GAA glucosidase alpha, acid

Canonical transcript: NM_000152

720 unique variant annotations were identified in 379 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
17-78076592-A-C c.-33+903A>C - intron_variant - 1/19 1
17-78077714-C-T c.-32-640C>T - IntronicSNV - 1/19 1
17-78077714-C-A c.-32-640C>A - IntronicSNV - 1/19 1
17-78078341-T-C c.-32-13T>C - IntronicSNV - 1/19 2
17-78078341-T-G c.-32-13T>G - IntronicSNV - 1/19 65
17-78078351-C-A c.-32-3C>A - IntronicSNV - 1/19 3
17-78078352-A-G c.-32-2A>G - IntronicSNV - 1/19 2
17-78078386-A-G c.1A>G p.Met1? Missense 2/20 - 1
17-78078387-AT-A c.2del p.Met1? CdsStartDeletion 2/20 - 1
17-78078388-G-A c.3G>A p.Met1? Missense 2/20 - 1
17-78078409-C-A c.24C>A p.Cys8* Nonsense 2/20 - 1
17-78078411-C-G c.26C>G p.Ser9Cys Missense 2/20 - 1
17-78078415-C-T c.30C>T p.His10His Synonymous 2/20 - 1
17-78078417-G-A c.32G>A p.Arg11Gln Missense 2/20 - 1
17-78078422-CT-GC c.37_38delinsGC p.Leu13Ala Missense 2/20 - 2
17-78078425-GC-TG c.40_41delinsTG p.Ala14Cys Missense 2/20 - 1
17-78078425-GGCCGTCTG-G c.40_47del p.Ala14Argfs*18 Frameshift 2/20 - 1
17-78078426-C-G c.41C>G p.Ala14Gly Missense 2/20 - 1
17-78078427-C-A c.42C>A p.Ala14Ala Synonymous 2/20 - 1
17-78078427-C-G c.42C>G p.Ala14Ala Synonymous 2/20 - 1
17-78078427-C-T c.42C>T p.Ala14Ala Synonymous 2/20 - 1
17-78078434-G-A c.49G>A p.Ala17Thr Missense 2/20 - 1
17-78078434-GCC-CAA c.49_51delinsCAA p.Ala17Gln Missense 2/20 - 1
17-78078434-GC-CT c.49_50delinsCT p.Ala17Leu Missense 2/20 - 1
17-78078437-CC-C c.52del p.Leu18Serfs*25 Frameshift 2/20 - 1
17-78078443-T-G c.58T>G p.Ser20Ala Missense 2/20 - 1
17-78078458-GCA-TGT c.73_75delinsTGT p.Ala25Cys Missense 2/20 - 1
17-78078459-C-A c.74C>A p.Ala25Glu Missense 2/20 - 1
17-78078461-C-G c.76C>G p.Leu26Val Missense 2/20 - 1
17-78078467-GGG-TGT c.82_84delinsTGT p.Gly28Cys Missense 2/20 - 2
17-78078468-GG-AC c.83_84delinsAC p.Gly28Asp Missense 2/20 - 1
17-78078468-G-C c.83G>C p.Gly28Ala Missense 2/20 - 2
17-78078470-C-G c.85C>G p.His29Asp Missense 2/20 - 1
17-78078471-A-G c.86A>G p.His29Arg Missense 2/20 - 1
17-78078473-ATC-GAG c.88_90delinsGAG p.Ile30Glu Missense 2/20 - 1
17-78078481-C-A c.96C>A p.Leu32Leu Synonymous 2/20 - 1
17-78078484-T-C c.99T>C p.His33His Synonymous 2/20 - 2
17-78078485-TG-T c.100del p.Asp34Ilefs*9 Frameshift 2/20 - 1
17-78078486-A-C c.101A>C p.Asp34Ala Missense 2/20 - 1
17-78078491-CT-GC c.106_107delinsGC p.Leu36Ala Missense 2/20 - 1
17-78078492-T-A c.107T>A p.Leu36Gln Missense 2/20 - 1
17-78078494-CT-GC c.109_110delinsGC p.Leu37Ala Missense 2/20 - 2
17-78078494-C-G c.109C>G p.Leu37Val Missense 2/20 - 1
17-78078497-GTT-ATG c.112_114delinsATG p.Val38Met Missense 2/20 - 1
17-78078503-CG-GC c.118_119delinsGC p.Arg40Ala Missense 2/20 - 2
17-78078503-C-T c.118C>T p.Arg40* Nonsense 2/20 - 4
17-78078504-G-C c.119G>C p.Arg40Pro Missense 2/20 - 1
17-78078515-G-T c.130G>T p.Gly44Cys Missense 2/20 - 1
17-78078525-C-G c.140C>G p.Pro47Arg Missense 2/20 - 1
17-78078533-GGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCA-G c.149_207del p.Glu50Glyfs*26 SpliceDonorDeletion 2/20 - 4
17-78078539-A-G c.154A>G p.Thr52Ala Missense 2/20 - 1
17-78078542-TC-T c.157del p.His53Thrfs*89 Frameshift 2/20 - 1
17-78078548-GC-TG c.163_164delinsTG p.Ala55Cys Missense 2/20 - 1
17-78078554-C-T c.169C>T p.Gln57* Nonsense 2/20 - 1
17-78078558-A-T c.173A>T p.Gln58Leu Missense 2/20 - 1
17-78078569-AG-GC c.184_185delinsGC p.Arg62Ala Missense 2/20 - 1
17-78078571-A-AA c.186dup p.Pro63Thrfs*33 Frameshift 2/20 - 1
17-78078581-CGG-AGC c.196_198delinsAGC p.Arg66Ser Missense 2/20 - 1
17-78078584-G-A c.199G>A p.Asp67Asn Missense 2/20 - 5
17-78078585-A-G c.200A>G p.Asp67Gly Missense 2/20 - 1
17-78078591-A-T c.206A>T p.Gln69Leu Missense 2/20 - 1
17-78078594-CA-AC c.209_210delinsAC p.Ala70Asp Missense 2/20 - 2
17-78078597-A-T c.212A>T p.His71Leu Missense 2/20 - 1
17-78078602-G-T c.217G>T p.Gly73Cys Missense 2/20 - 1
17-78078614-G-A c.229G>A p.Ala77Thr Missense 2/20 - 2
17-78078615-CA-AC c.230_231delinsAC p.Ala77Asp Missense 2/20 - 2
17-78078616-A-G c.231A>G p.Ala77Ala Synonymous 2/20 - 1
17-78078616-A-C c.231A>C p.Ala77Ala Synonymous 2/20 - 1
17-78078616-A-T c.231A>T p.Ala77Ala Synonymous 2/20 - 1
17-78078621-CCCACACAGTGC-C c.236_246del p.Pro79Argfs*13 Frameshift 2/20 - 3
17-78078623-A-G c.238A>G p.Thr80Ala Missense 2/20 - 1
17-78078626-C-T c.241C>T p.Gln81* Nonsense 2/20 - 1
17-78078629-T-C c.244T>C p.Cys82Arg Missense 2/20 - 1
17-78078631-C-T c.246C>T p.Cys82Cys Synonymous 2/20 - 2
17-78078632-G-C c.247G>C p.Asp83His Missense 2/20 - 1
17-78078642-C-G c.257C>G p.Pro86Arg Missense 2/20 - 1
17-78078643-C-CC c.258dup p.Asn87Glnfs*9 Frameshift 2/20 - 6
17-78078651-G-A c.266G>A p.Arg89His Missense 2/20 - 3
17-78078656-GA-CG c.271_272delinsCG p.Asp91Arg Missense 2/20 - 1
17-78078656-G-A c.271G>A p.Asp91Asn Missense 2/20 - 7
17-78078663-C-G c.278C>G p.Ala93Gly Missense 2/20 - 1
17-78078666-CT-AA c.281_282delinsAA p.Pro94Gln Missense 2/20 - 1
17-78078671-A-G c.286A>G p.Lys96Glu Missense 2/20 - 1
17-78078676-C-A c.291C>A p.Ala97Ala Synonymous 2/20 - 1
17-78078676-C-G c.291C>G p.Ala97Ala Synonymous 2/20 - 1
17-78078676-C-T c.291C>T p.Ala97Ala Synonymous 2/20 - 1
17-78078681-C-T c.296C>T p.Thr99Ile Missense 2/20 - 1
17-78078687-A-C c.302A>C p.Glu101Ala Missense 2/20 - 1
17-78078692-T-C c.307T>C p.Cys103Arg Missense 2/20 - 2
17-78078692-T-G c.307T>G p.Cys103Gly Missense 2/20 - 7
