EGR1 early growth response 1

Annotation transcript: NM_001964.3

2315 unique variant annotations were identified in 2260 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
5-137801452-T-C c.2T>C p.M1? Missense 1/2 - 2
5-137801453-G-A c.3G>A p.M1? Missense 1/2 - 1
5-137801454-G-C c.4G>C p.A2P Missense 1/2 - 1
5-137801456-C-A c.6C>A p.A2= Synonymous 1/2 - 20
5-137801456-C-G c.6C>G p.A2= Synonymous 1/2 - 20
5-137801456-C-T c.6C>T p.A2= Synonymous 1/2 - 20
5-137801458-C-T c.8C>T p.A3V Missense 1/2 - 1
5-137801459-G-A c.9G>A p.A3= Synonymous 1/2 - 11
5-137801459-G-C c.9G>C p.A3= Synonymous 1/2 - 10
5-137801459-G-T c.9G>T p.A3= Synonymous 1/2 - 10
5-137801460-G-A c.10G>A p.A4T Missense 1/2 - 3
5-137801460-G-T c.10G>T p.A4S Missense 1/2 - 1
5-137801461-C-T c.11C>T p.A4V Missense 1/2 - 1
5-137801462-C-A c.12C>A p.A4= Synonymous 1/2 - 9
5-137801462-C-G c.12C>G p.A4= Synonymous 1/2 - 7
5-137801462-C-T c.12C>T p.A4= Synonymous 1/2 - 8
5-137801465-G-A c.15G>A p.K5= Synonymous 1/2 - 1
5-137801467-C-A c.17C>A p.A6D Missense 1/2 - 1
5-137801468-C-CTGCA c.18_19insTGCA p.E7Cfs*13 Frameshift 1/2 - 1
5-137801468-C-T c.18C>T p.A6= Synonymous 1/2 - 7
5-137801468-C-A c.18C>A p.A6= Synonymous 1/2 - 7
5-137801468-C-G c.18C>G p.A6= Synonymous 1/2 - 7
5-137801470-A-T c.20A>T p.E7V Missense 1/2 - 1
5-137801473-T-G c.23T>G p.M8R Missense 1/2 - 1
5-137801477-G-A c.27G>A p.Q9= Synonymous 1/2 - 6
5-137801478-CT-GC c.28_29delinsGC p.L10A Missense 1/2 - 32
5-137801478-CTG-TTT c.28_30delinsTTT p.L10F Missense 1/2 - 18
5-137801478-CT-GA c.28_29delinsGA p.L10E Missense 1/2 - 4
5-137801478-CTG-ATC c.28_30delinsATC p.L10I Missense 1/2 - 17
5-137801478-C-G c.28C>G p.L10V Missense 1/2 - 2
5-137801478-CTG-AAC c.28_30delinsAAC p.L10N Missense 1/2 - 1
5-137801478-CTG-TAT c.28_30delinsTAT p.L10Y Missense 1/2 - 2
5-137801478-CT-AA c.28_29delinsAA p.L10K Missense 1/2 - 2
5-137801478-C-A c.28C>A p.L10M Missense 1/2 - 1
5-137801479-T-G c.29T>G p.L10R Missense 1/2 - 2
5-137801479-CT-C c.29del p.L10Rfs*29 Frameshift 1/2 - 1
5-137801479-T-C c.29T>C p.L10P Missense 1/2 - 6
5-137801478-C-T c.28C>T p.L10= Synonymous 1/2 - 2
5-137801480-G-T c.30G>T p.L10= Synonymous 1/2 - 2
5-137801480-G-A c.30G>A p.L10= Synonymous 1/2 - 2
5-137801480-G-C c.30G>C p.L10= Synonymous 1/2 - 2
5-137801481-AT-GC c.31_32delinsGC p.M11A Missense 1/2 - 6
5-137801481-A-C c.31A>C p.M11L Missense 1/2 - 3
5-137801481-A-T c.31A>T p.M11L Missense 1/2 - 2
5-137801481-AT-TG c.31_32delinsTG p.M11W Missense 1/2 - 1
5-137801481-ATG-GAC c.31_33delinsGAC p.M11D Missense 1/2 - 1
5-137801481-ATG-TGT c.31_33delinsTGT p.M11C Missense 1/2 - 1
5-137801481-A-G c.31A>G p.M11V Missense 1/2 - 1
5-137801482-T-C c.32T>C p.M11T Missense 1/2 - 3
5-137801484-T-G c.34T>G p.S12A Missense 1/2 - 140
5-137801484-TC-GA c.34_35inv p.S12D Missense 1/2 - 41
5-137801484-TCC-GAG c.34_36delinsGAG p.S12E Missense 1/2 - 20
5-137801484-TC-CA c.34_35delinsCA p.S12H Missense 1/2 - 3
5-137801484-T-C c.34T>C p.S12P Missense 1/2 - 3
5-137801484-TC-GG c.34_35delinsGG p.S12G Missense 1/2 - 5
5-137801484-T-A c.34T>A p.S12T Missense 1/2 - 1
5-137801485-C-G c.35C>G p.S12C Missense 1/2 - 67
5-137801485-C-T c.35C>T p.S12F Missense 1/2 - 14
5-137801485-CC-AA c.35_36delinsAA p.S12* Nonsense 1/2 - 2
5-137801485-C-A c.35C>A p.S12Y Missense 1/2 - 1
5-137801485-C-CGGAGGA c.35_36insGGAGGA p.S12_P13insED InFrameInsertion 1/2 - 1
5-137801486-C-T c.36C>T p.S12= Synonymous 1/2 - 4
5-137801486-C-G c.36C>G p.S12= Synonymous 1/2 - 4
5-137801486-C-A c.36C>A p.S12= Synonymous 1/2 - 4
5-137801486-C-CA c.36_37insA p.P13Tfs*6 Frameshift 1/2 - 1
5-137801483-GTCCCCGCTGCAGATC-G c.36_50del p.P13_S17del InFrameDeletion 1/2 - 1
5-137801484-TCCC-T c.36_38del p.P13del InFrameDeletion 1/2 - 1
5-137801486-CCCCGCTGCA-C c.36_44del p.P13_Q15del InFrameDeletion 1/2 - 1
5-137801487-CC-AA c.37_38delinsAA p.P13K Missense 1/2 - 58
5-137801487-CCG-TGT c.37_39delinsTGT p.P13C Missense 1/2 - 1
5-137801487-C-G c.37C>G p.P13A Missense 1/2 - 2
5-137801487-CC-GA c.37_38delinsGA p.P13E Missense 1/2 - 2
5-137801488-C-T c.38C>T p.P13L Missense 1/2 - 7
5-137801489-G-T c.39G>T p.P13= Synonymous 1/2 - 3
5-137801489-G-A c.39G>A p.P13= Synonymous 1/2 - 3
5-137801489-G-C c.39G>C p.P13= Synonymous 1/2 - 3
5-137801490-CT-GC c.40_41delinsGC p.L14A Missense 1/2 - 1
5-137801490-C-G c.40C>G p.L14V Missense 1/2 - 1
5-137801491-T-G c.41T>G p.L14R Missense 1/2 - 1
5-137801491-T-A c.41T>A p.L14Q Missense 1/2 - 1
5-137801491-T-C c.41T>C p.L14P Missense 1/2 - 1
5-137801492-G-T c.42G>T p.L14= Synonymous 1/2 - 1
5-137801492-G-A c.42G>A p.L14= Synonymous 1/2 - 1
5-137801492-G-C c.42G>C p.L14= Synonymous 1/2 - 1
5-137801490-C-T c.40C>T p.L14= Synonymous 1/2 - 1
5-137801493-CAG-TGT c.43_45delinsTGT p.Q15C Missense 1/2 - 1
5-137801493-CA-GC c.43_44delinsGC p.Q15A Missense 1/2 - 2
5-137801493-CAG-GAC c.43_45delinsGAC p.Q15D Missense 1/2 - 1
5-137801493-C-G c.43C>G p.Q15E Missense 1/2 - 1
5-137801495-G-T c.45G>T p.Q15H Missense 1/2 - 1
5-137801495-G-C c.45G>C p.Q15H Missense 1/2 - 1
5-137801495-G-A c.45G>A p.Q15= Synonymous 1/2 - 3
5-137801496-A-C c.46A>C p.I16L Missense 1/2 - 3
5-137801496-AT-GG c.46_47delinsGG p.I16G Missense 1/2 - 1
5-137801496-A-T c.46A>T p.I16F Missense 1/2 - 1
5-137801497-T-C c.47T>C p.I16T Missense 1/2 - 1
5-137801498-C-G c.48C>G p.I16M Missense 1/2 - 2
5-137801499-T-G c.49T>G p.S17A Missense 1/2 - 35
5-137801499-TC-GA c.49_50inv p.S17D Missense 1/2 - 6
5-137801499-T-C c.49T>C p.S17P Missense 1/2 - 3
5-137801499-TC-CA c.49_50delinsCA p.S17H Missense 1/2 - 1
5-137801499-TCT-GAG c.49_51delinsGAG p.S17E Missense 1/2 - 5
5-137801499-TC-AT c.49_50delinsAT p.S17I Missense 1/2 - 1
5-137801500-C-G c.50C>G p.S17C Missense 1/2 - 10
5-137801500-C-T c.50C>T p.S17F Missense 1/2 - 2
5-137801501-T-G c.51T>G p.S17= Synonymous 1/2 - 1
5-137801501-T-C c.51T>C p.S17= Synonymous 1/2 - 1
5-137801501-T-A c.51T>A p.S17= Synonymous 1/2 - 1
5-137801502-GAC-TAA c.52_54delinsTAA p.D18* Nonsense 1/2 - 1
5-137801502-GA-AG c.52_53delinsAG p.D18S Missense 1/2 - 2
5-137801502-GA-TT c.52_53delinsTT p.D18F Missense 1/2 - 1
5-137801502-G-A c.52G>A p.D18N Missense 1/2 - 1
5-137801502-GA-CT c.52_53delinsCT p.D18L Missense 1/2 - 1
5-137801503-A-C c.53A>C p.D18A Missense 1/2 - 3
5-137801503-A-G c.53A>G p.D18G Missense 1/2 - 2
5-137801505-CCG-TTT c.55_57delinsTTT p.P19F Missense 1/2 - 1
5-137801505-C-G c.55C>G p.P19A Missense 1/2 - 3
5-137801505-CC-TG c.55_56delinsTG p.P19W Missense 1/2 - 1
5-137801505-C-T c.55C>T p.P19S Missense 1/2 - 2
5-137801506-C-A c.56C>A p.P19Q Missense 1/2 - 1
5-137801507-CGT-C c.57_58del p.F20Rfs*14 Frameshift 1/2 - 1
5-137801508-TT-AC c.58_59delinsAC p.F20T Missense 1/2 - 1
5-137801508-T-C c.58T>C p.F20L Missense 1/2 - 1
5-137801508-TT-CC c.58_59delinsCC p.F20P Missense 1/2 - 1
5-137801509-TC-AA c.59_60delinsAA p.F20* Nonsense 1/2 - 4
5-137801509-T-C c.59T>C p.F20S Missense 1/2 - 1
5-137801509-TC-GG c.59_60delinsGG p.F20W Missense 1/2 - 1
5-137801509-T-G c.59T>G p.F20C Missense 1/2 - 1
5-137801511-G-T c.61G>T p.G21* Nonsense 1/2 - 2
5-137801511-G-A c.61G>A p.G21R Missense 1/2 - 1
5-137801512-G-C c.62G>C p.G21A Missense 1/2 - 1
5-137801512-G-T c.62G>T p.G21V Missense 1/2 - 1
5-137801512-G-A c.62G>A p.G21E Missense 1/2 - 1
5-137801510-CG-C c.62del p.G21Dfs*18 Frameshift 1/2 - 1
5-137801512-GA-AC c.62_63delinsAC p.G21D Missense 1/2 - 1
5-137801514-TC-GA c.64_65inv p.S22D Missense 1/2 - 6
5-137801514-T-G c.64T>G p.S22A Missense 1/2 - 19
5-137801514-TC-AA c.64_65delinsAA p.S22N Missense 1/2 - 1
5-137801514-TC-GG c.64_65delinsGG p.S22G Missense 1/2 - 1
5-137801514-TC-CA c.64_65delinsCA p.S22H Missense 1/2 - 1
5-137801514-TC-CG c.64_65delinsCG p.S22R Missense 1/2 - 2
5-137801514-T-A c.64T>A p.S22T Missense 1/2 - 1
5-137801514-T-C c.64T>C p.S22P Missense 1/2 - 1
5-137801515-C-G c.65C>G p.S22C Missense 1/2 - 6
5-137801515-C-T c.65C>T p.S22F Missense 1/2 - 1
5-137801515-C-A c.65C>A p.S22Y Missense 1/2 - 1
5-137801516-C-T c.66C>T p.S22= Synonymous 1/2 - 1
5-137801516-C-G c.66C>G p.S22= Synonymous 1/2 - 1
5-137801516-C-A c.66C>A p.S22= Synonymous 1/2 - 2
5-137801517-TT-CG c.67_68delinsCG p.F23R Missense 1/2 - 1
5-137801517-TTT-GAG c.67_69delinsGAG p.F23E Missense 1/2 - 2
5-137801517-TT-GG c.67_68delinsGG p.F23G Missense 1/2 - 1
5-137801517-TT-GC c.67_68delinsGC p.F23A Missense 1/2 - 3
5-137801517-TT-GA c.67_68delinsGA p.F23D Missense 1/2 - 2
5-137801517-T-A c.67T>A p.F23I Missense 1/2 - 1
5-137801517-T-C c.67T>C p.F23L Missense 1/2 - 1
5-137801518-T-G c.68T>G p.F23C Missense 1/2 - 4
5-137801518-TT-AA c.68_69inv p.F23* Nonsense 1/2 - 1
5-137801519-T-C c.69T>C p.F23= Synonymous 1/2 - 2
5-137801520-CCT-TAA c.70_72delinsTAA p.P24* Nonsense 1/2 - 1
5-137801520-CCT-GAG c.70_72delinsGAG p.P24E Missense 1/2 - 4
5-137801520-C-T c.70C>T p.P24S Missense 1/2 - 2
5-137801520-C-G c.70C>G p.P24A Missense 1/2 - 1
5-137801520-CC-GG c.70_71inv p.P24G Missense 1/2 - 1
5-137801520-C-A c.70C>A p.P24T Missense 1/2 - 1
5-137801521-C-A c.71C>A p.P24H Missense 1/2 - 2
5-137801523-CA-GC c.73_74delinsGC p.H25A Missense 1/2 - 9
5-137801523-CA-TG c.73_74inv p.H25C Missense 1/2 - 5
5-137801523-CAC-AAG c.73_75delinsAAG p.H25K Missense 1/2 - 1
5-137801523-CAC-GAG c.73_75delinsGAG p.H25E Missense 1/2 - 2
5-137801523-CAC-ATG c.73_75delinsATG p.H25M Missense 1/2 - 1
5-137801523-CA-TT c.73_74delinsTT p.H25F Missense 1/2 - 1
5-137801523-C-G c.73C>G p.H25D Missense 1/2 - 1
5-137801525-C-T c.75C>T p.H25= Synonymous 1/2 - 2
5-137801525-C-A c.75C>A p.H25Q Missense 1/2 - 1
5-137801525-C-G c.75C>G p.H25Q Missense 1/2 - 1
5-137801526-TCG-GAC c.76_78delinsGAC p.S26D Missense 1/2 - 4
5-137801526-T-G c.76T>G p.S26A Missense 1/2 - 7
5-137801526-T-C c.76T>C p.S26P Missense 1/2 - 1
5-137801526-T-A c.76T>A p.S26T Missense 1/2 - 1
5-137801526-TC-GA c.76_77inv p.S26E Missense 1/2 - 1
5-137801526-TCG-ATC c.76_78delinsATC p.S26I Missense 1/2 - 1
5-137801527-CG-GT c.77_78delinsGT p.S26C Missense 1/2 - 4
5-137801527-C-T c.77C>T p.S26L Missense 1/2 - 5
5-137801528-G-T c.78G>T p.S26= Synonymous 1/2 - 1
5-137801528-G-C c.78G>C p.S26= Synonymous 1/2 - 1
5-137801528-G-A c.78G>A p.S26= Synonymous 1/2 - 1
5-137801529-C-T c.79C>T p.P27S Missense 1/2 - 2
5-137801530-C-T c.80C>T p.P27L Missense 1/2 - 1
5-137801532-AC-GA c.82_83delinsGA p.T28D Missense 1/2 - 2
5-137801532-ACC-GAG c.82_84delinsGAG p.T28E Missense 1/2 - 1
5-137801532-AC-TT c.82_83delinsTT p.T28F Missense 1/2 - 3
5-137801532-A-G c.82A>G p.T28A Missense 1/2 - 4
5-137801532-ACC-TGG c.82_84delinsTGG p.T28W Missense 1/2 - 1
5-137801533-C-T c.83C>T p.T28I Missense 1/2 - 4
5-137801534-C-A c.84C>A p.T28= Synonymous 1/2 - 1
5-137801534-C-T c.84C>T p.T28= Synonymous 1/2 - 3
5-137801534-C-G c.84C>G p.T28= Synonymous 1/2 - 1
5-137801535-A-C c.85A>C p.M29L Missense 1/2 - 1
5-137801535-A-T c.85A>T p.M29L Missense 1/2 - 1
5-137801536-TG-GC c.86_87delinsGC p.M29S Missense 1/2 - 1
5-137801538-G-A c.88G>A p.D30N Missense 1/2 - 31
5-137801538-GA-TT c.88_89delinsTT p.D30F Missense 1/2 - 1
5-137801538-GA-AC c.88_89delinsAC p.D30T Missense 1/2 - 1
5-137801538-GA-TG c.88_89delinsTG p.D30C Missense 1/2 - 1
5-137801539-A-C c.89A>C p.D30A Missense 1/2 - 3
5-137801539-A-G c.89A>G p.D30G Missense 1/2 - 1
5-137801540-C-G c.90C>G p.D30E Missense 1/2 - 1
5-137801540-C-A c.90C>A p.D30E Missense 1/2 - 1
5-137801540-C-T c.90C>T p.D30= Synonymous 1/2 - 2
5-137801541-AA-GC c.91_92delinsGC p.N31A Missense 1/2 - 2
5-137801541-A-C c.91A>C p.N31H Missense 1/2 - 1
5-137801542-A-G c.92A>G p.N31S Missense 1/2 - 2
5-137801542-AC-GG c.92_93delinsGG p.N31R Missense 1/2 - 1
5-137801543-C-T c.93C>T p.N31= Synonymous 1/2 - 1
5-137801544-TA-GC c.94_95delinsGC p.Y32A Missense 1/2 - 1
5-137801544-TA-CG c.94_95delinsCG p.Y32R Missense 1/2 - 1
5-137801544-T-C c.94T>C p.Y32H Missense 1/2 - 4
5-137801544-TA-CC c.94_95delinsCC p.Y32P Missense 1/2 - 1
5-137801544-TA-CT c.94_95delinsCT p.Y32L Missense 1/2 - 1
5-137801546-C-T c.96C>T p.Y32= Synonymous 1/2 - 2
5-137801547-C-G c.97C>G p.P33A Missense 1/2 - 1
5-137801548-C-A c.98C>A p.P33H Missense 1/2 - 1
5-137801549-T-C c.99T>C p.P33= Synonymous 1/2 - 1
5-137801549-T-G c.99T>G p.P33= Synonymous 1/2 - 1
5-137801550-A-T c.100A>T p.K34* Nonsense 1/2 - 1
5-137801550-AA-GC c.100_101delinsGC p.K34A Missense 1/2 - 1
5-137801551-A-C c.101A>C p.K34T Missense 1/2 - 2
5-137801552-G-C c.102G>C p.K34N Missense 1/2 - 1
5-137801552-G-T c.102G>T p.K34N Missense 1/2 - 2
5-137801553-CT-GC c.103_104delinsGC p.L35A Missense 1/2 - 15
5-137801553-CT-GA c.103_104delinsGA p.L35E Missense 1/2 - 1
5-137801553-CT-TC c.103_104delinsTC p.L35S Missense 1/2 - 1
5-137801554-T-C c.104T>C p.L35P Missense 1/2 - 1
5-137801554-T-G c.104T>G p.L35R Missense 1/2 - 2
5-137801555-G-C c.105G>C p.L35= Synonymous 1/2 - 2
5-137801555-G-T c.105G>T p.L35= Synonymous 1/2 - 2
5-137801555-G-A c.105G>A p.L35= Synonymous 1/2 - 2
5-137801553-C-T c.103C>T p.L35= Synonymous 1/2 - 3
5-137801556-GAG-TGT c.106_108delinsTGT p.E36C Missense 1/2 - 2
5-137801556-GA-AG c.106_107delinsAG p.E36R Missense 1/2 - 3
5-137801556-G-A c.106G>A p.E36K Missense 1/2 - 4
5-137801556-G-C c.106G>C p.E36Q Missense 1/2 - 2
5-137801556-GA-AC c.106_107delinsAC p.E36T Missense 1/2 - 1
5-137801557-A-T c.107A>T p.E36V Missense 1/2 - 1
5-137801557-A-C c.107A>C p.E36A Missense 1/2 - 2
5-137801558-G-C c.108G>C p.E36D Missense 1/2 - 2
5-137801558-G-T c.108G>T p.E36D Missense 1/2 - 2
5-137801559-GAG-TGT c.109_111delinsTGT p.E37C Missense 1/2 - 1
5-137801559-GAG-TTT c.109_111delinsTTT p.E37F Missense 1/2 - 1
5-137801559-G-A c.109G>A p.E37K Missense 1/2 - 4
5-137801559-GA-AG c.109_110delinsAG p.E37R Missense 1/2 - 2
5-137801559-GAG-TAT c.109_111delinsTAT p.E37Y Missense 1/2 - 1
5-137801559-GA-TG c.109_110delinsTG p.E37W Missense 1/2 - 1
5-137801559-GA-AC c.109_110delinsAC p.E37T Missense 1/2 - 1
5-137801559-GAG-ATC c.109_111delinsATC p.E37I Missense 1/2 - 1
5-137801559-GA-CT c.109_110delinsCT p.E37L Missense 1/2 - 2
5-137801559-GAG-AAC c.109_111delinsAAC p.E37N Missense 1/2 - 1
5-137801559-G-T c.109G>T p.E37* Nonsense 1/2 - 1
5-137801559-G-C c.109G>C p.E37Q Missense 1/2 - 1
5-137801560-A-C c.110A>C p.E37A Missense 1/2 - 6
5-137801560-A-T c.110A>T p.E37V Missense 1/2 - 1
5-137801561-G-C c.111G>C p.E37D Missense 1/2 - 2
5-137801561-G-T c.111G>T p.E37D Missense 1/2 - 2
5-137801562-ATG-TAT c.112_114delinsTAT p.M38Y Missense 1/2 - 1
5-137801562-AT-TA c.112_113delinsTA p.M38* Nonsense 1/2 - 1
5-137801562-AT-GC c.112_113delinsGC p.M38A Missense 1/2 - 1
5-137801562-ATG-TTT c.112_114delinsTTT p.M38F Missense 1/2 - 1
5-137801564-G-T c.114G>T p.M38I Missense 1/2 - 1
5-137801565-A-C c.115A>C p.M39L Missense 1/2 - 3
5-137801565-A-T c.115A>T p.M39L Missense 1/2 - 1
5-137801565-ATG-TTT c.115_117delinsTTT p.M39F Missense 1/2 - 1
5-137801565-A-ATGTGTG c.117_118insTGTGTG p.M39_L40insCV InFrameInsertion 1/2 - 1
5-137801568-C-T c.118C>T p.L40= Synonymous 1/2 - 3
5-137801568-CT-GA c.118_119delinsGA p.L40E Missense 1/2 - 1
5-137801568-CT-GC c.118_119delinsGC p.L40A Missense 1/2 - 1
5-137801568-CTG-AAC c.118_120delinsAAC p.L40N Missense 1/2 - 2
5-137801568-CTG-TTT c.118_120delinsTTT p.L40F Missense 1/2 - 1
5-137801568-C-G c.118C>G p.L40V Missense 1/2 - 1
5-137801570-G-T c.120G>T p.L40= Synonymous 1/2 - 3
5-137801570-G-A c.120G>A p.L40= Synonymous 1/2 - 2
5-137801570-G-C c.120G>C p.L40= Synonymous 1/2 - 2
5-137801571-C-A c.121C>A p.L41M Missense 1/2 - 1
5-137801571-CT-GC c.121_122delinsGC p.L41A Missense 1/2 - 3
5-137801565-ATGC-A c.121_123del p.L41del InFrameDeletion 1/2 - 1
5-137801571-CTG-TTT c.121_123delinsTTT p.L41F Missense 1/2 - 1
5-137801572-T-A c.122T>A p.L41Q Missense 1/2 - 2
5-137801573-G-T c.123G>T p.L41= Synonymous 1/2 - 1
5-137801574-AG-GC c.124_125delinsGC p.S42A Missense 1/2 - 6
5-137801574-A-G c.124A>G p.S42G Missense 1/2 - 2
5-137801574-AG-GA c.124_125delinsGA p.S42D Missense 1/2 - 2
5-137801574-A-T c.124A>T p.S42C Missense 1/2 - 1
