NF1 neurofibromin 1

Annotation transcript: NM_001042492.3

3069 unique variant annotations were identified in 1368 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
17-29422083-C-T c.-245C>T - 5-UTRSNV 1/58 - 1
17-29422328-A-C c.1A>C p.M1? Missense 1/58 - 1
17-29422328-A-G c.1A>G p.M1? Missense 1/58 - 1
17-29422329-T-C c.2T>C p.M1? Missense 1/58 - 1
17-29422330-G-C c.3G>C p.M1? Missense 1/58 - 1
17-29422332-C-T c.5C>T p.A2V Missense 1/58 - 1
17-29422333-C-T c.6C>T p.A2= Synonymous 1/58 - 1
17-29422334-G-T c.7G>T p.A3S Missense 1/58 - 1
17-29422346-G-T c.19G>T p.V7L Missense 1/58 - 1
17-29422347-T-G c.20T>G p.V7G Missense 1/58 - 1
17-29422348-TGG-T c.21_22del p.E8Mfs*29 Frameshift 1/58 - 1
17-29422351-A-G c.24A>G p.E8= Synonymous 1/58 - 1
17-29422351-A-C c.24A>C p.E8D Missense 1/58 - 1
17-29422352-T-G c.25T>G p.W9G Missense 1/58 - 1
17-29422353-G-A c.26G>A p.W9* Nonsense 1/58 - 1
17-29422354-G-A c.27G>A p.W9* Nonsense 1/58 - 1
17-29422358-CCAG-C c.31_33del p.Q11del InFrameDeletion 1/58 - 1
17-29422358-C-T c.31C>T p.Q11* Nonsense 1/58 - 1
17-29422361-G-T c.34G>T p.A12S Missense 1/58 - 1
17-29422361-GC-CT c.34_35delinsCT p.A12L Missense 1/58 - 1
17-29422361-GCC-ATG c.34_36delinsATG p.A12M Missense 1/58 - 1
17-29422361-GCC-CAA c.34_36delinsCAA p.A12Q Missense 1/58 - 1
17-29422361-G-A c.34G>A p.A12T Missense 1/58 - 1
17-29422361-GCC-TGG c.34_36delinsTGG p.A12W Missense 1/58 - 1
17-29422361-GC-TA c.34_35delinsTA p.A12Y Missense 1/58 - 1
17-29422361-GC-CA c.34_35delinsCA p.A12H Missense 1/58 - 1
17-29422362-C-A c.35C>A p.A12D Missense 1/58 - 2
17-29422362-C-T c.35C>T p.A12V Missense 1/58 - 1
17-29422363-CCGTG-C c.36_39del p.V13Sfs*10 Frameshift 1/58 - 1
17-29422363-C-A c.36C>A p.A12= Synonymous 1/58 - 2
17-29422363-C-G c.36C>G p.A12= Synonymous 1/58 - 2
17-29422363-C-T c.36C>T p.A12= Synonymous 1/58 - 2
17-29422364-G-C c.37G>C p.V13L Missense 1/58 - 1
17-29422367-G-A c.40G>A p.V14I Missense 1/58 - 2
17-29422369-C-CT c.42_43insT p.S15* Nonsense 1/58 - 1
17-29422370-AG-GC c.43_44delinsGC p.S15A Missense 1/58 - 4
17-29422370-A-G c.43A>G p.S15G Missense 1/58 - 2
17-29422370-AG-TT c.43_44delinsTT p.S15F Missense 1/58 - 2
17-29422370-A-T c.43A>T p.S15C Missense 1/58 - 2
17-29422370-AG-CA c.43_44delinsCA p.S15H Missense 1/58 - 1
17-29422370-AGC-GAG c.43_45delinsGAG p.S15E Missense 1/58 - 1
17-29422370-AG-GA c.43_44delinsGA p.S15D Missense 1/58 - 1
17-29422371-GC-AG c.44_45delinsAG p.S15K Missense 1/58 - 1
17-29422371-G-A c.44G>A p.S15N Missense 1/58 - 1
17-29422373-C-T c.46C>T p.R16C Missense 1/58 - 1
17-29422379-GA-TT c.52_53delinsTT p.D18F Missense 1/58 - 1
17-29422382-G-T c.55G>T p.E19* Nonsense 1/58 - 3
17-29422382-CGAG-C c.55_57del p.E19del InFrameDeletion 1/58 - 4
17-29422388-G-A c.60+1G>A - IntronicSNV - 1/57 1
17-29422388-G-C c.60+1G>C - IntronicSNV - 1/57 1
17-29422391-A-C c.60+4A>C - IntronicSNV - 1/57 1
17-29422861-A-T c.60+474A>T - IntronicSNV - 1/57 1
17-29423989-A-G c.60+1602A>G - IntronicSNV - 1/57 1
17-29431030-CA-C c.60+8651del - IntronicDeletion - 1/57 1
17-29431418-GAAGTT-G c.60+9031_60+9035del - IntronicDeletion - 1/57 1
17-29443614-A-G c.60+21227A>G - IntronicSNV - 1/57 1
17-29443614-A-T c.60+21227A>T - IntronicSNV - 1/57 1
17-29466722-G-A c.61-16279G>A - IntronicSNV - 1/57 1
17-29480217-T-C c.61-2784T>C - IntronicSNV - 1/57 1
17-29480295-C-T c.61-2706C>T - IntronicSNV - 1/57 1
17-29482381-G-A c.61-620G>A - IntronicSNV - 1/57 1
17-29482458-C-T c.61-543C>T - IntronicSNV - 1/57 1
17-29482878-G-A c.61-123G>A - IntronicSNV - 1/57 1
17-29482988-C-A c.61-13C>A - IntronicSNV - 1/57 1
17-29482988-C-T c.61-13C>T - IntronicSNV - 1/57 1
17-29482998-C-T c.61-3C>T - IntronicSNV - 1/57 1
17-29483001-GCTTCCAATAAAAACAGGACAGCAGAACACACATACCAAAGTCAGTACTGAGCACAACAA-G c.61_119del p.L21Gfs*26 InFrameDeletion 2/58 - 1
17-29483002-T-G c.62T>G p.L21R Missense 2/58 - 1
17-29483002-T-C c.62T>C p.L21P Missense 2/58 - 1
17-29483004-TCC-T c.64_65del p.P22Nfs*15 Frameshift 2/58 - 1
17-29483007-A-T c.67A>T p.I23L Missense 2/58 - 1
17-29483014-C-A c.74C>A p.T25K Missense 2/58 - 1
17-29483017-G-C c.77G>C p.G26A Missense 2/58 - 1
17-29483018-A-T c.78A>T p.G26= Synonymous 2/58 - 1
17-29483021-G-T c.81G>T p.Q27H Missense 2/58 - 1
17-29483022-C-T c.82C>T p.Q28* Nonsense 2/58 - 3
17-29483022-CAG-GAC c.82_84delinsGAC p.Q28D Missense 2/58 - 4
17-29483024-G-T c.84G>T p.Q28H Missense 2/58 - 1
17-29483024-G-C c.84G>C p.Q28H Missense 2/58 - 1
17-29483023-A-AG c.84dup p.N29Efs*9 Frameshift 2/58 - 1
17-29483028-A-G c.88A>G p.T30A Missense 2/58 - 1
17-29483025-AAC-A c.91_92del p.H31Yfs*6 Frameshift 2/58 - 3
17-29483033-T-TA c.94dup p.T32Nfs*6 Frameshift 2/58 - 1
17-29483035-C-CGTAT c.95_96insGTAT p.K33Yfs*6 Frameshift 2/58 - 1
17-29483037-A-T c.97A>T p.K33* Nonsense 2/58 - 1
17-29483039-A-G c.99A>G p.K33= Synonymous 2/58 - 1
17-29483036-CA-C c.99del p.V34Sfs*10 Frameshift 2/58 - 1
17-29483040-G-C c.100G>C p.V34L Missense 2/58 - 1
17-29483040-GT-AG c.100_101delinsAG p.V34S Missense 2/58 - 1
17-29483054-CA-C c.116del p.N39Tfs*5 Frameshift 2/58 - 1
17-29483061-GAA-TTT c.121_123delinsTTT p.E41F Missense 2/58 - 1
17-29483061-GAA-TGT c.121_123delinsTGT p.E41C Missense 2/58 - 2
17-29483062-A-T c.122A>T p.E41V Missense 2/58 - 2
17-29483060-GGAATGTCTAATCAATATTTCCAAATACAAGTTTTCTTTGGTTATAA-G c.122_167del p.E41Afs*7 Frameshift 2/58 - 1
17-29483062-A-C c.122A>C p.E41A Missense 2/58 - 1
17-29483064-TG-GA c.124_125delinsGA p.C42D Missense 2/58 - 1
17-29483064-T-A c.124T>A p.C42S Missense 2/58 - 1
17-29483065-G-C c.125G>C p.C42S Missense 2/58 - 1
17-29483065-G-A c.125G>A p.C42Y Missense 2/58 - 2
17-29483065-G-T c.125G>T p.C42F Missense 2/58 - 1
17-29483070-ATCAATATT-A c.133_140del p.N45Qfs*19 Frameshift 2/58 - 1
17-29483074-A-G c.134A>G p.N45S Missense 2/58 - 1
17-29483075-T-C c.135T>C p.N45= Synonymous 2/58 - 1
17-29483078-T-G c.138T>G p.I46M Missense 2/58 - 1
17-29483082-A-G c.142A>G p.K48E Missense 2/58 - 1
17-29483083-A-G c.143A>G p.K48R Missense 2/58 - 1
17-29483085-T-C c.145T>C p.Y49H Missense 2/58 - 1
17-29483085-T-TA c.146dup p.Y49* Nonsense 2/58 - 1
17-29483087-C-G c.147C>G p.Y49* Nonsense 2/58 - 1
17-29483087-AC-A c.147del p.Y49* Frameshift 2/58 - 1
17-29483091-T-G c.151T>G p.F51V Missense 2/58 - 1
17-29483093-T-C c.153T>C p.F51= Synonymous 2/58 - 1
17-29483095-C-T c.155C>T p.S52F Missense 2/58 - 2
17-29483097-T-C c.157T>C p.L53= Synonymous 2/58 - 1
17-29483099-G-A c.159G>A p.L53= Synonymous 2/58 - 1
17-29483099-G-T c.159G>T p.L53F Missense 2/58 - 1
17-29483099-G-C c.159G>C p.L53F Missense 2/58 - 1
17-29483108-C-T c.168C>T p.S56= Synonymous 2/58 - 4
17-29483109-G-A c.169G>A p.G57S Missense 2/58 - 3
17-29483110-G-A c.170G>A p.G57D Missense 2/58 - 1
17-29483113-T-G c.173T>G p.L58R Missense 2/58 - 1
17-29483118-AC-TG c.178_179delinsTG p.T60C Missense 2/58 - 1
17-29483119-C-T c.179C>T p.T60I Missense 2/58 - 2
17-29483114-CACT-C c.179_181del p.T60del InFrameDeletion 2/58 - 1
17-29483121-A-G c.181A>G p.I61V Missense 2/58 - 1
17-29483121-A-AT c.185dup p.L62Ffs*5 Frameshift 2/58 - 1
17-29483121-AT-A c.185del p.L62* Frameshift 2/58 - 2
17-29483128-A-AT c.188_189insT p.K63Nfs*4 Frameshift 2/58 - 1
17-29483130-AA-GC c.190_191delinsGC p.N64A Missense 2/58 - 1
17-29483137-A-G c.197A>G p.N66S Missense 2/58 - 1
17-29483138-C-G c.198C>G p.N66K Missense 2/58 - 1
17-29483138-C-A c.198C>A p.N66K Missense 2/58 - 1
17-29483144-G-T c.204G>T p.M68I Missense 2/58 - 1
17-29483145-G-T c.204+1G>T - IntronicSNV - 2/57 4
17-29483145-G-A c.204+1G>A - IntronicSNV - 2/57 7
17-29483146-T-G c.204+2T>G - IntronicSNV - 2/57 1
17-29483231-G-C c.204+87G>C - IntronicSNV - 2/57 1
17-29483291-G-C c.204+147G>C - IntronicSNV - 2/57 1
17-29486022-T-A c.205-6T>A - IntronicSNV - 2/57 1
17-29486028-GAGAATATTTGGAGAAGCTGCTGAAAAAAATTTATATCTCTCTCAGTTGATTATATTGGA-G c.205_263del p.R69Yfs*18 Unclassified 3/58 - 2
17-29486034-T-C c.211T>C p.F71L Missense 3/58 - 1
17-29486036-T-A c.213T>A p.F71L Missense 3/58 - 1
17-29486036-T-G c.213T>G p.F71L Missense 3/58 - 1
17-29486037-G-A c.214G>A p.G72R Missense 3/58 - 1
17-29486037-G-C c.214G>C p.G72R Missense 3/58 - 1
17-29486043-GCT-AAG c.220_222delinsAAG p.A74K Missense 3/58 - 1
17-29486043-GC-CA c.220_221delinsCA p.A74H Missense 3/58 - 1
17-29486043-GC-CT c.220_221delinsCT p.A74L Missense 3/58 - 1
17-29486043-GCT-TAA c.220_222delinsTAA p.A74* Nonsense 3/58 - 1
17-29486046-GCT-AAG c.223_225delinsAAG p.A75K Missense 3/58 - 1
17-29486046-GCT-ATG c.223_225delinsATG p.A75M Missense 3/58 - 1
17-29486046-GC-CT c.223_224delinsCT p.A75L Missense 3/58 - 1
17-29486046-G-C c.223G>C p.A75P Missense 3/58 - 1
17-29486047-C-A c.224C>A p.A75D Missense 3/58 - 1
17-29486049-G-C c.226G>C p.E76Q Missense 3/58 - 1
17-29486049-G-A c.226G>A p.E76K Missense 3/58 - 4
17-29486049-TGAAAA-T c.226_230del p.E76Kfs*29 Frameshift 3/58 - 1
17-29486050-A-AG c.227_228insG p.N78Kfs*29 Frameshift 3/58 - 2
17-29486049-GAAAA-G c.230_233del p.K77Ifs*7 Frameshift 3/58 - 1
17-29486055-A-C c.232A>C p.N78H Missense 3/58 - 1
17-29486055-AAATTTATATCTCT-A c.232_244del p.N78Lfs*3 Frameshift 3/58 - 1
17-29486049-GA-G c.233del p.N78Ifs*7 Frameshift 3/58 - 2
17-29486049-G-GA c.233dup p.N78Kfs*29 Frameshift 3/58 - 1
17-29486059-T-G c.236T>G p.L79* Nonsense 3/58 - 1
17-29486056-AT-A c.236del p.L79Yfs*6 Frameshift 3/58 - 1
17-29486059-T-TA c.237dup p.Y80Ifs*27 Frameshift 3/58 - 1
17-29486062-TATCTCTC-T c.239_245del p.Y80Ffs*3 Frameshift 3/58 - 1
17-29486063-T-A c.240T>A p.Y80* Nonsense 3/58 - 1
17-29486065-T-G c.242T>G p.L81R Missense 3/58 - 1
17-29486062-ATCTC-A c.244_247del p.Q83* Frameshift 3/58 - 2
17-29486068-C-G c.245C>G p.S82C Missense 3/58 - 1
17-29486068-C-T c.245C>T p.S82F Missense 3/58 - 3
17-29486062-ATC-A c.246_247del p.Q83Vfs*23 Frameshift 3/58 - 1
17-29486070-C-T c.247C>T p.Q83* Nonsense 3/58 - 3
17-29486070-C-GAGA c.247delinsGAGA p.Q83delinsEK MultiAAMissense 3/58 - 1
17-29486071-A-T c.248A>T p.Q83L Missense 3/58 - 1
17-29486075-TG-T c.252del p.I85Lfs*18 Frameshift 3/58 - 1
17-29486076-GA-G c.253del p.I85Lfs*18 Frameshift 3/58 - 1
17-29486082-ATTGGAT-A c.259_264del p.L87_D88del InFrameDeletion 3/58 - 1
17-29486084-G-T c.261G>T p.L87F Missense 3/58 - 1
17-29486084-G-C c.261G>C p.L87F Missense 3/58 - 1
17-29486085-GA-TG c.262_263delinsTG p.D88C Missense 3/58 - 1
17-29486085-G-C c.262G>C p.D88H Missense 3/58 - 1
17-29486085-GATAC-G c.264_267del p.T89Wfs*13 Frameshift 3/58 - 1
17-29486088-AC-GG c.265_266delinsGG p.T89G Missense 3/58 - 1
17-29486087-T-TA c.265dup p.T89Nfs*18 Frameshift 3/58 - 1
17-29486091-C-T c.268C>T p.L90= Synonymous 3/58 - 1
17-29486092-T-G c.269T>G p.L90R Missense 3/58 - 1
17-29486094-G-T c.271G>T p.E91* Nonsense 3/58 - 3
17-29486094-G-A c.271G>A p.E91K Missense 3/58 - 1
17-29486095-A-C c.272A>C p.E91A Missense 3/58 - 1
17-29486097-A-C c.274A>C p.K92Q Missense 3/58 - 1
17-29486100-TG-GA c.277_278delinsGA p.C93D Missense 3/58 - 1
17-29486101-G-A c.278G>A p.C93Y Missense 3/58 - 1
17-29486101-TG-T c.278del p.C93Ffs*10 Frameshift 3/58 - 1
17-29486102-T-A c.279T>A p.C93* Nonsense 3/58 - 1
17-29486104-T-C c.281T>C p.L94P Missense 3/58 - 1
17-29486105-T-TG c.283dup p.A95Gfs*12 Frameshift 3/58 - 1
17-29486106-GC-TT c.283_284delinsTT p.A95F Missense 3/58 - 1
17-29486106-GC-TG c.283_284delinsTG p.A95C Missense 3/58 - 1
17-29486107-C-G c.284C>G p.A95G Missense 3/58 - 2
17-29486107-C-A c.284C>A p.A95D Missense 3/58 - 1
17-29486107-C-T c.284C>T p.A95V Missense 3/58 - 2
17-29486108-T-A c.285T>A p.A95= Synonymous 3/58 - 1
17-29486108-T-C c.285T>C p.A95= Synonymous 3/58 - 1
17-29486108-T-G c.285T>G p.A95= Synonymous 3/58 - 1
17-29486108-CT-C c.285del p.Q97Nfs*6 Frameshift 3/58 - 1
17-29486110-G-A c.287G>A p.G96E Missense 3/58 - 1
17-29486110-G-T c.287G>T p.G96V Missense 3/58 - 1
17-29486112-G-T c.288+1G>T - IntronicSNV - 3/57 3
17-29486108-TG-T c.288+1del - IntronicDeletion - 3/57 2
17-29486113-T-G c.288+2T>G - IntronicSNV - 3/57 1
17-29486116-G-A c.288+5G>A - IntronicSNV - 3/57 1
17-29486116-G-C c.288+5G>C - IntronicSNV - 3/57 1
17-29486152-G-A c.288+41G>A - IntronicSNV - 3/57 1
17-29487248-C-T c.288+1137C>T - IntronicSNV - 3/57 3
17-29488136-T-G c.288+2025T>G - IntronicSNV - 3/57 6
17-29490204-C-T c.289C>T p.Q97* Nonsense 4/58 - 1
17-29490203-G-GC c.289dup p.Q97Pfs*10 SpliceAcceptorInsertion 4/58 - 1
17-29490204-CA-C c.291del p.Q97Hfs*6 Frameshift 4/58 - 1
17-29490206-A-G c.291A>G p.Q97= Synonymous 4/58 - 1
17-29490207-C-CA c.292_293insA p.P98Hfs*9 Frameshift 4/58 - 1
17-29490208-CA-C c.296del p.K99Rfs*4 Frameshift 4/58 - 1
17-29490219-A-G c.304A>G p.M102V Missense 4/58 - 2
17-29490220-T-G c.305T>G p.M102R Missense 4/58 - 1
17-29490221-G-T c.306G>T p.M102I Missense 4/58 - 1
17-29490222-A-T c.307A>T p.R103* Nonsense 4/58 - 1
17-29490226-T-G c.311T>G p.L104* Nonsense 4/58 - 4
17-29490226-TTA-T c.311_312del p.L104* Frameshift 4/58 - 1
17-29490228-G-C c.313G>C p.D105H Missense 4/58 - 1
17-29490235-C-T c.320C>T p.T107M Missense 4/58 - 2
17-29490239-G-C c.324G>C p.M108I Missense 4/58 - 1
17-29490239-G-A c.324G>A p.M108I Missense 4/58 - 1
17-29490239-G-T c.324G>T p.M108I Missense 4/58 - 1
17-29490245-C-CT c.330_331insT p.K111* Nonsense 4/58 - 1
17-29490245-C-CAT c.331_332insTA p.K111Ifs*55 Frameshift 4/58 - 1
17-29490246-A-T c.331A>T p.K111* Nonsense 4/58 - 1
17-29490248-A-C c.333A>C p.K111N Missense 4/58 - 1
17-29490248-A-T c.333A>T p.K111N Missense 4/58 - 1
17-29490249-C-T c.334C>T p.Q112* Nonsense 4/58 - 1
17-29490251-AGTTGCTGC-A c.336_343del p.Q112Hfs*12 Frameshift 4/58 - 1
17-29490254-G-A c.339G>A p.L113= Synonymous 4/58 - 1
17-29490255-C-T c.340C>T p.L114= Synonymous 4/58 - 1
17-29490255-CT-TA c.340_341delinsTA p.L114* Nonsense 4/58 - 1
17-29490258-C-A c.343C>A p.P115T Missense 4/58 - 1
17-29490264-A-AT c.350dup p.C118Lfs*9 Frameshift 4/58 - 1
17-29490265-T-A c.350T>A p.I117N Missense 4/58 - 1
17-29490267-T-A c.352T>A p.C118S Missense 4/58 - 1
17-29490268-G-C c.353G>C p.C118S Missense 4/58 - 1
17-29490273-TT-GC c.358_359delinsGC p.F120A Missense 4/58 - 1
17-29490272-TTTTCTTCACACCTGTCG-T c.359_375del p.F120* Frameshift 4/58 - 1
17-29490276-C-G c.361C>G p.L121V Missense 4/58 - 1
17-29490276-C-T c.361C>T p.L121F Missense 4/58 - 1
17-29490288-C-CATGTGT c.373_374insATGTGT p.R125delinsHVC MultiAAMissense 4/58 - 1
17-29490288-C-T c.373C>T p.R125C Missense 4/58 - 1
17-29490290-GT-G c.375del p.E126Kfs*39 Frameshift 4/58 - 1
17-29490291-G-T c.376G>T p.E126* Nonsense 4/58 - 1
17-29490293-A-G c.378A>G p.E126= Synonymous 4/58 - 1
17-29490295-G-A c.380G>A p.G127E Missense 4/58 - 1
17-29490301-A-G c.386A>G p.Q129R Missense 4/58 - 1
17-29490304-CA-C c.389del p.H130Lfs*35 Frameshift 4/58 - 1
17-29490310-C-G c.395C>G p.A132G Missense 4/58 - 1
17-29490309-GCTGAACTT-G c.396_403del p.L134Ffs*19 Frameshift 4/58 - 2
17-29490311-TGAACTTCG-T c.400_407del p.L134Ffs*19 Frameshift 4/58 - 1
17-29490318-C-T c.403C>T p.R135W Missense 4/58 - 3
17-29490318-CG-AC c.403_404delinsAC p.R135T Missense 4/58 - 1
17-29490318-C-G c.403C>G p.R135G Missense 4/58 - 1
17-29490318-TC-T c.403del p.R135Gfs*30 Frameshift 4/58 - 1
17-29490317-T-TC c.403dup p.R135Pfs*21 Frameshift 4/58 - 1
17-29490319-G-A c.404G>A p.R135Q Missense 4/58 - 1
17-29490319-G-T c.404G>T p.R135L Missense 4/58 - 1
17-29490318-CG-C c.405del p.N136Ifs*29 Frameshift 4/58 - 1
17-29490325-C-G c.410C>G p.S137C Missense 4/58 - 1
17-29490325-C-T c.410C>T p.S137F Missense 4/58 - 1
17-29490327-G-C c.412G>C p.A138P Missense 4/58 - 1
17-29490330-TCT-GAG c.415_417delinsGAG p.S139E Missense 4/58 - 1
17-29490330-T-G c.415T>G p.S139A Missense 4/58 - 1
17-29490334-G-T c.419G>T p.G140V Missense 4/58 - 1
17-29490334-G-A c.419G>A p.G140E Missense 4/58 - 1
17-29490348-C-A c.433C>A p.L145I Missense 4/58 - 1
17-29490351-AG-TT c.436_437delinsTT p.S146F Missense 4/58 - 1
17-29490352-G-A c.437G>A p.S146N Missense 4/58 - 1
17-29490354-T-C c.439T>C p.C147R Missense 4/58 - 1
17-29490354-T-G c.439T>G p.C147G Missense 4/58 - 1
17-29490366-A-T c.451A>T p.N151Y Missense 4/58 - 1
17-29490366-A-C c.451A>C p.N151H Missense 4/58 - 1
17-29490370-C-T c.455C>T p.A152V Missense 4/58 - 1
17-29490374-C-T c.459C>T p.V153= Synonymous 4/58 - 1
17-29490381-C-G c.466C>G p.R156G Missense 4/58 - 2
17-29490381-C-T c.466C>T p.R156C Missense 4/58 - 1
17-29490382-G-A c.467G>A p.R156H Missense 4/58 - 1
17-29490382-G-T c.467G>T p.R156L Missense 4/58 - 1
17-29490384-A-G c.469A>G p.I157V Missense 4/58 - 2
17-29490385-T-C c.470T>C p.I157T Missense 4/58 - 2
17-29490384-A-AT c.472dup p.S158Ffs*16 Frameshift 4/58 - 1
17-29490388-C-A c.473C>A p.S158Y Missense 4/58 - 1
17-29490388-C-T c.473C>T p.S158F Missense 4/58 - 1
17-29490390-A-G c.475A>G p.T159A Missense 4/58 - 1
17-29490390-AC-A c.477del p.R160Gfs*5 Frameshift 4/58 - 1
17-29490394-G-T c.479G>T p.R160M Missense 4/58 - 2
17-29490394-G-C c.479G>C p.R160T Missense 4/58 - 1
17-29494693-C-A c.480-2216C>A - IntronicSNV - 4/57 2
17-29494693-C-G c.480-2216C>G - IntronicSNV - 4/57 2
17-29495895-T-G c.480-1014T>G - IntronicSNV - 4/57 2
17-29496343-C-A c.480-566C>A - IntronicSNV - 4/57 2
17-29496907-A-G c.480-2A>G - IntronicSNV - 4/57 1
17-29496909-G-GA c.480_481insA p.L161Ifs*13 SpliceAcceptorInsertion 5/58 - 2
17-29496907-A-AG c.480dup p.L161Vfs*13 SpliceAcceptorInsertion 5/58 - 2
17-29496907-AG-A c.480del p.R160Sfs*5 Frameshift 5/58 - 1
17-29496906-TAGGTTAC-T c.481_487del p.L161Nfs*2 SpliceAcceptorDeletion 5/58 - 1
17-29496911-T-A c.482T>A p.L161* Nonsense 5/58 - 1
17-29496911-T-G c.482T>G p.L161* Nonsense 5/58 - 3
17-29496913-C-T c.484C>T p.Q162* Nonsense 5/58 - 1
17-29496916-G-T c.487G>T p.E163* Nonsense 5/58 - 3
17-29496917-A-G c.488A>G p.E163G Missense 5/58 - 1
17-29496920-T-G c.491T>G p.L164* Nonsense 5/58 - 1
17-29496920-T-A c.491T>A p.L164* Nonsense 5/58 - 1
17-29496920-TA-T c.493del p.T165Lfs*13 Frameshift 5/58 - 1
17-29496923-CTG-C c.496_497del p.V166Lfs*7 Frameshift 5/58 - 1
17-29496923-CTGTT-C c.499_502del p.C167Qfs*10 Frameshift 5/58 - 6
17-29496928-T-TG c.500dup p.C167Wfs*7 Frameshift 5/58 - 1
17-29496930-T-A c.501T>A p.C167* Nonsense 5/58 - 4
17-29496931-T-C c.502T>C p.S168P Missense 5/58 - 1
17-29496932-C-T c.503C>T p.S168L Missense 5/58 - 2
17-29496933-A-ACCCATCAC c.504_505insCCCATCAC p.E169Pfs*12 Frameshift 5/58 - 1
17-29496927-TTGTTCAGAAGACAATGTTGA-T c.505_524del p.E169* Frameshift 5/58 - 1
17-29496933-AGAAGACAATGTTGATGTTCAT-A c.507_527del p.E169_H175del InFrameDeletion 5/58 - 1
17-29496946-G-T c.517G>T p.D173Y Missense 5/58 - 1
17-29496949-G-A c.520G>A p.V174I Missense 5/58 - 1
17-29496953-A-G c.524A>G p.H175R Missense 5/58 - 1
17-29496957-T-G c.528T>G p.D176E Missense 5/58 - 6
17-29496957-T-A c.528T>A p.D176E Missense 5/58 - 15
17-29496960-A-AT c.531_532insT p.E178* Nonsense 5/58 - 1
17-29496961-G-A c.532G>A p.E178K Missense 5/58 - 1
17-29496961-G-T c.532G>T p.E178* Nonsense 5/58 - 3
17-29496961-AGAATTGTTACAGTATATCAATGTGGAT-A c.532_558del p.E178_D186del InFrameDeletion 5/58 - 1
17-29496964-T-C c.535T>C p.L179= Synonymous 5/58 - 1
17-29496966-G-A c.537G>A p.L179= Synonymous 5/58 - 1
17-29496963-ATTGT-A c.536_539del p.L179Yfs*11 Frameshift 5/58 - 1
17-29496968-T-G c.539T>G p.L180* Nonsense 5/58 - 3
17-29496966-GT-G c.539del p.L180Yfs*11 Frameshift 5/58 - 1
17-29496969-A-AC c.541dup p.Q181Pfs*20 Frameshift 5/58 - 2
17-29496970-C-T c.541C>T p.Q181* Nonsense 5/58 - 3
17-29496974-A-G c.545A>G p.Y182C Missense 5/58 - 1
17-29496977-T-A c.548T>A p.I183N Missense 5/58 - 1
17-29496978-C-A c.549C>A p.I183= Synonymous 5/58 - 1
17-29496978-C-T c.549C>T p.I183= Synonymous 5/58 - 1
17-29496985-G-T c.556G>T p.D186Y Missense 5/58 - 2
17-29496985-G-A c.556G>A p.D186N Missense 5/58 - 1
17-29496986-A-T c.557A>T p.D186V Missense 5/58 - 5
17-29496991-G-T c.562G>T p.A188S Missense 5/58 - 1
17-29496992-C-A c.563C>A p.A188E Missense 5/58 - 5
17-29496994-A-G c.565A>G p.K189E Missense 5/58 - 2
17-29496994-A-C c.565A>C p.K189Q Missense 5/58 - 1
17-29496998-T-G c.569T>G p.L190* Nonsense 5/58 - 1
17-29497001-A-G c.572A>G p.K191R Missense 5/58 - 1
17-29497003-C-T c.574C>T p.R192* Nonsense 5/58 - 15
17-29497003-C-G c.574C>G p.R192G Missense 5/58 - 1
17-29497004-G-A c.575G>A p.R192Q Missense 5/58 - 2
17-29497004-G-C c.575G>C p.R192P Missense 5/58 - 1
17-29497010-T-G c.581T>G p.L194R Missense 5/58 - 2
17-29497010-T-C c.581T>C p.L194P Missense 5/58 - 1
17-29497014-G-GT c.585_586insT p.E196* SpliceDonorInsertion 5/58 - 1
17-29497014-G-GA c.585_586insA p.E196Rfs*5 SpliceDonorInsertion 5/58 - 1
17-29497014-G-GC c.585_586insC p.E196Rfs*5 SpliceDonorInsertion 5/58 - 1
17-29497015-G-T c.586G>T p.E196* Nonsense 5/58 - 2
17-29497015-G-A c.586G>A p.E196K Missense 5/58 - 1
17-29497016-G-T c.586+1G>T - IntronicSNV - 5/57 1
17-29497017-T-G c.586+2T>G - IntronicSNV - 5/57 1
17-29497017-T-C c.586+2T>C - IntronicSNV - 5/57 1
17-29497017-T-TA c.586+4dup - IntronicInsertion - 5/57 1
17-29497020-G-A c.586+5G>A - IntronicSNV - 5/57 1
17-29507762-A-C c.587-678A>C - IntronicSNV - 5/57 1
17-29508446-C-T c.593C>T p.A198V Missense 6/58 - 2
17-29508456-TTA-T c.603_604del p.F201Lfs*14 Frameshift 6/58 - 1
17-29508456-TAAAGCCCTAAAGAAGGTT-C c.603_621delinsC p.K202_V207del InFrameDeletion 6/58 - 1
17-29508453-ATTTAAAGCCCTAAAGAAGG-A c.603_621del p.F201Lfs*4 Frameshift 6/58 - 1
17-29508463-C-T c.610C>T p.L204= Synonymous 6/58 - 1
17-29508469-A-C c.616A>C p.K206Q Missense 6/58 - 1
17-29508475-G-C c.622G>C p.A208P Missense 6/58 - 1