17-78078692-TG-AC c.307_308delinsAC p.Cys103Thr Missense 2/20 - 1
17-78078692-TG-GC c.307_308delinsGC p.Cys103Ala Missense 2/20 - 1
17-78078694-C-G c.309C>G p.Cys103Trp Missense 2/20 - 1
17-78078708-G-A c.323G>A p.Cys108Tyr Missense 2/20 - 1
17-78078708-G-C c.323G>C p.Cys108Ser Missense 2/20 - 1
17-78078709-T-C c.324T>C p.Cys108Cys Synonymous 2/20 - 2
17-78078714-A-G c.329A>G p.Tyr110Cys Missense 2/20 - 2
17-78078725-A-AT c.340_341insT p.Lys114Ilefs*32 Frameshift 2/20 - 2
17-78078726-A-AT c.341_342insT p.Lys114Asnfs*32 Frameshift 2/20 - 1
17-78078731-G-A c.346G>A p.Gly116Arg Missense 2/20 - 1
17-78078737-C-T c.352C>T p.Gln118* Nonsense 2/20 - 1
17-78078740-GGA-AGC c.355_357delinsAGC p.Gly119Ser Missense 2/20 - 2
17-78078755-CA-GC c.370_371delinsGC p.Gln124Ala Missense 2/20 - 1
17-78078758-C-G c.373C>G p.Pro125Ala Missense 2/20 - 1
17-78078763-G-A c.378G>A p.Trp126* Nonsense 2/20 - 2
17-78078764-GTG-G c.379_380del p.Cys127Leufs*18 Frameshift 2/20 - 1
17-78078765-G-T c.380G>T p.Cys127Phe Missense 2/20 - 1
17-78078788-AG-GC c.403_404delinsGC p.Ser135Ala Missense 2/20 - 2
17-78078791-TA-GC c.406_407delinsGC p.Tyr136Ala Missense 2/20 - 1
17-78078805-C-A c.420C>A p.Asn140Lys Missense 2/20 - 1
17-78078814-CCTC-C c.429_431del p.Ser144del InFrameDeletion 2/20 - 1
17-78078821-A-G c.436A>G p.Met146Val Missense 2/20 - 1
17-78078822-AT-A c.437del p.Met146Argfs*7 Frameshift 2/20 - 5
17-78078824-G-T c.439G>T p.Gly147Cys Missense 2/20 - 1
17-78078829-C-G c.444C>G p.Tyr148* Nonsense 2/20 - 1
17-78078830-A-C c.445A>C p.Thr149Pro Missense 2/20 - 1
17-78078845-CCGTACC-C c.460_465del p.Arg154_Thr155del InFrameDeletion 2/20 - 1
17-78078848-A-G c.463A>G p.Thr155Ala Missense 2/20 - 2
17-78078851-A-C c.466A>C p.Thr156Pro Missense 2/20 - 1
17-78078852-C-T c.467C>T p.Thr156Ile Missense 2/20 - 1
17-78078856-C-G c.471C>G p.Pro157Pro Synonymous 2/20 - 1
17-78078856-C-T c.471C>T p.Pro157Pro Synonymous 2/20 - 1
17-78078857-A-G c.472A>G p.Thr158Ala Missense 2/20 - 1
17-78078858-CC-TG c.473_474delinsTG p.Thr158Met Missense 2/20 - 1
17-78078863-TT-GC c.478_479delinsGC p.Phe160Ala Missense 2/20 - 1
17-78078864-T-C c.479T>C p.Phe160Ser Missense 2/20 - 1
17-78078867-CCC-C c.482_483del p.Pro161Glnfs*15 Frameshift 2/20 - 1
17-78078868-C-CC c.483dup p.Lys162Glnfs*15 Frameshift 2/20 - 3
17-78078869-A-C c.484A>C p.Lys162Gln Missense 2/20 - 1
17-78078870-A-G c.485A>G p.Lys162Arg Missense 2/20 - 1
17-78078878-C-T c.493C>T p.Leu165Leu Synonymous 2/20 - 1
17-78078882-C-T c.497C>T p.Thr166Ile Missense 2/20 - 1
17-78078884-C-T c.499C>T p.Leu167Leu Synonymous 2/20 - 1
17-78078887-CG-TA c.502_503delinsTA p.Arg168* Nonsense 2/20 - 1
17-78078888-G-A c.503G>A p.Arg168Gln Missense 2/20 - 1
17-78078888-G-C c.503G>C p.Arg168Pro Missense 2/20 - 2
17-78078890-CTG-TTT c.505_507delinsTTT p.Leu169Phe Missense 2/20 - 1
17-78078891-T-C c.506T>C p.Leu169Pro Missense 2/20 - 1
17-78078895-C-T c.510C>T p.Asp170Asp Synonymous 2/20 - 3
17-78078899-A-T c.514A>T p.Met172Leu Missense 2/20 - 1
17-78078899-A-C c.514A>C p.Met172Leu Missense 2/20 - 1
17-78078899-A-G c.514A>G p.Met172Val Missense 2/20 - 1
17-78078902-GATG-G c.517_519del p.Met173del InFrameDeletion 2/20 - 1
17-78078910-CT-C c.525del p.Glu176Argfs*45 Frameshift 2/20 - 43
17-78078910-CTG-C c.525_526del p.Asn177Profs*11 Frameshift 2/20 - 3
17-78078915-AC-GG c.530_531delinsGG p.Asn177Arg Missense 2/20 - 1
17-78078917-CG-GC c.532_533delinsGC p.Arg178Ala Missense 2/20 - 1
17-78078917-CG-GA c.532_533delinsGA p.Arg178Asp Missense 2/20 - 1
17-78078918-G-A c.533G>A p.Arg178His Missense 2/20 - 1
17-78078929-A-T c.544A>T p.Thr182Ser Missense 2/20 - 1
17-78078929-ACG-TTT c.544_546delinsTTT p.Thr182Phe Missense 2/20 - 1
17-78078930-C-G c.545C>G p.Thr182Arg Missense 2/20 - 1
17-78078931-G-T c.546G>T p.Thr182Thr Synonymous 2/20 - 9
17-78078931-G-C c.546G>C p.Thr182Thr Synonymous 2/20 - 3
17-78078931-G-A c.546G>A p.Thr182Thr Synonymous 2/20 - 4
17-78078932-G-T c.546+1G>T - IntronicSNV - 2/19 2
17-78078933-T-C c.546+2T>C - IntronicSNV - 2/19 3
17-78078933-GTGGG-G c.546+2_546+5del - IntronicDeletion - 2/19 1
17-78079544-C-G c.547-4C>G - IntronicSNV - 2/19 1
17-78079551-AA-GC c.550_551delinsGC p.Lys184Ala Missense 3/20 - 1
17-78079560-G-C c.559G>C p.Ala187Pro Missense 3/20 - 1
17-78079561-C-G c.560C>G p.Ala187Gly Missense 3/20 - 1
17-78079564-A-G c.563A>G p.Asn188Ser Missense 3/20 - 3
17-78079569-CG-GC c.568_569delinsGC p.Arg190Ala Missense 3/20 - 2
17-78079569-C-T c.568C>T p.Arg190Cys Missense 3/20 - 2
17-78079570-G-A c.569G>A p.Arg190His Missense 3/20 - 2
17-78079571-GCT-G c.570_571del p.Tyr191Argfs*138 Frameshift 3/20 - 1
17-78079574-C-A c.573C>A p.Tyr191* Nonsense 3/20 - 2
17-78079575-GAG-CAT c.574_576delinsCAT p.Glu192His Missense 3/20 - 1
17-78079575-G-A c.574G>A p.Glu192Lys Missense 3/20 - 1
17-78079584-TT-AG c.583_584delinsAG p.Leu195Arg Missense 3/20 - 1
17-78079591-C-A c.590C>A p.Thr197Asn Missense 3/20 - 1
17-78079593-CC-GA c.592_593delinsGA p.Pro198Glu Missense 3/20 - 1
17-78079594-C-T c.593C>T p.Pro198Leu Missense 3/20 - 2
17-78079597-A-G c.596A>G p.His199Arg Missense 3/20 - 5
17-78079605-AGC-TGA c.604_606delinsTGA p.Ser202* Nonsense 3/20 - 1
17-78079611-G-A c.610G>A p.Ala204Thr Missense 3/20 - 1
17-78079614-C-T c.613C>T p.Pro205Ser Missense 3/20 - 1
17-78079643-C-A c.642C>A p.Ser214Ser Synonymous 3/20 - 2
17-78079643-C-T c.642C>T p.Ser214Ser Synonymous 3/20 - 2
