NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_001164508.2(NEB):c.22590+2T>C
|
rs200449517
|
0.00009
|
NM_001164508.2(NEB):c.24114+1G>A
|
rs755239192
|
0.00009
|
NM_001164508.2(NEB):c.23742+2T>C
|
rs545937015
|
0.00006
|
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)
|
rs1458048713
|
0.00006
|
NM_001164508.2(NEB):c.23510C>T (p.Thr7837Met)
|
rs370108917
|
0.00005
|
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)
|
rs200731870
|
0.00004
|
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.21313-2A>T
|
rs1212081578
|
0.00001
|
NM_001164508.2(NEB):c.21736-13_21743del
|
rs767772838
|
0.00001
|
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)
|
rs750900690
|
0.00001
|
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)
|
rs748922882
|
0.00001
|
NM_001164508.2(NEB):c.22375-1G>A
|
rs949331605
|
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.22696-1G>A
|
rs745511810
|
0.00001
|
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)
|
rs555582398
|
0.00001
|
NM_001164508.2(NEB):c.22905+2T>C
|
rs1553623367
|
0.00001
|
NM_001164508.2(NEB):c.23016+1G>A
|
rs111833078
|
0.00001
|
NM_001164508.2(NEB):c.23127+2T>C
|
rs112610938
|
0.00001
|
NM_001164508.2(NEB):c.23451+1G>T
|
rs1011425121
|
0.00001
|
NM_001164508.2(NEB):c.24022-1G>C
|
rs1553561697
|
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.24353_24356dup (p.Met8119fs)
|
rs1257495033
|
0.00001
|
NM_001164508.2(NEB):c.24393+1G>A
|
rs775631800
|
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_001164508.2(NEB):c.25404+1_25404+2insATGGA
|
rs1357452519
|
0.00001
|
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter)
|
rs1553679273
|
|
NM_001164507.2(NEB):c.21358del (p.Leu7120fs)
|
rs1553678967
|
|
NM_001164507.2(NEB):c.21417+1G>A
|
|
|
NM_001164508.2(NEB):c.21313-1G>C
|
rs2153515796
|
|
NM_001164508.2(NEB):c.21417+1G>A
|
rs2153515061
|
|
NM_001164508.2(NEB):c.21418-1G>A
|
rs2153501801
|
|
NM_001164508.2(NEB):c.21523-1G>T
|
|
|
NM_001164508.2(NEB):c.21538del (p.Glu7180fs)
|
|
|
NM_001164508.2(NEB):c.21624_21625insTTATACTTGACACCATG (p.Ser7209delinsLeuTyrLeuThrProTer)
|
|
|
NM_001164508.2(NEB):c.21630+1G>A
|
rs1446706909
|
|
NM_001164508.2(NEB):c.21630+2T>C
|
|
|
NM_001164508.2(NEB):c.21634A>T (p.Lys7212Ter)
|
|
|
NM_001164508.2(NEB):c.21714dup (p.Ala7239fs)
|
|
|
NM_001164508.2(NEB):c.21735+1G>C
|
rs2153475495
|
|
NM_001164508.2(NEB):c.21736-1G>T
|
|
|
NM_001164508.2(NEB):c.21736-2A>G
|
rs1389892619
|
|
NM_001164508.2(NEB):c.21744T>A (p.Tyr7248Ter)
|
|
|
NM_001164508.2(NEB):c.21817A>T (p.Lys7273Ter)
|
|
|
NM_001164508.2(NEB):c.21945+1G>A
|
|
|
NM_001164508.2(NEB):c.21945+1G>C
|
rs2153458564
|
|
NM_001164508.2(NEB):c.21957_21963del (p.Lys7319fs)
|
|
|
