GAA alpha glucosidase

Annotation transcript: NM_000152.5

1490 unique variant annotations were identified in 778 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
17-78075384-C-G c.-338C>G - 5_prime_UTR_variant 1/20 - 1
17-78075462-G-A c.-260G>A - 5_prime_UTR_variant 1/20 - 1
17-78075462-G-C c.-260G>C - 5_prime_UTR_variant 1/20 - 1
17-78075647-C-A c.-75C>A - 5_prime_UTR_variant 1/20 - 1
17-78075647-C-G c.-75C>G - 5_prime_UTR_variant 1/20 - 1
17-78075647-C-T c.-75C>T - 5_prime_UTR_variant 1/20 - 1
17-78075908-G-A c.-33+219G>A - intron_variant - 1/19 1
17-78075908-G-C c.-33+219G>C - intron_variant - 1/19 1
17-78076005-C-A c.-33+316C>A - intron_variant - 1/19 1
17-78076006-C-T c.-33+317C>T - intron_variant - 1/19 1
17-78076360-A-C c.-33+671A>C - intron_variant - 1/19 1
17-78076446-G-A c.-33+757G>A - intron_variant - 1/19 1
17-78076446-G-C c.-33+757G>C - intron_variant - 1/19 1
17-78076592-A-C c.-33+903A>C - intron_variant - 1/19 2
17-78076793-A-G c.-33+1104A>G - intron_variant - 1/19 1
17-78076861-G-A c.-33+1172G>A - intron_variant - 1/19 1
17-78076879-G-T c.-33+1190G>T - intron_variant - 1/19 1
17-78076998-T-C c.-33+1309T>C - intron_variant - 1/19 1
17-78077056-G-C c.-32-1298G>C - IntronicSNV - 1/19 1
17-78077056-G-T c.-32-1298G>T - IntronicSNV - 1/19 1
17-78077230-C-T c.-32-1124C>T - IntronicSNV - 1/19 1
17-78077470-T-C c.-32-884T>C - IntronicSNV - 1/19 1
17-78077561-C-A c.-32-793C>A - IntronicSNV - 1/19 1
17-78077561-C-G c.-32-793C>G - IntronicSNV - 1/19 1
17-78077633-G-C c.-32-721G>C - IntronicSNV - 1/19 1
17-78077668-A-G c.-32-686A>G - IntronicSNV - 1/19 1
17-78077714-C-A c.-32-640C>A - IntronicSNV - 1/19 2
17-78077714-C-T c.-32-640C>T - IntronicSNV - 1/19 2
17-78077833-G-A c.-32-521G>A - IntronicSNV - 1/19 1
17-78077833-G-C c.-32-521G>C - IntronicSNV - 1/19 1
17-78077833-G-T c.-32-521G>T - IntronicSNV - 1/19 1
17-78077860-C-G c.-32-494C>G - IntronicSNV - 1/19 1
17-78077860-C-T c.-32-494C>T - IntronicSNV - 1/19 1
17-78077892-G-A c.-32-462G>A - IntronicSNV - 1/19 1
17-78077892-G-C c.-32-462G>C - IntronicSNV - 1/19 1
17-78075544-G-A c.-178G>A - IntronicSNV 1/20 - 1
17-78075544-G-C c.-178G>C - IntronicSNV 1/20 - 1
17-78078341-T-G c.-32-13T>G - IntronicSNV - 1/19 6
17-78078385-C-CA c.1dup p.M1? CdsStartInsertion 2/20 - 1
17-78078386-A-G c.1A>G p.M1? Missense 2/20 - 3
17-78078386-A-T c.1A>T p.M1? Missense 2/20 - 1
17-78078387-AT-A c.2del p.M1? CdsStartDeletion 2/20 - 1
17-78078387-T-C c.2T>C p.M1? Missense 2/20 - 1
17-78078388-G-A c.3G>A p.M1? Missense 2/20 - 2
17-78078394-G-GT c.9_10insT p.R4* Nonsense 2/20 - 1
17-78078399-A-G c.14A>G p.H5R Missense 2/20 - 1
17-78078400-C-T c.15C>T p.H5= Synonymous 2/20 - 1
17-78078409-C-A c.24C>A p.C8* Nonsense 2/20 - 1
17-78078409-C-T c.24C>T p.C8= Synonymous 2/20 - 1
17-78078411-C-G c.26C>G p.S9C Missense 2/20 - 1
17-78078414-CA-C c.29del p.H10Pfs*33 Frameshift 2/20 - 2
17-78078415-C-T c.30C>T p.H10= Synonymous 2/20 - 2
17-78078417-G-A c.32G>A p.R11Q Missense 2/20 - 1
17-78078417-GG-AT c.32_33delinsAT p.R11H Missense 2/20 - 1
17-78078422-CT-GC c.37_38delinsGC p.L13A Missense 2/20 - 2
17-78078421-CCTGGCCGT-C c.40_47del p.A14Rfs*18 Frameshift 2/20 - 3
17-78078425-GC-CG c.40_41delinsCG p.A14R Missense 2/20 - 1
17-78078425-GC-TG c.40_41delinsTG p.A14C Missense 2/20 - 1
17-78078426-C-G c.41C>G p.A14G Missense 2/20 - 1
17-78078427-C-A c.42C>A p.A14= Synonymous 2/20 - 1
17-78078427-C-G c.42C>G p.A14= Synonymous 2/20 - 1
17-78078427-C-T c.42C>T p.A14= Synonymous 2/20 - 1
17-78078431-T-C c.46T>C p.C16R Missense 2/20 - 1
17-78078434-G-A c.49G>A p.A17T Missense 2/20 - 2
17-78078434-GCC-CAA c.49_51delinsCAA p.A17Q Missense 2/20 - 1
17-78078434-GC-CT c.49_50delinsCT p.A17L Missense 2/20 - 1
17-78078434-GC-G c.52del p.L18Sfs*25 Frameshift 2/20 - 1
17-78078437-C-G c.52C>G p.L18V Missense 2/20 - 1
17-78078437-C-T c.52C>T p.L18F Missense 2/20 - 1
17-78078438-T-C c.53T>C p.L18P Missense 2/20 - 1
17-78078440-G-C c.55G>C p.V19L Missense 2/20 - 1
17-78078442-G-A c.57G>A p.V19= Synonymous 2/20 - 1
17-78078442-G-C c.57G>C p.V19= Synonymous 2/20 - 1
17-78078442-G-T c.57G>T p.V19= Synonymous 2/20 - 1
17-78078443-T-G c.58T>G p.S20A Missense 2/20 - 1
17-78078452-A-G c.67A>G p.T23A Missense 2/20 - 1
17-78078455-G-A c.70G>A p.A24T Missense 2/20 - 1
17-78078458-GCA-TGT c.73_75delinsTGT p.A25C Missense 2/20 - 1
17-78078459-C-T c.74C>T p.A25V Missense 2/20 - 1
17-78078461-C-G c.76C>G p.L26V Missense 2/20 - 1
17-78078462-T-TAA c.77_78insAA p.L27Tfs*17 Frameshift 2/20 - 1
17-78078464-C-G c.79C>G p.L27V Missense 2/20 - 1
17-78078465-T-C c.80T>C p.L27P Missense 2/20 - 1
17-78078467-GGG-TGT c.82_84delinsTGT p.G28C Missense 2/20 - 2
17-78078468-G-C c.83G>C p.G28A Missense 2/20 - 1
17-78078468-GG-AC c.83_84delinsAC p.G28D Missense 2/20 - 1
17-78078468-GGGCA-G c.83_86del p.G28Afs*14 Frameshift 2/20 - 1
17-78078470-C-A c.85C>A p.H29N Missense 2/20 - 1
17-78078470-C-G c.85C>G p.H29D Missense 2/20 - 1
17-78078471-A-G c.86A>G p.H29R Missense 2/20 - 1
17-78078473-ATC-GAG c.88_90delinsGAG p.I30E Missense 2/20 - 1
17-78078473-AT-GA c.88_89delinsGA p.I30D Missense 2/20 - 1
17-78078474-T-A c.89T>A p.I30N Missense 2/20 - 1
17-78078479-C-T c.94C>T p.L32F Missense 2/20 - 1
17-78078481-C-A c.96C>A p.L32= Synonymous 2/20 - 1
17-78078483-A-G c.98A>G p.H33R Missense 2/20 - 1
17-78078484-T-C c.99T>C p.H33= Synonymous 2/20 - 2
17-78078485-TG-T c.100del p.D34Ifs*9 Frameshift 2/20 - 1
17-78078486-A-C c.101A>C p.D34A Missense 2/20 - 2
17-78078489-T-C c.104T>C p.F35S Missense 2/20 - 1
17-78078491-CT-GC c.106_107delinsGC p.L36A Missense 2/20 - 1
17-78078492-T-A c.107T>A p.L36Q Missense 2/20 - 1
17-78078494-C-G c.109C>G p.L37V Missense 2/20 - 1
17-78078494-CT-GC c.109_110delinsGC p.L37A Missense 2/20 - 3
17-78078496-G-GAA c.111_112insAA p.V38Kfs*6 Frameshift 2/20 - 1
17-78078497-GTT-ATG c.112_114delinsATG p.V38M Missense 2/20 - 1
17-78078503-CG-GC c.118_119delinsGC p.R40A Missense 2/20 - 2
17-78078503-C-T c.118C>T p.R40* Nonsense 2/20 - 7
17-78078504-G-C c.119G>C p.R40P Missense 2/20 - 1
17-78078506-G-A c.121G>A p.E41K Missense 2/20 - 3
17-78078506-G-C c.121G>C p.E41Q Missense 2/20 - 1
17-78078507-A-C c.122A>C p.E41A Missense 2/20 - 1
17-78078507-A-G c.122A>G p.E41G Missense 2/20 - 2
17-78078507-A-T c.122A>T p.E41V Missense 2/20 - 2
17-78078508-G-A c.123G>A p.E41= Synonymous 2/20 - 1
17-78078508-G-C c.123G>C p.E41D Missense 2/20 - 2
17-78078508-G-T c.123G>T p.E41D Missense 2/20 - 2
17-78078509-CTGAG-C c.127_130del p.S43Afs*98 Frameshift 2/20 - 1
17-78078515-G-T c.130G>T p.G44C Missense 2/20 - 3
17-78078524-C-T c.139C>T p.P47S Missense 2/20 - 1
17-78078525-C-G c.140C>G p.P47R Missense 2/20 - 1
17-78078533-GGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCA-G c.149_207del p.E50Gfs*26 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/20 - 1
17-78078534-A-G c.149A>G p.E50G Missense 2/20 - 1
17-78078536-GA-TC c.151_152inv p.E51S Missense 2/20 - 1
17-78078537-A-G c.152A>G p.E51G Missense 2/20 - 1
17-78078539-A-G c.154A>G p.T52A Missense 2/20 - 2
17-78078539-ACT-A c.156_157del p.H53Pfs*42 Frameshift 2/20 - 1
17-78078542-C-A c.157C>A p.H53N Missense 2/20 - 1
17-78078542-CA-TT c.157_158delinsTT p.H53F Missense 2/20 - 1
17-78078542-TC-T c.157del p.H53Tfs*89 Frameshift 2/20 - 1
17-78078547-A-C c.162A>C p.P54= Synonymous 2/20 - 1
17-78078547-A-G c.162A>G p.P54= Synonymous 2/20 - 1
17-78078547-A-T c.162A>T p.P54= Synonymous 2/20 - 1
17-78078548-GC-TG c.163_164delinsTG p.A55C Missense 2/20 - 1
17-78078549-C-A c.164C>A p.A55D Missense 2/20 - 1
17-78078549-CT-AG c.164_165inv p.A55E Missense 2/20 - 1
17-78078550-CT-C c.165del p.H56Tfs*86 Frameshift 2/20 - 1
17-78078551-C-T c.166C>T p.H56Y Missense 2/20 - 1
17-78078554-C-T c.169C>T p.Q57* Nonsense 2/20 - 2
17-78078556-G-C c.171G>C p.Q57H Missense 2/20 - 2
17-78078556-G-T c.171G>T p.Q57H Missense 2/20 - 2
17-78078558-A-T c.173A>T p.Q58L Missense 2/20 - 1
17-78078561-G-C c.176G>C p.G59A Missense 2/20 - 1
17-78078561-G-T c.176G>T p.G59V Missense 2/20 - 1
17-78078563-GC-TT c.178_179delinsTT p.A60F Missense 2/20 - 1
17-78078564-CC-AG c.179_180delinsAG p.A60E Missense 2/20 - 1
17-78078568-C-CT c.183_184insT p.R62* Nonsense 2/20 - 1
17-78078569-AG-GC c.184_185delinsGC p.R62A Missense 2/20 - 1
17-78078570-G-GA c.186dup p.P63Tfs*33 Frameshift 2/20 - 1
17-78078571-A-C c.186A>C p.R62S Missense 2/20 - 1
17-78078571-A-T c.186A>T p.R62S Missense 2/20 - 1
17-78078574-CA-C c.189del p.R66Gfs*76 Frameshift 2/20 - 1
17-78078576-G-T c.191G>T p.G64V Missense 2/20 - 1
17-78078580-C-CTT c.195_196insTT p.R66Ffs*77 Frameshift 2/20 - 1
17-78078581-CGG-AGC c.196_198delinsAGC p.R66S Missense 2/20 - 1
17-78078582-G-A c.197G>A p.R66Q Missense 2/20 - 1
17-78078584-G-A c.199G>A p.D67N Missense 2/20 - 6
17-78078585-A-G c.200A>G p.D67G Missense 2/20 - 1
17-78078586-T-A c.201T>A p.D67E Missense 2/20 - 1
17-78078586-T-G c.201T>G p.D67E Missense 2/20 - 1
17-78078588-CC-AG c.203_204delinsAG p.A68E Missense 2/20 - 1
17-78078590-C-T c.205C>T p.Q69* Nonsense 2/20 - 1
17-78078591-A-T c.206A>T p.Q69L Missense 2/20 - 1
17-78078593-GCA-TTT c.208_210delinsTTT p.A70F Missense 2/20 - 1
17-78078594-CA-AC c.209_210delinsAC p.A70D Missense 2/20 - 2
17-78078595-A-T c.210A>T p.A70= Synonymous 2/20 - 1
17-78078596-C-A c.211C>A p.H71N Missense 2/20 - 1
17-78078597-A-T c.212A>T p.H71L Missense 2/20 - 2
17-78078602-G-T c.217G>T p.G73C Missense 2/20 - 1
17-78078604-GCC-G c.219_220del p.R74Sfs*21 Frameshift 2/20 - 1
17-78078605-C-T c.220C>T p.R74C Missense 2/20 - 1
17-78078606-CGT-C c.221_222del p.R74Pfs*21 Frameshift 2/20 - 1
17-78078608-C-T c.223C>T p.P75S Missense 2/20 - 1
17-78078612-G-A c.227G>A p.R76K Missense 2/20 - 1
17-78078613-A-G c.228A>G p.R76= Synonymous 2/20 - 1
17-78078614-G-A c.229G>A p.A77T Missense 2/20 - 3
17-78078614-GCA-TTT c.229_231delinsTTT p.A77F Missense 2/20 - 1
17-78078615-CA-AC c.230_231delinsAC p.A77D Missense 2/20 - 1
17-78078616-A-C c.231A>C p.A77= Synonymous 2/20 - 1
17-78078616-A-G c.231A>G p.A77= Synonymous 2/20 - 1
17-78078616-A-T c.231A>T p.A77= Synonymous 2/20 - 1
17-78078614-GCAGTGCCCACA-G c.236_246del p.P79Rfs*13 Frameshift 2/20 - 8
17-78078623-A-G c.238A>G p.T80A Missense 2/20 - 1
17-78078626-CA-GC c.241_242delinsGC p.Q81A Missense 2/20 - 1
17-78078626-C-T c.241C>T p.Q81* Nonsense 2/20 - 2
17-78078627-A-C c.242A>C p.Q81P Missense 2/20 - 1
17-78078629-T-C c.244T>C p.C82R Missense 2/20 - 2
17-78078629-TG-GA c.244_245delinsGA p.C82D Missense 2/20 - 1
17-78078631-C-T c.246C>T p.C82= Synonymous 2/20 - 1
17-78078632-G-C c.247G>C p.D83H Missense 2/20 - 1
