TG thyroglobulin

Annotation transcript: NM_003235.5

3209 unique variant annotations were identified in 2209 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
8-133879246-A-G c.1A>G p.M1? Missense 1/48 - 4
8-133879246-A-C c.1A>C p.M1? Missense 1/48 - 1
8-133879242-G-GA c.1dup p.M1? CdsStartInsertion 1/48 - 1
8-133879247-T-C c.2T>C p.M1? Missense 1/48 - 4
8-133879248-G-A c.3G>A p.M1? Missense 1/48 - 1
8-133879247-TG-T c.4del p.A2Pfs*42 Frameshift 1/48 - 1
8-133879249-G-A c.4G>A p.A2T Missense 1/48 - 1
8-133879251-C-A c.6C>A p.A2= Synonymous 1/48 - 5
8-133879251-C-G c.6C>G p.A2= Synonymous 1/48 - 5
8-133879251-C-T c.6C>T p.A2= Synonymous 1/48 - 5
8-133879253-T-TTTG c.8_9insTTG p.L3_V4insW InFrameInsertion 1/48 - 1
8-133879254-G-T c.9G>T p.L3= Synonymous 1/48 - 3
8-133879254-G-A c.9G>A p.L3= Synonymous 1/48 - 3
8-133879254-G-C c.9G>C p.L3= Synonymous 1/48 - 3
8-133879252-C-T c.7C>T p.L3= Synonymous 1/48 - 3
8-133879255-GT-AA c.10_11delinsAA p.V4N Missense 1/48 - 1
8-133879255-G-A c.10G>A p.V4I Missense 1/48 - 3
8-133879255-GTC-ATG c.10_12delinsATG p.V4M Missense 1/48 - 1
8-133879256-GTCCTGGAGATCTTCACCCTGCTGGCCTCCATCTGCTGGGTGTCGGCCAATATCTTCGGT-G c.11_67+2del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 1
8-133879257-TCC-T c.12_13del p.L5Gfs*30 Frameshift 1/48 - 1
8-133879257-C-T c.12C>T p.V4= Synonymous 1/48 - 1
8-133879257-C-A c.12C>A p.V4= Synonymous 1/48 - 1
8-133879257-C-G c.12C>G p.V4= Synonymous 1/48 - 1
8-133879259-T-G c.14T>G p.L5R Missense 1/48 - 1
8-133879261-GAG-TTT c.16_18delinsTTT p.E6F Missense 1/48 - 1
8-133879262-A-T c.17A>T p.E6V Missense 1/48 - 1
8-133879263-G-T c.18G>T p.E6D Missense 1/48 - 1
8-133879263-G-A c.18G>A p.E6= Synonymous 1/48 - 1
8-133879266-C-T c.21C>T p.I7= Synonymous 1/48 - 1
8-133879269-C-T c.24C>T p.F8= Synonymous 1/48 - 2
8-133879270-A-G c.25A>G p.T9A Missense 1/48 - 1
8-133879271-C-T c.26C>T p.T9I Missense 1/48 - 2
8-133879273-CT-GC c.28_29delinsGC p.L10A Missense 1/48 - 11
8-133879270-AC-A c.28del p.L10Cfs*34 Frameshift 1/48 - 1
8-133879273-CT-AA c.28_29delinsAA p.L10K Missense 1/48 - 4
8-133879273-CT-GA c.28_29delinsGA p.L10E Missense 1/48 - 2
8-133879273-CTG-ATC c.28_30delinsATC p.L10I Missense 1/48 - 2
8-133879273-CTG-TGT c.28_30delinsTGT p.L10C Missense 1/48 - 1
8-133879273-CT-TA c.28_29delinsTA p.L10* Nonsense 1/48 - 1
8-133879274-T-C c.29T>C p.L10P Missense 1/48 - 9
8-133879274-T-G c.29T>G p.L10R Missense 1/48 - 1
8-133879274-T-TG c.30dup p.L11Afs*25 Frameshift 1/48 - 1
8-133879276-CTG-ATC c.31_33delinsATC p.L11I Missense 1/48 - 1
8-133879276-CTG-TAT c.31_33delinsTAT p.L11Y Missense 1/48 - 1
8-133879277-T-C c.32T>C p.L11P Missense 1/48 - 1
8-133879279-GC-TT c.34_35delinsTT p.A12F Missense 1/48 - 4
8-133879279-GC-CT c.34_35delinsCT p.A12L Missense 1/48 - 2
8-133879279-G-A c.34G>A p.A12T Missense 1/48 - 3
8-133879279-GCC-TGG c.34_36delinsTGG p.A12W Missense 1/48 - 2
8-133879279-GCC-TAA c.34_36delinsTAA p.A12* Nonsense 1/48 - 1
8-133879279-G-C c.34G>C p.A12P Missense 1/48 - 1
8-133879279-GC-TG c.34_35delinsTG p.A12C Missense 1/48 - 1
8-133879279-GC-AT c.34_35delinsAT p.A12I Missense 1/48 - 1
8-133879280-C-A c.35C>A p.A12D Missense 1/48 - 3
8-133879280-C-G c.35C>G p.A12G Missense 1/48 - 2
8-133879280-CC-AG c.35_36delinsAG p.A12E Missense 1/48 - 4
8-133879280-C-T c.35C>T p.A12V Missense 1/48 - 1
8-133879281-C-A c.36C>A p.A12= Synonymous 1/48 - 14
8-133879281-C-G c.36C>G p.A12= Synonymous 1/48 - 17
8-133879281-C-T c.36C>T p.A12= Synonymous 1/48 - 17
8-133879281-C-CG c.36_37insG p.S13Vfs*23 Frameshift 1/48 - 1
8-133879279-GC-G c.36del p.S13Pfs*31 Frameshift 1/48 - 1
8-133879280-C-CCGGAGT c.36_37insGGAGTC p.A12_S13insGV InFrameInsertion 1/48 - 1
8-133879282-T-G c.37T>G p.S13A Missense 1/48 - 108
8-133879282-TCC-AAG c.37_39delinsAAG p.S13K Missense 1/48 - 1
8-133879282-TC-CT c.37_38delinsCT p.S13L Missense 1/48 - 1
8-133879282-TCC-GAG c.37_39delinsGAG p.S13E Missense 1/48 - 16
8-133879282-TC-CA c.37_38delinsCA p.S13H Missense 1/48 - 3
8-133879282-TC-GG c.37_38delinsGG p.S13G Missense 1/48 - 7
8-133879282-TC-GA c.37_38inv p.S13D Missense 1/48 - 24
8-133879282-T-A c.37T>A p.S13T Missense 1/48 - 2
8-133879282-TC-AT c.37_38delinsAT p.S13I Missense 1/48 - 10
8-133879282-TCC-ATG c.37_39delinsATG p.S13M Missense 1/48 - 1
8-133879283-C-G c.38C>G p.S13C Missense 1/48 - 43
8-133879283-C-T c.38C>T p.S13F Missense 1/48 - 12
8-133879284-C-T c.39C>T p.S13= Synonymous 1/48 - 2
8-133879284-C-G c.39C>G p.S13= Synonymous 1/48 - 2
8-133879284-C-A c.39C>A p.S13= Synonymous 1/48 - 2
8-133879282-TC-T c.39del p.I14Sfs*30 Frameshift 1/48 - 1
8-133879282-T-TC c.39dup p.I14Hfs*22 Frameshift 1/48 - 1
8-133879285-ATC-TAA c.40_42delinsTAA p.I14* Nonsense 1/48 - 1
8-133879285-AT-GC c.40_41delinsGC p.I14A Missense 1/48 - 1
8-133879286-T-G c.41T>G p.I14S Missense 1/48 - 1
8-133879288-TG-GC c.43_44delinsGC p.C15A Missense 1/48 - 5
8-133879288-TGC-GAG c.43_45delinsGAG p.C15E Missense 1/48 - 2
8-133879288-T-A c.43T>A p.C15S Missense 1/48 - 5
8-133879289-G-C c.44G>C p.C15S Missense 1/48 - 5
8-133879288-T-G c.43T>G p.C15G Missense 1/48 - 1
8-133879288-TG-AT c.43_44delinsAT p.C15I Missense 1/48 - 3
8-133879288-TG-AC c.43_44delinsAC p.C15T Missense 1/48 - 1
8-133879288-CT-C c.43del p.C15Afs*29 Frameshift 1/48 - 1
8-133879288-TG-CA c.43_44inv p.C15H Missense 1/48 - 1
8-133879288-T-TG c.44dup p.C15Wfs*21 Frameshift 1/48 - 1
8-133879289-G-T c.44G>T p.C15F Missense 1/48 - 1
8-133879289-G-GT c.44_45insT p.W16Lfs*20 Frameshift 1/48 - 1
8-133879289-G-GC c.45dup p.W16Lfs*20 Frameshift 1/48 - 1
8-133879290-GC-G c.45del p.W16Gfs*28 Frameshift 1/48 - 1
8-133879290-C-G c.45C>G p.C15W Missense 1/48 - 1
8-133879290-C-T c.45C>T p.C15= Synonymous 1/48 - 1
8-133879291-T-G c.46T>G p.W16G Missense 1/48 - 1
8-133879291-TG-GC c.46_47delinsGC p.W16A Missense 1/48 - 1
8-133879292-G-C c.47G>C p.W16S Missense 1/48 - 2
8-133879293-G-A c.48G>A p.W16* Nonsense 1/48 - 1
8-133879291-TG-T c.49del p.V17Cfs*27 Frameshift 1/48 - 1
8-133879294-GTG-ATC c.49_51delinsATC p.V17I Missense 1/48 - 19
8-133879294-G-C c.49G>C p.V17L Missense 1/48 - 1
8-133879294-G-T c.49G>T p.V17L Missense 1/48 - 1
8-133879295-T-G c.50T>G p.V17G Missense 1/48 - 1
8-133879294-G-GT c.50dup p.S18Vfs*18 Frameshift 1/48 - 1
8-133879297-TCG-GAC c.52_54delinsGAC p.S18D Missense 1/48 - 12
8-133879297-T-G c.52T>G p.S18A Missense 1/48 - 37
8-133879297-TCG-ATC c.52_54delinsATC p.S18I Missense 1/48 - 1
8-133879297-TC-GA c.52_53inv p.S18E Missense 1/48 - 3
8-133879297-TC-GG c.52_53delinsGG p.S18G Missense 1/48 - 1
8-133879297-TCG-CAT c.52_54delinsCAT p.S18H Missense 1/48 - 1
8-133879297-T-TATTCTTCA c.52_53insATTCTTCA p.S18Yfs*29 Frameshift 1/48 - 1
8-133879298-TC-T c.53del p.S18Wfs*26 Frameshift 1/48 - 1
8-133879297-T-TC c.53dup p.A19Gfs*17 Frameshift 1/48 - 1
8-133879298-CG-GT c.53_54delinsGT p.S18C Missense 1/48 - 14
8-133879298-CG-AT c.53_54delinsAT p.S18Y Missense 1/48 - 1
8-133879298-CG-TT c.53_54delinsTT p.S18F Missense 1/48 - 4
8-133879298-C-T c.53C>T p.S18L Missense 1/48 - 1
8-133879297-TCGGC-T c.54_57del p.A19Ifs*24 Frameshift 1/48 - 1
8-133879300-GC-CT c.55_56delinsCT p.A19L Missense 1/48 - 2
8-133879300-GC-CA c.55_56delinsCA p.A19H Missense 1/48 - 1
8-133879300-G-T c.55G>T p.A19S Missense 1/48 - 2
8-133879300-G-A c.55G>A p.A19T Missense 1/48 - 1
8-133879301-C-G c.56C>G p.A19G Missense 1/48 - 11
8-133879302-C-A c.57C>A p.A19= Synonymous 1/48 - 4
8-133879302-C-G c.57C>G p.A19= Synonymous 1/48 - 4
8-133879302-C-T c.57C>T p.A19= Synonymous 1/48 - 4
8-133879303-AA-GC c.58_59delinsGC p.N20A Missense 1/48 - 1
8-133879303-A-G c.58A>G p.N20D Missense 1/48 - 1
8-133879303-AAT-CAA c.58_60delinsCAA p.N20Q Missense 1/48 - 1
8-133879303-A-ATGTACT c.58_59insTGTACT p.N20delinsMYY MultiAAMissense 1/48 - 1
8-133879305-T-C c.60T>C p.N20= Synonymous 1/48 - 2
8-133879308-TCTTCGGTAAGTTCTGAGGCCATGGAGCCAGGCGGTGGGGAGGGAGCTCCAGTGTCAGCC-T c.63_67+54del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/48 1/47 1
8-133879309-TTC-GAG c.64_66delinsGAG p.F22E Missense 1/48 - 4
8-133879309-TT-GC c.64_65delinsGC p.F22A Missense 1/48 - 1
8-133879309-TT-GA c.64_65delinsGA p.F22D Missense 1/48 - 2
8-133879310-TC-AA c.65_66delinsAA p.F22* Nonsense 1/48 - 1
8-133879311-C-CA c.66_67insA p.E23Rfs*13 SpliceDonorInsertion 1/48 - 1
8-133879310-T-TC c.66dup p.E23Rfs*13 SpliceDonorInsertion 1/48 - 1
8-133879311-C-CT c.66_67insT p.E23* SpliceDonorInsertion 1/48 - 1
8-133879312-G-A c.67G>A p.E23K Missense 1/48 - 22
8-133879313-G-A c.67+1G>A - IntronicSNV - 1/47 1
8-133880212-G-A c.68-148G>A - IntronicSNV - 1/47 1
8-133880357-TAG-T c.68_69del p.E23Vfs*12 SpliceAcceptorDeletion 2/48 - 2
8-133880360-GA-G c.68del p.E23Gfs*21 Frameshift 2/48 - 1
8-133880360-A-C c.68A>C p.E23A Missense 2/48 - 1
8-133880360-A-AG c.69dup p.Y24Vfs*12 SpliceAcceptorInsertion 2/48 - 1
8-133880361-AG-A c.69del p.E23Dfs*21 Frameshift 2/48 - 1
8-133880362-T-C c.70T>C p.Y24H Missense 2/48 - 1
8-133880362-TA-GC c.70_71delinsGC p.Y24A Missense 2/48 - 2
8-133880362-TA-GG c.70_71delinsGG p.Y24G Missense 2/48 - 1
8-133880364-C-T c.72C>T p.Y24= Synonymous 2/48 - 1
8-133880365-CA-GC c.73_74delinsGC p.Q25A Missense 2/48 - 2
8-133880363-A-AC c.73dup p.Q25Pfs*11 Frameshift 2/48 - 1
8-133880365-C-T c.73C>T p.Q25* Nonsense 2/48 - 1
8-133880366-A-ATG c.74_75insTG p.Q25Hfs*20 Frameshift 2/48 - 1
8-133880367-G-A c.75G>A p.Q25= Synonymous 2/48 - 2
8-133880367-G-C c.75G>C p.Q25H Missense 2/48 - 2
8-133880367-G-T c.75G>T p.Q25H Missense 2/48 - 1
8-133880366-AG-A c.76del p.V26Wfs*18 Frameshift 2/48 - 1
8-133880366-A-AG c.76dup p.V26Gfs*10 Frameshift 2/48 - 1
8-133880368-GTG-ATC c.76_78delinsATC p.V26I Missense 2/48 - 2
8-133880368-G-A c.76G>A p.V26M Missense 2/48 - 1
8-133880369-T-C c.77T>C p.V26A Missense 2/48 - 1
8-133880370-G-GT c.78_79insT p.D27* Nonsense 2/48 - 1
8-133880371-G-T c.79G>T p.D27Y Missense 2/48 - 1
8-133880369-T-TG c.79dup p.D27Gfs*9 Frameshift 2/48 - 1
8-133880371-GAT-AAG c.79_81delinsAAG p.D27K Missense 2/48 - 1
8-133880371-G-A c.79G>A p.D27N Missense 2/48 - 1
8-133880372-A-G c.80A>G p.D27G Missense 2/48 - 1
8-133880373-T-G c.81T>G p.D27E Missense 2/48 - 2
8-133880373-T-A c.81T>A p.D27E Missense 2/48 - 3
8-133880373-T-C c.81T>C p.D27= Synonymous 2/48 - 1
8-133880374-GC-TT c.82_83delinsTT p.A28F Missense 2/48 - 3
8-133880374-GC-CA c.82_83delinsCA p.A28H Missense 2/48 - 1
8-133880374-GCC-AAG c.82_84delinsAAG p.A28K Missense 2/48 - 1
8-133880374-GCC-ATG c.82_84delinsATG p.A28M Missense 2/48 - 1
8-133880374-GC-TG c.82_83delinsTG p.A28C Missense 2/48 - 2
8-133880374-GC-CT c.82_83delinsCT p.A28L Missense 2/48 - 2
8-133880374-G-A c.82G>A p.A28T Missense 2/48 - 1
8-133880374-G-C c.82G>C p.A28P Missense 2/48 - 1
8-133880374-G-T c.82G>T p.A28S Missense 2/48 - 1
8-133880375-CC-AG c.83_84delinsAG p.A28E Missense 2/48 - 2
8-133880375-C-G c.83C>G p.A28G Missense 2/48 - 1
8-133880375-C-T c.83C>T p.A28V Missense 2/48 - 1
8-133880375-C-A c.83C>A p.A28D Missense 2/48 - 1
8-133880376-C-A c.84C>A p.A28= Synonymous 2/48 - 2
8-133880376-C-G c.84C>G p.A28= Synonymous 2/48 - 2
8-133880376-C-T c.84C>T p.A28= Synonymous 2/48 - 2
8-133880374-G-GC c.85dup p.Q29Pfs*7 Frameshift 2/48 - 2
8-133880374-GC-G c.85del p.Q29Sfs*15 Frameshift 2/48 - 2
8-133880377-C-A c.85C>A p.Q29K Missense 2/48 - 1
8-133880377-CAG-ATC c.85_87delinsATC p.Q29I Missense 2/48 - 1
8-133880377-CA-GC c.85_86delinsGC p.Q29A Missense 2/48 - 1
8-133880377-C-CA c.86dup p.P30Afs*6 Frameshift 2/48 - 1
8-133880378-A-T c.86A>T p.Q29L Missense 2/48 - 1
8-133880378-A-G c.86A>G p.Q29R Missense 2/48 - 1
8-133880378-A-C c.86A>C p.Q29P Missense 2/48 - 1
8-133880379-G-T c.87G>T p.Q29H Missense 2/48 - 1
8-133880379-G-C c.87G>C p.Q29H Missense 2/48 - 1
8-133880380-C-G c.88C>G p.P30A Missense 2/48 - 1
8-133880380-C-T c.88C>T p.P30S Missense 2/48 - 3
8-133880380-CCC-TAA c.88_90delinsTAA p.P30* Nonsense 2/48 - 1
8-133880380-CC-TT c.88_89delinsTT p.P30F Missense 2/48 - 1
8-133880381-C-CG c.89_90insG p.L31Pfs*5 Frameshift 2/48 - 1
8-133880381-CC-A c.89_90delinsA p.P30Hfs*14 Frameshift 2/48 - 1
8-133880381-C-T c.89C>T p.P30L Missense 2/48 - 1
8-133880381-C-A c.89C>A p.P30H Missense 2/48 - 2
8-133880381-C-G c.89C>G p.P30R Missense 2/48 - 1
8-133880382-C-CG c.90_91insG p.L31Afs*5 Frameshift 2/48 - 2
8-133880379-GCC-G c.90_91del p.L31Sfs*4 Frameshift 2/48 - 1
8-133880379-GC-G c.91del p.L31Ffs*13 Frameshift 2/48 - 2
8-133880383-C-T c.91C>T p.L31F Missense 2/48 - 3
8-133880383-C-A c.91C>A p.L31I Missense 2/48 - 1
8-133880383-CT-GC c.91_92delinsGC p.L31A Missense 2/48 - 1
8-133880383-CT-TG c.91_92delinsTG p.L31C Missense 2/48 - 1
8-133880386-C-T c.94C>T p.R32C Missense 2/48 - 1
8-133880386-CGT-AAG c.94_96delinsAAG p.R32K Missense 2/48 - 3
8-133880386-CGT-TGA c.94_96delinsTGA p.R32* Nonsense 2/48 - 2
8-133880386-CGT-TGG c.94_96delinsTGG p.R32W Missense 2/48 - 1
8-133880386-C-G c.94C>G p.R32G Missense 2/48 - 2
8-133880386-CG-GT c.94_95delinsGT p.R32V Missense 2/48 - 1
8-133880387-G-A c.95G>A p.R32H Missense 2/48 - 2
8-133880387-G-C c.95G>C p.R32P Missense 2/48 - 1
8-133880388-T-C c.96T>C p.R32= Synonymous 2/48 - 1
8-133880389-CC-TT c.97_98delinsTT p.P33F Missense 2/48 - 1
8-133880389-C-T c.97C>T p.P33S Missense 2/48 - 1
8-133880390-C-T c.98C>T p.P33L Missense 2/48 - 2
8-133880392-TG-GC c.100_101delinsGC p.C34A Missense 2/48 - 1
8-133880392-T-G c.100T>G p.C34G Missense 2/48 - 3
8-133880392-TG-AC c.100_101delinsAC p.C34T Missense 2/48 - 6
8-133880392-TGT-GAG c.100_102delinsGAG p.C34E Missense 2/48 - 1
8-133880392-T-A c.100T>A p.C34S Missense 2/48 - 1
8-133880393-G-C c.101G>C p.C34S Missense 2/48 - 1
8-133880393-G-GC c.101_102insC p.E35* Nonsense 2/48 - 1
8-133880394-T-C c.102T>C p.C34= Synonymous 2/48 - 1
8-133880394-T-A c.102T>A p.C34* Nonsense 2/48 - 2
8-133880395-GA-TC c.103_104inv p.E35S Missense 2/48 - 1
8-133880394-T-TG c.103dup p.E35Gfs*45 Frameshift 2/48 - 1
8-133880395-G-A c.103G>A p.E35K Missense 2/48 - 2
8-133880395-GA-AT c.103_104delinsAT p.E35M Missense 2/48 - 1
8-133880395-GAG-TTT c.103_105delinsTTT p.E35F Missense 2/48 - 1
8-133880395-G-T c.103G>T p.E35* Nonsense 2/48 - 1
8-133880396-A-C c.104A>C p.E35A Missense 2/48 - 2
8-133880396-A-G c.104A>G p.E35G Missense 2/48 - 3
8-133880396-A-T c.104A>T p.E35V Missense 2/48 - 1
8-133880397-G-C c.105G>C p.E35D Missense 2/48 - 2
8-133880397-G-T c.105G>T p.E35D Missense 2/48 - 2
8-133880397-G-A c.105G>A p.E35= Synonymous 2/48 - 1
8-133880398-CT-GC c.106_107delinsGC p.L36A Missense 2/48 - 3
8-133880398-CTG-GAC c.106_108delinsGAC p.L36D Missense 2/48 - 1
8-133880398-CT-TG c.106_107delinsTG p.L36W Missense 2/48 - 1
8-133880399-T-C c.107T>C p.L36P Missense 2/48 - 1
8-133880401-C-T c.109C>T p.Q37* Nonsense 2/48 - 1
8-133880401-C-G c.109C>G p.Q37E Missense 2/48 - 1
8-133880403-G-GT c.111_112insT p.R38* Nonsense 2/48 - 1
8-133880403-G-C c.111G>C p.Q37H Missense 2/48 - 1
8-133880403-G-T c.111G>T p.Q37H Missense 2/48 - 1
8-133880404-A-T c.112A>T p.R38W Missense 2/48 - 1
8-133880404-A-G c.112A>G p.R38G Missense 2/48 - 2
8-133880404-AG-GC c.112_113delinsGC p.R38A Missense 2/48 - 1
8-133880405-G-T c.113G>T p.R38M Missense 2/48 - 1
8-133880406-G-GT c.114_115insT p.E39* Nonsense 2/48 - 1
8-133880406-G-C c.114G>C p.R38S Missense 2/48 - 1
8-133880406-G-T c.114G>T p.R38S Missense 2/48 - 1
8-133880407-GA-AG c.115_116delinsAG p.E39R Missense 2/48 - 1
8-133880404-A-AG c.115dup p.E39Gfs*41 Frameshift 2/48 - 1
8-133880408-A-C c.116A>C p.E39A Missense 2/48 - 2
8-133880409-A-C c.117A>C p.E39D Missense 2/48 - 1
8-133880409-A-T c.117A>T p.E39D Missense 2/48 - 1
8-133880410-ACG-TGT c.118_120delinsTGT p.T40C Missense 2/48 - 1
8-133880411-CG-TC c.119_120delinsTC p.T40I Missense 2/48 - 5
8-133880413-GC-TT c.121_122delinsTT p.A41F Missense 2/48 - 4
8-133880411-CG-C c.121del p.A41Pfs*3 Frameshift 2/48 - 1
8-133880411-C-CG c.121dup p.A41Gfs*39 Frameshift 2/48 - 1
8-133880413-GC-TG c.121_122delinsTG p.A41C Missense 2/48 - 3
8-133880414-C-G c.122C>G p.A41G Missense 2/48 - 1
8-133880414-CC-AG c.122_123delinsAG p.A41E Missense 2/48 - 1
8-133880414-C-A c.122C>A p.A41D Missense 2/48 - 1
8-133880414-C-CACCGT c.122_123insACCGT p.F42Pfs*4 Frameshift 2/48 - 1
8-133880414-C-T c.122C>T p.A41V Missense 2/48 - 1
8-133880415-C-A c.123C>A p.A41= Synonymous 2/48 - 3
8-133880415-C-G c.123C>G p.A41= Synonymous 2/48 - 3
8-133880415-C-T c.123C>T p.A41= Synonymous 2/48 - 3
8-133880413-G-GC c.123dup p.F42Lfs*38 Frameshift 2/48 - 1
8-133880416-TT-GC c.124_125delinsGC p.F42A Missense 2/48 - 2
8-133880416-TT-CG c.124_125delinsCG p.F42R Missense 2/48 - 1
8-133880416-T-C c.124T>C p.F42L Missense 2/48 - 1
8-133880418-T-A c.126T>A p.F42L Missense 2/48 - 1
8-133880418-T-G c.126T>G p.F42L Missense 2/48 - 1
8-133880418-T-C c.126T>C p.F42= Synonymous 2/48 - 1
8-133880419-C-T c.127C>T p.L43= Synonymous 2/48 - 2
8-133880419-CT-GC c.127_128delinsGC p.L43A Missense 2/48 - 1
8-133880419-C-G c.127C>G p.L43V Missense 2/48 - 1
8-133880419-CTG-TTT c.127_129delinsTTT p.L43F Missense 2/48 - 1
8-133880420-T-C c.128T>C p.L43P Missense 2/48 - 1
8-133880422-AA-GC c.130_131delinsGC p.K44A Missense 2/48 - 64
8-133880422-A-G c.130A>G p.K44E Missense 2/48 - 1
8-133880423-A-T c.131A>T p.K44M Missense 2/48 - 2
8-133880423-A-G c.131A>G p.K44R Missense 2/48 - 1
8-133880424-G-GC c.133dup p.Q45Pfs*35 Frameshift 2/48 - 1
8-133880426-A-G c.134A>G p.Q45R Missense 2/48 - 1
8-133880427-A-T c.135A>T p.Q45H Missense 2/48 - 1
8-133880427-A-C c.135A>C p.Q45H Missense 2/48 - 1
8-133880425-CAAGCAG-C c.135_140del p.Q45_D47delinsH MultiAAMissense 2/48 - 1
8-133880428-GCA-TGT c.136_138delinsTGT p.A46C Missense 2/48 - 3
8-133880428-GCA-TTT c.136_138delinsTTT p.A46F Missense 2/48 - 1
8-133880428-GC-AG c.136_137delinsAG p.A46R Missense 2/48 - 2
8-133880428-G-T c.136G>T p.A46S Missense 2/48 - 1
8-133880428-G-GC c.137dup p.D47Rfs*33 Frameshift 2/48 - 1
8-133880429-C-A c.137C>A p.A46E Missense 2/48 - 1
8-133880429-C-T c.137C>T p.A46V Missense 2/48 - 2
8-133880429-C-G c.137C>G p.A46G Missense 2/48 - 1
8-133880429-C-CTG c.137_138insTG p.D47Efs*60 Frameshift 2/48 - 1
8-133880430-A-C c.138A>C p.A46= Synonymous 2/48 - 3
8-133880430-A-G c.138A>G p.A46= Synonymous 2/48 - 3
8-133880430-A-T c.138A>T p.A46= Synonymous 2/48 - 3
8-133880430-A-AG c.139dup p.D47Gfs*33 Frameshift 2/48 - 1
8-133880431-G-A c.139G>A p.D47N Missense 2/48 - 1
8-133880432-A-AC c.141dup p.Y48Lfs*32 Frameshift 2/48 - 1
8-133880433-C-G c.141C>G p.D47E Missense 2/48 - 1
8-133880433-C-A c.141C>A p.D47E Missense 2/48 - 1
8-133880434-T-TG c.142_143insG p.Y48* Nonsense 2/48 - 1
8-133880434-TA-GG c.142_143delinsGG p.Y48G Missense 2/48 - 1
8-133880434-T-G c.142T>G p.Y48D Missense 2/48 - 1
8-133880435-A-T c.143A>T p.Y48F Missense 2/48 - 1
8-133880435-A-AC c.144dup p.V49Rfs*31 Frameshift 2/48 - 1
8-133880435-A-ACTGTAGCTCTGGGGGCTG c.144_145insTGTAGCTCTGGGGGCTGC p.Y48_V49insCSSGGC InFrameInsertion 2/48 - 1
8-133880436-C-CG c.145dup p.V49Gfs*31 Frameshift 2/48 - 1
8-133880437-G-A c.145G>A p.V49M Missense 2/48 - 1
8-133880437-G-T c.145G>T p.V49L Missense 2/48 - 2
8-133880437-GTG-TGT c.145_147delinsTGT p.V49C Missense 2/48 - 2
8-133880437-G-C c.145G>C p.V49L Missense 2/48 - 1
8-133880438-T-G c.146T>G p.V49G Missense 2/48 - 4
8-133880438-T-C c.146T>C p.V49A Missense 2/48 - 2
8-133880438-T-A c.146T>A p.V49E Missense 2/48 - 1
8-133880440-C-T c.148C>T p.P50S Missense 2/48 - 2
8-133880440-CCC-GAG c.148_150delinsGAG p.P50E Missense 2/48 - 1
8-133880440-CC-GG c.148_149inv p.P50G Missense 2/48 - 1
8-133880440-C-G c.148C>G p.P50A Missense 2/48 - 1
8-133880442-C-T c.150C>T p.P50= Synonymous 2/48 - 2
8-133880442-C-G c.150C>G p.P50= Synonymous 2/48 - 2
8-133880442-C-A c.150C>A p.P50= Synonymous 2/48 - 2
8-133880439-G-GC c.151dup p.Q51Pfs*29 Frameshift 2/48 - 1
8-133880443-C-G c.151C>G p.Q51E Missense 2/48 - 1
8-133880444-A-G c.152A>G p.Q51R Missense 2/48 - 1
8-133880445-G-T c.153G>T p.Q51H Missense 2/48 - 1
8-133880445-G-C c.153G>C p.Q51H Missense 2/48 - 1
8-133880446-TG-GC c.154_155delinsGC p.C52A Missense 2/48 - 1
8-133880446-T-C c.154T>C p.C52R Missense 2/48 - 1
8-133880446-TG-AC c.154_155delinsAC p.C52T Missense 2/48 - 1
8-133880447-TG-T c.155del p.C52Lfs*54 Frameshift 2/48 - 1
8-133880446-T-TG c.155dup p.C52Wfs*28 Frameshift 2/48 - 1
8-133880447-G-T c.155G>T p.C52F Missense 2/48 - 1
8-133880449-G-A c.157G>A p.A53T Missense 2/48 - 71
8-133880448-T-TG c.157dup p.A53Gfs*27 Frameshift 2/48 - 2
8-133880449-TG-T c.157del p.A53Qfs*53 Frameshift 2/48 - 2
8-133880449-GCA-TTT c.157_159delinsTTT p.A53F Missense 2/48 - 1
8-133880449-GCA-TGT c.157_159delinsTGT p.A53C Missense 2/48 - 2
8-133880449-G-T c.157G>T p.A53S Missense 2/48 - 1
8-133880449-G-GC c.158dup p.E54Rfs*26 Frameshift 2/48 - 1
8-133880450-C-T c.158C>T p.A53V Missense 2/48 - 4
8-133880452-G-A c.160G>A p.E54K Missense 2/48 - 10
8-133880452-G-C c.160G>C p.E54Q Missense 2/48 - 1
8-133880453-A-G c.161A>G p.E54G Missense 2/48 - 1
8-133880453-A-C c.161A>C p.E54A Missense 2/48 - 1
8-133880453-A-AG c.163dup p.D55Gfs*25 Frameshift 2/48 - 1
8-133880453-AG-A c.163del p.D55Mfs*51 Frameshift 2/48 - 1
8-133880455-GA-TT c.163_164delinsTT p.D55F Missense 2/48 - 1
8-133880456-A-G c.164A>G p.D55G Missense 2/48 - 1
8-133880456-A-C c.164A>C p.D55A Missense 2/48 - 1
8-133880457-T-C c.165T>C p.D55= Synonymous 2/48 - 2
8-133880457-T-G c.165T>G p.D55E Missense 2/48 - 1