17-78079647-G-A c.646G>A p.Glu216Lys Missense 3/20 - 2
17-78079656-G-A c.655G>A p.Gly219Arg Missense 3/20 - 15
17-78079665-G-A c.664G>A p.Val222Met Missense 3/20 - 2
17-78079666-T-G c.665T>G p.Val222Gly Missense 3/20 - 1
17-78079669-G-A c.668G>A p.Arg223His Missense 3/20 - 3
17-78079671-C-T c.670C>T p.Arg224Trp Missense 3/20 - 6
17-78079672-G-A c.671G>A p.Arg224Gln Missense 3/20 - 1
17-78079677-C-G c.676C>G p.Leu226Val Missense 3/20 - 1
17-78079684-G-C c.683G>C p.Gly228Ala Missense 3/20 - 1
17-78079686-C-CCGGC c.685_686insCGGC p.Arg229Profs*102 Frameshift 3/20 - 2
17-78079689-G-GGCCG c.688_689insGCCG p.Val230Glyfs*101 Frameshift 3/20 - 1
17-78079691-G-T c.690G>T p.Val230Val Synonymous 3/20 - 1
17-78079691-G-A c.690G>A p.Val230Val Synonymous 3/20 - 1
17-78079691-G-C c.690G>C p.Val230Val Synonymous 3/20 - 1
17-78079694-G-C c.692+1G>C - IntronicSNV - 3/19 3
17-78079698-G-T c.692+5G>T - IntronicSNV - 3/19 1
17-78081352-G-T c.693-4G>T - IntronicSNV - 3/19 1
17-78081364-CG-TC c.701_702delinsTC p.Thr234Ile Missense 4/20 - 1
17-78081364-C-A c.701C>A p.Thr234Lys Missense 4/20 - 1
17-78081373-C-T c.710C>T p.Ala237Val Missense 4/20 - 1
17-78081385-TTT-T c.722_723del p.Phe241Cysfs*88 Frameshift 4/20 - 5
17-78081385-T-A c.722T>A p.Phe241Tyr Missense 4/20 - 1
17-78081385-T-G c.722T>G p.Phe241Cys Missense 4/20 - 1
17-78081390-G-A c.727G>A p.Asp243Asn Missense 4/20 - 1
17-78081393-C-T c.730C>T p.Gln244* Nonsense 4/20 - 1
17-78081399-CC-C c.736del p.Leu246Phefs*22 Frameshift 4/20 - 1
17-78081412-C-T c.749C>T p.Thr250Ile Missense 4/20 - 1
17-78081415-C-T c.752C>T p.Ser251Leu Missense 4/20 - 5
17-78081419-G-GT c.756_757insT p.Pro253Serfs*77 Frameshift 4/20 - 1
17-78081424-C-T c.761C>T p.Ser254Leu Missense 4/20 - 5
17-78081426-C-T c.763C>T p.Gln255* Nonsense 4/20 - 2
17-78081427-A-C c.764A>C p.Gln255Pro Missense 4/20 - 1
17-78081429-GTATATCACAGGCCTCGCCGA-G c.766_785del p.Tyr256Alafs*67 Frameshift 4/20 - 1
17-78081444-G-A c.781G>A p.Ala261Thr Missense 4/20 - 2
17-78081447-G-A c.784G>A p.Glu262Lys Missense 4/20 - 6
17-78081457-AG-A c.794del p.Ser265Ilefs*3 Frameshift 4/20 - 1
17-78081459-C-T c.796C>T p.Pro266Ser Missense 4/20 - 11
17-78081459-C-A c.796C>A p.Pro266Thr Missense 4/20 - 1
17-78081460-C-T c.797C>T p.Pro266Leu Missense 4/20 - 2
17-78081472-G-T c.809G>T p.Ser270Ile Missense 4/20 - 1
17-78081476-CC-C c.813del p.Ser272Alafs*42 Frameshift 4/20 - 1
17-78081481-G-T c.818G>T p.Trp273Leu Missense 4/20 - 1
17-78081481-G-C c.818G>C p.Trp273Ser Missense 4/20 - 1
17-78081486-AG-CA c.823_824delinsCA p.Arg275Gln Missense 4/20 - 1
17-78081495-C-A c.832C>A p.Leu278Met Missense 4/20 - 1
17-78081495-CC-C c.832del p.Leu278Cysfs*36 Frameshift 4/20 - 1
17-78081499-G-A c.836G>A p.Trp279* Nonsense 4/20 - 1
17-78081501-A-G c.838A>G p.Asn280Asp Missense 4/20 - 1
17-78081504-C-T c.841C>T p.Arg281Trp Missense 4/20 - 1
17-78081504-CG-AA c.841_842delinsAA p.Arg281Lys Missense 4/20 - 1
17-78081504-CG-GC c.841_842delinsGC p.Arg281Ala Missense 4/20 - 1
17-78081516-C-T c.853C>T p.Pro285Ser Missense 4/20 - 2
17-78081517-C-T c.854C>T p.Pro285Leu Missense 4/20 - 1
17-78081517-C-G c.854C>G p.Pro285Arg Missense 4/20 - 1
17-78081518-C-G c.855C>G p.Pro285Pro Synonymous 4/20 - 1
17-78081519-ACG-GAC c.856_858delinsGAC p.Thr286Asp Missense 4/20 - 1
17-78081519-AC-GA c.856_857delinsGA p.Thr286Glu Missense 4/20 - 1
17-78081519-AC-GT c.856_857inv p.Thr286Val Missense 4/20 - 1
17-78081519-A-T c.856A>T p.Thr286Ser Missense 4/20 - 1
17-78081519-A-G c.856A>G p.Thr286Ala Missense 4/20 - 3
17-78081520-C-A c.857C>A p.Thr286Lys Missense 4/20 - 1
17-78081523-T-A c.858+2T>A - IntronicSNV - 4/19 1
17-78081541-GGCGGGGG-G c.858+20_858+26del - IntronicDeletion - 4/19 1
17-78081551-T-C c.858+30T>C - IntronicSNV - 4/19 1
17-78081597-A-T c.859-2A>T - IntronicSNV - 4/19 1
17-78081601-C-T c.861C>T p.Pro287Pro Synonymous 5/20 - 1
17-78081608-AA-GC c.868_869delinsGC p.Asn290Ala Missense 5/20 - 1
17-78081608-A-G c.868A>G p.Asn290Asp Missense 5/20 - 1
17-78081611-C-T c.871C>T p.Leu291Phe Missense 5/20 - 3
17-78081612-T-C c.872T>C p.Leu291Pro Missense 5/20 - 2
17-78081615-A-G c.875A>G p.Tyr292Cys Missense 5/20 - 6
17-78081616-C-G c.876C>G p.Tyr292* Nonsense 5/20 - 1
17-78081617-G-A c.877G>A p.Gly293Arg Missense 5/20 - 5
17-78081624-A-G c.884A>G p.His295Arg Missense 5/20 - 1
17-78081624-A-C c.884A>C p.His295Pro Missense 5/20 - 1
17-78081636-T-C c.896T>C p.Leu299Pro Missense 5/20 - 2
17-78081638-G-T c.898G>T p.Ala300Ser Missense 5/20 - 1
17-78081638-G-A c.898G>A p.Ala300Thr Missense 5/20 - 1
17-78081639-C-G c.899C>G p.Ala300Gly Missense 5/20 - 3
17-78081651-G-C c.911G>C p.Gly304Ala Missense 5/20 - 1
17-78081653-G-A c.913G>A p.Gly305Arg Missense 5/20 - 1
17-78081655-G-A c.915G>A p.Gly305Gly Synonymous 5/20 - 2
17-78081657-C-T c.917C>T p.Ser306Leu Missense 5/20 - 1
17-78081661-A-G c.921A>G p.Ala307Ala Synonymous 5/20 - 1
17-78081661-A-C c.921A>C p.Ala307Ala Synonymous 5/20 - 1
17-78081661-A-T c.921A>T p.Ala307Ala Synonymous 5/20 - 1
17-78081662-CA-AT c.922_923delinsAT p.His308Ile Missense 5/20 - 1
17-78081663-A-C c.923A>C p.His308Pro Missense 5/20 - 5
17-78081665-G-A c.925G>A p.Gly309Arg Missense 5/20 - 18
17-78081666-G-C c.926G>C p.Gly309Ala Missense 5/20 - 1
17-78081681-A-C c.941A>C p.Asn314Thr Missense 5/20 - 1
17-78081682-C-G c.942C>G p.Asn314Lys Missense 5/20 - 1
17-78081682-C-A c.942C>A p.Asn314Lys Missense 5/20 - 1
