PHF6

PHF6 PHD finger protein 6

Annotation transcript: NM_001015877.2

848 unique variant annotations were identified in 503 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
X-133511648-A-G c.1A>G p.M1? Missense 2/11 - 5
X-133511649-T-C c.2T>C p.M1? Missense 2/11 - 7
X-133511650-G-A c.3G>A p.M1? Missense 2/11 - 2
X-133511650-G-C c.3G>C p.M1? Missense 2/11 - 2
X-133511650-G-T c.3G>T p.M1? Missense 2/11 - 1
X-133511652-C-A c.5C>A p.S2* Nonsense 2/11 - 2
X-133511652-C-G c.5C>G p.S2* Nonsense 2/11 - 4
X-133511653-A-C c.6A>C p.S2= Synonymous 2/11 - 1
X-133511653-A-G c.6A>G p.S2= Synonymous 2/11 - 1
X-133511653-A-T c.6A>T p.S2= Synonymous 2/11 - 1
X-133511658-C-A c.11C>A p.S4* Nonsense 2/11 - 1
X-133511658-C-G c.11C>G p.S4* Nonsense 2/11 - 1
X-133511658-C-T c.11C>T p.S4L Missense 2/11 - 3
X-133511663-G-T c.16G>T p.E6* Nonsense 2/11 - 2
X-133511666-C-T c.19C>T p.Q7* Nonsense 2/11 - 3
X-133511669-A-T c.22A>T p.K8* Nonsense 2/11 - 2
X-133511668-GAA-G c.26_27del p.K9Rfs*12 Frameshift 2/11 - 2
X-133511668-GA-G c.27del p.P11Lfs*22 Frameshift 2/11 - 1
X-133511668-G-GA c.27dup p.G10Rfs*12 Frameshift 2/11 - 8
X-133511675-G-A c.28G>A p.G10R Missense 2/11 - 1
X-133511675-G-C c.28G>C p.G10R Missense 2/11 - 1
X-133511675-G-T c.28G>T p.G10W Missense 2/11 - 1
X-133511676-GGGCCTAC-G c.29_35del p.G10Efs*21 Frameshift 2/11 - 1
X-133511681-TA-T c.34del p.T12Qfs*21 Frameshift 2/11 - 1
X-133511682-C-A c.35C>A p.T12K Missense 2/11 - 1
X-133511685-G-GT c.38_39insT p.R13Sfs*9 Frameshift 2/11 - 1
X-133511686-ACAGCG-A c.42_46del p.R15Mfs*5 Frameshift 2/11 - 1
X-133511691-G-A c.44G>A p.R15H Missense 2/11 - 4
X-133511693-A-C c.46A>C p.K16Q Missense 2/11 - 1
X-133511694-A-T c.47A>T p.K16I Missense 2/11 - 1
X-133511692-C-CA c.48dup p.C17Mfs*5 Frameshift 2/11 - 1
X-133511695-A-C c.48A>C p.K16N Missense 2/11 - 1
X-133511695-A-G c.48A>G p.K16= Synonymous 2/11 - 1
X-133511695-A-T c.48A>T p.K16N Missense 2/11 - 1
X-133511696-T-C c.49T>C p.C17R Missense 2/11 - 1
X-133511698-T-A c.51T>A p.C17* Nonsense 2/11 - 1
X-133511698-T-C c.51T>C p.C17= Synonymous 2/11 - 1
X-133511700-G-T c.53G>T p.G18V Missense 2/11 - 1
X-133511703-T-C c.56T>C p.F19S Missense 2/11 - 1
X-133511703-T-G c.56T>G p.F19C Missense 2/11 - 1
X-133511705-T-TAGG c.58_59insAGG p.C20delins* Nonsense 2/11 - 1
X-133511706-G-A c.59G>A p.C20Y Missense 2/11 - 1
X-133511706-G-AAC c.59delinsAAC p.C20* Frameshift 2/11 - 1
X-133511706-G-T c.59G>T p.C20F Missense 2/11 - 3
X-133511707-T-A c.60T>A p.C20* Nonsense 2/11 - 3
X-133511707-T-TTTAAAATTCCCC c.60_61insTTAAAATTCCCC p.C20_K21insLKFP InFrameInsertion 2/11 - 1
X-133511706-G-GTAGC c.61_62insGCTA p.K21Sfs*2 Frameshift 2/11 - 1
X-133511708-TAA-T c.61_62del p.K21Vfs*3 Frameshift 2/11 - 1
X-133511710-AGT-A c.63_64del p.K21Nfs*3 Frameshift 2/11 - 1
X-133511711-TC-GT c.64_65delinsGT p.S22V Missense 2/11 - 1
X-133511712-C-A c.65C>A p.S22* Nonsense 2/11 - 2
X-133511712-C-CTA c.65_66insTA p.N23Kfs*11 Frameshift 2/11 - 1
X-133511712-C-G c.65C>G p.S22* Nonsense 2/11 - 1
X-133511713-A-AT c.66_67insT p.N23* Nonsense 2/11 - 1
X-133511712-C-CA c.68dup p.N23Kfs*2 Frameshift 2/11 - 2
X-133511715-A-G c.68A>G p.N23S Missense 2/11 - 1
X-133511716-ATAGAG-A c.69_73del p.N23Kfs*11 Frameshift 2/11 - 1
X-133511716-T-A c.69T>A p.N23K Missense 2/11 - 1
X-133511716-T-G c.69T>G p.N23K Missense 2/11 - 1
X-133511716-T-TTGGGTTAAAATAGG c.69_70insTGGGTTAAAATAGG p.R24Wfs*14 Frameshift 2/11 - 1
X-133511717-A-G c.70A>G p.R24G Missense 2/11 - 1
X-133511717-A-T c.70A>T p.R24* Nonsense 2/11 - 1
X-133511718-G-C c.71G>C p.R24T Missense 2/11 - 1
X-133511719-A-AGGAGAGGATGG c.73_74insGAGAGGATGGG p.D25Gfs*12 Frameshift 2/11 - 1
X-133511720-G-A c.73G>A p.D25N Missense 2/11 - 2
X-133511722-C-A c.75C>A p.D25E Missense 2/11 - 1
X-133511722-C-G c.75C>G p.D25E Missense 2/11 - 1
X-133511721-A-ACATT c.76_77insTTCA p.K26Ifs*11 Frameshift 2/11 - 1
X-133511723-A-G c.76A>G p.K26E Missense 2/11 - 1
X-133511723-A-T c.76A>T p.K26* Nonsense 2/11 - 2
X-133511724-AG-A c.79del p.E27Nfs*6 Frameshift 2/11 - 1
X-133511726-G-T c.79G>T p.E27* Nonsense 2/11 - 3
X-133511726-G-GAGAGAATCCTCGAGAGGGGGAC c.80_81insGAGAATCCTCGAGAGGGGGACA p.C28Rfs*15 Frameshift 2/11 - 1
X-133511726-GA-G c.81del p.E27Dfs*6 Frameshift 2/11 - 3
X-133511726-G-GA c.81dup p.C28Mfs*8 Frameshift 2/11 - 1
X-133511730-GTGGACAGTTACTAATATC-AT c.83_101delinsAT p.C28Yfs*2 Frameshift 2/11 - 1
X-133511732-G-A c.85G>A p.G29R Missense 2/11 - 2
X-133511734-A-G c.87A>G p.G29= Synonymous 2/11 - 1
X-133511734-GA-G c.87del p.Q30Sfs*3 Frameshift 2/11 - 1
X-133511735-C-T c.88C>T p.Q30* Nonsense 2/11 - 3
X-133511736-CAGT-C c.89_91del p.Q30del InFrameDeletion 2/11 - 1
X-133511736-A-AGCCC c.90_91insCCCG p.L31Pfs*6 Frameshift 2/11 - 1
X-133511737-AG-A c.90del p.Q30Hfs*3 Frameshift 2/11 - 1
X-133511738-GTT-G c.91_92del p.L31Tfs*4 Frameshift 2/11 - 1
X-133511739-T-A c.92T>A p.L31* Nonsense 2/11 - 1
X-133511739-T-G c.92T>G p.L31* Nonsense 2/11 - 2
X-133511739-T-TA c.93dup p.L32Tfs*4 Frameshift 2/11 - 1
X-133511740-A-AG c.93_94insG p.L32Afs*4 Frameshift 2/11 - 1
X-133511741-ACT-A c.94_95del p.L32Nfs*3 Frameshift 2/11 - 2
X-133511741-C-G c.94C>G p.L32V Missense 2/11 - 2
X-133511744-A-T c.97A>T p.I33L Missense 2/11 - 1
X-133511746-TA-T c.99del p.S34Lfs*47 Frameshift 2/11 - 1
X-133511748-C-T c.101C>T p.S34F Missense 2/11 - 1
X-133511750-G-T c.103G>T p.E35* Nonsense 2/11 - 4
X-133511756-CCAGAAGGTGGCAGCGCACCATAA-C c.109_131del p.Q37Vfs*14 Frameshift 2/11 - 1
X-133511756-C-G c.109C>G p.Q37E Missense 2/11 - 1
X-133511756-C-CA c.110dup p.K38Efs*7 Frameshift 2/11 - 1
X-133511757-A-G c.110A>G p.Q37R Missense 2/11 - 1
X-133511759-A-G c.112A>G p.K38E Missense 2/11 - 3
X-133511763-T-TGA c.117_118insAG p.A40Rfs*42 Frameshift 2/11 - 1
X-133511765-G-A c.118G>A p.A40T Missense 2/11 - 2
X-133511766-C-G c.119C>G p.A40G Missense 2/11 - 3
X-133511766-C-T c.119C>T p.A40V Missense 2/11 - 3
X-133511765-G-GCAGCTGC c.122_123insTGCCAGC p.H42Afs*5 Frameshift 2/11 - 1
X-133511769-C-CT c.122_123insT p.H42Afs*3 Frameshift 2/11 - 1
