NF1 neurofibromin 1

Canonical transcript: NM_000267

1392 unique variant annotations were identified in 498 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
17-29422330-G-A c.3G>A p.Met1? Missense 1/57 - 1
17-29422349-GG-G c.22del p.Glu8Asnfs*16 Frameshift 1/57 - 1
17-29422353-G-A c.26G>A p.Trp9* Nonsense 1/57 - 1
17-29422354-G-A c.27G>A p.Trp9* Nonsense 1/57 - 1
17-29422358-CCAG-C c.31_33del p.Gln11del InFrameDeletion 1/57 - 1
17-29422363-C-T c.36C>T p.Ala12Ala Synonymous 1/57 - 1
17-29422363-C-A c.36C>A p.Ala12Ala Synonymous 1/57 - 1
17-29422363-C-G c.36C>G p.Ala12Ala Synonymous 1/57 - 1
17-29422367-G-A c.40G>A p.Val14Ile Missense 1/57 - 2
17-29422370-A-T c.43A>T p.Ser15Cys Missense 1/57 - 2
17-29422370-A-G c.43A>G p.Ser15Gly Missense 1/57 - 2
17-29422370-AG-TT c.43_44delinsTT p.Ser15Phe Missense 1/57 - 2
17-29422370-AG-GC c.43_44delinsGC p.Ser15Ala Missense 1/57 - 4
17-29422370-AG-GA c.43_44delinsGA p.Ser15Asp Missense 1/57 - 1
17-29422370-AG-CA c.43_44delinsCA p.Ser15His Missense 1/57 - 1
17-29422370-AGC-GAG c.43_45delinsGAG p.Ser15Glu Missense 1/57 - 1
17-29422371-GC-AG c.44_45delinsAG p.Ser15Lys Missense 1/57 - 1
17-29422373-C-T c.46C>T p.Arg16Cys Missense 1/57 - 1
17-29422382-G-T c.55G>T p.Glu19* Nonsense 1/57 - 2
17-29422382-CGAG-C c.55_57del p.Glu19del InFrameDeletion 1/57 - 1
17-29422383-A-C c.56A>C p.Glu19Ala Missense 1/57 - 3
17-29422861-A-T c.60+474A>T - IntronicSNV - 1/56 1
17-29423989-A-G c.60+1602A>G - IntronicSNV - 1/56 1
17-29443614-A-G c.60+21227A>G - IntronicSNV - 1/56 1
17-29443614-A-T c.60+21227A>T - IntronicSNV - 1/56 1
17-29466722-G-A c.61-16279G>A - IntronicSNV - 1/56 1
17-29480295-C-T c.61-2706C>T - IntronicSNV - 1/56 1
17-29482381-G-A c.61-620G>A - IntronicSNV - 1/56 1
17-29482458-C-T c.61-543C>T - IntronicSNV - 1/56 1
17-29482878-G-A c.61-123G>A - IntronicSNV - 1/56 1
17-29482999-A-T c.61-2A>T - IntronicSNV - 1/56 1
17-29483000-G-C c.61-1G>C - IntronicSNV - 1/56 2
17-29483001-GCTTCCAATAAAAACAGGACAGCAGAACACACATACCAAAGTCAGTACTGAGCACAACAA-G c.61_119del p.Leu21Glyfs*26 InFrameDeletion 2/57 - 1
17-29483002-T-C c.62T>C p.Leu21Pro Missense 2/57 - 1
17-29483002-T-G c.62T>G p.Leu21Arg Missense 2/57 - 1
17-29483008-T-A c.68T>A p.Ile23Lys Missense 2/57 - 1
17-29483017-G-C c.77G>C p.Gly26Ala Missense 2/57 - 1
17-29483021-G-T c.81G>T p.Gln27His Missense 2/57 - 1
17-29483022-C-T c.82C>T p.Gln28* Nonsense 2/57 - 1
17-29483022-CAG-GAC c.82_84delinsGAC p.Gln28Asp Missense 2/57 - 2
17-29483024-G-GG c.84dup p.Asn29Glufs*9 Frameshift 2/57 - 1
17-29483038-AAAGTCAG-A c.98_104del p.Lys33Ilefs*9 Frameshift 2/57 - 1
17-29483042-TCAGTACTGAGCACAACAAGGAATGTCTAATCAATATTTCCAAATACAAGTTTTCTTTGG-T c.102_160del p.Ser35Tyrfs*12 InFrameDeletion 2/57 - 1
17-29483055-A-C c.115A>C p.Asn39His Missense 2/57 - 1
17-29483059-AA-A c.119del p.Lys40Argfs*4 Frameshift 2/57 - 1
17-29483062-A-T c.122A>T p.Glu41Val Missense 2/57 - 1
17-29483064-T-A c.124T>A p.Cys42Ser Missense 2/57 - 1
17-29483065-G-C c.125G>C p.Cys42Ser Missense 2/57 - 1
17-29483065-G-T c.125G>T p.Cys42Phe Missense 2/57 - 1
17-29483065-G-A c.125G>A p.Cys42Tyr Missense 2/57 - 1
17-29483068-T-C c.128T>C p.Leu43Pro Missense 2/57 - 1
17-29483073-CAATATTTC-C c.133_140del p.Asn45Glnfs*19 Frameshift 2/57 - 1
17-29483075-T-C c.135T>C p.Asn45Asn Synonymous 2/57 - 1
17-29483079-T-C c.139T>C p.Ser47Pro Missense 2/57 - 1
17-29483083-A-G c.143A>G p.Lys48Arg Missense 2/57 - 1
17-29483087-C-G c.147C>G p.Tyr49* Nonsense 2/57 - 1
17-29483095-C-T c.155C>T p.Ser52Phe Missense 2/57 - 1
17-29483097-T-C c.157T>C p.Leu53Leu Synonymous 2/57 - 1
17-29483099-G-A c.159G>A p.Leu53Leu Synonymous 2/57 - 1
17-29483108-C-T c.168C>T p.Ser56Ser Synonymous 2/57 - 2
17-29483119-ACTA-A c.179_181del p.Thr60del InFrameDeletion 2/57 - 1
17-29483119-C-T c.179C>T p.Thr60Ile Missense 2/57 - 1
17-29483125-TT-T c.185del p.Leu62* Frameshift 2/57 - 1
17-29483127-A-T c.187A>T p.Lys63* Nonsense 2/57 - 1
17-29483128-A-AT c.188_189insT p.Lys63Asnfs*4 Frameshift 2/57 - 1
17-29483130-AA-GC c.190_191delinsGC p.Asn64Ala Missense 2/57 - 1
17-29483142-TATG-T c.202_204del p.Met68del InFrameDeletion 2/57 - 1
17-29483142-A-T c.202A>T p.Met68Leu Missense 2/57 - 1
17-29483145-G-T c.204+1G>T - IntronicSNV - 2/56 2
17-29483145-G-A c.204+1G>A - IntronicSNV - 2/56 2
17-29486026-A-G c.205-2A>G - IntronicSNV - 2/56 1
17-29486028-GAGAATATTTGGAGAAGCTGCTGAAAAAAATTTATATCTCTCTCAGTTGATTATATTGGA-G c.205_263del p.Arg69Tyrfs*18 InFrameDeletion 3/57 - 1
17-29486047-C-A c.224C>A p.Ala75Asp Missense 3/57 - 1
17-29486049-G-A c.226G>A p.Glu76Lys Missense 3/57 - 2
17-29486049-G-C c.226G>C p.Glu76Gln Missense 3/57 - 1
17-29486049-TGAAAA-T c.226_230del p.Glu76Lysfs*29 Frameshift 3/57 - 1
17-29486050-A-AG c.227_228insG p.Asn78Lysfs*29 Frameshift 3/57 - 1
17-29486055-AAATTTATATCTCT-A c.232_244del p.Asn78Leufs*3 Frameshift 3/57 - 1
17-29486060-A-C c.237A>C p.Leu79Phe Missense 3/57 - 1
17-29486060-A-T c.237A>T p.Leu79Phe Missense 3/57 - 1
17-29486071-A-T c.248A>T p.Gln83Leu Missense 3/57 - 1
17-29486084-G-C c.261G>C p.Leu87Phe Missense 3/57 - 1
17-29486084-G-T c.261G>T p.Leu87Phe Missense 3/57 - 1
17-29486087-ATACA-A c.264_267del p.Thr89Trpfs*13 Frameshift 3/57 - 1
17-29486088-AC-GG c.265_266delinsGG p.Thr89Gly Missense 3/57 - 1
17-29486088-A-AA c.265dup p.Thr89Asnfs*18 Frameshift 3/57 - 1
17-29486092-T-G c.269T>G p.Leu90Arg Missense 3/57 - 1
17-29486094-G-A c.271G>A p.Glu91Lys Missense 3/57 - 1
17-29486100-T-C c.277T>C p.Cys93Arg Missense 3/57 - 1
17-29486100-TG-GA c.277_278delinsGA p.Cys93Asp Missense 3/57 - 1
17-29486102-T-A c.279T>A p.Cys93* Nonsense 3/57 - 1
17-29486104-T-C c.281T>C p.Leu94Pro Missense 3/57 - 1
17-29486106-GC-TG c.283_284delinsTG p.Ala95Cys Missense 3/57 - 1
17-29486106-GC-TT c.283_284delinsTT p.Ala95Phe Missense 3/57 - 1
17-29486106-G-GG c.283dup p.Ala95Glyfs*12 Frameshift 3/57 - 1
17-29486110-G-A c.287G>A p.Gly96Glu Missense 3/57 - 1
17-29486112-G-T c.288+1G>T - IntronicSNV - 3/56 2
17-29486113-T-G c.288+2T>G - IntronicSNV - 3/56 1
17-29487248-C-T c.288+1137C>T - IntronicSNV - 3/56 2
17-29488136-T-G c.288+2025T>G - IntronicSNV - 3/56 2
17-29490202-A-G c.289-2A>G - IntronicSNV - 3/56 1
17-29490204-C-T c.289C>T p.Gln97* Nonsense 4/57 - 1
17-29490206-A-G c.291A>G p.Gln97Gln Synonymous 4/57 - 1
17-29490211-AA-A c.296del p.Lys99Argfs*4 Frameshift 4/57 - 1
17-29490226-T-G c.311T>G p.Leu104* Nonsense 4/57 - 4
17-29490239-G-A c.324G>A p.Met108Ile Missense 4/57 - 1
17-29490239-G-T c.324G>T p.Met108Ile Missense 4/57 - 1
17-29490239-G-C c.324G>C p.Met108Ile Missense 4/57 - 1
17-29490248-A-T c.333A>T p.Lys111Asn Missense 4/57 - 1
17-29490248-A-C c.333A>C p.Lys111Asn Missense 4/57 - 1
17-29490253-T-C c.338T>C p.Leu113Ser Missense 4/57 - 1
17-29490255-CT-TA c.340_341delinsTA p.Leu114* Nonsense 4/57 - 1
17-29490265-T-A c.350T>A p.Ile117Asn Missense 4/57 - 1
17-29490268-G-C c.353G>C p.Cys118Ser Missense 4/57 - 1
17-29490267-T-A c.352T>A p.Cys118Ser Missense 4/57 - 1
17-29490273-TT-GC c.358_359delinsGC p.Phe120Ala Missense 4/57 - 1
17-29490276-C-G c.361C>G p.Leu121Val Missense 4/57 - 1
17-29490279-TC-T c.364del p.His122Thrfs*43 Frameshift 4/57 - 1
17-29490287-T-TT c.372dup p.Arg125Serfs*2 Frameshift 4/57 - 1
17-29490288-C-CATGTGT c.373_374insATGTGT p.Arg125delinsHisValCys MultiAAMissense 4/57 - 1
17-29490290-GT-G c.375del p.Glu126Lysfs*39 Frameshift 4/57 - 1
17-29490291-G-T c.376G>T p.Glu126* Nonsense 4/57 - 1
17-29490293-A-G c.378A>G p.Glu126Glu Synonymous 4/57 - 1
17-29490310-C-G c.395C>G p.Ala132Gly Missense 4/57 - 1
17-29490311-CTGAACTTC-C c.396_403del p.Leu134Phefs*19 Frameshift 4/57 - 1
17-29490318-C-CC c.403dup p.Arg135Profs*21 Frameshift 4/57 - 1
17-29490318-C-T c.403C>T p.Arg135Trp Missense 4/57 - 2
17-29490325-C-G c.410C>G p.Ser137Cys Missense 4/57 - 1
17-29490327-G-C c.412G>C p.Ala138Pro Missense 4/57 - 1
17-29490330-T-G c.415T>G p.Ser139Ala Missense 4/57 - 1
17-29490330-TCT-GAG c.415_417delinsGAG p.Ser139Glu Missense 4/57 - 1
17-29490334-G-A c.419G>A p.Gly140Glu Missense 4/57 - 1
17-29490349-CTCAG-C c.434_437del p.Leu145Profs*19 Frameshift 4/57 - 1
17-29490354-T-C c.439T>C p.Cys147Arg Missense 4/57 - 1
17-29490354-T-G c.439T>G p.Cys147Gly Missense 4/57 - 1
17-29490356-C-A c.441C>A p.Cys147* Nonsense 4/57 - 1
17-29490366-A-C c.451A>C p.Asn151His Missense 4/57 - 1
17-29490381-C-G c.466C>G p.Arg156Gly Missense 4/57 - 1
17-29490384-A-G c.469A>G p.Ile157Val Missense 4/57 - 1
17-29490394-G-T c.479G>T p.Arg160Met Missense 4/57 - 3
17-29490394-G-C c.479G>C p.Arg160Thr Missense 4/57 - 2
17-29494693-C-G c.480-2216C>G - IntronicSNV - 4/56 1
17-29494693-C-A c.480-2216C>A - IntronicSNV - 4/56 1
17-29495895-T-G c.480-1014T>G - IntronicSNV - 4/56 2
17-29496343-C-A c.480-566C>A - IntronicSNV - 4/56 1
17-29496907-A-G c.480-2A>G - IntronicSNV - 4/56 2
17-29496908-G-A c.480-1G>A - IntronicSNV - 4/56 2
17-29496908-G-C c.480-1G>C - IntronicSNV - 4/56 1
17-29496909-G-GA c.480_481insA p.Leu161Ilefs*13 SpliceAcceptorInsertion 5/57 - 1
17-29496909-G-GG c.480dup p.Leu161Valfs*13 SpliceAcceptorInsertion 5/57 - 1
17-29496911-T-G c.482T>G p.Leu161* Nonsense 5/57 - 3
17-29496916-G-T c.487G>T p.Glu163* Nonsense 5/57 - 1
17-29496920-T-A c.491T>A p.Leu164* Nonsense 5/57 - 1
17-29496928-TTGTT-T c.499_502del p.Cys167Glnfs*10 Frameshift 5/57 - 3
17-29496929-G-GG c.500dup p.Cys167Trpfs*7 Frameshift 5/57 - 1
17-29496930-T-A c.501T>A p.Cys167* Nonsense 5/57 - 2
17-29496932-C-T c.503C>T p.Ser168Leu Missense 5/57 - 1
17-29496932-C-G c.503C>G p.Ser168* Nonsense 5/57 - 1
17-29496932-C-A c.503C>A p.Ser168* Nonsense 5/57 - 1
17-29496934-AGAAGACAATGTTGATGTTCA-A c.505_524del p.Glu169* Frameshift 5/57 - 1
17-29496936-AAGACAATGTTGATGTTCATGA-A c.507_527del p.Glu169_His175del InFrameDeletion 5/57 - 1
17-29496949-G-A c.520G>A p.Val174Ile Missense 5/57 - 1
17-29496957-T-A c.528T>A p.Asp176Glu Missense 5/57 - 11
17-29496961-G-T c.532G>T p.Glu178* Nonsense 5/57 - 2
17-29496961-AGAATTGTTACAGTATATCAATGTGGAT-A c.532_558del p.Glu178_Asp186del InFrameDeletion 5/57 - 1
17-29496965-TTGTT-T c.536_539del p.Leu179Tyrfs*11 Frameshift 5/57 - 1
17-29496968-TT-T c.539del p.Leu180Tyrfs*11 Frameshift 5/57 - 1
17-29496968-T-G c.539T>G p.Leu180* Nonsense 5/57 - 1
17-29496970-C-CC c.541dup p.Gln181Profs*20 Frameshift 5/57 - 2
17-29496970-C-T c.541C>T p.Gln181* Nonsense 5/57 - 1
17-29496974-A-G c.545A>G p.Tyr182Cys Missense 5/57 - 1
17-29496980-A-C c.551A>C p.Asn184Thr Missense 5/57 - 1
17-29496986-A-T c.557A>T p.Asp186Val Missense 5/57 - 2
17-29496991-G-T c.562G>T p.Ala188Ser Missense 5/57 - 1
17-29496994-A-G c.565A>G p.Lys189Glu Missense 5/57 - 1
17-29496994-A-C c.565A>C p.Lys189Gln Missense 5/57 - 1
17-29497003-C-T c.574C>T p.Arg192* Nonsense 5/57 - 11
17-29497004-G-A c.575G>A p.Arg192Gln Missense 5/57 - 3
17-29497010-T-C c.581T>C p.Leu194Pro Missense 5/57 - 2
