)
|
|
|
NM_001164508.2(NEB):c.12808C>T (p.Gln4270Ter)
|
|
|
NM_001164508.2(NEB):c.1280T>A (p.Leu427Ter)
|
|
|
NM_001164508.2(NEB):c.12853C>T (p.Gln4285Ter)
|
|
|
NM_001164508.2(NEB):c.13076_13085del (p.Asp4359fs)
|
|
|
NM_001164508.2(NEB):c.13099G>T (p.Gly4367Ter)
|
rs1278785558
|
|
NM_001164508.2(NEB):c.13115dup (p.Ser4373fs)
|
|
|
NM_001164508.2(NEB):c.13173T>A (p.Tyr4391Ter)
|
rs2153930733
|
|
NM_001164508.2(NEB):c.13252C>T (p.Gln4418Ter)
|
|
|
NM_001164508.2(NEB):c.133_146del (p.Ser45fs)
|
rs1321522421
|
|
NM_001164508.2(NEB):c.1365+1G>A
|
|
|
NM_001164508.2(NEB):c.1395_1398dup (p.Gly467fs)
|
|
|
NM_001164508.2(NEB):c.14741G>A (p.Trp4914Ter)
|
|
|
NM_001164508.2(NEB):c.14786del (p.Leu4929fs)
|
|
|
NM_001164508.2(NEB):c.14794C>T (p.Gln4932Ter)
|
|
|
NM_001164508.2(NEB):c.14817dup (p.Ile4940fs)
|
|
|
NM_001164508.2(NEB):c.14871T>A (p.Tyr4957Ter)
|
|
|
NM_001164508.2(NEB):c.1517_1518del (p.Thr506fs)
|
|
|
NM_001164508.2(NEB):c.1526del (p.Pro509fs)
|
rs1181351466
|
|
NM_001164508.2(NEB):c.16252C>T (p.Gln5418Ter)
|
|
|
NM_001164508.2(NEB):c.16273C>T (p.Gln5425Ter)
|
rs1064796311
|
|
NM_001164508.2(NEB):c.16463del (p.Pro5488fs)
|
|
|
NM_001164508.2(NEB):c.16467dup (p.Leu5490fs)
|
|
|
NM_001164508.2(NEB):c.1674+1G>A
|
rs750585238
|
|
NM_001164508.2(NEB):c.1674+2T>C
|
rs1553603437
|
|
NM_001164508.2(NEB):c.16756C>T (p.Gln5586Ter)
|
|
|
NM_001164508.2(NEB):c.168_171dup (p.Ala58fs)
|
|
|
NM_001164508.2(NEB):c.17310del (p.Asn5772fs)
|
|
|
NM_001164508.2(NEB):c.17362C>T (p.Gln5788Ter)
|
|
|
NM_001164508.2(NEB):c.17456G>A (p.Trp5819Ter)
|
|
|
NM_001164508.2(NEB):c.17737-1G>A
|
|
|
NM_001164508.2(NEB):c.17756G>A (p.Trp5919Ter)
|
|
|
NM_001164508.2(NEB):c.18157-2A>G
|
rs925947627
|
|
NM_001164508.2(NEB):c.18290_18294delinsGTATAC (p.Asn6097fs)
|
|
|
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs)
|
rs747282057
|
|
NM_001164508.2(NEB):c.18585dup (p.Tyr6196fs)
|
|
|
NM_001164508.2(NEB):c.1871T>A (p.Leu624Ter)
|
|
|
NM_001164508.2(NEB):c.18751dup (p.Met6251fs)
|
|
|
NM_001164508.2(NEB):c.18884dup (p.Leu6295fs)
|
|
|
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter)
|
rs1559940778
|
|
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)
|
rs2153702280
|
|
NM_001164508.2(NEB):c.1921A>T (p.Lys641Ter)
|
|
|
NM_001164508.2(NEB):c.19294C>T (p.Gln6432Ter)
|
rs2153700128
|
|
NM_001164508.2(NEB):c.19851T>A (p.Tyr6617Ter)
|
rs2095359371
|
|
NM_001164508.2(NEB):c.20213dup (p.Asp6738fs)
|
|
|
NM_001164508.2(NEB):c.20290del (p.Met6764fs)
|
|
|
NM_001164508.2(NEB):c.20320_20323del (p.Thr6774fs)
|
|
|