5-137801574-AGC-TGA c.124_126delinsTGA p.S42* Nonsense 1/2 - 1
5-137801574-AGC-CAA c.124_126delinsCAA p.S42Q Missense 1/2 - 1
5-137801574-AG-TA c.124_125delinsTA p.S42Y Missense 1/2 - 1
5-137801574-AG-TT c.124_125delinsTT p.S42F Missense 1/2 - 1
5-137801574-AG-CT c.124_125inv p.S42L Missense 1/2 - 1
5-137801574-AG-CC c.124_125delinsCC p.S42P Missense 1/2 - 1
5-137801575-GC-AG c.125_126delinsAG p.S42K Missense 1/2 - 1
5-137801575-G-C c.125G>C p.S42T Missense 1/2 - 1
5-137801576-C-G c.126C>G p.S42R Missense 1/2 - 1
5-137801576-C-A c.126C>A p.S42R Missense 1/2 - 1
5-137801574-A-C c.124A>C p.S42R Missense 1/2 - 1
5-137801577-A-G c.127A>G p.N43D Missense 1/2 - 2
5-137801577-AAC-GAG c.127_129delinsGAG p.N43E Missense 1/2 - 1
5-137801579-C-T c.129C>T p.N43= Synonymous 1/2 - 1
5-137801580-G-A c.130G>A p.G44R Missense 1/2 - 1
5-137801580-G-C c.130G>C p.G44R Missense 1/2 - 1
5-137801580-GG-CC c.130_131inv p.G44P Missense 1/2 - 1
5-137801580-GG-TA c.130_131delinsTA p.G44* Nonsense 1/2 - 1
5-137801580-GG-AC c.130_131delinsAC p.G44T Missense 1/2 - 1
5-137801581-G-A c.131G>A p.G44E Missense 1/2 - 1
5-137801581-G-C c.131G>C p.G44A Missense 1/2 - 1
5-137801582-G-A c.132G>A p.G44= Synonymous 1/2 - 1
5-137801582-G-C c.132G>C p.G44= Synonymous 1/2 - 1
5-137801583-GC-TG c.133_134delinsTG p.A45C Missense 1/2 - 3
5-137801583-GC-TT c.133_134delinsTT p.A45F Missense 1/2 - 3
5-137801583-GC-AA c.133_134delinsAA p.A45N Missense 1/2 - 3
5-137801579-CG-C c.133del p.A45Lfs*56 Frameshift 1/2 - 1
5-137801583-G-A c.133G>A p.A45T Missense 1/2 - 3
5-137801583-GCT-TAA c.133_135delinsTAA p.A45* Nonsense 1/2 - 2
5-137801583-GC-TA c.133_134delinsTA p.A45Y Missense 1/2 - 2
5-137801583-GC-AT c.133_134delinsAT p.A45I Missense 1/2 - 2
5-137801583-G-C c.133G>C p.A45P Missense 1/2 - 2
5-137801583-GCT-TGG c.133_135delinsTGG p.A45W Missense 1/2 - 2
5-137801583-GC-CA c.133_134delinsCA p.A45H Missense 1/2 - 1
5-137801583-GCT-AAG c.133_135delinsAAG p.A45K Missense 1/2 - 2
5-137801583-GC-CG c.133_134delinsCG p.A45R Missense 1/2 - 2
5-137801583-GCT-CAA c.133_135delinsCAA p.A45Q Missense 1/2 - 2
5-137801583-G-T c.133G>T p.A45S Missense 1/2 - 1
5-137801584-C-T c.134C>T p.A45V Missense 1/2 - 4
5-137801584-C-A c.134C>A p.A45D Missense 1/2 - 5
5-137801584-CT-AG c.134_135inv p.A45E Missense 1/2 - 7
5-137801584-C-G c.134C>G p.A45G Missense 1/2 - 2
5-137801585-T-A c.135T>A p.A45= Synonymous 1/2 - 2
5-137801585-T-C c.135T>C p.A45= Synonymous 1/2 - 2
5-137801585-T-G c.135T>G p.A45= Synonymous 1/2 - 2
5-137801586-C-G c.136C>G p.P46A Missense 1/2 - 1
5-137801586-C-T c.136C>T p.P46S Missense 1/2 - 1
5-137801587-C-T c.137C>T p.P46L Missense 1/2 - 4
5-137801589-C-G c.139C>G p.Q47E Missense 1/2 - 1
5-137801589-CA-GC c.139_140delinsGC p.Q47A Missense 1/2 - 3
5-137801590-A-G c.140A>G p.Q47R Missense 1/2 - 1
5-137801592-TT-GC c.142_143delinsGC p.F48A Missense 1/2 - 1
5-137801592-T-A c.142T>A p.F48I Missense 1/2 - 1
5-137801592-TTC-GAG c.142_144delinsGAG p.F48E Missense 1/2 - 2
5-137801592-TT-GA c.142_143delinsGA p.F48D Missense 1/2 - 1
5-137801593-TC-AA c.143_144delinsAA p.F48* Nonsense 1/2 - 1
5-137801593-T-C c.143T>C p.F48S Missense 1/2 - 1
5-137801595-C-A c.145C>A p.L49I Missense 1/2 - 1
5-137801595-CT-GG c.145_146delinsGG p.L49G Missense 1/2 - 1
5-137801597-C-T c.147C>T p.L49= Synonymous 1/2 - 1
5-137801598-G-A c.148G>A p.G50S Missense 1/2 - 1
5-137801598-GG-CT c.148_149delinsCT p.G50L Missense 1/2 - 1
5-137801599-G-A c.149G>A p.G50D Missense 1/2 - 1
5-137801600-C-T c.150C>T p.G50= Synonymous 1/2 - 2
5-137801601-GC-TG c.151_152delinsTG p.A51C Missense 1/2 - 3
5-137801601-G-T c.151G>T p.A51S Missense 1/2 - 2
5-137801601-GC-CG c.151_152delinsCG p.A51R Missense 1/2 - 8
5-137801601-GCC-TAA c.151_153delinsTAA p.A51* Nonsense 1/2 - 2
5-137801601-GCC-AAG c.151_153delinsAAG p.A51K Missense 1/2 - 2
5-137801601-GCC-TGG c.151_153delinsTGG p.A51W Missense 1/2 - 2
5-137801601-GC-TT c.151_152delinsTT p.A51F Missense 1/2 - 5
5-137801601-GC-CA c.151_152delinsCA p.A51H Missense 1/2 - 2
5-137801601-GC-TA c.151_152delinsTA p.A51Y Missense 1/2 - 2
5-137801601-GC-AA c.151_152delinsAA p.A51N Missense 1/2 - 2
5-137801601-G-A c.151G>A p.A51T Missense 1/2 - 2
5-137801601-G-C c.151G>C p.A51P Missense 1/2 - 1
5-137801602-CC-AG c.152_153delinsAG p.A51E Missense 1/2 - 6
5-137801602-C-T c.152C>T p.A51V Missense 1/2 - 3
5-137801602-C-A c.152C>A p.A51D Missense 1/2 - 8
5-137801602-C-G c.152C>G p.A51G Missense 1/2 - 2
5-137801603-C-G c.153C>G p.A51= Synonymous 1/2 - 6
5-137801603-C-A c.153C>A p.A51= Synonymous 1/2 - 6
5-137801603-C-T c.153C>T p.A51= Synonymous 1/2 - 6
5-137801604-GC-TG c.154_155delinsTG p.A52C Missense 1/2 - 9
5-137801604-G-A c.154G>A p.A52T Missense 1/2 - 3
5-137801604-GC-TT c.154_155delinsTT p.A52F Missense 1/2 - 8
5-137801604-GCC-CAA c.154_156delinsCAA p.A52Q Missense 1/2 - 2
5-137801604-GCC-TGG c.154_156delinsTGG p.A52W Missense 1/2 - 1
5-137801604-G-T c.154G>T p.A52S Missense 1/2 - 1
5-137801604-GC-AA c.154_155delinsAA p.A52N Missense 1/2 - 2
5-137801604-G-C c.154G>C p.A52P Missense 1/2 - 1
5-137801604-GCC-AAG c.154_156delinsAAG p.A52K Missense 1/2 - 1
5-137801604-GC-CT c.154_155delinsCT p.A52L Missense 1/2 - 1
5-137801604-GC-CG c.154_155delinsCG p.A52R Missense 1/2 - 1
5-137801605-CC-AG c.155_156delinsAG p.A52E Missense 1/2 - 12
5-137801605-C-A c.155C>A p.A52D Missense 1/2 - 5
5-137801605-C-T c.155C>T p.A52V Missense 1/2 - 2
5-137801605-C-G c.155C>G p.A52G Missense 1/2 - 1
5-137801606-C-A c.156C>A p.A52= Synonymous 1/2 - 4
5-137801606-C-G c.156C>G p.A52= Synonymous 1/2 - 4
5-137801606-C-T c.156C>T p.A52= Synonymous 1/2 - 4
5-137801607-GGG-AGC c.157_159delinsAGC p.G53S Missense 1/2 - 1
5-137801607-G-C c.157G>C p.G53R Missense 1/2 - 1
5-137801608-G-C c.158G>C p.G53A Missense 1/2 - 3
5-137801608-G-A c.158G>A p.G53E Missense 1/2 - 1
5-137801610-GC-TT c.160_161delinsTT p.A54F Missense 1/2 - 3
5-137801610-GC-TG c.160_161delinsTG p.A54C Missense 1/2 - 6
5-137801610-G-A c.160G>A p.A54T Missense 1/2 - 6
5-137801610-GC-CT c.160_161delinsCT p.A54L Missense 1/2 - 5
5-137801610-GC-TA c.160_161delinsTA p.A54Y Missense 1/2 - 3
5-137801610-GC-CA c.160_161delinsCA p.A54H Missense 1/2 - 1
5-137801610-GCC-AAG c.160_162delinsAAG p.A54K Missense 1/2 - 1
5-137801610-GC-AA c.160_161delinsAA p.A54N Missense 1/2 - 4
5-137801610-GC-AT c.160_161delinsAT p.A54I Missense 1/2 - 1
5-137801610-GCC-TAA c.160_162delinsTAA p.A54* Nonsense 1/2 - 3
5-137801610-GC-CG c.160_161delinsCG p.A54R Missense 1/2 - 1
5-137801610-G-T c.160G>T p.A54S Missense 1/2 - 3
5-137801611-CC-AG c.161_162delinsAG p.A54E Missense 1/2 - 4
5-137801611-C-A c.161C>A p.A54D Missense 1/2 - 5
5-137801611-C-G c.161C>G p.A54G Missense 1/2 - 1
5-137801611-C-T c.161C>T p.A54V Missense 1/2 - 1
5-137801612-C-A c.162C>A p.A54= Synonymous 1/2 - 6
5-137801612-C-G c.162C>G p.A54= Synonymous 1/2 - 6
5-137801612-C-T c.162C>T p.A54= Synonymous 1/2 - 6
5-137801613-C-T c.163C>T p.P55S Missense 1/2 - 2
5-137801614-C-T c.164C>T p.P55L Missense 1/2 - 2
5-137801616-GA-AG c.166_167delinsAG p.E56R Missense 1/2 - 1
5-137801616-G-C c.166G>C p.E56Q Missense 1/2 - 1
5-137801616-G-A c.166G>A p.E56K Missense 1/2 - 1
5-137801616-GA-TC c.166_167inv p.E56S Missense 1/2 - 1
5-137801618-G-C c.168G>C p.E56D Missense 1/2 - 2
5-137801618-G-T c.168G>T p.E56D Missense 1/2 - 2
5-137801618-G-A c.168G>A p.E56= Synonymous 1/2 - 1
5-137801619-G-C c.169G>C p.G57R Missense 1/2 - 2
5-137801619-GG-AC c.169_170delinsAC p.G57T Missense 1/2 - 1
5-137801619-GGC-TGG c.169_171delinsTGG p.G57W Missense 1/2 - 1
5-137801620-G-A c.170G>A p.G57D Missense 1/2 - 2
5-137801620-GC-AG c.170_171delinsAG p.G57E Missense 1/2 - 1
5-137801621-C-G c.171C>G p.G57= Synonymous 1/2 - 2
5-137801621-C-A c.171C>A p.G57= Synonymous 1/2 - 2
5-137801621-C-T c.171C>T p.G57= Synonymous 1/2 - 2
5-137801622-AG-GC c.172_173delinsGC p.S58A Missense 1/2 - 4
5-137801622-A-T c.172A>T p.S58C Missense 1/2 - 1
5-137801622-AG-GA c.172_173delinsGA p.S58D Missense 1/2 - 2
5-137801622-A-G c.172A>G p.S58G Missense 1/2 - 2
5-137801622-AGC-CAA c.172_174delinsCAA p.S58Q Missense 1/2 - 1
5-137801623-G-A c.173G>A p.S58N Missense 1/2 - 1
5-137801624-C-G c.174C>G p.S58R Missense 1/2 - 1
5-137801624-C-A c.174C>A p.S58R Missense 1/2 - 2
5-137801622-A-C c.172A>C p.S58R Missense 1/2 - 1
5-137801624-C-T c.174C>T p.S58= Synonymous 1/2 - 1
5-137801625-G-C c.175G>C p.G59R Missense 1/2 - 2
5-137801625-G-A c.175G>A p.G59S Missense 1/2 - 2
5-137801625-G-T c.175G>T p.G59C Missense 1/2 - 1
5-137801626-G-A c.176G>A p.G59D Missense 1/2 - 1
5-137801626-G-C c.176G>C p.G59A Missense 1/2 - 2
5-137801628-AG-CC c.178_179delinsCC p.S60P Missense 1/2 - 2
5-137801628-AG-GA c.178_179delinsGA p.S60D Missense 1/2 - 1
5-137801628-AG-GC c.178_179delinsGC p.S60A Missense 1/2 - 1
5-137801628-AG-CA c.178_179delinsCA p.S60H Missense 1/2 - 1
5-137801628-A-C c.178A>C p.S60R Missense 1/2 - 1
5-137801628-AG-TT c.178_179delinsTT p.S60F Missense 1/2 - 1
5-137801628-AG-TA c.178_179delinsTA p.S60Y Missense 1/2 - 1
5-137801629-G-A c.179G>A p.S60N Missense 1/2 - 1
5-137801629-G-T c.179G>T p.S60I Missense 1/2 - 1
5-137801630-C-T c.180C>T p.S60= Synonymous 1/2 - 1
5-137801631-AAC-TAA c.181_183delinsTAA p.N61* Nonsense 1/2 - 1
5-137801631-AA-GC c.181_182delinsGC p.N61A Missense 1/2 - 1
5-137801632-A-G c.182A>G p.N61S Missense 1/2 - 1
5-137801633-C-A c.183C>A p.N61K Missense 1/2 - 1
5-137801633-C-T c.183C>T p.N61= Synonymous 1/2 - 1
5-137801634-AG-TT c.184_185delinsTT p.S62F Missense 1/2 - 1
5-137801634-A-T c.184A>T p.S62C Missense 1/2 - 2
5-137801634-AG-GC c.184_185delinsGC p.S62A Missense 1/2 - 2
5-137801634-AG-GA c.184_185delinsGA p.S62D Missense 1/2 - 1
5-137801634-AG-CC c.184_185delinsCC p.S62P Missense 1/2 - 2
5-137801635-G-C c.185G>C p.S62T Missense 1/2 - 1
5-137801635-G-A c.185G>A p.S62N Missense 1/2 - 2
5-137801636-C-T c.186C>T p.S62= Synonymous 1/2 - 1
5-137801636-C-G c.186C>G p.S62R Missense 1/2 - 1
5-137801636-C-CT c.186_187insT p.S63* Nonsense 1/2 - 1
5-137801637-AG-GC c.187_188delinsGC p.S63A Missense 1/2 - 3
5-137801637-AGC-GAG c.187_189delinsGAG p.S63E Missense 1/2 - 1
5-137801637-AG-CA c.187_188delinsCA p.S63H Missense 1/2 - 1
5-137801637-A-T c.187A>T p.S63C Missense 1/2 - 1
5-137801637-AG-GA c.187_188delinsGA p.S63D Missense 1/2 - 1
5-137801637-A-G c.187A>G p.S63G Missense 1/2 - 3
5-137801637-AG-TA c.187_188delinsTA p.S63Y Missense 1/2 - 2
5-137801639-C-G c.189C>G p.S63R Missense 1/2 - 2
5-137801639-C-A c.189C>A p.S63R Missense 1/2 - 3
5-137801637-A-C c.187A>C p.S63R Missense 1/2 - 2
5-137801639-C-T c.189C>T p.S63= Synonymous 1/2 - 1
5-137801640-AG-GC c.190_191delinsGC p.S64A Missense 1/2 - 3
5-137801640-A-G c.190A>G p.S64G Missense 1/2 - 3
5-137801640-AG-GT c.190_191delinsGT p.S64V Missense 1/2 - 1
5-137801640-A-C c.190A>C p.S64R Missense 1/2 - 1
5-137801642-C-T c.192C>T p.S64= Synonymous 1/2 - 1
5-137801643-AG-GC c.193_194delinsGC p.S65A Missense 1/2 - 6
5-137801643-A-T c.193A>T p.S65C Missense 1/2 - 2
5-137801643-AGC-TGG c.193_195delinsTGG p.S65W Missense 1/2 - 1
5-137801643-A-G c.193A>G p.S65G Missense 1/2 - 4
5-137801643-AG-CT c.193_194inv p.S65L Missense 1/2 - 1
5-137801643-AG-CC c.193_194delinsCC p.S65P Missense 1/2 - 2
5-137801644-G-C c.194G>C p.S65T Missense 1/2 - 20
5-137801644-G-A c.194G>A p.S65N Missense 1/2 - 1
5-137801645-C-T c.195C>T p.S65= Synonymous 1/2 - 3
5-137801646-AG-GC c.196_197delinsGC p.S66A Missense 1/2 - 3
5-137801646-AG-CC c.196_197delinsCC p.S66P Missense 1/2 - 2
5-137801646-A-T c.196A>T p.S66C Missense 1/2 - 1
5-137801646-AG-GA c.196_197delinsGA p.S66D Missense 1/2 - 1
5-137801646-AG-TA c.196_197delinsTA p.S66Y Missense 1/2 - 1
5-137801647-G-C c.197G>C p.S66T Missense 1/2 - 1
5-137801649-AG-GC c.199_200delinsGC p.S67A Missense 1/2 - 3
5-137801649-AG-GT c.199_200delinsGT p.S67V Missense 1/2 - 1
5-137801649-AG-CT c.199_200inv p.S67L Missense 1/2 - 1
5-137801649-A-G c.199A>G p.S67G Missense 1/2 - 1
5-137801632-ACAG-A c.199_201del p.S67del InFrameDeletion 1/2 - 1
5-137801650-G-A c.200G>A p.S67N Missense 1/2 - 2
5-137801652-GGG-TAT c.202_204delinsTAT p.G68Y Missense 1/2 - 1
5-137801652-G-T c.202G>T p.G68W Missense 1/2 - 3
5-137801652-G-A c.202G>A p.G68R Missense 1/2 - 1
5-137801653-G-T c.203G>T p.G68V Missense 1/2 - 1
5-137801653-G-A c.203G>A p.G68E Missense 1/2 - 1
5-137801654-G-T c.204G>T p.G68= Synonymous 1/2 - 1
5-137801654-G-A c.204G>A p.G68= Synonymous 1/2 - 1
5-137801654-G-C c.204G>C p.G68= Synonymous 1/2 - 1
5-137801655-GG-TT c.205_206delinsTT p.G69F Missense 1/2 - 1
5-137801655-G-C c.205G>C p.G69R Missense 1/2 - 1
5-137801655-G-A c.205G>A p.G69S Missense 1/2 - 2
5-137801656-GC-AG c.206_207delinsAG p.G69E Missense 1/2 - 2
5-137801658-G-C c.208G>C p.G70R Missense 1/2 - 1
5-137801658-GGT-TGA c.208_210delinsTGA p.G70* Nonsense 1/2 - 1
5-137801659-GT-AG c.209_210delinsAG p.G70E Missense 1/2 - 1
5-137801659-G-C c.209G>C p.G70A Missense 1/2 - 1
5-137801659-G-GT c.210dup p.G71Wfs*37 Frameshift 1/2 - 1
5-137801660-T-A c.210T>A p.G70= Synonymous 1/2 - 1
5-137801661-GGA-AGC c.211_213delinsAGC p.G71S Missense 1/2 - 2
5-137801661-G-A c.211G>A p.G71R Missense 1/2 - 1
5-137801661-G-C c.211G>C p.G71R Missense 1/2 - 1
5-137801661-GGA-TGT c.211_213delinsTGT p.G71C Missense 1/2 - 1
5-137801662-G-T c.212G>T p.G71V Missense 1/2 - 1
5-137801664-G-T c.214G>T p.G72C Missense 1/2 - 2
5-137801664-G-A c.214G>A p.G72S Missense 1/2 - 1
5-137801664-GG-AC c.214_215delinsAC p.G72T Missense 1/2 - 1
5-137801664-GG-CA c.214_215delinsCA p.G72H Missense 1/2 - 1
5-137801664-G-C c.214G>C p.G72R Missense 1/2 - 1
5-137801665-G-A c.215G>A p.G72D Missense 1/2 - 1
5-137801665-G-C c.215G>C p.G72A Missense 1/2 - 1
5-137801666-C-G c.216C>G p.G72= Synonymous 1/2 - 1
5-137801666-C-T c.216C>T p.G72= Synonymous 1/2 - 1
5-137801667-G-A c.217G>A p.G73S Missense 1/2 - 16
5-137801667-GG-AC c.217_218delinsAC p.G73T Missense 1/2 - 2
5-137801667-GG-AA c.217_218delinsAA p.G73N Missense 1/2 - 1
5-137801667-G-T c.217G>T p.G73C Missense 1/2 - 7
5-137801667-GG-TA c.217_218delinsTA p.G73Y Missense 1/2 - 1
5-137801667-G-C c.217G>C p.G73R Missense 1/2 - 1
5-137801668-G-T c.218G>T p.G73V Missense 1/2 - 1
5-137801668-G-C c.218G>C p.G73A Missense 1/2 - 2
5-137801669-C-T c.219C>T p.G73= Synonymous 1/2 - 1
5-137801669-C-G c.219C>G p.G73= Synonymous 1/2 - 1
5-137801669-C-A c.219C>A p.G73= Synonymous 1/2 - 1
5-137801670-GGG-TGT c.220_222delinsTGT p.G74C Missense 1/2 - 1
5-137801670-GGG-TTT c.220_222delinsTTT p.G74F Missense 1/2 - 1
5-137801670-GGG-TAT c.220_222delinsTAT p.G74Y Missense 1/2 - 1
5-137801670-GGG-AGC c.220_222delinsAGC p.G74S Missense 1/2 - 1
5-137801670-G-T c.220G>T p.G74W Missense 1/2 - 1
5-137801670-G-A c.220G>A p.G74R Missense 1/2 - 1
5-137801670-G-C c.220G>C p.G74R Missense 1/2 - 1
5-137801671-G-A c.221G>A p.G74E Missense 1/2 - 1
5-137801671-GG-AC c.221_222delinsAC p.G74D Missense 1/2 - 1
5-137801671-G-T c.221G>T p.G74V Missense 1/2 - 1
5-137801673-G-C c.223G>C p.G75R Missense 1/2 - 1
5-137801674-G-T c.224G>T p.G75V Missense 1/2 - 9
5-137801674-G-A c.224G>A p.G75D Missense 1/2 - 2
5-137801675-C-T c.225C>T p.G75= Synonymous 1/2 - 3
5-137801675-C-G c.225C>G p.G75= Synonymous 1/2 - 1
5-137801675-C-A c.225C>A p.G75= Synonymous 1/2 - 1
5-137801676-G-T c.226G>T p.G76C Missense 1/2 - 1
5-137801676-G-A c.226G>A p.G76S Missense 1/2 - 2
5-137801677-G-T c.227G>T p.G76V Missense 1/2 - 6
5-137801677-G-A c.227G>A p.G76D Missense 1/2 - 1
5-137801677-G-C c.227G>C p.G76A Missense 1/2 - 5
5-137801677-GC-AG c.227_228delinsAG p.G76E Missense 1/2 - 1
5-137801679-AG-TA c.229_230delinsTA p.S77Y Missense 1/2 - 3
5-137801679-AG-GC c.229_230delinsGC p.S77A Missense 1/2 - 2
5-137801679-A-T c.229A>T p.S77C Missense 1/2 - 2
5-137801679-AG-GA c.229_230delinsGA p.S77D Missense 1/2 - 1
5-137801679-AG-TT c.229_230delinsTT p.S77F Missense 1/2 - 1
5-137801680-G-T c.230G>T p.S77I Missense 1/2 - 1