17-78078637-C-CTT c.252_253insTT p.P85Ffs*58 Frameshift 2/20 - 1
17-78078642-C-G c.257C>G p.P86R Missense 2/20 - 2
17-78078636-T-TC c.258dup p.N87Qfs*9 Frameshift 2/20 - 14
17-78078643-C-A c.258C>A p.P86= Synonymous 2/20 - 1
17-78078643-CA-C c.260del p.N87Tfs*55 Frameshift 2/20 - 2
17-78078648-GC-G c.265del p.R89Afs*53 Frameshift 2/20 - 1
17-78078650-C-T c.265C>T p.R89C Missense 2/20 - 3
17-78078651-G-A c.266G>A p.R89H Missense 2/20 - 7
17-78078651-G-T c.266G>T p.R89L Missense 2/20 - 1
17-78078653-CTT-C c.268_269del p.F90Rfs*5 Frameshift 2/20 - 1
17-78078656-G-A c.271G>A p.D91N Missense 2/20 - 18
17-78078656-GA-TT c.271_272delinsTT p.D91F Missense 2/20 - 1
17-78078658-T-A c.273T>A p.D91E Missense 2/20 - 1
17-78078658-T-G c.273T>G p.D91E Missense 2/20 - 1
17-78078663-C-G c.278C>G p.A93G Missense 2/20 - 1
17-78078666-CCT-C c.281_282del p.P94Rfs*51 Frameshift 2/20 - 2
17-78078666-CT-AA c.281_282delinsAA p.P94Q Missense 2/20 - 1
17-78078669-A-C c.284A>C p.D95A Missense 2/20 - 1
17-78078671-A-G c.286A>G p.K96E Missense 2/20 - 1
17-78078675-C-G c.290C>G p.A97G Missense 2/20 - 1
17-78078676-C-A c.291C>A p.A97= Synonymous 2/20 - 2
17-78078676-C-G c.291C>G p.A97= Synonymous 2/20 - 2
17-78078676-C-T c.291C>T p.A97= Synonymous 2/20 - 2
17-78078678-TCACCCAGGAACAGTGCGAGG-T c.295_314del p.T99Pfs*40 Frameshift 2/20 - 1
17-78078681-C-T c.296C>T p.T99I Missense 2/20 - 1
17-78078687-A-C c.302A>C p.E101A Missense 2/20 - 1
17-78078689-C-G c.304C>G p.Q102E Missense 2/20 - 1
17-78078690-A-G c.305A>G p.Q102R Missense 2/20 - 2
17-78078690-CAGTG-C c.305_308del p.Q102Pfs*39 Frameshift 2/20 - 1
17-78078692-T-C c.307T>C p.C103R Missense 2/20 - 3
17-78078692-T-G c.307T>G p.C103G Missense 2/20 - 18
17-78078692-TG-AC c.307_308delinsAC p.C103T Missense 2/20 - 1
17-78078692-TG-GC c.307_308delinsGC p.C103A Missense 2/20 - 1
17-78078694-C-A c.309C>A p.C103* Nonsense 2/20 - 1
17-78078694-C-G c.309C>G p.C103W Missense 2/20 - 2
17-78078699-C-A c.314C>A p.A105D Missense 2/20 - 1
17-78078701-C-CTT c.316_317insTT p.R106Lfs*37 Frameshift 2/20 - 1
17-78078701-CGC-TGG c.316_318delinsTGG p.R106W Missense 2/20 - 2
17-78078701-C-T c.316C>T p.R106C Missense 2/20 - 1
17-78078702-G-A c.317G>A p.R106H Missense 2/20 - 4
17-78078707-TG-GC c.322_323delinsGC p.C108A Missense 2/20 - 1
17-78078707-T-TAA c.322_323insAA p.C108* Nonsense 2/20 - 1
17-78078708-G-A c.323G>A p.C108Y Missense 2/20 - 2
17-78078708-G-C c.323G>C p.C108S Missense 2/20 - 2
17-78078709-T-C c.324T>C p.C108= Synonymous 2/20 - 6
17-78078710-T-G c.325T>G p.C109G Missense 2/20 - 1
17-78078711-GCTA-G c.328_330del p.Y110del InFrameDeletion 2/20 - 1
17-78078713-T-C c.328T>C p.Y110H Missense 2/20 - 4
17-78078716-CATCCCTGCAAAG-C c.331_342del p.I111_K114del InFrameDeletion 2/20 - 1
17-78078722-G-C c.337G>C p.A113P Missense 2/20 - 1
17-78078723-CA-AC c.338_339delinsAC p.A113D Missense 2/20 - 1
17-78078725-A-AT c.340_341insT p.K114Ifs*32 Frameshift 2/20 - 5
17-78078726-A-AT c.341_342insT p.K114Nfs*32 Frameshift 2/20 - 3
17-78078728-C-CAA c.344_345insAA p.G116Rfs*27 Frameshift 2/20 - 1
17-78078731-G-A c.346G>A p.G116R Missense 2/20 - 1
17-78078736-G-A c.351G>A p.L117= Synonymous 2/20 - 1
17-78078737-C-A c.352C>A p.Q118K Missense 2/20 - 1
17-78078737-C-T c.352C>T p.Q118* Nonsense 2/20 - 3
17-78078738-A-G c.353A>G p.Q118R Missense 2/20 - 1
17-78078740-GGA-AGC c.355_357delinsAGC p.G119S Missense 2/20 - 2
17-78078750-AT-A c.365del p.M122Rfs*20 Frameshift 2/20 - 1
17-78078750-T-A c.365T>A p.M122K Missense 2/20 - 1
17-78078753-G-A c.368G>A p.G123E Missense 2/20 - 1
17-78078755-CA-GC c.370_371delinsGC p.Q124A Missense 2/20 - 1
17-78078755-C-CTT c.370_371insTT p.Q124Lfs*19 Frameshift 2/20 - 1
17-78078758-C-G c.373C>G p.P125A Missense 2/20 - 1
17-78078763-G-A c.378G>A p.W126* Nonsense 2/20 - 1
17-78078762-GGT-G c.379_380del p.C127Lfs*18 Frameshift 2/20 - 4
17-78078763-G-GTT c.379_380insTT p.C127Ffs*16 Frameshift 2/20 - 1
17-78078765-G-A c.380G>A p.C127Y Missense 2/20 - 1
17-78078765-G-T c.380G>T p.C127F Missense 2/20 - 1
17-78078767-T-TAA c.382_383insAA p.F128* Nonsense 2/20 - 1
17-78078779-AG-CC c.394_395delinsCC p.S132P Missense 2/20 - 1
17-78078779-A-T c.394A>T p.S132C Missense 2/20 - 1
17-78078782-T-G c.397T>G p.Y133D Missense 2/20 - 1
17-78078788-AG-GC c.403_404delinsGC p.S135A Missense 2/20 - 1
17-78078791-TA-GC c.406_407delinsGC p.Y136A Missense 2/20 - 1
17-78078791-T-C c.406T>C p.Y136H Missense 2/20 - 1
17-78078793-C-CT c.408_409insT p.K137* Nonsense 2/20 - 1
17-78078799-G-C c.414G>C p.L138= Synonymous 2/20 - 1
17-78078799-G-GAA c.414_415insAA p.E139Kfs*4 Frameshift 2/20 - 1
17-78078805-C-A c.420C>A p.N140K Missense 2/20 - 2
17-78078807-TGAGCTCCTCTGAAATGG-T c.424_440del p.S142Lfs*29 Frameshift 2/20 - 2
17-78078809-A-T c.424A>T p.S142C Missense 2/20 - 1
17-78078810-G-A c.425G>A p.S142N Missense 2/20 - 1
17-78078810-G-C c.425G>C p.S142T Missense 2/20 - 1
17-78078810-GCTC-G c.429_431del p.S144del InFrameDeletion 2/20 - 1
17-78078815-T-G c.430T>G p.S144A Missense 2/20 - 1
17-78078818-G-A c.433G>A p.E145K Missense 2/20 - 1
17-78078819-A-C c.434A>C p.E145A Missense 2/20 - 1
17-78078818-GAA-G c.435_436del p.E145Dfs*31 Frameshift 2/20 - 1
17-78078820-A-C c.435A>C p.E145D Missense 2/20 - 1
17-78078820-A-G c.435A>G p.E145= Synonymous 2/20 - 1
17-78078820-A-T c.435A>T p.E145D Missense 2/20 - 1
17-78078821-A-G c.436A>G p.M146V Missense 2/20 - 1
17-78078822-AT-A c.437del p.M146Rfs*7 Frameshift 2/20 - 8
17-78078824-G-A c.439G>A p.G147S Missense 2/20 - 1
17-78078824-G-T c.439G>T p.G147C Missense 2/20 - 1
17-78078829-C-G c.444C>G p.Y148* Nonsense 2/20 - 1
17-78078830-A-C c.445A>C p.T149P Missense 2/20 - 2
17-78078832-G-A c.447G>A p.T149= Synonymous 2/20 - 2
17-78078844-C-G c.459C>G p.T153= Synonymous 2/20 - 1
17-78078844-C-T c.459C>T p.T153= Synonymous 2/20 - 1
17-78078841-GACCCGT-G c.460_465del p.R154_T155del InFrameDeletion 2/20 - 1
17-78078846-G-A c.461G>A p.R154H Missense 2/20 - 1
17-78078851-A-C c.466A>C p.T156P Missense 2/20 - 1
17-78078851-AC-GT c.466_467inv p.T156V Missense 2/20 - 1
17-78078852-C-T c.467C>T p.T156I Missense 2/20 - 1
17-78078856-C-G c.471C>G p.P157= Synonymous 2/20 - 1
17-78078856-C-T c.471C>T p.P157= Synonymous 2/20 - 1
17-78078857-A-G c.472A>G p.T158A Missense 2/20 - 2
17-78078858-CC-TG c.473_474delinsTG p.T158M Missense 2/20 - 3
17-78078863-T-A c.478T>A p.F160I Missense 2/20 - 1
17-78078863-TT-GC c.478_479delinsGC p.F160A Missense 2/20 - 1
17-78078864-T-C c.479T>C p.F160S Missense 2/20 - 1
17-78078864-TCC-T c.482_483del p.P161Qfs*15 Frameshift 2/20 - 3
17-78078864-T-TC c.483dup p.K162Qfs*15 Frameshift 2/20 - 4
17-78078869-A-C c.484A>C p.K162Q Missense 2/20 - 2
17-78078869-A-G c.484A>G p.K162E Missense 2/20 - 1
17-78078870-A-G c.485A>G p.K162R Missense 2/20 - 1
17-78078875-A-C c.490A>C p.I164L Missense 2/20 - 2
17-78078878-C-T c.493C>T p.L165= Synonymous 2/20 - 1
17-78078882-C-T c.497C>T p.T166I Missense 2/20 - 1
17-78078884-C-T c.499C>T p.L167= Synonymous 2/20 - 1
17-78078887-CG-TA c.502_503delinsTA p.R168* Nonsense 2/20 - 2
17-78078887-C-T c.502C>T p.R168W Missense 2/20 - 1
17-78078887-GC-G c.502del p.R168Gfs*4 Frameshift 2/20 - 1
17-78078888-G-A c.503G>A p.R168Q Missense 2/20 - 1
17-78078888-G-C c.503G>C p.R168P Missense 2/20 - 3
17-78078888-G-T c.503G>T p.R168L Missense 2/20 - 1
17-78078890-C-A c.505C>A p.L169M Missense 2/20 - 2
17-78078890-CTG-TTT c.505_507delinsTTT p.L169F Missense 2/20 - 1
17-78078891-T-C c.506T>C p.L169P Missense 2/20 - 1
17-78078895-C-T c.510C>T p.D170= Synonymous 2/20 - 10
17-78078896-CG-C c.511del p.V171* Frameshift 2/20 - 1
17-78078899-A-C c.514A>C p.M172L Missense 2/20 - 1
17-78078899-A-G c.514A>G p.M172V Missense 2/20 - 1
17-78078899-A-T c.514A>T p.M172L Missense 2/20 - 1
17-78078896-GTGA-G c.517_519del p.M173del InFrameDeletion 2/20 - 2
17-78078903-T-A c.518T>A p.M173K Missense 2/20 - 1
17-78078906-A-C c.521A>C p.E174A Missense 2/20 - 1
17-78078909-AC-A c.524del p.T175Mfs*46 Frameshift 2/20 - 1
17-78078909-C-CT c.525dup p.E176* Nonsense 2/20 - 1
17-78078910-CT-C c.525del p.E176Rfs*45 Frameshift 2/20 - 72
17-78078910-CTG-C c.525_526del p.N177Pfs*11 Frameshift 2/20 - 5
17-78078911-GA-AG c.526_527delinsAG p.E176R Missense 2/20 - 1
17-78078915-AC-GG c.530_531delinsGG p.N177R Missense 2/20 - 1
17-78078917-CGC-TGG c.532_534delinsTGG p.R178W Missense 2/20 - 1
17-78078917-CG-GA c.532_533delinsGA p.R178D Missense 2/20 - 1
17-78078917-CG-GC c.532_533delinsGC p.R178A Missense 2/20 - 1
17-78078917-C-T c.532C>T p.R178C Missense 2/20 - 1
17-78078918-G-A c.533G>A p.R178H Missense 2/20 - 5
17-78078922-CCACTT-C c.541_545del p.F181Dfs*6 SpliceDonorDeletion 2/20 - 2
17-78078929-ACG-TTT c.544_546delinsTTT p.T182F Missense 2/20 - 1
17-78078929-A-T c.544A>T p.T182S Missense 2/20 - 1
17-78078930-C-CA c.545_546insA p.I183Dfs*6 SpliceDonorInsertion 2/20 - 1
17-78078930-C-G c.545C>G p.T182R Missense 2/20 - 2
17-78078931-G-A c.546G>A p.T182= Synonymous 2/20 - 7
17-78078931-G-C c.546G>C p.T182= Synonymous 2/20 - 1
17-78078931-G-T c.546G>T p.T182= Synonymous 2/20 - 11
17-78078930-CG-C c.546+1del - IntronicDeletion - 2/19 1
17-78078932-G-T c.546+1G>T - IntronicSNV - 2/19 2
17-78078930-CGGTG-C c.546+2_546+5del - IntronicDeletion - 2/19 1
17-78078933-T-C c.546+2T>C - IntronicSNV - 2/19 5
17-78078936-G-A c.546+5G>A - IntronicSNV - 2/19 1
17-78078936-G-T c.546+5G>T - IntronicSNV - 2/19 3
17-78079224-G-A c.546+293G>A - IntronicSNV - 2/19 2
17-78079305-C-G c.547-243C>G - IntronicSNV - 2/19 2
17-78079310-T-C c.547-238T>C - IntronicSNV - 2/19 2
17-78079481-C-G c.547-67C>G - IntronicSNV - 2/19 1
17-78079509-T-G c.547-39T>G - IntronicSNV - 2/19 2
17-78079544-C-G c.547-4C>G - IntronicSNV - 2/19 2
17-78079551-AA-GC c.550_551delinsGC p.K184A Missense 3/20 - 1
17-78079551-A-C c.550A>C p.K184Q Missense 3/20 - 1
17-78079551-A-G c.550A>G p.K184E Missense 3/20 - 1
17-78079557-C-T c.556C>T p.P186S Missense 3/20 - 1
17-78079560-G-C c.559G>C p.A187P Missense 3/20 - 1
17-78079561-C-G c.560C>G p.A187G Missense 3/20 - 1
17-78079564-A-G c.563A>G p.N188S Missense 3/20 - 3
17-78079569-C-A c.568C>A p.R190S Missense 3/20 - 5
17-78079569-CGC-AAG c.568_570delinsAAG p.R190K Missense 3/20 - 1
17-78079569-CG-GC c.568_569delinsGC p.R190A Missense 3/20 - 2
17-78079569-C-T c.568C>T p.R190C Missense 3/20 - 3
17-78079570-G-A c.569G>A p.R190H Missense 3/20 - 2
17-78079571-GCT-G c.570_571del p.Y191Rfs*138 Frameshift 3/20 - 1
17-78079573-A-G c.572A>G p.Y191C Missense 3/20 - 1
17-78079574-C-A c.573C>A p.Y191* Nonsense 3/20 - 5
17-78079575-G-A c.574G>A p.E192K Missense 3/20 - 1
