ARID1A

ARID1A AT-rich interaction domain 1A

Annotation transcript: NM_006015.6

8816 unique variant annotations were identified in 2620 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-27022868-C-T c.-27C>T - 5-UTRSNV 1/20 - 1
1-27022896-T-C c.2T>C p.M1? Missense 1/20 - 1
1-27022899-C-T c.5C>T p.A2V Missense 1/20 - 1
1-27022901-G-A c.7G>A p.A3T Missense 1/20 - 1
1-27022901-G-T c.7G>T p.A3S Missense 1/20 - 1
1-27022902-C-T c.8C>T p.A3V Missense 1/20 - 1
1-27022903-G-A c.9G>A p.A3= Synonymous 1/20 - 1
1-27022904-C-G c.10C>G p.Q4E Missense 1/20 - 2
1-27022904-C-T c.10C>T p.Q4* Nonsense 1/20 - 3
1-27022906-G-A c.12G>A p.Q4= Synonymous 1/20 - 1
1-27022906-G-C c.12G>C p.Q4H Missense 1/20 - 2
1-27022906-G-T c.12G>T p.Q4H Missense 1/20 - 2
1-27022905-A-AG c.13dup p.V5Gfs*106 Frameshift 1/20 - 1
1-27022907-G-T c.13G>T p.V5F Missense 1/20 - 1
1-27022909-C-A c.15C>A p.V5= Synonymous 1/20 - 1
1-27022910-G-A c.16G>A p.A6T Missense 1/20 - 2
1-27022911-C-T c.17C>T p.A6V Missense 1/20 - 2
1-27022910-GCCCCCGCCGCCGCCAGCAGCCTGGGCAAC-G c.19_47del p.P7Afs*94 Frameshift 1/20 - 1
1-27022913-C-G c.19C>G p.P7A Missense 1/20 - 1
1-27022914-C-T c.20C>T p.P7L Missense 1/20 - 1
1-27022910-GC-G c.21del p.A8Pfs*17 Frameshift 1/20 - 1
1-27022915-C-A c.21C>A p.P7= Synonymous 1/20 - 1
1-27022915-C-G c.21C>G p.P7= Synonymous 1/20 - 1
1-27022915-C-T c.21C>T p.P7= Synonymous 1/20 - 1
1-27022916-G-A c.22G>A p.A8T Missense 1/20 - 3
1-27022916-G-T c.22G>T p.A8S Missense 1/20 - 1
1-27022917-C-G c.23C>G p.A8G Missense 1/20 - 1
1-27022917-C-T c.23C>T p.A8V Missense 1/20 - 1
1-27022919-G-A c.25G>A p.A9T Missense 1/20 - 3
1-27022920-C-T c.26C>T p.A9V Missense 1/20 - 1
1-27022922-G-A c.28G>A p.A10T Missense 1/20 - 2
1-27022922-G-C c.28G>C p.A10P Missense 1/20 - 1
1-27022922-GCC-ATG c.28_30delinsATG p.A10M Missense 1/20 - 3
1-27022922-GCC-TGG c.28_30delinsTGG p.A10W Missense 1/20 - 1
1-27022922-GC-TA c.28_29delinsTA p.A10Y Missense 1/20 - 6
1-27022922-GC-TG c.28_29delinsTG p.A10C Missense 1/20 - 5
1-27022922-GC-TT c.28_29delinsTT p.A10F Missense 1/20 - 1
1-27022922-G-T c.28G>T p.A10S Missense 1/20 - 5
1-27022923-C-G c.29C>G p.A10G Missense 1/20 - 2
1-27022912-CCCCGCCGCCGCCAGCAGCCTGGGCAA-C c.31_56del p.S11Afs*91 Frameshift 1/20 - 10
1-27022913-CCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCG-C c.31_62del p.S11Lfs*89 Frameshift 1/20 - 1
1-27022925-A-G c.31A>G p.S11G Missense 1/20 - 4
1-27022925-AG-CA c.31_32delinsCA p.S11H Missense 1/20 - 1
1-27022925-AG-CC c.31_32delinsCC p.S11P Missense 1/20 - 1
1-27022925-AGC-GAG c.31_33delinsGAG p.S11E Missense 1/20 - 5
1-27022925-AG-GA c.31_32delinsGA p.S11D Missense 1/20 - 8
1-27022925-AG-GC c.31_32delinsGC p.S11A Missense 1/20 - 23
1-27022925-AG-TT c.31_32delinsTT p.S11F Missense 1/20 - 1
1-27022925-A-T c.31A>T p.S11C Missense 1/20 - 10
1-27022926-G-A c.32G>A p.S11N Missense 1/20 - 1
1-27022925-A-C c.31A>C p.S11R Missense 1/20 - 1
1-27022927-C-A c.33C>A p.S11R Missense 1/20 - 1
1-27022927-C-G c.33C>G p.S11R Missense 1/20 - 1
1-27022928-AGC-GAG c.34_36delinsGAG p.S12E Missense 1/20 - 5
1-27022928-AG-GA c.34_35delinsGA p.S12D Missense 1/20 - 4
1-27022928-AG-GC c.34_35delinsGC p.S12A Missense 1/20 - 23
1-27022928-AG-TT c.34_35delinsTT p.S12F Missense 1/20 - 1
1-27022928-A-T c.34A>T p.S12C Missense 1/20 - 8
1-27022929-G-A c.35G>A p.S12N Missense 1/20 - 3
1-27022929-G-C c.35G>C p.S12T Missense 1/20 - 1
1-27022929-G-T c.35G>T p.S12I Missense 1/20 - 2
1-27022931-CT-GC c.37_38delinsGC p.L13A Missense 1/20 - 3
1-27022932-T-G c.38T>G p.L13R Missense 1/20 - 1
1-27022934-G-A c.40G>A p.G14S Missense 1/20 - 2
1-27022934-G-T c.40G>T p.G14C Missense 1/20 - 1
1-27022935-G-A c.41G>A p.G14D Missense 1/20 - 4
1-27022935-GC-AG c.41_42delinsAG p.G14E Missense 1/20 - 1
1-27022935-GGC-G c.41_42del p.G14Efs*96 Frameshift 1/20 - 1
1-27022938-A-C c.44A>C p.N15T Missense 1/20 - 1
1-27022939-C-T c.45C>T p.N15= Synonymous 1/20 - 1
1-27022940-C-T c.46C>T p.P16S Missense 1/20 - 5
1-27022943-C-A c.49C>A p.P17T Missense 1/20 - 2
1-27022943-C-T c.49C>T p.P17S Missense 1/20 - 5
1-27022944-C-T c.50C>T p.P17L Missense 1/20 - 4
1-27022945-G-A c.51G>A p.P17= Synonymous 1/20 - 1
1-27022945-G-C c.51G>C p.P17= Synonymous 1/20 - 1
1-27022945-G-T c.51G>T p.P17= Synonymous 1/20 - 1
1-27022946-C-A c.52C>A p.P18T Missense 1/20 - 1
1-27022946-C-G c.52C>G p.P18A Missense 1/20 - 2
1-27022946-C-T c.52C>T p.P18S Missense 1/20 - 2
1-27022947-C-T c.53C>T p.P18L Missense 1/20 - 1
1-27022949-C-A c.55C>A p.P19T Missense 1/20 - 1
1-27022949-C-G c.55C>G p.P19A Missense 1/20 - 2
1-27022949-C-T c.55C>T p.P19S Missense 1/20 - 1
1-27022950-C-A c.56C>A p.P19Q Missense 1/20 - 2
1-27022950-C-G c.56C>G p.P19R Missense 1/20 - 1
1-27022950-CG-AT c.56_57delinsAT p.P19H Missense 1/20 - 1
1-27022950-C-T c.56C>T p.P19L Missense 1/20 - 2
1-27022951-G-A c.57G>A p.P19= Synonymous 1/20 - 2
1-27022951-GC-G c.59del p.P20Rfs*5 Frameshift 1/20 - 1
1-27022952-C-CCT c.59_60insTC p.P21Rfs*5 Frameshift 1/20 - 1
1-27022953-C-T c.59C>T p.P20L Missense 1/20 - 2
1-27022939-CCCG-C c.60_62del p.P21del InFrameDeletion 1/20 - 12
1-27022954-G-A c.60G>A p.P20= Synonymous 1/20 - 1
1-27022954-G-C c.60G>C p.P20= Synonymous 1/20 - 1
1-27022954-G-T c.60G>T p.P20= Synonymous 1/20 - 1