17-78081684-G-C c.944G>C p.Ser315Thr Missense 5/20 - 4
17-78081687-A-T c.947A>T p.Asn316Ile Missense 5/20 - 1
17-78081693-T-C c.953T>C p.Met318Thr Missense 5/20 - 5
17-78081697-T-G c.955+2T>G - IntronicSNV - 5/19 1
17-78081707-G-C c.955+12G>C - IntronicSNV - 5/19 1
17-78081707-G-A c.955+12G>A - IntronicSNV - 5/19 1
17-78082089-GA-G c.956del p.Asp319Valfs*73 Frameshift 6/20 - 1
17-78082095-T-C c.962T>C p.Val321Ala Missense 6/20 - 1
17-78082098-T-A c.965T>A p.Leu322Gln Missense 6/20 - 1
17-78082113-C-T c.980C>T p.Ala327Val Missense 6/20 - 1
17-78082116-T-C c.983T>C p.Leu328Pro Missense 6/20 - 2
17-78082133-G-T c.1000G>T p.Gly334Cys Missense 6/20 - 1
17-78082134-G-T c.1001G>T p.Gly334Val Missense 6/20 - 1
17-78082136-G-A c.1003G>A p.Gly335Arg Missense 6/20 - 2
17-78082151-T-C c.1018T>C p.Tyr340His Missense 6/20 - 1
17-78082152-A-G c.1019A>G p.Tyr340Cys Missense 6/20 - 1
17-78082169-G-A c.1036G>A p.Glu346Lys Missense 6/20 - 1
17-78082173-C-G c.1040C>G p.Pro347Arg Missense 6/20 - 2
17-78082180-C-T c.1047C>T p.Ser349Ser Synonymous 6/20 - 1
17-78082181-G-A c.1048G>A p.Val350Met Missense 6/20 - 1
17-78082184-GG-G c.1051del p.Val351Cysfs*41 Frameshift 6/20 - 2
17-78082190-GC-G c.1057del p.Gln353Serfs*39 Frameshift 6/20 - 1
17-78082195-C-G c.1062C>G p.Tyr354* Nonsense 6/20 - 2
17-78082196-CCTG-C c.1063_1065del p.Leu355del InFrameDeletion 6/20 - 1
17-78082197-T-C c.1064T>C p.Leu355Pro Missense 6/20 - 9
17-78082200-A-G c.1067A>G p.Asp356Gly Missense 6/20 - 1
17-78082205-GTG-GGTAGCAGGAGGTGGCCTGCA c.1073_1074delinsGTAGCAGGAGGTGGCCTGCA p.Val358delinsGlySerArgArgTrpProAla MultiAAMissense 6/20 - 1
17-78082208-G-T c.1075G>T p.Gly359* Nonsense 6/20 - 3
17-78082208-G-A c.1075G>A p.Gly359Arg Missense 6/20 - 2
17-78082266-T-G c.1076-22T>G - IntronicSNV - 6/19 2
17-78082287-G-C c.1076-1G>C - IntronicSNV - 6/19 5
17-78082294-C-G c.1082C>G p.Pro361Arg Missense 7/20 - 3
17-78082294-C-T c.1082C>T p.Pro361Leu Missense 7/20 - 12
17-78082303-C-T c.1091C>T p.Pro364Leu Missense 7/20 - 1
17-78082311-T-G c.1099T>G p.Trp367Gly Missense 7/20 - 1
17-78082311-T-C c.1099T>C p.Trp367Arg Missense 7/20 - 7
17-78082313-G-A c.1101G>A p.Trp367* Nonsense 7/20 - 1
17-78082315-G-A c.1103G>A p.Gly368Asp Missense 7/20 - 1
17-78082318-T-C c.1106T>C p.Leu369Pro Missense 7/20 - 1
17-78082327-A-T c.1115A>T p.His372Leu Missense 7/20 - 3
17-78082330-T-G c.1118T>G p.Leu373Arg Missense 7/20 - 1
17-78082336-G-T c.1124G>T p.Arg375Leu Missense 7/20 - 1
17-78082341-G-C c.1129G>C p.Gly377Arg Missense 7/20 - 2
17-78082346-C-G c.1134C>G p.Tyr378* Nonsense 7/20 - 1
17-78082354-ACCGC-A c.1142_1145del p.Thr381Ilefs*10 Frameshift 7/20 - 1
17-78082354-C-T c.1142C>T p.Thr381Ile Missense 7/20 - 1
17-78082355-CC-C c.1143del p.Ala382Leufs*10 Frameshift 7/20 - 3
17-78082363-CC-TG c.1151_1152delinsTG p.Thr384Met Missense 7/20 - 1
17-78082368-C-T c.1156C>T p.Gln386* Nonsense 7/20 - 1
17-78082369-A-AA c.1157dup p.Val387Glyfs*119 Frameshift 7/20 - 2
17-78082377-GA-CC c.1165_1166delinsCC p.Glu389Pro Missense 7/20 - 1
17-78082377-GG-G c.1165del p.Glu389Argfs*3 Frameshift 7/20 - 1
17-78082408-T-A c.1194+2T>A - IntronicSNV - 7/19 2
17-78082408-T-C c.1194+2T>C - IntronicSNV - 7/19 2
17-78082411-G-A c.1194+5G>A - IntronicSNV - 7/19 1
17-78082488-G-T c.1195-8G>T - IntronicSNV - 7/19 1
17-78082494-A-G c.1195-2A>G - IntronicSNV - 7/19 2
17-78082504-G-A c.1203G>A p.Gln401Gln Synonymous 8/20 - 3
17-78082510-AC-A c.1209del p.Asn403Lysfs*37 Frameshift 8/20 - 4
17-78082511-G-A c.1210G>A p.Asp404Asn Missense 8/20 - 6
17-78082517-G-A c.1216G>A p.Asp406Asn Missense 8/20 - 3
17-78082526-G-GG c.1225dup p.Asp409Glyfs*97 Frameshift 8/20 - 1
17-78082526-G-C c.1225G>C p.Asp409His Missense 8/20 - 2
17-78082527-A-G c.1226A>G p.Asp409Gly Missense 8/20 - 1
17-78082527-A-AA c.1226dup p.Asp409Glufs*97 Frameshift 8/20 - 1
17-78082527-A-AG c.1226_1227insG p.Asp409Glufs*97 Frameshift 8/20 - 1
17-78082544-AC-GG c.1243_1244delinsGG p.Thr415Gly Missense 8/20 - 1
17-78082550-AA-TT c.1249_1250inv p.Asn417Phe Missense 8/20 - 1
17-78082552-C-G c.1251C>G p.Asn417Lys Missense 8/20 - 1
17-78082552-C-A c.1251C>A p.Asn417Lys Missense 8/20 - 1
17-78082557-A-T c.1256A>T p.Asp419Val Missense 8/20 - 1
17-78082569-A-G c.1268A>G p.Asp423Gly Missense 8/20 - 1
17-78082578-C-T c.1277C>T p.Ala426Val Missense 8/20 - 2
17-78082592-GCTGCACCAG-G c.1291_1299del p.Leu431_Gln433del InFrameDeletion 8/20 - 1
17-78082594-TGCACCAGGGCGGCCGGCGCT-T c.1293_1312del p.Gln433Aspfs*66 Frameshift 8/20 - 2
17-78082598-C-A c.1297C>A p.Gln433Lys Missense 8/20 - 1
17-78082602-G-A c.1301G>A p.Gly434Asp Missense 8/20 - 1
17-78082607-C-T c.1306C>T p.Arg436Trp Missense 8/20 - 1
17-78082607-CG-AC c.1306_1307delinsAC p.Arg436Thr Missense 8/20 - 1
17-78082610-C-T c.1309C>T p.Arg437Cys Missense 8/20 - 5
17-78082616-A-G c.1315A>G p.Met439Val Missense 8/20 - 1
17-78082617-T-A c.1316T>A p.Met439Lys Missense 8/20 - 16
17-78082621-TGAT-T c.1320_1322del p.Met440del InFrameDeletion 8/20 - 1
17-78082623-ATCGTGGTGTGTGCC-A c.1322_1326+9del - SpliceDonorDeletion 8/20 8/19 1
17-78082625-GTG-ATC c.1324_1326delinsATC p.Val442Ile Missense 8/20 - 1
17-78082628-G-A c.1326+1G>A - IntronicSNV - 8/19 2
17-78083690-GGCTGGCGCCAGGGCTCTGGGCCACCCTCACCTTGACAGGTTTCCCTCTTCCCAGGATCC-G c.1327-54_1331del - Unclassified 9/20 8/19 1
17-78083726-A-G c.1327-18A>G - IntronicSNV - 8/19 3
17-78083742-A-G c.1327-2A>G - IntronicSNV - 8/19 5