17-29508476-C-G c.623C>G p.A208G Missense 6/58 - 1
17-29508476-C-T c.623C>T p.A208V Missense 6/58 - 1
17-29508478-C-T c.625C>T p.Q209* Nonsense 6/58 - 2
17-29508479-A-T c.626A>T p.Q209L Missense 6/58 - 1
17-29508479-A-C c.626A>C p.Q209P Missense 6/58 - 1
17-29508482-T-A c.629T>A p.L210* Nonsense 6/58 - 1
17-29508481-TTAGCAGTTATAAATAGCCTGGAAAAGGTAAGTTACAACCTCTCTGGTATTAAAATTTTG-T c.630_654+34del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/58 6/57 1
17-29508491-AT-A c.638del p.I213Kfs*12 Frameshift 6/58 - 1
17-29508491-T-TA c.641dup p.N214Kfs*2 Frameshift 6/58 - 1
17-29508495-T-G c.642T>G p.N214K Missense 6/58 - 1
17-29508495-T-A c.642T>A p.N214K Missense 6/58 - 1
17-29508496-TA-T c.643del p.S215Afs*10 Frameshift 6/58 - 1
17-29508499-C-T c.646C>T p.L216= Synonymous 6/58 - 2
17-29508500-CTGG-C c.647_649del p.L216_E217delinsQ MultiAAMissense 6/58 - 1
17-29508500-T-C c.647T>C p.L216P Missense 6/58 - 1
17-29508500-TG-T c.649del p.E217Kfs*8 Frameshift 6/58 - 1
17-29508502-G-T c.649G>T p.E217* Nonsense 6/58 - 2
17-29508500-T-TG c.649dup p.E217Gfs*14 Frameshift 6/58 - 1
17-29508504-A-C c.651A>C p.E217D Missense 6/58 - 1
17-29508504-A-T c.651A>T p.E217D Missense 6/58 - 1
17-29508502-G-GA c.653dup p.A219Gfs*12 SpliceDonorInsertion 6/58 - 1
17-29508507-G-C c.654G>C p.K218N Missense 6/58 - 1
17-29508507-G-T c.654G>T p.K218N Missense 6/58 - 1
17-29508691-A-C c.655-37A>C - IntronicSNV - 6/57 1
17-29508699-T-C c.655-29T>C - IntronicSNV - 6/57 1
17-29508726-A-AG c.655dup p.A219Gfs*12 SpliceAcceptorInsertion 7/58 - 1
17-29508729-C-G c.656C>G p.A219G Missense 7/58 - 2
17-29508735-G-A c.662G>A p.W221* Nonsense 7/58 - 3
17-29508736-G-A c.663G>A p.W221* Nonsense 7/58 - 2
17-29508736-G-T c.663G>T p.W221C Missense 7/58 - 1
17-29508753-A-T c.680A>T p.Y227F Missense 7/58 - 1
17-29508754-T-G c.681T>G p.Y227* Nonsense 7/58 - 1
17-29508755-C-G c.682C>G p.P228A Missense 7/58 - 1
17-29508755-C-T c.682C>T p.P228S Missense 7/58 - 1
17-29508759-A-C c.686A>C p.D229A Missense 7/58 - 1
17-29508761-G-T c.688G>T p.E230* Nonsense 7/58 - 3
17-29508761-TG-T c.688del p.E230Nfs*51 Frameshift 7/58 - 1
17-29508764-T-C c.691T>C p.F231L Missense 7/58 - 1
17-29508766-T-A c.693T>A p.F231L Missense 7/58 - 1
17-29508766-T-G c.693T>G p.F231L Missense 7/58 - 1
17-29508764-TTT-ATG c.691_693delinsATG p.F231M Missense 7/58 - 1
17-29508766-TTA-T c.693_694del p.T232Kfs*9 Frameshift 7/58 - 1
17-29508763-AT-A c.693del p.F231Lfs*50 Frameshift 7/58 - 3
17-29508767-A-G c.694A>G p.T232A Missense 7/58 - 1
17-29508771-AAACT-A c.698_701del p.K233Sfs*47 Frameshift 7/58 - 1
17-29508775-G-T c.702G>T p.L234= Synonymous 7/58 - 5
17-29508775-G-A c.702G>A p.L234= Synonymous 7/58 - 9
17-29508775-G-C c.702G>C p.L234= Synonymous 7/58 - 2
17-29508773-C-T c.700C>T p.L234= Synonymous 7/58 - 2
17-29508773-CTG-C c.702_703del p.Y235Pfs*6 Frameshift 7/58 - 2
17-29508776-GTA-G c.703_704del p.Y235Pfs*6 Frameshift 7/58 - 1
17-29508777-A-G c.704A>G p.Y235C Missense 7/58 - 1
17-29508778-C-G c.705C>G p.Y235* Nonsense 7/58 - 1
17-29508779-C-T c.706C>T p.Q236* Nonsense 7/58 - 3
17-29508779-CCAG-C c.706_708del p.Q236del InFrameDeletion 7/58 - 1
17-29508788-C-T c.715C>T p.Q239* Nonsense 7/58 - 2
17-29508789-A-G c.716A>G p.Q239R Missense 7/58 - 1
17-29508797-A-G c.724A>G p.M242V Missense 7/58 - 1
17-29508802-T-C c.729T>C p.A243= Synonymous 7/58 - 1
17-29508803-G-A c.730G>A p.E244K Missense 7/58 - 1
17-29509491-A-G c.731-35A>G - IntronicSNV - 7/57 1
17-29509526-A-C c.731A>C p.E244A Missense 8/58 - 1
17-29509527-A-AG c.732_733insG p.C245Vfs*7 SpliceAcceptorInsertion 8/58 - 1
17-29509527-A-AC c.732_733insC p.C245Lfs*7 SpliceAcceptorInsertion 8/58 - 1
17-29509525-G-GA c.732dup p.C245Mfs*7 SpliceAcceptorInsertion 8/58 - 1
17-29509525-GAATGTGC-G c.732_738del p.C245Kfs*34 SpliceAcceptorDeletion 8/58 - 1
17-29509528-TG-GC c.733_734delinsGC p.C245A Missense 8/58 - 1
17-29509529-G-T c.734G>T p.C245F Missense 8/58 - 1
17-29509531-G-T c.736G>T p.A246S Missense 8/58 - 1
17-29509532-C-A c.737C>A p.A246E Missense 8/58 - 1
17-29509533-CA-C c.738del p.E247Kfs*34 Frameshift 8/58 - 1
17-29509532-CAGA-C c.739_741del p.E247del InFrameDeletion 8/58 - 1
17-29509534-G-T c.739G>T p.E247* Nonsense 8/58 - 1
17-29509534-G-A c.739G>A p.E247K Missense 8/58 - 1
17-29509534-G-C c.739G>C p.E247Q Missense 8/58 - 1
17-29509537-A-T c.742A>T p.K248* Nonsense 8/58 - 1
17-29509541-T-C c.746T>C p.L249P Missense 8/58 - 1
17-29509542-AT-A c.750del p.F250Lfs*31 Frameshift 8/58 - 1
17-29509552-G-T c.757G>T p.V253L Missense 8/58 - 1
17-29509555-G-T c.760G>T p.D254Y Missense 8/58 - 1
17-29509561-T-C c.766T>C p.F256L Missense 8/58 - 1
17-29509567-G-T c.772G>T p.E258* Nonsense 8/58 - 1
17-29509570-AG-GC c.775_776delinsGC p.S259A Missense 8/58 - 1
17-29509576-A-AC c.781_782insC p.K261Tfs*3 Frameshift 8/58 - 1
17-29509579-C-T c.784C>T p.R262C Missense 8/58 - 5
17-29509579-CGT-TGG c.784_786delinsTGG p.R262W Missense 8/58 - 1
17-29509580-G-A c.785G>A p.R262H Missense 8/58 - 1
17-29509580-G-GTT c.786_787insTT p.K263Lfs*19 Frameshift 8/58 - 1
17-29509582-A-G c.787A>G p.K263E Missense 8/58 - 1
17-29509582-A-T c.787A>T p.K263* Nonsense 8/58 - 1
17-29509589-C-T c.794C>T p.A265V Missense 8/58 - 2
17-29509591-G-T c.796G>T p.V266F Missense 8/58 - 1
17-29509595-G-A c.800G>A p.W267* Nonsense 8/58 - 2
17-29509594-TG-T c.801del p.W267Cfs*14 Frameshift 8/58 - 1
17-29509596-G-A c.801G>A p.W267* Nonsense 8/58 - 4
17-29509600-ACTACAAATCATTCTCCTTATCTTGTGTCCAGAAATAATCCAGGATATATCCAAAGACGT-A c.805_863del p.L269Gfs*2 SpliceDonorDeletion 8/58 - 1
17-29509603-C-T c.808C>T p.Q270* Nonsense 8/58 - 2
17-29509606-AATCATTCTC-A c.811_819del p.I271_L273del InFrameDeletion 8/58 - 1
17-29509613-CT-C c.818del p.L273Pfs*8 Frameshift 8/58 - 1
17-29509611-TCTC-T c.819_821del p.L274del InFrameDeletion 8/58 - 1
17-29509615-C-T c.820C>T p.L274F Missense 8/58 - 2
17-29509615-C-G c.820C>G p.L274V Missense 8/58 - 1
17-29509616-T-G c.821T>G p.L274R Missense 8/58 - 1
17-29509630-GA-G c.838del p.I280* Frameshift 8/58 - 1
17-29509638-C-A c.843C>A p.I281= Synonymous 8/58 - 1
17-29509639-C-T c.844C>T p.Q282* Nonsense 8/58 - 6
17-29509640-A-G c.845A>G p.Q282R Missense 8/58 - 1
17-29509641-G-A c.846G>A p.Q282= Synonymous 8/58 - 2
17-29509642-G-T c.847G>T p.D283Y Missense 8/58 - 1
17-29509648-T-TTC c.853_854insTC p.S285Ffs*11 Frameshift 8/58 - 1
17-29509656-C-T c.861C>T p.D287= Synonymous 8/58 - 1
17-29509657-G-A c.862G>A p.V288M Missense 8/58 - 2
17-29509659-G-GC c.864_865insC p.V289Rfs*2 Frameshift 8/58 - 1
17-29509663-G-C c.868G>C p.D290H Missense 8/58 - 1
17-29509674-AC-A c.879del p.N293Kfs*2 Frameshift 8/58 - 1
17-29509680-ATAAG-A c.885_888del p.N295Kfs*21 SpliceDonorDeletion 8/58 - 1
17-29509682-A-G c.887A>G p.K296R Missense 8/58 - 1
17-29509684-G-T c.888+1G>T - IntronicSNV - 8/57 2
17-29509685-T-G c.888+2T>G - IntronicSNV - 8/57 1
17-29509775-A-G c.888+92A>G - IntronicSNV - 8/57 1
17-29509791-C-T c.888+108C>T - IntronicSNV - 8/57 1
17-29509801-G-T c.888+118G>T - IntronicSNV - 8/57 1
17-29510334-T-A c.888+651T>A - IntronicSNV - 8/57 3
17-29510427-A-G c.888+744A>G - IntronicSNV - 8/57 2
17-29510472-A-G c.888+789A>G - IntronicSNV - 8/57 2
17-29519995-T-C c.889-7445T>C - IntronicSNV - 8/57 1
17-29526742-T-C c.889-698T>C - IntronicSNV - 8/57 1
17-29527440-A-T c.889A>T p.K297* Nonsense 9/58 - 2
17-29527440-GAAGTTATTTCTGGACAGTCTACGAAAAGCTCTTGCTGGCCATGGAGGAAGTAGGCAGCT-G c.889_947del p.K297Dfs*13 InFrameDeletion 9/58 - 1
17-29527444-T-A c.893T>A p.L298* Nonsense 9/58 - 1
17-29527444-T-G c.893T>G p.L298* Nonsense 9/58 - 1
17-29527450-T-C c.899T>C p.L300P Missense 9/58 - 1
17-29527452-G-A c.901G>A p.D301N Missense 9/58 - 2
17-29527455-A-G c.904A>G p.S302G Missense 9/58 - 1
17-29527458-C-T c.907C>T p.L303= Synonymous 9/58 - 1
17-29527461-C-T c.910C>T p.R304* Nonsense 9/58 - 34
17-29527462-G-A c.911G>A p.R304Q Missense 9/58 - 1
17-29527462-G-GA c.915dup p.A306Sfs*9 Frameshift 9/58 - 1
17-29527466-AAGCT-A c.915_918del p.K305Nfs*11 Frameshift 9/58 - 1
17-29527470-CTT-TAA c.919_921delinsTAA p.L307* Nonsense 9/58 - 1
17-29527476-G-A c.925G>A p.G309S Missense 9/58 - 1
17-29527480-A-C c.929A>C p.H310P Missense 9/58 - 1
17-29527483-G-A c.932G>A p.G311E Missense 9/58 - 1
17-29527486-G-A c.935G>A p.G312E Missense 9/58 - 1
17-29527484-AG-A c.935del p.G312Efs*5 Frameshift 9/58 - 1
17-29527494-C-T c.943C>T p.Q315* Nonsense 9/58 - 3
17-29527496-G-A c.945G>A p.Q315= Synonymous 9/58 - 1
17-29527496-G-C c.945G>C p.Q315H Missense 9/58 - 1
17-29527497-C-A c.946C>A p.L316M Missense 9/58 - 1
17-29527503-G-A c.952G>A p.E318K Missense 9/58 - 14
17-29527501-CAG-C c.952_953del p.E318Kfs*11 Frameshift 9/58 - 2
17-29527506-A-C c.955A>C p.S319R Missense 9/58 - 1
17-29527509-G-C c.958G>C p.A320P Missense 9/58 - 1
17-29527511-T-A c.960T>A p.A320= Synonymous 9/58 - 1
17-29527517-T-TGA c.967_968insAG p.A323Efs*54 Frameshift 9/58 - 1
17-29527519-C-A c.968C>A p.A323D Missense 9/58 - 1
17-29527521-T-A c.970T>A p.C324S Missense 9/58 - 1
17-29527522-G-C c.971G>C p.C324S Missense 9/58 - 1
17-29527531-CT-C c.980del p.L327Rfs*49 Frameshift 9/58 - 1
17-29527531-T-A c.980T>A p.L327Q Missense 9/58 - 1
17-29527531-T-C c.980T>C p.L327P Missense 9/58 - 1
17-29527530-CTG-C c.983_984del p.C328* Frameshift 9/58 - 2
17-29527538-A-G c.987A>G p.K329= Synonymous 9/58 - 1
17-29527539-G-A c.988G>A p.A330T Missense 9/58 - 2
17-29527540-CA-C c.991del p.S331Vfs*45 Frameshift 9/58 - 1
17-29527546-CT-TG c.995_996delinsTG p.T332M Missense 9/58 - 2
17-29527548-TA-AT c.997_998delinsAT p.Y333I Missense 9/58 - 1
17-29527548-T-TA c.998dup p.Y333* Nonsense 9/58 - 2
17-29527550-C-A c.999C>A p.Y333* Nonsense 9/58 - 1
17-29527550-C-G c.999C>G p.Y333* Nonsense 9/58 - 1
17-29527555-A-G c.1004A>G p.N335S Missense 9/58 - 1
17-29527556-T-C c.1005T>C p.N335= Synonymous 9/58 - 1
17-29527557-TG-AC c.1006_1007delinsAC p.W336T Missense 9/58 - 1
17-29527557-T-A c.1006T>A p.W336R Missense 9/58 - 1
17-29527558-G-A c.1007G>A p.W336* Nonsense 9/58 - 8
17-29527559-G-A c.1008G>A p.W336* Nonsense 9/58 - 3
17-29527557-TGGGAA-T c.1008_1012del p.W336* Frameshift 9/58 - 1
17-29527560-G-A c.1009G>A p.E337K Missense 9/58 - 2
17-29527560-G-T c.1009G>T p.E337* Nonsense 9/58 - 2
17-29527564-A-G c.1013A>G p.D338G Missense 9/58 - 1
17-29527564-GA-G c.1013del p.D338Vfs*38 Frameshift 9/58 - 1
17-29527564-A-AT c.1014dup p.N339* Nonsense 9/58 - 1
17-29527566-A-T c.1015A>T p.N339Y Missense 9/58 - 1
17-29527567-ACT-A c.1019_1020del p.S340Cfs*12 Frameshift 9/58 - 8
17-29527570-C-CT c.1020dup p.V341Cfs*12 Frameshift 9/58 - 1
17-29527570-CTG-C c.1021_1022del p.V341Hfs*11 Frameshift 9/58 - 1
17-29527573-T-TGA c.1022_1023insGA p.I342Tfs*35 Frameshift 9/58 - 1
17-29527587-G-A c.1036G>A p.V346I Missense 9/58 - 1
17-29527590-C-T c.1039C>T p.Q347* Nonsense 9/58 - 5
17-29527590-C-A c.1039C>A p.Q347K Missense 9/58 - 1
17-29527590-C-G c.1039C>G p.Q347E Missense 9/58 - 1
17-29527590-TC-T c.1039del p.Q347Sfs*29 Frameshift 9/58 - 1
17-29527591-CA-C c.1040del p.Q347Rfs*29 Frameshift 9/58 - 1
17-29527592-G-T c.1041G>T p.Q347H Missense 9/58 - 1
17-29527592-G-C c.1041G>C p.Q347H Missense 9/58 - 1
17-29527595-C-T c.1044C>T p.S348= Synonymous 9/58 - 1
17-29527607-T-G c.1056T>G p.D352E Missense 9/58 - 1
17-29527607-T-A c.1056T>A p.D352E Missense 9/58 - 1
17-29527611-A-T c.1060A>T p.K354* Nonsense 9/58 - 1
17-29527612-A-G c.1061A>G p.K354R Missense 9/58 - 1
17-29527613-G-T c.1062G>T p.K354N Missense 9/58 - 2
17-29527613-G-A c.1062G>A p.K354= Synonymous 9/58 - 2
17-29527613-G-C c.1062G>C p.K354N Missense 9/58 - 2
17-29527614-G-A c.1062+1G>A - IntronicSNV - 9/57 2
17-29527615-T-G c.1062+2T>G - IntronicSNV - 9/57 1
17-29527616-A-G c.1062+3A>G - IntronicSNV - 9/57 2
17-29527726-A-G c.1062+113A>G - IntronicSNV - 9/57 1
17-29528012-A-G c.1063-43A>G - IntronicSNV - 9/57 1
17-29528055-GAACCTGCTTTTTAATCCAAGTAAGCCATTCTCAAGAGGCAGTCAGCCTGCAGATGTGGA-G c.1063_1121del p.N355Sfs*4 InFrameDeletion 10/58 - 4
17-29528059-T-C c.1067T>C p.L356P Missense 10/58 - 1
17-29528061-CT-AC c.1069_1070delinsAC p.L357T Missense 10/58 - 1
17-29528062-T-G c.1070T>G p.L357R Missense 10/58 - 1
17-29528070-C-G c.1078C>G p.P360A Missense 10/58 - 1
17-29528071-CAAGT-C c.1083_1086del p.K362Hfs*13 Frameshift 10/58 - 1
17-29528086-C-G c.1094C>G p.S365* Nonsense 10/58 - 3
17-29528087-CAA-C c.1095_1096del p.G367Qfs*11 Frameshift 10/58 - 1
17-29528097-C-T c.1105C>T p.Q369* Nonsense 10/58 - 7
17-29528104-C-G c.1112C>G p.A371G Missense 10/58 - 1
17-29528106-G-A c.1114G>A p.D372N Missense 10/58 - 1
17-29528107-A-C c.1115A>C p.D372A Missense 10/58 - 1
17-29528112-GATCT-G c.1122_1125del p.D374Efs*2 Frameshift 10/58 - 2
17-29528127-T-C c.1135T>C p.C379R Missense 10/58 - 1
17-29528127-TG-GC c.1135_1136delinsGC p.C379A Missense 10/58 - 2
17-29528130-C-T c.1138C>T p.L380F Missense 10/58 - 1
17-29528131-T-G c.1139T>G p.L380R Missense 10/58 - 1
17-29528131-T-C c.1139T>C p.L380P Missense 10/58 - 1
17-29528130-CT-C c.1140del p.V381Ffs*6 Frameshift 10/58 - 1
17-29528133-GT-G c.1144del p.S382Lfs*5 Frameshift 10/58 - 1
17-29528137-C-T c.1145C>T p.S382F Missense 10/58 - 1
17-29528137-C-CT c.1147dup p.C383Lfs*13 Frameshift 10/58 - 1
17-29528141-C-A c.1149C>A p.C383* Nonsense 10/58 - 4
17-29528142-T-C c.1150T>C p.F384L Missense 10/58 - 1
17-29528144-T-A c.1152T>A p.F384L Missense 10/58 - 1
17-29528144-T-G c.1152T>G p.F384L Missense 10/58 - 1
17-29528145-CGT-AAG c.1153_1155delinsAAG p.R385K Missense 10/58 - 1
17-29528145-C-A c.1153C>A p.R385S Missense 10/58 - 1
17-29528145-C-T c.1153C>T p.R385C Missense 10/58 - 1
17-29528145-C-G c.1153C>G p.R385G Missense 10/58 - 1
17-29528146-G-A c.1154G>A p.R385H Missense 10/58 - 2
17-29528151-AAGCCCTCACAACAACCAACACTTTAAGGTGAGAGCATTGGTTTTTATCTAACTATATTT-A c.1160_1185+33del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/58 10/57 1
17-29528154-C-A c.1162C>A p.P388T Missense 10/58 - 3
17-29528157-C-T c.1165C>T p.H389Y Missense 10/58 - 2
17-29528158-A-G c.1166A>G p.H389R Missense 10/58 - 1
17-29528159-C-A c.1167C>A p.H389Q Missense 10/58 - 1
17-29528162-AC-A c.1170del p.N390Kfs*22 Frameshift 10/58 - 2
17-29528166-C-T c.1174C>T p.Q392* Nonsense 10/58 - 1
17-29528168-A-G c.1176A>G p.Q392= Synonymous 10/58 - 1
17-29528169-C-G c.1177C>G p.H393D Missense 10/58 - 2
17-29528169-C-T c.1177C>T p.H393Y Missense 10/58 - 1
17-29528170-A-T c.1178A>T p.H393L Missense 10/58 - 2
17-29528171-ACT-A c.1179_1180del p.F394* Frameshift 10/58 - 2
17-29528171-CTT-C c.1181_1182del p.F394* Frameshift 10/58 - 2
17-29528171-C-CT c.1182dup p.K395* Nonsense 10/58 - 1
17-29528175-AA-GC c.1183_1184delinsGC p.K395A Missense 10/58 - 1
17-29528178-G-T c.1185+1G>T - IntronicSNV - 10/57 1
17-29528178-G-A c.1185+1G>A - IntronicSNV - 10/57 5
17-29528176-AG-A c.1185+1del - IntronicDeletion - 10/57 1
17-29528179-GT-G c.1185+2del - IntronicDeletion - 10/57 1
17-29528179-T-A c.1185+2T>A - IntronicSNV - 10/57 1
17-29528225-C-T c.1185+48C>T - IntronicSNV - 10/57 1
17-29528270-C-T c.1185+93C>T - IntronicSNV - 10/57 1
17-29528429-GATCTGCCTGGCTCAGAATTCACCTTCTACATTTCACTATGTGCTGGTAAATTCACTCCA-G c.1186_1244del p.I396Sfs*13 InFrameDeletion 11/58 - 1
17-29528431-C-T c.1188C>T p.I396= Synonymous 11/58 - 1
17-29528438-GC-TG c.1195_1196delinsTG p.A399C Missense 11/58 - 1
17-29528441-C-G c.1198C>G p.Q400E Missense 11/58 - 1
17-29528441-C-T c.1198C>T p.Q400* Nonsense 11/58 - 2
17-29528441-C-CG c.1198_1199insG p.Q400Rfs*29 Frameshift 11/58 - 1
17-29528450-C-T c.1207C>T p.P403S Missense 11/58 - 1
17-29528454-C-T c.1211C>T p.S404F Missense 11/58 - 1
17-29528457-C-T c.1214C>T p.T405I Missense 11/58 - 2
17-29528458-CA-C c.1215del p.H407Tfs*5 Frameshift 11/58 - 1
17-29528468-TGTGCTGGTAAATTCACTCCATCGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTAA-T c.1225_1260+23del - SpliceDonorDeletion 11/58 11/57 1
17-29528466-ATG-A c.1226_1227del p.V409Afs*19 Frameshift 11/58 - 1
17-29528475-TA-AC c.1232_1233delinsAC p.V411D Missense 11/58 - 1
17-29528480-T-G c.1237T>G p.S413A Missense 11/58 - 1
17-29528483-C-T c.1240C>T p.L414F Missense 11/58 - 1
17-29528484-T-G c.1241T>G p.L414R Missense 11/58 - 1
17-29528485-C-T c.1242C>T p.L414= Synonymous 11/58 - 1
17-29528489-C-T c.1246C>T p.R416* Nonsense 11/58 - 19
17-29528490-G-C c.1247G>C p.R416P Missense 11/58 - 1
17-29528492-AT-GC c.1249_1250delinsGC p.I417A Missense 11/58 - 1
17-29528490-GA-G c.1249del p.I417Sfs*56 Frameshift 11/58 - 1
17-29528492-A-G c.1249A>G p.I417V Missense 11/58 - 1
17-29528492-A-ATT c.1250_1251insTT p.I418Sfs*56 Frameshift 11/58 - 1
17-29528494-C-G c.1251C>G p.I417M Missense 11/58 - 1
17-29528496-T-C c.1253T>C p.I418T Missense 11/58 - 1
17-29528497-C-T c.1254C>T p.I418= Synonymous 11/58 - 1
17-29528502-A-T c.1259A>T p.N420I Missense 11/58 - 1
17-29528502-A-G c.1259A>G p.N420S Missense 11/58 - 1
17-29528502-A-AT c.1260dup p.S421Ffs*8 SpliceDonorInsertion - - 1
17-29528503-T-G c.1260T>G p.N420K Missense 11/58 - 1
17-29528504-G-A c.1260+1G>A - IntronicSNV - 11/57 3
17-29528504-TGTAAGTCCAAAAGGTA-T c.1260+1_1260+16del - SpliceDonorDeletion - 11/57 1
17-29528505-T-G c.1260+2T>G - IntronicSNV - 11/57 1
17-29528508-G-A c.1260+5G>A - IntronicSNV - 11/57 1
17-29528509-T-A c.1260+6T>A - IntronicSNV - 11/57 1
17-29528540-T-A c.1260+37T>A - IntronicSNV - 11/57 1
17-29528562-G-A c.1260+59G>A - IntronicSNV - 11/57 1
17-29530107-A-G c.1260+1604A>G - IntronicSNV - 11/57 5
17-29533256-AGTCCGCATTGGATTGGTGGCCTAAGATTGATGCTGTGTATTGTCACTCGGTTGAACTTC-A c.1261_1319del p.S421Kfs*5 InFrameDeletion 12/58 - 1
17-29533258-T-G c.1261T>G p.S421A Missense 12/58 - 1
17-29533257-G-GT c.1261dup p.S421Ffs*8 SpliceAcceptorInsertion 12/58 - 1
17-29533261-G-A c.1264G>A p.A422T Missense 12/58 - 5
17-29533267-GGATTGGTGGCCTAAGAT-G c.1270_1286del p.D424* Frameshift 12/58 - 1
17-29533271-G-A c.1274G>A p.W425* Nonsense 12/58 - 1
17-29533272-G-A c.1275G>A p.W425* Nonsense 12/58 - 2
17-29533274-G-A c.1277G>A p.W426* Nonsense 12/58 - 2
17-29533275-G-A c.1278G>A p.W426* Nonsense 12/58 - 2
17-29533276-GCCT-G c.1279_1281del p.P427del InFrameDeletion 12/58 - 1
17-29533275-GC-G c.1280del p.P427Lfs*46 Frameshift 12/58 - 1
17-29533280-A-T c.1283A>T p.K428M Missense 12/58 - 1
17-29533285-GATGCTGTGTATTGTCACTCGGTTGAACTTCGAAATATGTTTGGTGAA-G c.1290_1336del p.A431Tfs*3 Frameshift 12/58 - 1
17-29533288-G-T c.1291G>T p.A431S Missense 12/58 - 1
17-29533294-T-C c.1297T>C p.Y433H Missense 12/58 - 1
17-29533295-A-T c.1298A>T p.Y433F Missense 12/58 - 1
17-29533295-A-G c.1298A>G p.Y433C Missense 12/58 - 1
17-29533303-T-C c.1306T>C p.S436P Missense 12/58 - 1
17-29533304-C-A c.1307C>A p.S436* Nonsense 12/58 - 6
17-29533304-C-T c.1307C>T p.S436L Missense 12/58 - 1
17-29533309-G-T c.1312G>T p.E438* Nonsense 12/58 - 2
17-29533312-C-T c.1315C>T p.L439F Missense 12/58 - 1
17-29533315-C-T c.1318C>T p.R440* Nonsense 12/58 - 27
17-29533315-CGA-AAC c.1318_1320delinsAAC p.R440N Missense 12/58 - 1
17-29533315-C-G c.1318C>G p.R440G Missense 12/58 - 1
17-29533316-G-A c.1319G>A p.R440Q Missense 12/58 - 3
17-29533316-CGAAATA-C c.1319_1324del p.R440_M442delinsL MultiAAMissense 12/58 - 1
17-29533317-A-AT c.1320_1321insT p.N441* Nonsense 12/58 - 1
17-29533318-A-G c.1321A>G p.N441D Missense 12/58 - 1
17-29533319-A-G c.1322A>G p.N441S Missense 12/58 - 2
17-29533320-T-TTA c.1323_1324insTA p.M442* Nonsense 12/58 - 1
17-29533321-TATGTTTGG-T c.1324_1331del p.M442* Frameshift 12/58 - 1
17-29533324-T-C c.1327T>C p.F443L Missense 12/58 - 1
17-29533325-T-G c.1328T>G p.F443C Missense 12/58 - 1
17-29533330-G-A c.1333G>A p.E445K Missense 12/58 - 1
17-29533333-A-G c.1336A>G p.T446A Missense 12/58 - 1
17-29533337-T-C c.1340T>C p.L447P Missense 12/58 - 2
17-29533339-C-T c.1342C>T p.H448Y Missense 12/58 - 1
17-29533342-A-T c.1345A>T p.K449* Nonsense 12/58 - 1
17-29533351-C-T c.1354C>T p.Q452* Nonsense 12/58 - 1
17-29533355-G-T c.1358G>T p.G453V Missense 12/58 - 1
17-29533355-G-A c.1358G>A p.G453D Missense 12/58 - 1
17-29533356-T-C c.1359T>C p.G453= Synonymous 12/58 - 1
17-29533357-TGT-GAG c.1360_1362delinsGAG p.C454E Missense 12/58 - 1
17-29533373-C-T c.1376C>T p.A459V Missense 12/58 - 1
17-29533378-C-T c.1381C>T p.R461* Nonsense 12/58 - 17
17-29533379-G-A c.1382G>A p.R461Q Missense 12/58 - 2
17-29533384-G-A c.1387G>A p.A463T Missense 12/58 - 2
17-29533388-C-T c.1391C>T p.P464L Missense 12/58 - 1
17-29533389-G-A c.1392G>A p.P464= Synonymous 12/58 - 3
17-29533389-G-T c.1392G>T p.P464= Synonymous 12/58 - 1
17-29533390-G-A c.1392+1G>A - IntronicSNV - 12/57 1
17-29533390-G-T c.1392+1G>T - IntronicSNV - 12/57 1
17-29533391-T-G c.1392+2T>G - IntronicSNV - 12/57 1
17-29533434-AT-A c.1392+53del - IntronicDeletion - 12/57 1
17-29533486-T-A c.1392+97T>A - IntronicSNV - 12/57 1
17-29534143-T-G c.1392+754T>G - IntronicSNV - 12/57 2
17-29537463-C-T c.1393-4006C>T - IntronicSNV - 12/57 1
17-29541339-A-T c.1393-130A>T - IntronicSNV - 12/57 1
17-29541437-T-A c.1393-32T>A - IntronicSNV - 12/57 2
17-29541437-T-C c.1393-32T>C - IntronicSNV - 12/57 2
17-29541437-T-G c.1393-32T>G - IntronicSNV - 12/57 2
17-29541469-GAGTCTTACATTTAAAGAAAAAGTAACAAGCCTTAAATTTAAAGAAAAACCTACAGACCT-G c.1393_1451del p.S465Gfs*6 InFrameDeletion 13/58 - 3
17-29541470-G-A c.1394G>A p.S465N Missense 13/58 - 1
17-29541471-GT-G c.1395del p.T467Hfs*6 Frameshift 13/58 - 1
17-29541472-C-T c.1396C>T p.L466F Missense 13/58 - 1
17-29541474-T-TA c.1399dup p.T467Nfs*3 Frameshift 13/58 - 3
