ERBB2 erb-b2 receptor tyrosine kinase 2

Annotation transcript: NM_004448.4

1726 unique variant annotations were identified in 1956 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
17-37856332-C-T c.-160C>T - 5-UTRSNV 1/27 - 1
17-37856412-A-C c.-80A>C - 5-UTRSNV 1/27 - 1
17-37856493-ATGGAGCTGGCGGCCTTGTGCCGCTGGGGGCTCCTCCTCGCCCTCTTGCCCCCCGGAGCC-A c.2_60del p.M1_?20 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion 1/27 - 1
17-37856497-G-A c.6G>A p.E2= Synonymous 1/27 - 3
17-37856506-C-A c.15C>A p.A5= Synonymous 1/27 - 1
17-37856506-C-G c.15C>G p.A5= Synonymous 1/27 - 1
17-37856506-C-T c.15C>T p.A5= Synonymous 1/27 - 1
17-37856507-T-C c.16T>C p.L6= Synonymous 1/27 - 1
17-37856509-G-A c.18G>A p.L6= Synonymous 1/27 - 1
17-37856513-C-A c.22C>A p.R8S Missense 1/27 - 1
17-37856516-T-G c.25T>G p.W9G Missense 1/27 - 1
17-37856517-G-A c.26G>A p.W9* Nonsense 1/27 - 1
17-37856521-G-GT c.30_31insT p.L11Sfs*99 Frameshift 1/27 - 1
17-37856526-T-G c.35T>G p.L12R Missense 1/27 - 1
17-37856528-CT-GC c.37_38delinsGC p.L13A Missense 1/27 - 10
17-37856530-C-CG c.40dup p.A14Gfs*96 Frameshift 1/27 - 1
17-37856531-G-C c.40G>C p.A14P Missense 1/27 - 4
17-37856531-GC-AA c.40_41delinsAA p.A14N Missense 1/27 - 1
17-37856531-GCC-ATG c.40_42delinsATG p.A14M Missense 1/27 - 1
17-37856531-GC-CG c.40_41delinsCG p.A14R Missense 1/27 - 1
17-37856531-GCC-TAA c.40_42delinsTAA p.A14* Nonsense 1/27 - 1
17-37856531-GC-TA c.40_41delinsTA p.A14Y Missense 1/27 - 4
17-37856531-GC-TG c.40_41delinsTG p.A14C Missense 1/27 - 2
17-37856531-G-T c.40G>T p.A14S Missense 1/27 - 1
17-37856532-C-A c.41C>A p.A14D Missense 1/27 - 1
17-37856532-CC-AG c.41_42delinsAG p.A14E Missense 1/27 - 2
17-37856532-C-T c.41C>T p.A14V Missense 1/27 - 4
17-37856533-C-A c.42C>A p.A14= Synonymous 1/27 - 3
17-37856533-C-G c.42C>G p.A14= Synonymous 1/27 - 3
17-37856533-C-T c.42C>T p.A14= Synonymous 1/27 - 3
17-37856534-C-T c.43C>T p.L15F Missense 1/27 - 1
17-37856540-CC-GA c.49_50delinsGA p.P17D Missense 1/27 - 1
17-37856541-C-T c.50C>T p.P17L Missense 1/27 - 2
17-37856542-C-A c.51C>A p.P17= Synonymous 1/27 - 5
17-37856542-C-G c.51C>G p.P17= Synonymous 1/27 - 5
17-37856542-C-T c.51C>T p.P17= Synonymous 1/27 - 5
17-37856543-C-A c.52C>A p.P18T Missense 1/27 - 1
17-37856543-CC-GA c.52_53delinsGA p.P18D Missense 1/27 - 1
17-37856548-A-C c.57A>C p.G19= Synonymous 1/27 - 1
17-37856548-A-G c.57A>G p.G19= Synonymous 1/27 - 1
17-37856548-A-T c.57A>T p.G19= Synonymous 1/27 - 1
17-37856549-G-A c.58G>A p.A20T Missense 1/27 - 3
17-37856549-GC-AA c.58_59delinsAA p.A20N Missense 1/27 - 1
17-37856549-GC-TG c.58_59delinsTG p.A20C Missense 1/27 - 1
17-37856549-GC-TT c.58_59delinsTT p.A20F Missense 1/27 - 1
17-37856550-C-A c.59C>A p.A20D Missense 1/27 - 4
17-37856550-CC-AG c.59_60delinsAG p.A20E Missense 1/27 - 2
17-37856551-C-A c.60C>A p.A20= Synonymous 1/27 - 3
17-37856551-C-G c.60C>G p.A20= Synonymous 1/27 - 3
17-37856551-C-T c.60C>T p.A20= Synonymous 1/27 - 3
17-37856552-G-A c.61G>A p.A21T Missense 1/27 - 1
17-37856552-G-C c.61G>C p.A21P Missense 1/27 - 1
17-37856552-GCG-TTT c.61_63delinsTTT p.A21F Missense 1/27 - 1
17-37856553-C-G c.62C>G p.A21G Missense 1/27 - 1
17-37856553-CG-AC c.62_63delinsAC p.A21D Missense 1/27 - 2
17-37856553-CGAGCACCCAAGGTGGGTCTGGTGTGGGGAGGGGACGGAGCAGCGGCGGGACCCTGCCCT-C c.64_73+49del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/27 1/26 1
17-37856555-AG-GC c.64_65delinsGC p.S22A Missense 1/27 - 2
17-37856555-A-T c.64A>T p.S22C Missense 1/27 - 1
17-37856556-G-A c.65G>A p.S22N Missense 1/27 - 2
17-37856556-G-T c.65G>T p.S22I Missense 1/27 - 1
17-37856556-G-GC c.66dup p.T23Hfs*87 Frameshift 1/27 - 1
17-37856558-ACC-A c.69_70del p.Q24Sfs*85 Frameshift 1/27 - 1
17-37856561-CAA-GAC c.70_72delinsGAC p.Q24D Missense 1/27 - 1
17-37856647-G-A c.73+83G>A - IntronicSNV - 1/26 1
17-37858678-A-G c.73+2114A>G - IntronicSNV - 1/26 2
17-37858678-A-T c.73+2114A>T - IntronicSNV - 1/26 2
17-37859083-G-C c.73+2519G>C - IntronicSNV - 1/26 1
17-37861126-C-T c.74-2117C>T - IntronicSNV - 1/26 1
17-37861718-T-C c.74-1525T>C - IntronicSNV - 1/26 9
17-37861718-T-G c.74-1525T>G - IntronicSNV - 1/26 9
17-37863245-T-A c.76T>A p.C26S Missense 2/27 - 1
17-37863245-TG-AC c.76_77delinsAC p.C26T Missense 2/27 - 1
17-37863245-TGC-GAG c.76_78delinsGAG p.C26E Missense 2/27 - 1
17-37863245-TG-GC c.76_77delinsGC p.C26A Missense 2/27 - 2
17-37863246-G-C c.77G>C p.C26S Missense 2/27 - 1
17-37863251-G-A c.82G>A p.G28S Missense 2/27 - 1
17-37863252-G-A c.83G>A p.G28D Missense 2/27 - 1
17-37863254-A-G c.85A>G p.T29A Missense 2/27 - 1
17-37863254-CA-C c.85del p.T29Qfs*3 Frameshift 2/27 - 1
17-37863257-GAC-AAG c.88_90delinsAAG p.D30K Missense 2/27 - 1
17-37863257-GA-TG c.88_89delinsTG p.D30C Missense 2/27 - 1
17-37863257-GA-TT c.88_89delinsTT p.D30F Missense 2/27 - 1
17-37863259-C-T c.90C>T p.D30= Synonymous 2/27 - 1
17-37863263-AA-GC c.94_95delinsGC p.K32A Missense 2/27 - 1
17-37863266-C-G c.97C>G p.L33V Missense 2/27 - 1
17-37863269-C-T c.100C>T p.R34W Missense 2/27 - 2
17-37863270-G-A c.101G>A p.R34Q Missense 2/27 - 1
17-37863272-C-T c.103C>T p.L35F Missense 2/27 - 1
17-37863272-CT-GC c.103_104delinsGC p.L35A Missense 2/27 - 2
17-37863275-CC-GA c.106_107delinsGA p.P36D Missense 2/27 - 1
17-37863276-C-T c.107C>T p.P36L Missense 2/27 - 1
17-37863278-G-A c.109G>A p.A37T Missense 2/27 - 1
17-37863278-GC-AT c.109_110delinsAT p.A37I Missense 2/27 - 1
17-37863278-G-T c.109G>T p.A37S Missense 2/27 - 1
17-37863279-CC-AG c.110_111delinsAG p.A37E Missense 2/27 - 2
17-37863280-C-A c.111C>A p.A37= Synonymous 2/27 - 1
17-37863280-C-G c.111C>G p.A37= Synonymous 2/27 - 1
17-37863280-C-T c.111C>T p.A37= Synonymous 2/27 - 1
17-37863283-GTC-G c.114_115del p.P39Rfs*70 Frameshift 2/27 - 1
17-37863287-G-A c.118G>A p.E40K Missense 2/27 - 3
17-37863287-GAG-TGT c.118_120delinsTGT p.E40C Missense 2/27 - 1
17-37863288-A-C c.119A>C p.E40A Missense 2/27 - 1
17-37863289-G-C c.120G>C p.E40D Missense 2/27 - 1
17-37863289-G-T c.120G>T p.E40D Missense 2/27 - 1
17-37863290-A-G c.121A>G p.T41A Missense 2/27 - 4
17-37863291-C-T c.122C>T p.T41I Missense 2/27 - 1
17-37863295-C-A c.126C>A p.H42Q Missense 2/27 - 1
17-37863295-C-G c.126C>G p.H42Q Missense 2/27 - 1
17-37863300-A-T c.131A>T p.D44V Missense 2/27 - 1
17-37863302-AT-GA c.133_134delinsGA p.M45E Missense 2/27 - 2
17-37863302-AT-TA c.133_134delinsTA p.M45* Nonsense 2/27 - 1
17-37863305-CT-AG c.136_137inv p.L46S Missense 2/27 - 1
17-37863305-CTC-AAG c.136_138delinsAAG p.L46K Missense 2/27 - 1
17-37863305-CT-TG c.136_137delinsTG p.L46C Missense 2/27 - 1
17-37863308-C-G c.139C>G p.R47G Missense 2/27 - 1
17-37863308-C-T c.139C>T p.R47C Missense 2/27 - 1
17-37863309-G-A c.140G>A p.R47H Missense 2/27 - 4
17-37863313-C-A c.144C>A p.H48Q Missense 2/27 - 1
17-37863313-C-G c.144C>G p.H48Q Missense 2/27 - 1
17-37863315-T-A c.146T>A p.L49H Missense 2/27 - 1
17-37863315-T-G c.146T>G p.L49R Missense 2/27 - 2
17-37863321-A-G c.152A>G p.Q51R Missense 2/27 - 1
17-37863324-G-T c.155G>T p.G52V Missense 2/27 - 1
17-37863326-T-C c.157T>C p.C53R Missense 2/27 - 1
17-37863328-GCC-G c.159_160del p.C53* Frameshift 2/27 - 1
17-37863335-G-T c.166G>T p.V56L Missense 2/27 - 1
17-37863338-C-T c.169C>T p.Q57* Nonsense 2/27 - 1
17-37863339-A-G c.170A>G p.Q57R Missense 2/27 - 3
17-37863340-G-A c.171G>A p.Q57= Synonymous 2/27 - 1
17-37863340-G-T c.171G>T p.Q57H Missense 2/27 - 1
17-37863339-AG-A c.173del p.G58Efs*34 Frameshift 2/27 - 1
17-37863342-G-A c.173G>A p.G58E Missense 2/27 - 1
17-37863347-C-G c.178C>G p.L60V Missense 2/27 - 1
17-37863350-G-T c.181G>T p.E61* Nonsense 2/27 - 1
17-37863351-A-G c.182A>G p.E61G Missense 2/27 - 2
17-37863351-A-T c.182A>T p.E61V Missense 2/27 - 1
17-37863352-A-C c.183A>C p.E61D Missense 2/27 - 1
17-37863353-CTC-ATG c.184_186delinsATG p.L62M Missense 2/27 - 1
17-37863354-TCAC-T c.187_189del p.T63del InFrameDeletion 2/27 - 1
17-37863357-C-T c.188C>T p.T63I Missense 2/27 - 1
17-37863362-C-T c.193C>T p.L65= Synonymous 2/27 - 1
17-37863365-C-T c.196C>T p.P66S Missense 2/27 - 1
17-37863369-C-T c.200C>T p.T67I Missense 2/27 - 1
17-37863372-A-G c.203A>G p.N68S Missense 2/27 - 1
17-37863374-GCC-ATG c.205_207delinsATG p.A69M Missense 2/27 - 1
17-37863374-GC-CT c.205_206delinsCT p.A69L Missense 2/27 - 1
17-37863374-GC-TT c.205_206delinsTT p.A69F Missense 2/27 - 1
17-37863374-G-T c.205G>T p.A69S Missense 2/27 - 1
17-37863375-CC-AG c.206_207delinsAG p.A69E Missense 2/27 - 1
17-37863375-C-T c.206C>T p.A69V Missense 2/27 - 3
17-37863376-C-A c.207C>A p.A69= Synonymous 2/27 - 1
17-37863376-C-G c.207C>G p.A69= Synonymous 2/27 - 1
17-37863376-C-T c.207C>T p.A69= Synonymous 2/27 - 1
17-37863383-T-A c.214T>A p.S72T Missense 2/27 - 1
17-37863383-T-G c.214T>G p.S72A Missense 2/27 - 1
17-37863384-C-T c.215C>T p.S72F Missense 2/27 - 1
17-37863386-TTC-GAG c.217_219delinsGAG p.F73E Missense 2/27 - 1
17-37863386-TT-GC c.217_218delinsGC p.F73A Missense 2/27 - 1
17-37863389-C-A c.220C>A p.L74M Missense 2/27 - 4
17-37863389-CTG-TTT c.220_222delinsTTT p.L74F Missense 2/27 - 1
17-37863393-A-G c.224A>G p.Q75R Missense 2/27 - 1
17-37864575-GA-G c.227del p.D76Vfs*16 Frameshift 3/27 - 1
17-37864574-GAT-G c.229_230del p.I77Pfs*32 Frameshift 3/27 - 1
17-37864581-A-T c.233A>T p.Q78L Missense 3/27 - 2
17-37864581-A-AG c.235dup p.E79Gfs*31 Frameshift 3/27 - 1
17-37864583-G-A c.235G>A p.E79K Missense 3/27 - 1
17-37864583-GAG-TGT c.235_237delinsTGT p.E79C Missense 3/27 - 1
17-37864583-G-C c.235G>C p.E79Q Missense 3/27 - 1
17-37864582-GGA-G c.236_237del p.E79Gfs*30 Frameshift 3/27 - 1
17-37864584-A-C c.236A>C p.E79A Missense 3/27 - 3
17-37864586-G-A c.238G>A p.V80M Missense 3/27 - 1
17-37864589-C-G c.241C>G p.Q81E Missense 3/27 - 1
17-37864591-G-C c.243G>C p.Q81H Missense 3/27 - 1
17-37864591-G-T c.243G>T p.Q81H Missense 3/27 - 1
17-37864593-G-A c.245G>A p.G82D Missense 3/27 - 1
17-37864598-CG-C c.250del p.V84Cfs*8 Frameshift 3/27 - 1
17-37864598-G-A c.250G>A p.V84M Missense 3/27 - 2
17-37864598-G-C c.250G>C p.V84L Missense 3/27 - 2
17-37864598-G-T c.250G>T p.V84L Missense 3/27 - 2
17-37864607-G-A c.259G>A p.A87T Missense 3/27 - 3
17-37864607-GC-TT c.259_260delinsTT p.A87F Missense 3/27 - 2
17-37864608-C-A c.260C>A p.A87D Missense 3/27 - 1
17-37864608-CT-AG c.260_261inv p.A87E Missense 3/27 - 1
17-37864610-C-A c.262C>A p.H88N Missense 3/27 - 1
17-37864614-A-C c.266A>C p.N89T Missense 3/27 - 1
17-37864614-AC-A c.268del p.Q90Kfs*2 Frameshift 3/27 - 1
17-37864616-C-G c.268C>G p.Q90E Missense 3/27 - 1
17-37864616-C-T c.268C>T p.Q90* Nonsense 3/27 - 1
17-37864618-A-C c.270A>C p.Q90H Missense 3/27 - 1
17-37864618-A-T c.270A>T p.Q90H Missense 3/27 - 1
17-37864622-A-G c.274A>G p.R92G Missense 3/27 - 1
17-37864622-AG-CA c.274_275delinsCA p.R92Q Missense 3/27 - 1
17-37864627-G-A c.279G>A p.Q93= Synonymous 3/27 - 1
17-37864628-G-A c.280G>A p.V94I Missense 3/27 - 1
17-37864631-CCA-AAC c.283_285delinsAAC p.P95N Missense 3/27 - 1
17-37864631-CCA-ATG c.283_285delinsATG p.P95M Missense 3/27 - 1
17-37864631-C-T c.283C>T p.P95S Missense 3/27 - 1
17-37864632-C-G c.284C>G p.P95R Missense 3/27 - 1
17-37864632-C-T c.284C>T p.P95L Missense 3/27 - 3
17-37864634-C-T c.286C>T p.L96= Synonymous 3/27 - 1
17-37864636-G-A c.288G>A p.L96= Synonymous 3/27 - 1
17-37864636-G-C c.288G>C p.L96= Synonymous 3/27 - 1
17-37864636-G-T c.288G>T p.L96= Synonymous 3/27 - 1
17-37864637-C-A c.289C>A p.Q97K Missense 3/27 - 1
17-37864640-A-G c.292A>G p.R98G Missense 3/27 - 2
17-37864640-AG-CA c.292_293delinsCA p.R98Q Missense 3/27 - 1
17-37864643-C-G c.295C>G p.L99V Missense 3/27 - 1
17-37864644-T-A c.296T>A p.L99Q Missense 3/27 - 1
17-37864646-CGG-GAC c.298_300delinsGAC p.R100D Missense 3/27 - 1
17-37864646-C-T c.298C>T p.R100W Missense 3/27 - 3
17-37864647-G-A c.299G>A p.R100Q Missense 3/27 - 1
17-37864652-GTG-TGT c.304_306delinsTGT p.V102C Missense 3/27 - 1
17-37864653-T-C c.305T>C p.V102A Missense 3/27 - 1
17-37864654-G-A c.306G>A p.V102= Synonymous 3/27 - 3
17-37864654-G-C c.306G>C p.V102= Synonymous 3/27 - 4
17-37864654-G-T c.306G>T p.V102= Synonymous 3/27 - 3
17-37864656-G-A c.308G>A p.R103Q Missense 3/27 - 6
17-37864656-G-T c.308G>T p.R103L Missense 3/27 - 1
17-37864659-G-A c.311G>A p.G104D Missense 3/27 - 1
17-37864661-A-G c.313A>G p.T105A Missense 3/27 - 2
17-37864667-C-T c.319C>T p.L107F Missense 3/27 - 2
17-37864672-TGAG-T c.327_329del p.E109del InFrameDeletion 3/27 - 1
17-37864679-AA-GC c.331_332delinsGC p.N111A Missense 3/27 - 1