5-137801682-AA-GC c.232_233delinsGC p.N78A Missense 1/2 - 1
5-137801682-A-G c.232A>G p.N78D Missense 1/2 - 1
5-137801683-A-G c.233A>G p.N78S Missense 1/2 - 1
5-137801684-C-T c.234C>T p.N78= Synonymous 1/2 - 1
5-137801685-A-G c.235A>G p.S79G Missense 1/2 - 1
5-137801685-AG-GC c.235_236delinsGC p.S79A Missense 1/2 - 2
5-137801685-A-T c.235A>T p.S79C Missense 1/2 - 1
5-137801685-AG-GA c.235_236delinsGA p.S79D Missense 1/2 - 1
5-137801686-G-A c.236G>A p.S79N Missense 1/2 - 2
5-137801688-AG-TT c.238_239delinsTT p.S80F Missense 1/2 - 2
5-137801688-AG-GC c.238_239delinsGC p.S80A Missense 1/2 - 3
5-137801688-A-T c.238A>T p.S80C Missense 1/2 - 1
5-137801688-AG-GA c.238_239delinsGA p.S80D Missense 1/2 - 1
5-137801688-A-G c.238A>G p.S80G Missense 1/2 - 1
5-137801688-AG-CC c.238_239delinsCC p.S80P Missense 1/2 - 1
5-137801688-AG-CT c.238_239inv p.S80L Missense 1/2 - 2
5-137801688-AG-TA c.238_239delinsTA p.S80Y Missense 1/2 - 1
5-137801689-G-T c.239G>T p.S80I Missense 1/2 - 8
5-137801690-C-A c.240C>A p.S80R Missense 1/2 - 5
5-137801690-C-G c.240C>G p.S80R Missense 1/2 - 6
5-137801688-A-C c.238A>C p.S80R Missense 1/2 - 5
5-137801690-C-T c.240C>T p.S80= Synonymous 1/2 - 1
5-137801691-AG-GC c.241_242delinsGC p.S81A Missense 1/2 - 2
5-137801691-A-T c.241A>T p.S81C Missense 1/2 - 1
5-137801691-AG-GA c.241_242delinsGA p.S81D Missense 1/2 - 1
5-137801691-AGC-TGG c.241_243delinsTGG p.S81W Missense 1/2 - 1
5-137801692-G-A c.242G>A p.S81N Missense 1/2 - 2
5-137801692-G-T c.242G>T p.S81I Missense 1/2 - 1
5-137801691-A-AG c.242dup p.S81Rfs*27 Frameshift 1/2 - 1
5-137801693-C-G c.243C>G p.S81R Missense 1/2 - 1
5-137801694-AG-GC c.244_245delinsGC p.S82A Missense 1/2 - 3
5-137801694-A-T c.244A>T p.S82C Missense 1/2 - 1
5-137801694-AG-GA c.244_245delinsGA p.S82D Missense 1/2 - 1
5-137801694-AGC-TGA c.244_246delinsTGA p.S82* Nonsense 1/2 - 1
5-137801694-AG-CA c.244_245delinsCA p.S82H Missense 1/2 - 1
5-137801694-AG-TT c.244_245delinsTT p.S82F Missense 1/2 - 1
5-137801694-AGC-TGG c.244_246delinsTGG p.S82W Missense 1/2 - 1
5-137801696-C-G c.246C>G p.S82R Missense 1/2 - 1
5-137801696-C-A c.246C>A p.S82R Missense 1/2 - 2
5-137801694-A-C c.244A>C p.S82R Missense 1/2 - 1
5-137801697-AG-CT c.247_248inv p.S83L Missense 1/2 - 13
5-137801697-AG-GC c.247_248delinsGC p.S83A Missense 1/2 - 5
5-137801697-AG-TA c.247_248delinsTA p.S83Y Missense 1/2 - 3
5-137801697-AG-GA c.247_248delinsGA p.S83D Missense 1/2 - 1
5-137801697-A-T c.247A>T p.S83C Missense 1/2 - 1
5-137801697-AGC-TGG c.247_249delinsTGG p.S83W Missense 1/2 - 1
5-137801697-AG-TT c.247_248delinsTT p.S83F Missense 1/2 - 3
5-137801697-A-G c.247A>G p.S83G Missense 1/2 - 2
5-137801698-G-T c.248G>T p.S83I Missense 1/2 - 3
5-137801698-G-A c.248G>A p.S83N Missense 1/2 - 1
5-137801699-C-G c.249C>G p.S83R Missense 1/2 - 2
5-137801699-C-A c.249C>A p.S83R Missense 1/2 - 3
5-137801697-A-C c.247A>C p.S83R Missense 1/2 - 2
5-137801700-AG-GC c.250_251delinsGC p.S84A Missense 1/2 - 4
5-137801700-AG-CT c.250_251inv p.S84L Missense 1/2 - 9
5-137801700-AG-GA c.250_251delinsGA p.S84D Missense 1/2 - 1
5-137801700-A-T c.250A>T p.S84C Missense 1/2 - 1
5-137801700-AG-TA c.250_251delinsTA p.S84Y Missense 1/2 - 3
5-137801700-A-G c.250A>G p.S84G Missense 1/2 - 1
5-137801700-AG-TT c.250_251delinsTT p.S84F Missense 1/2 - 1
5-137801683-ACAG-A c.251_253del p.S84del InFrameDeletion 1/2 - 1
5-137801702-C-T c.252C>T p.S84= Synonymous 1/2 - 1
5-137801702-C-A c.252C>A p.S84R Missense 1/2 - 2
5-137801702-C-G c.252C>G p.S84R Missense 1/2 - 1
5-137801700-A-C c.250A>C p.S84R Missense 1/2 - 1
5-137801703-AC-GT c.253_254inv p.T85V Missense 1/2 - 1
5-137801703-A-G c.253A>G p.T85A Missense 1/2 - 2
5-137801703-AC-TG c.253_254delinsTG p.T85C Missense 1/2 - 1
5-137801703-A-C c.253A>C p.T85P Missense 1/2 - 1
5-137801703-ACC-CAA c.253_255delinsCAA p.T85Q Missense 1/2 - 1
5-137801703-ACC-GAG c.253_255delinsGAG p.T85E Missense 1/2 - 1
5-137801704-C-G c.254C>G p.T85S Missense 1/2 - 1
5-137801703-A-T c.253A>T p.T85S Missense 1/2 - 1
5-137801704-C-T c.254C>T p.T85I Missense 1/2 - 8
5-137801706-TTC-GAG c.256_258delinsGAG p.F86E Missense 1/2 - 1
5-137801706-TT-AA c.256_257inv p.F86N Missense 1/2 - 1
5-137801706-T-C c.256T>C p.F86L Missense 1/2 - 2
5-137801708-C-A c.258C>A p.F86L Missense 1/2 - 2
5-137801708-C-G c.258C>G p.F86L Missense 1/2 - 2
5-137801706-TT-CC c.256_257delinsCC p.F86P Missense 1/2 - 1
5-137801707-T-G c.257T>G p.F86C Missense 1/2 - 1
5-137801707-TC-AA c.257_258delinsAA p.F86* Nonsense 1/2 - 1
5-137801707-T-C c.257T>C p.F86S Missense 1/2 - 1
5-137801707-T-A c.257T>A p.F86Y Missense 1/2 - 1
5-137801708-C-T c.258C>T p.F86= Synonymous 1/2 - 3
5-137801709-A-T c.259A>T p.N87Y Missense 1/2 - 2
5-137801709-A-G c.259A>G p.N87D Missense 1/2 - 1
5-137801710-A-G c.260A>G p.N87S Missense 1/2 - 2
5-137801711-ACCCTCAGGC-A c.261_269del p.N87_A90delinsK MultiAAMissense 1/2 - 1
5-137801712-C-T c.262C>T p.P88S Missense 1/2 - 4
5-137801712-C-G c.262C>G p.P88A Missense 1/2 - 1
5-137801713-C-T c.263C>T p.P88L Missense 1/2 - 1
5-137801713-CT-AA c.263_264delinsAA p.P88Q Missense 1/2 - 1
5-137801715-CA-GC c.265_266delinsGC p.Q89A Missense 1/2 - 2
5-137801715-C-G c.265C>G p.Q89E Missense 1/2 - 1
5-137801715-CAG-AAC c.265_267delinsAAC p.Q89N Missense 1/2 - 1
5-137801717-G-T c.267G>T p.Q89H Missense 1/2 - 2
5-137801717-G-C c.267G>C p.Q89H Missense 1/2 - 2
5-137801717-G-A c.267G>A p.Q89= Synonymous 1/2 - 1
5-137801718-GC-TA c.268_269delinsTA p.A90* Nonsense 1/2 - 1
5-137801718-GCG-TTT c.268_270delinsTTT p.A90F Missense 1/2 - 4
5-137801718-GC-CA c.268_269delinsCA p.A90Q Missense 1/2 - 3
5-137801718-GCG-TGT c.268_270delinsTGT p.A90C Missense 1/2 - 10
5-137801718-G-C c.268G>C p.A90P Missense 1/2 - 2
5-137801718-GCG-TAT c.268_270delinsTAT p.A90Y Missense 1/2 - 2
5-137801718-G-T c.268G>T p.A90S Missense 1/2 - 2
5-137801718-GC-TG c.268_269delinsTG p.A90W Missense 1/2 - 2
5-137801718-G-A c.268G>A p.A90T Missense 1/2 - 1
5-137801719-C-A c.269C>A p.A90E Missense 1/2 - 3
5-137801719-C-T c.269C>T p.A90V Missense 1/2 - 5
5-137801719-CG-AC c.269_270delinsAC p.A90D Missense 1/2 - 1
5-137801719-C-G c.269C>G p.A90G Missense 1/2 - 1
5-137801720-G-A c.270G>A p.A90= Synonymous 1/2 - 4
5-137801720-G-C c.270G>C p.A90= Synonymous 1/2 - 4
5-137801720-G-T c.270G>T p.A90= Synonymous 1/2 - 4
5-137801721-G-A c.271G>A p.D91N Missense 1/2 - 1
5-137801722-GACACGGGCGAGCAGCCCTACGAGCACC-G c.272_298del p.D91_L100delinsV MultiAAMissense 1/2 - 1
5-137801723-C-T c.273C>T p.D91= Synonymous 1/2 - 1
5-137801724-A-G c.274A>G p.T92A Missense 1/2 - 6
5-137801724-AC-GG c.274_275delinsGG p.T92G Missense 1/2 - 1
5-137801727-G-T c.277G>T p.G93C Missense 1/2 - 2
5-137801727-G-A c.277G>A p.G93S Missense 1/2 - 3
5-137801727-G-C c.277G>C p.G93R Missense 1/2 - 2
5-137801727-GGC-ATG c.277_279delinsATG p.G93M Missense 1/2 - 1
5-137801728-G-C c.278G>C p.G93A Missense 1/2 - 133
5-137801729-C-T c.279C>T p.G93= Synonymous 1/2 - 1
5-137801729-C-A c.279C>A p.G93= Synonymous 1/2 - 1
5-137801730-G-C c.280G>C p.E94Q Missense 1/2 - 1
5-137801730-G-A c.280G>A p.E94K Missense 1/2 - 1
5-137801730-GAG-TGT c.280_282delinsTGT p.E94C Missense 1/2 - 1
5-137801731-A-C c.281A>C p.E94A Missense 1/2 - 2
5-137801731-A-G c.281A>G p.E94G Missense 1/2 - 1
5-137801732-G-A c.282G>A p.E94= Synonymous 1/2 - 1
5-137801733-C-A c.283C>A p.Q95K Missense 1/2 - 5
5-137801734-A-G c.284A>G p.Q95R Missense 1/2 - 2
5-137801732-GCAGCCCTACGAGCA-G c.284_297del p.Q95Pfs*8 Frameshift 1/2 - 1
5-137801734-A-T c.284A>T p.Q95L Missense 1/2 - 1
5-137801735-G-T c.285G>T p.Q95H Missense 1/2 - 6
5-137801735-G-C c.285G>C p.Q95H Missense 1/2 - 6
5-137801736-C-G c.286C>G p.P96A Missense 1/2 - 2
5-137801736-C-T c.286C>T p.P96S Missense 1/2 - 1
5-137801736-C-A c.286C>A p.P96T Missense 1/2 - 1
5-137801738-C-T c.288C>T p.P96= Synonymous 1/2 - 1
5-137801738-C-G c.288C>G p.P96= Synonymous 1/2 - 1
5-137801738-C-A c.288C>A p.P96= Synonymous 1/2 - 1
5-137801739-TAC-GAG c.289_291delinsGAG p.Y97E Missense 1/2 - 1
5-137801739-T-G c.289T>G p.Y97D Missense 1/2 - 1
5-137801739-TA-GC c.289_290delinsGC p.Y97A Missense 1/2 - 1
5-137801739-TA-CT c.289_290delinsCT p.Y97L Missense 1/2 - 1
5-137801739-TACGAGCACCTGACCGCAGGTAAGCAGTGGCCTACGCCGAGGGGGAACCCTTTCGCCACC-T c.291_307+42del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/2 1/1 1
5-137801741-C-G c.291C>G p.Y97* Nonsense 1/2 - 1
5-137801742-G-A c.292G>A p.E98K Missense 1/2 - 2
5-137801742-GAG-CAT c.292_294delinsCAT p.E98H Missense 1/2 - 1
5-137801743-A-G c.293A>G p.E98G Missense 1/2 - 1
5-137801743-A-C c.293A>C p.E98A Missense 1/2 - 1
5-137801744-G-A c.294G>A p.E98= Synonymous 1/2 - 2
5-137801745-CA-GC c.295_296delinsGC p.H99A Missense 1/2 - 3
5-137801745-CA-TG c.295_296inv p.H99C Missense 1/2 - 1
5-137801748-CTG-ATC c.298_300delinsATC p.L100I Missense 1/2 - 33
5-137801748-C-A c.298C>A p.L100M Missense 1/2 - 2
5-137801748-C-G c.298C>G p.L100V Missense 1/2 - 1
5-137801748-C-T c.298C>T p.L100= Synonymous 1/2 - 2
5-137801748-CT-AA c.298_299delinsAA p.L100K Missense 1/2 - 3
5-137801749-T-C c.299T>C p.L100P Missense 1/2 - 1
5-137801751-AC-TG c.301_302delinsTG p.T101C Missense 1/2 - 1
5-137801754-GCA-TGG c.304_306delinsTGG p.A102W Missense 1/2 - 1
5-137801754-GCA-AAC c.304_306delinsAAC p.A102N Missense 1/2 - 1
5-137801754-G-T c.304G>T p.A102S Missense 1/2 - 1
5-137801754-GCA-TTT c.304_306delinsTTT p.A102F Missense 1/2 - 1
5-137801754-GCA-TGT c.304_306delinsTGT p.A102C Missense 1/2 - 2
5-137801754-G-A c.304G>A p.A102T Missense 1/2 - 1
5-137801755-CA-AC c.305_306delinsAC p.A102D Missense 1/2 - 1
5-137801755-C-A c.305C>A p.A102E Missense 1/2 - 1
5-137801755-C-G c.305C>G p.A102G Missense 1/2 - 1
5-137801755-C-T c.305C>T p.A102V Missense 1/2 - 1
5-137801757-G-T c.307G>T p.E103* Nonsense 1/2 - 1
5-137802404-C-T c.308-42C>T - IntronicSNV - 1/1 2
5-137802447-G-C c.309G>C p.E103D Missense 2/2 - 1
5-137802448-TC-CG c.310_311delinsCG p.S104R Missense 2/2 - 2
5-137802448-TC-GA c.310_311inv p.S104D Missense 2/2 - 1
5-137802448-T-G c.310T>G p.S104A Missense 2/2 - 2
5-137802449-C-G c.311C>G p.S104C Missense 2/2 - 1
5-137802450-T-C c.312T>C p.S104= Synonymous 2/2 - 1
5-137802451-TT-GC c.313_314delinsGC p.F105A Missense 2/2 - 1
5-137802452-T-C c.314T>C p.F105S Missense 2/2 - 1
5-137802452-TT-AA c.314_315inv p.F105* Nonsense 2/2 - 1
5-137802449-C-CT c.315dup p.P106Sfs*2 Frameshift 2/2 - 1
5-137802454-C-G c.316C>G p.P106A Missense 2/2 - 4
5-137802454-C-T c.316C>T p.P106S Missense 2/2 - 2
5-137802454-CC-GG c.316_317inv p.P106G Missense 2/2 - 1
5-137802455-C-T c.317C>T p.P106L Missense 2/2 - 2
5-137802455-C-A c.317C>A p.P106H Missense 2/2 - 1
5-137802456-T-C c.318T>C p.P106= Synonymous 2/2 - 2
5-137802456-T-G c.318T>G p.P106= Synonymous 2/2 - 1
5-137802456-T-A c.318T>A p.P106= Synonymous 2/2 - 1
5-137802457-G-A c.319G>A p.D107N Missense 2/2 - 1
5-137802457-GA-TG c.319_320delinsTG p.D107C Missense 2/2 - 1
5-137802458-A-T c.320A>T p.D107V Missense 2/2 - 2
5-137802458-A-C c.320A>C p.D107A Missense 2/2 - 1
5-137802461-T-C c.323T>C p.I108T Missense 2/2 - 1
5-137802461-T-G c.323T>G p.I108S Missense 2/2 - 1
5-137802461-T-A c.323T>A p.I108N Missense 2/2 - 2
5-137802462-C-A c.324C>A p.I108= Synonymous 2/2 - 1
5-137802461-T-TCA c.324_325insAC p.S109Tfs*3 Frameshift 2/2 - 1
5-137802463-T-G c.325T>G p.S109A Missense 2/2 - 5
5-137802463-TC-GA c.325_326inv p.S109D Missense 2/2 - 1
5-137802463-T-A c.325T>A p.S109T Missense 2/2 - 1
5-137802463-TC-CT c.325_326delinsCT p.S109L Missense 2/2 - 3
5-137802464-C-G c.326C>G p.S109C Missense 2/2 - 2
5-137802466-CT-GC c.328_329delinsGC p.L110A Missense 2/2 - 2
5-137802466-C-A c.328C>A p.L110M Missense 2/2 - 1
5-137802466-CT-AA c.328_329delinsAA p.L110K Missense 2/2 - 1
5-137802466-C-G c.328C>G p.L110V Missense 2/2 - 1
5-137802466-CTG-TTT c.328_330delinsTTT p.L110F Missense 2/2 - 1
5-137802466-CTG-TGT c.328_330delinsTGT p.L110C Missense 2/2 - 1
5-137802466-CTG-ATC c.328_330delinsATC p.L110I Missense 2/2 - 1
5-137802468-G-T c.330G>T p.L110= Synonymous 2/2 - 1
5-137802468-G-A c.330G>A p.L110= Synonymous 2/2 - 1
5-137802468-G-C c.330G>C p.L110= Synonymous 2/2 - 1
5-137802466-C-T c.328C>T p.L110= Synonymous 2/2 - 1
5-137802469-AA-GG c.331_332delinsGG p.N111G Missense 2/2 - 1
5-137802469-A-T c.331A>T p.N111Y Missense 2/2 - 1
5-137802469-A-C c.331A>C p.N111H Missense 2/2 - 1
5-137802469-A-G c.331A>G p.N111D Missense 2/2 - 1
5-137802470-A-G c.332A>G p.N111S Missense 2/2 - 2
5-137802471-C-T c.333C>T p.N111= Synonymous 2/2 - 1
5-137802471-C-G c.333C>G p.N111K Missense 2/2 - 1
5-137802471-C-A c.333C>A p.N111K Missense 2/2 - 1
5-137802472-A-G c.334A>G p.N112D Missense 2/2 - 1
5-137802475-G-C c.337G>C p.E113Q Missense 2/2 - 1
5-137802475-G-T c.337G>T p.E113* Nonsense 2/2 - 1
5-137802476-A-C c.338A>C p.E113A Missense 2/2 - 2
5-137802476-A-G c.338A>G p.E113G Missense 2/2 - 1
5-137802477-G-C c.339G>C p.E113D Missense 2/2 - 2
5-137802477-G-T c.339G>T p.E113D Missense 2/2 - 2
5-137802478-A-G c.340A>G p.K114E Missense 2/2 - 2
5-137802478-A-T c.340A>T p.K114* Nonsense 2/2 - 1
5-137802479-A-C c.341A>C p.K114T Missense 2/2 - 1
5-137802480-G-C c.342G>C p.K114N Missense 2/2 - 1
5-137802481-GTG-ATC c.343_345delinsATC p.V115I Missense 2/2 - 1
5-137802481-G-C c.343G>C p.V115L Missense 2/2 - 1
5-137802481-G-T c.343G>T p.V115L Missense 2/2 - 1
5-137802485-T-C c.347T>C p.L116P Missense 2/2 - 1
5-137802486-G-T c.348G>T p.L116= Synonymous 2/2 - 1
5-137802487-G-C c.349G>C p.V117L Missense 2/2 - 3
5-137802487-G-T c.349G>T p.V117L Missense 2/2 - 3
5-137802487-G-GC c.349_350insC p.V117Afs*99 Frameshift 2/2 - 1
5-137802488-T-C c.350T>C p.V117A Missense 2/2 - 3
5-137802488-T-A c.350T>A p.V117E Missense 2/2 - 1
5-137802490-G-T c.352G>T p.E118* Nonsense 2/2 - 2
5-137802490-GA-CC c.352_353delinsCC p.E118P Missense 2/2 - 2
5-137802491-A-C c.353A>C p.E118A Missense 2/2 - 1
5-137802491-A-T c.353A>T p.E118V Missense 2/2 - 1
5-137802492-G-C c.354G>C p.E118D Missense 2/2 - 2
5-137802492-G-T c.354G>T p.E118D Missense 2/2 - 1
5-137802493-AC-TG c.355_356delinsTG p.T119C Missense 2/2 - 1
5-137802493-A-C c.355A>C p.T119P Missense 2/2 - 1
5-137802494-CC-TG c.356_357delinsTG p.T119M Missense 2/2 - 8
5-137802496-AG-GC c.358_359delinsGC p.S120A Missense 2/2 - 5
5-137802496-A-T c.358A>T p.S120C Missense 2/2 - 5
5-137802496-AG-GA c.358_359delinsGA p.S120D Missense 2/2 - 1
5-137802496-AG-CC c.358_359delinsCC p.S120P Missense 2/2 - 1
5-137802496-A-G c.358A>G p.S120G Missense 2/2 - 1
5-137802497-G-A c.359G>A p.S120N Missense 2/2 - 1
5-137802498-T-C c.360T>C p.S120= Synonymous 2/2 - 1
5-137802498-T-A c.360T>A p.S120R Missense 2/2 - 1
5-137802499-T-C c.361T>C p.Y121H Missense 2/2 - 2
5-137802499-TA-GC c.361_362delinsGC p.Y121A Missense 2/2 - 1
5-137802499-T-A c.361T>A p.Y121N Missense 2/2 - 1
5-137802500-A-T c.362A>T p.Y121F Missense 2/2 - 10
5-137802501-C-A c.363C>A p.Y121* Nonsense 2/2 - 1
5-137802501-C-G c.363C>G p.Y121* Nonsense 2/2 - 1
5-137802502-C-T c.364C>T p.P122S Missense 2/2 - 2
5-137802504-C-T c.366C>T p.P122= Synonymous 2/2 - 1
5-137802505-AG-GC c.367_368delinsGC p.S123A Missense 2/2 - 2
5-137802505-A-T c.367A>T p.S123C Missense 2/2 - 1
5-137802505-AG-GA c.367_368delinsGA p.S123D Missense 2/2 - 1
5-137802505-AG-CC c.367_368delinsCC p.S123P Missense 2/2 - 2
5-137802503-CCAG-C c.367_369del p.S123del InFrameDeletion 2/2 - 1
5-137802506-G-A c.368G>A p.S123N Missense 2/2 - 1
5-137802506-G-C c.368G>C p.S123T Missense 2/2 - 1
5-137802507-C-G c.369C>G p.S123R Missense 2/2 - 1
5-137802507-C-A c.369C>A p.S123R Missense 2/2 - 1
5-137802505-A-C c.367A>C p.S123R Missense 2/2 - 1
5-137802507-C-T c.369C>T p.S123= Synonymous 2/2 - 1
5-137802509-A-C c.371A>C p.Q124P Missense 2/2 - 1
5-137802509-A-T c.371A>T p.Q124L Missense 2/2 - 1
5-137802510-A-T c.372A>T p.Q124H Missense 2/2 - 1
5-137802510-A-C c.372A>C p.Q124H Missense 2/2 - 1
5-137802511-A-G c.373A>G p.T125A Missense 2/2 - 1