X-133511769-C-G c.122C>G p.A41G Missense 2/11 - 2
X-133511770-G-A c.123G>A p.A41= Synonymous 2/11 - 1
X-133511770-G-C c.123G>C p.A41= Synonymous 2/11 - 1
X-133511770-G-T c.123G>T p.A41= Synonymous 2/11 - 1
X-133511771-C-CAGGCA c.125_126insGGCAA p.H42Qfs*41 Frameshift 2/11 - 1
X-133511774-C-CATTGGGATCCATAG c.129_130insTGGGATCCATAGAT p.K44Wfs*4 Frameshift 2/11 - 3
X-133511775-A-AT c.129dup p.K44* Nonsense 2/11 - 2
X-133511776-T-TGG c.129_130insGG p.K44Gfs*38 Frameshift 2/11 - 1
X-133511777-A-T c.130A>T p.K44* Nonsense 2/11 - 1
X-133511775-A-ATAAACCTACCC c.131_132insACCTACCCTAA p.C45Pfs*40 Frameshift 2/11 - 3
X-133511778-A-G c.131A>G p.K44R Missense 2/11 - 1
X-133511781-G-A c.134G>A p.C45Y Missense 2/11 - 8
X-133511781-TG-T c.134del p.C45Sfs*36 Frameshift 2/11 - 1
X-133511782-C-A c.135C>A p.C45* Nonsense 2/11 - 2
X-133511862-TA-T c.138+88del - IntronicDeletion - 2/10 1
X-133511988-G-A c.139-47G>A - IntronicSNV - 2/10 6
X-133512035-CT-TG c.139_140delinsTG p.L47C Missense 3/11 - 1
X-133512036-T-A c.140T>A p.L47H Missense 3/11 - 1
X-133512036-T-C c.140T>C p.L47P Missense 3/11 - 2
X-133512037-C-A c.141C>A p.L47= Synonymous 3/11 - 1
X-133512037-C-G c.141C>G p.L47= Synonymous 3/11 - 1
X-133512037-C-T c.141C>T p.L47= Synonymous 3/11 - 1
X-133512038-T-C c.142T>C p.F48L Missense 3/11 - 1
X-133512042-C-T c.146C>T p.S49L Missense 3/11 - 2
X-133512045-C-G c.149C>G p.S50C Missense 3/11 - 1
X-133512048-C-G c.152C>G p.A51G Missense 3/11 - 1
X-133512050-TT-GC c.154_155delinsGC p.L52A Missense 3/11 - 1
X-133512052-G-T c.156G>T p.L52F Missense 3/11 - 1
X-133512056-T-A c.160T>A p.S54T Missense 3/11 - 2
X-133512057-C-G c.161C>G p.S54* Nonsense 3/11 - 1
X-133512057-C-T c.161C>T p.S54L Missense 3/11 - 1
X-133512058-A-C c.162A>C p.S54= Synonymous 3/11 - 1
X-133512058-A-G c.162A>G p.S54= Synonymous 3/11 - 1
X-133512058-A-T c.162A>T p.S54= Synonymous 3/11 - 1
X-133512061-CA-C c.165del p.H56Tfs*25 Frameshift 3/11 - 1
X-133512070-T-A c.174T>A p.D58E Missense 3/11 - 1
X-133512070-T-G c.174T>G p.D58E Missense 3/11 - 1
X-133512072-A-G c.176A>G p.N59S Missense 3/11 - 1
X-133512074-G-A c.178G>A p.E60K Missense 3/11 - 1
X-133512074-G-T c.178G>T p.E60* Nonsense 3/11 - 1
X-133512075-A-AGGCC c.179_180insGGCC p.S61Afs*9 Frameshift 3/11 - 1
X-133512078-G-T c.182G>T p.S61I Missense 3/11 - 1
X-133512083-G-T c.187G>T p.G63C Missense 3/11 - 2
X-133512084-G-A c.188G>A p.G63D Missense 3/11 - 1
X-133512084-G-T c.188G>T p.G63V Missense 3/11 - 1
X-133512080-C-CTTGGTGGGATCGGAAGAGCACACGTCTGAACTCCAGTCACAGTACAAGATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAA c.191_192insGATCGGAAGAGCACACGTCTGAACTCCAGTCACAGTACAAGATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAATTGGTGG p.F65Ifs*7 Frameshift 3/11 - 1
X-133512087-G-T c.191G>T p.G64V Missense 3/11 - 3
X-133512085-T-TGGATTGATCGGAAGAGCACACGTCTGAACTCCAGTCACAGTGGTCAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAA c.194_195insGATCGGAAGAGCACACGTCTGAACTCCAGTCACAGTGGTCAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAGGATT p.F65Lfs*8 Frameshift 3/11 - 1
X-133512088-A-ATTTGACAGGAAGAGCACAAGGCTTAACAGCAGCCATAACAGGGAGAGCAGGATGCCTAGCAGCGCATAAAAGAAGAAG c.195_196insGACAGGAAGAGCACAAGGCTTAACAGCAGCCATAACAGGGAGAGCAGGATGCCTAGCAGCGCATAAAAGAAGAAGTTT p.F65_S66insDRKSTRLNSSHNRESRMPSSA* InFrameInsertion 3/11 - 1
X-133512091-T-A c.195T>A p.F65L Missense 3/11 - 1
X-133512091-T-TTAAAGCGAGGAGCATACAAGCGAGCTTCAAAGCCAAAGGGACATCAGCTATGCAGTATTTTGTCTTAAGAAGAAGATC c.196_197insAAAGCGAGGAGCATACAAGCGAGCTTCAAAGCCAAAGGGACATCAGCTATGCAGTATTTTGTCTTAAGAAGAAGATCT p.F65_S66ins* InFrameInsertion 3/11 - 1
X-133512086-G-GGATTTTCAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACTATGCAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAA c.197_198insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACTATGCAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAGATTTTC p.I67Dfs*22 Frameshift 3/11 - 1
X-133512095-A-G c.199A>G p.I67V Missense 3/11 - 2
X-133512098-G-C c.202G>C p.E68Q Missense 3/11 - 1
X-133512098-G-T c.202G>T p.E68* Nonsense 3/11 - 2
X-133512107-C-A c.211C>A p.Q71K Missense 3/11 - 1
X-133512107-C-T c.211C>T p.Q71* Nonsense 3/11 - 2
X-133512109-A-C c.213A>C p.Q71H Missense 3/11 - 1
X-133512111-A-G c.215A>G p.K72R Missense 3/11 - 1
X-133512113-GA-AG c.217_218delinsAG p.E73R Missense 3/11 - 1
X-133512115-A-C c.219A>C p.E73D Missense 3/11 - 1
X-133512115-A-T c.219A>T p.E73D Missense 3/11 - 1
X-133512117-T-C c.221T>C p.I74T Missense 3/11 - 1
X-133512118-T-AC c.222delinsAC p.K75Qfs*21 Frameshift 3/11 - 1
X-133512119-A-G c.223A>G p.K75E Missense 3/11 - 1
X-133512126-G-A c.230G>A p.G77D Missense 3/11 - 1
X-133512129-C-T c.233C>T p.T78M Missense 3/11 - 3
X-133512256-CTT-C c.240+130_240+131del - IntronicDeletion - 3/10 1
X-133512256-CT-C c.240+131del - IntronicDeletion - 3/10 2
X-133516343-A-AT c.240+4212dup - IntronicInsertion - 3/10 1
X-133519768-AT-A c.240+7640del - IntronicDeletion - 3/10 1
X-133525008-T-C c.241-2523T>C - IntronicSNV - 3/10 1
X-133527533-G-A c.243G>A p.M81I Missense 4/11 - 2
X-133527534-T-C c.244T>C p.C82R Missense 4/11 - 1
X-133527534-TG-GC c.244_245delinsGC p.C82A Missense 4/11 - 1
X-133527535-G-A c.245G>A p.C82Y Missense 4/11 - 2
X-133527537-TC-GG c.247_248delinsGG p.S83G Missense 4/11 - 1
X-133527538-C-A c.248C>A p.S83Y Missense 4/11 - 1
X-133527538-C-T c.248C>T p.S83F Missense 4/11 - 3
X-133527542-G-T c.252G>T p.L84F Missense 4/11 - 1
X-133527545-C-A c.255C>A p.C85* Nonsense 4/11 - 3
X-133527544-GC-G c.256del p.H86Ifs*11 Frameshift 4/11 - 1
X-133527546-C-T c.256C>T p.H86Y Missense 4/11 - 1
X-133527549-TG-GA c.259_260delinsGA p.C87D Missense 4/11 - 1
X-133527552-C-G c.262C>G p.P88A Missense 4/11 - 1
X-133527555-GGA-TAT c.265_267delinsTAT p.G89Y Missense 4/11 - 1
X-133527555-G-T c.265G>T p.G89* Nonsense 4/11 - 1
X-133527556-G-T c.266G>T p.G89V Missense 4/11 - 4
X-133527557-A-ATTAGGACC c.267_268insTTAGGACC p.A90Lfs*10 Frameshift 4/11 - 1
X-133527558-G-A c.268G>A p.A90T Missense 4/11 - 2
X-133527558-GCA-TGT c.268_270delinsTGT p.A90C Missense 4/11 - 1