1-27022955-GCCC-G c.61_63del p.P21del InFrameDeletion 1/20 - 4
1-27022956-C-A c.62C>A p.P21H Missense 1/20 - 1
1-27022957-C-CCCT c.63_64insCCT p.P21dup InFrameInsertion 1/20 - 1
1-27022957-C-CCCTCCT c.63_64insCCTCCT p.P20_P21dup InFrameInsertion 1/20 - 1
1-27022958-TC-AG c.64_65delinsAG p.S22R Missense 1/20 - 1
1-27022958-TCG-GAC c.64_66delinsGAC p.S22D Missense 1/20 - 1
1-27022958-T-G c.64T>G p.S22A Missense 1/20 - 2
1-27022959-C-A c.65C>A p.S22* Nonsense 1/20 - 1
1-27022959-C-G c.65C>G p.S22W Missense 1/20 - 1
1-27022959-CG-GT c.65_66delinsGT p.S22C Missense 1/20 - 1
1-27022959-C-T c.65C>T p.S22L Missense 1/20 - 1
1-27022959-C-CG c.67dup p.E23Gfs*88 Frameshift 1/20 - 1
1-27022959-CG-C c.67del p.E23Sfs*2 Frameshift 1/20 - 1
1-27022962-A-T c.68A>T p.E23V Missense 1/20 - 1
1-27022963-G-C c.69G>C p.E23D Missense 1/20 - 1
1-27022963-G-T c.69G>T p.E23D Missense 1/20 - 1
1-27022964-C-A c.70C>A p.L24M Missense 1/20 - 1
1-27022964-GC-G c.70del p.L24* Frameshift 1/20 - 1
1-27022965-T-C c.71T>C p.L24P Missense 1/20 - 1
1-27022964-C-T c.70C>T p.L24= Synonymous 1/20 - 1
1-27022966-G-A c.72G>A p.L24= Synonymous 1/20 - 1
1-27022966-G-C c.72G>C p.L24= Synonymous 1/20 - 1
1-27022966-G-T c.72G>T p.L24= Synonymous 1/20 - 1
1-27022966-GA-G c.74del p.K25Rfs*26 Frameshift 1/20 - 1
1-27022969-G-A c.75G>A p.K25= Synonymous 1/20 - 1
1-27022970-A-G c.76A>G p.K26E Missense 1/20 - 2
1-27022971-A-T c.77A>T p.K26I Missense 1/20 - 2
1-27022973-G-A c.79G>A p.A27T Missense 1/20 - 1
1-27022973-G-C c.79G>C p.A27P Missense 1/20 - 4
1-27022973-GCC-AAG c.79_81delinsAAG p.A27K Missense 1/20 - 2
1-27022973-GC-CG c.79_80delinsCG p.A27R Missense 1/20 - 4
1-27022973-GCC-TGG c.79_81delinsTGG p.A27W Missense 1/20 - 3
1-27022973-GC-TG c.79_80delinsTG p.A27C Missense 1/20 - 2
1-27022973-GC-TT c.79_80delinsTT p.A27F Missense 1/20 - 1
1-27022974-CC-AG c.80_81delinsAG p.A27E Missense 1/20 - 1
1-27022974-C-G c.80C>G p.A27G Missense 1/20 - 1
1-27022974-C-T c.80C>T p.A27V Missense 1/20 - 2
1-27022975-C-CT c.81_82insT p.E28* Nonsense 1/20 - 2
1-27022976-G-A c.82G>A p.E28K Missense 1/20 - 3
1-27022977-A-G c.83A>G p.E28G Missense 1/20 - 1
1-27022977-A-T c.83A>T p.E28V Missense 1/20 - 1
1-27022979-C-T c.85C>T p.Q29* Nonsense 1/20 - 4
1-27022981-G-T c.87G>T p.Q29H Missense 1/20 - 1
1-27022982-C-T c.88C>T p.Q30* Nonsense 1/20 - 2
1-27022983-A-G c.89A>G p.Q30R Missense 1/20 - 1
1-27022983-A-T c.89A>T p.Q30L Missense 1/20 - 1
1-27022983-CAG-C c.89_90del p.Q30Pfs*80 Frameshift 1/20 - 1
1-27022983-A-AG c.90dup p.Q31Afs*80 Frameshift 1/20 - 1
1-27022984-G-A c.90G>A p.Q30= Synonymous 1/20 - 2
1-27022984-G-C c.90G>C p.Q30H Missense 1/20 - 1
1-27022984-G-T c.90G>T p.Q30H Missense 1/20 - 1
1-27022985-C-T c.91C>T p.Q31* Nonsense 1/20 - 3
1-27022976-GAGC-G c.92_94del p.Q31del InFrameDeletion 1/20 - 2
1-27022986-A-C c.92A>C p.Q31P Missense 1/20 - 1
1-27022986-A-G c.92A>G p.Q31R Missense 1/20 - 2
1-27022987-G-A c.93G>A p.Q31= Synonymous 1/20 - 1
1-27022988-C-G c.94C>G p.R32G Missense 1/20 - 2
1-27022988-CGG-TGT c.94_96delinsTGT p.R32C Missense 1/20 - 1
1-27022988-GCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAA-G c.94_152del p.R32Gfs*59 Frameshift 1/20 - 1
1-27022989-G-A c.95G>A p.R32Q Missense 1/20 - 3
1-27022989-G-T c.95G>T p.R32L Missense 1/20 - 2
1-27022988-CGGGAG-C c.96_100del p.E33Gfs*76 Frameshift 1/20 - 1
1-27022992-A-C c.98A>C p.E33A Missense 1/20 - 1
1-27022993-G-GT c.99_100insT p.E34* Nonsense 1/20 - 1
1-27022994-G-A c.100G>A p.E34K Missense 1/20 - 1
1-27022994-GA-CT c.100_101delinsCT p.E34L Missense 1/20 - 1
1-27022994-G-T c.100G>T p.E34* Nonsense 1/20 - 1
1-27022995-A-G c.101A>G p.E34G Missense 1/20 - 1
1-27022995-A-T c.101A>T p.E34V Missense 1/20 - 1
1-27022995-GA-G c.101del p.E34Gfs*17 Frameshift 1/20 - 1
1-27022996-G-A c.102G>A p.E34= Synonymous 1/20 - 1
1-27022997-G-A c.103G>A p.A35T Missense 1/20 - 4
1-27022998-C-A c.104C>A p.A35E Missense 1/20 - 1
1-27022998-C-T c.104C>T p.A35V Missense 1/20 - 6
1-27023000-G-A c.106G>A p.G36R Missense 1/20 - 1
1-27023000-G-T c.106G>T p.G36W Missense 1/20 - 1
1-27023001-G-C c.107G>C p.G36A Missense 1/20 - 1
1-27023003-G-A c.109G>A p.G37S Missense 1/20 - 2
1-27023003-GG-AC c.109_110delinsAC p.G37T Missense 1/20 - 2
1-27023003-G-T c.109G>T p.G37C Missense 1/20 - 1
1-27022998-C-CG c.110dup p.E38Rfs*73 Frameshift 1/20 - 2
1-27022998-CG-C c.110del p.G37Afs*14 Frameshift 1/20 - 3
1-27023004-G-A c.110G>A p.G37D Missense 1/20 - 2
1-27023004-G-T c.110G>T p.G37V Missense 1/20 - 1
1-27023005-C-CA c.111_112insA p.E38Rfs*73 Frameshift 1/20 - 1
1-27023006-G-A c.112G>A p.E38K Missense 1/20 - 6
1-27023006-G-C c.112G>C p.E38Q Missense 1/20 - 1
1-27023006-G-T c.112G>T p.E38* Nonsense 1/20 - 3
1-27023007-A-C c.113A>C p.E38A Missense 1/20 - 1
1-27023007-A-G c.113A>G p.E38G Missense 1/20 - 1
1-27023008-G-GGGC c.115_116insGCG p.E38_A39insG InFrameInsertion 1/20 - 1
1-27023009-G-A c.115G>A p.A39T Missense 1/20 - 3
1-27023009-G-C c.115G>C p.A39P Missense 1/20 - 3
1-27023009-GC-AG c.115_116delinsAG p.A39R Missense 1/20 - 1
1-27023009-GC-TG c.115_116delinsTG p.A39W Missense 1/20 - 2
1-27023010-C-A c.116C>A p.A39E Missense 1/20 - 3
1-27023010-C-CTGCT c.116_117insTGCT p.A41Gfs*71 Frameshift 1/20 - 1