8-133880458-G-A c.166G>A p.G56S Missense 2/48 - 2
8-133880458-G-C c.166G>C p.G56R Missense 2/48 - 2
8-133880459-G-A c.167G>A p.G56D Missense 2/48 - 1
8-133880459-G-T c.167G>T p.G56V Missense 2/48 - 1
8-133880459-G-GC c.168dup p.S57Qfs*23 Frameshift 2/48 - 1
8-133880461-AG-CT c.169_170inv p.S57L Missense 2/48 - 1
8-133880461-AG-GC c.169_170delinsGC p.S57A Missense 2/48 - 3
8-133880461-AGC-GAG c.169_171delinsGAG p.S57E Missense 2/48 - 1
8-133880461-A-G c.169A>G p.S57G Missense 2/48 - 1
8-133880462-G-GC c.171dup p.F58Lfs*22 Frameshift 2/48 - 1
8-133880463-C-T c.171C>T p.S57= Synonymous 2/48 - 1
8-133880462-GCTTC-G c.172_175del p.F58Rfs*47 SpliceDonorDeletion 2/48 - 1
8-133880464-TT-AA c.172_173inv p.F58N Missense 2/48 - 1
8-133880465-T-G c.173T>G p.F58C Missense 2/48 - 1
8-133880465-T-C c.173T>C p.F58S Missense 2/48 - 1
8-133880466-C-T c.174C>T p.F58= Synonymous 2/48 - 1
8-133880465-T-TC c.175dup p.Q59Pfs*21 SpliceDonorInsertion 2/48 - 3
8-133880467-C-CG c.175_176insG p.Q59Rfs*21 SpliceDonorInsertion 2/48 - 1
8-133880467-C-T c.175C>T p.Q59* Nonsense 2/48 - 1
8-133880467-CA-GC c.175_176delinsGC p.Q59A Missense 2/48 - 1
8-133880468-A-G c.176A>G p.Q59R Missense 2/48 - 1
8-133881244-C-T c.177-730C>T - IntronicSNV - 2/47 1
8-133881975-A-G c.178A>G p.T60A Missense 3/48 - 4
8-133881975-A-AC c.179dup p.V61Cfs*19 Frameshift 3/48 - 1
8-133881976-CT-TG c.179_180delinsTG p.T60M Missense 3/48 - 1
8-133881976-C-T c.179C>T p.T60I Missense 3/48 - 1
8-133881977-T-C c.180T>C p.T60= Synonymous 3/48 - 1
8-133881978-GTC-TGG c.181_183delinsTGG p.V61W Missense 3/48 - 1
8-133881978-GT-AA c.181_182delinsAA p.V61N Missense 3/48 - 3
8-133881979-T-G c.182T>G p.V61G Missense 3/48 - 1
8-133881979-T-TC c.184dup p.Q62Pfs*18 Frameshift 3/48 - 1
8-133881981-CA-GC c.184_185delinsGC p.Q62A Missense 3/48 - 1
8-133881982-A-G c.185A>G p.Q62R Missense 3/48 - 2
8-133881984-TG-GA c.187_188delinsGA p.C63D Missense 3/48 - 1
8-133881985-G-A c.188G>A p.C63Y Missense 3/48 - 1
8-133881985-TG-T c.188del p.C63Sfs*43 Frameshift 3/48 - 1
8-133881985-GC-G c.190del p.Q64Rfs*42 Frameshift 3/48 - 1
8-133881985-G-GC c.190dup p.Q64Pfs*16 Frameshift 3/48 - 1
8-133881988-A-G c.191A>G p.Q64R Missense 3/48 - 2
8-133881988-A-T c.191A>T p.Q64L Missense 3/48 - 10
8-133881987-C-CA c.191dup p.N65Efs*15 Frameshift 3/48 - 1
8-133881989-G-T c.192G>T p.Q64H Missense 3/48 - 1
8-133881989-G-C c.192G>C p.Q64H Missense 3/48 - 1
8-133881990-A-G c.193A>G p.N65D Missense 3/48 - 1
8-133881992-C-T c.195C>T p.N65= Synonymous 3/48 - 1
8-133881992-C-CG c.196dup p.D66Gfs*14 Frameshift 3/48 - 1
8-133881993-GA-TT c.196_197delinsTT p.D66F Missense 3/48 - 1
8-133881993-GA-TG c.196_197delinsTG p.D66C Missense 3/48 - 1
8-133881993-G-C c.196G>C p.D66H Missense 3/48 - 1
8-133881995-C-T c.198C>T p.D66= Synonymous 3/48 - 1
8-133881996-G-A c.199G>A p.G67S Missense 3/48 - 3
8-133881995-C-CG c.200dup p.R68Pfs*12 Frameshift 3/48 - 1
8-133881997-GC-AG c.200_201delinsAG p.G67E Missense 3/48 - 1
8-133881997-G-A c.200G>A p.G67D Missense 3/48 - 1
8-133881997-GGC-G c.200_201del p.G67Afs*12 Frameshift 3/48 - 1
8-133881997-G-C c.200G>C p.G67A Missense 3/48 - 1
8-133881997-G-T c.200G>T p.G67V Missense 3/48 - 1
8-133881998-C-T c.201C>T p.G67= Synonymous 3/48 - 1
8-133881997-G-GC c.202dup p.R68Pfs*12 Frameshift 3/48 - 1
8-133881997-GC-G c.202del p.R68Afs*38 Frameshift 3/48 - 2
8-133881999-CGC-AAG c.202_204delinsAAG p.R68K Missense 3/48 - 1
8-133882000-CG-C c.203del p.R68Pfs*38 Frameshift 3/48 - 1
8-133882001-C-A c.204C>A p.R68= Synonymous 3/48 - 1
8-133882002-T-G c.205T>G p.S69A Missense 3/48 - 1
8-133882003-C-G c.206C>G p.S69C Missense 3/48 - 1
8-133882002-T-TC c.207dup p.C70Lfs*10 Frameshift 3/48 - 1
8-133882005-T-G c.208T>G p.C70G Missense 3/48 - 1
8-133882005-TG-GC c.208_209delinsGC p.C70A Missense 3/48 - 2
8-133882005-T-C c.208T>C p.C70R Missense 3/48 - 1
8-133882005-TG-AC c.208_209delinsAC p.C70T Missense 3/48 - 1
8-133882006-G-A c.209G>A p.C70Y Missense 3/48 - 1
8-133882007-C-T c.210C>T p.C70= Synonymous 3/48 - 2
8-133882009-G-T c.212G>T p.W71L Missense 3/48 - 1
8-133882008-T-TG c.213dup p.C72Vfs*8 Frameshift 3/48 - 1
8-133882008-TG-T c.213del p.W71Cfs*35 Frameshift 3/48 - 1
8-133882011-TG-GC c.214_215delinsGC p.C72A Missense 3/48 - 2
8-133882011-T-G c.214T>G p.C72G Missense 3/48 - 1
8-133882011-TGT-GAG c.214_216delinsGAG p.C72E Missense 3/48 - 3
8-133882013-T-C c.216T>C p.C72= Synonymous 3/48 - 1
8-133882013-T-TG c.217dup p.V73Gfs*7 Frameshift 3/48 - 1
8-133882014-GTG-ATC c.217_219delinsATC p.V73I Missense 3/48 - 1
8-133882014-G-A c.217G>A p.V73M Missense 3/48 - 2
8-133882014-GT-TC c.217_218delinsTC p.V73S Missense 3/48 - 1
8-133882015-T-C c.218T>C p.V73A Missense 3/48 - 1
8-133882016-G-A c.219G>A p.V73= Synonymous 3/48 - 1
8-133882013-TGTGGGTGCCAACGGCAGTGAA-T c.220_240del p.G74_V80del InFrameDeletion 3/48 - 1
8-133882019-T-TG c.223dup p.A75Gfs*5 Frameshift 3/48 - 1
8-133882020-G-T c.223G>T p.A75S Missense 3/48 - 1
8-133882020-GC-TT c.223_224delinsTT p.A75F Missense 3/48 - 3
8-133882020-GC-TG c.223_224delinsTG p.A75C Missense 3/48 - 2
8-133882021-CC-AG c.224_225delinsAG p.A75E Missense 3/48 - 2
8-133882021-C-A c.224C>A p.A75D Missense 3/48 - 3
8-133882022-C-A c.225C>A p.A75= Synonymous 3/48 - 4
8-133882022-C-G c.225C>G p.A75= Synonymous 3/48 - 4
8-133882022-C-T c.225C>T p.A75= Synonymous 3/48 - 4
8-133882020-G-GC c.225dup p.N76Qfs*4 Frameshift 3/48 - 1
8-133882023-A-G c.226A>G p.N76D Missense 3/48 - 2
8-133882023-AA-CC c.226_227delinsCC p.N76P Missense 3/48 - 1
8-133882024-A-G c.227A>G p.N76S Missense 3/48 - 1
8-133882024-A-T c.227A>T p.N76I Missense 3/48 - 1
8-133882022-CAACGGCAGTG-C c.228_237del p.N76Kfs*27 Frameshift 3/48 - 1
8-133882025-C-T c.228C>T p.N76= Synonymous 3/48 - 1
8-133882026-G-A c.229G>A p.G77S Missense 3/48 - 6
8-133882026-GG-CC c.229_230inv p.G77P Missense 3/48 - 1
8-133882026-CGG-C c.229_230del p.G77Qfs*2 Frameshift 3/48 - 1
8-133882025-C-CG c.230dup p.S78Qfs*2 Frameshift 3/48 - 1
8-133882027-GC-AG c.230_231delinsAG p.G77E Missense 3/48 - 1
8-133882027-G-A c.230G>A p.G77D Missense 3/48 - 1
8-133882027-G-C c.230G>C p.G77A Missense 3/48 - 1
8-133882028-GC-G c.231del p.S78Vfs*28 Frameshift 3/48 - 1
8-133882027-G-GC c.231dup p.S78Qfs*2 Frameshift 3/48 - 1
8-133882029-AG-GC c.232_233delinsGC p.S78A Missense 3/48 - 2
8-133882029-AGT-TGA c.232_234delinsTGA p.S78* Nonsense 3/48 - 1
8-133882029-AG-GA c.232_233delinsGA p.S78D Missense 3/48 - 1
8-133882029-AG-CT c.232_233inv p.S78L Missense 3/48 - 1
8-133882029-A-AG c.233dup p.S78Rfs*2 Frameshift 3/48 - 1
8-133882030-G-C c.233G>C p.S78T Missense 3/48 - 1
8-133882032-GA-TC c.235_236inv p.E79S Missense 3/48 - 1
8-133882032-TG-T c.235del p.E79Kfs*27 Frameshift 3/48 - 1
8-133882032-GAA-TGT c.235_237delinsTGT p.E79C Missense 3/48 - 1
8-133882032-G-A c.235G>A p.E79K Missense 3/48 - 1
8-133882032-G-C c.235G>C p.E79Q Missense 3/48 - 1
8-133882034-A-G c.237A>G p.E79= Synonymous 3/48 - 1
8-133882036-T-G c.239T>G p.V80G Missense 3/48 - 1
8-133882036-T-TG c.240dup p.L81Afs*30 Frameshift 3/48 - 1
8-133882037-G-GC c.241dup p.L81Pfs*30 Frameshift 3/48 - 2
8-133882038-C-T c.241C>T p.L81= Synonymous 3/48 - 4
8-133882038-CTG-TTT c.241_243delinsTTT p.L81F Missense 3/48 - 1
8-133882038-C-G c.241C>G p.L81V Missense 3/48 - 2
8-133882038-CT-GC c.241_242delinsGC p.L81A Missense 3/48 - 1
8-133882038-CT-AC c.241_242delinsAC p.L81T Missense 3/48 - 1
8-133882040-G-A c.243G>A p.L81= Synonymous 3/48 - 3
8-133882040-G-T c.243G>T p.L81= Synonymous 3/48 - 2
8-133882040-G-C c.243G>C p.L81= Synonymous 3/48 - 2
8-133882041-G-C c.244G>C p.G82R Missense 3/48 - 1
8-133882041-G-A c.244G>A p.G82S Missense 3/48 - 7
8-133882042-G-A c.245G>A p.G82D Missense 3/48 - 1
8-133882039-TG-T c.245del p.G82Afs*24 Frameshift 3/48 - 1
8-133882042-G-GC c.246dup p.S83Qfs*28 Frameshift 3/48 - 1
8-133882044-AG-CT c.247_248inv p.S83L Missense 3/48 - 2
8-133882044-AG-TA c.247_248delinsTA p.S83Y Missense 3/48 - 1
8-133882044-CA-C c.247del p.S83Afs*23 Frameshift 3/48 - 1
8-133882044-A-AG c.248dup p.S83Rfs*28 Frameshift 3/48 - 1
8-133882045-G-T c.248G>T p.S83I Missense 3/48 - 2
8-133882045-G-A c.248G>A p.S83N Missense 3/48 - 1
8-133882046-C-G c.249C>G p.S83R Missense 3/48 - 1
8-133882046-C-A c.249C>A p.S83R Missense 3/48 - 1
8-133882044-A-C c.247A>C p.S83R Missense 3/48 - 1
8-133882047-AG-GC c.250_251delinsGC p.R84A Missense 3/48 - 3
8-133882047-AG-CA c.250_251delinsCA p.R84Q Missense 3/48 - 1
8-133882047-A-AG c.252dup p.Q85Afs*26 Frameshift 3/48 - 1
8-133882049-G-C c.252G>C p.R84S Missense 3/48 - 1
8-133882049-G-A c.252G>A p.R84= Synonymous 3/48 - 1
8-133882047-A-C c.250A>C p.R84= Synonymous 3/48 - 1
8-133882050-GC-G c.253del p.Q85Sfs*21 Frameshift 3/48 - 1
8-133882050-CAG-AAC c.253_255delinsAAC p.Q85N Missense 3/48 - 1
8-133882051-A-T c.254A>T p.Q85L Missense 3/48 - 3
8-133882054-C-T c.257C>T p.P86L Missense 3/48 - 2
8-133882054-C-G c.257C>G p.P86R Missense 3/48 - 1
8-133882056-G-T c.259G>T p.G87* Nonsense 3/48 - 1
8-133882056-G-C c.259G>C p.G87R Missense 3/48 - 1
8-133882055-A-AG c.260dup p.R88Tfs*23 Frameshift 3/48 - 1
8-133882055-AG-A c.260del p.G87Dfs*19 Frameshift 3/48 - 3
8-133882057-G-C c.260G>C p.G87A Missense 3/48 - 1
8-133882059-C-T c.262C>T p.R88W Missense 3/48 - 3
8-133882059-ACGGCCTGTGGC-A c.262_272del p.R88Lfs*19 Frameshift 3/48 - 1
8-133882059-CG-AT c.262_263delinsAT p.R88M Missense 3/48 - 1
8-133882059-C-CG c.264dup p.P89Afs*22 Frameshift 3/48 - 1
8-133882059-CG-C c.264del p.P89Lfs*17 Frameshift 3/48 - 1
8-133882062-C-T c.265C>T p.P89S Missense 3/48 - 2
8-133882061-G-GC c.266dup p.V90Cfs*21 Frameshift 3/48 - 2
8-133882064-T-G c.267T>G p.P89= Synonymous 3/48 - 1
8-133882064-T-A c.267T>A p.P89= Synonymous 3/48 - 1
8-133882064-T-C c.267T>C p.P89= Synonymous 3/48 - 1
8-133882064-T-TG c.268dup p.V90Gfs*21 Frameshift 3/48 - 2
8-133882065-G-C c.268G>C p.V90L Missense 3/48 - 1
8-133882065-G-T c.268G>T p.V90L Missense 3/48 - 1
8-133882065-GTG-ATC c.268_270delinsATC p.V90I Missense 3/48 - 3
8-133882068-GC-TG c.271_272delinsTG p.A91C Missense 3/48 - 5
8-133882068-G-A c.271G>A p.A91T Missense 3/48 - 1
8-133882066-TG-T c.271del p.A91Lfs*15 Frameshift 3/48 - 1
8-133882069-C-A c.272C>A p.A91D Missense 3/48 - 1
8-133882068-G-GC c.272dup p.C92Lfs*19 SpliceDonorInsertion 3/48 - 1
8-133882069-CT-AG c.272_273inv p.A91E Missense 3/48 - 2
8-133882069-C-T c.272C>T p.A91V Missense 3/48 - 1
8-133882070-T-C c.273T>C p.A91= Synonymous 3/48 - 2
8-133882070-T-G c.273T>G p.A91= Synonymous 3/48 - 2
8-133882070-T-A c.273T>A p.A91= Synonymous 3/48 - 2
8-133882073-T-G c.274+2T>G - IntronicSNV - 3/47 3
8-133883593-G-A c.275G>A p.C92Y Missense 4/48 - 1
8-133883593-G-GT c.276dup p.L93Sfs*18 SpliceAcceptorInsertion 4/48 - 1
8-133883594-T-TA c.276_277insA p.L93Tfs*18 SpliceAcceptorInsertion 4/48 - 1
8-133883594-T-TG c.276_277insG p.L93Afs*18 SpliceAcceptorInsertion 4/48 - 1
8-133883594-T-TC c.277dup p.L93Pfs*18 Frameshift 4/48 - 2
8-133883595-TC-T c.277del p.L93Cfs*13 Frameshift 4/48 - 1
8-133883595-C-A c.277C>A p.L93M Missense 4/48 - 1
8-133883596-T-A c.278T>A p.L93Q Missense 4/48 - 1
8-133883597-G-T c.279G>T p.L93= Synonymous 4/48 - 2
8-133883597-G-A c.279G>A p.L93= Synonymous 4/48 - 2
8-133883597-G-C c.279G>C p.L93= Synonymous 4/48 - 2
8-133883595-C-T c.277C>T p.L93= Synonymous 4/48 - 2
8-133883598-T-G c.280T>G p.S94A Missense 4/48 - 3
8-133883598-T-TC c.281dup p.F95Ifs*16 Frameshift 4/48 - 1
8-133883601-TT-CG c.283_284delinsCG p.F95R Missense 4/48 - 1
8-133883601-TT-GC c.283_284delinsGC p.F95A Missense 4/48 - 2
8-133883601-T-C c.283T>C p.F95L Missense 4/48 - 1
8-133883603-T-A c.285T>A p.F95L Missense 4/48 - 1
8-133883603-T-G c.285T>G p.F95L Missense 4/48 - 1
8-133883602-T-A c.284T>A p.F95Y Missense 4/48 - 1
8-133883603-T-C c.285T>C p.F95= Synonymous 4/48 - 1
8-133883604-T-C c.286T>C p.C96R Missense 4/48 - 1
8-133883605-G-A c.287G>A p.C96Y Missense 4/48 - 18
8-133883607-C-T c.289C>T p.Q97* Nonsense 4/48 - 1
8-133883608-A-C c.290A>C p.Q97P Missense 4/48 - 1
8-133883610-C-CG c.292_293insG p.L98Rfs*13 Frameshift 4/48 - 1
8-133883610-C-T c.292C>T p.L98= Synonymous 4/48 - 2
8-133883610-CT-GG c.292_293delinsGG p.L98G Missense 4/48 - 1
8-133883611-T-G c.293T>G p.L98R Missense 4/48 - 7
8-133883612-A-T c.294A>T p.L98= Synonymous 4/48 - 1
8-133883612-A-G c.294A>G p.L98= Synonymous 4/48 - 1
8-133883612-A-C c.294A>C p.L98= Synonymous 4/48 - 1
8-133883612-A-AC c.295dup p.Q99Pfs*12 Frameshift 4/48 - 1
8-133883613-CAG-TTT c.295_297delinsTTT p.Q99F Missense 4/48 - 1
8-133883613-C-T c.295C>T p.Q99* Nonsense 4/48 - 1
8-133883614-A-T c.296A>T p.Q99L Missense 4/48 - 2
8-133883614-A-AG c.297dup p.K100Efs*11 Frameshift 4/48 - 1
8-133883615-AG-A c.297del p.K100Nfs*6 Frameshift 4/48 - 1
8-133883616-AAA-GAC c.298_300delinsGAC p.K100D Missense 4/48 - 1
8-133883616-AAA-TGT c.298_300delinsTGT p.K100C Missense 4/48 - 2
8-133883616-A-T c.298A>T p.K100* Nonsense 4/48 - 2
8-133883616-AA-GC c.298_299delinsGC p.K100A Missense 4/48 - 2
8-133883616-A-G c.298A>G p.K100E Missense 4/48 - 1
8-133883617-AA-TG c.299_300delinsTG p.K100M Missense 4/48 - 3
8-133883619-CAGCAGATCTTACTGAGTGGCT-C c.303_323del p.Q101_Y108delinsH MultiAAMissense 4/48 - 1
8-133883620-A-AG c.303dup p.Q102Afs*9 Frameshift 4/48 - 1
8-133883622-GC-G c.304del p.Q102Rfs*4 Frameshift 4/48 - 1
8-133883621-G-GC c.304dup p.Q102Pfs*9 Frameshift 4/48 - 1
8-133883622-CAG-AAC c.304_306delinsAAC p.Q102N Missense 4/48 - 1
8-133883622-C-T c.304C>T p.Q102* Nonsense 4/48 - 1
8-133883625-AT-GG c.307_308delinsGG p.I103G Missense 4/48 - 1
8-133883626-T-C c.308T>C p.I103T Missense 4/48 - 1
8-133883626-T-G c.308T>G p.I103S Missense 4/48 - 1
8-133883626-T-TC c.309dup p.L105Tfs*6 Frameshift 4/48 - 1
8-133883628-CTTACTGA-C c.310_316del p.L104Vfs*61 Frameshift 4/48 - 1
8-133883631-AC-A c.313del p.L105* Frameshift 4/48 - 1
8-133883631-CTG-GAC c.313_315delinsGAC p.L105D Missense 4/48 - 1
8-133883631-C-T c.313C>T p.L105= Synonymous 4/48 - 1
8-133883632-T-C c.314T>C p.L105P Missense 4/48 - 1
8-133883633-TG-T c.315del p.S106Vfs*61 Frameshift 4/48 - 1
8-133883634-AGT-TGA c.316_318delinsTGA p.S106* Nonsense 4/48 - 1
8-133883634-AG-GC c.316_317delinsGC p.S106A Missense 4/48 - 1
8-133883634-A-T c.316A>T p.S106C Missense 4/48 - 1
8-133883634-GAGTGGCTACATTAACAGCACA-G c.316_336del p.S106_T112del InFrameDeletion 4/48 - 1
8-133883635-AG-A c.317del p.S106Mfs*61 Frameshift 4/48 - 1
8-133883634-A-AG c.317dup p.S106Rfs*5 Frameshift 4/48 - 1
8-133883635-G-T c.317G>T p.S106I Missense 4/48 - 1
8-133883635-G-A c.317G>A p.S106N Missense 4/48 - 1
8-133883637-G-T c.319G>T p.G107C Missense 4/48 - 1
8-133883636-T-TG c.320dup p.Y108Lfs*3 Frameshift 4/48 - 1
8-133883638-G-C c.320G>C p.G107A Missense 4/48 - 1
8-133883636-TG-T c.320del p.G107Afs*60 Frameshift 4/48 - 1
8-133883640-TA-AT c.322_323delinsAT p.Y108I Missense 4/48 - 1
8-133883640-CTACATTAA-C c.322_329del p.Y108Qfs*22 Frameshift 4/48 - 1
8-133883640-TACATTAACAG-CA c.322_332delinsCA p.Y108_S111delinsH MultiAAMissense 4/48 - 1
8-133883641-A-G c.323A>G p.Y108C Missense 4/48 - 2
8-133883641-A-AC c.324dup p.I109Hfs*2 Frameshift 4/48 - 1
8-133883642-ACAT-A c.324_326del p.I109del InFrameDeletion 4/48 - 1
8-133883643-A-G c.325A>G p.I109V Missense 4/48 - 1
8-133883646-AA-TT c.328_329inv p.N110F Missense 4/48 - 1
8-133883647-AC-GG c.329_330delinsGG p.N110R Missense 4/48 - 1
8-133883647-A-AC c.330dup p.S111Qfs*22 Frameshift 4/48 - 1
8-133883648-C-A c.330C>A p.N110K Missense 4/48 - 1
8-133883649-AGC-GAG c.331_333delinsGAG p.S111E Missense 4/48 - 1
8-133883649-AG-CT c.331_332inv p.S111L Missense 4/48 - 1
8-133883649-A-T c.331A>T p.S111C Missense 4/48 - 1
8-133883650-AGCACAGACACCTCCTAC-A c.332_348del p.S111Tfs*16 Frameshift 4/48 - 1
8-133883650-G-C c.332G>C p.S111T Missense 4/48 - 1
8-133883651-GC-G c.333del p.S111Rfs*56 Frameshift 4/48 - 1
8-133883652-A-G c.334A>G p.T112A Missense 4/48 - 2
8-133883652-A-AGG c.334_335insGG p.T112Rfs*56 Frameshift 4/48 - 1
8-133883652-ACA-TGT c.334_336inv p.T112C Missense 4/48 - 1
8-133883652-A-AC c.335dup p.D113Rfs*20 Frameshift 4/48 - 1
8-133883653-C-G c.335C>G p.T112R Missense 4/48 - 1
8-133883653-C-T c.335C>T p.T112I Missense 4/48 - 2
8-133883656-A-AC c.339dup p.T114Hfs*19 Frameshift 4/48 - 1
8-133883657-C-G c.339C>G p.D113E Missense 4/48 - 1
8-133883658-A-G c.340A>G p.T114A Missense 4/48 - 3
8-133883660-C-A c.342C>A p.T114= Synonymous 4/48 - 1
8-133883660-C-G c.342C>G p.T114= Synonymous 4/48 - 1
8-133883660-C-T c.342C>T p.T114= Synonymous 4/48 - 1
8-133883661-T-C c.343T>C p.S115P Missense 4/48 - 1
8-133883661-T-G c.343T>G p.S115A Missense 4/48 - 2
8-133883658-ACCT-A c.344_346del p.S115del InFrameDeletion 4/48 - 1
8-133883661-T-TC c.345dup p.Y116Lfs*17 Frameshift 4/48 - 1
8-133883663-C-T c.345C>T p.S115= Synonymous 4/48 - 1
8-133883667-C-T c.349C>T p.L117F Missense 4/48 - 2
8-133883667-CT-TG c.349_350delinsTG p.L117C Missense 4/48 - 1
8-133883668-T-G c.350T>G p.L117R Missense 4/48 - 1
8-133883670-C-T c.352C>T p.P118S Missense 4/48 - 3
8-133883670-C-G c.352C>G p.P118A Missense 4/48 - 1
8-133883668-T-TC c.353dup p.Q119Sfs*14 Frameshift 4/48 - 1
8-133883671-C-T c.353C>T p.P118L Missense 4/48 - 4
8-133883672-T-TC c.355dup p.Q119Pfs*14 Frameshift 4/48 - 1
8-133883673-TC-T c.355del p.Q119Sfs*48 Frameshift 4/48 - 1
8-133883674-CAGTGT-C c.356_360del p.Q119Pfs*12 Frameshift 4/48 - 1
8-133883675-AG-A c.357del p.Q119Hfs*48 Frameshift 4/48 - 1
8-133883674-A-AG c.357dup p.C120Vfs*13 Frameshift 4/48 - 1
8-133883679-C-T c.361C>T p.Q121* Nonsense 4/48 - 3
8-133883680-A-G c.362A>G p.Q121R Missense 4/48 - 1
8-133883680-A-AG c.364dup p.D122Gfs*11 Frameshift 4/48 - 1
8-133883682-G-T c.364G>T p.D122Y Missense 4/48 - 1
8-133883684-T-A c.366T>A p.D122E Missense 4/48 - 1
8-133883685-T-G c.367T>G p.S123A Missense 4/48 - 1
8-133883688-G-A c.370G>A p.G124R Missense 4/48 - 2
8-133883688-G-T c.370G>T p.G124W Missense 4/48 - 1
8-133883688-GGG-AGC c.370_372delinsAGC p.G124S Missense 4/48 - 1
8-133883687-A-AG c.373dup p.D125Gfs*8 Frameshift 4/48 - 1
8-133883691-G-A c.373G>A p.D125N Missense 4/48 - 2
8-133883692-A-G c.374A>G p.D125G Missense 4/48 - 1
8-133883692-A-AC c.375dup p.Y126Lfs*7 Frameshift 4/48 - 1
8-133883693-C-CTGGAAACGAAT c.376_377insGGAAACGAATT p.Y126Wfs*45 Frameshift 4/48 - 1
8-133883695-A-G c.377A>G p.Y126C Missense 4/48 - 1
8-133883696-AC-A c.378del p.Y126* Frameshift 4/48 - 1
8-133883695-A-AC c.378dup p.A127Rfs*6 Frameshift 4/48 - 1
8-133883697-G-A c.379G>A p.A127T Missense 4/48 - 2
8-133883697-G-GC c.380dup p.P128Afs*5 Frameshift 4/48 - 1
8-133883698-C-T c.380C>T p.A127V Missense 4/48 - 1
8-133883700-C-A c.382C>A p.P128T Missense 4/48 - 1
8-133883699-G-GC c.383dup p.V129Cfs*4 Frameshift 4/48 - 1
8-133883699-GC-G c.383del p.P128Lfs*39 Frameshift 4/48 - 1
8-133883701-CTGT-C c.385_387del p.V129del InFrameDeletion 4/48 - 1
8-133883706-CAG-AAC c.388_390delinsAAC p.Q130N Missense 4/48 - 1
8-133883709-TG-GC c.391_392delinsGC p.C131A Missense 4/48 - 3
8-133883710-G-A c.392G>A p.C131Y Missense 4/48 - 3
8-133883711-T-TTCAGC c.393_394insTCAGC p.D132Sfs*37 Frameshift 4/48 - 1
8-133883711-T-TG c.394dup p.D132Gfs*34 Frameshift 4/48 - 1
8-133883712-G-A c.394G>A p.D132N Missense 4/48 - 1
8-133883712-G-C c.394G>C p.D132H Missense 4/48 - 1
8-133883713-GA-G c.395del p.D132Vfs*35 Frameshift 4/48 - 1
8-133883713-A-GG c.395delinsGG p.D132Gfs*34 Frameshift 4/48 - 1
8-133883714-T-TG c.397dup p.V133Gfs*33 Frameshift 4/48 - 1
8-133883715-G-A c.397G>A p.V133M Missense 4/48 - 1
8-133883716-T-TG c.399dup p.Q134Afs*32 Frameshift 4/48 - 1
8-133883717-G-GC c.400dup p.Q134Pfs*32 Frameshift 4/48 - 1
8-133883718-GC-G c.400del p.Q134Sfs*33 Frameshift 4/48 - 1
8-133883720-G-T c.402G>T p.Q134H Missense 4/48 - 1
8-133883720-G-GC c.403dup p.Q135Pfs*31 Frameshift 4/48 - 1
8-133883721-GC-G c.403del p.Q135Rfs*32 Frameshift 4/48 - 1
8-133883722-A-AG c.406dup p.V136Gfs*30 Frameshift 4/48 - 1
8-133883722-AG-A c.406del p.V136Sfs*31 Frameshift 4/48 - 1
8-133883724-G-A c.406G>A p.V136I Missense 4/48 - 1
8-133883728-A-G c.410A>G p.Q137R Missense 4/48 - 1
8-133883729-G-T c.411G>T p.Q137H Missense 4/48 - 1
8-133883730-T-A c.412T>A p.C138S Missense 4/48 - 3
8-133883731-G-C c.413G>C p.C138S Missense 4/48 - 2
8-133883730-T-TG c.413dup p.C138Wfs*28 Frameshift 4/48 - 1
8-133883731-G-GC c.414dup p.W139Lfs*27 Frameshift 4/48 - 1
8-133883733-T-C c.415T>C p.W139R Missense 4/48 - 2
8-133883733-CTGGTGTGTGGACGCAGAGGGG-C c.415_435del p.W139_G145del InFrameDeletion 4/48 - 1
8-133883734-G-A c.416G>A p.W139* Nonsense 4/48 - 2
8-133883735-G-A c.417G>A p.W139* Nonsense 4/48 - 1
8-133883733-T-TG c.417dup p.C140Vfs*26 Frameshift 4/48 - 1
8-133883736-TG-AC c.418_419delinsAC p.C140T Missense 4/48 - 1
8-133883736-T-A c.418T>A p.C140S Missense 4/48 - 2
8-133883737-G-C c.419G>C p.C140S Missense 4/48 - 1
8-133883737-G-A c.419G>A p.C140Y Missense 4/48 - 1
8-133883738-T-TG c.421dup p.V141Gfs*25 Frameshift 4/48 - 1
8-133883742-G-A c.424G>A p.D142N Missense 4/48 - 5
8-133883742-GA-TG c.424_425delinsTG p.D142C Missense 4/48 - 2
8-133883740-T-TG c.424dup p.D142Gfs*24 Frameshift 4/48 - 1
8-133883743-A-G c.425A>G p.D142G Missense 4/48 - 1
8-133883743-A-AC c.426dup p.A143Rfs*23 Frameshift 4/48 - 1
8-133883745-G-A c.427G>A p.A143T Missense 4/48 - 2
8-133883745-G-GC c.428dup p.E144Rfs*22 Frameshift 4/48 - 1