X-133527558-GCA-TTT c.268_270delinsTTT p.A90F Missense 4/11 - 1
X-133527558-G-GC c.269dup p.T91Nfs*5 Frameshift 4/11 - 2
X-133527561-A-G c.271A>G p.T91A Missense 4/11 - 1
X-133527567-G-A c.277G>A p.G93S Missense 4/11 - 3
X-133527567-G-T c.277G>T p.G93C Missense 4/11 - 2
X-133527573-G-C c.283G>C p.D95H Missense 4/11 - 1
X-133527576-G-A c.286G>A p.V96M Missense 4/11 - 1
X-133527579-A-T c.289A>T p.K97* Nonsense 4/11 - 1
X-133527582-AC-GG c.292_293delinsGG p.T98G Missense 4/11 - 1
X-133527583-C-T c.293C>T p.T98I Missense 4/11 - 1
X-133527586-G-T c.296G>T p.C99F Missense 4/11 - 11
X-133527587-T-A c.297T>A p.C99* Nonsense 4/11 - 3
X-133527588-C-A c.298C>A p.H100N Missense 4/11 - 2
X-133527589-A-G c.299A>G p.H100R Missense 4/11 - 1
X-133527590-C-A c.300C>A p.H100Q Missense 4/11 - 1
X-133527592-G-A c.302G>A p.R101K Missense 4/11 - 1
X-133527592-G-T c.302G>T p.R101M Missense 4/11 - 1
X-133527591-A-C c.301A>C p.R101= Synonymous 4/11 - 1
X-133527593-G-A c.303G>A p.R101= Synonymous 4/11 - 1
X-133527597-T-TA c.308dup p.Y103* Nonsense 4/11 - 2
X-133527599-ACC-A c.309_310del p.Y103* Frameshift 4/11 - 1
X-133527599-C-A c.309C>A p.Y103* Nonsense 4/11 - 3
X-133527599-C-G c.309C>G p.Y103* Nonsense 4/11 - 2
X-133527598-ACCACTAC-A c.310_316del p.H104Tfs*37 Frameshift 4/11 - 1
X-133527600-C-A c.310C>A p.H104N Missense 4/11 - 1
X-133527601-A-C c.311A>C p.H104P Missense 4/11 - 1
X-133527601-A-G c.311A>G p.H104R Missense 4/11 - 1
X-133527603-T-A c.313T>A p.Y105N Missense 4/11 - 1
X-133527604-A-G c.314A>G p.Y105C Missense 4/11 - 1
X-133527606-C-A c.316C>A p.H106N Missense 4/11 - 1
X-133527606-C-T c.316C>T p.H106Y Missense 4/11 - 1
X-133527610-G-T c.320G>T p.C107F Missense 4/11 - 1
X-133527611-T-A c.321T>A p.C107* Nonsense 4/11 - 1
X-133527611-T-C c.321T>C p.C107= Synonymous 4/11 - 1
X-133527612-G-GA c.322_323insA p.A108Dfs*4 Frameshift 4/11 - 1
X-133527612-G-T c.322G>T p.A108S Missense 4/11 - 2
X-133527617-G-T c.327G>T p.L109F Missense 4/11 - 1
X-133527618-C-T c.328C>T p.H110Y Missense 4/11 - 1
X-133527618-CATGATAA-C c.330_336del p.H110Qfs*31 Frameshift 4/11 - 1
X-133527618-C-CATTTAGATTAAACAACTACGA c.330_331insTTAGATTAAACAACTACGAAT p.H110_D111insLD* Frameshift 4/11 - 1
X-133527621-G-T c.331G>T p.D111Y Missense 4/11 - 1
X-133527622-A-T c.332A>T p.D111V Missense 4/11 - 2
X-133527624-A-T c.334A>T p.K112* Nonsense 4/11 - 1
X-133527627-G-T c.337G>T p.A113S Missense 4/11 - 2
X-133527630-C-A c.340C>A p.Q114K Missense 4/11 - 1
X-133527630-C-G c.340C>G p.Q114E Missense 4/11 - 1
X-133527630-C-T c.340C>T p.Q114* Nonsense 4/11 - 1
X-133527631-A-ACC c.341_342insCC p.Q114Hfs*30 Frameshift 4/11 - 1
X-133527634-T-A c.344T>A p.I115K Missense 4/11 - 1
X-133527636-CGA-TGG c.346_348delinsTGG p.R116W Missense 4/11 - 1
X-133527636-C-T c.346C>T p.R116* Nonsense 4/11 - 30
X-133527637-G-A c.347G>A p.R116Q Missense 4/11 - 7
X-133527637-G-T c.347G>T p.R116L Missense 4/11 - 1
X-133527639-G-A c.349G>A p.E117K Missense 4/11 - 1
X-133527639-G-C c.349G>C p.E117Q Missense 4/11 - 1
X-133527639-G-T c.349G>T p.E117* Nonsense 4/11 - 1
X-133527640-A-T c.350A>T p.E117V Missense 4/11 - 1
X-133527641-G-C c.351G>C p.E117D Missense 4/11 - 1
X-133527641-G-T c.351G>T p.E117D Missense 4/11 - 1
X-133527642-A-C c.352A>C p.K118Q Missense 4/11 - 1
X-133527642-A-T c.352A>T p.K118* Nonsense 4/11 - 3
X-133527645-C-A c.355C>A p.P119T Missense 4/11 - 1
X-133527647-T-C c.357T>C p.P119= Synonymous 4/11 - 1
X-133527649-C-A c.359C>A p.S120* Nonsense 4/11 - 1
X-133527651-C-A c.361C>A p.Q121K Missense 4/11 - 1
X-133527651-C-CCCAATTCACTAGCTGGATTCAAAATATATT c.361_362insCCAATTCACTAGCTGGATTCAAAATATATT p.Q121delinsPNSLAGFKIY* Frameshift 4/11 - 1
X-133527651-C-T c.361C>T p.Q121* Nonsense 4/11 - 1
X-133527652-A-T c.362A>T p.Q121L Missense 4/11 - 1
X-133527654-G-C c.364G>C p.G122R Missense 4/11 - 1
X-133527654-GGA-AGC c.364_366delinsAGC p.G122S Missense 4/11 - 1
X-133527654-G-T c.364G>T p.G122* Nonsense 4/11 - 2
X-133527655-G-T c.365G>T p.G122V Missense 4/11 - 2
X-133527657-A-G c.367A>G p.I123V Missense 4/11 - 1
X-133527657-A-T c.367A>T p.I123F Missense 4/11 - 1
X-133527658-T-A c.368T>A p.I123N Missense 4/11 - 1
X-133527659-T-TGG c.369_370insGG p.Y124Gfs*20 Frameshift 4/11 - 1
X-133527660-T-A c.370T>A p.Y124N Missense 4/11 - 1
X-133527661-A-T c.371A>T p.Y124F Missense 4/11 - 1
X-133527662-C-A c.372C>A p.Y124* Nonsense 4/11 - 2
X-133527662-C-G c.372C>G p.Y124* Nonsense 4/11 - 1
X-133527663-AT-GC c.373_374delinsGC p.M125A Missense 4/11 - 1
X-133527664-AT-A c.374del p.M125Rfs*18 Frameshift 4/11 - 1
X-133527664-T-TTCATCC c.374_374+1insTCATCC p.M125delinsIHP SpliceDonorInsertion - - 1
X-133527665-G-A c.374+1G>A - IntronicSNV - 4/10 4
X-133527665-G-T c.374+1G>T - IntronicSNV - 4/10 1
X-133527666-T-C c.374+2T>C - IntronicSNV - 4/10 1
X-133527670-T-C c.374+6T>C - IntronicSNV - 4/10 1
X-133527672-T-C c.374+8T>C - IntronicSNV - 4/10 1
X-133527706-ATACT-A c.374+44_374+47del - IntronicDeletion - 4/10 1
X-133527939-G-A c.375G>A p.M125I Missense 5/11 - 2
X-133527939-G-C c.375G>C p.M125I Missense 5/11 - 2
X-133527939-G-T c.375G>T p.M125I Missense 5/11 - 2
X-133527940-G-A c.376G>A p.V126I Missense 5/11 - 3
X-133527941-T-C c.377T>C p.V126A Missense 5/11 - 1
X-133527942-C-G c.378C>G p.V126= Synonymous 5/11 - 2
X-133527942-CTA-C c.380_381del p.Y127Lfs*10 Frameshift 5/11 - 1
X-133527944-A-G c.380A>G p.Y127C Missense 5/11 - 1
X-133527946-TGCC-T c.384_386del p.C128_R129delins* MultiAAMissense 5/11 - 1
X-133527948-C-A c.384C>A p.C128* Nonsense 5/11 - 1
X-133527948-C-T c.384C>T p.C128= Synonymous 5/11 - 2
X-133527949-CGA-AGC c.385_387delinsAGC p.R129S Missense 5/11 - 1
X-133527949-CGA-ATG c.385_387delinsATG p.R129M Missense 5/11 - 1
X-133527949-CGA-TGT c.385_387delinsTGT p.R129C Missense 5/11 - 1
X-133527949-CG-GC c.385_386delinsGC p.R129A Missense 5/11 - 1
X-133527949-C-T c.385C>T p.R129* Nonsense 5/11 - 21
X-133527950-G-A c.386G>A p.R129Q Missense 5/11 - 4
X-133527953-A-G c.389A>G p.K130R Missense 5/11 - 1
X-133527956-A-G c.392A>G p.H131R Missense 5/11 - 1