1-27023010-C-T c.116C>T p.A39V Missense 1/20 - 2
1-27023011-G-A c.117G>A p.A39= Synonymous 1/20 - 1
1-27023011-G-C c.117G>C p.A39= Synonymous 1/20 - 1
1-27023011-G-T c.117G>T p.A39= Synonymous 1/20 - 1
1-27023012-GC-AG c.118_119delinsAG p.A40R Missense 1/20 - 1
1-27023012-GCG-TAT c.118_120delinsTAT p.A40Y Missense 1/20 - 1
1-27023012-GCG-TTT c.118_120delinsTTT p.A40F Missense 1/20 - 1
1-27023012-GC-TG c.118_119delinsTG p.A40W Missense 1/20 - 2
1-27023012-G-T c.118G>T p.A40S Missense 1/20 - 3
1-27023013-C-G c.119C>G p.A40G Missense 1/20 - 1
1-27023013-CG-AC c.119_120delinsAC p.A40D Missense 1/20 - 1
1-27023013-C-T c.119C>T p.A40V Missense 1/20 - 1
1-27023015-G-C c.121G>C p.A41P Missense 1/20 - 2
1-27023015-GC-AA c.121_122delinsAA p.A41K Missense 1/20 - 1
1-27023015-GC-AG c.121_122delinsAG p.A41R Missense 1/20 - 1
1-27023015-GC-CA c.121_122delinsCA p.A41Q Missense 1/20 - 3
1-27023015-GCG-AAC c.121_123delinsAAC p.A41N Missense 1/20 - 3
1-27023015-GCG-ATC c.121_123delinsATC p.A41I Missense 1/20 - 1
1-27023015-GCG-TGT c.121_123delinsTGT p.A41C Missense 1/20 - 1
1-27023015-GCG-TTT c.121_123delinsTTT p.A41F Missense 1/20 - 2
1-27023015-G-T c.121G>T p.A41S Missense 1/20 - 2
1-27023016-C-G c.122C>G p.A41G Missense 1/20 - 1
1-27023016-C-T c.122C>T p.A41V Missense 1/20 - 9
1-27023017-G-A c.123G>A p.A41= Synonymous 1/20 - 1
1-27023017-G-C c.123G>C p.A41= Synonymous 1/20 - 1
1-27023017-G-T c.123G>T p.A41= Synonymous 1/20 - 1
1-27023018-G-A c.124G>A p.A42T Missense 1/20 - 3
1-27023018-G-C c.124G>C p.A42P Missense 1/20 - 5
1-27023018-GC-AG c.124_125delinsAG p.A42R Missense 1/20 - 4
1-27023018-GC-CA c.124_125delinsCA p.A42Q Missense 1/20 - 1
1-27023018-GCG-TAT c.124_126delinsTAT p.A42Y Missense 1/20 - 2
1-27023018-GCG-TGT c.124_126delinsTGT p.A42C Missense 1/20 - 1
1-27023018-GCG-TTT c.124_126delinsTTT p.A42F Missense 1/20 - 2
1-27023018-GC-TA c.124_125delinsTA p.A42* Nonsense 1/20 - 1
1-27023019-C-A c.125C>A p.A42E Missense 1/20 - 5
1-27023019-C-T c.125C>T p.A42V Missense 1/20 - 1
1-27023007-AGGC-A c.126_128del p.A45del InFrameDeletion 1/20 - 5
1-27023020-G-A c.126G>A p.A42= Synonymous 1/20 - 1
1-27023020-G-C c.126G>C p.A42= Synonymous 1/20 - 2
1-27023020-G-T c.126G>T p.A42= Synonymous 1/20 - 2
1-27023021-GCA-AAC c.127_129delinsAAC p.A43N Missense 1/20 - 2
1-27023021-GCA-TGT c.127_129delinsTGT p.A43C Missense 1/20 - 1
1-27023022-C-A c.128C>A p.A43E Missense 1/20 - 2
1-27023023-A-C c.129A>C p.A43= Synonymous 1/20 - 1
1-27023023-A-G c.129A>G p.A43= Synonymous 1/20 - 1
1-27023023-A-T c.129A>T p.A43= Synonymous 1/20 - 1
1-27023024-G-A c.130G>A p.A44T Missense 1/20 - 4
1-27023024-GCG-AAC c.130_132delinsAAC p.A44N Missense 1/20 - 1
1-27023024-GCG-CAT c.130_132delinsCAT p.A44H Missense 1/20 - 1
1-27023024-G-T c.130G>T p.A44S Missense 1/20 - 2
1-27023025-C-G c.131C>G p.A44G Missense 1/20 - 1
1-27023025-CG-AC c.131_132delinsAC p.A44D Missense 1/20 - 1
1-27023025-C-T c.131C>T p.A44V Missense 1/20 - 2
1-27023026-G-C c.132G>C p.A44= Synonymous 1/20 - 1
1-27023027-G-A c.133G>A p.A45T Missense 1/20 - 2
1-27023027-GC-AA c.133_134delinsAA p.A45N Missense 1/20 - 1
1-27023027-GC-CG c.133_134delinsCG p.A45R Missense 1/20 - 1
1-27023027-GC-TG c.133_134delinsTG p.A45C Missense 1/20 - 1
1-27023026-GGCC-G c.134_136del p.A45del InFrameDeletion 1/20 - 2
1-27023028-C-A c.134C>A p.A45D Missense 1/20 - 1
1-27023028-CC-AG c.134_135delinsAG p.A45E Missense 1/20 - 1
1-27023028-C-G c.134C>G p.A45G Missense 1/20 - 1
1-27023028-C-T c.134C>T p.A45V Missense 1/20 - 5
1-27023029-C-A c.135C>A p.A45= Synonymous 1/20 - 1
1-27023029-C-G c.135C>G p.A45= Synonymous 1/20 - 1
1-27023029-C-T c.135C>T p.A45= Synonymous 1/20 - 1
1-27023030-G-C c.136G>C p.E46Q Missense 1/20 - 1
1-27023030-G-GA c.137dup p.R47Afs*64 Frameshift 1/20 - 1
1-27023031-A-C c.137A>C p.E46A Missense 1/20 - 1
1-27023031-A-T c.137A>T p.E46V Missense 1/20 - 1
1-27023032-G-A c.138G>A p.E46= Synonymous 1/20 - 1
1-27023033-C-G c.139C>G p.R47G Missense 1/20 - 1
1-27023033-CGC-TGA c.139_141delinsTGA p.R47* Nonsense 1/20 - 1
1-27023033-CGC-TGG c.139_141delinsTGG p.R47W Missense 1/20 - 1
1-27023033-C-T c.139C>T p.R47C Missense 1/20 - 2
1-27023034-G-A c.140G>A p.R47H Missense 1/20 - 3
1-27023037-G-T c.143G>T p.G48V Missense 1/20 - 1
1-27023038-G-T c.144G>T p.G48= Synonymous 1/20 - 1
1-27023041-A-C c.147A>C p.E49D Missense 1/20 - 2
1-27023041-A-G c.147A>G p.E49= Synonymous 1/20 - 1
1-27023041-A-T c.147A>T p.E49D Missense 1/20 - 2
1-27023042-A-G c.148A>G p.M50V Missense 1/20 - 5
1-27023042-A-T c.148A>T p.M50L Missense 1/20 - 1
1-27023043-T-G c.149T>G p.M50R Missense 1/20 - 1
1-27023043-T-TGCA c.150_151insCAG p.M50_K51insQ InFrameInsertion 1/20 - 1
1-27023043-T-TGCAGCAGCA c.150_151insCAGCAGCAG p.M50_K51insQQQ InFrameInsertion 1/20 - 1
1-27023044-G-C c.150G>C p.M50I Missense 1/20 - 1
1-27023044-TG-T c.150del p.M50Ifs*51 Frameshift 1/20 - 1
1-27023047-G-C c.153G>C p.K51N Missense 1/20 - 2
1-27023048-G-A c.154G>A p.A52T Missense 1/20 - 2
1-27023048-GCA-TGT c.154_156delinsTGT p.A52C Missense 1/20 - 1
1-27023048-GCA-TTT c.154_156delinsTTT p.A52F Missense 1/20 - 1
1-27023049-CA-AC c.155_156delinsAC p.A52D Missense 1/20 - 3
1-27023049-C-G c.155C>G p.A52G Missense 1/20 - 1
1-27023049-C-T c.155C>T p.A52V Missense 1/20 - 3