17-29541476-C-T c.1400C>T p.T467I Missense 13/58 - 2
17-29541479-T-C c.1403T>C p.F468S Missense 13/58 - 2
17-29541477-ATT-A c.1403_1404del p.F468* Frameshift 13/58 - 1
17-29541477-AT-A c.1404del p.F468Lfs*5 Frameshift 13/58 - 2
17-29541482-A-G c.1406A>G p.K469R Missense 13/58 - 1
17-29541484-G-T c.1408G>T p.E470* Nonsense 13/58 - 1
17-29541484-GAAAAAGTAACAAGCCTTAAATTTAAAGA-G c.1413_1440del p.K471Nfs*18 Frameshift 13/58 - 1
17-29541487-AAAGT-A c.1414_1417del p.V472Qfs*25 Frameshift 13/58 - 1
17-29541491-TA-T c.1417del p.T473Qfs*25 Frameshift 13/58 - 1
17-29541497-G-A c.1421G>A p.S474N Missense 13/58 - 1
17-29541497-G-GC c.1423dup p.L475Pfs*2 Frameshift 13/58 - 1
17-29541497-GC-G c.1423del p.K476Nfs*22 Frameshift 13/58 - 1
17-29541511-G-T c.1435G>T p.E479* Nonsense 13/58 - 1
17-29541511-GA-TC c.1435_1436inv p.E479S Missense 13/58 - 1
17-29541520-A-G c.1444A>G p.T482A Missense 13/58 - 1
17-29541524-A-G c.1448A>G p.D483G Missense 13/58 - 1
17-29541526-CT-GC c.1450_1451delinsGC p.L484A Missense 13/58 - 1
17-29541529-G-T c.1453G>T p.E485* Nonsense 13/58 - 1
17-29541527-TG-T c.1453del p.E485Rfs*13 Frameshift 13/58 - 1
17-29541536-G-A c.1460G>A p.R487K Missense 13/58 - 2
17-29541536-GA-G c.1462del p.S488Afs*10 Frameshift 13/58 - 1
17-29541542-A-G c.1466A>G p.Y489C Missense 13/58 - 28
17-29541540-CTATAAGTATCTTCTCTTGTCCATGGTGAAACTAATTCATGCAGATCCAAAGCTCTTGCT-C c.1466_1524del p.Y489Lfs*2 SpliceDonorDeletion 13/58 - 1
17-29541543-T-A c.1467T>A p.Y489* Nonsense 13/58 - 2
17-29541543-T-G c.1467T>G p.Y489* Nonsense 13/58 - 3
17-29541548-A-G c.1472A>G p.Y491C Missense 13/58 - 1
17-29541572-T-C c.1496T>C p.L499P Missense 13/58 - 2
17-29541575-T-G c.1499T>G p.I500S Missense 13/58 - 1
17-29541577-C-T c.1501C>T p.H501Y Missense 13/58 - 1
17-29541586-C-T c.1510C>T p.P504S Missense 13/58 - 2
17-29541589-A-G c.1513A>G p.K505E Missense 13/58 - 1
17-29541599-T-A c.1523T>A p.L508H Missense 13/58 - 1
17-29541599-TTTG-T c.1525_1527del p.C509del InFrameDeletion 13/58 - 1
17-29541598-C-CT c.1525dup p.C509Lfs*2 SpliceDonorInsertion 13/58 - 1
17-29541605-T-G c.1527+2T>G - IntronicSNV - 13/57 1
17-29541605-T-A c.1527+2T>A - IntronicSNV - 13/57 1
17-29541606-A-T c.1527+3A>T - IntronicSNV - 13/57 1
17-29541608-G-A c.1527+5G>A - IntronicSNV - 13/57 1
17-29542278-C-T c.1527+675C>T - IntronicSNV - 13/57 1
17-29542762-C-T c.1527+1159C>T - IntronicSNV - 13/57 1
17-29546023-A-T c.1528A>T p.N510Y Missense 14/58 - 1
17-29546023-GAATCCAAGAAAACAGGGGCCCGAAACCCAAGGCAGTACAGCAGAATTAATTACAGGGCT-G c.1528_1586del p.N510Rfs*28 InFrameDeletion 14/58 - 1
17-29546024-A-G c.1529A>G p.N510S Missense 14/58 - 1
17-29546027-C-CA c.1534dup p.R512Kfs*46 Frameshift 14/58 - 1
17-29546035-C-T c.1540C>T p.Q514* Nonsense 14/58 - 2
17-29546035-CAG-TTT c.1540_1542delinsTTT p.Q514F Missense 14/58 - 1
17-29546036-CAG-C c.1541_1542del p.Q514Rfs*43 Frameshift 14/58 - 9
17-29546036-A-C c.1541A>C p.Q514P Missense 14/58 - 1
17-29546039-G-C c.1544G>C p.G515A Missense 14/58 - 2
17-29546036-AG-A c.1545del p.E517Kfs*9 Frameshift 14/58 - 2
17-29546040-G-T c.1545G>T p.G515= Synonymous 14/58 - 1
17-29546040-G-A c.1545G>A p.G515= Synonymous 14/58 - 2
17-29546040-G-C c.1545G>C p.G515= Synonymous 14/58 - 1
17-29546040-GC-T c.1545_1546delinsT p.E517Kfs*9 Frameshift 14/58 - 1
17-29546041-C-T c.1546C>T p.P516S Missense 14/58 - 3
17-29546042-C-CA c.1547_1548insA p.E517Rfs*41 Frameshift 14/58 - 1
17-29546044-G-T c.1549G>T p.E517* Nonsense 14/58 - 3
17-29546044-G-A c.1549G>A p.E517K Missense 14/58 - 2
17-29546050-C-T c.1555C>T p.Q519* Nonsense 14/58 - 6
17-29546051-A-C c.1556A>C p.Q519P Missense 14/58 - 2
17-29546057-G-T c.1562G>T p.S521I Missense 14/58 - 1
17-29546059-A-G c.1564A>G p.T522A Missense 14/58 - 1
17-29546064-A-C c.1569A>C p.A523= Synonymous 14/58 - 1
17-29546064-A-G c.1569A>G p.A523= Synonymous 14/58 - 1
17-29546064-A-T c.1569A>T p.A523= Synonymous 14/58 - 1
17-29546064-A-AT c.1569_1570insT p.E524* Nonsense 14/58 - 1
17-29546065-G-A c.1570G>A p.E524K Missense 14/58 - 3
17-29546065-G-C c.1570G>C p.E524Q Missense 14/58 - 1
17-29546068-TT-AG c.1573_1574delinsAG p.L525R Missense 14/58 - 1
17-29546072-T-G c.1577T>G p.I526S Missense 14/58 - 3
17-29546073-T-G c.1578T>G p.I526M Missense 14/58 - 1
17-29546074-A-G c.1579A>G p.T527A Missense 14/58 - 1
17-29546075-C-T c.1580C>T p.T527I Missense 14/58 - 1
17-29546083-G-A c.1588G>A p.V530I Missense 14/58 - 1
17-29546086-CA-C c.1593del p.Q531Hfs*25 Frameshift 14/58 - 1
17-29546092-G-T c.1597G>T p.V533F Missense 14/58 - 1
17-29546094-C-G c.1599C>G p.V533= Synonymous 14/58 - 1
17-29546098-C-T c.1603C>T p.Q535* Nonsense 14/58 - 6
17-29546099-A-G c.1604A>G p.Q535R Missense 14/58 - 1
17-29546111-C-G c.1616C>G p.P539R Missense 14/58 - 1
17-29546119-G-A c.1624G>A p.A542T Missense 14/58 - 2
17-29546121-CT-C c.1626del p.Q543Rfs*13 Frameshift 14/58 - 1
17-29546122-C-T c.1627C>T p.Q543* Nonsense 14/58 - 1
17-29546125-G-A c.1630G>A p.E544K Missense 14/58 - 1
17-29546126-A-G c.1631A>G p.E544G Missense 14/58 - 1
17-29546128-G-A c.1633G>A p.A545T Missense 14/58 - 1
17-29546129-C-A c.1634C>A p.A545E Missense 14/58 - 1
17-29546131-AATGGAGGTAAGGGGAAAATGAATTCCATGTTCTTGAAGGAAAGAT-A c.1636_1641+39del - SpliceDonorDeletion 14/58 14/57 1
17-29546131-A-G c.1636A>G p.M546V Missense 14/58 - 1
17-29546134-G-T c.1639G>T p.E547* Nonsense 14/58 - 1
17-29546137-G-A c.1641+1G>A - IntronicSNV - 14/57 2
17-29546138-T-G c.1641+2T>G - IntronicSNV - 14/57 1
17-29546150-G-A c.1641+14G>A - IntronicSNV - 14/57 1
17-29546175-T-C c.1641+39T>C - IntronicSNV - 14/57 1
17-29546543-C-T c.1641+407C>T - IntronicSNV - 14/57 1
17-29548419-A-G c.1642-449A>G - IntronicSNV - 14/57 1
17-29548868-G-T c.1642G>T p.A548S Missense 15/58 - 1
17-29548866-A-AG c.1642dup p.A548Gfs*10 SpliceAcceptorInsertion 15/58 - 1
17-29548869-GCTCTGCTGGTTCTTCATCAGTTAGATAGCATTGATTTGTGGAATCCTGATGCTCCTGTA-G c.1643_1701del p.A548Gfs*7 SpliceAcceptorDeletion 15/58 - 2
17-29548868-GCT-G c.1645_1646del p.L549Afs*8 Frameshift 15/58 - 1
17-29548871-C-G c.1645C>G p.L549V Missense 15/58 - 1
17-29548874-C-A c.1648C>A p.L550M Missense 15/58 - 1
17-29548875-T-C c.1649T>C p.L550P Missense 15/58 - 1
17-29548874-C-CT c.1649dup p.V551Gfs*7 Frameshift 15/58 - 1
17-29548880-C-T c.1654C>T p.L552F Missense 15/58 - 1
17-29548881-T-C c.1655T>C p.L552P Missense 15/58 - 3
17-29548881-T-G c.1655T>G p.L552R Missense 15/58 - 1
17-29548883-C-T c.1657C>T p.H553Y Missense 15/58 - 1
17-29548883-C-A c.1657C>A p.H553N Missense 15/58 - 1
17-29548884-A-G c.1658A>G p.H553R Missense 15/58 - 2
17-29548884-A-C c.1658A>C p.H553P Missense 15/58 - 2
17-29548886-C-T c.1660C>T p.Q554* Nonsense 15/58 - 2
17-29548886-C-G c.1660C>G p.Q554E Missense 15/58 - 1
17-29548888-G-T c.1662G>T p.Q554H Missense 15/58 - 2
17-29548888-G-C c.1662G>C p.Q554H Missense 15/58 - 2
17-29548888-AG-A c.1662del p.Q554Hfs*2 Frameshift 15/58 - 1
17-29548886-CAGTT-C c.1663_1666del p.L555Ifs*12 Frameshift 15/58 - 1
17-29548893-A-G c.1667A>G p.D556G Missense 15/58 - 1
17-29548898-A-C c.1672A>C p.I558L Missense 15/58 - 1
17-29548899-T-C c.1673T>C p.I558T Missense 15/58 - 1
17-29548905-T-A c.1679T>A p.L560* Nonsense 15/58 - 1
17-29548907-T-C c.1681T>C p.W561R Missense 15/58 - 1
17-29548908-G-A c.1682G>A p.W561* Nonsense 15/58 - 1
17-29548909-G-A c.1683G>A p.W561* Nonsense 15/58 - 1
17-29548911-ATCCTGATGCTCCTGTAGAAACATTTTGGGAGATTAGGTATATG-A c.1687_1721+8del - SpliceDonorDeletion 15/58 15/57 1
17-29548919-G-A c.1693G>A p.A565T Missense 15/58 - 1
17-29548919-G-T c.1693G>T p.A565S Missense 15/58 - 1
17-29548918-T-TG c.1693dup p.A565Gfs*10 Frameshift 15/58 - 1
17-29548922-C-T c.1696C>T p.P566S Missense 15/58 - 1
17-29548938-G-A c.1712G>A p.W571* Nonsense 15/58 - 1
17-29548939-G-A c.1713G>A p.W571* Nonsense 15/58 - 5
17-29548946-A-G c.1720A>G p.S574G Missense 15/58 - 1
17-29548946-A-C c.1720A>C p.S574R Missense 15/58 - 1
17-29548947-G-A c.1721G>A p.S574N Missense 15/58 - 3
17-29548947-G-C c.1721G>C p.S574T Missense 15/58 - 1
17-29548950-A-G c.1721+3A>G - IntronicSNV - 15/57 2
17-29549019-C-T c.1721+72C>T - IntronicSNV - 15/57 1
17-29550462-C-G c.1722C>G p.S574R Missense 16/58 - 2
17-29550464-C-A c.1724C>A p.S575* Nonsense 16/58 - 2
17-29550464-C-G c.1724C>G p.S575* Nonsense 16/58 - 1
17-29550466-C-T c.1726C>T p.Q576* Nonsense 16/58 - 1
17-29550467-A-G c.1727A>G p.Q576R Missense 16/58 - 1
17-29550471-G-C c.1731G>C p.M577I Missense 16/58 - 1
17-29550471-G-A c.1731G>A p.M577I Missense 16/58 - 1
17-29550471-G-T c.1731G>T p.M577I Missense 16/58 - 1
17-29550473-T-G c.1733T>G p.L578R Missense 16/58 - 2
17-29550473-T-C c.1733T>C p.L578P Missense 16/58 - 1
17-29550472-C-CT c.1738dup p.Y580Lfs*8 Frameshift 16/58 - 3
17-29550481-A-AT c.1742dup p.C582Lfs*6 Frameshift 16/58 - 2
17-29550485-G-T c.1745G>T p.C582F Missense 16/58 - 1
17-29550488-A-G c.1748A>G p.K583R Missense 16/58 - 5
17-29550493-TTAAC-T c.1756_1759del p.T586Vfs*18 Frameshift 16/58 - 11
17-29550495-AACT-A c.1757_1759del p.T586del InFrameDeletion 16/58 - 1
17-29550502-C-T c.1762C>T p.H588Y Missense 16/58 - 2
17-29550505-C-T c.1765C>T p.Q589* Nonsense 16/58 - 2
17-29550506-A-G c.1766A>G p.Q589R Missense 16/58 - 1
17-29550505-CAAATGCTTAGTAGCACAGAAATTCTCAAGTGGTTGCGGGAAATATTGATCTGCAGGAAT-C c.1770_1828del p.M590Ifs*4 Frameshift 16/58 - 1
17-29550512-T-C c.1772T>C p.L591P Missense 16/58 - 1
17-29550515-G-A c.1775G>A p.S592N Missense 16/58 - 1
17-29550523-G-T c.1783G>T p.E595* Nonsense 16/58 - 3
17-29550523-G-A c.1783G>A p.E595K Missense 16/58 - 1
17-29550521-CAG-C c.1783_1784del p.E595Nfs*14 Frameshift 16/58 - 1
17-29550529-C-G c.1789C>G p.L597V Missense 16/58 - 3
17-29550529-C-T c.1789C>T p.L597F Missense 16/58 - 1
17-29550530-TC-AA c.1790_1791delinsAA p.L597Q Missense 16/58 - 1
17-29550530-T-G c.1790T>G p.L597R Missense 16/58 - 2
17-29550530-T-C c.1790T>C p.L597P Missense 16/58 - 1
17-29550532-A-T c.1792A>T p.K598* Nonsense 16/58 - 1
17-29550533-A-G c.1793A>G p.K598R Missense 16/58 - 1
17-29550537-G-A c.1797G>A p.W599* Nonsense 16/58 - 2
17-29550539-T-A c.1799T>A p.L600* Nonsense 16/58 - 2
17-29550541-C-T c.1801C>T p.R601W Missense 16/58 - 1
17-29550550-T-C c.1810T>C p.L604= Synonymous 16/58 - 1
17-29550551-T-A c.1811T>A p.L604* Nonsense 16/58 - 1
17-29550559-AGG-TGT c.1819_1821delinsTGT p.R607C Missense 16/58 - 1
17-29550563-A-C c.1823A>C p.N608T Missense 16/58 - 1
17-29550567-ATTTC-A c.1830_1833del p.L612Kfs*18 Frameshift 16/58 - 1
17-29550571-C-T c.1831C>T p.L611F Missense 16/58 - 2
17-29550571-C-G c.1831C>G p.L611V Missense 16/58 - 1
17-29550571-CT-C c.1833del p.N614Ifs*17 Frameshift 16/58 - 1
17-29550577-TAAAAA-T c.1837_1841del p.K613* Frameshift 16/58 - 1
17-29550580-A-ATTTT c.1840_1841insTTTT p.N614Ifs*3 Frameshift 16/58 - 1
17-29550581-A-C c.1841A>C p.N614T Missense 16/58 - 1
17-29550585-G-A c.1845G>A p.K615= Synonymous 16/58 - 1
17-29550585-G-C c.1845G>C p.K615N Missense 16/58 - 1
17-29550585-G-T c.1845G>T p.K615N Missense 16/58 - 2
17-29550586-G-T c.1845+1G>T - IntronicSNV - 16/57 1
17-29550586-G-A c.1845+1G>A - IntronicSNV - 16/57 1
17-29550598-A-T c.1845+13A>T - IntronicSNV - 16/57 1
17-29550603-T-A c.1845+18T>A - IntronicSNV - 16/57 1
17-29552074-C-T c.1846-39C>T - IntronicSNV - 16/57 1
17-29552113-C-T c.1846C>T p.Q616* Nonsense 17/58 - 5
17-29552113-CA-GG c.1846_1847delinsGG p.Q616G Missense 17/58 - 1
17-29552113-C-G c.1846C>G p.Q616E Missense 17/58 - 1
17-29552118-A-AT c.1851_1852insT p.D618* Nonsense 17/58 - 1
17-29552120-A-G c.1853A>G p.D618G Missense 17/58 - 2
17-29552126-G-T c.1859G>T p.S620I Missense 17/58 - 1
17-29552126-G-GTA c.1860_1861insAT p.S621Ifs*11 Frameshift 17/58 - 1
17-29552128-TC-T c.1863del p.C622Vfs*9 Frameshift 17/58 - 1
17-29552132-G-T c.1865G>T p.C622F Missense 17/58 - 1
17-29552133-T-A c.1866T>A p.C622* Nonsense 17/58 - 1
17-29552134-C-T c.1867C>T p.H623Y Missense 17/58 - 1
17-29552137-T-G c.1870T>G p.F624V Missense 17/58 - 1
17-29552142-C-T c.1875C>T p.L625= Synonymous 17/58 - 1
17-29552143-C-A c.1876C>A p.L626I Missense 17/58 - 2
17-29552143-C-T c.1876C>T p.L626F Missense 17/58 - 1
17-29552144-T-C c.1877T>C p.L626P Missense 17/58 - 1
17-29552143-C-CT c.1882dup p.Y628Lfs*6 Frameshift 17/58 - 3
17-29552143-CT-C c.1882del p.Y628Tfs*3 Frameshift 17/58 - 2
17-29552150-A-G c.1883A>G p.Y628C Missense 17/58 - 1
17-29552150-A-TG c.1883delinsTG p.Y628Lfs*6 Frameshift 17/58 - 1
17-29552151-C-CA c.1884_1885insA p.G629Rfs*5 Frameshift 17/58 - 1
17-29552152-G-A c.1885G>A p.G629R Missense 17/58 - 17
17-29552152-G-C c.1885G>C p.G629R Missense 17/58 - 3
17-29552151-CG-C c.1888del p.V630* Frameshift 17/58 - 2
17-29552156-T-A c.1889T>A p.V630E Missense 17/58 - 1
17-29552157-A-C c.1890A>C p.V630= Synonymous 17/58 - 1
17-29552166-T-TTA c.1899_1900insTA p.I634* Nonsense 17/58 - 1
17-29552167-TATTCCTTC-T c.1900_1907del p.I634* Frameshift 17/58 - 3
17-29552168-T-C c.1901T>C p.I634T Missense 17/58 - 1
17-29552172-TTC-T c.1907_1908del p.S636* Frameshift 17/58 - 1
17-29552178-T-G c.1911T>G p.S637R Missense 17/58 - 1
17-29552178-T-A c.1911T>A p.S637R Missense 17/58 - 1
17-29552176-A-C c.1909A>C p.S637R Missense 17/58 - 1
17-29552179-G-T c.1912G>T p.G638* Nonsense 17/58 - 1
17-29552186-C-T c.1919C>T p.T640I Missense 17/58 - 1
17-29552188-A-G c.1921A>G p.S641G Missense 17/58 - 1
17-29552189-G-A c.1922G>A p.S641N Missense 17/58 - 1
17-29552191-C-T c.1924C>T p.Q642* Nonsense 17/58 - 1
17-29552200-A-G c.1933A>G p.M645V Missense 17/58 - 2
17-29552200-A-T c.1933A>T p.M645L Missense 17/58 - 1
17-29552203-G-T c.1936G>T p.D646Y Missense 17/58 - 1
17-29552206-C-T c.1939C>T p.H647Y Missense 17/58 - 1
17-29552209-G-T c.1942G>T p.E648* Nonsense 17/58 - 1
17-29552209-G-A c.1942G>A p.E648K Missense 17/58 - 1
17-29552210-AAG-A c.1945_1946del p.E649Ifs*20 Frameshift 17/58 - 1
17-29552212-G-T c.1945G>T p.E649* Nonsense 17/58 - 3
17-29552216-T-TA c.1950dup p.L651Tfs*19 Frameshift 17/58 - 1
17-29552221-C-T c.1954C>T p.R652C Missense 17/58 - 1
17-29552222-G-A c.1955G>A p.R652H Missense 17/58 - 3
17-29552227-C-T c.1960C>T p.P654S Missense 17/58 - 1
17-29552228-C-A c.1961C>A p.P654H Missense 17/58 - 1
17-29552239-C-T c.1972C>T p.L658F Missense 17/58 - 1
17-29552242-CCG-C c.1975_1976del p.R659Efs*10 Frameshift 17/58 - 1
17-29552243-G-A c.1976G>A p.R659Q Missense 17/58 - 1
17-29552243-G-T c.1976G>T p.R659L Missense 17/58 - 1
17-29552244-G-GT c.1977_1978insT p.K660* Nonsense 17/58 - 1
17-29552252-A-G c.1985A>G p.K662R Missense 17/58 - 2
17-29552254-G-A c.1987G>A p.G663R Missense 17/58 - 1
17-29552254-G-C c.1987G>C p.G663R Missense 17/58 - 1
17-29552258-A-AC c.1992dup p.S665Lfs*5 Frameshift 17/58 - 1
17-29552261-C-T c.1994C>T p.S665F Missense 17/58 - 2
17-29552264-C-G c.1997C>G p.S666C Missense 17/58 - 1
17-29552264-C-T c.1997C>T p.S666F Missense 17/58 - 1
17-29552466-G-A c.2001+198G>A - IntronicSNV - 17/57 1
17-29552466-G-T c.2001+198G>T - IntronicSNV - 17/57 1
17-29553465-G-T c.2014G>T p.G672* Nonsense 18/58 - 2
17-29553468-TG-GC c.2017_2018delinsGC p.C673A Missense 18/58 - 1
17-29553470-GC-G c.2019del p.C673* Frameshift 18/58 - 1
17-29553470-C-CT c.2019_2020insT p.S674* Nonsense 18/58 - 1
17-29553474-G-T c.2023G>T p.G675* Nonsense 18/58 - 2
17-29553477-A-AT c.2026_2027insT p.T676Ifs*24 Frameshift 18/58 - 1
17-29553480-C-T c.2029C>T p.P677S Missense 18/58 - 2
17-29553482-CCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCCCTGTACATGTTTCTGTGGA-C c.2031_2089del p.I679* InFrameDeletion 18/58 - 1
17-29553483-C-A c.2032C>A p.P678T Missense 18/58 - 1
17-29553477-A-AC c.2033dup p.I679Dfs*21 Frameshift 18/58 - 34
17-29553477-AC-A c.2033del p.P678Rfs*10 Frameshift 18/58 - 8
17-29553484-C-T c.2033C>T p.P678L Missense 18/58 - 3
17-29553485-G-A c.2034G>A p.P678= Synonymous 18/58 - 9
17-29553484-C-CG c.2034dup p.I679Dfs*21 Frameshift 18/58 - 1
17-29553485-G-C c.2034G>C p.P678= Synonymous 18/58 - 5
17-29553485-G-GA c.2035dup p.I679Nfs*21 Frameshift 18/58 - 1
17-29553492-C-T c.2041C>T p.R681* Nonsense 18/58 - 39
17-29553493-G-A c.2042G>A p.R681Q Missense 18/58 - 1
17-29553495-C-T c.2044C>T p.Q682* Nonsense 18/58 - 4
17-29553501-C-T c.2050C>T p.Q684* Nonsense 18/58 - 2
17-29553513-G-C c.2062G>C p.E688Q Missense 18/58 - 1
17-29553513-G-T c.2062G>T p.E688* Nonsense 18/58 - 1
17-29553514-A-C c.2063A>C p.E688A Missense 18/58 - 1
17-29553517-GT-G c.2066del p.V689Gfs*59 Frameshift 18/58 - 1
17-29553520-C-A c.2069C>A p.A690D Missense 18/58 - 1
17-29553523-T-G c.2072T>G p.L691R Missense 18/58 - 1
17-29553527-C-G c.2076C>G p.Y692* Nonsense 18/58 - 1
17-29553529-TGTTTCTGTG-T c.2080_2088del p.F694_W696del InFrameDeletion 18/58 - 2
17-29553534-C-T c.2083C>T p.L695= Synonymous 18/58 - 1
17-29553537-T-C c.2086T>C p.W696R Missense 18/58 - 1
17-29553535-TGTG-T c.2086_2088del p.W696del InFrameDeletion 18/58 - 1
17-29553534-CTG-C c.2086_2087del p.W696Efs*3 Frameshift 18/58 - 1
17-29553538-G-A c.2087G>A p.W696* Nonsense 18/58 - 9
17-29553539-G-A c.2088G>A p.W696* Nonsense 18/58 - 7
17-29553537-TG-T c.2088del p.W696* Frameshift 18/58 - 2
17-29553544-CCT-C c.2093_2094del p.P698Rfs*3 Frameshift 18/58 - 1
17-29553550-C-T c.2099C>T p.T700I Missense 18/58 - 1
17-29553555-GC-CA c.2104_2105delinsCA p.A702H Missense 18/58 - 1
17-29553557-CT-C c.2106del p.V703Ffs*45 Frameshift 18/58 - 1
17-29553558-G-A c.2107G>A p.V703I Missense 18/58 - 1
17-29553568-C-T c.2117C>T p.A706V Missense 18/58 - 1
17-29553568-C-A c.2117C>A p.A706D Missense 18/58 - 1
17-29553576-T-C c.2125T>C p.C709R Missense 18/58 - 2
17-29553580-T-TC c.2131dup p.R711Pfs*5 Frameshift 18/58 - 1
17-29553580-TC-T c.2131del p.R711Afs*37 Frameshift 18/58 - 1
17-29553582-C-T c.2131C>T p.R711C Missense 18/58 - 1
17-29553583-G-A c.2132G>A p.R711H Missense 18/58 - 1
17-29553592-G-C c.2141G>C p.C714S Missense 18/58 - 1
17-29553590-CTG-C c.2142_2143del p.C714* Frameshift 18/58 - 1
17-29553597-G-C c.2146G>C p.E716Q Missense 18/58 - 1
17-29553598-A-T c.2147A>T p.E716V Missense 18/58 - 1
17-29553603-G-T c.2152G>T p.D718Y Missense 18/58 - 1
17-29553605-T-TA c.2155dup p.I719Nfs*7 Frameshift 18/58 - 1
17-29553607-T-C c.2156T>C p.I719T Missense 18/58 - 2
17-29553609-C-T c.2158C>T p.R720W Missense 18/58 - 1
17-29553610-G-A c.2159G>A p.R720Q Missense 18/58 - 3
17-29553615-GG-AT c.2164_2165delinsAT p.G722M Missense 18/58 - 1
17-29553615-G-A c.2164G>A p.G722R Missense 18/58 - 1
17-29553615-G-C c.2164G>C p.G722R Missense 18/58 - 1
17-29553616-G-A c.2165G>A p.G722E Missense 18/58 - 3
17-29553614-TG-T c.2167del p.V723Wfs*25 Frameshift 18/58 - 1
17-29553624-G-T c.2173G>T p.E725* Nonsense 18/58 - 2
17-29553629-G-C c.2178G>C p.V726= Synonymous 18/58 - 1
17-29553634-T-G c.2183T>G p.V728G Missense 18/58 - 1
17-29553636-C-T c.2185C>T p.H729Y Missense 18/58 - 1
17-29553637-A-AT c.2187dup p.N730* Nonsense 18/58 - 1
17-29553638-T-A c.2187T>A p.H729Q Missense 18/58 - 1
17-29553638-T-G c.2187T>G p.H729Q Missense 18/58 - 1
17-29553639-A-C c.2188A>C p.N730H Missense 18/58 - 1
17-29553639-A-T c.2188A>T p.N730Y Missense 18/58 - 1
17-29553640-A-C c.2189A>C p.N730T Missense 18/58 - 1
17-29553641-C-CG c.2190_2191insG p.L731Afs*6 Frameshift 18/58 - 1
17-29553640-ACCTCTTGC-A c.2192_2199del p.L731Qfs*3 Frameshift 18/58 - 1
17-29553645-TTGCCCAAC-T c.2196_2203del p.P733* Frameshift 18/58 - 1
17-29553647-G-T c.2196G>T p.L732F Missense 18/58 - 1
17-29553647-G-C c.2196G>C p.L732F Missense 18/58 - 1
17-29553648-GCCCAACTATAACACATTC-G c.2197_2214del p.P733_F738del InFrameDeletion 18/58 - 1
17-29553649-C-T c.2198C>T p.P733L Missense 18/58 - 1
17-29553654-T-C c.2203T>C p.Y735H Missense 18/58 - 1
17-29553655-A-AT c.2205dup p.N736* Nonsense 18/58 - 2
17-29553660-CA-C c.2209del p.T737Hfs*11 Frameshift 18/58 - 2
17-29553662-A-AT c.2213dup p.M739Hfs*29 Frameshift 18/58 - 1
17-29553673-T-A c.2222T>A p.F741Y Missense 18/58 - 1
17-29553679-C-G c.2228C>G p.S743C Missense 18/58 - 1
17-29553684-CA-C c.2233del p.S745Afs*3 Frameshift 18/58 - 1
17-29553690-A-G c.2239A>G p.M747V Missense 18/58 - 1
17-29553690-A-C c.2239A>C p.M747L Missense 18/58 - 1
17-29553690-A-T c.2239A>T p.M747L Missense 18/58 - 1
17-29553696-T-TA c.2245_2246insA p.S749Yfs*19 Frameshift 18/58 - 1
17-29553697-C-A c.2246C>A p.S749* Nonsense 18/58 - 1
17-29553697-C-G c.2246C>G p.S749* Nonsense 18/58 - 2
17-29553696-TCAA-T c.2248_2250del p.T750del InFrameDeletion 18/58 - 1
17-29553697-CA-C c.2248del p.T750Qfs*10 Frameshift 18/58 - 1
17-29553701-A-G c.2250A>G p.T750= Synonymous 18/58 - 1
17-29553702-G-T c.2251G>T p.G751* Nonsense 18/58 - 1
17-29553702-G-C c.2251G>C p.G751R Missense 18/58 - 1
17-29553702-G-A c.2251G>A p.G751R Missense 18/58 - 1
17-29553703-G-A c.2251+1G>A - IntronicSNV - 18/57 4
17-29553704-T-G c.2251+2T>G - IntronicSNV - 18/57 1
17-29554165-G-A c.2252-71G>A - IntronicSNV - 18/57 1
17-29554205-A-G c.2252-31A>G - IntronicSNV - 18/57 1
17-29554205-A-T c.2252-31A>T - IntronicSNV - 18/57 1
17-29554236-G-T c.2252G>T p.G751V Missense 19/58 - 2
17-29554236-G-C c.2252G>C p.G751A Missense 19/58 - 1
17-29554237-A-AC c.2253_2254insC p.R752Qfs*16 SpliceAcceptorInsertion 19/58 - 1
17-29554237-A-AG c.2253_2254insG p.R752Efs*16 SpliceAcceptorInsertion 19/58 - 1
17-29554237-A-AT c.2253_2254insT p.R752* SpliceAcceptorInsertion 19/58 - 1
17-29554236-G-GA c.2254dup p.R752Kfs*16 Frameshift 19/58 - 1
17-29554240-A-G c.2256A>G p.R752= Synonymous 19/58 - 1
17-29554242-GC-G c.2258del p.A753Efs*7 Frameshift 19/58 - 1
17-29554247-CT-AG c.2263_2264inv p.L755S Missense 19/58 - 1