17-29497010-T-G c.581T>G p.Leu194Arg Missense 5/57 - 2
17-29497015-G-T c.586G>T p.Glu196* Nonsense 5/57 - 2
17-29497017-T-G c.586+2T>G - IntronicSNV - 5/56 1
17-29507762-A-C c.587-678A>C - IntronicSNV - 5/56 1
17-29508429-TGTT-T c.587-11_587-9del - IntronicDeletion - 5/56 1
17-29508434-TTT-T c.587-6_587-5del - IntronicDeletion - 5/56 1
17-29508435-TT-T c.587-5del - IntronicDeletion - 5/56 1
17-29508456-TTAAAGCCCTAAAGAAGGTT-T c.603_621del p.Phe201Leufs*4 Frameshift 6/57 - 1
17-29508478-C-T c.625C>T p.Gln209* Nonsense 6/57 - 1
17-29508479-A-C c.626A>C p.Gln209Pro Missense 6/57 - 2
17-29508479-A-T c.626A>T p.Gln209Leu Missense 6/57 - 1
17-29508480-G-C c.627G>C p.Gln209His Missense 6/57 - 1
17-29508480-G-T c.627G>T p.Gln209His Missense 6/57 - 1
17-29508488-GTT-G c.635_636del p.Val212Aspfs*3 Frameshift 6/57 - 1
17-29508496-TA-T c.643del p.Ser215Alafs*10 Frameshift 6/57 - 1
17-29508499-C-T c.646C>T p.Leu216Leu Synonymous 6/57 - 1
17-29508500-T-C c.647T>C p.Leu216Pro Missense 6/57 - 1
17-29508502-G-GG c.649dup p.Glu217Glyfs*14 Frameshift 6/57 - 1
17-29508711-GTGGTTCTTTATTT-G c.655-17_655-5del - IntronicDeletion - 6/56 1
17-29508736-G-T c.663G>T p.Trp221Cys Missense 7/57 - 1
17-29508740-T-C c.667T>C p.Trp223Arg Missense 7/57 - 2
17-29508740-T-A c.667T>A p.Trp223Arg Missense 7/57 - 2
17-29508746-G-T c.673G>T p.Glu225* Nonsense 7/57 - 1
17-29508755-C-T c.682C>T p.Pro228Ser Missense 7/57 - 1
17-29508759-A-C c.686A>C p.Asp229Ala Missense 7/57 - 1
17-29508764-TTT-ATG c.691_693delinsATG p.Phe231Met Missense 7/57 - 1
17-29508766-TT-T c.693del p.Phe231Leufs*50 Frameshift 7/57 - 1
17-29508775-G-C c.702G>C p.Leu234Leu Synonymous 7/57 - 1
17-29508775-G-A c.702G>A p.Leu234Leu Synonymous 7/57 - 4
17-29508775-G-T c.702G>T p.Leu234Leu Synonymous 7/57 - 3
17-29508773-C-T c.700C>T p.Leu234Leu Synonymous 7/57 - 1
17-29508788-C-T c.715C>T p.Gln239* Nonsense 7/57 - 1
17-29508789-A-G c.716A>G p.Gln239Arg Missense 7/57 - 1
17-29508802-T-C c.729T>C p.Ala243Ala Synonymous 7/57 - 1
17-29508803-G-A c.730G>A p.Glu244Lys Missense 7/57 - 1
17-29509525-G-C c.731-1G>C - IntronicSNV - 7/56 1
17-29509527-AATGTGCA-A c.732_738del p.Cys245Lysfs*34 SpliceAcceptorDeletion 8/57 - 1
17-29509529-G-A c.734G>A p.Cys245Tyr Missense 8/57 - 1
17-29509532-C-A c.737C>A p.Ala246Glu Missense 8/57 - 1
17-29509541-T-C c.746T>C p.Leu249Pro Missense 8/57 - 1
17-29509545-TT-T c.750del p.Phe250Leufs*31 Frameshift 8/57 - 1
17-29509553-GTGG-G c.758_760del p.Val253del InFrameDeletion 8/57 - 1
17-29509579-C-T c.784C>T p.Arg262Cys Missense 8/57 - 3
17-29509581-T-TTT c.786_787insTT p.Lys263Leufs*19 Frameshift 8/57 - 1
17-29509596-G-A c.801G>A p.Trp267* Nonsense 8/57 - 2
17-29509596-G-GGA c.801_802insGA p.Pro268Aspfs*14 Frameshift 8/57 - 1
17-29509603-C-T c.808C>T p.Gln270* Nonsense 8/57 - 2
17-29509613-CT-C c.818del p.Leu273Profs*8 Frameshift 8/57 - 1
17-29509613-T-C c.818T>C p.Leu273Pro Missense 8/57 - 1
17-29509615-C-T c.820C>T p.Leu274Phe Missense 8/57 - 1
17-29509616-T-G c.821T>G p.Leu274Arg Missense 8/57 - 1
17-29509633-AA-A c.838del p.Ile280* Frameshift 8/57 - 1
17-29509639-C-T c.844C>T p.Gln282* Nonsense 8/57 - 2
17-29509641-G-A c.846G>A p.Gln282Gln Synonymous 8/57 - 1
17-29509642-G-T c.847G>T p.Asp283Tyr Missense 8/57 - 1
17-29509648-T-TTC c.853_854insTC p.Ser285Phefs*11 Frameshift 8/57 - 1
17-29509656-C-T c.861C>T p.Asp287Asp Synonymous 8/57 - 1
17-29509657-G-A c.862G>A p.Val288Met Missense 8/57 - 1
17-29509659-G-GC c.864_865insC p.Val289Argfs*2 Frameshift 8/57 - 1
17-29509682-A-G c.887A>G p.Lys296Arg Missense 8/57 - 1
17-29510334-T-A c.888+651T>A - IntronicSNV - 8/56 1
17-29519995-T-C c.889-7445T>C - IntronicSNV - 8/56 1
17-29526742-T-C c.889-698T>C - IntronicSNV - 8/56 1
17-29527430-GAA-G c.889-10_889-9del - IntronicDeletion - 8/56 1
17-29527438-A-G c.889-2A>G - IntronicSNV - 8/56 1
17-29527440-GAAGTTATTTCTGGACAGTCTACGAAAAGCTCTTGCTGGCCATGGAGGAAGTAGGCAGCT-G c.889_947del p.Lys297Aspfs*13 InFrameDeletion 9/57 - 1
17-29527440-A-T c.889A>T p.Lys297* Nonsense 9/57 - 1
17-29527444-T-G c.893T>G p.Leu298* Nonsense 9/57 - 1
17-29527444-T-A c.893T>A p.Leu298* Nonsense 9/57 - 1
17-29527455-A-G c.904A>G p.Ser302Gly Missense 9/57 - 1
17-29527461-C-T c.910C>T p.Arg304* Nonsense 9/57 - 21
17-29527462-G-A c.911G>A p.Arg304Gln Missense 9/57 - 1
17-29527466-AAGCT-A c.915_918del p.Lys305Asnfs*11 Frameshift 9/57 - 1
17-29527470-CTT-TAA c.919_921delinsTAA p.Leu307* Nonsense 9/57 - 1
17-29527483-G-A c.932G>A p.Gly311Glu Missense 9/57 - 1
17-29527494-C-T c.943C>T p.Gln315* Nonsense 9/57 - 2
17-29527496-GC-AA c.945_946delinsAA p.Leu316Met Missense 9/57 - 1
17-29527496-G-C c.945G>C p.Gln315His Missense 9/57 - 1
17-29527496-G-A c.945G>A p.Gln315Gln Synonymous 9/57 - 1
17-29527497-C-A c.946C>A p.Leu316Met Missense 9/57 - 1
17-29527511-T-A c.960T>A p.Ala320Ala Synonymous 9/57 - 1
17-29527517-TT-T c.966del p.Ile322Metfs*54 Frameshift 9/57 - 1
17-29527531-CT-C c.980del p.Leu327Argfs*49 Frameshift 9/57 - 1
17-29527538-A-G c.987A>G p.Lys329Lys Synonymous 9/57 - 1
17-29527539-G-A c.988G>A p.Ala330Thr Missense 9/57 - 1
17-29527539-G-C c.988G>C p.Ala330Pro Missense 9/57 - 1
17-29527548-TA-AT c.997_998delinsAT p.Tyr333Ile Missense 9/57 - 1
17-29527549-A-AA c.998dup p.Tyr333* Nonsense 9/57 - 1
17-29527556-T-C c.1005T>C p.Asn335Asn Synonymous 9/57 - 1
17-29527557-TG-AC c.1006_1007delinsAC p.Trp336Thr Missense 9/57 - 1
17-29527558-G-A c.1007G>A p.Trp336* Nonsense 9/57 - 4
17-29527560-G-A c.1009G>A p.Glu337Lys Missense 9/57 - 2
17-29527560-G-T c.1009G>T p.Glu337* Nonsense 9/57 - 1
17-29527566-A-T c.1015A>T p.Asn339Tyr Missense 9/57 - 1
17-29527569-CTCT-C c.1018_1020del p.Ser340del InFrameDeletion 9/57 - 1
17-29527570-TCT-T c.1019_1020del p.Ser340Cysfs*12 Frameshift 9/57 - 4
17-29527587-G-A c.1036G>A p.Val346Ile Missense 9/57 - 1
17-29527590-C-G c.1039C>G p.Gln347Glu Missense 9/57 - 1
17-29527590-C-A c.1039C>A p.Gln347Lys Missense 9/57 - 1
17-29527590-C-T c.1039C>T p.Gln347* Nonsense 9/57 - 1
17-29527590-TC-T c.1039del p.Gln347Serfs*29 Frameshift 9/57 - 1
17-29527592-G-T c.1041G>T p.Gln347His Missense 9/57 - 1
17-29527592-G-C c.1041G>C p.Gln347His Missense 9/57 - 1
17-29527595-C-T c.1044C>T p.Ser348Ser Synonymous 9/57 - 1
17-29527612-A-G c.1061A>G p.Lys354Arg Missense 9/57 - 1
17-29527613-G-A c.1062G>A p.Lys354Lys Synonymous 9/57 - 1
17-29527613-G-C c.1062G>C p.Lys354Asn Missense 9/57 - 1
17-29527614-G-A c.1062+1G>A - IntronicSNV - 9/56 2
17-29527615-T-G c.1062+2T>G - IntronicSNV - 9/56 1
17-29528042-G-A c.1063-13G>A - IntronicSNV - 9/56 1
17-29528055-GAACCTGCTTTTTAATCCAAGTAAGCCATTCTCAAGAGGCAGTCAGCCTGCAGATGTGGA-G c.1063_1121del p.Asn355Serfs*4 InFrameDeletion 10/57 - 2
17-29528059-T-C c.1067T>C p.Leu356Pro Missense 10/57 - 1
17-29528061-CT-AC c.1069_1070delinsAC p.Leu357Thr Missense 10/57 - 1
17-29528075-GTAAG-G c.1083_1086del p.Lys362Hisfs*13 Frameshift 10/57 - 1
17-29528087-A-AT c.1095_1096insT p.Arg366* Nonsense 10/57 - 1
17-29528097-C-T c.1105C>T p.Gln369* Nonsense 10/57 - 3
17-29528103-TG-T c.1111del p.Ala371Glnfs*5 Frameshift 10/57 - 1
17-29528107-A-C c.1115A>C p.Asp372Ala Missense 10/57 - 1
17-29528114-ATCTA-A c.1122_1125del p.Asp374Glufs*2 Frameshift 10/57 - 1
17-29528115-CT-TA c.1123_1124delinsTA p.Leu375* Nonsense 10/57 - 1
17-29528127-TG-GC c.1135_1136delinsGC p.Cys379Ala Missense 10/57 - 2
17-29528131-T-G c.1139T>G p.Leu380Arg Missense 10/57 - 1
17-29528131-T-C c.1139T>C p.Leu380Pro Missense 10/57 - 1
17-29528136-T-C c.1144T>C p.Ser382Pro Missense 10/57 - 1
17-29528137-C-T c.1145C>T p.Ser382Phe Missense 10/57 - 1
17-29528141-C-A c.1149C>A p.Cys383* Nonsense 10/57 - 2
17-29528145-CGT-AAG c.1153_1155delinsAAG p.Arg385Lys Missense 10/57 - 1
17-29528146-G-A c.1154G>A p.Arg385His Missense 10/57 - 1
17-29528154-C-A c.1162C>A p.Pro388Thr Missense 10/57 - 1
17-29528158-A-G c.1166A>G p.His389Arg Missense 10/57 - 1
17-29528162-AC-A c.1170del p.Asn390Lysfs*22 Frameshift 10/57 - 1
17-29528169-C-G c.1177C>G p.His393Asp Missense 10/57 - 1
17-29528169-C-A c.1177C>A p.His393Asn Missense 10/57 - 1
17-29528170-A-T c.1178A>T p.His393Leu Missense 10/57 - 2
17-29528171-ACT-A c.1179_1180del p.Phe394* Frameshift 10/57 - 1
17-29528173-TTT-T c.1181_1182del p.Phe394* Frameshift 10/57 - 1
17-29528175-TAAG-T c.1183_1185del p.Lys395del InFrameDeletion 10/57 - 1
17-29528178-G-A c.1185+1G>A - IntronicSNV - 10/56 2
17-29528179-GT-G c.1185+2del - IntronicDeletion - 10/56 1
17-29528343-TCTATTTGCTGTTCTTTTTGGCTTCATTTGTATTACTGAGTATTTTTCTCATAGAAATAA-T c.1186-86_1186-28del - IntronicDeletion - 10/56 1
17-29528438-GC-TG c.1195_1196delinsTG p.Ala399Cys Missense 11/57 - 1
17-29528441-C-T c.1198C>T p.Gln400* Nonsense 11/57 - 2
17-29528450-C-T c.1207C>T p.Pro403Ser Missense 11/57 - 1
17-29528467-T-G c.1224T>G p.Tyr408* Nonsense 11/57 - 1
17-29528467-T-A c.1224T>A p.Tyr408* Nonsense 11/57 - 1
17-29528468-TGTGCTGGTAAATTCACTCCATCGAATCATCACCAATGTAAGTCCAAAAGGTATTGCTAA-T c.1225_1260+23del - SpliceDonorDeletion 11/57 11/56 1
17-29528469-GTG-G c.1226_1227del p.Val409Alafs*19 Frameshift 11/57 - 1
17-29528472-T-A c.1229T>A p.Leu410Gln Missense 11/57 - 1
17-29528480-T-G c.1237T>G p.Ser413Ala Missense 11/57 - 1
17-29528484-T-G c.1241T>G p.Leu414Arg Missense 11/57 - 2
17-29528486-C-CC c.1243dup p.His415Profs*14 Frameshift 11/57 - 1
17-29528489-C-T c.1246C>T p.Arg416* Nonsense 11/57 - 10
17-29528503-T-G c.1260T>G p.Asn420Lys Missense 11/57 - 1
17-29528504-G-A c.1260+1G>A - IntronicSNV - 11/56 1
17-29528505-T-G c.1260+2T>G - IntronicSNV - 11/56 1
17-29528508-G-A c.1260+5G>A - IntronicSNV - 11/56 1
17-29533248-TTTTTCTCTA-T c.1261-10_1261-2del - IntronicDeletion - 11/56 1
17-29533257-G-A c.1261-1G>A - IntronicSNV - 11/56 1
17-29533257-G-C c.1261-1G>C - IntronicSNV - 11/56 1
17-29533271-G-A c.1274G>A p.Trp425* Nonsense 12/57 - 2
17-29533272-G-A c.1275G>A p.Trp425* Nonsense 12/57 - 2
17-29533274-G-A c.1277G>A p.Trp426* Nonsense 12/57 - 1
17-29533277-CC-C c.1280del p.Pro427Leufs*46 Frameshift 12/57 - 1
17-29533280-AAGA-A c.1283_1285del p.Lys428del InFrameDeletion 12/57 - 1
17-29533288-G-T c.1291G>T p.Ala431Ser Missense 12/57 - 1
17-29533303-T-C c.1306T>C p.Ser436Pro Missense 12/57 - 1
17-29533304-C-A c.1307C>A p.Ser436* Nonsense 12/57 - 2
17-29533309-G-T c.1312G>T p.Glu438* Nonsense 12/57 - 1
17-29533315-C-T c.1318C>T p.Arg440* Nonsense 12/57 - 18
17-29533316-G-A c.1319G>A p.Arg440Gln Missense 12/57 - 1
17-29533321-TATGTTTGG-T c.1324_1331del p.Met442* Frameshift 12/57 - 1
17-29533324-T-C c.1327T>C p.Phe443Leu Missense 12/57 - 1
17-29533325-T-G c.1328T>G p.Phe443Cys Missense 12/57 - 1
17-29533326-TT-T c.1329del p.Phe443Leufs*30 Frameshift 12/57 - 1
17-29533337-T-C c.1340T>C p.Leu447Pro Missense 12/57 - 1
17-29533370-CC-C c.1373del p.Pro458Glnfs*15 Frameshift 12/57 - 1
17-29533375-A-AA c.1378dup p.Ile460Asnfs*10 Frameshift 12/57 - 1