1-27023050-A-G c.156A>G p.A52= Synonymous 1/20 - 2
1-27023051-G-A c.157G>A p.A53T Missense 1/20 - 1
1-27023051-GC-TT c.157_158delinsTT p.A53F Missense 1/20 - 1
1-27023051-G-T c.157G>T p.A53S Missense 1/20 - 1
1-27023052-CC-AG c.158_159delinsAG p.A53E Missense 1/20 - 1
1-27023052-C-T c.158C>T p.A53V Missense 1/20 - 1
1-27023054-G-A c.160G>A p.A54T Missense 1/20 - 1
1-27023054-GC-AA c.160_161delinsAA p.A54N Missense 1/20 - 1
1-27023054-GC-AT c.160_161delinsAT p.A54I Missense 1/20 - 1
1-27023054-GC-CA c.160_161delinsCA p.A54H Missense 1/20 - 1
1-27023054-GCC-AAG c.160_162delinsAAG p.A54K Missense 1/20 - 1
1-27023054-GC-CG c.160_161delinsCG p.A54R Missense 1/20 - 6
1-27023054-GC-CT c.160_161delinsCT p.A54L Missense 1/20 - 1
1-27023054-GCC-TAA c.160_162delinsTAA p.A54* Nonsense 1/20 - 1
1-27023054-GC-TA c.160_161delinsTA p.A54Y Missense 1/20 - 2
1-27023054-GC-TT c.160_161delinsTT p.A54F Missense 1/20 - 1
1-27023054-G-T c.160G>T p.A54S Missense 1/20 - 1
1-27023055-CC-AG c.161_162delinsAG p.A54E Missense 1/20 - 1
1-27023055-C-G c.161C>G p.A54G Missense 1/20 - 2
1-27023055-C-T c.161C>T p.A54V Missense 1/20 - 2
1-27023056-C-A c.162C>A p.A54= Synonymous 1/20 - 1
1-27023056-C-G c.162C>G p.A54= Synonymous 1/20 - 1
1-27023056-C-T c.162C>T p.A54= Synonymous 1/20 - 1
1-27023057-G-A c.163G>A p.G55R Missense 1/20 - 1
1-27023057-GGG-AGC c.163_165delinsAGC p.G55S Missense 1/20 - 1
1-27023058-G-A c.164G>A p.G55E Missense 1/20 - 1
1-27023058-G-C c.164G>C p.G55A Missense 1/20 - 1
1-27023058-G-T c.164G>T p.G55V Missense 1/20 - 1
1-27023060-C-G c.166C>G p.Q56E Missense 1/20 - 1
1-27023060-C-T c.166C>T p.Q56* Nonsense 1/20 - 4
1-27023060-GC-G c.166del p.Q56Rfs*45 Frameshift 1/20 - 1
1-27023061-A-C c.167A>C p.Q56P Missense 1/20 - 2
1-27023062-G-C c.168G>C p.Q56H Missense 1/20 - 2
1-27023062-G-T c.168G>T p.Q56H Missense 1/20 - 1
1-27023063-G-A c.169G>A p.E57K Missense 1/20 - 2
1-27023063-G-T c.169G>T p.E57* Nonsense 1/20 - 2
1-27023063-G-GAGCAGC c.170_171insGCAGCA p.E57_S58insQQ InFrameInsertion 1/20 - 1
1-27023063-G-GAGCAGCAGC c.170_171insGCAGCAGCA p.E57_S58insQQQ InFrameInsertion 1/20 - 1
1-27023064-A-C c.170A>C p.E57A Missense 1/20 - 2
1-27023064-A-G c.170A>G p.E57G Missense 1/20 - 1
1-27023065-A-G c.171A>G p.E57= Synonymous 1/20 - 2
1-27023066-AGC-TGG c.172_174delinsTGG p.S58W Missense 1/20 - 1
1-27023067-G-C c.173G>C p.S58T Missense 1/20 - 1
1-27023066-AGC-A c.174_175del p.S58Rfs*52 Frameshift 1/20 - 1
1-27023067-GCGAGGGC-G c.175_181del p.E59Pfs*40 Frameshift 1/20 - 1
1-27023069-G-A c.175G>A p.E59K Missense 1/20 - 2
1-27023069-G-T c.175G>T p.E59* Nonsense 1/20 - 2
1-27023070-GAGGGCCC-G c.176_182del p.E59Afs*40 Frameshift 1/20 - 1
1-27023071-AGGGC-A c.177_180del p.E59Dfs*41 Frameshift 1/20 - 1
1-27023073-G-A c.179G>A p.G60D Missense 1/20 - 1
1-27023073-G-C c.179G>C p.G60A Missense 1/20 - 1
1-27023072-GGCCCCGCCGT-G c.180_189del p.P61Gfs*37 Frameshift 1/20 - 1
1-27023074-C-A c.180C>A p.G60= Synonymous 1/20 - 1
1-27023078-G-A c.184G>A p.A62T Missense 1/20 - 4
1-27023078-G-C c.184G>C p.A62P Missense 1/20 - 3
1-27023078-GC-AA c.184_185delinsAA p.A62N Missense 1/20 - 1
1-27023078-GC-TA c.184_185delinsTA p.A62Y Missense 1/20 - 1
1-27023078-GC-TG c.184_185delinsTG p.A62C Missense 1/20 - 1
1-27023075-CCCG-C c.185_187del p.A62del InFrameDeletion 1/20 - 1
1-27023079-C-A c.185C>A p.A62D Missense 1/20 - 1
1-27023079-CC-AG c.185_186delinsAG p.A62E Missense 1/20 - 1
1-27023079-C-T c.185C>T p.A62V Missense 1/20 - 2
1-27023075-CCCGCCGTGGGGCCG-C c.186_199del p.V63Afs*43 Frameshift 1/20 - 1
1-27023080-C-A c.186C>A p.A62= Synonymous 1/20 - 2
1-27023080-C-G c.186C>G p.A62= Synonymous 1/20 - 2
1-27023080-C-T c.186C>T p.A62= Synonymous 1/20 - 2
1-27023081-G-A c.187G>A p.V63M Missense 1/20 - 3
1-27023081-G-T c.187G>T p.V63L Missense 1/20 - 1
1-27023084-G-A c.190G>A p.G64R Missense 1/20 - 1
1-27023084-G-C c.190G>C p.G64R Missense 1/20 - 1
1-27023084-G-T c.190G>T p.G64W Missense 1/20 - 2
1-27023085-G-C c.191G>C p.G64A Missense 1/20 - 1
1-27023087-C-G c.193C>G p.P65A Missense 1/20 - 2
1-27023086-GC-G c.194del p.P65Rfs*36 Frameshift 1/20 - 1
1-27023088-C-T c.194C>T p.P65L Missense 1/20 - 1
1-27023089-G-A c.195G>A p.P65= Synonymous 1/20 - 2
1-27023089-G-C c.195G>C p.P65= Synonymous 1/20 - 2
1-27023089-G-T c.195G>T p.P65= Synonymous 1/20 - 2
1-27023090-C-G c.196C>G p.P66A Missense 1/20 - 1
1-27023090-C-T c.196C>T p.P66S Missense 1/20 - 3
1-27023091-C-T c.197C>T p.P66L Missense 1/20 - 2
1-27023092-G-A c.198G>A p.P66= Synonymous 1/20 - 1
1-27023092-G-C c.198G>C p.P66= Synonymous 1/20 - 1
1-27023092-G-T c.198G>T p.P66= Synonymous 1/20 - 2
1-27023093-C-T c.199C>T p.Q67* Nonsense 1/20 - 3
1-27023094-A-C c.200A>C p.Q67P Missense 1/20 - 3
1-27023094-A-G c.200A>G p.Q67R Missense 1/20 - 1
1-27023094-A-T c.200A>T p.Q67L Missense 1/20 - 1
1-27023095-G-A c.201G>A p.Q67= Synonymous 1/20 - 1
1-27023096-C-A c.202C>A p.P68T Missense 1/20 - 1
1-27023096-C-T c.202C>T p.P68S Missense 1/20 - 1
1-27023096-GCC-G c.202_203del p.P68Afs*42 Frameshift 1/20 - 1
1-27023097-C-A c.203C>A p.P68Q Missense 1/20 - 1
1-27023097-C-T c.203C>T p.P68L Missense 1/20 - 3
1-27023098-G-A c.204G>A p.P68= Synonymous 1/20 - 2
1-27023098-G-C c.204G>C p.P68= Synonymous 1/20 - 1