17-29554250-C-T c.2266C>T p.Q756* Nonsense 19/58 - 4
17-29554250-TC-T c.2266del p.Q756Rfs*4 Frameshift 19/58 - 1
17-29554253-A-G c.2269A>G p.K757E Missense 19/58 - 1
17-29554257-G-GT c.2273_2274insT p.R758Sfs*10 Frameshift 19/58 - 1
17-29554257-G-C c.2273G>C p.R758T Missense 19/58 - 1
17-29554259-GTGA-G c.2278_2280del p.M760del InFrameDeletion 19/58 - 1
17-29554263-T-C c.2279T>C p.M760T Missense 19/58 - 1
17-29554264-G-A c.2280G>A p.M760I Missense 19/58 - 1
17-29554267-CA-C c.2283del p.L762Cfs*2 Frameshift 19/58 - 1
17-29554271-C-CG c.2287_2288insG p.L763Rfs*5 Frameshift 19/58 - 1
17-29554272-T-C c.2288T>C p.L763P Missense 19/58 - 2
17-29554277-C-T c.2293C>T p.R765C Missense 19/58 - 2
17-29554278-G-A c.2294G>A p.R765H Missense 19/58 - 5
17-29554278-G-T c.2294G>T p.R765L Missense 19/58 - 1
17-29554281-T-G c.2297T>G p.I766S Missense 19/58 - 1
17-29554287-A-AT c.2304dup p.P769Sfs*7 Frameshift 19/58 - 1
17-29554288-TC-T c.2307del p.T770Lfs*21 Frameshift 19/58 - 2
17-29554288-T-TC c.2307dup p.T770Hfs*6 Frameshift 19/58 - 1
17-29554299-G-A c.2315G>A p.G772E Missense 19/58 - 1
17-29554303-C-G c.2319C>G p.N773K Missense 19/58 - 1
17-29554303-C-A c.2319C>A p.N773K Missense 19/58 - 1
17-29554302-ACACTGAGGTATG-A c.2320_2325+6del - SpliceDonorDeletion 19/58 19/57 1
17-29554304-A-C c.2320A>C p.T774P Missense 19/58 - 1
17-29554309-G-C c.2325G>C p.E775D Missense 19/58 - 1
17-29554309-G-A c.2325G>A p.E775= Synonymous 19/58 - 1
17-29554309-G-T c.2325G>T p.E775D Missense 19/58 - 2
17-29554310-G-T c.2325+1G>T - IntronicSNV - 19/57 2
17-29554310-G-A c.2325+1G>A - IntronicSNV - 19/57 2
17-29554541-G-A c.2326G>A p.A776T Missense 20/58 - 2
17-29554544-T-A c.2329T>A p.W777R Missense 20/58 - 2
17-29554544-T-C c.2329T>C p.W777R Missense 20/58 - 1
17-29554545-G-A c.2330G>A p.W777* Nonsense 20/58 - 1
17-29554546-G-A c.2331G>A p.W777* Nonsense 20/58 - 5
17-29554550-G-T c.2335G>T p.D779Y Missense 20/58 - 1
17-29554553-A-C c.2338A>C p.T780P Missense 20/58 - 2
17-29554554-C-G c.2339C>G p.T780R Missense 20/58 - 1
17-29554554-ACACATGCAAAATGGGAAC-A c.2339_2356del p.T780_Q786delinsK MultiAAMissense 20/58 - 1
17-29554554-C-A c.2339C>A p.T780K Missense 20/58 - 1
17-29554554-CACATGCAAAATGGGAACA-C c.2341_2358del p.H781_Q786del InFrameDeletion 20/58 - 1
17-29554554-CACATGCA-C c.2341_2347del p.H781Nfs*8 Frameshift 20/58 - 1
17-29554557-A-T c.2342A>T p.H781L Missense 20/58 - 1
17-29554566-G-A c.2351G>A p.W784* Nonsense 20/58 - 2
17-29554567-G-C c.2352G>C p.W784C Missense 20/58 - 2
17-29554567-G-A c.2352G>A p.W784* Nonsense 20/58 - 3
17-29554565-TGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAAGCCAAAATGGAAGATGGCCAG-T c.2352_2409+1del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 20/58 20/57 1
17-29554567-G-T c.2352G>T p.W784C Missense 20/58 - 1
17-29554565-T-TG c.2353dup p.E785Gfs*9 Frameshift 20/58 - 1
17-29554568-G-T c.2353G>T p.E785* Nonsense 20/58 - 1
17-29554571-AC-A c.2356del p.Q786Kfs*5 Frameshift 20/58 - 1
17-29554571-C-T c.2356C>T p.Q786* Nonsense 20/58 - 2
17-29554583-CTA-TTT c.2368_2370delinsTTT p.L790F Missense 20/58 - 1
17-29554586-A-AT c.2372dup p.L792Pfs*2 Frameshift 20/58 - 1
17-29554589-C-T c.2374C>T p.L792F Missense 20/58 - 1
17-29554590-T-C c.2375T>C p.L792P Missense 20/58 - 1
17-29554589-CT-C c.2376del p.N793Tfs*28 Frameshift 20/58 - 1
17-29554591-T-TA c.2378dup p.N793Kfs*14 Frameshift 20/58 - 1
17-29554596-A-G c.2381A>G p.Y794C Missense 20/58 - 1
17-29554597-T-A c.2382T>A p.Y794* Nonsense 20/58 - 1
17-29554597-T-G c.2382T>G p.Y794* Nonsense 20/58 - 1
17-29554599-C-T c.2384C>T p.P795L Missense 20/58 - 1
17-29554601-A-G c.2386A>G p.K796E Missense 20/58 - 1
17-29554599-CA-C c.2388del p.A797Pfs*24 Frameshift 20/58 - 1
17-29554605-C-G c.2390C>G p.A797G Missense 20/58 - 1
17-29554608-A-G c.2393A>G p.K798R Missense 20/58 - 3
17-29554611-T-C c.2396T>C p.M799T Missense 20/58 - 1
17-29554613-G-T c.2398G>T p.E800* Nonsense 20/58 - 1
17-29554618-TG-T c.2405del p.G802Afs*19 Frameshift 20/58 - 1
17-29554622-C-T c.2407C>T p.Q803* Nonsense 20/58 - 4
17-29554622-C-A c.2407C>A p.Q803K Missense 20/58 - 1
17-29554625-G-T c.2409+1G>T - IntronicSNV - 20/57 1
17-29554704-C-T c.2409+80C>T - IntronicSNV - 20/57 1
17-29555971-A-G c.2410-72A>G - IntronicSNV - 20/57 1
17-29556016-T-C c.2410-27T>C - IntronicSNV - 20/57 1
17-29556044-GCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGA-G c.2411_2469del p.A804Gfs*7 InFrameDeletion 21/58 - 1
17-29556055-CTT-TGG c.2422_2424delinsTGG p.L808W Missense 21/58 - 1
17-29556055-C-T c.2422C>T p.L808F Missense 21/58 - 1
17-29556055-CT-C c.2424del p.H809Tfs*12 Frameshift 21/58 - 1
17-29556062-A-G c.2429A>G p.K810R Missense 21/58 - 1
17-29556065-C-T c.2432C>T p.T811I Missense 21/58 - 1
17-29556069-T-G c.2436T>G p.I812M Missense 21/58 - 1
17-29556072-T-TA c.2441dup p.R815Efs*16 Frameshift 21/58 - 1
17-29556076-AG-A c.2445del p.R815Sfs*6 Frameshift 21/58 - 1
17-29556079-C-T c.2446C>T p.R816* Nonsense 21/58 - 19
17-29556079-CGA-TGT c.2446_2448delinsTGT p.R816C Missense 21/58 - 1
17-29556083-T-TG c.2451dup p.S818Vfs*13 Frameshift 21/58 - 1
17-29556085-GT-G c.2452del p.S818Pfs*3 Frameshift 21/58 - 1
17-29556085-T-TA c.2452_2453insA p.S818Yfs*13 Frameshift 21/58 - 1
17-29556089-A-T c.2456A>T p.H819L Missense 21/58 - 1
17-29556094-A-G c.2461A>G p.S821G Missense 21/58 - 1
17-29556097-G-T c.2464G>T p.G822* Nonsense 21/58 - 1
17-29556100-G-T c.2467G>T p.G823* Nonsense 21/58 - 2
17-29556104-G-C c.2471G>C p.G824A Missense 21/58 - 1
17-29556109-A-G c.2476A>G p.I826V Missense 21/58 - 1
17-29556117-TG-T c.2484del p.L828Ffs*13 Frameshift 21/58 - 1
17-29556124-A-C c.2491A>C p.T831P Missense 21/58 - 1
17-29556136-C-T c.2503C>T p.Q835* Nonsense 21/58 - 1
17-29556139-G-C c.2506G>C p.E836Q Missense 21/58 - 1
17-29556140-A-C c.2507A>C p.E836A Missense 21/58 - 1
17-29556142-T-A c.2509T>A p.W837R Missense 21/58 - 1
17-29556142-T-C c.2509T>C p.W837R Missense 21/58 - 1
17-29556144-G-A c.2511G>A p.W837* Nonsense 21/58 - 1
17-29556154-A-C c.2521A>C p.T841P Missense 21/58 - 2
17-29556157-G-A c.2524G>A p.G842S Missense 21/58 - 1
17-29556163-C-T c.2530C>T p.L844F Missense 21/58 - 7
17-29556164-T-G c.2531T>G p.L844R Missense 21/58 - 3
17-29556164-T-A c.2531T>A p.L844H Missense 21/58 - 1
17-29556164-T-C c.2531T>C p.L844P Missense 21/58 - 1
17-29556166-T-C c.2533T>C p.C845R Missense 21/58 - 3
17-29556166-T-TG c.2534dup p.C845Wfs*20 Frameshift 21/58 - 1
17-29556167-TGTGCCCTTGGGGGAGTGTGCCTCC-T c.2534_2557del p.C845_Q853delins* MultiAAMissense 21/58 - 1
17-29556167-G-A c.2534G>A p.C845Y Missense 21/58 - 1
17-29556169-G-C c.2536G>C p.A846P Missense 21/58 - 2
17-29556170-C-A c.2537C>A p.A846D Missense 21/58 - 1
17-29556172-C-T c.2539C>T p.L847F Missense 21/58 - 2
17-29556172-C-G c.2539C>G p.L847V Missense 21/58 - 1
17-29556173-T-C c.2540T>C p.L847P Missense 21/58 - 15
17-29556173-T-G c.2540T>G p.L847R Missense 21/58 - 4
17-29556175-G-A c.2542G>A p.G848R Missense 21/58 - 13
17-29556175-G-C c.2542G>C p.G848R Missense 21/58 - 14
17-29556176-G-A c.2543G>A p.G848E Missense 21/58 - 2
17-29556177-G-A c.2544G>A p.G848= Synonymous 21/58 - 3
17-29556177-G-T c.2544G>T p.G848= Synonymous 21/58 - 1
17-29556177-G-C c.2544G>C p.G848= Synonymous 21/58 - 1
17-29556174-T-TG c.2546dup p.V850Sfs*15 Frameshift 21/58 - 3
17-29556190-C-T c.2557C>T p.Q853* Nonsense 21/58 - 2
17-29556197-G-T c.2564G>T p.R855I Missense 21/58 - 1
17-29556206-C-G c.2573C>G p.S858C Missense 21/58 - 1
17-29556218-C-G c.2585C>G p.T862S Missense 21/58 - 2
17-29556217-A-T c.2584A>T p.T862S Missense 21/58 - 1
17-29556218-C-A c.2585C>A p.T862N Missense 21/58 - 2
17-29556229-C-T c.2596C>T p.P866S Missense 21/58 - 2
17-29556230-C-T c.2597C>T p.P866L Missense 21/58 - 1
17-29556232-A-G c.2599A>G p.M867V Missense 21/58 - 1
17-29556235-G-C c.2602G>C p.G868R Missense 21/58 - 1
17-29556237-T-G c.2604T>G p.G868= Synonymous 21/58 - 1
17-29556238-C-T c.2605C>T p.P869S Missense 21/58 - 2
17-29556250-C-T c.2617C>T p.R873C Missense 21/58 - 2
17-29556250-C-G c.2617C>G p.R873G Missense 21/58 - 2
17-29556251-G-A c.2618G>A p.R873H Missense 21/58 - 1
17-29556255-G-C c.2622G>C p.K874N Missense 21/58 - 1
17-29556255-G-T c.2622G>T p.K874N Missense 21/58 - 1
17-29556257-G-A c.2624G>A p.G875D Missense 21/58 - 1
17-29556266-T-C c.2633T>C p.I878T Missense 21/58 - 1
17-29556269-C-A c.2636C>A p.S879* Nonsense 21/58 - 2
17-29556269-C-G c.2636C>G p.S879* Nonsense 21/58 - 1
17-29556283-G-T c.2650G>T p.E884* Nonsense 21/58 - 1
17-29556292-G-A c.2659G>A p.A887T Missense 21/58 - 1
17-29556293-C-T c.2660C>T p.A887V Missense 21/58 - 1
17-29556294-A-AT c.2661_2662insT p.D888* Nonsense 21/58 - 1
17-29556299-C-T c.2666C>T p.T889I Missense 21/58 - 2
17-29556299-C-G c.2666C>G p.T889R Missense 21/58 - 1
17-29556300-AC-A c.2669del p.P890Lfs*12 Frameshift 21/58 - 1
17-29556304-G-A c.2671G>A p.V891I Missense 21/58 - 2
17-29556307-CA-C c.2674del p.S892Afs*10 Frameshift 21/58 - 3
17-29556308-GCAAATTTATGGAT-G c.2677_2689del p.K893Gfs*5 Frameshift 21/58 - 1
17-29556314-T-G c.2681T>G p.F894C Missense 21/58 - 1
17-29556317-TG-T c.2686del p.D896Ifs*6 Frameshift 21/58 - 1
17-29556319-G-A c.2686G>A p.D896N Missense 21/58 - 1
17-29556322-CGG-TAT c.2689_2691delinsTAT p.R897Y Missense 21/58 - 1
17-29556322-C-T c.2689C>T p.R897W Missense 21/58 - 1
17-29556323-G-A c.2690G>A p.R897Q Missense 21/58 - 1
17-29556326-T-C c.2693T>C p.L898P Missense 21/58 - 2
17-29556338-T-G c.2705T>G p.M902R Missense 21/58 - 1
17-29556338-AT-A c.2705del p.M902Rfs*22 Frameshift 21/58 - 1
17-29556342-G-A c.2709G>A p.V903= Synonymous 21/58 - 3
17-29556345-T-A c.2712T>A p.C904* Nonsense 21/58 - 1
17-29556345-T-C c.2712T>C p.C904= Synonymous 21/58 - 1
17-29556352-G-A c.2719G>A p.E907K Missense 21/58 - 1
17-29556362-G-T c.2729G>T p.G910V Missense 21/58 - 1
17-29556367-C-T c.2734C>T p.Q912* Nonsense 21/58 - 2
17-29556367-C-G c.2734C>G p.Q912E Missense 21/58 - 1
17-29556369-A-T c.2736A>T p.Q912H Missense 21/58 - 1
17-29556369-A-C c.2736A>C p.Q912H Missense 21/58 - 1
17-29556373-C-T c.2740C>T p.R914W Missense 21/58 - 1
17-29556377-CC-TG c.2744_2745delinsTG p.T915M Missense 21/58 - 1
17-29556380-A-G c.2747A>G p.N916S Missense 21/58 - 1
17-29556383-T-A c.2750T>A p.V917D Missense 21/58 - 1
17-29556383-T-G c.2750T>G p.V917G Missense 21/58 - 1
17-29556382-G-GT c.2751dup p.K918* Nonsense 21/58 - 1
17-29556388-G-A c.2755G>A p.D919N Missense 21/58 - 1
17-29556402-A-AT c.2769_2770insT p.E924* Nonsense 21/58 - 1
17-29556403-G-T c.2770G>T p.E924* Nonsense 21/58 - 1
17-29556401-TAGAATTGAGTCCTGCTCTGTATCCAATGCTATTTAACAAATTGAAGAATACCATCAGCA-T c.2771_2829del p.E924Vfs*3 Frameshift 21/58 - 1
17-29556407-T-A c.2774T>A p.L925* Nonsense 21/58 - 1
17-29556408-TGAGTC-T c.2775_2779del p.L925Ffs*9 Frameshift 21/58 - 1
17-29556412-C-A c.2779C>A p.P927T Missense 21/58 - 1
17-29556413-C-T c.2780C>T p.P927L Missense 21/58 - 1
17-29556415-G-T c.2782G>T p.A928S Missense 21/58 - 1
17-29556416-C-T c.2783C>T p.A928V Missense 21/58 - 2
17-29556418-CT-TC c.2785_2786delinsTC p.L929S Missense 21/58 - 1
17-29556419-T-C c.2786T>C p.L929P Missense 21/58 - 1
17-29556419-T-G c.2786T>G p.L929R Missense 21/58 - 1
17-29556422-TATC-T c.2789_2791del p.Y930_P931delinsS MultiAAMissense 21/58 - 1
17-29556423-T-G c.2790T>G p.Y930* Nonsense 21/58 - 1
17-29556424-C-T c.2791C>T p.P931S Missense 21/58 - 2
17-29556425-C-T c.2792C>T p.P931L Missense 21/58 - 1
17-29556427-A-T c.2794A>T p.M932L Missense 21/58 - 1
17-29556431-T-C c.2798T>C p.L933P Missense 21/58 - 2
17-29556437-A-ACG c.2805_2806insGC p.K936Afs*3 Frameshift 21/58 - 1
17-29556439-A-T c.2806A>T p.K936* Nonsense 21/58 - 2
17-29556440-AATTGAAGAAT-A c.2809_2818del p.L937Pfs*14 Frameshift 21/58 - 1
17-29556443-T-A c.2810T>A p.L937* Nonsense 21/58 - 2
17-29556445-A-T c.2812A>T p.K938* Nonsense 21/58 - 1
17-29556451-A-G c.2818A>G p.T940A Missense 21/58 - 1
17-29556451-AC-A c.2820del p.I941Sfs*13 Frameshift 21/58 - 2
17-29556453-C-A c.2820C>A p.T940= Synonymous 21/58 - 1
17-29556453-C-G c.2820C>G p.T940= Synonymous 21/58 - 1
17-29556453-C-T c.2820C>T p.T940= Synonymous 21/58 - 1
17-29556454-A-G c.2821A>G p.I941V Missense 21/58 - 2
17-29556458-G-T c.2825G>T p.S942I Missense 21/58 - 1
17-29556459-C-T c.2826C>T p.S942= Synonymous 21/58 - 1
17-29556461-A-C c.2828A>C p.K943T Missense 21/58 - 1
17-29556462-G-GC c.2829_2830insC p.F944Lfs*3 Frameshift 21/58 - 1
17-29556466-T-C c.2833T>C p.F945L Missense 21/58 - 1
17-29556468-T-A c.2835T>A p.F945L Missense 21/58 - 1
17-29556468-T-G c.2835T>G p.F945L Missense 21/58 - 1
17-29556468-T-TA c.2835_2836insA p.D946Rfs*10 Frameshift 21/58 - 1
17-29556462-G-GT c.2835dup p.D946* Nonsense 21/58 - 1
17-29556473-C-G c.2840C>G p.S947C Missense 21/58 - 1
17-29556475-C-T c.2842C>T p.Q948* Nonsense 21/58 - 3
17-29556479-GA-AC c.2846_2847delinsAC p.G949D Missense 21/58 - 1
17-29556481-C-T c.2848C>T p.Q950* Nonsense 21/58 - 3
17-29556483-G-A c.2850G>A p.Q950= Synonymous 21/58 - 2
17-29556484-G-T c.2850+1G>T - IntronicSNV - 21/57 2
17-29556484-G-A c.2850+1G>A - IntronicSNV - 21/57 1
17-29556485-T-A c.2850+2T>A - IntronicSNV - 21/57 1
17-29556837-T-C c.2851-16T>C - IntronicSNV - 21/57 2
17-29556853-G-T c.2851G>T p.V951F Missense 22/58 - 2
17-29556855-T-A c.2853T>A p.V951= Synonymous 22/58 - 1
17-29556855-T-C c.2853T>C p.V951= Synonymous 22/58 - 1
17-29556855-T-G c.2853T>G p.V951= Synonymous 22/58 - 1
17-29556855-TTTATTGACTGA-T c.2855_2865del p.L952Yfs*19 Frameshift 22/58 - 1
17-29556860-T-A c.2858T>A p.L953* Nonsense 22/58 - 1
17-29556860-T-TA c.2858_2859insA p.T954Dfs*2 Frameshift 22/58 - 1
17-29556863-CT-TG c.2861_2862delinsTG p.T954M Missense 22/58 - 1
17-29556869-C-T c.2867C>T p.T956I Missense 22/58 - 1
17-29556873-TACTCAATTTGTAGAACAAACCATAGCTATAATGAAGAACTTGCTAGATAATCATACTGA-T c.2873_2931del p.T958Rfs*4 Frameshift 22/58 - 1
17-29556873-TACTC-T c.2873_2876del p.T958Nfs*3 Frameshift 22/58 - 1
17-29556877-C-T c.2875C>T p.Q959* Nonsense 22/58 - 3
17-29556879-AT-A c.2880del p.F960Lfs*2 Frameshift 22/58 - 1
17-29556883-G-A c.2881G>A p.V961I Missense 22/58 - 1
17-29556909-G-T c.2907G>T p.K969N Missense 22/58 - 1
17-29556917-T-C c.2915T>C p.L972P Missense 22/58 - 3
17-29556930-CT-C c.2928del p.E977Kfs*7 Frameshift 22/58 - 1
17-29556930-CTGAAGGCAGCTCT-C c.2928_2940del p.E977Nfs*3 Frameshift 22/58 - 1
17-29556931-G-T c.2929G>T p.E977* Nonsense 22/58 - 3
17-29556931-G-A c.2929G>A p.E977K Missense 22/58 - 1
17-29556938-G-T c.2936G>T p.S979I Missense 22/58 - 1
17-29556949-TC-T c.2947del p.L983* Frameshift 22/58 - 1
17-29556953-G-A c.2951G>A p.G984E Missense 22/58 - 3
17-29556955-C-T c.2953C>T p.Q985* Nonsense 22/58 - 1
17-29556954-G-GC c.2953dup p.Q985Pfs*3 Frameshift 22/58 - 1
17-29556967-G-T c.2965G>T p.E989* Nonsense 22/58 - 1
17-29556972-CAAT-C c.2970_2972del p.M992del InFrameDeletion 22/58 - 36
17-29556974-T-A c.2972T>A p.M991K Missense 22/58 - 1
17-29556972-AATG-A c.2974_2976del p.M992del InFrameDeletion 22/58 - 6
17-29556980-T-TA c.2981dup p.N994Kfs*27 Frameshift 22/58 - 1
17-29556984-AT-A c.2982del p.L995Wfs*17 Frameshift 22/58 - 1
17-29556987-G-C c.2985G>C p.L995= Synonymous 22/58 - 1
17-29556989-T-TAC c.2987_2988insAC p.R997Pfs*16 Frameshift 22/58 - 1
17-29556989-T-TC c.2988dup p.R997Qfs*24 SpliceDonorInsertion 22/58 - 1
17-29556990-C-CT c.2988_2989insT p.R997* SpliceDonorInsertion 22/58 - 1
17-29556990-C-CG c.2988_2989insG p.R997Efs*24 SpliceDonorInsertion 22/58 - 1
17-29556990-C-CA c.2989dup p.R997Kfs*24 SpliceDonorInsertion 22/58 - 1
17-29556992-G-A c.2990G>A p.R997K Missense 22/58 - 1
17-29556992-G-C c.2990G>C p.R997T Missense 22/58 - 1
17-29556993-G-T c.2990+1G>T - IntronicSNV - 22/57 2
17-29556993-G-A c.2990+1G>A - IntronicSNV - 22/57 1
17-29556994-T-G c.2990+2T>G - IntronicSNV - 22/57 1
17-29556997-G-C c.2990+5G>C - IntronicSNV - 22/57 1
17-29557143-C-T c.2991-135C>T - IntronicSNV - 22/57 1
17-29557181-T-C c.2991-97T>C - IntronicSNV - 22/57 1
17-29557276-AG-A c.2991del p.R997Sfs*15 Frameshift 23/58 - 1
17-29557279-GTATGTTCGTGTGCTTGGGAATATGGTCCATGCAATTCAAATAAAAACGAAACTGTGTCA-G c.2992_3050del p.Y998Ifs*3 InFrameDeletion 23/58 - 1
17-29557279-T-G c.2992T>G p.Y998D Missense 23/58 - 1
17-29557285-C-T c.2998C>T p.R1000C Missense 23/58 - 2
17-29557285-C-A c.2998C>A p.R1000S Missense 23/58 - 1
17-29557285-TC-T c.2998del p.R1000Vfs*12 Frameshift 23/58 - 1
17-29557286-G-A c.2999G>A p.R1000H Missense 23/58 - 2
17-29557291-C-G c.3004C>G p.L1002V Missense 23/58 - 1
17-29557291-C-T c.3004C>T p.L1002F Missense 23/58 - 1
17-29557303-G-T c.3016G>T p.V1006F Missense 23/58 - 1
17-29557315-TC-T c.3028del p.Q1010Kfs*2 Frameshift 23/58 - 1
17-29557315-C-T c.3028C>T p.Q1010* Nonsense 23/58 - 3
17-29557319-TAAAAACGA-T c.3035_3042del p.K1012Tfs*6 Frameshift 23/58 - 1
17-29557319-TA-T c.3037del p.T1013Rfs*6 Frameshift 23/58 - 1
17-29557331-T-G c.3044T>G p.L1015R Missense 23/58 - 1
17-29557331-T-A c.3044T>A p.L1015Q Missense 23/58 - 1
17-29557331-T-C c.3044T>C p.L1015P Missense 23/58 - 1
17-29557330-CTG-C c.3047_3048del p.C1016Sfs*4 Frameshift 23/58 - 1
17-29557334-G-A c.3047G>A p.C1016Y Missense 23/58 - 1
17-29557334-G-GTTGTGAAT c.3048_3049insTGTGAATT p.Q1017Cfs*5 Frameshift 23/58 - 1
17-29557336-C-T c.3049C>T p.Q1017* Nonsense 23/58 - 3
17-29557343-T-TC c.3056_3057insC p.E1020* Nonsense 23/58 - 1
17-29557345-G-C c.3058G>C p.E1020Q Missense 23/58 - 1
17-29557345-TG-T c.3058del p.E1020Kfs*2 Frameshift 23/58 - 1
17-29557358-C-T c.3071C>T p.A1024V Missense 23/58 - 1
17-29557363-A-T c.3076A>T p.R1026* Nonsense 23/58 - 1
17-29557363-A-G c.3076A>G p.R1026G Missense 23/58 - 1
17-29557366-G-A c.3079G>A p.D1027N Missense 23/58 - 1
17-29557369-G-C c.3082G>C p.D1028H Missense 23/58 - 1
17-29557371-CCT-C c.3088_3089del p.S1030Ifs*8 Frameshift 23/58 - 1
17-29557376-C-T c.3089C>T p.S1030L Missense 23/58 - 1
17-29557376-C-G c.3089C>G p.S1030* Nonsense 23/58 - 3
17-29557376-C-A c.3089C>A p.S1030* Nonsense 23/58 - 1
17-29557381-TG-GC c.3094_3095delinsGC p.C1032A Missense 23/58 - 1
17-29557384-C-T c.3097C>T p.Q1033* Nonsense 23/58 - 1
17-29557385-A-G c.3098A>G p.Q1033R Missense 23/58 - 2
17-29557388-A-G c.3101A>G p.E1034G Missense 23/58 - 1
17-29557391-T-A c.3104T>A p.M1035K Missense 23/58 - 1
17-29557391-T-G c.3104T>G p.M1035R Missense 23/58 - 2
17-29557392-G-T c.3105G>T p.M1035I Missense 23/58 - 1
17-29557393-A-T c.3106A>T p.K1036* Nonsense 23/58 - 1
17-29557397-T-G c.3110T>G p.F1037C Missense 23/58 - 1
17-29557399-A-G c.3112A>G p.R1038G Missense 23/58 - 10
17-29557400-G-C c.3113G>C p.R1038T Missense 23/58 - 3
17-29557400-G-A c.3113G>A p.R1038K Missense 23/58 - 3
17-29557401-G-A c.3113+1G>A - IntronicSNV - 23/57 6
17-29557401-G-C c.3113+1G>C - IntronicSNV - 23/57 3
17-29557401-G-T c.3113+1G>T - IntronicSNV - 23/57 1
17-29557466-A-G c.3113+66A>G - IntronicSNV - 23/57 1
17-29557764-A-C c.3114-96A>C - IntronicSNV - 23/57 1
17-29557764-A-T c.3114-96A>T - IntronicSNV - 23/57 1
17-29557860-G-T c.3114G>T p.R1038S Missense 24/58 - 2
17-29557869-G-T c.3123G>T p.M1041I Missense 24/58 - 1
17-29557870-G-GAT c.3124_3125insAT p.V1042Dfs*2 Frameshift 24/58 - 1
17-29557878-C-A c.3132C>A p.Y1044* Nonsense 24/58 - 1
17-29557881-GAC-G c.3137_3138del p.T1046Rfs*13 Frameshift 24/58 - 1
17-29557889-G-A c.3143G>A p.W1048* Nonsense 24/58 - 1
17-29557890-G-A c.3144G>A p.W1048* Nonsense 24/58 - 1
17-29557891-G-A c.3145G>A p.V1049I Missense 24/58 - 2
17-29557891-G-C c.3145G>C p.V1049L Missense 24/58 - 1
17-29557898-G-A c.3152G>A p.G1051E Missense 24/58 - 1
17-29557900-A-T c.3154A>T p.T1052S Missense 24/58 - 1
17-29557904-C-G c.3158C>G p.S1053* Nonsense 24/58 - 3
17-29557904-C-A c.3158C>A p.S1053* Nonsense 24/58 - 2
17-29557906-A-C c.3160A>C p.N1054H Missense 24/58 - 2
17-29557906-A-G c.3160A>G p.N1054D Missense 24/58 - 1
17-29557907-A-G c.3161A>G p.N1054S Missense 24/58 - 1
17-29557909-C-T c.3163C>T p.Q1055* Nonsense 24/58 - 1
17-29557913-C-CAT c.3168_3169insTA p.A1057* Nonsense 24/58 - 1
17-29557915-G-A c.3169G>A p.A1057T Missense 24/58 - 1
17-29557921-G-A c.3175G>A p.D1059N Missense 24/58 - 1
17-29557924-G-A c.3178G>A p.D1060N Missense 24/58 - 1
17-29557917-AGAT-A c.3179_3181del p.D1060del InFrameDeletion 24/58 - 1
17-29557930-AAAATGTC-A c.3184_3190del p.K1062Lfs*13 Frameshift 24/58 - 1
17-29557928-TA-T c.3186del p.K1062Nfs*15 Frameshift 24/58 - 1
17-29557933-T-TTA c.3187_3188insTA p.C1063Lfs*15 Frameshift 24/58 - 1
17-29557935-T-A c.3189T>A p.C1063* Nonsense 24/58 - 1
17-29557936-C-A c.3190C>A p.L1064I Missense 24/58 - 1
17-29557941-A-G c.3195A>G p.T1065= Synonymous 24/58 - 1
17-29557941-A-T c.3195A>T p.T1065= Synonymous 24/58 - 1
17-29557941-A-C c.3195A>C p.T1065= Synonymous 24/58 - 1
17-29557942-AG-CT c.3196_3197inv p.R1066L Missense 24/58 - 1
17-29557943-G-A c.3197G>A p.R1066K Missense 24/58 - 2
17-29557945-T-A c.3197+2T>A - IntronicSNV - 24/57 1
17-29557945-T-TA c.3197+9dup - IntronicInsertion - 24/57 1
17-29559088-C-T c.3198-3C>T - IntronicSNV - 24/57 1
17-29559091-A-AT c.3198_3199insT p.D1067* SpliceAcceptorInsertion 25/58 - 1
17-29559090-G-GA c.3198dup p.D1067Rfs*22 SpliceAcceptorInsertion 25/58 - 1
17-29559091-A-AC c.3198_3199insC p.D1067Rfs*22 SpliceAcceptorInsertion 25/58 - 1
17-29559091-A-AG c.3199dup p.D1067Gfs*22 SpliceAcceptorInsertion 25/58 - 1
17-29559093-A-T c.3200A>T p.D1067V Missense 25/58 - 4
17-29559097-G-T c.3204G>T p.L1068F Missense 25/58 - 1
17-29559101-C-T c.3208C>T p.Q1070* Nonsense 25/58 - 5