NM_001164508.2(NEB):c.20441_20445dup (p.Arg6816fs)
|
|
|
NM_001164508.2(NEB):c.20551C>T (p.Gln6851Ter)
|
|
|
NM_001164508.2(NEB):c.20578-1G>C
|
|
|
NM_001164508.2(NEB):c.20659dup (p.Arg6887fs)
|
|
|
NM_001164508.2(NEB):c.2075_2076del (p.His692fs)
|
rs2149163148
|
|
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
|
|
|
NM_001164508.2(NEB):c.21092_21093del (p.Thr7031fs)
|
|
|
NM_001164508.2(NEB):c.21153del (p.Tyr7052fs)
|
|
|
NM_001164508.2(NEB):c.21220G>T (p.Glu7074Ter)
|
|
|
NM_001164508.2(NEB):c.2178T>G (p.Tyr726Ter)
|
|
|
NM_001164508.2(NEB):c.2204_2205del (p.Gln734_Cys735insTer)
|
|
|
NM_001164508.2(NEB):c.2211+5G>A
|
rs797045736
|
|
NM_001164508.2(NEB):c.2212-1G>A
|
rs2149103521
|
|
NM_001164508.2(NEB):c.2328del (p.Lys776fs)
|
|
|
NM_001164508.2(NEB):c.2424_2425del (p.Tyr808_Lys809delinsTer)
|
|
|
NM_001164508.2(NEB):c.2647C>T (p.Arg883Ter)
|
rs1333519240
|
|
NM_001164508.2(NEB):c.2783dup (p.Pro928_Asp929insTer)
|
|
|
NM_001164508.2(NEB):c.288_290delinsAA (p.Phe96fs)
|
|
|
NM_001164508.2(NEB):c.3042+2T>G
|
|
|
NM_001164508.2(NEB):c.3123del (p.Val1042fs)
|
|
|
NM_001164508.2(NEB):c.3184A>T (p.Lys1062Ter)
|
|
|
NM_001164508.2(NEB):c.3384del (p.Asp1129fs)
|
rs2099386045
|
|
NM_001164508.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer)
|
rs1159756073
|
|
NM_001164508.2(NEB):c.3390T>G (p.Tyr1130Ter)
|
|
|
NM_001164508.2(NEB):c.3537_3540del (p.Ser1180fs)
|
|
|
NM_001164508.2(NEB):c.3541A>T (p.Lys1181Ter)
|
|
|
NM_001164508.2(NEB):c.3567+1G>A
|
rs587780399
|
|
NM_001164508.2(NEB):c.3567+1G>C
|
rs587780399
|
|
NM_001164508.2(NEB):c.3601A>T (p.Lys1201Ter)
|
rs748453057
|
|
NM_001164508.2(NEB):c.3691del (p.His1231fs)
|
|
|
NM_001164508.2(NEB):c.3908dup (p.Leu1303fs)
|
|
|
NM_001164508.2(NEB):c.4022_4023dup (p.Lys1342fs)
|
|
|
NM_001164508.2(NEB):c.403-2A>G
|
|
|
NM_001164508.2(NEB):c.403-6_405del
|
rs1553689774
|
|
NM_001164508.2(NEB):c.4048C>T (p.Gln1350Ter)
|
|
|
NM_001164508.2(NEB):c.4300-1G>C
|
|
|
NM_001164508.2(NEB):c.4346_4355del (p.Trp1449fs)
|
|
|
NM_001164508.2(NEB):c.4356del (p.Ile1452fs)
|
|
|
NM_001164508.2(NEB):c.4379del (p.Val1460fs)
|
|
|
NM_001164508.2(NEB):c.4506+1G>A
|
rs112517981
|
|
NM_001164508.2(NEB):c.4623del (p.Ala1542fs)
|
rs1559039815
|
|
NM_001164508.2(NEB):c.4842C>G (p.Tyr1614Ter)
|
rs2154179061
|
|
NM_001164508.2(NEB):c.4918_4922del (p.Ser1640fs)
|
|
|
NM_001164508.2(NEB):c.496_499del (p.Gln166fs)
|
rs1340063197
|
|
NM_001164508.2(NEB):c.5136_5139del (p.Ser1712fs)
|
|
|
NM_001164508.2(NEB):c.5229dup (p.Met1744fs)
|
rs2154176971
|
|
NM_001164508.2(NEB):c.528G>A (p.Trp176Ter)