5-137802512-CC-AG c.374_375delinsAG p.T125K Missense 2/2 - 2
5-137802512-C-T c.374C>T p.T125I Missense 2/2 - 2
5-137802512-C-G c.374C>G p.T125S Missense 2/2 - 1
5-137802512-C-A c.374C>A p.T125N Missense 2/2 - 1
5-137802513-C-A c.375C>A p.T125= Synonymous 2/2 - 1
5-137802513-C-G c.375C>G p.T125= Synonymous 2/2 - 1
5-137802513-C-T c.375C>T p.T125= Synonymous 2/2 - 2
5-137802514-A-C c.376A>C p.T126P Missense 2/2 - 1
5-137802514-A-G c.376A>G p.T126A Missense 2/2 - 3
5-137802512-CCA-C c.376_377del p.T126Sfs*89 Frameshift 2/2 - 1
5-137802514-AC-GA c.376_377delinsGA p.T126D Missense 2/2 - 1
5-137802516-T-A c.378T>A p.T126= Synonymous 2/2 - 1
5-137802516-T-G c.378T>G p.T126= Synonymous 2/2 - 1
5-137802516-T-C c.378T>C p.T126= Synonymous 2/2 - 1
5-137802517-C-G c.379C>G p.R127G Missense 2/2 - 1
5-137802517-CG-GC c.379_380delinsGC p.R127A Missense 2/2 - 1
5-137802517-CG-AA c.379_380delinsAA p.R127K Missense 2/2 - 1
5-137802517-CGA-AAC c.379_381delinsAAC p.R127N Missense 2/2 - 1
5-137802518-G-C c.380G>C p.R127P Missense 2/2 - 1
5-137802518-GA-AT c.380_381delinsAT p.R127H Missense 2/2 - 2
5-137802519-A-C c.381A>C p.R127= Synonymous 2/2 - 1
5-137802520-CTG-ATC c.382_384delinsATC p.L128I Missense 2/2 - 1
5-137802522-G-C c.384G>C p.L128= Synonymous 2/2 - 2
5-137802522-G-T c.384G>T p.L128= Synonymous 2/2 - 1
5-137802522-G-A c.384G>A p.L128= Synonymous 2/2 - 1
5-137802520-C-T c.382C>T p.L128= Synonymous 2/2 - 1
5-137802523-CC-TG c.385_386delinsTG p.P129C Missense 2/2 - 1
5-137802523-C-G c.385C>G p.P129A Missense 2/2 - 1
5-137802523-C-T c.385C>T p.P129S Missense 2/2 - 2
5-137802524-C-T c.386C>T p.P129L Missense 2/2 - 2
5-137802526-C-T c.388C>T p.P130S Missense 2/2 - 1
5-137802527-C-A c.389C>A p.P130H Missense 2/2 - 1
5-137802527-C-G c.389C>G p.P130R Missense 2/2 - 1
5-137802527-CC-AA c.389_390delinsAA p.P130Q Missense 2/2 - 1
5-137802522-GC-G c.390del p.I131Sfs*31 Frameshift 2/2 - 1
5-137802529-ATC-TAA c.391_393delinsTAA p.I131* Nonsense 2/2 - 1
5-137802529-A-G c.391A>G p.I131V Missense 2/2 - 1
5-137802530-T-C c.392T>C p.I131T Missense 2/2 - 2
5-137802531-C-T c.393C>T p.I131= Synonymous 2/2 - 1
5-137802531-C-G c.393C>G p.I131M Missense 2/2 - 1
5-137802532-AC-TA c.394_395delinsTA p.T132Y Missense 2/2 - 1
5-137802532-A-C c.394A>C p.T132P Missense 2/2 - 1
5-137802532-AC-GA c.394_395delinsGA p.T132D Missense 2/2 - 1
5-137802532-A-G c.394A>G p.T132A Missense 2/2 - 1
5-137802533-C-G c.395C>G p.T132S Missense 2/2 - 1
5-137802532-A-T c.394A>T p.T132S Missense 2/2 - 1
5-137802532-AC-A c.396del p.Y133Ifs*29 Frameshift 2/2 - 1
5-137802535-T-G c.397T>G p.Y133D Missense 2/2 - 1
5-137802536-A-T c.398A>T p.Y133F Missense 2/2 - 2
5-137802536-A-G c.398A>G p.Y133C Missense 2/2 - 1
5-137802538-AC-TA c.400_401delinsTA p.T134Y Missense 2/2 - 1
5-137802538-AC-TG c.400_401delinsTG p.T134C Missense 2/2 - 2
5-137802538-ACT-GAG c.400_402delinsGAG p.T134E Missense 2/2 - 1
5-137802538-A-G c.400A>G p.T134A Missense 2/2 - 4
5-137802538-AC-GT c.400_401inv p.T134V Missense 2/2 - 1
5-137802538-A-C c.400A>C p.T134P Missense 2/2 - 1
5-137802541-G-A c.403G>A p.G135S Missense 2/2 - 1
5-137802541-G-T c.403G>T p.G135C Missense 2/2 - 2
5-137802542-GC-AG c.404_405delinsAG p.G135E Missense 2/2 - 1
5-137802543-C-T c.405C>T p.G135= Synonymous 2/2 - 1
5-137802543-C-A c.405C>A p.G135= Synonymous 2/2 - 1
5-137802544-CGC-AAG c.406_408delinsAAG p.R136K Missense 2/2 - 2
5-137802544-C-A c.406C>A p.R136S Missense 2/2 - 4
5-137802544-C-T c.406C>T p.R136C Missense 2/2 - 3
5-137802542-G-GC c.406dup p.R136Pfs*80 Frameshift 2/2 - 1
5-137802544-CGC-TGG c.406_408delinsTGG p.R136W Missense 2/2 - 1
5-137802547-T-C c.409T>C p.F137L Missense 2/2 - 3
5-137802549-T-A c.411T>A p.F137L Missense 2/2 - 3
5-137802549-T-G c.411T>G p.F137L Missense 2/2 - 3
5-137802548-T-A c.410T>A p.F137Y Missense 2/2 - 1
5-137802546-CTT-C c.411_412del p.S138Pfs*77 Frameshift 2/2 - 1
5-137802550-TC-AA c.412_413delinsAA p.S138N Missense 2/2 - 5
5-137802550-TC-GA c.412_413inv p.S138D Missense 2/2 - 1
5-137802550-T-G c.412T>G p.S138A Missense 2/2 - 5
5-137802550-T-A c.412T>A p.S138T Missense 2/2 - 1
5-137802551-C-G c.413C>G p.S138C Missense 2/2 - 1
5-137802553-CTG-TGT c.415_417delinsTGT p.L139C Missense 2/2 - 1
5-137802553-CTG-ATC c.415_417delinsATC p.L139I Missense 2/2 - 1
5-137802553-CTG-TTT c.415_417delinsTTT p.L139F Missense 2/2 - 1
5-137802554-T-G c.416T>G p.L139R Missense 2/2 - 1
5-137802555-G-T c.417G>T p.L139= Synonymous 2/2 - 4
5-137802555-G-A c.417G>A p.L139= Synonymous 2/2 - 4
5-137802555-G-C c.417G>C p.L139= Synonymous 2/2 - 4
5-137802553-C-T c.415C>T p.L139= Synonymous 2/2 - 5
5-137802556-G-C c.418G>C p.E140Q Missense 2/2 - 2
5-137802556-G-T c.418G>T p.E140* Nonsense 2/2 - 2
5-137802557-A-G c.419A>G p.E140G Missense 2/2 - 2
5-137802559-C-G c.421C>G p.P141A Missense 2/2 - 1
5-137802559-CC-GG c.421_422inv p.P141G Missense 2/2 - 1
5-137802560-C-T c.422C>T p.P141L Missense 2/2 - 1
5-137802562-GCA-TGT c.424_426delinsTGT p.A142C Missense 2/2 - 1
5-137802562-G-A c.424G>A p.A142T Missense 2/2 - 3
5-137802562-G-T c.424G>T p.A142S Missense 2/2 - 1
5-137802562-GC-AG c.424_425delinsAG p.A142R Missense 2/2 - 1
5-137802564-A-C c.426A>C p.A142= Synonymous 2/2 - 1
5-137802564-A-G c.426A>G p.A142= Synonymous 2/2 - 1
5-137802564-A-T c.426A>T p.A142= Synonymous 2/2 - 1
5-137802565-C-T c.427C>T p.P143S Missense 2/2 - 2
5-137802566-C-T c.428C>T p.P143L Missense 2/2 - 1
5-137802568-AAC-TGG c.430_432delinsTGG p.N144W Missense 2/2 - 1
5-137802568-AA-GC c.430_431delinsGC p.N144A Missense 2/2 - 1
5-137802569-A-G c.431A>G p.N144S Missense 2/2 - 3
5-137802570-C-A c.432C>A p.N144K Missense 2/2 - 1
5-137802571-A-G c.433A>G p.S145G Missense 2/2 - 1
5-137802571-A-T c.433A>T p.S145C Missense 2/2 - 1
5-137802571-AG-GA c.433_434delinsGA p.S145D Missense 2/2 - 2
5-137802571-AG-GC c.433_434delinsGC p.S145A Missense 2/2 - 4
5-137802571-AG-GT c.433_434delinsGT p.S145V Missense 2/2 - 1
5-137802572-G-A c.434G>A p.S145N Missense 2/2 - 1
5-137802573-T-C c.435T>C p.S145= Synonymous 2/2 - 1
5-137802574-G-A c.436G>A p.G146S Missense 2/2 - 1
5-137802575-G-T c.437G>T p.G146V Missense 2/2 - 2
5-137802576-C-G c.438C>G p.G146= Synonymous 2/2 - 1
5-137802577-A-G c.439A>G p.N147D Missense 2/2 - 1
5-137802578-A-G c.440A>G p.N147S Missense 2/2 - 2
5-137802578-A-AT c.440_441insT p.T148Hfs*68 Frameshift 2/2 - 1
5-137802580-A-G c.442A>G p.T148A Missense 2/2 - 1
5-137802581-C-G c.443C>G p.T148S Missense 2/2 - 1
5-137802580-A-T c.442A>T p.T148S Missense 2/2 - 2
5-137802581-C-T c.443C>T p.T148I Missense 2/2 - 1
5-137802582-C-G c.444C>G p.T148= Synonymous 2/2 - 1
5-137802582-C-A c.444C>A p.T148= Synonymous 2/2 - 1
5-137802583-TT-AG c.445_446delinsAG p.L149R Missense 2/2 - 1
5-137802584-T-A c.446T>A p.L149* Nonsense 2/2 - 2
5-137802586-T-G c.448T>G p.W150G Missense 2/2 - 1
5-137802586-T-C c.448T>C p.W150R Missense 2/2 - 1
5-137802587-G-C c.449G>C p.W150S Missense 2/2 - 1
5-137802589-C-T c.451C>T p.P151S Missense 2/2 - 1
5-137802590-C-T c.452C>T p.P151L Missense 2/2 - 2
5-137802591-C-T c.453C>T p.P151= Synonymous 2/2 - 1
5-137802592-GA-TC c.454_455inv p.E152S Missense 2/2 - 3
5-137802592-GA-AG c.454_455delinsAG p.E152R Missense 2/2 - 1
5-137802592-G-C c.454G>C p.E152Q Missense 2/2 - 1
5-137802593-A-C c.455A>C p.E152A Missense 2/2 - 1
5-137802595-C-T c.457C>T p.P153S Missense 2/2 - 2
5-137802595-C-G c.457C>G p.P153A Missense 2/2 - 1
5-137802596-C-T c.458C>T p.P153L Missense 2/2 - 1
5-137802598-C-T c.460C>T p.L154F Missense 2/2 - 1
5-137802598-CTC-ATG c.460_462delinsATG p.L154M Missense 2/2 - 1
5-137802598-C-A c.460C>A p.L154I Missense 2/2 - 1
5-137802599-T-G c.461T>G p.L154R Missense 2/2 - 1
5-137802599-T-C c.461T>C p.L154P Missense 2/2 - 1
5-137802600-C-CT c.464dup p.S156Qfs*60 Frameshift 2/2 - 1
5-137802603-C-T c.465C>T p.F155= Synonymous 2/2 - 1
5-137802604-AG-GC c.466_467delinsGC p.S156A Missense 2/2 - 1
5-137802604-A-T c.466A>T p.S156C Missense 2/2 - 3
5-137802604-AG-GA c.466_467delinsGA p.S156D Missense 2/2 - 1
5-137802604-A-G c.466A>G p.S156G Missense 2/2 - 1
5-137802606-C-T c.468C>T p.S156= Synonymous 2/2 - 1
5-137802606-C-G c.468C>G p.S156R Missense 2/2 - 1
5-137802606-C-A c.468C>A p.S156R Missense 2/2 - 1
5-137802604-A-C c.466A>C p.S156R Missense 2/2 - 1
5-137802607-TT-GG c.469_470delinsGG p.L157G Missense 2/2 - 1
5-137802610-GTC-ATG c.472_474delinsATG p.V158M Missense 2/2 - 6
5-137802610-G-A c.472G>A p.V158I Missense 2/2 - 1
5-137802610-G-T c.472G>T p.V158F Missense 2/2 - 3
5-137802610-GT-AG c.472_473delinsAG p.V158S Missense 2/2 - 1
5-137802610-G-C c.472G>C p.V158L Missense 2/2 - 1
5-137802611-T-A c.473T>A p.V158D Missense 2/2 - 1
5-137802612-C-T c.474C>T p.V158= Synonymous 2/2 - 1
5-137802612-C-CT c.474_475insT p.S159* Nonsense 2/2 - 1
5-137802613-AG-GC c.475_476delinsGC p.S159A Missense 2/2 - 4
5-137802613-A-T c.475A>T p.S159C Missense 2/2 - 1
5-137802613-AG-GA c.475_476delinsGA p.S159D Missense 2/2 - 1
5-137802613-AGT-GAG c.475_477delinsGAG p.S159E Missense 2/2 - 1
5-137802613-AG-CT c.475_476inv p.S159L Missense 2/2 - 2
5-137802615-T-G c.477T>G p.S159R Missense 2/2 - 1
5-137802615-T-A c.477T>A p.S159R Missense 2/2 - 1
5-137802613-A-C c.475A>C p.S159R Missense 2/2 - 2
5-137802615-T-C c.477T>C p.S159= Synonymous 2/2 - 1
5-137802616-G-C c.478G>C p.G160R Missense 2/2 - 1
5-137802616-G-A c.478G>A p.G160S Missense 2/2 - 1
5-137802617-G-T c.479G>T p.G160V Missense 2/2 - 1
5-137802619-C-T c.481C>T p.L161= Synonymous 2/2 - 2
5-137802622-G-T c.484G>T p.V162L Missense 2/2 - 1
5-137802622-G-A c.484G>A p.V162M Missense 2/2 - 1
5-137802622-GT-TC c.484_485delinsTC p.V162S Missense 2/2 - 1
5-137802623-T-C c.485T>C p.V162A Missense 2/2 - 5
5-137802624-G-A c.486G>A p.V162= Synonymous 2/2 - 2
5-137802624-G-C c.486G>C p.V162= Synonymous 2/2 - 1
5-137802624-G-T c.486G>T p.V162= Synonymous 2/2 - 1
5-137802625-AG-GC c.487_488delinsGC p.S163A Missense 2/2 - 3
5-137802625-A-T c.487A>T p.S163C Missense 2/2 - 1
5-137802625-AG-GA c.487_488delinsGA p.S163D Missense 2/2 - 1
5-137802625-AG-CT c.487_488inv p.S163L Missense 2/2 - 1
5-137802626-G-C c.488G>C p.S163T Missense 2/2 - 1
5-137802627-C-T c.489C>T p.S163= Synonymous 2/2 - 1
5-137802628-AT-GG c.490_491delinsGG p.M164G Missense 2/2 - 1
5-137802628-AT-GC c.490_491delinsGC p.M164A Missense 2/2 - 1
5-137802630-G-A c.492G>A p.M164I Missense 2/2 - 1
5-137802631-A-G c.493A>G p.T165A Missense 2/2 - 1
5-137802631-AC-CT c.493_494delinsCT p.T165L Missense 2/2 - 2
5-137802631-ACC-TGG c.493_495delinsTGG p.T165W Missense 2/2 - 1
5-137802632-CC-GG c.494_495inv p.T165R Missense 2/2 - 1
5-137802632-C-T c.494C>T p.T165I Missense 2/2 - 1
5-137802633-C-T c.495C>T p.T165= Synonymous 2/2 - 1
5-137802635-A-T c.497A>T p.N166I Missense 2/2 - 1
5-137802633-CA-C c.497del p.N166Tfs*25 Frameshift 2/2 - 1
5-137802637-C-T c.499C>T p.P167S Missense 2/2 - 2
5-137802637-CC-GG c.499_500inv p.P167G Missense 2/2 - 1
5-137802640-C-G c.502C>G p.P168A Missense 2/2 - 4
5-137802640-C-T c.502C>T p.P168S Missense 2/2 - 4
5-137802640-C-A c.502C>A p.P168T Missense 2/2 - 1
5-137802641-C-G c.503C>G p.P168R Missense 2/2 - 1
5-137802641-C-T c.503C>T p.P168L Missense 2/2 - 1
5-137802642-G-T c.504G>T p.P168= Synonymous 2/2 - 1
5-137802642-G-A c.504G>A p.P168= Synonymous 2/2 - 1
5-137802643-GC-CT c.505_506delinsCT p.A169L Missense 2/2 - 1
5-137802643-GC-AT c.505_506delinsAT p.A169I Missense 2/2 - 1
5-137802644-C-A c.506C>A p.A169D Missense 2/2 - 1
5-137802645-C-T c.507C>T p.A169= Synonymous 2/2 - 1
5-137802646-T-C c.508T>C p.S170P Missense 2/2 - 1
5-137802646-T-G c.508T>G p.S170A Missense 2/2 - 3
5-137802646-TC-GA c.508_509inv p.S170D Missense 2/2 - 1
5-137802646-TC-AA c.508_509delinsAA p.S170N Missense 2/2 - 3
5-137802647-C-T c.509C>T p.S170F Missense 2/2 - 1
5-137802647-C-CA c.509_510insA p.S171Lfs*45 Frameshift 2/2 - 1
5-137802647-C-G c.509C>G p.S170C Missense 2/2 - 1
5-137802648-C-A c.510C>A p.S170= Synonymous 2/2 - 1
5-137802646-TC-T c.510del p.S171Rfs*20 Frameshift 2/2 - 1
5-137802648-C-CT c.511dup p.S171Ffs*45 Frameshift 2/2 - 1
5-137802649-T-G c.511T>G p.S171A Missense 2/2 - 4
5-137802649-TCG-GAC c.511_513delinsGAC p.S171D Missense 2/2 - 1
5-137802650-CG-TT c.512_513delinsTT p.S171F Missense 2/2 - 1
5-137802650-C-T c.512C>T p.S171L Missense 2/2 - 5
5-137802650-CG-GT c.512_513delinsGT p.S171C Missense 2/2 - 1
5-137802651-G-T c.513G>T p.S171= Synonymous 2/2 - 2
5-137802651-G-C c.513G>C p.S171= Synonymous 2/2 - 3
5-137802651-G-A c.513G>A p.S171= Synonymous 2/2 - 2
5-137802652-T-G c.514T>G p.S172A Missense 2/2 - 4
5-137802652-TC-GA c.514_515inv p.S172D Missense 2/2 - 2
5-137802653-C-T c.515C>T p.S172F Missense 2/2 - 1
5-137802653-C-G c.515C>G p.S172C Missense 2/2 - 2
5-137802655-T-G c.517T>G p.S173A Missense 2/2 - 6
5-137802655-TCA-GAC c.517_519delinsGAC p.S173D Missense 2/2 - 2
5-137802655-TC-AG c.517_518delinsAG p.S173R Missense 2/2 - 1
5-137802656-CA-GT c.518_519delinsGT p.S173C Missense 2/2 - 1
5-137802656-C-A c.518C>A p.S173* Nonsense 2/2 - 1
5-137802656-C-G c.518C>G p.S173* Nonsense 2/2 - 2
5-137802657-A-G c.519A>G p.S173= Synonymous 2/2 - 2
5-137802657-A-T c.519A>T p.S173= Synonymous 2/2 - 1
5-137802657-A-C c.519A>C p.S173= Synonymous 2/2 - 1
5-137802658-G-T c.520G>T p.A174S Missense 2/2 - 1
5-137802658-GC-TA c.520_521delinsTA p.A174* Nonsense 2/2 - 1
5-137802658-GC-AT c.520_521delinsAT p.A174I Missense 2/2 - 1
5-137802661-C-T c.523C>T p.P175S Missense 2/2 - 2
5-137802662-C-T c.524C>T p.P175L Missense 2/2 - 1
5-137802663-A-T c.525A>T p.P175= Synonymous 2/2 - 1
5-137802663-A-G c.525A>G p.P175= Synonymous 2/2 - 1
5-137802663-A-C c.525A>C p.P175= Synonymous 2/2 - 2
5-137802663-CA-C c.525del p.S176Lfs*15 Frameshift 2/2 - 1
5-137802664-TC-GA c.526_527inv p.S176D Missense 2/2 - 4
5-137802664-T-G c.526T>G p.S176A Missense 2/2 - 2
5-137802664-TCT-AAG c.526_528delinsAAG p.S176K Missense 2/2 - 1
5-137802664-TC-GT c.526_527delinsGT p.S176V Missense 2/2 - 1
5-137802664-T-C c.526T>C p.S176P Missense 2/2 - 1
5-137802665-C-A c.527C>A p.S176Y Missense 2/2 - 1
5-137802665-C-G c.527C>G p.S176C Missense 2/2 - 1
5-137802665-CT-GG c.527_528delinsGG p.S176W Missense 2/2 - 1
5-137802665-C-T c.527C>T p.S176F Missense 2/2 - 1
5-137802666-T-C c.528T>C p.S176= Synonymous 2/2 - 1
5-137802666-T-G c.528T>G p.S176= Synonymous 2/2 - 1
5-137802666-T-A c.528T>A p.S176= Synonymous 2/2 - 1
5-137802667-C-T c.529C>T p.P177S Missense 2/2 - 1
5-137802668-C-A c.530C>A p.P177Q Missense 2/2 - 1
5-137802669-A-T c.531A>T p.P177= Synonymous 2/2 - 1
5-137802669-CA-C c.531del p.A178Rfs*13 Frameshift 2/2 - 1
5-137802670-G-C c.532G>C p.A178P Missense 2/2 - 2
5-137802670-G-A c.532G>A p.A178T Missense 2/2 - 2
5-137802670-G-T c.532G>T p.A178S Missense 2/2 - 1
5-137802673-GC-AT c.535_536delinsAT p.A179I Missense 2/2 - 1
5-137802673-G-A c.535G>A p.A179T Missense 2/2 - 1
5-137802673-GC-CT c.535_536delinsCT p.A179L Missense 2/2 - 2
5-137802674-C-G c.536C>G p.A179G Missense 2/2 - 1
5-137802676-T-G c.538T>G p.S180A Missense 2/2 - 3
5-137802676-TC-GA c.538_539inv p.S180D Missense 2/2 - 1
5-137802676-TC-AA c.538_539delinsAA p.S180N Missense 2/2 - 1
5-137802676-TCC-GAG c.538_540delinsGAG p.S180E Missense 2/2 - 1
5-137802677-C-G c.539C>G p.S180C Missense 2/2 - 1
5-137802679-TC-GA c.541_542inv p.S181D Missense 2/2 - 1
5-137802679-T-G c.541T>G p.S181A Missense 2/2 - 3
5-137802679-T-C c.541T>C p.S181P Missense 2/2 - 1
5-137802680-C-G c.542C>G p.S181C Missense 2/2 - 2
5-137802681-C-T c.543C>T p.S181= Synonymous 2/2 - 1
5-137802681-C-G c.543C>G p.S181= Synonymous 2/2 - 1
5-137802681-C-A c.543C>A p.S181= Synonymous 2/2 - 1
5-137802682-GC-TG c.544_545delinsTG p.A182C Missense 2/2 - 1
5-137802684-C-T c.546C>T p.A182= Synonymous 2/2 - 2
5-137802685-T-C c.547T>C p.S183P Missense 2/2 - 2
5-137802685-T-G c.547T>G p.S183A Missense 2/2 - 2
5-137802685-TC-GA c.547_548inv p.S183D Missense 2/2 - 1
5-137802685-TCC-AAG c.547_549delinsAAG p.S183K Missense 2/2 - 1