17-78079575-GAG-CAT c.574_576delinsCAT p.E192H Missense 3/20 - 1
17-78079578-GTG-ATC c.577_579delinsATC p.V193I Missense 3/20 - 1
17-78079584-TT-AG c.583_584delinsAG p.L195R Missense 3/20 - 1
17-78079588-A-G c.587A>G p.E196G Missense 3/20 - 1
17-78079591-C-A c.590C>A p.T197N Missense 3/20 - 1
17-78079593-CC-GA c.592_593delinsGA p.P198E Missense 3/20 - 1
17-78079594-C-T c.593C>T p.P198L Missense 3/20 - 2
17-78079596-C-T c.595C>T p.H199Y Missense 3/20 - 1
17-78079597-A-G c.596A>G p.H199R Missense 3/20 - 14
17-78079605-AGC-TGA c.604_606delinsTGA p.S202* Nonsense 3/20 - 1
17-78079603-ACAGCCGGGCACCGTCCC-A c.605_621del p.S202Tfs*122 Frameshift 3/20 - 1
17-78079608-CG-AA c.607_608delinsAA p.R203K Missense 3/20 - 3
17-78079608-CG-AT c.607_608delinsAT p.R203M Missense 3/20 - 1
17-78079608-C-T c.607C>T p.R203W Missense 3/20 - 1
17-78079611-G-A c.610G>A p.A204T Missense 3/20 - 1
17-78079614-C-T c.613C>T p.P205S Missense 3/20 - 1
17-78079618-C-T c.617C>T p.S206F Missense 3/20 - 1
17-78079624-TC-AA c.623_624delinsAA p.L208Q Missense 3/20 - 1
17-78079629-A-G c.628A>G p.S210G Missense 3/20 - 1
17-78079631-C-T c.630C>T p.S210= Synonymous 3/20 - 1
17-78079637-G-C c.636G>C p.E212D Missense 3/20 - 1
17-78079637-G-T c.636G>T p.E212D Missense 3/20 - 1
17-78079643-C-A c.642C>A p.S214= Synonymous 3/20 - 3
17-78079643-C-G c.642C>G p.S214= Synonymous 3/20 - 2
17-78079643-C-T c.642C>T p.S214= Synonymous 3/20 - 4
17-78079644-GAG-ATC c.643_645delinsATC p.E215I Missense 3/20 - 1
17-78079645-A-G c.644A>G p.E215G Missense 3/20 - 1
17-78079646-G-A c.645G>A p.E215= Synonymous 3/20 - 1
17-78079646-G-C c.645G>C p.E215D Missense 3/20 - 1
17-78079646-G-T c.645G>T p.E215D Missense 3/20 - 1
17-78079647-G-A c.646G>A p.E216K Missense 3/20 - 1
17-78079648-A-G c.647A>G p.E216G Missense 3/20 - 1
17-78079652-C-G c.651C>G p.P217= Synonymous 3/20 - 1
17-78079655-C-T c.654C>T p.F218= Synonymous 3/20 - 1
17-78079656-G-A c.655G>A p.G219R Missense 3/20 - 26
17-78079656-G-C c.655G>C p.G219R Missense 3/20 - 2
17-78079665-G-A c.664G>A p.V222M Missense 3/20 - 6
17-78079666-T-G c.665T>G p.V222G Missense 3/20 - 4
17-78079668-CGC-GAG c.667_669delinsGAG p.R223E Missense 3/20 - 1
17-78079669-G-A c.668G>A p.R223H Missense 3/20 - 11
17-78079671-C-T c.670C>T p.R224W Missense 3/20 - 14
17-78079672-G-A c.671G>A p.R224Q Missense 3/20 - 1
17-78079674-GC-G c.673del p.Q225Sfs*8 Frameshift 3/20 - 1
17-78079677-C-G c.676C>G p.L226V Missense 3/20 - 1
17-78079681-A-G c.680A>G p.D227G Missense 3/20 - 2
17-78079684-G-C c.683G>C p.G228A Missense 3/20 - 1
17-78079685-C-CCCGG c.685_686insCGGC p.R229Pfs*102 Frameshift 3/20 - 4
17-78079686-CGC-AAG c.685_687delinsAAG p.R229K Missense 3/20 - 1
17-78079687-G-C c.686G>C p.R229P Missense 3/20 - 2
17-78079687-G-GCGGC c.688_689insGCCG p.V230Gfs*101 Frameshift 3/20 - 1
17-78079691-G-A c.690G>A p.V230= Synonymous 3/20 - 1
17-78079691-G-C c.690G>C p.V230= Synonymous 3/20 - 1
17-78079691-G-T c.690G>T p.V230= Synonymous 3/20 - 1
17-78079692-C-T c.691C>T p.L231= Synonymous 3/20 - 1
17-78079693-T-C c.692T>C p.L231P Missense 3/20 - 2
17-78079694-G-C c.692+1G>C - IntronicSNV - 3/19 4
17-78079694-G-T c.692+1G>T - IntronicSNV - 3/19 2
17-78079696-G-C c.692+3G>C - IntronicSNV - 3/19 1
17-78079698-G-T c.692+5G>T - IntronicSNV - 3/19 1
17-78079731-C-T c.692+38C>T - IntronicSNV - 3/19 2
17-78079837-A-G c.692+144A>G - IntronicSNV - 3/19 1
17-78080202-T-C c.692+509T>C - IntronicSNV - 3/19 1
17-78080367-G-C c.692+674G>C - IntronicSNV - 3/19 1
17-78080444-T-C c.692+751T>C - IntronicSNV - 3/19 1
17-78080770-G-A c.693-586G>A - IntronicSNV - 3/19 1
17-78080771-T-C c.693-585T>C - IntronicSNV - 3/19 1
17-78080797-C-T c.693-559C>T - IntronicSNV - 3/19 1
17-78080865-G-A c.693-491G>A - IntronicSNV - 3/19 1
17-78080865-G-C c.693-491G>C - IntronicSNV - 3/19 1
17-78080915-C-G c.693-441C>G - IntronicSNV - 3/19 1
17-78080915-C-T c.693-441C>T - IntronicSNV - 3/19 1
17-78080922-C-A c.693-434C>A - IntronicSNV - 3/19 1
17-78080942-C-A c.693-414C>A - IntronicSNV - 3/19 1
17-78080942-C-G c.693-414C>G - IntronicSNV - 3/19 1
17-78080942-C-T c.693-414C>T - IntronicSNV - 3/19 1
17-78080943-A-G c.693-413A>G - IntronicSNV - 3/19 1
17-78080943-A-T c.693-413A>T - IntronicSNV - 3/19 1
17-78081140-T-A c.693-216T>A - IntronicSNV - 3/19 2
17-78081140-T-C c.693-216T>C - IntronicSNV - 3/19 2
17-78081262-C-G c.693-94C>G - IntronicSNV - 3/19 1
17-78081262-C-T c.693-94C>T - IntronicSNV - 3/19 1
17-78081278-C-G c.693-78C>G - IntronicSNV - 3/19 1
17-78081278-C-T c.693-78C>T - IntronicSNV - 3/19 1
17-78081307-C-T c.693-49C>T - IntronicSNV - 3/19 1
17-78081352-G-A c.693-4G>A - IntronicSNV - 3/19 1
17-78081352-G-T c.693-4G>T - IntronicSNV - 3/19 1
17-78081363-A-G c.700A>G p.T234A Missense 4/20 - 1
17-78081364-C-A c.701C>A p.T234K Missense 4/20 - 1
17-78081364-CG-TC c.701_702delinsTC p.T234I Missense 4/20 - 1
17-78081368-G-A c.705G>A p.T235= Synonymous 4/20 - 3
17-78081367-CG-C c.706del p.V236Wfs*32 Frameshift 4/20 - 2
17-78081370-T-G c.707T>G p.V236G Missense 4/20 - 1
17-78081373-C-T c.710C>T p.A237V Missense 4/20 - 2
17-78081378-CCT-C c.715_716del p.L239Vfs*90 Frameshift 4/20 - 1
17-78081379-CT-C c.716del p.L239Rfs*29 Frameshift 4/20 - 2
17-78081379-CTGTT-C c.716_719del p.L239Pfs*28 Frameshift 4/20 - 1
17-78081383-CTT-C c.722_723del p.F241Cfs*88 Frameshift 4/20 - 6
17-78081385-T-A c.722T>A p.F241Y Missense 4/20 - 1
17-78081385-T-G c.722T>G p.F241C Missense 4/20 - 1
17-78081389-G-A c.726G>A p.A242= Synonymous 4/20 - 4
17-78081390-G-A c.727G>A p.D243N Missense 4/20 - 1
17-78081393-C-T c.730C>T p.Q244* Nonsense 4/20 - 2
17-78081396-GTT-G c.733_734del p.F245Pfs*84 Frameshift 4/20 - 1
17-78081397-TC-T c.736del p.L246Ffs*22 Frameshift 4/20 - 3
17-78081404-G-GC c.742dup p.L248Pfs*82 Frameshift 4/20 - 1
17-78081412-C-T c.749C>T p.T250I Missense 4/20 - 1
17-78081415-C-CTT c.752_753insTT p.L252Cfs*17 Frameshift 4/20 - 1
17-78081415-C-T c.752C>T p.S251L Missense 4/20 - 13
17-78081419-G-GT c.756_757insT p.P253Sfs*77 Frameshift 4/20 - 3
17-78081419-GC-G c.759del p.S254Rfs*14 Frameshift 4/20 - 2
17-78081424-C-T c.761C>T p.S254L Missense 4/20 - 12
17-78081425-G-A c.762G>A p.S254= Synonymous 4/20 - 1
17-78081426-C-T c.763C>T p.Q255* Nonsense 4/20 - 3
17-78081427-A-C c.764A>C p.Q255P Missense 4/20 - 1
17-78081428-G-A c.765G>A p.Q255= Synonymous 4/20 - 1
17-78081427-AGTATATCACAGGCCTCGCC-A c.766_784del p.Y256Sfs*6 Frameshift 4/20 - 1
17-78081429-GTATATCACAGGCCTCGCCGA-G c.766_785del p.Y256Afs*67 Frameshift 4/20 - 1
17-78081429-TATATCACAGGCCTCGCCGA-C c.766_785delinsC p.Y256Rfs*6 Frameshift 4/20 - 2
17-78081433-TCACAGG-T c.772_777del p.T258_G259del InFrameDeletion 4/20 - 1
17-78081438-AGGC-A c.775_777del p.G259del InFrameDeletion 4/20 - 1
17-78081444-G-A c.781G>A p.A261T Missense 4/20 - 3
17-78081444-G-C c.781G>C p.A261P Missense 4/20 - 1
17-78081445-C-T c.782C>T p.A261V Missense 4/20 - 1
17-78081446-C-G c.783C>G p.A261= Synonymous 4/20 - 1
17-78081447-G-A c.784G>A p.E262K Missense 4/20 - 12
17-78081447-G-C c.784G>C p.E262Q Missense 4/20 - 2
17-78081448-A-C c.785A>C p.E262A Missense 4/20 - 1
17-78081448-A-G c.785A>G p.E262G Missense 4/20 - 1
17-78081448-A-T c.785A>T p.E262V Missense 4/20 - 1
17-78081449-G-C c.786G>C p.E262D Missense 4/20 - 1
17-78081449-G-T c.786G>T p.E262D Missense 4/20 - 1
17-78081457-AG-A c.794del p.S265Ifs*3 Frameshift 4/20 - 2
17-78081457-G-A c.794G>A p.S265N Missense 4/20 - 2
17-78081459-C-A c.796C>A p.P266T Missense 4/20 - 2
17-78081459-C-T c.796C>T p.P266S Missense 4/20 - 14
17-78081460-C-T c.797C>T p.P266L Missense 4/20 - 1
17-78081462-CTGAT-A c.799_803delinsA p.L267Sfs*46 Frameshift 4/20 - 2
17-78081468-CTC-TGG c.805_807delinsTGG p.L269W Missense 4/20 - 1
17-78081472-G-T c.809G>T p.S270I Missense 4/20 - 1
17-78081474-A-G c.811A>G p.T271A Missense 4/20 - 1
17-78081474-AC-A c.813del p.S272Afs*42 Frameshift 4/20 - 1
17-78081478-G-A c.815G>A p.S272N Missense 4/20 - 1
17-78081481-G-C c.818G>C p.W273S Missense 4/20 - 1
17-78081481-G-T c.818G>T p.W273L Missense 4/20 - 1
17-78081487-G-A c.824G>A p.R275K Missense 4/20 - 1
17-78081489-A-T c.826A>T p.I276F Missense 4/20 - 1
17-78081493-C-T c.830C>T p.T277I Missense 4/20 - 1
17-78081492-AC-A c.832del p.L278Cfs*36 Frameshift 4/20 - 1
17-78081495-C-A c.832C>A p.L278M Missense 4/20 - 1
17-78081499-G-A c.836G>A p.W279* Nonsense 4/20 - 1
17-78081500-G-C c.837G>C p.W279C Missense 4/20 - 1
17-78081501-A-G c.838A>G p.N280D Missense 4/20 - 1
17-78081503-C-G c.840C>G p.N280K Missense 4/20 - 1
17-78081504-CG-AA c.841_842delinsAA p.R281K Missense 4/20 - 1
17-78081504-CG-GC c.841_842delinsGC p.R281A Missense 4/20 - 1
17-78081504-C-T c.841C>T p.R281W Missense 4/20 - 7
17-78081508-A-C c.845A>C p.D282A Missense 4/20 - 1
17-78081513-G-A c.850G>A p.A284T Missense 4/20 - 1
17-78081515-G-A c.852G>A p.A284= Synonymous 4/20 - 1
17-78081516-C-T c.853C>T p.P285S Missense 4/20 - 2
17-78081517-C-G c.854C>G p.P285R Missense 4/20 - 3
17-78081517-C-T c.854C>T p.P285L Missense 4/20 - 1
17-78081518-C-G c.855C>G p.P285= Synonymous 4/20 - 1
17-78081518-C-CA c.856dup p.T286Nfs*44 SpliceDonorInsertion 4/20 - 1
17-78081519-AC-GA c.856_857delinsGA p.T286E Missense 4/20 - 1
17-78081519-ACG-GAC c.856_858delinsGAC p.T286D Missense 4/20 - 1
17-78081519-AC-GT c.856_857inv p.T286V Missense 4/20 - 1
17-78081519-A-G c.856A>G p.T286A Missense 4/20 - 2
17-78081519-A-T c.856A>T p.T286S Missense 4/20 - 2
17-78081520-C-A c.857C>A p.T286K Missense 4/20 - 1
17-78081523-T-A c.858+2T>A - IntronicSNV - 4/19 1
17-78081526-A-AGCAGCAG c.858+7_858+8insAGCAGGC - IntronicInsertion - 4/19 1
17-78081526-A-AGCAGCGG c.858+7_858+8insAGCGGGC - IntronicInsertion - 4/19 1
17-78081526-A-AGCAGCGGGCGGCGG c.858+7_858+8insAGCGGGCGGCGGGC - IntronicInsertion - 4/19 1
17-78081526-A-AGCAGCGGGCGGCGGGCAGCGG c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC - IntronicInsertion - 4/19 1
17-78081526-A-AGCAGCGGGCGGCGGGCGGCGG c.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC - IntronicInsertion - 4/19 1
17-78081526-A-AGCAGCGGGTGGCGG c.858+7_858+8insAGCGGGTGGCGGGC - IntronicInsertion - 4/19 1
17-78081526-A-AGCAGTGG c.858+7_858+8insAGTGGGC - IntronicInsertion - 4/19 1
17-78081529-G-A c.858+8G>A - IntronicSNV - 4/19 1
17-78081538-CGGGCGGG-C c.858+20_858+26del - IntronicDeletion - 4/19 2
17-78081551-T-C c.858+30T>C - IntronicSNV - 4/19 3
17-78081601-C-T c.861C>T p.P287= Synonymous 5/20 - 1
17-78081602-G-A c.862G>A p.G288S Missense 5/20 - 1
17-78081603-G-GT c.864dup p.A289Cfs*41 Frameshift 5/20 - 1
17-78081608-AA-GC c.868_869delinsGC p.N290A Missense 5/20 - 1
