NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys)
|
rs202050860
|
0.00021
|
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_001164507.2(NEB):c.21340C>T (p.Arg7114Trp)
|
rs186686151
|
0.00004
|
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215
|
0.00004
|
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.4664G>A (p.Arg1555Lys)
|
rs183333679
|
0.00002
|
NM_001164508.2(NEB):c.7761G>C (p.Arg2587Ser)
|
rs869312958
|
0.00002
|
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys)
|
rs745504838
|
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.19101+5G>A
|
rs374929094
|
0.00001
|
NM_001164508.2(NEB):c.2211+5G>T
|
rs797045736
|
0.00001
|
NM_001164508.2(NEB):c.23279A>G (p.Asn7760Ser)
|
rs1232744915
|
0.00001
|
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu)
|
rs398124169
|
0.00001
|
NM_001164508.2(NEB):c.25429_25430insG (p.Tyr8477Ter)
|
rs1242654062
|
0.00001
|
NM_001164508.2(NEB):c.3255+2dup
|
rs1276026682
|
0.00001
|
NM_001164508.2(NEB):c.5763+5G>A
|
rs776167256
|
0.00001
|
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.11215A>C (p.Lys3739Gln)
|
rs267598922
|
|
NM_001164508.2(NEB):c.11295_11297del (p.Lys3765_Tyr3766delinsAsn)
|
rs1553898232
|
|
NM_001164508.2(NEB):c.153_167del (p.52LAQPA[1])
|
rs757726895
|
|
NM_001164508.2(NEB):c.18510_18515del (p.Gly6171_Tyr6172del)
|
rs1553767010
|
|
NM_001164508.2(NEB):c.18694-6_18694-2del
|
rs1377029367
|
|
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.19518GAA[1] (p.Lys6508del)
|
rs1553736221
|
|
NM_001164508.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup)
|
rs760783104
|
|
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.21010_21012del (p.Glu7004del)
|
rs770208836
|
|
NM_001164508.2(NEB):c.2106+3A>C
|
rs1553589058
|
|
NM_001164508.2(NEB):c.21238_21243del (p.Lys7080_Ser7081del)
|
rs1553683478
|
|
NM_001164508.2(NEB):c.21543CAA[1] (p.Asn7182del)
|
rs758160111
|
|
NM_001164508.2(NEB):c.21946-2del
|
rs1553647715
|
|
NM_001164508.2(NEB):c.22099ACA[1] (p.Thr7368del)
|
rs1553646403
|
|
NM_001164508.2(NEB):c.2211+5G>A
|
rs797045736
|
|
NM_001164508.2(NEB):c.22273-6_22273-2dup
|
rs758609054
|
|
NM_001164508.2(NEB):c.22339AAG[1] (p.Lys7448del)
|
rs1553641943
|
|
NM_001164508.2(NEB):c.22374+13_22374+33dup
|
rs1553641788
|
|
NM_001164508.2(NEB):c.22642_22644del (p.Lys7548del)
|
rs1553629857
|
|
NM_001164508.2(NEB):c.22705AAG[2] (p.Lys7571del)
|
rs760161843
|
|
NM_001164508.2(NEB):c.22905+2dup
|
rs1553623381
|
|
NM_001164508.2(NEB):c.22906-6_22906-2del
|
rs1014710501
|
|
NM_001164508.2(NEB):c.23320CAA[1] (p.Gln7775del)
|
rs1553614214
|
|
NM_001164508.2(NEB):c.23378_23380del (p.Met7793_Ser7794delinsThr)
|
rs1553603652
|
|
NM_001164508.2(NEB):c.23497GTT[1] (p.Val7834del)
|
rs1553601408
|
|
NM_001164508.2(NEB):c.23638_23640del (p.His7880del)
|
rs1553598770
|
|
NM_001164508.2(NEB):c.23848_23850del (p.Glu7950del)
|
rs1553576655
|
|
NM_001164508.2(NEB):c.23872_23874dup (p.Thr7958dup)
|
rs764993333
|
|
NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs)
|
rs761694639
|
|
NM_001164508.2(NEB):c.23929-1_23930dup
|
rs1427250696
|
|
NM_001164508.2(NEB):c.23929-2A>C
|
rs1553569122
|
|
NM_001164508.2(NEB):c.23929-7CA[2]
|
rs1217738625
|
|
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter)
|