5-137802685-T-A c.547T>A p.S183T Missense 2/2 - 1
5-137802686-C-A c.548C>A p.S183Y Missense 2/2 - 2
5-137802686-C-G c.548C>G p.S183C Missense 2/2 - 1
5-137802686-C-T c.548C>T p.S183F Missense 2/2 - 1
5-137802687-C-T c.549C>T p.S183= Synonymous 2/2 - 1
5-137802687-C-G c.549C>G p.S183= Synonymous 2/2 - 1
5-137802687-C-A c.549C>A p.S183= Synonymous 2/2 - 1
5-137802688-G-T c.550G>T p.A184S Missense 2/2 - 2
5-137802688-GC-TG c.550_551delinsTG p.A184C Missense 2/2 - 1
5-137802688-GCC-AAG c.550_552delinsAAG p.A184K Missense 2/2 - 1
5-137802688-GC-CT c.550_551delinsCT p.A184L Missense 2/2 - 1
5-137802689-C-T c.551C>T p.A184V Missense 2/2 - 3
5-137802689-C-A c.551C>A p.A184D Missense 2/2 - 2
5-137802690-C-G c.552C>G p.A184= Synonymous 2/2 - 1
5-137802688-GC-G c.552del p.S185Pfs*6 Frameshift 2/2 - 1
5-137802690-C-A c.552C>A p.A184= Synonymous 2/2 - 1
5-137802691-T-A c.553T>A p.S185T Missense 2/2 - 1
5-137802691-T-G c.553T>G p.S185A Missense 2/2 - 5
5-137802691-TC-AA c.553_554delinsAA p.S185N Missense 2/2 - 1
5-137802691-TC-GA c.553_554inv p.S185D Missense 2/2 - 1
5-137802692-C-G c.554C>G p.S185C Missense 2/2 - 1
5-137802693-C-T c.555C>T p.S185= Synonymous 2/2 - 1
5-137802697-A-T c.559A>T p.S187C Missense 2/2 - 2
5-137802699-C-A c.561C>A p.S187R Missense 2/2 - 1
5-137802700-CCA-TGT c.562_564delinsTGT p.P188C Missense 2/2 - 1
5-137802700-C-T c.562C>T p.P188S Missense 2/2 - 1
5-137802700-CC-TA c.562_563delinsTA p.P188* Nonsense 2/2 - 1
5-137802701-C-G c.563C>G p.P188R Missense 2/2 - 1
5-137802703-CC-TG c.565_566delinsTG p.P189C Missense 2/2 - 1
5-137802703-C-G c.565C>G p.P189A Missense 2/2 - 1
5-137802704-C-T c.566C>T p.P189L Missense 2/2 - 3
5-137802705-C-T c.567C>T p.P189= Synonymous 2/2 - 1
5-137802706-C-T c.568C>T p.L190= Synonymous 2/2 - 1
5-137802706-C-A c.568C>A p.L190M Missense 2/2 - 1
5-137802706-CT-GC c.568_569delinsGC p.L190A Missense 2/2 - 1
5-137802706-CT-TC c.568_569delinsTC p.L190S Missense 2/2 - 1
5-137802707-T-G c.569T>G p.L190R Missense 2/2 - 1
5-137802709-AG-GC c.571_572delinsGC p.S191A Missense 2/2 - 1
5-137802709-A-T c.571A>T p.S191C Missense 2/2 - 1
5-137802709-AG-GA c.571_572delinsGA p.S191D Missense 2/2 - 1
5-137802709-A-G c.571A>G p.S191G Missense 2/2 - 1
5-137802709-AGC-TGG c.571_573delinsTGG p.S191W Missense 2/2 - 1
5-137802709-AG-CC c.571_572delinsCC p.S191P Missense 2/2 - 1
5-137802710-G-A c.572G>A p.S191N Missense 2/2 - 1
5-137802712-TGC-ATG c.574_576delinsATG p.C192M Missense 2/2 - 6
5-137802712-T-C c.574T>C p.C192R Missense 2/2 - 2
5-137802712-TG-GC c.574_575delinsGC p.C192A Missense 2/2 - 2
5-137802714-C-T c.576C>T p.C192= Synonymous 2/2 - 1
5-137802715-GCA-TTT c.577_579delinsTTT p.A193F Missense 2/2 - 1
5-137802715-GCA-AAC c.577_579delinsAAC p.A193N Missense 2/2 - 1
5-137802715-GCA-TGT c.577_579delinsTGT p.A193C Missense 2/2 - 1
5-137802717-A-G c.579A>G p.A193= Synonymous 2/2 - 1
5-137802718-GTG-ATC c.580_582delinsATC p.V194I Missense 2/2 - 1
5-137802718-GT-TC c.580_581delinsTC p.V194S Missense 2/2 - 1
5-137802718-G-C c.580G>C p.V194L Missense 2/2 - 1
5-137802719-T-A c.581T>A p.V194E Missense 2/2 - 1
5-137802720-G-A c.582G>A p.V194= Synonymous 2/2 - 1
5-137802722-C-T c.584C>T p.P195L Missense 2/2 - 2
5-137802724-T-G c.586T>G p.S196A Missense 2/2 - 2
5-137802724-TC-GA c.586_587inv p.S196D Missense 2/2 - 1
5-137802724-T-C c.586T>C p.S196P Missense 2/2 - 2
5-137802725-C-G c.587C>G p.S196C Missense 2/2 - 1
5-137802725-C-T c.587C>T p.S196F Missense 2/2 - 1
5-137802727-AA-GC c.589_590delinsGC p.N197A Missense 2/2 - 2
5-137802727-A-G c.589A>G p.N197D Missense 2/2 - 1
5-137802727-AA-TG c.589_590delinsTG p.N197C Missense 2/2 - 1
5-137802728-A-G c.590A>G p.N197S Missense 2/2 - 1
5-137802728-A-C c.590A>C p.N197T Missense 2/2 - 1
5-137802729-C-G c.591C>G p.N197K Missense 2/2 - 2
5-137802729-C-A c.591C>A p.N197K Missense 2/2 - 2
5-137802729-C-T c.591C>T p.N197= Synonymous 2/2 - 1
5-137802730-G-A c.592G>A p.D198N Missense 2/2 - 1
5-137802730-GAC-AAG c.592_594delinsAAG p.D198K Missense 2/2 - 1
5-137802730-G-C c.592G>C p.D198H Missense 2/2 - 1
5-137802731-A-C c.593A>C p.D198A Missense 2/2 - 2
5-137802731-A-G c.593A>G p.D198G Missense 2/2 - 2
5-137802732-C-T c.594C>T p.D198= Synonymous 2/2 - 1
5-137802733-AG-CT c.595_596inv p.S199L Missense 2/2 - 2
5-137802733-A-T c.595A>T p.S199C Missense 2/2 - 2
5-137802733-AG-GC c.595_596delinsGC p.S199A Missense 2/2 - 1
5-137802733-AG-GA c.595_596delinsGA p.S199D Missense 2/2 - 1
5-137802733-AG-CC c.595_596delinsCC p.S199P Missense 2/2 - 2
5-137802733-AGC-TGA c.595_597delinsTGA p.S199* Nonsense 2/2 - 1
5-137802733-AG-TT c.595_596delinsTT p.S199F Missense 2/2 - 1
5-137802734-G-A c.596G>A p.S199N Missense 2/2 - 1
5-137802736-AG-GC c.598_599delinsGC p.S200A Missense 2/2 - 6
5-137802736-AG-GA c.598_599delinsGA p.S200D Missense 2/2 - 1
5-137802736-A-T c.598A>T p.S200C Missense 2/2 - 1
5-137802736-A-G c.598A>G p.S200G Missense 2/2 - 1
5-137802739-C-T c.601C>T p.P201S Missense 2/2 - 1
5-137802739-CC-TG c.601_602delinsTG p.P201C Missense 2/2 - 1
5-137802740-C-A c.602C>A p.P201H Missense 2/2 - 1
5-137802741-C-T c.603C>T p.P201= Synonymous 2/2 - 2
5-137802741-C-A c.603C>A p.P201= Synonymous 2/2 - 2
5-137802742-A-G c.604A>G p.I202V Missense 2/2 - 1
5-137802742-AT-GC c.604_605delinsGC p.I202A Missense 2/2 - 1
5-137802742-A-T c.604A>T p.I202F Missense 2/2 - 1
5-137802742-ATT-TGG c.604_606delinsTGG p.I202W Missense 2/2 - 1
5-137802743-T-A c.605T>A p.I202N Missense 2/2 - 1
5-137802744-T-C c.606T>C p.I202= Synonymous 2/2 - 1
5-137802745-T-C c.607T>C p.Y203H Missense 2/2 - 1
5-137802747-C-T c.609C>T p.Y203= Synonymous 2/2 - 1
5-137802748-T-G c.610T>G p.S204A Missense 2/2 - 1
5-137802748-TCA-GAC c.610_612delinsGAC p.S204D Missense 2/2 - 1
5-137802748-TCA-CAT c.610_612delinsCAT p.S204H Missense 2/2 - 1
5-137802748-TCA-AAC c.610_612delinsAAC p.S204N Missense 2/2 - 1
5-137802749-CA-GT c.611_612delinsGT p.S204C Missense 2/2 - 1
5-137802751-AG-A c.613del p.A205Rfs*47 Frameshift 2/2 - 1
5-137802751-G-C c.613G>C p.A205P Missense 2/2 - 2
5-137802753-G-A c.615G>A p.A205= Synonymous 2/2 - 1
5-137802753-G-C c.615G>C p.A205= Synonymous 2/2 - 1
5-137802753-G-T c.615G>T p.A205= Synonymous 2/2 - 1
5-137802754-GC-AA c.616_617delinsAA p.A206K Missense 2/2 - 16
5-137802754-G-C c.616G>C p.A206P Missense 2/2 - 1
5-137802754-G-A c.616G>A p.A206T Missense 2/2 - 1
5-137802754-GC-CT c.616_617delinsCT p.A206L Missense 2/2 - 1
5-137802755-C-A c.617C>A p.A206E Missense 2/2 - 1
5-137802755-C-T c.617C>T p.A206V Missense 2/2 - 3
5-137802757-C-T c.619C>T p.P207S Missense 2/2 - 1
5-137802757-C-A c.619C>A p.P207T Missense 2/2 - 1
5-137802758-C-T c.620C>T p.P207L Missense 2/2 - 1
5-137802759-C-T c.621C>T p.P207= Synonymous 2/2 - 1
5-137802759-C-G c.621C>G p.P207= Synonymous 2/2 - 1
5-137802759-C-A c.621C>A p.P207= Synonymous 2/2 - 1
5-137802760-ACC-GAG c.622_624delinsGAG p.T208E Missense 2/2 - 1
5-137802760-A-C c.622A>C p.T208P Missense 2/2 - 1
5-137802760-A-G c.622A>G p.T208A Missense 2/2 - 1
5-137802761-C-G c.623C>G p.T208S Missense 2/2 - 1
5-137802760-A-T c.622A>T p.T208S Missense 2/2 - 1
5-137802760-AC-A c.624del p.F209Sfs*43 Frameshift 2/2 - 1
5-137802762-C-A c.624C>A p.T208= Synonymous 2/2 - 1
5-137802762-C-G c.624C>G p.T208= Synonymous 2/2 - 1
5-137802762-C-T c.624C>T p.T208= Synonymous 2/2 - 1
5-137802763-T-A c.625T>A p.F209I Missense 2/2 - 2
5-137802763-T-C c.625T>C p.F209L Missense 2/2 - 1
5-137802765-C-T c.627C>T p.F209= Synonymous 2/2 - 1
5-137802766-C-G c.628C>G p.P210A Missense 2/2 - 1
5-137802766-C-A c.628C>A p.P210T Missense 2/2 - 1
5-137802767-C-T c.629C>T p.P210L Missense 2/2 - 2
5-137802769-A-G c.631A>G p.T211A Missense 2/2 - 3
5-137802770-C-T c.632C>T p.T211M Missense 2/2 - 2
5-137802771-G-A c.633G>A p.T211= Synonymous 2/2 - 1
5-137802771-G-T c.633G>T p.T211= Synonymous 2/2 - 1
5-137802771-G-C c.633G>C p.T211= Synonymous 2/2 - 1
5-137802772-C-G c.634C>G p.P212A Missense 2/2 - 1
5-137802773-C-T c.635C>T p.P212L Missense 2/2 - 3
5-137802774-G-T c.636G>T p.P212= Synonymous 2/2 - 2
5-137802774-G-A c.636G>A p.P212= Synonymous 2/2 - 2
5-137802774-G-C c.636G>C p.P212= Synonymous 2/2 - 2
5-137802775-AA-GC c.637_638delinsGC p.N213A Missense 2/2 - 1
5-137802778-A-G c.640A>G p.T214A Missense 2/2 - 3
5-137802779-CT-TG c.641_642delinsTG p.T214M Missense 2/2 - 1
5-137802779-C-G c.641C>G p.T214S Missense 2/2 - 1
5-137802778-A-T c.640A>T p.T214S Missense 2/2 - 1
5-137802781-G-A c.643G>A p.D215N Missense 2/2 - 2
5-137802781-G-T c.643G>T p.D215Y Missense 2/2 - 1
5-137802781-GA-TG c.643_644delinsTG p.D215C Missense 2/2 - 1
5-137802781-G-C c.643G>C p.D215H Missense 2/2 - 2
5-137802781-GA-AT c.643_644delinsAT p.D215I Missense 2/2 - 1
5-137802782-A-G c.644A>G p.D215G Missense 2/2 - 48
5-137802782-A-C c.644A>C p.D215A Missense 2/2 - 1
5-137802783-C-T c.645C>T p.D215= Synonymous 2/2 - 1
5-137802784-A-G c.646A>G p.I216V Missense 2/2 - 1
5-137802785-T-C c.647T>C p.I216T Missense 2/2 - 1
5-137802785-T-G c.647T>G p.I216S Missense 2/2 - 1
5-137802786-T-G c.648T>G p.I216M Missense 2/2 - 1
5-137802787-TT-GC c.649_650delinsGC p.F217A Missense 2/2 - 2
5-137802788-TC-AA c.650_651delinsAA p.F217* Nonsense 2/2 - 2
5-137802789-C-A c.651C>A p.F217L Missense 2/2 - 1
5-137802790-C-A c.652C>A p.P218T Missense 2/2 - 1
5-137802792-T-C c.654T>C p.P218= Synonymous 2/2 - 1
5-137802793-GA-CT c.655_656delinsCT p.E219L Missense 2/2 - 1
5-137802793-G-C c.655G>C p.E219Q Missense 2/2 - 1
5-137802793-GAG-AAC c.655_657delinsAAC p.E219N Missense 2/2 - 1
5-137802794-A-C c.656A>C p.E219A Missense 2/2 - 2
5-137802795-G-A c.657G>A p.E219= Synonymous 2/2 - 1
5-137802796-CCA-TGT c.658_660delinsTGT p.P220C Missense 2/2 - 1
5-137802796-CCA-TTT c.658_660delinsTTT p.P220F Missense 2/2 - 1
5-137802798-A-T c.660A>T p.P220= Synonymous 2/2 - 1
5-137802799-C-A c.661C>A p.Q221K Missense 2/2 - 1
5-137802802-A-T c.664A>T p.S222C Missense 2/2 - 2
5-137802802-AG-GC c.664_665delinsGC p.S222A Missense 2/2 - 3
5-137802802-AG-GA c.664_665delinsGA p.S222D Missense 2/2 - 5
5-137802799-CA-C c.664del p.S222Afs*30 Frameshift 2/2 - 1
5-137802799-C-CA c.664dup p.S222Kfs*72 Frameshift 2/2 - 1
5-137802803-G-T c.665G>T p.S222I Missense 2/2 - 1
5-137802804-C-G c.666C>G p.S222R Missense 2/2 - 1
5-137802803-GCCAGGCCTTCCCGGGCT-G c.667_683del p.Q223Gfs*65 Frameshift 2/2 - 1
5-137802806-A-G c.668A>G p.Q223R Missense 2/2 - 5
5-137802806-A-C c.668A>C p.Q223P Missense 2/2 - 1
5-137802808-GCC-ATG c.670_672delinsATG p.A224M Missense 2/2 - 1
5-137802808-GC-AT c.670_671delinsAT p.A224I Missense 2/2 - 1
5-137802808-G-A c.670G>A p.A224T Missense 2/2 - 1
5-137802809-C-T c.671C>T p.A224V Missense 2/2 - 1
5-137802809-C-G c.671C>G p.A224G Missense 2/2 - 1
5-137802810-C-T c.672C>T p.A224= Synonymous 2/2 - 1
5-137802811-T-C c.673T>C p.F225L Missense 2/2 - 3
5-137802811-T-A c.673T>A p.F225I Missense 2/2 - 4
5-137802813-C-A c.675C>A p.F225L Missense 2/2 - 2
5-137802813-C-G c.675C>G p.F225L Missense 2/2 - 1
5-137802811-TT-CG c.673_674delinsCG p.F225R Missense 2/2 - 1
5-137802811-TT-GC c.673_674delinsGC p.F225A Missense 2/2 - 1
5-137802811-T-G c.673T>G p.F225V Missense 2/2 - 1
5-137802811-TTC-AAG c.673_675delinsAAG p.F225K Missense 2/2 - 1
5-137802812-TC-GG c.674_675delinsGG p.F225W Missense 2/2 - 3
5-137802812-T-C c.674T>C p.F225S Missense 2/2 - 1
5-137802812-TTC-T c.674_675del p.F225Sfs*68 Frameshift 2/2 - 1
5-137802812-T-G c.674T>G p.F225C Missense 2/2 - 2
5-137802813-C-T c.675C>T p.F225= Synonymous 2/2 - 3
5-137802812-TCC-T c.676_677del p.P226Gfs*67 Frameshift 2/2 - 1
5-137802814-C-G c.676C>G p.P226A Missense 2/2 - 2
5-137802814-CC-TA c.676_677delinsTA p.P226* Nonsense 2/2 - 1
5-137802814-CCG-AAC c.676_678delinsAAC p.P226N Missense 2/2 - 1
5-137802814-CCG-TAT c.676_678delinsTAT p.P226Y Missense 2/2 - 1
5-137802814-CC-GG c.676_677inv p.P226G Missense 2/2 - 1
5-137802814-C-T c.676C>T p.P226S Missense 2/2 - 1
5-137802815-C-T c.677C>T p.P226L Missense 2/2 - 3
5-137802812-T-TC c.677dup p.S228Lfs*66 Frameshift 2/2 - 1
5-137802816-G-T c.678G>T p.P226= Synonymous 2/2 - 1
5-137802816-G-A c.678G>A p.P226= Synonymous 2/2 - 2
5-137802816-G-C c.678G>C p.P226= Synonymous 2/2 - 1
5-137802817-G-T c.679G>T p.G227C Missense 2/2 - 1
5-137802818-G-A c.680G>A p.G227D Missense 2/2 - 1
5-137802819-C-T c.681C>T p.G227= Synonymous 2/2 - 1
5-137802819-C-G c.681C>G p.G227= Synonymous 2/2 - 1
5-137802819-C-A c.681C>A p.G227= Synonymous 2/2 - 1
5-137802820-T-C c.682T>C p.S228P Missense 2/2 - 10
5-137802820-TCG-GAC c.682_684delinsGAC p.S228D Missense 2/2 - 2
5-137802820-T-G c.682T>G p.S228A Missense 2/2 - 3
5-137802820-T-TC c.683dup p.A229Gfs*65 Frameshift 2/2 - 1
5-137802821-CG-GT c.683_684delinsGT p.S228C Missense 2/2 - 1
5-137802821-C-G c.683C>G p.S228W Missense 2/2 - 1
5-137802823-G-A c.685G>A p.A229T Missense 2/2 - 1
5-137802824-C-T c.686C>T p.A229V Missense 2/2 - 1
5-137802826-G-A c.688G>A p.G230R Missense 2/2 - 2
5-137802826-G-C c.688G>C p.G230R Missense 2/2 - 2
5-137802826-GGG-TGT c.688_690delinsTGT p.G230C Missense 2/2 - 1
5-137802826-GG-CT c.688_689delinsCT p.G230L Missense 2/2 - 1
5-137802827-G-C c.689G>C p.G230A Missense 2/2 - 2
5-137802829-ACA-TGT c.691_693inv p.T231C Missense 2/2 - 1
5-137802829-A-G c.691A>G p.T231A Missense 2/2 - 2
5-137802829-ACA-TTT c.691_693delinsTTT p.T231F Missense 2/2 - 1
5-137802829-A-T c.691A>T p.T231S Missense 2/2 - 1
5-137802830-C-T c.692C>T p.T231I Missense 2/2 - 1
5-137802830-CA-TG c.692_693inv p.T231M Missense 2/2 - 1
5-137802832-G-A c.694G>A p.A232T Missense 2/2 - 2
5-137802832-G-C c.694G>C p.A232P Missense 2/2 - 1
5-137802832-G-T c.694G>T p.A232S Missense 2/2 - 1
5-137802833-C-T c.695C>T p.A232V Missense 2/2 - 2
5-137802833-C-G c.695C>G p.A232G Missense 2/2 - 2
5-137802834-G-C c.696G>C p.A232= Synonymous 2/2 - 2
5-137802834-G-A c.696G>A p.A232= Synonymous 2/2 - 1
5-137802834-G-T c.696G>T p.A232= Synonymous 2/2 - 1
5-137802835-CTC-TGG c.697_699delinsTGG p.L233W Missense 2/2 - 1
5-137802835-C-A c.697C>A p.L233I Missense 2/2 - 1
5-137802835-CTC-AAG c.697_699delinsAAG p.L233K Missense 2/2 - 1
5-137802836-TC-AA c.698_699delinsAA p.L233Q Missense 2/2 - 1
5-137802834-GCT-G c.698_699del p.L233Pfs*60 Frameshift 2/2 - 1
5-137802837-C-T c.699C>T p.L233= Synonymous 2/2 - 1
5-137802839-A-G c.701A>G p.Q234R Missense 2/2 - 1
5-137802840-G-A c.702G>A p.Q234= Synonymous 2/2 - 1
5-137802841-T-C c.703T>C p.Y235H Missense 2/2 - 1
5-137802841-TA-GC c.703_704delinsGC p.Y235A Missense 2/2 - 1
5-137802842-A-T c.704A>T p.Y235F Missense 2/2 - 1
5-137802842-A-C c.704A>C p.Y235S Missense 2/2 - 1
5-137802842-A-G c.704A>G p.Y235C Missense 2/2 - 1
5-137802843-C-T c.705C>T p.Y235= Synonymous 2/2 - 2
5-137802844-C-T c.706C>T p.P236S Missense 2/2 - 1
5-137802844-CC-AT c.706_707delinsAT p.P236M Missense 2/2 - 1
5-137802845-C-T c.707C>T p.P236L Missense 2/2 - 14
5-137802845-C-G c.707C>G p.P236R Missense 2/2 - 2
5-137802846-G-A c.708G>A p.P236= Synonymous 2/2 - 1
5-137802845-C-CG c.708dup p.P237Afs*57 Frameshift 2/2 - 1
5-137802847-C-T c.709C>T p.P237S Missense 2/2 - 2
5-137802847-C-G c.709C>G p.P237A Missense 2/2 - 1
5-137802846-GC-G c.710del p.P237Lfs*15 Frameshift 2/2 - 1
5-137802849-T-C c.711T>C p.P237= Synonymous 2/2 - 1
5-137802850-C-A c.712C>A p.P238T Missense 2/2 - 1
5-137802850-C-T c.712C>T p.P238S Missense 2/2 - 2
5-137802850-C-G c.712C>G p.P238A Missense 2/2 - 1
5-137802850-CC-GA c.712_713delinsGA p.P238D Missense 2/2 - 1
5-137802852-T-G c.714T>G p.P238= Synonymous 2/2 - 1
5-137802852-T-A c.714T>A p.P238= Synonymous 2/2 - 1
5-137802852-T-C c.714T>C p.P238= Synonymous 2/2 - 1
5-137802853-TGCCTACC-T c.715_721del p.A239Lfs*11 Frameshift 2/2 - 1
5-137802853-G-A c.715G>A p.A239T Missense 2/2 - 1
5-137802853-G-C c.715G>C p.A239P Missense 2/2 - 2
5-137802853-GC-TG c.715_716delinsTG p.A239C Missense 2/2 - 1
5-137802853-GC-CT c.715_716delinsCT p.A239L Missense 2/2 - 1
5-137802854-C-T c.716C>T p.A239V Missense 2/2 - 1