17-78083742-A-C c.1327-2A>C - IntronicSNV - 8/19 1
17-78083745-GATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTG-G c.1328_1386del p.Asp443Alafs*43 InFrameDeletion 9/20 - 3
17-78083748-C-G c.1331C>G p.Pro444Arg Missense 9/20 - 1
17-78083750-G-C c.1333G>C p.Ala445Pro Missense 9/20 - 3
17-78083751-C-G c.1334C>G p.Ala445Gly Missense 9/20 - 1
17-78083756-AGC-TGA c.1339_1341delinsTGA p.Ser447* Nonsense 9/20 - 1
17-78083768-C-T c.1351C>T p.Pro451Ser Missense 9/20 - 1
17-78083769-C-G c.1352C>G p.Pro451Arg Missense 9/20 - 1
17-78083771-GC-TG c.1354_1355delinsTG p.Ala452Cys Missense 9/20 - 1
17-78083773-CC-C c.1356del p.Ser454Alafs*23 Frameshift 9/20 - 3
17-78083781-A-T c.1364A>T p.Tyr455Phe Missense 9/20 - 5
17-78083781-A-G c.1364A>G p.Tyr455Cys Missense 9/20 - 1
17-78083784-G-T c.1367G>T p.Arg456Met Missense 9/20 - 1
17-78083787-C-T c.1370C>T p.Pro457Leu Missense 9/20 - 1
17-78083791-C-T c.1374C>T p.Tyr458Tyr Synonymous 9/20 - 2
17-78083798-G-A c.1381G>A p.Gly461Ser Missense 9/20 - 1
17-78083802-T-C c.1385T>C p.Leu462Pro Missense 9/20 - 1
17-78083806-G-C c.1389G>C p.Arg463Arg Synonymous 9/20 - 1
17-78083806-G-A c.1389G>A p.Arg463Arg Synonymous 9/20 - 1
17-78083804-C-A c.1387C>A p.Arg463Arg Synonymous 9/20 - 1
17-78083806-G-T c.1389G>T p.Arg463Arg Synonymous 9/20 - 1
17-78083804-CGG-TGT c.1387_1389delinsTGT p.Arg463Cys Missense 9/20 - 1
17-78083809-G-C c.1392G>C p.Arg464Ser Missense 9/20 - 1
17-78083809-G-T c.1392G>T p.Arg464Ser Missense 9/20 - 1
17-78083813-GG-G c.1396del p.Val466Phefs*11 Frameshift 9/20 - 3
17-78083819-A-T c.1402A>T p.Ile468Phe Missense 9/20 - 1
17-78083825-AAC-TTT c.1408_1410delinsTTT p.Asn470Phe Missense 9/20 - 1
17-78083826-A-C c.1409A>C p.Asn470Thr Missense 9/20 - 1
17-78083828-CGAGA-C c.1411_1414del p.Glu471Profs*5 Frameshift 9/20 - 3
17-78083831-AC-TG c.1414_1415delinsTG p.Thr472Cys Missense 9/20 - 1
17-78083837-C-T c.1420C>T p.Gln474* Nonsense 9/20 - 1
17-78083840-C-G c.1423C>G p.Pro475Ala Missense 9/20 - 1
17-78083841-C-T c.1424C>T p.Pro475Leu Missense 9/20 - 1
17-78083843-C-A c.1426C>A p.Leu476Met Missense 9/20 - 1
17-78083848-TT-T c.1431del p.Ile477Metfs*43 Frameshift 9/20 - 2
17-78083849-G-A c.1432G>A p.Gly478Arg Missense 9/20 - 1
17-78083854-G-A c.1437G>A p.Lys479Lys Synonymous 9/20 - 2
17-78083854-G-C c.1437G>C p.Lys479Asn Missense 9/20 - 1
17-78083855-G-A c.1437+1G>A - IntronicSNV - 9/19 3
17-78083856-T-C c.1437+2T>C - IntronicSNV - 9/19 7
17-78084418-G-A c.1438-108G>A - IntronicSNV - 9/19 1
17-78084507-G-C c.1438-19G>C - IntronicSNV - 9/19 1
17-78084519-TTGT-T c.1438-7_1438-5del - IntronicDeletion - 9/19 1
17-78084525-G-T c.1438-1G>T - IntronicSNV - 9/19 3
17-78084525-G-C c.1438-1G>C - IntronicSNV - 9/19 3
17-78084529-ATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGA-A c.1441_1499del p.Trp481Glyfs*5 InFrameDeletion 10/20 - 1
17-78084529-AT-A c.1441del p.Trp481Glyfs*39 Frameshift 10/20 - 1
17-78084529-T-C c.1441T>C p.Trp481Arg Missense 10/20 - 3
17-78084530-G-A c.1442G>A p.Trp481* Nonsense 10/20 - 1
17-78084533-C-G c.1445C>G p.Pro482Arg Missense 10/20 - 2
17-78084533-C-T c.1445C>T p.Pro482Leu Missense 10/20 - 1
17-78084534-CC-C c.1446del p.Ser484Profs*36 Frameshift 10/20 - 1
17-78084535-G-T c.1447G>T p.Gly483Trp Missense 10/20 - 1
17-78084535-G-A c.1447G>A p.Gly483Arg Missense 10/20 - 5
17-78084536-G-T c.1448G>T p.Gly483Val Missense 10/20 - 1
17-78084537-GGTCCACTG-G c.1449_1456del p.Ser484Leufs*19 Frameshift 10/20 - 1
17-78084544-G-C c.1456G>C p.Ala486Pro Missense 10/20 - 2
17-78084553-G-A c.1465G>A p.Asp489Asn Missense 10/20 - 5
17-78084553-G-T c.1465G>T p.Asp489Tyr Missense 10/20 - 2
17-78084554-A-G c.1466A>G p.Asp489Gly Missense 10/20 - 2
17-78084556-T-C c.1468T>C p.Phe490Leu Missense 10/20 - 1
17-78084558-C-A c.1470C>A p.Phe490Leu Missense 10/20 - 1
17-78084565-C-T c.1477C>T p.Pro493Ser Missense 10/20 - 1
17-78084566-C-T c.1478C>T p.Pro493Leu Missense 10/20 - 3
17-78084571-G-A c.1483G>A p.Ala495Thr Missense 10/20 - 1
17-78084571-G-C c.1483G>C p.Ala495Pro Missense 10/20 - 1
17-78084578-C-G c.1490C>G p.Ala497Gly Missense 10/20 - 1
17-78084583-T-A c.1495T>A p.Trp499Arg Missense 10/20 - 2
17-78084583-T-C c.1495T>C p.Trp499Arg Missense 10/20 - 2
17-78084584-G-A c.1496G>A p.Trp499* Nonsense 10/20 - 3
17-78084585-G-A c.1497G>A p.Trp499* Nonsense 10/20 - 1
17-78084592-A-G c.1504A>G p.Met502Val Missense 10/20 - 1
17-78084597-G-T c.1509G>T p.Val503Val Synonymous 10/20 - 1
17-78084597-G-A c.1509G>A p.Val503Val Synonymous 10/20 - 1
17-78084597-G-C c.1509G>C p.Val503Val Synonymous 10/20 - 1
17-78084620-C-A c.1532C>A p.Pro511His Missense 10/20 - 2
17-78084626-A-G c.1538A>G p.Asp513Gly Missense 10/20 - 1
17-78084627-C-A c.1539C>A p.Asp513Glu Missense 10/20 - 1
17-78084627-C-G c.1539C>G p.Asp513Glu Missense 10/20 - 1
17-78084636-G-A c.1548G>A p.Trp516* Nonsense 10/20 - 13
17-78084637-GATT-G c.1549_1551del p.Ile517del InFrameDeletion 10/20 - 1
17-78084638-T-C c.1550T>C p.Ile517Thr Missense 10/20 - 1
17-78084640-G-T c.1551+1G>T - IntronicSNV - 10/19 2
17-78084640-G-C c.1551+1G>C - IntronicSNV - 10/19 3
17-78084640-G-A c.1551+1G>A - IntronicSNV - 10/19 2
17-78084641-T-G c.1551+2T>G - IntronicSNV - 10/19 1
17-78084706-GG-G c.1552-34del - IntronicDeletion - 10/19 1
17-78084737-C-G c.1552-3C>G - IntronicSNV - 10/19 3
17-78084740-G-A c.1552G>A p.Asp518Asn Missense 11/20 - 1
17-78084743-A-G c.1555A>G p.Met519Val Missense 11/20 - 2