17-37864679-A-C c.331A>C p.N111H Missense 3/27 - 1
17-37864680-A-G c.332A>G p.N111S Missense 3/27 - 1
17-37864681-C-A c.333C>A p.N111K Missense 3/27 - 1
17-37864681-C-G c.333C>G p.N111K Missense 3/27 - 2
17-37864681-C-T c.333C>T p.N111= Synonymous 3/27 - 1
17-37864685-G-A c.337G>A p.A113T Missense 3/27 - 1
17-37864686-C-T c.338C>T p.A113V Missense 3/27 - 1
17-37864694-G-A c.346G>A p.V116M Missense 3/27 - 1
17-37864694-GTG-TAT c.346_348delinsTAT p.V116Y Missense 3/27 - 1
17-37864702-C-T c.354C>T p.D118= Synonymous 3/27 - 1
17-37864704-A-G c.356A>G p.N119S Missense 3/27 - 1
17-37864706-G-A c.358G>A p.G120R Missense 3/27 - 1
17-37864706-G-C c.358G>C p.G120R Missense 3/27 - 1
17-37864706-GG-AT c.358_359delinsAT p.G120I Missense 3/27 - 1
17-37864712-C-G c.364C>G p.P122A Missense 3/27 - 1
17-37864713-C-T c.365C>T p.P122L Missense 3/27 - 4
17-37864714-G-A c.366G>A p.P122= Synonymous 3/27 - 1
17-37864715-C-T c.367C>T p.L123= Synonymous 3/27 - 1
17-37864721-A-G c.373A>G p.N125D Missense 3/27 - 1
17-37864722-A-T c.374A>T p.N125I Missense 3/27 - 1
17-37864724-AC-TG c.376_377delinsTG p.T126C Missense 3/27 - 1
17-37864733-G-A c.385G>A p.V129I Missense 3/27 - 1
17-37864739-G-A c.391G>A p.G131R Missense 3/27 - 1
17-37864739-G-C c.391G>C p.G131R Missense 3/27 - 1
17-37864746-CC-AA c.398_399delinsAA p.S133* Nonsense 3/27 - 1
17-37864748-CC-GA c.400_401delinsGA p.P134E Missense 3/27 - 1
17-37864748-C-T c.400C>T p.P134S Missense 3/27 - 1
17-37864751-GGA-TGT c.403_405delinsTGT p.G135C Missense 3/27 - 4
17-37864754-G-A c.406G>A p.G136S Missense 3/27 - 1
17-37864755-G-T c.407G>T p.G136V Missense 3/27 - 1
17-37864760-CG-AA c.412_413delinsAA p.R138K Missense 3/27 - 1
17-37864760-C-T c.412C>T p.R138W Missense 3/27 - 2
17-37864761-G-A c.413G>A p.R138Q Missense 3/27 - 1
17-37864761-G-T c.413G>T p.R138L Missense 3/27 - 1
17-37864760-CG-C c.415del p.E139Sfs*11 Frameshift 3/27 - 1
17-37864763-G-T c.415G>T p.E139* Nonsense 3/27 - 1
17-37864764-A-G c.416A>G p.E139G Missense 3/27 - 2
17-37864764-A-T c.416A>T p.E139V Missense 3/27 - 1
17-37864765-G-C c.417G>C p.E139D Missense 3/27 - 2
17-37864765-G-T c.417G>T p.E139D Missense 3/27 - 2
17-37864776-G-A c.428G>A p.R143Q Missense 3/27 - 14
17-37864776-G-C c.428G>C p.R143P Missense 3/27 - 2
17-37864778-AGC-TGA c.430_432delinsTGA p.S144* Nonsense 3/27 - 1
17-37864778-AG-GC c.430_431delinsGC p.S144A Missense 3/27 - 1
17-37864779-G-GC c.433dup p.L145Pfs*56 Frameshift 3/27 - 1
17-37864781-C-T c.433C>T p.L145F Missense 3/27 - 2
17-37864784-ACA-TGT c.436_438inv p.T146C Missense 3/27 - 1
17-37864785-C-T c.437C>T p.T146I Missense 3/27 - 1
17-37865573-A-AC c.442_443insC p.I148Tfs*53 Frameshift 4/27 - 1
17-37865574-T-C c.443T>C p.I148T Missense 4/27 - 1
17-37865576-TTG-ATC c.445_447delinsATC p.L149I Missense 4/27 - 1
17-37865578-G-C c.447G>C p.L149F Missense 4/27 - 1
17-37865578-G-T c.447G>T p.L149F Missense 4/27 - 1
17-37865586-G-A c.455G>A p.G152E Missense 4/27 - 1
17-37865586-G-C c.455G>C p.G152A Missense 4/27 - 4
17-37865586-G-T c.455G>T p.G152V Missense 4/27 - 1
17-37865588-G-C c.457G>C p.V153L Missense 4/27 - 1
17-37865590-C-A c.459C>A p.V153= Synonymous 4/27 - 1
17-37865590-C-G c.459C>G p.V153= Synonymous 4/27 - 1
17-37865590-C-T c.459C>T p.V153= Synonymous 4/27 - 1
17-37865591-T-G c.460T>G p.L154V Missense 4/27 - 1
17-37865595-T-C c.464T>C p.I155T Missense 4/27 - 1
17-37865597-C-A c.466C>A p.Q156K Missense 4/27 - 1
17-37865597-CA-GC c.466_467delinsGC p.Q156A Missense 4/27 - 1
17-37865598-AGC-A c.469_470del p.R157Efs*43 Frameshift 4/27 - 1
17-37865600-C-T c.469C>T p.R157W Missense 4/27 - 7
17-37865601-G-A c.470G>A p.R157Q Missense 4/27 - 2
17-37865609-CAG-AAC c.478_480delinsAAC p.Q160N Missense 4/27 - 1
17-37865619-A-G c.488A>G p.Y163C Missense 4/27 - 3
17-37865625-A-C c.494A>C p.D165A Missense 4/27 - 1
17-37865628-C-T c.497C>T p.T166M Missense 4/27 - 1
17-37865633-TT-AG c.502_503delinsAG p.L168R Missense 4/27 - 1
17-37865637-G-A c.506G>A p.W169* Nonsense 4/27 - 1
17-37865638-G-A c.507G>A p.W169* Nonsense 4/27 - 1
17-37865640-A-C c.509A>C p.K170T Missense 4/27 - 1
17-37865648-T-G c.517T>G p.F173V Missense 4/27 - 1
17-37865651-C-T c.520C>T p.H174Y Missense 4/27 - 2
17-37865654-AA-GC c.523_524delinsGC p.K175A Missense 4/27 - 1
17-37865659-C-A c.528C>A p.N176K Missense 4/27 - 1
17-37865659-C-T c.528C>T p.N176= Synonymous 4/27 - 1
17-37865663-CAG-AAC c.532_534delinsAAC p.Q178N Missense 4/27 - 1
17-37865664-A-T c.533A>T p.Q178L Missense 4/27 - 1
17-37865665-G-A c.534G>A p.Q178= Synonymous 4/27 - 1
17-37865665-G-C c.534G>C p.Q178H Missense 4/27 - 1
17-37865665-G-T c.534G>T p.Q178H Missense 4/27 - 1
17-37865666-C-T c.535C>T p.L179= Synonymous 4/27 - 1
17-37865669-G-A c.538G>A p.A180T Missense 4/27 - 1
17-37865671-T-A c.540T>A p.A180= Synonymous 4/27 - 1
17-37865671-T-C c.540T>C p.A180= Synonymous 4/27 - 1
17-37865671-T-G c.540T>G p.A180= Synonymous 4/27 - 1
17-37865688-CC-TG c.557_558delinsTG p.T186M Missense 4/27 - 1
17-37865692-C-G c.561C>G p.N187K Missense 4/27 - 1
17-37865693-C-T c.562C>T p.R188C Missense 4/27 - 2
17-37865694-G-A c.563G>A p.R188H Missense 4/27 - 2
17-37865697-TC-T c.566del p.S189Ffs*27 Frameshift 4/27 - 1
17-37865699-CGG-TGT c.568_570delinsTGT p.R190C Missense 4/27 - 1
17-37865699-C-T c.568C>T p.R190W Missense 4/27 - 2
17-37865700-G-A c.569G>A p.R190Q Missense 4/27 - 1
17-37866005-C-T c.575-61C>T - IntronicSNV - 4/26 11
17-37866068-C-A c.577C>A p.H193N Missense 5/27 - 1
17-37866068-CA-GC c.577_578delinsGC p.H193A Missense 5/27 - 1
17-37866069-A-C c.578A>C p.H193P Missense 5/27 - 1
17-37866069-A-G c.578A>G p.H193R Missense 5/27 - 2
17-37866071-C-T c.580C>T p.P194S Missense 5/27 - 1
17-37866081-C-T c.590C>T p.P197L Missense 5/27 - 1
17-37866083-AT-GC c.592_593delinsGC p.M198A Missense 5/27 - 1
17-37866083-AT-TA c.592_593delinsTA p.M198* Nonsense 5/27 - 1
17-37866084-T-C c.593T>C p.M198T Missense 5/27 - 1
17-37866086-T-A c.595T>A p.C199S Missense 5/27 - 1
17-37866086-TG-GC c.595_596delinsGC p.C199A Missense 5/27 - 1
17-37866087-G-C c.596G>C p.C199S Missense 5/27 - 1
17-37866091-G-C c.600G>C p.K200N Missense 5/27 - 1
17-37866091-G-T c.600G>T p.K200N Missense 5/27 - 1
17-37866092-G-A c.601G>A p.G201S Missense 5/27 - 2
17-37866093-G-A c.602G>A p.G201D Missense 5/27 - 1
17-37866096-CC-AA c.605_606delinsAA p.S202* Nonsense 5/27 - 1
17-37866099-G-A c.608G>A p.R203H Missense 5/27 - 2
17-37866099-GC-AA c.608_609delinsAA p.R203Q Missense 5/27 - 1
17-37866107-GGA-AGC c.616_618delinsAGC p.G206S Missense 5/27 - 1
17-37866110-G-A c.619G>A p.E207K Missense 5/27 - 1
17-37866111-A-C c.620A>C p.E207A Missense 5/27 - 1
17-37866113-AG-GC c.622_623delinsGC p.S208A Missense 5/27 - 1
17-37866116-TC-GA c.625_626inv p.S209D Missense 5/27 - 1
17-37866116-T-G c.625T>G p.S209A Missense 5/27 - 2
17-37866118-T-C c.627T>C p.S209= Synonymous 5/27 - 1
17-37866119-GA-AG c.628_629delinsAG p.E210R Missense 5/27 - 1
17-37866119-G-T c.628G>T p.E210* Nonsense 5/27 - 1
17-37866121-G-A c.630G>A p.E210= Synonymous 5/27 - 1
17-37866339-T-G c.644T>G p.L215R Missense 6/27 - 1
17-37866339-TG-AT c.644_645delinsAT p.L215H Missense 6/27 - 1
17-37866134-C-T c.643C>T p.L215= Synonymous 5/27 - 2
17-37866340-G-A c.645G>A p.L215= Synonymous 6/27 - 1
17-37866340-G-C c.645G>C p.L215= Synonymous 6/27 - 1
17-37866340-G-T c.645G>T p.L215= Synonymous 6/27 - 1
17-37866341-A-T c.646A>T p.T216S Missense 6/27 - 1
17-37866342-C-T c.647C>T p.T216M Missense 6/27 - 2
17-37866344-C-T c.649C>T p.R217C Missense 6/27 - 2
17-37866345-G-A c.650G>A p.R217H Missense 6/27 - 1
17-37866348-C-T c.653C>T p.T218I Missense 6/27 - 1
17-37866353-T-A c.658T>A p.C220S Missense 6/27 - 2
17-37866353-TG-GT c.658_659delinsGT p.C220V Missense 6/27 - 1
17-37866354-G-C c.659G>C p.C220S Missense 6/27 - 2
17-37866356-G-A c.661G>A p.A221T Missense 6/27 - 1
17-37866358-C-T c.663C>T p.A221= Synonymous 6/27 - 1
17-37866359-G-T c.664G>T p.G222C Missense 6/27 - 5
17-37866363-G-T c.668G>T p.G223V Missense 6/27 - 1
17-37866365-T-A c.670T>A p.C224S Missense 6/27 - 1
17-37866366-G-C c.671G>C p.C224S Missense 6/27 - 1
17-37866371-CGC-GAG c.676_678delinsGAG p.R226E Missense 6/27 - 1
17-37866371-CG-GC c.676_677delinsGC p.R226A Missense 6/27 - 2
17-37866371-C-T c.676C>T p.R226C Missense 6/27 - 1
17-37866372-G-A c.677G>A p.R226H Missense 6/27 - 3
17-37866374-T-A c.679T>A p.C227S Missense 6/27 - 1
17-37866375-G-C c.680G>C p.C227S Missense 6/27 - 1
17-37866379-G-C c.684G>C p.K228N Missense 6/27 - 1
17-37866379-G-T c.684G>T p.K228N Missense 6/27 - 1
17-37866383-C-T c.688C>T p.P230S Missense 6/27 - 1
17-37866384-C-T c.689C>T p.P230L Missense 6/27 - 2
17-37866386-CTG-TTT c.691_693delinsTTT p.L231F Missense 6/27 - 1
17-37866386-C-T c.691C>T p.L231= Synonymous 6/27 - 1
17-37866388-G-A c.693G>A p.L231= Synonymous 6/27 - 1
17-37866388-G-C c.693G>C p.L231= Synonymous 6/27 - 1
17-37866388-G-T c.693G>T p.L231= Synonymous 6/27 - 1
17-37866389-C-T c.694C>T p.P232S Missense 6/27 - 1
17-37866388-GC-G c.696del p.T233Lfs*64 Frameshift 6/27 - 1
17-37866392-CA-C c.697del p.T233Lfs*64 Frameshift 6/27 - 1
17-37866393-C-T c.698C>T p.T233I Missense 6/27 - 1
17-37866399-G-A c.704G>A p.C235Y Missense 6/27 - 1
17-37866399-G-T c.704G>T p.C235F Missense 6/27 - 1
17-37866407-G-A c.712G>A p.E238K Missense 6/27 - 1
17-37866407-G-C c.712G>C p.E238Q Missense 6/27 - 1
17-37866408-A-T c.713A>T p.E238V Missense 6/27 - 1
17-37866410-C-A c.715C>A p.Q239K Missense 6/27 - 1
17-37866411-A-T c.716A>T p.Q239L Missense 6/27 - 1
17-37866413-T-C c.718T>C p.C240R Missense 6/27 - 1
17-37866416-G-A c.721G>A p.A241T Missense 6/27 - 2
17-37866416-G-T c.721G>T p.A241S Missense 6/27 - 1
17-37866417-C-T c.722C>T p.A241V Missense 6/27 - 1
17-37866422-G-A c.727G>A p.G243S Missense 6/27 - 1
17-37866428-A-C c.733A>C p.T245P Missense 6/27 - 1
17-37866428-A-G c.733A>G p.T245A Missense 6/27 - 1
17-37866429-C-T c.734C>T p.T245M Missense 6/27 - 2
17-37866429-CG-C c.737del p.G246Afs*51 Frameshift 6/27 - 1
17-37866434-CC-AT c.739_740delinsAT p.P247I Missense 6/27 - 1
17-37866434-C-T c.739C>T p.P247S Missense 6/27 - 1
17-37866443-TC-GA c.748_749inv p.S250D Missense 6/27 - 1
17-37866444-C-A c.749C>A p.S250Y Missense 6/27 - 1
17-37866444-C-T c.749C>T p.S250F Missense 6/27 - 3
17-37866446-G-A c.751G>A p.D251N Missense 6/27 - 1
17-37866450-G-T c.755G>T p.C252F Missense 6/27 - 1
17-37866599-CTC-TAA c.766_768delinsTAA p.L256* Nonsense 7/27 - 1
17-37866607-C-T c.774C>T p.F258= Synonymous 7/27 - 1
17-37866609-A-G c.776A>G p.N259S Missense 7/27 - 2
17-37866613-C-A c.780C>A p.H260Q Missense 7/27 - 3
17-37866613-C-G c.780C>G p.H260Q Missense 7/27 - 3
17-37866614-AG-GA c.781_782delinsGA p.S261D Missense 7/27 - 1
17-37866614-AG-GC c.781_782delinsGC p.S261A Missense 7/27 - 1
17-37866619-GC-G c.786del p.I263Sfs*34 Frameshift 7/27 - 1
17-37866620-A-C c.787A>C p.I263L Missense 7/27 - 1
17-37866620-AT-GC c.787_788delinsGC p.I263A Missense 7/27 - 1
17-37866621-T-A c.788T>A p.I263N Missense 7/27 - 1
17-37866621-T-C c.788T>C p.I263T Missense 7/27 - 2
17-37866626-G-A c.793G>A p.E265K Missense 7/27 - 5
17-37866629-C-A c.796C>A p.L266M Missense 7/27 - 2
17-37866635-TG-AC c.802_803delinsAC p.C268T Missense 7/27 - 1
17-37866641-GCC-TGG c.808_810delinsTGG p.A270W Missense 7/27 - 1
17-37866641-G-T c.808G>T p.A270S Missense 7/27 - 4
17-37866647-G-A c.814G>A p.V272I Missense 7/27 - 1
17-37866647-G-C c.814G>C p.V272L Missense 7/27 - 1
17-37866661-A-C c.828A>C p.T276= Synonymous 7/27 - 1
17-37866661-A-G c.828A>G p.T276= Synonymous 7/27 - 1
17-37866661-A-T c.828A>T p.T276= Synonymous 7/27 - 1
17-37866662-G-A c.829G>A p.D277N Missense 7/27 - 1
17-37866662-G-C c.829G>C p.D277H Missense 7/27 - 6
17-37866662-G-T c.829G>T p.D277Y Missense 7/27 - 9
17-37866663-A-G c.830A>G p.D277G Missense 7/27 - 1
17-37866663-A-T c.830A>T p.D277V Missense 7/27 - 3
17-37866664-C-A c.831C>A p.D277E Missense 7/27 - 1
17-37866664-C-G c.831C>G p.D277E Missense 7/27 - 1
17-37866666-C-A c.833C>A p.T278K Missense 7/27 - 1
17-37866667-G-A c.834G>A p.T278= Synonymous 7/27 - 1
17-37866667-G-C c.834G>C p.T278= Synonymous 7/27 - 1
17-37866667-G-T c.834G>T p.T278= Synonymous 7/27 - 1
17-37866668-T-A c.835T>A p.F279I Missense 7/27 - 1
17-37866671-G-A c.838G>A p.E280K Missense 7/27 - 1
17-37866672-A-C c.839A>C p.E280A Missense 7/27 - 1
17-37866675-C-A c.842C>A p.S281Y Missense 7/27 - 1
17-37866675-C-T c.842C>T p.S281F Missense 7/27 - 1