17-29533378-C-T c.1381C>T p.Arg461* Nonsense 12/57 - 8
17-29533379-G-A c.1382G>A p.Arg461Gln Missense 12/57 - 1
17-29533388-C-T c.1391C>T p.Pro464Leu Missense 12/57 - 1
17-29533389-G-A c.1392G>A p.Pro464Pro Synonymous 12/57 - 1
17-29533389-G-T c.1392G>T p.Pro464Pro Synonymous 12/57 - 1
17-29537463-C-T c.1393-4006C>T - IntronicSNV - 12/56 1
17-29541437-T-C c.1393-32T>C - IntronicSNV - 12/56 1
17-29541456-TGTTTTGTTTTT-T c.1393-13_1393-3del - IntronicDeletion - 12/56 1
17-29541468-G-T c.1393-1G>T - IntronicSNV - 12/56 1
17-29541468-G-A c.1393-1G>A - IntronicSNV - 12/56 1
17-29541469-GAGTCTTACATTTAAAGAAAAAGTAACAAGCCTTAAATTTAAAGAAAAACCTACAGACCT-G c.1393_1451del p.Ser465Glyfs*6 Unclassified 13/57 - 2
17-29541469-AGT-TGA c.1393_1395delinsTGA p.Ser465* Nonsense 13/57 - 1
17-29541470-G-A c.1394G>A p.Ser465Asn Missense 13/57 - 1
17-29541472-C-T c.1396C>T p.Leu466Phe Missense 13/57 - 1
17-29541476-C-T c.1400C>T p.Thr467Ile Missense 13/57 - 1
17-29541479-T-C c.1403T>C p.Phe468Ser Missense 13/57 - 1
17-29541489-AAGTAACAAGCCTTAAATTTAAAGAAAAA-A c.1413_1440del p.Lys471Asnfs*18 Frameshift 13/57 - 1
17-29541499-C-CC c.1423dup p.Leu475Profs*2 Frameshift 13/57 - 1
17-29541499-CC-C c.1423del p.Lys476Asnfs*22 Frameshift 13/57 - 1
17-29541511-G-T c.1435G>T p.Glu479* Nonsense 13/57 - 1
17-29541520-A-G c.1444A>G p.Thr482Ala Missense 13/57 - 1
17-29541524-A-G c.1448A>G p.Asp483Gly Missense 13/57 - 1
17-29541526-CT-GC c.1450_1451delinsGC p.Leu484Ala Missense 13/57 - 1
17-29541536-G-A c.1460G>A p.Arg487Lys Missense 13/57 - 1
17-29541542-TATAAGTATCTTCTCTTGTCCATGGTGAAACTAATTCATGCAGATCCAAAGCTCTTGCTT-T c.1466_1524del p.Tyr489Leufs*2 SpliceDonorDeletion 13/57 - 1
17-29541542-A-G c.1466A>G p.Tyr489Cys Missense 13/57 - 13
17-29541543-T-G c.1467T>G p.Tyr489* Nonsense 13/57 - 4
17-29541548-A-G c.1472A>G p.Tyr491Cys Missense 13/57 - 1
17-29541563-T-G c.1487T>G p.Met496Arg Missense 13/57 - 1
17-29541574-A-G c.1498A>G p.Ile500Val Missense 13/57 - 1
17-29541575-T-G c.1499T>G p.Ile500Ser Missense 13/57 - 1
17-29541577-CAT-AAGAAC c.1501_1503delinsAAGAAC p.His501delinsLysAsn MultiAAMissense 13/57 - 1
17-29541577-TC-T c.1501del p.His501Metfs*25 Frameshift 13/57 - 1
17-29541589-A-G c.1513A>G p.Lys505Glu Missense 13/57 - 1
17-29541599-T-A c.1523T>A p.Leu508His Missense 13/57 - 1
17-29541601-TTGT-T c.1525_1527del p.Cys509del InFrameDeletion 13/57 - 2
17-29546023-GAATCCAAGAAAACAGGGGCCCGAAACCCAAGGCAGTACAGCAGAATTAATTACAGGGCT-G c.1528_1586del p.Asn510Argfs*28 InFrameDeletion 14/57 - 2
17-29546023-A-T c.1528A>T p.Asn510Tyr Missense 14/57 - 1
17-29546035-CAG-TTT c.1540_1542delinsTTT p.Gln514Phe Missense 14/57 - 1
17-29546036-CAG-C c.1541_1542del p.Gln514Argfs*43 Frameshift 14/57 - 8
17-29546039-G-C c.1544G>C p.Gly515Ala Missense 14/57 - 2
17-29546040-G-A c.1545G>A p.Gly515Gly Synonymous 14/57 - 1
17-29546050-C-T c.1555C>T p.Gln519* Nonsense 14/57 - 5
17-29546051-A-C c.1556A>C p.Gln519Pro Missense 14/57 - 1
17-29546064-A-AT c.1569_1570insT p.Glu524* Nonsense 14/57 - 1
17-29546065-G-C c.1570G>C p.Glu524Gln Missense 14/57 - 1
17-29546072-T-G c.1577T>G p.Ile526Ser Missense 14/57 - 2
17-29546074-A-G c.1579A>G p.Thr527Ala Missense 14/57 - 1
17-29546088-AA-A c.1593del p.Gln531Hisfs*25 Frameshift 14/57 - 1
17-29546090-T-G c.1595T>G p.Leu532Arg Missense 14/57 - 1
17-29546098-C-T c.1603C>T p.Gln535* Nonsense 14/57 - 1
17-29546099-A-G c.1604A>G p.Gln535Arg Missense 14/57 - 1
17-29546111-C-G c.1616C>G p.Pro539Arg Missense 14/57 - 1
17-29546126-A-G c.1631A>G p.Glu544Gly Missense 14/57 - 1
17-29546134-G-T c.1639G>T p.Glu547* Nonsense 14/57 - 1
17-29546137-G-A c.1641+1G>A - IntronicSNV - 14/56 1
17-29548419-A-G c.1642-449A>G - IntronicSNV - 14/56 1
17-29548861-A-G c.1642-7A>G - IntronicSNV - 14/56 1
17-29548866-A-G c.1642-2A>G - IntronicSNV - 14/56 1
17-29548868-G-GTA c.1642_1643insTA p.Ala548Valfs*9 SpliceAcceptorInsertion 15/57 - 2
17-29548869-GCTCTGCTGGTTCTTCATCAGTTAGATAGCATTGATTTGTGGAATCCTGATGCTCCTGTA-G c.1643_1701del p.Ala548Glyfs*7 Unclassified 15/57 - 2
17-29548871-C-G c.1645C>G p.Leu549Val Missense 15/57 - 1
17-29548872-T-C c.1646T>C p.Leu549Pro Missense 15/57 - 1
17-29548874-C-A c.1648C>A p.Leu550Met Missense 15/57 - 1
17-29548875-T-TT c.1649dup p.Val551Glyfs*7 Frameshift 15/57 - 1
17-29548881-T-G c.1655T>G p.Leu552Arg Missense 15/57 - 1
17-29548881-T-C c.1655T>C p.Leu552Pro Missense 15/57 - 1
17-29548884-A-C c.1658A>C p.His553Pro Missense 15/57 - 2
17-29548884-A-G c.1658A>G p.His553Arg Missense 15/57 - 3
17-29548886-C-T c.1660C>T p.Gln554* Nonsense 15/57 - 1
17-29548886-C-G c.1660C>G p.Gln554Glu Missense 15/57 - 1
17-29548889-GTTAG-G c.1663_1666del p.Leu555Ilefs*12 Frameshift 15/57 - 1
17-29548905-T-A c.1679T>A p.Leu560* Nonsense 15/57 - 1
17-29548915-T-TT c.1689dup p.Asp564* Nonsense 15/57 - 1
17-29548939-G-A c.1713G>A p.Trp571* Nonsense 15/57 - 2
17-29548946-A-G c.1720A>G p.Ser574Gly Missense 15/57 - 1
17-29548946-A-C c.1720A>C p.Ser574Arg Missense 15/57 - 1
17-29548947-G-C c.1721G>C p.Ser574Thr Missense 15/57 - 1
17-29548947-G-A c.1721G>A p.Ser574Asn Missense 15/57 - 2
17-29548950-A-G c.1721+3A>G - IntronicSNV - 15/56 2
17-29550451-T-G c.1722-11T>G - IntronicSNV - 15/56 1
17-29550462-C-G c.1722C>G p.Ser574Arg Missense 16/57 - 1
17-29550464-C-A c.1724C>A p.Ser575* Nonsense 16/57 - 1
17-29550464-C-G c.1724C>G p.Ser575* Nonsense 16/57 - 1
17-29550466-C-T c.1726C>T p.Gln576* Nonsense 16/57 - 1
17-29550473-T-G c.1733T>G p.Leu578Arg Missense 16/57 - 1
17-29550473-T-C c.1733T>C p.Leu578Pro Missense 16/57 - 1
17-29550478-T-TT c.1738dup p.Tyr580Leufs*8 Frameshift 16/57 - 1
17-29550488-A-G c.1748A>G p.Lys583Arg Missense 16/57 - 4
17-29550489-AGAAA-A c.1749_1752del p.Lys583Asnfs*2 Frameshift 16/57 - 1
17-29550490-GAAA-G c.1750_1752del p.Lys584del InFrameDeletion 16/57 - 1
17-29550496-AACTA-A c.1756_1759del p.Thr586Valfs*18 Frameshift 16/57 - 6
17-29550515-G-A c.1775G>A p.Ser592Asn Missense 16/57 - 1
17-29550523-AGA-A c.1783_1784del p.Glu595Asnfs*14 Frameshift 16/57 - 1
17-29550523-G-T c.1783G>T p.Glu595* Nonsense 16/57 - 1
17-29550529-C-G c.1789C>G p.Leu597Val Missense 16/57 - 1
17-29550530-T-C c.1790T>C p.Leu597Pro Missense 16/57 - 2
17-29550537-G-A c.1797G>A p.Trp599* Nonsense 16/57 - 1
17-29550539-T-A c.1799T>A p.Leu600* Nonsense 16/57 - 1
17-29550542-G-A c.1802G>A p.Arg601Gln Missense 16/57 - 1
17-29550559-AGG-TGT c.1819_1821delinsTGT p.Arg607Cys Missense 16/57 - 1
17-29550573-TT-T c.1833del p.Asn614Ilefs*17 Frameshift 16/57 - 1
17-29550585-G-T c.1845G>T p.Lys615Asn Missense 16/57 - 1
17-29550586-G-A c.1845+1G>A - IntronicSNV - 16/56 1
17-29552113-C-T c.1846C>T p.Gln616* Nonsense 17/57 - 2
17-29552113-C-G c.1846C>G p.Gln616Glu Missense 17/57 - 1
17-29552122-A-T c.1855A>T p.Arg619* Nonsense 17/57 - 1
17-29552131-CT-C c.1864del p.Cys622Valfs*9 Frameshift 17/57 - 2
17-29552132-G-T c.1865G>T p.Cys622Phe Missense 17/57 - 1
17-29552143-C-A c.1876C>A p.Leu626Ile Missense 17/57 - 2
17-29552143-C-T c.1876C>T p.Leu626Phe Missense 17/57 - 1
17-29552149-T-TT c.1882dup p.Tyr628Leufs*6 Frameshift 17/57 - 2
17-29552151-C-G c.1884C>G p.Tyr628* Nonsense 17/57 - 1
17-29552151-C-A c.1884C>A p.Tyr628* Nonsense 17/57 - 1
17-29552152-G-A c.1885G>A p.Gly629Arg Missense 17/57 - 12
17-29552155-GG-G c.1888del p.Val630* Frameshift 17/57 - 2
17-29552167-TATTCCTTC-T c.1900_1907del p.Ile634* Frameshift 17/57 - 2
17-29552172-T-TG c.1905_1906insG p.Ser636Valfs*2 Frameshift 17/57 - 1
17-29552186-C-T c.1919C>T p.Thr640Ile Missense 17/57 - 1
17-29552188-A-AA c.1921dup p.Ser641Lysfs*8 Frameshift 17/57 - 1
17-29552191-C-T c.1924C>T p.Gln642* Nonsense 17/57 - 1
17-29552200-A-G c.1933A>G p.Met645Val Missense 17/57 - 4
17-29552209-G-A c.1942G>A p.Glu648Lys Missense 17/57 - 1
17-29552209-G-T c.1942G>T p.Glu648* Nonsense 17/57 - 1
17-29552212-AGA-A c.1945_1946del p.Glu649Ilefs*20 Frameshift 17/57 - 1
17-29552212-G-T c.1945G>T p.Glu649* Nonsense 17/57 - 1
17-29552217-A-AA c.1950dup p.Leu651Thrfs*19 Frameshift 17/57 - 1
17-29552239-C-T c.1972C>T p.Leu658Phe Missense 17/57 - 1
17-29552242-CCG-C c.1975_1976del p.Arg659Glufs*10 Frameshift 17/57 - 1
17-29552242-CG-TA c.1975_1976delinsTA p.Arg659* Missense 17/57 - 1
17-29552244-G-GT c.1977_1978insT p.Lys660* Nonsense 17/57 - 1
17-29552259-C-CC c.1992dup p.Ser665Leufs*5 Frameshift 17/57 - 1
17-29552261-C-T c.1994C>T p.Ser665Phe Missense 17/57 - 2
17-29552262-C-CC c.1995dup p.Ser666Leufs*4 Frameshift 17/57 - 1
17-29552264-C-T c.1997C>T p.Ser666Phe Missense 17/57 - 1
17-29552466-G-A c.2001+198G>A - IntronicSNV - 17/56 1
17-29552466-G-T c.2001+198G>T - IntronicSNV - 17/56 1
17-29553439-C-G c.2002-14C>G - IntronicSNV - 17/56 1
17-29553450-C-G c.2002-3C>G - IntronicSNV - 17/56 1
17-29553470-C-A c.2019C>A p.Cys673* Nonsense 18/57 - 1
17-29553477-A-AT c.2026_2027insT p.Thr676Ilefs*24 Frameshift 18/57 - 1
17-29553482-CCCCGATTTGCCGACAAGCCCAGACCAAACTAGAAGTGGCCCTGTACATGTTTCTGTGGA-C c.2031_2089del p.Ile679* InFrameDeletion 18/57 - 1
17-29553483-C-A c.2032C>A p.Pro678Thr Missense 18/57 - 1
17-29553484-C-CC c.2033dup p.Ile679Aspfs*21 Frameshift 18/57 - 9
17-29553484-C-T c.2033C>T p.Pro678Leu Missense 18/57 - 1
17-29553484-CC-C c.2033del p.Pro678Argfs*10 Frameshift 18/57 - 1
17-29553485-G-A c.2034G>A p.Pro678Pro Synonymous 18/57 - 4
17-29553485-G-T c.2034G>T p.Pro678Pro Synonymous 18/57 - 1
17-29553485-G-C c.2034G>C p.Pro678Pro Synonymous 18/57 - 4
17-29553492-C-T c.2041C>T p.Arg681* Nonsense 18/57 - 28
17-29553495-C-T c.2044C>T p.Gln682* Nonsense 18/57 - 3
17-29553501-C-T c.2050C>T p.Gln684* Nonsense 18/57 - 1
17-29553513-G-T c.2062G>T p.Glu688* Nonsense 18/57 - 1
17-29553517-GT-G c.2066del p.Val689Glyfs*59 Frameshift 18/57 - 1
17-29553519-G-T c.2068G>T p.Ala690Ser Missense 18/57 - 1
17-29553523-T-G c.2072T>G p.Leu691Arg Missense 18/57 - 1
17-29553531-GTTTCTGTGG-G c.2080_2088del p.Phe694_Trp696del InFrameDeletion 18/57 - 1
17-29553538-G-A c.2087G>A p.Trp696* Nonsense 18/57 - 2
17-29553539-G-A c.2088G>A p.Trp696* Nonsense 18/57 - 3
17-29553544-CCT-C c.2093_2094del p.Pro698Argfs*3 Frameshift 18/57 - 1
17-29553555-G-T c.2104G>T p.Ala702Ser Missense 18/57 - 1
17-29553555-GC-CA c.2104_2105delinsCA p.Ala702His Missense 18/57 - 1
17-29553567-GC-TT c.2116_2117delinsTT p.Ala706Phe Missense 18/57 - 1
17-29553576-T-C c.2125T>C p.Cys709Arg Missense 18/57 - 1
17-29553582-C-T c.2131C>T p.Arg711Cys Missense 18/57 - 1
17-29553597-G-C c.2146G>C p.Glu716Gln Missense 18/57 - 1
17-29553615-GG-AT c.2164_2165delinsAT p.Gly722Met Missense 18/57 - 1
17-29553618-G-GG c.2167dup p.Val723Glyfs*3 Frameshift 18/57 - 1
17-29553624-G-T c.2173G>T p.Glu725* Nonsense 18/57 - 1
17-29553629-G-C c.2178G>C p.Val726Val Synonymous 18/57 - 1
17-29553634-T-G c.2183T>G p.Val728Gly Missense 18/57 - 1
17-29553638-T-A c.2187T>A p.His729Gln Missense 18/57 - 1
17-29553638-T-G c.2187T>G p.His729Gln Missense 18/57 - 1
