NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)
|
rs35740585
|
0.01429
|
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)
|
rs36105240
|
0.00148
|
NM_001164508.2(NEB):c.3879+8G>A
|
rs376511134
|
0.00016
|
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr)
|
rs200270156
|
0.00009
|
NM_001164508.2(NEB):c.1152+5G>A
|
rs111404077
|
0.00009
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)
|
rs375412223
|
0.00006
|
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215
|
0.00004
|
NM_001164508.2(NEB):c.11910+1G>A
|
rs774495973
|
0.00003
|
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641
|
0.00003
|
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)
|
rs769345284
|
0.00003
|
NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys)
|
rs200664592
|
0.00003
|
NM_001164508.2(NEB):c.772G>A (p.Asp258Asn)
|
rs267598926
|
0.00003
|
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)
|
rs776569219
|
0.00002
|
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys)
|
rs183333679
|
0.00002
|
NM_001164508.2(NEB):c.7761G>C (p.Arg2587Ser)
|
rs869312958
|
0.00002
|
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)
|
rs1057517977
|
0.00002
|
NM_001164508.2(NEB):c.11076+1G>A
|
rs1460365350
|
0.00001
|
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)
|
rs928945364
|
0.00001
|
NM_001164508.2(NEB):c.1152+1G>A
|
rs398124167
|
0.00001
|
NM_001164508.2(NEB):c.1153-2A>G
|
rs1553609515
|
0.00001
|
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys)
|
rs745504838
|
0.00001
|
NM_001164508.2(NEB):c.1258-2A>G
|
rs1553608621
|
0.00001
|
NM_001164508.2(NEB):c.1365+2T>C
|
rs770797137
|
0.00001
|
NM_001164508.2(NEB):c.1470+1G>A
|
rs1220787593
|
0.00001
|
NM_001164508.2(NEB):c.1470+2dup
|
rs1477702016
|
0.00001
|
NM_001164508.2(NEB):c.1649_1651del (p.Lys550_Val551delinsIle)
|
rs746163908
|
0.00001
|
NM_001164508.2(NEB):c.1674+1G>T
|
rs750585238
|
0.00001
|
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter)
|
rs1475648900
|
0.00001
|
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)
|
rs539819851
|
0.00001
|
NM_001164508.2(NEB):c.18891+1G>A
|
rs1443738549
|
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.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
NM_001164508.2(NEB):c.20577+2T>C
|
rs1185654671
|
0.00001
|
NM_001164508.2(NEB):c.20787+2T>C
|
rs1337287633
|
0.00001
|
NM_001164508.2(NEB):c.2211+5G>T
|
rs797045736
|
0.00001
|
NM_001164508.2(NEB):c.2415+2T>C
|
rs1057517399
|
0.00001
|
NM_001164508.2(NEB):c.2784del (p.Asp929fs)
|
rs786204430
|
0.00001
|
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)
|
rs1553548666
|
0.00001
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
NM_001164508.2(NEB):c.2943+1G>A
|
rs113091511
|
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.3879+1G>A
|
rs746999970
|
0.00001
|
NM_001164508.2(NEB):c.5344-1G>C
|
rs1197561990
|
0.00001
|
NM_001164508.2(NEB):c.5763+5G>A
|
rs776167256
|
0.00001
|
NM_001164508.2(NEB):c.6076-1G>T
|
rs1553469502
|
0.00001
|
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)
|
rs756363951
|
0.00001
|
NM_001164508.2(NEB):c.7228-1G>A
|
rs1057516996
|
0.00001
|
NM_001164508.2(NEB):c.9414+1G>T
|
rs1255445731
|
0.00001
|
NM_001164508.2(NEB):c.10560+1G>A
|
rs1553915731
|
|
NM_001164508.2(NEB):c.107CAA[1] (p.Thr37del)