17-37866680-C-T c.847C>T p.P283S Missense 7/27 - 1
17-37866686-C-A c.853C>A p.P285T Missense 7/27 - 1
17-37866685-TC-T c.855del p.E286Rfs*11 Frameshift 7/27 - 1
17-37866689-G-A c.856G>A p.E286K Missense 7/27 - 1
17-37866689-G-T c.856G>T p.E286* Nonsense 7/27 - 1
17-37866695-C-T c.862C>T p.R288W Missense 7/27 - 1
17-37866696-G-A c.863G>A p.R288Q Missense 7/27 - 4
17-37866698-TA-CT c.865_866delinsCT p.Y289L Missense 7/27 - 19
17-37866701-A-G c.868A>G p.T290A Missense 7/27 - 1
17-37866702-AC-A c.869del p.T290Nfs*7 Frameshift 7/27 - 1
17-37866702-CA-TG c.869_870inv p.T290M Missense 7/27 - 1
17-37866703-A-G c.870A>G p.T290= Synonymous 7/27 - 1
17-37866707-G-A c.874G>A p.G292S Missense 7/27 - 2
17-37866707-G-C c.874G>C p.G292R Missense 7/27 - 6
17-37866707-G-T c.874G>T p.G292C Missense 7/27 - 1
17-37866708-G-C c.875G>C p.G292A Missense 7/27 - 1
17-37866710-G-A c.877G>A p.A293T Missense 7/27 - 6
17-37866710-G-C c.877G>C p.A293P Missense 7/27 - 1
17-37866711-C-A c.878C>A p.A293D Missense 7/27 - 1
17-37866711-C-T c.878C>T p.A293V Missense 7/27 - 1
17-37866713-AG-GA c.880_881delinsGA p.S294D Missense 7/27 - 1
17-37866713-AG-GC c.880_881delinsGC p.S294A Missense 7/27 - 3
17-37866714-G-T c.881G>T p.S294I Missense 7/27 - 1
17-37866717-G-A c.884G>A p.C295Y Missense 7/27 - 1
17-37866722-A-T c.889A>T p.T297S Missense 7/27 - 1
17-37866723-C-G c.890C>G p.T297S Missense 7/27 - 1
17-37866723-C-T c.890C>T p.T297I Missense 7/27 - 1
17-37866725-G-A c.892G>A p.A298T Missense 7/27 - 1
17-37866726-C-T c.893C>T p.A298V Missense 7/27 - 1
17-37866731-C-T c.898C>T p.P300S Missense 7/27 - 1
17-37866733-C-A c.900C>A p.P300= Synonymous 7/27 - 1
17-37866733-C-G c.900C>G p.P300= Synonymous 7/27 - 1
17-37866733-C-T c.900C>T p.P300= Synonymous 7/27 - 1
17-37868181-GA-G c.902del p.Y301Sfs*22 Frameshift 8/27 - 1
17-37868185-C-A c.906C>A p.N302K Missense 8/27 - 1
17-37868185-C-G c.906C>G p.N302K Missense 8/27 - 2
17-37868192-T-C c.913T>C p.S305P Missense 8/27 - 1
17-37868192-TC-GA c.913_914inv p.S305D Missense 8/27 - 1
17-37868192-TCT-GAG c.913_915delinsGAG p.S305E Missense 8/27 - 1
17-37868192-T-G c.913T>G p.S305A Missense 8/27 - 3
17-37868193-C-G c.914C>G p.S305C Missense 8/27 - 5
17-37868195-A-T c.916A>T p.T306S Missense 8/27 - 1
17-37868196-C-T c.917C>T p.T306M Missense 8/27 - 1
17-37868197-G-A c.918G>A p.T306= Synonymous 8/27 - 1
17-37868198-G-A c.919G>A p.D307N Missense 8/27 - 1
17-37868200-C-T c.921C>T p.D307= Synonymous 8/27 - 1
17-37868201-G-A c.922G>A p.V308M Missense 8/27 - 5
17-37868201-G-C c.922G>C p.V308L Missense 8/27 - 1
17-37868201-G-T c.922G>T p.V308L Missense 8/27 - 1
17-37868201-GT-CC c.922_923delinsCC p.V308P Missense 8/27 - 1
17-37868201-GTG-AAC c.922_924delinsAAC p.V308N Missense 8/27 - 1
17-37868204-G-A c.925G>A p.G309R Missense 8/27 - 1
17-37868205-G-A c.926G>A p.G309E Missense 8/27 - 16
17-37868205-G-C c.926G>C p.G309A Missense 8/27 - 31
17-37868207-T-A c.928T>A p.S310T Missense 8/27 - 1
17-37868207-TC-AA c.928_929delinsAA p.S310N Missense 8/27 - 1
17-37868207-T-G c.928T>G p.S310A Missense 8/27 - 1
17-37868208-C-A c.929C>A p.S310Y Missense 8/27 - 77
17-37868208-CC-AA c.929_930delinsAA p.S310* Nonsense 8/27 - 1
17-37868208-C-T c.929C>T p.S310F Missense 8/27 - 254
17-37868210-T-C c.931T>C p.C311R Missense 8/27 - 7
17-37868210-T-G c.931T>G p.C311G Missense 8/27 - 1
17-37868213-AC-TG c.934_935delinsTG p.T312C Missense 8/27 - 1
17-37868213-CA-C c.934del p.T312Pfs*11 Frameshift 8/27 - 1
17-37868216-C-A c.937C>A p.L313I Missense 8/27 - 4
17-37868216-C-G c.937C>G p.L313V Missense 8/27 - 4
17-37868222-TG-GC c.943_944delinsGC p.C315A Missense 8/27 - 1
17-37868226-C-T c.947C>T p.P316L Missense 8/27 - 1
17-37868223-GC-G c.949del p.L317Cfs*6 Frameshift 8/27 - 1
17-37868231-CA-GC c.952_953delinsGC p.H318A Missense 8/27 - 1
17-37868234-A-G c.955A>G p.N319D Missense 8/27 - 2
17-37868234-A-T c.955A>T p.N319Y Missense 8/27 - 1
17-37868235-A-G c.956A>G p.N319S Missense 8/27 - 1
17-37868241-A-G c.962A>G p.E321G Missense 8/27 - 7
17-37868242-G-C c.963G>C p.E321D Missense 8/27 - 1
17-37868242-G-T c.963G>T p.E321D Missense 8/27 - 1
17-37868244-T-TC c.965_966insC p.T323Dfs*10 Frameshift 8/27 - 1
17-37868256-A-G c.977A>G p.D326G Missense 8/27 - 1
17-37868260-GAA-G c.981_982del p.Q329Afs*3 Frameshift 8/27 - 1
17-37868261-A-T c.982A>T p.T328S Missense 8/27 - 1
17-37868265-A-T c.986A>T p.Q329L Missense 8/27 - 1
17-37868267-C-T c.988C>T p.R330W Missense 8/27 - 2
17-37868268-G-A c.989G>A p.R330Q Missense 8/27 - 1
17-37868270-GTGTGAGAAGTGCAGCAAGCCCTGTGCCCGAGGTACCCACTCACTGCCCCCGAGGCCAGC-G c.993_1021+30del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 8/27 8/26 1
17-37868275-G-A c.996G>A p.E332= Synonymous 8/27 - 1
17-37868276-A-G c.997A>G p.K333E Missense 8/27 - 1
17-37868278-G-C c.999G>C p.K333N Missense 8/27 - 1
17-37868278-G-T c.999G>T p.K333N Missense 8/27 - 1
17-37868279-T-A c.1000T>A p.C334S Missense 8/27 - 8
17-37868280-G-C c.1001G>C p.C334S Missense 8/27 - 8
17-37868282-AG-CC c.1003_1004delinsCC p.S335P Missense 8/27 - 1
17-37868282-AG-GC c.1003_1004delinsGC p.S335A Missense 8/27 - 1
17-37868282-A-T c.1003A>T p.S335C Missense 8/27 - 9
17-37868283-G-T c.1004G>T p.S335I Missense 8/27 - 1
17-37868285-A-T c.1006A>T p.K336* Nonsense 8/27 - 2
17-37868292-G-A c.1013G>A p.C338Y Missense 8/27 - 1
17-37868294-G-A c.1015G>A p.A339T Missense 8/27 - 1
17-37868294-GC-CG c.1015_1016delinsCG p.A339R Missense 8/27 - 1
17-37868297-CG-AA c.1018_1019delinsAA p.R340K Missense 8/27 - 1
17-37868297-C-T c.1018C>T p.R340* Nonsense 8/27 - 1
17-37868298-G-A c.1019G>A p.R340Q Missense 8/27 - 1
17-37868298-G-C c.1019G>C p.R340P Missense 8/27 - 1
17-37868306-C-G c.1021+6C>G - IntronicSNV - 8/26 1
17-37868542-C-G c.1022-33C>G - IntronicSNV - 8/26 1
17-37868542-C-T c.1022-33C>T - IntronicSNV - 8/26 1
17-37868583-G-A c.1030G>A p.G344S Missense 9/27 - 1
17-37868583-G-C c.1030G>C p.G344R Missense 9/27 - 1
17-37868583-G-T c.1030G>T p.G344C Missense 9/27 - 1
17-37868589-G-A c.1036G>A p.G346S Missense 9/27 - 1
17-37868592-A-AC c.1039_1040insC p.M347Tfs*36 Frameshift 9/27 - 1
17-37868595-G-C c.1042G>C p.E348Q Missense 9/27 - 1
17-37868604-C-T c.1051C>T p.R351* Nonsense 9/27 - 2
17-37868605-GA-AT c.1052_1053delinsAT p.R351H Missense 9/27 - 1
17-37868605-G-T c.1052G>T p.R351L Missense 9/27 - 1
17-37868607-G-A c.1054G>A p.E352K Missense 9/27 - 1
17-37868607-G-C c.1054G>C p.E352Q Missense 9/27 - 1
17-37868608-A-C c.1055A>C p.E352A Missense 9/27 - 1
17-37868610-G-T c.1057G>T p.V353L Missense 9/27 - 1
17-37868620-T-C c.1067T>C p.V356A Missense 9/27 - 2
17-37868625-A-C c.1072A>C p.S358R Missense 9/27 - 1
17-37868627-T-A c.1074T>A p.S358R Missense 9/27 - 1
17-37868627-T-G c.1074T>G p.S358R Missense 9/27 - 1
17-37868637-C-T c.1084C>T p.Q362* Nonsense 9/27 - 1
17-37868640-G-A c.1087G>A p.E363K Missense 9/27 - 1
17-37868649-G-C c.1096G>C p.G366R Missense 9/27 - 1
17-37868649-GG-AC c.1096_1097delinsAC p.G366T Missense 9/27 - 1
17-37868654-GCAAGAAGATCTTTGGGAGCCTGGCATTTCT-G c.1101_1130del p.C367_L377delinsW MultiAAMissense 9/27 - 1
17-37868658-A-G c.1105A>G p.K369E Missense 9/27 - 1
17-37868667-GGG-TGT c.1114_1116delinsTGT p.G372C Missense 9/27 - 9
17-37868670-AG-TA c.1117_1118delinsTA p.S373Y Missense 9/27 - 3
17-37868670-A-T c.1117A>T p.S373C Missense 9/27 - 4
17-37868676-G-C c.1123G>C p.A375P Missense 9/27 - 9
17-37868676-GCA-AAC c.1123_1125delinsAAC p.A375N Missense 9/27 - 1
17-37868676-GCA-ATG c.1123_1125delinsATG p.A375M Missense 9/27 - 8
17-37868676-GC-AG c.1123_1124delinsAG p.A375R Missense 9/27 - 2
17-37868682-C-A c.1129C>A p.L377M Missense 9/27 - 2
17-37868686-C-T c.1133C>T p.P378L Missense 9/27 - 1
17-37868691-AG-GC c.1138_1139delinsGC p.S380A Missense 9/27 - 1
17-37868691-AG-TT c.1138_1139delinsTT p.S380F Missense 9/27 - 1
17-37868697-G-C c.1144G>C p.D382H Missense 9/27 - 1
17-37868698-A-T c.1145A>T p.D382V Missense 9/27 - 1
17-37868701-G-A c.1148G>A p.G383E Missense 9/27 - 1
17-37868703-T-G c.1148+2T>G - IntronicSNV - 9/26 1
17-37868715-C-T c.1148+14C>T - IntronicSNV - 9/26 2
17-37870378-G-A c.1149-1161G>A - IntronicSNV - 9/26 1
17-37870378-G-C c.1149-1161G>C - IntronicSNV - 9/26 1
17-37871541-A-C c.1151A>C p.D384A Missense 10/27 - 1
17-37871543-C-A c.1153C>A p.P385T Missense 10/27 - 1
17-37871544-C-A c.1154C>A p.P385Q Missense 10/27 - 1
17-37871546-AG-A c.1156del p.A386Pfs*45 Frameshift 10/27 - 1
17-37871546-G-A c.1156G>A p.A386T Missense 10/27 - 1
17-37871547-C-A c.1157C>A p.A386D Missense 10/27 - 4
17-37871547-C-G c.1157C>G p.A386G Missense 10/27 - 1
17-37871550-C-G c.1160C>G p.S387C Missense 10/27 - 1
17-37871553-A-C c.1163A>C p.N388T Missense 10/27 - 1
17-37871558-G-A c.1168G>A p.A390T Missense 10/27 - 1
17-37871567-C-T c.1177C>T p.Q393* Nonsense 10/27 - 2
17-37871573-G-A c.1183G>A p.E395K Missense 10/27 - 1
17-37871575-G-C c.1185G>C p.E395D Missense 10/27 - 1
17-37871575-G-T c.1185G>T p.E395D Missense 10/27 - 1
17-37871576-C-A c.1186C>A p.Q396K Missense 10/27 - 1
17-37871576-C-T c.1186C>T p.Q396* Nonsense 10/27 - 1
17-37871580-T-C c.1190T>C p.L397P Missense 10/27 - 1
17-37871582-C-T c.1192C>T p.Q398* Nonsense 10/27 - 2
17-37871591-GA-AG c.1201_1202delinsAG p.E401R Missense 10/27 - 1
17-37871591-TG-T c.1201del p.E401Rfs*30 Frameshift 10/27 - 1
17-37871592-A-G c.1202A>G p.E401G Missense 10/27 - 2
17-37871597-C-A c.1207C>A p.L403M Missense 10/27 - 1
17-37871597-C-G c.1207C>G p.L403V Missense 10/27 - 1
17-37871605-G-C c.1215G>C p.E405D Missense 10/27 - 3
17-37871605-G-T c.1215G>T p.E405D Missense 10/27 - 3
17-37871609-ACA-GAC c.1219_1221delinsGAC p.T407D Missense 10/27 - 1
17-37871713-T-C c.1237T>C p.S413P Missense 11/27 - 1
17-37871714-C-T c.1238C>T p.S413L Missense 11/27 - 2
17-37871714-TC-T c.1238del p.S413* Frameshift 11/27 - 1
17-37871715-A-C c.1239A>C p.S413= Synonymous 11/27 - 1
17-37871715-A-G c.1239A>G p.S413= Synonymous 11/27 - 1
17-37871715-A-T c.1239A>T p.S413= Synonymous 11/27 - 1
17-37871723-C-T c.1247C>T p.P416L Missense 11/27 - 1
17-37871724-G-A c.1248G>A p.P416= Synonymous 11/27 - 2
17-37871724-G-C c.1248G>C p.P416= Synonymous 11/27 - 2
17-37871724-G-T c.1248G>T p.P416= Synonymous 11/27 - 2
17-37871728-AG-CC c.1252_1253delinsCC p.S418P Missense 11/27 - 1
17-37871729-G-C c.1253G>C p.S418T Missense 11/27 - 4
17-37871737-G-A c.1261G>A p.D421N Missense 11/27 - 1
17-37871738-A-T c.1262A>T p.D421V Missense 11/27 - 1
17-37871740-C-A c.1264C>A p.L422I Missense 11/27 - 2
17-37871740-C-T c.1264C>T p.L422F Missense 11/27 - 1
17-37871746-G-A c.1270G>A p.V424I Missense 11/27 - 3
17-37871749-T-C c.1273T>C p.F425L Missense 11/27 - 2
17-37871751-C-A c.1275C>A p.F425L Missense 11/27 - 2
17-37871751-C-G c.1275C>G p.F425L Missense 11/27 - 2
17-37871762-A-G c.1286A>G p.Q429R Missense 11/27 - 1
17-37871763-A-C c.1287A>C p.Q429H Missense 11/27 - 1
17-37871763-A-T c.1287A>T p.Q429H Missense 11/27 - 1
17-37871770-C-G c.1294C>G p.R432G Missense 11/27 - 1
17-37871770-C-T c.1294C>T p.R432W Missense 11/27 - 6
17-37871773-G-C c.1297G>C p.G433R Missense 11/27 - 1
17-37871773-GGA-AGC c.1297_1299delinsAGC p.G433S Missense 11/27 - 1
17-37871776-CGA-AGC c.1300_1302delinsAGC p.R434S Missense 11/27 - 1
17-37871777-G-A c.1301G>A p.R434Q Missense 11/27 - 3
17-37871779-A-C c.1303A>C p.I435L Missense 11/27 - 2
17-37871780-T-G c.1304T>G p.I435S Missense 11/27 - 1
17-37871782-C-G c.1306C>G p.L436V Missense 11/27 - 2
17-37871787-C-A c.1311C>A p.H437Q Missense 11/27 - 1
17-37871787-C-G c.1311C>G p.H437Q Missense 11/27 - 1
17-37871790-G-C c.1313+1G>C - IntronicSNV - 11/26 1
17-37872000-T-C c.1321T>C p.Y441H Missense 12/27 - 1
17-37872004-CG-GT c.1325_1326delinsGT p.S442C Missense 12/27 - 4
17-37872004-C-T c.1325C>T p.S442L Missense 12/27 - 2
17-37872009-A-T c.1330A>T p.T444S Missense 12/27 - 1
17-37872010-C-G c.1331C>G p.T444S Missense 12/27 - 1
17-37872021-C-A c.1342C>A p.L448M Missense 12/27 - 1
17-37872027-A-C c.1348A>C p.I450L Missense 12/27 - 1
17-37872034-G-C c.1355G>C p.W452S Missense 12/27 - 1
17-37872035-G-C c.1356G>C p.W452C Missense 12/27 - 1
17-37872035-G-T c.1356G>T p.W452C Missense 12/27 - 4
17-37872037-TG-T c.1362del p.L455Cfs*4 Frameshift 12/27 - 1
17-37872040-GGCT-G c.1364_1366del p.L455del InFrameDeletion 12/27 - 1
17-37872045-C-A c.1366C>A p.R456S Missense 12/27 - 2
17-37872045-CG-AC c.1366_1367delinsAC p.R456T Missense 12/27 - 1
17-37872045-C-T c.1366C>T p.R456C Missense 12/27 - 3
17-37872046-G-A c.1367G>A p.R456H Missense 12/27 - 1