1-27023098-G-T c.204G>T p.P68= Synonymous 1/20 - 1
1-27023100-T-A c.206T>A p.L69Q Missense 1/20 - 1
1-27023100-T-G c.206T>G p.L69R Missense 1/20 - 2
1-27023099-C-T c.205C>T p.L69= Synonymous 1/20 - 3
1-27023101-G-A c.207G>A p.L69= Synonymous 1/20 - 3
1-27023101-G-C c.207G>C p.L69= Synonymous 1/20 - 3
1-27023101-G-T c.207G>T p.L69= Synonymous 1/20 - 3
1-27023102-G-A c.208G>A p.G70R Missense 1/20 - 1
1-27023102-GGA-AGC c.208_210delinsAGC p.G70S Missense 1/20 - 1
1-27023102-G-T c.208G>T p.G70* Nonsense 1/20 - 2
1-27023100-TG-T c.209del p.G70Efs*31 Frameshift 1/20 - 1
1-27023103-G-A c.209G>A p.G70E Missense 1/20 - 2
1-27023103-G-T c.209G>T p.G70V Missense 1/20 - 1
1-27023105-AAAG-A c.211_213del p.K71del InFrameDeletion 1/20 - 1
1-27023105-A-C c.211A>C p.K71Q Missense 1/20 - 2
1-27023105-A-G c.211A>G p.K71E Missense 1/20 - 2
1-27023103-GA-G c.212del p.K71Rfs*30 Frameshift 1/20 - 1
1-27023106-A-G c.212A>G p.K71R Missense 1/20 - 1
1-27023107-G-C c.213G>C p.K71N Missense 1/20 - 2
1-27023107-G-T c.213G>T p.K71N Missense 1/20 - 1
1-27023108-G-A c.214G>A p.E72K Missense 1/20 - 3
1-27023108-GGAGC-G c.214_217del p.E72Cfs*28 Frameshift 1/20 - 1
1-27023108-G-T c.214G>T p.E72* Nonsense 1/20 - 2
1-27023109-A-C c.215A>C p.E72A Missense 1/20 - 1
1-27023109-A-G c.215A>G p.E72G Missense 1/20 - 3
1-27023110-AG-A c.216del p.E72Dfs*29 Frameshift 1/20 - 2
1-27023110-G-C c.216G>C p.E72D Missense 1/20 - 4
1-27023110-G-T c.216G>T p.E72D Missense 1/20 - 3
1-27023111-CT-GC c.217_218delinsGC p.L73A Missense 1/20 - 1
1-27023111-GC-G c.217del p.L73Cfs*28 Frameshift 1/20 - 1
1-27023112-T-C c.218T>C p.L73P Missense 1/20 - 1
1-27023114-C-T c.220C>T p.Q74* Nonsense 1/20 - 9
1-27023114-GCA-G c.220_221del p.Q74Gfs*36 Frameshift 1/20 - 1
1-27023115-A-G c.221A>G p.Q74R Missense 1/20 - 1
1-27023116-G-C c.222G>C p.Q74H Missense 1/20 - 1
1-27023116-G-T c.222G>T p.Q74H Missense 1/20 - 1
1-27023117-G-A c.223G>A p.D75N Missense 1/20 - 1
1-27023117-G-C c.223G>C p.D75H Missense 1/20 - 2
1-27023118-A-C c.224A>C p.D75A Missense 1/20 - 1
1-27023118-A-G c.224A>G p.D75G Missense 1/20 - 1
1-27023118-A-T c.224A>T p.D75V Missense 1/20 - 1
1-27023118-GA-G c.224del p.D75Afs*26 Frameshift 1/20 - 1
1-27023117-GACGGGGCCGAGAGCA-G c.225_239del p.A77_G81del InFrameDeletion 1/20 - 1
1-27023119-C-G c.225C>G p.D75E Missense 1/20 - 1
1-27023120-G-A c.226G>A p.G76R Missense 1/20 - 1
1-27023121-G-A c.227G>A p.G76E Missense 1/20 - 2
1-27023121-G-T c.227G>T p.G76V Missense 1/20 - 2
1-27023123-G-C c.229G>C p.A77P Missense 1/20 - 2
1-27023123-GCC-CAA c.229_231delinsCAA p.A77Q Missense 1/20 - 1
1-27023123-GCC-TAA c.229_231delinsTAA p.A77* Nonsense 1/20 - 2
1-27023123-GCC-TGG c.229_231delinsTGG p.A77W Missense 1/20 - 1
1-27023123-GC-TG c.229_230delinsTG p.A77C Missense 1/20 - 1
1-27023123-G-T c.229G>T p.A77S Missense 1/20 - 1
1-27023124-CC-AG c.230_231delinsAG p.A77E Missense 1/20 - 4
1-27023124-C-G c.230C>G p.A77G Missense 1/20 - 3
1-27023124-C-T c.230C>T p.A77V Missense 1/20 - 2
1-27023126-G-A c.232G>A p.E78K Missense 1/20 - 3
1-27023126-G-T c.232G>T p.E78* Nonsense 1/20 - 6
1-27023129-AG-CT c.235_236inv p.S79L Missense 1/20 - 1
1-27023129-AG-GC c.235_236delinsGC p.S79A Missense 1/20 - 1
1-27023129-AG-TT c.235_236delinsTT p.S79F Missense 1/20 - 1
1-27023129-A-T c.235A>T p.S79C Missense 1/20 - 1
1-27023130-G-C c.236G>C p.S79T Missense 1/20 - 1
1-27023132-A-G c.238A>G p.N80D Missense 1/20 - 1
1-27023132-A-T c.238A>T p.N80Y Missense 1/20 - 1
1-27023133-A-C c.239A>C p.N80T Missense 1/20 - 1
1-27023133-A-G c.239A>G p.N80S Missense 1/20 - 3
1-27023134-T-C c.240T>C p.N80= Synonymous 1/20 - 1
1-27023135-G-A c.241G>A p.G81R Missense 1/20 - 2
1-27023135-GGG-AGC c.241_243delinsAGC p.G81S Missense 1/20 - 3
1-27023135-G-T c.241G>T p.G81W Missense 1/20 - 1
1-27023136-G-A c.242G>A p.G81E Missense 1/20 - 1
1-27023136-G-T c.242G>T p.G81V Missense 1/20 - 1
1-27023137-G-GC c.243_244insC p.G82Rfs*29 Frameshift 1/20 - 1
1-27023138-G-A c.244G>A p.G82S Missense 1/20 - 3
1-27023134-TG-T c.245del p.G82Vfs*19 Frameshift 1/20 - 1
1-27023134-T-TG c.245dup p.G83Wfs*28 Frameshift 1/20 - 1
1-27023139-G-A c.245G>A p.G82D Missense 1/20 - 4
1-27023139-G-C c.245G>C p.G82A Missense 1/20 - 1
1-27023139-G-T c.245G>T p.G82V Missense 1/20 - 1
1-27023137-GGGTGGC-G c.246_251del p.G86_G87del InFrameDeletion 1/20 - 1
1-27023140-T-A c.246T>A p.G82= Synonymous 1/20 - 1
1-27023140-T-C c.246T>C p.G82= Synonymous 1/20 - 1
1-27023140-T-G c.246T>G p.G82= Synonymous 1/20 - 1
1-27023141-G-A c.247G>A p.G83S Missense 1/20 - 1
1-27023141-G-C c.247G>C p.G83R Missense 1/20 - 1
1-27023142-G-A c.248G>A p.G83D Missense 1/20 - 2
1-27023143-C-A c.249C>A p.G83= Synonymous 1/20 - 3
1-27023143-C-G c.249C>G p.G83= Synonymous 1/20 - 3
1-27023143-C-T c.249C>T p.G83= Synonymous 1/20 - 4
1-27023144-G-C c.250G>C p.G84R Missense 1/20 - 1
1-27023145-G-A c.251G>A p.G84D Missense 1/20 - 3
1-27023145-GC-AG c.251_252delinsAG p.G84E Missense 1/20 - 1
1-27023145-G-GC c.252dup p.G85Rfs*26 Frameshift 1/20 - 1
1-27023146-C-A c.252C>A p.G84= Synonymous 1/20 - 1
1-27023146-C-G c.252C>G p.G84= Synonymous 1/20 - 1
1-27023146-C-T c.252C>T p.G84= Synonymous 1/20 - 1
1-27023146-GCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGA-G c.252_310del p.G85Rfs*6 Frameshift 1/20 - 1