8-133883746-C-T c.428C>T p.A143V Missense 4/48 - 1
8-133883748-G-C c.430G>C p.E144Q Missense 4/48 - 1
8-133883748-G-T c.430G>T p.E144* Nonsense 4/48 - 1
8-133883749-A-C c.431A>C p.E144A Missense 4/48 - 1
8-133883751-GGG-AGC c.433_435delinsAGC p.G145S Missense 4/48 - 2
8-133883751-GG-AC c.433_434delinsAC p.G145T Missense 4/48 - 1
8-133883751-GG-CT c.433_434delinsCT p.G145L Missense 4/48 - 1
8-133883751-G-T c.433G>T p.G145W Missense 4/48 - 1
8-133883749-A-AG c.435dup p.M146Dfs*20 Frameshift 4/48 - 1
8-133883754-A-C c.436A>C p.M146L Missense 4/48 - 8
8-133883754-A-T c.436A>T p.M146L Missense 4/48 - 8
8-133883754-A-G c.436A>G p.M146V Missense 4/48 - 9
8-133883754-AT-GC c.436_437delinsGC p.M146A Missense 4/48 - 1
8-133883755-T-C c.437T>C p.M146T Missense 4/48 - 1
8-133883757-G-A c.439G>A p.E147K Missense 4/48 - 1
8-133883755-TG-T c.439del p.E147Rfs*20 Frameshift 4/48 - 1
8-133883755-T-TG c.439dup p.E147Gfs*19 Frameshift 4/48 - 1
8-133883758-A-C c.440A>C p.E147A Missense 4/48 - 1
8-133883758-A-AG c.442dup p.V148Gfs*18 Frameshift 4/48 - 1
8-133883760-GTG-TGT c.442_444delinsTGT p.V148C Missense 4/48 - 1
8-133883760-GTG-ATC c.442_444delinsATC p.V148I Missense 4/48 - 1
8-133883760-G-GT c.443dup p.Y149Vfs*17 Frameshift 4/48 - 1
8-133883761-T-C c.443T>C p.V148A Missense 4/48 - 1
8-133883761-T-TG c.444dup p.Y149Vfs*17 Frameshift 4/48 - 1
8-133883762-G-T c.444G>T p.V148= Synonymous 4/48 - 1
8-133883766-GGG-TTT c.448_450delinsTTT p.G150F Missense 4/48 - 1
8-133883765-T-TG c.450dup p.T151Dfs*15 Frameshift 4/48 - 1
8-133883769-GAC-G c.451_452del p.T151Pfs*14 Frameshift 4/48 - 1
8-133883769-A-G c.451A>G p.T151A Missense 4/48 - 1
8-133883770-C-T c.452C>T p.T151I Missense 4/48 - 1
8-133883769-A-AC c.454dup p.R152Pfs*14 Frameshift 4/48 - 1
8-133883772-C-T c.454C>T p.R152C Missense 4/48 - 3
8-133883769-AC-A c.454del p.R152Afs*15 Frameshift 4/48 - 1
8-133883772-CG-GC c.454_455delinsGC p.R152A Missense 4/48 - 1
8-133883773-CG-C c.455del p.R152Pfs*15 Frameshift 4/48 - 1
8-133883772-C-CG c.455dup p.Q153Pfs*13 Frameshift 4/48 - 1
8-133883773-GC-AA c.455_456delinsAA p.R152Q Missense 4/48 - 1
8-133883773-G-A c.455G>A p.R152H Missense 4/48 - 2
8-133883773-GC-G c.457del p.Q153Sfs*14 Frameshift 4/48 - 1
8-133883777-AG-A c.459del p.Q153Hfs*14 Frameshift 4/48 - 1
8-133883778-CT-GC c.460_461delinsGC p.L154A Missense 4/48 - 1
8-133883781-GGG-AGC c.463_465delinsAGC p.G155S Missense 4/48 - 1
8-133883782-GG-AC c.464_465delinsAC p.G155D Missense 4/48 - 2
8-133883779-T-TG c.465dup p.R156Efs*10 Frameshift 4/48 - 1
8-133883779-TG-T c.465del p.R156Gfs*11 Frameshift 4/48 - 1
8-133883784-A-AG c.468dup p.P157Afs*9 Frameshift 4/48 - 1
8-133883787-C-T c.469C>T p.P157S Missense 4/48 - 1
8-133883787-GCCAAAGCGA-G c.469_477del p.P157_R159del SpliceDonorDeletion 4/48 - 1
8-133883790-AAAG-A c.472_474del p.K158del InFrameDeletion 4/48 - 1
8-133883790-A-G c.472A>G p.K158E Missense 4/48 - 1
8-133883790-AA-GC c.472_473delinsGC p.K158A Missense 4/48 - 1
8-133883791-A-G c.473A>G p.K158R Missense 4/48 - 1
8-133883794-G-A c.476G>A p.R159Q Missense 4/48 - 3
8-133883795-A-ACCTC c.477_478insCCTC p.C160Pfs*7 SpliceDonorInsertion 4/48 - 1
8-133883796-T-G c.478T>G p.C160G Missense 4/48 - 1
8-133883796-T-A c.478T>A p.C160S Missense 4/48 - 1
8-133885307-G-C c.479G>C p.C160S Missense 5/48 - 1
8-133885305-A-AG c.479dup p.C160Wfs*6 SpliceAcceptorInsertion 5/48 - 1
8-133885309-C-T c.481C>T p.P161S Missense 5/48 - 2
8-133885308-T-TC c.482dup p.R162Kfs*4 Frameshift 5/48 - 1
8-133885310-C-T c.482C>T p.P161L Missense 5/48 - 1
8-133885309-CCAAGGAG-C c.483_489del p.R162Vfs*3 Frameshift 5/48 - 1
8-133885312-AG-CA c.484_485delinsCA p.R162Q Missense 5/48 - 1
8-133885310-CA-C c.484del p.R162Gfs*5 Frameshift 5/48 - 1
8-133885312-A-T c.484A>T p.R162W Missense 5/48 - 2
8-133885314-G-GT c.486_487insT p.S163* Nonsense 5/48 - 1
8-133885312-A-AG c.486dup p.S163Efs*3 Frameshift 5/48 - 1
8-133885316-G-C c.488G>C p.S163T Missense 5/48 - 1
8-133885316-G-T c.488G>T p.S163I Missense 5/48 - 1
8-133885316-G-A c.488G>A p.S163N Missense 5/48 - 1
8-133885317-C-T c.489C>T p.S163= Synonymous 5/48 - 1
8-133885317-C-G c.489C>G p.S163R Missense 5/48 - 1
8-133885317-C-A c.489C>A p.S163R Missense 5/48 - 1
8-133885315-A-C c.487A>C p.S163R Missense 5/48 - 1
8-133885318-TG-CA c.490_491inv p.C164H Missense 5/48 - 1
8-133885319-G-A c.491G>A p.C164Y Missense 5/48 - 2
8-133885317-CTG-C c.492_493del p.C164* Frameshift 5/48 - 1
8-133885321-G-A c.493G>A p.E165K Missense 5/48 - 1
8-133885322-A-C c.494A>C p.E165A Missense 5/48 - 3
8-133885326-A-AT c.498_499insT p.R167* Nonsense 5/48 - 1
8-133885327-A-G c.499A>G p.R167G Missense 5/48 - 2
8-133885327-AG-GC c.499_500delinsGC p.R167A Missense 5/48 - 1
8-133885327-AG-CA c.499_500delinsCA p.R167Q Missense 5/48 - 1
8-133885327-AGA-TGG c.499_501delinsTGG p.R167W Missense 5/48 - 1
8-133885328-G-A c.500G>A p.R167K Missense 5/48 - 2
8-133885328-AG-A c.500del p.R167Kfs*36 Frameshift 5/48 - 1
8-133885330-AA-GC c.502_503delinsGC p.N168A Missense 5/48 - 1
8-133885330-A-G c.502A>G p.N168D Missense 5/48 - 2
8-133885330-A-C c.502A>C p.N168H Missense 5/48 - 1
8-133885328-GA-G c.503del p.N168Ifs*35 Frameshift 5/48 - 1
8-133885333-C-T c.505C>T p.R169C Missense 5/48 - 2
8-133885333-C-CG c.506dup p.R170Sfs*9 Frameshift 5/48 - 1
8-133885335-T-TC c.508dup p.R170Pfs*9 Frameshift 5/48 - 1
8-133885339-C-T c.511C>T p.L171F Missense 5/48 - 1
8-133885342-C-T c.514C>T p.L172F Missense 5/48 - 1
8-133885343-T-C c.515T>C p.L172P Missense 5/48 - 1
8-133885344-C-G c.516C>G p.L172= Synonymous 5/48 - 1
8-133885344-C-T c.516C>T p.L172= Synonymous 5/48 - 1
8-133885343-T-TC c.517dup p.H173Pfs*6 Frameshift 5/48 - 1
8-133885345-C-T c.517C>T p.H173Y Missense 5/48 - 1
8-133885347-C-A c.519C>A p.H173Q Missense 5/48 - 1
8-133885347-C-G c.519C>G p.H173Q Missense 5/48 - 1
8-133885348-GGG-TGT c.520_522delinsTGT p.G174C Missense 5/48 - 5
8-133885348-GG-AC c.520_521delinsAC p.G174T Missense 5/48 - 1
8-133885348-G-A c.520G>A p.G174R Missense 5/48 - 1
8-133885349-G-GC c.521_522insC p.V175Gfs*4 Frameshift 5/48 - 1
8-133885349-G-C c.521G>C p.G174A Missense 5/48 - 2
8-133885349-GG-AC c.521_522delinsAC p.G174D Missense 5/48 - 1
8-133885351-G-A c.523G>A p.V175M Missense 5/48 - 3
8-133885347-C-CG c.523dup p.V175Gfs*4 Frameshift 5/48 - 1
8-133885347-CG-C c.523del p.V175Wfs*28 Frameshift 5/48 - 1
8-133885351-G-C c.523G>C p.V175L Missense 5/48 - 1
8-133885351-G-T c.523G>T p.V175L Missense 5/48 - 1
8-133885352-T-C c.524T>C p.V175A Missense 5/48 - 1
8-133885350-GGTGGGAGATAA-G c.525_535del p.G176Tfs*27 Frameshift 5/48 - 1
8-133885352-T-TG c.527dup p.D177Rfs*2 Frameshift 5/48 - 1
8-133885355-G-A c.527G>A p.G176E Missense 5/48 - 3
8-133885352-TG-T c.527del p.G176Efs*27 Frameshift 5/48 - 1
8-133885356-A-AG c.529dup p.D177Gfs*2 Frameshift 5/48 - 1
8-133885358-A-C c.530A>C p.D177A Missense 5/48 - 1
8-133885358-A-T c.530A>T p.D177V Missense 5/48 - 1
8-133885357-GATAAGTCACCACCCCAGTGTTCTGCGGAGGGAGAGTTTATGCCTGTCC-G c.531_578del p.D177_Q193delinsE MultiAAMissense 5/48 - 1
8-133885359-AT-A c.531del p.D177Efs*26 Frameshift 5/48 - 1
8-133885360-A-G c.532A>G p.K178E Missense 5/48 - 6
8-133885361-A-G c.533A>G p.K178R Missense 5/48 - 1
8-133885360-AAGTCACCACCCCAGTGTTCTGCGGAGGGAGAGTTTATGCCTGTCCAGTGCAAATTTGTC-A c.534_592del p.S179Hfs*8 MultiAAMissense 5/48 - 1
8-133885363-TC-GG c.535_536delinsGG p.S179G Missense 5/48 - 1
8-133885363-T-A c.535T>A p.S179T Missense 5/48 - 1
8-133885363-T-G c.535T>G p.S179A Missense 5/48 - 1
8-133885363-T-TC c.536dup p.P180Tfs*27 Frameshift 5/48 - 1
8-133885364-CA-GT c.536_537delinsGT p.S179C Missense 5/48 - 1
8-133885364-C-T c.536C>T p.S179L Missense 5/48 - 1
8-133885365-A-AG c.537_538insG p.P180Afs*27 Frameshift 5/48 - 1
8-133885366-CC-GG c.538_539inv p.P180G Missense 5/48 - 1
8-133885365-A-AC c.539dup p.P181Tfs*26 Frameshift 5/48 - 1
8-133885363-TCAC-T c.540_542del p.P181del InFrameDeletion 5/48 - 1
8-133885370-C-A c.542C>A p.P181H Missense 5/48 - 1
8-133885370-C-T c.542C>T p.P181L Missense 5/48 - 1
8-133885368-AC-A c.544del p.Q182Sfs*21 Frameshift 5/48 - 2
8-133885368-A-AC c.544dup p.Q182Pfs*25 Frameshift 5/48 - 1
8-133885372-C-T c.544C>T p.Q182* Nonsense 5/48 - 1
8-133885373-A-AG c.546dup p.C183Vfs*24 Frameshift 5/48 - 1
8-133885374-G-A c.546G>A p.Q182= Synonymous 5/48 - 2
8-133885375-T-A c.547T>A p.C183S Missense 5/48 - 1
8-133885376-G-C c.548G>C p.C183S Missense 5/48 - 1
8-133885375-T-TG c.548dup p.C183Wfs*24 Frameshift 5/48 - 1
8-133885376-GT-G c.550del p.S184Lfs*19 Frameshift 5/48 - 1
8-133885378-T-G c.550T>G p.S184A Missense 5/48 - 1
8-133885379-C-G c.551C>G p.S184C Missense 5/48 - 1
8-133885379-CT-AA c.551_552delinsAA p.S184* Nonsense 5/48 - 1
8-133885381-G-T c.553G>T p.A185S Missense 5/48 - 13
8-133885381-G-GC c.554dup p.E186Gfs*21 Frameshift 5/48 - 1
8-133885382-C-T c.554C>T p.A185V Missense 5/48 - 1
8-133885383-G-T c.555G>T p.A185= Synonymous 5/48 - 1
8-133885384-G-T c.556G>T p.E186* Nonsense 5/48 - 1
8-133885384-G-C c.556G>C p.E186Q Missense 5/48 - 1
8-133885385-A-C c.557A>C p.E186A Missense 5/48 - 2
8-133885386-G-A c.558G>A p.E186= Synonymous 5/48 - 1
8-133885386-G-C c.558G>C p.E186D Missense 5/48 - 1
8-133885388-G-T c.560G>T p.G187V Missense 5/48 - 1
8-133885391-A-C c.563A>C p.E188A Missense 5/48 - 3
8-133885398-TGCCTG-T c.570_574del p.M190Ifs*15 Frameshift 5/48 - 1
8-133885398-G-T c.570G>T p.M190I Missense 5/48 - 1
8-133885399-C-A c.571C>A p.P191T Missense 5/48 - 1
8-133885399-C-T c.571C>T p.P191S Missense 5/48 - 1
8-133885398-G-GC c.572dup p.V192Cfs*15 Frameshift 5/48 - 1
8-133885403-T-C c.575T>C p.V192A Missense 5/48 - 2
8-133885404-C-T c.576C>T p.V192= Synonymous 5/48 - 1
8-133885403-T-TC c.577dup p.Q193Pfs*14 Frameshift 5/48 - 1
8-133885403-TC-T c.577del p.Q193Sfs*10 Frameshift 5/48 - 2
8-133885405-C-T c.577C>T p.Q193* Nonsense 5/48 - 2
8-133885406-A-AT c.578_579insT p.Q193Hfs*14 Frameshift 5/48 - 1
8-133885406-A-G c.578A>G p.Q193R Missense 5/48 - 2
8-133885408-TG-GC c.580_581delinsGC p.C194A Missense 5/48 - 3
8-133885409-G-C c.581G>C p.C194S Missense 5/48 - 1
8-133885408-T-A c.580T>A p.C194S Missense 5/48 - 1
8-133885408-T-TG c.581dup p.C194Wfs*13 Frameshift 5/48 - 2
8-133885410-C-T c.582C>T p.C194= Synonymous 5/48 - 1
8-133885411-AA-GC c.583_584delinsGC p.K195A Missense 5/48 - 2
8-133885412-A-G c.584A>G p.K195R Missense 5/48 - 2
8-133885410-CA-C c.585del p.K195Nfs*8 Frameshift 5/48 - 1
8-133885414-T-TG c.586_587insG p.F196Cfs*11 Frameshift 5/48 - 1
8-133885414-TT-GC c.586_587delinsGC p.F196A Missense 5/48 - 1
8-133885415-TT-GG c.587_588delinsGG p.F196W Missense 5/48 - 1
8-133885415-T-C c.587T>C p.F196S Missense 5/48 - 1
8-133885417-GTC-ATG c.589_591delinsATG p.V197M Missense 5/48 - 1
8-133885418-T-TC c.591dup p.N198Qfs*9 Frameshift 5/48 - 1
8-133885420-AA-GC c.592_593delinsGC p.N198A Missense 5/48 - 2
8-133885420-A-G c.592A>G p.N198D Missense 5/48 - 1
8-133885421-A-G c.593A>G p.N198S Missense 5/48 - 1
8-133885423-A-G c.595A>G p.T199A Missense 5/48 - 1
8-133885424-C-G c.596C>G p.T199S Missense 5/48 - 1
8-133885423-A-T c.595A>T p.T199S Missense 5/48 - 1
8-133885424-CC-AG c.596_597delinsAG p.T199K Missense 5/48 - 1
8-133885426-A-G c.598A>G p.T200A Missense 5/48 - 1
8-133885426-ACA-CAT c.598_600delinsCAT p.T200H Missense 5/48 - 1
8-133885426-A-AC c.599dup p.D201Rfs*6 Frameshift 5/48 - 1
8-133885427-C-T c.599C>T p.T200I Missense 5/48 - 1
8-133885429-G-A c.601G>A p.D201N Missense 5/48 - 1
8-133885430-A-C c.602A>C p.D201A Missense 5/48 - 1
8-133885431-C-CA c.604dup p.M202Nfs*5 Frameshift 5/48 - 1
8-133885433-ATG-A c.605_606del p.M202Nfs*4 Frameshift 5/48 - 1
8-133885435-ATG-TTT c.607_609delinsTTT p.M203F Missense 5/48 - 1
8-133885437-G-A c.609G>A p.M203I Missense 5/48 - 1
8-133885437-TG-T c.609del p.M203Ifs*17 Frameshift 5/48 - 1
8-133885440-T-TC c.612_613insC p.F205Lfs*2 Frameshift 5/48 - 1
8-133885440-T-G c.612T>G p.I204M Missense 5/48 - 1
8-133885442-T-G c.614T>G p.F205C Missense 5/48 - 1
8-133885438-A-AT c.615dup p.D206* Nonsense 5/48 - 1
8-133885443-T-G c.615T>G p.F205L Missense 5/48 - 1
8-133885445-A-C c.617A>C p.D206A Missense 5/48 - 1
8-133885446-T-G c.618T>G p.D206E Missense 5/48 - 2
8-133885446-T-A c.618T>A p.D206E Missense 5/48 - 2
8-133885447-CTGG-C c.621_623del p.V208del InFrameDeletion 5/48 - 1
8-133885448-T-TG c.622dup p.V208Gfs*23 Frameshift 5/48 - 2
8-133885450-G-A c.622G>A p.V208I Missense 5/48 - 1
8-133885450-GT-AA c.622_623delinsAA p.V208N Missense 5/48 - 1
8-133885451-T-C c.623T>C p.V208A Missense 5/48 - 2
8-133885451-T-TC c.625dup p.H209Pfs*22 Frameshift 5/48 - 1
8-133885453-CA-GC c.625_626delinsGC p.H209A Missense 5/48 - 1
8-133885454-A-G c.626A>G p.H209R Missense 5/48 - 1
8-133885454-A-AC c.627dup p.S210Qfs*21 Frameshift 5/48 - 1
8-133885455-AC-A c.627del p.H209Qfs*11 Frameshift 5/48 - 1
8-133885456-A-AG c.629dup p.S210Rfs*21 Frameshift 5/48 - 1
8-133885457-G-GC c.630dup p.Y211Lfs*20 Frameshift 5/48 - 1
8-133885459-TA-GC c.631_632delinsGC p.Y211A Missense 5/48 - 1
8-133885459-T-C c.631T>C p.Y211H Missense 5/48 - 1
8-133885459-TA-GG c.631_632delinsGG p.Y211G Missense 5/48 - 1
8-133885460-A-AC c.633dup p.N212Qfs*19 Frameshift 5/48 - 1
8-133885463-A-G c.635A>G p.N212S Missense 5/48 - 1
8-133885464-AC-A c.636del p.N212Kfs*8 Frameshift 5/48 - 1
8-133885465-A-G c.637A>G p.R213G Missense 5/48 - 13
8-133885465-AG-GA c.637_638delinsGA p.R213E Missense 5/48 - 1
8-133885465-AG-CT c.637_638inv p.R213L Missense 5/48 - 1
8-133885465-A-AG c.638+1dup - SpliceDonorInsertion - 5/47 1
8-133885467-G-A c.638+1G>A - IntronicSNV - 5/47 1
8-133885471-G-A c.638+5G>A - IntronicSNV - 5/47 2
8-133885477-C-A c.638+11C>A - IntronicSNV - 5/47 1
8-133894108-G-A c.639G>A p.R213= Synonymous 6/48 - 2
8-133885465-A-C c.637A>C p.R213= Synonymous 5/48 - 3
8-133894109-T-C c.640T>C p.F214L Missense 6/48 - 2
8-133894110-T-C c.641T>C p.F214S Missense 6/48 - 1
8-133894111-T-TC c.644dup p.D216Rfs*15 Frameshift 6/48 - 1
8-133894114-A-AT c.645_646insT p.D216* Nonsense 6/48 - 1
8-133894115-G-C c.646G>C p.D216H Missense 6/48 - 1
8-133894115-G-A c.646G>A p.D216N Missense 6/48 - 1
8-133894117-ATGCATTTGT-A c.648_656del p.D216_V219delinsE MultiAAMissense 6/48 - 1
8-133894117-T-TG c.649dup p.A217Gfs*14 Frameshift 6/48 - 1
8-133894118-G-GC c.650dup p.F218Ifs*13 Frameshift 6/48 - 2
8-133894119-C-A c.650C>A p.A217E Missense 6/48 - 1
8-133894120-A-T c.651A>T p.A217= Synonymous 6/48 - 1
8-133894123-T-TG c.655dup p.V219Gfs*12 Frameshift 6/48 - 1
8-133894124-TG-T c.655del p.V219* Frameshift 6/48 - 2
8-133894127-A-G c.658A>G p.T220A Missense 6/48 - 1
8-133894127-AC-TG c.658_659delinsTG p.T220C Missense 6/48 - 1
8-133894127-GAC-G c.658_659del p.T220Lfs*10 Frameshift 6/48 - 2
8-133894128-C-T c.659C>T p.T220I Missense 6/48 - 1
8-133894127-A-AC c.660dup p.F221Lfs*10 Frameshift 6/48 - 1
8-133894127-AC-A c.660del p.F221Sfs*181 Frameshift 6/48 - 1
8-133894131-T-TG c.662_663insG p.F221Lfs*10 Frameshift 6/48 - 1
8-133894133-AG-GA c.664_665delinsGA p.S222D Missense 6/48 - 1
8-133894133-AGTTCCTTCCAGAGGAG-CCGACT c.664_680delinsCCGACT p.S222Pfs*5 Frameshift 6/48 - 1
8-133894133-AG-CT c.664_665inv p.S222L Missense 6/48 - 1
8-133894133-A-AG c.665dup p.S222Rfs*9 Frameshift 6/48 - 1
8-133894134-G-T c.665G>T p.S222I Missense 6/48 - 1
8-133894135-GTTCCTTCCAGAGGAGGTTCCCT-G c.666_687del p.S222Rfs*173 Frameshift 6/48 - 1
8-133894136-TC-GA c.667_668inv p.S223D Missense 6/48 - 1
8-133894136-T-G c.667T>G p.S223A Missense 6/48 - 2
8-133894137-C-CAGGA c.668_669insAGGA p.F224Gfs*8 Frameshift 6/48 - 1
8-133894137-C-T c.668C>T p.S223F Missense 6/48 - 1
8-133894139-TTC-GAG c.670_672delinsGAG p.F224E Missense 6/48 - 1
8-133894139-TT-GG c.670_671delinsGG p.F224G Missense 6/48 - 1
8-133894140-T-A c.671T>A p.F224Y Missense 6/48 - 1
8-133894142-C-T c.673C>T p.Q225* Nonsense 6/48 - 1
8-133894142-CAGAGGAGGT-TGCAA c.673_682delinsTGCAA p.Q225Cfs*4 Frameshift 6/48 - 1
8-133894144-G-T c.675G>T p.Q225H Missense 6/48 - 1
8-133894144-G-C c.675G>C p.Q225H Missense 6/48 - 1
8-133894145-AG-GC c.676_677delinsGC p.R226A Missense 6/48 - 1
8-133894145-A-T c.676A>T p.R226W Missense 6/48 - 1
8-133894145-AG-CT c.676_677inv p.R226L Missense 6/48 - 1
8-133894146-G-A c.677G>A p.R226K Missense 6/48 - 2
8-133894146-GG-TC c.677_678delinsTC p.R226I Missense 6/48 - 1
8-133894145-A-AG c.678dup p.R227Efs*4 Frameshift 6/48 - 1
8-133894148-AG-TA c.679_680delinsTA p.R227* Nonsense 6/48 - 1
8-133894148-AG-GC c.679_680delinsGC p.R227A Missense 6/48 - 1
8-133894148-A-T c.679A>T p.R227W Missense 6/48 - 1
8-133894148-AG-CA c.679_680delinsCA p.R227Q Missense 6/48 - 2
8-133894148-A-G c.679A>G p.R227G Missense 6/48 - 1
8-133894148-A-AG c.681dup p.F228Vfs*3 Frameshift 6/48 - 1
8-133894150-GGTT-G c.681_683del p.R227_F228delinsS MultiAAMissense 6/48 - 1
8-133894150-G-A c.681G>A p.R227= Synonymous 6/48 - 1
8-133894151-T-TG c.682_683insG p.F228Cfs*3 Frameshift 6/48 - 1
8-133894149-G-GGTGA c.682_683insGAGT p.F228* Nonsense 6/48 - 1
8-133894151-T-TAAATCTGAC c.682_683insAAATCTGAC p.F228delins* Nonsense 6/48 - 1
8-133894152-T-C c.683T>C p.F228S Missense 6/48 - 1
8-133894150-GT-G c.683del p.F228Sfs*174 Frameshift 6/48 - 1
8-133894153-C-T c.684C>T p.F228= Synonymous 6/48 - 1
8-133894154-C-G c.685C>G p.P229A Missense 6/48 - 1
8-133894154-C-T c.685C>T p.P229S Missense 6/48 - 1
8-133894152-T-TC c.686dup p.E230* Nonsense 6/48 - 1
8-133894155-C-T c.686C>T p.P229L Missense 6/48 - 1
8-133894157-G-A c.688G>A p.E230K Missense 6/48 - 2
8-133894158-A-AG c.691dup p.V231Gfs*9 Frameshift 6/48 - 1
8-133894160-GTA-ATG c.691_693delinsATG p.V231M Missense 6/48 - 1
8-133894163-T-A c.694T>A p.S232T Missense 6/48 - 1
8-133894163-T-TC c.695dup p.G233Wfs*7 Frameshift 6/48 - 1
8-133894164-TC-T c.695del p.S232Lfs*170 Frameshift 6/48 - 2
8-133894164-CT-GG c.695_696delinsGG p.S232W Missense 6/48 - 1
8-133894164-CT-AA c.695_696delinsAA p.S232* Nonsense 6/48 - 1
8-133894164-C-T c.695C>T p.S232F Missense 6/48 - 1
8-133894166-GGG-AGC c.697_699delinsAGC p.G233S Missense 6/48 - 2
8-133894166-GGG-TGT c.697_699delinsTGT p.G233C Missense 6/48 - 1
8-133894167-G-T c.698G>T p.G233V Missense 6/48 - 1
8-133894167-G-A c.698G>A p.G233E Missense 6/48 - 1
8-133894165-T-TG c.699dup p.Y234Vfs*6 Frameshift 6/48 - 1
8-133894169-T-A c.700T>A p.Y234N Missense 6/48 - 3
8-133894169-T-C c.700T>C p.Y234H Missense 6/48 - 1
8-133894170-A-T c.701A>T p.Y234F Missense 6/48 - 2
8-133894170-A-AT c.703dup p.C235Lfs*5 Frameshift 6/48 - 1
8-133894172-T-A c.703T>A p.C235S Missense 6/48 - 2
8-133894173-G-C c.704G>C p.C235S Missense 6/48 - 2
8-133894172-TG-AC c.703_704delinsAC p.C235T Missense 6/48 - 1
8-133894172-T-G c.703T>G p.C235G Missense 6/48 - 1
8-133894172-T-TG c.704dup p.C235Wfs*5 Frameshift 6/48 - 1
8-133894174-C-A c.705C>A p.C235* Nonsense 6/48 - 1
8-133894179-G-C c.710G>C p.C237S Missense 6/48 - 1
8-133894178-T-TG c.710dup p.C237Wfs*3 Frameshift 6/48 - 1
8-133894179-TG-T c.710del p.C237Lfs*165 Frameshift 6/48 - 1
8-133894181-G-A c.712G>A p.A238T Missense 6/48 - 1
8-133894181-TG-T c.712del p.A238Lfs*164 Frameshift 6/48 - 1
8-133894181-GC-CT c.712_713delinsCT p.A238L Missense 6/48 - 2
8-133894182-C-T c.713C>T p.A238V Missense 6/48 - 1
8-133894183-CTGACA-C c.714_718del p.D239Pfs*7 Frameshift 6/48 - 1
8-133894184-TGAC-T c.715_717del p.D239del InFrameDeletion 6/48 - 1
8-133894184-G-A c.715G>A p.D239N Missense 6/48 - 1
8-133894185-A-C c.716A>C p.D239A Missense 6/48 - 1
8-133894185-A-AC c.717dup p.S240Qfs*8 Frameshift 6/48 - 1
8-133894187-AG-CC c.718_719delinsCC p.S240P Missense 6/48 - 1
8-133894187-AG-TT c.718_719delinsTT p.S240F Missense 6/48 - 1
8-133894187-A-AG c.719dup p.S240Rfs*8 Frameshift 6/48 - 1
8-133894188-G-C c.719G>C p.S240T Missense 6/48 - 1
8-133894191-A-G c.722A>G p.Q241R Missense 6/48 - 1
8-133894194-G-A c.725G>A p.G242E Missense 6/48 - 1
8-133894194-G-C c.725G>C p.G242A Missense 6/48 - 1
8-133894192-A-AG c.726dup p.R243Afs*5 Frameshift 6/48 - 1
8-133894195-G-T c.726G>T p.G242= Synonymous 6/48 - 1
8-133894195-G-C c.726G>C p.G242= Synonymous 6/48 - 1
8-133894195-G-A c.726G>A p.G242= Synonymous 6/48 - 1
8-133894195-G-GC c.727dup p.R243Pfs*5 Frameshift 6/48 - 1
8-133894196-C-T c.727C>T p.R243W Missense 6/48 - 4
8-133894196-GC-G c.727del p.R243Gfs*159 Frameshift 6/48 - 1
8-133894196-CGG-AGC c.727_729delinsAGC p.R243S Missense 6/48 - 1
8-133894197-G-C c.728G>C p.R243P Missense 6/48 - 2
8-133894197-G-A c.728G>A p.R243Q Missense 6/48 - 1
8-133894197-G-T c.728G>T p.R243L Missense 6/48 - 1
8-133894197-GG-AT c.728_729delinsAT p.R243H Missense 6/48 - 1
8-133894196-C-CG c.730dup p.E244Gfs*4 Frameshift 6/48 - 1
8-133894196-CG-C c.730del p.E244Nfs*158 Frameshift 6/48 - 1
8-133894200-A-G c.731A>G p.E244G Missense 6/48 - 1
8-133894202-C-G c.733C>G p.L245V Missense 6/48 - 1
8-133894202-C-T c.733C>T p.L245= Synonymous 6/48 - 1
8-133894204-G-GTTTTTTTT c.735_736insTTTTTTTT p.A246Ffs*159 Frameshift 6/48 - 1
8-133894203-T-TG c.736dup p.A246Gfs*2 Frameshift 6/48 - 1
8-133894205-G-T c.736G>T p.A246S Missense 6/48 - 1
8-133894206-CT-AG c.737_738inv p.A246E Missense 6/48 - 1
8-133894208-G-T c.739G>T p.E247* Nonsense 6/48 - 1
8-133894211-GA-G c.742del p.T248Qfs*154 Frameshift 6/48 - 1
8-133894211-A-AC c.743dup p.G249Rfs*8 SpliceDonorInsertion 6/48 - 1
8-133894214-G-T c.745G>T p.G249C Missense 6/48 - 1