17-78081608-A-G c.868A>G p.N290D Missense 5/20 - 2
17-78081611-C-T c.871C>T p.L291F Missense 5/20 - 4
17-78081612-T-C c.872T>C p.L291P Missense 5/20 - 4
17-78081615-A-G c.875A>G p.Y292C Missense 5/20 - 14
17-78081616-C-G c.876C>G p.Y292* Nonsense 5/20 - 2
17-78081617-G-A c.877G>A p.G293R Missense 5/20 - 10
17-78081618-G-T c.878G>T p.G293V Missense 5/20 - 2
17-78081619-G-A c.879G>A p.G293= Synonymous 5/20 - 1
17-78081620-GTCT-G c.880_882del p.S294del InFrameDeletion 5/20 - 1
17-78081623-C-A c.883C>A p.H295N Missense 5/20 - 1
17-78081624-A-C c.884A>C p.H295P Missense 5/20 - 1
17-78081624-A-G c.884A>G p.H295R Missense 5/20 - 1
17-78081625-C-T c.885C>T p.H295= Synonymous 5/20 - 1
17-78081629-TTCTACCTGGCGC-T c.891_902del p.F297_A300del InFrameDeletion 5/20 - 1
17-78081636-T-C c.896T>C p.L299P Missense 5/20 - 5
17-78081636-T-G c.896T>G p.L299R Missense 5/20 - 1
17-78081638-G-A c.898G>A p.A300T Missense 5/20 - 1
17-78081638-G-T c.898G>T p.A300S Missense 5/20 - 1
17-78081639-C-A c.899C>A p.A300E Missense 5/20 - 1
17-78081639-C-G c.899C>G p.A300G Missense 5/20 - 2
17-78081639-C-T c.899C>T p.A300V Missense 5/20 - 1
17-78081651-G-C c.911G>C p.G304A Missense 5/20 - 1
17-78081653-G-A c.913G>A p.G305R Missense 5/20 - 1
17-78081655-G-A c.915G>A p.G305= Synonymous 5/20 - 2
17-78081657-C-T c.917C>T p.S306L Missense 5/20 - 3
17-78081658-G-T c.918G>T p.S306= Synonymous 5/20 - 1
17-78081661-A-C c.921A>C p.A307= Synonymous 5/20 - 1
17-78081661-A-G c.921A>G p.A307= Synonymous 5/20 - 1
17-78081661-A-T c.921A>T p.A307= Synonymous 5/20 - 2
17-78081662-CA-AT c.922_923delinsAT p.H308I Missense 5/20 - 1
17-78081662-C-T c.922C>T p.H308Y Missense 5/20 - 1
17-78081663-A-C c.923A>C p.H308P Missense 5/20 - 8
17-78081663-A-T c.923A>T p.H308L Missense 5/20 - 1
17-78081665-G-A c.925G>A p.G309R Missense 5/20 - 27
17-78081665-G-C c.925G>C p.G309R Missense 5/20 - 2
17-78081666-G-C c.926G>C p.G309A Missense 5/20 - 1
17-78081668-GTGT-G c.930_932del p.F311del InFrameDeletion 5/20 - 2
17-78081672-T-TC c.934dup p.L312Pfs*18 Frameshift 5/20 - 1
17-78081675-T-C c.935T>C p.L312P Missense 5/20 - 1
17-78081678-T-C c.938T>C p.L313P Missense 5/20 - 1
17-78081681-A-C c.941A>C p.N314T Missense 5/20 - 1
17-78081682-C-A c.942C>A p.N314K Missense 5/20 - 1
17-78081684-G-A c.944G>A p.S315N Missense 5/20 - 1
17-78081684-G-C c.944G>C p.S315T Missense 5/20 - 3
17-78081687-A-G c.947A>G p.N316S Missense 5/20 - 5
17-78081687-A-T c.947A>T p.N316I Missense 5/20 - 1
17-78081690-C-T c.950C>T p.A317V Missense 5/20 - 2
17-78081693-T-C c.953T>C p.M318T Missense 5/20 - 10
17-78081696-G-A c.955+1G>A - IntronicSNV - 5/19 1
17-78081697-T-G c.955+2T>G - IntronicSNV - 5/19 1
17-78081707-G-A c.955+12G>A - IntronicSNV - 5/19 3
17-78081707-G-C c.955+12G>C - IntronicSNV - 5/19 2
17-78081850-C-A c.955+155C>A - IntronicSNV - 5/19 1
17-78081862-C-T c.955+167C>T - IntronicSNV - 5/19 1
17-78081982-G-A c.956-107G>A - IntronicSNV - 5/19 1
17-78081982-G-C c.956-107G>C - IntronicSNV - 5/19 1
17-78082005-C-T c.956-84C>T - IntronicSNV - 5/19 1
17-78082089-A-G c.956A>G p.D319G Missense 6/20 - 1
17-78082089-GA-G c.956del p.D319Vfs*73 Frameshift 6/20 - 1
17-78082095-GT-G c.962del p.V321Afs*71 Frameshift 6/20 - 1
17-78082095-T-C c.962T>C p.V321A Missense 6/20 - 2
17-78082098-T-A c.965T>A p.L322Q Missense 6/20 - 1
17-78082102-G-GC c.971dup p.S325Efs*5 Frameshift 6/20 - 1
17-78082106-AG-CC c.973_974delinsCC p.S325P Missense 6/20 - 1
17-78082113-C-T c.980C>T p.A327V Missense 6/20 - 1
17-78082115-CCTTAGCT-C c.982_988del p.L328Gfs*62 Frameshift 6/20 - 1
17-78082116-T-C c.983T>C p.L328P Missense 6/20 - 3
17-78082118-A-G c.985A>G p.S329G Missense 6/20 - 1
17-78082122-G-A c.989G>A p.W330* Nonsense 6/20 - 2
17-78082126-G-GTT c.994_995insTT p.S332Ffs*61 Frameshift 6/20 - 1
17-78082127-TC-GA c.994_995inv p.S332E Missense 6/20 - 1
17-78082128-C-T c.995C>T p.S332L Missense 6/20 - 1
17-78082133-G-T c.1000G>T p.G334C Missense 6/20 - 3
17-78082134-G-T c.1001G>T p.G334V Missense 6/20 - 1
17-78082136-G-A c.1003G>A p.G335R Missense 6/20 - 3
17-78082137-G-A c.1004G>A p.G335E Missense 6/20 - 1
17-78082137-G-C c.1004G>C p.G335A Missense 6/20 - 1
17-78082139-GATC-G c.1006_1008del p.I336del InFrameDeletion 6/20 - 1
17-78082146-A-T c.1013A>T p.D338V Missense 6/20 - 1
17-78082151-T-C c.1018T>C p.Y340H Missense 6/20 - 1
17-78082152-A-G c.1019A>G p.Y340C Missense 6/20 - 2
17-78082169-AG-A c.1036del p.E346Sfs*46 Frameshift 6/20 - 1
17-78082169-G-A c.1036G>A p.E346K Missense 6/20 - 1
17-78082172-C-G c.1039C>G p.P347A Missense 6/20 - 1
17-78082172-C-T c.1039C>T p.P347S Missense 6/20 - 1
17-78082173-C-G c.1040C>G p.P347R Missense 6/20 - 2
17-78082180-C-T c.1047C>T p.S349= Synonymous 6/20 - 1
17-78082180-GC-G c.1047del p.S349Rfs*43 Frameshift 6/20 - 1
17-78082181-G-A c.1048G>A p.V350M Missense 6/20 - 2
17-78082182-TG-T c.1051del p.V351Cfs*41 Frameshift 6/20 - 4
17-78082187-C-T c.1054C>T p.Q352* Nonsense 6/20 - 2
17-78082190-C-T c.1057C>T p.Q353* Nonsense 6/20 - 3
17-78082190-GC-G c.1057del p.Q353Sfs*39 Frameshift 6/20 - 2
17-78082195-C-A c.1062C>A p.Y354* Nonsense 6/20 - 2
17-78082195-C-G c.1062C>G p.Y354* Nonsense 6/20 - 5
17-78082196-CCTG-C c.1063_1065del p.L355del InFrameDeletion 6/20 - 1
17-78082197-T-C c.1064T>C p.L355P Missense 6/20 - 12
17-78082199-G-A c.1066G>A p.D356N Missense 6/20 - 1
17-78082200-A-G c.1067A>G p.D356G Missense 6/20 - 1
17-78082206-TG-GTAGCAGGAGGTGGCCTGCA c.1073_1074delinsGTAGCAGGAGGTGGCCTGCA p.V358delinsGSRRWPA MultiAAMissense 6/20 - 1
17-78082208-G-A c.1075G>A p.G359R Missense 6/20 - 3
17-78082208-G-T c.1075G>T p.G359* Nonsense 6/20 - 3
17-78082209-G-T c.1075+1G>T - IntronicSNV - 6/19 1
17-78082210-T-C c.1075+2T>C - IntronicSNV - 6/19 1
17-78082221-C-T c.1075+13C>T - IntronicSNV - 6/19 2
17-78082292-C-G c.1080C>G p.Y360* Nonsense 7/20 - 1
17-78082294-C-A c.1082C>A p.P361Q Missense 7/20 - 3
17-78082294-C-G c.1082C>G p.P361R Missense 7/20 - 2
17-78082294-C-T c.1082C>T p.P361L Missense 7/20 - 16
17-78082302-C-T c.1090C>T p.P364S Missense 7/20 - 1
17-78082309-A-G c.1097A>G p.Y366C Missense 7/20 - 1
17-78082311-T-C c.1099T>C p.W367R Missense 7/20 - 11
17-78082311-T-G c.1099T>G p.W367G Missense 7/20 - 1
17-78082313-G-A c.1101G>A p.W367* Nonsense 7/20 - 2
17-78082315-G-A c.1103G>A p.G368D Missense 7/20 - 1
17-78082318-T-A c.1106T>A p.L369Q Missense 7/20 - 1
17-78082318-T-C c.1106T>C p.L369P Missense 7/20 - 1
17-78082321-G-A c.1109G>A p.G370D Missense 7/20 - 2
17-78082326-C-G c.1114C>G p.H372D Missense 7/20 - 2
17-78082326-C-T c.1114C>T p.H372Y Missense 7/20 - 3
17-78082327-A-T c.1115A>T p.H372L Missense 7/20 - 7
17-78082330-T-G c.1118T>G p.L373R Missense 7/20 - 3
17-78082333-G-A c.1121G>A p.C374Y Missense 7/20 - 2
17-78082333-G-T c.1121G>T p.C374F Missense 7/20 - 1
17-78082336-G-A c.1124G>A p.R375H Missense 7/20 - 2
17-78082336-G-T c.1124G>T p.R375L Missense 7/20 - 5
17-78082339-TGGGG-T c.1127_1130del p.W376Sfs*15 Frameshift 7/20 - 1
17-78082340-G-A c.1128G>A p.W376* Nonsense 7/20 - 1
17-78082340-GG-C c.1128_1129delinsC p.W376Cfs*16 Frameshift 7/20 - 3
17-78082341-G-A c.1129G>A p.G377S Missense 7/20 - 3
17-78082341-G-C c.1129G>C p.G377R Missense 7/20 - 5
17-78082341-G-T c.1129G>T p.G377C Missense 7/20 - 1
17-78082346-C-G c.1134C>G p.Y378* Nonsense 7/20 - 1
17-78082354-C-T c.1142C>T p.T381I Missense 7/20 - 1
17-78082353-AC-A c.1143del p.A382Lfs*10 Frameshift 7/20 - 4
17-78082355-C-G c.1143C>G p.T381= Synonymous 7/20 - 1
17-78082356-G-A c.1144G>A p.A382T Missense 7/20 - 1
17-78082363-CC-TG c.1151_1152delinsTG p.T384M Missense 7/20 - 1
17-78082362-AC-A c.1153del p.R385Afs*7 Frameshift 7/20 - 1
17-78082366-G-A c.1154G>A p.R385H Missense 7/20 - 1
17-78082367-C-A c.1155C>A p.R385= Synonymous 7/20 - 1
17-78082368-C-T c.1156C>T p.Q386* Nonsense 7/20 - 3
17-78082368-C-CA c.1157dup p.V387Gfs*119 Frameshift 7/20 - 4
17-78082370-G-C c.1158G>C p.Q386H Missense 7/20 - 1
17-78082370-G-T c.1158G>T p.Q386H Missense 7/20 - 1
17-78082369-AGGT-A c.1163_1165del p.V388del InFrameDeletion 7/20 - 1
17-78082375-TG-T c.1165del p.E389Rfs*3 Frameshift 7/20 - 1
17-78082377-GA-CC c.1165_1166delinsCC p.E389P Missense 7/20 - 1
17-78082382-AC-A c.1170del p.N390Kfs*2 Frameshift 7/20 - 1
17-78082386-A-T c.1174A>T p.T392S Missense 7/20 - 1
17-78082388-C-CT c.1176_1177insT p.R393* Nonsense 7/20 - 1
17-78082402-C-T c.1190C>T p.P397L Missense 7/20 - 2
17-78082399-TC-T c.1192del p.L398Wfs*42 Frameshift 7/20 - 1
17-78082399-T-TC c.1192dup p.L398Pfs*108 SpliceDonorInsertion 7/20 - 1
17-78082405-CT-C c.1193del p.L398Rfs*42 Frameshift 7/20 - 2
17-78082408-T-A c.1194+2T>A - IntronicSNV - 7/19 2
17-78082408-T-C c.1194+2T>C - IntronicSNV - 7/19 2
17-78082409-G-C c.1194+3G>C - IntronicSNV - 7/19 1
17-78082411-G-A c.1194+5G>A - IntronicSNV - 7/19 2
17-78082488-G-A c.1195-8G>A - IntronicSNV - 7/19 1
17-78082496-GACGTCCAGTGGA-G c.1199_1210del p.V400_N403del InFrameDeletion 8/20 - 1
17-78082502-C-A c.1201C>A p.Q401K Missense 8/20 - 2
17-78082504-G-A c.1203G>A p.Q401= Synonymous 8/20 - 7
17-78082506-G-A c.1205G>A p.W402* Nonsense 8/20 - 1
17-78082506-G-T c.1205G>T p.W402L Missense 8/20 - 1
17-78082510-AC-A c.1209del p.N403Kfs*37 Frameshift 8/20 - 4
17-78082510-C-A c.1209C>A p.N403K Missense 8/20 - 1
17-78082511-G-A c.1210G>A p.D404N Missense 8/20 - 9
17-78082512-A-C c.1211A>C p.D404A Missense 8/20 - 2
17-78082512-A-G c.1211A>G p.D404G Missense 8/20 - 1
17-78082512-A-T c.1211A>T p.D404V Missense 8/20 - 3
17-78082513-C-G c.1212C>G p.D404E Missense 8/20 - 1
17-78082517-G-A c.1216G>A p.D406N Missense 8/20 - 6
17-78082517-G-C c.1216G>C p.D406H Missense 8/20 - 1
17-78082520-T-C c.1219T>C p.Y407H Missense 8/20 - 1
17-78082521-A-G c.1220A>G p.Y407C Missense 8/20 - 2
17-78082522-AC-A c.1221del p.Y407* Frameshift 8/20 - 1
17-78082522-C-A c.1221C>A p.Y407* Nonsense 8/20 - 3
17-78082524-T-TG c.1225dup p.D409Gfs*97 Frameshift 8/20 - 2
17-78082526-G-C c.1225G>C p.D409H Missense 8/20 - 3
17-78082526-G-T c.1225G>T p.D409Y Missense 8/20 - 1
17-78082526-G-GA c.1226dup p.D409Efs*97 Frameshift 8/20 - 1
17-78082527-A-AG c.1226_1227insG p.D409Efs*97 Frameshift 8/20 - 2
17-78082527-A-G c.1226A>G p.D409G Missense 8/20 - 2
17-78082527-A-T c.1226A>T p.D409V Missense 8/20 - 2
17-78082530-C-T c.1229C>T p.S410F Missense 8/20 - 1
17-78082529-TC-T c.1231del p.R411Gfs*29 Frameshift 8/20 - 1
17-78082533-G-A c.1232G>A p.R411Q Missense 8/20 - 1
17-78082537-G-C c.1236G>C p.R412S Missense 8/20 - 1
17-78082537-G-T c.1236G>T p.R412S Missense 8/20 - 1
17-78082541-T-C c.1240T>C p.F414L Missense 8/20 - 1
