NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_001164508.2(NEB):c.24114+1G>A
|
rs755239192
|
0.00009
|
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)
|
rs1458048713
|
0.00006
|
NM_001164508.2(NEB):c.21417+3A>G
|
rs148950085
|
0.00004
|
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)
|
rs200731870
|
0.00004
|
NM_001164508.2(NEB):c.21504del (p.Asn7169fs)
|
rs934955715
|
0.00003
|
NM_001164508.2(NEB):c.22800+1G>A
|
rs1302373559
|
0.00003
|
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)
|
rs754272530
|
0.00003
|
NM_001164508.2(NEB):c.24402C>G (p.Tyr8134Ter)
|
rs758277406
|
0.00002
|
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)
|
rs750900690
|
0.00001
|
NM_001164508.2(NEB):c.22144A>C (p.Thr7382Pro)
|
rs761232641
|
0.00001
|
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)
|
rs748922882
|
0.00001
|
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)
|
rs760935667
|
0.00001
|
NM_001164508.2(NEB):c.22591-1G>C
|
rs757157808
|
0.00001
|
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)
|
rs555582398
|
0.00001
|
NM_001164508.2(NEB):c.24172C>T (p.Gln8058Ter)
|
rs1323364980
|
0.00001
|
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs)
|
rs1553552413
|
0.00001
|
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)
|
rs756726488
|
0.00001
|
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)
|
rs1218073575
|
0.00001
|
NM_001164508.2(NEB):c.24300+1G>A
|
rs1366853918
|
0.00001
|
NM_001164508.2(NEB):c.24304_24305dup (p.Leu8102fs)
|
rs1559207733
|
0.00001
|
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)
|
rs1257495033
|
0.00001
|
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs)
|
rs762133567
|
0.00001
|
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)
|
rs555445835
|
0.00001
|
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter)
|
rs758327681
|
0.00001
|
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs)
|
rs1472403020
|
0.00001
|
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter)
|
rs747179265
|
0.00001
|
NM_001164508.2(NEB):c.25266C>A (p.Tyr8422Ter)
|
rs1433028646
|
0.00001
|
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter)
|
rs778104284
|
0.00001
|
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter)
|
rs1553679273
|
|
NM_001164507.2(NEB):c.21375del (p.Arg7126fs)
|
|
|
NM_001164507.2(NEB):c.21406C>T (p.Gln7136Ter)
|
rs2153521056
|
|
NM_001164508.2(NEB):c.21318del (p.Lys7106fs)
|
rs2092318339
|
|
NM_001164508.2(NEB):c.21405dup (p.Met7136fs)
|
rs2153515167
|
|
NM_001164508.2(NEB):c.21426C>A (p.Tyr7142Ter)
|
rs2091275452
|
|
NM_001164508.2(NEB):c.21500_21501del (p.Lys7167fs)
|
|
|
NM_001164508.2(NEB):c.21628_21630+2del
|
rs2153489310
|
|
NM_001164508.2(NEB):c.21711_21712dup (p.Asp7238fs)
|
rs1559580467
|
|
NM_001164508.2(NEB):c.21751C>T (p.Gln7251Ter)
|
rs373946758
|
|
NM_001164508.2(NEB):c.21793del (p.Arg7265fs)
|
|
|
NM_001164508.2(NEB):c.21829C>T (p.Gln7277Ter)
|
rs887471790
|
|
NM_001164508.2(NEB):c.21885_21888del (p.Val7297fs)
|
|
|