17-37872046-G-T c.1367G>T p.R456L Missense 12/27 - 1
17-37872050-A-G c.1371A>G p.S457= Synonymous 12/27 - 1
17-37872060-C-G c.1381C>G p.L461V Missense 12/27 - 1
17-37872060-CT-GC c.1381_1382delinsGC p.L461A Missense 12/27 - 1
17-37872060-C-T c.1381C>T p.L461= Synonymous 12/27 - 1
17-37872062-G-A c.1383G>A p.L461= Synonymous 12/27 - 1
17-37872062-G-C c.1383G>C p.L461= Synonymous 12/27 - 1
17-37872062-G-T c.1383G>T p.L461= Synonymous 12/27 - 1
17-37872063-G-T c.1384G>T p.G462C Missense 12/27 - 1
17-37872064-G-A c.1385G>A p.G462D Missense 12/27 - 1
17-37872066-AG-CC c.1387_1388delinsCC p.S463P Missense 12/27 - 1
17-37872067-G-A c.1388G>A p.S463N Missense 12/27 - 1
17-37872069-G-T c.1390G>T p.G464* Nonsense 12/27 - 1
17-37872070-G-T c.1391G>T p.G464V Missense 12/27 - 6
17-37872072-C-G c.1393C>G p.L465V Missense 12/27 - 1
17-37872072-CT-AA c.1393_1394delinsAA p.L465K Missense 12/27 - 1
17-37872073-T-G c.1394T>G p.L465R Missense 12/27 - 1
17-37872075-G-A c.1396G>A p.A466T Missense 12/27 - 2
17-37872076-C-T c.1397C>T p.A466V Missense 12/27 - 2
17-37872079-T-G c.1400T>G p.L467R Missense 12/27 - 1
17-37872085-A-G c.1406A>G p.H469R Missense 12/27 - 1
17-37872087-C-T c.1408C>T p.H470Y Missense 12/27 - 1
17-37872096-C-T c.1417C>T p.H473Y Missense 12/27 - 3
17-37872099-C-A c.1420C>A p.L474I Missense 12/27 - 1
17-37872107-C-A c.1428C>A p.F476L Missense 12/27 - 1
17-37872110-TG-T c.1431del p.H478Tfs*78 Frameshift 12/27 - 1
17-37872115-C-T c.1436C>T p.T479M Missense 12/27 - 4
17-37872116-G-A c.1437G>A p.T479= Synonymous 12/27 - 1
17-37872123-T-C c.1444T>C p.W482R Missense 12/27 - 1
17-37872125-G-C c.1446G>C p.W482C Missense 12/27 - 1
17-37872125-G-T c.1446G>T p.W482C Missense 12/27 - 1
17-37872126-G-T c.1447G>T p.D483Y Missense 12/27 - 1
17-37872129-C-T c.1450C>T p.Q484* Nonsense 12/27 - 1
17-37872133-T-G c.1454T>G p.L485R Missense 12/27 - 1
17-37872136-T-C c.1457T>C p.F486S Missense 12/27 - 1
17-37872138-C-G c.1459C>G p.R487G Missense 12/27 - 1
17-37872138-CGG-TAT c.1459_1461delinsTAT p.R487Y Missense 12/27 - 1
17-37872138-C-T c.1459C>T p.R487W Missense 12/27 - 2
17-37872139-G-A c.1460G>A p.R487Q Missense 12/27 - 5
17-37872139-G-C c.1460G>C p.R487P Missense 12/27 - 1
17-37872144-C-T c.1465C>T p.P489S Missense 12/27 - 1
17-37872145-C-T c.1466C>T p.P489L Missense 12/27 - 5
17-37872146-G-C c.1467G>C p.P489= Synonymous 12/27 - 1
17-37872147-CA-GC c.1468_1469delinsGC p.H490A Missense 12/27 - 1
17-37872150-C-G c.1471C>G p.Q491E Missense 12/27 - 1
17-37872153-GC-CG c.1474_1475delinsCG p.A492R Missense 12/27 - 1
17-37872159-C-A c.1480C>A p.L494I Missense 12/27 - 2
17-37872159-C-T c.1480C>T p.L494F Missense 12/27 - 1
17-37872159-CTC-GAG c.1480_1482inv p.L494E Missense 12/27 - 1
17-37872160-T-G c.1481T>G p.L494R Missense 12/27 - 1
17-37872166-C-T c.1487C>T p.T496I Missense 12/27 - 1
17-37872171-A-G c.1492A>G p.N498D Missense 12/27 - 1
17-37872171-A-T c.1492A>T p.N498Y Missense 12/27 - 1
17-37872174-C-T c.1495C>T p.R499W Missense 12/27 - 2
17-37872175-G-A c.1496G>A p.R499Q Missense 12/27 - 1
17-37872182-G-A c.1503G>A p.E501= Synonymous 12/27 - 1
17-37872185-C-G c.1506C>G p.D502E Missense 12/27 - 1
17-37872186-G-A c.1507G>A p.E503K Missense 12/27 - 2
17-37872191-T-TTAA c.1512_1513insTAA p.C504_V505ins* InFrameInsertion 12/27 - 1
17-37872559-G-A c.1519G>A p.E507K Missense 13/27 - 5
17-37872559-G-C c.1519G>C p.E507Q Missense 13/27 - 1
17-37872560-A-C c.1520A>C p.E507A Missense 13/27 - 1
17-37872576-C-G c.1536C>G p.H512Q Missense 13/27 - 1
17-37872580-C-G c.1540C>G p.L514V Missense 13/27 - 1
17-37872583-T-C c.1543T>C p.C515R Missense 13/27 - 2
17-37872586-G-A c.1546G>A p.A516T Missense 13/27 - 1
17-37872586-G-T c.1546G>T p.A516S Missense 13/27 - 1
17-37872590-G-A c.1550G>A p.R517Q Missense 13/27 - 1
17-37872593-G-T c.1553G>T p.G518V Missense 13/27 - 1
17-37872596-A-C c.1556A>C p.H519P Missense 13/27 - 1
17-37872598-T-A c.1558T>A p.C520S Missense 13/27 - 1
17-37872602-G-A c.1562G>A p.W521* Nonsense 13/27 - 1
17-37872603-G-A c.1563G>A p.W521* Nonsense 13/27 - 1
17-37872605-G-A c.1565G>A p.G522D Missense 13/27 - 1
17-37872605-G-T c.1565G>T p.G522V Missense 13/27 - 1
17-37872607-C-T c.1567C>T p.P523S Missense 13/27 - 5
17-37872608-C-T c.1568C>T p.P523L Missense 13/27 - 2
17-37872613-C-T c.1573C>T p.P525S Missense 13/27 - 1
17-37872616-A-G c.1576A>G p.T526A Missense 13/27 - 2
17-37872618-C-G c.1578C>G p.T526= Synonymous 13/27 - 1
17-37872619-C-T c.1579C>T p.Q527* Nonsense 13/27 - 1
17-37872624-T-C c.1584T>C p.C528= Synonymous 13/27 - 1
17-37872626-T-C c.1586T>C p.V529A Missense 13/27 - 1
17-37872628-AAC-CAA c.1588_1590delinsCAA p.N530Q Missense 13/27 - 1
17-37872633-C-A c.1593C>A p.C531* Nonsense 13/27 - 1
17-37872637-C-T c.1597C>T p.Q533* Nonsense 13/27 - 1
17-37872646-CG-TA c.1606_1607delinsTA p.R536* Nonsense 13/27 - 1
17-37872646-C-T c.1606C>T p.R536W Missense 13/27 - 3
17-37872647-G-A c.1607G>A p.R536Q Missense 13/27 - 3
17-37872661-G-A c.1621G>A p.V541M Missense 13/27 - 2
17-37872664-G-A c.1624G>A p.E542K Missense 13/27 - 29
17-37872665-A-G c.1625A>G p.E542G Missense 13/27 - 1
17-37872665-A-T c.1625A>T p.E542V Missense 13/27 - 1
17-37872673-CG-AA c.1633_1634delinsAA p.R545K Missense 13/27 - 1
17-37872674-G-A c.1634G>A p.R545Q Missense 13/27 - 1
17-37872681-G-T c.1641G>T p.L547= Synonymous 13/27 - 1
17-37872685-G-A c.1645G>A p.G549R Missense 13/27 - 1
17-37872685-G-C c.1645G>C p.G549R Missense 13/27 - 1
17-37872685-G-T c.1645G>T p.G549W Missense 13/27 - 1
17-37872772-C-T c.1651C>T p.P551S Missense 14/27 - 1
17-37872773-C-T c.1652C>T p.P551L Missense 14/27 - 1
17-37872777-G-C c.1656G>C p.R552S Missense 14/27 - 1
17-37872777-G-T c.1656G>T p.R552S Missense 14/27 - 1
17-37872780-G-C c.1659G>C p.E553D Missense 14/27 - 1
17-37872780-G-T c.1659G>T p.E553D Missense 14/27 - 1
17-37872781-T-A c.1660T>A p.Y554N Missense 14/27 - 1
17-37872784-G-A c.1663G>A p.V555M Missense 14/27 - 1
17-37872794-G-T c.1673G>T p.R558M Missense 14/27 - 1
17-37872800-G-T c.1679G>T p.C560F Missense 14/27 - 1
17-37872803-T-A c.1682T>A p.L561* Nonsense 14/27 - 1
17-37872805-C-T c.1684C>T p.P562S Missense 14/27 - 1
17-37872808-TG-AC c.1687_1688delinsAC p.C563T Missense 14/27 - 1
17-37872814-C-T c.1693C>T p.P565S Missense 14/27 - 1
17-37872817-G-C c.1696G>C p.E566Q Missense 14/27 - 1
17-37872818-A-C c.1697A>C p.E566A Missense 14/27 - 1
17-37872818-A-G c.1697A>G p.E566G Missense 14/27 - 2
17-37872827-C-T c.1706C>T p.P569L Missense 14/27 - 1
17-37872833-A-G c.1712A>G p.N571S Missense 14/27 - 1
17-37872836-G-T c.1715G>T p.G572V Missense 14/27 - 2
17-37872847-T-A c.1726T>A p.C576S Missense 14/27 - 1
17-37872848-G-C c.1727G>C p.C576S Missense 14/27 - 1
17-37872856-C-T c.1735C>T p.P579S Missense 14/27 - 1
17-37872857-C-T c.1736C>T p.P579L Missense 14/27 - 1
17-37872860-T-A c.1737+2T>A - IntronicSNV - 14/26 1
17-37872860-T-C c.1737+2T>C - IntronicSNV - 14/26 1
17-37873573-G-A c.1738G>A p.E580K Missense 15/27 - 1
17-37873573-G-T c.1738G>T p.E580* Nonsense 15/27 - 1
17-37873579-G-A c.1744G>A p.D582N Missense 15/27 - 2
17-37873582-C-A c.1747C>A p.Q583K Missense 15/27 - 1
17-37873592-C-G c.1757C>G p.A586G Missense 15/27 - 1
17-37873598-C-T c.1763C>T p.A588V Missense 15/27 - 1
17-37873604-A-G c.1769A>G p.Y590C Missense 15/27 - 1
17-37873612-C-T c.1777C>T p.P593S Missense 15/27 - 1
17-37873615-C-T c.1780C>T p.P594S Missense 15/27 - 1
17-37873619-T-C c.1784T>C p.F595S Missense 15/27 - 1
17-37873621-T-A c.1786T>A p.C596S Missense 15/27 - 1
17-37873622-G-C c.1787G>C p.C596S Missense 15/27 - 1
17-37873624-G-A c.1789G>A p.V597M Missense 15/27 - 1
17-37873624-GT-TC c.1789_1790delinsTC p.V597S Missense 15/27 - 1
17-37873630-C-T c.1795C>T p.R599C Missense 15/27 - 2
17-37873631-G-A c.1796G>A p.R599H Missense 15/27 - 2
17-37873638-C-T c.1803C>T p.P601= Synonymous 15/27 - 1
17-37873642-G-A c.1807G>A p.G603S Missense 15/27 - 1
17-37873643-G-A c.1808G>A p.G603D Missense 15/27 - 1
17-37873649-A-C c.1814A>C p.K605T Missense 15/27 - 1
17-37873647-G-GA c.1815dup p.P606Tfs*2 Frameshift 15/27 - 1
17-37873657-C-T c.1822C>T p.L608F Missense 15/27 - 1
17-37873661-C-A c.1826C>A p.S609Y Missense 15/27 - 1
17-37873661-C-G c.1826C>G p.S609C Missense 15/27 - 3
17-37873661-C-T c.1826C>T p.S609F Missense 15/27 - 1
17-37873666-AT-GC c.1831_1832delinsGC p.M611A Missense 15/27 - 1
17-37873669-CC-GA c.1834_1835delinsGA p.P612D Missense 15/27 - 1
17-37873669-C-G c.1834C>G p.P612A Missense 15/27 - 1
17-37873670-C-T c.1835C>T p.P612L Missense 15/27 - 1
17-37873671-C-A c.1836C>A p.P612= Synonymous 15/27 - 1
17-37873671-C-G c.1836C>G p.P612= Synonymous 15/27 - 1
17-37873671-C-T c.1836C>T p.P612= Synonymous 15/27 - 1
17-37873674-C-G c.1839C>G p.I613M Missense 15/27 - 1
17-37873681-T-C c.1846T>C p.F616L Missense 15/27 - 4
17-37873683-T-A c.1848T>A p.F616L Missense 15/27 - 3
17-37873683-T-G c.1848T>G p.F616L Missense 15/27 - 3
17-37873684-C-G c.1849C>G p.P617A Missense 15/27 - 1
17-37873690-G-A c.1855G>A p.E619K Missense 15/27 - 1
17-37873691-A-G c.1856A>G p.E619G Missense 15/27 - 1
17-37873693-GAG-ATC c.1858_1860delinsATC p.E620I Missense 15/27 - 1
17-37873694-A-T c.1859A>T p.E620V Missense 15/27 - 1
17-37873698-C-CT c.1863_1864insT p.A622Cfs*18 Frameshift 15/27 - 1
17-37873699-G-A c.1864G>A p.A622T Missense 15/27 - 2
17-37873699-G-T c.1864G>T p.A622S Missense 15/27 - 1
17-37873709-C-T c.1874C>T p.P625L Missense 15/27 - 1
17-37873714-C-G c.1879C>G p.P627A Missense 15/27 - 1
17-37873715-C-A c.1880C>A p.P627H Missense 15/27 - 1
17-37873719-C-G c.1884C>G p.I628M Missense 15/27 - 2
17-37873720-A-G c.1885A>G p.N629D Missense 15/27 - 1
17-37873726-A-G c.1891A>G p.T631A Missense 15/27 - 1
17-37873729-C-T c.1894C>T p.H632Y Missense 15/27 - 1
17-37873731-C-T c.1896C>T p.H632= Synonymous 15/27 - 1
17-37873733-C-T c.1898C>T p.S633F Missense 15/27 - 1
17-37873734-G-A c.1898+1G>A - IntronicSNV - 15/26 1
17-37873735-T-G c.1898+2T>G - IntronicSNV - 15/26 1
17-37873812-GACCAACTCTCCCTTTGTCATATCTTGTTTCTGATGACAAAAATAACACATTGTTAAAAT-G c.1898+79_1898+137del - Unclassified - 15/26 1
17-37873819-TCTCCCTTTGTCATATCTTGTTTCTGATGACAAAAATAACACATTGTTAAAATTGTAAAA-T c.1898+86_1898+144del - Unclassified - 15/26 1
17-37873832-TATCTTGTTTCTGATGACAAAAATAACACATTGTTAAAATTGTAAAATTAAAACATGAAA-T c.1898+99_1898+157del - Unclassified - 15/26 1
17-37873895-AAATTAATGCCCTAGCAGTTCTATCCCCACTGTTAATAATTTGAAATATTTTTCCTCTAG-A c.1898+162_1898+220del - Unclassified - 15/26 1
17-37874163-GTTTAAGCAATTCTCCTGCTTCCGCCTCCTGAGTAGCTGGGATTACGGGAACGTGCTACC-G c.1898+432_1898+490del - Unclassified - 15/26 1
17-37874274-CAGGCTGGTCTCGAACCCCTGACCTCAGGTGATCTGCCAGCCTCGGTCCCCCAAAGTGTT-C c.1898+541_1898+599del - Unclassified - 15/26 1
17-37876041-T-C c.1900T>C p.C634R Missense 16/27 - 3
17-37876043-T-G c.1902T>G p.C634W Missense 16/27 - 1
17-37876046-G-A c.1905G>A p.V635= Synonymous 16/27 - 1
17-37876047-G-A c.1906G>A p.D636N Missense 16/27 - 1
17-37876051-TG-T c.1912del p.D638Mfs*14 Frameshift 16/27 - 1
17-37876057-A-T c.1916A>T p.D639V Missense 16/27 - 1
17-37876059-A-G c.1918A>G p.K640E Missense 16/27 - 1
17-37876062-G-A c.1921G>A p.G641S Missense 16/27 - 1
17-37876063-G-C c.1922G>C p.G641A Missense 16/27 - 1
17-37876067-GCCCCGCCGAGCAGAGAGCCAGGTTGGCCTGGACCCC-G c.1926_1946+15del - SpliceDonorDeletion 16/27 16/26 1
17-37876070-C-A c.1929C>A p.P643= Synonymous 16/27 - 1
17-37876070-C-G c.1929C>G p.P643= Synonymous 16/27 - 1
17-37876070-C-T c.1929C>T p.P643= Synonymous 16/27 - 1
17-37876071-G-A c.1930G>A p.A644T Missense 16/27 - 1
17-37876071-GC-TG c.1930_1931delinsTG p.A644C Missense 16/27 - 1
17-37876071-GC-TT c.1930_1931delinsTT p.A644F Missense 16/27 - 1
17-37876074-G-A c.1933G>A p.E645K Missense 16/27 - 2
17-37876074-GAG-TTT c.1933_1935delinsTTT p.E645F Missense 16/27 - 1
17-37876077-CAG-TGT c.1936_1938delinsTGT p.Q646C Missense 16/27 - 1
17-37876079-G-C c.1938G>C p.Q646H Missense 16/27 - 2
17-37876080-AGA-TGT c.1939_1941delinsTGT p.R647C Missense 16/27 - 1
17-37876081-G-A c.1940G>A p.R647K Missense 16/27 - 1
17-37876081-G-C c.1940G>C p.R647T Missense 16/27 - 1
17-37876083-G-A c.1942G>A p.A648T Missense 16/27 - 1
17-37876083-GC-CT c.1942_1943delinsCT p.A648L Missense 16/27 - 1
17-37876082-AGCCAGGTTGGCCTGGACCCCAGGATGTACCCTTCATT-A c.1945_1946+35del - SpliceDonorDeletion 16/27 16/26 1
17-37876087-AGGTTGGCCTGGACCCCAGGATGTACCCTTCATTGCCCTTCACTCCCCCACTGGATGCTG-A c.1946+3_1946+61del - SpliceDonorDeletion 16/27 16/26 1
17-37876087-G-C c.1946G>C p.S649T Missense 16/27 - 1