8-133894712-A-AG c.746dup p.L250Ffs*7 SpliceAcceptorInsertion 7/48 - 1
8-133894716-TT-AC c.748_749delinsAC p.L250T Missense 7/48 - 1
8-133894717-T-C c.749T>C p.L250S Missense 7/48 - 1
8-133894717-T-TG c.751dup p.E251Gfs*6 Frameshift 7/48 - 1
8-133894719-G-GA c.752dup p.L252Vfs*5 Frameshift 7/48 - 1
8-133894722-TT-AG c.754_755delinsAG p.L252R Missense 7/48 - 2
8-133894722-T-G c.754T>G p.L252V Missense 7/48 - 3
8-133894722-TT-GC c.754_755delinsGC p.L252A Missense 7/48 - 1
8-133894722-TT-CC c.754_755delinsCC p.L252P Missense 7/48 - 1
8-133894723-T-C c.755T>C p.L252S Missense 7/48 - 1
8-133894723-T-TG c.756dup p.L253Vfs*4 Frameshift 7/48 - 1
8-133894725-T-G c.757T>G p.L253V Missense 7/48 - 1
8-133894726-T-G c.758T>G p.L253* Nonsense 7/48 - 1
8-133894728-CT-GC c.760_761delinsGC p.L254A Missense 7/48 - 2
8-133894728-CTG-TAT c.760_762delinsTAT p.L254Y Missense 7/48 - 1
8-133894730-G-T c.762G>T p.L254= Synonymous 7/48 - 1
8-133894729-T-TG c.763dup p.D255Gfs*2 Frameshift 7/48 - 1
8-133894731-G-C c.763G>C p.D255H Missense 7/48 - 1
8-133894733-T-G c.765T>G p.D255E Missense 7/48 - 2
8-133894733-T-A c.765T>A p.D255E Missense 7/48 - 2
8-133894731-GATGAA-G c.766_770del p.E256Lfs*2 Frameshift 7/48 - 1
8-133894734-G-A c.766G>A p.E256K Missense 7/48 - 1
8-133894735-A-G c.767A>G p.E256G Missense 7/48 - 1
8-133894740-TTATG-T c.772_775del p.Y258Tfs*143 Frameshift 7/48 - 1
8-133894742-T-TC c.774_775insC p.D259Rfs*15 Frameshift 7/48 - 1
8-133894742-T-TG c.775dup p.D259Gfs*15 Frameshift 7/48 - 1
8-133894743-TG-T c.775del p.D259Tfs*143 Frameshift 7/48 - 1
8-133894744-A-C c.776A>C p.D259A Missense 7/48 - 2
8-133894745-C-A c.777C>A p.D259E Missense 7/48 - 1
8-133894746-A-G c.778A>G p.T260A Missense 7/48 - 1
8-133894746-A-AC c.780dup p.I261Hfs*13 Frameshift 7/48 - 2
8-133894749-CA-C c.781del p.I261Ffs*141 Frameshift 7/48 - 1
8-133894749-A-AG c.781_782insG p.I261Sfs*13 Frameshift 7/48 - 1
8-133894749-ATT-GAG c.781_783delinsGAG p.I261E Missense 7/48 - 1
8-133894750-T-C c.782T>C p.I261T Missense 7/48 - 1
8-133894755-G-T c.787G>T p.A263S Missense 7/48 - 1
8-133894756-C-T c.788C>T p.A263V Missense 7/48 - 1
8-133894756-C-G c.788C>G p.A263G Missense 7/48 - 1
8-133894758-G-C c.790G>C p.G264R Missense 7/48 - 1
8-133894757-T-TG c.791dup p.L265Pfs*9 Frameshift 7/48 - 1
8-133894759-G-A c.791G>A p.G264D Missense 7/48 - 1
8-133894759-G-GC c.793dup p.L265Pfs*9 Frameshift 7/48 - 1
8-133894761-CCTGGACCTTCCT-C c.793_804del p.L265_P268del InFrameDeletion 7/48 - 1
8-133894761-CT-TG c.793_794delinsTG p.L265W Missense 7/48 - 1
8-133894761-C-T c.793C>T p.L265= Synonymous 7/48 - 1
8-133894761-C-A c.793C>A p.L265M Missense 7/48 - 1
8-133894762-T-C c.794T>C p.L265P Missense 7/48 - 1
8-133894760-CCTGGACCTT-C c.794_802del p.L265_L267del InFrameDeletion 7/48 - 1
8-133894762-T-G c.794T>G p.L265R Missense 7/48 - 1
8-133894764-G-A c.796G>A p.D266N Missense 7/48 - 1
8-133894765-A-C c.797A>C p.D266A Missense 7/48 - 1
8-133894765-A-G c.797A>G p.D266G Missense 7/48 - 1
8-133894765-A-AC c.799dup p.L267Pfs*7 Frameshift 7/48 - 1
8-133894770-C-T c.802C>T p.P268S Missense 7/48 - 5
8-133894770-C-A c.802C>A p.P268T Missense 7/48 - 1
8-133894769-T-TC c.803dup p.S269Ffs*5 Frameshift 7/48 - 2
8-133894773-T-G c.805T>G p.S269A Missense 7/48 - 1
8-133894773-TC-GA c.805_806inv p.S269D Missense 7/48 - 1
8-133894773-TC-T c.807del p.T270Pfs*132 Frameshift 7/48 - 2
8-133894776-AC-CT c.808_809delinsCT p.T270L Missense 7/48 - 1
8-133894776-AC-TT c.808_809delinsTT p.T270F Missense 7/48 - 1
8-133894777-CC-AG c.809_810delinsAG p.T270K Missense 7/48 - 1
8-133894777-C-T c.809C>T p.T270I Missense 7/48 - 1
8-133894776-A-AC c.810dup p.F271Lfs*3 Frameshift 7/48 - 1
8-133894778-C-A c.810C>A p.T270= Synonymous 7/48 - 2
8-133894778-C-G c.810C>G p.T270= Synonymous 7/48 - 2
8-133894778-C-T c.810C>T p.T270= Synonymous 7/48 - 1
8-133894776-AC-A c.810del p.F271Sfs*131 Frameshift 7/48 - 1
8-133894780-T-TC c.813dup p.T272Hfs*2 Frameshift 7/48 - 1
8-133894783-C-G c.815C>G p.T272S Missense 7/48 - 1
8-133894782-A-T c.814A>T p.T272S Missense 7/48 - 1
8-133894787-A-T c.819A>T p.E273D Missense 7/48 - 1
8-133894785-GA-G c.820del p.T274Pfs*128 Frameshift 7/48 - 1
8-133894788-A-G c.820A>G p.T274A Missense 7/48 - 1
8-133894788-A-AC c.822dup p.T275Hfs*28 Frameshift 7/48 - 1
8-133894791-A-G c.823A>G p.T275A Missense 7/48 - 3
8-133894793-C-A c.825C>A p.T275= Synonymous 7/48 - 2
8-133894793-C-G c.825C>G p.T275= Synonymous 7/48 - 2
8-133894793-C-T c.825C>T p.T275= Synonymous 7/48 - 2
8-133894791-A-AC c.826dup p.L276Pfs*27 Frameshift 7/48 - 1
8-133894794-CTG-GAC c.826_828delinsGAC p.L276D Missense 7/48 - 7
8-133894794-CTG-TGT c.826_828delinsTGT p.L276C Missense 7/48 - 1
8-133894794-CT-GC c.826_827delinsGC p.L276A Missense 7/48 - 1
8-133894794-C-T c.826C>T p.L276= Synonymous 7/48 - 1
8-133894795-T-C c.827T>C p.L276P Missense 7/48 - 1
8-133894795-T-G c.827T>G p.L276R Missense 7/48 - 1
8-133894795-T-TG c.828dup p.Y277Vfs*26 Frameshift 7/48 - 1
8-133894796-G-A c.828G>A p.L276= Synonymous 7/48 - 1
8-133894798-A-G c.830A>G p.Y277C Missense 7/48 - 1
8-133894800-CGG-TGT c.832_834delinsTGT p.R278C Missense 7/48 - 1
8-133894800-CG-GC c.832_833delinsGC p.R278A Missense 7/48 - 1
8-133894800-C-CG c.834dup p.I279Dfs*24 Frameshift 7/48 - 1
8-133894805-TAC-T c.837_838del p.L280Afs*22 Frameshift 7/48 - 1
8-133894806-C-T c.838C>T p.L280= Synonymous 7/48 - 2
8-133894806-CTG-TTT c.838_840delinsTTT p.L280F Missense 7/48 - 1
8-133894807-T-C c.839T>C p.L280P Missense 7/48 - 1
8-133894808-G-GC c.841dup p.Q281Pfs*22 Frameshift 7/48 - 1
8-133894812-A-T c.844A>T p.R282* Nonsense 7/48 - 1
8-133894812-AGA-TGG c.844_846delinsTGG p.R282W Missense 7/48 - 2
8-133894812-AG-CA c.844_845delinsCA p.R282Q Missense 7/48 - 1
8-133894812-A-G c.844A>G p.R282G Missense 7/48 - 1
8-133894812-A-AG c.845dup p.R283Tfs*20 Frameshift 7/48 - 1
8-133894813-G-A c.845G>A p.R282K Missense 7/48 - 1
8-133894814-A-C c.846A>C p.R282S Missense 7/48 - 2
8-133894814-A-T c.846A>T p.R282S Missense 7/48 - 2
8-133894815-AC-A c.847del p.R283Gfs*119 Frameshift 7/48 - 2
8-133894815-C-T c.847C>T p.R283W Missense 7/48 - 1
8-133894815-CGG-GAC c.847_849delinsGAC p.R283D Missense 7/48 - 1
8-133894815-C-G c.847C>G p.R283G Missense 7/48 - 1
8-133894815-CG-GA c.847_848delinsGA p.R283E Missense 7/48 - 1
8-133894816-GG-AT c.848_849delinsAT p.R283H Missense 7/48 - 1
8-133894816-G-T c.848G>T p.R283L Missense 7/48 - 1
8-133894816-G-A c.848G>A p.R283Q Missense 7/48 - 1
8-133894815-C-CG c.849dup p.F284Vfs*19 Frameshift 7/48 - 1
8-133894819-T-TC c.853dup p.L285Pfs*18 Frameshift 7/48 - 1
8-133894821-CT-GA c.853_854delinsGA p.L285D Missense 7/48 - 3
8-133894821-CTC-ATG c.853_855delinsATG p.L285M Missense 7/48 - 1
8-133894821-C-T c.853C>T p.L285F Missense 7/48 - 1
8-133894821-CT-TA c.853_854delinsTA p.L285Y Missense 7/48 - 1
8-133894821-C-G c.853C>G p.L285V Missense 7/48 - 1
8-133894822-T-G c.854T>G p.L285R Missense 7/48 - 1
8-133894822-T-TC c.855dup p.A286Rfs*17 Frameshift 7/48 - 1
8-133894825-C-T c.857C>T p.A286V Missense 7/48 - 1
8-133894827-G-A c.859G>A p.V287I Missense 7/48 - 1
8-133894827-GTT-ATG c.859_861delinsATG p.V287M Missense 7/48 - 1
8-133894828-T-C c.860T>C p.V287A Missense 7/48 - 1
8-133894828-TT-AG c.860_861delinsAG p.V287E Missense 7/48 - 1
8-133894829-T-A c.861T>A p.V287= Synonymous 7/48 - 1
8-133894829-T-C c.861T>C p.V287= Synonymous 7/48 - 1
8-133894829-T-G c.861T>G p.V287= Synonymous 7/48 - 1
8-133894833-TCA-AAC c.865_867delinsAAC p.S289N Missense 7/48 - 1
8-133894833-T-A c.865T>A p.S289T Missense 7/48 - 1
8-133894833-T-G c.865T>G p.S289A Missense 7/48 - 2
8-133894833-AT-A c.865del p.S289Qfs*113 Frameshift 7/48 - 1
8-133894836-GTC-ATG c.868_870delinsATG p.V290M Missense 7/48 - 3
8-133894838-TCA-T c.870_871del p.I291Lfs*11 Frameshift 7/48 - 1
8-133894839-AT-GC c.871_872delinsGC p.I291A Missense 7/48 - 1
8-133894839-A-AT c.872dup p.S292Lfs*11 Frameshift 7/48 - 1
8-133894840-T-TC c.873dup p.S292Lfs*11 Frameshift 7/48 - 1
8-133894842-TC-GG c.874_875delinsGG p.S292G Missense 7/48 - 1
8-133894842-TC-GA c.874_875inv p.S292D Missense 7/48 - 1
8-133894842-T-TC c.875dup p.G293Wfs*10 Frameshift 7/48 - 1
8-133894845-G-C c.877G>C p.G293R Missense 7/48 - 1
8-133894844-T-TG c.878dup p.R294Qfs*9 Frameshift 7/48 - 1
8-133894846-G-C c.878G>C p.G293A Missense 7/48 - 1
8-133894846-G-GC c.879dup p.R294Qfs*9 Frameshift 7/48 - 1
8-133894848-A-T c.880A>T p.R294* Nonsense 7/48 - 3
8-133894848-AG-GC c.880_881delinsGC p.R294A Missense 7/48 - 1
8-133894849-G-A c.881G>A p.R294K Missense 7/48 - 1
8-133894849-G-T c.881G>T p.R294I Missense 7/48 - 1
8-133894852-T-C c.884T>C p.F295S Missense 7/48 - 1
8-133894854-C-T c.886C>T p.R296* Nonsense 7/48 - 12
8-133894854-CGA-TGT c.886_888delinsTGT p.R296C Missense 7/48 - 1
8-133894855-G-A c.887G>A p.R296Q Missense 7/48 - 2
8-133894857-T-A c.889T>A p.C297S Missense 7/48 - 2
8-133895059-G-C c.890G>C p.C297S Missense 8/48 - 2
8-133894902-A-G c.889+45A>G - IntronicSNV - 7/47 1
8-133895059-G-A c.890G>A p.C297Y Missense 8/48 - 2
8-133895062-C-T c.893C>T p.P298L Missense 8/48 - 1
8-133895059-G-GC c.894dup p.T299Hfs*4 Frameshift 8/48 - 1
8-133895064-A-G c.895A>G p.T299A Missense 8/48 - 2
8-133895065-AC-A c.896del p.T299Kfs*103 Frameshift 8/48 - 1
8-133895067-A-C c.898A>C p.K300Q Missense 8/48 - 1
8-133895068-A-G c.899A>G p.K300R Missense 8/48 - 1
8-133895070-T-G c.901T>G p.C301G Missense 8/48 - 1
8-133895070-TG-AC c.901_902delinsAC p.C301T Missense 8/48 - 3
8-133895070-T-TG c.902dup p.C301Wfs*2 Frameshift 8/48 - 1
8-133895074-A-C c.905A>C p.E302A Missense 8/48 - 2
8-133895076-GTG-TTT c.907_909delinsTTT p.V303F Missense 8/48 - 1
8-133895077-T-C c.908T>C p.V303A Missense 8/48 - 1
8-133895080-A-T c.911A>T p.E304V Missense 8/48 - 1
8-133895084-G-C c.915G>C p.R305= Synonymous 8/48 - 1
8-133895087-TTA-T c.918_919del p.T307Sfs*53 Frameshift 8/48 - 1
8-133895087-T-C c.918T>C p.F306= Synonymous 8/48 - 1
8-133895088-A-G c.919A>G p.T307A Missense 8/48 - 4
8-133895088-A-T c.919A>T p.T307S Missense 8/48 - 1
8-133895088-A-AC c.920dup p.A308Sfs*53 Frameshift 8/48 - 1
8-133895089-AC-A c.920del p.T307Kfs*95 Frameshift 8/48 - 1
8-133895091-G-A c.922G>A p.A308T Missense 8/48 - 1
8-133895091-G-GC c.923dup p.T309Nfs*52 Frameshift 8/48 - 1
8-133895092-C-T c.923C>T p.A308V Missense 8/48 - 1
8-133895092-C-G c.923C>G p.A308G Missense 8/48 - 1
8-133895093-A-C c.924A>C p.A308= Synonymous 8/48 - 1
8-133895093-A-G c.924A>G p.A308= Synonymous 8/48 - 1
8-133895093-A-T c.924A>T p.A308= Synonymous 8/48 - 1
8-133895094-AC-GG c.925_926delinsGG p.T309G Missense 8/48 - 22
8-133895092-C-CA c.925dup p.T309Nfs*52 Frameshift 8/48 - 1
8-133895094-A-G c.925A>G p.T309A Missense 8/48 - 1
8-133895095-CC-AG c.926_927delinsAG p.T309K Missense 8/48 - 2
8-133895095-C-T c.926C>T p.T309I Missense 8/48 - 1
8-133895094-A-AC c.927dup p.S310Qfs*51 Frameshift 8/48 - 1
8-133895097-A-T c.928A>T p.S310C Missense 8/48 - 1
8-133895097-A-AG c.929dup p.S310Rfs*51 Frameshift 8/48 - 1
8-133895098-G-GC c.930dup p.F311Lfs*50 Frameshift 8/48 - 1
8-133895100-CTTT-C c.931_933del p.F311del InFrameDeletion 8/48 - 1
8-133895104-G-C c.935G>C p.G312A Missense 8/48 - 1
8-133895105-T-TC c.937dup p.H313Pfs*48 Frameshift 8/48 - 1
8-133895109-C-T c.940C>T p.P314S Missense 8/48 - 1
8-133895110-C-T c.941C>T p.P314L Missense 8/48 - 10
8-133895107-A-AC c.942dup p.Y315Lfs*46 Frameshift 8/48 - 1
8-133895115-GT-G c.948del p.P317Qfs*85 Frameshift 8/48 - 2
8-133895118-C-A c.949C>A p.P317T Missense 8/48 - 1
8-133895117-T-TC c.950dup p.S318Kfs*43 Frameshift 8/48 - 1
8-133895119-CCA-C c.950_951del p.P317Qfs*43 Frameshift 8/48 - 1
8-133895121-AG-GC c.952_953delinsGC p.S318A Missense 8/48 - 3
8-133895119-CA-C c.952del p.S318Afs*84 Frameshift 8/48 - 1
8-133895122-AG-A c.953del p.S318Tfs*84 Frameshift 8/48 - 1
8-133895122-G-C c.953G>C p.S318T Missense 8/48 - 1
8-133895122-G-GC c.954dup p.C319Lfs*42 Frameshift 8/48 - 2
8-133895123-C-T c.954C>T p.S318= Synonymous 8/48 - 1
8-133895124-T-A c.955T>A p.C319S Missense 8/48 - 1
8-133895125-G-C c.956G>C p.C319S Missense 8/48 - 1
8-133895124-T-TG c.956dup p.C319Wfs*42 Frameshift 8/48 - 1
8-133895125-G-T c.956G>T p.C319F Missense 8/48 - 1
8-133895127-C-T c.958C>T p.R320C Missense 8/48 - 1
8-133895127-CGC-TGA c.958_960delinsTGA p.R320* Nonsense 8/48 - 1
8-133895127-C-CG c.959dup p.R321Pfs*40 Frameshift 8/48 - 1
8-133895128-GC-AA c.959_960delinsAA p.R320Q Missense 8/48 - 1
8-133895126-CCG-C c.959_960del p.R320Pfs*40 Frameshift 8/48 - 1
8-133895128-G-GC c.961dup p.R321Pfs*40 Frameshift 8/48 - 1
8-133895130-CG-GC c.961_962delinsGC p.R321A Missense 8/48 - 1
8-133895130-C-T c.961C>T p.R321* Nonsense 8/48 - 1
8-133895133-AAAT-A c.964_966del p.N322del InFrameDeletion 8/48 - 1
8-133895135-T-C c.966T>C p.N322= Synonymous 8/48 - 1
8-133895136-G-C c.967G>C p.G323R Missense 8/48 - 1
8-133895137-GC-AG c.968_969delinsAG p.G323E Missense 8/48 - 1
8-133895137-G-C c.968G>C p.G323A Missense 8/48 - 1
8-133895137-G-T c.968G>T p.G323V Missense 8/48 - 1
8-133895137-G-GC c.969dup p.D324Rfs*37 Frameshift 8/48 - 1
8-133895138-C-CA c.969_970insA p.D324Rfs*37 Frameshift 8/48 - 1
8-133895139-G-A c.970G>A p.D324N Missense 8/48 - 2
8-133895140-A-AC c.972dup p.Y325Lfs*36 Frameshift 8/48 - 1
8-133895141-C-G c.972C>G p.D324E Missense 8/48 - 2
8-133895141-C-A c.972C>A p.D324E Missense 8/48 - 2
8-133895142-T-A c.973T>A p.Y325N Missense 8/48 - 2
8-133895143-A-G c.974A>G p.Y325C Missense 8/48 - 1
8-133895143-A-T c.974A>T p.Y325F Missense 8/48 - 1
8-133895144-T-A c.975T>A p.Y325* Nonsense 8/48 - 1
8-133895144-T-G c.975T>G p.Y325* Nonsense 8/48 - 1
8-133895145-C-T c.976C>T p.Q326* Nonsense 8/48 - 2
8-133895148-GC-CA c.979_980delinsCA p.A327Q Missense 8/48 - 1
8-133895151-GTG-TTT c.982_984delinsTTT p.V328F Missense 8/48 - 1
8-133895152-T-G c.983T>G p.V328G Missense 8/48 - 1
8-133895153-G-GC c.985dup p.Q329Pfs*32 Frameshift 8/48 - 1
8-133895155-A-AG c.987dup p.C330Vfs*31 Frameshift 8/48 - 1
8-133895158-G-GC c.991dup p.Q331Pfs*30 Frameshift 8/48 - 1
8-133895160-C-A c.991C>A p.Q331K Missense 8/48 - 1
8-133895160-CAG-TGT c.991_993delinsTGT p.Q331C Missense 8/48 - 1
8-133895162-G-C c.993G>C p.Q331H Missense 8/48 - 1
8-133895163-A-T c.994A>T p.T332S Missense 8/48 - 2
8-133895163-A-AC c.995dup p.E333Gfs*28 Frameshift 8/48 - 1
8-133895164-CG-AC c.995_996delinsAC p.T332N Missense 8/48 - 1
8-133895166-G-A c.997G>A p.E333K Missense 8/48 - 1
8-133895167-A-T c.998A>T p.E333V Missense 8/48 - 1
8-133895167-A-G c.998A>G p.E333G Missense 8/48 - 1
8-133895167-A-C c.998A>C p.E333A Missense 8/48 - 1
8-133895170-G-A c.1001G>A p.G334E Missense 8/48 - 1
8-133895168-A-AG c.1002dup p.P335Afs*26 Frameshift 8/48 - 1
8-133895168-AG-A c.1002del p.C336Afs*66 Frameshift 8/48 - 1
8-133895171-G-A c.1002G>A p.G334= Synonymous 8/48 - 1
8-133895173-C-T c.1004C>T p.P335L Missense 8/48 - 1
8-133895171-GC-G c.1005del p.C336Afs*66 Frameshift 8/48 - 1
8-133895171-G-GC c.1005dup p.C336Lfs*25 Frameshift 8/48 - 1
8-133895175-TG-GT c.1006_1007delinsGT p.C336V Missense 8/48 - 1
8-133895176-G-GC c.1008dup p.W337Lfs*24 Frameshift 8/48 - 1
8-133895177-GC-G c.1008del p.W337Gfs*65 Frameshift 8/48 - 2
8-133895178-TG-GC c.1009_1010delinsGC p.W337A Missense 8/48 - 1
8-133895179-G-A c.1010G>A p.W337* Nonsense 8/48 - 1
8-133895181-TG-GC c.1012_1013delinsGC p.C338A Missense 8/48 - 2
8-133895181-T-A c.1012T>A p.C338S Missense 8/48 - 1
8-133895184-G-T c.1015G>T p.V339L Missense 8/48 - 1
8-133895187-G-A c.1018G>A p.D340N Missense 8/48 - 1
8-133895187-GAC-TAA c.1018_1020delinsTAA p.D340* Nonsense 8/48 - 1
8-133895188-A-C c.1019A>C p.D340A Missense 8/48 - 1
8-133895188-A-AC c.1020dup p.A341Rfs*20 Frameshift 8/48 - 1
8-133895191-C-A c.1022C>A p.A341D Missense 8/48 - 1
8-133895191-C-G c.1022C>G p.A341G Missense 8/48 - 1
8-133895191-C-T c.1022C>T p.A341V Missense 8/48 - 1
8-133895192-C-T c.1023C>T p.A341= Synonymous 8/48 - 1
8-133895190-G-GC c.1024dup p.Q342Pfs*19 Frameshift 8/48 - 1
8-133895193-C-T c.1024C>T p.Q342* Nonsense 8/48 - 1
8-133895197-G-T c.1028G>T p.G343V Missense 8/48 - 1
8-133895194-A-AG c.1029dup p.K344Efs*17 Frameshift 8/48 - 1
8-133895202-GA-AG c.1033_1034delinsAG p.E345R Missense 8/48 - 1
8-133895203-A-T c.1034A>T p.E345V Missense 8/48 - 1
8-133895205-A-G c.1036A>G p.M346V Missense 8/48 - 1
8-133895208-GC-G c.1039del p.H347Mfs*55 Frameshift 8/48 - 1
8-133895208-C-T c.1039C>T p.H347Y Missense 8/48 - 2
8-133895210-TG-T c.1043del p.G348Efs*54 Frameshift 8/48 - 1
8-133895212-G-C c.1043G>C p.G348A Missense 8/48 - 1
8-133895215-C-T c.1046C>T p.T349I Missense 8/48 - 1
8-133895214-A-AC c.1048dup p.R350Pfs*11 Frameshift 8/48 - 1
8-133895217-CG-TA c.1048_1049delinsTA p.R350* Nonsense 8/48 - 1
8-133895218-GG-AT c.1049_1050delinsAT p.R350H Missense 8/48 - 1
8-133895217-CG-C c.1050del p.Q351Sfs*51 Frameshift 8/48 - 1
8-133895220-C-T c.1051C>T p.Q351* Nonsense 8/48 - 1
8-133895220-GC-G c.1051del p.Q351Sfs*51 Frameshift 8/48 - 1
8-133895221-A-G c.1052A>G p.Q351R Missense 8/48 - 2
8-133895221-A-AG c.1053dup p.Q352Afs*9 Frameshift 8/48 - 1
8-133895223-C-T c.1054C>T p.Q352* Nonsense 8/48 - 2
8-133895228-G-A c.1059G>A p.G353= Synonymous 8/48 - 1
8-133895225-AG-A c.1060del p.E354Sfs*48 Frameshift 8/48 - 2
8-133895229-G-C c.1060G>C p.E354Q Missense 8/48 - 1
8-133895229-GAG-AAC c.1060_1062delinsAAC p.E354N Missense 8/48 - 1
8-133895230-A-C c.1061A>C p.E354A Missense 8/48 - 1
8-133895231-G-A c.1062G>A p.E354= Synonymous 8/48 - 1
8-133895231-G-GC c.1064dup p.P356Afs*5 Frameshift 8/48 - 1
8-133895232-C-CCA c.1064_1065insAC p.P356Rfs*47 Frameshift 8/48 - 1
8-133895233-C-T c.1064C>T p.P355L Missense 8/48 - 1
8-133895233-C-CG c.1065dup p.P356Afs*5 Frameshift 8/48 - 1
8-133895236-C-T c.1067C>T p.P356L Missense 8/48 - 1
8-133895238-TC-AA c.1069_1070delinsAA p.S357N Missense 8/48 - 1
8-133895238-T-TC c.1070dup p.C358Lfs*3 Frameshift 8/48 - 1
8-133895239-C-T c.1070C>T p.S357F Missense 8/48 - 2
8-133895241-TG-GC c.1072_1073delinsGC p.C358A Missense 8/48 - 2
8-133895241-T-C c.1072T>C p.C358R Missense 8/48 - 1
8-133895242-G-GC c.1073_1074insC p.A359Cfs*2 SpliceDonorInsertion 8/48 - 1
8-133895242-G-GCC c.1073_1074insCC p.A359Lfs*44 SpliceDonorInsertion 8/48 - 1
8-133895243-GT-G c.1074del p.C358Wfs*44 Frameshift 8/48 - 1
8-133895244-G-T c.1075G>T p.A359S Missense 8/48 - 1
8-133898692-G-GC c.1076dup p.E360* SpliceAcceptorInsertion 9/48 - 1
8-133898695-TG-T c.1078del p.E360Kfs*42 Frameshift 9/48 - 1
8-133898695-G-T c.1078G>T p.E360* Nonsense 9/48 - 1
8-133898699-G-C c.1082G>C p.G361A Missense 9/48 - 1
8-133898699-GC-G c.1084del p.Q362Nfs*40 Frameshift 9/48 - 1
8-133898699-G-GC c.1084dup p.Q362Pfs*123 Frameshift 9/48 - 1
8-133898701-C-T c.1084C>T p.Q362* Nonsense 9/48 - 1
8-133898702-A-G c.1085A>G p.Q362R Missense 9/48 - 1
8-133898701-CA-C c.1086del p.Q362Hfs*40 Frameshift 9/48 - 1
8-133898704-TC-AA c.1087_1088delinsAA p.S363N Missense 9/48 - 1
8-133898704-T-G c.1087T>G p.S363A Missense 9/48 - 1
8-133898705-CT-C c.1090del p.C364Vfs*38 Frameshift 9/48 - 1
8-133898707-T-A c.1090T>A p.C364S Missense 9/48 - 1
8-133898708-G-C c.1091G>C p.C364S Missense 9/48 - 1
8-133898710-G-A c.1093G>A p.A365T Missense 9/48 - 1
8-133898711-C-T c.1094C>T p.A365V Missense 9/48 - 1
8-133898710-G-GC c.1095dup p.S366Lfs*119 Frameshift 9/48 - 1
8-133898713-T-G c.1096T>G p.S366A Missense 9/48 - 3
8-133898713-TC-GT c.1096_1097delinsGT p.S366V Missense 9/48 - 1
8-133898713-T-TC c.1098dup p.E367Rfs*118 Frameshift 9/48 - 2
8-133898716-G-A c.1099G>A p.E367K Missense 9/48 - 2
8-133898715-CGAAAGGCAGCAGGCCTTGTCCAGACTCTACTTTGGGACCTCAGGCTACTTCA-C c.1100_1151del p.E367Afs*18 Frameshift 9/48 - 1
8-133898717-AAAGG-T c.1100_1104delinsT p.E367Vfs*34 Frameshift 9/48 - 1
8-133898718-A-AT c.1101_1102insT p.R368* Nonsense 9/48 - 1
8-133898719-AG-CT c.1102_1103inv p.R368L Missense 9/48 - 1
8-133898719-AGG-TGT c.1102_1104delinsTGT p.R368C Missense 9/48 - 1
8-133898719-AGG-CAT c.1102_1104delinsCAT p.R368H Missense 9/48 - 1
8-133898719-AG-GA c.1102_1103delinsGA p.R368E Missense 9/48 - 1
8-133898720-AGGCAGCAGGCCTTGTCCAGACTCTACTTTGGGACCTCAGGCTACTT-A c.1103_1148del p.R368Tfs*19 Frameshift 9/48 - 1
8-133898720-G-C c.1103G>C p.R368T Missense 9/48 - 1
8-133898719-A-AG c.1104dup p.Q369Afs*116 Frameshift 9/48 - 1
8-133898722-C-T c.1105C>T p.Q369* Nonsense 9/48 - 1
8-133898722-C-CG c.1105_1106insG p.Q369Rfs*116 Frameshift 9/48 - 1
8-133898723-A-C c.1106A>C p.Q369P Missense 9/48 - 1
8-133898725-C-T c.1108C>T p.Q370* Nonsense 9/48 - 1
8-133898721-GCAGCAGGCCTTGTCCAGACTCTACTTTGGGACCT-G c.1108_1141del p.Q370Afs*21 Frameshift 9/48 - 1
8-133898729-C-T c.1112C>T p.A371V Missense 9/48 - 3
8-133898728-G-GC c.1113dup p.S373Vfs*112 Frameshift 9/48 - 1
8-133898724-GCAGGCCTTGTCCAGACTCTACTTTGGGACCT-G c.1113_1143del p.L372Tfs*20 Frameshift 9/48 - 1
8-133898733-G-A c.1116G>A p.L372= Synonymous 9/48 - 1
8-133898733-G-T c.1116G>T p.L372F Missense 9/48 - 1
8-133898733-G-C c.1116G>C p.L372F Missense 9/48 - 1
8-133898734-T-C c.1117T>C p.S373P Missense 9/48 - 15
8-133898734-T-TC c.1119dup p.R374Qfs*111 Frameshift 9/48 - 1
8-133898737-A-G c.1120A>G p.R374G Missense 9/48 - 1
8-133898737-AGA-CAT c.1120_1122delinsCAT p.R374H Missense 9/48 - 1
8-133898737-AG-CA c.1120_1121delinsCA p.R374Q Missense 9/48 - 1
8-133898737-AG-GC c.1120_1121delinsGC p.R374A Missense 9/48 - 2