17-29553641-C-CG c.2190_2191insG p.Leu731Alafs*6 Frameshift 18/57 - 1
17-29553649-C-T c.2198C>T p.Pro733Leu Missense 18/57 - 1
17-29553654-T-C c.2203T>C p.Tyr735His Missense 18/57 - 1
17-29553686-GCAAT-G c.2235_2238del p.Ser745Argfs*2 Frameshift 18/57 - 1
17-29553696-T-TA c.2245_2246insA p.Ser749Tyrfs*19 Frameshift 18/57 - 1
17-29553697-C-G c.2246C>G p.Ser749* Nonsense 18/57 - 1
17-29553699-AACA-A c.2248_2250del p.Thr750del InFrameDeletion 18/57 - 1
17-29553702-G-A c.2251G>A p.Gly751Arg Missense 18/57 - 1
17-29554225-T-G c.2252-11T>G - IntronicSNV - 18/56 1
17-29554236-G-T c.2252G>T p.Gly751Val Missense 19/57 - 1
17-29554240-A-G c.2256A>G p.Arg752Arg Synonymous 19/57 - 1
17-29554250-C-T c.2266C>T p.Gln756* Nonsense 19/57 - 2
17-29554263-T-C c.2279T>C p.Met760Thr Missense 19/57 - 1
17-29554264-G-A c.2280G>A p.Met760Ile Missense 19/57 - 1
17-29554267-CA-C c.2283del p.Leu762Cysfs*2 Frameshift 19/57 - 1
17-29554271-C-CG c.2287_2288insG p.Leu763Argfs*5 Frameshift 19/57 - 1
17-29554272-T-C c.2288T>C p.Leu763Pro Missense 19/57 - 3
17-29554278-G-A c.2294G>A p.Arg765His Missense 19/57 - 2
17-29554291-C-CC c.2307dup p.Thr770Hisfs*6 Frameshift 19/57 - 2
17-29554304-A-C c.2320A>C p.Thr774Pro Missense 19/57 - 1
17-29554309-G-T c.2325G>T p.Glu775Asp Missense 19/57 - 2
17-29554310-G-A c.2325+1G>A - IntronicSNV - 19/56 1
17-29554516-C-G c.2326-25C>G - IntronicSNV - 19/56 1
17-29554529-C-T c.2326-12C>T - IntronicSNV - 19/56 1
17-29554539-A-C c.2326-2A>C - IntronicSNV - 19/56 1
17-29554540-G-A c.2326-1G>A - IntronicSNV - 19/56 1
17-29554541-G-A c.2326G>A p.Ala776Thr Missense 20/57 - 1
17-29554544-T-C c.2329T>C p.Trp777Arg Missense 20/57 - 1
17-29554544-T-A c.2329T>A p.Trp777Arg Missense 20/57 - 1
17-29554545-G-C c.2330G>C p.Trp777Ser Missense 20/57 - 1
17-29554553-AC-TA c.2338_2339delinsTA p.Thr780* Nonsense 20/57 - 1
17-29554553-A-C c.2338A>C p.Thr780Pro Missense 20/57 - 2
17-29554554-C-G c.2339C>G p.Thr780Arg Missense 20/57 - 1
17-29554554-C-A c.2339C>A p.Thr780Lys Missense 20/57 - 2
17-29554554-ACACATGCAAAATGGGAAC-A c.2339_2356del p.Thr780_Gln786delinsLys MultiAAMissense 20/57 - 1
17-29554556-ACATGCAAAATGGGAACAA-A c.2341_2358del p.His781_Gln786del InFrameDeletion 20/57 - 1
17-29554558-AT-A c.2343del p.His781Glnfs*10 Frameshift 20/57 - 1
17-29554565-T-C c.2350T>C p.Trp784Arg Missense 20/57 - 1
17-29554565-T-A c.2350T>A p.Trp784Arg Missense 20/57 - 1
17-29554567-G-A c.2352G>A p.Trp784* Nonsense 20/57 - 2
17-29554566-G-A c.2351G>A p.Trp784* Nonsense 20/57 - 2
17-29554566-G-C c.2351G>C p.Trp784Ser Missense 20/57 - 1
17-29554567-G-T c.2352G>T p.Trp784Cys Missense 20/57 - 2
17-29554567-G-C c.2352G>C p.Trp784Cys Missense 20/57 - 2
17-29554568-G-GG c.2353dup p.Glu785Glyfs*9 Frameshift 20/57 - 1
17-29554568-G-T c.2353G>T p.Glu785* Nonsense 20/57 - 1
17-29554571-C-T c.2356C>T p.Gln786* Nonsense 20/57 - 1
17-29554589-C-T c.2374C>T p.Leu792Phe Missense 20/57 - 1
17-29554589-C-CA c.2374_2375insA p.Leu792Hisfs*2 Frameshift 20/57 - 1
17-29554590-T-C c.2375T>C p.Leu792Pro Missense 20/57 - 1
17-29554591-TT-T c.2376del p.Asn793Thrfs*28 Frameshift 20/57 - 1
17-29554597-T-G c.2382T>G p.Tyr794* Nonsense 20/57 - 2
17-29554597-T-A c.2382T>A p.Tyr794* Nonsense 20/57 - 2
17-29554608-A-G c.2393A>G p.Lys798Arg Missense 20/57 - 3
17-29554622-C-T c.2407C>T p.Gln803* Nonsense 20/57 - 3
17-29556041-A-T c.2410-2A>T - IntronicSNV - 20/56 1
17-29556047-GCTG-G c.2414_2416del p.Ala805del InFrameDeletion 21/57 - 1
17-29556055-CTT-TGG c.2422_2424delinsTGG p.Leu808Trp Missense 21/57 - 1
17-29556057-TT-T c.2424del p.His809Thrfs*12 Frameshift 21/57 - 1
17-29556074-A-AA c.2441dup p.Arg815Glufs*16 Frameshift 21/57 - 1
17-29556079-C-T c.2446C>T p.Arg816* Nonsense 21/57 - 13
17-29556084-G-GG c.2451dup p.Ser818Valfs*13 Frameshift 21/57 - 1
17-29556097-G-T c.2464G>T p.Gly822* Nonsense 21/57 - 2
17-29556104-G-C c.2471G>C p.Gly824Ala Missense 21/57 - 1
17-29556109-A-G c.2476A>G p.Ile826Val Missense 21/57 - 1
17-29556142-T-C c.2509T>C p.Trp837Arg Missense 21/57 - 1
17-29556142-T-A c.2509T>A p.Trp837Arg Missense 21/57 - 1
17-29556154-A-C c.2521A>C p.Thr841Pro Missense 21/57 - 1
17-29556157-GGCTTCCT-AGCTTCCA c.2524_2531delinsAGCTTCCA p.Gly842_Leu844delinsSerPheHis MultiAAMissense 21/57 - 1
17-29556157-G-A c.2524G>A p.Gly842Ser Missense 21/57 - 1
17-29556163-C-T c.2530C>T p.Leu844Phe Missense 21/57 - 3
17-29556164-T-G c.2531T>G p.Leu844Arg Missense 21/57 - 3
17-29556164-T-C c.2531T>C p.Leu844Pro Missense 21/57 - 1
17-29556164-T-A c.2531T>A p.Leu844His Missense 21/57 - 1
17-29556166-T-C c.2533T>C p.Cys845Arg Missense 21/57 - 2
17-29556167-G-A c.2534G>A p.Cys845Tyr Missense 21/57 - 2
17-29556169-G-C c.2536G>C p.Ala846Pro Missense 21/57 - 1
17-29556170-C-A c.2537C>A p.Ala846Asp Missense 21/57 - 1
17-29556172-C-T c.2539C>T p.Leu847Phe Missense 21/57 - 2
17-29556172-C-G c.2539C>G p.Leu847Val Missense 21/57 - 1
17-29556173-T-C c.2540T>C p.Leu847Pro Missense 21/57 - 10
17-29556173-T-G c.2540T>G p.Leu847Arg Missense 21/57 - 5
17-29556175-G-C c.2542G>C p.Gly848Arg Missense 21/57 - 11
17-29556175-G-A c.2542G>A p.Gly848Arg Missense 21/57 - 9
17-29556176-G-A c.2543G>A p.Gly848Glu Missense 21/57 - 3
17-29556177-G-A c.2544G>A p.Gly848Gly Synonymous 21/57 - 1
17-29556177-G-C c.2544G>C p.Gly848Gly Synonymous 21/57 - 1
17-29556179-G-GG c.2546dup p.Val850Serfs*15 Frameshift 21/57 - 2
17-29556190-C-T c.2557C>T p.Gln853* Nonsense 21/57 - 4
17-29556229-C-T c.2596C>T p.Pro866Ser Missense 21/57 - 1
17-29556235-G-C c.2602G>C p.Gly868Arg Missense 21/57 - 1
17-29556257-G-A c.2624G>A p.Gly875Asp Missense 21/57 - 1
17-29556294-A-AT c.2661_2662insT p.Asp888* Nonsense 21/57 - 1
17-29556307-CA-C c.2674del p.Ser892Alafs*10 Frameshift 21/57 - 1
17-29556314-T-G c.2681T>G p.Phe894Cys Missense 21/57 - 1
17-29556318-G-A c.2685G>A p.Met895Ile Missense 21/57 - 1
17-29556318-G-C c.2685G>C p.Met895Ile Missense 21/57 - 1
17-29556318-G-T c.2685G>T p.Met895Ile Missense 21/57 - 1
17-29556319-G-A c.2686G>A p.Asp896Asn Missense 21/57 - 1
17-29556326-T-C c.2693T>C p.Leu898Pro Missense 21/57 - 4
17-29556342-G-A c.2709G>A p.Val903Val Synonymous 21/57 - 3
17-29556342-G-T c.2709G>T p.Val903Val Synonymous 21/57 - 2
17-29556367-C-T c.2734C>T p.Gln912* Nonsense 21/57 - 2
17-29556369-A-C c.2736A>C p.Gln912His Missense 21/57 - 1
17-29556369-A-T c.2736A>T p.Gln912His Missense 21/57 - 1
17-29556383-T-G c.2750T>G p.Val917Gly Missense 21/57 - 1
17-29556384-T-TT c.2751dup p.Lys918* Nonsense 21/57 - 1
17-29556416-C-T c.2783C>T p.Ala928Val Missense 21/57 - 1
17-29556431-T-C c.2798T>C p.Leu933Pro Missense 21/57 - 1
17-29556439-A-T c.2806A>T p.Lys936* Nonsense 21/57 - 1
17-29556443-T-A c.2810T>A p.Leu937* Nonsense 21/57 - 2
17-29556451-A-G c.2818A>G p.Thr940Ala Missense 21/57 - 1
17-29556468-T-TA c.2835_2836insA p.Asp946Argfs*10 Frameshift 21/57 - 1
17-29556475-C-T c.2842C>T p.Gln948* Nonsense 21/57 - 1
17-29556481-ACAG-A c.2848_2850del p.Gln950del InFrameDeletion 21/57 - 1
17-29556481-C-T c.2848C>T p.Gln950* Nonsense 21/57 - 2
17-29556483-G-A c.2850G>A p.Gln950Gln Synonymous 21/57 - 1
17-29556837-T-C c.2851-16T>C - IntronicSNV - 21/56 2
17-29556851-A-G c.2851-2A>G - IntronicSNV - 21/56 2
17-29556851-A-C c.2851-2A>C - IntronicSNV - 21/56 1
17-29556853-GGTT-G c.2851_2853del p.Val951del InFrameDeletion 22/57 - 1
17-29556853-G-T c.2851G>T p.Val951Phe Missense 22/57 - 1
17-29556857-T-A c.2855T>A p.Leu952* Nonsense 22/57 - 1
17-29556857-T-G c.2855T>G p.Leu952* Nonsense 22/57 - 1
17-29556860-T-TA c.2858_2859insA p.Thr954Aspfs*2 Frameshift 22/57 - 1
17-29556872-A-T c.2870A>T p.Asn957Ile Missense 22/57 - 1
17-29556877-C-T c.2875C>T p.Gln959* Nonsense 22/57 - 3
17-29556881-TT-AA c.2879_2880inv p.Phe960* Nonsense 22/57 - 1
17-29556882-TT-T c.2880del p.Phe960Leufs*2 Frameshift 22/57 - 1
17-29556889-C-T c.2887C>T p.Gln963* Nonsense 22/57 - 1
17-29556917-T-C c.2915T>C p.Leu972Pro Missense 22/57 - 2
17-29556923-A-G c.2921A>G p.Asn974Ser Missense 22/57 - 1
17-29556930-CT-C c.2928del p.Glu977Lysfs*7 Frameshift 22/57 - 1
17-29556949-TC-T c.2947del p.Leu983* Frameshift 22/57 - 1
17-29556955-C-T c.2953C>T p.Gln985* Nonsense 22/57 - 3
17-29556972-CAAT-C c.2970_2972del p.Met992del InFrameDeletion 22/57 - 11
17-29556975-TGATG-T c.2973_2976del p.Met991Ilefs*2 Frameshift 22/57 - 1
17-29556976-GATG-G c.2974_2976del p.Met992del InFrameDeletion 22/57 - 11
17-29556977-T-A c.2975T>A p.Met992Lys Missense 22/57 - 1
17-29556983-A-AA c.2981dup p.Asn994Lysfs*27 Frameshift 22/57 - 1
17-29556984-AT-A c.2982del p.Leu995Trpfs*17 Frameshift 22/57 - 1
17-29556988-G-GAC c.2986_2987insAC p.Val996Aspfs*17 Frameshift 22/57 - 1
17-29556989-T-TAC c.2987_2988insAC p.Arg997Profs*16 Frameshift 22/57 - 1
17-29556992-G-C c.2990G>C p.Arg997Thr Missense 22/57 - 1
17-29556992-G-A c.2990G>A p.Arg997Lys Missense 22/57 - 1
17-29556993-G-A c.2990+1G>A - IntronicSNV - 22/56 1
17-29557279-T-G c.2992T>G p.Tyr998Asp Missense 23/57 - 1
17-29557315-C-T c.3028C>T p.Gln1010* Nonsense 23/57 - 2
17-29557322-AAAACGAAA-A c.3035_3042del p.Lys1012Thrfs*6 Frameshift 23/57 - 1
17-29557324-AA-A c.3037del p.Thr1013Argfs*6 Frameshift 23/57 - 1
17-29557327-A-T c.3040A>T p.Lys1014* Nonsense 23/57 - 1
17-29557328-A-C c.3041A>C p.Lys1014Thr Missense 23/57 - 1
17-29557330-AC-A c.3043del p.Leu1015Cysfs*4 Frameshift 23/57 - 1
17-29557331-T-C c.3044T>C p.Leu1015Pro Missense 23/57 - 2
17-29557333-T-C c.3046T>C p.Cys1016Arg Missense 23/57 - 1
17-29557334-G-A c.3047G>A p.Cys1016Tyr Missense 23/57 - 1
17-29557334-TGT-T c.3047_3048del p.Cys1016Serfs*4 Frameshift 23/57 - 1
17-29557335-T-TTGTGAATT c.3048_3049insTGTGAATT p.Gln1017Cysfs*5 Frameshift 23/57 - 1
17-29557340-TTAGTT-T c.3053_3057del p.Leu1018* Frameshift 23/57 - 1
17-29557363-A-G c.3076A>G p.Arg1026Gly Missense 23/57 - 1
17-29557375-CTC-C c.3088_3089del p.Ser1030Ilefs*8 Frameshift 23/57 - 1
17-29557376-C-G c.3089C>G p.Ser1030* Nonsense 23/57 - 1
17-29557384-C-T c.3097C>T p.Gln1033* Nonsense 23/57 - 1
17-29557385-A-G c.3098A>G p.Gln1033Arg Missense 23/57 - 1
17-29557391-T-G c.3104T>G p.Met1035Arg Missense 23/57 - 3
17-29557391-T-C c.3104T>C p.Met1035Thr Missense 23/57 - 1
17-29557391-T-A c.3104T>A p.Met1035Lys Missense 23/57 - 1
17-29557393-A-G c.3106A>G p.Lys1036Glu Missense 23/57 - 1
17-29557397-T-G c.3110T>G p.Phe1037Cys Missense 23/57 - 1
17-29557399-A-G c.3112A>G p.Arg1038Gly Missense 23/57 - 5
17-29557400-G-C c.3113G>C p.Arg1038Thr Missense 23/57 - 2
17-29557400-G-A c.3113G>A p.Arg1038Lys Missense 23/57 - 2
17-29557401-G-A c.3113+1G>A - IntronicSNV - 23/56 4
17-29557401-G-C c.3113+1G>C - IntronicSNV - 23/56 2
17-29557860-G-T c.3114G>T p.Arg1038Ser Missense 24/57 - 2
17-29557870-G-GAT c.3124_3125insAT p.Val1042Aspfs*2 Frameshift 24/57 - 1
17-29557878-C-A c.3132C>A p.Tyr1044* Nonsense 24/57 - 1
17-29557888-T-G c.3142T>G p.Trp1048Gly Missense 24/57 - 1