NM_001164508.2(NEB):c.22009C>T (p.Gln7337Ter)
|
|
|
NM_001164508.2(NEB):c.22048G>T (p.Glu7350Ter)
|
|
|
NM_001164508.2(NEB):c.22051-2A>C
|
|
|
NM_001164508.2(NEB):c.22087C>T (p.Gln7363Ter)
|
rs1553646540
|
|
NM_001164508.2(NEB):c.22091del (p.Gly7364fs)
|
rs2153452355
|
|
NM_001164508.2(NEB):c.22099del (p.Thr7367fs)
|
|
|
NM_001164508.2(NEB):c.22138del (p.Glu7380fs)
|
rs1235589246
|
|
NM_001164508.2(NEB):c.22142_22143del (p.Val7381fs)
|
|
|
NM_001164508.2(NEB):c.22153del (p.Val7385fs)
|
|
|
NM_001164508.2(NEB):c.22161+1G>A
|
rs112933443
|
|
NM_001164508.2(NEB):c.22162-5_22162-2del
|
rs1553644243
|
|
NM_001164508.2(NEB):c.22215_22220delinsGC (p.Ile7405fs)
|
|
|
NM_001164508.2(NEB):c.22240_22241insTAGC (p.His7414fs)
|
|
|
NM_001164508.2(NEB):c.22272+1G>A
|
|
|
NM_001164508.2(NEB):c.22272+2_22272+3del
|
rs2153447342
|
|
NM_001164508.2(NEB):c.22272+2dup
|
rs773465809
|
|
NM_001164508.2(NEB):c.22273-1G>A
|
rs1553642332
|
|
NM_001164508.2(NEB):c.22287_22292delinsCGAT (p.Lys7429fs)
|
|
|
NM_001164508.2(NEB):c.22294_22295insCAGATTTA (p.Lys7432fs)
|
|
|
NM_001164508.2(NEB):c.22315dup (p.Thr7439fs)
|
|
|
NM_001164508.2(NEB):c.22353_22354insCA (p.Ala7452fs)
|
|
|
NM_001164508.2(NEB):c.22375-1G>C
|
|
|
NM_001164508.2(NEB):c.22375-2A>G
|
rs2153437998
|
|
NM_001164508.2(NEB):c.22389del (p.Lys7464fs)
|
|
|
NM_001164508.2(NEB):c.22479+1del
|
rs1488066635
|
|
NM_001164508.2(NEB):c.22479G>C (p.Gln7493His)
|
rs1474341248
|
|
NM_001164508.2(NEB):c.22480-1G>C
|
|
|
NM_001164508.2(NEB):c.22483A>T (p.Lys7495Ter)
|
|
|
NM_001164508.2(NEB):c.22500_22501del (p.Phe7500fs)
|
|
|
NM_001164508.2(NEB):c.22511del (p.Lys7504fs)
|
rs2080623161
|
|
NM_001164508.2(NEB):c.22597_22601del (p.Tyr7533fs)
|
|
|
NM_001164508.2(NEB):c.22613del (p.Lys7538fs)
|
|
|
NM_001164508.2(NEB):c.22622delinsTT (p.His7541fs)
|
|
|
NM_001164508.2(NEB):c.22695+1G>A
|
|
|
NM_001164508.2(NEB):c.22696-2A>C
|
|
|
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg)
|
rs1575897069
|
|
NM_001164508.2(NEB):c.22792_22793del (p.Gln7598fs)
|
|
|
NM_001164508.2(NEB):c.22800+2T>G
|
rs1553627466
|
|
NM_001164508.2(NEB):c.22804A>T (p.Lys7602Ter)
|
|
|
NM_001164508.2(NEB):c.22880_22881del (p.Lys7627fs)
|
|
|
NM_001164508.2(NEB):c.22883_22884del (p.Glu7628fs)
|
|
|
NM_001164508.2(NEB):c.22891C>T (p.Gln7631Ter)
|
|
|
NM_001164508.2(NEB):c.22906-1G>C
|
|
|
NM_001164508.2(NEB):c.22939A>T (p.Lys7647Ter)
|
|
|
NM_001164508.2(NEB):c.23017-3_23017del
|
|
|
NM_001164508.2(NEB):c.23069_23072del (p.Glu7690fs)
|
|
|
NM_001164508.2(NEB):c.23116del (p.Ile7706fs)
|
|
|
NM_001164508.2(NEB):c.23127+1G>A
|
|
|
NM_001164508.2(NEB):c.23127+2T>A
|
|
|
NM_001164508.2(NEB):c.23128-1G>T
|
|
|
NM_001164508.2(NEB):c.23133_23144delinsG (p.Tyr7712fs)
|
rs2153276539
|