5-137802854-C-G c.716C>G p.A239G Missense 2/2 - 1
5-137802853-GC-G c.717del p.Y240Tfs*12 Frameshift 2/2 - 1
5-137802856-TA-GC c.718_719delinsGC p.Y240A Missense 2/2 - 1
5-137802856-T-C c.718T>C p.Y240H Missense 2/2 - 1
5-137802857-A-G c.719A>G p.Y240C Missense 2/2 - 2
5-137802858-C-G c.720C>G p.Y240* Nonsense 2/2 - 1
5-137802861-T-A c.723T>A p.P241= Synonymous 2/2 - 1
5-137802861-T-C c.723T>C p.P241= Synonymous 2/2 - 1
5-137802862-G-A c.724G>A p.A242T Missense 2/2 - 2
5-137802862-G-C c.724G>C p.A242P Missense 2/2 - 1
5-137802863-C-T c.725C>T p.A242V Missense 2/2 - 2
5-137802864-C-T c.726C>T p.A242= Synonymous 2/2 - 1
5-137802865-G-A c.727G>A p.A243T Missense 2/2 - 2
5-137802865-G-T c.727G>T p.A243S Missense 2/2 - 3
5-137802861-TGCC-T c.727_729del p.A243del InFrameDeletion 2/2 - 3
5-137802866-C-G c.728C>G p.A243G Missense 2/2 - 2
5-137802866-C-T c.728C>T p.A243V Missense 2/2 - 1
5-137802867-C-A c.729C>A p.A243= Synonymous 2/2 - 1
5-137802867-C-G c.729C>G p.A243= Synonymous 2/2 - 1
5-137802867-C-T c.729C>T p.A243= Synonymous 2/2 - 1
5-137802868-AAG-TGT c.730_732delinsTGT p.K244C Missense 2/2 - 1
5-137802868-AA-GC c.730_731delinsGC p.K244A Missense 2/2 - 1
5-137802868-A-G c.730A>G p.K244E Missense 2/2 - 1
5-137802869-A-C c.731A>C p.K244T Missense 2/2 - 1
5-137802872-G-A c.734G>A p.G245D Missense 2/2 - 1
5-137802872-GT-AG c.734_735delinsAG p.G245E Missense 2/2 - 1
5-137802872-G-C c.734G>C p.G245A Missense 2/2 - 1
5-137802872-G-T c.734G>T p.G245V Missense 2/2 - 1
5-137802874-G-T c.736G>T p.G246C Missense 2/2 - 1
5-137802874-G-C c.736G>C p.G246R Missense 2/2 - 1
5-137802875-G-T c.737G>T p.G246V Missense 2/2 - 1
5-137802876-C-G c.738C>G p.G246= Synonymous 2/2 - 1
5-137802877-TT-GC c.739_740delinsGC p.F247A Missense 2/2 - 2
5-137802877-TT-CA c.739_740delinsCA p.F247H Missense 2/2 - 1
5-137802877-T-C c.739T>C p.F247L Missense 2/2 - 1
5-137802876-CT-C c.740del p.F247Sfs*5 Frameshift 2/2 - 1
5-137802878-T-A c.740T>A p.F247Y Missense 2/2 - 1
5-137802879-C-G c.741C>G p.F247L Missense 2/2 - 1
5-137802883-G-T c.745G>T p.V249F Missense 2/2 - 1
5-137802885-T-G c.747T>G p.V249= Synonymous 2/2 - 1
5-137802886-CC-GA c.748_749delinsGA p.P250D Missense 2/2 - 2
5-137802886-CCC-TAA c.748_750delinsTAA p.P250* Nonsense 2/2 - 1
5-137802886-CCC-GAG c.748_750delinsGAG p.P250E Missense 2/2 - 1
5-137802888-C-T c.750C>T p.P250= Synonymous 2/2 - 1
5-137802890-T-A c.752T>A p.M251K Missense 2/2 - 1
5-137802891-G-A c.753G>A p.M251I Missense 2/2 - 1
5-137802892-A-T c.754A>T p.I252F Missense 2/2 - 1
5-137802893-ATCCC-A c.755_758del p.I252Tfs*34 Frameshift 2/2 - 1
5-137802892-A-AT c.755dup p.D254Rfs*40 Frameshift 2/2 - 1
5-137802894-C-T c.756C>T p.I252= Synonymous 2/2 - 1
5-137802894-C-A c.756C>A p.I252= Synonymous 2/2 - 1
5-137802896-C-A c.758C>A p.P253H Missense 2/2 - 1
5-137802896-C-T c.758C>T p.P253L Missense 2/2 - 1
5-137802898-GAC-AAG c.760_762delinsAAG p.D254K Missense 2/2 - 1
5-137802898-G-T c.760G>T p.D254Y Missense 2/2 - 1
5-137802898-GAC-TAA c.760_762delinsTAA p.D254* Nonsense 2/2 - 1
5-137802901-TA-GC c.763_764delinsGC p.Y255A Missense 2/2 - 1
5-137802899-ACTAC-A c.764_767del p.Y255Cfs*31 Frameshift 2/2 - 1
5-137802904-CTG-TGT c.766_768delinsTGT p.L256C Missense 2/2 - 2
5-137802904-CTG-GAC c.766_768delinsGAC p.L256D Missense 2/2 - 1
5-137802904-CT-GC c.766_767delinsGC p.L256A Missense 2/2 - 1
5-137802904-C-A c.766C>A p.L256M Missense 2/2 - 1
5-137802905-T-A c.767T>A p.L256Q Missense 2/2 - 2
5-137802906-TGTTTCCA-T c.768_774del p.F257Sfs*28 Frameshift 2/2 - 1
5-137802906-G-A c.768G>A p.L256= Synonymous 2/2 - 1
5-137802906-TG-T c.768del p.P258Hfs*29 Frameshift 2/2 - 1
5-137802907-TT-GC c.769_770delinsGC p.F257A Missense 2/2 - 1
5-137802907-TT-GG c.769_770delinsGG p.F257G Missense 2/2 - 1
5-137802909-TTCCAC-T c.771_775del p.F257Lfs*35 Frameshift 2/2 - 1
5-137802910-C-A c.772C>A p.P258T Missense 2/2 - 1
5-137802910-CC-GT c.772_773delinsGT p.P258V Missense 2/2 - 1
5-137802910-C-T c.772C>T p.P258S Missense 2/2 - 1
5-137802910-C-G c.772C>G p.P258A Missense 2/2 - 1
5-137802911-C-A c.773C>A p.P258Q Missense 2/2 - 1
5-137802913-C-A c.775C>A p.Q259K Missense 2/2 - 1
5-137802915-G-T c.777G>T p.Q259H Missense 2/2 - 2
5-137802915-G-C c.777G>C p.Q259H Missense 2/2 - 1
5-137802916-C-G c.778C>G p.Q260E Missense 2/2 - 1
5-137802916-C-T c.778C>T p.Q260* Nonsense 2/2 - 1
5-137802917-A-G c.779A>G p.Q260R Missense 2/2 - 1
5-137802918-G-A c.780G>A p.Q260= Synonymous 2/2 - 1
5-137802919-C-G c.781C>G p.Q261E Missense 2/2 - 2
5-137802919-CA-AC c.781_782delinsAC p.Q261T Missense 2/2 - 1
5-137802922-GGG-AGC c.784_786delinsAGC p.G262S Missense 2/2 - 1
5-137802924-GG-C c.786_787delinsC p.D263Ifs*24 Frameshift 2/2 - 1
5-137802920-A-AG c.787dup p.D263Gfs*31 Frameshift 2/2 - 1
5-137802926-A-C c.788A>C p.D263A Missense 2/2 - 2
5-137802927-T-C c.789T>C p.D263= Synonymous 2/2 - 1
5-137802928-CTG-TTT c.790_792delinsTTT p.L264F Missense 2/2 - 1
5-137802928-C-T c.790C>T p.L264= Synonymous 2/2 - 1
5-137802929-T-A c.791T>A p.L264Q Missense 2/2 - 1
5-137802929-T-G c.791T>G p.L264R Missense 2/2 - 1
5-137802932-G-C c.794G>C p.G265A Missense 2/2 - 1
5-137802933-C-A c.795C>A p.G265= Synonymous 2/2 - 1
5-137802933-C-G c.795C>G p.G265= Synonymous 2/2 - 1
5-137802934-C-G c.796C>G p.L266V Missense 2/2 - 2
5-137802934-C-A c.796C>A p.L266M Missense 2/2 - 1
5-137802935-T-A c.797T>A p.L266Q Missense 2/2 - 1
5-137802937-G-T c.799G>T p.G267C Missense 2/2 - 1
5-137802938-G-GATCATTAAAAA c.800_801insATCATTAAAAA p.T268Sfs*23 Frameshift 2/2 - 1
5-137802938-G-A c.800G>A p.G267D Missense 2/2 - 2
5-137802940-A-G c.802A>G p.T268A Missense 2/2 - 1
5-137802941-CC-TG c.803_804delinsTG p.T268M Missense 2/2 - 1
5-137802941-C-T c.803C>T p.T268I Missense 2/2 - 2
5-137802941-CC-AG c.803_804delinsAG p.T268K Missense 2/2 - 1
5-137802943-C-A c.805C>A p.P269T Missense 2/2 - 1
5-137802944-C-T c.806C>T p.P269L Missense 2/2 - 2
5-137802940-A-AC c.806dup p.D270Rfs*24 Frameshift 2/2 - 1
5-137802944-C-G c.806C>G p.P269R Missense 2/2 - 1
5-137802945-A-G c.807A>G p.P269= Synonymous 2/2 - 1
5-137802946-G-A c.808G>A p.D270N Missense 2/2 - 1
5-137802947-A-C c.809A>C p.D270A Missense 2/2 - 2
5-137802949-CAG-TGT c.811_813delinsTGT p.Q271C Missense 2/2 - 2
5-137802949-C-G c.811C>G p.Q271E Missense 2/2 - 2
5-137802950-A-C c.812A>C p.Q271P Missense 2/2 - 1
5-137802950-A-G c.812A>G p.Q271R Missense 2/2 - 1
5-137802953-A-G c.815A>G p.K272R Missense 2/2 - 3
5-137802954-G-C c.816G>C p.K272N Missense 2/2 - 2
5-137802954-G-T c.816G>T p.K272N Missense 2/2 - 2
5-137802954-G-A c.816G>A p.K272= Synonymous 2/2 - 1
5-137802955-C-T c.817C>T p.P273S Missense 2/2 - 2
5-137802955-C-A c.817C>A p.P273T Missense 2/2 - 1
5-137802957-C-T c.819C>T p.P273= Synonymous 2/2 - 1
5-137802958-T-C c.820T>C p.F274L Missense 2/2 - 1
5-137802960-C-A c.822C>A p.F274L Missense 2/2 - 1
5-137802960-C-G c.822C>G p.F274L Missense 2/2 - 1
5-137802961-C-T c.823C>T p.Q275* Nonsense 2/2 - 1
5-137802962-A-G c.824A>G p.Q275R Missense 2/2 - 1
5-137802963-G-A c.825G>A p.Q275= Synonymous 2/2 - 1
5-137802964-GG-AC c.826_827delinsAC p.G276T Missense 2/2 - 2
5-137802965-GC-G c.829del p.L277Wfs*10 Frameshift 2/2 - 1
5-137802970-GA-TC c.832_833inv p.E278S Missense 2/2 - 16
5-137802972-G-A c.834G>A p.E278= Synonymous 2/2 - 1
5-137802973-AG-CT c.835_836inv p.S279L Missense 2/2 - 1
5-137802973-AG-GC c.835_836delinsGC p.S279A Missense 2/2 - 1
5-137802973-AG-GA c.835_836delinsGA p.S279D Missense 2/2 - 1
5-137802973-A-G c.835A>G p.S279G Missense 2/2 - 1
5-137802974-G-A c.836G>A p.S279N Missense 2/2 - 1
5-137802974-G-T c.836G>T p.S279I Missense 2/2 - 1
5-137802975-C-A c.837C>A p.S279R Missense 2/2 - 1
5-137802976-CGC-AAG c.838_840delinsAAG p.R280K Missense 2/2 - 2
5-137802976-C-G c.838C>G p.R280G Missense 2/2 - 1
5-137802976-CG-GC c.838_839delinsGC p.R280A Missense 2/2 - 2
5-137802976-CGC-GAG c.838_840delinsGAG p.R280E Missense 2/2 - 1
5-137802976-C-T c.838C>T p.R280C Missense 2/2 - 1
5-137802977-G-T c.839G>T p.R280L Missense 2/2 - 1
5-137802977-G-A c.839G>A p.R280H Missense 2/2 - 5
5-137802979-A-G c.841A>G p.T281A Missense 2/2 - 2
5-137802980-C-T c.842C>T p.T281I Missense 2/2 - 1
5-137802982-C-T c.844C>T p.Q282* Nonsense 2/2 - 2
5-137802979-AC-A c.844del p.Q282Sfs*5 Frameshift 2/2 - 1
5-137802983-A-G c.845A>G p.Q282R Missense 2/2 - 1
5-137802984-G-A c.846G>A p.Q282= Synonymous 2/2 - 1
5-137802985-C-A c.847C>A p.Q283K Missense 2/2 - 1
5-137802985-C-T c.847C>T p.Q283* Nonsense 2/2 - 1
5-137802987-G-T c.849G>T p.Q283H Missense 2/2 - 1
5-137802989-CT-AA c.851_852delinsAA p.P284Q Missense 2/2 - 1
5-137802989-C-T c.851C>T p.P284L Missense 2/2 - 1
5-137802991-T-G c.853T>G p.S285A Missense 2/2 - 1
5-137802991-T-C c.853T>C p.S285P Missense 2/2 - 1
5-137802991-TC-GG c.853_854delinsGG p.S285G Missense 2/2 - 1
5-137802992-CG-TT c.854_855delinsTT p.S285F Missense 2/2 - 1
5-137802993-G-A c.855G>A p.S285= Synonymous 2/2 - 2
5-137802994-CTA-TTT c.856_858delinsTTT p.L286F Missense 2/2 - 1
5-137802997-AC-GA c.859_860delinsGA p.T287D Missense 2/2 - 2
5-137802998-C-T c.860C>T p.T287I Missense 2/2 - 2
5-137802998-CC-AG c.860_861delinsAG p.T287K Missense 2/2 - 1
5-137803000-C-T c.862C>T p.P288S Missense 2/2 - 1
5-137803000-C-G c.862C>G p.P288A Missense 2/2 - 1
5-137803001-C-T c.863C>T p.P288L Missense 2/2 - 1
5-137803003-CTG-TTT c.865_867delinsTTT p.L289F Missense 2/2 - 2
5-137803003-C-T c.865C>T p.L289= Synonymous 2/2 - 1
5-137803003-CT-GC c.865_866delinsGC p.L289A Missense 2/2 - 2
5-137803005-G-A c.867G>A p.L289= Synonymous 2/2 - 1
5-137803006-T-C c.868T>C p.S290P Missense 2/2 - 1
5-137803006-T-A c.868T>A p.S290T Missense 2/2 - 1
5-137803007-C-G c.869C>G p.S290C Missense 2/2 - 1
5-137803007-C-T c.869C>T p.S290F Missense 2/2 - 1
5-137803008-T-G c.870T>G p.S290= Synonymous 2/2 - 1
5-137803008-T-C c.870T>C p.S290= Synonymous 2/2 - 1
5-137803008-T-A c.870T>A p.S290= Synonymous 2/2 - 1
5-137803009-A-G c.871A>G p.T291A Missense 2/2 - 2
5-137803012-A-G c.874A>G p.I292V Missense 2/2 - 2
5-137803013-T-C c.875T>C p.I292T Missense 2/2 - 1
5-137803015-AA-GC c.877_878delinsGC p.K293A Missense 2/2 - 1
5-137803015-A-G c.877A>G p.K293E Missense 2/2 - 1
5-137803016-A-G c.878A>G p.K293R Missense 2/2 - 1
5-137803018-G-T c.880G>T p.A294S Missense 2/2 - 2
5-137803019-C-G c.881C>G p.A294G Missense 2/2 - 1
5-137803019-C-T c.881C>T p.A294V Missense 2/2 - 1
5-137803020-C-A c.882C>A p.A294= Synonymous 2/2 - 1
5-137803022-T-G c.884T>G p.F295C Missense 2/2 - 1
5-137803024-G-A c.886G>A p.A296T Missense 2/2 - 1
5-137803024-G-T c.886G>T p.A296S Missense 2/2 - 2
5-137803025-C-A c.887C>A p.A296D Missense 2/2 - 2
5-137803026-C-A c.888C>A p.A296= Synonymous 2/2 - 1
5-137803026-C-CT c.888_889insT p.T297Yfs*50 Frameshift 2/2 - 1
5-137803028-C-T c.890C>T p.T297I Missense 2/2 - 1
5-137803028-C-A c.890C>A p.T297N Missense 2/2 - 2
5-137803028-AC-A c.890del p.T297Ifs*8 Frameshift 2/2 - 1
5-137803030-C-A c.892C>A p.Q298K Missense 2/2 - 1
5-137803030-CA-GC c.892_893delinsGC p.Q298A Missense 2/2 - 1
5-137803031-A-G c.893A>G p.Q298R Missense 2/2 - 1
5-137803032-G-T c.894G>T p.Q298H Missense 2/2 - 1
5-137803033-TCG-AAC c.895_897delinsAAC p.S299N Missense 2/2 - 1
5-137803033-TCG-ATC c.895_897delinsATC p.S299I Missense 2/2 - 1
5-137803034-C-G c.896C>G p.S299W Missense 2/2 - 1
5-137803036-G-T c.898G>T p.G300C Missense 2/2 - 1
5-137803036-GG-CC c.898_899inv p.G300P Missense 2/2 - 1
5-137803038-C-T c.900C>T p.G300= Synonymous 2/2 - 1
5-137803038-C-G c.900C>G p.G300= Synonymous 2/2 - 1
5-137803039-TC-CT c.901_902delinsCT p.S301L Missense 2/2 - 1
5-137803039-TC-GA c.901_902inv p.S301D Missense 2/2 - 1
5-137803039-T-G c.901T>G p.S301A Missense 2/2 - 2
5-137803039-TCC-GAG c.901_903delinsGAG p.S301E Missense 2/2 - 2
5-137803039-T-C c.901T>C p.S301P Missense 2/2 - 1
5-137803039-T-A c.901T>A p.S301T Missense 2/2 - 1
5-137803040-C-A c.902C>A p.S301Y Missense 2/2 - 1
5-137803041-C-T c.903C>T p.S301= Synonymous 2/2 - 1
5-137803041-C-G c.903C>G p.S301= Synonymous 2/2 - 1
5-137803041-C-A c.903C>A p.S301= Synonymous 2/2 - 1
5-137803042-C-T c.904C>T p.Q302* Nonsense 2/2 - 1
5-137803042-C-A c.904C>A p.Q302K Missense 2/2 - 1
5-137803043-A-G c.905A>G p.Q302R Missense 2/2 - 1
5-137803044-G-A c.906G>A p.Q302= Synonymous 2/2 - 1
5-137803045-GA-CG c.907_908delinsCG p.D303R Missense 2/2 - 2
5-137803045-G-C c.907G>C p.D303H Missense 2/2 - 1
5-137803045-G-A c.907G>A p.D303N Missense 2/2 - 1
5-137803046-A-G c.908A>G p.D303G Missense 2/2 - 1
5-137803047-C-G c.909C>G p.D303E Missense 2/2 - 1
5-137803048-CTG-TTT c.910_912delinsTTT p.L304F Missense 2/2 - 2
5-137803048-C-T c.910C>T p.L304= Synonymous 2/2 - 1
5-137803049-T-A c.911T>A p.L304Q Missense 2/2 - 1
5-137803051-AA-GC c.913_914delinsGC p.K305A Missense 2/2 - 2
5-137803051-A-G c.913A>G p.K305E Missense 2/2 - 1
5-137803052-A-G c.914A>G p.K305R Missense 2/2 - 2
5-137803052-AG-TC c.914_915delinsTC p.K305I Missense 2/2 - 1
5-137803053-G-A c.915G>A p.K305= Synonymous 2/2 - 1
5-137803054-G-A c.916G>A p.A306T Missense 2/2 - 1
5-137803054-G-T c.916G>T p.A306S Missense 2/2 - 1
5-137803054-G-C c.916G>C p.A306P Missense 2/2 - 1
5-137803055-C-CG c.917_918insG p.L307Pfs*40 Frameshift 2/2 - 1
5-137803057-C-G c.919C>G p.L307V Missense 2/2 - 1
5-137803058-T-C c.920T>C p.L307P Missense 2/2 - 1
5-137803059-C-T c.921C>T p.L307= Synonymous 2/2 - 1
5-137803059-C-G c.921C>G p.L307= Synonymous 2/2 - 1
5-137803059-C-A c.921C>A p.L307= Synonymous 2/2 - 1
5-137803060-A-G c.922A>G p.N308D Missense 2/2 - 1
5-137803062-T-C c.924T>C p.N308= Synonymous 2/2 - 2
5-137803063-AC-GG c.925_926delinsGG p.T309G Missense 2/2 - 2
5-137803063-ACC-CAA c.925_927delinsCAA p.T309Q Missense 2/2 - 1
5-137803063-A-G c.925A>G p.T309A Missense 2/2 - 3
5-137803064-C-A c.926C>A p.T309N Missense 2/2 - 1
5-137803066-AG-GC c.928_929delinsGC p.S310A Missense 2/2 - 1
5-137803066-A-T c.928A>T p.S310C Missense 2/2 - 1
5-137803066-A-G c.928A>G p.S310G Missense 2/2 - 1
5-137803067-G-A c.929G>A p.S310N Missense 2/2 - 1
5-137803070-A-T c.932A>T p.Y311F Missense 2/2 - 1
5-137803070-A-C c.932A>C p.Y311S Missense 2/2 - 1
5-137803071-C-T c.933C>T p.Y311= Synonymous 2/2 - 1
5-137803075-T-C c.937T>C p.S313P Missense 2/2 - 1
5-137803075-TC-GA c.937_938inv p.S313D Missense 2/2 - 1
5-137803075-T-G c.937T>G p.S313A Missense 2/2 - 1
5-137803076-C-G c.938C>G p.S313C Missense 2/2 - 1
5-137803077-C-T c.939C>T p.S313= Synonymous 2/2 - 1
5-137803078-CA-AT c.940_941delinsAT p.Q314M Missense 2/2 - 1
5-137803078-C-G c.940C>G p.Q314E Missense 2/2 - 1
5-137803079-A-C c.941A>C p.Q314P Missense 2/2 - 2
5-137803081-CT-GC c.943_944delinsGC p.L315A Missense 2/2 - 1
5-137803082-T-G c.944T>G p.L315R Missense 2/2 - 1
5-137803082-T-C c.944T>C p.L315P Missense 2/2 - 1
5-137803083-C-T c.945C>T p.L315= Synonymous 2/2 - 1
5-137803084-A-T c.946A>T p.I316F Missense 2/2 - 1
5-137803088-A-G c.950A>G p.K317R Missense 2/2 - 2
5-137803088-AA-TG c.950_951delinsTG p.K317M Missense 2/2 - 3
5-137803090-C-A c.952C>A p.P318T Missense 2/2 - 1
5-137803090-C-G c.952C>G p.P318A Missense 2/2 - 1
5-137803092-C-T c.954C>T p.P318= Synonymous 2/2 - 1
5-137803094-G-GC c.958dup p.R320Pfs*27 Frameshift 2/2 - 1
5-137803096-CG-GC c.958_959delinsGC p.R320A Missense 2/2 - 2
5-137803097-GC-AA c.959_960delinsAA p.R320Q Missense 2/2 - 2
5-137803097-G-A c.959G>A p.R320H Missense 2/2 - 1
5-137803099-AT-GC c.961_962delinsGC p.M321A Missense 2/2 - 1
5-137803099-ATG-TTT c.961_963delinsTTT p.M321F Missense 2/2 - 1
5-137803100-T-A c.962T>A p.M321K Missense 2/2 - 1
5-137803101-G-A c.963G>A p.M321I Missense 2/2 - 1
5-137803102-CGC-AAG c.964_966delinsAAG p.R322K Missense 2/2 - 1
5-137803102-C-T c.964C>T p.R322C Missense 2/2 - 1
5-137803102-CG-GC c.964_965delinsGC p.R322A Missense 2/2 - 1
5-137803105-A-G c.967A>G p.K323E Missense 2/2 - 1
5-137803105-AA-GC c.967_968delinsGC p.K323A Missense 2/2 - 1
5-137803106-A-G c.968A>G p.K323R Missense 2/2 - 2