17-29557906-A-C c.3160A>C p.Asn1054His Missense 24/57 - 1
17-29557907-AA-A c.3161del p.Asn1054Thrfs*8 Frameshift 24/57 - 1
17-29557921-G-A c.3175G>A p.Asp1059Asn Missense 24/57 - 1
17-29557932-A-T c.3186A>T p.Lys1062Asn Missense 24/57 - 1
17-29557932-A-C c.3186A>C p.Lys1062Asn Missense 24/57 - 1
17-29557932-AA-A c.3186del p.Lys1062Asnfs*15 Frameshift 24/57 - 1
17-29557933-T-TTA c.3187_3188insTA p.Cys1063Leufs*15 Frameshift 24/57 - 1
17-29557935-T-A c.3189T>A p.Cys1063* Nonsense 24/57 - 1
17-29557943-G-A c.3197G>A p.Arg1066Lys Missense 24/57 - 1
17-29557945-T-A c.3197+2T>A - IntronicSNV - 24/56 1
17-29558777-G-A c.3198-314G>A - IntronicSNV - 24/56 1
17-29559089-A-G c.3198-2A>G - IntronicSNV - 24/56 1
17-29559089-A-C c.3198-2A>C - IntronicSNV - 24/56 1
17-29559100-C-A c.3207C>A p.Asp1069Glu Missense 25/57 - 1
17-29559101-C-T c.3208C>T p.Gln1070* Nonsense 25/57 - 4
17-29559104-G-C c.3211G>C p.Ala1071Pro Missense 25/57 - 2
17-29559106-CAA-C c.3213_3214del p.Ser1072Hisfs*16 Frameshift 25/57 - 2
17-29559125-TT-T c.3232del p.Ser1078Hisfs*3 Frameshift 25/57 - 1
17-29559132-T-A c.3239T>A p.Leu1080Gln Missense 25/57 - 1
17-29559134-G-A c.3241G>A p.Ala1081Thr Missense 25/57 - 1
17-29559143-C-T c.3250C>T p.Pro1084Ser Missense 25/57 - 2
17-29559144-C-A c.3251C>A p.Pro1084His Missense 25/57 - 1
17-29559149-C-T c.3256C>T p.Gln1086* Nonsense 25/57 - 1
17-29559152-C-T c.3259C>T p.Pro1087Ser Missense 25/57 - 1
17-29559173-GG-G c.3280del p.Glu1094Asnfs*2 Frameshift 25/57 - 1
17-29559185-G-A c.3292G>A p.Ala1098Thr Missense 25/57 - 1
17-29559188-A-G c.3295A>G p.Lys1099Glu Missense 25/57 - 1
17-29559189-A-C c.3296A>C p.Lys1099Thr Missense 25/57 - 1
17-29559191-T-A c.3298T>A p.Ser1100Thr Missense 25/57 - 1
17-29559192-C-T c.3299C>T p.Ser1100Leu Missense 25/57 - 1
17-29559199-A-AA c.3306dup p.Phe1103Ilefs*3 Frameshift 25/57 - 1
17-29559205-T-TT c.3312dup p.Lys1105* SpliceDonorInsertion 25/57 - 1
17-29559206-A-T c.3313A>T p.Lys1105* Nonsense 25/57 - 1
17-29559208-G-C c.3314+1G>C - IntronicSNV - 25/56 1
17-29559209-T-C c.3314+2T>C - IntronicSNV - 25/56 1
17-29559710-T-G c.3315-8T>G - IntronicSNV - 25/56 1
17-29559729-T-A c.3326T>A p.Leu1109* Nonsense 26/57 - 1
17-29559729-T-G c.3326T>G p.Leu1109* Nonsense 26/57 - 1
17-29559730-TATT-T c.3327_3329del p.Leu1109del InFrameDeletion 26/57 - 1
17-29559740-C-T c.3337C>T p.Leu1113Phe Missense 26/57 - 1
17-29559757-GTGAAGTTGAAGATGAAAGTGCG-G c.3354_3375del p.Glu1119Lysfs*16 Frameshift 26/57 - 1
17-29559758-G-T c.3355G>T p.Glu1119* Nonsense 26/57 - 1
17-29559760-AA-A c.3357del p.Val1120Leufs*22 Frameshift 26/57 - 1
17-29559765-A-G c.3362A>G p.Glu1121Gly Missense 26/57 - 2
17-29559774-G-A c.3371G>A p.Ser1124Asn Missense 26/57 - 1
17-29559785-AGG-A c.3382_3383del p.Gly1128Trpfs*66 Frameshift 26/57 - 1
17-29559798-G-A c.3395G>A p.Arg1132His Missense 26/57 - 1
17-29559801-G-A c.3398G>A p.Gly1133Asp Missense 26/57 - 1
17-29559818-GGC-G c.3415_3416del p.Ala1139Ilefs*55 Frameshift 26/57 - 1
17-29559825-T-G c.3422T>G p.Leu1141Arg Missense 26/57 - 1
17-29559827-GAG-G c.3424_3425del p.Arg1142Alafs*52 Frameshift 26/57 - 1
17-29559839-G-A c.3436G>A p.Val1146Ile Missense 26/57 - 2
17-29559848-A-G c.3445A>G p.Met1149Val Missense 26/57 - 5
17-29559848-A-T c.3445A>T p.Met1149Leu Missense 26/57 - 1
17-29559849-T-C c.3446T>C p.Met1149Thr Missense 26/57 - 1
17-29559850-G-A c.3447G>A p.Met1149Ile Missense 26/57 - 3
17-29559859-A-AA c.3456dup p.Leu1153Thrfs*42 Frameshift 26/57 - 1
17-29559860-ACTCA-A c.3457_3460del p.Leu1153Metfs*4 Frameshift 26/57 - 4
17-29559870-A-G c.3467A>G p.Asn1156Ser Missense 26/57 - 1
17-29559887-A-G c.3484A>G p.Met1162Val Missense 26/57 - 2
17-29559891-CAC-C c.3488_3489del p.His1163Leufs*31 Frameshift 26/57 - 1
17-29559892-ACTCCATAGGTGAGATCAAATGAAAGTTTCATATAGAAATACAAAACCTAGAGAACTGGC-A c.3489_3496+51del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 26/57 26/56 1
17-29559897-T-C c.3494T>C p.Ile1165Thr Missense 26/57 - 2
17-29559899-G-A c.3496G>A p.Gly1166Ser Missense 26/57 - 2
17-29560020-G-A c.3497G>A p.Gly1166Asp Missense 27/57 - 1
17-29560031-CC-C c.3508del p.His1170Thrfs*14 Frameshift 27/57 - 1
17-29560032-A-T c.3509A>T p.His1170Leu Missense 27/57 - 1
17-29560041-CTCC-C c.3518_3520del p.Leu1173del InFrameDeletion 27/57 - 1
17-29560043-C-T c.3520C>T p.Gln1174* Nonsense 27/57 - 3
17-29560048-CAA-C c.3525_3526del p.Arg1176Serfs*18 Frameshift 27/57 - 1
17-29560063-G-C c.3540G>C p.Met1180Ile Missense 27/57 - 1
17-29560063-G-T c.3540G>T p.Met1180Ile Missense 27/57 - 1
17-29560063-G-A c.3540G>A p.Met1180Ile Missense 27/57 - 1
17-29560068-T-A c.3545T>A p.Val1182Asp Missense 27/57 - 1
17-29560085-C-T c.3562C>T p.Gln1188* Nonsense 27/57 - 1
17-29560087-AC-TGA c.3564_3565delinsTGA p.Gln1188Hisfs*7 Frameshift 27/57 - 1
17-29560092-GG-G c.3569del p.Gly1190Alafs*25 Frameshift 27/57 - 3
17-29560095-C-G c.3572C>G p.Thr1191Arg Missense 27/57 - 1
17-29560097-G-T c.3574G>T p.Glu1192* Nonsense 27/57 - 2
17-29560101-T-G c.3578T>G p.Phe1193Cys Missense 27/57 - 1
17-29560109-CTT-ATG c.3586_3588delinsATG p.Leu1196Met Missense 27/57 - 1
17-29560109-C-T c.3586C>T p.Leu1196Phe Missense 27/57 - 1
17-29560110-T-G c.3587T>G p.Leu1196Arg Missense 27/57 - 1
17-29560115-G-A c.3592G>A p.Glu1198Lys Missense 27/57 - 1
17-29560118-A-AGG c.3595_3596insGG p.Thr1199Argfs*17 Frameshift 27/57 - 1
17-29560127-G-T c.3604G>T p.Ala1202Ser Missense 27/57 - 1
17-29560133-C-T c.3610C>T p.Arg1204Trp Missense 27/57 - 5
17-29560133-C-G c.3610C>G p.Arg1204Gly Missense 27/57 - 3
17-29560134-G-T c.3611G>T p.Arg1204Leu Missense 27/57 - 1
17-29560138-TTG-T c.3615_3616del p.Phe1205Leufs*12 Frameshift 27/57 - 1
17-29560139-G-T c.3616G>T p.Glu1206* Nonsense 27/57 - 1
17-29560146-TT-T c.3623del p.Leu1208Trpfs*7 Frameshift 27/57 - 1
17-29560146-T-G c.3623T>G p.Leu1208Trp Missense 27/57 - 2
17-29560151-GGAACTGGTCAC-G c.3628_3638del p.Glu1210Asnfs*4 Frameshift 27/57 - 1
17-29560155-T-G c.3632T>G p.Leu1211Arg Missense 27/57 - 2
17-29560166-GATG-G c.3643_3645del p.Met1215del InFrameDeletion 27/57 - 1
17-29560168-G-C c.3645G>C p.Met1215Ile Missense 27/57 - 1
17-29560169-G-T c.3646G>T p.Gly1216Cys Missense 27/57 - 1
17-29560172-G-T c.3649G>T p.Asp1217Tyr Missense 27/57 - 1
17-29560173-A-G c.3650A>G p.Asp1217Gly Missense 27/57 - 2
17-29560173-A-C c.3650A>C p.Asp1217Ala Missense 27/57 - 1
17-29560175-C-T c.3652C>T p.Gln1218* Nonsense 27/57 - 2
17-29560178-G-C c.3655G>C p.Gly1219Arg Missense 27/57 - 1
17-29560178-G-A c.3655G>A p.Gly1219Arg Missense 27/57 - 1
17-29560187-C-T c.3664C>T p.Pro1222Ser Missense 27/57 - 1
17-29560194-C-T c.3671C>T p.Ala1224Val Missense 27/57 - 1
17-29560209-A-G c.3686A>G p.Asn1229Ser Missense 27/57 - 1
17-29560226-C-T c.3703C>T p.Gln1235* Nonsense 27/57 - 2
17-29560230-G-A c.3707G>A p.Trp1236* Nonsense 27/57 - 2
17-29560800-A-G c.3708+569A>G - IntronicSNV - 27/56 1
17-29562620-T-A c.3709-9T>A - IntronicSNV - 27/56 1
17-29562627-A-G c.3709-2A>G - IntronicSNV - 27/56 3
17-29562630-GA-G c.3710del p.Asp1237Valfs*3 Frameshift 28/57 - 1
17-29562632-G-T c.3712G>T p.Glu1238* Nonsense 28/57 - 1
17-29562641-TC-T c.3721del p.Arg1241Glufs*25 Frameshift 28/57 - 1
17-29562641-C-T c.3721C>T p.Arg1241* Nonsense 28/57 - 8
17-29562647-TCT-T c.3727_3728del p.Leu1243Glyfs*5 Frameshift 28/57 - 1
17-29562650-GG-G c.3730del p.Val1244Leufs*22 Frameshift 28/57 - 1
17-29562654-C-G c.3734C>G p.Thr1245Ser Missense 28/57 - 1
17-29562659-GTTTG-G c.3739_3742del p.Phe1247Ilefs*18 Frameshift 28/57 - 3
17-29562661-T-TT c.3741dup p.Asp1248* Nonsense 28/57 - 1
17-29562665-TTCTCGGCATTTACTCTACCA-T c.3745_3764del p.Ser1249Thrfs*8 Frameshift 28/57 - 1
17-29562668-C-A c.3748C>A p.Arg1250Arg Synonymous 28/57 - 1
17-29562668-CG-GC c.3748_3749delinsGC p.Arg1250Ala Missense 28/57 - 1
17-29562669-G-A c.3749G>A p.Arg1250Gln Missense 28/57 - 1
17-29562672-A-C c.3752A>C p.His1251Pro Missense 28/57 - 1
17-29562677-ACTCTACCA-A c.3757_3764del p.Leu1253Thrfs*8 Frameshift 28/57 - 1
17-29562683-C-T c.3763C>T p.Gln1255* Nonsense 28/57 - 2
17-29562694-G-A c.3774G>A p.Trp1258* Nonsense 28/57 - 2
17-29562716-G-T c.3796G>T p.Glu1266* Nonsense 28/57 - 1
17-29562727-C-CC c.3807dup p.Ser1270Leufs*14 Frameshift 28/57 - 1
17-29562746-C-T c.3826C>T p.Arg1276* Nonsense 28/57 - 17
17-29562746-C-G c.3826C>G p.Arg1276Gly Missense 28/57 - 2
17-29562746-CG-GC c.3826_3827delinsGC p.Arg1276Ala Missense 28/57 - 4
17-29562746-CG-GA c.3826_3827delinsGA p.Arg1276Glu Missense 28/57 - 2
17-29562747-G-A c.3827G>A p.Arg1276Gln Missense 28/57 - 15
17-29562747-G-C c.3827G>C p.Arg1276Pro Missense 28/57 - 19
17-29562747-G-T c.3827G>T p.Arg1276Leu Missense 28/57 - 1
17-29562751-C-T c.3831C>T p.Gly1277Gly Synonymous 28/57 - 1
17-29562751-C-G c.3831C>G p.Gly1277Gly Synonymous 28/57 - 1
17-29562751-C-A c.3831C>A p.Gly1277Gly Synonymous 28/57 - 1
17-29562767-AA-GC c.3847_3848delinsGC p.Lys1283Ala Missense 28/57 - 1
17-29562788-A-T c.3868A>T p.Lys1290* Nonsense 28/57 - 1
17-29562790-G-A c.3870G>A p.Lys1290Lys Synonymous 28/57 - 1
17-29562792-T-A c.3870+2T>A - IntronicSNV - 28/56 1
17-29562935-G-T c.3871-1G>T - IntronicSNV - 28/56 1
17-29562940-A-G c.3875A>G p.Tyr1292Cys Missense 29/57 - 1
17-29562953-T-A c.3888T>A p.Tyr1296* Nonsense 29/57 - 2
17-29562961-AAACTCCTGGATC-A c.3896_3907del p.Lys1299_Pro1303delinsThr MultiAAMissense 29/57 - 1
17-29562964-CT-C c.3899del p.Leu1300Profs*9 Frameshift 29/57 - 1
17-29562969-G-T c.3904G>T p.Asp1302Tyr Missense 29/57 - 1
17-29562969-GGATCCTT-G c.3904_3910del p.Asp1302Tyrfs*5 Frameshift 29/57 - 1
17-29562971-ATCCTTTATTACGA-A c.3906_3918del p.Asp1302Glufs*3 Frameshift 29/57 - 1
17-29562981-C-T c.3916C>T p.Arg1306* Nonsense 29/57 - 11
17-29562982-G-A c.3917G>A p.Arg1306Gln Missense 29/57 - 2
17-29562987-G-T c.3922G>T p.Val1308Leu Missense 29/57 - 1
17-29562987-G-C c.3922G>C p.Val1308Leu Missense 29/57 - 1
17-29562993-ACA-TGT c.3928_3930inv p.Thr1310Cys Missense 29/57 - 1
17-29563007-GC-AA c.3942_3943delinsAA p.Trp1314_Gln1315delins* MultiAAMissense 29/57 - 1
17-29563008-C-T c.3943C>T p.Gln1315* Nonsense 29/57 - 1
17-29563016-T-G c.3951T>G p.Val1317Val Synonymous 29/57 - 1
17-29563033-C-T c.3968C>T p.Pro1323Leu Missense 29/57 - 1
17-29563035-A-G c.3970A>G p.Thr1324Ala Missense 29/57 - 1
17-29563039-G-C c.3974G>C p.Arg1325Thr Missense 29/57 - 1
17-29563039-G-A c.3974G>A p.Arg1325Lys Missense 29/57 - 1
17-29564603-G-A c.3974+1564G>A - IntronicSNV - 29/56 2
17-29564603-G-T c.3974+1564G>T - IntronicSNV - 29/56 2
17-29572925-C-T c.3975-3077C>T - IntronicSNV - 29/56 1
17-29575803-A-G c.3975-199A>G - IntronicSNV - 29/56 1
17-29576002-GG-G c.3975del p.Arg1325Serfs*2 Frameshift 30/57 - 1
17-29576003-T-A c.3976T>A p.Leu1326Ile Missense 30/57 - 1
17-29576004-T-G c.3977T>G p.Leu1326* Nonsense 30/57 - 1
17-29576016-A-C c.3989A>C p.Glu1330Ala Missense 30/57 - 1