17-78082540-CT-C c.1241del p.F414Sfs*26 Frameshift 8/20 - 1
17-78082543-C-A c.1242C>A p.F414L Missense 8/20 - 2
17-78082544-AC-GG c.1243_1244delinsGG p.T415G Missense 8/20 - 1
17-78082545-C-T c.1244C>T p.T415M Missense 8/20 - 4
17-78082550-AA-TT c.1249_1250inv p.N417F Missense 8/20 - 1
17-78082550-A-C c.1249A>C p.N417H Missense 8/20 - 1
17-78082552-C-A c.1251C>A p.N417K Missense 8/20 - 1
17-78082552-C-G c.1251C>G p.N417K Missense 8/20 - 1
17-78082557-A-T c.1256A>T p.D419V Missense 8/20 - 3
17-78082569-A-G c.1268A>G p.D423G Missense 8/20 - 1
17-78082578-C-T c.1277C>T p.A426V Missense 8/20 - 1
17-78082582-G-T c.1281G>T p.M427I Missense 8/20 - 3
17-78082587-A-G c.1286A>G p.Q429R Missense 8/20 - 3
17-78082589-GAGCTGCACC-G c.1291_1299del p.L431_Q433del InFrameDeletion 8/20 - 1
17-78082590-AGCTGCACCAGGGCGGCCGGC-A c.1293_1312del p.Q433Dfs*66 Frameshift 8/20 - 4
17-78082591-GCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGT-G c.1293_1326+25del - SpliceDonorDeletion 8/20 8/19 1
17-78082598-C-A c.1297C>A p.Q433K Missense 8/20 - 1
17-78082599-A-C c.1298A>C p.Q433P Missense 8/20 - 1
17-78082600-G-C c.1299G>C p.Q433H Missense 8/20 - 1
17-78082601-GGC-G c.1302_1303del p.G435Pfs*70 Frameshift 8/20 - 1
17-78082607-CG-AC c.1306_1307delinsAC p.R436T Missense 8/20 - 1
17-78082607-C-T c.1306C>T p.R436W Missense 8/20 - 1
17-78082606-CCGG-C c.1308_1310del p.R437del InFrameDeletion 8/20 - 1
17-78082610-C-T c.1309C>T p.R437C Missense 8/20 - 6
17-78082616-A-G c.1315A>G p.M439V Missense 8/20 - 1
17-78082617-T-A c.1316T>A p.M439K Missense 8/20 - 21
17-78082615-CATG-C c.1320_1322del p.M440del InFrameDeletion 8/20 - 3
17-78082623-ATCGTGGTGTGTGCC-A c.1322_1326+9del - SpliceDonorDeletion 8/20 8/19 2
17-78082625-G-A c.1324G>A p.V442M Missense 8/20 - 1
17-78082625-GTG-ATC c.1324_1326delinsATC p.V442I Missense 8/20 - 1
17-78082626-T-A c.1325T>A p.V442E Missense 8/20 - 1
17-78082628-G-A c.1326+1G>A - IntronicSNV - 8/19 2
17-78082759-G-A c.1326+132G>A - IntronicSNV - 8/19 1
17-78083086-C-T c.1326+459C>T - IntronicSNV - 8/19 1
17-78083087-G-A c.1326+460G>A - IntronicSNV - 8/19 1
17-78083230-G-A c.1327-514G>A - IntronicSNV - 8/19 1
17-78083388-G-T c.1327-356G>T - IntronicSNV - 8/19 1
17-78083475-A-G c.1327-269A>G - IntronicSNV - 8/19 2
17-78083535-C-T c.1327-209C>T - IntronicSNV - 8/19 1
17-78083565-G-A c.1327-179G>A - IntronicSNV - 8/19 2
17-78083565-G-C c.1327-179G>C - IntronicSNV - 8/19 2
17-78083626-A-G c.1327-118A>G - IntronicSNV - 8/19 1
17-78083726-A-G c.1327-18A>G - IntronicSNV - 8/19 4
17-78083743-GGATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCT-G c.1328_1386del p.D443Afs*43 InFrameDeletion 9/20 - 3
17-78083745-A-T c.1328A>T p.D443V Missense 9/20 - 1
17-78083748-C-G c.1331C>G p.P444R Missense 9/20 - 1
17-78083750-G-A c.1333G>A p.A445T Missense 9/20 - 1
17-78083750-G-C c.1333G>C p.A445P Missense 9/20 - 4
17-78083751-C-G c.1334C>G p.A445G Missense 9/20 - 1
17-78083753-A-G c.1336A>G p.I446V Missense 9/20 - 1
17-78083756-AGC-TGA c.1339_1341delinsTGA p.S447* Nonsense 9/20 - 3
17-78083758-C-CT c.1341_1342insT p.S448* Nonsense 9/20 - 1
17-78083763-C-T c.1346C>T p.S449L Missense 9/20 - 1
17-78083766-G-A c.1349G>A p.G450D Missense 9/20 - 1
17-78083768-C-T c.1351C>T p.P451S Missense 9/20 - 2
17-78083769-C-G c.1352C>G p.P451R Missense 9/20 - 1
17-78083764-GGGCCCTGCCGGGAGCTACA-G c.1354_1372del p.A452Tfs*19 Frameshift 9/20 - 1
17-78083771-GC-TG c.1354_1355delinsTG p.A452C Missense 9/20 - 1
17-78083771-GC-G c.1356del p.S454Afs*23 Frameshift 9/20 - 3
17-78083774-G-A c.1357G>A p.G453R Missense 9/20 - 1
17-78083773-CGGGA-C c.1358_1361del p.G453Afs*23 Frameshift 9/20 - 1
17-78083781-A-G c.1364A>G p.Y455C Missense 9/20 - 3
17-78083781-A-T c.1364A>T p.Y455F Missense 9/20 - 6
17-78083784-G-T c.1367G>T p.R456M Missense 9/20 - 1
17-78083787-C-T c.1370C>T p.P457L Missense 9/20 - 1
17-78083791-C-T c.1374C>T p.Y458= Synonymous 9/20 - 4
17-78083792-G-A c.1375G>A p.D459N Missense 9/20 - 2
17-78083792-G-C c.1375G>C p.D459H Missense 9/20 - 2
17-78083794-C-G c.1377C>G p.D459E Missense 9/20 - 1
17-78083795-G-A c.1378G>A p.E460K Missense 9/20 - 1
17-78083795-G-T c.1378G>T p.E460* Nonsense 9/20 - 2
17-78083798-G-A c.1381G>A p.G461S Missense 9/20 - 2
17-78083799-G-A c.1382G>A p.G461D Missense 9/20 - 1
17-78083802-T-A c.1385T>A p.L462Q Missense 9/20 - 1
17-78083802-T-C c.1385T>C p.L462P Missense 9/20 - 1
17-78083804-C-A c.1387C>A p.R463= Synonymous 9/20 - 1
17-78083804-CGG-TGT c.1387_1389delinsTGT p.R463C Missense 9/20 - 1
17-78083806-G-A c.1389G>A p.R463= Synonymous 9/20 - 1
17-78083806-G-C c.1389G>C p.R463= Synonymous 9/20 - 1
17-78083806-G-T c.1389G>T p.R463= Synonymous 9/20 - 1
17-78083803-GCGGAGGGGGGTTTTCATCA-G c.1388_1406del p.R463Pfs*8 Frameshift 9/20 - 2
17-78083807-A-T c.1390A>T p.R464W Missense 9/20 - 1
17-78083809-G-C c.1392G>C p.R464S Missense 9/20 - 2
17-78083809-G-T c.1392G>T p.R464S Missense 9/20 - 1
17-78083807-A-AG c.1396dup p.V466Gfs*40 Frameshift 9/20 - 3
17-78083807-AG-A c.1396del p.V466Ffs*11 Frameshift 9/20 - 5
17-78083813-G-T c.1396G>T p.V466F Missense 9/20 - 2
17-78083819-A-T c.1402A>T p.I468F Missense 9/20 - 5
17-78083823-CCAA-C c.1408_1410del p.N470del InFrameDeletion 9/20 - 3
17-78083826-A-C c.1409A>C p.N470T Missense 9/20 - 3
17-78083826-A-G c.1409A>G p.N470S Missense 9/20 - 3
17-78083828-CGAGA-C c.1411_1414del p.E471Pfs*5 Frameshift 9/20 - 9
17-78083831-AC-TG c.1414_1415delinsTG p.T472C Missense 9/20 - 1
17-78083835-G-C c.1418G>C p.G473A Missense 9/20 - 1
17-78083837-C-T c.1420C>T p.Q474* Nonsense 9/20 - 1
17-78083840-C-G c.1423C>G p.P475A Missense 9/20 - 1
17-78083841-C-T c.1424C>T p.P475L Missense 9/20 - 1
17-78083843-C-A c.1426C>A p.L476M Missense 9/20 - 1
17-78083846-AT-A c.1431del p.I477Mfs*43 Frameshift 9/20 - 3
17-78083849-G-A c.1432G>A p.G478R Missense 9/20 - 1
17-78083852-GAA-G c.1435_1436del p.K479Gfs*26 SpliceDonorDeletion 9/20 - 1
17-78083853-AG-TC c.1436_1437delinsTC p.K479I Missense 9/20 - 1
17-78083854-G-A c.1437G>A p.K479= Synonymous 9/20 - 3
17-78083854-G-C c.1437G>C p.K479N Missense 9/20 - 1
17-78083855-G-A c.1437+1G>A - IntronicSNV - 9/19 7
17-78083856-T-C c.1437+2T>C - IntronicSNV - 9/19 9
17-78084306-A-G c.1438-220A>G - IntronicSNV - 9/19 2
17-78084418-G-A c.1438-108G>A - IntronicSNV - 9/19 2
17-78084507-G-C c.1438-19G>C - IntronicSNV - 9/19 3
17-78084527-TATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGG-T c.1441_1499del p.W481Gfs*5 InFrameDeletion 10/20 - 1
17-78084529-AT-A c.1441del p.W481Gfs*39 Frameshift 10/20 - 3
17-78084529-T-C c.1441T>C p.W481R Missense 10/20 - 8
17-78084530-G-A c.1442G>A p.W481* Nonsense 10/20 - 1
17-78084533-C-G c.1445C>G p.P482R Missense 10/20 - 2
17-78084533-C-T c.1445C>T p.P482L Missense 10/20 - 1
17-78084531-GC-G c.1446del p.S484Pfs*36 Frameshift 10/20 - 1
17-78084535-G-A c.1447G>A p.G483R Missense 10/20 - 13
17-78084535-G-T c.1447G>T p.G483W Missense 10/20 - 3
17-78084536-G-T c.1448G>T p.G483V Missense 10/20 - 2
17-78084535-GGGTCCACT-G c.1449_1456del p.S484Lfs*19 Frameshift 10/20 - 1
17-78084538-T-C c.1450T>C p.S484P Missense 10/20 - 1
17-78084544-G-C c.1456G>C p.A486P Missense 10/20 - 2
17-78084544-G-T c.1456G>T p.A486S Missense 10/20 - 1
17-78084548-T-C c.1460T>C p.F487S Missense 10/20 - 1
17-78084548-T-TC c.1464dup p.D489Rfs*17 Frameshift 10/20 - 2
17-78084553-G-A c.1465G>A p.D489N Missense 10/20 - 9
17-78084553-G-T c.1465G>T p.D489Y Missense 10/20 - 2
17-78084554-A-G c.1466A>G p.D489G Missense 10/20 - 4
17-78084556-T-C c.1468T>C p.F490L Missense 10/20 - 3
17-78084555-C-CT c.1469dup p.T491Hfs*15 Frameshift 10/20 - 1
17-78084557-T-C c.1469T>C p.F490S Missense 10/20 - 4
17-78084558-C-A c.1470C>A p.F490L Missense 10/20 - 2
17-78084565-C-T c.1477C>T p.P493S Missense 10/20 - 3
17-78084566-C-T c.1478C>T p.P493L Missense 10/20 - 6
17-78084570-A-G c.1482A>G p.T494= Synonymous 10/20 - 1
17-78084570-CA-C c.1482del p.A495Pfs*25 Frameshift 10/20 - 1
17-78084571-G-A c.1483G>A p.A495T Missense 10/20 - 2
17-78084571-G-C c.1483G>C p.A495P Missense 10/20 - 1
17-78084578-C-G c.1490C>G p.A497G Missense 10/20 - 1
17-78084581-G-A c.1493G>A p.W498* Nonsense 10/20 - 1
17-78084582-G-A c.1494G>A p.W498* Nonsense 10/20 - 1
17-78084583-T-A c.1495T>A p.W499R Missense 10/20 - 2
17-78084583-T-C c.1495T>C p.W499R Missense 10/20 - 2
17-78084584-G-A c.1496G>A p.W499* Nonsense 10/20 - 4
17-78084585-G-A c.1497G>A p.W499* Nonsense 10/20 - 1
17-78084585-GGAGGACATGGTGGCT-G c.1501_1515del p.D501_E505del InFrameDeletion 10/20 - 1
17-78084592-A-G c.1504A>G p.M502V Missense 10/20 - 2
17-78084593-TG-T c.1507del p.V503Wfs*17 Frameshift 10/20 - 1
17-78084597-G-A c.1509G>A p.V503= Synonymous 10/20 - 1
17-78084597-G-C c.1509G>C p.V503= Synonymous 10/20 - 1
17-78084597-G-T c.1509G>T p.V503= Synonymous 10/20 - 1
17-78084599-C-T c.1511C>T p.A504V Missense 10/20 - 1
17-78084600-T-A c.1512T>A p.A504= Synonymous 10/20 - 1
17-78084600-T-C c.1512T>C p.A504= Synonymous 10/20 - 1
17-78084600-T-G c.1512T>G p.A504= Synonymous 10/20 - 1
17-78084604-GTT-G c.1516_1517del p.F506Pfs*2 Frameshift 10/20 - 1
17-78084603-GT-G c.1517del p.F506Sfs*14 Frameshift 10/20 - 1
17-78084611-A-C c.1523A>C p.D508A Missense 10/20 - 1
17-78084614-A-T c.1526A>T p.Q509L Missense 10/20 - 2
17-78084618-G-A c.1530G>A p.V510= Synonymous 10/20 - 1
17-78084618-G-C c.1530G>C p.V510= Synonymous 10/20 - 1
17-78084618-G-T c.1530G>T p.V510= Synonymous 10/20 - 1
17-78084619-C-A c.1531C>A p.P511T Missense 10/20 - 1
17-78084619-CCC-AAG c.1531_1533delinsAAG p.P511K Missense 10/20 - 1
17-78084620-C-A c.1532C>A p.P511H Missense 10/20 - 2
17-78084625-G-A c.1537G>A p.D513N Missense 10/20 - 1
17-78084626-A-G c.1538A>G p.D513G Missense 10/20 - 2
17-78084627-C-A c.1539C>A p.D513E Missense 10/20 - 1
17-78084627-C-G c.1539C>G p.D513E Missense 10/20 - 1
17-78084635-G-A c.1547G>A p.W516* Nonsense 10/20 - 4
17-78084636-G-A c.1548G>A p.W516* Nonsense 10/20 - 25
17-78084637-GATT-G c.1549_1551del p.I517del InFrameDeletion 10/20 - 2
17-78084638-T-C c.1550T>C p.I517T Missense 10/20 - 1
17-78084640-G-A c.1551+1G>A - IntronicSNV - 10/19 5
17-78084640-G-C c.1551+1G>C - IntronicSNV - 10/19 6
17-78084640-G-T c.1551+1G>T - IntronicSNV - 10/19 3
17-78084641-T-G c.1551+2T>G - IntronicSNV - 10/19 1
17-78084642-A-T c.1551+3A>T - IntronicSNV - 10/19 2
17-78084644-G-A c.1551+5G>A - IntronicSNV - 10/19 1
17-78084681-G-A c.1551+42G>A - IntronicSNV - 10/19 1
17-78084688-C-A c.1551+49C>A - IntronicSNV - 10/19 2
17-78084688-C-T c.1551+49C>T - IntronicSNV - 10/19 1
17-78084737-C-G c.1552-3C>G - IntronicSNV - 10/19 1