1-27023148-G-A c.254G>A p.G85D Missense 1/20 - 1
1-27023151-G-A c.257G>A p.G86D Missense 1/20 - 1
1-27023151-G-T c.257G>T p.G86V Missense 1/20 - 1
1-27023140-TGGC-T c.258_260del p.G87del InFrameDeletion 1/20 - 4
1-27023141-GGCGGCGGCGGCGGAGCCGGCA-G c.258_278del p.G87_G93del InFrameDeletion 1/20 - 2
1-27023152-C-G c.258C>G p.G86= Synonymous 1/20 - 1
1-27023153-G-T c.259G>T p.G87* Nonsense 1/20 - 3
1-27023152-CGGA-C c.260_262del p.G87del InFrameDeletion 1/20 - 1
1-27023154-G-A c.260G>A p.G87E Missense 1/20 - 2
1-27023144-GGCGGCGGCGGAGCCGGCA-G c.261_278del p.A88_G93del InFrameDeletion 1/20 - 3
1-27023156-AGCCGGCAGCGGCGGCGGG-A c.262_279del p.A88_G93del InFrameDeletion 1/20 - 1
1-27023156-G-A c.262G>A p.A88T Missense 1/20 - 1
1-27023156-G-C c.262G>C p.A88P Missense 1/20 - 1
1-27023156-GCC-TGG c.262_264delinsTGG p.A88W Missense 1/20 - 1
1-27023156-GC-TA c.262_263delinsTA p.A88Y Missense 1/20 - 1
1-27023156-GC-TG c.262_263delinsTG p.A88C Missense 1/20 - 1
1-27023156-G-T c.262G>T p.A88S Missense 1/20 - 1
1-27023157-CC-AG c.263_264delinsAG p.A88E Missense 1/20 - 1
1-27023157-C-G c.263C>G p.A88G Missense 1/20 - 1
1-27023157-C-T c.263C>T p.A88V Missense 1/20 - 2
1-27023158-C-A c.264C>A p.A88= Synonymous 1/20 - 3
1-27023158-C-G c.264C>G p.A88= Synonymous 1/20 - 3
1-27023158-C-T c.264C>T p.A88= Synonymous 1/20 - 3
1-27023155-AGCCGGCAGCGGCGGCGG-A c.265_281del p.G89Rfs*16 Frameshift 1/20 - 1
1-27023159-G-A c.265G>A p.G89S Missense 1/20 - 1
1-27023159-G-C c.265G>C p.G89R Missense 1/20 - 1
1-27023160-G-A c.266G>A p.G89D Missense 1/20 - 3
1-27023160-G-T c.266G>T p.G89V Missense 1/20 - 1
1-27023156-GCCGGCAGCGGCGGCGGGC-G c.268_285del p.S90_G95del InFrameDeletion 1/20 - 1
1-27023159-GGCAGCGGCGGCGGGCCCGGC-G c.268_287del p.S90Gfs*14 Frameshift 1/20 - 1
1-27023162-A-G c.268A>G p.S90G Missense 1/20 - 15
1-27023162-A-T c.268A>T p.S90C Missense 1/20 - 1
1-27023163-G-A c.269G>A p.S90N Missense 1/20 - 1
1-27023164-C-G c.270C>G p.S90R Missense 1/20 - 1
1-27023166-G-C c.272G>C p.G91A Missense 1/20 - 2
1-27023168-G-A c.274G>A p.G92S Missense 1/20 - 1
1-27023169-G-A c.275G>A p.G92D Missense 1/20 - 1
1-27023169-G-C c.275G>C p.G92A Missense 1/20 - 1
1-27023162-AGCG-A c.276_278del p.G93del InFrameDeletion 1/20 - 1
1-27023171-CGGG-C c.277_279del p.G93del InFrameDeletion 1/20 - 1
1-27023171-G-C c.277G>C p.G93R Missense 1/20 - 1
1-27023171-G-T c.277G>T p.G93W Missense 1/20 - 1
1-27023172-G-A c.278G>A p.G93E Missense 1/20 - 1
1-27023172-G-C c.278G>C p.G93A Missense 1/20 - 2
1-27023169-GCGGGCCCGGCGCGGAGC-G c.279_295del p.G95Efs*10 Frameshift 1/20 - 1
1-27023174-C-G c.280C>G p.P94A Missense 1/20 - 2
1-27023174-C-T c.280C>T p.P94S Missense 1/20 - 2
1-27023175-C-A c.281C>A p.P94H Missense 1/20 - 2
1-27023175-C-T c.281C>T p.P94L Missense 1/20 - 4
1-27023173-GCCCGGCGCGGAGCCGGA-G c.282_298del p.G95Efs*10 Frameshift 1/20 - 2
1-27023173-GC-G c.282del p.G95Afs*6 Frameshift 1/20 - 1
1-27023168-GGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAAC-G c.283_326del p.G95* Frameshift 1/20 - 1
1-27023177-G-A c.283G>A p.G95S Missense 1/20 - 1
1-27023177-GGC-TGA c.283_285delinsTGA p.G95* Nonsense 1/20 - 1
1-27023178-G-A c.284G>A p.G95D Missense 1/20 - 1
1-27023174-CCCGGCGCGGAG-C c.285_295del p.A96Pfs*11 Frameshift 1/20 - 1
1-27023179-C-A c.285C>A p.G95= Synonymous 1/20 - 1
1-27023179-C-G c.285C>G p.G95= Synonymous 1/20 - 1
1-27023179-C-T c.285C>T p.G95= Synonymous 1/20 - 1
1-27023180-G-A c.286G>A p.A96T Missense 1/20 - 1
1-27023180-G-T c.286G>T p.A96S Missense 1/20 - 1
1-27023181-C-A c.287C>A p.A96E Missense 1/20 - 1
1-27023182-G-GC c.288_289insC p.E97Rfs*14 Frameshift 1/20 - 1
1-27023183-G-A c.289G>A p.E97K Missense 1/20 - 1
1-27023183-G-T c.289G>T p.E97* Nonsense 1/20 - 1
1-27023184-A-G c.290A>G p.E97G Missense 1/20 - 2
1-27023184-A-T c.290A>T p.E97V Missense 1/20 - 1
1-27023185-G-A c.291G>A p.E97= Synonymous 1/20 - 1
1-27023185-G-C c.291G>C p.E97D Missense 1/20 - 1
1-27023185-G-T c.291G>T p.E97D Missense 1/20 - 1
1-27023186-C-T c.292C>T p.P98S Missense 1/20 - 1
1-27023187-C-T c.293C>T p.P98L Missense 1/20 - 3
1-27023188-G-T c.294G>T p.P98= Synonymous 1/20 - 1
1-27023189-GA-TT c.295_296delinsTT p.D99F Missense 1/20 - 1
1-27023189-G-C c.295G>C p.D99H Missense 1/20 - 1
1-27023189-G-T c.295G>T p.D99Y Missense 1/20 - 2
1-27023190-A-G c.296A>G p.D99G Missense 1/20 - 1
1-27023192-C-T c.298C>T p.L100= Synonymous 1/20 - 3
1-27023192-CTG-ATC c.298_300delinsATC p.L100I Missense 1/20 - 1
1-27023193-T-A c.299T>A p.L100Q Missense 1/20 - 1
1-27023194-G-A c.300G>A p.L100= Synonymous 1/20 - 2
1-27023194-G-C c.300G>C p.L100= Synonymous 1/20 - 1
1-27023194-G-T c.300G>T p.L100= Synonymous 1/20 - 1
1-27023194-GA-G c.302del p.K101Rfs*13 Frameshift 1/20 - 1
1-27023197-G-A c.303G>A p.K101= Synonymous 1/20 - 1
1-27023197-G-C c.303G>C p.K101N Missense 1/20 - 1
1-27023197-G-T c.303G>T p.K101N Missense 1/20 - 1
1-27023199-A-G c.305A>G p.N102S Missense 1/20 - 1
1-27023199-A-T c.305A>T p.N102I Missense 1/20 - 1
1-27023200-AC-A c.306del p.S103Rfs*11 Frameshift 1/20 - 1
1-27023200-C-A c.306C>A p.N102K Missense 1/20 - 1
1-27023200-C-G c.306C>G p.N102K Missense 1/20 - 3
1-27023201-TC-AG c.307_308delinsAG p.S103R Missense 1/20 - 1