|
rs1553698850
|
|
NM_001164508.2(NEB):c.10817_10819del (p.Leu3606del)
|
rs1553911586
|
|
NM_001164508.2(NEB):c.10833CAT[1] (p.Ile3613del)
|
rs773748212
|
|
NM_001164508.2(NEB):c.11181+2T>C
|
rs1553904694
|
|
NM_001164508.2(NEB):c.11215A>C (p.Lys3739Gln)
|
rs267598922
|
|
NM_001164508.2(NEB):c.11289+1G>C
|
rs1553901249
|
|
NM_001164508.2(NEB):c.11295_11297del (p.Lys3765_Tyr3766delinsAsn)
|
rs1553898232
|
|
NM_001164508.2(NEB):c.11602-2A>C
|
rs1553891733
|
|
NM_001164508.2(NEB):c.11909_11910+4del
|
rs1553886582
|
|
NM_001164508.2(NEB):c.1366-2A>G
|
rs1553607505
|
|
NM_001164508.2(NEB):c.153_167del (p.52LAQPA[1])
|
rs757726895
|
|
NM_001164508.2(NEB):c.1570-2A>G
|
rs1553603958
|
|
NM_001164508.2(NEB):c.1570-2_1574del
|
rs1553603933
|
|
NM_001164508.2(NEB):c.1672_1674+2del
|
rs1057516739
|
|
NM_001164508.2(NEB):c.1674+2T>C
|
rs1553603437
|
|
NM_001164508.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer)
|
rs1553601066
|
|
NM_001164508.2(NEB):c.18367-1_18367delinsAA
|
rs1553770178
|
|
NM_001164508.2(NEB):c.18471+1G>C
|
rs1553769576
|
|
NM_001164508.2(NEB):c.18510_18515del (p.Gly6171_Tyr6172del)
|
rs1553767010
|
|
NM_001164508.2(NEB):c.18694-2del
|
rs1553763404
|
|
NM_001164508.2(NEB):c.18694-6_18694-2del
|
rs1377029367
|
|
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter)
|
rs754369875
|
|
NM_001164508.2(NEB):c.18809_18811del (p.Arg6270del)
|
rs1553762776
|
|
NM_001164508.2(NEB):c.18953C>T (p.Pro6318Leu)
|
rs267598920
|
|
NM_001164508.2(NEB):c.1897-1G>A
|
rs1553593177
|
|
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter)
|
rs761964375
|
|
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile)
|
rs191579691
|
|
NM_001164508.2(NEB):c.19102-31_19102-30del
|
rs774225336
|
|
NM_001164508.2(NEB):c.19126_19151del (p.Gln6376fs)
|
rs1553757097
|
|
NM_001164508.2(NEB):c.19207-1G>A
|
rs1553755829
|
|
NM_001164508.2(NEB):c.19836+1G>T
|
rs1446930968
|
|
NM_001164508.2(NEB):c.20157+2T>C
|
rs1553717306
|
|
NM_001164508.2(NEB):c.20158-1G>C
|
rs1553715579
|
|
NM_001164508.2(NEB):c.20390_20412del (p.Gln6797fs)
|
rs1553710982
|
|
NM_001164508.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup)
|
rs760783104
|
|
NM_001164508.2(NEB):c.20467-1G>T
|
rs760082702
|
|
NM_001164508.2(NEB):c.20514C>A (p.Tyr6838Ter)
|
rs1242775893
|
|
NM_001164508.2(NEB):c.20721TCA[1] (p.His6909del)
|
rs1553696713
|
|
NM_001164508.2(NEB):c.20763_20774del (p.Lys6921_Asp6925delinsAsn)
|
rs1553696371
|
|
NM_001164508.2(NEB):c.20788-1G>A
|
rs1553695557
|
|
NM_001164508.2(NEB):c.20845dup (p.Thr6949fs)
|
rs1553695209
|
|
NM_001164508.2(NEB):c.20889dup (p.Asp6964Ter)
|
rs1553694860
|
|
NM_001164508.2(NEB):c.21010_21012del (p.Glu7004del)
|
rs770208836
|
|
NM_001164508.2(NEB):c.2106+3A>C
|
rs1553589058
|
|
NM_001164508.2(NEB):c.21093_21094del (p.Val7032fs)
|
rs1553688242
|
|
NM_001164508.2(NEB):c.21238_21243del (p.Lys7080_Ser7081del)
|
rs1553683478
|
|
NM_001164508.2(NEB):c.21312+1G>A
|
rs1553682994
|
|
NM_001164508.2(NEB):c.2211+1G>A
|
rs1553586486
|
|
NM_001164508.2(NEB):c.2211+5G>A
|
rs797045736
|
|
NM_001164508.2(NEB):c.2212-2A>G
|
rs1553580540
|
|
NM_001164508.2(NEB):c.2310+2T>A
|
rs1553579092
|
|
NM_001164508.2(NEB):c.2385del (p.Gln795fs)
|
rs1553568167
|
|
NM_001164508.2(NEB):c.2391_2392del (p.Arg797fs)
|
rs1057516938