17-78084740-G-A c.1552G>A p.D518N Missense 11/20 - 1
17-78084743-A-G c.1555A>G p.M519V Missense 11/20 - 2
17-78084744-T-C c.1556T>C p.M519T Missense 11/20 - 2
17-78084745-G-A c.1557G>A p.M519I Missense 11/20 - 1
17-78084747-A-G c.1559A>G p.N520S Missense 11/20 - 2
17-78084748-C-A c.1560C>A p.N520K Missense 11/20 - 1
17-78084748-C-G c.1560C>G p.N520K Missense 11/20 - 1
17-78084749-G-A c.1561G>A p.E521K Missense 11/20 - 5
17-78084750-A-T c.1562A>T p.E521V Missense 11/20 - 4
17-78084752-C-G c.1564C>G p.P522A Missense 11/20 - 6
17-78084752-C-T c.1564C>T p.P522S Missense 11/20 - 2
17-78084762-T-A c.1574T>A p.F525Y Missense 11/20 - 1
17-78084765-T-G c.1577T>G p.I526S Missense 11/20 - 1
17-78084766-C-A c.1578C>A p.I526= Synonymous 11/20 - 1
17-78084766-C-T c.1578C>T p.I526= Synonymous 11/20 - 1
17-78084767-AGG-TTT c.1579_1581delinsTTT p.R527F Missense 11/20 - 1
17-78084767-CA-C c.1579del p.R527Gfs*51 Frameshift 11/20 - 3
17-78084767-CAG-C c.1579_1580del p.R527Gfs*3 Frameshift 11/20 - 5
17-78084767-A-C c.1579A>C p.R527= Synonymous 11/20 - 2
17-78084769-G-A c.1581G>A p.R527= Synonymous 11/20 - 7
17-78084767-AGG-A c.1582_1583del p.G528Lfs*2 Frameshift 11/20 - 1
17-78084771-G-C c.1583G>C p.G528A Missense 11/20 - 1
17-78084773-TC-GT c.1585_1586delinsGT p.S529V Missense 11/20 - 3
17-78084777-A-AG c.1591dup p.D531Gfs*7 Frameshift 11/20 - 1
17-78084780-A-G c.1592A>G p.D531G Missense 11/20 - 1
17-78084782-G-A c.1594G>A p.G532S Missense 11/20 - 3
17-78084785-T-C c.1597T>C p.C533R Missense 11/20 - 1
17-78084785-T-G c.1597T>G p.C533G Missense 11/20 - 1
17-78084790-CAAC-AGG c.1602_1605delinsAGG p.N535Gfs*43 Frameshift 11/20 - 1
17-78084795-A-G c.1607A>G p.N536S Missense 11/20 - 2
17-78084798-GA-G c.1610del p.E537Gfs*41 Frameshift 11/20 - 1
17-78084807-A-T c.1619A>T p.N540I Missense 11/20 - 1
17-78084809-C-T c.1621C>T p.P541S Missense 11/20 - 1
17-78084814-C-G c.1626C>G p.P542= Synonymous 11/20 - 2
17-78084815-T-G c.1627T>G p.Y543D Missense 11/20 - 3
17-78084817-C-G c.1629C>G p.Y543* Nonsense 11/20 - 1
17-78084819-T-A c.1631T>A p.V544E Missense 11/20 - 1
17-78084822-C-T c.1634C>T p.P545L Missense 11/20 - 19
17-78084824-G-C c.1636G>C p.G546R Missense 11/20 - 1
17-78084825-G-C c.1636+1G>C - IntronicSNV - 11/19 1
17-78084829-G-A c.1636+5G>A - IntronicSNV - 11/19 2
17-78084829-G-C c.1636+5G>C - IntronicSNV - 11/19 1
17-78084829-G-T c.1636+5G>T - IntronicSNV - 11/19 1
17-78084852-G-T c.1636+28G>T - IntronicSNV - 11/19 1
17-78084867-G-T c.1636+43G>T - IntronicSNV - 11/19 2
17-78084941-C-T c.1636+117C>T - IntronicSNV - 11/19 1
17-78084941-GC-G c.1636+117del - IntronicDeletion - 11/19 1
17-78084942-G-T c.1636+118G>T - IntronicSNV - 11/19 1
17-78085029-C-T c.1636+205C>T - IntronicSNV - 11/19 1
17-78085034-G-A c.1636+210G>A - IntronicSNV - 11/19 2
17-78085093-C-T c.1636+269C>T - IntronicSNV - 11/19 1
17-78085108-G-C c.1636+284G>C - IntronicSNV - 11/19 1
17-78085213-C-G c.1636+389C>G - IntronicSNV - 11/19 1
17-78085214-A-G c.1636+390A>G - IntronicSNV - 11/19 1
17-78085228-A-G c.1636+404A>G - IntronicSNV - 11/19 1
17-78085597-A-G c.1637-185A>G - IntronicSNV - 11/19 1
17-78085787-G-T c.1642G>T p.V548F Missense 12/20 - 8
17-78085790-G-A c.1645G>A p.G549R Missense 12/20 - 5
17-78085790-G-C c.1645G>C p.G549R Missense 12/20 - 6
17-78085791-G-A c.1646G>A p.G549E Missense 12/20 - 1
17-78085789-TG-T c.1650del p.T551Pfs*27 Frameshift 12/20 - 2
17-78085789-T-TG c.1650dup p.T551Dfs*85 Frameshift 12/20 - 5
17-78085796-A-G c.1651A>G p.T551A Missense 12/20 - 1
17-78085796-A-T c.1651A>T p.T551S Missense 12/20 - 1
17-78085797-C-T c.1652C>T p.T551I Missense 12/20 - 1
17-78085796-AC-A c.1654del p.L552Sfs*26 Frameshift 12/20 - 5
17-78085800-T-C c.1655T>C p.L552P Missense 12/20 - 38
17-78085802-C-T c.1657C>T p.Q553* Nonsense 12/20 - 6
17-78085812-C-T c.1667C>T p.T556I Missense 12/20 - 1
17-78085814-A-T c.1669A>T p.I557F Missense 12/20 - 4
17-78085815-T-G c.1670T>G p.I557S Missense 12/20 - 1
17-78085832-C-T c.1687C>T p.Q563* Nonsense 12/20 - 6
17-78085833-A-G c.1688A>G p.Q563R Missense 12/20 - 1
17-78085833-A-T c.1688A>T p.Q563L Missense 12/20 - 1
17-78085836-TTCTC-T c.1694_1697del p.L565Pfs*12 Frameshift 12/20 - 3
17-78085841-T-C c.1696T>C p.S566P Missense 12/20 - 2
17-78085844-AC-GA c.1699_1700delinsGA p.T567E Missense 12/20 - 1
17-78085844-A-G c.1699A>G p.T567A Missense 12/20 - 1
17-78085848-A-T c.1703A>T p.H568L Missense 12/20 - 2
17-78085849-C-CT c.1705dup p.Y569Lfs*67 Frameshift 12/20 - 3
17-78085855-C-G c.1710C>G p.N570K Missense 12/20 - 4
17-78085861-C-A c.1716C>A p.H572Q Missense 12/20 - 1
17-78085861-C-G c.1716C>G p.H572Q Missense 12/20 - 5
17-78085864-C-A c.1719C>A p.N573K Missense 12/20 - 1
17-78085866-T-C c.1721T>C p.L574P Missense 12/20 - 3
17-78085867-C-A c.1722C>A p.L574= Synonymous 12/20 - 1
17-78085867-C-G c.1722C>G p.L574= Synonymous 12/20 - 1
17-78085867-C-T c.1722C>T p.L574= Synonymous 12/20 - 1
17-78085869-A-C c.1724A>C p.Y575S Missense 12/20 - 3
17-78085870-C-A c.1725C>A p.Y575* Nonsense 12/20 - 1
17-78085871-G-A c.1726G>A p.G576S Missense 12/20 - 56
17-78085871-G-C c.1726G>C p.G576R Missense 12/20 - 2
17-78085880-G-A c.1735G>A p.E579K Missense 12/20 - 5
17-78085879-CGAA-C c.1736_1738del p.E579del InFrameDeletion 12/20 - 1
17-78085890-C-T c.1745C>T p.A582V Missense 12/20 - 1
17-78085898-CAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTT-C c.1753_1754+57del - SpliceDonorDeletion 12/20 12/19 2
17-78085898-A-AG c.1754+1dup - SpliceDonorInsertion - 12/19 2
17-78085898-AGGTGAGGGCCAC-A c.1754+1_1754+12del - SpliceDonorDeletion - 12/19 1
17-78085900-G-A c.1754+1G>A - IntronicSNV - 12/19 3
17-78085901-T-A c.1754+2T>A - IntronicSNV - 12/19 5
17-78085901-T-C c.1754+2T>C - IntronicSNV - 12/19 1
17-78085911-G-A c.1754+12G>A - IntronicSNV - 12/19 1
17-78085999-C-T c.1754+100C>T - IntronicSNV - 12/19 1
17-78086003-C-G c.1754+104C>G - IntronicSNV - 12/19 1
17-78086043-C-T c.1754+144C>T - IntronicSNV - 12/19 1
17-78086191-A-G c.1755-186A>G - IntronicSNV - 12/19 1
17-78086379-C-T c.1757C>T p.A586V Missense 13/20 - 4
17-78086381-C-T c.1759C>T p.L587= Synonymous 13/20 - 1
17-78086382-T-C c.1760T>C p.L587P Missense 13/20 - 1
17-78086389-G-A c.1767G>A p.K589= Synonymous 13/20 - 1
17-78086397-GGGA-G c.1775_1777del p.G592_T593delinsA MultiAAMissense 13/20 - 1
17-78086399-GA-G c.1777del p.T593Hfs*5 Frameshift 13/20 - 1
17-78086402-C-T c.1780C>T p.R594C Missense 13/20 - 1
17-78086403-G-A c.1781G>A p.R594H Missense 13/20 - 6
17-78086404-C-A c.1782C>A p.R594= Synonymous 13/20 - 1
17-78086404-C-G c.1782C>G p.R594= Synonymous 13/20 - 1
17-78086404-C-T c.1782C>T p.R594= Synonymous 13/20 - 1
17-78086405-C-T c.1783C>T p.P595S Missense 13/20 - 2
17-78086406-C-T c.1784C>T p.P595L Missense 13/20 - 1
17-78086411-GTG-TGT c.1789_1791delinsTGT p.V597C Missense 13/20 - 1
17-78086414-A-G c.1792A>G p.I598V Missense 13/20 - 1
17-78086416-C-G c.1794C>G p.I598M Missense 13/20 - 1
17-78086418-C-A c.1796C>A p.S599Y Missense 13/20 - 3
17-78086418-C-G c.1796C>G p.S599C Missense 13/20 - 1
17-78086418-C-T c.1796C>T p.S599F Missense 13/20 - 1
17-78086420-C-G c.1798C>G p.R600G Missense 13/20 - 1
17-78086420-C-T c.1798C>T p.R600C Missense 13/20 - 14
17-78086421-G-A c.1799G>A p.R600H Missense 13/20 - 9
17-78086421-G-C c.1799G>C p.R600P Missense 13/20 - 1
17-78086421-G-T c.1799G>T p.R600L Missense 13/20 - 2
17-78086424-C-A c.1802C>A p.S601* Nonsense 13/20 - 1
17-78086424-C-G c.1802C>G p.S601W Missense 13/20 - 2
17-78086424-C-T c.1802C>T p.S601L Missense 13/20 - 18
17-78086427-C-T c.1805C>T p.T602I Missense 13/20 - 4
17-78086432-G-A c.1810G>A p.A604T Missense 13/20 - 1
17-78086443-C-A c.1821C>A p.G607= Synonymous 13/20 - 1
17-78086443-C-T c.1821C>T p.G607= Synonymous 13/20 - 1
17-78086442-GC-G c.1822del p.R608Dfs*88 Frameshift 13/20 - 1
17-78086444-C-T c.1822C>T p.R608* Nonsense 13/20 - 11
17-78086447-T-G c.1825T>G p.Y609D Missense 13/20 - 2
17-78086447-T-TA c.1826dup p.Y609* Nonsense 13/20 - 8
17-78086449-AC-A c.1827del p.Y609* Frameshift 13/20 - 7
17-78086449-C-G c.1827C>G p.Y609* Nonsense 13/20 - 4
17-78086451-C-T c.1829C>T p.A610V Missense 13/20 - 2
17-78086452-C-A c.1830C>A p.A610= Synonymous 13/20 - 1
17-78086452-C-G c.1830C>G p.A610= Synonymous 13/20 - 1
17-78086452-C-T c.1830C>T p.A610= Synonymous 13/20 - 2
17-78086453-G-A c.1831G>A p.G611S Missense 13/20 - 4
17-78086454-G-A c.1832G>A p.G611D Missense 13/20 - 3
17-78086452-CGGCCACT-C c.1833_1839del p.H612Rfs*82 Frameshift 13/20 - 2
17-78086456-C-T c.1834C>T p.H612Y Missense 13/20 - 1
17-78086457-A-C c.1835A>C p.H612P Missense 13/20 - 2
17-78086457-A-G c.1835A>G p.H612R Missense 13/20 - 1
17-78086458-C-G c.1836C>G p.H612Q Missense 13/20 - 1
17-78086459-T-G c.1837T>G p.W613G Missense 13/20 - 1
17-78086459-T-TAA c.1837_1838insAA p.W613* Nonsense 13/20 - 1
17-78086461-G-A c.1839G>A p.W613* Nonsense 13/20 - 1
17-78086461-G-C c.1839G>C p.W613C Missense 13/20 - 1
17-78086462-A-G c.1840A>G p.T614A Missense 13/20 - 2
17-78086463-C-A c.1841C>A p.T614K Missense 13/20 - 9
17-78086463-C-T c.1841C>T p.T614M Missense 13/20 - 1
17-78086465-G-A c.1843G>A p.G615R Missense 13/20 - 15
17-78086465-GG-CA c.1843_1844delinsCA p.G615Q Missense 13/20 - 1
17-78086463-CGGG-C c.1844_1846del p.G615del InFrameDeletion 13/20 - 1
17-78086466-G-A c.1844G>A p.G615E Missense 13/20 - 4
17-78086466-G-T c.1844G>T p.G615V Missense 13/20 - 1
17-78086467-G-A c.1845G>A p.G615= Synonymous 13/20 - 1
17-78086468-G-A c.1846G>A p.D616N Missense 13/20 - 1
17-78086468-GAC-AAG c.1846_1848delinsAAG p.D616K Missense 13/20 - 1
17-78086468-G-T c.1846G>T p.D616Y Missense 13/20 - 3
17-78086468-G-GA c.1847dup p.D616Efs*20 Frameshift 13/20 - 1
17-78086469-A-AT c.1847_1848insT p.V617Rfs*19 Frameshift 13/20 - 1
17-78086469-A-C c.1847A>C p.D616A Missense 13/20 - 1
17-78086471-GTG-TTT c.1849_1851delinsTTT p.V617F Missense 13/20 - 1
17-78086478-G-A c.1856G>A p.S619N Missense 13/20 - 7
17-78086477-A-C c.1855A>C p.S619R Missense 13/20 - 1
17-78086479-C-A c.1857C>A p.S619R Missense 13/20 - 1
17-78086479-C-G c.1857C>G p.S619R Missense 13/20 - 10
17-78086481-C-A c.1859C>A p.S620Y Missense 13/20 - 1
17-78086483-T-G c.1861T>G p.W621G Missense 13/20 - 1
17-78086495-GCCT-G c.1879_1881del p.S627del InFrameDeletion 13/20 - 3
17-78086502-C-T c.1880C>T p.S627F Missense 13/20 - 11
17-78086505-GT-G c.1883del p.V628Gfs*68 Frameshift 13/20 - 1
17-78086511-G-A c.1888+1G>A - IntronicSNV - 13/19 2
17-78086510-GGTGAGCTCCTACCA-G c.1888+2_1888+15del - IntronicDeletion - 13/19 1
17-78086515-G-T c.1888+5G>T - IntronicSNV - 13/19 1