NM_001164508.2(NEB):c.21887_21888del (p.Ser7296fs)
|
|
|
NM_001164508.2(NEB):c.21933_21934insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGAATACTTTA (p.Ile7312delinsPhePhePhePhePhePheXaaXaaXaaXaaValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
|
|
NM_001164508.2(NEB):c.21936_21940del (p.Ile7312fs)
|
|
|
NM_001164508.2(NEB):c.21960dup (p.Lys7321fs)
|
|
|
NM_001164508.2(NEB):c.22016del (p.Leu7339fs)
|
rs2153453450
|
|
NM_001164508.2(NEB):c.22030_22031del (p.Val7344fs)
|
|
|
NM_001164508.2(NEB):c.22044_22045del (p.Val7348_Ser7349insTer)
|
rs2153453236
|
|
NM_001164508.2(NEB):c.22138del (p.Glu7380fs)
|
rs1235589246
|
|
NM_001164508.2(NEB):c.22175del (p.Lys7392fs)
|
rs2153447885
|
|
NM_001164508.2(NEB):c.22220del (p.Leu7407fs)
|
|
|
NM_001164508.2(NEB):c.22229del (p.Pro7410fs)
|
|
|
NM_001164508.2(NEB):c.22256_22257delinsG (p.Ala7419fs)
|
rs1559534672
|
|
NM_001164508.2(NEB):c.22276del (p.Ala7426fs)
|
|
|
NM_001164508.2(NEB):c.22312_22315dup (p.Thr7439fs)
|
rs2084217268
|
|
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter)
|
rs1576203853
|
|
NM_001164508.2(NEB):c.22333_22339del (p.Asp7445fs)
|
|
|
NM_001164508.2(NEB):c.22351C>T (p.Gln7451Ter)
|
|
|
NM_001164508.2(NEB):c.22418dup (p.Leu7473fs)
|
rs2084059565
|
|
NM_001164508.2(NEB):c.22477C>T (p.Gln7493Ter)
|
|
|
NM_001164508.2(NEB):c.22479+1G>C
|
rs1057515575
|
|
NM_001164508.2(NEB):c.22479G>C (p.Gln7493His)
|
rs1474341248
|
|
NM_001164508.2(NEB):c.22511del (p.Lys7504fs)
|
rs2080623161
|
|
NM_001164508.2(NEB):c.22597_22601del (p.Tyr7533fs)
|
|
|
NM_001164508.2(NEB):c.22641del (p.Met7547fs)
|
rs1057515573
|
|
NM_001164508.2(NEB):c.22645G>T (p.Glu7549Ter)
|
rs2080077889
|
|
NM_001164508.2(NEB):c.22651_22652del (p.Leu7551fs)
|
rs2153386052
|
|
NM_001164508.2(NEB):c.22652del (p.Leu7551fs)
|
|
|
NM_001164508.2(NEB):c.22708A>T (p.Lys7570Ter)
|
|
|
NM_001164508.2(NEB):c.22711A>T (p.Lys7571Ter)
|
|
|
NM_001164508.2(NEB):c.22728dup (p.Gly7577fs)
|
|
|
NM_001164508.2(NEB):c.22776dup (p.Glu7593fs)
|
rs2079459982
|
|
NM_001164508.2(NEB):c.22792C>T (p.Gln7598Ter)
|
rs752267876
|
|
NM_001164508.2(NEB):c.22792_22793del (p.Gln7598fs)
|
|
|
NM_001164508.2(NEB):c.22812del (p.Glu7605fs)
|
rs2153355216
|
|
NM_001164508.2(NEB):c.22813G>T (p.Glu7605Ter)
|
rs767967099
|
|
NM_001164508.2(NEB):c.22814_22818del (p.Glu7605fs)
|
|
|
NM_001164508.2(NEB):c.22905+1del
|
rs771740564
|
|
NM_001164508.2(NEB):c.22914T>A (p.Tyr7638Ter)
|
|
|
NM_001164508.2(NEB):c.22931del (p.Glu7644fs)
|
|
|
NM_001164508.2(NEB):c.22966del (p.Val7656fs)
|
rs2153320686
|
|
NM_001164508.2(NEB):c.23060del (p.Gly7687fs)
|
|
|
NM_001164508.2(NEB):c.23134_23144del (p.Tyr7712fs)
|
rs2153276539
|
|
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)
|
rs1575714905
|
|
NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)
|
|
|
NM_001164508.2(NEB):c.23175dup (p.Asn7726fs)
|
|
|
NM_001164508.2(NEB):c.23283del (p.Phe7761fs)
|
|
|
NM_001164508.2(NEB):c.23320C>T (p.Gln7774Ter)
|
|
|
NM_001164508.2(NEB):c.23344C>T (p.Gln7782Ter)
|
rs2153272667
|
|