17-29559104-G-C c.3211G>C p.A1071P Missense 25/58 - 1
17-29559105-GC-G c.3212del p.A1071Efs*6 Frameshift 25/58 - 1
17-29559105-C-T c.3212C>T p.A1071V Missense 25/58 - 1
17-29559106-CAA-C c.3213_3214del p.S1072Hfs*16 Frameshift 25/58 - 2
17-29559111-T-A c.3218T>A p.M1073K Missense 25/58 - 1
17-29559122-G-A c.3229G>A p.V1077I Missense 25/58 - 1
17-29559122-GT-G c.3232del p.S1078Hfs*3 Frameshift 25/58 - 3
17-29559126-C-G c.3233C>G p.S1078* Nonsense 25/58 - 1
17-29559126-C-CT c.3233_3234insT p.L1079Tfs*10 Frameshift 25/58 - 1
17-29559132-T-A c.3239T>A p.L1080Q Missense 25/58 - 1
17-29559140-C-T c.3247C>T p.L1083F Missense 25/58 - 1
17-29559140-C-A c.3247C>A p.L1083I Missense 25/58 - 1
17-29559141-T-G c.3248T>G p.L1083R Missense 25/58 - 1
17-29559143-C-T c.3250C>T p.P1084S Missense 25/58 - 4
17-29559149-C-T c.3256C>T p.Q1086* Nonsense 25/58 - 2
17-29559152-C-T c.3259C>T p.P1087S Missense 25/58 - 1
17-29559153-C-T c.3260C>T p.P1087L Missense 25/58 - 1
17-29559154-CTG-C c.3261_3262del p.E1088Rfs*17 Frameshift 25/58 - 1
17-29559155-G-C c.3262G>C p.E1088Q Missense 25/58 - 1
17-29559158-G-T c.3265G>T p.E1089* Nonsense 25/58 - 2
17-29559161-G-T c.3268G>T p.G1090* Nonsense 25/58 - 1
17-29559170-G-A c.3277G>A p.V1093M Missense 25/58 - 1
17-29559173-G-T c.3280G>T p.E1094* Nonsense 25/58 - 2
17-29559171-TG-T c.3280del p.E1094Nfs*2 Frameshift 25/58 - 1
17-29559187-C-CA c.3297dup p.S1100Ifs*6 Frameshift 25/58 - 1
17-29559191-T-A c.3298T>A p.S1100T Missense 25/58 - 1
17-29559192-CACAGTTATTT-GA c.3299_3309delinsGA p.S1100_F1103delins* MultiAAMissense 25/58 - 1
17-29559192-C-A c.3299C>A p.S1100* Nonsense 25/58 - 1
17-29559192-C-G c.3299C>G p.S1100* Nonsense 25/58 - 1
17-29559192-C-T c.3299C>T p.S1100L Missense 25/58 - 1
17-29559191-TCA-T c.3301_3302del p.Q1101Vfs*4 Frameshift 25/58 - 1
17-29559194-C-T c.3301C>T p.Q1101* Nonsense 25/58 - 1
17-29559196-AGTTATTTCTTAAGTAAATT-A c.3303_3314+7del - SpliceDonorDeletion 25/58 25/57 1
17-29559197-TTA-AAC c.3304_3306delinsAAC p.L1102N Missense 25/58 - 1
17-29559197-T-G c.3304T>G p.L1102V Missense 25/58 - 3
17-29559198-T-TA c.3306dup p.F1103Ifs*3 Frameshift 25/58 - 1
17-29559199-A-T c.3306A>T p.L1102F Missense 25/58 - 1
17-29559199-A-C c.3306A>C p.L1102F Missense 25/58 - 1
17-29559204-T-G c.3311T>G p.L1104R Missense 25/58 - 1
17-29559203-C-CT c.3312dup p.K1105* SpliceDonorInsertion 25/58 - 1
17-29559206-A-T c.3313A>T p.K1105* Nonsense 25/58 - 2
17-29559208-G-C c.3314+1G>C - IntronicSNV - 25/57 1
17-29559209-T-C c.3314+2T>C - IntronicSNV - 25/57 1
17-29559209-T-A c.3314+2T>A - IntronicSNV - 25/57 1
17-29559699-C-T c.3315-19C>T - IntronicSNV - 25/57 1
17-29559718-A-AC c.3315_3316insC p.Y1106Lfs*11 SpliceAcceptorInsertion 26/58 - 1
17-29559718-A-AG c.3315_3316insG p.Y1106Vfs*11 SpliceAcceptorInsertion 26/58 - 1
17-29559717-G-GA c.3315dup p.Y1106Ifs*11 SpliceAcceptorInsertion 26/58 - 1
17-29559718-A-AT c.3316dup p.Y1106Lfs*11 SpliceAcceptorInsertion 26/58 - 1
17-29559719-T-C c.3316T>C p.Y1106H Missense 26/58 - 1
17-29559729-T-A c.3326T>A p.L1109* Nonsense 26/58 - 1
17-29559729-T-G c.3326T>G p.L1109* Nonsense 26/58 - 1
17-29559727-AT-A c.3326del p.L1109Yfs*3 Frameshift 26/58 - 1
17-29559726-CATT-C c.3327_3329del p.L1109del InFrameDeletion 26/58 - 1
17-29559730-AT-A c.3330del p.F1110Lfs*2 Frameshift 26/58 - 1
17-29559739-C-A c.3336C>A p.N1112K Missense 26/58 - 1
17-29559740-C-T c.3337C>T p.L1113F Missense 26/58 - 1
17-29559755-AGTGAAGTTGAAGATGAAAGTGC-A c.3354_3375del p.E1119Kfs*16 Frameshift 26/58 - 1
17-29559758-G-T c.3355G>T p.E1119* Nonsense 26/58 - 2
17-29559765-A-G c.3362A>G p.E1121G Missense 26/58 - 3
17-29559770-G-A c.3367G>A p.E1123K Missense 26/58 - 1
17-29559770-G-T c.3367G>T p.E1123* Nonsense 26/58 - 2
17-29559774-G-A c.3371G>A p.S1124N Missense 26/58 - 1
17-29559777-C-T c.3374C>T p.A1125V Missense 26/58 - 1
17-29559783-CA-TG c.3380_3381inv p.T1127M Missense 26/58 - 1
17-29559785-AGG-A c.3382_3383del p.G1128Wfs*66 Frameshift 26/58 - 1
17-29559786-G-C c.3383G>C p.G1128A Missense 26/58 - 1
17-29559794-A-T c.3391A>T p.K1131* Nonsense 26/58 - 1
17-29559797-C-T c.3394C>T p.R1132C Missense 26/58 - 3
17-29559797-C-G c.3394C>G p.R1132G Missense 26/58 - 1
17-29559798-G-A c.3395G>A p.R1132H Missense 26/58 - 3
17-29559801-G-A c.3398G>A p.G1133D Missense 26/58 - 1
17-29559801-G-GC c.3399dup p.M1134Hfs*61 Frameshift 26/58 - 1
17-29559809-C-T c.3406C>T p.R1136W Missense 26/58 - 1
17-29559822-C-A c.3419C>A p.S1140* Nonsense 26/58 - 1
17-29559822-C-G c.3419C>G p.S1140* Nonsense 26/58 - 1
17-29559825-T-G c.3422T>G p.L1141R Missense 26/58 - 1
17-29559826-G-T c.3423G>T p.L1141= Synonymous 26/58 - 1
17-29559826-G-A c.3423G>A p.L1141= Synonymous 26/58 - 1
17-29559826-G-C c.3423G>C p.L1141= Synonymous 26/58 - 1
17-29559824-C-T c.3421C>T p.L1141= Synonymous 26/58 - 1
17-29559826-G-GT c.3423_3424insT p.R1142* Nonsense 26/58 - 1
17-29559825-TGA-T c.3424_3425del p.R1142Afs*52 Frameshift 26/58 - 1
17-29559821-TCACTGAGG-T c.3424_3431del p.R1142Yfs*50 Frameshift 26/58 - 1
17-29559828-G-T c.3425G>T p.R1142M Missense 26/58 - 1
17-29559834-G-A c.3431G>A p.C1144Y Missense 26/58 - 1
17-29559836-TACGGTCCTTGCAATGTCAAACTTACTCAATGCCAACGTAGACAGTGGTCTCATGCACTC-T c.3433_3491del p.T1145Hfs*30 InFrameDeletion 26/58 - 1
17-29559836-AC-GT c.3433_3434inv p.T1145V Missense 26/58 - 1
17-29559837-C-A c.3434C>A p.T1145K Missense 26/58 - 1
17-29559837-CG-C c.3436del p.V1146Sfs*12 Frameshift 26/58 - 1
17-29559839-G-A c.3436G>A p.V1146I Missense 26/58 - 2
17-29559842-C-G c.3439C>G p.L1147V Missense 26/58 - 1
17-29559848-A-G c.3445A>G p.M1149V Missense 26/58 - 6
17-29559848-A-T c.3445A>T p.M1149L Missense 26/58 - 1
17-29559848-A-C c.3445A>C p.M1149L Missense 26/58 - 1
17-29559849-T-C c.3446T>C p.M1149T Missense 26/58 - 1
17-29559850-G-T c.3447G>T p.M1149I Missense 26/58 - 2
17-29559850-G-C c.3447G>C p.M1149I Missense 26/58 - 1
17-29559850-G-A c.3447G>A p.M1149I Missense 26/58 - 2
17-29559852-C-G c.3449C>G p.S1150* Nonsense 26/58 - 7
17-29559852-C-A c.3449C>A p.S1150* Nonsense 26/58 - 2
17-29559852-C-T c.3449C>T p.S1150L Missense 26/58 - 2
17-29559852-C-CA c.3452dup p.N1151Kfs*44 Frameshift 26/58 - 1
17-29559858-T-TA c.3456dup p.L1153Tfs*42 Frameshift 26/58 - 2
17-29559858-TACTC-T c.3457_3460del p.L1153Mfs*4 Frameshift 26/58 - 11
17-29559870-A-G c.3467A>G p.N1156S Missense 26/58 - 3
17-29559871-C-T c.3468C>T p.N1156= Synonymous 26/58 - 2
17-29559872-G-A c.3469G>A p.V1157I Missense 26/58 - 1
17-29559882-G-T c.3479G>T p.G1160V Missense 26/58 - 1
17-29559885-T-G c.3482T>G p.L1161R Missense 26/58 - 1
17-29559887-A-G c.3484A>G p.M1162V Missense 26/58 - 1
17-29559889-GCA-G c.3488_3489del p.H1163Lfs*31 Frameshift 26/58 - 1
17-29559892-ACTCCATAGGTGAGATCAAATGAAAGTTTCATATAGAAATACAAAACCTAGAGAACTGGC-A c.3489_3496+51del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 26/58 26/57 1
17-29559893-TC-T c.3492del p.I1165* Frameshift 26/58 - 1
17-29559897-T-C c.3494T>C p.I1165T Missense 26/58 - 1
17-29559897-T-TA c.3495dup p.G1166Rfs*29 SpliceDonorInsertion 26/58 - 1
17-29559898-A-AC c.3495_3496insC p.G1166Rfs*29 SpliceDonorInsertion 26/58 - 1
17-29559898-A-AT c.3495_3496insT p.G1166Wfs*29 SpliceDonorInsertion 26/58 - 1
17-29559899-G-A c.3496G>A p.G1166S Missense 26/58 - 3
17-29559900-G-A c.3496+1G>A - IntronicSNV - 26/57 1
17-29559932-C-A c.3496+33C>A - IntronicSNV - 26/57 2
17-29559985-A-C c.3497-35A>C - IntronicSNV - 26/57 1
17-29559985-A-G c.3497-35A>G - IntronicSNV - 26/57 1
17-29560020-G-A c.3497G>A p.G1166D Missense 27/58 - 1
17-29560024-A-T c.3501A>T p.L1167F Missense 27/58 - 1
17-29560024-A-C c.3501A>C p.L1167F Missense 27/58 - 1
17-29560025-G-T c.3502G>T p.G1168C Missense 27/58 - 1
17-29560030-C-T c.3507C>T p.Y1169= Synonymous 27/58 - 1
17-29560029-AC-A c.3508del p.H1170Tfs*14 Frameshift 27/58 - 1
17-29560032-A-T c.3509A>T p.H1170L Missense 27/58 - 1
17-29560035-A-G c.3512A>G p.K1171R Missense 27/58 - 1
17-29560040-C-T c.3517C>T p.L1173F Missense 27/58 - 1
17-29560043-C-T c.3520C>T p.Q1174* Nonsense 27/58 - 4
17-29560048-CAA-C c.3525_3526del p.R1176Sfs*18 Frameshift 27/58 - 4
17-29560050-G-T c.3527G>T p.R1176I Missense 27/58 - 1
17-29560063-G-C c.3540G>C p.M1180I Missense 27/58 - 3
17-29560063-G-A c.3540G>A p.M1180I Missense 27/58 - 3
17-29560063-G-T c.3540G>T p.M1180I Missense 27/58 - 3
17-29560065-A-G c.3542A>G p.E1181G Missense 27/58 - 1
17-29560067-G-T c.3544G>T p.V1182F Missense 27/58 - 1
17-29560068-T-G c.3545T>G p.V1182G Missense 27/58 - 3
17-29560068-T-A c.3545T>A p.V1182D Missense 27/58 - 1
17-29560070-C-G c.3547C>G p.L1183V Missense 27/58 - 1
17-29560079-A-C c.3556A>C p.I1186L Missense 27/58 - 1
17-29560080-T-A c.3557T>A p.I1186N Missense 27/58 - 1
17-29560085-C-T c.3562C>T p.Q1188* Nonsense 27/58 - 5
17-29560087-AC-TGA c.3564_3565delinsTGA p.Q1188Hfs*7 Frameshift 27/58 - 1
17-29560087-A-T c.3564A>T p.Q1188H Missense 27/58 - 1
17-29560086-AAC-A c.3565_3566del p.Q1189Rfs*5 Frameshift 27/58 - 1
17-29560088-C-T c.3565C>T p.Q1189* Nonsense 27/58 - 1
17-29560090-A-T c.3567A>T p.Q1189H Missense 27/58 - 1
17-29560090-A-C c.3567A>C p.Q1189H Missense 27/58 - 1
17-29560091-G-T c.3568G>T p.G1190C Missense 27/58 - 1
17-29560090-AG-A c.3569del p.G1190Afs*25 Frameshift 27/58 - 3
17-29560092-G-T c.3569G>T p.G1190V Missense 27/58 - 1
17-29560095-C-G c.3572C>G p.T1191R Missense 27/58 - 1
17-29560097-G-T c.3574G>T p.E1192* Nonsense 27/58 - 5
17-29560097-G-A c.3574G>A p.E1192K Missense 27/58 - 1
17-29560101-T-G c.3578T>G p.F1193C Missense 27/58 - 1
17-29560102-T-G c.3579T>G p.F1193L Missense 27/58 - 1
17-29560109-C-T c.3586C>T p.L1196F Missense 27/58 - 1
17-29560109-CTT-ATG c.3586_3588delinsATG p.L1196M Missense 27/58 - 2
17-29560110-T-G c.3587T>G p.L1196R Missense 27/58 - 1
17-29560113-C-T c.3590C>T p.A1197V Missense 27/58 - 1
17-29560113-C-A c.3590C>A p.A1197E Missense 27/58 - 1
17-29560115-G-T c.3592G>T p.E1198* Nonsense 27/58 - 1
17-29560118-A-AGG c.3595_3596insGG p.T1199Rfs*17 Frameshift 27/58 - 1
17-29560127-G-T c.3604G>T p.A1202S Missense 27/58 - 2
17-29560133-C-T c.3610C>T p.R1204W Missense 27/58 - 8
17-29560133-C-G c.3610C>G p.R1204G Missense 27/58 - 5
17-29560134-G-T c.3611G>T p.R1204L Missense 27/58 - 1
17-29560138-TTG-T c.3615_3616del p.F1205Lfs*12 Frameshift 27/58 - 1
17-29560139-G-T c.3616G>T p.E1206* Nonsense 27/58 - 1
17-29560143-G-C c.3620G>C p.R1207T Missense 27/58 - 1
17-29560146-T-G c.3623T>G p.L1208W Missense 27/58 - 2
17-29560144-AT-A c.3623del p.L1208Wfs*7 Frameshift 27/58 - 1
17-29560147-G-T c.3624G>T p.L1208F Missense 27/58 - 2
17-29560147-G-C c.3624G>C p.L1208F Missense 27/58 - 1
17-29560151-GGAACTGGTCAC-G c.3628_3638del p.E1210Nfs*4 Frameshift 27/58 - 1
17-29560155-T-G c.3632T>G p.L1211R Missense 27/58 - 2
17-29560162-CAAT-C c.3639_3641del p.M1215del InFrameDeletion 27/58 - 1
17-29560162-CAA-C c.3639_3640del p.M1214Dfs*3 Frameshift 27/58 - 1
17-29560162-AATG-A c.3643_3645del p.M1215del InFrameDeletion 27/58 - 1
17-29560167-T-A c.3644T>A p.M1215K Missense 27/58 - 2
17-29560167-T-G c.3644T>G p.M1215R Missense 27/58 - 1
17-29560169-G-C c.3646G>C p.G1216R Missense 27/58 - 1
17-29560169-G-T c.3646G>T p.G1216C Missense 27/58 - 1
17-29560173-A-G c.3650A>G p.D1217G Missense 27/58 - 2
17-29560173-A-C c.3650A>C p.D1217A Missense 27/58 - 1
17-29560175-C-T c.3652C>T p.Q1218* Nonsense 27/58 - 3
17-29560178-G-A c.3655G>A p.G1219R Missense 27/58 - 2
17-29560178-G-C c.3655G>C p.G1219R Missense 27/58 - 2
17-29560178-G-T c.3655G>T p.G1219* Nonsense 27/58 - 1
17-29560176-AAGG-A c.3656_3658del p.G1219del InFrameDeletion 27/58 - 1
17-29560181-G-T c.3658G>T p.E1220* Nonsense 27/58 - 1
17-29560185-T-G c.3662T>G p.L1221R Missense 27/58 - 1
17-29560187-C-T c.3664C>T p.P1222S Missense 27/58 - 1
17-29560188-C-A c.3665C>A p.P1222H Missense 27/58 - 1
17-29560188-C-T c.3665C>T p.P1222L Missense 27/58 - 1
17-29560193-G-C c.3670G>C p.A1224P Missense 27/58 - 1
17-29560194-C-T c.3671C>T p.A1224V Missense 27/58 - 2
17-29560197-T-G c.3674T>G p.M1225R Missense 27/58 - 1
17-29560199-G-A c.3676G>A p.A1226T Missense 27/58 - 1
17-29560205-G-A c.3682G>A p.A1228T Missense 27/58 - 1
17-29560205-G-GAGAT c.3682_3683insAGAT p.A1228Efs*12 Frameshift 27/58 - 1
17-29560205-GC-G c.3684del p.N1229Mfs*11 Frameshift 27/58 - 4
17-29560209-A-G c.3686A>G p.N1229S Missense 27/58 - 3
17-29560224-C-T c.3701C>T p.S1234F Missense 27/58 - 1
17-29560226-C-T c.3703C>T p.Q1235* Nonsense 27/58 - 6
17-29560229-T-C c.3706T>C p.W1236R Missense 27/58 - 1
17-29560230-G-A c.3707G>A p.W1236* Nonsense 27/58 - 2
17-29560231-G-A c.3708G>A p.W1236* Nonsense 27/58 - 3
17-29560232-G-C c.3708+1G>C - IntronicSNV - 27/57 1
17-29560232-G-A c.3708+1G>A - IntronicSNV - 27/57 1
17-29560241-T-C c.3708+10T>C - IntronicSNV - 27/57 1
17-29560800-A-G c.3708+569A>G - IntronicSNV - 27/57 1
17-29562630-GA-G c.3710del p.D1237Vfs*3 Frameshift 28/58 - 1
17-29562632-G-T c.3712G>T p.E1238* Nonsense 28/58 - 1
17-29562635-AC-A c.3715del p.L1239* Frameshift 28/58 - 1
17-29562637-TAGCTCGAGTTCTGGTTACTC-T c.3717_3736del p.A1240Vfs*2 Frameshift 28/58 - 1
17-29562639-C-G c.3719C>G p.A1240G Missense 28/58 - 1
17-29562641-TC-T c.3721del p.R1241Efs*25 Frameshift 28/58 - 1
17-29562641-C-T c.3721C>T p.R1241* Nonsense 28/58 - 24
17-29562640-T-TC c.3721dup p.R1241Pfs*8 Frameshift 28/58 - 1
17-29562645-T-G c.3725T>G p.V1242G Missense 28/58 - 1
17-29562645-TTC-T c.3727_3728del p.L1243Gfs*5 Frameshift 28/58 - 1
17-29562647-C-A c.3727C>A p.L1243M Missense 28/58 - 1
17-29562647-C-G c.3727C>G p.L1243V Missense 28/58 - 1
17-29562648-T-C c.3728T>C p.L1243P Missense 28/58 - 1
17-29562650-GT-G c.3732del p.T1245Lfs*21 Frameshift 28/58 - 2
17-29562654-C-G c.3734C>G p.T1245S Missense 28/58 - 1
17-29562656-CTGTT-C c.3739_3742del p.F1247Ifs*18 Frameshift 28/58 - 8
17-29562659-T-C c.3739T>C p.F1247L Missense 28/58 - 1
17-29562661-T-A c.3741T>A p.F1247L Missense 28/58 - 1
17-29562661-T-G c.3741T>G p.F1247L Missense 28/58 - 1
17-29562660-T-G c.3740T>G p.F1247C Missense 28/58 - 1
17-29562665-TTCTCGGCATTTACTCTACCA-T c.3745_3764del p.S1249Tfs*8 Frameshift 28/58 - 1
17-29562666-C-T c.3746C>T p.S1249F Missense 28/58 - 2
17-29562668-C-T c.3748C>T p.R1250W Missense 28/58 - 3
17-29562668-CG-GC c.3748_3749delinsGC p.R1250A Missense 28/58 - 1
17-29562668-C-A c.3748C>A p.R1250= Synonymous 28/58 - 1
17-29562669-G-C c.3749G>C p.R1250P Missense 28/58 - 1
17-29562669-G-A c.3749G>A p.R1250Q Missense 28/58 - 3
17-29562669-G-T c.3749G>T p.R1250L Missense 28/58 - 1
17-29562675-TACTCTACC-T c.3757_3764del p.L1253Tfs*8 Frameshift 28/58 - 1
17-29562678-CTCTACCAA-C c.3758_3765del p.L1253Pfs*8 Frameshift 28/58 - 1
17-29562683-C-T c.3763C>T p.Q1255* Nonsense 28/58 - 2
17-29562687-T-G c.3767T>G p.L1256R Missense 28/58 - 1
17-29562692-T-A c.3772T>A p.W1258R Missense 28/58 - 1
17-29562692-T-C c.3772T>C p.W1258R Missense 28/58 - 1
17-29562693-G-A c.3773G>A p.W1258* Nonsense 28/58 - 2
17-29562694-G-A c.3774G>A p.W1258* Nonsense 28/58 - 4
17-29562699-T-C c.3779T>C p.M1260T Missense 28/58 - 1
17-29562701-T-C c.3781T>C p.F1261L Missense 28/58 - 1
17-29562705-C-G c.3785C>G p.S1262C Missense 28/58 - 3
17-29562710-G-T c.3790G>T p.E1264* Nonsense 28/58 - 1
17-29562714-T-A c.3794T>A p.V1265E Missense 28/58 - 1
17-29562716-G-C c.3796G>C p.E1266Q Missense 28/58 - 1
17-29562726-A-AC c.3807dup p.S1270Lfs*14 Frameshift 28/58 - 1
17-29562736-G-T c.3816G>T p.Q1272H Missense 28/58 - 1
17-29562736-G-C c.3816G>C p.Q1272H Missense 28/58 - 1
17-29562737-ACT-A c.3822_3823del p.F1275Pfs*8 Frameshift 28/58 - 3
17-29562746-C-G c.3826C>G p.R1276G Missense 28/58 - 4
17-29562746-C-T c.3826C>T p.R1276* Nonsense 28/58 - 27
17-29562746-CG-GC c.3826_3827delinsGC p.R1276A Missense 28/58 - 4
17-29562746-CCGA-C c.3826_3828del p.R1276del InFrameDeletion 28/58 - 1
17-29562746-CGA-TACT c.3826_3828delinsTACT p.R1276Yfs*8 Frameshift 28/58 - 1
17-29562746-CG-GA c.3826_3827delinsGA p.R1276E Missense 28/58 - 1
17-29562747-G-A c.3827G>A p.R1276Q Missense 28/58 - 26
17-29562747-G-C c.3827G>C p.R1276P Missense 28/58 - 25
17-29562747-G-T c.3827G>T p.R1276L Missense 28/58 - 1
17-29562751-C-T c.3831C>T p.G1277= Synonymous 28/58 - 1
17-29562751-C-G c.3831C>G p.G1277= Synonymous 28/58 - 1
17-29562751-C-A c.3831C>A p.G1277= Synonymous 28/58 - 1
17-29562756-G-T c.3836G>T p.S1279I Missense 28/58 - 1
17-29562762-C-T c.3842C>T p.A1281V Missense 28/58 - 2
17-29562764-CA-C c.3844del p.S1282Vfs*3 Frameshift 28/58 - 1
17-29562765-G-T c.3845G>T p.S1282I Missense 28/58 - 1
17-29562767-AA-GC c.3847_3848delinsGC p.K1283A Missense 28/58 - 1
17-29562765-GTAAAATAATGACA-G c.3847_3859del p.K1283Sfs*22 Frameshift 28/58 - 1
17-29562768-A-G c.3848A>G p.K1283R Missense 28/58 - 1
17-29562766-TA-T c.3850del p.I1284* Frameshift 28/58 - 1
17-29562778-AT-A c.3860del p.F1287Sfs*22 Frameshift 28/58 - 1
17-29562787-C-G c.3867C>G p.F1289L Missense 28/58 - 1
17-29562787-C-T c.3867C>T p.F1289= Synonymous 28/58 - 2
17-29562788-A-T c.3868A>T p.K1290* Nonsense 28/58 - 1
17-29562788-A-AAGT c.3870_3870+1insTAG p.K1290_V1291ins* SpliceDonorInsertion - - 1
17-29562790-G-A c.3870G>A p.K1290= Synonymous 28/58 - 1
17-29562792-T-A c.3870+2T>A - IntronicSNV - 28/57 1
17-29562814-GT-G c.3870+24del - IntronicDeletion - 28/57 1
17-29562895-T-C c.3871-41T>C - IntronicSNV - 28/57 1
17-29562936-GTATATGGTGCTACCTATCTACAAAAACTCCTGGATCCTTTATTACGAATTGTGATCACA-G c.3873_3931del p.Y1292Lfs*2 Unclassified 29/58 - 1
17-29562940-A-G c.3875A>G p.Y1292C Missense 29/58 - 4
17-29562936-GTA-G c.3875_3876del p.Y1292Wfs*21 Frameshift 29/58 - 1
17-29562942-G-T c.3877G>T p.G1293C Missense 29/58 - 1
17-29562948-A-G c.3883A>G p.T1295A Missense 29/58 - 1
17-29562953-T-G c.3888T>G p.Y1296* Nonsense 29/58 - 3
17-29562953-T-A c.3888T>A p.Y1296* Nonsense 29/58 - 2
17-29562961-AAACTCCTGGATC-A c.3896_3907del p.K1299_P1303delinsT MultiAAMissense 29/58 - 1
17-29562967-T-G c.3902T>G p.L1301R Missense 29/58 - 2
17-29562969-GGATCCTT-G c.3904_3910del p.D1302Yfs*5 Frameshift 29/58 - 1
17-29562970-A-G c.3905A>G p.D1302G Missense 29/58 - 1
17-29562968-GGATCCTTTATTAC-G c.3906_3918del p.D1302Efs*3 Frameshift 29/58 - 1
17-29562973-C-A c.3908C>A p.P1303H Missense 29/58 - 1
17-29562981-C-T c.3916C>T p.R1306* Nonsense 29/58 - 18
17-29562981-C-A c.3916C>A p.R1306= Synonymous 29/58 - 1
17-29562982-G-A c.3917G>A p.R1306Q Missense 29/58 - 5
17-29562985-TT-AG c.3920_3921delinsAG p.I1307K Missense 29/58 - 1
17-29562987-G-C c.3922G>C p.V1308L Missense 29/58 - 1
17-29562987-G-T c.3922G>T p.V1308L Missense 29/58 - 1
17-29562988-T-C c.3923T>C p.V1308A Missense 29/58 - 1
17-29562990-GAT-G c.3925_3926del p.I1309Hfs*4 Frameshift 29/58 - 1
17-29562993-ACA-TGT c.3928_3930inv p.T1310C Missense 29/58 - 1
17-29563005-T-C c.3940T>C p.W1314R Missense 29/58 - 1
17-29563006-G-A c.3941G>A p.W1314* Nonsense 29/58 - 5
17-29563007-G-A c.3942G>A p.W1314* Nonsense 29/58 - 5
17-29563007-GC-AA c.3942_3943delinsAA p.W1314_Q1315delins* MultiAAMissense 29/58 - 1
17-29563008-C-T c.3943C>T p.Q1315* Nonsense 29/58 - 2
17-29563016-T-G c.3951T>G p.V1317= Synonymous 29/58 - 1
17-29563020-T-C c.3955T>C p.F1319L Missense 29/58 - 1
17-29563023-G-A c.3958G>A p.E1320K Missense 29/58 - 1
17-29563029-G-C c.3964G>C p.D1322H Missense 29/58 - 1
17-29563030-GA-G c.3965del p.D1322Vfs*5 Frameshift 29/58 - 1
17-29563033-C-T c.3968C>T p.P1323L Missense 29/58 - 1
17-29563036-C-A c.3971C>A p.T1324N Missense 29/58 - 3
17-29563038-A-G c.3973A>G p.R1325G Missense 29/58 - 1
17-29563039-G-C c.3974G>C p.R1325T Missense 29/58 - 2
17-29563039-G-A c.3974G>A p.R1325K Missense 29/58 - 1
17-29563040-G-A c.3974+1G>A - IntronicSNV - 29/57 2
17-29563040-G-T c.3974+1G>T - IntronicSNV - 29/57 1
17-29563041-T-G c.3974+2T>G - IntronicSNV - 29/57 1
17-29563077-T-G c.3974+38T>G - IntronicSNV - 29/57 1
17-29563085-T-TG c.3974+46_3974+47insG - IntronicInsertion - 29/57 1
17-29563299-T-G c.3974+260T>G - IntronicSNV - 29/57 1
17-29564603-G-A c.3974+1564G>A - IntronicSNV - 29/57 2
17-29564603-G-T c.3974+1564G>T - IntronicSNV - 29/57 2
17-29572925-C-T c.3975-3077C>T - IntronicSNV - 29/57 1
17-29575803-A-G c.3975-199A>G - IntronicSNV - 29/57 1
17-29575921-T-C c.3975-81T>C - IntronicSNV - 29/57 1
17-29575922-A-G c.3975-80A>G - IntronicSNV - 29/57 1
17-29575922-A-T c.3975-80A>T - IntronicSNV - 29/57 1
17-29576002-G-GA c.3975_3976insA p.L1326Ifs*8 SpliceAcceptorInsertion 30/58 - 2
17-29576000-A-AG c.3975dup p.L1326Vfs*8 SpliceAcceptorInsertion 30/58 - 2
17-29576000-AG-A c.3975del p.R1325Sfs*2 Frameshift 30/58 - 1
17-29576002-GT-G c.3977del p.L1326* Frameshift 30/58 - 1
17-29576002-G-GT c.3977dup p.L1326Ffs*8 Frameshift 30/58 - 2
17-29576004-T-G c.3977T>G p.L1326* Nonsense 30/58 - 2
17-29576006-G-T c.3979G>T p.E1327* Nonsense 30/58 - 1
17-29576008-ACCAT-A c.3983_3986del p.P1328Qfs*14 Frameshift 30/58 - 1
17-29576013-C-G c.3986C>G p.S1329* Nonsense 30/58 - 2
17-29576013-C-A c.3986C>A p.S1329* Nonsense 30/58 - 1
17-29576015-G-C c.3988G>C p.E1330Q Missense 30/58 - 1
17-29576013-CAGAG-C c.3989_3992del p.E1330Afs*12 Frameshift 30/58 - 2
17-29576027-G-T c.4000G>T p.E1334* Nonsense 30/58 - 2
17-29576033-C-T c.4006C>T p.Q1336* Nonsense 30/58 - 6
17-29576036-C-T c.4009C>T p.R1337W Missense 30/58 - 3
17-29576039-A-T c.4012A>T p.N1338Y Missense 30/58 - 1
17-29576042-C-T c.4015C>T p.L1339F Missense 30/58 - 1
17-29576043-T-G c.4016T>G p.L1339R Missense 30/58 - 1
17-29576048-C-T c.4021C>T p.Q1341* Nonsense 30/58 - 1