8-133898738-G-A c.1121G>A p.R374K Missense 9/48 - 1
8-133898738-G-C c.1121G>C p.R374T Missense 9/48 - 1
8-133898740-C-T c.1123C>T p.L375F Missense 9/48 - 3
8-133898741-T-TC c.1125dup p.Y376Lfs*109 Frameshift 9/48 - 1
8-133898743-TA-GC c.1126_1127delinsGC p.Y376A Missense 9/48 - 1
8-133898746-T-C c.1129T>C p.F377L Missense 9/48 - 1
8-133898746-T-G c.1129T>G p.F377V Missense 9/48 - 1
8-133898749-GGG-AGC c.1132_1134delinsAGC p.G378S Missense 9/48 - 1
8-133898749-GGGACCTCAGGCTACTTCAGCCA-TGTC c.1132_1154delinsTGTC p.G378Cfs*18 Frameshift 9/48 - 1
8-133898750-G-C c.1133G>C p.G378A Missense 9/48 - 1
8-133898748-T-TG c.1134dup p.T379Dfs*106 Frameshift 9/48 - 2
8-133898753-C-T c.1136C>T p.T379I Missense 9/48 - 1
8-133898753-C-G c.1136C>G p.T379S Missense 9/48 - 1
8-133898752-A-T c.1135A>T p.T379S Missense 9/48 - 1
8-133898753-C-A c.1136C>A p.T379N Missense 9/48 - 1
8-133898752-A-AC c.1137dup p.S380Lfs*105 Frameshift 9/48 - 1
8-133898758-G-T c.1141G>T p.G381C Missense 9/48 - 1
8-133898759-G-A c.1142G>A p.G381D Missense 9/48 - 2
8-133898757-A-AG c.1142dup p.Y382Lfs*103 Frameshift 9/48 - 1
8-133898759-G-T c.1142G>T p.G381V Missense 9/48 - 1
8-133898760-GC-G c.1143del p.Y382Tfs*20 Frameshift 9/48 - 2
8-133898762-A-AC c.1146dup p.F383Lfs*102 Frameshift 9/48 - 1
8-133898765-T-G c.1148T>G p.F383C Missense 9/48 - 1
8-133898768-G-T c.1151G>T p.S384I Missense 9/48 - 1
8-133898770-C-CG c.1153_1154insG p.Q385Rfs*100 Frameshift 9/48 - 1
8-133898768-G-GC c.1153dup p.Q385Pfs*100 Frameshift 9/48 - 1
8-133898770-C-T c.1153C>T p.Q385* Nonsense 9/48 - 2
8-133898770-C-G c.1153C>G p.Q385E Missense 9/48 - 1
8-133898771-A-ATTGTC c.1154_1155insTTGTC p.Q385Hfs*19 Frameshift 9/48 - 1
8-133898772-AG-A c.1155del p.Q385Hfs*17 Frameshift 9/48 - 1
8-133898772-G-A c.1155G>A p.Q385= Synonymous 9/48 - 1
8-133898773-CA-AC c.1156_1157delinsAC p.H386T Missense 9/48 - 1
8-133898774-A-G c.1157A>G p.H386R Missense 9/48 - 1
8-133898776-G-T c.1159G>T p.D387Y Missense 9/48 - 1
8-133898776-G-A c.1159G>A p.D387N Missense 9/48 - 1
8-133898776-GA-AG c.1159_1160delinsAG p.D387S Missense 9/48 - 1
8-133898776-GA-AC c.1159_1160delinsAC p.D387T Missense 9/48 - 1
8-133898777-A-C c.1160A>C p.D387A Missense 9/48 - 2
8-133898777-A-T c.1160A>T p.D387V Missense 9/48 - 1
8-133898777-AC-A c.1162del p.L388Cfs*14 Frameshift 9/48 - 1
8-133898777-A-AC c.1162dup p.L388Pfs*97 Frameshift 9/48 - 1
8-133898779-CT-GC c.1162_1163delinsGC p.L388A Missense 9/48 - 1
8-133898780-T-G c.1163T>G p.L388R Missense 9/48 - 1
8-133898782-T-C c.1165T>C p.F389L Missense 9/48 - 1
8-133898784-C-A c.1167C>A p.F389L Missense 9/48 - 1
8-133898784-C-G c.1167C>G p.F389L Missense 9/48 - 1
8-133898783-T-TC c.1167dup p.S390Lfs*95 Frameshift 9/48 - 1
8-133898785-T-C c.1168T>C p.S390P Missense 9/48 - 1
8-133898788-TC-CT c.1171_1172delinsCT p.S391L Missense 9/48 - 1
8-133898791-C-T c.1174C>T p.P392S Missense 9/48 - 2
8-133898791-C-G c.1174C>G p.P392A Missense 9/48 - 1
8-133898788-T-TC c.1175dup p.E393Rfs*92 Frameshift 9/48 - 1
8-133898794-G-A c.1177G>A p.E393K Missense 9/48 - 1
8-133898797-A-T c.1180A>T p.K394* Nonsense 9/48 - 1
8-133898797-A-AG c.1180_1181insG p.K394Rfs*91 Frameshift 9/48 - 1
8-133898800-AGA-TGG c.1183_1185delinsTGG p.R395W Missense 9/48 - 1
8-133898800-A-AG c.1184dup p.W396Mfs*89 Frameshift 9/48 - 1
8-133898802-A-C c.1185A>C p.R395S Missense 9/48 - 1
8-133898802-A-T c.1185A>T p.R395S Missense 9/48 - 1
8-133898807-C-T c.1190C>T p.A397V Missense 9/48 - 1
8-133898809-TC-GA c.1192_1193inv p.S398D Missense 9/48 - 1
8-133898809-T-C c.1192T>C p.S398P Missense 9/48 - 1
8-133898810-C-T c.1193C>T p.S398F Missense 9/48 - 1
8-133898813-C-A c.1196C>A p.P399Q Missense 9/48 - 3
8-133898813-C-CT c.1196_1197insT p.R400Kfs*85 Frameshift 9/48 - 1
8-133898815-A-G c.1198A>G p.R400G Missense 9/48 - 1
8-133898815-AAGAGTAGCCAGATTTGCCACATC-A c.1198_1220del p.R400Lfs*77 Frameshift 9/48 - 1
8-133898815-A-AG c.1199dup p.V401Sfs*84 Frameshift 9/48 - 1
8-133898818-AG-A c.1201del p.V401* Frameshift 9/48 - 1
8-133898821-G-GC c.1206dup p.R403Qfs*82 Frameshift 9/48 - 1
8-133898824-AG-CA c.1207_1208delinsCA p.R403Q Missense 9/48 - 12
8-133898824-AG-GC c.1207_1208delinsGC p.R403A Missense 9/48 - 2
8-133898824-AG-GA c.1207_1208delinsGA p.R403E Missense 9/48 - 1
8-133898825-G-T c.1208G>T p.R403I Missense 9/48 - 1
8-133898826-A-C c.1209A>C p.R403S Missense 9/48 - 1
8-133898826-A-T c.1209A>T p.R403S Missense 9/48 - 1
8-133898829-T-G c.1212T>G p.F404L Missense 9/48 - 1
8-133898836-T-G c.1219T>G p.S407A Missense 9/48 - 2
8-133898836-TC-GA c.1219_1220inv p.S407D Missense 9/48 - 1
8-133898837-C-T c.1220C>T p.S407F Missense 9/48 - 1
8-133898836-T-TC c.1221dup p.C408Lfs*77 Frameshift 9/48 - 1
8-133898839-T-C c.1222T>C p.C408R Missense 9/48 - 1
8-133898839-T-G c.1222T>G p.C408G Missense 9/48 - 1
8-133898842-C-T c.1225C>T p.P409S Missense 9/48 - 2
8-133898843-C-T c.1226C>T p.P409L Missense 9/48 - 1
8-133898846-C-T c.1229C>T p.P410L Missense 9/48 - 1
8-133898846-C-A c.1229C>A p.P410H Missense 9/48 - 1
8-133898844-A-AC c.1230dup p.T411Hfs*74 Frameshift 9/48 - 1
8-133898848-A-G c.1231A>G p.T411A Missense 9/48 - 1
8-133898849-C-G c.1232C>G p.T411R Missense 9/48 - 1
8-133898849-C-CG c.1233dup p.I412Dfs*73 Frameshift 9/48 - 1
8-133898850-G-GC c.1233_1234insC p.I412Hfs*73 Frameshift 9/48 - 1
8-133898851-A-G c.1234A>G p.I412V Missense 9/48 - 1
8-133898852-AT-A c.1235del p.I412Tfs*67 Frameshift 9/48 - 1
8-133898853-C-T c.1236C>T p.I412= Synonymous 9/48 - 1
8-133898854-CAAGGAGCTCTTTGTGGACTCTGGGCTTCTCCGCCCAATGGTGGAGGGACAGAGCCAACA-C c.1237_1295del p.K413Vfs*52 InFrameDeletion 9/48 - 1
8-133898854-A-ATTGGGAGGCCGAGGCG c.1237_1238insTTGGGAGGCCGAGGCG p.K413Ifs*77 Frameshift 9/48 - 1
8-133898854-AA-GC c.1237_1238delinsGC p.K413A Missense 9/48 - 1
8-133898857-G-C c.1240G>C p.E414Q Missense 9/48 - 1
8-133898859-G-GC c.1243dup p.L415Pfs*70 Frameshift 9/48 - 1
8-133898859-GCT-G c.1245_1246del p.F416Cfs*68 Frameshift 9/48 - 1
8-133898865-T-A c.1248T>A p.F416L Missense 9/48 - 1
8-133898865-T-G c.1248T>G p.F416L Missense 9/48 - 1
8-133898863-T-C c.1246T>C p.F416L Missense 9/48 - 1
8-133898865-T-TG c.1249dup p.V417Gfs*68 Frameshift 9/48 - 1
8-133898864-TTG-T c.1250_1251del p.V417Gfs*67 Frameshift 9/48 - 1
8-133898867-T-C c.1250T>C p.V417A Missense 9/48 - 1
8-133898867-T-TG c.1252dup p.D418Gfs*67 Frameshift 9/48 - 1
8-133898869-G-A c.1252G>A p.D418N Missense 9/48 - 1
8-133898870-A-AC c.1254dup p.S419Lfs*66 Frameshift 9/48 - 1
8-133898872-T-C c.1255T>C p.S419P Missense 9/48 - 1
8-133898872-T-G c.1255T>G p.S419A Missense 9/48 - 1
8-133898872-T-TC c.1256dup p.G420Wfs*65 Frameshift 9/48 - 1
8-133898874-T-A c.1257T>A p.S419= Synonymous 9/48 - 1
8-133898874-T-TG c.1260dup p.L421Afs*64 Frameshift 9/48 - 1
8-133898878-C-G c.1261C>G p.L421V Missense 9/48 - 1
8-133898880-T-TTG c.1263_1264insTG p.L422Cfs*58 Frameshift 9/48 - 2
8-133898881-CT-GC c.1264_1265delinsGC p.L422A Missense 9/48 - 1
8-133898881-CT-GG c.1264_1265delinsGG p.L422G Missense 9/48 - 1
8-133898882-CT-C c.1265del p.L422Pfs*57 Frameshift 9/48 - 1
8-133898882-T-TC c.1267dup p.R423Pfs*62 Frameshift 9/48 - 1
8-133898884-C-T c.1267C>T p.R423C Missense 9/48 - 3
8-133898884-CG-GC c.1267_1268delinsGC p.R423A Missense 9/48 - 1
8-133898885-G-A c.1268G>A p.R423H Missense 9/48 - 1
8-133898886-C-A c.1269C>A p.R423= Synonymous 9/48 - 1
8-133898886-C-G c.1269C>G p.R423= Synonymous 9/48 - 1
8-133898886-C-T c.1269C>T p.R423= Synonymous 9/48 - 1
8-133898885-G-GC c.1271dup p.M425Nfs*60 Frameshift 9/48 - 1
8-133898888-C-A c.1271C>A p.P424Q Missense 9/48 - 1
8-133898888-C-T c.1271C>T p.P424L Missense 9/48 - 1
8-133898890-AATGGTG-A c.1273_1278del p.M425_V426del InFrameDeletion 9/48 - 1
8-133898894-T-TG c.1279dup p.E427Gfs*58 Frameshift 9/48 - 1
8-133898898-G-A c.1281G>A p.E427= Synonymous 9/48 - 1
8-133898897-AG-A c.1283del p.G428Dfs*51 Frameshift 9/48 - 2
8-133898900-G-C c.1283G>C p.G428A Missense 9/48 - 3
8-133898901-A-AC c.1285dup p.Q429Pfs*56 Frameshift 9/48 - 1
8-133898902-C-T c.1285C>T p.Q429* Nonsense 9/48 - 1
8-133898905-A-AG c.1289dup p.S430Rfs*55 Frameshift 9/48 - 1
8-133898906-G-A c.1289G>A p.S430N Missense 9/48 - 1
8-133898906-G-GC c.1291dup p.Q431Pfs*54 Frameshift 9/48 - 1
8-133898910-A-T c.1293A>T p.Q431H Missense 9/48 - 1
8-133898910-A-C c.1293A>C p.Q431H Missense 9/48 - 1
8-133898909-A-AATCAGTTCACTACAAACT c.1293_1294insTCAGTTCACTACAAACTA p.Q431_Q432insSVHYKL InFrameInsertion 9/48 - 1
8-133898912-A-G c.1295A>G p.Q432R Missense 9/48 - 1
8-133898914-TT-GC c.1297_1298delinsGC p.F433A Missense 9/48 - 1
8-133898917-T-C c.1300T>C p.S434P Missense 9/48 - 1
8-133898917-T-G c.1300T>G p.S434A Missense 9/48 - 1
8-133898921-T-A c.1304T>A p.V435D Missense 9/48 - 1
8-133898923-TCA-AAC c.1306_1308delinsAAC p.S436N Missense 9/48 - 1
8-133898924-C-T c.1307C>T p.S436L Missense 9/48 - 1
8-133898926-GA-AG c.1309_1310delinsAG p.E437R Missense 9/48 - 1
8-133898926-G-GA c.1313dup p.N438Kfs*47 Frameshift 9/48 - 1
8-133898931-T-TC c.1315dup p.L439Pfs*46 Frameshift 9/48 - 1
8-133898932-CT-GC c.1315_1316delinsGC p.L439A Missense 9/48 - 1
8-133898932-C-T c.1315C>T p.L439F Missense 9/48 - 1
8-133898936-T-C c.1319T>C p.L440P Missense 9/48 - 1
8-133898938-A-G c.1321A>G p.K441E Missense 9/48 - 1
8-133898944-G-T c.1327G>T p.A443S Missense 9/48 - 2
8-133898945-C-G c.1328C>G p.A443G Missense 9/48 - 1
8-133898945-C-T c.1328C>T p.A443V Missense 9/48 - 1
8-133898946-C-CT c.1329_1330insT p.I444Yfs*41 Frameshift 9/48 - 1
8-133898950-C-T c.1333C>T p.R445* Nonsense 9/48 - 2
8-133898954-C-T c.1337C>T p.A446V Missense 9/48 - 1
8-133898954-CA-C c.1339del p.I447Ffs*32 Frameshift 9/48 - 1
8-133898957-T-A c.1340T>A p.I447N Missense 9/48 - 1
8-133898956-AT-A c.1344del p.S450Pfs*29 Frameshift 9/48 - 1
8-133898962-C-G c.1345C>G p.P449A Missense 9/48 - 1
8-133898962-C-A c.1345C>A p.P449T Missense 9/48 - 1
8-133898965-TC-CT c.1348_1349delinsCT p.S450L Missense 9/48 - 1
8-133898965-CT-C c.1348del p.S450Pfs*29 Frameshift 9/48 - 3
8-133898965-T-TC c.1351dup p.R451Pfs*34 Frameshift 9/48 - 1
8-133898968-CGA-TGT c.1351_1353delinsTGT p.R451C Missense 9/48 - 5
8-133898968-C-T c.1351C>T p.R451* Nonsense 9/48 - 1
8-133898969-G-A c.1352G>A p.R451Q Missense 9/48 - 5
8-133898971-G-A c.1354G>A p.G452R Missense 9/48 - 1
8-133898972-G-C c.1355G>C p.G452A Missense 9/48 - 1
8-133898970-AGG-A c.1355_1356del p.G452Afs*32 Frameshift 9/48 - 1
8-133898970-A-AG c.1356dup p.L453Afs*32 Frameshift 9/48 - 1
8-133898974-CT-GC c.1357_1358delinsGC p.L453A Missense 9/48 - 1
8-133898974-GCT-G c.1357_1358del p.L453Gfs*31 Frameshift 9/48 - 1
8-133898975-T-TG c.1360dup p.A454Gfs*31 Frameshift 9/48 - 1
8-133898980-C-A c.1363C>A p.R455S Missense 9/48 - 1
8-133898980-CG-GC c.1363_1364delinsGC p.R455A Missense 9/48 - 2
8-133898980-CGT-TGG c.1363_1365delinsTGG p.R455W Missense 9/48 - 1
8-133898980-C-T c.1363C>T p.R455C Missense 9/48 - 1
8-133898981-G-A c.1364G>A p.R455H Missense 9/48 - 1
8-133898981-G-T c.1364G>T p.R455L Missense 9/48 - 1
8-133898982-T-TC c.1366dup p.L456Pfs*29 Frameshift 9/48 - 1
8-133898983-C-T c.1366C>T p.L456F Missense 9/48 - 2
8-133898986-G-C c.1369G>C p.A457P Missense 9/48 - 1
8-133898987-CC-AG c.1370_1371delinsAG p.A457E Missense 9/48 - 1
8-133898989-C-A c.1372C>A p.L458I Missense 9/48 - 1
8-133898989-C-G c.1372C>G p.L458V Missense 9/48 - 1
8-133898990-T-C c.1373T>C p.L458P Missense 9/48 - 1
8-133898991-TTC-T c.1374_1375del p.Q459Vfs*25 Frameshift 9/48 - 1
8-133898992-C-G c.1375C>G p.Q459E Missense 9/48 - 1
8-133898991-T-TC c.1375dup p.Q459Pfs*26 Frameshift 9/48 - 1
8-133898992-C-T c.1375C>T p.Q459* Nonsense 9/48 - 1
8-133898994-AG-A c.1377del p.Q459Hfs*20 Frameshift 9/48 - 1
8-133898995-TT-GC c.1378_1379delinsGC p.F460A Missense 9/48 - 1
8-133898999-C-T c.1382C>T p.T461I Missense 9/48 - 1
8-133899004-A-G c.1387A>G p.N463D Missense 9/48 - 1
8-133899005-A-G c.1388A>G p.N463S Missense 9/48 - 1
8-133899005-A-T c.1388A>T p.N463I Missense 9/48 - 1
8-133899006-C-CT c.1389_1390insT p.P464Sfs*21 Frameshift 9/48 - 1
8-133899007-C-G c.1390C>G p.P464A Missense 9/48 - 1
8-133899005-AC-A c.1391del p.P464Qfs*15 Frameshift 9/48 - 2
8-133899009-A-AT c.1392_1393insT p.K465* Nonsense 9/48 - 1
8-133899008-CA-C c.1394del p.K465Rfs*14 Frameshift 9/48 - 2
8-133899013-A-AG c.1397dup p.L467Tfs*18 Frameshift 9/48 - 1
8-133899014-G-A c.1397G>A p.R466K Missense 9/48 - 1
8-133899015-GA-G c.1398del p.R466Sfs*13 Frameshift 9/48 - 1
8-133899016-C-T c.1399C>T p.L467F Missense 9/48 - 1
8-133899016-C-CT c.1400dup p.Q468Pfs*17 Frameshift 9/48 - 1
8-133899017-T-C c.1400T>C p.L467P Missense 9/48 - 3
8-133899018-C-T c.1401C>T p.L467= Synonymous 9/48 - 1
8-133899018-C-G c.1401C>G p.L467= Synonymous 9/48 - 1
8-133899018-C-A c.1401C>A p.L467= Synonymous 9/48 - 1
8-133899018-C-CA c.1401_1402insA p.Q468Tfs*17 Frameshift 9/48 - 1
8-133899017-T-TC c.1402dup p.Q468Pfs*17 Frameshift 9/48 - 1
8-133899025-A-G c.1408A>G p.N470D Missense 9/48 - 6
8-133899026-A-G c.1409A>G p.N470S Missense 9/48 - 1
8-133899028-C-T c.1411C>T p.L471F Missense 9/48 - 1
8-133899033-T-G c.1416T>G p.F472L Missense 9/48 - 1
8-133899028-CT-C c.1416del p.F472Lfs*7 Frameshift 9/48 - 1
8-133899034-GG-AT c.1417_1418delinsAT p.G473I Missense 9/48 - 1
8-133899033-T-TG c.1418dup p.G474Rfs*11 Frameshift 9/48 - 1
8-133899035-G-A c.1418G>A p.G473E Missense 9/48 - 1
8-133899035-G-C c.1418G>C p.G473A Missense 9/48 - 2
8-133899033-TGGA-T c.1419_1421del p.G474del InFrameDeletion 9/48 - 1
8-133899038-G-C c.1421G>C p.G474A Missense 9/48 - 1
8-133899039-G-GT c.1422_1423insT p.K475* Nonsense 9/48 - 1
8-133899036-A-AG c.1422dup p.K475Efs*10 Frameshift 9/48 - 1
8-133899040-AA-GC c.1423_1424delinsGC p.K475A Missense 9/48 - 1
8-133899042-A-G c.1425A>G p.K475= Synonymous 9/48 - 1
8-133899043-T-C c.1426T>C p.F476L Missense 9/48 - 1
8-133899045-T-A c.1428T>A p.F476L Missense 9/48 - 1
8-133899049-G-A c.1432G>A p.V478M Missense 9/48 - 2
8-133899049-GT-TG c.1432_1433delinsTG p.V478W Missense 9/48 - 1
8-133899052-AA-GC c.1435_1436delinsGC p.N479A Missense 9/48 - 1
8-133899052-AA-TG c.1435_1436delinsTG p.N479C Missense 9/48 - 1
8-133899051-GA-G c.1436del p.N479Mfs*32 Frameshift 9/48 - 1
8-133899054-T-G c.1437T>G p.N479K Missense 9/48 - 1
8-133899054-T-A c.1437T>A p.N479K Missense 9/48 - 1
8-133899054-T-TG c.1438dup p.V480Gfs*5 Frameshift 9/48 - 1
8-133899059-G-C c.1442G>C p.G481A Missense 9/48 - 1
8-133899059-G-GC c.1444dup p.Q482Pfs*3 Frameshift 9/48 - 1
8-133899063-G-T c.1446G>T p.Q482H Missense 9/48 - 1
8-133899063-G-C c.1446G>C p.Q482H Missense 9/48 - 1
8-133899065-T-C c.1448T>C p.F483S Missense 9/48 - 1
8-133899065-TTTAACTTGTCTGGA-T c.1448_1461del p.F483Cfs*9 Frameshift 9/48 - 1
8-133899063-G-GT c.1449dup p.N484* Nonsense 9/48 - 1
8-133899067-A-G c.1450A>G p.N484D Missense 9/48 - 1
8-133899069-C-G c.1452C>G p.N484K Missense 9/48 - 1
8-133899069-C-A c.1452C>A p.N484K Missense 9/48 - 1
8-133899072-G-T c.1455G>T p.L485F Missense 9/48 - 1
8-133899072-G-C c.1455G>C p.L485F Missense 9/48 - 1
8-133899073-T-G c.1456T>G p.S486A Missense 9/48 - 1
8-133899073-TC-AA c.1456_1457delinsAA p.S486N Missense 9/48 - 1
8-133899074-C-G c.1457C>G p.S486C Missense 9/48 - 1
8-133899075-CTG-C c.1458_1459del p.G487Sfs*9 Frameshift 9/48 - 1
8-133899075-T-TG c.1460dup p.A488Sfs*9 Frameshift 9/48 - 1
8-133899077-G-C c.1460G>C p.G487A Missense 9/48 - 2
8-133899079-G-A c.1462G>A p.A488T Missense 9/48 - 2
8-133899079-G-T c.1462G>T p.A488S Missense 9/48 - 2
8-133899080-C-G c.1463C>G p.A488G Missense 9/48 - 1
8-133899082-C-T c.1465C>T p.L489F Missense 9/48 - 1
8-133899085-G-A c.1468G>A p.G490S Missense 9/48 - 1
8-133899084-TG-T c.1469del p.G490Afs*21 Frameshift 9/48 - 1
8-133899086-G-GC c.1470dup p.T491Hfs*6 Frameshift 9/48 - 1
8-133899088-AC-TA c.1471_1472delinsTA p.T491* Nonsense 9/48 - 1
8-133899088-ACA-TGT c.1471_1473inv p.T491C Missense 9/48 - 1
8-133899088-A-AC c.1472dup p.R492Kfs*5 Frameshift 9/48 - 1
8-133899094-G-A c.1477G>A p.G493S Missense 9/48 - 1
8-133899093-A-AG c.1478dup p.T494Hfs*3 Frameshift 9/48 - 1
8-133899095-G-A c.1478G>A p.G493D Missense 9/48 - 1
8-133899097-A-T c.1480A>T p.T494S Missense 9/48 - 2
8-133899105-C-G c.1488C>G p.N496K Missense 9/48 - 1
8-133899105-C-A c.1488C>A p.N496K Missense 9/48 - 1
8-133899106-T-A c.1489T>A p.F497I Missense 9/48 - 1
8-133899107-T-TC c.1491dup p.S498Qfs*39 Frameshift 9/48 - 1
8-133899109-A-G c.1492A>G p.S498G Missense 9/48 - 1
8-133899109-AG-GC c.1492_1493delinsGC p.S498A Missense 9/48 - 1
8-133899112-C-A c.1495C>A p.Q499K Missense 9/48 - 1
8-133899112-C-G c.1495C>G p.Q499E Missense 9/48 - 1
8-133899113-CAA-C c.1496_1497del p.Q499Lfs*37 Frameshift 9/48 - 1
8-133899115-T-C c.1498T>C p.F500L Missense 9/48 - 1
8-133899114-ATT-A c.1501_1502del p.F501Pfs*35 Frameshift 9/48 - 1
8-133899122-A-AG c.1506dup p.Q503Afs*34 Frameshift 9/48 - 1
8-133899123-G-GC c.1507dup p.Q503Pfs*34 Frameshift 9/48 - 1
8-133899125-CAACTTGGT-C c.1508_1515del p.Q503Pfs*31 Frameshift 9/48 - 1
8-133899127-CT-GC c.1510_1511delinsGC p.L504A Missense 9/48 - 1
8-133899127-C-T c.1510C>T p.L504F Missense 9/48 - 1
8-133899129-T-TC c.1512_1513insC p.G505Rfs*32 Frameshift 9/48 - 1
8-133899130-G-T c.1513G>T p.G505C Missense 9/48 - 1
8-133899131-G-A c.1514G>A p.G505D Missense 9/48 - 2
8-133899133-CT-GC c.1516_1517delinsGC p.L506A Missense 9/48 - 1
8-133899134-T-C c.1517T>C p.L506P Missense 9/48 - 1
8-133899135-T-TG c.1519dup p.A507Gfs*30 Frameshift 9/48 - 1
8-133899136-TGCA-T c.1519_1521del p.A507del InFrameDeletion 9/48 - 2
8-133899137-C-G c.1520C>G p.A507G Missense 9/48 - 1
8-133899138-CAAG-C c.1521_1523del p.S508del InFrameDeletion 9/48 - 1
8-133899139-AG-GC c.1522_1523delinsGC p.S508A Missense 9/48 - 1
8-133899145-TT-GC c.1528_1529delinsGC p.L510A Missense 9/48 - 1
8-133899146-T-TG c.1530dup p.N511Efs*26 Frameshift 9/48 - 1
8-133899151-G-A c.1534G>A p.G512R Missense 9/48 - 1
8-133899150-T-TG c.1535dup p.G513Rfs*24 Frameshift 9/48 - 1
8-133899156-G-A c.1539G>A p.G513= Synonymous 9/48 - 1
8-133899159-A-C c.1542A>C p.R514S Missense 9/48 - 1
8-133899159-A-T c.1542A>T p.R514S Missense 9/48 - 1
8-133899159-A-AC c.1543dup p.Q515Pfs*22 Frameshift 9/48 - 1
8-133899160-C-T c.1543C>T p.Q515* Nonsense 9/48 - 1
8-133899163-G-A c.1546G>A p.E516K Missense 9/48 - 1
8-133899163-G-C c.1546G>C p.E516Q Missense 9/48 - 1
8-133899160-CAAG-C c.1548_1550del p.E516del InFrameDeletion 9/48 - 1
8-133899166-AGATTTGG-A c.1549_1555del p.D517Pfs*8 Frameshift 9/48 - 1
8-133899166-G-A c.1549G>A p.D517N Missense 9/48 - 1
8-133899167-A-C c.1550A>C p.D517A Missense 9/48 - 1
8-133899167-A-G c.1550A>G p.D517G Missense 9/48 - 1
8-133899169-TTG-ATC c.1552_1554delinsATC p.L518I Missense 9/48 - 1
8-133899170-T-TG c.1555dup p.A519Gfs*18 Frameshift 9/48 - 1
8-133899172-GC-TT c.1555_1556delinsTT p.A519F Missense 9/48 - 1
8-133899172-G-A c.1555G>A p.A519T Missense 9/48 - 1
8-133899172-G-GC c.1557dup p.K520Qfs*17 Frameshift 9/48 - 1
8-133899175-AAG-TTT c.1558_1560delinsTTT p.K520F Missense 9/48 - 1
8-133899177-G-GC c.1562dup p.L522Tfs*15 Frameshift 9/48 - 2
8-133899181-C-T c.1564C>T p.L522F Missense 9/48 - 2
8-133899184-T-G c.1567T>G p.S523A Missense 9/48 - 1
8-133899184-T-TC c.1568dup p.V524Cfs*13 Frameshift 9/48 - 1
8-133899185-CT-AA c.1568_1569delinsAA p.S523* Nonsense 9/48 - 1
8-133899185-C-G c.1568C>G p.S523C Missense 9/48 - 1
8-133899188-TG-AC c.1571_1572delinsAC p.V524D Missense 9/48 - 1
8-133899190-G-A c.1573G>A p.G525R Missense 9/48 - 3
8-133899190-G-C c.1573G>C p.G525R Missense 9/48 - 3
8-133899193-TT-GC c.1576_1577delinsGC p.L526A Missense 9/48 - 1
8-133899193-T-A c.1576T>A p.L526I Missense 9/48 - 1
8-133899199-T-C c.1582T>C p.S528P Missense 9/48 - 1
8-133899199-T-G c.1582T>G p.S528A Missense 9/48 - 1
8-133899199-T-TC c.1583dup p.N529Kfs*8 Frameshift 9/48 - 1
8-133899203-A-G c.1586A>G p.N529S Missense 9/48 - 1
8-133899205-T-A c.1588T>A p.S530T Missense 9/48 - 1
8-133899205-T-TC c.1589dup p.S531Ffs*6 Frameshift 9/48 - 1
8-133899208-TC-CT c.1591_1592delinsCT p.S531L Missense 9/48 - 3
8-133899214-G-T c.1597G>T p.G533* Nonsense 9/48 - 1
8-133899214-G-A c.1597G>A p.G533R Missense 9/48 - 1
8-133899214-G-C c.1597G>C p.G533R Missense 9/48 - 1
8-133899218-C-A c.1601C>A p.T534N Missense 9/48 - 1
8-133899220-C-T c.1603C>T p.P535S Missense 9/48 - 1
8-133899220-C-A c.1603C>A p.P535T Missense 9/48 - 1
8-133899217-A-AC c.1604dup p.E536* Nonsense 9/48 - 1
8-133899223-TG-T c.1606del p.E536Kfs*9 Frameshift 9/48 - 1
8-133899224-A-C c.1607A>C p.E536A Missense 9/48 - 1
8-133899223-G-GA c.1608dup p.A537Sfs*3 Frameshift 9/48 - 1
8-133899225-A-AG c.1609dup p.A537Gfs*3 Frameshift 9/48 - 1
8-133899227-C-CA c.1610_1611insA p.A538Cfs*2 Frameshift 9/48 - 1
8-133899227-GC-G c.1610del p.A537Vfs*8 Frameshift 9/48 - 1
8-133899227-C-T c.1610C>T p.A537V Missense 9/48 - 1
8-133899229-G-A c.1612G>A p.A538T Missense 9/48 - 3
8-133899231-T-A c.1614T>A p.A538= Synonymous 9/48 - 1
8-133899231-T-C c.1614T>C p.A538= Synonymous 9/48 - 1
8-133899231-T-G c.1614T>G p.A538= Synonymous 9/48 - 1
8-133899234-G-GC c.1617_1618insC p.K540Qfs*7 Frameshift 9/48 - 1
8-133899239-A-G c.1622A>G p.D541G Missense 9/48 - 1
8-133899240-T-G c.1623T>G p.D541E Missense 9/48 - 1
8-133899240-T-A c.1623T>A p.D541E Missense 9/48 - 1
8-133899241-GGT-TGA c.1624_1626delinsTGA p.G542* Nonsense 9/48 - 4
8-133899241-G-T c.1624G>T p.G542C Missense 9/48 - 4