NM_001164508.2(NEB):c.23351dup (p.Tyr7785fs)
|
rs1559360386
|
|
NM_001164508.2(NEB):c.23378del (p.Met7793fs)
|
rs1553603690
|
|
NM_001164508.2(NEB):c.23385T>G (p.Tyr7795Ter)
|
rs2153218155
|
|
NM_001164508.2(NEB):c.23387del (p.Tyr7796fs)
|
|
|
NM_001164508.2(NEB):c.23395_23398dup (p.Leu7800fs)
|
rs1057515574
|
|
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs)
|
rs1553603400
|
|
NM_001164508.2(NEB):c.23449dup (p.Leu7817fs)
|
|
|
NM_001164508.2(NEB):c.23455C>T (p.Gln7819Ter)
|
|
|
NM_001164508.2(NEB):c.23461C>T (p.Gln7821Ter)
|
|
|
NM_001164508.2(NEB):c.23476_23479dup (p.Ser7827fs)
|
|
|
NM_001164508.2(NEB):c.23495_23496del (p.Thr7832fs)
|
|
|
NM_001164508.2(NEB):c.23496_23499del (p.Val7833fs)
|
rs762780413
|
|
NM_001164508.2(NEB):c.23498_23499insA (p.Val7834fs)
|
|
|
NM_001164508.2(NEB):c.23500_23501del (p.Val7834fs)
|
|
|
NM_001164508.2(NEB):c.23505del (p.Asp7836fs)
|
rs2153196376
|
|
NM_001164508.2(NEB):c.23539C>T (p.Gln7847Ter)
|
|
|
NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter)
|
rs537560378
|
|
NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs)
|
rs1161478770
|
|
NM_001164508.2(NEB):c.23660del (p.Lys7887fs)
|
|
|
NM_001164508.2(NEB):c.23711del (p.Arg7904fs)
|
|
|
NM_001164508.2(NEB):c.23746_23747dup (p.Met7916fs)
|
rs2153115303
|
|
NM_001164508.2(NEB):c.23786_23787del (p.Val7929fs)
|
|
|
NM_001164508.2(NEB):c.23786dup (p.Thr7930fs)
|
rs756612643
|
|
NM_001164508.2(NEB):c.23803_23806del (p.Arg7935fs)
|
|
|
NM_001164508.2(NEB):c.23805_23806del (p.Arg7935fs)
|
rs753192734
|
|
NM_001164508.2(NEB):c.23847del (p.Glu7950fs)
|
rs1575305566
|
|
NM_001164508.2(NEB):c.23848_23851dup (p.Asn7951fs)
|
rs1559296376
|
|
NM_001164508.2(NEB):c.23869_23870delinsTA (p.Pro7957Ter)
|
|
|
NM_001164508.2(NEB):c.23878_23881dup (p.Thr7961fs)
|
|
|
NM_001164508.2(NEB):c.23896_23899del (p.Arg7966fs)
|
rs2153102752
|
|
NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs)
|
rs761694639
|
|
NM_001164508.2(NEB):c.23937C>A (p.Tyr7979Ter)
|
|
|
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter)
|
rs779173742
|
|
NM_001164508.2(NEB):c.23939_23942dup (p.Asn7982fs)
|
rs2153073575
|
|
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)
|
rs756384471
|
|
NM_001164508.2(NEB):c.23967dup (p.Pro7990fs)
|
rs2064466448
|
|
NM_001164508.2(NEB):c.23971_23974dup (p.Thr7992fs)
|
|
|
NM_001164508.2(NEB):c.23998_24001del (p.Leu8000fs)
|
rs748550315
|
|
NM_001164508.2(NEB):c.23998_24001dup (p.Asn8001fs)
|
rs748550315
|
|
NM_001164508.2(NEB):c.23998_24002dup (p.Gln8002fs)
|
rs2064439011
|
|
NM_001164508.2(NEB):c.24003_24006dup (p.Glu8003fs)
|
rs1553568447
|
|
NM_001164508.2(NEB):c.24004C>T (p.Gln8002Ter)
|
rs2153072192
|
|
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs)
|
rs1553568357
|
|
NM_001164508.2(NEB):c.24020C>A (p.Ser8007Ter)
|
|
|
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs)
|
rs772009599
|
|
NM_001164508.2(NEB):c.24038del (p.Asn8013fs)
|
|
|
NM_001164508.2(NEB):c.24046A>T (p.Lys8016Ter)
|
|
|
NM_001164508.2(NEB):c.24051del (p.Ile8018fs)