17-29576027-G-T c.4000G>T p.Glu1334* Nonsense 30/57 - 1
17-29576033-C-T c.4006C>T p.Gln1336* Nonsense 30/57 - 5
17-29576042-C-T c.4015C>T p.Leu1339Phe Missense 30/57 - 1
17-29576043-T-G c.4016T>G p.Leu1339Arg Missense 30/57 - 1
17-29576048-C-T c.4021C>T p.Gln1341* Nonsense 30/57 - 1
17-29576050-G-A c.4023G>A p.Gln1341Gln Synonymous 30/57 - 1
17-29576080-C-G c.4053C>G p.Ile1351Met Missense 30/57 - 1
17-29576093-G-A c.4066G>A p.Glu1356Lys Missense 30/57 - 1
17-29576109-T-G c.4082T>G p.Leu1361Arg Missense 30/57 - 1
17-29576110-T-TT c.4083dup p.Arg1362Serfs*12 Frameshift 30/57 - 1
17-29576111-C-T c.4084C>T p.Arg1362* Nonsense 30/57 - 14
17-29576114-AA-A c.4087del p.Ser1363Valfs*22 Frameshift 30/57 - 1
17-29576130-T-G c.4103T>G p.Leu1368* Nonsense 30/57 - 1
17-29576134-C-A c.4107C>A p.Tyr1369* Nonsense 30/57 - 2
17-29576135-C-T c.4108C>T p.Gln1370* Nonsense 30/57 - 2
17-29576135-CCAG-C c.4108_4110del p.Gln1370del InFrameDeletion 30/57 - 1
17-29576138-G-C c.4110+1G>C - IntronicSNV - 30/56 1
17-29578251-C-T c.4110+2114C>T - IntronicSNV - 30/56 1
17-29585364-G-T c.4113G>T p.Val1371Val Synonymous 31/57 - 1
17-29585365-GGT-G c.4114_4115del p.Val1372* Frameshift 31/57 - 2
17-29585389-A-T c.4138A>T p.Ser1380Cys Missense 31/57 - 1
17-29585394-TCGGT-T c.4143_4146del p.Ile1381Metfs*3 Frameshift 31/57 - 1
17-29585395-GG-AC c.4144_4145delinsAC p.Gly1382Thr Missense 31/57 - 1
17-29585401-G-A c.4150G>A p.Val1384Ile Missense 31/57 - 1
17-29585419-C-T c.4168C>T p.Leu1390Phe Missense 31/57 - 2
17-29585419-CC-C c.4168del p.Leu1390Serfs*17 Frameshift 31/57 - 1
17-29585422-AG-GC c.4171_4172delinsGC p.Arg1391Ala Missense 31/57 - 1
17-29585423-G-C c.4172G>C p.Arg1391Thr Missense 31/57 - 3
17-29585424-A-C c.4173A>C p.Arg1391Ser Missense 31/57 - 5
17-29585424-A-T c.4173A>T p.Arg1391Ser Missense 31/57 - 5
17-29585431-A-C c.4180A>C p.Asn1394His Missense 31/57 - 1
17-29585454-T-TT c.4203dup p.Glu1402* Nonsense 31/57 - 1
17-29585458-G-A c.4207G>A p.Ala1403Thr Missense 31/57 - 1
17-29585478-AGCCACCACCTAGAATCGAAAGGGGCTTGAAGTTAATGTCAAAGGTGAATTATTTTGATA-A c.4227_4269+16del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 31/57 31/56 1
17-29585488-A-G c.4237A>G p.Arg1413Gly Missense 31/57 - 1
17-29585494-G-T c.4243G>T p.Glu1415* Nonsense 31/57 - 1
17-29585497-A-AA c.4246dup p.Arg1416Lysfs*30 Frameshift 31/57 - 1
17-29585503-T-TC c.4252_4253insC p.Leu1418Serfs*28 Frameshift 31/57 - 1
17-29585506-AA-GC c.4255_4256delinsGC p.Lys1419Ala Missense 31/57 - 1
17-29585513-ATGTCAA-A c.4262_4267del p.Met1421_Ser1422del InFrameDeletion 31/57 - 1
17-29585518-A-G c.4267A>G p.Lys1423Glu Missense 31/57 - 12
17-29585518-A-T c.4267A>T p.Lys1423* Nonsense 31/57 - 1
17-29585518-A-C c.4267A>C p.Lys1423Gln Missense 31/57 - 2
17-29585518-AA-GG c.4267_4268delinsGG p.Lys1423Gly Missense 31/57 - 1
17-29585519-A-T c.4268A>T p.Lys1423Met Missense 31/57 - 2
17-29585519-A-G c.4268A>G p.Lys1423Arg Missense 31/57 - 1
17-29585519-A-C c.4268A>C p.Lys1423Thr Missense 31/57 - 1
17-29585520-G-T c.4269G>T p.Lys1423Asn Missense 31/57 - 1
17-29585520-G-C c.4269G>C p.Lys1423Asn Missense 31/57 - 1
17-29585522-T-C c.4269+2T>C - IntronicSNV - 31/56 1
17-29585522-GTGAATTATTTTG-G c.4269+2_4269+13del - SpliceDonorDeletion - 31/56 1
17-29586048-A-G c.4270-2A>G - IntronicSNV - 31/56 1
17-29586056-C-A c.4276C>A p.Gln1426Lys Missense 32/57 - 1
17-29586056-C-G c.4276C>G p.Gln1426Glu Missense 32/57 - 1
17-29586057-A-G c.4277A>G p.Gln1426Arg Missense 32/57 - 2
17-29586058-G-T c.4278G>T p.Gln1426His Missense 32/57 - 1
17-29586058-G-C c.4278G>C p.Gln1426His Missense 32/57 - 1
17-29586068-A-C c.4288A>C p.Asn1430His Missense 32/57 - 1
17-29586068-A-T c.4288A>T p.Asn1430Tyr Missense 32/57 - 1
17-29586068-A-G c.4288A>G p.Asn1430Asp Missense 32/57 - 2
17-29586069-A-C c.4289A>C p.Asn1430Thr Missense 32/57 - 1
17-29586074-G-C c.4294G>C p.Val1432Leu Missense 32/57 - 1
17-29586086-A-C c.4306A>C p.Lys1436Gln Missense 32/57 - 1
17-29586086-A-G c.4306A>G p.Lys1436Glu Missense 32/57 - 3
17-29586089-G-T c.4309G>T p.Glu1437* Nonsense 32/57 - 1
17-29586092-AGAA-A c.4312_4314del p.Glu1438del InFrameDeletion 32/57 - 1
17-29586098-A-G c.4318A>G p.Met1440Val Missense 32/57 - 1
17-29586099-T-TA c.4319_4320insA p.Met1440Ilefs*6 Frameshift 32/57 - 1
17-29586110-A-G c.4330A>G p.Asn1444Asp Missense 32/57 - 2
17-29586147-G-C c.4367G>C p.Arg1456Thr Missense 32/57 - 1
17-29586586-C-A c.4367+439C>A - IntronicSNV - 32/56 1
17-29587386-G-C c.4368-1G>C - IntronicSNV - 32/56 1
17-29587389-TT-AA c.4370_4371inv p.Phe1457* Nonsense 33/57 - 1
17-29587393-TCC-T c.4374_4375del p.Leu1459* Frameshift 33/57 - 1
17-29587400-AT-TA c.4381_4382delinsTA p.Ile1461* Nonsense 33/57 - 1
17-29587407-C-T c.4388C>T p.Ser1463Phe Missense 33/57 - 2
17-29587421-A-G c.4402A>G p.Ser1468Gly Missense 33/57 - 1
17-29587438-AT-A c.4419del p.His1473Glnfs*6 Frameshift 33/57 - 1
17-29587440-AG-A c.4421del p.Ser1474Ilefs*5 Frameshift 33/57 - 1
17-29587454-A-G c.4435A>G p.Ser1479Gly Missense 33/57 - 2
17-29587488-T-C c.4469T>C p.Leu1490Pro Missense 33/57 - 2
17-29587492-G-A c.4473G>A p.Trp1491* Nonsense 33/57 - 1
17-29587491-G-A c.4472G>A p.Trp1491* Nonsense 33/57 - 1
17-29587500-A-G c.4481A>G p.Gln1494Arg Missense 33/57 - 1
17-29587512-G-A c.4493G>A p.Gly1498Glu Missense 33/57 - 2
17-29587520-TCT-T c.4501_4502del p.Leu1501Phefs*7 Frameshift 33/57 - 1
17-29587520-C-G c.4501C>G p.Leu1501Val Missense 33/57 - 1
17-29587917-A-C c.4514+384A>C - IntronicSNV - 33/56 1
17-29588727-A-G c.4515-2A>G - IntronicSNV - 33/56 1
17-29588727-A-T c.4515-2A>T - IntronicSNV - 33/56 1
17-29588748-AGA-CAT c.4534_4536delinsCAT p.Arg1512His Missense 34/57 - 1
17-29588751-C-T c.4537C>T p.Arg1513* Nonsense 34/57 - 12
17-29588763-A-T c.4549A>T p.Lys1517* Nonsense 34/57 - 1
17-29588786-C-G c.4572C>G p.Tyr1524* Nonsense 34/57 - 2
17-29588828-G-A c.4614G>A p.Trp1538* Nonsense 34/57 - 1
17-29588827-G-A c.4613G>A p.Trp1538* Nonsense 34/57 - 1
17-29588851-C-G c.4637C>G p.Ser1546* Nonsense 34/57 - 3
17-29588854-AA-A c.4640del p.Lys1547Serfs*6 Frameshift 34/57 - 1
17-29588858-TT-T c.4644del p.Phe1548Leufs*5 Frameshift 34/57 - 1
17-29588862-G-T c.4648G>T p.Glu1550* Nonsense 34/57 - 1
17-29588867-TT-T c.4653del p.Phe1551Leufs*2 Frameshift 34/57 - 1
17-29592269-G-T c.4684G>T p.Glu1562* Nonsense 35/57 - 1
17-29592271-A-G c.4686A>G p.Glu1562Glu Synonymous 35/57 - 1
17-29592272-ATTCAA-A c.4687_4691del p.Phe1563Glyfs*36 Frameshift 35/57 - 1
17-29592276-AA-A c.4691del p.Lys1564Argfs*3 Frameshift 35/57 - 1
17-29592282-T-A c.4697T>A p.Leu1566* Nonsense 35/57 - 1
17-29592286-AAACGTTAA-A c.4701_4708del p.Thr1568Tyrfs*30 Frameshift 35/57 - 1
17-29592291-T-G c.4706T>G p.Leu1569* Nonsense 35/57 - 1
17-29592300-T-C c.4715T>C p.Phe1572Ser Missense 35/57 - 1
17-29592314-GA-G c.4729del p.Thr1577Leufs*26 Frameshift 35/57 - 1
17-29592319-CC-C c.4734del p.Ala1580Leufs*23 Frameshift 35/57 - 1
17-29592327-GGG-G c.4742_4743del p.Gly1581Glufs*19 Frameshift 35/57 - 1
17-29592328-GG-G c.4743del p.Asn1582Ilefs*21 Frameshift 35/57 - 1
17-29592328-G-GG c.4743dup p.Asn1582Glufs*19 Frameshift 35/57 - 1
17-29592341-T-TT c.4756dup p.Tyr1586Leufs*15 Frameshift 35/57 - 1
17-29592344-TTAT-T c.4759_4761del p.Tyr1587del InFrameDeletion 35/57 - 2
17-29592353-C-T c.4768C>T p.Arg1590Trp Missense 35/57 - 5
17-29602610-A-G c.4772+10253A>G - IntronicSNV - 35/56 1
17-29612657-G-A c.4772+20300G>A - IntronicSNV - 35/56 1
17-29613600-G-C c.4772+21243G>C - IntronicSNV - 35/56 1
17-29613600-G-A c.4772+21243G>A - IntronicSNV - 35/56 1
17-29621415-C-A c.4772+29058C>A - IntronicSNV - 35/56 1
17-29623288-C-T c.4773-29550C>T - IntronicSNV - 35/56 7
17-29625638-G-A c.4773-27200G>A - IntronicSNV - 35/56 2
17-29628549-C-A c.4773-24289C>A - IntronicSNV - 35/56 1
17-29629499-G-A c.4773-23339G>A - IntronicSNV - 35/56 1
17-29629499-G-T c.4773-23339G>T - IntronicSNV - 35/56 1
17-29635594-C-T c.4773-17244C>T - IntronicSNV - 35/56 1
17-29644852-G-A c.4773-7986G>A - IntronicSNV - 35/56 1
17-29646032-G-C c.4773-6806G>C - IntronicSNV - 35/56 1
17-29646032-G-A c.4773-6806G>A - IntronicSNV - 35/56 1
17-29650308-G-A c.4773-2530G>A - IntronicSNV - 35/56 1
17-29650656-A-G c.4773-2182A>G - IntronicSNV - 35/56 1
17-29652836-A-C c.4773-2A>C - IntronicSNV - 35/56 1
17-29652839-GTTCAA-G c.4774_4778del p.Phe1592Asnfs*7 SpliceAcceptorDeletion 36/57 - 1
17-29652845-AA-A c.4780del p.Thr1594Leufs*9 Frameshift 36/57 - 1
17-29652857-CAATGGTGA-C c.4792_4799del p.Asn1598Phefs*19 Frameshift 36/57 - 1
17-29652867-TG-GT c.4802_4803delinsGT p.Leu1601Cys Missense 36/57 - 1
17-29652867-TT-T c.4802del p.Leu1601Cysfs*2 Frameshift 36/57 - 2
17-29652870-T-C c.4805T>C p.Leu1602Pro Missense 36/57 - 1
17-29652874-A-AC c.4809_4810insC p.Tyr1604Leufs*16 Frameshift 36/57 - 1
17-29652877-C-A c.4812C>A p.Tyr1604* Nonsense 36/57 - 1
17-29652877-C-G c.4812C>G p.Tyr1604* Nonsense 36/57 - 1
17-29652886-TA-T c.4821del p.Leu1607Phefs*2 Frameshift 36/57 - 1
17-29652904-T-G c.4839T>G p.Tyr1613* Nonsense 36/57 - 1
17-29652904-T-A c.4839T>A p.Tyr1613* Nonsense 36/57 - 1
17-29652905-TTATGCAAAGCCATAT-T c.4840_4854del p.Tyr1614_Tyr1618del InFrameDeletion 36/57 - 1
17-29652917-ATAT-A c.4852_4854del p.Tyr1618del InFrameDeletion 36/57 - 1
17-29652926-GT-AG c.4861_4862delinsAG p.Val1621Arg Missense 36/57 - 1
17-29652932-G-C c.4867G>C p.Asp1623His Missense 36/57 - 1
17-29652933-A-T c.4868A>T p.Asp1623Val Missense 36/57 - 2
17-29652938-A-AA c.4873dup p.Thr1625Asnfs*6 Frameshift 36/57 - 1
17-29652968-AA-A c.4903del p.Thr1635Glnfs*42 Frameshift 36/57 - 1
17-29652970-A-AA c.4905dup p.Asp1636Argfs*5 Frameshift 36/57 - 1
17-29652983-TAAGT-T c.4918_4921del p.Lys1640Glyfs*36 Frameshift 36/57 - 1
17-29652988-G-A c.4923G>A p.Trp1641* Nonsense 36/57 - 1
17-29652987-G-A c.4922G>A p.Trp1641* Nonsense 36/57 - 1
17-29652994-T-TA c.4929_4930insA p.Val1644Serfs*17 Frameshift 36/57 - 1
17-29653014-A-AA c.4949dup p.Tyr1650* Nonsense 36/57 - 1
17-29653015-C-A c.4950C>A p.Tyr1650* Nonsense 36/57 - 1
17-29653028-G-A c.4963G>A p.Ala1655Thr Missense 36/57 - 1
17-29653037-A-G c.4972A>G p.Ile1658Val Missense 36/57 - 1
17-29653038-ATCTATA-A c.4973_4978del p.Ile1658_Tyr1659del InFrameDeletion 36/57 - 1
17-29653040-CTAT-C c.4975_4977del p.Tyr1659del InFrameDeletion 36/57 - 1
17-29653044-AACTGTAA-A c.4979_4985del p.Asn1660Thrfs*15 Frameshift 36/57 - 1
17-29653049-A-T c.4984A>T p.Asn1662Tyr Missense 36/57 - 1
17-29653051-C-G c.4986C>G p.Asn1662Lys Missense 36/57 - 1
17-29653051-C-A c.4986C>A p.Asn1662Lys Missense 36/57 - 1
17-29653064-G-T c.4999G>T p.Glu1667* Nonsense 36/57 - 1
17-29653068-A-ATG c.5003_5004insTG p.Thr1669Alafs*9 Frameshift 36/57 - 1
17-29653073-AA-GC c.5008_5009delinsGC p.Lys1670Ala Missense 36/57 - 1
17-29653075-AG-A c.5010del p.Lys1670Asnfs*7 Frameshift 36/57 - 1
17-29653082-G-T c.5017G>T p.Glu1673* Nonsense 36/57 - 1