X-133527957-C-A c.393C>A p.H131Q Missense 5/11 - 4
X-133527957-C-G c.393C>G p.H131Q Missense 5/11 - 2
X-133527958-CAAGAAAACTGCACATAACT-C c.394_412del p.K132Pfs*5 Frameshift 5/11 - 1
X-133527959-A-G c.395A>G p.K132R Missense 5/11 - 2
X-133527960-G-C c.396G>C p.K132N Missense 5/11 - 1
X-133527960-G-T c.396G>T p.K132N Missense 5/11 - 3
X-133527963-A-T c.399A>T p.K133N Missense 5/11 - 1
X-133527965-C-T c.401C>T p.T134I Missense 5/11 - 1
X-133527967-G-A c.403G>A p.A135T Missense 5/11 - 1
X-133527967-G-T c.403G>T p.A135S Missense 5/11 - 3
X-133527968-C-T c.404C>T p.A135V Missense 5/11 - 1
X-133527970-CAT-C c.408_409del p.H136Qfs*5 Frameshift 5/11 - 1
X-133527971-A-AT c.408dup p.N137* Nonsense 5/11 - 1
X-133527973-TAACTCCGAA-T c.409_417del p.N137_E139del InFrameDeletion 5/11 - 1
X-133527974-A-G c.410A>G p.N137S Missense 5/11 - 4
X-133527977-C-G c.413C>G p.S138C Missense 5/11 - 1
X-133527977-C-T c.413C>T p.S138F Missense 5/11 - 1
X-133527978-C-A c.414C>A p.S138= Synonymous 5/11 - 1
X-133527978-C-G c.414C>G p.S138= Synonymous 5/11 - 1
X-133527978-C-T c.414C>T p.S138= Synonymous 5/11 - 3
X-133527979-G-A c.415G>A p.E139K Missense 5/11 - 4
X-133527979-G-T c.415G>T p.E139* Nonsense 5/11 - 7
X-133527982-AGGTAC-A c.418_418+4del - SpliceDonorDeletion 5/11 5/10 1
X-133527982-G-A c.418G>A p.A140T Missense 5/11 - 4
X-133527983-G-A c.418+1G>A - IntronicSNV - 5/10 3
X-133527983-G-C c.418+1G>C - IntronicSNV - 5/10 1
X-133527984-T-C c.418+2T>C - IntronicSNV - 5/10 3
X-133527985-A-G c.418+3A>G - IntronicSNV - 5/10 1
X-133528038-A-T c.418+56A>T - IntronicSNV - 5/10 1
X-133528116-A-C c.418+134A>C - IntronicSNV - 5/10 3
X-133528186-C-T c.418+204C>T - IntronicSNV - 5/10 1
X-133533700-G-C c.418+5718G>C - IntronicSNV - 5/10 1
X-133533716-G-C c.418+5734G>C - IntronicSNV - 5/10 1
X-133547523-G-A c.421G>A p.D141N Missense 6/11 - 8
X-133547525-T-A c.423T>A p.D141E Missense 6/11 - 1
X-133547525-T-G c.423T>G p.D141E Missense 6/11 - 1
X-133547524-A-AT c.425dup p.L142Ffs*6 Frameshift 6/11 - 2
X-133547527-T-G c.425T>G p.L142* Nonsense 6/11 - 1
X-133547531-A-G c.429A>G p.E143= Synonymous 6/11 - 1
X-133547532-G-T c.430G>T p.E144* Nonsense 6/11 - 4
X-133547537-T-C c.435T>C p.S145= Synonymous 6/11 - 1
X-133547542-A-G c.440A>G p.N147S Missense 6/11 - 1
X-133547544-G-A c.442G>A p.E148K Missense 6/11 - 1
X-133547550-G-C c.448G>C p.E150Q Missense 6/11 - 2
X-133547550-G-T c.448G>T p.E150* Nonsense 6/11 - 1
X-133547556-G-T c.454G>T p.E152* Nonsense 6/11 - 3
X-133547558-G-T c.456G>T p.E152D Missense 6/11 - 1
X-133547559-C-T c.457C>T p.P153S Missense 6/11 - 2
X-133547563-C-A c.461C>A p.S154* Nonsense 6/11 - 3
X-133547563-C-G c.461C>G p.S154* Nonsense 6/11 - 3
X-133547566-C-A c.464C>A p.S155* Nonsense 6/11 - 1
X-133547566-C-G c.464C>G p.S155* Nonsense 6/11 - 1
X-133547567-A-C c.465A>C p.S155= Synonymous 6/11 - 1
X-133547567-A-G c.465A>G p.S155= Synonymous 6/11 - 1
X-133547567-A-T c.465A>T p.S155= Synonymous 6/11 - 1
X-133547568-C-A c.466C>A p.P156T Missense 6/11 - 1
X-133547571-A-C c.469A>C p.K157Q Missense 6/11 - 1
X-133547571-A-T c.469A>T p.K157* Nonsense 6/11 - 1
X-133547572-A-G c.470A>G p.K157R Missense 6/11 - 1
X-133547573-A-AT c.471_472insT p.S158* Nonsense 6/11 - 2
X-133547574-A-G c.472A>G p.S158G Missense 6/11 - 1
X-133547575-G-A c.473G>A p.S158N Missense 6/11 - 1
X-133547578-A-G c.476A>G p.K159R Missense 6/11 - 1
X-133547576-TAAAAAG-T c.479_484del p.K160_K161del InFrameDeletion 6/11 - 1
X-133547576-T-TA c.479dup p.K161Efs*11 Frameshift 6/11 - 2
X-133547582-GAAA-G c.482_484del p.K161del InFrameDeletion 6/11 - 1
X-133547582-GA-G c.484del p.S162Vfs*56 Frameshift 6/11 - 1
X-133547586-A-G c.484A>G p.S162G Missense 6/11 - 3
X-133547589-CG-GC c.487_488delinsGC p.R163A Missense 6/11 - 1
X-133547589-C-T c.487C>T p.R163C Missense 6/11 - 5
X-133547592-AA-GC c.490_491delinsGC p.K164A Missense 6/11 - 1
X-133547592-A-T c.490A>T p.K164* Nonsense 6/11 - 1
X-133547593-A-G c.491A>G p.K164R Missense 6/11 - 4
X-133547595-G-A c.493G>A p.G165R Missense 6/11 - 1
X-133547592-AAAGGAAGGCC-A c.494_503del p.G165Efs*50 Frameshift 6/11 - 1
X-133547596-G-T c.494G>T p.G165V Missense 6/11 - 1
X-133547597-A-C c.495A>C p.G165= Synonymous 6/11 - 1
X-133547597-A-G c.495A>G p.G165= Synonymous 6/11 - 1
X-133547597-A-T c.495A>T p.G165= Synonymous 6/11 - 1
X-133547601-C-T c.499C>T p.P167S Missense 6/11 - 3
X-133547602-C-T c.500C>T p.P167L Missense 6/11 - 1
X-133547603-A-AT c.501_502insT p.R168* Nonsense 6/11 - 1
X-133547602-C-CA c.502dup p.R168Kfs*4 Frameshift 6/11 - 1
X-133547607-A-T c.505A>T p.K169* Nonsense 6/11 - 2
X-133547608-A-C c.506A>C p.K169T Missense 6/11 - 1
X-133547611-C-CT c.510dup p.N171* Nonsense 6/11 - 2
X-133547614-A-T c.512A>T p.N171I Missense 6/11 - 1
X-133547612-TAATTTTA-T c.513_519del p.N171Kfs*45 Frameshift 6/11 - 1
X-133547616-T-TGTGA c.514_515insGTGA p.F172Cfs*3 Frameshift 6/11 - 1
X-133547617-T-C c.515T>C p.F172S Missense 6/11 - 1
X-133547619-A-T c.517A>T p.K173* Nonsense 6/11 - 2
X-133547622-GG-AA c.520_521delinsAA p.G174K Missense 6/11 - 2
X-133547621-AG-A c.522del p.L175Cfs*43 Frameshift 6/11 - 1
X-133547625-CTG-C c.525_526del p.S176Rfs*13 Frameshift 6/11 - 1
X-133547627-G-T c.525G>T p.L175= Synonymous 6/11 - 1
X-133547629-C-A c.527C>A p.S176* Nonsense 6/11 - 1
X-133547629-C-G c.527C>G p.S176* Nonsense 6/11 - 1
X-133547629-C-T c.527C>T p.S176L Missense 6/11 - 1
X-133547631-G-A c.529G>A p.E177K Missense 6/11 - 1
X-133547632-AAG-A c.532_533del p.D178Yfs*11 Frameshift 6/11 - 1
X-133547636-T-A c.534T>A p.D178E Missense 6/11 - 1
X-133547639-C-A c.537C>A p.T179= Synonymous 6/11 - 2
X-133547639-C-G c.537C>G p.T179= Synonymous 6/11 - 2
X-133547639-C-T c.537C>T p.T179= Synonymous 6/11 - 3
X-133547643-T-C c.541T>C p.S181P Missense 6/11 - 1
X-133547644-C-A c.542C>A p.S181Y Missense 6/11 - 1
X-133547646-A-T c.544A>T p.T182S Missense 6/11 - 1
X-133547650-C-T c.548C>T p.S183F Missense 6/11 - 1
X-133547654-C-A c.552C>A p.S184= Synonymous 6/11 - 1
X-133547654-C-G c.552C>G p.S184= Synonymous 6/11 - 1