5-137803108-T-A c.970T>A p.Y324N Missense 2/2 - 1
5-137803109-A-T c.971A>T p.Y324F Missense 2/2 - 2
5-137803110-C-T c.972C>T p.Y324= Synonymous 2/2 - 1
5-137803111-C-G c.973C>G p.P325A Missense 2/2 - 1
5-137803113-C-A c.975C>A p.P325= Synonymous 2/2 - 1
5-137803114-A-C c.976A>C p.N326H Missense 2/2 - 1
5-137803115-A-G c.977A>G p.N326S Missense 2/2 - 2
5-137803116-C-T c.978C>T p.N326= Synonymous 2/2 - 1
5-137803117-CG-GC c.979_980delinsGC p.R327A Missense 2/2 - 1
5-137803117-CGG-AGC c.979_981delinsAGC p.R327S Missense 2/2 - 1
5-137803118-G-A c.980G>A p.R327Q Missense 2/2 - 1
5-137803118-G-GC c.980_981insC p.P328Afs*19 Frameshift 2/2 - 1
5-137803120-C-A c.982C>A p.P328T Missense 2/2 - 1
5-137803123-A-G c.985A>G p.S329G Missense 2/2 - 2
5-137803123-AG-CC c.985_986delinsCC p.S329P Missense 2/2 - 1
5-137803123-AG-GC c.985_986delinsGC p.S329A Missense 2/2 - 2
5-137803123-A-T c.985A>T p.S329C Missense 2/2 - 1
5-137803126-A-G c.988A>G p.K330E Missense 2/2 - 1
5-137803130-C-G c.992C>G p.T331R Missense 2/2 - 1
5-137803131-G-A c.993G>A p.T331= Synonymous 2/2 - 1
5-137803128-GACGCCCCCCC-G c.994_1003del p.P332Nfs*197 Frameshift 2/2 - 1
5-137803132-C-T c.994C>T p.P332S Missense 2/2 - 2
5-137803136-C-T c.998C>T p.P333L Missense 2/2 - 2
5-137803138-C-T c.1000C>T p.H334Y Missense 2/2 - 3
5-137803131-G-GC c.1000dup p.H334Pfs*13 Frameshift 2/2 - 2
5-137803131-GC-G c.1000del p.H334Tfs*198 Frameshift 2/2 - 1
5-137803141-CG-C c.1003del p.E335Nfs*197 Frameshift 2/2 - 1
5-137803141-G-A c.1003G>A p.E335K Missense 2/2 - 1
5-137803141-G-C c.1003G>C p.E335Q Missense 2/2 - 2
5-137803142-A-G c.1004A>G p.E335G Missense 2/2 - 2
5-137803144-CG-GC c.1006_1007delinsGC p.R336A Missense 2/2 - 1
5-137803144-C-T c.1006C>T p.R336C Missense 2/2 - 1
5-137803144-CGC-GAG c.1006_1008delinsGAG p.R336E Missense 2/2 - 1
5-137803145-G-T c.1007G>T p.R336L Missense 2/2 - 1
5-137803148-C-T c.1010C>T p.P337L Missense 2/2 - 1
5-137803149-T-C c.1011T>C p.P337= Synonymous 2/2 - 1
5-137803153-G-A c.1015G>A p.A339T Missense 2/2 - 1
5-137803153-G-T c.1015G>T p.A339S Missense 2/2 - 1
5-137803155-T-G c.1017T>G p.A339= Synonymous 2/2 - 1
5-137803156-TG-GC c.1018_1019delinsGC p.C340A Missense 2/2 - 1
5-137803157-G-A c.1019G>A p.C340Y Missense 2/2 - 1
5-137803160-C-T c.1022C>T p.P341L Missense 2/2 - 1
5-137803157-GC-G c.1022del p.P341Qfs*191 Frameshift 2/2 - 1
5-137803157-G-GC c.1022dup p.V342Sfs*5 Frameshift 2/2 - 1
5-137803164-G-A c.1026G>A p.V342= Synonymous 2/2 - 2
5-137803164-G-C c.1026G>C p.V342= Synonymous 2/2 - 1
5-137803164-G-T c.1026G>T p.V342= Synonymous 2/2 - 1
5-137803165-G-C c.1027G>C p.E343Q Missense 2/2 - 2
5-137803165-G-A c.1027G>A p.E343K Missense 2/2 - 2
5-137803167-G-C c.1029G>C p.E343D Missense 2/2 - 1
5-137803167-G-T c.1029G>T p.E343D Missense 2/2 - 1
5-137803168-T-A c.1030T>A p.S344T Missense 2/2 - 1
5-137803168-TC-CT c.1030_1031delinsCT p.S344L Missense 2/2 - 1
5-137803171-TG-AC c.1033_1034delinsAC p.C345T Missense 2/2 - 1
5-137803171-TG-GC c.1033_1034delinsGC p.C345A Missense 2/2 - 1
5-137803172-G-A c.1034G>A p.C345Y Missense 2/2 - 1
5-137803172-G-C c.1034G>C p.C345S Missense 2/2 - 1
5-137803172-G-T c.1034G>T p.C345F Missense 2/2 - 2
5-137803173-T-C c.1035T>C p.C345= Synonymous 2/2 - 6
5-137803173-T-A c.1035T>A p.C345* Nonsense 2/2 - 1
5-137803174-GA-CG c.1036_1037delinsCG p.D346R Missense 2/2 - 1
5-137803174-GAT-AAG c.1036_1038delinsAAG p.D346K Missense 2/2 - 1
5-137803175-A-C c.1037A>C p.D346A Missense 2/2 - 1
5-137803177-CG-GC c.1039_1040delinsGC p.R347A Missense 2/2 - 1
5-137803177-CGC-TGA c.1039_1041delinsTGA p.R347* Nonsense 2/2 - 1
5-137803178-G-A c.1040G>A p.R347H Missense 2/2 - 2
5-137803178-G-C c.1040G>C p.R347P Missense 2/2 - 1
5-137803178-GC-AA c.1040_1041delinsAA p.R347Q Missense 2/2 - 2
5-137803179-C-A c.1041C>A p.R347= Synonymous 2/2 - 1
5-137803180-CG-GC c.1042_1043delinsGC p.R348A Missense 2/2 - 1
5-137803180-C-A c.1042C>A p.R348S Missense 2/2 - 1
5-137803181-G-A c.1043G>A p.R348H Missense 2/2 - 1
5-137803181-G-T c.1043G>T p.R348L Missense 2/2 - 1
5-137803183-T-G c.1045T>G p.F349V Missense 2/2 - 1
5-137803183-TT-GC c.1045_1046delinsGC p.F349A Missense 2/2 - 1
5-137803185-C-T c.1047C>T p.F349= Synonymous 2/2 - 1
5-137803186-T-G c.1048T>G p.S350A Missense 2/2 - 1
5-137803186-TC-GA c.1048_1049inv p.S350D Missense 2/2 - 1
5-137803188-C-T c.1050C>T p.S350= Synonymous 2/2 - 1
5-137803189-C-T c.1051C>T p.R351C Missense 2/2 - 1
5-137803189-CG-GC c.1051_1052delinsGC p.R351A Missense 2/2 - 1
5-137803192-T-C c.1054T>C p.S352P Missense 2/2 - 3
5-137803192-T-G c.1054T>G p.S352A Missense 2/2 - 1
5-137803193-C-G c.1055C>G p.S352C Missense 2/2 - 2
5-137803193-C-T c.1055C>T p.S352F Missense 2/2 - 1
5-137803195-G-T c.1057G>T p.D353Y Missense 2/2 - 1
5-137803193-CCGA-C c.1059_1061del p.D353del InFrameDeletion 2/2 - 1
5-137803198-G-C c.1060G>C p.E354Q Missense 2/2 - 3
5-137803198-GAG-CAT c.1060_1062delinsCAT p.E354H Missense 2/2 - 2
5-137803199-A-G c.1061A>G p.E354G Missense 2/2 - 1
5-137803200-G-C c.1062G>C p.E354D Missense 2/2 - 1
5-137803201-C-T c.1063C>T p.L355F Missense 2/2 - 1
5-137803202-T-G c.1064T>G p.L355R Missense 2/2 - 2
5-137803204-A-G c.1066A>G p.T356A Missense 2/2 - 1
5-137803205-C-T c.1067C>T p.T356I Missense 2/2 - 1
5-137803205-C-G c.1067C>G p.T356S Missense 2/2 - 1
5-137803204-A-T c.1066A>T p.T356S Missense 2/2 - 1
5-137803207-CGC-AAG c.1069_1071delinsAAG p.R357K Missense 2/2 - 1
5-137803207-CG-GC c.1069_1070delinsGC p.R357A Missense 2/2 - 2
5-137803208-G-A c.1070G>A p.R357H Missense 2/2 - 1
5-137803208-G-C c.1070G>C p.R357P Missense 2/2 - 1
5-137803208-GC-AA c.1070_1071delinsAA p.R357Q Missense 2/2 - 1
5-137803209-C-A c.1071C>A p.R357= Synonymous 2/2 - 1
5-137803210-CA-GC c.1072_1073delinsGC p.H358A Missense 2/2 - 1
5-137803215-C-T c.1077C>T p.I359= Synonymous 2/2 - 1
5-137803216-CG-GC c.1078_1079delinsGC p.R360A Missense 2/2 - 1
5-137803216-C-T c.1078C>T p.R360C Missense 2/2 - 3
5-137803216-CGC-TGG c.1078_1080delinsTGG p.R360W Missense 2/2 - 1
5-137803220-T-C c.1082T>C p.I361T Missense 2/2 - 1
5-137803224-C-T c.1086C>T p.H362= Synonymous 2/2 - 1
5-137803225-CACA-C c.1087_1089del p.T363del InFrameDeletion 2/2 - 1
5-137803226-C-T c.1088C>T p.T363I Missense 2/2 - 1
5-137803229-G-C c.1091G>C p.G364A Missense 2/2 - 1
5-137803234-A-C c.1096A>C p.K366Q Missense 2/2 - 1
5-137803237-C-G c.1099C>G p.P367A Missense 2/2 - 1
5-137803237-C-T c.1099C>T p.P367S Missense 2/2 - 1
5-137803239-C-G c.1101C>G p.P367= Synonymous 2/2 - 1
5-137803239-C-T c.1101C>T p.P367= Synonymous 2/2 - 1
5-137803240-TT-GC c.1102_1103delinsGC p.F368A Missense 2/2 - 1
5-137803241-T-A c.1103T>A p.F368Y Missense 2/2 - 1
5-137803244-A-C c.1106A>C p.Q369P Missense 2/2 - 1
5-137803245-G-T c.1107G>T p.Q369H Missense 2/2 - 1
5-137803245-G-C c.1107G>C p.Q369H Missense 2/2 - 1
5-137803246-T-A c.1108T>A p.C370S Missense 2/2 - 1
5-137803247-G-C c.1109G>C p.C370S Missense 2/2 - 1
5-137803246-TG-CC c.1108_1109delinsCC p.C370P Missense 2/2 - 1
5-137803246-TG-GC c.1108_1109delinsGC p.C370A Missense 2/2 - 1
5-137803247-G-T c.1109G>T p.C370F Missense 2/2 - 1
5-137803249-CG-AT c.1111_1112delinsAT p.R371I Missense 2/2 - 2
5-137803250-G-A c.1112G>A p.R371H Missense 2/2 - 1
5-137803255-T-A c.1117T>A p.C373S Missense 2/2 - 2
5-137803256-G-C c.1118G>C p.C373S Missense 2/2 - 2
5-137803256-G-A c.1118G>A p.C373Y Missense 2/2 - 1
5-137803257-GC-G c.1119del p.C373* Frameshift 2/2 - 1
5-137803258-AT-CA c.1120_1121delinsCA p.M374Q Missense 2/2 - 2
5-137803260-G-A c.1122G>A p.M374I Missense 2/2 - 2
5-137803260-G-C c.1122G>C p.M374I Missense 2/2 - 1
5-137803260-G-T c.1122G>T p.M374I Missense 2/2 - 1
5-137803262-G-A c.1124G>A p.R375H Missense 2/2 - 1
5-137803264-AA-TT c.1126_1127inv p.N376F Missense 2/2 - 2
5-137803264-A-C c.1126A>C p.N376H Missense 2/2 - 1
5-137803264-AA-CC c.1126_1127delinsCC p.N376P Missense 2/2 - 1
5-137803264-A-T c.1126A>T p.N376Y Missense 2/2 - 2
5-137803264-A-G c.1126A>G p.N376D Missense 2/2 - 2
5-137803264-AA-GT c.1126_1127delinsGT p.N376V Missense 2/2 - 1
5-137803265-A-C c.1127A>C p.N376T Missense 2/2 - 2
5-137803265-A-T c.1127A>T p.N376I Missense 2/2 - 1
5-137803265-A-G c.1127A>G p.N376S Missense 2/2 - 1
5-137803265-AC-TG c.1127_1128delinsTG p.N376M Missense 2/2 - 1
5-137803267-TT-GC c.1129_1130delinsGC p.F377A Missense 2/2 - 1
5-137803268-T-G c.1130T>G p.F377C Missense 2/2 - 1
5-137803266-C-CT c.1130dup p.S378Qfs*33 Frameshift 2/2 - 1
5-137803269-C-T c.1131C>T p.F377= Synonymous 2/2 - 1
5-137803269-C-A c.1131C>A p.F377L Missense 2/2 - 1
5-137803273-C-CA c.1135_1136insA p.R379Qfs*32 Frameshift 2/2 - 1
5-137803276-AG-GC c.1138_1139delinsGC p.S380A Missense 2/2 - 1
5-137803277-G-A c.1139G>A p.S380N Missense 2/2 - 1
5-137803279-G-A c.1141G>A p.D381N Missense 2/2 - 2
5-137803279-G-T c.1141G>T p.D381Y Missense 2/2 - 1
5-137803280-A-C c.1142A>C p.D381A Missense 2/2 - 1
5-137803282-CA-GC c.1144_1145delinsGC p.H382A Missense 2/2 - 2
5-137803282-CAC-GAG c.1144_1146delinsGAG p.H382E Missense 2/2 - 2
5-137803282-CAC-AAG c.1144_1146delinsAAG p.H382K Missense 2/2 - 2
5-137803282-C-T c.1144C>T p.H382Y Missense 2/2 - 1
5-137803283-A-G c.1145A>G p.H382R Missense 2/2 - 2
5-137803289-C-G c.1151C>G p.T384S Missense 2/2 - 1
5-137803288-A-T c.1150A>T p.T384S Missense 2/2 - 1
5-137803290-C-G c.1152C>G p.T384= Synonymous 2/2 - 1
5-137803291-AC-TG c.1153_1154delinsTG p.T385C Missense 2/2 - 1
5-137803291-A-G c.1153A>G p.T385A Missense 2/2 - 1
5-137803292-C-T c.1154C>T p.T385I Missense 2/2 - 2
5-137803292-C-A c.1154C>A p.T385N Missense 2/2 - 1
5-137803293-C-T c.1155C>T p.T385= Synonymous 2/2 - 1
5-137803295-A-C c.1157A>C p.H386P Missense 2/2 - 1
5-137803296-C-T c.1158C>T p.H386= Synonymous 2/2 - 1
5-137803298-T-G c.1160T>G p.I387S Missense 2/2 - 1
5-137803299-C-A c.1161C>A p.I387= Synonymous 2/2 - 2
5-137803299-C-T c.1161C>T p.I387= Synonymous 2/2 - 2
5-137803299-C-G c.1161C>G p.I387M Missense 2/2 - 1
5-137803301-G-A c.1163G>A p.R388H Missense 2/2 - 2
5-137803302-C-G c.1164C>G p.R388= Synonymous 2/2 - 1
5-137803302-C-T c.1164C>T p.R388= Synonymous 2/2 - 1
5-137803306-CACACAGGCG-C c.1170_1178del p.H390_E393delinsQ MultiAAMissense 2/2 - 1
5-137803309-A-G c.1171A>G p.T391A Missense 2/2 - 2
5-137803312-G-A c.1174G>A p.G392S Missense 2/2 - 1
5-137803314-C-G c.1176C>G p.G392= Synonymous 2/2 - 2
5-137803316-A-C c.1178A>C p.E393A Missense 2/2 - 1
5-137803318-AAAG-A c.1180_1182del p.K394del InFrameDeletion 2/2 - 1
5-137803319-A-G c.1181A>G p.K394R Missense 2/2 - 1
5-137803321-GCCC-G c.1183_1185del p.P395del InFrameDeletion 2/2 - 1
5-137803323-C-T c.1185C>T p.P395= Synonymous 2/2 - 2
5-137803323-C-G c.1185C>G p.P395= Synonymous 2/2 - 1
5-137803323-C-A c.1185C>A p.P395= Synonymous 2/2 - 1
5-137803324-T-C c.1186T>C p.F396L Missense 2/2 - 1
5-137803326-C-A c.1188C>A p.F396L Missense 2/2 - 1
5-137803326-C-G c.1188C>G p.F396L Missense 2/2 - 1
5-137803322-CCTT-C c.1186_1188del p.F396del InFrameDeletion 2/2 - 1
5-137803326-C-T c.1188C>T p.F396= Synonymous 2/2 - 1
5-137803327-GC-CT c.1189_1190delinsCT p.A397L Missense 2/2 - 1
5-137803327-G-C c.1189G>C p.A397P Missense 2/2 - 1
5-137803328-C-A c.1190C>A p.A397D Missense 2/2 - 1
5-137803328-CC-AG c.1190_1191delinsAG p.A397E Missense 2/2 - 1
5-137803328-C-T c.1190C>T p.A397V Missense 2/2 - 1
5-137803327-GC-G c.1191del p.C398Afs*134 Frameshift 2/2 - 1
5-137803329-C-T c.1191C>T p.A397= Synonymous 2/2 - 1
5-137803329-C-A c.1191C>A p.A397= Synonymous 2/2 - 1
5-137803326-CGCCT-C c.1191_1194del p.C398Tfs*133 Frameshift 2/2 - 1
5-137803330-T-A c.1192T>A p.C398S Missense 2/2 - 1
5-137803331-G-C c.1193G>C p.C398S Missense 2/2 - 1
5-137803333-GAC-ATG c.1195_1197delinsATG p.D399M Missense 2/2 - 1
5-137803334-A-T c.1196A>T p.D399V Missense 2/2 - 1
5-137803334-A-G c.1196A>G p.D399G Missense 2/2 - 1
5-137803335-C-G c.1197C>G p.D399E Missense 2/2 - 1
5-137803335-C-A c.1197C>A p.D399E Missense 2/2 - 1
5-137803338-C-A c.1200C>A p.I400= Synonymous 2/2 - 1
5-137803338-C-T c.1200C>T p.I400= Synonymous 2/2 - 1
5-137803339-TG-AC c.1201_1202delinsAC p.C401T Missense 2/2 - 2
5-137803340-G-GA c.1202_1203insA p.C401* Nonsense 2/2 - 1
5-137803342-G-A c.1204G>A p.G402R Missense 2/2 - 1
5-137803342-G-C c.1204G>C p.G402R Missense 2/2 - 1
5-137803343-G-C c.1205G>C p.G402A Missense 2/2 - 1
5-137803343-G-A c.1205G>A p.G402E Missense 2/2 - 1
5-137803343-G-T c.1205G>T p.G402V Missense 2/2 - 1
5-137803345-AGA-TGG c.1207_1209delinsTGG p.R403W Missense 2/2 - 3
5-137803345-AGA-TGT c.1207_1209delinsTGT p.R403C Missense 2/2 - 2
5-137803345-AG-CA c.1207_1208delinsCA p.R403Q Missense 2/2 - 3
5-137803345-A-G c.1207A>G p.R403G Missense 2/2 - 1
5-137803346-G-A c.1208G>A p.R403K Missense 2/2 - 3
5-137803346-G-C c.1208G>C p.R403T Missense 2/2 - 1
5-137803348-AAG-TAT c.1210_1212delinsTAT p.K404Y Missense 2/2 - 1
5-137803349-AG-TC c.1211_1212delinsTC p.K404I Missense 2/2 - 2
5-137803349-A-C c.1211A>C p.K404T Missense 2/2 - 2
5-137803351-T-C c.1213T>C p.F405L Missense 2/2 - 5
5-137803351-TT-GC c.1213_1214delinsGC p.F405A Missense 2/2 - 2
5-137803353-T-A c.1215T>A p.F405L Missense 2/2 - 4
5-137803353-T-G c.1215T>G p.F405L Missense 2/2 - 4
5-137803351-TT-AC c.1213_1214delinsAC p.F405T Missense 2/2 - 1
5-137803352-TTTGCCAG-T c.1214_1220del p.F405* Frameshift 2/2 - 1
5-137803352-T-C c.1214T>C p.F405S Missense 2/2 - 1
5-137803352-T-G c.1214T>G p.F405C Missense 2/2 - 1
5-137803354-G-A c.1216G>A p.A406T Missense 2/2 - 1
5-137803355-C-T c.1217C>T p.A406V Missense 2/2 - 3
5-137803357-AGG-CAT c.1219_1221delinsCAT p.R407H Missense 2/2 - 1
5-137803359-G-A c.1221G>A p.R407= Synonymous 2/2 - 1
5-137803357-A-C c.1219A>C p.R407= Synonymous 2/2 - 1
5-137803360-A-G c.1222A>G p.S408G Missense 2/2 - 1
5-137803361-G-A c.1223G>A p.S408N Missense 2/2 - 1
5-137803363-G-C c.1225G>C p.D409H Missense 2/2 - 11
5-137803364-A-G c.1226A>G p.D409G Missense 2/2 - 1
5-137803364-A-T c.1226A>T p.D409V Missense 2/2 - 3
5-137803366-GAA-CAT c.1228_1230delinsCAT p.E410H Missense 2/2 - 2
5-137803366-G-A c.1228G>A p.E410K Missense 2/2 - 1
5-137803369-CGC-AAG c.1231_1233delinsAAG p.R411K Missense 2/2 - 2
5-137803369-CG-GC c.1231_1232delinsGC p.R411A Missense 2/2 - 1
5-137803369-C-T c.1231C>T p.R411C Missense 2/2 - 1
5-137803370-GC-AA c.1232_1233delinsAA p.R411Q Missense 2/2 - 1
5-137803370-G-T c.1232G>T p.R411L Missense 2/2 - 1
5-137803370-G-A c.1232G>A p.R411H Missense 2/2 - 1
5-137803372-A-G c.1234A>G p.K412E Missense 2/2 - 1
5-137803374-G-C c.1236G>C p.K412N Missense 2/2 - 1
5-137803374-G-A c.1236G>A p.K412= Synonymous 2/2 - 1
5-137803375-AG-GC c.1237_1238delinsGC p.R413A Missense 2/2 - 2
5-137803375-AGG-GAC c.1237_1239delinsGAC p.R413D Missense 2/2 - 1
5-137803375-AG-CA c.1237_1238delinsCA p.R413Q Missense 2/2 - 1
5-137803378-C-T c.1240C>T p.H414Y Missense 2/2 - 1
5-137803379-A-T c.1241A>T p.H414L Missense 2/2 - 1
5-137803379-CATA-C c.1241_1243del p.H414_T415delinsP MultiAAMissense 2/2 - 1
5-137803381-A-G c.1243A>G p.T415A Missense 2/2 - 2
5-137803382-CC-GG c.1244_1245inv p.T415R Missense 2/2 - 1
5-137803382-C-T c.1244C>T p.T415I Missense 2/2 - 1
5-137803382-CC-TG c.1244_1245delinsTG p.T415M Missense 2/2 - 1
5-137803383-CCA-C c.1245_1246del p.K416Dfs*125 Frameshift 2/2 - 1
5-137803389-C-G c.1251C>G p.I417M Missense 2/2 - 1
5-137803392-C-A c.1254C>A p.H418Q Missense 2/2 - 1
5-137803393-TT-CC c.1255_1256delinsCC p.L419P Missense 2/2 - 1
5-137803394-T-C c.1256T>C p.L419S Missense 2/2 - 1
5-137803395-G-T c.1257G>T p.L419F Missense 2/2 - 1
5-137803395-G-C c.1257G>C p.L419F Missense 2/2 - 2
5-137803396-CGG-TGT c.1258_1260delinsTGT p.R420C Missense 2/2 - 1
5-137803396-C-T c.1258C>T p.R420W Missense 2/2 - 1
5-137803397-G-A c.1259G>A p.R420Q Missense 2/2 - 1
5-137803399-C-A c.1261C>A p.Q421K Missense 2/2 - 1
5-137803399-C-T c.1261C>T p.Q421* Nonsense 2/2 - 1
5-137803400-A-C c.1262A>C p.Q421P Missense 2/2 - 1
5-137803402-AA-GC c.1264_1265delinsGC p.K422A Missense 2/2 - 1