17-37876179-C-G c.1946+92C>G - IntronicSNV - 16/26 1
17-37876835-A-G c.1946+748A>G - IntronicSNV - 16/26 15
17-37877412-G-A c.1946+1325G>A - IntronicSNV - 16/26 1
17-37877412-G-C c.1946+1325G>C - IntronicSNV - 16/26 1
17-37877447-C-G c.1946+1360C>G - IntronicSNV - 16/26 1
17-37878113-C-T c.1947-1459C>T - IntronicSNV - 16/26 1
17-37879030-A-G c.1947-542A>G - IntronicSNV - 16/26 2
17-37879573-C-CAGA c.1948_1949insAGA p.P650delinsQT SpliceAcceptorInsertion 17/27 - 1
17-37879573-C-T c.1948C>T p.P650S Missense 17/27 - 1
17-37879574-C-T c.1949C>T p.P650L Missense 17/27 - 1
17-37879576-C-G c.1951C>G p.L651V Missense 17/27 - 3
17-37879576-CT-TG c.1951_1952delinsTG p.L651W Missense 17/27 - 1
17-37879578-G-A c.1953G>A p.L651= Synonymous 17/27 - 1
17-37879579-A-G c.1954A>G p.T652A Missense 17/27 - 1
17-37879580-C-T c.1955C>T p.T652M Missense 17/27 - 1
17-37879583-C-G c.1958C>G p.S653C Missense 17/27 - 11
17-37879585-A-C c.1960A>C p.I654L Missense 17/27 - 4
17-37879585-A-G c.1960A>G p.I654V Missense 17/27 - 20
17-37879588-A-G c.1963A>G p.I655V Missense 17/27 - 107
17-37879588-A-T c.1963A>T p.I655F Missense 17/27 - 23
17-37879588-AT-GC c.1963_1964delinsGC p.I655A Missense 17/27 - 3
17-37879590-C-G c.1965C>G p.I655M Missense 17/27 - 1
17-37879591-T-G c.1966T>G p.S656A Missense 17/27 - 1
17-37879592-C-G c.1967C>G p.S656C Missense 17/27 - 1
17-37879592-C-T c.1967C>T p.S656F Missense 17/27 - 2
17-37879595-C-T c.1970C>T p.A657V Missense 17/27 - 3
17-37879598-T-A c.1973T>A p.V658E Missense 17/27 - 1
17-37879600-G-C c.1975G>C p.V659L Missense 17/27 - 1
17-37879601-T-A c.1976T>A p.V659D Missense 17/27 - 5
17-37879601-T-G c.1976T>G p.V659G Missense 17/27 - 1
17-37879601-TT-AA c.1976_1977inv p.V659E Missense 17/27 - 3
17-37879601-TT-AG c.1976_1977delinsAG p.V659E Missense 17/27 - 67
17-37879603-G-C c.1978G>C p.G660R Missense 17/27 - 6
17-37879603-G-T c.1978G>T p.G660C Missense 17/27 - 2
17-37879604-GC-ACAGG c.1979_1980delinsACAGG p.G660delinsDR MultiAAMissense 17/27 - 1
17-37879604-G-A c.1979G>A p.G660D Missense 17/27 - 35
17-37879606-A-G c.1981A>G p.I661V Missense 17/27 - 1
17-37879609-C-A c.1984C>A p.L662M Missense 17/27 - 2
17-37879609-C-G c.1984C>G p.L662V Missense 17/27 - 1
17-37879612-C-G c.1987C>G p.L663V Missense 17/27 - 1
17-37879613-T-C c.1988T>C p.L663P Missense 17/27 - 2
17-37879613-TG-AT c.1988_1989delinsAT p.L663H Missense 17/27 - 1
17-37879615-G-C c.1990G>C p.V664L Missense 17/27 - 1
17-37879615-G-T c.1990G>T p.V664F Missense 17/27 - 1
17-37879615-GTC-CAA c.1990_1992delinsCAA p.V664Q Missense 17/27 - 1
17-37879616-TC-AG c.1991_1992delinsAG p.V664E Missense 17/27 - 24
17-37879616-T-G c.1991T>G p.V664G Missense 17/27 - 1
17-37879618-G-A c.1993G>A p.V665M Missense 17/27 - 2
17-37879619-TG-AC c.1994_1995delinsAC p.V665D Missense 17/27 - 1
17-37879627-G-A c.2002G>A p.G668R Missense 17/27 - 2
17-37879627-G-C c.2002G>C p.G668R Missense 17/27 - 1
17-37879628-G-A c.2003G>A p.G668E Missense 17/27 - 1
17-37879631-T-C c.2006T>C p.V669A Missense 17/27 - 1
17-37879634-T-G c.2009T>G p.V670G Missense 17/27 - 1
17-37879636-TT-AA c.2011_2012inv p.F671N Missense 17/27 - 1
17-37879639-G-A c.2014G>A p.G672R Missense 17/27 - 1
17-37879639-G-C c.2014G>C p.G672R Missense 17/27 - 1
17-37879642-A-T c.2017A>T p.I673F Missense 17/27 - 1
17-37879645-C-A c.2020C>A p.L674I Missense 17/27 - 1
17-37879645-C-G c.2020C>G p.L674V Missense 17/27 - 1
17-37879646-T-A c.2021T>A p.L674H Missense 17/27 - 1
17-37879647-C-A c.2022C>A p.L674= Synonymous 17/27 - 1
17-37879647-C-G c.2022C>G p.L674= Synonymous 17/27 - 1
17-37879647-C-T c.2022C>T p.L674= Synonymous 17/27 - 1
17-37879648-A-C c.2023A>C p.I675L Missense 17/27 - 1
17-37879650-C-G c.2025C>G p.I675M Missense 17/27 - 1
17-37879652-A-C c.2027A>C p.K676T Missense 17/27 - 1
17-37879652-A-G c.2027A>G p.K676R Missense 17/27 - 1
17-37879654-CG-AC c.2029_2030delinsAC p.R677T Missense 17/27 - 1
17-37879654-CGA-TGG c.2029_2031delinsTGG p.R677W Missense 17/27 - 1
17-37879654-C-T c.2029C>T p.R677* Nonsense 17/27 - 1
17-37879655-G-T c.2030G>T p.R677L Missense 17/27 - 1
17-37879657-CGG-TGT c.2032_2034delinsTGT p.R678C Missense 17/27 - 2
17-37879657-C-T c.2032C>T p.R678W Missense 17/27 - 4
17-37879658-G-A c.2033G>A p.R678Q Missense 17/27 - 85
17-37879660-C-G c.2035C>G p.Q679E Missense 17/27 - 1
17-37879663-CAG-TTT c.2038_2040delinsTTT p.Q680F Missense 17/27 - 1
17-37879664-A-G c.2039A>G p.Q680R Missense 17/27 - 1
17-37879665-G-C c.2040G>C p.Q680H Missense 17/27 - 1
17-37879665-G-T c.2040G>T p.Q680H Missense 17/27 - 1
17-37879668-G-C c.2043G>C p.K681N Missense 17/27 - 3
17-37879668-G-T c.2043G>T p.K681N Missense 17/27 - 2
17-37879669-ATC-CAA c.2044_2046delinsCAA p.I682Q Missense 17/27 - 10
17-37879669-AT-GG c.2044_2045delinsGG p.I682G Missense 17/27 - 1
17-37879670-T-C c.2045T>C p.I682T Missense 17/27 - 2
17-37879671-C-G c.2046C>G p.I682M Missense 17/27 - 1
17-37879673-G-A c.2048G>A p.R683Q Missense 17/27 - 2
17-37879673-G-C c.2048G>C p.R683P Missense 17/27 - 1
17-37879673-G-T c.2048G>T p.R683L Missense 17/27 - 1
17-37879677-AG-A c.2052del p.K684Nfs*17 Frameshift 17/27 - 1
17-37879678-T-C c.2053T>C p.Y685H Missense 17/27 - 1
17-37879681-A-G c.2056A>G p.T686A Missense 17/27 - 1
17-37879684-AT-GG c.2059_2060delinsGG p.M687G Missense 17/27 - 1
17-37879687-C-T c.2062C>T p.R688W Missense 17/27 - 1
17-37879688-G-T c.2063G>T p.R688L Missense 17/27 - 1
17-37879689-G-A c.2064G>A p.R688= Synonymous 17/27 - 1
17-37879690-AGA-TGG c.2065_2067delinsTGG p.R689W Missense 17/27 - 1
17-37879691-G-T c.2066G>T p.R689I Missense 17/27 - 1
17-37879699-C-T c.2074C>T p.Q692* Nonsense 17/27 - 1
17-37879702-G-A c.2077G>A p.E693K Missense 17/27 - 4
17-37879703-A-G c.2078A>G p.E693G Missense 17/27 - 1
17-37879706-C-T c.2081C>T p.T694M Missense 17/27 - 1
17-37879708-G-A c.2083G>A p.E695K Missense 17/27 - 1
17-37879762-G-A c.2086-29G>A - IntronicSNV - 17/26 5
17-37879762-G-T c.2086-29G>T - IntronicSNV - 17/26 5
17-37879794-G-A c.2089G>A p.V697M Missense 18/27 - 1
17-37879794-G-C c.2089G>C p.V697L Missense 18/27 - 8
17-37879794-G-T c.2089G>T p.V697L Missense 18/27 - 7
17-37879795-TGGA-T c.2092_2094del p.E698del InFrameDeletion 18/27 - 1
17-37879796-G-GGTAGAGCTT c.2092_2093insTAGAGCTTG p.V697_E698insVEL InFrameInsertion 18/27 - 1
17-37879798-A-T c.2093A>T p.E698V Missense 18/27 - 1
17-37879796-G-GGAGCTT c.2095_2096insTTGAGC p.E698_P699insLE InFrameInsertion 18/27 - 1
17-37879799-G-GCTTCTT c.2095_2096insTTCTTC p.E698_P699insLL InFrameInsertion 18/27 - 1
17-37879800-C-A c.2095C>A p.P699T Missense 18/27 - 1
17-37879800-C-T c.2095C>T p.P699S Missense 18/27 - 1
17-37879801-C-T c.2096C>T p.P699L Missense 18/27 - 1
17-37879806-A-C c.2101A>C p.T701P Missense 18/27 - 1
17-37879806-A-G c.2101A>G p.T701A Missense 18/27 - 1
17-37879807-C-T c.2102C>T p.T701I Missense 18/27 - 1
17-37879809-C-G c.2104C>G p.P702A Missense 18/27 - 1
17-37879810-C-T c.2105C>T p.P702L Missense 18/27 - 5
17-37879815-G-A c.2110G>A p.G704R Missense 18/27 - 1
17-37879816-G-A c.2111G>A p.G704E Missense 18/27 - 1
17-37879819-C-A c.2114C>A p.A705E Missense 18/27 - 1
17-37879819-C-T c.2114C>T p.A705V Missense 18/27 - 1
17-37879821-AT-GC c.2116_2117delinsGC p.M706A Missense 18/27 - 2
17-37879824-C-A c.2119C>A p.P707T Missense 18/27 - 1
17-37879824-C-T c.2119C>T p.P707S Missense 18/27 - 1
17-37879831-A-T c.2126A>T p.Q709L Missense 18/27 - 6
17-37879834-C-T c.2129C>T p.A710V Missense 18/27 - 4
17-37879837-A-T c.2132A>T p.Q711L Missense 18/27 - 2
17-37879838-G-C c.2133G>C p.Q711H Missense 18/27 - 4
17-37879838-G-T c.2133G>T p.Q711H Missense 18/27 - 4
17-37879839-A-C c.2134A>C p.M712L Missense 18/27 - 2
17-37879839-A-T c.2134A>T p.M712L Missense 18/27 - 2
17-37879840-T-G c.2135T>G p.M712R Missense 18/27 - 1
17-37879843-G-A c.2138G>A p.R713Q Missense 18/27 - 1
17-37879843-G-T c.2138G>T p.R713L Missense 18/27 - 1
17-37879845-ATC-CAA c.2140_2142delinsCAA p.I714Q Missense 18/27 - 4
17-37879849-T-G c.2144T>G p.L715R Missense 18/27 - 1
17-37879852-A-G c.2147A>G p.K716R Missense 18/27 - 1
17-37879853-A-G c.2148A>G p.K716= Synonymous 18/27 - 1
17-37879854-G-A c.2149G>A p.E717K Missense 18/27 - 1
17-37879854-G-C c.2149G>C p.E717Q Missense 18/27 - 1
17-37879856-G-C c.2151G>C p.E717D Missense 18/27 - 3
17-37879856-G-T c.2151G>T p.E717D Missense 18/27 - 3
17-37879864-T-C c.2159T>C p.L720P Missense 18/27 - 2
17-37879864-TG-AT c.2159_2160delinsAT p.L720H Missense 18/27 - 1
17-37879863-C-T c.2158C>T p.L720= Synonymous 18/27 - 1
17-37879865-G-A c.2160G>A p.L720= Synonymous 18/27 - 1
17-37879865-G-C c.2160G>C p.L720= Synonymous 18/27 - 1
17-37879865-G-T c.2160G>T p.L720= Synonymous 18/27 - 1
17-37879866-AGG-TTT c.2161_2163delinsTTT p.R721F Missense 18/27 - 1
17-37879867-GGAA-G c.2164_2166del p.K722del InFrameDeletion 18/27 - 1
17-37879878-G-A c.2173G>A p.V725M Missense 18/27 - 1
17-37879879-T-C c.2174T>C p.V725A Missense 18/27 - 1
17-37879881-C-A c.2176C>A p.L726I Missense 18/27 - 3
17-37879881-C-T c.2176C>T p.L726F Missense 18/27 - 6
17-37879885-G-C c.2180G>C p.G727A Missense 18/27 - 9
17-37879887-T-G c.2182T>G p.S728A Missense 18/27 - 1
17-37879888-C-T c.2183C>T p.S728F Missense 18/27 - 2
17-37879890-G-C c.2185G>C p.G729R Missense 18/27 - 1
17-37879900-G-A c.2195G>A p.G732D Missense 18/27 - 1
17-37879903-C-T c.2198C>T p.T733I Missense 18/27 - 9
17-37879909-A-C c.2204A>C p.Y735S Missense 18/27 - 1
17-37879909-A-G c.2204A>G p.Y735C Missense 18/27 - 2
17-37879911-AA-GC c.2206_2207delinsGC p.K736A Missense 18/27 - 5
17-37879911-CAAG-C c.2206_2208del p.K736del InFrameDeletion 18/27 - 1
17-37879912-A-G c.2207A>G p.K736R Missense 18/27 - 1
17-37880172-GGATCCCTGATGGGGA-G c.2219_2233del p.I740_E744del InFrameDeletion 19/27 - 1
17-37880176-C-CGCATACGTGATG c.2220_2221insGCATACGTGATG p.I740_P741insAYVM InFrameInsertion 19/27 - 1
17-37880176-C-G c.2220C>G p.I740M Missense 19/27 - 1
17-37880180-G-A c.2224G>A p.D742N Missense 19/27 - 3
17-37880180-G-C c.2224G>C p.D742H Missense 19/27 - 1
17-37880192-G-A c.2236G>A p.V746M Missense 19/27 - 1
17-37880195-AA-CC c.2239_2240delinsCC p.K747P Missense 19/27 - 1
17-37880195-GAAAATTCCA-G c.2239_2247del p.K747_P749del InFrameDeletion 19/27 - 1
17-37880194-GAAAATTCCAGTGGCC-G c.2240_2254del p.K747_A751del InFrameDeletion 19/27 - 1
17-37880196-A-AAGGCTCCCC c.2241_2242insGGCTCCCCA p.K747_I748insGSP InFrameInsertion 19/27 - 1
17-37880197-A-C c.2241A>C p.K747N Missense 19/27 - 1
17-37880197-A-T c.2241A>T p.K747N Missense 19/27 - 1
17-37880194-GAAAATTCCAGTGGCCATC-G c.2242_2259del p.I748_K753del InFrameDeletion 19/27 - 1
17-37880199-TT-GG c.2243_2244delinsGG p.I748R Missense 19/27 - 1
17-37880202-C-T c.2246C>T p.P749L Missense 19/27 - 1
17-37880207-GC-TG c.2251_2252delinsTG p.A751C Missense 19/27 - 2
17-37880213-AA-GC c.2257_2258delinsGC p.K753A Missense 19/27 - 8
17-37880213-A-G c.2257A>G p.K753E Missense 19/27 - 10
17-37880214-AA-TG c.2258_2259delinsTG p.K753M Missense 19/27 - 9
17-37880214-A-T c.2258A>T p.K753I Missense 19/27 - 2
17-37880216-G-A c.2260G>A p.V754M Missense 19/27 - 1
17-37880217-T-TTCC c.2261_2262insTCC p.V754_L755insP InFrameInsertion 19/27 - 1
17-37880218-G-GCCCC c.2262_2263insCCCC p.L755Pfs*120 Frameshift 19/27 - 1
17-37880218-G-GCCT c.2262_2263insCCT p.V754_L755insP InFrameInsertion 19/27 - 1
17-37880218-TGTTGAGGGAAAACAC-T c.2262_2276del p.L755_T759del InFrameDeletion 19/27 - 1
17-37880219-T-A c.2263T>A p.L755M Missense 19/27 - 9
17-37880219-T-C c.2263T>C p.L755= Synonymous 19/27 - 1
17-37880219-T-G c.2263T>G p.L755V Missense 19/27 - 1
17-37880219-TT-AG c.2263_2264delinsAG p.L755R Missense 19/27 - 1
17-37880219-TT-CC c.2263_2264delinsCC p.L755P Missense 19/27 - 52
17-37880219-TT-GC c.2263_2264delinsGC p.L755A Missense 19/27 - 7
17-37880221-G-A c.2265G>A p.L755= Synonymous 19/27 - 1
17-37880218-GTTGAGGGAAAACACA-G c.2264_2278del p.L755_T759del InFrameDeletion 19/27 - 7
17-37880220-T-C c.2264T>C p.L755S Missense 19/27 - 209
17-37880220-T-G c.2264T>G p.L755W Missense 19/27 - 11
17-37880220-TGAGGGA-C c.2264_2270delinsC p.L755_E757delinsS MultiAAMissense 19/27 - 1
17-37880220-TTGAGGGA-T c.2264_2270del p.L755* Frameshift 19/27 - 1
17-37880219-T-TTGGCATACGTGA c.2265_2266insGCATACGTGATG p.L755_R756insAYVM InFrameInsertion 19/27 - 1
17-37880221-G-C c.2265G>C p.L755F Missense 19/27 - 6
17-37880221-G-T c.2265G>T p.L755F Missense 19/27 - 6
17-37880223-G-A c.2267G>A p.R756K Missense 19/27 - 1