X-133547654-C-T c.552C>T p.S184= Synonymous 6/11 - 3
X-133547659-G-A c.557G>A p.G186E Missense 6/11 - 1
X-133547664-G-A c.562G>A p.D188N Missense 6/11 - 1
X-133547666-T-TG c.565dup p.E189Gfs*5 Frameshift 6/11 - 3
X-133547667-G-A c.565G>A p.E189K Missense 6/11 - 2
X-133547667-G-T c.565G>T p.E189* Nonsense 6/11 - 3
X-133547669-A-T c.567A>T p.E189D Missense 6/11 - 1
X-133547672-G-T c.570G>T p.M190I Missense 6/11 - 1
X-133547673-G-A c.571G>A p.E191K Missense 6/11 - 1
X-133547677-G-A c.575G>A p.S192N Missense 6/11 - 2
X-133547678-T-C c.576T>C p.S192= Synonymous 6/11 - 1
X-133547680-G-GC c.578_579insC p.S194Ffs*3 Frameshift 6/11 - 1
X-133547682-T-TC c.582dup p.Y195Lfs*2 Frameshift 6/11 - 1
X-133547686-A-C c.584A>C p.Y195S Missense 6/11 - 1
X-133547687-AT-A c.585del p.Y195* Frameshift 6/11 - 1
X-133547687-T-TAGAGATAGGTCTCCACACAGAAGCAGCCCTAGTGACACCAGGCCTAAATGTGGATTTTGCCATGTAGGGGAG c.585_585+1insAGAGATAGGTCTCCACACAGAAGCAGCCCTAGTGACACCAGGCCTAAATGTGGATTTTGCCATGTAGGGGAG p.R196_E219dup SpliceDonorInsertion - - 1
X-133547688-G-A c.585+1G>A - IntronicSNV - 6/10 4
X-133547689-T-A c.585+2T>A - IntronicSNV - 6/10 1
X-133547692-G-T c.585+5G>T - IntronicSNV - 6/10 1
X-133547693-TA-T c.585+14del - IntronicDeletion - 6/10 1
X-133547814-T-C c.586-39T>C - IntronicSNV - 6/10 1
X-133547852-G-GA c.586dup p.R196Kfs*3 SpliceAcceptorInsertion 7/11 - 1
X-133547853-A-C c.586A>C p.R196= Synonymous 7/11 - 1
X-133547853-AGA-CAT c.586_588delinsCAT p.R196H Missense 7/11 - 1
X-133547853-AGA-TGT c.586_588delinsTGT p.R196C Missense 7/11 - 1
X-133547853-A-T c.586A>T p.R196* Nonsense 7/11 - 1
X-133547854-G-A c.587G>A p.R196K Missense 7/11 - 2
X-133547855-A-AAGAGATAGGTCTCCACACAGAAGCAGCCCTAGTGACACCAGGCCTAAATGTGGATTTTGCCATGTAGGGGAG c.588_589insAGAGATAGGTCTCCACACAGAAGCAGCCCTAGTGACACCAGGCCTAAATGTGGATTTTGCCATGTAGGGGAG p.R196_D197insRDRSPHRSSPSDTRPKCGFCHVGE InFrameInsertion 7/11 - 1
X-133547856-G-A c.589G>A p.D197N Missense 7/11 - 1
X-133547854-GAGAT-G c.590_593del p.D197Gfs*20 Frameshift 7/11 - 1
X-133547859-AGG-CAT c.592_594delinsCAT p.R198H Missense 7/11 - 1
X-133547860-G-A c.593G>A p.R198K Missense 7/11 - 1
X-133547859-AG-A c.594del p.R198Sfs*20 Frameshift 7/11 - 1
X-133547864-T-A c.597T>A p.S199= Synonymous 7/11 - 1
X-133547864-T-C c.597T>C p.S199= Synonymous 7/11 - 1
X-133547864-T-G c.597T>G p.S199= Synonymous 7/11 - 1
X-133547871-AG-CA c.604_605delinsCA p.R202Q Missense 7/11 - 1
X-133547878-G-A c.611G>A p.S204N Missense 7/11 - 3
X-133547879-C-T c.612C>T p.S204= Synonymous 7/11 - 1
X-133547878-GC-G c.614del p.P205Lfs*13 Frameshift 7/11 - 1
X-133547884-G-A c.617G>A p.S206N Missense 7/11 - 1
X-133547886-G-A c.619G>A p.D207N Missense 7/11 - 2
X-133547892-AG-GA c.625_626delinsGA p.R209E Missense 7/11 - 1
X-133547893-G-T c.626G>T p.R209M Missense 7/11 - 1
X-133547894-G-C c.627G>C p.R209S Missense 7/11 - 1
X-133547894-G-T c.627G>T p.R209S Missense 7/11 - 1
X-133547896-C-A c.629C>A p.P210H Missense 7/11 - 1
X-133547896-C-G c.629C>G p.P210R Missense 7/11 - 1
X-133547896-C-T c.629C>T p.P210L Missense 7/11 - 1
X-133547896-C-CT c.630dup p.K211* Nonsense 7/11 - 1
X-133547898-A-G c.631A>G p.K211E Missense 7/11 - 1
X-133547898-A-T c.631A>T p.K211* Nonsense 7/11 - 1
X-133547900-A-G c.633A>G p.K211= Synonymous 7/11 - 1
X-133547901-T-C c.634T>C p.C212R Missense 7/11 - 2
X-133547901-T-G c.634T>G p.C212G Missense 7/11 - 1
X-133547902-G-A c.635G>A p.C212Y Missense 7/11 - 1
X-133547902-G-GGGTCC c.635_636insGGTCC p.C212Wfs*8 Frameshift 7/11 - 1
X-133547907-T-C c.640T>C p.F214L Missense 7/11 - 1
X-133547909-T-A c.642T>A p.F214L Missense 7/11 - 1
X-133547909-T-G c.642T>G p.F214L Missense 7/11 - 1
X-133547910-T-A c.643T>A p.C215S Missense 7/11 - 3
X-133547910-T-C c.643T>C p.C215R Missense 7/11 - 1
X-133547911-G-C c.644G>C p.C215S Missense 7/11 - 3
X-133547911-G-A c.644G>A p.C215Y Missense 7/11 - 2
X-133547911-G-T c.644G>T p.C215F Missense 7/11 - 7
X-133547914-A-C c.647A>C p.H216P Missense 7/11 - 1
X-133547914-A-T c.647A>T p.H216L Missense 7/11 - 1
X-133547919-G-T c.652G>T p.G218W Missense 7/11 - 1
X-133547920-GG-AC c.653_654delinsAC p.G218D Missense 7/11 - 1
X-133547920-GGGAGGAAGAAAATG-CCCTTTAAAGGGA c.653_667delinsCCCTTTAAAGGGA p.G218Afs*3 Frameshift 7/11 - 1
X-133547924-G-C c.657G>C p.E219D Missense 7/11 - 1
X-133547924-G-T c.657G>T p.E219D Missense 7/11 - 1
X-133547925-G-T c.658G>T p.E220* Nonsense 7/11 - 1
X-133547927-A-C c.660A>C p.E220D Missense 7/11 - 1
X-133547927-A-T c.660A>T p.E220D Missense 7/11 - 1
X-133547928-G-T c.661G>T p.E221* Nonsense 7/11 - 6
X-133547934-G-A c.667G>A p.E223K Missense 7/11 - 1
X-133547934-GA-TC c.667_668inv p.E223S Missense 7/11 - 1
X-133547934-G-T c.667G>T p.E223* Nonsense 7/11 - 2
X-133547935-A-T c.668A>T p.E223V Missense 7/11 - 1
X-133547937-G-A c.670G>A p.A224T Missense 7/11 - 1
X-133547938-C-T c.671C>T p.A224V Missense 7/11 - 1
X-133547940-C-T c.673C>T p.R225* Nonsense 7/11 - 31
X-133547941-G-A c.674G>A p.R225Q Missense 7/11 - 1
X-133547942-A-G c.675A>G p.R225= Synonymous 7/11 - 1
X-133547943-G-A c.676G>A p.G226R Missense 7/11 - 3
X-133547942-AG-A c.677del p.G226Efs*53 Frameshift 7/11 - 2
X-133547942-AGGAAAACTGCATATATTTAATGCCAAGAAG-A c.677_706del p.G226_K235del InFrameDeletion 7/11 - 1
X-133547944-G-A c.677G>A p.G226E Missense 7/11 - 1
X-133547949-C-A c.682C>A p.L228M Missense 7/11 - 1
X-133547949-C-T c.682C>T p.L228= Synonymous 7/11 - 1
X-133547949-CTG-ATC c.682_684delinsATC p.L228I Missense 7/11 - 1
X-133547951-GCATATATTTAATGCCAAGAAG-CCC c.684_705delinsCCC p.H229Pfs*44 Frameshift 7/11 - 1
X-133547952-C-T c.685C>T p.H229Y Missense 7/11 - 1
X-133547953-A-G c.686A>G p.H229R Missense 7/11 - 6
X-133547954-T-A c.687T>A p.H229Q Missense 7/11 - 2
X-133547954-T-C c.687T>C p.H229= Synonymous 7/11 - 1
X-133547954-T-G c.687T>G p.H229Q Missense 7/11 - 1
X-133547960-T-TACCGATAACG c.694_695insCCGATAACGA p.N232Tfs*13 Frameshift 7/11 - 1
X-133547961-A-T c.694A>T p.N232Y Missense 7/11 - 1
X-133547962-A-G c.695A>G p.N232S Missense 7/11 - 1
X-133547965-C-A c.698C>A p.A233D Missense 7/11 - 1
X-133547965-C-G c.698C>G p.A233G Missense 7/11 - 2