8-133899242-G-T c.1625G>T p.G542V Missense 9/48 - 1
8-133899243-T-TGGGGGGGGGGGG c.1626_1627insGGGGGGGGGGGG p.G542_T543insGGGG InFrameInsertion 9/48 - 1
8-133899244-A-AC c.1628dup p.M544Yfs*3 Frameshift 9/48 - 1
8-133899246-CTATGAATAAGCCAACTGTGGGCAG-C c.1629_1652del p.M544_S551del InFrameDeletion 9/48 - 1
8-133899247-A-C c.1630A>C p.M544L Missense 9/48 - 1
8-133899248-T-TG c.1632dup p.N545Efs*2 Frameshift 9/48 - 1
8-133899249-TG-T c.1632del p.M544Ifs*52 Frameshift 9/48 - 1
8-133899251-AATAAGCCAACTG-A c.1634_1645del p.N545_V549delinsM MultiAAMissense 9/48 - 1
8-133899251-A-C c.1634A>C p.N545T Missense 9/48 - 1
8-133899251-A-AT c.1635dup p.K546* Nonsense 9/48 - 1
8-133899253-A-C c.1636A>C p.K546Q Missense 9/48 - 1
8-133899261-T-C c.1644T>C p.T548= Synonymous 9/48 - 1
8-133899261-T-G c.1644T>G p.T548= Synonymous 9/48 - 1
8-133899263-T-C c.1646T>C p.V549A Missense 9/48 - 1
8-133899265-G-C c.1648G>C p.G550R Missense 9/48 - 1
8-133899265-G-A c.1648G>A p.G550S Missense 9/48 - 1
8-133899263-T-TG c.1649dup p.S551Qfs*5 Frameshift 9/48 - 1
8-133899266-G-GAC c.1649_1650insAC p.S551Pfs*46 Frameshift 9/48 - 1
8-133899268-A-AG c.1652dup p.S551Rfs*5 Frameshift 9/48 - 1
8-133899269-G-A c.1652G>A p.S551N Missense 9/48 - 3
8-133899269-G-GC c.1653dup p.F552Lfs*4 Frameshift 9/48 - 1
8-133899274-GG-AC c.1657_1658delinsAC p.G553T Missense 9/48 - 2
8-133899273-T-TG c.1658dup p.F554Lfs*2 Frameshift 9/48 - 1
8-133899276-C-T c.1659C>T p.G553= Synonymous 9/48 - 1
8-133899276-C-G c.1659C>G p.G553= Synonymous 9/48 - 1
8-133899276-C-A c.1659C>A p.G553= Synonymous 9/48 - 1
8-133899280-G-A c.1663G>A p.E555K Missense 9/48 - 1
8-133899289-C-T c.1672C>T p.L558= Synonymous 9/48 - 1
8-133899289-CT-TC c.1672_1673delinsTC p.L558S Missense 9/48 - 2
8-133899287-ACCTACAAGAGAAC-A c.1672_1684del p.L558Kfs*34 Frameshift 9/48 - 1
8-133899290-T-C c.1673T>C p.L558P Missense 9/48 - 2
8-133899292-C-A c.1675C>A p.Q559K Missense 9/48 - 1
8-133899293-CAAGAGAACCAAAATGCCCTCAAATTCCTTGCTTCTCTCCTGGAGCTTCCAGAATTCCTT-C c.1676_1734del p.Q559Pfs*19 MultiAAMissense 9/48 - 1
8-133899295-G-A c.1678G>A p.E560K Missense 9/48 - 1
8-133899295-AG-A c.1678del p.E560Rfs*36 Frameshift 9/48 - 1
8-133899296-A-T c.1679A>T p.E560V Missense 9/48 - 1
8-133899296-A-AG c.1680dup p.N561Efs*37 Frameshift 9/48 - 1
8-133899300-C-A c.1683C>A p.N561K Missense 9/48 - 1
8-133899299-A-AC c.1684dup p.Q562Pfs*36 Frameshift 9/48 - 1
8-133899301-C-G c.1684C>G p.Q562E Missense 9/48 - 1
8-133899301-CA-GC c.1684_1685delinsGC p.Q562A Missense 9/48 - 1
8-133899301-CAAA-C c.1686_1688del p.Q562_N563delinsH MultiAAMissense 9/48 - 1
8-133899301-CA-C c.1688del p.N563Mfs*33 Frameshift 9/48 - 1
8-133899305-A-G c.1688A>G p.N563S Missense 9/48 - 1
8-133899307-TG-T c.1690del p.A564Pfs*32 Frameshift 9/48 - 1
8-133899308-C-T c.1691C>T p.A564V Missense 9/48 - 1
8-133899307-G-GC c.1693dup p.L565Pfs*33 Frameshift 9/48 - 1
8-133899310-C-T c.1693C>T p.L565F Missense 9/48 - 2
8-133899310-C-G c.1693C>G p.L565V Missense 9/48 - 1
8-133899311-T-TC c.1695dup p.K566Qfs*32 Frameshift 9/48 - 1
8-133899319-C-G c.1702C>G p.L568V Missense 9/48 - 2
8-133899320-T-C c.1703T>C p.L568P Missense 9/48 - 1
8-133899321-T-TG c.1705dup p.A569Gfs*29 Frameshift 9/48 - 1
8-133899322-G-T c.1705G>T p.A569S Missense 9/48 - 1
8-133899323-C-G c.1706C>G p.A569G Missense 9/48 - 1
8-133899325-TC-GA c.1708_1709inv p.S570D Missense 9/48 - 1
8-133899326-TC-T c.1709del p.S570Ffs*26 Frameshift 9/48 - 1
8-133899329-TC-AA c.1712_1713delinsAA p.L571Q Missense 9/48 - 1
8-133899329-T-G c.1712T>G p.L571R Missense 9/48 - 2
8-133899329-T-TC c.1714dup p.L572Pfs*26 Frameshift 9/48 - 1
8-133899332-T-TG c.1717dup p.E573Gfs*25 Frameshift 9/48 - 1
8-133899335-GA-G c.1718del p.E573Gfs*23 Frameshift 9/48 - 1
8-133899337-C-G c.1720C>G p.L574V Missense 9/48 - 1
8-133899339-T-C c.1722T>C p.L574= Synonymous 9/48 - 1
8-133899339-T-TC c.1724dup p.E576Rfs*22 Frameshift 9/48 - 1
8-133899343-GA-TC c.1726_1727inv p.E576S Missense 9/48 - 2
8-133899343-G-T c.1726G>T p.E576* Nonsense 9/48 - 1
8-133899344-A-C c.1727A>C p.E576A Missense 9/48 - 1
8-133899348-C-A c.1731C>A p.F577L Missense 9/48 - 1
8-133899347-T-TC c.1732dup p.L578Pfs*20 Frameshift 9/48 - 1
8-133899349-C-A c.1732C>A p.L578I Missense 9/48 - 1
8-133899345-ATTCCTTCTC-A c.1732_1740del p.L579_L581del InFrameDeletion 9/48 - 1
8-133899350-T-C c.1733T>C p.L578P Missense 9/48 - 1
8-133899352-C-T c.1735C>T p.L579F Missense 9/48 - 1
8-133899354-TC-T c.1737del p.F580Sfs*16 Frameshift 9/48 - 1
8-133899356-T-A c.1739T>A p.F580Y Missense 9/48 - 2
8-133899352-CTCT-C c.1740_1742del p.F580del InFrameDeletion 9/48 - 1
8-133899359-T-TG c.1743dup p.Q582Afs*16 Frameshift 9/48 - 1
8-133899364-CATGCT-C c.1750_1754del p.A584Lfs*12 Frameshift 9/48 - 1
8-133899369-T-G c.1752T>G p.A584= Synonymous 9/48 - 1
8-133899372-TC-T c.1755del p.S586Lfs*10 Frameshift 9/48 - 1
8-133899373-T-TC c.1757dup p.V587Cfs*11 Frameshift 9/48 - 1
8-133899376-G-A c.1759G>A p.V587M Missense 9/48 - 1
8-133899378-G-GC c.1763dup p.E589Rfs*9 Frameshift 9/48 - 1
8-133899386-A-T c.1769A>T p.D590V Missense 9/48 - 1
8-133899388-G-T c.1771G>T p.V591L Missense 9/48 - 1
8-133899389-T-C c.1772T>C p.V591A Missense 9/48 - 2
8-133899389-T-TG c.1774dup p.A592Gfs*6 Frameshift 9/48 - 1
8-133899392-C-G c.1775C>G p.A592G Missense 9/48 - 1
8-133899394-AGA-TGT c.1777_1779delinsTGT p.R593C Missense 9/48 - 1
8-133899394-AG-GC c.1777_1778delinsGC p.R593A Missense 9/48 - 1
8-133899394-A-AG c.1778dup p.D594Rfs*4 Frameshift 9/48 - 1
8-133899400-TT-GC c.1783_1784delinsGC p.L595A Missense 9/48 - 2
8-133899400-TT-CC c.1783_1784delinsCC p.L595P Missense 9/48 - 1
8-133899401-T-C c.1784T>C p.L595S Missense 9/48 - 1
8-133899404-G-C c.1787G>C p.G596A Missense 9/48 - 2
8-133899404-G-A c.1787G>A p.G596D Missense 9/48 - 1
8-133899404-G-T c.1787G>T p.G596V Missense 9/48 - 1
8-133899409-G-T c.1792G>T p.V598L Missense 9/48 - 1
8-133899410-T-G c.1793T>G p.V598G Missense 9/48 - 1
8-133899410-T-C c.1793T>C p.V598A Missense 9/48 - 1
8-133899415-GAA-TGG c.1798_1800delinsTGG p.E600W Missense 9/48 - 2
8-133899413-T-TG c.1798dup p.E600Gfs*10 Frameshift 9/48 - 1
8-133899417-A-ACGC c.1800_1801insCGC p.E600_T601insR InFrameInsertion 9/48 - 1
8-133899418-A-G c.1801A>G p.T601A Missense 9/48 - 1
8-133899415-GA-G c.1801del p.T601Rfs*39 Frameshift 9/48 - 1
8-133899419-C-CG c.1804dup p.V602Gfs*8 Frameshift 9/48 - 1
8-133899419-CG-C c.1804del p.V602Yfs*38 Frameshift 9/48 - 1
8-133899421-G-A c.1804G>A p.V602I Missense 9/48 - 1
8-133899421-G-T c.1804G>T p.V602L Missense 9/48 - 1
8-133899423-A-G c.1806A>G p.V602= Synonymous 9/48 - 1
8-133899423-A-AC c.1807dup p.L603Pfs*7 Frameshift 9/48 - 1
8-133899427-AG-GC c.1810_1811delinsGC p.S604A Missense 9/48 - 1
8-133899428-GCTC-G c.1813_1815del p.S605del InFrameDeletion 9/48 - 1
8-133899430-T-TC c.1816dup p.Q606Pfs*4 Frameshift 9/48 - 1
8-133899430-TC-T c.1816del p.Q606Rfs*34 Frameshift 9/48 - 1
8-133899433-C-T c.1816C>T p.Q606* Nonsense 9/48 - 2
8-133899435-G-GAT c.1819_1820insTA p.T607Ifs*34 Frameshift 9/48 - 1
8-133899438-C-A c.1821C>A p.T607= Synonymous 9/48 - 1
8-133899438-C-G c.1821C>G p.T607= Synonymous 9/48 - 1
8-133899438-C-T c.1821C>T p.T607= Synonymous 9/48 - 1
8-133899436-AC-A c.1821del p.C608Vfs*32 Frameshift 9/48 - 1
8-133899444-G-A c.1827G>A p.E609= Synonymous 9/48 - 1
8-133899445-CA-GC c.1828_1829delinsGC p.Q610A Missense 9/48 - 1
8-133899446-CAGA-C c.1829_1831del p.Q610_T611delinsP MultiAAMissense 9/48 - 1
8-133899446-A-AG c.1830dup p.T611Dfs*3 Frameshift 9/48 - 1
8-133899447-G-GA c.1831dup p.T611Nfs*3 Frameshift 9/48 - 1
8-133899448-A-AC c.1832dup p.P612Tfs*2 Frameshift 9/48 - 1
8-133899449-C-T c.1832C>T p.T611I Missense 9/48 - 1
8-133899451-C-T c.1834C>T p.P612S Missense 9/48 - 1
8-133899454-G-T c.1837G>T p.E613* Nonsense 9/48 - 1
8-133899456-A-C c.1839A>C p.E613D Missense 9/48 - 1
8-133899456-A-T c.1839A>T p.E613D Missense 9/48 - 1
8-133899457-AG-CA c.1840_1841delinsCA p.R614Q Missense 9/48 - 1
8-133899457-AG-A c.1842del p.R614Sfs*26 Frameshift 9/48 - 1
8-133899459-G-GC c.1843dup p.L615Pfs*13 Frameshift 9/48 - 1
8-133899460-CT-GC c.1843_1844delinsGC p.L615A Missense 9/48 - 6
8-133899460-C-T c.1843C>T p.L615= Synonymous 9/48 - 2
8-133899461-T-C c.1844T>C p.L615P Missense 9/48 - 1
8-133899464-T-G c.1847T>G p.F616C Missense 9/48 - 1
8-133899466-G-T c.1849G>T p.V617F Missense 9/48 - 13
8-133899467-T-TC c.1853dup p.S619Ifs*9 Frameshift 9/48 - 1
8-133899470-C-G c.1853C>G p.P618R Missense 9/48 - 2
8-133899473-C-T c.1856C>T p.S619L Missense 9/48 - 2
8-133899472-T-TC c.1856dup p.C620Mfs*8 Frameshift 9/48 - 1
8-133899475-T-G c.1858T>G p.C620G Missense 9/48 - 1
8-133899475-T-A c.1858T>A p.C620S Missense 9/48 - 1
8-133899476-G-C c.1859G>C p.C620S Missense 9/48 - 1
8-133899475-T-C c.1858T>C p.C620R Missense 9/48 - 1
8-133899476-G-T c.1859G>T p.C620F Missense 9/48 - 2
8-133899476-G-A c.1859G>A p.C620Y Missense 9/48 - 1
8-133899477-C-G c.1860C>G p.C620W Missense 9/48 - 1
8-133899478-A-T c.1861A>T p.T621S Missense 9/48 - 1
8-133899481-ACA-TGT c.1864_1866inv p.T622C Missense 9/48 - 2
8-133899484-G-A c.1867G>A p.E623K Missense 9/48 - 1
8-133899485-A-C c.1868A>C p.E623A Missense 9/48 - 1
8-133899492-C-T c.1875C>T p.S625= Synonymous 9/48 - 1
8-133899494-A-T c.1877A>T p.Y626F Missense 9/48 - 1
8-133899495-ATG-A c.1878_1879del p.Y626* Frameshift 9/48 - 1
8-133899497-A-AG c.1882dup p.D628Gfs*36 Frameshift 9/48 - 1
8-133899498-GGATGTCCAATGCTTTTCC-G c.1883_1900del p.D628_S633del InFrameDeletion 9/48 - 1
8-133899502-G-GT c.1886dup p.Q630Pfs*34 Frameshift 9/48 - 1
8-133899503-GT-G c.1886del p.V629Afs*11 Frameshift 9/48 - 1
8-133899504-C-A c.1887C>A p.V629= Synonymous 9/48 - 1
8-133899504-C-G c.1887C>G p.V629= Synonymous 9/48 - 1
8-133899504-C-T c.1887C>T p.V629= Synonymous 9/48 - 1
8-133899505-C-T c.1888C>T p.Q630* Nonsense 9/48 - 1
8-133899506-CAATGCT-C c.1889_1894del p.Q630_F632delinsL MultiAAMissense 9/48 - 1
8-133899506-CAA-C c.1889_1890del p.Q630Lfs*33 Frameshift 9/48 - 1
8-133899506-CAATG-C c.1889_1892del p.Q630Pfs*9 Frameshift 9/48 - 1
8-133899506-CAATGCTTT-C c.1889_1896del p.Q630Lfs*31 Frameshift 9/48 - 1
8-133899507-A-C c.1890A>C p.Q630H Missense 9/48 - 1
8-133899508-T-C c.1891T>C p.C631R Missense 9/48 - 1
8-133899513-T-TC c.1896_1897insC p.S633Lfs*31 Frameshift 9/48 - 1
8-133899513-T-C c.1896T>C p.F632= Synonymous 9/48 - 1
8-133899514-T-TC c.1899dup p.G634Rfs*30 Frameshift 9/48 - 1
8-133899516-C-A c.1899C>A p.S633= Synonymous 9/48 - 1
8-133899515-CCGGAGAGTGCTGGTGTGTGAATT-C c.1900_1922del p.G634Lfs*22 Frameshift 9/48 - 1
8-133899517-GGA-TGT c.1900_1902delinsTGT p.G634C Missense 9/48 - 3
8-133899517-G-A c.1900G>A p.G634R Missense 9/48 - 1
8-133899517-G-C c.1900G>C p.G634R Missense 9/48 - 1
8-133899516-C-CG c.1901dup p.E635Rfs*29 Frameshift 9/48 - 1
8-133899521-A-AG c.1905dup p.C636Vfs*28 Frameshift 9/48 - 1
8-133899523-T-TG c.1907dup p.C636Wfs*28 Frameshift 9/48 - 1
8-133899524-G-A c.1907G>A p.C636Y Missense 9/48 - 1
8-133899524-G-T c.1907G>T p.C636F Missense 9/48 - 2
8-133899524-G-GC c.1908dup p.W637Lfs*27 Frameshift 9/48 - 1
8-133899527-G-A c.1910G>A p.W637* Nonsense 9/48 - 1
8-133899528-G-A c.1911G>A p.W637* Nonsense 9/48 - 1
8-133899534-TGA-T c.1917_1918del p.N640Ffs*23 Frameshift 9/48 - 1
8-133899537-T-C c.1920T>C p.N640= Synonymous 9/48 - 1
8-133899538-T-C c.1921T>C p.S641P Missense 9/48 - 2
8-133899537-T-TTG c.1921_1922insGT p.S641Cfs*81 Frameshift 9/48 - 1
8-133899539-C-CGT c.1922_1923insGT p.W642Sfs*80 Frameshift 9/48 - 1
8-133899541-CTG-C c.1924_1925del p.W642Gfs*21 Frameshift 9/48 - 1
8-133899541-TGGGGCAAA-T c.1926_1933del p.W642* Frameshift 9/48 - 1
8-133899544-G-T c.1927G>T p.G643C Missense 9/48 - 1
8-133899544-GGC-TGA c.1927_1929delinsTGA p.G643* Nonsense 9/48 - 1
8-133899541-T-TG c.1928dup p.K644Qfs*20 Frameshift 9/48 - 1
8-133899545-G-A c.1928G>A p.G643D Missense 9/48 - 2
8-133899548-AA-TG c.1931_1932delinsTG p.K644M Missense 9/48 - 1
8-133899549-A-ATG c.1932_1933insTG p.E645Wfs*77 Frameshift 9/48 - 1
8-133899549-A-G c.1932A>G p.K644= Synonymous 9/48 - 1
8-133899550-G-GA c.1934dup p.L646Afs*18 Frameshift 9/48 - 1
8-133899548-AAG-A c.1934_1935del p.E645Afs*18 Frameshift 9/48 - 1
8-133899553-GC-G c.1936del p.L646Ffs*75 Frameshift 9/48 - 1
8-133899553-C-T c.1936C>T p.L646F Missense 9/48 - 1
8-133899553-C-A c.1936C>A p.L646I Missense 9/48 - 1
8-133899557-C-T c.1940C>T p.P647L Missense 9/48 - 1
8-133899559-G-A c.1942G>A p.G648S Missense 9/48 - 1
8-133899563-C-A c.1946C>A p.S649* Nonsense 9/48 - 1
8-133899563-CA-TT c.1946_1947delinsTT p.S649F Missense 9/48 - 1
8-133899565-AGA-CAT c.1948_1950delinsCAT p.R650H Missense 9/48 - 1
8-133899565-AG-GC c.1948_1949delinsGC p.R650A Missense 9/48 - 1
8-133899566-G-A c.1949G>A p.R650K Missense 9/48 - 1
8-133899573-A-AG c.1958dup p.G654Wfs*10 Frameshift 9/48 - 2
8-133899575-G-A c.1958G>A p.G653D Missense 9/48 - 2
8-133899575-GT-AG c.1958_1959delinsAG p.G653E Missense 9/48 - 1
8-133899578-GA-AC c.1961_1962delinsAC p.G654D Missense 9/48 - 1
8-133899576-T-TG c.1961dup p.Q655Tfs*9 Frameshift 9/48 - 1
8-133899580-AC-A c.1963del p.Q655Sfs*66 Frameshift 9/48 - 1
8-133899580-C-T c.1963C>T p.Q655* Nonsense 9/48 - 2
8-133899582-G-A c.1965G>A p.Q655= Synonymous 9/48 - 1
8-133899583-C-T c.1966C>T p.P656S Missense 9/48 - 1
8-133899587-G-A c.1970G>A p.R657K Missense 9/48 - 1
8-133899589-TG-AC c.1972_1973delinsAC p.C658T Missense 9/48 - 1
8-133899596-CA-TG c.1979_1980inv p.T660M Missense 9/48 - 1
8-133899598-AG-A c.1981del p.D661Tfs*60 Frameshift 9/48 - 1
8-133899598-G-T c.1981G>T p.D661Y Missense 9/48 - 1
8-133899600-AC-A c.1983del p.C662Vfs*59 Frameshift 9/48 - 1
8-133899602-G-A c.1985G>A p.C662Y Missense 9/48 - 1
8-133899610-C-G c.1993C>G p.Q665E Missense 9/48 - 1
8-133899613-A-G c.1996A>G p.R666G Missense 9/48 - 1
8-133899613-A-AG c.1999dup p.A667Gfs*23 Frameshift 9/48 - 1
8-133899617-C-G c.2000C>G p.A667G Missense 9/48 - 1
8-133899619-C-T c.2002C>T p.R668C Missense 9/48 - 9
8-133899624-G-GC c.2008dup p.Q670Pfs*20 Frameshift 9/48 - 1
8-133899629-G-A c.2012G>A p.S671N Missense 9/48 - 1
8-133899629-G-GC c.2014dup p.L672Pfs*18 Frameshift 9/48 - 1
8-133899637-G-C c.2020G>C p.G674R Missense 9/48 - 1
8-133899638-G-C c.2021G>C p.G674A Missense 9/48 - 1
8-133899638-G-GC c.2022dup p.S675Qfs*15 Frameshift 9/48 - 1
8-133899640-AG-GA c.2023_2024delinsGA p.S675D Missense 9/48 - 1
8-133899640-AG-GC c.2023_2024delinsGC p.S675A Missense 9/48 - 1
8-133899641-G-GC c.2026dup p.Q676Pfs*14 Frameshift 9/48 - 1
8-133899643-C-T c.2026C>T p.Q676* Nonsense 9/48 - 1
8-133899645-G-T c.2028G>T p.Q676H Missense 9/48 - 1
8-133899645-GC-G c.2030del p.P677Lfs*44 Frameshift 9/48 - 1
8-133899649-G-A c.2032G>A p.A678T Missense 9/48 - 1
8-133899645-GCCTGCTGGCTCCA-G c.2032_2044del p.A678Cfs*39 Frameshift 9/48 - 1
8-133899652-G-C c.2035G>C p.G679R Missense 9/48 - 1
8-133899651-T-TG c.2036dup p.S680Lfs*10 Frameshift 9/48 - 1
8-133899653-G-C c.2036G>C p.G679A Missense 9/48 - 1
8-133899653-G-GC c.2037dup p.S680Lfs*10 Frameshift 9/48 - 2
8-133899653-GCT-G c.2038_2039del p.S680Hfs*9 Frameshift 9/48 - 1
8-133899655-TC-AA c.2038_2039delinsAA p.S680N Missense 9/48 - 2
8-133899655-TC-GG c.2038_2039delinsGG p.S680G Missense 9/48 - 1
8-133899655-T-TC c.2040dup p.T681Hfs*9 Frameshift 9/48 - 1
8-133899655-TC-T c.2040del p.T681Pfs*40 Frameshift 9/48 - 1
8-133899658-A-T c.2041A>T p.T681S Missense 9/48 - 1
8-133899658-AC-TG c.2041_2042delinsTG p.T681C Missense 9/48 - 1
8-133899658-AC-GG c.2041_2042delinsGG p.T681G Missense 9/48 - 1
8-133899659-C-T c.2042C>T p.T681I Missense 9/48 - 1
8-133899658-AC-A c.2043del p.L682Cfs*39 Frameshift 9/48 - 2
8-133899662-T-TG c.2046dup p.F683Vfs*7 Frameshift 9/48 - 1
8-133899668-T-A c.2051T>A p.V684D Missense 9/48 - 1
8-133899669-C-CA c.2052_2053insA p.P685Tfs*5 Frameshift 9/48 - 3
8-133899668-TC-T c.2054del p.P685Lfs*36 Frameshift 9/48 - 1
8-133899668-T-TC c.2054dup p.A686Cfs*4 Frameshift 9/48 - 1
8-133899671-C-T c.2054C>T p.P685L Missense 9/48 - 4
8-133899674-C-T c.2057C>T p.A686V Missense 9/48 - 1
8-133899677-TG-T c.2060del p.C687Lfs*34 Frameshift 9/48 - 1
8-133899682-AGT-TGA c.2065_2067delinsTGA p.S689* Nonsense 9/48 - 1
8-133899684-T-TG c.2068dup p.E690Gfs*18 Frameshift 9/48 - 1
8-133899685-G-A c.2068G>A p.E690K Missense 9/48 - 1
8-133899686-AG-A c.2072del p.G691Dfs*30 Frameshift 9/48 - 1
8-133899689-G-T c.2072G>T p.G691V Missense 9/48 - 1
8-133899690-A-AC c.2074dup p.H692Pfs*16 Frameshift 9/48 - 1
8-133899691-C-T c.2074C>T p.H692Y Missense 9/48 - 1
8-133899694-T-C c.2077T>C p.F693L Missense 9/48 - 1
8-133899696-C-A c.2079C>A p.F693L Missense 9/48 - 1
8-133899696-C-G c.2079C>G p.F693L Missense 9/48 - 1
8-133899695-T-TC c.2080dup p.L694Pfs*14 Frameshift 9/48 - 1
8-133899697-CT-GC c.2080_2081delinsGC p.L694A Missense 9/48 - 1
8-133899698-T-TG c.2082dup p.P695Afs*13 Frameshift 9/48 - 1
8-133899701-C-A c.2084C>A p.P695H Missense 9/48 - 1
8-133899703-TG-T c.2086del p.V696Sfs*25 Frameshift 9/48 - 1
8-133899708-AG-A c.2091del p.Q697Hfs*24 Frameshift 9/48 - 1
8-133899710-G-GC c.2094dup p.F699Lfs*9 Frameshift 9/48 - 1
8-133899711-C-T c.2094C>T p.C698= Synonymous 9/48 - 1
8-133899711-C-G c.2094C>G p.C698W Missense 9/48 - 1
8-133899717-C-T c.2100C>T p.N700= Synonymous 9/48 - 1
8-133899718-TC-GT c.2101_2102delinsGT p.S701V Missense 9/48 - 1
8-133899721-G-C c.2104G>C p.E702Q Missense 9/48 - 1
8-133899722-A-AG c.2106dup p.C703Vfs*5 Frameshift 9/48 - 1
8-133899723-G-C c.2106G>C p.E702D Missense 9/48 - 1
8-133899723-G-T c.2106G>T p.E702D Missense 9/48 - 1
8-133899725-G-A c.2108G>A p.C703Y Missense 9/48 - 1
8-133899726-GC-G c.2109del p.Y704Tfs*17 Frameshift 9/48 - 1
8-133899730-TG-AC c.2113_2114delinsAC p.C705T Missense 9/48 - 1
8-133899735-TTG-T c.2118_2119del p.D707Cfs*2 Frameshift 9/48 - 1
8-133899737-A-T c.2120A>T p.D707V Missense 9/48 - 1
8-133899740-C-CT c.2124dup p.E709* Nonsense 9/48 - 1
8-133899742-G-C c.2125G>C p.E709Q Missense 9/48 - 1
8-133899745-G-A c.2128G>A p.G710S Missense 9/48 - 1
8-133899743-AG-A c.2129del p.G710Vfs*11 Frameshift 9/48 - 1
8-133899746-GT-AG c.2129_2130delinsAG p.G710E Missense 9/48 - 1
8-133899749-A-AG c.2134dup p.A712Gfs*24 Frameshift 9/48 - 2
8-133899759-CTG-C c.2142_2143del p.G715Nfs*20 Frameshift 9/48 - 1
8-133899760-G-A c.2143G>A p.G715R Missense 9/48 - 1
8-133899760-G-C c.2143G>C p.G715R Missense 9/48 - 1
8-133899761-G-C c.2144G>C p.G715A Missense 9/48 - 1
8-133899761-GA-G c.2146del p.T716Lfs*5 Frameshift 9/48 - 1
8-133899764-C-T c.2147C>T p.T716I Missense 9/48 - 28
8-133899763-ACT-A c.2148_2149del p.R717Kfs*18 Frameshift 9/48 - 1
8-133899767-G-A c.2150G>A p.R717Q Missense 9/48 - 1
8-133899772-G-A c.2155G>A p.A719T Missense 9/48 - 1
8-133899772-G-T c.2155G>T p.A719S Missense 9/48 - 1
8-133899773-C-G c.2156C>G p.A719G Missense 9/48 - 11
8-133899779-G-C c.2162G>C p.G721A Missense 9/48 - 2
8-133899777-AG-A c.2163del p.K722Sfs*76 Frameshift 9/48 - 1
8-133899780-GGA-G c.2163_2164del p.K722Afs*13 Frameshift 9/48 - 1
8-133899781-GAAGCCCAAGAAATGTAAGTCTGTTGGGTATTCAATCTGTAGGTTCCCTGAGTCTCTCTT-G c.2164_2176+46del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/48 9/47 1
8-133899784-C-G c.2167C>G p.P723A Missense 9/48 - 1
8-133899783-G-GC c.2169dup p.K724Qfs*12 Frameshift 9/48 - 1
8-133899786-C-T c.2169C>T p.P723= Synonymous 9/48 - 1
8-133899789-G-GT c.2172_2173insT p.K725* Nonsense 9/48 - 1
8-133899789-G-GA c.2175dup p.C726Mfs*10 SpliceDonorInsertion 9/48 - 2
8-133899792-AATGTAAGTCTGTTGGGTATTCAATCTGTAGGTTCCCTGAGTCTCTCTTTAGGCCCTGAC-A c.2175_2176+57del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/48 9/47 1
8-133900235-AC-A c.2183del p.T728Sfs*70 Frameshift 10/48 - 1
8-133900235-C-A c.2183C>A p.T728K Missense 10/48 - 1
8-133900237-CCCTGTCAATTA-C c.2187_2197del p.C730Vfs*2 Frameshift 10/48 - 2
8-133900242-T-A c.2190T>A p.C730* Nonsense 10/48 - 1
8-133900243-TCA-T c.2191_2192del p.Q731Ifs*4 Frameshift 10/48 - 1
8-133900243-C-T c.2191C>T p.Q731* Nonsense 10/48 - 1
8-133900247-T-G c.2195T>G p.L732* Nonsense 10/48 - 3
8-133900252-T-A c.2200T>A p.S734T Missense 10/48 - 8
8-133900252-T-C c.2200T>C p.S734P Missense 10/48 - 7
8-133900252-T-G c.2200T>G p.S734A Missense 10/48 - 9
8-133900253-C-T c.2201C>T p.S734F Missense 10/48 - 1
8-133900257-G-GC c.2206dup p.Q736Pfs*13 Frameshift 10/48 - 1
8-133900262-C-T c.2210C>T p.A737V Missense 10/48 - 1
8-133900262-CT-C c.2213del p.F738Sfs*60 Frameshift 10/48 - 1
8-133900265-T-TC c.2215dup p.L739Pfs*10 Frameshift 10/48 - 1
8-133900265-TC-T c.2215del p.L739Sfs*59 Frameshift 10/48 - 1
8-133900269-C-A c.2217C>A p.L739= Synonymous 10/48 - 1
8-133900270-AG-TA c.2218_2219delinsTA p.R740* Nonsense 10/48 - 1
8-133900272-G-C c.2220G>C p.R740S Missense 10/48 - 2
8-133900272-G-T c.2220G>T p.R740S Missense 10/48 - 2
8-133900273-A-AC c.2222dup p.V742Gfs*7 Frameshift 10/48 - 1
8-133900274-C-T c.2222C>T p.T741M Missense 10/48 - 1
8-133900282-G-T c.2230G>T p.A744S Missense 10/48 - 1
8-133900280-AG-A c.2230del p.A744Pfs*54 Frameshift 10/48 - 1
8-133900282-G-GC c.2233dup p.L745Pfs*4 Frameshift 10/48 - 1
8-133900282-GC-G c.2233del p.L745Cfs*53 Frameshift 10/48 - 2
8-133900285-C-CT c.2234dup p.L746Afs*3 Frameshift 10/48 - 1
8-133900291-T-G c.2239T>G p.S747A Missense 10/48 - 1
8-133900291-CTCTAACTCCAGCATG-C c.2239_2253del p.S747_M751del InFrameDeletion 10/48 - 1