17-37880224-G-A c.2268G>A p.R756= Synonymous 19/27 - 1
17-37880225-GAA-CCTAGC c.2269_2271delinsCCTAGC p.E757delinsPS MultiAAMissense 19/27 - 1
17-37880225-G-CCTC c.2269delinsCCTC p.E757delinsPQ MultiAAMissense 19/27 - 1
17-37880226-A-C c.2270A>C p.E757A Missense 19/27 - 1
17-37880229-A-C c.2273A>C p.N758T Missense 19/27 - 1
17-37880229-A-G c.2273A>G p.N758S Missense 19/27 - 1
17-37880231-AC-GCACAAAGCCAACA c.2275_2276delinsGCACAAAGCCAACA p.T759delinsAQSQQ MultiAAMissense 19/27 - 1
17-37880231-A-G c.2275A>G p.T759A Missense 19/27 - 1
17-37880231-CACA-C c.2275_2277del p.T759del InFrameDeletion 19/27 - 3
17-37880234-ATCC-A c.2278_2280del p.S760del InFrameDeletion 19/27 - 1
17-37880234-T-G c.2278T>G p.S760A Missense 19/27 - 3
17-37880235-C-T c.2279C>T p.S760F Missense 19/27 - 1
17-37880237-C-A c.2281C>A p.P761T Missense 19/27 - 1
17-37880242-A-G c.2286A>G p.K762= Synonymous 19/27 - 1
17-37880241-A-AAGGCTCCCC c.2287_2288insGCTCCCCAG p.K762_A763insGSP InFrameInsertion 19/27 - 1
17-37880243-G-A c.2287G>A p.A763T Missense 19/27 - 2
17-37880244-C-A c.2288C>A p.A763D Missense 19/27 - 1
17-37880247-AC-GG c.2291_2292delinsGG p.N764R Missense 19/27 - 1
17-37880250-A-G c.2294A>G p.K765R Missense 19/27 - 1
17-37880252-G-C c.2296G>C p.E766Q Missense 19/27 - 1
17-37880253-A-G c.2297A>G p.E766G Missense 19/27 - 1
17-37880254-A-G c.2298A>G p.E766= Synonymous 19/27 - 1
17-37880255-A-G c.2299A>G p.I767V Missense 19/27 - 1
17-37880255-A-T c.2299A>T p.I767F Missense 19/27 - 5
17-37880257-C-A c.2301C>A p.I767= Synonymous 19/27 - 1
17-37880257-C-G c.2301C>G p.I767M Missense 19/27 - 39
17-37880258-T-C c.2302T>C p.L768= Synonymous 19/27 - 1
17-37880258-TTA-AAC c.2302_2304delinsAAC p.L768N Missense 19/27 - 1
17-37880259-T-C c.2303T>C p.L768S Missense 19/27 - 3
17-37880260-A-G c.2304A>G p.L768= Synonymous 19/27 - 1
17-37880261-G-A c.2305G>A p.D769N Missense 19/27 - 12
17-37880261-G-C c.2305G>C p.D769H Missense 19/27 - 63
17-37880261-G-T c.2305G>T p.D769Y Missense 19/27 - 74
17-37880262-A-C c.2306A>C p.D769A Missense 19/27 - 1
17-37880263-C-A c.2307C>A p.D769E Missense 19/27 - 1
17-37880263-C-G c.2307C>G p.D769E Missense 19/27 - 1
17-37880263-C-T c.2307C>T p.D769= Synonymous 19/27 - 1
17-37880264-G-A c.2307+1G>A - IntronicSNV - 19/26 1
17-37880267-A-G c.2307+4A>G - IntronicSNV - 19/26 1
17-37880272-C-T c.2307+9C>T - IntronicSNV - 19/26 1
17-37880289-A-G c.2307+26A>G - IntronicSNV - 19/26 1
17-37880306-C-T c.2307+43C>T - IntronicSNV - 19/26 1
17-37880307-C-T c.2307+44C>T - IntronicSNV - 19/26 1
17-37880311-G-A c.2307+48G>A - IntronicSNV - 19/26 1
17-37880314-T-C c.2307+51T>C - IntronicSNV - 19/26 1
17-37880979-G-A c.2308G>A p.E770K Missense 20/27 - 1
17-37880981-A-AGCATACGTGATG c.2313_2324dup p.Y772_A775dup inframe_insertion 20/27 - 3
17-37880981-A-G c.2310A>G p.E770= Synonymous 20/27 - 1
17-37880981-A-AGGT c.2311_2312insGTG p.E770_A771insG InFrameInsertion 20/27 - 1
17-37880981-A-AGGTATCAGGGAC c.2311_2312insGTATCAGGGACG p.E770_A771insGIRD InFrameInsertion 20/27 - 1
17-37880983-C-T c.2312C>T p.A771V Missense 20/27 - 1
17-37880984-A-ACATTAC c.2313_2314insCATTAC p.A771_Y772insHY InFrameInsertion 20/27 - 1
17-37880985-TA-GC c.2314_2315delinsGC p.Y772A Missense 20/27 - 1
17-37880981-A-AGCATATGTAATG c.2315_2316insTGTAATGGCATA p.Y772_A775dup InFrameInsertion 20/27 - 6
17-37880987-C-CAGGGACGGTGAG c.2316_2317insAGGGACGGTGAG p.Y772_V773insRDGE InFrameInsertion 20/27 - 1
17-37880988-G-A c.2317G>A p.V773M Missense 20/27 - 8
17-37880988-G-C c.2317G>C p.V773L Missense 20/27 - 3
17-37880988-G-T c.2317G>T p.V773L Missense 20/27 - 3
17-37880989-T-C c.2318T>C p.V773A Missense 20/27 - 5
17-37880991-A-T c.2320A>T p.M774L Missense 20/27 - 1
17-37880991-ATG-TGGCTTGTA c.2320_2322delinsTGGCTTGTA p.M774delinsWLV MultiAAMissense 20/27 - 7
17-37880991-GA-G c.2320del p.M774Wfs*17 Frameshift 20/27 - 1
17-37880992-T-C c.2321T>C p.M774T Missense 20/27 - 1
17-37880993-G-A c.2322G>A p.M774I Missense 20/27 - 1
17-37880993-G-C c.2322G>C p.M774I Missense 20/27 - 1
17-37880993-G-T c.2322G>T p.M774I Missense 20/27 - 1
17-37880994-G-GTATGTCATGGCT c.2323_2324insTATGTCATGGCT p.A775delinsVCHGS MultiAAMissense 20/27 - 1
17-37880986-A-ACGTGATGGCCAC c.2324_2325insCACCGTGATGGC p.A775_G776insTVMA InFrameInsertion 20/27 - 1
17-37880990-G-GATGGCATATGTA c.2324_2325insATATGTAATGGC p.Y772_A775dup InFrameInsertion 20/27 - 2
17-37880995-C-T c.2324C>T p.A775V Missense 20/27 - 1
17-37880995-C-CT c.2325dup p.G776Wfs*98 Frameshift 20/27 - 1
17-37880996-CTGGTGT-C c.2325_2330del p.V777_G778del InFrameDeletion 20/27 - 1
17-37880996-T-TTATGTAATGGCA c.2325_2326insTATGTAATGGCA p.Y772_A775dup InFrameInsertion 20/27 - 33
17-37880996-T-TTTG c.2325_2326insTTG p.A775_G776insL InFrameInsertion 20/27 - 1
17-37880986-A-ACGTGATGGCTGC c.2326_2327insCCGTGATGGCTG p.A775_G776insAVMA InFrameInsertion 20/27 - 1
17-37880995-C-CTGTAGCAGG c.2326_2327insTAGCAGGTG p.A775_G776insVAG InFrameInsertion 20/27 - 1
17-37880996-T-TGCAGTAATGGCA c.2326_2327insCAGTAATGGCAG p.A775_G776insAVMA InFrameInsertion 20/27 - 1
17-37880997-G-A c.2326G>A p.G776S Missense 20/27 - 21
17-37880997-G-ATCT c.2326delinsATCT p.G776delinsIC MultiAAMissense 20/27 - 1
17-37880997-G-C c.2326G>C p.G776R Missense 20/27 - 3
17-37880997-G-CTTT c.2326delinsCTTT p.G776delinsLC MultiAAMissense 20/27 - 2
17-37880997-G-GCAGTAGGTT c.2326_2327insCAGTAGGTT p.G776delinsAVGC MultiAAMissense 20/27 - 2
17-37880997-GG-CT c.2326_2327delinsCT p.G776L Missense 20/27 - 15
17-37880997-G-GTAT c.2326_2327insTAT p.G776delinsVC MultiAAMissense 20/27 - 24
17-37880997-G-GTCT c.2326_2327insTCT p.G776delinsVC MultiAAMissense 20/27 - 1
17-37880997-G-GTGT c.2326_2327insTGT p.G776delinsVC MultiAAMissense 20/27 - 19
17-37880997-GGTGTG-TATGTAATGGCAGGTGGT c.2326_2331delinsTATGTAATGGCAGGTGGT p.G776_V777delinsYVMAGG MultiAAMissense 20/27 - 1
17-37880997-GGT-TGA c.2326_2328delinsTGA p.G776* Nonsense 20/27 - 1
17-37880997-GGT-TGTGTA c.2326_2328delinsTGTGTA p.G776delinsCV MultiAAMissense 20/27 - 1
17-37880997-G-GTTT c.2326_2327insTTT p.G776delinsVC MultiAAMissense 20/27 - 7
17-37880997-G-T c.2326G>T p.G776C Missense 20/27 - 17
17-37880997-G-TTAT c.2326delinsTTAT p.G776delinsLC MultiAAMissense 20/27 - 1
17-37880997-G-TTGT c.2326delinsTTGT p.G776delinsLC MultiAAMissense 20/27 - 2
17-37880998-GT-TAGTA c.2327_2328delinsTAGTA p.G776delinsVV MultiAAMissense 20/27 - 4
17-37880995-CTGG-C c.2327_2329del p.G776del InFrameDeletion 20/27 - 6
17-37880998-G-A c.2327G>A p.G776D Missense 20/27 - 2
17-37880998-G-C c.2327G>C p.G776A Missense 20/27 - 2
17-37880998-G-T c.2327G>T p.G776V Missense 20/27 - 38
17-37880997-G-GGTT c.2328_2329insTGT p.G776_V777insC InFrameInsertion 20/27 - 1
17-37880999-T-C c.2328T>C p.G776= Synonymous 20/27 - 1
17-37881000-G-A c.2329G>A p.V777M Missense 20/27 - 15
17-37881000-G-C c.2329G>C p.V777L Missense 20/27 - 92
17-37881000-G-T c.2329G>T p.V777L Missense 20/27 - 176
17-37881000-GTG-TGTGTATGT c.2329_2331delinsTGTGTATGT p.V777delinsCVC MultiAAMissense 20/27 - 1
17-37881001-T-A c.2330T>A p.V777E Missense 20/27 - 1
17-37881001-T-C c.2330T>C p.V777A Missense 20/27 - 9
17-37881002-G-GTGTGGT c.2331_2332insTGTGGT p.V777_G778insCG InFrameInsertion 20/27 - 1
17-37881001-T-TGGC c.2332_2333insCGG p.V777_G778insA InFrameInsertion 20/27 - 1
17-37881002-G-GGGCTCCCCA c.2332_2340dup p.G778_P780dup InFrameInsertion 20/27 - 1
17-37881003-G-A c.2332G>A p.G778S Missense 20/27 - 1
17-37881003-G-T c.2332G>T p.G778C Missense 20/27 - 1
17-37881002-G-GGGTAGCCCT c.2333_2334insTAGCCCTGG p.G778_P780dup InFrameInsertion 20/27 - 2
17-37881003-G-GGGCTCCCCA c.2333_2334insGCTCCCCAG p.G778_S779insLPS InFrameInsertion 20/27 - 1
17-37881004-G-A c.2333G>A p.G778D Missense 20/27 - 1
17-37881003-G-GGCCTTCCTA c.2334_2335insCTTCCTAGC p.G778_S779insLPS InFrameInsertion 20/27 - 1
17-37881005-C-CGGT c.2334_2335insGGT p.G778dup InFrameInsertion 20/27 - 1
17-37881005-C-CTGTCCTGGT c.2335_2336insGTCCTGGTT p.G778_S779insCPG InFrameInsertion 20/27 - 1
17-37881006-T-G c.2335T>G p.S779A Missense 20/27 - 1
17-37881007-C-G c.2336C>G p.S779C Missense 20/27 - 1
17-37881007-C-T c.2336C>T p.S779F Missense 20/27 - 3
17-37881007-C-CCGTAGGTAG c.2337_2338insGTAGGTAGC p.V777_S779dup InFrameInsertion 20/27 - 1
17-37881008-C-T c.2337C>T p.S779= Synonymous 20/27 - 1
17-37881009-C-T c.2338C>T p.P780S Missense 20/27 - 3
17-37881002-G-GGGCTCCCCC c.2339_2340insCGGCTCCCC p.G778_P780dup InFrameInsertion 20/27 - 1
17-37881002-G-GGGCTCCCCT c.2339_2340insTGGCTCCCC p.G778_P780dup InFrameInsertion 20/27 - 1
17-37881006-TC-T c.2339del p.P780Hfs*11 Frameshift 20/27 - 1
17-37881010-C-CGGCTCCCCA c.2339_2340insGGCTCCCCA p.P780_Y781insAPQ InFrameInsertion 20/27 - 1
17-37881010-C-T c.2339C>T p.P780L Missense 20/27 - 3
17-37881011-A-AGGTAGCCCT c.2340_2341insGGTAGCCCT p.G778_P780dup InFrameInsertion 20/27 - 9
17-37881012-T-C c.2341T>C p.Y781H Missense 20/27 - 1
17-37881013-A-G c.2342A>G p.Y781C Missense 20/27 - 2
17-37881016-T-C c.2345T>C p.V782A Missense 20/27 - 1
17-37881016-T-TCCACAAAGA c.2346_2347insCACAAAGAC p.V782_S783insHKD InFrameInsertion 20/27 - 1
17-37881018-T-C c.2347T>C p.S783P Missense 20/27 - 2
17-37881019-C-T c.2348C>T p.S783F Missense 20/27 - 1
17-37881021-C-G c.2350C>G p.R784G Missense 20/27 - 1
17-37881021-C-T c.2350C>T p.R784C Missense 20/27 - 7
17-37881022-G-A c.2351G>A p.R784H Missense 20/27 - 4
17-37881024-C-T c.2353C>T p.L785F Missense 20/27 - 7
17-37881025-T-C c.2354T>C p.L785P Missense 20/27 - 1
17-37881025-T-G c.2354T>G p.L785R Missense 20/27 - 4
17-37881027-C-G c.2356C>G p.L786V Missense 20/27 - 3
17-37881030-G-C c.2359G>C p.G787R Missense 20/27 - 1
17-37881033-A-G c.2362A>G p.I788V Missense 20/27 - 1
17-37881036-T-C c.2365T>C p.C789R Missense 20/27 - 1
17-37881040-T-C c.2369T>C p.L790P Missense 20/27 - 1
17-37881043-C-T c.2372C>T p.T791I Missense 20/27 - 2
17-37881044-A-G c.2373A>G p.T791= Synonymous 20/27 - 1
17-37881045-T-C c.2374T>C p.S792P Missense 20/27 - 1
17-37881046-C-T c.2375C>T p.S792F Missense 20/27 - 1
17-37881048-A-G c.2377A>G p.T793A Missense 20/27 - 1
17-37881049-C-T c.2378C>T p.T793M Missense 20/27 - 1
17-37881050-G-C c.2379G>C p.T793= Synonymous 20/27 - 1
17-37881051-G-A c.2380G>A p.V794M Missense 20/27 - 2
17-37881055-A-G c.2384A>G p.Q795R Missense 20/27 - 3
17-37881057-CTGG-C c.2389_2391del p.V797del InFrameDeletion 20/27 - 1
17-37881060-G-A c.2389G>A p.V797M Missense 20/27 - 1
17-37881061-T-C c.2390T>C p.V797A Missense 20/27 - 2
17-37881062-G-GCACAAAGAC c.2391_2392insCACAAAGAC p.V797_T798insHKD InFrameInsertion 20/27 - 1
17-37881064-CA-TG c.2393_2394inv p.T798M Missense 20/27 - 38
17-37881064-C-T c.2393C>T p.T798I Missense 20/27 - 41
17-37881065-A-G c.2394A>G p.T798= Synonymous 20/27 - 1
17-37881066-C-G c.2395C>G p.Q799E Missense 20/27 - 2
17-37881068-G-C c.2397G>C p.Q799H Missense 20/27 - 1
17-37881068-G-T c.2397G>T p.Q799H Missense 20/27 - 1
17-37881069-C-T c.2398C>T p.L800F Missense 20/27 - 1
17-37881070-T-C c.2399T>C p.L800P Missense 20/27 - 1
17-37881070-T-G c.2399T>G p.L800R Missense 20/27 - 2
17-37881075-C-T c.2404C>T p.P802S Missense 20/27 - 1
17-37881078-T-C c.2407T>C p.Y803H Missense 20/27 - 2
17-37881079-A-G c.2408A>G p.Y803C Missense 20/27 - 2
17-37881079-AT-TC c.2408_2409delinsTC p.Y803F Missense 20/27 - 1
17-37881081-G-A c.2410G>A p.G804S Missense 20/27 - 1
17-37881084-T-A c.2413T>A p.C805S Missense 20/27 - 12
17-37881084-T-G c.2413T>G p.C805G Missense 20/27 - 1
17-37881084-TG-GC c.2413_2414delinsGC p.C805A Missense 20/27 - 1
17-37881085-G-C c.2414G>C p.C805S Missense 20/27 - 12
17-37881090-T-A c.2419T>A p.L807I Missense 20/27 - 1
17-37881093-G-A c.2422G>A p.D808N Missense 20/27 - 2
17-37881093-G-C c.2422G>C p.D808H Missense 20/27 - 1
17-37881095-C-A c.2424C>A p.D808E Missense 20/27 - 1
17-37881095-C-G c.2424C>G p.D808E Missense 20/27 - 1
17-37881102-C-T c.2431C>T p.R811W Missense 20/27 - 2
17-37881103-G-A c.2432G>A p.R811Q Missense 20/27 - 2
17-37881105-G-A c.2434G>A p.E812K Missense 20/27 - 2
17-37881107-A-ACACAAAGAC c.2436_2437insCACAAAGAC p.E812_N813insHKD InFrameInsertion 20/27 - 1
17-37881108-A-G c.2437A>G p.N813D Missense 20/27 - 5
17-37881111-C-T c.2440C>T p.R814C Missense 20/27 - 2
17-37881112-G-A c.2441G>A p.R814H Missense 20/27 - 2
17-37881113-C-A c.2442C>A p.R814= Synonymous 20/27 - 1
17-37881113-C-G c.2442C>G p.R814= Synonymous 20/27 - 1
17-37881113-C-T c.2442C>T p.R814= Synonymous 20/27 - 1
17-37881114-G-A c.2443G>A p.G815R Missense 20/27 - 7