|
rs758105619
|
|
NM_001164508.2(NEB):c.24072dup (p.Glu8025fs)
|
|
|
NM_001164508.2(NEB):c.24077_24084del (p.Met8026fs)
|
rs2153021199
|
|
NM_001164508.2(NEB):c.24084_24085del (p.Arg8028fs)
|
|
|
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs)
|
rs2153020985
|
|
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs)
|
rs1553561211
|
|
NM_001164508.2(NEB):c.24130_24131insGC (p.Asn8044fs)
|
|
|
NM_001164508.2(NEB):c.24143del (p.Gly8048fs)
|
rs1553556154
|
|
NM_001164508.2(NEB):c.24175_24178dup (p.Val8060fs)
|
rs1266535163
|
|
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs)
|
rs2061721973
|
|
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)
|
rs1266535163
|
|
NM_001164508.2(NEB):c.24182_24185dup (p.His8062fs)
|
rs2152991690
|
|
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)
|
rs1553555882
|
|
NM_001164508.2(NEB):c.24206C>A (p.Ser8069Ter)
|
rs1037388276
|
|
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)
|
rs781667543
|
|
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs)
|
rs1553552384
|
|
NM_001164508.2(NEB):c.24213_24214insAA (p.Tyr8072fs)
|
rs1064795894
|
|
NM_001164508.2(NEB):c.24238dup (p.Thr8080fs)
|
rs1575024425
|
|
NM_001164508.2(NEB):c.24245T>A (p.Leu8082Ter)
|
rs1559218052
|
|
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs)
|
rs747564597
|
|
NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs)
|
rs747564597
|
|
NM_001164508.2(NEB):c.24271_24274dup (p.Lys8092fs)
|
rs1559217202
|
|
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs)
|
rs1553551748
|
|
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
|
|
|
NM_001164508.2(NEB):c.24286del (p.Glu8096fs)
|
|
|
NM_001164508.2(NEB):c.24289_24292dup (p.Ile8098fs)
|
rs1553551595
|
|
NM_001164508.2(NEB):c.24291_24294dup (p.Ser8099delinsTyrTer)
|
rs2061157682
|
|
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.24329_24332dup (p.Pro8112fs)
|
rs1574981296
|
|
NM_001164508.2(NEB):c.24335_24338dup (p.Pro8114fs)
|
|
|
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)
|
rs934111355
|
|
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
|
|
|
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs)
|
rs752582527
|
|
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs)
|
rs1553548207
|
|
NM_001164508.2(NEB):c.24370_24374dup (p.Gln8126fs)
|
|
|
NM_001164508.2(NEB):c.24376C>T (p.Gln8126Ter)
|
|
|
NM_001164508.2(NEB):c.24376_24377insCC (p.Gln8126fs)
|
rs2152954992
|
|
NM_001164508.2(NEB):c.24397_24398dup (p.Leu8133fs)
|
rs1553545126
|
|
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)
|
rs763364977
|
|
NM_001164508.2(NEB):c.24461_24464dup (p.His8155fs)
|
rs2152937269
|
|
NM_001164508.2(NEB):c.24469C>T (p.Gln8157Ter)
|
|
|
NM_001164508.2(NEB):c.24477_24480dup (p.Ser8161delinsTyrTer)
|
rs797044606
|
|
NM_001164508.2(NEB):c.24503dup (p.Asn8168fs)
|
rs2152876577
|
|
NM_001164508.2(NEB):c.24510dup (p.Lys8171fs)
|
|
|
NM_001164508.2(NEB):c.24517_24518dup (p.Ala8174fs)
|
rs2152876293
|
|
NM_001164508.2(NEB):c.24521dup (p.Thr8175fs)