17-29576050-G-A c.4023G>A p.Q1341= Synonymous 30/58 - 1
17-29576053-G-A c.4026G>A p.M1342I Missense 30/58 - 1
17-29576055-CT-TG c.4028_4029delinsTG p.T1343M Missense 30/58 - 1
17-29576055-C-T c.4028C>T p.T1343I Missense 30/58 - 1
17-29576057-G-T c.4030G>T p.E1344* Nonsense 30/58 - 1
17-29576060-A-T c.4033A>T p.K1345* Nonsense 30/58 - 1
17-29576060-A-G c.4033A>G p.K1345E Missense 30/58 - 1
17-29576063-T-G c.4036T>G p.F1346V Missense 30/58 - 2
17-29576069-C-G c.4042C>G p.H1348D Missense 30/58 - 1
17-29576071-T-C c.4044T>C p.H1348= Synonymous 30/58 - 1
17-29576080-C-G c.4053C>G p.I1351M Missense 30/58 - 1
17-29576081-A-G c.4054A>G p.S1352G Missense 30/58 - 1
17-29576081-CA-C c.4054del p.S1352Vfs*26 Frameshift 30/58 - 1
17-29576085-C-T c.4058C>T p.S1353F Missense 30/58 - 1
17-29576088-C-T c.4061C>T p.S1354F Missense 30/58 - 1
17-29576090-T-A c.4063T>A p.S1355T Missense 30/58 - 1
17-29576091-C-G c.4064C>G p.S1355* Nonsense 30/58 - 4
17-29576091-C-A c.4064C>A p.S1355* Nonsense 30/58 - 1
17-29576093-G-A c.4066G>A p.E1356K Missense 30/58 - 4
17-29576091-CAG-C c.4066_4067del p.E1356Ifs*23 Frameshift 30/58 - 1
17-29576094-A-G c.4067A>G p.E1356G Missense 30/58 - 1
17-29576094-A-T c.4067A>T p.E1356V Missense 30/58 - 1
17-29576097-T-TC c.4076dup p.Q1360Sfs*20 Frameshift 30/58 - 1
17-29576108-C-A c.4081C>A p.L1361I Missense 30/58 - 1
17-29576109-T-G c.4082T>G p.L1361R Missense 30/58 - 2
17-29576108-CT-C c.4083del p.R1362Efs*16 Frameshift 30/58 - 1
17-29576111-C-T c.4084C>T p.R1362* Nonsense 30/58 - 29
17-29576111-CGA-AAC c.4084_4086delinsAAC p.R1362N Missense 30/58 - 1
17-29576112-G-A c.4085G>A p.R1362Q Missense 30/58 - 3
17-29576112-CGAAGTGTGTGCCACTGTTTATACCAGGTATGCTTACAGTTAGAGATTACCATTATTAAT-C c.4085_4110+33del - SpliceDonorDeletion 30/58 30/57 1
17-29576111-CGAAGTGT-C c.4086_4092del p.S1363Afs*13 Frameshift 30/58 - 1
17-29576115-AGTGTGTG-A c.4088_4094del p.S1363Tfs*13 Frameshift 30/58 - 1
17-29576120-T-C c.4093T>C p.C1365R Missense 30/58 - 1
17-29576122-C-A c.4095C>A p.C1365* Nonsense 30/58 - 1
17-29576124-A-T c.4097A>T p.H1366L Missense 30/58 - 1
17-29576130-T-G c.4103T>G p.L1368* Nonsense 30/58 - 2
17-29576133-A-G c.4106A>G p.Y1369C Missense 30/58 - 1
17-29576134-C-A c.4107C>A p.Y1369* Nonsense 30/58 - 1
17-29576135-CA-TC c.4108_4109delinsTC p.Q1370S Missense 30/58 - 1
17-29576135-CCAG-C c.4108_4110del p.Q1370del InFrameDeletion 30/58 - 2
17-29576135-C-T c.4108C>T p.Q1370* Nonsense 30/58 - 1
17-29576138-G-A c.4110+1G>A - IntronicSNV - 30/57 1
17-29576138-G-C c.4110+1G>C - IntronicSNV - 30/57 2
17-29576230-G-C c.4110+93G>C - IntronicSNV - 30/57 1
17-29577082-A-G c.4110+945A>G - IntronicSNV - 30/57 2
17-29577934-TA-T c.4110+1802del - IntronicDeletion - 30/57 1
17-29578251-C-T c.4111-1705C>T - IntronicSNV - 30/57 1
17-29579938-C-T c.4111-18C>T - IntronicSNV - 30/57 1
17-29579940-C-T c.4111-16C>T - IntronicSNV - 30/57 1
17-29579950-C-T c.4111-6C>T - IntronicSNV - 30/57 1
17-29579989-G-A c.4144G>A p.V1382I Missense 31/58 - 1
17-29579990-T-A c.4145T>A p.V1382E Missense 31/58 - 1
17-29579995-G-A c.4150G>A p.E1384K Missense 31/58 - 1
17-29579995-G-C c.4150G>C p.E1384Q Missense 31/58 - 1
17-29579995-G-T c.4150G>T p.E1384* Nonsense 31/58 - 1
17-29579999-A-G c.4154A>G p.K1385R Missense 31/58 - 1
17-29580004-G-A c.4159G>A p.E1387K Missense 31/58 - 2
17-29580002-AG-A c.4159del p.E1387Kfs*19 Frameshift 31/58 - 1
17-29580007-A-G c.4162A>G p.N1388D Missense 31/58 - 1
17-29580009-C-CA c.4170dup p.S1391Ifs*4 Frameshift 31/58 - 1
17-29580017-C-A c.4172C>A p.S1391* Nonsense 31/58 - 1
17-29580017-C-G c.4172C>G p.S1391* Nonsense 31/58 - 2
17-29580018-A-C c.4173A>C p.S1391= Synonymous 31/58 - 1
17-29580043-G-A c.4173+25G>A - IntronicSNV - 31/57 1
17-29580296-A-G c.4173+278A>G - IntronicSNV - 31/57 2
17-29585362-G-C c.4174G>C p.V1392L Missense 32/58 - 1
17-29585362-G-GT c.4175dup p.V1393Gfs*2 SpliceAcceptorInsertion 32/58 - 1
17-29585363-TGGTTAGCCAGCGTTTCCCTCAGAACAGCATCGGTGCAGTAGGAAGTGCCATGTTCCTCA-T c.4177_4235del p.V1393Ifs*11 InFrameDeletion 32/58 - 1
17-29585366-T-C c.4178T>C p.V1393A Missense 32/58 - 3
17-29585366-T-A c.4178T>A p.V1393D Missense 32/58 - 1
17-29585368-A-C c.4180A>C p.S1394R Missense 32/58 - 1
17-29585368-TAGC-T c.4180_4182del p.S1394del InFrameDeletion 32/58 - 1
17-29585369-G-A c.4181G>A p.S1394N Missense 32/58 - 2
17-29585371-C-T c.4183C>T p.Q1395* Nonsense 32/58 - 1
17-29585371-C-A c.4183C>A p.Q1395K Missense 32/58 - 1
17-29585373-AG-A c.4185del p.Q1395Hfs*11 Frameshift 32/58 - 2
17-29585375-G-A c.4187G>A p.R1396H Missense 32/58 - 4
17-29585381-C-T c.4193C>T p.P1398L Missense 32/58 - 1
17-29585381-C-A c.4193C>A p.P1398H Missense 32/58 - 1
17-29585380-CCTCAGAACAG-C c.4194_4203del p.Q1399Sfs*4 Frameshift 32/58 - 1
17-29585383-C-T c.4195C>T p.Q1399* Nonsense 32/58 - 4
17-29585391-C-CT c.4203_4204insT p.I1402Yfs*22 Frameshift 32/58 - 1
17-29585395-G-A c.4207G>A p.G1403S Missense 32/58 - 3
17-29585395-G-T c.4207G>T p.G1403C Missense 32/58 - 2
17-29585407-A-G c.4219A>G p.S1407G Missense 32/58 - 1
17-29585409-T-G c.4221T>G p.S1407R Missense 32/58 - 1
17-29585409-T-A c.4221T>A p.S1407R Missense 32/58 - 1
17-29585407-A-C c.4219A>C p.S1407R Missense 32/58 - 1
17-29585413-A-G c.4225A>G p.M1409V Missense 32/58 - 1
17-29585414-T-C c.4226T>C p.M1409T Missense 32/58 - 1
17-29585415-TGTTCCTCAGATTTATCAATCCTGCCATTGTCTCACCGTATGAAGCAGGGATTTTAGATA-T c.4227_4285del p.M1409Ifs*6 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 32/58 - 1
17-29585418-TCC-T c.4230_4231del p.L1411Qfs*12 Frameshift 32/58 - 1
17-29585419-C-G c.4231C>G p.L1411V Missense 32/58 - 1
17-29585420-T-C c.4232T>C p.L1411P Missense 32/58 - 1
17-29585421-C-T c.4233C>T p.L1411= Synonymous 32/58 - 1
17-29585421-C-G c.4233C>G p.L1411= Synonymous 32/58 - 1
17-29585421-C-A c.4233C>A p.L1411= Synonymous 32/58 - 1
17-29585423-G-T c.4235G>T p.R1412I Missense 32/58 - 1
17-29585427-TATCA-T c.4243_4246del p.N1415Lfs*12 Frameshift 32/58 - 1
17-29585431-CAAT-C c.4243_4245del p.N1415del InFrameDeletion 32/58 - 1
17-29585435-C-T c.4247C>T p.P1416L Missense 32/58 - 1
17-29585438-C-T c.4250C>T p.A1417V Missense 32/58 - 2
17-29585447-TC-T c.4259del p.S1420Yfs*8 Frameshift 32/58 - 1
17-29585450-C-G c.4262C>G p.P1421R Missense 32/58 - 1
17-29585450-C-A c.4262C>A p.P1421Q Missense 32/58 - 1
17-29585450-C-T c.4262C>T p.P1421L Missense 32/58 - 3
17-29585455-G-T c.4267G>T p.E1423* Nonsense 32/58 - 1
17-29585456-A-G c.4268A>G p.E1423G Missense 32/58 - 2
17-29585456-A-T c.4268A>T p.E1423V Missense 32/58 - 2
17-29585456-A-C c.4268A>C p.E1423A Missense 32/58 - 1
17-29585457-A-G c.4269A>G p.E1423= Synonymous 32/58 - 1
17-29585461-G-C c.4273G>C p.G1425R Missense 32/58 - 1
17-29585470-AGAT-A c.4282_4284del p.D1428del InFrameDeletion 32/58 - 1
17-29585486-C-G c.4298C>G p.P1433R Missense 32/58 - 1
17-29585494-G-T c.4306G>T p.E1436* Nonsense 32/58 - 1
17-29585494-G-A c.4306G>A p.E1436K Missense 32/58 - 1
17-29585495-A-G c.4307A>G p.E1436G Missense 32/58 - 2
17-29585495-A-C c.4307A>C p.E1436A Missense 32/58 - 1
17-29585500-G-A c.4312G>A p.G1438S Missense 32/58 - 1
17-29585501-G-A c.4313G>A p.G1438D Missense 32/58 - 1
17-29585502-CT-C c.4316del p.L1439* Frameshift 32/58 - 1
17-29585506-A-G c.4318A>G p.K1440E Missense 32/58 - 1
17-29585505-GA-G c.4319del p.K1440Sfs*2 Frameshift 32/58 - 1
17-29585505-G-GA c.4319dup p.L1441Vfs*26 Frameshift 32/58 - 1
17-29585508-GT-G c.4322del p.L1441* Frameshift 32/58 - 1
17-29585518-A-G c.4330A>G p.K1444E Missense 32/58 - 9
17-29585518-A-C c.4330A>C p.K1444Q Missense 32/58 - 1
17-29585519-A-G c.4331A>G p.K1444R Missense 32/58 - 1
17-29585519-A-C c.4331A>C p.K1444T Missense 32/58 - 1
17-29585519-A-T c.4331A>T p.K1444M Missense 32/58 - 1
17-29585516-CA-C c.4331del p.K1444Rfs*25 Frameshift 32/58 - 1
17-29585520-G-C c.4332G>C p.K1444N Missense 32/58 - 2
17-29585520-G-T c.4332G>T p.K1444N Missense 32/58 - 2
17-29585521-G-T c.4332+1G>T - IntronicSNV - 32/57 1
17-29585522-GT-G c.4332+2del - IntronicDeletion - 32/57 1
17-29585538-T-C c.4332+18T>C - IntronicSNV - 32/57 1
17-29586050-GATACT-G c.4333_4337del p.I1445Sfs*20 SpliceAcceptorDeletion 33/58 - 1
17-29586051-ATACTT-A c.4334_4338del p.I1445Tfs*20 SpliceAcceptorDeletion 33/58 - 1
17-29586054-T-C c.4337T>C p.L1446P Missense 33/58 - 1
17-29586056-C-T c.4339C>T p.Q1447* Nonsense 33/58 - 1
17-29586057-A-G c.4340A>G p.Q1447R Missense 33/58 - 1
17-29586068-AA-CT c.4351_4352delinsCT p.N1451L Missense 33/58 - 2
17-29586069-A-T c.4352A>T p.N1451I Missense 33/58 - 1
17-29586070-AT-A c.4353del p.H1452Mfs*17 Frameshift 33/58 - 1
17-29586071-C-T c.4354C>T p.H1452Y Missense 33/58 - 1
17-29586072-A-G c.4355A>G p.H1452R Missense 33/58 - 1
17-29586074-G-A c.4357G>A p.V1453I Missense 33/58 - 1
17-29586075-T-A c.4358T>A p.V1453D Missense 33/58 - 1
17-29586075-T-C c.4358T>C p.V1453A Missense 33/58 - 1
17-29586081-T-A c.4364T>A p.F1455Y Missense 33/58 - 1
17-29586082-TCACAAAAG-T c.4365_4372del p.F1455Lfs*9 Frameshift 33/58 - 1
17-29586087-A-G c.4370A>G p.K1457R Missense 33/58 - 1
17-29586089-G-A c.4372G>A p.E1458K Missense 33/58 - 1
17-29586089-GA-G c.4374del p.E1459Nfs*10 Frameshift 33/58 - 1
17-29586092-G-T c.4375G>T p.E1459* Nonsense 33/58 - 1
17-29586086-AAAG-A c.4375_4377del p.E1459del InFrameDeletion 33/58 - 1
17-29586096-A-G c.4379A>G p.H1460R Missense 33/58 - 1
17-29586098-TA-T c.4381del p.M1461Cfs*8 Frameshift 33/58 - 1
17-29586099-T-C c.4382T>C p.M1461T Missense 33/58 - 1
17-29586102-G-A c.4385G>A p.R1462Q Missense 33/58 - 2
17-29586105-C-T c.4388C>T p.P1463L Missense 33/58 - 2
17-29586107-T-C c.4390T>C p.F1464L Missense 33/58 - 1
17-29586109-C-A c.4392C>A p.F1464L Missense 33/58 - 1
17-29586109-C-G c.4392C>G p.F1464L Missense 33/58 - 1
17-29586109-C-CT c.4392_4393insT p.N1465* Nonsense 33/58 - 1
17-29586111-A-G c.4394A>G p.N1465S Missense 33/58 - 1
17-29586143-C-T c.4426C>T p.R1476C Missense 33/58 - 1
17-29586147-G-C c.4430G>C p.R1477T Missense 33/58 - 1
17-29586148-G-A c.4430+1G>A - IntronicSNV - 33/57 1
17-29586586-C-A c.4430+439C>A - IntronicSNV - 33/57 1
17-29587341-G-A c.4431-46G>A - IntronicSNV - 33/57 1
17-29587341-G-C c.4431-46G>C - IntronicSNV - 33/57 1
17-29587387-G-GT c.4436dup p.L1480Pfs*2 Frameshift 34/58 - 1
17-29587387-GT-G c.4436del p.F1479Sfs*4 Frameshift 34/58 - 1
17-29587398-A-G c.4442A>G p.D1481G Missense 34/58 - 1
17-29587401-T-C c.4445T>C p.I1482T Missense 34/58 - 2
17-29587404-C-T c.4448C>T p.A1483V Missense 34/58 - 1
17-29587408-CT-C c.4452del p.D1485Ifs*8 Frameshift 34/58 - 1
17-29587421-A-G c.4465A>G p.S1489G Missense 34/58 - 1
17-29587425-A-T c.4469A>T p.D1490V Missense 34/58 - 1
17-29587430-G-A c.4474G>A p.V1492I Missense 34/58 - 1
17-29587436-C-T c.4480C>T p.H1494Y Missense 34/58 - 2
17-29587442-C-T c.4486C>T p.L1496F Missense 34/58 - 1
17-29587446-C-T c.4490C>T p.S1497F Missense 34/58 - 2
17-29587451-A-G c.4495A>G p.I1499V Missense 34/58 - 1
17-29587464-A-G c.4508A>G p.N1503S Missense 34/58 - 2
17-29587464-A-AT c.4509dup p.V1504Cfs*26 Frameshift 34/58 - 1
17-29587476-T-C c.4520T>C p.L1507S Missense 34/58 - 1
17-29587481-TC-T c.4525del p.R1509Vfs*65 Frameshift 34/58 - 1
17-29587481-C-T c.4525C>T p.R1509C Missense 34/58 - 2
17-29587479-ATCGTCTACTC-A c.4525_4534del p.R1509Gfs*62 Frameshift 34/58 - 1
17-29587482-G-A c.4526G>A p.R1509H Missense 34/58 - 2
17-29587484-C-CG c.4528_4529insG p.L1510Rfs*20 Frameshift 34/58 - 1
17-29587488-T-C c.4532T>C p.L1511P Missense 34/58 - 1
17-29587491-G-A c.4535G>A p.W1512* Nonsense 34/58 - 2
17-29587492-G-A c.4536G>A p.W1512* Nonsense 34/58 - 2
17-29587490-TG-T c.4536del p.W1512* Frameshift 34/58 - 1
17-29587499-C-A c.4543C>A p.Q1515K Missense 34/58 - 1
17-29587500-A-G c.4544A>G p.Q1515R Missense 34/58 - 1
17-29587500-CA-C c.4544del p.Q1515Rfs*59 Frameshift 34/58 - 1
17-29587504-G-C c.4548G>C p.E1516D Missense 34/58 - 2
17-29587504-G-T c.4548G>T p.E1516D Missense 34/58 - 2
17-29587505-A-T c.4549A>T p.K1517* Nonsense 34/58 - 1
17-29587511-G-T c.4555G>T p.G1519W Missense 34/58 - 1
17-29587512-G-A c.4556G>A p.G1519E Missense 34/58 - 1
17-29587514-C-T c.4558C>T p.Q1520* Nonsense 34/58 - 2
17-29587519-T-A c.4563T>A p.Y1521* Nonsense 34/58 - 1
17-29587519-T-G c.4563T>G p.Y1521* Nonsense 34/58 - 1
17-29587528-C-G c.4572C>G p.S1524R Missense 34/58 - 2
17-29587532-AG-A c.4577+1del - Frameshift - 34/57 1
17-29587534-G-A c.4577+1G>A - IntronicSNV - 34/57 1
17-29587535-T-A c.4577+2T>A - IntronicSNV - 34/57 1
17-29587544-C-G c.4577+11C>G - IntronicSNV - 34/57 1
17-29587600-G-T c.4577+67G>T - IntronicSNV - 34/57 1
17-29587917-A-C c.4577+384A>C - IntronicSNV - 34/57 1
17-29588690-A-G c.4578-39A>G - IntronicSNV - 34/57 1
17-29588729-G-C c.4578G>C p.R1526S Missense 35/58 - 1
17-29588729-G-T c.4578G>T p.R1526S Missense 35/58 - 1
17-29588731-GATCATAAAGCT-G c.4580_4590del p.D1527Gfs*7 Frameshift 35/58 - 1
17-29588733-C-G c.4582C>G p.H1528D Missense 35/58 - 1
17-29588742-G-A c.4591G>A p.V1531I Missense 35/58 - 1
17-29588745-G-T c.4594G>T p.G1532* Nonsense 35/58 - 3
17-29588751-C-T c.4600C>T p.R1534* Nonsense 35/58 - 19
17-29588752-G-A c.4601G>A p.R1534Q Missense 35/58 - 2
17-29588758-T-C c.4607T>C p.F1536S Missense 35/58 - 1
17-29588760-G-C c.4609G>C p.D1537H Missense 35/58 - 1
17-29588760-G-GA c.4610dup p.D1537Efs*2 Frameshift 35/58 - 1
17-29588770-CA-C c.4621del p.T1541Hfs*33 Frameshift 35/58 - 1
17-29588773-C-T c.4622C>T p.T1541I Missense 35/58 - 1
17-29588775-C-G c.4624C>G p.L1542V Missense 35/58 - 1
17-29588778-C-G c.4627C>G p.L1543V Missense 35/58 - 1
17-29588779-T-G c.4628T>G p.L1543R Missense 35/58 - 1
17-29588781-TG-T c.4630del p.A1544Hfs*30 Frameshift 35/58 - 1
17-29588782-C-T c.4631C>T p.A1544V Missense 35/58 - 1
17-29588785-TACCTG-T c.4634_4638del p.Y1545Wfs*17 Frameshift 35/58 - 1
17-29588794-C-T c.4643C>T p.P1548L Missense 35/58 - 1
17-29588792-TCCTCCAGAGCA-T c.4643_4653del p.P1548Qfs*12 Frameshift 35/58 - 1
17-29588799-G-T c.4648G>T p.E1550* Nonsense 35/58 - 1
17-29588799-G-A c.4648G>A p.E1550K Missense 35/58 - 1
17-29588804-AC-A c.4653del p.H1551Qfs*23 Frameshift 35/58 - 1
17-29588811-G-A c.4660G>A p.V1554M Missense 35/58 - 2
17-29588817-G-C c.4666G>C p.D1556H Missense 35/58 - 1
17-29588827-G-A c.4676G>A p.W1559* Nonsense 35/58 - 2
17-29588828-G-A c.4677G>A p.W1559* Nonsense 35/58 - 3
17-29588833-G-T c.4682G>T p.S1561I Missense 35/58 - 1
17-29588836-TTAACC-T c.4687_4691del p.N1563Yfs*6 Frameshift 35/58 - 1
17-29588844-A-AG c.4693_4694insG p.T1565Sfs*6 Frameshift 35/58 - 1
17-29588845-C-A c.4694C>A p.T1565N Missense 35/58 - 1
17-29588851-C-A c.4700C>A p.S1567* Nonsense 35/58 - 2
17-29588851-C-G c.4700C>G p.S1567* Nonsense 35/58 - 5
17-29588851-CAAAGTTTG-C c.4702_4709del p.K1568Gfs*5 Frameshift 35/58 - 1
17-29588854-A-G c.4703A>G p.K1568R Missense 35/58 - 1
17-29588857-T-G c.4706T>G p.F1569C Missense 35/58 - 2
17-29588860-A-G c.4709A>G p.E1570G Missense 35/58 - 1
17-29588862-G-T c.4711G>T p.E1571* Nonsense 35/58 - 1
17-29588873-CT-C c.4722del p.R1575Gfs*13 Frameshift 35/58 - 1
17-29592260-G-C c.4738G>C p.E1580Q Missense 36/58 - 1
17-29592263-A-AG c.4741_4742insG p.K1581Rfs*41 Frameshift 36/58 - 1
17-29592265-A-AG c.4744dup p.E1582Gfs*40 Frameshift 36/58 - 1
17-29592264-AAG-A c.4744_4745del p.E1582Rfs*39 Frameshift 36/58 - 1
17-29592269-G-T c.4747G>T p.E1583* Nonsense 36/58 - 2
17-29592274-CA-C c.4754del p.K1585Rfs*3 Frameshift 36/58 - 1
17-29592278-G-A c.4756G>A p.A1586T Missense 36/58 - 2
17-29592274-CAAGGCTTTGAAAACGTT-C c.4756_4772del p.A1586Yfs*30 Frameshift 36/58 - 1
17-29592278-G-GT c.4756_4757insT p.A1586Vfs*36 Frameshift 36/58 - 1
17-29592288-C-T c.4766C>T p.T1589M Missense 36/58 - 2
17-29592291-T-G c.4769T>G p.L1590* Nonsense 36/58 - 1
17-29592289-GTTAAGTAT-G c.4770_4777del p.L1590Ffs*29 Frameshift 36/58 - 1
17-29592294-AGTATT-A c.4772_4776del p.S1591Ifs*29 Frameshift 36/58 - 1
17-29592301-C-G c.4779C>G p.F1593L Missense 36/58 - 1
17-29592301-TC-T c.4779del p.Y1594Tfs*30 Frameshift 36/58 - 1
17-29592312-G-T c.4790G>T p.G1597V Missense 36/58 - 1
17-29592312-G-C c.4790G>C p.G1597A Missense 36/58 - 1
17-29592314-A-G c.4792A>G p.T1598A Missense 36/58 - 1
17-29592315-C-A c.4793C>A p.T1598N Missense 36/58 - 2
17-29592318-C-T c.4796C>T p.S1599F Missense 36/58 - 2
17-29592319-CAA-C c.4799_4800del p.K1600Sfs*21 Frameshift 36/58 - 1
17-29592324-C-G c.4802C>G p.A1601G Missense 36/58 - 1
17-29592329-A-G c.4807A>G p.N1603D Missense 36/58 - 1
17-29592333-C-AA c.4811delinsAA p.P1604Qfs*18 Frameshift 36/58 - 1
17-29592339-T-A c.4817T>A p.F1606Y Missense 36/58 - 1
17-29592335-A-AT c.4819dup p.Y1607Lfs*15 Frameshift 36/58 - 1
17-29592343-T-G c.4821T>G p.Y1607* Nonsense 36/58 - 1
17-29592348-GTTGCACGGAGGTAAGAAATACTATGTTTTGGGTCTCTTAACAGAATTTTTTAAATTATA-G c.4826_4835+49del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 36/58 36/57 1
17-29592350-G-T c.4828G>T p.A1610S Missense 36/58 - 1
17-29592351-C-A c.4829C>A p.A1610E Missense 36/58 - 1
17-29592353-CG-TA c.4831_4832delinsTA p.R1611* Nonsense 36/58 - 1
17-29592353-C-T c.4831C>T p.R1611W Missense 36/58 - 3
17-29592354-G-A c.4832G>A p.R1611Q Missense 36/58 - 1
17-29592355-GGAGGTAAGAAAT-G c.4833_4835+9del - SpliceDonorDeletion 36/58 36/57 1
17-29592358-G-T c.4835+1G>T - IntronicSNV - 36/57 2
17-29602610-A-G c.4835+10253A>G - IntronicSNV - 36/57 1
17-29612657-G-A c.4835+20300G>A - IntronicSNV - 36/57 1
17-29613600-G-A c.4835+21243G>A - IntronicSNV - 36/57 1
17-29613600-G-C c.4835+21243G>C - IntronicSNV - 36/57 1
17-29621415-C-A c.4835+29058C>A - IntronicSNV - 36/57 1
17-29623288-C-T c.4836-29550C>T - IntronicSNV - 36/57 7
17-29625638-G-A c.4836-27200G>A - IntronicSNV - 36/57 2
17-29628549-C-A c.4836-24289C>A - IntronicSNV - 36/57 1
17-29629499-G-A c.4836-23339G>A - IntronicSNV - 36/57 1
17-29629499-G-T c.4836-23339G>T - IntronicSNV - 36/57 1
17-29630970-A-G c.4836-21868A>G - IntronicSNV - 36/57 2
17-29631119-A-T c.4836-21719A>T - IntronicSNV - 36/57 1
17-29631609-G-C c.4836-21229G>C - IntronicSNV - 36/57 1
17-29635594-C-T c.4836-17244C>T - IntronicSNV - 36/57 1
17-29642430-T-A c.4836-10408T>A - IntronicSNV - 36/57 1
17-29642430-T-C c.4836-10408T>C - IntronicSNV - 36/57 1
17-29643674-T-C c.4836-9164T>C - IntronicSNV - 36/57 1
17-29644852-G-A c.4836-7986G>A - IntronicSNV - 36/57 1
17-29646032-G-A c.4836-6806G>A - IntronicSNV - 36/57 6
17-29646032-G-C c.4836-6806G>C - IntronicSNV - 36/57 6
17-29647358-A-ATT c.4836-5478_4836-5477dup - IntronicInsertion - 36/57 1
17-29647358-A-AT c.4836-5477dup - IntronicInsertion - 36/57 1
17-29650308-G-A c.4836-2530G>A - IntronicSNV - 36/57 1
17-29650656-A-G c.4836-2182A>G - IntronicSNV - 36/57 1
17-29651229-C-T c.4836-1609C>T - IntronicSNV - 36/57 1
17-29652868-G-A c.4866G>A p.L1622= Synonymous 37/58 - 1
17-29652870-T-C c.4868T>C p.L1623P Missense 37/58 - 1
17-29652872-A-C c.4870A>C p.I1624L Missense 37/58 - 1
17-29652872-A-T c.4870A>T p.I1624L Missense 37/58 - 1
17-29652872-A-G c.4870A>G p.I1624V Missense 37/58 - 1
17-29652875-T-TA c.4874dup p.Y1625* Nonsense 37/58 - 1
17-29652877-C-A c.4875C>A p.Y1625* Nonsense 37/58 - 1
17-29652878-C-A c.4876C>A p.H1626N Missense 37/58 - 1
17-29652885-T-A c.4883T>A p.L1628* Nonsense 37/58 - 1
17-29652895-AAAGCCATATT-A c.4895_4904del p.K1632Mfs*8 Frameshift 37/58 - 1
17-29652904-T-A c.4902T>A p.Y1634* Nonsense 37/58 - 1
17-29652905-T-C c.4903T>C p.Y1635H Missense 37/58 - 1
17-29652917-T-A c.4915T>A p.Y1639N Missense 37/58 - 1
17-29652924-T-C c.4922T>C p.I1641T Missense 37/58 - 1
17-29652922-AATTGT-A c.4922_4926del p.I1641Sfs*9 Frameshift 37/58 - 1
17-29652927-T-A c.4925T>A p.V1642E Missense 37/58 - 1
17-29652928-A-G c.4926A>G p.V1642= Synonymous 37/58 - 1
17-29652931-G-A c.4929G>A p.V1643= Synonymous 37/58 - 1
17-29652931-G-T c.4929G>T p.V1643= Synonymous 37/58 - 1
17-29652932-G-T c.4930G>T p.D1644Y Missense 37/58 - 1
17-29652933-A-C c.4931A>C p.D1644A Missense 37/58 - 2
17-29652933-A-T c.4931A>T p.D1644V Missense 37/58 - 1
17-29652938-A-C c.4936A>C p.T1646P Missense 37/58 - 1
17-29652938-AC-TG c.4936_4937delinsTG p.T1646C Missense 37/58 - 1
17-29652944-A-G c.4942A>G p.T1648A Missense 37/58 - 2
17-29652945-C-T c.4943C>T p.T1648I Missense 37/58 - 1
17-29652947-G-A c.4945G>A p.G1649R Missense 37/58 - 1
17-29652948-G-A c.4946G>A p.G1649E Missense 37/58 - 1
17-29652959-C-T c.4957C>T p.R1653C Missense 37/58 - 1
17-29652960-G-A c.4958G>A p.R1653H Missense 37/58 - 1
17-29652960-GCTTTAAAA-G c.4960_4967del p.F1654Rfs*5 Frameshift 37/58 - 2
17-29652964-TA-T c.4966del p.T1656Qfs*42 Frameshift 37/58 - 1
17-29652971-AGACTTTCTCTCTAAGTGGTT-A c.4969_4988del p.D1657Cfs*18 Frameshift 37/58 - 1
17-29652975-TTCTC-T c.4977_4980del p.K1661Gfs*36 Frameshift 37/58 - 1
17-29652975-TTC-T c.4979_4980del p.S1660* Frameshift 37/58 - 3
17-29652987-G-T c.4985G>T p.W1662L Missense 37/58 - 1
17-29652987-G-A c.4985G>A p.W1662* Nonsense 37/58 - 4
17-29652988-G-A c.4986G>A p.W1662* Nonsense 37/58 - 3
17-29652988-GT-G c.4989del p.F1663Lfs*35 Frameshift 37/58 - 1
17-29652995-G-T c.4993G>T p.V1665F Missense 37/58 - 1
17-29653001-C-T c.4999C>T p.P1667S Missense 37/58 - 2
17-29653000-TC-T c.5000del p.P1667Lfs*31 Frameshift 37/58 - 1
17-29653004-G-GGT c.5003_5004insTG p.F1669Afs*30 Frameshift 37/58 - 1
17-29653011-C-CT c.5011dup p.Y1671Lfs*11 Frameshift 37/58 - 1
17-29653017-A-G c.5015A>G p.D1672G Missense 37/58 - 3
17-29653022-G-A c.5020G>A p.V1674I Missense 37/58 - 2
17-29653028-G-A c.5026G>A p.A1676T Missense 37/58 - 2