|
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)
|
rs1575714905
|
|
NM_001164508.2(NEB):c.23149G>T (p.Glu7717Ter)
|
|
|
NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)
|
|
|
NM_001164508.2(NEB):c.23162_23165delinsCAGATGTGTAT (p.Lys7721fs)
|
|
|
NM_001164508.2(NEB):c.23174_23187del (p.Leu7725fs)
|
|
|
NM_001164508.2(NEB):c.23186delinsGAATCA (p.Ala7729fs)
|
|
|
NM_001164508.2(NEB):c.23241+2T>A
|
rs1553615846
|
|
NM_001164508.2(NEB):c.23242-2A>G
|
|
|
NM_001164508.2(NEB):c.23346+1G>A
|
|
|
NM_001164508.2(NEB):c.23346+2T>G
|
|
|
NM_001164508.2(NEB):c.23347-2A>G
|
|
|
NM_001164508.2(NEB):c.23351dup (p.Tyr7785fs)
|
rs1559360386
|
|
NM_001164508.2(NEB):c.23355C>G (p.Tyr7785Ter)
|
|
|
NM_001164508.2(NEB):c.23378del (p.Met7793fs)
|
rs1553603690
|
|
NM_001164508.2(NEB):c.23415dup (p.Gln7806fs)
|
rs1553603438
|
|
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs)
|
rs1553603400
|
|
NM_001164508.2(NEB):c.23451+1G>A
|
|
|
NM_001164508.2(NEB):c.23451+1G>C
|
rs1011425121
|
|
NM_001164508.2(NEB):c.23452-1G>A
|
|
|
NM_001164508.2(NEB):c.23452-1G>C
|
|
|
NM_001164508.2(NEB):c.23457dup (p.Tyr7820fs)
|
|
|
NM_001164508.2(NEB):c.23494dup (p.Thr7832fs)
|
|
|
NM_001164508.2(NEB):c.23496_23499del (p.Val7833fs)
|
rs762780413
|
|
NM_001164508.2(NEB):c.23502_23503del (p.Gln7835fs)
|
|
|
NM_001164508.2(NEB):c.23551del (p.Ser7851fs)
|
|
|
NM_001164508.2(NEB):c.23556+1G>T
|
rs2153195911
|
|
NM_001164508.2(NEB):c.23556+2T>A
|
|
|
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.23645_23646delinsCCGACCACTGTG (p.Ser7882fs)
|
|
|
NM_001164508.2(NEB):c.23650-1G>A
|
rs2153172016
|
|
NM_001164508.2(NEB):c.23650-2A>T
|
|
|
NM_001164508.2(NEB):c.23742+1G>A
|
|
|
NM_001164508.2(NEB):c.23743-1G>C
|
rs797045098
|
|
NM_001164508.2(NEB):c.23786dup (p.Thr7930fs)
|
rs756612643
|
|
NM_001164508.2(NEB):c.23795del (p.Glu7932fs)
|
rs1396689726
|
|
NM_001164508.2(NEB):c.23834C>A (p.Ser7945Ter)
|
rs755970391
|
|
NM_001164508.2(NEB):c.23835+1G>A
|
rs781120931
|
|
NM_001164508.2(NEB):c.23835+2T>C
|
|
|
NM_001164508.2(NEB):c.23836-1G>A
|
|
|
NM_001164508.2(NEB):c.23836-2A>G
|
rs2153104173
|
|
NM_001164508.2(NEB):c.23848_23851dup (p.Asn7951fs)
|
rs1559296376
|
|
NM_001164508.2(NEB):c.23929-1G>C
|
rs2153074006
|
|
NM_001164508.2(NEB):c.23929-2A>C
|
rs1553569122
|
|
NM_001164508.2(NEB):c.23939_23940del (p.Lys7980fs)
|
|
|
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)
|
rs756384471
|
|
NM_001164508.2(NEB):c.23967dup (p.Pro7990fs)
|
rs2064466448
|
|
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.24004C>T (p.Gln8002Ter)
|
rs2153072192
|
|
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs)
|
rs1553568357
|
|
NM_001164508.2(NEB):c.24022-1G>A
|
rs1553561697
|
|