17-78084744-T-C c.1556T>C p.Met519Thr Missense 11/20 - 1
17-78084745-G-A c.1557G>A p.Met519Ile Missense 11/20 - 1
17-78084749-G-A c.1561G>A p.Glu521Lys Missense 11/20 - 3
17-78084750-A-T c.1562A>T p.Glu521Val Missense 11/20 - 2
17-78084752-C-G c.1564C>G p.Pro522Ala Missense 11/20 - 3
17-78084767-CAG-C c.1579_1580del p.Arg527Glyfs*3 Frameshift 11/20 - 2
17-78084767-CA-C c.1579del p.Arg527Glyfs*51 Frameshift 11/20 - 1
17-78084767-AGG-TTT c.1579_1581delinsTTT p.Arg527Phe Missense 11/20 - 1
17-78084767-A-C c.1579A>C p.Arg527Arg Synonymous 11/20 - 1
17-78084769-G-A c.1581G>A p.Arg527Arg Synonymous 11/20 - 2
17-78084773-TC-GT c.1585_1586delinsGT p.Ser529Val Missense 11/20 - 2
17-78084779-G-GG c.1591dup p.Asp531Glyfs*7 Frameshift 11/20 - 1
17-78084782-G-A c.1594G>A p.Gly532Ser Missense 11/20 - 1
17-78084814-C-G c.1626C>G p.Pro542Pro Synonymous 11/20 - 2
17-78084815-T-G c.1627T>G p.Tyr543Asp Missense 11/20 - 2
17-78084822-C-T c.1634C>T p.Pro545Leu Missense 11/20 - 13
17-78084825-G-C c.1636+1G>C - IntronicSNV - 11/19 1
17-78084829-G-C c.1636+5G>C - IntronicSNV - 11/19 1
17-78084829-G-T c.1636+5G>T - IntronicSNV - 11/19 1
17-78085780-A-G c.1637-2A>G - IntronicSNV - 11/19 2
17-78085787-G-T c.1642G>T p.Val548Phe Missense 12/20 - 5
17-78085790-G-C c.1645G>C p.Gly549Arg Missense 12/20 - 4
17-78085790-G-A c.1645G>A p.Gly549Arg Missense 12/20 - 4
17-78085795-GG-G c.1650del p.Thr551Profs*27 Frameshift 12/20 - 1
17-78085795-G-GG c.1650dup p.Thr551Aspfs*85 Frameshift 12/20 - 3
17-78085799-CC-C c.1654del p.Leu552Serfs*26 Frameshift 12/20 - 3
17-78085800-T-C c.1655T>C p.Leu552Pro Missense 12/20 - 22
17-78085802-C-T c.1657C>T p.Gln553* Nonsense 12/20 - 4
17-78085809-C-G c.1664C>G p.Ala555Gly Missense 12/20 - 1
17-78085812-C-T c.1667C>T p.Thr556Ile Missense 12/20 - 1
17-78085814-A-T c.1669A>T p.Ile557Phe Missense 12/20 - 1
17-78085832-C-CC c.1687dup p.Gln563Profs*73 Frameshift 12/20 - 1
17-78085832-C-T c.1687C>T p.Gln563* Nonsense 12/20 - 6
17-78085833-A-G c.1688A>G p.Gln563Arg Missense 12/20 - 1
17-78085839-CTCTC-C c.1694_1697del p.Leu565Profs*12 Frameshift 12/20 - 1
17-78085841-T-C c.1696T>C p.Ser566Pro Missense 12/20 - 3
17-78085844-AC-GA c.1699_1700delinsGA p.Thr567Glu Missense 12/20 - 1
17-78085844-A-G c.1699A>G p.Thr567Ala Missense 12/20 - 1
17-78085848-A-T c.1703A>T p.His568Leu Missense 12/20 - 1
17-78085850-T-TT c.1705dup p.Tyr569Leufs*67 Frameshift 12/20 - 1
17-78085855-C-G c.1710C>G p.Asn570Lys Missense 12/20 - 3
17-78085861-C-G c.1716C>G p.His572Gln Missense 12/20 - 2
17-78085864-C-A c.1719C>A p.Asn573Lys Missense 12/20 - 1
17-78085869-A-C c.1724A>C p.Tyr575Ser Missense 12/20 - 1
17-78085871-G-A c.1726G>A p.Gly576Ser Missense 12/20 - 32
17-78085871-G-C c.1726G>C p.Gly576Arg Missense 12/20 - 1
17-78085880-G-A c.1735G>A p.Glu579Lys Missense 12/20 - 3
17-78085881-GAAG-G c.1736_1738del p.Glu579del InFrameDeletion 12/20 - 1
17-78085898-CAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTT-C c.1753_1754+57del - SpliceDonorDeletion 12/20 12/19 1
17-78085900-G-A c.1754+1G>A - IntronicSNV - 12/19 2
17-78085901-T-A c.1754+2T>A - IntronicSNV - 12/19 2
17-78086376-G-A c.1755-1G>A - IntronicSNV - 12/19 1
17-78086381-C-T c.1759C>T p.Leu587Leu Synonymous 13/20 - 1
17-78086399-GA-G c.1777del p.Thr593Hisfs*5 Frameshift 13/20 - 1
17-78086403-G-A c.1781G>A p.Arg594His Missense 13/20 - 4
17-78086404-C-T c.1782C>T p.Arg594Arg Synonymous 13/20 - 1
17-78086404-C-A c.1782C>A p.Arg594Arg Synonymous 13/20 - 1
17-78086404-C-G c.1782C>G p.Arg594Arg Synonymous 13/20 - 1
17-78086405-C-T c.1783C>T p.Pro595Ser Missense 13/20 - 1
17-78086411-GTG-TGT c.1789_1791delinsTGT p.Val597Cys Missense 13/20 - 1
17-78086418-C-A c.1796C>A p.Ser599Tyr Missense 13/20 - 1
17-78086418-C-G c.1796C>G p.Ser599Cys Missense 13/20 - 1
17-78086420-C-T c.1798C>T p.Arg600Cys Missense 13/20 - 9
17-78086421-G-T c.1799G>T p.Arg600Leu Missense 13/20 - 1
17-78086421-G-A c.1799G>A p.Arg600His Missense 13/20 - 4
17-78086424-C-G c.1802C>G p.Ser601Trp Missense 13/20 - 1
17-78086424-C-T c.1802C>T p.Ser601Leu Missense 13/20 - 10
17-78086424-C-A c.1802C>A p.Ser601* Nonsense 13/20 - 1
17-78086427-C-T c.1805C>T p.Thr602Ile Missense 13/20 - 1
17-78086432-G-A c.1810G>A p.Ala604Thr Missense 13/20 - 1
17-78086444-CCGA-C c.1822_1824del p.Arg608del InFrameDeletion 13/20 - 1
17-78086444-C-T c.1822C>T p.Arg608* Nonsense 13/20 - 6
17-78086448-A-AA c.1826dup p.Tyr609* Nonsense 13/20 - 5
17-78086449-AC-A c.1827del p.Tyr609* Frameshift 13/20 - 4
17-78086449-C-G c.1827C>G p.Tyr609* Nonsense 13/20 - 2
17-78086451-C-T c.1829C>T p.Ala610Val Missense 13/20 - 1
17-78086452-C-A c.1830C>A p.Ala610Ala Synonymous 13/20 - 1
17-78086452-C-T c.1830C>T p.Ala610Ala Synonymous 13/20 - 2
17-78086452-C-G c.1830C>G p.Ala610Ala Synonymous 13/20 - 1
17-78086454-G-A c.1832G>A p.Gly611Asp Missense 13/20 - 1
17-78086455-GCCACTGG-G c.1833_1839del p.His612Argfs*82 Frameshift 13/20 - 1
17-78086456-C-T c.1834C>T p.His612Tyr Missense 13/20 - 1
17-78086457-A-C c.1835A>C p.His612Pro Missense 13/20 - 1
17-78086458-C-G c.1836C>G p.His612Gln Missense 13/20 - 1
17-78086463-C-A c.1841C>A p.Thr614Lys Missense 13/20 - 6
17-78086465-G-A c.1843G>A p.Gly615Arg Missense 13/20 - 9
17-78086466-G-A c.1844G>A p.Gly615Glu Missense 13/20 - 1
17-78086468-G-T c.1846G>T p.Asp616Tyr Missense 13/20 - 2
17-78086471-GTG-TTT c.1849_1851delinsTTT p.Val617Phe Missense 13/20 - 1