|
|
|
NM_001164508.2(NEB):c.5292del (p.Asp1765fs)
|
|
|
NM_001164508.2(NEB):c.5364G>A (p.Trp1788Ter)
|
rs201636991
|
|
NM_001164508.2(NEB):c.5422_5424delinsCT (p.Ala1808fs)
|
|
|
NM_001164508.2(NEB):c.5451+1G>A
|
|
|
NM_001164508.2(NEB):c.5457_5459delinsT (p.Lys1819fs)
|
|
|
NM_001164508.2(NEB):c.5523_5527del (p.Lys1842fs)
|
rs2154172729
|
|
NM_001164508.2(NEB):c.5741dup (p.Asn1914fs)
|
|
|
NM_001164508.2(NEB):c.5907T>G (p.Tyr1969Ter)
|
|
|
NM_001164508.2(NEB):c.5976_5977dup (p.Tyr1993fs)
|
|
|
NM_001164508.2(NEB):c.5999dup (p.Asp2000fs)
|
|
|
NM_001164508.2(NEB):c.613-1G>A
|
rs767693366
|
|
NM_001164508.2(NEB):c.6365del (p.Val2122fs)
|
|
|
NM_001164508.2(NEB):c.6634C>T (p.Gln2212Ter)
|
|
|
NM_001164508.2(NEB):c.6690_6700del (p.His2230fs)
|
|
|
NM_001164508.2(NEB):c.6747del (p.His2249fs)
|
|
|
NM_001164508.2(NEB):c.6752_6753insATCA (p.Met2251fs)
|
|
|
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer)
|
rs1180339426
|
|
NM_001164508.2(NEB):c.6818_6819dup (p.Leu2274fs)
|
|
|
NM_001164508.2(NEB):c.6824del (p.Gly2275fs)
|
rs2099060040
|
|
NM_001164508.2(NEB):c.6947_6954del (p.Leu2316fs)
|
|
|
NM_001164508.2(NEB):c.6993del (p.Val2332fs)
|
rs2099021112
|
|
NM_001164508.2(NEB):c.7093G>T (p.Gly2365Ter)
|
|
|
NM_001164508.2(NEB):c.717+1G>A
|
rs1577833924
|
|
NM_001164508.2(NEB):c.7227+1G>A
|
|
|
NM_001164508.2(NEB):c.7543dup (p.Tyr2515fs)
|
|
|
NM_001164508.2(NEB):c.7546C>T (p.Arg2516Ter)
|
|
|
NM_001164508.2(NEB):c.7551_7558del (p.Met2517fs)
|
|
|
NM_001164508.2(NEB):c.771del (p.Asp258fs)
|
|
|
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys)
|
rs1389374032
|
|
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter)
|
rs1057516676
|
|
NM_001164508.2(NEB):c.8276dup (p.Leu2760fs)
|
|
|
NM_001164508.2(NEB):c.8293del (p.Ala2765fs)
|
|
|
NM_001164508.2(NEB):c.8422del (p.Ala2808fs)
|
|
|
NM_001164508.2(NEB):c.843T>G (p.Tyr281Ter)
|
|
|
NM_001164508.2(NEB):c.8445dup (p.Lys2816fs)
|
|
|
NM_001164508.2(NEB):c.8516G>A (p.Trp2839Ter)
|
|
|
NM_001164508.2(NEB):c.8728del (p.Trp2910fs)
|
|
|
NM_001164508.2(NEB):c.8889+1G>A
|
rs1553963960
|
|
NM_001164508.2(NEB):c.934del (p.Tyr312fs)
|
rs2150020225
|
|
NM_001164508.2(NEB):c.935dup (p.Tyr312Ter)
|
|
|
NM_001164508.2(NEB):c.936C>G (p.Tyr312Ter)
|
|
|
NM_001164508.2(NEB):c.9414+1G>A
|
rs1255445731
|
|
NM_001164508.2(NEB):c.9441G>A (p.Trp3147Ter)
|
|
|
NM_001164508.2(NEB):c.9449del (p.Gly3150fs)
|
|
|
NM_001164508.2(NEB):c.9709del (p.Ile3237fs)
|
|
|
NM_001164508.2(NEB):c.9779del (p.Ser3260fs)
|
|
|
NM_001271208.1(NEB):c.7291G>A
|
rs767302772
|
|