8-133900291-CTCTAACTCCAGCATGCTA-C c.2239_2256del p.S747_L752del InFrameDeletion 10/48 - 1
8-133900292-CT-AA c.2240_2241delinsAA p.S747* Nonsense 10/48 - 1
8-133900292-C-CT c.2241dup p.N748* Nonsense 10/48 - 1
8-133900295-A-C c.2243A>C p.N748T Missense 10/48 - 1
8-133900296-C-T c.2244C>T p.N748= Synonymous 10/48 - 1
8-133900302-GCATGCTACCCACCCTTTCCGACACC-G c.2250_2274del p.M751Tfs*39 Frameshift 10/48 - 1
8-133900306-C-T c.2254C>T p.L752= Synonymous 10/48 - 1
8-133900306-CT-TC c.2254_2255delinsTC p.L752S Missense 10/48 - 1
8-133900305-G-GC c.2254dup p.L752Pfs*28 Frameshift 10/48 - 1
8-133900312-A-AC c.2263dup p.L755Pfs*25 Frameshift 10/48 - 1
8-133900316-T-C c.2264T>C p.L755P Missense 10/48 - 1
8-133900318-T-TC c.2268dup p.D757Rfs*23 Frameshift 10/48 - 2
8-133900321-CG-C c.2269del p.D757Tfs*41 Frameshift 10/48 - 2
8-133900322-A-AC c.2271dup p.T758Hfs*22 Frameshift 10/48 - 1
8-133900327-TA-GC c.2275_2276delinsGC p.Y759A Missense 10/48 - 3
8-133900327-TAC-GAG c.2275_2277delinsGAG p.Y759E Missense 10/48 - 1
8-133900328-A-T c.2276A>T p.Y759F Missense 10/48 - 2
8-133900328-A-G c.2276A>G p.Y759C Missense 10/48 - 1
8-133900335-A-AC c.2284dup p.Q762Pfs*18 Frameshift 10/48 - 1
8-133900337-A-C c.2285A>C p.Q762P Missense 10/48 - 1
8-133900337-A-AG c.2286dup p.C763Vfs*17 Frameshift 10/48 - 1
8-133900338-AG-A c.2286del p.Q762Hfs*36 Frameshift 10/48 - 1
8-133900345-A-G c.2293A>G p.T765A Missense 10/48 - 1
8-133900345-A-AC c.2295dup p.D766Rfs*14 Frameshift 10/48 - 1
8-133900345-AC-A c.2295del p.D766Mfs*32 Frameshift 10/48 - 1
8-133900351-GGG-TGT c.2299_2301delinsTGT p.G767C Missense 10/48 - 1
8-133900352-GG-AC c.2300_2301delinsAC p.G767D Missense 10/48 - 1
8-133900355-A-AG c.2304dup p.W769Vfs*11 Frameshift 10/48 - 1
8-133900359-G-A c.2307G>A p.W769* Nonsense 10/48 - 1
8-133900359-G-T c.2307G>T p.W769C Missense 10/48 - 1
8-133900363-C-T c.2311C>T p.Q771* Nonsense 10/48 - 1
8-133900363-C-CA c.2313dup p.V772Sfs*8 Frameshift 10/48 - 1
8-133900366-AG-A c.2314del p.V772Cfs*26 Frameshift 10/48 - 1
8-133900366-G-A c.2314G>A p.V772M Missense 10/48 - 1
8-133900366-GTG-ATC c.2314_2316delinsATC p.V772I Missense 10/48 - 1
8-133900367-T-C c.2315T>C p.V772A Missense 10/48 - 1
8-133900369-C-T c.2317C>T p.Q773* Nonsense 10/48 - 1
8-133900369-CA-C c.2319del p.Q773Hfs*25 Frameshift 10/48 - 1
8-133900372-TG-AC c.2320_2321delinsAC p.C774T Missense 10/48 - 1
8-133900376-A-AG c.2324_2325insG p.N775Kfs*5 Frameshift 10/48 - 1
8-133900381-C-T c.2329C>T p.P777S Missense 10/48 - 1
8-133900380-G-GC c.2330dup p.P778Sfs*2 Frameshift 10/48 - 1
8-133900382-C-G c.2330C>G p.P777R Missense 10/48 - 1
8-133900383-T-TC c.2333dup p.E779* Nonsense 10/48 - 1
8-133900386-T-C c.2334T>C p.P778= Synonymous 10/48 - 6
8-133900387-G-A c.2335G>A p.E779K Missense 10/48 - 2
8-133900389-G-A c.2337G>A p.E779= Synonymous 10/48 - 1
8-133900390-C-T c.2338C>T p.Q780* Nonsense 10/48 - 3
8-133900390-C-A c.2338C>A p.Q780K Missense 10/48 - 1
8-133900391-AG-A c.2341del p.V781Sfs*17 Frameshift 10/48 - 1
8-133900397-T-TTCCTTCCCAGAGTCATC c.2345_2346insTCCTTCCCAGAGTCATC p.E783Pfs*21 Frameshift 10/48 - 1
8-133900397-T-TC c.2346dup p.E783Rfs*44 Frameshift 10/48 - 1
8-133900398-TCGAGTTGTACCAACGATGGGAGGC-T c.2346_2369del p.E783_A790del InFrameDeletion 10/48 - 1
8-133900406-A-T c.2354A>T p.Y785F Missense 10/48 - 1
8-133900406-A-AC c.2356dup p.Q786Pfs*41 Frameshift 10/48 - 1
8-133900410-A-AG c.2358_2359insG p.R787Afs*40 Frameshift 10/48 - 1
8-133900411-CGA-TGT c.2359_2361delinsTGT p.R787C Missense 10/48 - 1
8-133900414-AT-A c.2362del p.W788Gfs*10 Frameshift 10/48 - 1
8-133900414-TG-T c.2365del p.E789Rfs*9 Frameshift 10/48 - 1
8-133900414-T-TG c.2365dup p.E789Gfs*38 Frameshift 10/48 - 1
8-133900421-C-T c.2369C>T p.A790V Missense 10/48 - 1
8-133900423-CA-GC c.2371_2372delinsGC p.Q791A Missense 10/48 - 1
8-133900427-A-AC c.2376dup p.K793Qfs*34 Frameshift 10/48 - 1
8-133900433-G-T c.2381G>T p.G794V Missense 10/48 - 1
8-133900438-G-T c.2386G>T p.D796Y Missense 10/48 - 14
8-133900438-G-C c.2386G>C p.D796H Missense 10/48 - 4
8-133900439-A-AC c.2387_2388insC p.L797Sfs*30 Frameshift 10/48 - 1
8-133900439-A-T c.2387A>T p.D796V Missense 10/48 - 1
8-133900441-TC-T c.2389del p.L797* Frameshift 10/48 - 2
8-133900441-C-A c.2389C>A p.L797M Missense 10/48 - 1
8-133900444-A-G c.2392A>G p.T798A Missense 10/48 - 2
8-133900447-C-G c.2395C>G p.P799A Missense 10/48 - 1
8-133900447-C-T c.2395C>T p.P799S Missense 10/48 - 1
8-133900447-C-A c.2395C>A p.P799T Missense 10/48 - 1
8-133900451-C-G c.2399C>G p.A800G Missense 10/48 - 1
8-133900452-C-CGAGTCATCCTCAGTTGA c.2400_2401insGAGTCATCCTCAGTTGA p.K801Efs*9 Frameshift 10/48 - 1
8-133900455-G-GC c.2404dup p.L802Pfs*25 Frameshift 10/48 - 1
8-133900456-CT-GC c.2404_2405delinsGC p.L802A Missense 10/48 - 2
8-133900459-C-T c.2407C>T p.L803= Synonymous 10/48 - 2
8-133900462-G-A c.2410G>A p.V804M Missense 10/48 - 1
8-133900462-G-C c.2410G>C p.V804L Missense 10/48 - 1
8-133900462-G-T c.2410G>T p.V804L Missense 10/48 - 1
8-133900464-G-A c.2412G>A p.V804= Synonymous 10/48 - 1
8-133900465-AA-GC c.2413_2414delinsGC p.K805A Missense 10/48 - 1
8-133900468-GA-G c.2416del p.I806Sfs*2 Frameshift 10/48 - 1
8-133900468-A-AG c.2416_2417insG p.I806Sfs*21 Frameshift 10/48 - 1
8-133900471-CA-C c.2419del p.M807* Frameshift 10/48 - 1
8-133900478-A-G c.2426A>G p.Y809C Missense 10/48 - 1
8-133900481-G-C c.2429G>C p.R810T Missense 10/48 - 1
8-133900489-AG-A c.2437del p.A813Lfs*35 Frameshift 10/48 - 1
8-133900495-G-A c.2443G>A p.G815R Missense 10/48 - 2
8-133900495-G-T c.2443G>T p.G815* Nonsense 10/48 - 1
8-133900496-G-A c.2444G>A p.G815E Missense 10/48 - 1
8-133900499-A-C c.2447A>C p.N816T Missense 10/48 - 1
8-133900496-GA-G c.2447del p.N816Tfs*32 Frameshift 10/48 - 1
8-133900501-TT-CC c.2449_2450delinsCC p.F817P Missense 10/48 - 2
8-133900506-T-TC c.2455dup p.L819Pfs*8 Frameshift 10/48 - 1
8-133900507-C-G c.2455C>G p.L819V Missense 10/48 - 1
8-133900518-A-T c.2466A>T p.Q822H Missense 10/48 - 1
8-133900518-A-C c.2466A>C p.Q822H Missense 10/48 - 1
8-133900519-A-AG c.2468dup p.S823Rfs*4 Frameshift 10/48 - 1
8-133900527-TGAG-T c.2477_2479del p.E826del InFrameDeletion 10/48 - 1
8-133900531-GCT-CCTAGG c.2479_2481delinsCCTAGG p.A827delinsPR MultiAAMissense 10/48 - 1
8-133900531-G-A c.2479G>A p.A827T Missense 10/48 - 1
8-133900532-C-G c.2480C>G p.A827G Missense 10/48 - 1
8-133900540-C-T c.2488C>T p.Q830* Nonsense 10/48 - 1
8-133900543-G-T c.2491G>T p.D831Y Missense 10/48 - 1
8-133900546-G-A c.2494G>A p.V832I Missense 10/48 - 1
8-133900545-T-TG c.2494dup p.V832Gfs*63 Frameshift 10/48 - 1
8-133900547-T-G c.2495T>G p.V832G Missense 10/48 - 1
8-133900547-TCTTC-T c.2497_2500del p.F833Rfs*14 Frameshift 10/48 - 1
8-133900550-T-TC c.2501dup p.V835Gfs*60 Frameshift 10/48 - 1
8-133900554-G-T c.2502G>T p.P834= Synonymous 10/48 - 1
8-133900554-G-A c.2502G>A p.P834= Synonymous 10/48 - 1
8-133900554-G-C c.2502G>C p.P834= Synonymous 10/48 - 1
8-133900556-T-TG c.2505dup p.L836Afs*59 Frameshift 10/48 - 1
8-133900559-CTGTCA-C c.2507_2511del p.L836Pfs*57 Frameshift 10/48 - 1
8-133900561-GT-G c.2509del p.S837Hfs*11 Frameshift 10/48 - 1
8-133900570-C-T c.2518C>T p.P840S Missense 10/48 - 1
8-133900568-AC-A c.2519del p.P840Lfs*8 Frameshift 10/48 - 1
8-133900571-C-T c.2519C>T p.P840L Missense 10/48 - 1
8-133900576-TC-T c.2524del p.L842Cfs*6 Frameshift 10/48 - 1
8-133900581-A-AG c.2530dup p.D844Gfs*51 Frameshift 10/48 - 1
8-133900582-G-A c.2530G>A p.D844N Missense 10/48 - 1
8-133900585-G-A c.2533G>A p.V845I Missense 10/48 - 1
8-133900586-T-TC c.2537dup p.L847Tfs*48 Frameshift 10/48 - 1
8-133900591-C-T c.2539C>T p.L847= Synonymous 10/48 - 1
8-133900594-G-T c.2542G>T p.A848S Missense 10/48 - 1
8-133900594-G-GC c.2543dup p.A849Sfs*46 Frameshift 10/48 - 1
8-133900597-G-GC c.2546dup p.L850Tfs*45 Frameshift 10/48 - 1
8-133900600-ACTG-A c.2548_2550del p.L850del InFrameDeletion 10/48 - 1
8-133900604-A-G c.2552A>G p.E851G Missense 10/48 - 1
8-133900612-CG-AA c.2560_2561delinsAA p.R854K Missense 10/48 - 1
8-133900618-C-T c.2566C>T p.Q856* Nonsense 10/48 - 2
8-133900624-AG-CT c.2572_2573inv p.R858L Missense 10/48 - 1
8-133900624-AG-A c.2575del p.E859Rfs*14 Frameshift 10/48 - 1
8-133900629-G-T c.2577G>T p.E859D Missense 10/48 - 1
8-133900631-A-C c.2579A>C p.N860T Missense 10/48 - 1
8-133900634-T-A c.2582T>A p.I861N Missense 10/48 - 1
8-133900634-TC-T c.2584del p.L862Sfs*11 Frameshift 10/48 - 1
8-133900637-T-TC c.2587dup p.L863Pfs*32 Frameshift 10/48 - 1
8-133900639-C-T c.2587C>T p.L863= Synonymous 10/48 - 1
8-133900640-T-A c.2588T>A p.L863Q Missense 10/48 - 1
8-133900641-TGGAGCCCTACC-T c.2589_2599del p.E864Lfs*27 Frameshift 10/48 - 2
8-133900645-C-A c.2593C>A p.P865T Missense 10/48 - 1
8-133900644-G-GC c.2595dup p.Y866Lfs*29 Frameshift 10/48 - 2
8-133900653-C-CG c.2601_2602insG p.F868Vfs*27 Frameshift 10/48 - 1
8-133900662-G-T c.2610G>T p.Q870H Missense 10/48 - 2
8-133900663-GA-G c.2611del p.I871Sfs*2 Frameshift 10/48 - 1
8-133900663-A-G c.2611A>G p.I871V Missense 10/48 - 1
8-133900663-ATC-A c.2613_2614del p.L872Kfs*22 Frameshift 10/48 - 1
8-133900672-G-A c.2620G>A p.G874S Missense 10/48 - 1
8-133900675-C-T c.2623C>T p.Q875* Nonsense 10/48 - 1
8-133900678-AC-A c.2626del p.L876Sfs*90 Frameshift 10/48 - 1
8-133900678-C-A c.2626C>A p.L876I Missense 10/48 - 1
8-133900680-TC-T c.2628del p.S877Afs*89 Frameshift 10/48 - 1
8-133900685-AAT-A c.2635_2636del p.Y879Pfs*15 Frameshift 10/48 - 1
8-133900689-C-A c.2637C>A p.Y879* Nonsense 10/48 - 1
8-133900688-A-AC c.2639dup p.S882Vfs*13 Frameshift 10/48 - 1
8-133900688-AC-A c.2639del p.P880Rfs*86 Frameshift 10/48 - 1
8-133900689-CCCGGGGTCCTA-C c.2639_2649del p.P880Lfs*11 Frameshift 10/48 - 1
8-133900696-T-TTG c.2644_2645insTG p.S882Lfs*85 Frameshift 10/48 - 1
8-133900702-T-G c.2650T>G p.S884A Missense 10/48 - 1
8-133900703-C-CA c.2652dup p.D885Rfs*10 Frameshift 10/48 - 1
8-133900706-A-C c.2654A>C p.D885A Missense 10/48 - 1
8-133900706-A-AC c.2655dup p.F886Lfs*9 Frameshift 10/48 - 1
8-133900709-T-TC c.2658dup p.S887Qfs*8 Frameshift 10/48 - 1
8-133900712-AGC-A c.2660_2661del p.S887Nfs*7 Frameshift 10/48 - 1
8-133900716-T-C c.2664T>C p.T888= Synonymous 10/48 - 1
8-133900721-T-TG c.2671dup p.A891Gfs*4 Frameshift 10/48 - 1
8-133900725-A-AC c.2674dup p.H892Pfs*3 Frameshift 10/48 - 1
8-133900739-G-A c.2687G>A p.R896Q Missense 10/48 - 1
8-133900745-G-A c.2693G>A p.C898Y Missense 10/48 - 1
8-133900745-G-GC c.2694dup p.W899Lfs*5 Frameshift 10/48 - 1
8-133900747-CT-C c.2695del p.W899Gfs*67 Frameshift 10/48 - 1
8-133900750-TG-GC c.2698_2699delinsGC p.C900A Missense 10/48 - 1
8-133900754-T-TG c.2704dup p.D902Gfs*2 Frameshift 10/48 - 1
8-133900756-G-C c.2704G>C p.D902H Missense 10/48 - 1
8-133900757-A-G c.2705A>G p.D902G Missense 10/48 - 1
8-133900759-G-A c.2707G>A p.E903K Missense 10/48 - 1
8-133900763-C-T c.2711C>T p.A904V Missense 10/48 - 1
8-133900766-G-A c.2714G>A p.G905D Missense 10/48 - 1
8-133900771-G-T c.2719G>T p.E907* Nonsense 10/48 - 1
8-133900771-G-C c.2719G>C p.E907Q Missense 10/48 - 1
8-133900773-A-AC c.2722dup p.L908Pfs*7 Frameshift 10/48 - 1
8-133900774-C-A c.2722C>A p.L908M Missense 10/48 - 1
8-133900786-CGG-AGC c.2734_2736delinsAGC p.R912S Missense 10/48 - 1
8-133900787-G-C c.2735G>C p.R912P Missense 10/48 - 1
8-133900789-T-TTC c.2737_2738insTC p.S913Ffs*54 Frameshift 10/48 - 1
8-133900794-G-GC c.2744dup p.S916Kfs*11 Frameshift 10/48 - 1
8-133900796-C-T c.2744C>T p.P915L Missense 10/48 - 1
8-133900798-AG-GC c.2746_2747delinsGC p.S916A Missense 10/48 - 1
8-133900799-G-GC c.2748dup p.K917Qfs*10 Frameshift 10/48 - 1
8-133900805-T-TC c.2756dup p.T920Nfs*7 Frameshift 10/48 - 1
8-133900810-A-G c.2758A>G p.T920A Missense 10/48 - 1
8-133900811-C-G c.2759C>G p.T920R Missense 10/48 - 1
8-133905933-AG-A c.2762del p.C921Ffs*45 Frameshift 11/48 - 1
8-133905936-T-G c.2763T>G p.C921W Missense 11/48 - 1
8-133905937-C-A c.2764C>A p.P922T Missense 11/48 - 1
8-133905936-T-TC c.2765dup p.G923Wfs*4 Frameshift 11/48 - 1
8-133905936-TCCTGGCTCCTGTGAGGAAG-T c.2765_2783del p.P922Qfs*38 Frameshift 11/48 - 1
8-133905941-G-T c.2768G>T p.G923V Missense 11/48 - 1
8-133905945-C-T c.2772C>T p.S924= Synonymous 11/48 - 1
8-133905948-GT-G c.2775del p.C925Wfs*41 Frameshift 11/48 - 1
8-133905949-G-A c.2776G>A p.E926K Missense 11/48 - 1
8-133905949-G-T c.2776G>T p.E926* Nonsense 11/48 - 1
8-133905952-GAAGCAA-G c.2781_2786del p.A928_K929del InFrameDeletion 11/48 - 1
8-133905960-AG-A c.2787del p.K929Nfs*37 Frameshift 11/48 - 1
8-133905964-C-CG c.2792dup p.V932Cfs*6 Frameshift 11/48 - 1
8-133905967-G-A c.2794G>A p.V932I Missense 11/48 - 1
8-133905978-C-CA c.2806dup p.I936Nfs*2 Frameshift 11/48 - 1
8-133905979-A-T c.2806A>T p.I936F Missense 11/48 - 1
8-133905984-G-T c.2811G>T p.R937S Missense 11/48 - 1
8-133905991-GA-G c.2820del p.E941Rfs*25 Frameshift 11/48 - 1
8-133906000-G-A c.2827G>A p.V943I Missense 11/48 - 1
8-133906006-G-A c.2833G>A p.A945T Missense 11/48 - 1
8-133906007-C-T c.2834C>T p.A945V Missense 11/48 - 1
8-133906007-CT-C c.2836del p.S946Pfs*20 Frameshift 11/48 - 1
8-133906013-A-G c.2840A>G p.N947S Missense 11/48 - 1
8-133906015-A-AG c.2843dup p.S948Rfs*21 Frameshift 11/48 - 1
8-133906016-G-A c.2843G>A p.S948N Missense 11/48 - 1
8-133906016-AG-A c.2843del p.S948Ifs*18 Frameshift 11/48 - 1
8-133906018-T-G c.2845T>G p.S949A Missense 11/48 - 1
8-133906018-TC-GA c.2845_2846inv p.S949D Missense 11/48 - 1
8-133906020-T-TC c.2848dup p.R950Pfs*19 Frameshift 11/48 - 1
8-133906027-CC-TG c.2854_2855delinsTG p.P952C Missense 11/48 - 1
8-133906025-TC-T c.2855del p.P952Lfs*14 Frameshift 11/48 - 1
8-133906025-T-TC c.2855dup p.L953Sfs*16 Frameshift 11/48 - 1
8-133906030-CTG-TGT c.2857_2859delinsTGT p.L953C Missense 11/48 - 1
8-133906033-G-A c.2860G>A p.G954R Missense 11/48 - 1
8-133906033-G-C c.2860G>C p.G954R Missense 11/48 - 1
8-133906036-G-A c.2863G>A p.E955K Missense 11/48 - 1
8-133906036-G-C c.2863G>C p.E955Q Missense 11/48 - 1
8-133906036-G-T c.2863G>T p.E955* Nonsense 11/48 - 1
8-133906037-GA-G c.2864del p.E955Gfs*11 Frameshift 11/48 - 1
8-133906037-A-G c.2864A>G p.E955G Missense 11/48 - 1
8-133906043-T-TG c.2870_2871insG p.F957Lfs*12 Frameshift 11/48 - 1
8-133906045-C-G c.2872C>G p.L958V Missense 11/48 - 1
8-133906046-TG-T c.2875del p.V959Wfs*7 Frameshift 11/48 - 1
8-133906049-T-TG c.2878dup p.A960Gfs*9 Frameshift 11/48 - 1
8-133906055-AG-A c.2885del p.G962Efs*4 Frameshift 11/48 - 1
8-133906060-AAT-A c.2887_2888del p.I963Pfs*5 Frameshift 11/48 - 1
8-133906061-T-TC c.2890dup p.R964Pfs*5 Frameshift 11/48 - 1
8-133906067-TGAGGAATGAGGACCTC-T c.2896_2911del p.R966Afs*32 Frameshift 11/48 - 1
8-133906075-G-T c.2902G>T p.E968* Nonsense 11/48 - 1
8-133906076-A-AG c.2905dup p.D969Gfs*23 Frameshift 11/48 - 1
8-133906084-G-A c.2911G>A p.G971S Missense 11/48 - 1
8-133906084-G-C c.2911G>C p.G971R Missense 11/48 - 2
8-133906084-G-T c.2911G>T p.G971C Missense 11/48 - 1
8-133906089-TC-T c.2918del p.P973Lfs*30 Frameshift 11/48 - 1
8-133906096-C-G c.2923C>G p.L975V Missense 11/48 - 1
8-133906097-T-TC c.2925dup p.F976Lfs*16 Frameshift 11/48 - 1
8-133906099-TT-GC c.2926_2927delinsGC p.F976A Missense 11/48 - 1
8-133906100-T-TC c.2930dup p.P978Afs*14 Frameshift 11/48 - 1
8-133906100-TC-T c.2930del p.P977Rfs*26 Frameshift 11/48 - 1
8-133906103-C-T c.2930C>T p.P977L Missense 11/48 - 2
8-133906109-G-A c.2936G>A p.R979Q Missense 11/48 - 1
8-133906108-C-CG c.2938dup p.E980Gfs*12 Frameshift 11/48 - 1
8-133906114-G-A c.2941G>A p.A981T Missense 11/48 - 1
8-133906117-T-C c.2944T>C p.F982L Missense 11/48 - 1
8-133906122-G-A c.2949G>A p.A983= Synonymous 11/48 - 1
8-133906122-G-C c.2949G>C p.A983= Synonymous 11/48 - 1
8-133906122-G-T c.2949G>T p.A983= Synonymous 11/48 - 1
8-133906128-AG-A c.2955del p.Q985Hfs*18 Frameshift 11/48 - 1
8-133906128-GT-G c.2958del p.L987Cfs*16 Frameshift 11/48 - 1
8-133906132-C-T c.2959C>T p.L987= Synonymous 11/48 - 2
8-133906134-G-GC c.2962dup p.R988Pfs*4 Frameshift 11/48 - 1
8-133906135-C-A c.2962C>A p.R988S Missense 11/48 - 1
8-133906135-C-CG c.2963dup p.G989Wfs*3 Frameshift 11/48 - 1
8-133906136-G-T c.2963G>T p.R988L Missense 11/48 - 1
8-133906137-TG-T c.2967del p.S990Vfs*13 Frameshift 11/48 - 1
8-133906150-G-A c.2977G>A p.A993T Missense 11/48 - 1
8-133906150-G-GC c.2979dup p.I994Hfs*39 Frameshift 11/48 - 1
8-133906152-C-A c.2979C>A p.A993= Synonymous 11/48 - 1
8-133906152-C-G c.2979C>G p.A993= Synonymous 11/48 - 1
8-133906152-C-T c.2979C>T p.A993= Synonymous 11/48 - 1
8-133906156-C-T c.2983C>T p.R995C Missense 11/48 - 1
8-133906159-CT-GC c.2986_2987delinsGC p.L996A Missense 11/48 - 1
8-133906161-G-A c.2988G>A p.L996= Synonymous 11/48 - 2
8-133906164-G-C c.2991G>C p.A997= Synonymous 11/48 - 2
8-133906165-G-A c.2992G>A p.A998T Missense 11/48 - 1
8-133906165-GC-TG c.2992_2993delinsTG p.A998C Missense 11/48 - 1
8-133906166-C-T c.2993C>T p.A998V Missense 11/48 - 1
8-133906170-G-A c.2997G>A p.Q999= Synonymous 11/48 - 1
8-133909894-C-T c.3002C>T p.T1001I Missense 12/48 - 5
8-133909899-AGC-GAG c.3007_3009delinsGAG p.S1003E Missense 12/48 - 1
8-133909899-AG-GC c.3007_3008delinsGC p.S1003A Missense 12/48 - 1
8-133909901-C-A c.3009C>A p.S1003R Missense 12/48 - 1
8-133909910-G-GA c.3019dup p.R1007Kfs*26 Frameshift 12/48 - 1
8-133909914-AC-A c.3022del p.R1008Afs*45 Frameshift 12/48 - 1
8-133909915-GCCGCTTTTC-G c.3026_3034del p.R1009_S1011del InFrameDeletion 12/48 - 1
8-133909923-T-TC c.3035dup p.D1013Gfs*20 Frameshift 12/48 - 1
8-133909927-C-T c.3035C>T p.P1012L Missense 12/48 - 2
8-133909932-G-A c.3040G>A p.D1014N Missense 12/48 - 1
8-133909933-A-G c.3041A>G p.D1014G Missense 12/48 - 1
8-133909939-GCT-G c.3047_3048del p.A1016Gfs*16 Frameshift 12/48 - 1
8-133909951-C-G c.3059C>G p.A1020G Missense 12/48 - 1
8-133909953-CT-C c.3063del p.L1022Cfs*31 Frameshift 12/48 - 1
8-133909957-TGCGGTC-T c.3067_3072del p.R1023_S1024del InFrameDeletion 12/48 - 1
8-133909968-CCC-TAA c.3076_3078delinsTAA p.P1026* Nonsense 12/48 - 2
8-133909972-A-AC c.3081dup p.M1028Hfs*5 Frameshift 12/48 - 1
8-133909974-A-G c.3082A>G p.M1028V Missense 12/48 - 10
8-133909980-C-T c.3088C>T p.Q1030* Nonsense 12/48 - 2
8-133909981-A-G c.3089A>G p.Q1030R Missense 12/48 - 2
8-133909984-TG-T c.3092del p.C1031Lfs*22 Frameshift 12/48 - 1
8-133909993-T-A c.3101T>A p.F1034Y Missense 12/48 - 1
8-133909996-G-T c.3104G>T p.G1035V Missense 12/48 - 1
8-133910000-T-G c.3108T>G p.S1036R Missense 12/48 - 1
8-133910000-T-A c.3108T>A p.S1036R Missense 12/48 - 1
8-133909998-A-C c.3106A>C p.S1036R Missense 12/48 - 1
8-133910005-A-C c.3113A>C p.E1038A Missense 12/48 - 1
8-133910005-A-AG c.3114dup p.P1039Afs*16 Frameshift 12/48 - 1
8-133910007-C-T c.3115C>T p.P1039S Missense 12/48 - 1
8-133910017-GC-G c.3127del p.H1043Tfs*10 Frameshift 12/48 - 1
8-133910025-G-A c.3133G>A p.G1045R Missense 12/48 - 1
8-133910026-G-C c.3134G>C p.G1045A Missense 12/48 - 1
8-133910415-G-GC c.3142dup p.H1048Pfs*7 Frameshift 13/48 - 1
8-133910422-T-TG c.3150dup p.C1051Vfs*4 Frameshift 13/48 - 1
8-133910425-TG-AC c.3151_3152delinsAC p.C1051T Missense 13/48 - 2
8-133910426-TG-T c.3152del p.C1051Lfs*2 Frameshift 13/48 - 1
8-133910427-T-A c.3153T>A p.C1051* Nonsense 13/48 - 1
8-133910440-G-A c.3166G>A p.G1056R Missense 13/48 - 1
8-133910443-G-GC c.3169_3170insC p.G1057Afs*37 Frameshift 13/48 - 1
8-133910443-GG-AC c.3169_3170delinsAC p.G1057T Missense 13/48 - 1
8-133910444-GG-AC c.3170_3171delinsAC p.G1057D Missense 13/48 - 3
8-133910450-T-TC c.3179dup p.G1061Wfs*33 Frameshift 13/48 - 1
8-133910455-G-C c.3181G>C p.G1061R Missense 13/48 - 1
8-133910458-T-TC c.3185dup p.L1063Tfs*31 Frameshift 13/48 - 1
8-133910461-C-T c.3187C>T p.L1063= Synonymous 13/48 - 1
8-133910464-A-G c.3190A>G p.T1064A Missense 13/48 - 1
8-133910465-C-A c.3191C>A p.T1064N Missense 13/48 - 1
8-133910466-T-C c.3192T>C p.T1064= Synonymous 13/48 - 1
8-133910467-GC-TG c.3193_3194delinsTG p.A1065C Missense 13/48 - 1
8-133910470-C-T c.3196C>T p.R1066C Missense 13/48 - 3
8-133910470-C-A c.3196C>A p.R1066S Missense 13/48 - 1
8-133910471-G-A c.3197G>A p.R1066H Missense 13/48 - 2
8-133910471-G-T c.3197G>T p.R1066L Missense 13/48 - 1
8-133910474-C-CT c.3201dup p.L1068Sfs*26 Frameshift 13/48 - 1
8-133910476-C-T c.3202C>T p.L1068= Synonymous 13/48 - 1
8-133910479-C-T c.3205C>T p.Q1069* Nonsense 13/48 - 1
8-133910479-C-G c.3205C>G p.Q1069E Missense 13/48 - 1
8-133910480-A-G c.3206A>G p.Q1069R Missense 13/48 - 1
8-133910484-T-TC c.3212dup p.Q1072Tfs*22 Frameshift 13/48 - 1
8-133910487-A-AC c.3214dup p.Q1072Pfs*22 Frameshift 13/48 - 1
8-133910496-G-A c.3217+5G>A - IntronicSNV - 13/47 1
8-133911043-G-A c.3218G>A p.C1073Y Missense 14/48 - 1
8-133911051-A-AC c.3228dup p.C1077Lfs*17 Frameshift 14/48 - 1
8-133911054-T-C c.3229T>C p.C1077R Missense 14/48 - 2
8-133911055-TG-T c.3230del p.C1077Sfs*33 Frameshift 14/48 - 1
8-133911054-T-TG c.3230dup p.C1077Wfs*17 Frameshift 14/48 - 1
8-133911056-C-CT c.3231_3232insT p.E1078* Nonsense 14/48 - 1
8-133911072-CA-C c.3247del p.S1083Vfs*27 Frameshift 14/48 - 1
8-133911072-AG-CC c.3247_3248delinsCC p.S1083P Missense 14/48 - 1
8-133911072-A-AG c.3248dup p.S1083Rfs*11 Frameshift 14/48 - 1
8-133911077-G-GC c.3253dup p.L1085Pfs*9 Frameshift 14/48 - 1
8-133911078-C-T c.3253C>T p.L1085= Synonymous 14/48 - 1
8-133911082-T-TTTTGTATTAGAATGGAA c.3259_3260insTGTATTAGAATGGAATT p.S1087Lfs*3 Frameshift 14/48 - 1