17-78086475-G-A c.1853G>A p.Trp618* Nonsense 13/20 - 1
17-78086476-G-A c.1854G>A p.Trp618* Nonsense 13/20 - 1
17-78086478-G-A c.1856G>A p.Ser619Asn Missense 13/20 - 4
17-78086479-C-G c.1857C>G p.Ser619Arg Missense 13/20 - 8
17-78086502-C-T c.1880C>T p.Ser627Phe Missense 13/20 - 8
17-78086511-G-A c.1888+1G>A - IntronicSNV - 13/19 2
17-78086674-G-A c.1889-1G>A - IntronicSNV - 13/19 2
17-78086681-T-G c.1895T>G p.Leu632Arg Missense 14/20 - 1
17-78086689-A-G c.1903A>G p.Asn635Asp Missense 14/20 - 1
17-78086691-C-A c.1905C>A p.Asn635Lys Missense 14/20 - 3
17-78086692-CT-GC c.1906_1907delinsGC p.Leu636Ala Missense 14/20 - 1
17-78086695-C-A c.1909C>A p.Leu637Met Missense 14/20 - 1
17-78086696-CTGGGGGTGC-C c.1910_1918del p.Leu637_Val639del InFrameDeletion 14/20 - 3
17-78086698-G-T c.1912G>T p.Gly638Trp Missense 14/20 - 5
17-78086699-G-T c.1913G>T p.Gly638Val Missense 14/20 - 1
17-78086706-T-G c.1920T>G p.Pro640Pro Synonymous 14/20 - 1
17-78086710-G-T c.1924G>T p.Val642Phe Missense 14/20 - 1
17-78086713-G-A c.1927G>A p.Gly643Arg Missense 14/20 - 10
17-78086719-G-T c.1933G>T p.Asp645Tyr Missense 14/20 - 3
17-78086719-G-C c.1933G>C p.Asp645His Missense 14/20 - 2
17-78086719-G-A c.1933G>A p.Asp645Asn Missense 14/20 - 17
17-78086721-C-A c.1935C>A p.Asp645Glu Missense 14/20 - 34
17-78086727-C-G c.1941C>G p.Cys647Trp Missense 14/20 - 4
17-78086728-G-A c.1942G>A p.Gly648Ser Missense 14/20 - 5
17-78086764-C-T c.1978C>T p.Arg660Cys Missense 14/20 - 6
17-78086765-G-A c.1979G>A p.Arg660His Missense 14/20 - 6
17-78086771-C-T c.1985C>T p.Thr662Ile Missense 14/20 - 1
17-78086773-CC-C c.1987del p.Gln663Serfs*33 Frameshift 14/20 - 2
17-78086776-CT-GC c.1990_1991delinsGC p.Leu664Ala Missense 14/20 - 1
17-78086779-G-A c.1993G>A p.Gly665Arg Missense 14/20 - 1
17-78086790-C-A c.2004C>A p.Tyr668* Nonsense 14/20 - 1
17-78086798-T-G c.2012T>G p.Met671Arg Missense 14/20 - 3
17-78086800-C-T c.2014C>T p.Arg672Trp Missense 14/20 - 4
17-78086801-G-A c.2015G>A p.Arg672Gln Missense 14/20 - 3
17-78086806-C-G c.2020C>G p.His674Asp Missense 14/20 - 1
17-78086810-AACA-A c.2024_2026del p.Asn675del InFrameDeletion 14/20 - 3
17-78086826-G-A c.2040G>A p.Leu680Leu Synonymous 14/20 - 1
17-78086827-G-T c.2040+1G>T - IntronicSNV - 14/19 1
17-78086846-A-G c.2040+20A>G - IntronicSNV - 14/19 1
17-78087015-A-C c.2041-2A>C - IntronicSNV - 14/19 1
17-78087016-G-A c.2041-1G>A - IntronicSNV - 14/19 1
17-78087027-C-G c.2051C>G p.Pro684Arg Missense 15/20 - 1
17-78087027-C-A c.2051C>A p.Pro684Gln Missense 15/20 - 1
17-78087027-C-T c.2051C>T p.Pro684Leu Missense 15/20 - 1
17-78087041-G-A c.2065G>A p.Glu689Lys Missense 15/20 - 23
17-78087041-G-C c.2065G>C p.Glu689Gln Missense 15/20 - 1
17-78087041-GA-AG c.2065_2066delinsAG p.Glu689Arg Missense 15/20 - 1
17-78087045-C-T c.2069C>T p.Pro690Leu Missense 15/20 - 2
17-78087046-G-A c.2070G>A p.Pro690Pro Synonymous 15/20 - 1
17-78087047-G-GAA c.2071_2072insAA p.Ala691Glufs*6 Frameshift 15/20 - 1
17-78087050-C-T c.2074C>T p.Gln692* Nonsense 15/20 - 3
17-78087054-A-AA c.2078dup p.Ala694Glyfs*43 Frameshift 15/20 - 2
17-78087080-C-T c.2104C>T p.Arg702Cys Missense 15/20 - 5
17-78087081-G-T c.2105G>T p.Arg702Leu Missense 15/20 - 5
17-78087081-G-A c.2105G>A p.Arg702His Missense 15/20 - 2
17-78087081-G-C c.2105G>C p.Arg702Pro Missense 15/20 - 1
17-78087090-T-C c.2114T>C p.Leu705Pro Missense 15/20 - 1
17-78087107-A-G c.2131A>G p.Thr711Ala Missense 15/20 - 1
17-78087108-C-G c.2132C>G p.Thr711Arg Missense 15/20 - 1
17-78087109-A-G c.2133A>G p.Thr711Thr Synonymous 15/20 - 3
17-78087116-CC-C c.2140del p.His714Thrfs*50 Frameshift 15/20 - 1
17-78087130-C-T c.2154C>T p.Val718Val Synonymous 15/20 - 1
17-78087130-C-G c.2154C>G p.Val718Val Synonymous 15/20 - 1
17-78087130-C-A c.2154C>A p.Val718Val Synonymous 15/20 - 1
17-78087131-G-A c.2155G>A p.Ala719Thr Missense 15/20 - 1
17-78087132-C-G c.2156C>G p.Ala719Gly Missense 15/20 - 1
17-78087133-G-A c.2157G>A p.Ala719Ala Synonymous 15/20 - 1
17-78087137-G-T c.2161G>T p.Glu721* Nonsense 15/20 - 1
17-78087137-GA-AG c.2161_2162delinsAG p.Glu721Arg Missense 15/20 - 1
17-78087143-G-A c.2167G>A p.Val723Met Missense 15/20 - 3
17-78087144-GT-G c.2168del p.Val723Glyfs*41 Frameshift 15/20 - 1
17-78087146-G-GG c.2170dup p.Ala724Glyfs*13 Frameshift 15/20 - 1
17-78087147-C-A c.2171C>A p.Ala724Asp Missense 15/20 - 1
17-78087149-C-T c.2173C>T p.Arg725Trp Missense 15/20 - 5
17-78087150-G-A c.2174G>A p.Arg725Gln Missense 15/20 - 1
17-78087153-C-G c.2177C>G p.Pro726Arg Missense 15/20 - 1
17-78087164-G-T c.2188G>T p.Glu730* Nonsense 15/20 - 2
17-78087166-G-A c.2189+1G>A - IntronicSNV - 15/19 2
17-78087168-G-C c.2189+3G>C - IntronicSNV - 15/19 1
17-78090081-G-A c.2190-686G>A - IntronicSNV - 15/19 3
17-78090422-A-G c.2190-345A>G - IntronicSNV - 15/19 2
17-78090782-T-TT c.2205dup p.Ser736* Nonsense 16/20 - 1
17-78090787-C-A c.2210C>A p.Thr737Asn Missense 16/20 - 2
17-78090791-G-A c.2214G>A p.Trp738* Nonsense 16/20 - 3
17-78090796-GTG-G c.2219_2220del p.Val740Glyfs*55 Frameshift 16/20 - 5
17-78090798-G-A c.2221G>A p.Asp741Asn Missense 16/20 - 2
17-78090804-C-T c.2227C>T p.Gln743* Nonsense 16/20 - 1
17-78090811-T-C c.2234T>C p.Leu745Pro Missense 16/20 - 1
17-78090813-T-G c.2236T>G p.Trp746Gly Missense 16/20 - 2
17-78090813-T-C c.2236T>C p.Trp746Arg Missense 16/20 - 4
17-78090814-G-C c.2237G>C p.Trp746Ser Missense 16/20 - 3
17-78090814-G-A c.2237G>A p.Trp746* Nonsense 16/20 - 21