X-133547967-A-G c.700A>G p.K234E Missense 7/11 - 5
X-133547967-A-T c.700A>T p.K234* Nonsense 7/11 - 1
X-133547969-G-A c.702G>A p.K234= Synonymous 7/11 - 1
X-133547970-A-G c.703A>G p.K235E Missense 7/11 - 3
X-133547970-A-T c.703A>T p.K235* Nonsense 7/11 - 2
X-133547971-A-T c.704A>T p.K235M Missense 7/11 - 1
X-133547973-G-C c.706G>C p.A236P Missense 7/11 - 1
X-133547974-C-CCGATG c.707_708insCGATG p.A237Dfs*44 Frameshift 7/11 - 1
X-133547974-C-T c.707C>T p.A236V Missense 7/11 - 1
X-133547976-G-GC c.710dup p.A238Cfs*4 Frameshift 7/11 - 1
X-133547977-C-A c.710C>A p.A237D Missense 7/11 - 3
X-133547978-T-TTC c.711_712insTC p.A238Sfs*42 Frameshift 7/11 - 1
X-133547979-G-C c.712G>C p.A238P Missense 7/11 - 1
X-133547980-C-T c.713C>T p.A238V Missense 7/11 - 1
X-133547980-C-CCT c.714_715insTC p.H239Sfs*41 Frameshift 7/11 - 1
X-133547981-C-T c.714C>T p.A238= Synonymous 7/11 - 1
X-133547979-G-GC c.715dup p.H239Pfs*3 Frameshift 7/11 - 1
X-133547982-C-G c.715C>G p.H239D Missense 7/11 - 1
X-133547982-C-T c.715C>T p.H239Y Missense 7/11 - 2
X-133547983-A-C c.716A>C p.H239P Missense 7/11 - 2
X-133547983-A-G c.716A>G p.H239R Missense 7/11 - 2
X-133547983-A-ATGGTGGGG c.717_718insGGTGGGGT p.Y240Gfs*42 Frameshift 7/11 - 1
X-133547985-T-TA c.719dup p.Y240* Nonsense 7/11 - 1
X-133547986-A-G c.719A>G p.Y240C Missense 7/11 - 3
X-133547987-AT-A c.720del p.Y240* Frameshift 7/11 - 1
X-133547989-A-G c.722A>G p.K241R Missense 7/11 - 4
X-133547991-T-A c.724T>A p.C242S Missense 7/11 - 2
X-133547991-T-C c.724T>C p.C242R Missense 7/11 - 1
X-133547992-G-C c.725G>C p.C242S Missense 7/11 - 2
X-133547992-G-A c.725G>A p.C242Y Missense 7/11 - 6
X-133547992-G-T c.725G>T p.C242F Missense 7/11 - 1
X-133547993-C-T c.726C>T p.C242= Synonymous 7/11 - 1
X-133547994-A-T c.727A>T p.M243L Missense 7/11 - 1
X-133547995-T-G c.728T>G p.M243R Missense 7/11 - 1
X-133547996-G-A c.729G>A p.M243I Missense 7/11 - 1
X-133549046-T-TTC c.731_732insCT p.L244Ffs*36 SpliceAcceptorInsertion 8/11 - 1
X-133549044-AGTT-A c.732_734del p.L244del InFrameDeletion 8/11 - 1
X-133549046-TTG-T c.732_733del p.L244Ffs*20 SpliceAcceptorDeletion 8/11 - 1
X-133549051-T-C c.735T>C p.F245= Synonymous 8/11 - 1
X-133549052-T-TTC c.736_737insTC p.S246Ffs*34 Frameshift 8/11 - 1
X-133549053-C-G c.737C>G p.S246C Missense 8/11 - 2
X-133549053-C-T c.737C>T p.S246F Missense 8/11 - 3
X-133549056-C-A c.740C>A p.S247Y Missense 8/11 - 2
X-133549056-C-T c.740C>T p.S247F Missense 8/11 - 1
X-133549058-G-T c.742G>T p.G248C Missense 8/11 - 3
X-133549059-G-A c.743G>A p.G248D Missense 8/11 - 3
X-133549062-C-A c.746C>A p.T249K Missense 8/11 - 3
X-133549062-C-T c.746C>T p.T249I Missense 8/11 - 2
X-133549063-A-G c.747A>G p.T249= Synonymous 8/11 - 1
X-133549064-G-A c.748G>A p.V250I Missense 8/11 - 1
X-133549067-C-T c.751C>T p.Q251* Nonsense 8/11 - 2
X-133549068-A-G c.752A>G p.Q251R Missense 8/11 - 1
X-133549068-A-T c.752A>T p.Q251L Missense 8/11 - 1
X-133549069-G-C c.753G>C p.Q251H Missense 8/11 - 2
X-133549069-G-T c.753G>T p.Q251H Missense 8/11 - 4
X-133549071-T-C c.755T>C p.L252P Missense 8/11 - 1
X-133549077-C-A c.761C>A p.T254K Missense 8/11 - 1
X-133549072-CACA-C c.763_765del p.T255del InFrameDeletion 8/11 - 1
X-133549083-C-G c.767C>G p.S256* Nonsense 8/11 - 3
X-133549083-CA-C c.769del p.R257Efs*22 Frameshift 8/11 - 1
X-133549085-A-G c.769A>G p.R257G Missense 8/11 - 8
X-133549085-A-T c.769A>T p.R257* Nonsense 8/11 - 1
X-133549086-G-A c.770G>A p.R257K Missense 8/11 - 1
X-133549086-G-T c.770G>T p.R257I Missense 8/11 - 1
X-133549088-G-A c.772G>A p.A258T Missense 8/11 - 1
X-133549089-GC-G c.773del p.A258Efs*21 Frameshift 8/11 - 1
X-133549091-G-T c.775G>T p.E259* Nonsense 8/11 - 3
X-133549092-A-T c.776A>T p.E259V Missense 8/11 - 1
X-133549095-T-TCGGGAGGATCC c.779_780insCGGGAGGATCC p.D262Rfs*21 Frameshift 8/11 - 2
X-133549099-A-AT c.783_784insT p.D262* Nonsense 8/11 - 1
X-133549100-G-A c.784G>A p.D262N Missense 8/11 - 2
X-133549100-G-C c.784G>C p.D262H Missense 8/11 - 2
X-133549101-A-AAACCC c.785_786insAACCC p.D262Efs*19 Frameshift 8/11 - 1
X-133549102-C-A c.786C>A p.D262E Missense 8/11 - 2
X-133549102-C-T c.786C>T p.D262= Synonymous 8/11 - 1
X-133549103-T-C c.787T>C p.F263L Missense 8/11 - 1
X-133549102-C-CT c.789dup p.D264* Nonsense 8/11 - 1
X-133549105-T-TGGCCCCTAAG c.790_791insGCCCCTAAGG p.D264Gfs*3 Frameshift 8/11 - 1
X-133549106-G-A c.790G>A p.D264N Missense 8/11 - 1
X-133549106-G-C c.790G>C p.D264H Missense 8/11 - 2
X-133549107-A-G c.791A>G p.D264G Missense 8/11 - 1
X-133549108-T-TC c.792_793insC p.I265Hfs*2 Frameshift 8/11 - 3
X-133549112-A-G c.796A>G p.K266E Missense 8/11 - 3
X-133549116-CTG-C c.802_803del p.V268Tfs*5 Frameshift 8/11 - 1
X-133549118-G-C c.802G>C p.V268L Missense 8/11 - 2
X-133549118-G-T c.802G>T p.V268L Missense 8/11 - 1
X-133549119-T-C c.803T>C p.V268A Missense 8/11 - 2
X-133549121-C-A c.805C>A p.L269I Missense 8/11 - 1
X-133549123-T-TGA c.807_808insGA p.Q270Dfs*10 Frameshift 8/11 - 1
X-133549124-C-T c.808C>T p.Q270* Nonsense 8/11 - 3
X-133549126-G-A c.810G>A p.Q270= Synonymous 8/11 - 1
X-133549127-G-A c.811G>A p.E271K Missense 8/11 - 1
X-133549127-G-T c.811G>T p.E271* Nonsense 8/11 - 1
X-133549133-A-G c.817A>G p.K273E Missense 8/11 - 1
X-133549133-A-T c.817A>T p.K273* Nonsense 8/11 - 2
X-133549134-A-G c.818A>G p.K273R Missense 8/11 - 1
X-133549132-TA-T c.819del p.K273Nfs*6 Frameshift 8/11 - 1
X-133549136-C-T c.820C>T p.R274* Nonsense 8/11 - 41
X-133549137-G-A c.821G>A p.R274Q Missense 8/11 - 26
X-133549139-G-A c.823G>A p.G275R Missense 8/11 - 7
X-133549139-G-C c.823G>C p.G275R Missense 8/11 - 2
X-133549139-G-T c.823G>T p.G275* Nonsense 8/11 - 1
X-133549140-G-A c.824G>A p.G275E Missense 8/11 - 4
X-133549140-G-T c.824G>T p.G275V Missense 8/11 - 2
X-133549142-A-G c.826A>G p.K276E Missense 8/11 - 1
X-133549145-A-G c.829A>G p.R277G Missense 8/11 - 2
X-133549146-G-T c.830G>T p.R277I Missense 8/11 - 1
X-133549148-AT-GC c.832_833delinsGC p.M278A Missense 8/11 - 1
X-133549149-TG-GC c.833_834delinsGC p.M278S Missense 8/11 - 1