17-37881114-G-C c.2443G>C p.G815R Missense 20/27 - 2
17-37881115-G-C c.2444G>C p.G815A Missense 20/27 - 1
17-37881117-C-T c.2446C>T p.R816C Missense 20/27 - 4
17-37881118-G-A c.2447G>A p.R816H Missense 20/27 - 2
17-37881120-C-T c.2449C>T p.L817= Synonymous 20/27 - 1
17-37881122-G-A c.2451G>A p.L817= Synonymous 20/27 - 1
17-37881122-G-C c.2451G>C p.L817= Synonymous 20/27 - 1
17-37881122-G-T c.2451G>T p.L817= Synonymous 20/27 - 1
17-37881123-GG-AC c.2452_2453delinsAC p.G818T Missense 20/27 - 1
17-37881124-G-C c.2453G>C p.G818A Missense 20/27 - 1
17-37881127-C-T c.2456C>T p.S819F Missense 20/27 - 1
17-37881132-G-A c.2461G>A p.D821N Missense 20/27 - 1
17-37881143-C-T c.2472C>T p.N824= Synonymous 20/27 - 1
17-37881145-G-A c.2474G>A p.W825* Nonsense 20/27 - 1
17-37881146-G-A c.2475G>A p.W825* Nonsense 20/27 - 1
17-37881152-TG-T c.2481del p.M827Ifs*7 Frameshift 20/27 - 1
17-37881155-G-C c.2484G>C p.Q828H Missense 20/27 - 1
17-37881160-C-T c.2489C>T p.A830V Missense 20/27 - 1
17-37881161-C-A c.2490C>A p.A830= Synonymous 20/27 - 1
17-37881161-C-G c.2490C>G p.A830= Synonymous 20/27 - 1
17-37881161-C-T c.2490C>T p.A830= Synonymous 20/27 - 1
17-37881161-C-CA c.2492dup p.M833Dfs*41 SpliceDonorInsertion 20/27 - 1
17-37881306-T-C c.2498T>C p.M833T Missense 21/27 - 2
17-37881307-G-A c.2499G>A p.M833I Missense 21/27 - 2
17-37881307-G-C c.2499G>C p.M833I Missense 21/27 - 1
17-37881307-G-T c.2499G>T p.M833I Missense 21/27 - 1
17-37881309-G-A c.2501G>A p.S834N Missense 21/27 - 1
17-37881310-GC-G c.2502del p.Y835Tfs*76 Frameshift 21/27 - 1
17-37881312-A-T c.2504A>T p.Y835F Missense 21/27 - 6
17-37881314-C-T c.2506C>T p.L836= Synonymous 21/27 - 1
17-37881315-T-G c.2507T>G p.L836R Missense 21/27 - 1
17-37881323-G-A c.2515G>A p.V839M Missense 21/27 - 4
17-37881326-C-T c.2518C>T p.R840W Missense 21/27 - 1
17-37881327-G-A c.2519G>A p.R840Q Missense 21/27 - 1
17-37881329-C-G c.2521C>G p.L841V Missense 21/27 - 6
17-37881329-C-T c.2521C>T p.L841F Missense 21/27 - 1
17-37881331-C-T c.2523C>T p.L841= Synonymous 21/27 - 1
17-37881332-G-A c.2524G>A p.V842I Missense 21/27 - 133
17-37881332-G-C c.2524G>C p.V842L Missense 21/27 - 2
17-37881332-G-T c.2524G>T p.V842L Missense 21/27 - 2
17-37881332-GTA-ATG c.2524_2526delinsATG p.V842M Missense 21/27 - 1
17-37881333-T-A c.2525T>A p.V842E Missense 21/27 - 1
17-37881336-A-G c.2528A>G p.H843R Missense 21/27 - 1
17-37881338-AGG-CAT c.2530_2532delinsCAT p.R844H Missense 21/27 - 2
17-37881338-AGG-TGT c.2530_2532delinsTGT p.R844C Missense 21/27 - 3
17-37881339-G-A c.2531G>A p.R844K Missense 21/27 - 1
17-37881338-A-C c.2530A>C p.R844= Synonymous 21/27 - 1
17-37881340-G-A c.2532G>A p.R844= Synonymous 21/27 - 1
17-37881341-G-A c.2533G>A p.D845N Missense 21/27 - 2
17-37881342-A-C c.2534A>C p.D845A Missense 21/27 - 6
17-37881344-T-C c.2536T>C p.L846= Synonymous 21/27 - 1
17-37881350-G-A c.2542G>A p.A848T Missense 21/27 - 2
17-37881352-T-C c.2544T>C p.A848= Synonymous 21/27 - 1
17-37881353-C-T c.2545C>T p.R849W Missense 21/27 - 2
17-37881354-G-A c.2546G>A p.R849Q Missense 21/27 - 4
17-37881354-G-T c.2546G>T p.R849L Missense 21/27 - 1
17-37881355-G-T c.2547G>T p.R849= Synonymous 21/27 - 1
17-37881357-A-G c.2549A>G p.N850S Missense 21/27 - 2
17-37881358-C-A c.2550C>A p.N850K Missense 21/27 - 1
17-37881358-C-G c.2550C>G p.N850K Missense 21/27 - 1
17-37881359-G-A c.2551G>A p.V851M Missense 21/27 - 2
17-37881368-A-T c.2560A>T p.K854* Nonsense 21/27 - 1
17-37881369-A-G c.2561A>G p.K854R Missense 21/27 - 1
17-37881372-G-T c.2564G>T p.S855I Missense 21/27 - 2
17-37881371-A-C c.2563A>C p.S855R Missense 21/27 - 1
17-37881373-T-A c.2565T>A p.S855R Missense 21/27 - 1
17-37881373-T-G c.2565T>G p.S855R Missense 21/27 - 1
17-37881375-C-T c.2567C>T p.P856L Missense 21/27 - 2
17-37881378-A-G c.2570A>G p.N857S Missense 21/27 - 5
17-37881382-T-C c.2574T>C p.H858= Synonymous 21/27 - 1
17-37881384-T-A c.2576T>A p.V859D Missense 21/27 - 1
17-37881386-A-G c.2578A>G p.K860E Missense 21/27 - 1
17-37881388-A-G c.2580A>G p.K860= Synonymous 21/27 - 3
17-37881390-T-A c.2582T>A p.I861N Missense 21/27 - 1
17-37881390-T-G c.2582T>G p.I861S Missense 21/27 - 1
17-37881392-A-G c.2584A>G p.T862A Missense 21/27 - 34
17-37881392-A-T c.2584A>T p.T862S Missense 21/27 - 1
17-37881393-C-G c.2585C>G p.T862R Missense 21/27 - 1
17-37881393-C-T c.2585C>T p.T862I Missense 21/27 - 1
17-37881395-G-A c.2587G>A p.D863N Missense 21/27 - 1
17-37881399-T-C c.2591T>C p.F864S Missense 21/27 - 1
17-37881401-G-A c.2593G>A p.G865R Missense 21/27 - 1
17-37881401-G-C c.2593G>C p.G865R Missense 21/27 - 1
17-37881401-GGG-AGC c.2593_2595delinsAGC p.G865S Missense 21/27 - 1
17-37881404-C-A c.2596C>A p.L866M Missense 21/27 - 14
17-37881404-CTG-TTT c.2596_2598delinsTTT p.L866F Missense 21/27 - 1
17-37881405-T-C c.2597T>C p.L866P Missense 21/27 - 1
17-37881410-C-T c.2602C>T p.R868W Missense 21/27 - 4
17-37881414-T-A c.2606T>A p.L869Q Missense 21/27 - 4
17-37881414-T-G c.2606T>G p.L869R Missense 21/27 - 48
17-37881424-T-C c.2616T>C p.I872= Synonymous 21/27 - 1
17-37881425-G-A c.2617G>A p.D873N Missense 21/27 - 2
17-37881425-G-C c.2617G>C p.D873H Missense 21/27 - 1
17-37881426-A-G c.2618A>G p.D873G Missense 21/27 - 3
17-37881428-G-A c.2620G>A p.E874K Missense 21/27 - 5
17-37881431-ACA-TAT c.2623_2625delinsTAT p.T875Y Missense 21/27 - 2
17-37881432-C-T c.2624C>T p.T875I Missense 21/27 - 2
17-37881433-A-G c.2625A>G p.T875= Synonymous 21/27 - 1
17-37881438-A-G c.2630A>G p.Y877C Missense 21/27 - 1
17-37881438-A-T c.2630A>T p.Y877F Missense 21/27 - 1
17-37881440-C-T c.2632C>T p.H878Y Missense 21/27 - 20
17-37881441-A-G c.2633A>G p.H878R Missense 21/27 - 1
17-37881443-GCA-TGT c.2635_2637delinsTGT p.A879C Missense 21/27 - 1
17-37881445-A-G c.2637A>G p.A879= Synonymous 21/27 - 1
17-37881446-G-A c.2638G>A p.D880N Missense 21/27 - 1
17-37881446-G-C c.2638G>C p.D880H Missense 21/27 - 2
17-37881446-G-T c.2638G>T p.D880Y Missense 21/27 - 1
17-37881447-A-G c.2639A>G p.D880G Missense 21/27 - 1
17-37881452-G-A c.2644G>A p.G882S Missense 21/27 - 1
17-37881565-C-G c.2650-15C>G - IntronicSNV - 21/26 1
17-37881583-C-G c.2653C>G p.P885A Missense 22/27 - 1
17-37881583-C-T c.2653C>T p.P885S Missense 22/27 - 1
17-37881596-T-C c.2666T>C p.M889T Missense 22/27 - 1
17-37881597-G-A c.2667G>A p.M889I Missense 22/27 - 1
17-37881597-G-C c.2667G>C p.M889I Missense 22/27 - 1
17-37881597-G-T c.2667G>T p.M889I Missense 22/27 - 1
17-37881598-G-T c.2668G>T p.A890S Missense 22/27 - 1
17-37881602-T-C c.2672T>C p.L891P Missense 22/27 - 1
17-37881608-C-A c.2678C>A p.S893Y Missense 22/27 - 1
17-37881610-A-G c.2680A>G p.I894V Missense 22/27 - 1
17-37881615-TCC-T c.2685_2686del p.R896Pfs*8 Frameshift 22/27 - 1
17-37881616-C-G c.2686C>G p.R896G Missense 22/27 - 6
17-37881616-C-T c.2686C>T p.R896C Missense 22/27 - 29
17-37881617-G-A c.2687G>A p.R896H Missense 22/27 - 4
17-37881617-GC-AA c.2687_2688delinsAA p.R896Q Missense 22/27 - 2
17-37881619-C-G c.2689C>G p.R897G Missense 22/27 - 4
17-37881619-CG-TA c.2689_2690delinsTA p.R897* Nonsense 22/27 - 1
17-37881619-C-T c.2689C>T p.R897W Missense 22/27 - 3
17-37881620-G-A c.2690G>A p.R897Q Missense 22/27 - 5
17-37881622-C-G c.2692C>G p.R898G Missense 22/27 - 1
17-37881622-CG-GC c.2692_2693delinsGC p.R898A Missense 22/27 - 1
17-37881625-T-A c.2695T>A p.F899I Missense 22/27 - 1
17-37881628-A-C c.2698A>C p.T900P Missense 22/27 - 1
17-37881628-A-T c.2698A>T p.T900S Missense 22/27 - 1
17-37881629-CC-TG c.2699_2700delinsTG p.T900M Missense 22/27 - 1
17-37881629-C-G c.2699C>G p.T900S Missense 22/27 - 1
17-37881631-C-T c.2701C>T p.H901Y Missense 22/27 - 1
17-37881634-C-A c.2704C>A p.Q902K Missense 22/27 - 1
17-37881635-A-G c.2705A>G p.Q902R Missense 22/27 - 1
17-37881638-G-C c.2708G>C p.S903T Missense 22/27 - 1
17-37881637-A-C c.2707A>C p.S903R Missense 22/27 - 1
17-37881639-T-A c.2709T>A p.S903R Missense 22/27 - 1
17-37881639-T-G c.2709T>G p.S903R Missense 22/27 - 1
17-37881641-A-T c.2711A>T p.D904V Missense 22/27 - 2
17-37881646-T-A c.2716T>A p.W906R Missense 22/27 - 1
17-37881646-T-C c.2716T>C p.W906R Missense 22/27 - 1
17-37881646-T-G c.2716T>G p.W906G Missense 22/27 - 1
17-37881647-G-A c.2717G>A p.W906* Nonsense 22/27 - 1
17-37881648-G-A c.2718G>A p.W906* Nonsense 22/27 - 1
17-37881653-A-AT c.2724dup p.G909Wfs*25 SpliceDonorInsertion 22/27 - 1
17-37881654-T-TA c.2724_2725insA p.G909Rfs*25 SpliceDonorInsertion 22/27 - 1
17-37881654-T-TC c.2724_2725insC p.G909Rfs*25 SpliceDonorInsertion 22/27 - 1
17-37881655-G-A c.2725G>A p.G909S Missense 22/27 - 1
17-37881972-G-A c.2738G>A p.W913* Nonsense 23/27 - 1
17-37881973-G-A c.2739G>A p.W913* Nonsense 23/27 - 1
17-37881974-G-A c.2740G>A p.E914K Missense 23/27 - 2
17-37881982-G-A c.2748G>A p.M916I Missense 23/27 - 1
17-37881999-C-G c.2765C>G p.P922R Missense 23/27 - 1
17-37882004-G-A c.2770G>A p.D924N Missense 23/27 - 1
17-37882014-C-G c.2780C>G p.P927R Missense 23/27 - 1
17-37882019-C-T c.2785C>T p.R929W Missense 23/27 - 2
17-37882020-G-A c.2786G>A p.R929Q Missense 23/27 - 2
17-37882022-G-A c.2788G>A p.E930K Missense 23/27 - 1
17-37882024-G-C c.2790G>C p.E930D Missense 23/27 - 4
17-37882024-G-T c.2790G>T p.E930D Missense 23/27 - 5
17-37882026-T-A c.2792T>A p.I931N Missense 23/27 - 1
17-37882040-GA-G c.2810del p.K937Rfs*17 Frameshift 23/27 - 1
17-37882044-A-G c.2810A>G p.K937R Missense 23/27 - 3
17-37882050-A-G c.2816A>G p.E939G Missense 23/27 - 1
17-37882058-CCC-TAA c.2824_2826delinsTAA p.P942* Nonsense 23/27 - 1
17-37882061-C-T c.2827C>T p.Q943* Nonsense 23/27 - 1
17-37882067-C-T c.2833C>T p.P945S Missense 23/27 - 1
17-37882071-T-A c.2837T>A p.I946N Missense 23/27 - 1
17-37882071-T-G c.2837T>G p.I946S Missense 23/27 - 1
17-37882078-C-T c.2844C>T p.T948= Synonymous 23/27 - 1
17-37882080-T-A c.2846T>A p.I949N Missense 23/27 - 1
17-37882080-T-C c.2846T>C p.I949T Missense 23/27 - 2
17-37882091-A-C c.2857A>C p.M953L Missense 23/27 - 1
17-37882091-A-T c.2857A>T p.M953L Missense 23/27 - 1
17-37882093-G-A c.2859G>A p.M953I Missense 23/27 - 2
17-37882098-T-G c.2864T>G p.M955R Missense 23/27 - 1
17-37882100-GT-CG c.2866_2867delinsCG p.V956R Missense 23/27 - 4
17-37882115-C-G c.2872+9C>G - IntronicSNV - 23/26 1
17-37882185-G-T c.2872+79G>T - IntronicSNV - 23/26 1
17-37882820-A-G c.2878A>G p.M960V Missense 24/27 - 1
17-37882824-T-A c.2882T>A p.I961N Missense 24/27 - 1
17-37882824-T-C c.2882T>C p.I961T Missense 24/27 - 2
17-37882827-A-G c.2885A>G p.D962G Missense 24/27 - 1
17-37882838-CGG-TGT c.2896_2898delinsTGT p.R966C Missense 24/27 - 1
17-37882839-G-A c.2897G>A p.R966Q Missense 24/27 - 1
17-37882844-AGA-CAT c.2902_2904delinsCAT p.R968H Missense 24/27 - 1
17-37882850-C-T c.2908C>T p.R970W Missense 24/27 - 3
17-37882851-G-A c.2909G>A p.R970Q Missense 24/27 - 2
17-37882856-TTG-CAT c.2914_2916delinsCAT p.L972H Missense 24/27 - 1
17-37882857-T-C c.2915T>C p.L972S Missense 24/27 - 1
17-37882865-TG-T c.2923del p.E975Nfs*85 Frameshift 24/27 - 1
17-37882868-T-C c.2926T>C p.F976L Missense 24/27 - 1
17-37882870-C-A c.2928C>A p.F976L Missense 24/27 - 1
17-37882870-C-G c.2928C>G p.F976L Missense 24/27 - 1
17-37882871-T-A c.2929T>A p.S977T Missense 24/27 - 1
17-37882874-C-A c.2932C>A p.R978S Missense 24/27 - 1
17-37882874-C-T c.2932C>T p.R978C Missense 24/27 - 2
17-37882875-G-A c.2933G>A p.R978H Missense 24/27 - 1
17-37882894-G-C c.2952G>C p.Q984H Missense 24/27 - 1
17-37882895-C-T c.2953C>T p.R985C Missense 24/27 - 3
17-37882896-G-A c.2954G>A p.R985H Missense 24/27 - 1
17-37882899-T-G c.2957T>G p.F986C Missense 24/27 - 1
17-37882901-GT-CC c.2959_2960delinsCC p.V987P Missense 24/27 - 1
17-37882904-G-T c.2962G>T p.V988F Missense 24/27 - 1
17-37882905-T-C c.2963T>C p.V988A Missense 24/27 - 1
17-37882908-T-C c.2966T>C p.I989T Missense 24/27 - 1
17-37882909-C-G c.2967C>G p.I989M Missense 24/27 - 1
17-37882910-C-T c.2968C>T p.Q990* Nonsense 24/27 - 1
17-37883068-A-G c.2971A>G p.N991D Missense 25/27 - 1
17-37883071-G-A c.2974G>A p.E992K Missense 25/27 - 1
17-37883077-T-A c.2980T>A p.L994M Missense 25/27 - 1
17-37883077-T-G c.2980T>G p.L994V Missense 25/27 - 1
17-37883078-T-TG c.2984dup p.A997Sfs*17 Frameshift 25/27 - 1
17-37883083-C-T c.2986C>T p.P996S Missense 25/27 - 1
17-37883090-G-C c.2993G>C p.S998T Missense 25/27 - 1
17-37883090-G-T c.2993G>T p.S998I Missense 25/27 - 1
17-37883091-TC-AT c.2994_2995delinsAT p.S998_P999delinsRS MultiAAMissense 25/27 - 1
17-37883098-G-T c.3001G>T p.D1001Y Missense 25/27 - 1