|
|
NM_001164508.2(NEB):c.23AGG[1] (p.Glu9del)
|
rs1553711235
|
|
NM_001164508.2(NEB):c.2415+2dup
|
rs1553567814
|
|
NM_001164508.2(NEB):c.2416-1G>C
|
rs1553565278
|
|
NM_001164508.2(NEB):c.244A>G (p.Met82Val)
|
rs587780398
|
|
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter)
|
rs1553558398
|
|
NM_001164508.2(NEB):c.2751del (p.Asp916_Tyr917insTer)
|
rs1553557405
|
|
NM_001164508.2(NEB):c.2875_2877del (p.Cys959del)
|
rs766232587
|
|
NM_001164508.2(NEB):c.2944-1G>A
|
rs1553542669
|
|
NM_001164508.2(NEB):c.295-1G>T
|
rs111300270
|
|
NM_001164508.2(NEB):c.3147+1del
|
rs1553539777
|
|
NM_001164508.2(NEB):c.3218_3226dup (p.Ala1075_Ala1076insValArgAla)
|
rs1553539039
|
|
NM_001164508.2(NEB):c.3221_3229dup (p.Arg1074_Ala1076dup)
|
rs1553539015
|
|
NM_001164508.2(NEB):c.3255+1G>C
|
rs375628303
|
|
NM_001164508.2(NEB):c.3255+1G>T
|
rs375628303
|
|
NM_001164508.2(NEB):c.3255+1del
|
rs1553538835
|
|
NM_001164508.2(NEB):c.3352G>T (p.Ala1118Ser)
|
rs1225381477
|
|
NM_001164508.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer)
|
rs1159756073
|
|
NM_001164508.2(NEB):c.3545_3547del (p.Asn1182del)
|
rs1553534580
|
|
NM_001164508.2(NEB):c.3567+1G>C
|
rs587780399
|
|
NM_001164508.2(NEB):c.3567+3_3567+6del
|
rs1553534336
|
|
NM_001164508.2(NEB):c.3676AAG[1] (p.Lys1227del)
|
rs1553532187
|
|
NM_001164508.2(NEB):c.37-1G>C
|
rs1428597732
|
|
NM_001164508.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del)
|
rs1553531184
|
|
NM_001164508.2(NEB):c.3774+2T>C
|
rs1553531049
|
|
NM_001164508.2(NEB):c.3795AGA[1] (p.Glu1266del)
|
rs1553522046
|
|
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly)
|
rs1553521537
|
|
NM_001164508.2(NEB):c.3880-1G>T
|
rs1057516381
|
|
NM_001164508.2(NEB):c.3880-2A>G
|
rs1342507012
|
|
NM_001164508.2(NEB):c.3987+1G>A
|
rs780022652
|
|
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG
|
rs786204576
|
|
NM_001164508.2(NEB):c.3988-1G>A
|
rs1553517128
|
|
NM_001164508.2(NEB):c.403-6_405del
|
rs1553689774
|
|
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)
|
rs1057517360
|
|
NM_001164508.2(NEB):c.4300-2A>C
|
rs1553512813
|
|
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val)
|
rs541803470
|
|
NM_001164508.2(NEB):c.4471G>T (p.Val1491Leu)
|
rs7426114
|
|
NM_001164508.2(NEB):c.4506+1G>A
|
rs112517981
|
|
NM_001164508.2(NEB):c.4719+2T>C
|
rs1553501889
|
|
NM_001164508.2(NEB):c.47AAG[1] (p.Glu17del)
|
rs760256873
|
|
NM_001164508.2(NEB):c.5031+1G>A
|
rs1553495140
|
|
NM_001164508.2(NEB):c.507+1G>A
|
rs1553689057
|
|
NM_001164508.2(NEB):c.5140AAG[1] (p.Lys1715del)
|
rs1553492424
|
|
NM_001164508.2(NEB):c.5170_5172del (p.Lys1724del)
|
rs1553492107
|
|
NM_001164508.2(NEB):c.5344-1G>A
|
rs1197561990
|
|
NM_001164508.2(NEB):c.5451+2_5451+11del
|
rs1553487838
|
|
NM_001164508.2(NEB):c.5452-2A>G
|
rs1057517317
|
|
NM_001164508.2(NEB):c.54_56dup (p.Val19dup)
|
rs1553702754
|
|
NM_001164508.2(NEB):c.605_607del (p.Phe202_Ser203delinsCys)
|
rs1553687045
|
|
NM_001164508.2(NEB):c.6075+1G>A
|
rs1553472127
|
|
NM_001164508.2(NEB):c.6078del (p.Lys2026fs)
|
rs1057516758
|
|
NM_001164508.2(NEB):c.613-1G>C
|
rs767693366
|
|
NM_001164508.2(NEB):c.613-2A>G
|
rs752893483
|
|
NM_001164508.2(NEB):c.6183+1G>A
|
rs557870969
|
|
NM_001164508.2(NEB):c.6183+1del
|
rs1553468960
|
|
NM_001164508.2(NEB):c.6183+2T>A