X-133549150-G-A c.834G>A p.M278I Missense 8/11 - 1
X-133549150-G-C c.834G>C p.M278I Missense 8/11 - 1
X-133549150-G-T c.834G>T p.M278I Missense 8/11 - 1
X-133549152-T-G c.834+2T>G - IntronicSNV - 8/10 1
X-133549164-A-G c.834+14A>G - IntronicSNV - 8/10 1
X-133549178-A-G c.834+28A>G - IntronicSNV - 8/10 1
X-133549224-T-G c.834+74T>G - IntronicSNV - 8/10 1
X-133549241-A-C c.834+91A>C - IntronicSNV - 8/10 1
X-133549255-C-T c.834+105C>T - IntronicSNV - 8/10 1
X-133549266-G-A c.834+116G>A - IntronicSNV - 8/10 1
X-133551135-C-T c.835-64C>T - IntronicSNV - 8/10 1
X-133551199-A-T c.835A>T p.K279* Nonsense 9/11 - 1
X-133551198-GA-G c.837del p.K279Nfs*16 Frameshift 9/11 - 2
X-133551202-T-C c.838T>C p.C280R Missense 9/11 - 1
X-133551202-T-G c.838T>G p.C280G Missense 9/11 - 1
X-133551202-T-TGG c.839_840insGG p.C280Wfs*16 Frameshift 9/11 - 1
X-133551203-G-A c.839G>A p.C280Y Missense 9/11 - 7
X-133551204-T-A c.840T>A p.C280* Nonsense 9/11 - 1
X-133551204-T-G c.840T>G p.C280W Missense 9/11 - 2
X-133551204-TAC-T c.843_844del p.C283Qfs*10 Frameshift 9/11 - 1
X-133551209-T-C c.845T>C p.L282P Missense 9/11 - 1
X-133551211-T-A c.847T>A p.C283S Missense 9/11 - 1
X-133551211-T-C c.847T>C p.C283R Missense 9/11 - 4
X-133551213-C-A c.849C>A p.C283* Nonsense 9/11 - 1
X-133551215-G-A c.851G>A p.S284N Missense 9/11 - 1
X-133551216-T-C c.852T>C p.S284= Synonymous 9/11 - 1
X-133551217-C-A c.853C>A p.Q285K Missense 9/11 - 1
X-133551217-C-T c.853C>T p.Q285* Nonsense 9/11 - 3
X-133551220-C-T c.856C>T p.P286S Missense 9/11 - 1
X-133551223-G-A c.859G>A p.G287S Missense 9/11 - 3
X-133551223-G-C c.859G>C p.G287R Missense 9/11 - 1
X-133551224-G-A c.860G>A p.G287D Missense 9/11 - 2
X-133551224-G-T c.860G>T p.G287V Missense 9/11 - 5
X-133551226-G-A c.862G>A p.A288T Missense 9/11 - 3
X-133551229-A-G c.865A>G p.T289A Missense 9/11 - 4
X-133551230-C-A c.866C>A p.T289N Missense 9/11 - 2
X-133551230-CTAT-C c.868_870del p.I290del InFrameDeletion 9/11 - 1
X-133551233-T-A c.869T>A p.I290N Missense 9/11 - 1
X-133551233-T-C c.869T>C p.I290T Missense 9/11 - 1
X-133551235-G-T c.871G>T p.G291* Nonsense 9/11 - 2
X-133551236-G-A c.872G>A p.G291E Missense 9/11 - 3
X-133551237-A-C c.873A>C p.G291= Synonymous 9/11 - 1
X-133551237-A-G c.873A>G p.G291= Synonymous 9/11 - 1
X-133551237-A-T c.873A>T p.G291= Synonymous 9/11 - 1
X-133551238-T-A c.874T>A p.C292S Missense 9/11 - 3
X-133551239-G-C c.875G>C p.C292S Missense 9/11 - 3
X-133551239-G-A c.875G>A p.C292Y Missense 9/11 - 4
X-133551241-G-A c.877G>A p.E293K Missense 9/11 - 1
X-133551241-G-T c.877G>T p.E293* Nonsense 9/11 - 3
X-133551242-A-G c.878A>G p.E293G Missense 9/11 - 1
X-133551245-T-C c.881T>C p.I294T Missense 9/11 - 1
X-133551245-T-G c.881T>G p.I294R Missense 9/11 - 1
X-133551244-ATAAAAGCCTGTGTTAAGAC-A c.882_900del p.K295Tfs*50 Frameshift 9/11 - 1
X-133551246-A-G c.882A>G p.I294M Missense 9/11 - 2
X-133551249-A-T c.885A>T p.K295N Missense 9/11 - 1
X-133551250-G-C c.886G>C p.A296P Missense 9/11 - 1
X-133551252-C-T c.888C>T p.A296= Synonymous 9/11 - 3
X-133551253-T-A c.889T>A p.C297S Missense 9/11 - 3
X-133551253-T-C c.889T>C p.C297R Missense 9/11 - 3
X-133551254-G-C c.890G>C p.C297S Missense 9/11 - 2
X-133551254-G-A c.890G>A p.C297Y Missense 9/11 - 2
X-133551254-G-T c.890G>T p.C297F Missense 9/11 - 1
X-133551255-T-G c.891T>G p.C297W Missense 9/11 - 1
X-133551256-G-GT c.894dup p.K299* Nonsense 9/11 - 1
X-133551259-A-T c.895A>T p.K299* Nonsense 9/11 - 1
X-133551261-G-T c.897G>T p.K299N Missense 9/11 - 2
X-133551262-A-C c.898A>C p.T300P Missense 9/11 - 1
X-133551262-A-G c.898A>G p.T300A Missense 9/11 - 5
X-133551262-GACTTA-G c.898_902del p.T300Pfs*11 Frameshift 9/11 - 1
X-133551265-T-TGGGGGGA c.901_902insGGGGGGA p.Y301Wfs*14 Frameshift 9/11 - 1
X-133551265-T-TA c.902dup p.Y301* Nonsense 9/11 - 3
X-133551265-T-TATGGGAGGCGG c.902_903insTGGGAGGCGGA p.H302Gfs*53 Frameshift 9/11 - 1
X-133551266-A-C c.902A>C p.Y301S Missense 9/11 - 1
X-133551266-A-G c.902A>G p.Y301C Missense 9/11 - 2
X-133551267-ACC-A c.903_904del p.Y301* Frameshift 9/11 - 1
X-133551267-C-A c.903C>A p.Y301* Nonsense 9/11 - 10
X-133551267-C-G c.903C>G p.Y301* Nonsense 9/11 - 4
X-133551267-C-T c.903C>T p.Y301= Synonymous 9/11 - 3
X-133551268-C-A c.904C>A p.H302N Missense 9/11 - 1
X-133551268-C-T c.904C>T p.H302Y Missense 9/11 - 3
X-133551269-A-C c.905A>C p.H302P Missense 9/11 - 1
X-133551269-A-G c.905A>G p.H302R Missense 9/11 - 4
X-133551269-A-T c.905A>T p.H302L Missense 9/11 - 3
X-133551270-T-G c.906T>G p.H302Q Missense 9/11 - 1
X-133551271-T-G c.907T>G p.Y303D Missense 9/11 - 1
X-133551272-A-G c.908A>G p.Y303C Missense 9/11 - 1
X-133551273-C-A c.909C>A p.Y303* Nonsense 9/11 - 5
X-133551273-C-G c.909C>G p.Y303* Nonsense 9/11 - 5
X-133551274-C-T c.910C>T p.H304Y Missense 9/11 - 2
X-133551276-C-G c.912C>G p.H304Q Missense 9/11 - 1
X-133551278-G-A c.914G>A p.C305Y Missense 9/11 - 1
X-133551278-G-T c.914G>T p.C305F Missense 9/11 - 3
X-133551279-T-A c.915T>A p.C305* Nonsense 9/11 - 1
X-133551279-TG-AA c.915_916delinsAA p.C305_G306delins* MultiAAMissense 9/11 - 1
X-133551280-G-A c.916G>A p.G306R Missense 9/11 - 3
X-133551280-G-C c.916G>C p.G306R Missense 9/11 - 2
X-133551280-G-T c.916G>T p.G306* Nonsense 9/11 - 1
X-133551281-G-T c.917G>T p.G306V Missense 9/11 - 1
X-133551286-C-T c.922C>T p.Q308* Nonsense 9/11 - 3
X-133551288-A-T c.924A>T p.Q308H Missense 9/11 - 1
X-133551289-G-C c.925G>C p.D309H Missense 9/11 - 1
X-133551292-A-C c.928A>C p.K310Q Missense 9/11 - 1
X-133551293-A-T c.929A>T p.K310I Missense 9/11 - 1
X-133551295-G-A c.931G>A p.A311T Missense 9/11 - 1
X-133551295-G-C c.931G>C p.A311P Missense 9/11 - 3
X-133551295-GCT-TAA c.931_933delinsTAA p.A311* Nonsense 9/11 - 2
X-133551295-G-T c.931G>T p.A311S Missense 9/11 - 1
X-133551296-C-G c.932C>G p.A311G Missense 9/11 - 1
X-133551296-C-T c.932C>T p.A311V Missense 9/11 - 1
X-133551296-C-CT c.933dup p.K312* Nonsense 9/11 - 1
X-133551301-T-A c.937T>A p.Y313N Missense 9/11 - 1
X-133551302-A-G c.938A>G p.Y313C Missense 9/11 - 2