17-29653028-CGCAGTCT-C c.5026_5032del p.A1676Ifs*20 Frameshift 37/58 - 1
17-29653036-T-C c.5034T>C p.Y1678= Synonymous 37/58 - 1
17-29653037-A-G c.5035A>G p.I1679V Missense 37/58 - 2
17-29653031-GTCTATA-G c.5036_5041del p.I1679_Y1680del InFrameDeletion 37/58 - 1
17-29653035-ATATC-A c.5037_5040del p.Y1680Tfs*17 Frameshift 37/58 - 2
17-29653040-CTAT-C c.5038_5040del p.Y1680del InFrameDeletion 37/58 - 1
17-29653043-A-T c.5041A>T p.N1681Y Missense 37/58 - 1
17-29653047-G-A c.5045G>A p.C1682Y Missense 37/58 - 1
17-29653047-TG-T c.5045del p.C1682Lfs*16 Frameshift 37/58 - 1
17-29653047-G-GT c.5046dup p.N1683* Nonsense 37/58 - 1
17-29653048-T-GGTTAC c.5046delinsGGTTAC p.C1682Wfs*18 Frameshift 37/58 - 1
17-29653049-AACTCCT-GGAG c.5047_5053delinsGGAG p.N1683_W1685delinsGG MultiAAMissense 37/58 - 1
17-29653049-A-T c.5047A>T p.N1683Y Missense 37/58 - 1
17-29653055-TGG-GGTGGT c.5053_5055delinsGGTGGT p.W1685delinsGG MultiAAMissense 37/58 - 1
17-29653056-G-T c.5054G>T p.W1685L Missense 37/58 - 2
17-29653056-G-A c.5054G>A p.W1685* Nonsense 37/58 - 1
17-29653057-G-A c.5055G>A p.W1685* Nonsense 37/58 - 1
17-29653062-G-T c.5060G>T p.R1687M Missense 37/58 - 1
17-29653064-G-T c.5062G>T p.E1688* Nonsense 37/58 - 1
17-29653074-A-ATATAACTGTAACTCCTGGGTCAGGGAGTAC c.5072_5073insTATAACTGTAACTCCTGGGTCAGGGAGTAC p.K1691delinsNITVTPGSGST MultiAAMissense 37/58 - 1
17-29653074-A-ATATAACTGTAACT c.5072_5073insTATAACTGTAACT p.K1691Nfs*8 Frameshift 37/58 - 1
17-29653072-C-CAATATAACTGT c.5072_5073insTATAACTGTAA p.K1691Nfs*11 Frameshift 37/58 - 1
17-29653080-A-G c.5078A>G p.H1693R Missense 37/58 - 4
17-29653082-G-A c.5080G>A p.E1694K Missense 37/58 - 1
17-29653085-C-T c.5083C>T p.R1695W Missense 37/58 - 1
17-29653103-A-T c.5101A>T p.K1701* Nonsense 37/58 - 1
17-29653104-A-G c.5102A>G p.K1701R Missense 37/58 - 1
17-29653105-A-T c.5103A>T p.K1701N Missense 37/58 - 1
17-29653106-G-T c.5104G>T p.G1702C Missense 37/58 - 3
17-29653111-C-G c.5109C>G p.S1703R Missense 37/58 - 1
17-29653111-C-A c.5109C>A p.S1703R Missense 37/58 - 1
17-29653109-A-C c.5107A>C p.S1703R Missense 37/58 - 1
17-29653118-C-T c.5116C>T p.L1706F Missense 37/58 - 1
17-29653118-CT-C c.5118del p.V1707Ffs*3 Frameshift 37/58 - 2
17-29653122-T-A c.5120T>A p.V1707D Missense 37/58 - 1
17-29653122-T-C c.5120T>C p.V1707A Missense 37/58 - 1
17-29653124-T-TG c.5122_5123insG p.F1708Cfs*10 Frameshift 37/58 - 1
17-29653121-GT-G c.5123del p.F1708Sfs*2 Frameshift 37/58 - 1
17-29653126-C-G c.5124C>G p.F1708L Missense 37/58 - 1
17-29653129-A-AT c.5127_5128insT p.D1710* Nonsense 37/58 - 1
17-29653132-AC-A c.5130del p.C1711Vfs*9 Frameshift 37/58 - 1
17-29653130-GACTGTCCTGGGAA-G c.5133_5145del p.C1711Wfs*5 Frameshift 37/58 - 1
17-29653135-T-A c.5133T>A p.C1711* Nonsense 37/58 - 1
17-29653136-C-T c.5134C>T p.P1712S Missense 37/58 - 2
17-29653144-A-C c.5142A>C p.K1714N Missense 37/58 - 1
17-29653144-A-T c.5142A>T p.K1714N Missense 37/58 - 1
17-29653155-A-AC c.5154dup p.I1719Hfs*4 Frameshift 37/58 - 1
17-29653160-G-T c.5158G>T p.E1720* Nonsense 37/58 - 2
17-29653162-G-C c.5160G>C p.E1720D Missense 37/58 - 1
17-29653162-G-T c.5160G>T p.E1720D Missense 37/58 - 1
17-29653165-T-A c.5163T>A p.H1721Q Missense 37/58 - 1
17-29653165-T-G c.5163T>G p.H1721Q Missense 37/58 - 1
17-29653166-G-T c.5164G>T p.E1722* Nonsense 37/58 - 1
17-29653171-A-G c.5169A>G p.Q1723= Synonymous 37/58 - 1
17-29653171-A-T c.5169A>T p.Q1723H Missense 37/58 - 1
17-29653174-G-A c.5172G>A p.Q1724= Synonymous 37/58 - 2
17-29653188-CC-AG c.5186_5187delinsAG p.A1729E Missense 37/58 - 2
17-29653199-T-TAA c.5197_5198insAA p.L1733* Nonsense 37/58 - 1
17-29653200-T-G c.5198T>G p.L1733* Nonsense 37/58 - 1
17-29653197-CT-C c.5198del p.L1733* Frameshift 37/58 - 1
17-29653201-TAGAAGAG-T c.5199_5205del p.E1734Tfs*2 Frameshift 37/58 - 1
17-29653200-T-TA c.5199dup p.E1734Rfs*23 Frameshift 37/58 - 1
17-29653210-C-G c.5208C>G p.D1736E Missense 37/58 - 1
17-29653210-C-A c.5208C>A p.D1736E Missense 37/58 - 1
17-29653223-C-T c.5221C>T p.H1741Y Missense 37/58 - 1
17-29653227-A-G c.5225A>G p.N1742S Missense 37/58 - 1
17-29653229-G-C c.5227G>C p.A1743P Missense 37/58 - 1
17-29653235-A-G c.5233A>G p.K1745E Missense 37/58 - 1
17-29653236-A-C c.5234A>C p.K1745T Missense 37/58 - 1
17-29653237-G-A c.5235G>A p.K1745= Synonymous 37/58 - 1
17-29653244-C-T c.5242C>T p.H1748Y Missense 37/58 - 10
17-29653259-G-A c.5257G>A p.V1753I Missense 37/58 - 1
17-29653263-C-T c.5261C>T p.S1754F Missense 37/58 - 1
17-29653261-TTC-T c.5261_5262del p.S1754Yfs*2 Frameshift 37/58 - 1
17-29653260-TTTCTATTAAAGTAAG-T c.5262_5268+8del - SpliceDonorDeletion 37/58 37/57 1
17-29653265-A-G c.5263A>G p.I1755V Missense 37/58 - 1
17-29653267-T-TA c.5268dup p.V1757Sfs*25 SpliceDonorInsertion - - 1
17-29653293-T-C c.5268+23T>C - IntronicSNV - 37/57 1
17-29653297-C-T c.5268+27C>T - IntronicSNV - 37/57 1
17-29654521-G-T c.5273G>T p.G1758V Missense 38/58 - 1
17-29654523-TCTA-T c.5278_5280del p.T1760del InFrameDeletion 38/58 - 1
17-29654532-G-A c.5284G>A p.V1762I Missense 38/58 - 2
17-29654534-TCCAAGTAACTTCAGCAGAGCGAACAAAAGTCCTAGGGCAATCAGTCTTTCTAAATGACA-T c.5286_5344del p.Q1763Lfs*7 Frameshift 38/58 - 1
17-29654535-C-T c.5287C>T p.Q1763* Nonsense 38/58 - 2
17-29654553-C-T c.5305C>T p.R1769* Nonsense 38/58 - 11
17-29654563-T-A c.5315T>A p.V1772D Missense 38/58 - 1
17-29654566-T-C c.5318T>C p.L1773P Missense 38/58 - 1
17-29654564-CCTAGGGCAATCAGT-C c.5319_5332del p.G1774Sfs*3 Frameshift 38/58 - 1
17-29654571-C-T c.5323C>T p.Q1775* Nonsense 38/58 - 1
17-29654572-A-T c.5324A>T p.Q1775L Missense 38/58 - 1
17-29654577-GTC-TAA c.5329_5331delinsTAA p.V1777* Nonsense 38/58 - 1
17-29654578-T-A c.5330T>A p.V1777D Missense 38/58 - 2
17-29654589-G-T c.5341G>T p.D1781Y Missense 38/58 - 1
17-29654597-T-A c.5349T>A p.Y1783* Nonsense 38/58 - 1
17-29654597-T-G c.5349T>G p.Y1783* Nonsense 38/58 - 1
17-29654604-TCG-AAC c.5356_5358delinsAAC p.S1786N Missense 38/58 - 1
17-29654605-C-T c.5357C>T p.S1786L Missense 38/58 - 3
17-29654605-C-A c.5357C>A p.S1786* Nonsense 38/58 - 2
17-29654613-G-A c.5365G>A p.E1789K Missense 38/58 - 1
17-29654613-G-T c.5365G>T p.E1789* Nonsense 38/58 - 1
17-29654616-G-A c.5368G>A p.E1790K Missense 38/58 - 1
17-29654619-A-G c.5371A>G p.I1791V Missense 38/58 - 1
17-29654624-C-A c.5376C>A p.C1792* Nonsense 38/58 - 1
17-29654634-G-T c.5386G>T p.E1796* Nonsense 38/58 - 1
17-29654639-C-CA c.5391_5392insA p.Q1798Tfs*21 Frameshift 38/58 - 1
17-29654640-C-A c.5392C>A p.Q1798K Missense 38/58 - 1
17-29654643-T-C c.5395T>C p.F1799L Missense 38/58 - 1
17-29654645-C-A c.5397C>A p.F1799L Missense 38/58 - 1
17-29654645-C-G c.5397C>G p.F1799L Missense 38/58 - 1
17-29654645-CACCTTA-C c.5401_5406del p.L1801_T1802del InFrameDeletion 38/58 - 1
17-29654654-C-CT c.5406_5407insT p.I1803Yfs*16 Frameshift 38/58 - 1
17-29654655-A-G c.5407A>G p.I1803V Missense 38/58 - 2
17-29654663-C-G c.5415C>G p.N1805K Missense 38/58 - 1
17-29654664-C-T c.5416C>T p.Q1806* Nonsense 38/58 - 1
17-29654667-GG-AA c.5419_5420delinsAA p.G1807N Missense 38/58 - 1
17-29654670-A-T c.5422A>T p.T1808S Missense 38/58 - 1
17-29654673-C-T c.5425C>T p.P1809S Missense 38/58 - 18
17-29654673-C-A c.5425C>A p.P1809T Missense 38/58 - 2
17-29654673-C-G c.5425C>G p.P1809A Missense 38/58 - 1
17-29654672-GC-G c.5426del p.P1809Rfs*54 Frameshift 38/58 - 1
17-29654674-C-T c.5426C>T p.P1809L Missense 38/58 - 1
17-29654691-C-T c.5443C>T p.Q1815* Nonsense 38/58 - 1
17-29654691-CAG-AAC c.5443_5445delinsAAC p.Q1815N Missense 38/58 - 1
17-29654694-G-T c.5446G>T p.E1816* Nonsense 38/58 - 2
17-29654698-G-A c.5450G>A p.C1817Y Missense 38/58 - 1
17-29654706-A-G c.5458A>G p.I1820V Missense 38/58 - 1
17-29654712-C-T c.5464C>T p.Q1822* Nonsense 38/58 - 4
17-29654714-G-C c.5466G>C p.Q1822H Missense 38/58 - 1
17-29654718-A-G c.5470A>G p.I1824V Missense 38/58 - 1
17-29654718-A-AT c.5471dup p.I1825Hfs*37 Frameshift 38/58 - 1
17-29654719-T-G c.5471T>G p.I1824S Missense 38/58 - 1
17-29654722-T-C c.5474T>C p.I1825T Missense 38/58 - 1
17-29654724-C-A c.5476C>A p.H1826N Missense 38/58 - 1
17-29654730-C-T c.5482C>T p.R1828W Missense 38/58 - 1
17-29654734-C-G c.5486C>G p.T1829S Missense 38/58 - 1
17-29654733-A-T c.5485A>T p.T1829S Missense 38/58 - 1
17-29654736-C-T c.5488C>T p.R1830C Missense 38/58 - 11
17-29654736-C-A c.5488C>A p.R1830S Missense 38/58 - 2
17-29654737-G-C c.5489G>C p.R1830P Missense 38/58 - 1
17-29654741-G-A c.5493G>A p.W1831* Nonsense 38/58 - 1
17-29654742-G-T c.5494G>T p.E1832* Nonsense 38/58 - 1
17-29654751-C-T c.5503C>T p.Q1835* Nonsense 38/58 - 1
17-29654754-C-T c.5506C>T p.P1836S Missense 38/58 - 2
17-29654757-G-A c.5509G>A p.D1837N Missense 38/58 - 1
17-29654758-ACT-A c.5513_5514del p.S1838Yfs*23 Frameshift 38/58 - 1
17-29654766-C-T c.5518C>T p.P1840S Missense 38/58 - 1
17-29654769-C-T c.5521C>T p.Q1841* Nonsense 38/58 - 1
17-29654764-TC-T c.5521del p.Q1841Nfs*22 Frameshift 38/58 - 1
17-29654764-T-TC c.5521dup p.Q1841Pfs*21 Frameshift 38/58 - 1
17-29654778-A-T c.5530A>T p.K1844* Nonsense 38/58 - 1
17-29654784-C-T c.5536C>T p.R1846W Missense 38/58 - 3
17-29654785-G-A c.5537G>A p.R1846Q Missense 38/58 - 1
17-29654788-C-T c.5540C>T p.P1847L Missense 38/58 - 1
17-29654786-GC-G c.5540del p.P1847Qfs*16 Frameshift 38/58 - 1
17-29654793-G-A c.5545G>A p.D1849N Missense 38/58 - 2
17-29654793-G-T c.5545G>T p.D1849Y Missense 38/58 - 1
17-29654793-AG-A c.5545del p.D1849Mfs*14 Frameshift 38/58 - 1
17-29654794-A-T c.5546A>T p.D1849V Missense 38/58 - 1
17-29654799-C-T c.5551C>T p.P1851S Missense 38/58 - 4
17-29654802-G-A c.5554G>A p.G1852R Missense 38/58 - 1
17-29654811-C-A c.5563C>A p.L1855I Missense 38/58 - 2
17-29654819-C-A c.5571C>A p.I1857= Synonymous 38/58 - 1
17-29654819-C-T c.5571C>T p.I1857= Synonymous 38/58 - 1
17-29654820-G-A c.5572G>A p.A1858T Missense 38/58 - 4
17-29654828-T-TA c.5582dup p.N1861Kfs*6 Frameshift 38/58 - 1
17-29654836-G-C c.5588G>C p.G1863A Missense 38/58 - 1
17-29654836-G-A c.5588G>A p.G1863D Missense 38/58 - 1
17-29654843-T-TA c.5595_5596insA p.D1866Rfs*10 Frameshift 38/58 - 1
17-29654844-G-T c.5596G>T p.D1866Y Missense 38/58 - 1
17-29654848-C-T c.5600C>T p.P1867L Missense 38/58 - 1
17-29654848-C-A c.5600C>A p.P1867Q Missense 38/58 - 1
17-29654856-C-T c.5608C>T p.R1870W Missense 38/58 - 3
17-29654857-G-A c.5609G>A p.R1870Q Missense 38/58 - 5
17-29654858-G-T c.5609+1G>T - IntronicSNV - 38/57 1
17-29654876-T-A c.5609+19T>A - IntronicSNV - 38/57 2
17-29654879-T-A c.5609+22T>A - IntronicSNV - 38/57 1
17-29657316-C-A c.5612C>A p.S1871* Nonsense 39/58 - 1
17-29657316-C-G c.5612C>G p.S1871* Nonsense 39/58 - 1
17-29657325-A-G c.5621A>G p.Y1874C Missense 39/58 - 1
17-29657328-ATCT-A c.5628_5630del p.L1877del InFrameDeletion 39/58 - 1
17-29657334-CT-C c.5630del p.L1877Rfs*4 Frameshift 39/58 - 1
17-29657334-T-A c.5630T>A p.L1877Q Missense 39/58 - 1
17-29657333-CTG-C c.5634_5635del p.A1879Lfs*6 Frameshift 39/58 - 1
17-29657351-A-C c.5647A>C p.T1883P Missense 39/58 - 1
17-29657352-C-T c.5648C>T p.T1883I Missense 39/58 - 1
17-29657357-A-C c.5653A>C p.N1885H Missense 39/58 - 1
17-29657369-G-A c.5665G>A p.E1889K Missense 39/58 - 2
17-29657369-G-T c.5665G>T p.E1889* Nonsense 39/58 - 1
17-29657375-C-T c.5671C>T p.Q1891* Nonsense 39/58 - 1
17-29657376-A-G c.5672A>G p.Q1891R Missense 39/58 - 1
17-29657379-T-A c.5675T>A p.L1892* Nonsense 39/58 - 1
17-29657379-T-G c.5675T>G p.L1892* Nonsense 39/58 - 1
17-29657381-C-A c.5677C>A p.L1893I Missense 39/58 - 1
17-29657384-G-C c.5680G>C p.E1894Q Missense 39/58 - 1
17-29657384-G-T c.5680G>T p.E1894* Nonsense 39/58 - 1
17-29657393-G-A c.5689G>A p.G1897S Missense 39/58 - 1
17-29657395-T-G c.5691T>G p.G1897= Synonymous 39/58 - 1
17-29657400-G-A c.5696G>A p.C1899Y Missense 39/58 - 2
17-29657409-C-A c.5705C>A p.A1902D Missense 39/58 - 1
17-29657409-C-G c.5705C>G p.A1902G Missense 39/58 - 1
17-29657409-C-T c.5705C>T p.A1902V Missense 39/58 - 1
17-29657408-G-GC c.5706dup p.N1903Qfs*10 Frameshift 39/58 - 1
17-29657418-C-T c.5714C>T p.T1905I Missense 39/58 - 1
17-29657433-C-T c.5729C>T p.S1910F Missense 39/58 - 1
17-29657434-CT-C c.5730del p.I1911Lfs*14 Frameshift 39/58 - 1
17-29657440-GTA-G c.5736_5737del p.S1912Rfs*7 Frameshift 39/58 - 1
17-29657447-C-A c.5743C>A p.L1915M Missense 39/58 - 1
17-29657456-AAT-CAA c.5752_5754delinsCAA p.N1918Q Missense 39/58 - 1
17-29657457-A-G c.5753A>G p.N1918S Missense 39/58 - 1
17-29657459-G-T c.5755G>T p.E1919* Nonsense 39/58 - 1
17-29657461-GCCACA-G c.5760_5764del p.L1922Vfs*12 Frameshift 39/58 - 2
17-29657468-C-T c.5764C>T p.L1922F Missense 39/58 - 1
17-29657472-C-G c.5768C>G p.T1923R Missense 39/58 - 1
17-29657472-C-T c.5768C>T p.T1923M Missense 39/58 - 2
17-29657475-T-G c.5771T>G p.L1924* Nonsense 39/58 - 1
17-29657479-ATT-A c.5779_5780del p.L1927Gfs*8 Frameshift 39/58 - 1
17-29657485-TGG-T c.5781_5782del p.E1928Rfs*7 Frameshift 39/58 - 1
17-29657486-G-T c.5782G>T p.E1928* Nonsense 39/58 - 1
17-29657486-G-GAAATTA c.5784_5785insATTAAA p.E1928_E1929insIK InFrameInsertion 39/58 - 1
17-29657489-G-GGTACA c.5785_5786insGTACA p.E1929Gfs*15 Frameshift 39/58 - 1
17-29657493-G-T c.5789G>T p.C1930F Missense 39/58 - 1
17-29657493-G-A c.5789G>A p.C1930Y Missense 39/58 - 1
17-29657497-T-C c.5793T>C p.I1931= Synonymous 39/58 - 1
17-29657501-G-T c.5797G>T p.G1933* Nonsense 39/58 - 1
17-29657511-A-G c.5807A>G p.K1936R Missense 39/58 - 1
17-29657517-G-A c.5812+1G>A - IntronicSNV - 39/57 3
17-29657543-C-G c.5812+27C>G - IntronicSNV - 39/57 1
17-29657848-A-G c.5812+332A>G - IntronicSNV - 39/57 2
17-29659430-C-T c.5812+1914C>T - IntronicSNV - 39/57 1
17-29661871-CACCTT-C c.5828_5832del p.H1943Lfs*19 Frameshift 40/58 - 1
17-29661873-CT-C c.5833del p.C1945Vfs*5 Frameshift 40/58 - 1
17-29661882-G-T c.5839G>T p.E1947* Nonsense 40/58 - 1
17-29661887-C-A c.5844C>A p.Y1948* Nonsense 40/58 - 2
17-29661892-C-G c.5849C>G p.T1950S Missense 40/58 - 1
17-29661891-A-T c.5848A>T p.T1950S Missense 40/58 - 1
17-29661895-C-T c.5852C>T p.P1951L Missense 40/58 - 1
17-29661898-G-A c.5855G>A p.W1952* Nonsense 40/58 - 2
17-29661899-G-A c.5856G>A p.W1952* Nonsense 40/58 - 1
17-29661904-C-A c.5861C>A p.S1954* Nonsense 40/58 - 2
17-29661904-C-G c.5861C>G p.S1954* Nonsense 40/58 - 3
17-29661913-T-C c.5870T>C p.V1957A Missense 40/58 - 1
17-29661916-GT-G c.5878del p.C1960Afs*19 Frameshift 40/58 - 1
17-29661921-TTGCAAGCATA-T c.5878_5887del p.C1960Mfs*16 Frameshift 40/58 - 1
17-29661931-A-C c.5888A>C p.N1963T Missense 40/58 - 1
17-29661933-G-T c.5890G>T p.D1964Y Missense 40/58 - 1
17-29661937-A-AAC c.5894_5895insAC p.D1965Efs*15 Frameshift 40/58 - 1
17-29661936-G-GAC c.5894_5895insCA p.A1966Mfs*14 Frameshift 40/58 - 1
17-29661942-A-T c.5899A>T p.K1967* Nonsense 40/58 - 1
17-29661945-C-T c.5902C>T p.R1968* Nonsense 40/58 - 18
17-29661948-CAA-C c.5907_5908del p.R1970Sfs*6 Frameshift 40/58 - 1
17-29661956-T-TA c.5914dup p.T1972Nfs*5 Frameshift 40/58 - 2
17-29661958-C-A c.5915C>A p.T1972N Missense 40/58 - 1
17-29661976-T-G c.5933T>G p.L1978R Missense 40/58 - 1
17-29661976-TGATAACAATGACCATCAATGAAAAACA-T c.5937_5963del p.I1979_Q1987del InFrameDeletion 40/58 - 1
17-29661986-G-T c.5943G>T p.M1981I Missense 40/58 - 1
17-29661988-C-A c.5945C>A p.T1982N Missense 40/58 - 1
17-29661994-A-G c.5951A>G p.N1984S Missense 40/58 - 1
17-29662002-C-T c.5959C>T p.Q1987* Nonsense 40/58 - 1
17-29662012-C-A c.5969C>A p.P1990Q Missense 40/58 - 1
17-29662013-A-G c.5970A>G p.P1990= Synonymous 40/58 - 1
17-29662019-T-C c.5976T>C p.I1992= Synonymous 40/58 - 1
17-29662019-T-A c.5976T>A p.I1992= Synonymous 40/58 - 1
17-29662020-C-T c.5977C>T p.Q1993* Nonsense 40/58 - 1
17-29662019-TCAAG-T c.5980_5983del p.A1994Kfs*17 Frameshift 40/58 - 1
17-29662033-G-A c.5990G>A p.W1997* Nonsense 40/58 - 2
17-29662034-G-A c.5991G>A p.W1997* Nonsense 40/58 - 2
17-29662035-G-C c.5992G>C p.G1998R Missense 40/58 - 1
17-29662041-C-G c.5998C>G p.L2000V Missense 40/58 - 2
17-29662045-G-A c.6002G>A p.G2001E Missense 40/58 - 1
17-29662047-C-T c.6004C>T p.Q2002* Nonsense 40/58 - 1
17-29662050-G-T c.6006+1G>T - IntronicSNV - 40/57 1
17-29663172-A-C c.6007-179A>C - IntronicSNV - 40/57 1
17-29663294-A-C c.6007-57A>C - IntronicSNV - 40/57 1
17-29663359-T-G c.6015T>G p.D2005E Missense 41/58 - 1
17-29663359-T-A c.6015T>A p.D2005E Missense 41/58 - 1
17-29663363-C-T c.6019C>T p.L2007F Missense 41/58 - 1
17-29663377-A-C c.6033A>C p.L2011= Synonymous 41/58 - 1
17-29663377-A-G c.6033A>G p.L2011= Synonymous 41/58 - 1
17-29663381-A-G c.6037A>G p.S2013G Missense 41/58 - 1
17-29663388-T-A c.6044T>A p.I2015N Missense 41/58 - 1
17-29663393-A-C c.6049A>C p.T2017P Missense 41/58 - 1
17-29663397-G-T c.6053G>T p.S2018I Missense 41/58 - 1
17-29663399-TGC-T c.6055_6056del p.A2019Nfs*10 Frameshift 41/58 - 1
17-29663399-G-GC c.6056dup p.T2020Nfs*10 Frameshift 41/58 - 1
17-29663405-G-C c.6061G>C p.G2021R Missense 41/58 - 1
17-29663418-C-T c.6074C>T p.S2025L Missense 41/58 - 1
17-29663421-T-C c.6077T>C p.I2026T Missense 41/58 - 1
17-29663421-TAAA-T c.6079_6081del p.K2027del InFrameDeletion 41/58 - 1
17-29663429-G-T c.6085G>T p.E2029* Nonsense 41/58 - 2
17-29663441-G-A c.6097G>A p.D2033N Missense 41/58 - 6
17-29663445-C-T c.6101C>T p.T2034I Missense 41/58 - 1
17-29663444-ACTGCTGTAG-A c.6103_6111del p.A2035_A2037del InFrameDeletion 41/58 - 1
17-29663452-A-T c.6108A>T p.V2036= Synonymous 41/58 - 1
17-29663480-G-C c.6136G>C p.V2046L Missense 41/58 - 1
17-29663492-G-A c.6147+1G>A - IntronicSNV - 41/57 1
17-29663499-C-G c.6147+8C>G - IntronicSNV - 41/57 2
17-29663499-C-T c.6147+8C>T - IntronicSNV - 41/57 1
17-29663625-T-A c.6148-28T>A - IntronicSNV - 41/57 1
17-29663674-A-G c.6169A>G p.I2057V Missense 42/58 - 1
17-29663676-A-T c.6171A>T p.I2057= Synonymous 42/58 - 1
17-29663677-A-G c.6172A>G p.I2058V Missense 42/58 - 1
17-29663690-G-A c.6185G>A p.C2062Y Missense 42/58 - 1
17-29663708-C-T c.6203C>T p.T2068I Missense 42/58 - 2
17-29663711-T-G c.6206T>G p.L2069* Nonsense 42/58 - 1
17-29663716-C-T c.6211C>T p.Q2071* Nonsense 42/58 - 1
17-29663722-C-G c.6217C>G p.L2073V Missense 42/58 - 2
17-29663729-G-T c.6224G>T p.W2075L Missense 42/58 - 1
17-29663731-G-A c.6226G>A p.D2076N Missense 42/58 - 1
17-29663735-A-C c.6230A>C p.D2077A Missense 42/58 - 1
17-29663735-A-G c.6230A>G p.D2077G Missense 42/58 - 1
17-29663741-GC-G c.6236del p.A2079Vfs*3 Frameshift 42/58 - 1
17-29663747-T-G c.6242T>G p.L2081* Nonsense 42/58 - 1
17-29663752-C-T c.6247C>T p.R2083C Missense 42/58 - 1
17-29663753-G-A c.6248G>A p.R2083H Missense 42/58 - 1
17-29663759-ATGCTG-A c.6254_6258del p.M2085Nfs*9 Frameshift 42/58 - 1
17-29663761-CTG-TTT c.6256_6258delinsTTT p.L2086F Missense 42/58 - 2
17-29663768-T-C c.6263T>C p.L2088P Missense 42/58 - 1
17-29663770-TCCTTCAACAATTCC-T c.6267_6280del p.F2090* Frameshift 42/58 - 1
17-29663773-T-TAA c.6268_6269insAA p.F2090* Nonsense 42/58 - 1
17-29663778-C-CT c.6273_6274insT p.N2092* Nonsense 42/58 - 1
17-29663779-CAATTCCCT-C c.6274_6281del p.N2092* Frameshift 42/58 - 1
17-29663783-C-T c.6278C>T p.S2093F Missense 42/58 - 1
17-29663788-G-A c.6283G>A p.D2095N Missense 42/58 - 1
17-29663794-G-GA c.6289_6290insA p.A2097Dfs*23 Frameshift 42/58 - 1
17-29663795-C-CA c.6291dup p.A2098Sfs*22 Frameshift 42/58 - 1
17-29663795-CAGCTCATCTTCCCTACCTCTTCCACGTTGTT-C c.6292_6322del p.A2098Lfs*3 Frameshift 42/58 - 1
17-29663798-C-G c.6293C>G p.A2098G Missense 42/58 - 1
17-29663807-C-G c.6302C>G p.P2101R Missense 42/58 - 1
17-29663821-G-T c.6316G>T p.V2106F Missense 42/58 - 1
17-29663827-ACTTT-A c.6326_6329del p.F2109* Frameshift 42/58 - 1
17-29663834-T-A c.6329T>A p.L2110* Nonsense 42/58 - 1
17-29663848-C-T c.6343C>T p.P2115S Missense 42/58 - 1
17-29663849-C-T c.6344C>T p.P2115L Missense 42/58 - 1
17-29663855-C-T c.6350C>T p.S2117F Missense 42/58 - 1
17-29663859-T-TC c.6354_6355insC p.R2119Qfs*10 Frameshift 42/58 - 1
17-29663861-G-C c.6356G>C p.R2119T Missense 42/58 - 1
17-29663866-TC-AA c.6361_6362delinsAA p.S2121N Missense 42/58 - 1
17-29663869-CA-C c.6364del p.T2122Hfs*28 Frameshift 42/58 - 1
17-29663872-C-A c.6367C>A p.H2123N Missense 42/58 - 1
17-29663875-G-A c.6370G>A p.G2124R Missense 42/58 - 1
17-29663876-G-T c.6371G>T p.G2124V Missense 42/58 - 1
17-29663879-T-G c.6374T>G p.L2125R Missense 42/58 - 1
17-29663880-G-A c.6375G>A p.L2125= Synonymous 42/58 - 1
17-29663881-G-A c.6376G>A p.V2126I Missense 42/58 - 2
17-29663884-A-G c.6379A>G p.I2127V Missense 42/58 - 1
17-29663897-ACT-A c.6397_6398del p.L2133Vfs*9 Frameshift 42/58 - 1
17-29663902-CTG-C c.6401_6402del p.C2134Yfs*8 Frameshift 42/58 - 2
17-29663907-T-TAG c.6403_6404insGA p.T2135Rfs*16 Frameshift 42/58 - 1
17-29663909-C-T c.6404C>T p.T2135I Missense 42/58 - 1
17-29663909-C-CT c.6406dup p.C2136Lfs*7 Frameshift 42/58 - 1
17-29663912-GT-G c.6409del p.S2137Hfs*13 Frameshift 42/58 - 1
17-29663917-C-T c.6412C>T p.Q2138* Nonsense 42/58 - 1
17-29663930-G-A c.6425G>A p.S2142N Missense 42/58 - 2
17-29663932-G-A c.6427G>A p.E2143K Missense 42/58 - 1
17-29663934-T-G c.6427+2T>G - IntronicSNV - 42/57 1
17-29664388-G-C c.6430G>C p.E2144Q Missense 43/58 - 1
17-29664391-AC-A c.6435del p.K2146Sfs*4 Frameshift 43/58 - 1
17-29664391-ACCAAG-A c.6435_6439del p.K2146Sfs*21 Frameshift 43/58 - 1
17-29664397-C-T c.6439C>T p.Q2147* Nonsense 43/58 - 1
17-29664401-T-A c.6443T>A p.V2148D Missense 43/58 - 1
17-29664406-A-T c.6448A>T p.R2150* Nonsense 43/58 - 1
17-29664413-G-C c.6455G>C p.S2152T Missense 43/58 - 1