1-27023202-C-A c.308C>A p.S103* Nonsense 1/20 - 1
1-27023202-C-G c.308C>G p.S103W Missense 1/20 - 5
1-27023202-C-T c.308C>T p.S103L Missense 1/20 - 2
1-27023203-CG-C c.309del p.N104Tfs*10 Frameshift 1/20 - 1
1-27023205-A-C c.311A>C p.N104T Missense 1/20 - 1
1-27023205-A-G c.311A>G p.N104S Missense 1/20 - 2
1-27023206-C-A c.312C>A p.N104K Missense 1/20 - 1
1-27023206-C-G c.312C>G p.N104K Missense 1/20 - 2
1-27023206-C-T c.312C>T p.N104= Synonymous 1/20 - 2
1-27023207-G-A c.313G>A p.G105R Missense 1/20 - 3
1-27023207-G-C c.313G>C p.G105R Missense 1/20 - 3
1-27023208-G-A c.314G>A p.G105E Missense 1/20 - 2
1-27023208-G-T c.314G>T p.G105V Missense 1/20 - 3
1-27023206-CG-C c.315del p.N106Tfs*8 Frameshift 1/20 - 1
1-27023207-GGGAACGCGGGCCCTAGGCCC-G c.315_334del p.N106Pfs*4 Frameshift 1/20 - 1
1-27023209-G-GT c.315_316insT p.N106* Nonsense 1/20 - 1
1-27023208-GGAACGCGGGCCCTAGGCCC-G c.316_334del p.N106Pfs*2 Frameshift 1/20 - 1
1-27023210-AA-CC c.316_317delinsCC p.N106P Missense 1/20 - 1
1-27023210-AA-GC c.316_317delinsGC p.N106A Missense 1/20 - 1
1-27023210-A-G c.316A>G p.N106D Missense 1/20 - 1
1-27023209-G-GA c.317dup p.N106Kfs*5 Frameshift 1/20 - 2
1-27023211-A-C c.317A>C p.N106T Missense 1/20 - 1
1-27023211-A-G c.317A>G p.N106S Missense 1/20 - 1
1-27023210-AACGCGGGCCCT-A c.318_328del p.N106Kfs*7 Frameshift 1/20 - 1
1-27023212-C-T c.318C>T p.N106= Synonymous 1/20 - 2
1-27023212-C-CG c.319dup p.A107Gfs*4 Frameshift 1/20 - 1
1-27023213-CG-C c.319del p.A107Rfs*7 Frameshift 1/20 - 1
1-27023213-G-C c.319G>C p.A107P Missense 1/20 - 1
1-27023214-C-A c.320C>A p.A107E Missense 1/20 - 1
1-27023214-C-T c.320C>T p.A107V Missense 1/20 - 1
1-27023216-G-A c.322G>A p.G108S Missense 1/20 - 3
1-27023217-G-A c.323G>A p.G108D Missense 1/20 - 1
1-27023218-GCCCTA-G c.324_328del p.P109Afs*6 Frameshift 1/20 - 1
1-27023219-C-T c.325C>T p.P109S Missense 1/20 - 1
1-27023217-G-GC c.326dup p.R110* Nonsense 1/20 - 1
1-27023220-C-T c.326C>T p.P109L Missense 1/20 - 2
1-27023215-GGGCCCTA-G c.327_333del p.R110Pfs*2 Frameshift 1/20 - 1
1-27023216-GGCCCTAGGCCC-G c.328_338del p.R110Efs*3 Frameshift 1/20 - 1
1-27023222-AG-CC c.328_329delinsCC p.R110P Missense 1/20 - 1
1-27023222-AG-CT c.328_329inv p.R110L Missense 1/20 - 1
1-27023222-AGG-TGT c.328_330delinsTGT p.R110C Missense 1/20 - 1
1-27023222-AG-TA c.328_329delinsTA p.R110* Nonsense 1/20 - 1
1-27023222-A-T c.328A>T p.R110W Missense 1/20 - 1
1-27023223-G-A c.329G>A p.R110K Missense 1/20 - 1
1-27023223-G-C c.329G>C p.R110T Missense 1/20 - 1
1-27023223-G-T c.329G>T p.R110M Missense 1/20 - 2
1-27023222-A-C c.328A>C p.R110= Synonymous 1/20 - 2
1-27023224-G-A c.330G>A p.R110= Synonymous 1/20 - 2
1-27023224-GGC-G c.330_331del p.R110Sfs*6 Frameshift 1/20 - 1
1-27023225-C-T c.331C>T p.P111S Missense 1/20 - 1
1-27023226-C-A c.332C>A p.P111H Missense 1/20 - 1
1-27023226-C-G c.332C>G p.P111R Missense 1/20 - 1
1-27023226-C-T c.332C>T p.P111L Missense 1/20 - 2
1-27023227-C-A c.333C>A p.P111= Synonymous 1/20 - 1
1-27023227-C-G c.333C>G p.P111= Synonymous 1/20 - 1
1-27023227-C-T c.333C>T p.P111= Synonymous 1/20 - 1
1-27023225-CCCG-C c.334_336del p.A112del InFrameDeletion 1/20 - 1
1-27023228-G-C c.334G>C p.A112P Missense 1/20 - 1
1-27023229-C-G c.335C>G p.A112G Missense 1/20 - 1
1-27023229-C-T c.335C>T p.A112V Missense 1/20 - 1
1-27023228-GC-G c.337del p.L113* Frameshift 1/20 - 1
1-27023231-C-A c.337C>A p.L113M Missense 1/20 - 1
1-27023232-T-A c.338T>A p.L113Q Missense 1/20 - 1
1-27023232-T-C c.338T>C p.L113P Missense 1/20 - 1
1-27023231-C-T c.337C>T p.L113= Synonymous 1/20 - 1
1-27023233-G-A c.339G>A p.L113= Synonymous 1/20 - 1
1-27023233-G-C c.339G>C p.L113= Synonymous 1/20 - 1
1-27023233-G-T c.339G>T p.L113= Synonymous 1/20 - 1
1-27023233-TG-T c.339del p.N114Tfs*118 Frameshift 1/20 - 1
1-27023235-A-C c.341A>C p.N114T Missense 1/20 - 1
1-27023235-A-G c.341A>G p.N114S Missense 1/20 - 2
1-27023236-C-CT c.342_343insT p.N115* Nonsense 1/20 - 1
1-27023237-A-C c.343A>C p.N115H Missense 1/20 - 1
1-27023237-A-G c.343A>G p.N115D Missense 1/20 - 1
1-27023238-A-G c.344A>G p.N115S Missense 1/20 - 1
1-27023238-ATAACC-A c.346_350del p.N116Hfs*282 Frameshift 1/20 - 1
1-27023240-A-C c.346A>C p.N116H Missense 1/20 - 1
1-27023239-TA-T c.347del p.N116Tfs*116 Frameshift 1/20 - 1
1-27023243-C-T c.349C>T p.L117F Missense 1/20 - 1
1-27023244-T-C c.350T>C p.L117P Missense 1/20 - 2
1-27023245-C-A c.351C>A p.L117= Synonymous 1/20 - 2
1-27023245-C-G c.351C>G p.L117= Synonymous 1/20 - 2
1-27023245-C-T c.351C>T p.L117= Synonymous 1/20 - 2
1-27023246-A-C c.352A>C p.T118P Missense 1/20 - 13
1-27023246-A-G c.352A>G p.T118A Missense 1/20 - 1
1-27023246-A-T c.352A>T p.T118S Missense 1/20 - 1
1-27023246-CA-C c.352del p.T118Rfs*114 Frameshift 1/20 - 2
1-27023246-CACGGAGCCGCCCGGCGGCG-C c.352_370del p.T118Afs*108 Frameshift 1/20 - 1
1-27023249-G-A c.355G>A p.E119K Missense 1/20 - 1
1-27023249-G-C c.355G>C p.E119Q Missense 1/20 - 1
1-27023249-G-T c.355G>T p.E119* Nonsense 1/20 - 2
1-27023250-A-C c.356A>C p.E119A Missense 1/20 - 1
1-27023252-C-T c.358C>T p.P120S Missense 1/20 - 10
1-27023250-AGCCGCCCGGCGGCGGCGGTG-A c.359_378del p.P120Rfs*273 Frameshift 1/20 - 1
1-27023253-C-A c.359C>A p.P120Q Missense 1/20 - 2