X-133551303-C-A c.939C>A p.Y313* Nonsense 9/11 - 1
X-133551303-C-G c.939C>G p.Y313* Nonsense 9/11 - 1
X-133551304-A-G c.940A>G p.I314V Missense 9/11 - 5
X-133551305-T-A c.941T>A p.I314N Missense 9/11 - 1
X-133551305-T-C c.941T>C p.I314T Missense 9/11 - 12
X-133551307-G-T c.943G>T p.E315* Nonsense 9/11 - 1
X-133551310-A-T c.946A>T p.N316Y Missense 9/11 - 1
X-133551311-A-G c.947A>G p.N316S Missense 9/11 - 1
X-133551315-G-T c.951G>T p.M317I Missense 9/11 - 1
X-133551317-CA-TT c.953_954delinsTT p.S318F Missense 9/11 - 2
X-133551317-C-T c.953C>T p.S318L Missense 9/11 - 1
X-133551317-C-CA c.954dup p.R319Tfs*9 Frameshift 9/11 - 1
X-133551318-A-G c.954A>G p.S318= Synonymous 9/11 - 2
X-133551319-AC-A c.955del p.R319Efs*32 Frameshift 9/11 - 1
X-133551319-C-T c.955C>T p.R319* Nonsense 9/11 - 27
X-133551320-G-A c.956G>A p.R319Q Missense 9/11 - 2
X-133551320-G-T c.956G>T p.R319L Missense 9/11 - 1
X-133551321-A-AGT c.958_959insTG p.G320Vfs*32 Frameshift 9/11 - 1
X-133551322-G-A c.958G>A p.G320R Missense 9/11 - 2
X-133551322-G-C c.958G>C p.G320R Missense 9/11 - 3
X-133551322-G-T c.958G>T p.G320* Nonsense 9/11 - 1
X-133551325-A-T c.961A>T p.I321F Missense 9/11 - 1
X-133551327-T-G c.963T>G p.I321M Missense 9/11 - 1
X-133551325-AT-A c.964del p.Y322Tfs*29 Frameshift 9/11 - 1
X-133551328-T-G c.964T>G p.Y322D Missense 9/11 - 1
X-133551329-A-G c.965A>G p.Y322C Missense 9/11 - 1
X-133551330-C-A c.966C>A p.Y322* Nonsense 9/11 - 2
X-133551330-C-G c.966C>G p.Y322* Nonsense 9/11 - 2
X-133551331-A-G c.967A>G p.K323E Missense 9/11 - 2
X-133551333-G-A c.968+1G>A - IntronicSNV - 9/10 3
X-133551405-T-A c.968+73T>A - IntronicSNV - 9/10 1
X-133553071-A-G c.968+1739A>G - IntronicSNV - 9/10 1
X-133559233-T-C c.971T>C p.L324P Missense 10/11 - 1
X-133559233-T-G c.971T>G p.L324R Missense 10/11 - 1
X-133559234-A-G c.972A>G p.L324= Synonymous 10/11 - 1
X-133559235-T-C c.973T>C p.Y325H Missense 10/11 - 5
X-133559236-A-G c.974A>G p.Y325C Missense 10/11 - 1
X-133559238-T-C c.976T>C p.C326R Missense 10/11 - 4
X-133559239-G-A c.977G>A p.C326Y Missense 10/11 - 1
X-133559239-G-T c.977G>T p.C326F Missense 10/11 - 1
X-133559240-T-C c.978T>C p.C326= Synonymous 10/11 - 1
X-133559244-A-T c.982A>T p.N328Y Missense 10/11 - 6
X-133559240-TA-T c.983del p.N328Ifs*23 Frameshift 10/11 - 2
X-133559240-T-TA c.983dup p.N328Kfs*3 Frameshift 10/11 - 1
X-133559246-T-A c.984T>A p.N328K Missense 10/11 - 1
X-133559246-T-G c.984T>G p.N328K Missense 10/11 - 1
X-133559246-T-TAG c.984_985insAG p.H329Sfs*23 Frameshift 10/11 - 1
X-133559246-T-TCTGTAATAAA c.985_986insTGTAATAAAC p.H329Lfs*2 Frameshift 10/11 - 1
X-133559247-CA-GC c.985_986delinsGC p.H329A Missense 10/11 - 1
X-133559248-A-G c.986A>G p.H329R Missense 10/11 - 7
X-133559248-A-T c.986A>T p.H329L Missense 10/11 - 2
X-133559248-CA-C c.986del p.H329Lfs*22 Frameshift 10/11 - 1
X-133559249-T-A c.987T>A p.H329Q Missense 10/11 - 1
X-133559253-G-A c.991G>A p.G331R Missense 10/11 - 2
X-133559255-A-C c.993A>C p.G331= Synonymous 10/11 - 1
X-133559255-A-G c.993A>G p.G331= Synonymous 10/11 - 1
X-133559255-A-T c.993A>T p.G331= Synonymous 10/11 - 1
X-133559257-A-AT c.996dup p.D333* Nonsense 10/11 - 2
X-133559259-G-A c.997G>A p.D333N Missense 10/11 - 1
X-133559259-G-T c.997G>T p.D333Y Missense 10/11 - 1
X-133559256-AATG-A c.999_1001del p.D333del InFrameDeletion 10/11 - 5
X-133559262-G-A c.1000G>A p.E334K Missense 10/11 - 2
X-133559262-G-C c.1000G>C p.E334Q Missense 10/11 - 2
X-133559262-TGAGAG-T c.1000_1004del p.E334Rfs*2 Frameshift 10/11 - 1
X-133559264-G-GT c.1002_1003insT p.R335* Nonsense 10/11 - 1
X-133559264-G-GA c.1003dup p.R335Kfs*3 Frameshift 10/11 - 1
X-133559265-GAGAGA-G c.1003_1007del p.R335* Frameshift 10/11 - 1
X-133559266-G-A c.1004G>A p.R335K Missense 10/11 - 2
X-133559267-A-AT c.1005_1006insT p.D336* Nonsense 10/11 - 1
X-133559271-G-T c.1009G>T p.E337* Nonsense 10/11 - 1
X-133559274-G-A c.1012G>A p.E338K Missense 10/11 - 2
X-133559270-TGAA-T c.1014_1016del p.E338del InFrameDeletion 10/11 - 1
X-133559277-G-A c.1015G>A p.D339N Missense 10/11 - 2
X-133559282-G-C c.1020G>C p.E340D Missense 10/11 - 1
X-133559284-A-G c.1022A>G p.E341G Missense 10/11 - 1
X-133559286-C-A c.1024C>A p.R342= Synonymous 10/11 - 1
X-133559286-C-T c.1024C>T p.R342* Nonsense 10/11 - 28
X-133559291-G-T c.1029G>T p.E343D Missense 10/11 - 1
X-133559293-G-C c.1031G>C p.S344T Missense 10/11 - 1
X-133559297-A-AT c.1035_1036insT p.S346* Nonsense 10/11 - 1
X-133559298-A-G c.1036A>G p.S346G Missense 10/11 - 2
X-133559301-C-T c.1039C>T p.R347* Nonsense 10/11 - 5
X-133559304-G-T c.1042G>T p.G348* Nonsense 10/11 - 1
X-133559305-G-A c.1043G>A p.G348E Missense 10/11 - 1
X-133559307-A-G c.1045A>G p.K349E Missense 10/11 - 1
X-133559310-G-C c.1048G>C p.V350L Missense 10/11 - 1
X-133559310-G-T c.1048G>T p.V350L Missense 10/11 - 1
X-133559313-G-T c.1051G>T p.E351* Nonsense 10/11 - 1
X-133559320-A-G c.1058A>G p.D353G Missense 10/11 - 1
X-133559320-A-AT c.1059dup p.Q354Sfs*10 Frameshift 10/11 - 1
X-133559323-A-G c.1061A>G p.Q354R Missense 10/11 - 1
X-133559325-C-T c.1063C>T p.Q355* Nonsense 10/11 - 1
X-133559328-C-T c.1066C>T p.Q356* Nonsense 10/11 - 1
X-133559329-A-T c.1067A>T p.Q356L Missense 10/11 - 2
X-133559331-C-G c.1069C>G p.L357V Missense 10/11 - 1
X-133559336-T-G c.1074T>G p.T358= Synonymous 10/11 - 1
X-133559338-A-G c.1076A>G p.Q359R Missense 10/11 - 1
X-133559343-C-T c.1081C>T p.Q361* Nonsense 10/11 - 1
X-133559344-A-C c.1082A>C p.Q361P Missense 10/11 - 2
X-133559350-A-G c.1088A>G p.N363S Missense 10/11 - 1
X-133559352-G-A c.1090G>A p.G364R Missense 10/11 - 1
X-133559352-G-C c.1090G>C p.G364R Missense 10/11 - 1
X-133559352-G-T c.1090G>T p.G364* Nonsense 10/11 - 1
X-133559798-C-CAA c.*439_*440dup - 3-UTRInsertion 11/11 - 1
X-133559798-C-CA c.*440dup - 3-UTRInsertion 11/11 - 1
X-133559971-A-G c.*611A>G - 3-UTRSNV 11/11 - 3
X-133560301-A-G c.*611A>G - 3-UTRSNV 11/11 - 1
X-133560912-G-A c.*1552G>A - 3-UTRSNV 11/11 - 2
X-133561242-G-A c.*1552G>A - 3-UTRSNV 11/11 - 2
X-133561550-G-A c.*1860G>A - 3_prime_UTR_variant 11/11 - 1