8-133911091-G-A c.3266G>A p.W1089* Nonsense 14/48 - 3
8-133911092-G-A c.3267G>A p.W1089* Nonsense 14/48 - 2
8-133911099-G-GC c.3275dup p.R1093* Nonsense 14/48 - 1
8-133911111-G-T c.3286G>T p.E1096* Nonsense 14/48 - 1
8-133911134-G-A c.3309G>A p.L1103= Synonymous 14/48 - 1
8-133911136-T-TC c.3312dup p.V1105Rfs*78 Frameshift 14/48 - 1
8-133911138-CG-C c.3313del p.V1105Sfs*5 Frameshift 14/48 - 1
8-133911141-C-T c.3316C>T p.P1106S Missense 14/48 - 1
8-133911144-GCC-ATG c.3319_3321delinsATG p.A1107M Missense 14/48 - 1
8-133911146-C-T c.3321C>T p.A1107= Synonymous 14/48 - 1
8-133911151-T-G c.3326T>G p.L1109R Missense 14/48 - 1
8-133912483-C-G c.3332C>G p.T1111R Missense 15/48 - 1
8-133912484-A-AG c.3335dup p.E1113Rfs*70 Frameshift 15/48 - 1
8-133912494-GC-CG c.3343_3344delinsCG p.A1115R Missense 15/48 - 1
8-133912495-C-T c.3344C>T p.A1115V Missense 15/48 - 1
8-133912497-AG-CC c.3346_3347delinsCC p.R1116P Missense 15/48 - 1
8-133912500-CTG-TTT c.3349_3351delinsTTT p.L1117F Missense 15/48 - 1
8-133912503-C-T c.3352C>T p.Q1118* Nonsense 15/48 - 1
8-133912515-G-A c.3364G>A p.A1122T Missense 15/48 - 1
8-133912518-G-T c.3367G>T p.G1123C Missense 15/48 - 1
8-133912519-G-GC c.3369dup p.T1124Hfs*59 Frameshift 15/48 - 1
8-133912521-A-AC c.3372dup p.W1125Lfs*58 Frameshift 15/48 - 1
8-133912523-C-G c.3372C>G p.T1124= Synonymous 15/48 - 1
8-133912528-G-T c.3377G>T p.C1126F Missense 15/48 - 1
8-133912534-A-G c.3383A>G p.D1128G Missense 15/48 - 1
8-133912534-A-C c.3383A>C p.D1128A Missense 15/48 - 3
8-133912558-G-A c.3407G>A p.R1136Q Missense 15/48 - 1
8-133912560-C-A c.3409C>A p.P1137T Missense 15/48 - 1
8-133912563-G-T c.3412G>T p.G1138C Missense 15/48 - 1
8-133912564-GGC-G c.3413_3414del p.G1138Vfs*44 Frameshift 15/48 - 1
8-133912567-C-T c.3416C>T p.S1139L Missense 15/48 - 3
8-133912568-GAGC-G c.3423_3425del p.S1142del InFrameDeletion 15/48 - 1
8-133912575-AGT-TGA c.3424_3426delinsTGA p.S1142* Nonsense 15/48 - 1
8-133913599-C-T c.3435C>T p.C1145= Synonymous 16/48 - 5
8-133913600-C-T c.3436C>T p.P1146S Missense 16/48 - 1
8-133913604-G-GC c.3442dup p.L1148Pfs*35 Frameshift 16/48 - 1
8-133913616-GT-G c.3452del p.V1151Gfs*53 Frameshift 16/48 - 1
8-133913621-A-T c.3457A>T p.K1153* Nonsense 16/48 - 1
8-133913624-A-ATTGTG c.3460_3461insTTGTG p.S1154Ifs*52 Frameshift 16/48 - 1
8-133913624-A-AG c.3461dup p.S1154Rfs*29 Frameshift 16/48 - 1
8-133913649-G-T c.3485G>T p.S1162I Missense 16/48 - 2
8-133913689-CT-C c.3529del p.S1177Pfs*27 Frameshift 16/48 - 1
8-133913693-T-TC c.3533dup p.V1179Sfs*4 Frameshift 16/48 - 1
8-133913697-C-T c.3533C>T p.P1178L Missense 16/48 - 2
8-133913693-TC-T c.3533del p.P1178Qfs*26 Frameshift 16/48 - 1
8-133913702-C-T c.3538C>T p.Q1180* Nonsense 16/48 - 1
8-133913703-A-G c.3539A>G p.Q1180R Missense 16/48 - 2
8-133913705-TG-GC c.3541_3542delinsGC p.C1181A Missense 16/48 - 1
8-133913718-A-G c.3554A>G p.Q1185R Missense 16/48 - 1
8-133913729-T-TG c.3567dup p.C1190Vfs*22 Frameshift 16/48 - 1
8-133913729-TG-T c.3567del p.W1189Cfs*15 Frameshift 16/48 - 1
8-133913742-A-C c.3578A>C p.D1193A Missense 16/48 - 1
8-133913744-A-G c.3580A>G p.S1194G Missense 16/48 - 1
8-133913753-G-T c.3589G>T p.E1197* Nonsense 16/48 - 1
8-133913760-C-T c.3596C>T p.P1199L Missense 16/48 - 1
8-133913761-TGG-T c.3599_3600del p.G1200Dfs*11 Frameshift 16/48 - 1
8-133913768-CG-GC c.3604_3605delinsGC p.R1202A Missense 16/48 - 1
8-133913768-CGC-GAG c.3604_3606delinsGAG p.R1202E Missense 16/48 - 1
8-133913769-GC-AA c.3605_3606delinsAA p.R1202Q Missense 16/48 - 1
8-133913770-GC-G c.3606del p.V1203* Frameshift 16/48 - 1
8-133913774-ACCGGGGGCCAGCC-A c.3612_3624del p.G1205Pfs*54 Frameshift 16/48 - 1
8-133913780-G-A c.3616G>A p.G1206S Missense 16/48 - 1
8-133913788-C-A c.3624C>A p.P1208= Synonymous 16/48 - 1
8-133913793-G-GT c.3630dup p.E1211* Nonsense 16/48 - 1
8-133913799-G-T c.3634+1G>T - IntronicSNV - 16/47 1
8-133917588-G-A c.3635-1345G>A - IntronicSNV - 16/47 1
8-133918937-G-T c.3639G>T p.P1213= Synonymous 17/48 - 1
8-133918937-G-A c.3639G>A p.P1213= Synonymous 17/48 - 1
8-133918937-G-C c.3639G>C p.P1213= Synonymous 17/48 - 1
8-133918938-C-T c.3640C>T p.R1214W Missense 17/48 - 1
8-133918939-G-A c.3641G>A p.R1214Q Missense 17/48 - 2
8-133918939-GG-AT c.3641_3642delinsAT p.R1214H Missense 17/48 - 1
8-133918945-C-T c.3647C>T p.P1216L Missense 17/48 - 1
8-133918961-CGTCGGAGG-C c.3663_3670del p.S1222Gfs*8 Frameshift 17/48 - 1
8-133918962-T-TC c.3665dup p.E1223Gfs*10 Frameshift 17/48 - 1
8-133918963-C-T c.3665C>T p.S1222L Missense 17/48 - 1
8-133918973-T-TG c.3677dup p.G1227Wfs*6 Frameshift 17/48 - 1
8-133918976-T-TG c.3680dup p.T1228Nfs*5 Frameshift 17/48 - 1
8-133918980-A-AC c.3683dup p.I1229Nfs*4 Frameshift 17/48 - 1
8-133918984-T-C c.3686T>C p.I1229T Missense 17/48 - 1
8-133918987-T-C c.3689T>C p.L1230P Missense 17/48 - 1
8-133918990-G-GT c.3693dup p.E1232* Nonsense 17/48 - 1
8-133918998-A-G c.3700A>G p.I1234V Missense 17/48 - 2
8-133919001-TC-AG c.3703_3704delinsAG p.S1235R Missense 17/48 - 2
8-133919011-C-T c.3713C>T p.T1238I Missense 17/48 - 1
8-133919017-C-CG c.3719_3720insG p.A1241Cfs*25 Frameshift 17/48 - 1
8-133919017-C-T c.3719C>T p.S1240F Missense 17/48 - 1
8-133919021-CCA-C c.3723_3724del p.M1242Afs*23 Frameshift 17/48 - 1
8-133919024-G-GC c.3727dup p.Q1243Pfs*23 Frameshift 17/48 - 1
8-133919025-C-CA c.3728dup p.Q1244Afs*22 Frameshift 17/48 - 1
8-133919030-G-A c.3732G>A p.Q1244= Synonymous 17/48 - 1
8-133919031-T-G c.3733T>G p.C1245G Missense 17/48 - 2
8-133919031-TG-AC c.3733_3734delinsAC p.C1245T Missense 17/48 - 2
8-133919031-T-C c.3733T>C p.C1245R Missense 17/48 - 3
8-133919037-TT-CC c.3739_3740delinsCC p.L1247P Missense 17/48 - 1
8-133919040-C-T c.3742C>T p.L1248= Synonymous 17/48 - 1
8-133919047-G-A c.3749G>A p.R1250H Missense 17/48 - 1
8-133919057-C-A c.3759C>A p.S1253= Synonymous 17/48 - 1
8-133919059-G-A c.3761G>A p.W1254* Nonsense 17/48 - 1
8-133919061-AGC-TGA c.3763_3765delinsTGA p.S1255* Nonsense 17/48 - 1
8-133919061-AG-CT c.3763_3764inv p.S1255L Missense 17/48 - 1
8-133919063-C-A c.3765C>A p.S1255R Missense 17/48 - 1
8-133919064-G-A c.3766G>A p.V1256M Missense 17/48 - 1
8-133919071-C-CT c.3773_3774insT p.P1259Tfs*7 Frameshift 17/48 - 1
8-133919077-GG-AC c.3779_3780delinsAC p.G1260D Missense 17/48 - 1
8-133919077-G-C c.3779G>C p.G1260A Missense 17/48 - 1
8-133919078-G-GGT c.3780_3781insGT p.P1261Vfs*3 Frameshift 17/48 - 1
8-133919077-G-GGT c.3780_3781insTG p.P1261Cfs*3 Frameshift 17/48 - 1
8-133919079-C-CTG c.3781_3782insTG p.P1261Lfs*3 Frameshift 17/48 - 1
8-133919079-C-A c.3781C>A p.P1261T Missense 17/48 - 1
8-133919082-T-C c.3784T>C p.L1262= Synonymous 17/48 - 1
8-133919083-T-TTG c.3785_3786insTG p.L1262Ffs*65 Frameshift 17/48 - 1
8-133919083-T-TG c.3786dup p.I1263Dfs*3 Frameshift 17/48 - 1
8-133919084-G-C c.3786G>C p.L1262F Missense 17/48 - 1
8-133919088-T-C c.3790T>C p.C1264R Missense 17/48 - 2
8-133919094-CTG-ATC c.3796_3798delinsATC p.L1266I Missense 17/48 - 2
8-133919097-G-A c.3799G>A p.E1267K Missense 17/48 - 1
8-133919099-G-T c.3801G>T p.E1267D Missense 17/48 - 1
8-133919099-G-C c.3801G>C p.E1267D Missense 17/48 - 1
8-133919106-C-T c.3808C>T p.R1270C Missense 17/48 - 1
8-133919107-G-A c.3809G>A p.R1270H Missense 17/48 - 1
8-133919109-T-TG c.3814dup p.E1272Gfs*38 Frameshift 17/48 - 2
8-133919114-AGT-A c.3816_3817del p.E1272Dfs*37 Frameshift 17/48 - 1
8-133919133-C-A c.3835C>A p.R1279= Synonymous 17/48 - 1
8-133919137-C-T c.3839C>T p.A1280V Missense 17/48 - 1
8-133919145-ACGTGAGTGGCATCAGAGCATCTATCCTGCACCCCGCTCCCTCTCAGGGCTAGGGCTGGG-A c.3847_3847+58del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 17/48 17/47 2
8-133920411-T-C c.3848-20T>C - IntronicSNV - 17/47 1
8-133920437-A-AG c.3855dup p.L1286Afs*24 Frameshift 18/48 - 1
8-133920438-G-GC c.3856dup p.L1286Pfs*24 Frameshift 18/48 - 1
8-133920442-TG-T c.3861del p.W1287Cfs*39 Frameshift 18/48 - 1
8-133920444-G-GC c.3862dup p.Q1288Pfs*22 Frameshift 18/48 - 1
8-133920454-C-T c.3871C>T p.Q1291* Nonsense 18/48 - 1
8-133920457-A-AC c.3877dup p.Q1293Pfs*17 Frameshift 18/48 - 1
8-133920482-T-TC c.3902dup p.P1302Afs*8 Frameshift 18/48 - 1
8-133920488-C-T c.3905C>T p.P1302L Missense 18/48 - 1
8-133920492-C-G c.3909C>G p.G1303= Synonymous 18/48 - 5
8-133920496-A-C c.3913A>C p.M1305L Missense 18/48 - 1
8-133920496-A-T c.3913A>T p.M1305L Missense 18/48 - 1
8-133920500-G-A c.3917G>A p.C1306Y Missense 18/48 - 1
8-133920501-C-CT c.3918_3919insT p.S1307* Nonsense 18/48 - 1
8-133920503-AG-A c.3920del p.S1307Mfs*19 Frameshift 18/48 - 1
8-133920505-G-T c.3922G>T p.A1308S Missense 18/48 - 1
8-133920508-GA-AG c.3925_3926delinsAG p.D1309S Missense 18/48 - 1
8-133920515-C-T c.3932C>T p.A1311V Missense 18/48 - 1
8-133920518-A-G c.3935A>G p.D1312G Missense 18/48 - 4
8-133920535-C-T c.3952C>T p.Q1318* Nonsense 18/48 - 1
8-133920546-AT-A c.3965del p.L1322Wfs*4 Frameshift 18/48 - 1
8-133920555-G-GC c.3973dup p.L1325Pfs*49 Frameshift 18/48 - 1
8-133920559-ACA-TGT c.3976_3978inv p.T1326C Missense 18/48 - 1
8-133920560-C-T c.3977C>T p.T1326I Missense 18/48 - 1
8-133920562-G-A c.3979G>A p.A1327T Missense 18/48 - 1
8-133920562-AG-A c.3979del p.A1327Pfs*9 Frameshift 18/48 - 1
8-133920567-C-T c.3984C>T p.R1328= Synonymous 18/48 - 1
8-133920568-G-A c.3985G>A p.G1329S Missense 18/48 - 1
8-133920569-G-C c.3986G>C p.G1329A Missense 18/48 - 5
8-133920574-TG-AC c.3991_3992delinsAC p.C1331T Missense 18/48 - 1
8-133920577-C-T c.3994C>T p.Q1332* Nonsense 18/48 - 1
8-133920582-C-G c.3999C>G p.I1333M Missense 18/48 - 1
8-133920583-C-G c.4000C>G p.Q1334E Missense 18/48 - 1
8-133920583-C-T c.4000C>T p.Q1334* Nonsense 18/48 - 1
8-133921827-G-T c.4002+1242G>T - IntronicSNV - 18/47 1
8-133923629-CT-GG c.4010_4011delinsGG p.T1337R Missense 19/48 - 2
8-133923646-T-A c.4027T>A p.S1343T Missense 19/48 - 1
8-133923651-T-TC c.4034dup p.V1346Cfs*28 Frameshift 19/48 - 1
8-133923660-C-A c.4041C>A p.C1347* Nonsense 19/48 - 1
8-133923670-TCT-GAG c.4051_4053delinsGAG p.S1351E Missense 19/48 - 1
8-133923670-T-G c.4051T>G p.S1351A Missense 19/48 - 1
8-133923676-C-T c.4057C>T p.Q1353* Nonsense 19/48 - 1
8-133923677-AG-A c.4060del p.V1354Wfs*4 Frameshift 19/48 - 1
8-133923683-GT-G c.4066del p.C1356Vfs*2 Frameshift 19/48 - 1
8-133923687-T-TC c.4069dup p.L1357Pfs*17 Frameshift 19/48 - 1
8-133923694-AGG-TGT c.4075_4077delinsTGT p.R1359C Missense 19/48 - 1
8-133923699-AG-A c.4080del p.E1360Dfs*3 Frameshift 19/48 - 1
8-133923705-A-AG c.4088dup p.V1364Sfs*10 Frameshift 19/48 - 1
8-133923708-A-G c.4089A>G p.G1363= Synonymous 19/48 - 1
8-133923712-A-T c.4093A>T p.N1365Y Missense 19/48 - 1
8-133923711-GA-G c.4094del p.N1365Mfs*38 Frameshift 19/48 - 1
8-133923727-AT-A c.4108del p.S1370Hfs*33 Frameshift 19/48 - 1
8-133923729-A-AC c.4111dup p.R1371Pfs*3 Frameshift 19/48 - 1
8-133923743-T-TC c.4127dup p.V1377Sfs*6 Frameshift 19/48 - 2
8-133923751-GGCTTCTCTTCCTGACTTACATGAC-G c.4132_4155del p.A1378_D1385del InFrameDeletion 19/48 - 1
8-133923763-G-A c.4144G>A p.D1382N Missense 19/48 - 1
8-133923764-A-G c.4145A>G p.D1382G Missense 19/48 - 1
8-133923768-A-AC c.4150dup p.H1384Pfs*2 Frameshift 19/48 - 1
8-133923774-C-G c.4155C>G p.D1385E Missense 19/48 - 1
8-133923774-C-A c.4155C>A p.D1385E Missense 19/48 - 1
8-133925209-T-G c.4160-83T>G - IntronicSNV - 19/47 1
8-133925298-GCC-G c.4166_4167del p.A1389Vfs*62 Frameshift 20/48 - 1
8-133925300-T-G c.4168T>G p.L1390V Missense 20/48 - 1
8-133925307-G-T c.4175G>T p.G1392V Missense 20/48 - 1
8-133925307-G-C c.4175G>C p.G1392A Missense 20/48 - 1
8-133925309-A-T c.4177A>T p.K1393* Nonsense 20/48 - 1
8-133925312-G-C c.4180G>C p.D1394H Missense 20/48 - 1
8-133925315-C-G c.4183C>G p.L1395V Missense 20/48 - 1
8-133925315-TC-T c.4183del p.L1395Sfs*8 Frameshift 20/48 - 1
8-133925315-C-T c.4183C>T p.L1395F Missense 20/48 - 1
8-133925324-C-T c.4192C>T p.R1398C Missense 20/48 - 1
8-133925325-G-A c.4193G>A p.R1398H Missense 20/48 - 2
8-133925331-C-G c.4199C>G p.T1400R Missense 20/48 - 1
8-133925333-G-A c.4201G>A p.D1401N Missense 20/48 - 1
8-133925333-G-T c.4201G>T p.D1401Y Missense 20/48 - 1
8-133925351-T-TC c.4220dup p.F1408Ifs*44 Frameshift 20/48 - 1
8-133925355-T-C c.4223T>C p.F1408S Missense 20/48 - 1
8-133925366-C-T c.4234C>T p.L1412= Synonymous 20/48 - 1
8-133925379-C-T c.4247C>T p.T1416M Missense 20/48 - 1
8-133925379-C-CG c.4248dup p.F1417Vfs*35 Frameshift 20/48 - 1
8-133925387-G-GC c.4256dup p.E1420Gfs*32 Frameshift 20/48 - 1
8-133925393-AC-A c.4263del p.I1422Sfs*27 Frameshift 20/48 - 1
8-133925397-TC-T c.4267del p.R1423Afs*26 Frameshift 20/48 - 1
8-133925406-T-TC c.4276dup p.Q1426Pfs*26 Frameshift 20/48 - 1
8-133925411-G-A c.4279G>A p.G1427R Missense 20/48 - 1
8-133925412-G-C c.4280G>C p.G1427A Missense 20/48 - 1
8-133925426-A-G c.4294A>G p.T1432A Missense 20/48 - 1
8-133925426-CACCTCT-C c.4294_4299del p.T1432_S1433del InFrameDeletion 20/48 - 1
8-133925431-TC-T c.4302del p.R1435Gfs*14 Frameshift 20/48 - 1
8-133925453-T-A c.4321T>A p.S1441T Missense 20/48 - 1
8-133925457-A-T c.4325A>T p.E1442V Missense 20/48 - 1
8-133925460-G-A c.4328G>A p.G1443E Missense 20/48 - 1
8-133925461-A-AC c.4329_4330insC p.F1444Lfs*8 Frameshift 20/48 - 1
8-133925477-A-AC c.4346dup p.S1450Kfs*2 Frameshift 20/48 - 1
8-133925478-C-A c.4346C>A p.T1449K Missense 20/48 - 1
8-133925480-A-AG c.4349dup p.S1450Rfs*2 Frameshift 20/48 - 1
8-133925490-G-A c.4358G>A p.S1453N Missense 20/48 - 1
8-133925493-AG-A c.4363del p.D1455Tfs*112 Frameshift 20/48 - 1
8-133925498-G-A c.4366G>A p.G1456R Missense 20/48 - 1
8-133925498-GG-AC c.4366_4367delinsAC p.G1456T Missense 20/48 - 1
8-133925500-GACTGGGA-G c.4368_4374del p.L1457Afs*108 Frameshift 20/48 - 1
8-133925501-AC-A c.4369del p.L1457Wfs*110 Frameshift 20/48 - 1
8-133925501-C-T c.4369C>T p.L1457= Synonymous 20/48 - 1
8-133925503-G-C c.4371G>C p.L1457= Synonymous 20/48 - 1
8-133925502-TG-T c.4373del p.G1458Dfs*109 Frameshift 20/48 - 1
8-133925509-C-T c.4377C>T p.C1459= Synonymous 20/48 - 1
8-133925510-G-A c.4378G>A p.V1460I Missense 20/48 - 2
8-133929917-C-T c.4379-1704C>T - IntronicSNV - 20/47 1
8-133930184-T-C c.4379-1437T>C - IntronicSNV - 20/47 2
8-133931055-A-T c.4379-566A>T - IntronicSNV - 20/47 1
8-133931650-AG-A c.4408del p.D1470Mfs*97 Frameshift 21/48 - 1
8-133931661-C-A c.4419C>A p.C1473* Nonsense 21/48 - 1
8-133931668-T-TG c.4427dup p.C1476Wfs*38 Frameshift 21/48 - 1
8-133931701-AG-CC c.4459_4460delinsCC p.S1487P Missense 21/48 - 1
8-133931713-TG-T c.4471del p.V1491Sfs*76 Frameshift 21/48 - 1
8-133931719-TG-AC c.4477_4478delinsAC p.C1493T Missense 21/48 - 1
8-133931722-C-T c.4480C>T p.P1494S Missense 21/48 - 1
8-133931723-C-T c.4481C>T p.P1494L Missense 21/48 - 2
8-133931735-C-T c.4493C>T p.T1498M Missense 21/48 - 2
8-133931740-ATT-GAG c.4498_4500delinsGAG p.I1500E Missense 21/48 - 1
8-133931744-C-CT c.4503dup p.A1502Cfs*12 Frameshift 21/48 - 1
8-133931748-T-C c.4506T>C p.A1502= Synonymous 21/48 - 2
8-133931751-A-G c.4509A>G p.G1503= Synonymous 21/48 - 1
8-133931752-G-GC c.4511dup p.S1506Qfs*8 Frameshift 21/48 - 1
8-133931768-A-AC c.4527dup p.C1510Lfs*4 SpliceDonorInsertion 21/48 - 1
8-133931771-G-A c.4528+1G>A - IntronicSNV - 21/47 1
8-133935590-CT-C c.4536del p.D1513Tfs*54 Frameshift 22/48 - 1
8-133935600-AG-TA c.4546_4547delinsTA p.R1516* Nonsense 22/48 - 1
8-133935605-C-A c.4551C>A p.N1517K Missense 22/48 - 1
8-133935613-G-GC c.4561dup p.L1521Pfs*4 Frameshift 22/48 - 1
8-133935642-C-T c.4588C>T p.R1530* Nonsense 22/48 - 5
8-133935642-C-G c.4588C>G p.R1530G Missense 22/48 - 1
8-133935649-G-GC c.4597dup p.Q1533Pfs*29 Frameshift 22/48 - 1
8-133935658-A-G c.4604A>G p.D1535G Missense 22/48 - 1
8-133935664-G-GC c.4611dup p.S1538Qfs*24 Frameshift 22/48 - 1
8-133935691-G-A c.4637G>A p.G1546D Missense 22/48 - 1
8-133935700-G-A c.4646G>A p.R1549Q Missense 22/48 - 1
8-133935707-G-GC c.4655dup p.W1553Mfs*9 Frameshift 22/48 - 1
8-133935707-GC-G c.4655del p.P1552Hfs*15 Frameshift 22/48 - 1
8-133935711-TG-T c.4659del p.W1553Cfs*14 Frameshift 22/48 - 1
8-133935717-GA-G c.4666del p.T1556Qfs*11 Frameshift 22/48 - 1
8-133935721-C-G c.4667C>G p.T1556R Missense 22/48 - 1
8-133935744-C-T c.4690C>T p.Q1564* Nonsense 22/48 - 1
8-133941357-T-TG c.4737dup p.I1580Dfs*16 Frameshift 23/48 - 1
8-133941374-G-T c.4753G>T p.A1585S Missense 23/48 - 1
8-133941376-T-TC c.4757dup p.V1587Cfs*9 Frameshift 23/48 - 1
8-133941398-GT-G c.4779del p.P1594Lfs*7 Frameshift 23/48 - 1
8-133941404-G-C c.4783G>C p.D1595H Missense 23/48 - 2
8-133941408-C-T c.4787C>T p.S1596F Missense 23/48 - 1
8-133941416-C-T c.4795C>T p.P1599S Missense 23/48 - 1
8-133941419-G-A c.4798G>A p.V1600M Missense 23/48 - 1
8-133941425-C-G c.4804C>G p.Q1602E Missense 23/48 - 1
8-133941434-A-AC c.4814dup p.D1606Rfs*23 SpliceDonorInsertion 23/48 - 1
8-133945809-GCA-G c.4823_4824del p.T1608Rfs*20 Frameshift 24/48 - 1
8-133945818-GAC-G c.4829_4830del p.D1610Gfs*18 Frameshift 24/48 - 1
8-133945839-CC-AG c.4850_4851delinsAG p.T1617K Missense 24/48 - 1
8-133945839-C-A c.4850C>A p.T1617N Missense 24/48 - 1
8-133945845-C-T c.4856C>T p.S1619F Missense 24/48 - 1
8-133945848-C-T c.4859C>T p.T1620M Missense 24/48 - 3
8-133945851-AC-A c.4862del p.T1621Rfs*20 Frameshift 24/48 - 2
8-133945850-A-AC c.4862dup p.E1622Gfs*7 Frameshift 24/48 - 1
8-133945851-C-T c.4862C>T p.T1621M Missense 24/48 - 1
8-133945856-C-T c.4867C>T p.P1623S Missense 24/48 - 1
8-133945857-C-T c.4868C>T p.P1623L Missense 24/48 - 2
8-133945857-C-G c.4868C>G p.P1623R Missense 24/48 - 1
8-133945865-T-TC c.4878dup p.C1627Lfs*2 Frameshift 24/48 - 1
8-133945871-G-T c.4882G>T p.D1628Y Missense 24/48 - 1
8-133945889-A-G c.4900A>G p.S1634G Missense 24/48 - 1
8-133945910-A-AC c.4922dup p.S1642Ffs*2 Frameshift 24/48 - 1
8-133945914-C-T c.4925C>T p.S1642F Missense 24/48 - 1
8-133945915-T-TG c.4927dup p.D1643Gfs*51 Frameshift 24/48 - 1
8-133948005-G-C c.4937G>C p.R1646P Missense 25/48 - 1
8-133948010-G-A c.4942G>A p.A1648T Missense 25/48 - 2
8-133948019-GAAC-G c.4951_4953del p.N1651del InFrameDeletion 25/48 - 1
8-133948024-A-AT c.4956_4957insT p.K1653* Nonsense 25/48 - 1
8-133948024-A-G c.4956A>G p.S1652= Synonymous 25/48 - 1
8-133948026-A-AG c.4960dup p.A1654Gfs*40 Frameshift 25/48 - 1
8-133948035-G-A c.4967G>A p.S1656N Missense 25/48 - 1
8-133948046-C-T c.4978C>T p.L1660F Missense 25/48 - 1
8-133948049-C-T c.4981C>T p.R1661C Missense 25/48 - 1
8-133948088-C-A c.5020C>A p.P1674T Missense 25/48 - 1
8-133948087-T-TC c.5021dup p.A1675Sfs*19 Frameshift 25/48 - 1
8-133948091-AG-A c.5023del p.A1675Lfs*4 Frameshift 25/48 - 1
8-133948102-GA-G c.5039del p.K1680Rfs*38 Frameshift 25/48 - 1
8-133951991-G-A c.5042-1605G>A - IntronicSNV - 25/47 4
8-133951991-G-C c.5042-1605G>C - IntronicSNV - 25/47 4
8-133953596-GGC-G c.5042_5043del p.G1681Afs*12 SpliceAcceptorDeletion 26/48 - 1
8-133953596-G-C c.5042G>C p.G1681A Missense 26/48 - 1
8-133953602-G-C c.5048G>C p.G1683A Missense 26/48 - 1
8-133953604-T-TC c.5052dup p.T1685Hfs*9 Frameshift 26/48 - 1
8-133953626-CG-C c.5072del p.R1691Pfs*27 Frameshift 26/48 - 1
8-133953627-CT-C c.5076del p.F1692Lfs*26 Frameshift 26/48 - 1
8-133953627-C-CT c.5076dup p.E1693* Nonsense 26/48 - 1
8-133953655-C-T c.5101C>T p.L1701F Missense 26/48 - 2
8-133953655-CT-C c.5104del p.S1702Lfs*16 Frameshift 26/48 - 1
8-133953675-C-T c.5121C>T p.P1707= Synonymous 26/48 - 1
8-133953675-C-G c.5121C>G p.P1707= Synonymous 26/48 - 1
8-133953675-C-A c.5121C>A p.P1707= Synonymous 26/48 - 1
8-133953687-CA-C c.5133del p.A1712Pfs*6 Frameshift 26/48 - 1
8-133953688-G-T c.5134G>T p.A1712S Missense 26/48 - 1
8-133953701-A-AGCCAGCTG c.5147_5148insGCCAGCTG p.N1716Kfs*5 Frameshift 26/48 - 1
8-133953712-G-A c.5158G>A p.A1720T Missense 26/48 - 1
8-133953730-CT-C c.5178del p.A1727Hfs*26 Frameshift 26/48 - 1
8-133953733-TG-T c.5179del p.A1727Hfs*26 Frameshift 26/48 - 1
8-133953733-G-GC c.5180dup p.C1728Mfs*4 Frameshift 26/48 - 1
8-133953736-T-C c.5182T>C p.C1728R Missense 26/48 - 1
8-133953738-C-A c.5184C>A p.C1728* Nonsense 26/48 - 3
8-133953740-A-C c.5186A>C p.D1729A Missense 26/48 - 1
8-133953763-TT-GC c.5209_5210delinsGC p.F1737A Missense 26/48 - 1
8-133953766-G-A c.5212G>A p.V1738I Missense 26/48 - 1
8-133953770-T-G c.5216T>G p.L1739R Missense 26/48 - 1
8-133960430-C-T c.5234-591C>T - IntronicSNV - 26/47 1
8-133960991-C-A c.5234-30C>A - IntronicSNV - 26/47 1
8-133960991-C-G c.5234-30C>G - IntronicSNV - 26/47 1
8-133960991-C-T c.5234-30C>T - IntronicSNV - 26/47 1
8-133961023-G-A c.5236G>A p.A1746T Missense 27/48 - 1
8-133961026-CA-C c.5239del p.I1747Sfs*6 Frameshift 27/48 - 1
8-133961052-C-CA c.5266dup p.S1756Kfs*6 Frameshift 27/48 - 1
8-133961057-T-TC c.5272dup p.L1758Pfs*4 Frameshift 27/48 - 1
8-133961069-A-T c.5282A>T p.N1761I Missense 27/48 - 1
8-133961071-G-A c.5284G>A p.V1762I Missense 27/48 - 1
8-133961086-GGAT-G c.5299_5301del p.D1767del InFrameDeletion 27/48 - 2
8-133961095-G-GA c.5310dup p.A1771Sfs*4 Frameshift 27/48 - 1
8-133961107-A-G c.5320A>G p.N1774D Missense 27/48 - 1
8-133961111-C-G c.5324C>G p.A1775G Missense 27/48 - 1
8-133961122-G-A c.5335G>A p.G1779S Missense 27/48 - 1
8-133961140-G-GC c.5353_5354insC p.E1785Afs*41 Frameshift 27/48 - 1
8-133961143-A-G c.5356A>G p.S1786G Missense 27/48 - 1
8-133961157-A-G c.5370A>G p.I1790M Missense 27/48 - 1
8-133961157-AT-A c.5372del p.L1791Cfs*12 Frameshift 27/48 - 1
8-133961161-C-CG c.5375dup p.L1793Sfs*33 Frameshift 27/48