17-78086531-G-A c.1888+21G>A - IntronicSNV - 13/19 2
17-78086675-A-G c.1889A>G p.E630G Missense 14/20 - 1
17-78086681-T-C c.1895T>C p.L632P Missense 14/20 - 2
17-78086681-T-G c.1895T>G p.L632R Missense 14/20 - 2
17-78086684-A-G c.1898A>G p.Q633R Missense 14/20 - 1
17-78086689-A-G c.1903A>G p.N635D Missense 14/20 - 3
17-78086691-C-A c.1905C>A p.N635K Missense 14/20 - 3
17-78086692-CT-GC c.1906_1907delinsGC p.L636A Missense 14/20 - 1
17-78086695-C-A c.1909C>A p.L637M Missense 14/20 - 2
17-78086692-CTGCTGGGGG-C c.1910_1918del p.L637_V639del InFrameDeletion 14/20 - 3
17-78086698-G-T c.1912G>T p.G638W Missense 14/20 - 9
17-78086699-G-A c.1913G>A p.G638E Missense 14/20 - 2
17-78086699-G-T c.1913G>T p.G638V Missense 14/20 - 1
17-78086701-G-A c.1915G>A p.V639M Missense 14/20 - 1
17-78086706-T-G c.1920T>G p.P640= Synonymous 14/20 - 1
17-78086710-G-T c.1924G>T p.V642F Missense 14/20 - 1
17-78086711-T-A c.1925T>A p.V642D Missense 14/20 - 3
17-78086713-G-A c.1927G>A p.G643R Missense 14/20 - 16
17-78086713-G-C c.1927G>C p.G643R Missense 14/20 - 1
17-78086713-G-T c.1927G>T p.G643W Missense 14/20 - 1
17-78086715-GGCC-G c.1931_1933del p.A644del InFrameDeletion 14/20 - 1
17-78086719-G-A c.1933G>A p.D645N Missense 14/20 - 28
17-78086719-G-C c.1933G>C p.D645H Missense 14/20 - 3
17-78086719-G-T c.1933G>T p.D645Y Missense 14/20 - 5
17-78086721-C-A c.1935C>A p.D645E Missense 14/20 - 59
17-78086721-C-G c.1935C>G p.D645E Missense 14/20 - 5
17-78086721-C-T c.1935C>T p.D645= Synonymous 14/20 - 1
17-78086724-C-A c.1938C>A p.V646= Synonymous 14/20 - 1
17-78086724-C-CGAA c.1938_1939insGAA p.V646_C647insE InFrameInsertion 14/20 - 1
17-78086727-C-G c.1941C>G p.C647W Missense 14/20 - 5
17-78086728-G-A c.1942G>A p.G648S Missense 14/20 - 17
17-78086728-GGCTTCCT-G c.1944_1950del p.F649Afs*45 Frameshift 14/20 - 1
17-78086735-T-TG c.1952dup p.N652Qfs*85 Frameshift 14/20 - 1
17-78086744-C-A c.1958C>A p.T653N Missense 14/20 - 3
17-78086747-C-G c.1961C>G p.S654* Nonsense 14/20 - 2
17-78086748-CAGA-C c.1962_1964del p.E656del InFrameDeletion 14/20 - 1
17-78086752-G-T c.1966G>T p.E656* Nonsense 14/20 - 1
17-78086758-TG-AC c.1972_1973delinsAC p.C658T Missense 14/20 - 1
17-78086764-C-T c.1978C>T p.R660C Missense 14/20 - 5
17-78086765-G-A c.1979G>A p.R660H Missense 14/20 - 15
17-78086771-C-T c.1985C>T p.T662I Missense 14/20 - 1
17-78086770-AC-A c.1987del p.Q663Sfs*33 Frameshift 14/20 - 3
17-78086776-CT-GC c.1990_1991delinsGC p.L664A Missense 14/20 - 1
17-78086779-G-A c.1993G>A p.G665R Missense 14/20 - 1
17-78086789-A-G c.2003A>G p.Y668C Missense 14/20 - 5
17-78086790-C-A c.2004C>A p.Y668* Nonsense 14/20 - 3
17-78086793-C-A c.2007C>A p.P669= Synonymous 14/20 - 1
17-78086793-C-G c.2007C>G p.P669= Synonymous 14/20 - 1
17-78086793-C-T c.2007C>T p.P669= Synonymous 14/20 - 1
17-78086798-T-G c.2012T>G p.M671R Missense 14/20 - 4
17-78086800-C-T c.2014C>T p.R672W Missense 14/20 - 8
17-78086801-G-A c.2015G>A p.R672Q Missense 14/20 - 8
17-78086801-G-T c.2015G>T p.R672L Missense 14/20 - 1
17-78086806-C-G c.2020C>G p.H674D Missense 14/20 - 2
17-78086806-C-T c.2020C>T p.H674Y Missense 14/20 - 2
17-78086806-CACA-C c.2024_2026del p.N675del InFrameDeletion 14/20 - 7
17-78086810-A-G c.2024A>G p.N675S Missense 14/20 - 1
17-78086826-G-A c.2040G>A p.L680= Synonymous 14/20 - 2
17-78086827-G-T c.2040+1G>T - IntronicSNV - 14/19 2
17-78086827-G-GT c.2040+2dup - IntronicInsertion - 14/19 1
17-78086846-A-G c.2040+20A>G - IntronicSNV - 14/19 3
17-78086892-C-T c.2040+66C>T - IntronicSNV - 14/19 1
17-78086895-A-G c.2040+69A>G - IntronicSNV - 14/19 1
17-78086953-G-A c.2041-64G>A - IntronicSNV - 14/19 1
17-78086953-G-C c.2041-64G>C - IntronicSNV - 14/19 1
17-78087017-C-G c.2041C>G p.P681A Missense 15/20 - 1
17-78087018-C-A c.2042C>A p.P681H Missense 15/20 - 15
17-78087018-C-G c.2042C>G p.P681R Missense 15/20 - 11
17-78087019-C-A c.2043C>A p.P681= Synonymous 15/20 - 1
17-78087019-C-G c.2043C>G p.P681= Synonymous 15/20 - 1
17-78087019-C-T c.2043C>T p.P681= Synonymous 15/20 - 1
17-78087027-C-A c.2051C>A p.P684Q Missense 15/20 - 2
17-78087027-C-G c.2051C>G p.P684R Missense 15/20 - 3
17-78087027-C-T c.2051C>T p.P684L Missense 15/20 - 4
17-78087028-G-GA c.2052_2053insA p.Y685Ifs*52 Frameshift 15/20 - 1
17-78087031-C-G c.2055C>G p.Y685* Nonsense 15/20 - 3
17-78087032-AG-CC c.2056_2057delinsCC p.S686P Missense 15/20 - 1
17-78087032-CAG-C c.2056_2057del p.S686Lfs*50 Frameshift 15/20 - 1
17-78087041-G-A c.2065G>A p.E689K Missense 15/20 - 47
17-78087041-GA-AG c.2065_2066delinsAG p.E689R Missense 15/20 - 1
17-78087041-G-C c.2065G>C p.E689Q Missense 15/20 - 1
17-78087045-C-T c.2069C>T p.P690L Missense 15/20 - 2
17-78087046-G-A c.2070G>A p.P690= Synonymous 15/20 - 1
17-78087047-G-GAA c.2071_2072insAA p.A691Efs*6 Frameshift 15/20 - 1
17-78087050-C-T c.2074C>T p.Q692* Nonsense 15/20 - 2
17-78087053-C-CA c.2078dup p.A694Gfs*43 Frameshift 15/20 - 4
17-78087054-A-AG c.2080dup p.A694Gfs*43 Frameshift 15/20 - 1
17-78087059-A-AT c.2084dup p.M695Ifs*42 Frameshift 15/20 - 1
17-78087072-T-C c.2096T>C p.L699P Missense 15/20 - 2
17-78087078-T-A c.2102T>A p.L701Q Missense 15/20 - 1
17-78087078-T-C c.2102T>C p.L701P Missense 15/20 - 1
17-78087080-C-T c.2104C>T p.R702C Missense 15/20 - 9
17-78087081-G-A c.2105G>A p.R702H Missense 15/20 - 5
17-78087081-G-C c.2105G>C p.R702P Missense 15/20 - 1
17-78087081-G-T c.2105G>T p.R702L Missense 15/20 - 6
17-78087085-AC-A c.2109del p.Y703* Frameshift 15/20 - 2
17-78087086-G-A c.2110G>A p.A704T Missense 15/20 - 1
17-78087090-T-C c.2114T>C p.L705P Missense 15/20 - 1
17-78087107-A-C c.2131A>C p.T711P Missense 15/20 - 1
17-78087107-A-G c.2131A>G p.T711A Missense 15/20 - 1
17-78087108-CA-GG c.2132_2133delinsGG p.T711R Missense 15/20 - 1
17-78087108-C-G c.2132C>G p.T711R Missense 15/20 - 4
17-78087109-A-C c.2133A>C p.T711= Synonymous 15/20 - 1
17-78087109-A-G c.2133A>G p.T711= Synonymous 15/20 - 5
17-78087109-A-T c.2133A>T p.T711= Synonymous 15/20 - 2
17-78087111-T-C c.2135T>C p.L712P Missense 15/20 - 1
17-78087114-TC-T c.2140del p.H714Tfs*50 Frameshift 15/20 - 2
17-78087122-G-C c.2146G>C p.A716P Missense 15/20 - 2
17-78087130-C-A c.2154C>A p.V718= Synonymous 15/20 - 1
17-78087130-C-G c.2154C>G p.V718= Synonymous 15/20 - 1
17-78087130-C-T c.2154C>T p.V718= Synonymous 15/20 - 1
17-78087130-TC-T c.2154del p.A719Rfs*45 Frameshift 15/20 - 1
17-78087131-G-A c.2155G>A p.A719T Missense 15/20 - 1
17-78087132-C-G c.2156C>G p.A719G Missense 15/20 - 1
17-78087133-G-A c.2157G>A p.A719= Synonymous 15/20 - 1
17-78087137-GA-AG c.2161_2162delinsAG p.E721R Missense 15/20 - 1
17-78087137-G-C c.2161G>C p.E721Q Missense 15/20 - 1
17-78087137-G-T c.2161G>T p.E721* Nonsense 15/20 - 2
17-78087143-G-A c.2167G>A p.V723M Missense 15/20 - 3
17-78087143-GTGGCCCGGCCCC-TGCGACGTGG c.2167_2179delinsTGCGACGTGG p.V723_L727delinsCDVV MultiAAMissense 15/20 - 1
17-78087144-GT-G c.2168del p.V723Gfs*41 Frameshift 15/20 - 1
17-78087144-T-TG c.2170dup p.A724Gfs*13 Frameshift 15/20 - 1
17-78087147-C-A c.2171C>A p.A724D Missense 15/20 - 2
17-78087148-C-CAA c.2172_2173insAA p.R725Nfs*40 Frameshift 15/20 - 1
17-78087146-GC-G c.2173del p.R725Gfs*39 Frameshift 15/20 - 1
17-78087149-C-T c.2173C>T p.R725W Missense 15/20 - 12
17-78087150-G-A c.2174G>A p.R725Q Missense 15/20 - 5
17-78087151-G-T c.2175G>T p.R725= Synonymous 15/20 - 1
17-78087152-CC-GG c.2176_2177inv p.P726G Missense 15/20 - 1
17-78087153-C-G c.2177C>G p.P726R Missense 15/20 - 1
17-78087158-CTT-C c.2182_2183del p.F728Pfs*8 Frameshift 15/20 - 1
17-78087164-G-T c.2188G>T p.E730* Nonsense 15/20 - 3
17-78087166-G-A c.2189+1G>A - IntronicSNV - 15/19 2
17-78087168-G-C c.2189+3G>C - IntronicSNV - 15/19 1
17-78087260-C-T c.2189+95C>T - IntronicSNV - 15/19 1
17-78087428-G-A c.2189+263G>A - IntronicSNV - 15/19 2
17-78087675-T-G c.2189+510T>G - IntronicSNV - 15/19 1
17-78087772-G-A c.2189+607G>A - IntronicSNV - 15/19 1
17-78087781-T-C c.2189+616T>C - IntronicSNV - 15/19 1
17-78087888-G-A c.2189+723G>A - IntronicSNV - 15/19 1
17-78087894-A-G c.2189+729A>G - IntronicSNV - 15/19 1
17-78088024-A-G c.2189+859A>G - IntronicSNV - 15/19 1
17-78088049-G-A c.2189+884G>A - IntronicSNV - 15/19 1
17-78088318-A-G c.2189+1153A>G - IntronicSNV - 15/19 1
17-78088366-C-A c.2189+1201C>A - IntronicSNV - 15/19 1
17-78088373-A-G c.2189+1208A>G - IntronicSNV - 15/19 1
17-78088428-A-G c.2189+1263A>G - IntronicSNV - 15/19 1
17-78088455-A-G c.2189+1290A>G - IntronicSNV - 15/19 1
17-78088765-C-T c.2189+1600C>T - IntronicSNV - 15/19 1
17-78089236-G-A c.2190-1531G>A - IntronicSNV - 15/19 1
17-78089304-G-A c.2190-1463G>A - IntronicSNV - 15/19 1
17-78089628-A-G c.2190-1139A>G - IntronicSNV - 15/19 1
17-78089762-A-G c.2190-1005A>G - IntronicSNV - 15/19 1
17-78090081-G-A c.2190-686G>A - IntronicSNV - 15/19 4
17-78090120-G-A c.2190-647G>A - IntronicSNV - 15/19 1
17-78090231-G-A c.2190-536G>A - IntronicSNV - 15/19 1
17-78090277-G-A c.2190-490G>A - IntronicSNV - 15/19 1
17-78090323-A-G c.2190-444A>G - IntronicSNV - 15/19 1
17-78090431-C-T c.2190-336C>T - IntronicSNV - 15/19 1
17-78090781-C-CT c.2205dup p.S736* Nonsense 16/20 - 3
17-78090784-G-A c.2207G>A p.S736N Missense 16/20 - 1
17-78090787-C-A c.2210C>A p.T737N Missense 16/20 - 2
17-78090790-G-A c.2213G>A p.W738* Nonsense 16/20 - 2
17-78090791-G-A c.2214G>A p.W738* Nonsense 16/20 - 3
17-78090793-CTG-C c.2219_2220del p.V740Gfs*55 Frameshift 16/20 - 7
17-78090798-G-A c.2221G>A p.D741N Missense 16/20 - 4
17-78090799-A-T c.2222A>T p.D741V Missense 16/20 - 1
17-78090804-C-T c.2227C>T p.Q743* Nonsense 16/20 - 5
17-78090805-A-C c.2228A>C p.Q743P Missense 16/20 - 1
17-78090805-A-G c.2228A>G p.Q743R Missense 16/20 - 1
17-78090810-C-T c.2233C>T p.L745= Synonymous 16/20 - 1
17-78090811-T-C c.2234T>C p.L745P Missense 16/20 - 3
17-78090811-T-TG c.2235dup p.W746Vfs*50 Frameshift 16/20 - 1
17-78090813-T-C c.2236T>C p.W746R Missense 16/20 - 8
17-78090813-T-G c.2236T>G p.W746G Missense 16/20 - 1
17-78090814-G-A c.2237G>A p.W746* Nonsense 16/20 - 33
17-78090814-G-C c.2237G>C p.W746S Missense 16/20 - 7
17-78090814-G-T c.2237G>T p.W746L Missense 16/20 - 5
17-78090815-G-A c.2238G>A p.W746* Nonsense 16/20 - 15
17-78090815-G-C c.2238G>C p.W746C Missense 16/20 - 36
17-78090815-G-T c.2238G>T p.W746C Missense 16/20 - 2
17-78090817-G-A c.2240G>A p.G747E Missense 16/20 - 3
17-78090813-TG-T c.2242del p.E748Rfs*16 Frameshift 16/20 - 1
17-78090813-T-TG c.2242dup p.E748Gfs*48 Frameshift 16/20 - 7
17-78090834-A-AC c.2261dup p.V755Sfs*41 Frameshift 16/20 - 4
17-78090838-C-T c.2261C>T p.P754L Missense 16/20 - 1
17-78090846-C-T c.2269C>T p.Q757* Nonsense 16/20 - 6