17-29664414-T-C c.6456T>C p.S2152= Synonymous 43/58 - 1
17-29664420-A-AT c.6462_6463insT p.E2155* Nonsense 43/58 - 1
17-29664428-C-A c.6470C>A p.S2157* Nonsense 43/58 - 1
17-29664428-C-G c.6470C>G p.S2157* Nonsense 43/58 - 1
17-29664428-C-T c.6470C>T p.S2157L Missense 43/58 - 1
17-29664436-A-G c.6478A>G p.K2160E Missense 43/58 - 1
17-29664438-AATTTTACTTGC-A c.6480_6490del p.K2160Nfs*5 Frameshift 43/58 - 1
17-29664448-C-G c.6490C>G p.L2164V Missense 43/58 - 1
17-29664446-TGCTGTTTGGCATTAGCAAAGTCAAGTCA-T c.6493_6520del p.F2165Lfs*26 Frameshift 43/58 - 1
17-29664455-G-A c.6497G>A p.G2166D Missense 43/58 - 1
17-29664463-A-T c.6505A>T p.K2169* Nonsense 43/58 - 1
17-29664470-A-AC c.6512_6513insC p.K2171Nfs*23 Frameshift 43/58 - 1
17-29664478-GC-TG c.6520_6521delinsTG p.A2174C Missense 43/58 - 1
17-29664489-CT-C c.6533del p.F2178Sfs*22 Frameshift 43/58 - 1
17-29664493-C-T c.6535C>T p.R2179C Missense 43/58 - 4
17-29664494-G-T c.6536G>T p.R2179L Missense 43/58 - 1
17-29664494-G-A c.6536G>A p.R2179H Missense 43/58 - 1
17-29664506-G-T c.6548G>T p.R2183L Missense 43/58 - 1
17-29664509-A-G c.6551A>G p.D2184G Missense 43/58 - 1
17-29664521-C-T c.6563C>T p.S2188F Missense 43/58 - 1
17-29664534-T-A c.6576T>A p.Y2192* Nonsense 43/58 - 2
17-29664537-G-C c.6579G>C p.E2193D Missense 43/58 - 1
17-29664537-G-T c.6579G>T p.E2193D Missense 43/58 - 1
17-29664540-A-AT c.6582_6583insT p.E2195* Nonsense 43/58 - 1
17-29664541-G-T c.6583G>T p.E2195* Nonsense 43/58 - 1
17-29664545-CTT-C c.6590_6591del p.F2197Cfs*44 Frameshift 43/58 - 1
17-29664552-T-G c.6594T>G p.A2198= Synonymous 43/58 - 1
17-29664569-C-T c.6611C>T p.T2204I Missense 43/58 - 1
17-29664572-T-C c.6614T>C p.V2205A Missense 43/58 - 1
17-29664575-C-G c.6617C>G p.T2206R Missense 43/58 - 1
17-29664580-G-A c.6622G>A p.A2208T Missense 43/58 - 2
17-29664581-C-A c.6623C>A p.A2208D Missense 43/58 - 1
17-29664582-T-C c.6624T>C p.A2208= Synonymous 43/58 - 1
17-29664598-G-T c.6640G>T p.E2214* Nonsense 43/58 - 2
17-29664598-G-A c.6640G>A p.E2214K Missense 43/58 - 1
17-29664600-G-C c.6642G>C p.E2214D Missense 43/58 - 1
17-29664600-G-T c.6642G>T p.E2214D Missense 43/58 - 1
17-29664618-A-G c.6642+18A>G - IntronicSNV - 43/57 1
17-29664645-T-A c.6642+45T>A - IntronicSNV - 43/57 1
17-29664842-C-T c.6648C>T p.C2216= Synonymous 44/58 - 1
17-29664847-AGAGATATTCCAACGTGCAAGTGGCTGGACCAGTGGACAGAACTAGCTCAAAGGTATGTC-A c.6653_6704+7del - SpliceDonorDeletion 44/58 44/57 1
17-29664849-G-A c.6655G>A p.D2219N Missense 44/58 - 1
17-29664844-TGA-T c.6655_6656del p.D2219Yfs*22 Frameshift 44/58 - 1
17-29664851-T-G c.6657T>G p.D2219E Missense 44/58 - 1
17-29664855-C-T c.6661C>T p.P2221S Missense 44/58 - 1
17-29664858-A-G c.6664A>G p.T2222A Missense 44/58 - 2
17-29664865-A-G c.6671A>G p.K2224R Missense 44/58 - 1
17-29664869-G-A c.6675G>A p.W2225* Nonsense 44/58 - 1
17-29664876-C-T c.6682C>T p.Q2228* Nonsense 44/58 - 1
17-29664876-CAGTGG-C c.6684_6688del p.Q2228Hfs*12 Frameshift 44/58 - 1
17-29664880-G-A c.6686G>A p.W2229* Nonsense 44/58 - 2
17-29664881-G-A c.6687G>A p.W2229* Nonsense 44/58 - 4
17-29664885-G-T c.6691G>T p.E2231* Nonsense 44/58 - 2
17-29664894-C-G c.6700C>G p.Q2234E Missense 44/58 - 1
17-29664894-C-T c.6700C>T p.Q2234* Nonsense 44/58 - 2
17-29664899-G-A c.6704+1G>A - IntronicSNV - 44/57 1
17-29665047-G-A c.6709G>A p.A2237T Missense 45/58 - 1
17-29665048-C-T c.6710C>T p.A2237V Missense 45/58 - 1
17-29665053-C-T c.6715C>T p.Q2239* Nonsense 45/58 - 4
17-29665053-CAA-AAC c.6715_6717delinsAAC p.Q2239N Missense 45/58 - 1
17-29665053-C-A c.6715C>A p.Q2239K Missense 45/58 - 1
17-29665054-A-T c.6716A>T p.Q2239L Missense 45/58 - 1
17-29665056-T-TAGCAAACGAGTGTCTTC c.6719_6720insGCAAACGAGTGTCTTCA p.Y2240* Nonsense 45/58 - 1
17-29665062-C-T c.6724C>T p.P2242S Missense 45/58 - 1
17-29665063-C-T c.6725C>T p.P2242L Missense 45/58 - 1
17-29665065-T-TA c.6727_6728insA p.S2243Yfs*14 Frameshift 45/58 - 1
17-29665071-C-CA c.6735dup p.P2246Tfs*11 Frameshift 45/58 - 1
17-29665083-CTTG-C c.6750_6752del p.V2251del InFrameDeletion 45/58 - 2
17-29665095-G-T c.6757G>T p.G2253W Missense 45/58 - 1
17-29665096-G-A c.6758G>A p.G2253E Missense 45/58 - 1
17-29665100-GTATTAGCAAACGAGTGTCTCAT-G c.6762_6783del p.C2254Wfs*4 Frameshift 45/58 - 1
17-29665110-C-T c.6772C>T p.R2258* Nonsense 45/58 - 16
17-29665111-G-A c.6773G>A p.R2258Q Missense 45/58 - 1
17-29665111-G-T c.6773G>T p.R2258L Missense 45/58 - 1
17-29665114-T-A c.6776T>A p.V2259E Missense 45/58 - 1
17-29665115-TG-T c.6777del p.S2260Lfs*5 Frameshift 45/58 - 1
17-29665119-C-CTT c.6781_6782insTT p.H2261Lfs*5 Frameshift 45/58 - 1
17-29665120-A-T c.6782A>T p.H2261L Missense 45/58 - 1
17-29665125-C-T c.6787C>T p.Q2263* Nonsense 45/58 - 1
17-29665125-GCAGA-G c.6787_6790del p.Q2263* Frameshift 45/58 - 1
17-29665125-CAGAT-C c.6789_6792del p.I2264Sfs*3 Frameshift 45/58 - 3
17-29665126-AGATAAAGCAGATAATCC-A c.6790_6806del p.I2264Yfs*3 Frameshift 45/58 - 2
17-29665127-G-GA c.6790dup p.I2264Nfs*9 Frameshift 45/58 - 1
17-29665128-A-AT c.6791dup p.Q2266Afs*7 Frameshift 45/58 - 1
17-29665129-T-TA c.6794dup p.Q2266Afs*7 Frameshift 45/58 - 6
17-29665129-T-TAAAGAAAAGC c.6795_6796insAAAAGCAAAG p.Q2266Kfs*10 Frameshift 45/58 - 1
17-29665134-C-T c.6796C>T p.Q2266* Nonsense 45/58 - 1
17-29665138-T-G c.6800T>G p.I2267R Missense 45/58 - 1
17-29665143-C-T c.6805C>T p.R2269C Missense 45/58 - 1
17-29665141-TC-T c.6805del p.R2269Vfs*11 Frameshift 45/58 - 1
17-29665144-G-C c.6806G>C p.R2269P Missense 45/58 - 1
17-29665152-TAGCAAGG-T c.6814_6819+1del - SpliceDonorDeletion 45/58 45/57 1
17-29665156-A-T c.6818A>T p.K2273M Missense 45/58 - 1
17-29665157-G-T c.6819G>T p.K2273N Missense 45/58 - 1
17-29665158-G-A c.6819+1G>A - IntronicSNV - 45/57 2
17-29665160-TA-T c.6819+3del - IntronicDeletion - 45/57 1
17-29665735-TGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCTACAGTAATAGCA-T c.6833_6891del p.C2278Sfs*9 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 46/58 - 1
17-29665736-GC-G c.6834del p.L2279* Frameshift 46/58 - 1
17-29665743-G-T c.6841G>T p.G2281* Nonsense 46/58 - 1
17-29665753-C-T c.6851C>T p.T2284I Missense 46/58 - 1
17-29665751-CACTT-C c.6852_6855del p.Y2285Tfs*5 Frameshift 46/58 - 12
17-29665755-TTACA-T c.6853_6856del p.Y2285Tfs*5 Frameshift 46/58 - 3
17-29665755-T-TA c.6854dup p.Y2285* Nonsense 46/58 - 8
17-29665757-C-A c.6855C>A p.Y2285* Nonsense 46/58 - 17
17-29665757-C-G c.6855C>G p.Y2285* Nonsense 46/58 - 6
17-29665764-C-T c.6862C>T p.Q2288* Nonsense 46/58 - 2
17-29665760-CAGTCA-C c.6862_6866del p.Q2288Sfs*17 Frameshift 46/58 - 1
17-29665764-C-CCG c.6862_6863insCG p.Q2288Pfs*4 Frameshift 46/58 - 1
17-29665786-T-C c.6884T>C p.V2295A Missense 46/58 - 1
17-29665806-C-T c.6904C>T p.Q2302* Nonsense 46/58 - 2
17-29665809-C-T c.6907C>T p.P2303S Missense 46/58 - 1
17-29665823-G-A c.6921G>A p.K2307= Synonymous 46/58 - 1
17-29666588-T-C c.6921+765T>C - IntronicSNV - 46/57 2
17-29667528-GC-G c.6929del p.P2310Lfs*9 Frameshift 47/58 - 1
17-29667541-G-GC c.6943dup p.L2315Pfs*12 Frameshift 47/58 - 1
17-29667546-C-G c.6945C>G p.L2315= Synonymous 47/58 - 1
17-29667546-C-T c.6945C>T p.L2315= Synonymous 47/58 - 1
17-29667546-C-A c.6945C>A p.L2315= Synonymous 47/58 - 1
17-29667547-T-C c.6946T>C p.F2316L Missense 47/58 - 1
17-29667549-T-A c.6948T>A p.F2316L Missense 47/58 - 1
17-29667549-T-G c.6948T>G p.F2316L Missense 47/58 - 1
17-29667551-G-T c.6950G>T p.W2317L Missense 47/58 - 1
17-29667551-G-A c.6950G>A p.W2317* Nonsense 47/58 - 3
17-29667552-G-A c.6951G>A p.W2317* Nonsense 47/58 - 2
17-29667553-G-T c.6952G>T p.V2318L Missense 47/58 - 1
17-29667556-G-A c.6955G>A p.A2319T Missense 47/58 - 1
17-29667560-GT-G c.6959del p.V2320Gfs*26 Frameshift 47/58 - 1
17-29667561-G-T c.6960G>T p.V2320= Synonymous 47/58 - 1
17-29667561-G-A c.6960G>A p.V2320= Synonymous 47/58 - 1
17-29667561-G-C c.6960G>C p.V2320= Synonymous 47/58 - 1
17-29667563-C-A c.6962C>A p.A2321D Missense 47/58 - 1
17-29667562-G-GC c.6962dup p.V2322Cfs*5 Frameshift 47/58 - 1
17-29667563-C-T c.6962C>T p.A2321V Missense 47/58 - 1
17-29667568-CT-TA c.6967_6968delinsTA p.L2323* Nonsense 47/58 - 1
17-29667569-T-C c.6968T>C p.L2323P Missense 47/58 - 1
17-29667571-C-T c.6970C>T p.Q2324* Nonsense 47/58 - 1
17-29667575-T-G c.6974T>G p.L2325R Missense 47/58 - 1
17-29667577-G-C c.6976G>C p.D2326H Missense 47/58 - 1
17-29667593-TATTCAGCAGGTACCG-T c.6992_7006del p.Y2331_A2336delinsS MultiAAMissense 47/58 - 1
17-29667596-C-A c.6995C>A p.S2332* Nonsense 47/58 - 1
17-29667601-G-T c.7000G>T p.G2334C Missense 47/58 - 1
17-29667602-G-A c.7001G>A p.G2334D Missense 47/58 - 1
17-29667604-A-G c.7003A>G p.T2335A Missense 47/58 - 1
17-29667607-G-A c.7006G>A p.A2336T Missense 47/58 - 2
17-29667610-C-T c.7009C>T p.L2337F Missense 47/58 - 2
17-29667611-T-G c.7010T>G p.L2337R Missense 47/58 - 1
17-29667614-T-A c.7013T>A p.L2338H Missense 47/58 - 1
17-29667613-CT-C c.7014del p.E2339Nfs*7 Frameshift 47/58 - 2
17-29667623-AC-A c.7024del p.L2342Cfs*4 Frameshift 47/58 - 1
17-29667635-T-G c.7034T>G p.L2345* Nonsense 47/58 - 1
17-29667636-A-AT c.7035_7036insT p.D2346* Nonsense 47/58 - 2
17-29667644-T-TC c.7045dup p.R2349Pfs*5 Frameshift 47/58 - 1
17-29667651-TATTCAATGACAAGGTAAGCAAACTTTGCCTTGAGGTTCCTAGATTACTCAAATTTAGTA-T c.7050_7062+46del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 47/58 47/57 1
17-29667652-T-TAA c.7051_7052insAA p.F2351* Nonsense 47/58 - 1
17-29667654-C-G c.7053C>G p.F2351L Missense 47/58 - 1
17-29667660-C-G c.7059C>G p.D2353E Missense 47/58 - 1
17-29667665-T-C c.7062+2T>C - IntronicSNV - 47/57 1
17-29669947-A-G c.7063-80A>G - IntronicSNV - 47/57 1
17-29670033-G-T c.7069G>T p.E2357* Nonsense 48/58 - 2
17-29670035-G-GT c.7071_7072insT p.E2358* Nonsense 48/58 - 1
17-29670039-GTATT-G c.7079_7082del p.F2360Wfs*35 Frameshift 48/58 - 1
17-29670044-T-TGG c.7080_7081insGG p.M2361Gfs*36 Frameshift 48/58 - 1
17-29670045-A-AAGGGGCCC c.7081_7082insAGGGGCCC p.M2361Kfs*38 Frameshift 48/58 - 1
17-29670045-A-ACC c.7081_7082insCC p.M2361Tfs*36 Frameshift 48/58 - 1
17-29670046-T-C c.7082T>C p.M2361T Missense 48/58 - 1
17-29670048-G-GGA c.7084_7085insGA p.A2362Gfs*35 Frameshift 48/58 - 1
17-29670054-C-T c.7090C>T p.R2364W Missense 48/58 - 1
17-29670055-G-A c.7091G>A p.R2364Q Missense 48/58 - 1
17-29670058-A-G c.7094A>G p.N2365S Missense 48/58 - 1
17-29670060-TCCTCTG-T c.7096_7101del p.P2366_L2367del InFrameDeletion 48/58 - 3
17-29670061-C-A c.7097C>A p.P2366H Missense 48/58 - 1
17-29670063-TCTGG-T c.7099_7102del p.L2367Sfs*28 Frameshift 48/58 - 1
17-29670063-C-G c.7099C>G p.L2367V Missense 48/58 - 1
17-29670070-G-A c.7106G>A p.W2369* Nonsense 48/58 - 1
17-29670071-G-A c.7107G>A p.W2369* Nonsense 48/58 - 4
17-29670077-C-A c.7113C>A p.C2371* Nonsense 48/58 - 1
17-29670077-CA-C c.7115del p.K2372Sfs*24 Frameshift 48/58 - 1
17-29670087-G-C c.7123G>C p.D2375H Missense 48/58 - 1
17-29670087-G-A c.7123G>A p.D2375N Missense 48/58 - 1
17-29670090-C-T c.7126C>T p.H2376Y Missense 48/58 - 1
17-29670091-CATTTTGTTGGACTCAATTTCAACTCTAACTTTAACTTTGCATTGGTTGGACACCTTTTA-C c.7128_7186del p.H2376Qfs*26 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 48/58 - 1
17-29670101-GACTCAAT-G c.7137_7143del p.L2380Sfs*14 Frameshift 48/58 - 1
17-29670110-C-A c.7146C>A p.F2382L Missense 48/58 - 1
17-29670115-TCTAACTTTAAC-T c.7151_7161del p.S2384Ffs*34 Frameshift 48/58 - 1
17-29670115-CTAACTT-C c.7159_7164del p.N2387_F2388del InFrameDeletion 48/58 - 4
17-29670123-A-G c.7159A>G p.N2387D Missense 48/58 - 1
17-29670126-T-A c.7162T>A p.F2388I Missense 48/58 - 2
17-29670126-CTTT-C c.7162_7164del p.F2388del InFrameDeletion 48/58 - 1
17-29670130-C-T c.7166C>T p.A2389V Missense 48/58 - 1
17-29670135-G-T c.7171G>T p.V2391F Missense 48/58 - 1
17-29670139-G-A c.7175G>A p.G2392E Missense 48/58 - 2
17-29670145-T-G c.7181T>G p.L2394R Missense 48/58 - 1
17-29670144-CT-C c.7184del p.L2395* Frameshift 48/58 - 2
17-29670144-C-CT c.7184dup p.L2395Ffs*27 Frameshift 48/58 - 1
17-29670150-A-T c.7186A>T p.K2396* Nonsense 48/58 - 1
17-29670153-G-A c.7189G>A p.G2397R Missense 48/58 - 2
17-29670153-G-C c.7189G>C p.G2397R Missense 48/58 - 2
17-29670190-C-G c.7189+37C>G - IntronicSNV - 48/57 3
17-29676139-G-GTAAGAATAA c.7193_7194insAGAATAATA p.G2397_Y2398ins* Nonsense 49/58 - 1
17-29676141-A-AAGGG c.7193_7194insAGGG p.Y2398* Nonsense 49/58 - 1
17-29676141-A-ACC c.7194_7195insCC p.R2399Pfs*20 Frameshift 49/58 - 1
17-29676143-CAGGCATCCTTCACCTGCTATTGTTG-C c.7195_7219del p.R2399Qfs*11 Frameshift 49/58 - 1
17-29676142-C-CAGGG c.7197_7198insGAGG p.H2400Efs*23 Frameshift 49/58 - 1
17-29676146-C-G c.7198C>G p.H2400D Missense 49/58 - 1
17-29676150-CCT-C c.7202_7203del p.P2401Lfs*20 Frameshift 49/58 - 1
17-29676150-C-T c.7202C>T p.P2401L Missense 49/58 - 1
17-29676152-TCA-T c.7206_7207del p.P2403Cfs*18 Frameshift 49/58 - 1
17-29676164-GTT-ATG c.7216_7218delinsATG p.V2406M Missense 49/58 - 1
17-29676173-A-C c.7225A>C p.T2409P Missense 49/58 - 1
17-29676184-TTTACATACACTACTAAC-T c.7238_7254del p.L2413Sfs*3 Frameshift 49/58 - 1
17-29676188-C-T c.7240C>T p.H2414Y Missense 49/58 - 1
17-29676191-A-T c.7243A>T p.T2415S Missense 49/58 - 1
17-29676195-T-C c.7247T>C p.L2416P Missense 49/58 - 1
17-29676195-T-G c.7247T>G p.L2416R Missense 49/58 - 1
17-29676201-C-T c.7253C>T p.T2418I Missense 49/58 - 1
17-29676203-C-A c.7255C>A p.L2419M Missense 49/58 - 1
17-29676200-ACT-A c.7255_7256del p.L2419Gfs*2 Frameshift 49/58 - 1
17-29676211-CAA-C c.7265_7266del p.K2422Tfs*5 Frameshift 49/58 - 1
17-29676215-C-CA c.7268dup p.H2423Qfs*5 Frameshift 49/58 - 1
17-29676213-AAC-A c.7269_7270del p.H2423Qfs*4 Frameshift 49/58 - 2
17-29676223-T-G c.7275T>G p.N2425K Missense 49/58 - 1
17-29676227-G-C c.7279G>C p.D2427H Missense 49/58 - 1
17-29676236-G-T c.7288G>T p.E2430* Nonsense 49/58 - 1
17-29676243-A-G c.7295A>G p.N2432S Missense 49/58 - 1
17-29676246-C-T c.7298C>T p.T2433I Missense 49/58 - 1
17-29676248-C-T c.7300C>T p.Q2434* Nonsense 49/58 - 2
17-29676250-G-T c.7302G>T p.Q2434H Missense 49/58 - 1
17-29676250-G-C c.7302G>C p.Q2434H Missense 49/58 - 1
17-29676248-CAG-C c.7303_7304del p.S2435Rfs*12 Frameshift 49/58 - 1
17-29676251-A-T c.7303A>T p.S2435C Missense 49/58 - 1
17-29676254-G-A c.7306G>A p.V2436M Missense 49/58 - 1
17-29676257-G-T c.7309G>T p.A2437S Missense 49/58 - 2
17-29676263-T-G c.7315T>G p.L2439V Missense 49/58 - 1
17-29676268-A-AC c.7320_7321insC p.A2441Rfs*7 SpliceDonorInsertion 49/58 - 1
17-29676267-C-CA c.7320dup p.A2441Sfs*7 SpliceDonorInsertion 49/58 - 1
17-29676268-A-AT c.7320_7321insT p.A2441Cfs*7 SpliceDonorInsertion 49/58 - 1
17-29676269-G-T c.7321G>T p.A2441S Missense 49/58 - 1
17-29676271-T-A c.7321+2T>A - IntronicSNV - 49/57 1
17-29677184-C-T c.7322-17C>T - IntronicSNV - 49/57 1
17-29677187-C-T c.7322-14C>T - IntronicSNV - 49/57 1
17-29677201-CT-C c.7325del p.L2442Yfs*14 Frameshift 50/58 - 1
17-29677211-A-C c.7332A>C p.T2444= Synonymous 50/58 - 1
17-29677211-A-G c.7332A>G p.T2444= Synonymous 50/58 - 1
17-29677211-A-T c.7332A>T p.T2444= Synonymous 50/58 - 1
17-29677212-G-A c.7333G>A p.V2445M Missense 50/58 - 1
17-29677216-C-A c.7337C>A p.S2446Y Missense 50/58 - 1
17-29677217-TGAA-T c.7343_7345del p.E2448del InFrameDeletion 50/58 - 1
17-29677225-T-A c.7346T>A p.V2449D Missense 50/58 - 1
17-29677227-C-T c.7348C>T p.R2450* Nonsense 50/58 - 21
17-29677228-G-A c.7349G>A p.R2450Q Missense 50/58 - 1
17-29677233-C-T c.7354C>T p.R2452C Missense 50/58 - 3
17-29677234-G-T c.7355G>T p.R2452L Missense 50/58 - 1
17-29677234-G-A c.7355G>A p.R2452H Missense 50/58 - 1
17-29677263-TC-T c.7384del p.L2462Ffs*27 Frameshift 50/58 - 1
17-29677274-T-G c.7395T>G p.D2465E Missense 50/58 - 1
17-29677274-T-A c.7395T>A p.D2465E Missense 50/58 - 2
17-29677274-ATATTTCAATG-A c.7395_7404del p.D2465Efs*21 Frameshift 50/58 - 2
17-29677284-G-A c.7405G>A p.E2469K Missense 50/58 - 1
17-29677284-G-T c.7405G>T p.E2469* Nonsense 50/58 - 1
17-29677288-A-T c.7409A>T p.N2470I Missense 50/58 - 1
17-29677284-GA-G c.7409del p.N2470Mfs*19 Frameshift 50/58 - 1
17-29677293-C-G c.7414C>G p.P2472A Missense 50/58 - 1
17-29677302-A-G c.7423A>G p.T2475A Missense 50/58 - 1
17-29677306-A-T c.7427A>T p.Y2476F Missense 50/58 - 1
17-29677307-T-A c.7428T>A p.Y2476* Nonsense 50/58 - 1
17-29677307-T-G c.7428T>G p.Y2476* Nonsense 50/58 - 1
17-29677317-C-A c.7438C>A p.H2480N Missense 50/58 - 2
17-29677323-G-T c.7444G>T p.D2482Y Missense 50/58 - 1
17-29677326-C-CA c.7447_7448insA p.P2483Hfs*4 Frameshift 50/58 - 1
17-29677327-CCTTCCTATAG-C c.7448_7457del p.P2483Rfs*3 SpliceDonorDeletion 50/58 - 1
17-29677328-CTTCCTATAGGTAAGTGGATTTACTCTCCTATAATTACATAATCATAATCAAGTTTCAAT-C c.7451_7457+52del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 50/58 50/57 1
17-29677335-A-G c.7456A>G p.R2486G Missense 50/58 - 1
17-29677336-G-T c.7457G>T p.R2486M Missense 50/58 - 1
17-29677337-G-A c.7457+1G>A - IntronicSNV - 50/57 2
17-29679246-G-A c.7458-29G>A - IntronicSNV - 50/57 2
17-29679246-G-C c.7458-29G>C - IntronicSNV - 50/57 2
17-29679284-G-GT c.7467_7468insT p.E2490* Nonsense 51/58 - 1
17-29679289-C-T c.7472C>T p.T2491I Missense 51/58 - 1
17-29679291-C-T c.7474C>T p.Q2492* Nonsense 51/58 - 2
17-29679294-C-T c.7477C>T p.P2493S Missense 51/58 - 1
17-29679298-G-A c.7481G>A p.W2494* Nonsense 51/58 - 3
17-29679299-G-A c.7482G>A p.W2494* Nonsense 51/58 - 4
17-29679301-C-T c.7484C>T p.S2495F Missense 51/58 - 1
17-29679304-C-T c.7487C>T p.S2496F Missense 51/58 - 1
17-29679304-C-G c.7487C>G p.S2496C Missense 51/58 - 1
17-29679312-G-A c.7495G>A p.G2499S Missense 51/58 - 1
17-29679313-G-T c.7496G>T p.G2499V Missense 51/58 - 1
17-29679316-C-T c.7499C>T p.S2500F Missense 51/58 - 1
17-29679318-G-T c.7501G>T p.E2501* Nonsense 51/58 - 2
17-29679328-TTGCAGCCACC-T c.7513_7522del p.A2505Ifs*15 Frameshift 51/58 - 1
17-29679335-C-T c.7518C>T p.A2506= Synonymous 51/58 - 1
17-29679342-C-T c.7525C>T p.P2509S Missense 51/58 - 1
17-29679348-G-C c.7531G>C p.V2511L Missense 51/58 - 1
17-29679348-G-A c.7531G>A p.V2511I Missense 51/58 - 1
17-29679352-G-T c.7535G>T p.G2512V Missense 51/58 - 1
17-29679356-G-C c.7539G>C p.Q2513H Missense 51/58 - 1
17-29679366-C-T c.7549C>T p.R2517* Nonsense 51/58 - 10
17-29679367-G-C c.7550G>C p.R2517P Missense 51/58 - 1
17-29679369-G-T c.7552G>T p.A2518S Missense 51/58 - 1
17-29679370-C-T c.7553C>T p.A2518V Missense 51/58 - 1
17-29679379-C-T c.7562C>T p.S2521F Missense 51/58 - 2
17-29679391-A-C c.7574A>C p.D2525A Missense 51/58 - 1
17-29679401-A-G c.7584A>G p.Q2528= Synonymous 51/58 - 1
17-29679408-C-T c.7591C>T p.Q2531* Nonsense 51/58 - 1
17-29679412-C-T c.7595C>T p.A2532V Missense 51/58 - 6
17-29679417-CACTAAGAAGTTGCTTGGTTAGTTTATCTAAATTATGTAGATTTTTTTTATTATTTAAAA-C c.7601_7615+44del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 51/58 51/57 2
17-29679420-A-T c.7603A>T p.K2535* Nonsense 51/58 - 2
17-29679422-G-C c.7605G>C p.K2535N Missense 51/58 - 1
17-29679422-G-T c.7605G>T p.K2535N Missense 51/58 - 1
17-29679432-G-T c.7615G>T p.G2539* Nonsense 51/58 - 1
17-29679431-TG-T c.7615+1del - IntronicDeletion - 51/57 1
17-29679861-G-A c.7615+429G>A - IntronicSNV - 51/57 1
17-29679861-G-T c.7615+429G>T - IntronicSNV - 51/57 1
17-29681245-A-G c.7615+1813A>G - IntronicSNV - 51/57 2
17-29683480-ACA-TGT c.7618_7620inv p.T2540C Missense 52/58 - 1
17-29683481-C-G c.7619C>G p.T2540R Missense 52/58 - 1
17-29683507-ATC-A c.7645_7646del p.S2549Rfs*6 Frameshift 52/58 - 1
17-29683508-C-G c.7646C>G p.S2549* Nonsense 52/58 - 3
17-29683508-C-A c.7646C>A p.S2549* Nonsense 52/58 - 2
17-29683508-C-T c.7646C>T p.S2549L Missense 52/58 - 1
17-29683517-AAGGCT-A c.7655_7659del p.K2552Tfs*2 Frameshift 52/58 - 2
17-29683518-G-C c.7656G>C p.K2552N Missense 52/58 - 1
17-29683518-G-T c.7656G>T p.K2552N Missense 52/58 - 1
17-29683523-C-T c.7661C>T p.P2554L Missense 52/58 - 2
17-29683544-C-A c.7682C>A p.S2561* Nonsense 52/58 - 1
17-29683545-AG-A c.7686del p.I2563Sfs*7 Frameshift 52/58 - 2
17-29683551-C-A c.7689C>A p.I2563= Synonymous 52/58 - 1
17-29683551-C-T c.7689C>T p.I2563= Synonymous 52/58 - 1
17-29683556-C-G c.7694C>G p.T2565R Missense 52/58 - 1
17-29683559-C-T c.7697C>T p.P2566L Missense 52/58 - 1
17-29683561-C-T c.7699C>T p.P2567S Missense 52/58 - 1
17-29683562-C-G c.7700C>G p.P2567R Missense 52/58 - 1
17-29683562-C-T c.7700C>T p.P2567L Missense 52/58 - 1
17-29683562-C-A c.7700C>A p.P2567H Missense 52/58 - 1
17-29683557-AC-A c.7701del p.M2569* Frameshift 52/58 - 1
17-29683563-CA-C c.7705del p.M2569* Frameshift 52/58 - 1
17-29683579-G-T c.7717G>T p.A2573S Missense 52/58 - 1
17-29683588-G-A c.7726G>A p.D2576N Missense 52/58 - 1
17-29683594-G-T c.7732G>T p.E2578* Nonsense 52/58 - 1
17-29683987-G-A c.7748G>A p.R2583K Missense 53/58 - 2
17-29683996-C-A c.7757C>A p.S2586* Nonsense 53/58 - 1
17-29683996-C-G c.7757C>G p.S2586* Nonsense 53/58 - 1
17-29683999-C-T c.7760C>T p.S2587L Missense 53/58 - 2
17-29683999-C-G c.7760C>G p.S2587* Nonsense 53/58 - 1
17-29684004-C-T c.7765C>T p.Q2589* Nonsense 53/58 - 2
17-29684013-ACAT-A c.7774_7776del p.H2592del InFrameDeletion 53/58 - 1
17-29684019-C-T c.7780C>T p.R2594C Missense 53/58 - 1
17-29684020-G-C c.7781G>C p.R2594P Missense 53/58 - 2
17-29684020-G-A c.7781G>A p.R2594H Missense 53/58 - 1
17-29684020-G-T c.7781G>T p.R2594L Missense 53/58 - 1
17-29684020-G-GT c.7782dup p.K2595* Nonsense 53/58 - 1
17-29684021-TAA-T c.7784_7785del p.K2595Sfs*5 Frameshift 53/58 - 1
17-29684029-C-T c.7790C>T p.S2597L Missense 53/58 - 1