5-137803404-G-C c.1266G>C p.K422N Missense 2/2 - 1
5-137803404-AGGAC-A c.1266_1269del p.D423Rfs*108 Frameshift 2/2 - 1
5-137803408-AA-GC c.1270_1271delinsGC p.K424A Missense 2/2 - 1
5-137803409-A-G c.1271A>G p.K424R Missense 2/2 - 1
5-137803410-GAAAGC-G c.1274_1278del p.K425Rfs*115 Frameshift 2/2 - 1
5-137803413-A-C c.1275A>C p.K425N Missense 2/2 - 1
5-137803413-A-T c.1275A>T p.K425N Missense 2/2 - 1
5-137803417-G-C c.1279G>C p.D427H Missense 2/2 - 1
5-137803417-G-A c.1279G>A p.D427N Missense 2/2 - 1
5-137803418-A-C c.1280A>C p.D427A Missense 2/2 - 1
5-137803423-AGT-TGA c.1285_1287delinsTGA p.S429* Nonsense 2/2 - 1
5-137803419-CA-C c.1285del p.S429Vfs*103 Frameshift 2/2 - 1
5-137803423-A-T c.1285A>T p.S429C Missense 2/2 - 1
5-137803425-T-C c.1287T>C p.S429= Synonymous 2/2 - 1
5-137803426-G-T c.1288G>T p.V430F Missense 2/2 - 1
5-137803426-GTT-ATG c.1288_1290delinsATG p.V430M Missense 2/2 - 1
5-137803427-T-C c.1289T>C p.V430A Missense 2/2 - 3
5-137803429-G-C c.1291G>C p.V431L Missense 2/2 - 1
5-137803429-G-T c.1291G>T p.V431L Missense 2/2 - 1
5-137803427-TTG-T c.1292_1293del p.V431Gfs*110 Frameshift 2/2 - 1
5-137803430-T-C c.1292T>C p.V431A Missense 2/2 - 1
5-137803432-G-A c.1294G>A p.A432T Missense 2/2 - 2
5-137803432-GC-CG c.1294_1295delinsCG p.A432R Missense 2/2 - 1
5-137803433-C-A c.1295C>A p.A432D Missense 2/2 - 2
5-137803433-C-T c.1295C>T p.A432V Missense 2/2 - 2
5-137803433-CC-AG c.1295_1296delinsAG p.A432E Missense 2/2 - 1
5-137803434-C-G c.1296C>G p.A432= Synonymous 2/2 - 1
5-137803434-C-T c.1296C>T p.A432= Synonymous 2/2 - 1
5-137803435-TC-GA c.1297_1298inv p.S433D Missense 2/2 - 3
5-137803435-T-G c.1297T>G p.S433A Missense 2/2 - 2
5-137803435-T-C c.1297T>C p.S433P Missense 2/2 - 1
5-137803435-TC-CT c.1297_1298delinsCT p.S433L Missense 2/2 - 1
5-137803436-C-T c.1298C>T p.S433F Missense 2/2 - 1
5-137803439-CG-GT c.1301_1302delinsGT p.S434C Missense 2/2 - 1
5-137803440-G-C c.1302G>C p.S434= Synonymous 2/2 - 1
5-137803441-G-C c.1303G>C p.A435P Missense 2/2 - 1
5-137803441-GCC-TGG c.1303_1305delinsTGG p.A435W Missense 2/2 - 1
5-137803439-CG-C c.1303del p.A435Pfs*97 Frameshift 2/2 - 1
5-137803441-GC-CT c.1303_1304delinsCT p.A435L Missense 2/2 - 1
5-137803442-C-T c.1304C>T p.A435V Missense 2/2 - 2
5-137803442-C-A c.1304C>A p.A435D Missense 2/2 - 1
5-137803444-A-C c.1306A>C p.T436P Missense 2/2 - 1
5-137803444-A-G c.1306A>G p.T436A Missense 2/2 - 1
5-137803446-C-G c.1308C>G p.T436= Synonymous 2/2 - 1
5-137803447-T-G c.1309T>G p.S437A Missense 2/2 - 1
5-137803449-C-T c.1311C>T p.S437= Synonymous 2/2 - 1
5-137803450-TC-GA c.1312_1313inv p.S438D Missense 2/2 - 1
5-137803451-C-G c.1313C>G p.S438C Missense 2/2 - 1
5-137803453-CT-TG c.1315_1316delinsTG p.L439C Missense 2/2 - 1
5-137803454-T-A c.1316T>A p.L439H Missense 2/2 - 2
5-137803454-T-G c.1316T>G p.L439R Missense 2/2 - 1
5-137803456-T-G c.1318T>G p.S440A Missense 2/2 - 1
5-137803456-CT-C c.1318del p.S440Lfs*92 Frameshift 2/2 - 1
5-137803457-C-T c.1319C>T p.S440F Missense 2/2 - 2
5-137803462-TA-CT c.1324_1325delinsCT p.Y442L Missense 2/2 - 1
5-137803465-C-T c.1327C>T p.P443S Missense 2/2 - 1
5-137803468-T-G c.1330T>G p.S444A Missense 2/2 - 1
5-137803470-C-G c.1332C>G p.S444= Synonymous 2/2 - 1
5-137803471-C-T c.1333C>T p.P445S Missense 2/2 - 1
5-137803473-G-C c.1335G>C p.P445= Synonymous 2/2 - 1
5-137803473-G-A c.1335G>A p.P445= Synonymous 2/2 - 1
5-137803474-G-T c.1336G>T p.V446F Missense 2/2 - 1
5-137803480-AC-CT c.1342_1343delinsCT p.T448L Missense 2/2 - 1
5-137803481-ACCTCTTACCCG-A c.1343_1353del p.T448Ifs*90 Frameshift 2/2 - 1
5-137803481-C-A c.1343C>A p.T448N Missense 2/2 - 1
5-137803481-C-T c.1343C>T p.T448I Missense 2/2 - 1
5-137803483-T-G c.1345T>G p.S449A Missense 2/2 - 2
5-137803485-T-TA c.1347_1348insA p.Y450Ifs*92 Frameshift 2/2 - 2
5-137803487-A-G c.1349A>G p.Y450C Missense 2/2 - 1
5-137803488-C-A c.1350C>A p.Y450* Nonsense 2/2 - 1
5-137803488-C-G c.1350C>G p.Y450* Nonsense 2/2 - 1
5-137803489-C-G c.1351C>G p.P451A Missense 2/2 - 1
5-137803489-C-T c.1351C>T p.P451S Missense 2/2 - 1
5-137803490-C-T c.1352C>T p.P451L Missense 2/2 - 2
5-137803495-C-A c.1357C>A p.P453T Missense 2/2 - 1
5-137803496-C-T c.1358C>T p.P453L Missense 2/2 - 4
5-137803498-GT-AG c.1360_1361delinsAG p.V454S Missense 2/2 - 1
5-137803499-T-C c.1361T>C p.V454A Missense 2/2 - 1
5-137803501-A-T c.1363A>T p.T455S Missense 2/2 - 2
5-137803502-C-G c.1364C>G p.T455S Missense 2/2 - 1
5-137803504-AC-TT c.1366_1367delinsTT p.T456F Missense 2/2 - 2
5-137803505-C-T c.1367C>T p.T456I Missense 2/2 - 2
5-137803505-C-A c.1367C>A p.T456N Missense 2/2 - 1
5-137803507-T-G c.1369T>G p.S457A Missense 2/2 - 1
5-137803504-ACCTCTTATCCATCCCCGGCCACCACCTCATAC-A c.1369_1400del p.S457Ifs*74 Frameshift 2/2 - 1
5-137803508-C-G c.1370C>G p.S457C Missense 2/2 - 3
5-137803508-C-A c.1370C>A p.S457Y Missense 2/2 - 1
5-137803513-CC-AT c.1375_1376delinsAT p.P459I Missense 2/2 - 1
5-137803516-TC-AA c.1378_1379delinsAA p.S460N Missense 2/2 - 3
5-137803516-TCC-CAA c.1378_1380delinsCAA p.S460Q Missense 2/2 - 1
5-137803516-TCC-ATG c.1378_1380delinsATG p.S460M Missense 2/2 - 1
5-137803517-C-A c.1379C>A p.S460Y Missense 2/2 - 1
5-137803517-C-T c.1379C>T p.S460F Missense 2/2 - 1
5-137803519-C-G c.1381C>G p.P461A Missense 2/2 - 1
5-137803517-CCCCGGCCACCACCTCATA-C c.1383_1400del p.A462_P467del InFrameDeletion 2/2 - 1
5-137803517-CCCCGGCCACCACCTCATACCCAT-C c.1383_1405del p.A462Cfs*72 Frameshift 2/2 - 1
5-137803522-G-T c.1384G>T p.A462S Missense 2/2 - 1
5-137803522-G-A c.1384G>A p.A462T Missense 2/2 - 1
5-137803527-C-G c.1389C>G p.T463= Synonymous 2/2 - 1
5-137803528-AC-TG c.1390_1391delinsTG p.T464C Missense 2/2 - 1
5-137803528-AC-TT c.1390_1391delinsTT p.T464F Missense 2/2 - 1
5-137803529-C-T c.1391C>T p.T464I Missense 2/2 - 1
5-137803530-C-A c.1392C>A p.T464= Synonymous 2/2 - 1
5-137803531-T-G c.1393T>G p.S465A Missense 2/2 - 1
5-137803531-TCA-GAC c.1393_1395delinsGAC p.S465D Missense 2/2 - 1
5-137803531-CT-C c.1393del p.S465Hfs*67 Frameshift 2/2 - 1
5-137803531-TCATACCCATCCCCTGT-A c.1393_1409delinsA p.Y466Pfs*61 Frameshift 2/2 - 1
5-137803532-C-T c.1394C>T p.S465L Missense 2/2 - 1
5-137803535-A-G c.1397A>G p.Y466C Missense 2/2 - 1
5-137803537-C-T c.1399C>T p.P467S Missense 2/2 - 1
5-137803535-A-AC c.1400dup p.S468Ifs*74 Frameshift 2/2 - 1
5-137803538-C-T c.1400C>T p.P467L Missense 2/2 - 3
5-137803538-C-G c.1400C>G p.P467R Missense 2/2 - 1
5-137803539-A-G c.1401A>G p.P467= Synonymous 2/2 - 1
5-137803540-T-C c.1402T>C p.S468P Missense 2/2 - 1
5-137803540-TC-CG c.1402_1403delinsCG p.S468R Missense 2/2 - 1
5-137803541-C-G c.1403C>G p.S468C Missense 2/2 - 1
5-137803542-C-A c.1404C>A p.S468= Synonymous 2/2 - 1
5-137803544-C-A c.1406C>A p.P469H Missense 2/2 - 1
5-137803545-T-C c.1407T>C p.P469= Synonymous 2/2 - 1
5-137803546-GT-TC c.1408_1409delinsTC p.V470S Missense 2/2 - 1
5-137803547-T-C c.1409T>C p.V470A Missense 2/2 - 1
5-137803549-C-T c.1411C>T p.P471S Missense 2/2 - 1
5-137803555-TC-GA c.1417_1418inv p.S473D Missense 2/2 - 2
5-137803555-T-G c.1417T>G p.S473A Missense 2/2 - 1
5-137803555-T-A c.1417T>A p.S473T Missense 2/2 - 1
5-137803555-TC-GT c.1417_1418delinsGT p.S473V Missense 2/2 - 1
5-137803557-C-A c.1419C>A p.S473= Synonymous 2/2 - 1
5-137803558-T-A c.1420T>A p.F474I Missense 2/2 - 1
5-137803558-T-C c.1420T>C p.F474L Missense 2/2 - 1
5-137803559-T-C c.1421T>C p.F474S Missense 2/2 - 1
5-137803561-T-G c.1423T>G p.S475A Missense 2/2 - 1
5-137803563-C-G c.1425C>G p.S475= Synonymous 2/2 - 1
5-137803563-C-T c.1425C>T p.S475= Synonymous 2/2 - 1
5-137803565-C-G c.1427C>G p.S476C Missense 2/2 - 2
5-137803566-T-A c.1428T>A p.S476= Synonymous 2/2 - 1
5-137803567-C-A c.1429C>A p.P477T Missense 2/2 - 2
5-137803568-C-T c.1430C>T p.P477L Missense 2/2 - 1
5-137803566-TC-T c.1431del p.G478Afs*54 Frameshift 2/2 - 1
5-137803569-C-G c.1431C>G p.P477= Synonymous 2/2 - 1
5-137803570-G-T c.1432G>T p.G478C Missense 2/2 - 1
5-137803570-G-A c.1432G>A p.G478S Missense 2/2 - 2
5-137803571-G-A c.1433G>A p.G478D Missense 2/2 - 1
5-137803575-C-T c.1437C>T p.S479= Synonymous 2/2 - 1
5-137803580-C-G c.1442C>G p.T481S Missense 2/2 - 1
5-137803579-A-T c.1441A>T p.T481S Missense 2/2 - 1
5-137803583-A-C c.1445A>C p.Y482S Missense 2/2 - 1
5-137803585-C-T c.1447C>T p.P483S Missense 2/2 - 1
5-137803586-C-T c.1448C>T p.P483L Missense 2/2 - 1
5-137803588-TC-CT c.1450_1451delinsCT p.S484L Missense 2/2 - 1
5-137803588-T-A c.1450T>A p.S484T Missense 2/2 - 1
5-137803591-C-T c.1453C>T p.P485S Missense 2/2 - 1
5-137803592-CCT-C c.1454_1455del p.P485Rfs*56 Frameshift 2/2 - 1
5-137803593-CT-C c.1455del p.V486Cfs*46 Frameshift 2/2 - 1
5-137803594-G-C c.1456G>C p.V486L Missense 2/2 - 1
5-137803594-G-T c.1456G>T p.V486L Missense 2/2 - 1
5-137803595-T-C c.1457T>C p.V486A Missense 2/2 - 1
5-137803596-TG-T c.1458del p.H487Tfs*45 Frameshift 2/2 - 1
5-137803600-AG-TT c.1462_1463delinsTT p.S488F Missense 2/2 - 1
5-137803600-AG-GC c.1462_1463delinsGC p.S488A Missense 2/2 - 1
5-137803601-G-C c.1463G>C p.S488T Missense 2/2 - 3
5-137803601-G-A c.1463G>A p.S488N Missense 2/2 - 2
5-137803603-G-T c.1465G>T p.G489C Missense 2/2 - 1
5-137803604-G-A c.1466G>A p.G489D Missense 2/2 - 1
5-137803606-T-C c.1468T>C p.F490L Missense 2/2 - 7
5-137803608-C-A c.1470C>A p.F490L Missense 2/2 - 7
5-137803608-C-G c.1470C>G p.F490L Missense 2/2 - 7
5-137803606-TT-CC c.1468_1469delinsCC p.F490P Missense 2/2 - 3
5-137803606-TT-GC c.1468_1469delinsGC p.F490A Missense 2/2 - 1
5-137803606-TTC-AAG c.1468_1470delinsAAG p.F490K Missense 2/2 - 2
5-137803606-T-A c.1468T>A p.F490I Missense 2/2 - 1
5-137803607-T-C c.1469T>C p.F490S Missense 2/2 - 17
5-137803610-C-G c.1472C>G p.P491R Missense 2/2 - 1
5-137803610-C-T c.1472C>T p.P491L Missense 2/2 - 1
5-137803610-CC-AA c.1472_1473delinsAA p.P491Q Missense 2/2 - 1
5-137803607-TC-T c.1473del p.S492Pfs*40 Frameshift 2/2 - 1
5-137803612-TC-AA c.1474_1475delinsAA p.S492N Missense 2/2 - 1
5-137803613-C-G c.1475C>G p.S492C Missense 2/2 - 1
5-137803614-C-G c.1476C>G p.S492= Synonymous 2/2 - 1
5-137803615-CCG-TGT c.1477_1479delinsTGT p.P493C Missense 2/2 - 1
5-137803616-C-G c.1478C>G p.P493R Missense 2/2 - 1
5-137803618-T-C c.1480T>C p.S494P Missense 2/2 - 17
5-137803618-T-G c.1480T>G p.S494A Missense 2/2 - 1
5-137803619-C-T c.1481C>T p.S494L Missense 2/2 - 1
5-137803619-CG-GT c.1481_1482delinsGT p.S494C Missense 2/2 - 1
5-137803619-C-CG c.1483dup p.V495Gfs*47 Frameshift 2/2 - 1
5-137803621-G-C c.1483G>C p.V495L Missense 2/2 - 1
5-137803622-T-G c.1484T>G p.V495G Missense 2/2 - 1
5-137803623-G-T c.1485G>T p.V495= Synonymous 2/2 - 1
5-137803625-C-A c.1487C>A p.A496D Missense 2/2 - 1
5-137803628-C-T c.1490C>T p.T497I Missense 2/2 - 1
5-137803630-A-G c.1492A>G p.T498A Missense 2/2 - 1
5-137803631-C-T c.1493C>T p.T498M Missense 2/2 - 1
5-137803633-TA-AC c.1495_1496delinsAC p.Y499T Missense 2/2 - 1
5-137803638-C-A c.1500C>A p.S500= Synonymous 2/2 - 1
5-137803638-C-G c.1500C>G p.S500= Synonymous 2/2 - 1
5-137803638-C-T c.1500C>T p.S500= Synonymous 2/2 - 1
5-137803640-C-T c.1502C>T p.S501F Missense 2/2 - 1
5-137803642-GT-AG c.1504_1505delinsAG p.V502S Missense 2/2 - 1
5-137803644-T-C c.1506T>C p.V502= Synonymous 2/2 - 1
5-137803647-C-A c.1509C>A p.P503= Synonymous 2/2 - 1
5-137803648-C-T c.1510C>T p.P504S Missense 2/2 - 2
5-137803649-C-T c.1511C>T p.P504L Missense 2/2 - 2
5-137803652-C-T c.1514C>T p.A505V Missense 2/2 - 1
5-137803652-C-A c.1514C>A p.A505D Missense 2/2 - 1
5-137803654-T-C c.1516T>C p.F506L Missense 2/2 - 3
5-137803655-T-G c.1517T>G p.F506C Missense 2/2 - 1
5-137803663-CA-GC c.1525_1526delinsGC p.Q509A Missense 2/2 - 1
5-137803664-A-T c.1526A>T p.Q509L Missense 2/2 - 1
5-137803665-G-T c.1527G>T p.Q509H Missense 2/2 - 1
5-137803665-G-C c.1527G>C p.Q509H Missense 2/2 - 1
5-137803666-GTC-ATG c.1528_1530delinsATG p.V510M Missense 2/2 - 1
5-137803666-GT-AG c.1528_1529delinsAG p.V510S Missense 2/2 - 1
5-137803666-GGTC-G c.1528_1530del p.V510del InFrameDeletion 2/2 - 1
5-137803667-TC-AG c.1529_1530delinsAG p.V510E Missense 2/2 - 1
5-137803668-C-A c.1530C>A p.V510= Synonymous 2/2 - 2
5-137803668-C-G c.1530C>G p.V510= Synonymous 2/2 - 2
5-137803668-C-T c.1530C>T p.V510= Synonymous 2/2 - 2
5-137803672-AG-TT c.1534_1535delinsTT p.S512F Missense 2/2 - 1
5-137803672-AG-CT c.1534_1535inv p.S512L Missense 2/2 - 1
5-137803672-AG-GA c.1534_1535delinsGA p.S512D Missense 2/2 - 1
5-137803673-G-C c.1535G>C p.S512T Missense 2/2 - 1
5-137803678-C-T c.1540C>T p.P514S Missense 2/2 - 1
5-137803679-C-T c.1541C>T p.P514L Missense 2/2 - 2
5-137803680-T-C c.1542T>C p.P514= Synonymous 2/2 - 1
5-137803681-T-C c.1543T>C p.S515P Missense 2/2 - 1
5-137803681-TC-AA c.1543_1544delinsAA p.S515N Missense 2/2 - 2
5-137803682-C-T c.1544C>T p.S515F Missense 2/2 - 1
5-137803682-C-G c.1544C>G p.S515C Missense 2/2 - 1
5-137803683-C-T c.1545C>T p.S515= Synonymous 2/2 - 1
5-137803683-C-CT c.1546dup p.S516Ffs*26 Frameshift 2/2 - 1
5-137803684-TCA-GAC c.1546_1548delinsGAC p.S516D Missense 2/2 - 1
5-137803686-CA-C c.1548del p.A517Lfs*15 Frameshift 2/2 - 1
5-137803686-A-AC c.1548_1549insC p.A517Rfs*25 Frameshift 2/2 - 1
5-137803687-G-A c.1549G>A p.A517T Missense 2/2 - 1
5-137803690-G-A c.1552G>A p.V518I Missense 2/2 - 1
5-137803690-GT-AG c.1552_1553delinsAG p.V518S Missense 2/2 - 1
5-137803691-T-A c.1553T>A p.V518D Missense 2/2 - 1
5-137803693-AC-TA c.1555_1556delinsTA p.T519Y Missense 2/2 - 1
5-137803693-AC-TG c.1555_1556delinsTG p.T519C Missense 2/2 - 1
5-137803694-C-T c.1556C>T p.T519I Missense 2/2 - 1
5-137803694-CC-TG c.1556_1557delinsTG p.T519M Missense 2/2 - 1
5-137803695-C-A c.1557C>A p.T519= Synonymous 2/2 - 1
5-137803695-C-G c.1557C>G p.T519= Synonymous 2/2 - 1
5-137803695-C-T c.1557C>T p.T519= Synonymous 2/2 - 1
5-137803693-AC-A c.1557del p.N520Tfs*12 Frameshift 2/2 - 1
5-137803699-T-C c.1561T>C p.S521P Missense 2/2 - 1
5-137803700-C-T c.1562C>T p.S521F Missense 2/2 - 1
5-137803702-T-C c.1564T>C p.F522L Missense 2/2 - 1
5-137803702-T-A c.1564T>A p.F522I Missense 2/2 - 1
5-137803703-T-C c.1565T>C p.F522S Missense 2/2 - 1
5-137803705-AG-CC c.1567_1568delinsCC p.S523P Missense 2/2 - 1
5-137803717-GG-CC c.1579_1580inv p.G527P Missense 2/2 - 1
5-137803718-G-A c.1580G>A p.G527E Missense 2/2 - 1
5-137803718-G-C c.1580G>C p.G527A Missense 2/2 - 1
5-137803719-GGCTTTCGGAC-G c.1581_1590del p.L528* Frameshift 2/2 - 1
5-137803720-CTT-GAG c.1582_1584delinsGAG p.L528E Missense 2/2 - 1
5-137803720-C-T c.1582C>T p.L528F Missense 2/2 - 1
5-137803724-CG-TT c.1586_1587delinsTT p.S529F Missense 2/2 - 1
5-137803729-AT-GC c.1591_1592delinsGC p.M531A Missense 2/2 - 1
5-137803731-G-C c.1593G>C p.M531I Missense 2/2 - 1
5-137803731-G-A c.1593G>A p.M531I Missense 2/2 - 1
5-137803731-G-T c.1593G>T p.M531I Missense 2/2 - 1
5-137803732-A-C c.1594A>C p.T532P Missense 2/2 - 1
5-137803734-A-C c.1596A>C p.T532= Synonymous 2/2 - 1
5-137803735-G-A c.1597G>A p.A533T Missense 2/2 - 1
5-137803736-C-T c.1598C>T p.A533V Missense 2/2 - 1
5-137803736-C-G c.1598C>G p.A533G Missense 2/2 - 1
5-137803737-A-T c.1599A>T p.A533= Synonymous 2/2 - 1
5-137803737-A-G c.1599A>G p.A533= Synonymous 2/2 - 1
5-137803739-C-A c.1601C>A p.T534N Missense 2/2 - 1
5-137803741-T-A c.1603T>A p.F535I Missense 2/2 - 1
5-137803744-T-A c.1606T>A p.S536T Missense 2/2 - 1
5-137803744-T-C c.1606T>C p.S536P Missense 2/2 - 1
5-137803745-C-T c.1607C>T p.S536F Missense 2/2 - 1
5-137803746-T-A c.1608T>A p.S536= Synonymous 2/2 - 1
5-137803750-A-G c.1612A>G p.R538G Missense 2/2 - 1
5-137803750-AGG-CAT c.1612_1614delinsCAT p.R538H Missense 2/2 - 1
5-137803751-G-A c.1613G>A p.R538K Missense 2/2 - 1
5-137803753-A-G c.1615A>G p.T539A Missense 2/2 - 1
5-137803762-A-C c.1624A>C p.I542L Missense 2/2 - 1
5-137803764-T-C c.1626T>C p.I542= Synonymous 2/2 - 1
5-137803764-T-A c.1626T>A p.I542= Synonymous 2/2 - 1
5-137804635-T-A c.*865T>A - 3-UTRSNV 2/2 - 2
5-137804635-T-C c.*865T>C - 3-UTRSNV 2/2 - 2