17-29653091-GCTGACTG-G c.5026_5032del p.Leu1676Alafs*11 Frameshift 36/57 - 1
17-29653118-C-T c.5053C>T p.Leu1685Phe Missense 36/57 - 1
17-29653133-TG-AC c.5068_5069delinsAC p.Cys1690Thr Missense 36/57 - 1
17-29653146-T-C c.5081T>C p.Leu1694Pro Missense 36/57 - 1
17-29653162-G-T c.5097G>T p.Glu1699Asp Missense 36/57 - 1
17-29653162-G-C c.5097G>C p.Glu1699Asp Missense 36/57 - 1
17-29653182-C-G c.5117C>G p.Pro1706Arg Missense 36/57 - 1
17-29653196-G-C c.5131G>C p.Ala1711Pro Missense 36/57 - 1
17-29653214-A-T c.5149A>T p.Lys1717* Nonsense 36/57 - 1
17-29653219-A-AA c.5154dup p.Phe1719Ilefs*17 Frameshift 36/57 - 1
17-29653227-A-G c.5162A>G p.Asn1721Ser Missense 36/57 - 1
17-29653237-G-A c.5172G>A p.Lys1724Lys Synonymous 36/57 - 2
17-29653258-A-AA c.5193dup p.Val1732Serfs*4 Frameshift 36/57 - 1
17-29653264-CTATTAAA-C c.5199_5205del p.Ile1734Leufs*8 SpliceDonorDeletion 36/57 - 1
17-29653268-A-T c.5203A>T p.Lys1735* Nonsense 36/57 - 1
17-29654516-G-T c.5206-1G>T - IntronicSNV - 36/56 1
17-29654518-GTTG-G c.5207_5209del p.Val1736del InFrameDeletion 37/57 - 1
17-29654535-C-T c.5224C>T p.Gln1742* Nonsense 37/57 - 1
17-29654536-A-G c.5225A>G p.Gln1742Arg Missense 37/57 - 1
17-29654538-G-C c.5227G>C p.Val1743Leu Missense 37/57 - 1
17-29654545-C-A c.5234C>A p.Ser1745* Nonsense 37/57 - 2
17-29654545-C-G c.5234C>G p.Ser1745* Nonsense 37/57 - 2
17-29654553-CG-GC c.5242_5243delinsGC p.Arg1748Ala Missense 37/57 - 1
17-29654553-C-T c.5242C>T p.Arg1748* Nonsense 37/57 - 7
17-29654559-AA-GC c.5248_5249delinsGC p.Lys1750Ala Missense 37/57 - 1
17-29654575-C-A c.5264C>A p.Ser1755* Nonsense 37/57 - 2
17-29654575-C-G c.5264C>G p.Ser1755* Nonsense 37/57 - 2
17-29654601-G-T c.5290G>T p.Ala1764Ser Missense 37/57 - 1
17-29654629-GTAG-G c.5318_5320del p.Val1773del InFrameDeletion 37/57 - 1
17-29654640-C-T c.5329C>T p.Gln1777* Nonsense 37/57 - 1
17-29654650-T-G c.5339T>G p.Leu1780* Nonsense 37/57 - 1
17-29654650-T-A c.5339T>A p.Leu1780* Nonsense 37/57 - 1
17-29654664-C-T c.5353C>T p.Gln1785* Nonsense 37/57 - 1
17-29654671-C-T c.5360C>T p.Thr1787Met Missense 37/57 - 2
17-29654676-C-G c.5365C>G p.Leu1789Val Missense 37/57 - 1
17-29654697-TG-AC c.5386_5387delinsAC p.Cys1796Thr Missense 37/57 - 1
17-29654704-C-G c.5393C>G p.Ala1798Gly Missense 37/57 - 1
17-29654709-TGTCCAGTCT-T c.5398_5406del p.Val1800_Ser1802del InFrameDeletion 37/57 - 1
17-29654710-GTCCAGT-G c.5399_5404del p.Val1800_Ser1802delinsAla MultiAAMissense 37/57 - 1
17-29654712-C-T c.5401C>T p.Gln1801* Nonsense 37/57 - 2
17-29654716-C-T c.5405C>T p.Ser1802Phe Missense 37/57 - 1
17-29654717-T-TT c.5406dup p.Ile1803Tyrfs*38 Frameshift 37/57 - 1
17-29654718-A-G c.5407A>G p.Ile1803Val Missense 37/57 - 1
17-29654736-C-G c.5425C>G p.Arg1809Gly Missense 37/57 - 2
17-29654736-C-T c.5425C>T p.Arg1809Cys Missense 37/57 - 26
17-29654736-C-A c.5425C>A p.Arg1809Ser Missense 37/57 - 2
17-29654736-CC-C c.5425del p.Arg1809Alafs*33 Frameshift 37/57 - 1
17-29654737-G-T c.5426G>T p.Arg1809Leu Missense 37/57 - 4
17-29654737-G-A c.5426G>A p.Arg1809His Missense 37/57 - 1
17-29654737-G-C c.5426G>C p.Arg1809Pro Missense 37/57 - 4
17-29654739-CT-C c.5428del p.Trp1810Glyfs*32 Frameshift 37/57 - 1
17-29654740-G-A c.5429G>A p.Trp1810* Nonsense 37/57 - 1
17-29654746-T-C c.5435T>C p.Leu1812Pro Missense 37/57 - 1
17-29654748-T-C c.5437T>C p.Ser1813Pro Missense 37/57 - 1
17-29654761-C-G c.5450C>G p.Ser1817Cys Missense 37/57 - 1
17-29654763-TAT-T c.5452_5453del p.Ile1818Profs*22 Frameshift 37/57 - 2
17-29654764-AT-A c.5453del p.Ile1818Thrfs*24 Frameshift 37/57 - 1
17-29654769-C-T c.5458C>T p.Gln1820* Nonsense 37/57 - 1
17-29654784-C-T c.5473C>T p.Arg1825Trp Missense 37/57 - 1
17-29654793-G-T c.5482G>T p.Asp1828Tyr Missense 37/57 - 1
17-29654794-A-T c.5483A>T p.Asp1828Val Missense 37/57 - 1
17-29654799-C-T c.5488C>T p.Pro1830Ser Missense 37/57 - 1
17-29654800-C-T c.5489C>T p.Pro1830Leu Missense 37/57 - 1
17-29654809-T-C c.5498T>C p.Leu1833Pro Missense 37/57 - 1
17-29654824-TTA-T c.5513_5514del p.Leu1838Serfs*2 Frameshift 37/57 - 1
17-29654827-T-TC c.5516_5517insC p.Asn1840* Nonsense 37/57 - 1
17-29654854-T-A c.5543T>A p.Leu1848* Nonsense 37/57 - 2
17-29654856-C-A c.5545C>A p.Arg1849Arg Synonymous 37/57 - 2
17-29654856-C-G c.5545C>G p.Arg1849Gly Missense 37/57 - 1
17-29654857-G-T c.5546G>T p.Arg1849Leu Missense 37/57 - 1
17-29654857-G-A c.5546G>A p.Arg1849Gln Missense 37/57 - 6
17-29654862-G-A c.5546+5G>A - IntronicSNV - 37/56 2
17-29657316-TCAGCTGCC-T c.5549_5556del p.Ser1850Leufs*2 Frameshift 38/57 - 1
17-29657330-C-A c.5563C>A p.Leu1855Ile Missense 38/57 - 1
17-29657368-C-T c.5601C>T p.Ile1867Ile Synonymous 38/57 - 1
17-29657375-C-T c.5608C>T p.Gln1870* Nonsense 38/57 - 1
17-29657397-T-A c.5630T>A p.Leu1877* Nonsense 38/57 - 1
17-29657443-G-C c.5676G>C p.Lys1892Asn Missense 38/57 - 1
17-29657443-G-T c.5676G>T p.Lys1892Asn Missense 38/57 - 1
17-29657448-T-G c.5681T>G p.Leu1894Arg Missense 38/57 - 1
17-29657472-C-G c.5705C>G p.Thr1902Arg Missense 38/57 - 1
17-29657472-C-A c.5705C>A p.Thr1902Lys Missense 38/57 - 1
17-29657472-C-T c.5705C>T p.Thr1902Met Missense 38/57 - 1
17-29657477-G-T c.5710G>T p.Glu1904* Nonsense 38/57 - 2
17-29657486-G-T c.5719G>T p.Glu1907* Nonsense 38/57 - 3
17-29657492-T-C c.5725T>C p.Cys1909Arg Missense 38/57 - 1
17-29657497-T-C c.5730T>C p.Ile1910Ile Synonymous 38/57 - 1
17-29657498-TT-T c.5731del p.Ser1911Leufs*10 Frameshift 38/57 - 2
17-29657506-TT-T c.5739del p.Phe1913Leufs*8 Frameshift 38/57 - 1
17-29657521-G-A c.5749+5G>A - IntronicSNV - 38/56 1
17-29657848-A-G c.5749+332A>G - IntronicSNV - 38/56 2
17-29659430-C-T c.5749+1914C>T - IntronicSNV - 38/56 1
17-29661858-A-C c.5752A>C p.Ile1918Leu Missense 39/57 - 1
17-29661870-C-T c.5764C>T p.His1922Tyr Missense 39/57 - 1
17-29661878-GTTTG-G c.5772_5775del p.Cys1924Trpfs*4 Frameshift 39/57 - 1
17-29661880-TT-T c.5774del p.Leu1925Trpfs*4 Frameshift 39/57 - 1
17-29661895-CC-C c.5789del p.Pro1930Hisfs*6 Frameshift 39/57 - 1
17-29661897-T-C c.5791T>C p.Trp1931Arg Missense 39/57 - 2
17-29661901-T-C c.5795T>C p.Leu1932Pro Missense 39/57 - 1
17-29661923-C-A c.5817C>A p.Cys1939* Nonsense 39/57 - 2
17-29661945-C-T c.5839C>T p.Arg1947* Nonsense 39/57 - 15
17-29661948-C-T c.5842C>T p.Gln1948* Nonsense 39/57 - 1
17-29661953-GAG-G c.5847_5848del p.Arg1949Serfs*6 Frameshift 39/57 - 1
17-29661961-C-T c.5855C>T p.Ala1952Val Missense 39/57 - 1
17-29661968-T-C c.5862T>C p.Leu1954Leu Synonymous 39/57 - 1
17-29661968-T-G c.5862T>G p.Leu1954Leu Synonymous 39/57 - 1
17-29661968-T-A c.5862T>A p.Leu1954Leu Synonymous 39/57 - 1
17-29661976-T-C c.5870T>C p.Leu1957Pro Missense 39/57 - 1
17-29661994-A-C c.5888A>C p.Asn1963Thr Missense 39/57 - 1
17-29662000-A-ACA c.5894_5895insCA p.Lys1965Asnfs*27 Frameshift 39/57 - 1
17-29662002-C-T c.5896C>T p.Gln1966* Nonsense 39/57 - 1
17-29662016-T-TT c.5910dup p.Ile1971Tyrfs*17 Frameshift 39/57 - 1
17-29662033-G-A c.5927G>A p.Trp1976* Nonsense 39/57 - 4
17-29662044-G-A c.5938G>A p.Gly1980Arg Missense 39/57 - 1
17-29662044-G-C c.5938G>C p.Gly1980Arg Missense 39/57 - 1
17-29662047-C-T c.5941C>T p.Gln1981* Nonsense 39/57 - 1
17-29662049-G-A c.5943G>A p.Gln1981Gln Synonymous 39/57 - 1
17-29663396-A-C c.5989A>C p.Ser1997Arg Missense 40/57 - 1
17-29663399-G-C c.5992G>C p.Ala1998Pro Missense 40/57 - 1
17-29663400-C-CC c.5993dup p.Thr1999Asnfs*10 Frameshift 40/57 - 1
17-29663412-T-A c.6005T>A p.Leu2002* Nonsense 40/57 - 1
17-29663417-T-C c.6010T>C p.Ser2004Pro Missense 40/57 - 1
17-29663463-TCT-T c.6056_6057del p.Ser2019Trpfs*19 Frameshift 40/57 - 2
17-29663463-C-CC c.6056dup p.Gly2020Trpfs*19 Frameshift 40/57 - 1
17-29663492-G-A c.6084+1G>A - IntronicSNV - 40/56 1
17-29663651-A-T c.6085-2A>T - IntronicSNV - 40/56 1
17-29663652-G-A c.6085-1G>A - IntronicSNV - 40/56 1
17-29663653-G-T c.6085G>T p.Val2029Phe Missense 41/57 - 1
17-29663668-TG-GC c.6100_6101delinsGC p.Cys2034Ala Missense 41/57 - 1
17-29663670-C-A c.6102C>A p.Cys2034* Nonsense 41/57 - 1
17-29663689-TG-AC c.6121_6122delinsAC p.Cys2041Thr Missense 41/57 - 1
17-29663705-C-G c.6137C>G p.Pro2046Arg Missense 41/57 - 1
17-29663718-AACAT-A c.6150_6153del p.Gln2050Hisfs*10 Frameshift 41/57 - 1
17-29663768-T-C c.6200T>C p.Leu2067Pro Missense 41/57 - 1
17-29663795-GC-G c.6227del p.Ala2076Glufs*14 Frameshift 41/57 - 1
17-29663811-C-G c.6243C>G p.Tyr2081* Nonsense 41/57 - 1
17-29663811-C-A c.6243C>A p.Tyr2081* Nonsense 41/57 - 1
17-29663857-C-CA c.6289_6290insA p.Leu2097Hisfs*2 Frameshift 41/57 - 1
17-29663860-TAGAGCTTCCACACATGGACTGGTCATTAATA-T c.6292_6322del p.Arg2098Serfs*21 Frameshift 41/57 - 1
17-29663864-C-A c.6296C>A p.Ala2099Asp Missense 41/57 - 1
17-29663875-G-C c.6307G>C p.Gly2103Arg Missense 41/57 - 1
17-29663875-G-A c.6307G>A p.Gly2103Arg Missense 41/57 - 1
17-29663894-ATTCA-A c.6326_6329del p.Ile2109Thrfs*19 Frameshift 41/57 - 1
17-29663903-T-C c.6335T>C p.Leu2112Pro Missense 41/57 - 1
17-29663930-AG-A c.6362del p.Ser2121Metfs*8 Frameshift 41/57 - 1
17-29663932-G-A c.6364G>A p.Glu2122Lys Missense 41/57 - 1
17-29663933-GG-G c.6364+1del - Frameshift - 41/56 1
17-29663934-T-G c.6364+2T>G - IntronicSNV - 41/56 1
17-29664424-T-TGA c.6403_6404insGA p.Phe2135* Nonsense 42/57 - 1
17-29664428-TC-T c.6407del p.Ser2136Tyrfs*43 Frameshift 42/57 - 1
17-29664431-TT-T c.6410del p.Leu2137Tyrfs*42 Frameshift 42/57 - 1
17-29664460-AGC-TAG c.6439_6441delinsTAG p.Ser2147* Missense 42/57 - 1
17-29664465-AA-A c.6444del p.Val2149Serfs*30 Frameshift 42/57 - 1
17-29664469-A-T c.6448A>T p.Lys2150* Nonsense 42/57 - 1
17-29664493-C-T c.6472C>T p.Arg2158Cys Missense 42/57 - 1
17-29664499-A-G c.6478A>G p.Ser2160Gly Missense 42/57 - 1
17-29664504-C-G c.6483C>G p.Tyr2161* Nonsense 42/57 - 1
17-29664533-A-AC c.6512_6513insC p.Glu2172* Nonsense 42/57 - 1
17-29664534-T-A c.6513T>A p.Tyr2171* Nonsense 42/57 - 4
17-29664549-TT-T c.6528del p.Phe2176Leufs*3 Frameshift 42/57 - 1
17-29664575-C-G c.6554C>G p.Thr2185Arg Missense 42/57 - 1
17-29664601-G-A c.6579+1G>A - IntronicSNV - 42/56 1
17-29664602-T-C c.6579+2T>C - IntronicSNV - 42/56 1
17-29664840-T-G c.6583T>G p.Cys2195Gly Missense 43/57 - 1
17-29664863-C-A c.6606C>A p.Cys2202* Nonsense 43/57 - 1
17-29664868-G-A c.6611G>A p.Trp2204* Nonsense 43/57 - 1
17-29664869-G-A c.6612G>A p.Trp2204* Nonsense 43/57 - 1
17-29664876-C-T c.6619C>T p.Gln2207* Nonsense 43/57 - 1
17-29664877-CAGTGGACA-C c.6620_6627del p.Gln2207Argfs*11 Frameshift 43/57 - 1
17-29664897-A-T c.6640A>T p.Arg2214* Nonsense 43/57 - 1
17-29665038-TT-T c.6642-5del - IntronicDeletion - 43/56 1
17-29665043-A-AA c.6642dup p.Phe2215Ilefs*6 SpliceAcceptorInsertion 44/57 - 1
17-29665043-A-AC c.6642_6643insC p.Phe2215Leufs*6 SpliceAcceptorInsertion 44/57 - 1
17-29665043-A-AG c.6642_6643insG p.Phe2215Valfs*6 SpliceAcceptorInsertion 44/57 - 1