|
rs1553468939
|
|
NM_001164508.2(NEB):c.6195_6200del (p.2063KY[1])
|
rs767681176
|
|
NM_001164508.2(NEB):c.6507G>A (p.Lys2169=)
|
rs267598923
|
|
NM_001164508.2(NEB):c.6598A>G (p.Ser2200Gly)
|
rs1553462412
|
|
NM_001164508.2(NEB):c.6799_6804del (p.Tyr2267_Ser2268del)
|
rs1209177139
|
|
NM_001164508.2(NEB):c.6808-2A>T
|
rs1553457607
|
|
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer)
|
rs1180339426
|
|
NM_001164508.2(NEB):c.6956_6967del (p.His2319_Phe2322del)
|
rs1553449735
|
|
NM_001164508.2(NEB):c.7120_7122dup (p.Glu2374dup)
|
rs1553449134
|
|
NM_001164508.2(NEB):c.7135_7140del (p.Val2379_Asp2380del)
|
rs1326831435
|
|
NM_001164508.2(NEB):c.7227+2T>C
|
rs1553448527
|
|
NM_001164508.2(NEB):c.7266_7268delinsTC (p.Gly2423fs)
|
rs1057516348
|
|
NM_001164508.2(NEB):c.7432-2A>G
|
rs1553990438
|
|
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs)
|
rs878854368
|
|
NM_001164508.2(NEB):c.7549_7551del (p.Met2517del)
|
rs1553985641
|
|
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter)
|
rs1373493309
|
|
NM_001164508.2(NEB):c.7728_7729delinsA (p.Trp2576_Ser2577delinsTer)
|
rs1553983416
|
|
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)
|
rs398124172
|
|
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter)
|
rs1057516676
|
|
NM_001164508.2(NEB):c.823-2A>G
|
rs1553642811
|
|
NM_001164508.2(NEB):c.834AGA[1] (p.Glu279del)
|
rs1553642771
|
|
NM_001164508.2(NEB):c.8374-1G>A
|
rs1180407562
|
|
NM_001164508.2(NEB):c.8392_8395dup (p.Arg2799fs)
|
rs765403861
|
|
NM_001164508.2(NEB):c.8497AAG[1] (p.Lys2834del)
|
rs764523437
|
|
NM_001164508.2(NEB):c.8860del (p.Ala2954fs)
|
rs1553964158
|
|
NM_001164508.2(NEB):c.8880_8882del (p.Met2961del)
|
rs1553964000
|
|
NM_001164508.2(NEB):c.8887A>T (p.Lys2963Ter)
|
rs1553963973
|
|
NM_001164508.2(NEB):c.8889+1G>A
|
rs1553963960
|
|
NM_001164508.2(NEB):c.8994+2T>C
|
rs1553962493
|
|
NM_001164508.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del)
|
rs1165631470
|
|
NM_001164508.2(NEB):c.9102+1G>A
|
rs143644938
|
|
NM_001164508.2(NEB):c.9108del (p.Lys3036fs)
|
rs1553948395
|
|
NM_001164508.2(NEB):c.9246G>A (p.Trp3082Ter)
|
rs1553947423
|
|
NM_001164508.2(NEB):c.927+1G>A
|
rs374562457
|
|
NM_001164508.2(NEB):c.9346G>T (p.Glu3116Ter)
|
rs193042896
|
|
NM_001164508.2(NEB):c.9363T>G (p.Pro3121=)
|
rs6709886
|
|
NM_001164508.2(NEB):c.9414+1G>A
|
rs1255445731
|
|
NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter)
|
rs1553939806
|
|
NM_001164508.2(NEB):c.9440G>A (p.Trp3147Ter)
|
rs1553939774
|
|
NM_001164508.2(NEB):c.9457dup (p.Trp3153fs)
|
rs1553939660
|
|
NM_001164508.2(NEB):c.9459G>A (p.Trp3153Ter)
|
rs1553939648
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
NM_001164508.2(NEB):c.9485del (p.Val3162fs)
|
rs1553939284
|
|
NM_001164508.2(NEB):c.9576del (p.Glu3193fs)
|
rs1553938571
|
|
NM_001164508.2(NEB):c.9619-1G>A
|
rs1390379576
|
|
NM_001164508.2(NEB):c.9724-1G>A
|
rs1553934586
|
|
NM_001164508.2(NEB):c.9724-2A>G
|
rs1553934597
|
|
NM_001164508.2(NEB):c.9819_9820insAGG (p.Asp3273_Val3274insArg)
|
rs1553934027
|
|
NM_001164508.2(NEB):c.9831+1G>A
|
rs1553933986
|
|
NM_001164508.2(NEB):c.9943del (p.Asp3315fs)
|
rs1553930053
|
|
NM_001271208.1(NEB):c.21103delG
|
rs1553686994
|
|
NM_001271208.1(NEB):c.7651_7656del6
|
rs1553983947
|
|