NM_001164508.2(NEB):c.24022-1_24029del
|
rs1423137705
|
|
NM_001164508.2(NEB):c.24023_24026dup (p.Leu8009fs)
|
rs1553561665
|
|
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs)
|
rs772009599
|
|
NM_001164508.2(NEB):c.24039del (p.Asn8013fs)
|
rs1553561525
|
|
NM_001164508.2(NEB):c.24051del (p.Ile8018fs)
|
rs758105619
|
|
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.24114+1G>C
|
|
|
NM_001164508.2(NEB):c.24115-1G>A
|
|
|
NM_001164508.2(NEB):c.24115-2A>G
|
rs2152992966
|
|
NM_001164508.2(NEB):c.24127_24130dup (p.Asn8044fs)
|
rs1553556275
|
|
NM_001164508.2(NEB):c.24129_24130delinsTAGC (p.Glu8043fs)
|
|
|
NM_001164508.2(NEB):c.24131del (p.Asn8044fs)
|
|
|
NM_001164508.2(NEB):c.24166_24169dup (p.Met8057fs)
|
|
|
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.24207+2T>C
|
rs1553555768
|
|
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.24248del (p.Pro8083fs)
|
|
|
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.24277_24280dup (p.Asn8094fs)
|
rs1553551650
|
|
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
|
|
|
NM_001164508.2(NEB):c.24297_24300+1del
|
|
|
NM_001164508.2(NEB):c.24301-1G>T
|
|
|
NM_001164508.2(NEB):c.24301_24305dup (p.Tyr8103fs)
|
rs1553548771
|
|
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.24305T>A (p.Leu8102Ter)
|
rs1553548752
|
|
NM_001164508.2(NEB):c.24309C>A (p.Tyr8103Ter)
|
rs1332061304
|
|
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)
|
rs934111355
|
|
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
|
|
|
NM_001164508.2(NEB):c.24361_24364dup (p.Val8122fs)
|
|
|
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.24377_24383del (p.Gln8126fs)
|
rs1553548018
|
|
NM_001164508.2(NEB):c.24394-1G>A
|
rs1421095081
|
|
NM_001164508.2(NEB):c.24394-1G>C
|
|
|
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)
|
rs763364977
|
|
NM_001164508.2(NEB):c.24477_24480dup (p.Ser8161delinsTyrTer)
|
rs797044606
|
|
NM_001164508.2(NEB):c.24487-1G>A
|
|
|
NM_001164508.2(NEB):c.24487-2A>G
|
|
|
NM_001164508.2(NEB):c.24487-6_24491del
|
|
|
NM_001164508.2(NEB):c.24503dup (p.Asn8168fs)
|
rs2152876577
|
|
NM_001164508.2(NEB):c.24527dup (p.Val8177fs)
|
rs2152876033
|
|
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs)
|
rs1553537512
|
|
NM_001164508.2(NEB):c.24579+1G>A
|
|
|
NM_001164508.2(NEB):c.24579+1G>C
|
|
|
NM_001164508.2(NEB):c.24579+1G>T
|
rs2058584112
|
|
NM_001164508.2(NEB):c.24579+2T>C
|
rs1039759571
|
|
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)
|
rs202048855
|
|
NM_001164508.2(NEB):c.24580-1G>C
|
rs1574772311
|
|
NM_001164508.2(NEB):c.24580-2A>G
|
rs113290650
|
|
NM_001164508.2(NEB):c.24605_24606insCACTCAGC (p.Lys8202fs)
|
|
|
NM_001164508.2(NEB):c.24615dup (p.Thr8206fs)
|
|