17-29665046-TT-T c.6645del p.Phe2215Leufs*29 Frameshift 44/57 - 1
17-29665088-TTGT-T c.6687_6689del p.Val2230del InFrameDeletion 44/57 - 1
17-29665089-TG-T c.6688del p.Val2230Serfs*14 Frameshift 44/57 - 1
17-29665110-C-T c.6709C>T p.Arg2237* Nonsense 44/57 - 4
17-29665120-A-AGCAAACGAGTGTCTTCA c.6719_6720insGCAAACGAGTGTCTTCA p.His2240Glnfs*10 Frameshift 44/57 - 1
17-29665125-C-T c.6724C>T p.Gln2242* Nonsense 44/57 - 1
17-29665155-A-T c.6754A>T p.Lys2252* Nonsense 44/57 - 1
17-29665156-A-G c.6755A>G p.Lys2252Arg Missense 44/57 - 2
17-29665158-G-T c.6756+1G>T - IntronicSNV - 44/56 1
17-29665160-A-G c.6756+3A>G - IntronicSNV - 44/56 1
17-29665168-C-T c.6756+11C>T - IntronicSNV - 44/56 1
17-29665722-G-T c.6757G>T p.Ala2253Ser Missense 45/57 - 1
17-29665723-GCACTTGAGAGTTGCTTAAAAGGACCTGACACTTACAACAGTCAAGTTCTGATAGAAGCT-G c.6758_6816del p.Ala2253Aspfs*13 InFrameDeletion 45/57 - 1
17-29665727-TTGAGAGTTGCTTAAAAGGACCT-T c.6762_6783del p.Glu2255Thrfs*8 Frameshift 45/57 - 1
17-29665728-G-T c.6763G>T p.Glu2255* Nonsense 45/57 - 1
17-29665735-G-GG c.6770dup p.Cys2257Trpfs*6 Frameshift 45/57 - 1
17-29665746-C-CTT c.6781_6782insTT p.Pro2261Leufs*10 Frameshift 45/57 - 1
17-29665747-C-T c.6782C>T p.Pro2261Leu Missense 45/57 - 1
17-29665754-CTTAC-C c.6789_6792del p.Tyr2264Thrfs*5 Frameshift 45/57 - 4
17-29665755-TTACAACAGTCAAGTTCT-T c.6790_6806del p.Tyr2264Aspfs*16 Frameshift 45/57 - 2
17-29665756-A-AA c.6791dup p.Tyr2264* Nonsense 45/57 - 5
17-29665757-C-A c.6792C>A p.Tyr2264* Nonsense 45/57 - 15
17-29665757-C-G c.6792C>G p.Tyr2264* Nonsense 45/57 - 11
17-29665759-A-AA c.6794dup p.Asn2265Lysfs*21 Frameshift 45/57 - 1
17-29665759-A-AGAAAAGCAAA c.6794_6795insGAAAAGCAAA p.Asn2265Lysfs*24 Frameshift 45/57 - 1
17-29665798-ACCAAATTACAGCCACTTCTTAATAAGGTAATTACTGTATAGAAAATGAGTGCATTCATT-A c.6833_6858+33del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 45/57 45/56 1
17-29665806-C-T c.6841C>T p.Gln2281* Nonsense 45/57 - 2
17-29665819-A-AA c.6854dup p.Asn2285Lysfs*2 Frameshift 45/57 - 4
17-29665821-TAAG-T c.6856_6858del p.Lys2286del InFrameDeletion 45/57 - 1
17-29666588-T-C c.6858+765T>C - IntronicSNV - 45/56 1
17-29667545-CT-C c.6881del p.Leu2294Profs*4 Frameshift 46/57 - 1
17-29667545-T-G c.6881T>G p.Leu2294Arg Missense 46/57 - 1
17-29667565-TGTG-T c.6901_6903del p.Val2301del InFrameDeletion 46/57 - 1
17-29667568-C-T c.6904C>T p.Leu2302Leu Synonymous 46/57 - 1
17-29667571-C-T c.6907C>T p.Gln2303* Nonsense 46/57 - 1
17-29667611-T-C c.6947T>C p.Leu2316Pro Missense 46/57 - 1
17-29667614-T-C c.6950T>C p.Leu2317Pro Missense 46/57 - 3
17-29667619-C-T c.6955C>T p.Gln2319* Nonsense 46/57 - 1
17-29667638-GATAG-G c.6974_6977del p.Asp2325Valfs*49 Frameshift 46/57 - 1
17-29667646-C-T c.6982C>T p.Arg2328Cys Missense 46/57 - 1
17-29667657-ATGACAAGGTAAGCAAACTTTGCCTTGAGGTTCCTAGATTACTCAAATTTAGTACTCTTC-A c.6993_6999+52del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 46/57 46/56 1
17-29670076-TGCAAGCAAATGGATCA-T c.7049_7064del p.Cys2350Phefs*20 Frameshift 47/57 - 1
17-29670107-T-TGG c.7080_7081insGG p.Phe2361Glyfs*15 Frameshift 47/57 - 1
17-29670110-C-G c.7083C>G p.Phe2361Leu Missense 47/57 - 1
17-29670108-T-TCC c.7081_7082insCC p.Phe2361Serfs*15 Frameshift 47/57 - 1
17-29670108-T-TAGGGGCCC c.7081_7082insAGGGGCCC p.Phe2361* Nonsense 47/57 - 1
17-29670108-T-C c.7081T>C p.Phe2361Leu Missense 47/57 - 1
17-29670110-C-A c.7083C>A p.Phe2361Leu Missense 47/57 - 1
17-29670110-C-T c.7083C>T p.Phe2361Phe Synonymous 47/57 - 1
17-29670111-A-AGA c.7084_7085insGA p.Asn2362Argfs*14 Frameshift 47/57 - 1
17-29670113-C-A c.7086C>A p.Asn2362Lys Missense 47/57 - 1
17-29670113-C-G c.7086C>G p.Asn2362Lys Missense 47/57 - 1
17-29670117-AAC-TAA c.7090_7092delinsTAA p.Asn2364* Nonsense 47/57 - 1
17-29670123-TAACTTT-T c.7096_7101del p.Asn2366_Phe2367del InFrameDeletion 47/57 - 2
17-29670126-CTTT-C c.7099_7101del p.Phe2367del InFrameDeletion 47/57 - 3
17-29670133-T-C c.7106T>C p.Leu2369Ser Missense 47/57 - 1
17-29670152-A-C c.7125A>C p.Lys2375Asn Missense 47/57 - 1
17-29670152-AA-A c.7125del p.Tyr2377Thrfs*20 Frameshift 47/57 - 1
17-29670152-A-T c.7125A>T p.Lys2375Asn Missense 47/57 - 1
17-29670153-G-A c.7126G>A p.Gly2376Arg Missense 47/57 - 1
17-29670190-C-G c.7126+37C>G - IntronicSNV - 47/56 2
17-29676148-ATCCTTCA-A c.7137_7143del p.Pro2380Leufs*15 Frameshift 48/57 - 1
17-29676162-ATTGTTGCAAGA-A c.7151_7161del p.Ile2384Asnfs*13 Frameshift 48/57 - 1
17-29676163-TTGTTGC-T c.7152_7157del p.Val2385_Ala2386del InFrameDeletion 48/57 - 1
17-29676166-TT-T c.7155del p.Ala2386Glnfs*11 Frameshift 48/57 - 1
17-29676170-AAGAACA-A c.7159_7164del p.Arg2387_Thr2388del InFrameDeletion 48/57 - 1
17-29676180-AG-A c.7169del p.Arg2390Lysfs*7 Frameshift 48/57 - 2
17-29676195-T-C c.7184T>C p.Leu2395Pro Missense 48/57 - 1
17-29676203-C-A c.7192C>A p.Leu2398Met Missense 48/57 - 1
17-29676204-T-TCC c.7193_7194insCC p.Val2399Argfs*13 Frameshift 48/57 - 1
17-29676204-T-TAGAATAATA c.7193_7194insAGAATAATA p.Leu2398_Val2399insGlu* Frameshift 48/57 - 1
17-29676204-T-TAGGG c.7193_7194insAGGG p.Val2399Glyfs*3 Frameshift 48/57 - 1
17-29676205-G-GAGGG c.7194_7195insAGGG p.Val2399Argfs*3 Frameshift 48/57 - 1
17-29676217-C-G c.7206C>G p.His2402Gln Missense 48/57 - 1
17-29676217-C-A c.7206C>A p.His2402Gln Missense 48/57 - 1
17-29676217-ACA-A c.7206_7207del p.His2402Glnfs*4 Frameshift 48/57 - 1
17-29676243-A-AA c.7232dup p.Asn2411Lysfs*16 Frameshift 48/57 - 1
17-29676248-C-T c.7237C>T p.Gln2413* Nonsense 48/57 - 4
17-29676248-ACAGAGCGTGGCCTACTT-A c.7237_7253del p.Gln2413Serfs*8 Frameshift 48/57 - 1
17-29676251-A-T c.7240A>T p.Ser2414Cys Missense 48/57 - 1
17-29676269-G-C c.7258G>C p.Ala2420Pro Missense 48/57 - 1
17-29677201-C-A c.7259C>A p.Ala2420Asp Missense 49/57 - 1
17-29677208-TTA-T c.7266_7267del p.Thr2423Serfs*3 Frameshift 49/57 - 1
17-29677209-A-AA c.7267dup p.Thr2423Asnfs*4 Frameshift 49/57 - 4
17-29677214-TGT-T c.7272_7273del p.Ser2425* Frameshift 49/57 - 1
17-29677227-C-T c.7285C>T p.Arg2429* Nonsense 49/57 - 4
17-29677233-C-T c.7291C>T p.Arg2431Cys Missense 49/57 - 1
17-29677266-TC-T c.7324del p.Thr2443Leufs*25 Frameshift 49/57 - 1
17-29677287-AAA-A c.7345_7346del p.Asn2449Cysfs*12 Frameshift 49/57 - 1
17-29677317-C-A c.7375C>A p.His2459Asn Missense 49/57 - 1
17-29677327-CCTTCCTATAG-C c.7385_7394del p.Pro2462Argfs*3 SpliceDonorDeletion 49/57 - 1
17-29677335-A-G c.7393A>G p.Arg2465Gly Missense 49/57 - 1
17-29679246-G-A c.7395-29G>A - IntronicSNV - 49/56 1
17-29679246-G-C c.7395-29G>C - IntronicSNV - 49/56 1
17-29679258-T-G c.7395-17T>G - IntronicSNV - 49/56 1
17-29679273-A-G c.7395-2A>G - IntronicSNV - 49/56 2
17-29679277-ACACTAAAGGA-A c.7397_7406del p.Thr2466Argfs*33 SpliceAcceptorDeletion 50/57 - 1
17-29679304-CT-AA c.7424_7425delinsAA p.Ser2475* Nonsense 50/57 - 1
17-29679313-G-GG c.7433dup p.Ser2479Phefs*2 Frameshift 50/57 - 1
17-29679318-TG-T c.7438del p.Glu2480Lysfs*22 Frameshift 50/57 - 1
17-29679329-TT-T c.7449del p.Ala2484Glnfs*18 Frameshift 50/57 - 1
17-29679330-TGCAGCCACCT-T c.7450_7459del p.Ala2484Ilefs*15 Frameshift 50/57 - 1
17-29679338-CC-C c.7458del p.Tyr2487Ilefs*15 Frameshift 50/57 - 1
17-29679354-C-T c.7474C>T p.Gln2492* Nonsense 50/57 - 1
17-29679366-C-T c.7486C>T p.Arg2496* Nonsense 50/57 - 5
17-29679371-C-CT c.7491_7492insT p.Arg2498* Nonsense 50/57 - 1
17-29679399-GC-G c.7519del p.Gln2507Asnfs*20 Frameshift 50/57 - 1
17-29679399-C-T c.7519C>T p.Gln2507* Nonsense 50/57 - 1
17-29679412-C-T c.7532C>T p.Ala2511Val Missense 50/57 - 2
17-29679432-G-T c.7552G>T p.Gly2518* Nonsense 50/57 - 1
17-29679861-G-T c.7552+429G>T - IntronicSNV - 50/56 1
17-29679861-G-A c.7552+429G>A - IntronicSNV - 50/56 1
17-29681245-A-G c.7552+1813A>G - IntronicSNV - 50/56 1
17-29683520-C-T c.7595C>T p.Ala2532Val Missense 51/57 - 2
17-29683525-TAAAAGGCAAGAAATGGAATCAG-T c.7600_7621del p.Lys2534Glyfs*8 Frameshift 51/57 - 2
17-29683573-A-T c.7648A>T p.Arg2550* Nonsense 51/57 - 1
17-29683597-AATG-A c.7672_7674del p.Met2558del InFrameDeletion 51/57 - 1
17-29683976-A-T c.7676-2A>T - IntronicSNV - 51/56 1
17-29683989-GA-G c.7687del p.Ile2563Phefs*40 Frameshift 52/57 - 2
17-29683996-C-G c.7694C>G p.Ser2565* Nonsense 52/57 - 1
17-29684001-C-T c.7699C>T p.Gln2567* Nonsense 52/57 - 1
17-29684003-A-G c.7701A>G p.Gln2567Gln Synonymous 52/57 - 1
17-29684004-C-T c.7702C>T p.Gln2568* Nonsense 52/57 - 3
17-29684020-G-T c.7718G>T p.Arg2573Leu Missense 52/57 - 1
17-29684029-C-A c.7727C>A p.Ser2576* Nonsense 52/57 - 3
17-29684032-T-G c.7730T>G p.Val2577Gly Missense 52/57 - 1
17-29684058-G-T c.7756G>T p.Glu2586* Nonsense 52/57 - 1
17-29684080-AA-A c.7778del p.Lys2593Argfs*10 Frameshift 52/57 - 2
17-29684089-C-T c.7787C>T p.Ala2596Val Missense 52/57 - 1
17-29684098-CTT-C c.7796_7797del p.Leu2599Hisfs*13 Frameshift 52/57 - 1
17-29684110-T-C c.7806+2T>C - IntronicSNV - 52/56 1
17-29684290-AC-TA c.7810_7811delinsTA p.Thr2604* Nonsense 53/57 - 1
17-29684326-C-T c.7846C>T p.Arg2616* Nonsense 53/57 - 5
17-29684327-G-A c.7847G>A p.Arg2616Gln Missense 53/57 - 1
17-29684347-AG-A c.7867del p.Ala2623Glnfs*35 Frameshift 53/57 - 1
17-29684388-G-A c.7907+1G>A - IntronicSNV - 53/56 1
17-29684390-A-T c.7907+3A>T - IntronicSNV - 53/56 1
17-29685150-A-G c.7908-348A>G - IntronicSNV - 53/56 1
17-29685177-C-G c.7908-321C>G - IntronicSNV - 53/56 1
17-29685505-TTG-ATC c.7915_7917delinsATC p.Leu2639Ile Missense 54/57 - 1
17-29685510-G-GT c.7920_7921insT p.Asp2641* Nonsense 54/57 - 1
17-29685515-TC-T c.7925del p.Ser2642Leufs*16 Frameshift 54/57 - 1
17-29685584-A-G c.7994A>G p.Gln2665Arg Missense 54/57 - 1
17-29685625-A-T c.8035A>T p.Thr2679Ser Missense 54/57 - 1
17-29685635-CT-C c.8045del p.Leu2682Argfs*36 Frameshift 54/57 - 1
17-29685905-A-G c.8051-82A>G - IntronicSNV - 54/56 1
17-29685917-A-T c.8051-70A>T - IntronicSNV - 54/56 1
17-29686016-GC-TA c.8080_8081delinsTA p.Ala2694* Nonsense 55/57 - 1
17-29686023-C-T c.8087C>T p.Pro2696Leu Missense 55/57 - 2
17-29687520-AG-A c.8113del p.Asp2705Thrfs*13 Frameshift 56/57 - 1
17-29687540-T-TT c.8133dup p.Lys2712* Nonsense 56/57 - 1
17-29687632-C-T c.8225C>T p.Pro2742Leu Missense 56/57 - 1
17-29687652-C-T c.8245C>T p.Leu2749Phe Missense 56/57 - 1
17-29688189-C-T c.8314+468C>T - IntronicSNV - 56/56 1
17-29691368-C-A c.8314+3647C>A - IntronicSNV - 56/56 2
17-29696785-A-G c.8315-4246A>G - IntronicSNV - 56/56 1
17-29696951-A-G c.8315-4080A>G - IntronicSNV - 56/56 1
17-29697223-A-T c.8315-3808A>T - IntronicSNV - 56/56 2
17-29699416-T-C c.8315-1615T>C - IntronicSNV - 56/56 1
17-29700816-T-A c.8315-215T>A - IntronicSNV - 56/56 1
17-29700816-T-C c.8315-215T>C - IntronicSNV - 56/56 1
17-29701033-AATCGACAAGGAGAA-A c.8317_8330del p.Ile2773Argfs*2 Frameshift 57/57 - 1
17-29701152-T-C c.8436T>C p.Asn2812Asn Synonymous 57/57 - 1
17-29703438-C-G c.*2265C>G - 3-UTRSNV 57/57 - 1
17-29704002-T-C c.*2829T>C - 3-UTRSNV 57/57 - 1