17-37883100-C-A c.3003C>A p.D1001E Missense 25/27 - 1
17-37883100-C-G c.3003C>G p.D1001E Missense 25/27 - 1
17-37883102-G-A c.3005G>A p.S1002N Missense 25/27 - 1
17-37883113-C-T c.3016C>T p.R1006C Missense 25/27 - 1
17-37883114-G-A c.3017G>A p.R1006H Missense 25/27 - 2
17-37883116-T-A c.3019T>A p.S1007T Missense 25/27 - 1
17-37883119-C-G c.3022C>G p.L1008V Missense 25/27 - 1
17-37883122-C-A c.3025C>A p.L1009M Missense 25/27 - 1
17-37883122-C-T c.3025C>T p.L1009= Synonymous 25/27 - 1
17-37883129-A-G c.3032A>G p.D1011G Missense 25/27 - 1
17-37883130-C-T c.3033C>T p.D1011= Synonymous 25/27 - 1
17-37883131-G-A c.3034G>A p.D1012N Missense 25/27 - 1
17-37883132-A-AT c.3036dup p.D1013* Nonsense 25/27 - 1
17-37883141-G-A c.3044G>A p.G1015E Missense 25/27 - 1
17-37883143-G-T c.3046G>T p.D1016Y Missense 25/27 - 1
17-37883145-C-A c.3048C>A p.D1016E Missense 25/27 - 1
17-37883145-C-G c.3048C>G p.D1016E Missense 25/27 - 1
17-37883156-C-G c.3059C>G p.A1020G Missense 25/27 - 1
17-37883158-G-A c.3061G>A p.E1021K Missense 25/27 - 5
17-37883158-G-C c.3061G>C p.E1021Q Missense 25/27 - 4
17-37883159-A-C c.3062A>C p.E1021A Missense 25/27 - 1
17-37883159-A-G c.3062A>G p.E1021G Missense 25/27 - 2
17-37883165-A-T c.3068A>T p.Y1023F Missense 25/27 - 2
17-37883174-C-A c.3077C>A p.P1026H Missense 25/27 - 1
17-37883174-C-T c.3077C>T p.P1026L Missense 25/27 - 1
17-37883182-GGC-TGA c.3085_3087delinsTGA p.G1029* Nonsense 25/27 - 1
17-37883186-T-G c.3089T>G p.F1030C Missense 25/27 - 1
17-37883191-T-A c.3094T>A p.C1032S Missense 25/27 - 1
17-37883201-C-T c.3104C>T p.P1035L Missense 25/27 - 2
17-37883206-C-T c.3109C>T p.P1037S Missense 25/27 - 1
17-37883207-C-T c.3110C>T p.P1037L Missense 25/27 - 1
17-37883212-G-A c.3115G>A p.A1039T Missense 25/27 - 1
17-37883218-G-A c.3121G>A p.G1041S Missense 25/27 - 1
17-37883219-G-A c.3122G>A p.G1041D Missense 25/27 - 1
17-37883222-T-G c.3125T>G p.M1042R Missense 25/27 - 1
17-37883228-A-G c.3131A>G p.H1044R Missense 25/27 - 1
17-37883236-CAC-AAG c.3139_3141delinsAAG p.H1047K Missense 25/27 - 2
17-37883236-CA-GC c.3139_3140delinsGC p.H1047A Missense 25/27 - 1
17-37883236-C-T c.3139C>T p.H1047Y Missense 25/27 - 4
17-37883237-A-G c.3140A>G p.H1047R Missense 25/27 - 78
17-37883237-A-T c.3140A>T p.H1047L Missense 25/27 - 16
17-37883239-C-T c.3142C>T p.R1048C Missense 25/27 - 2
17-37883242-AGC-TGA c.3145_3147delinsTGA p.S1049* Nonsense 25/27 - 1
17-37883246-C-A c.3149C>A p.S1050* Nonsense 25/27 - 1
17-37883246-C-G c.3149C>G p.S1050* Nonsense 25/27 - 1
17-37883246-C-T c.3149C>T p.S1050L Missense 25/27 - 7
17-37883249-CT-AA c.3152_3153delinsAA p.S1051* Nonsense 25/27 - 1
17-37883251-ACC-TAA c.3154_3156delinsTAA p.T1052* Nonsense 25/27 - 1
17-37883554-G-A c.3166G>A p.G1056S Missense 26/27 - 4
17-37883555-G-A c.3167G>A p.G1056D Missense 26/27 - 2
17-37883556-T-A c.3168T>A p.G1056= Synonymous 26/27 - 1
17-37883556-T-C c.3168T>C p.G1056= Synonymous 26/27 - 1
17-37883556-T-G c.3168T>G p.G1056= Synonymous 26/27 - 1
17-37883558-G-T c.3170G>T p.G1057V Missense 26/27 - 1
17-37883561-A-C c.3173A>C p.D1058A Missense 26/27 - 1
17-37883561-A-G c.3173A>G p.D1058G Missense 26/27 - 1
17-37883566-AC-TA c.3178_3179delinsTA p.T1060* Nonsense 26/27 - 1
17-37883570-T-C c.3182T>C p.L1061P Missense 26/27 - 2
17-37883587-G-C c.3199G>C p.E1067Q Missense 26/27 - 1
17-37883587-G-T c.3199G>T p.E1067* Nonsense 26/27 - 1
17-37883588-A-C c.3200A>C p.E1067A Missense 26/27 - 1
17-37883586-TGAA-T c.3201_3203del p.E1069del InFrameDeletion 26/27 - 1
17-37883591-A-C c.3203A>C p.E1068A Missense 26/27 - 1
17-37883593-G-A c.3205G>A p.E1069K Missense 26/27 - 1
17-37883596-G-A c.3208G>A p.A1070T Missense 26/27 - 1
17-37883603-G-T c.3215G>T p.R1072M Missense 26/27 - 1
17-37883608-C-T c.3220C>T p.P1074S Missense 26/27 - 3
17-37883609-C-T c.3221C>T p.P1074L Missense 26/27 - 1
17-37883614-G-A c.3226G>A p.A1076T Missense 26/27 - 1
17-37883615-C-T c.3227C>T p.A1076V Missense 26/27 - 1
17-37883621-CC-AA c.3233_3234delinsAA p.S1078* Nonsense 26/27 - 1
17-37883623-G-A c.3235G>A p.E1079K Missense 26/27 - 3
17-37883624-A-G c.3236A>G p.E1079G Missense 26/27 - 1
17-37883626-G-A c.3238G>A p.G1080R Missense 26/27 - 1
17-37883633-G-C c.3245G>C p.G1082A Missense 26/27 - 1
17-37883636-C-A c.3248C>A p.S1083Y Missense 26/27 - 1
17-37883636-CC-AA c.3248_3249delinsAA p.S1083* Nonsense 26/27 - 1
17-37883638-G-T c.3250G>T p.D1084Y Missense 26/27 - 2
17-37883641-G-A c.3253G>A p.V1085I Missense 26/27 - 1
17-37883641-G-C c.3253G>C p.V1085L Missense 26/27 - 1
17-37883641-G-T c.3253G>T p.V1085L Missense 26/27 - 1
17-37883649-T-A c.3261T>A p.D1087E Missense 26/27 - 1
17-37883649-T-G c.3261T>G p.D1087E Missense 26/27 - 1
17-37883650-G-A c.3262G>A p.G1088S Missense 26/27 - 1
17-37883657-T-A c.3269T>A p.L1090Q Missense 26/27 - 1
17-37883672-C-T c.3284C>T p.A1095V Missense 26/27 - 1
17-37883680-C-A c.3292C>A p.L1098M Missense 26/27 - 1
17-37883685-A-G c.3297A>G p.Q1099= Synonymous 26/27 - 1
17-37883686-AGC-TGA c.3298_3300delinsTGA p.S1100* Nonsense 26/27 - 1
17-37883695-A-C c.3307A>C p.T1103P Missense 26/27 - 1
17-37883695-AC-TA c.3307_3308delinsTA p.T1103* Nonsense 26/27 - 1
17-37883698-C-G c.3310C>G p.H1104D Missense 26/27 - 2
17-37883701-G-A c.3313G>A p.D1105N Missense 26/27 - 1
17-37883706-C-G c.3318C>G p.P1106= Synonymous 26/27 - 1
17-37883708-G-GCCAATATGTGAACCAGCCAGATGTTCGGCCCCAGCCCCCTTCGCCCCGAGAGGGCCCTCTGCCTGCTGC c.3322_3323insAATATGTGAACCAGCCAGATGTTCGGCCCCAGCCCCCTTCGCCCCGAGAGGGCCCTCTGCCTGCTGCCC p.S1107_P1108insQYVNQPDVRPQPPSPREGPLPAA InFrameInsertion 26/27 - 1
17-37883719-C-T c.3331C>T p.R1111W Missense 26/27 - 3
17-37883720-G-A c.3332G>A p.R1111Q Missense 26/27 - 3
17-37883720-G-C c.3332G>C p.R1111P Missense 26/27 - 1
17-37883732-A-G c.3344A>G p.D1115G Missense 26/27 - 1
17-37883732-A-T c.3344A>T p.D1115V Missense 26/27 - 1
17-37883733-C-A c.3345C>A p.D1115E Missense 26/27 - 1
17-37883733-C-G c.3345C>G p.D1115E Missense 26/27 - 1
17-37883738-C-T c.3350C>T p.T1117I Missense 26/27 - 1
17-37883746-CT-GA c.3358_3359delinsGA p.L1120E Missense 26/27 - 1
17-37883747-T-A c.3359T>A p.L1120Q Missense 26/27 - 1
17-37883754-T-A c.3366T>A p.S1122= Synonymous 26/27 - 1
17-37883754-T-C c.3366T>C p.S1122= Synonymous 26/27 - 1
17-37883754-T-G c.3366T>G p.S1122= Synonymous 26/27 - 1
17-37883755-G-GAATATGTGAACCAGCCAGATGTTCGGCCCCAGCCCCCTTCGCCCCGAGAGGGCCCTCTGCCTGCTGCCC c.3368_3369insATATGTGAACCAGCCAGATGTTCGGCCCCAGCCCCCTTCGCCCCGAGAGGGCCCTCTGCCTGCTGCCCA p.E1123_T1124insYVNQPDVRPQPPSPREGPLPAAQ InFrameInsertion 26/27 - 1
17-37883762-A-G c.3374A>G p.D1125G Missense 26/27 - 1
17-37883763-T-A c.3375T>A p.D1125E Missense 26/27 - 1
17-37883763-T-G c.3375T>G p.D1125E Missense 26/27 - 1
17-37883770-G-A c.3382G>A p.V1128I Missense 26/27 - 1
17-37883770-G-T c.3382G>T p.V1128F Missense 26/27 - 1
17-37883774-C-G c.3386C>G p.A1129G Missense 26/27 - 1
17-37883776-C-A c.3388C>A p.P1130T Missense 26/27 - 1
17-37883777-C-A c.3389C>A p.P1130H Missense 26/27 - 1
17-37883777-C-T c.3389C>T p.P1130L Missense 26/27 - 1
17-37883782-AC-TG c.3394_3395delinsTG p.T1132C Missense 26/27 - 1
17-37883783-C-T c.3395C>T p.T1132I Missense 26/27 - 1
17-37883786-G-A c.3398G>A p.C1133Y Missense 26/27 - 1
17-37883800-G-GAATATGTGAACCAGCCAGATGTTCGGCCCCAGCCCCCTTCGCCCCGAGAGGGCCCTCTGCCTGCTGCCC c.3412_3412+1insAATATGTGAACCAGCCAGATGTTCGGCCCCAGCCCCCTTCGCCCCGAGAGGGCCCTCTGCCTGCTGCCC p.A1160_R1161insQYVNQPDVRPQPPSPREGPLPAA SpliceDonorInsertion - - 1
17-37883945-A-T c.3416A>T p.Y1139F Missense 27/27 - 2
17-37883959-G-C c.3430G>C p.D1144H Missense 27/27 - 4
17-37883963-T-G c.3434T>G p.V1145G Missense 27/27 - 1
17-37883965-C-T c.3436C>T p.R1146W Missense 27/27 - 4
17-37883977-C-T c.3448C>T p.P1150S Missense 27/27 - 1
17-37883987-G-A c.3458G>A p.R1153Q Missense 27/27 - 4
17-37883987-G-C c.3458G>C p.R1153P Missense 27/27 - 1
17-37883992-G-T c.3463G>T p.G1155C Missense 27/27 - 1
17-37883999-T-G c.3470T>G p.L1157R Missense 27/27 - 1
17-37884011-G-A c.3482G>A p.R1161Q Missense 27/27 - 1
17-37884022-G-C c.3493G>C p.A1165P Missense 27/27 - 1
17-37884028-C-G c.3499C>G p.L1167V Missense 27/27 - 2
17-37884031-G-A c.3502G>A p.E1168K Missense 27/27 - 1
17-37884036-GGC-G c.3507_3508del p.R1169Sfs*107 Frameshift 27/27 - 1
17-37884037-C-G c.3508C>G p.P1170A Missense 27/27 - 75
17-37884043-AC-TG c.3514_3515delinsTG p.T1172C Missense 27/27 - 1
17-37884046-C-G c.3517C>G p.L1173V Missense 27/27 - 2
17-37884050-C-T c.3521C>T p.S1174F Missense 27/27 - 1
17-37884056-G-A c.3527G>A p.G1176E Missense 27/27 - 1
17-37884059-A-G c.3530A>G p.K1177R Missense 27/27 - 1
17-37884070-G-A c.3541G>A p.V1181I Missense 27/27 - 1
17-37884073-A-C c.3544A>C p.K1182Q Missense 27/27 - 1
17-37884079-G-A c.3550G>A p.V1184I Missense 27/27 - 1
17-37884085-G-A c.3556G>A p.A1186T Missense 27/27 - 1
17-37884088-T-C c.3559T>C p.F1187L Missense 27/27 - 1
17-37884090-T-A c.3561T>A p.F1187L Missense 27/27 - 1
17-37884090-T-G c.3561T>G p.F1187L Missense 27/27 - 1
17-37884091-G-T c.3562G>T p.G1188W Missense 27/27 - 1
17-37884093-G-A c.3564G>A p.G1188= Synonymous 27/27 - 1
17-37884093-G-C c.3564G>C p.G1188= Synonymous 27/27 - 1
17-37884093-G-T c.3564G>T p.G1188= Synonymous 27/27 - 1
17-37884097-G-A c.3568G>A p.A1190T Missense 27/27 - 1
17-37884113-A-G c.3584A>G p.E1195G Missense 27/27 - 1
17-37884122-C-G c.3593C>G p.T1198R Missense 27/27 - 1
17-37884125-C-T c.3596C>T p.P1199L Missense 27/27 - 1
17-37884131-G-T c.3602G>T p.G1201V Missense 27/27 - 2
17-37884133-G-A c.3604G>A p.G1202R Missense 27/27 - 3
17-37884133-G-C c.3604G>C p.G1202R Missense 27/27 - 3
17-37884133-GG-AA c.3604_3605delinsAA p.G1202K Missense 27/27 - 1
17-37884134-G-A c.3605G>A p.G1202E Missense 27/27 - 1
17-37884140-C-G c.3611C>G p.A1204G Missense 27/27 - 1
17-37884142-C-T c.3613C>T p.P1205S Missense 27/27 - 1
17-37884145-C-A c.3616C>A p.Q1206K Missense 27/27 - 2
17-37884145-C-T c.3616C>T p.Q1206* Nonsense 27/27 - 3
17-37884149-C-T c.3620C>T p.P1207L Missense 27/27 - 1
17-37884152-A-G c.3623A>G p.H1208R Missense 27/27 - 1
17-37884152-A-T c.3623A>T p.H1208L Missense 27/27 - 1
17-37884153-C-A c.3624C>A p.H1208Q Missense 27/27 - 1
17-37884154-C-A c.3625C>A p.P1209T Missense 27/27 - 1
17-37884155-C-A c.3626C>A p.P1209H Missense 27/27 - 1
17-37884158-C-A c.3629C>A p.P1210H Missense 27/27 - 1
17-37884159-T-A c.3630T>A p.P1210= Synonymous 27/27 - 1
17-37884159-T-C c.3630T>C p.P1210= Synonymous 27/27 - 1
17-37884159-T-G c.3630T>G p.P1210= Synonymous 27/27 - 1
17-37884160-C-G c.3631C>G p.P1211A Missense 27/27 - 1
17-37884164-C-G c.3635C>G p.A1212G Missense 27/27 - 1
17-37884166-T-C c.3637T>C p.F1213L Missense 27/27 - 1
17-37884168-C-A c.3639C>A p.F1213L Missense 27/27 - 1
17-37884168-C-G c.3639C>G p.F1213L Missense 27/27 - 1
17-37884176-C-A c.3647C>A p.A1216D Missense 27/27 - 4
17-37884180-C-T c.3651C>T p.F1217= Synonymous 27/27 - 2
17-37884181-G-A c.3652G>A p.D1218N Missense 27/27 - 1
17-37884185-A-G c.3656A>G p.N1219S Missense 27/27 - 1
17-37884187-C-A c.3658C>A p.L1220I Missense 27/27 - 1
17-37884191-A-G c.3662A>G p.Y1221C Missense 27/27 - 1
17-37884202-C-T c.3673C>T p.Q1225* Nonsense 27/27 - 1
17-37884217-C-T c.3688C>T p.R1230W Missense 27/27 - 3
17-37884218-G-C c.3689G>C p.R1230P Missense 27/27 - 1
17-37884217-C-CG c.3694dup p.A1232Gfs*45 Frameshift 27/27 - 1
17-37884217-CG-C c.3694del p.A1232Lfs*70 Frameshift 27/27 - 1
17-37884223-G-T c.3694G>T p.A1232S Missense 27/27 - 1
17-37884226-C-T c.3697C>T p.P1233S Missense 27/27 - 1
17-37884237-CT-C c.3710del p.F1237Sfs*65 Frameshift 27/27 - 1
17-37884254-C-T c.3725C>T p.T1242M Missense 27/27 - 2
17-37884256-G-A c.3727G>A p.A1243T Missense 27/27 - 1
17-37884259-G-A c.3730G>A p.E1244K Missense 27/27 - 1
17-37884268-G-A c.3739G>A p.E1247K Missense 27/27 - 1
17-37884271-TAC-GAG c.3742_3744delinsGAG p.Y1248E Missense 27/27 - 1
17-37884271-T-C c.3742T>C p.Y1248H Missense 27/27 - 20
17-37884271-T-G c.3742T>G p.Y1248D Missense 27/27 - 1
17-37884272-A-G c.3743A>G p.Y1248C Missense 27/27 - 5
17-37884272-A-T c.3743A>T p.Y1248F Missense 27/27 - 2
17-37884273-C-T c.3744C>T p.Y1248= Synonymous 27/27 - 1
17-37884281-T-A c.3752T>A p.L1251Q Missense 27/27 - 1
17-37884283-G-A c.3754G>A p.D1252N Missense 27/27 - 1
17-37884285-C-A c.3756C>A p.D1252E Missense 27/27 - 1
17-37884285-C-G c.3756C>G p.D1252E Missense 27/27 - 1
17-37884286-G-A c.3757G>A p.V1253M Missense 27/27 - 2
17-37884292-G-T c.3763G>T p.V1255L Missense 27/27 - 1
17-37884888-T-C c.*591T>C - 3-UTRSNV 27/27 - 1