rs779173742
|
|
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)
|
rs756384471
|
|
NM_001164508.2(NEB):c.23AGG[1] (p.Glu9del)
|
rs1553711235
|
|
NM_001164508.2(NEB):c.24003_24006del (p.Asn8001fs)
|
rs1553568447
|
|
NM_001164508.2(NEB):c.24012_24014dup (p.Phe8005dup)
|
rs1553568381
|
|
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs)
|
rs1553568357
|
|
NM_001164508.2(NEB):c.2415+2dup
|
rs1553567814
|
|
NM_001164508.2(NEB):c.24210_24212dup (p.Leu8071dup)
|
rs781667543
|
|
NM_001164508.2(NEB):c.24262_24264dup (p.Met8088dup)
|
rs769252768
|
|
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup)
|
rs780724946
|
|
NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.24355_24357dup (p.Met8119dup)
|
rs942843328
|
|
NM_001164508.2(NEB):c.24375_24377dup (p.Asn8125_Gln8126insHis)
|
rs1372551649
|
|
NM_001164508.2(NEB):c.24386_24388dup (p.Ile8129dup)
|
rs767474018
|
|
NM_001164508.2(NEB):c.24472_24474del (p.Glu8158del)
|
rs1553544463
|
|
NM_001164508.2(NEB):c.244A>G (p.Met82Val)
|
rs587780398
|
|
NM_001164508.2(NEB):c.24883_24885del (p.His8295del)
|
rs1553527955
|
|
NM_001164508.2(NEB):c.24954GAA[1] (p.Lys8319del)
|
rs755822172
|
|
NM_001164508.2(NEB):c.25182_25187del (p.Arg8395_Ser8396del)
|
rs1553520388
|
|
NM_001164508.2(NEB):c.25214del (p.Gly8405fs)
|
rs1553520266
|
|
NM_001164508.2(NEB):c.25345_25347del (p.Ser8449del)
|
rs1553519071
|
|
NM_001164508.2(NEB):c.25405-1G>C
|
rs1553508368
|
|
NM_001164508.2(NEB):c.25501G>T (p.Glu8501Ter)
|
rs1304300842
|
|
NM_001164508.2(NEB):c.25508G>A (p.Trp8503Ter)
|
rs1206080778
|
|
NM_001164508.2(NEB):c.25534_25535insTATGCACTGTGCAGAGGACTG (p.Thr8511_Gly8512insValCysThrValGlnArgThr)
|
rs1211056097
|
|
NM_001164508.2(NEB):c.25543G>T (p.Gly8515Ter)
|
rs776932788
|
|
NM_001164508.2(NEB):c.25544del (p.Gly8515fs)
|
rs1205824305
|
|
NM_001164508.2(NEB):c.2875_2877del (p.Cys959del)
|
rs766232587
|
|
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.3352G>T (p.Ala1118Ser)
|
rs1225381477
|
|
NM_001164508.2(NEB):c.3545_3547del (p.Asn1182del)
|
rs1553534580
|
|
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.3759_3773del (p.Lys1254_Asp1258del)
|
rs1553531184
|
|
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.4337G>T (p.Gly1446Val)
|
rs541803470
|
|
NM_001164508.2(NEB):c.4471G>T (p.Val1491Leu)
|
rs7426114
|
|
NM_001164508.2(NEB):c.47AAG[1] (p.Glu17del)
|
rs760256873
|
|
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.54_56dup (p.Val19dup)
|
rs1553702754
|
|
NM_001164508.2(NEB):c.605_607del (p.Phe202_Ser203delinsCys)
|
rs1553687045
|
|
NM_001164508.2(NEB):c.6195_6200del (p.2063KY[1])
|
rs767681176
|
|
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.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.7549_7551del (p.Met2517del)
|
rs1553985641
|
|
NM_001164508.2(NEB):c.834AGA[1] (p.Glu279del)
|
rs1553642771
|
|
NM_001164508.2(NEB):c.8497AAG[1] (p.Lys2834del)
|
rs764523437
|
|
NM_001164508.2(NEB):c.8880_8882del (p.Met2961del)
|
rs1553964000
|
|
NM_001164508.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del)
|
rs1165631470
|
|
NM_001164508.2(NEB):c.9819_9820insAGG (p.Asp3273_Val3274insArg)
|
rs1553934027
|
|
NM_001271208.1(NEB):c.7651_7656del6
|
rs1553983947
|
|
NM_004543.5(NEB):c.18826-1350_18826-1348dup
|
rs1553552449
|
|