|
NM_001164508.2(NEB):c.24637G>T (p.Glu8213Ter)
|
rs1553536267
|
|
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs)
|
rs1357811155
|
|
NM_001164508.2(NEB):c.24662dup (p.Asn8221fs)
|
|
|
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer)
|
rs794727136
|
|
NM_001164508.2(NEB):c.24666del (p.Phe8222fs)
|
rs794727136
|
|
NM_001164508.2(NEB):c.24672+1G>C
|
|
|
NM_001164508.2(NEB):c.24673-1G>A
|
rs1574741105
|
|
NM_001164508.2(NEB):c.24673-1G>C
|
|
|
NM_001164508.2(NEB):c.24673-2A>C
|
rs112687345
|
|
NM_001164508.2(NEB):c.24703dup (p.Thr8235fs)
|
|
|
NM_001164508.2(NEB):c.24710_24731del (p.Thr8237fs)
|
rs761067911
|
|
NM_001164508.2(NEB):c.24730G>T (p.Glu8244Ter)
|
|
|
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)
|
rs776059611
|
|
NM_001164508.2(NEB):c.24765+1G>A
|
rs2058028669
|
|
NM_001164508.2(NEB):c.24765+2T>A
|
rs2152850167
|
|
NM_001164508.2(NEB):c.24766-9_24767del
|
rs1553530144
|
|
NM_001164508.2(NEB):c.24772_24778delinsA (p.Tyr8258_Asp8260delinsAsn)
|
|
|
NM_001164508.2(NEB):c.24873+2T>C
|
|
|
NM_001164508.2(NEB):c.24911_24914dup (p.Phe8305fs)
|
rs2152822941
|
|
NM_001164508.2(NEB):c.24913_24914delinsA (p.Phe8305fs)
|
|
|
NM_001164508.2(NEB):c.24957_24958del (p.Asn8320fs)
|
|
|
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)
|
rs767709270
|
|
NM_001164508.2(NEB):c.24997C>T (p.Gln8333Ter)
|
|
|
NM_001164508.2(NEB):c.25012delinsTA (p.Glu8338Ter)
|
rs1553526619
|
|
NM_001164508.2(NEB):c.25057+1G>A
|
rs1191429915
|
|
NM_001164508.2(NEB):c.25057+1G>C
|
rs1191429915
|
|
NM_001164508.2(NEB):c.25057+1G>T
|
rs1191429915
|
|
NM_001164508.2(NEB):c.25058-2A>C
|
rs866309952
|
|
NM_001164508.2(NEB):c.25061del (p.Leu8354fs)
|
|
|
NM_001164508.2(NEB):c.25151-1G>T
|
rs1553520609
|
|
NM_001164508.2(NEB):c.25151-2A>G
|
|
|
NM_001164508.2(NEB):c.25158_25159del (p.Gln8387fs)
|
|
|
NM_001164508.2(NEB):c.25158_25170del (p.Gln8387fs)
|
|
|
NM_001164508.2(NEB):c.25214del (p.Gly8405fs)
|
rs1553520266
|
|
NM_001164508.2(NEB):c.25215_25216del (p.Glu8406fs)
|
|
|
NM_001164508.2(NEB):c.25235_25297+90del
|
|
|
NM_001164508.2(NEB):c.25276_25277del (p.Gly8426fs)
|
|
|
NM_001164508.2(NEB):c.25291_25292del (p.Ser8431fs)
|
|
|
NM_001164508.2(NEB):c.25297+1G>A
|
rs113525641
|
|
NM_001164508.2(NEB):c.25297+2del
|
rs1553519860
|
|
NM_001164508.2(NEB):c.25298-2A>C
|
|
|
NM_001164508.2(NEB):c.25298-2A>G
|
|
|
NM_001164508.2(NEB):c.25340C>A (p.Ser8447Ter)
|
rs1553519124
|
|
NM_001164508.2(NEB):c.25404+1G>A
|
|
|
NM_001164508.2(NEB):c.25404+1G>T
|
|
|
NM_001164508.2(NEB):c.25404+2T>A
|
rs1553518813
|
|
NM_001164508.2(NEB):c.25405-1G>A
|
|
|
NM_001164508.2(NEB):c.25408_25409del (p.Ile8470fs)
|
|
|
NM_001164508.2(NEB):c.25426_25429dup (p.Tyr8477Ter)
|
rs2152620357
|
|