17-78090849-G-GC c.2274dup p.G759Rfs*37 Frameshift 16/20 - 2
17-78090852-G-A c.2275G>A p.G759R Missense 16/20 - 1
17-78090852-G-C c.2275G>C p.G759R Missense 16/20 - 1
17-78090853-G-C c.2276G>C p.G759A Missense 16/20 - 1
17-78090870-G-A c.2293G>A p.G765S Missense 16/20 - 1
17-78090871-G-A c.2294G>A p.G765D Missense 16/20 - 3
17-78090873-T-A c.2296T>A p.Y766N Missense 16/20 - 3
17-78090873-TAC-GAG c.2296_2298delinsGAG p.Y766E Missense 16/20 - 1
17-78090874-A-C c.2297A>C p.Y766S Missense 16/20 - 13
17-78090874-A-G c.2297A>G p.Y766C Missense 16/20 - 4
17-78090875-CT-C c.2300del p.F767Sfs*14 Frameshift 16/20 - 1
17-78090879-C-T c.2302C>T p.P768S Missense 16/20 - 1
17-78090880-C-T c.2303C>T p.P768L Missense 16/20 - 3
17-78090877-TC-T c.2304del p.L769Wfs*12 Frameshift 16/20 - 1
17-78090877-T-TC c.2304dup p.T771Hfs*25 Frameshift 16/20 - 1
17-78090897-G-A c.2320G>A p.D774N Missense 16/20 - 1
17-78090903-C-T c.2326C>T p.Q776* Nonsense 16/20 - 1
17-78090906-AC-GA c.2329_2330delinsGA p.T777E Missense 16/20 - 1
17-78090907-C-T c.2330C>T p.T777M Missense 16/20 - 1
17-78090909-G-A c.2331+1G>A - IntronicSNV - 16/19 2
17-78090910-T-A c.2331+2T>A - IntronicSNV - 16/19 6
17-78090910-T-C c.2331+2T>C - IntronicSNV - 16/19 1
17-78090910-T-G c.2331+2T>G - IntronicSNV - 16/19 1
17-78090912-A-G c.2331+4A>G - IntronicSNV - 16/19 1
17-78090913-G-C c.2331+5G>C - IntronicSNV - 16/19 1
17-78090928-G-A c.2331+20G>A - IntronicSNV - 16/19 2
17-78090932-T-C c.2331+24T>C - IntronicSNV - 16/19 2
17-78091008-GA-G c.2331+102del - IntronicDeletion - 16/19 2
17-78091059-C-T c.2331+151C>T - IntronicSNV - 16/19 1
17-78091201-A-C c.2332-198A>C - IntronicSNV - 16/19 2
17-78091201-A-T c.2332-198A>T - IntronicSNV - 16/19 2
17-78091400-T-A c.2333T>A p.V778E Missense 17/20 - 1
17-78091400-T-C c.2333T>C p.V778A Missense 17/20 - 2
17-78091405-G-A c.2338G>A p.V780I Missense 17/20 - 6
17-78091405-G-T c.2338G>T p.V780L Missense 17/20 - 1
17-78091428-ACCC-A c.2364_2366del p.P790del InFrameDeletion 17/20 - 1
17-78091435-ACCT-A c.2368_2370del p.P790del InFrameDeletion 17/20 - 1
17-78091439-C-T c.2372C>T p.A791V Missense 17/20 - 1
17-78091441-G-C c.2374G>C p.A792P Missense 17/20 - 1
17-78091443-T-TCA c.2377_2378insAC p.P793Hfs*14 Frameshift 17/20 - 1
17-78091443-T-TC c.2380dup p.R794Pfs*2 Frameshift 17/20 - 2
17-78091462-C-T c.2395C>T p.H799Y Missense 17/20 - 1
17-78091470-GGGGCAGT-G c.2407_2413del p.Q803* Frameshift 17/20 - 1
17-78091474-C-T c.2407C>T p.Q803* Nonsense 17/20 - 4
17-78091471-GGGCAGTGGGTGACGCTGCC-G c.2408_2426del p.Q803Pfs*39 Frameshift 17/20 - 3
17-78091478-G-A c.2411G>A p.W804* Nonsense 17/20 - 1
17-78091488-GC-G c.2423del p.P808Rfs*40 Frameshift 17/20 - 2
17-78091490-C-T c.2423C>T p.P808L Missense 17/20 - 1
17-78091492-GC-G c.2431del p.L811Wfs*37 Frameshift 17/20 - 3
17-78091492-G-GC c.2431dup p.L811Pfs*73 Frameshift 17/20 - 1
17-78091499-CT-C c.2432del p.L811Rfs*37 Frameshift 17/20 - 3
17-78091503-C-A c.2436C>A p.D812E Missense 17/20 - 1
17-78091503-C-G c.2436C>G p.D812E Missense 17/20 - 1
17-78091504-A-AC c.2439dup p.I814Hfs*70 Frameshift 17/20 - 1
17-78091513-G-A c.2446G>A p.V816I Missense 17/20 - 6
17-78091513-G-C c.2446G>C p.V816L Missense 17/20 - 1
17-78091523-G-C c.2456G>C p.R819P Missense 17/20 - 3
17-78091524-G-C c.2457G>C p.R819= Synonymous 17/20 - 1
17-78091525-G-T c.2458G>T p.A820S Missense 17/20 - 2
17-78091524-GGCT-G c.2459_2461del p.A820del InFrameDeletion 17/20 - 4
17-78091526-C-CT c.2460dup p.G821Wfs*63 Frameshift 17/20 - 2
17-78091534-A-G c.2467A>G p.I823V Missense 17/20 - 1
17-78091534-A-T c.2467A>T p.I823F Missense 17/20 - 1
17-78091541-C-G c.2474C>G p.P825R Missense 17/20 - 1
17-78091543-CT-GA c.2476_2477delinsGA p.L826E Missense 17/20 - 1
17-78091544-TGCA-T c.2479_2481del p.Q827del InFrameDeletion 17/20 - 1
17-78091547-A-G c.2480A>G p.Q827R Missense 17/20 - 2
17-78091548-G-C c.2481G>C p.Q827H Missense 17/20 - 1
17-78091548-G-T c.2481G>T p.Q827H Missense 17/20 - 1
17-78091549-G-A c.2481+1G>A - IntronicSNV - 17/19 1
17-78091550-T-C c.2481+2T>C - IntronicSNV - 17/19 2
17-78091650-GAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGA-G c.2481+102_2481+160del - SpliceAcceptorDeletion - 17/19 1
17-78091656-CGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACA-C c.2481+114_2481+172del - Unclassified - 17/19 23
17-78091860-C-T c.2482-132C>T - IntronicSNV - 17/19 1
17-78091991-GGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCT-G c.2483_2541del p.G828Dfs*36 InFrameDeletion 18/20 - 12
17-78091993-G-A c.2483G>A p.G828D Missense 18/20 - 1
17-78091994-C-A c.2484C>A p.G828= Synonymous 18/20 - 1
17-78091994-C-G c.2484C>G p.G828= Synonymous 18/20 - 1
17-78091994-C-T c.2484C>T p.G828= Synonymous 18/20 - 1
17-78092002-TCA-T c.2495_2496del p.T832Nfs*51 Frameshift 18/20 - 2
17-78092008-CCA-C c.2501_2502del p.T834Rfs*49 Frameshift 18/20 - 4
17-78092011-C-G c.2501C>G p.T834R Missense 18/20 - 1
17-78092019-C-T c.2509C>T p.R837C Missense 18/20 - 2
17-78092020-CG-C c.2510del p.R837Pfs*11 Frameshift 18/20 - 1
17-78092020-G-A c.2510G>A p.R837H Missense 18/20 - 3
17-78092022-C-T c.2512C>T p.Q838* Nonsense 18/20 - 4
17-78092025-C-T c.2515C>T p.Q839* Nonsense 18/20 - 2
17-78092026-A-G c.2516A>G p.Q839R Missense 18/20 - 1
17-78092035-C-G c.2525C>G p.A842G Missense 18/20 - 1
17-78092038-T-C c.2528T>C p.L843P Missense 18/20 - 3
17-78092031-ATGGCCCTGGCTG-A c.2530_2541del p.A844_L847del InFrameDeletion 18/20 - 2
17-78092047-C-A c.2537C>A p.A846D Missense 18/20 - 1
17-78092047-C-T c.2537C>T p.A846V Missense 18/20 - 1
17-78092052-AC-A c.2544del p.K849Rfs*38 Frameshift 18/20 - 2
17-78092062-G-A c.2552G>A p.G851E Missense 18/20 - 1
17-78092063-G-A c.2553G>A p.G851= Synonymous 18/20 - 7
17-78092063-G-C c.2553G>C p.G851= Synonymous 18/20 - 6
17-78092063-G-T c.2553G>T p.G851= Synonymous 18/20 - 3
17-78092068-CC-AG c.2558_2559delinsAG p.A853E Missense 18/20 - 1
17-78092070-C-T c.2560C>T p.R854* Nonsense 18/20 - 79
17-78092071-G-A c.2561G>A p.R854Q Missense 18/20 - 1
17-78092073-G-C c.2563G>C p.G855R Missense 18/20 - 1
17-78092087-G-A c.2577G>A p.W859* Nonsense 18/20 - 1
17-78092088-G-A c.2578G>A p.D860N Missense 18/20 - 1
17-78092089-A-C c.2579A>C p.D860A Missense 18/20 - 1
17-78092089-A-T c.2579A>T p.D860V Missense 18/20 - 1
17-78092090-C-T c.2580C>T p.D860= Synonymous 18/20 - 1
17-78092094-G-A c.2584G>A p.G862R Missense 18/20 - 2
17-78092093-TG-T c.2585del p.G862Efs*25 Frameshift 18/20 - 1
17-78092104-TG-T c.2596del p.E866Kfs*21 Frameshift 18/20 - 1
17-78092108-A-G c.2598A>G p.E866= Synonymous 18/20 - 1
17-78092110-TGCTG-A c.2600_2604delinsA p.V867Efs*19 Frameshift 18/20 - 4
17-78092112-C-A c.2602C>A p.L868M Missense 18/20 - 1
17-78092118-C-T c.2608C>T p.R870* Nonsense 18/20 - 15
17-78092125-CC-AG c.2615_2616delinsAG p.A872E Missense 18/20 - 1
17-78092129-C-G c.2619C>G p.Y873* Nonsense 18/20 - 3
17-78092131-C-T c.2621C>T p.T874I Missense 18/20 - 1
17-78092136-G-T c.2626G>T p.V876F Missense 18/20 - 1
17-78092146-T-C c.2636T>C p.L879P Missense 18/20 - 1
17-78092153-G-GT c.2643_2644insT p.N882* Nonsense 18/20 - 2
17-78092154-GAAT-G c.2644_2646del p.N883del InFrameDeletion 18/20 - 3
17-78092153-G-GA c.2645dup p.N882Kfs*2 SpliceDonorInsertion 18/20 - 2
17-78092155-ATG-A c.2646+2_2646+3del - SpliceDonorDeletion - 18/19 4
17-78092158-T-A c.2646+2T>A - IntronicSNV - 18/19 4
17-78092381-G-A c.2647-71G>A - IntronicSNV - 18/19 1
17-78092381-G-C c.2647-71G>C - IntronicSNV - 18/19 1
17-78092445-G-A c.2647-7G>A - IntronicSNV - 18/19 2
17-78092460-TCG-T c.2655_2656del p.V886Efs*2 Frameshift 19/20 - 2
17-78092467-G-T c.2662G>T p.E888* Nonsense 19/20 - 16
17-78092476-C-T c.2671C>T p.R891C Missense 19/20 - 1
17-78092480-T-A c.2675T>A p.V892E Missense 19/20 - 1
17-78092484-C-CAA c.2680_2681insAA p.S894Kfs*12 Frameshift 19/20 - 1
17-78092486-G-GT c.2682dup p.E895* Nonsense 19/20 - 1
17-78092511-AG-A c.2706del p.K903Rfs*2 Frameshift 19/20 - 1
17-78092509-CAGA-C c.2707_2709del p.K903del InFrameDeletion 19/20 - 1
17-78092521-G-A c.2716G>A p.V906I Missense 19/20 - 2
17-78092525-T-C c.2720T>C p.L907P Missense 19/20 - 2
17-78092530-G-A c.2725G>A p.V909M Missense 19/20 - 3
17-78092543-C-G c.2738C>G p.P913R Missense 19/20 - 2
17-78092543-C-T c.2738C>T p.P913L Missense 19/20 - 1
17-78092541-G-GC c.2740dup p.Q914Pfs*104 Frameshift 19/20 - 1
17-78092545-C-CCA c.2740_2741insCA p.Q914Pfs*30 Frameshift 19/20 - 1
17-78092546-CA-C c.2741del p.Q914Rfs*29 Frameshift 19/20 - 1
17-78092546-CAG-C c.2741_2742del p.Q914Pfs*103 Frameshift 19/20 - 1
17-78092546-A-AG c.2742dup p.Q915Afs*103 Frameshift 19/20 - 1
17-78092548-C-CCAGG c.2743_2744insCAGG p.Q915Pfs*104 Frameshift 19/20 - 1
17-78092549-A-C c.2744A>C p.Q915P Missense 19/20 - 3
17-78092549-A-G c.2744A>G p.Q915R Missense 19/20 - 1
17-78092558-C-T c.2753C>T p.S918F Missense 19/20 - 1
17-78092562-AC-A c.2757del p.N919Kfs*24 Frameshift 19/20 - 1
17-78092562-C-T c.2757C>T p.N919= Synonymous 19/20 - 1
17-78092575-T-C c.2770T>C p.S924P Missense 19/20 - 3
17-78092585-C-T c.2780C>T p.T927I Missense 19/20 - 3
17-78092588-A-G c.2783A>G p.Y928C Missense 19/20 - 2
17-78092590-A-G c.2785A>G p.S929G Missense 19/20 - 1
17-78092609-G-A c.2799+5G>A - IntronicSNV - 19/19 2
17-78092844-C-G c.2800-227C>G - IntronicSNV - 19/19 2
17-78092844-C-T c.2800-227C>T - IntronicSNV - 19/19 2
17-78093011-G-A c.2800-60G>A - IntronicSNV - 19/19 1
17-78093011-G-T c.2800-60G>T - IntronicSNV - 19/19 1
17-78093075-T-C c.2804T>C p.L935P Missense 20/20 - 1
17-78093077-GA-CG c.2806_2807delinsCG p.D936R Missense 20/20 - 1
17-78093082-CTG-C c.2815_2816del p.V939Lfs*78 Frameshift 20/20 - 5
17-78093090-C-A c.2819C>A p.S940* Nonsense 20/20 - 1
17-78093090-C-T c.2819C>T p.S940L Missense 20/20 - 1
17-78093103-GA-G c.2832del p.E945Sfs*78 Frameshift 20/20 - 1
17-78093108-A-G c.2837A>G p.Q946R Missense 20/20 - 1
17-78093109-G-GT c.2841dup p.L948Sfs*70 Frameshift 20/20 - 1
17-78093113-CTC-GAG c.2842_2844inv p.L948E Missense 20/20 - 1
17-78093113-C-CT c.2843dup p.V949Rfs*69 Frameshift 20/20 - 2
17-78093113-CTCG-C c.2845_2847del p.V949del InFrameDeletion 20/20 - 2
17-78093117-T-A c.2846T>A p.V949D Missense 20/20 - 1
17-78093133-G-A c.*3G>A - 3-UTRSNV 20/20 - 2
17-78093133-G-T c.*3G>T - 3-UTRSNV 20/20 - 2
17-78093221-G-A c.*91G>A - 3-UTRSNV 20/20 - 2
17-78093268-C-CG c.*139dup - 3-UTRInsertion 20/20 - 1
17-78093268-C-CGG c.*139_*140insGG - 3-UTRInsertion 20/20 - 1
17-78093353-C-G c.*223C>G - 3-UTRSNV 20/20 - 4
17-78093353-C-T c.*223C>T - 3-UTRSNV 20/20 - 4
17-78093549-G-T c.*419G>T - 3-UTRSNV 20/20 - 2