|
rs1330332139
|
|
NM_001164508.2(NEB):c.24546del (p.Arg8183fs)
|
|
|
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs)
|
rs755863625
|
|
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs)
|
rs1553537512
|
|
NM_001164508.2(NEB):c.24575dup (p.Ser8192fs)
|
rs2152874815
|
|
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)
|
rs202048855
|
|
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=)
|
rs202048855
|
|
NM_001164508.2(NEB):c.24615_24616insCA (p.Thr8206fs)
|
|
|
NM_001164508.2(NEB):c.24617del (p.Thr8206fs)
|
rs2152863770
|
|
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs)
|
rs1357811155
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|
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer)
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rs794727136
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|
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)
|
rs794727136
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|
NM_001164508.2(NEB):c.24667dup (p.Ser8223fs)
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|
|
NM_001164508.2(NEB):c.24672+1del
|
rs2152861881
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|
NM_001164508.2(NEB):c.24683_24684del (p.Lys8228fs)
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|
|
NM_001164508.2(NEB):c.24687_24688del (p.Asn8230fs)
|
rs1559154278
|
|
NM_001164508.2(NEB):c.24710_24731del (p.Thr8237fs)
|
rs761067911
|
|
NM_001164508.2(NEB):c.24710dup (p.Pro8238fs)
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|
|
NM_001164508.2(NEB):c.24722_24723del (p.Pro8241fs)
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|
|
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)
|
rs776059611
|
|
NM_001164508.2(NEB):c.24766-1G>C
|
rs2152829108
|
|
NM_001164508.2(NEB):c.24798del (p.Gln8267fs)
|
|
|
NM_001164508.2(NEB):c.24816T>G (p.Tyr8272Ter)
|
rs1265163979
|
|
NM_001164508.2(NEB):c.24968_24969insG (p.Asp8323fs)
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|
|
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)
|
rs767709270
|
|
NM_001164508.2(NEB):c.24994_24995dup (p.Gln8333fs)
|
|
|
NM_001164508.2(NEB):c.24996del (p.Gln8333fs)
|
rs1553526884
|
|
NM_001164508.2(NEB):c.25003A>T (p.Lys8335Ter)
|
rs2152821411
|
|
NM_001164508.2(NEB):c.25088C>A (p.Ser8363Ter)
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|
|
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter)
|
rs777232352
|
|
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter)
|
rs760200697
|
|
NM_001164508.2(NEB):c.25165del (p.Arg8389fs)
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|
|
NM_001164508.2(NEB):c.25174G>T (p.Glu8392Ter)
|
rs121913662
|
|
NM_001164508.2(NEB):c.25181C>A (p.Ser8394Ter)
|
rs2055484249
|
|
NM_001164508.2(NEB):c.25209dup (p.Gly8404fs)
|
rs2152777457
|
|
NM_001164508.2(NEB):c.25259C>A (p.Ser8420Ter)
|
rs949111967
|
|
NM_001164508.2(NEB):c.25333C>T (p.Gln8445Ter)
|
rs2152763931
|
|
NM_001164508.2(NEB):c.25426_25429dup (p.Tyr8477Ter)
|
rs2152620357
|
|