17-78090814-G-T c.2237G>T p.Trp746Leu Missense 16/20 - 2
17-78090815-G-C c.2238G>C p.Trp746Cys Missense 16/20 - 18
17-78090815-G-A c.2238G>A p.Trp746* Nonsense 16/20 - 14
17-78090817-G-A c.2240G>A p.Gly747Glu Missense 16/20 - 1
17-78090819-G-GG c.2242dup p.Glu748Glyfs*48 Frameshift 16/20 - 3
17-78090838-C-CC c.2261dup p.Val755Serfs*41 Frameshift 16/20 - 1
17-78090846-C-T c.2269C>T p.Gln757* Nonsense 16/20 - 2
17-78090853-G-C c.2276G>C p.Gly759Ala Missense 16/20 - 1
17-78090870-G-A c.2293G>A p.Gly765Ser Missense 16/20 - 1
17-78090874-A-G c.2297A>G p.Tyr766Cys Missense 16/20 - 2
17-78090874-A-C c.2297A>C p.Tyr766Ser Missense 16/20 - 6
17-78090877-TT-T c.2300del p.Phe767Serfs*14 Frameshift 16/20 - 1
17-78090879-C-T c.2302C>T p.Pro768Ser Missense 16/20 - 1
17-78090880-C-T c.2303C>T p.Pro768Leu Missense 16/20 - 1
17-78090881-C-CC c.2304dup p.Thr771Hisfs*25 Frameshift 16/20 - 1
17-78090907-C-T c.2330C>T p.Thr777Met Missense 16/20 - 1
17-78090910-T-A c.2331+2T>A - IntronicSNV - 16/19 4
17-78090910-T-C c.2331+2T>C - IntronicSNV - 16/19 1
17-78090912-A-G c.2331+4A>G - IntronicSNV - 16/19 1
17-78091405-G-A c.2338G>A p.Val780Ile Missense 17/20 - 2
17-78091447-C-CC c.2380dup p.Arg794Profs*2 Frameshift 17/20 - 1
17-78091474-C-T c.2407C>T p.Gln803* Nonsense 17/20 - 1
17-78091475-CAGTGGGTGACGCTGCCGGC-C c.2408_2426del p.Gln803Profs*39 Frameshift 17/20 - 1
17-78091498-C-CC c.2431dup p.Leu811Profs*73 Frameshift 17/20 - 2
17-78091498-CC-C c.2431del p.Leu811Trpfs*37 Frameshift 17/20 - 2
17-78091499-CT-C c.2432del p.Leu811Argfs*37 Frameshift 17/20 - 2
17-78091506-C-CC c.2439dup p.Ile814Hisfs*70 Frameshift 17/20 - 1
17-78091513-G-A c.2446G>A p.Val816Ile Missense 17/20 - 2
17-78091513-G-C c.2446G>C p.Val816Leu Missense 17/20 - 1
17-78091523-G-C c.2456G>C p.Arg819Pro Missense 17/20 - 2
17-78091525-G-T c.2458G>T p.Ala820Ser Missense 17/20 - 1
17-78091526-GCTG-G c.2459_2461del p.Ala820del InFrameDeletion 17/20 - 1
17-78091527-T-TT c.2460dup p.Gly821Trpfs*63 Frameshift 17/20 - 1
17-78091548-G-C c.2481G>C p.Gln827His Missense 17/20 - 1
17-78091548-G-T c.2481G>T p.Gln827His Missense 17/20 - 1
17-78091550-T-C c.2481+2T>C - IntronicSNV - 17/19 1
17-78091658-GCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAG-G c.2481+114_2481+172del - Unclassified - 17/19 15
17-78091990-A-G c.2482-2A>G - IntronicSNV - 17/19 1
17-78091993-GGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTG-G c.2483_2541del p.Gly828Aspfs*36 InFrameDeletion 18/20 - 11
17-78092005-ACA-A c.2495_2496del p.Thr832Asnfs*51 Frameshift 18/20 - 1
17-78092011-C-G c.2501C>G p.Thr834Arg Missense 18/20 - 1
17-78092011-ACA-A c.2501_2502del p.Thr834Argfs*49 Frameshift 18/20 - 1
17-78092019-C-T c.2509C>T p.Arg837Cys Missense 18/20 - 1
17-78092020-CG-C c.2510del p.Arg837Profs*11 Frameshift 18/20 - 1
17-78092020-G-A c.2510G>A p.Arg837His Missense 18/20 - 2
17-78092022-C-T c.2512C>T p.Gln838* Nonsense 18/20 - 4
17-78092038-T-C c.2528T>C p.Leu843Pro Missense 18/20 - 1
17-78092040-GGCTGTGGCCCTG-G c.2530_2541del p.Ala844_Leu847del InFrameDeletion 18/20 - 1
17-78092054-CC-C c.2544del p.Lys849Argfs*38 Frameshift 18/20 - 1
17-78092062-G-A c.2552G>A p.Gly851Glu Missense 18/20 - 1
17-78092063-G-T c.2553G>T p.Gly851Gly Synonymous 18/20 - 2
17-78092063-G-C c.2553G>C p.Gly851Gly Synonymous 18/20 - 3
17-78092063-G-A c.2553G>A p.Gly851Gly Synonymous 18/20 - 3
17-78092070-C-T c.2560C>T p.Arg854* Nonsense 18/20 - 52
17-78092088-G-A c.2578G>A p.Asp860Asn Missense 18/20 - 1
17-78092112-C-A c.2602C>A p.Leu868Met Missense 18/20 - 1
17-78092118-C-T c.2608C>T p.Arg870* Nonsense 18/20 - 8
17-78092129-C-G c.2619C>G p.Tyr873* Nonsense 18/20 - 1
17-78092131-C-T c.2621C>T p.Thr874Ile Missense 18/20 - 1
17-78092153-G-GT c.2643_2644insT p.Asn882* Nonsense 18/20 - 1
17-78092154-GAAT-G c.2644_2646del p.Asn883del InFrameDeletion 18/20 - 1
17-78092155-A-AA c.2645dup p.Asn882Lysfs*2 SpliceDonorInsertion 18/20 - 1
17-78092158-GTG-G c.2646+2_2646+3del - SpliceDonorDeletion - 18/19 3
17-78092158-T-A c.2646+2T>A - IntronicSNV - 18/19 1
17-78092445-G-A c.2647-7G>A - IntronicSNV - 18/19 1
17-78092460-TCG-T c.2655_2656del p.Val886Glufs*2 Frameshift 19/20 - 1
17-78092467-G-T c.2662G>T p.Glu888* Nonsense 19/20 - 6
17-78092511-AG-A c.2706del p.Lys903Argfs*2 Frameshift 19/20 - 1
17-78092521-G-A c.2716G>A p.Val906Ile Missense 19/20 - 1
17-78092543-C-G c.2738C>G p.Pro913Arg Missense 19/20 - 2
17-78092543-C-T c.2738C>T p.Pro913Leu Missense 19/20 - 1
17-78092546-CAG-C c.2741_2742del p.Gln914Profs*103 Frameshift 19/20 - 1
17-78092548-C-CCAGG c.2743_2744insCAGG p.Gln915Profs*104 Frameshift 19/20 - 1
17-78092549-A-G c.2744A>G p.Gln915Arg Missense 19/20 - 1
17-78092549-A-C c.2744A>C p.Gln915Pro Missense 19/20 - 2
17-78092562-C-T c.2757C>T p.Asn919Asn Synonymous 19/20 - 1
17-78092575-T-C c.2770T>C p.Ser924Pro Missense 19/20 - 1
17-78092585-C-T c.2780C>T p.Thr927Ile Missense 19/20 - 2
17-78092588-A-G c.2783A>G p.Tyr928Cys Missense 19/20 - 2
17-78092590-A-G c.2785A>G p.Ser929Gly Missense 19/20 - 1
17-78092609-G-A c.2799+5G>A - IntronicSNV - 19/19 1
17-78093075-T-C c.2804T>C p.Leu935Pro Missense 20/20 - 1
17-78093086-TGT-T c.2815_2816del p.Val939Leufs*78 Frameshift 20/20 - 1
17-78093114-T-TT c.2843dup p.Val949Argfs*69 Frameshift 20/20 - 1
17-78093221-G-A c.*91G>A - 3-UTRSNV 20/20 - 1
17-78093353-C-G c.*223C>G - 3-UTRSNV 20/20 - 2
17-78093353-C-T c.*223C>T - 3-UTRSNV 20/20 - 2