1-27023253-C-G c.359C>G p.P120R Missense 1/20 - 2
1-27023253-C-T c.359C>T p.P120L Missense 1/20 - 2
1-27023252-CCG-C c.360_361del p.P121Rfs*278 Frameshift 1/20 - 1
1-27023255-C-T c.361C>T p.P121S Missense 1/20 - 1
1-27023256-C-T c.362C>T p.P121L Missense 1/20 - 1
1-27023258-G-T c.364G>T p.G122C Missense 1/20 - 2
1-27023259-G-T c.365G>T p.G122V Missense 1/20 - 1
1-27023261-G-A c.367G>A p.G123S Missense 1/20 - 3
1-27023261-G-C c.367G>C p.G123R Missense 1/20 - 1
1-27023261-G-T c.367G>T p.G123C Missense 1/20 - 1
1-27023260-CG-C c.368del p.G123Afs*109 Frameshift 1/20 - 1
1-27023262-G-T c.368G>T p.G123V Missense 1/20 - 1
1-27023264-G-A c.370G>A p.G124S Missense 1/20 - 1
1-27023264-G-C c.370G>C p.G124R Missense 1/20 - 2
1-27023265-G-A c.371G>A p.G124D Missense 1/20 - 1
1-27023265-G-C c.371G>C p.G124A Missense 1/20 - 2
1-27023256-C-CCGG c.372_374dup p.G127dup InFrameInsertion 1/20 - 1
1-27023256-CCGG-C c.372_374del p.G127del InFrameDeletion 1/20 - 1
1-27023267-G-A c.373G>A p.G125S Missense 1/20 - 2
1-27023267-G-C c.373G>C p.G125R Missense 1/20 - 2
1-27023266-CG-C c.374del p.G125Vfs*107 Frameshift 1/20 - 1
1-27023270-G-A c.376G>A p.G126S Missense 1/20 - 2
1-27023271-G-A c.377G>A p.G126D Missense 1/20 - 2
1-27023274-G-A c.380G>A p.G127D Missense 1/20 - 2
1-27023276-A-G c.382A>G p.S128G Missense 1/20 - 1
1-27023276-AG-TT c.382_383delinsTT p.S128F Missense 1/20 - 2
1-27023276-A-C c.382A>C p.S128R Missense 1/20 - 1
1-27023278-C-A c.384C>A p.S128R Missense 1/20 - 1
1-27023278-C-CT c.384_385insT p.S129* Nonsense 1/20 - 1
1-27023278-C-G c.384C>G p.S128R Missense 1/20 - 1
1-27023279-A-G c.385A>G p.S129G Missense 1/20 - 1
1-27023280-G-A c.386G>A p.S129N Missense 1/20 - 1
1-27023277-GCAGCGATGGGGTGGGGGCGCCTCCTCACT-G c.388_416del p.D130Rfs*260 Frameshift 1/20 - 1
1-27023282-G-A c.388G>A p.D130N Missense 1/20 - 1
1-27023282-G-C c.388G>C p.D130H Missense 1/20 - 1
1-27023282-G-T c.388G>T p.D130Y Missense 1/20 - 1
1-27023284-T-C c.390T>C p.D130= Synonymous 1/20 - 1
1-27023284-T-G c.390T>G p.D130E Missense 1/20 - 1
1-27023285-G-A c.391G>A p.G131R Missense 1/20 - 2
1-27023285-G-C c.391G>C p.G131R Missense 1/20 - 1
1-27023286-G-A c.392G>A p.G131E Missense 1/20 - 1
1-27023286-GG-AC c.392_393delinsAC p.G131D Missense 1/20 - 1
1-27023284-TG-T c.394del p.V132Wfs*100 Frameshift 1/20 - 2
1-27023288-G-A c.394G>A p.V132M Missense 1/20 - 2
1-27023283-ATGGGG-A c.395_399del p.V132Gfs*266 Frameshift 1/20 - 1
1-27023288-G-GT c.395dup p.A134Gfs*266 Frameshift 1/20 - 1
1-27023289-GT-G c.395del p.V132Gfs*100 Frameshift 1/20 - 1
1-27023290-G-C c.396G>C p.V132= Synonymous 1/20 - 1
1-27023292-G-C c.398G>C p.G133A Missense 1/20 - 1
1-27023292-GG-AC c.398_399delinsAC p.G133D Missense 1/20 - 1
1-27023292-G-T c.398G>T p.G133V Missense 1/20 - 1
1-27023289-TG-T c.400del p.A134Rfs*98 Frameshift 1/20 - 3
1-27023294-G-A c.400G>A p.A134T Missense 1/20 - 2
1-27023295-C-T c.401C>T p.A134V Missense 1/20 - 4
1-27023297-C-T c.403C>T p.P135S Missense 1/20 - 1
1-27023298-C-T c.404C>T p.P135L Missense 1/20 - 3
1-27023300-C-A c.406C>A p.P136T Missense 1/20 - 4
1-27023300-C-G c.406C>G p.P136A Missense 1/20 - 1
1-27023300-C-T c.406C>T p.P136S Missense 1/20 - 1
1-27023303-C-G c.409C>G p.H137D Missense 1/20 - 1
1-27023303-C-T c.409C>T p.H137Y Missense 1/20 - 2
1-27023300-CCTCA-C c.411_414del p.H137Qfs*94 Frameshift 1/20 - 2
1-27023306-T-C c.412T>C p.S138P Missense 1/20 - 1
1-27023307-C-A c.413C>A p.S138* Nonsense 1/20 - 7
1-27023307-CA-GT c.413_414delinsGT p.S138C Missense 1/20 - 1
1-27023307-C-G c.413C>G p.S138* Nonsense 1/20 - 10
1-27023307-C-T c.413C>T p.S138L Missense 1/20 - 1
1-27023308-A-G c.414A>G p.S138= Synonymous 1/20 - 1
1-27023308-CA-C c.414del p.A139Pfs*93 Frameshift 1/20 - 1
1-27023309-G-C c.415G>C p.A139P Missense 1/20 - 1
1-27023310-C-A c.416C>A p.A139D Missense 1/20 - 1
1-27023310-C-T c.416C>T p.A139V Missense 1/20 - 1
1-27023308-AGCCGCGGCCGCCTTGCC-A c.418_434del p.A140Pfs*254 Frameshift 1/20 - 1
1-27023312-G-A c.418G>A p.A140T Missense 1/20 - 2
1-27023313-C-T c.419C>T p.A140V Missense 1/20 - 3
1-27023313-CG-C c.421del p.A141Pfs*91 Frameshift 1/20 - 1
1-27023315-G-A c.421G>A p.A141T Missense 1/20 - 1
1-27023315-G-T c.421G>T p.A141S Missense 1/20 - 1
1-27023316-C-T c.422C>T p.A141V Missense 1/20 - 1
1-27023317-C-G c.423C>G p.A141= Synonymous 1/20 - 1
1-27023318-CG-C c.424del p.A142Pfs*90 Frameshift 1/20 - 1
1-27023318-G-A c.424G>A p.A142T Missense 1/20 - 1
1-27023318-G-T c.424G>T p.A142S Missense 1/20 - 1
1-27023319-C-T c.425C>T p.A142V Missense 1/20 - 2
1-27023320-C-CT c.428dup p.L143Ffs*257 Frameshift 1/20 - 1
1-27023322-T-A c.428T>A p.L143* Nonsense 1/20 - 2
1-27023322-T-C c.428T>C p.L143S Missense 1/20 - 2
1-27023324-C-G c.430C>G p.P144A Missense 1/20 - 1
1-27023324-C-T c.430C>T p.P144S Missense 1/20 - 1
1-27023323-GCCGCCCCCAGC-G c.431_441del p.P144Lfs*252 Frameshift 1/20 - 1
1-27023325-C-A c.431C>A p.P144Q Missense 1/20 - 1
1-27023323-GCCGCCCCCAGCCTACGGCTTCGGGCAAC-G c.432_459del p.P145Tfs*78 Frameshift 1/20 - 1
1-27023326-G-T c.432G>T p.P144= Synonymous 1/20 - 1
1-27023327-C-T c.433C>T p.P145S Missense 1/20 - 1
1-27023328-C-T c.434C>T p.P145L Missense 1/20 - 1
1-27023330-C-G c.436C>G p.P146A Missense 1/20 - 1
1-27023330-C-T c.436C>T p.P146S Missense 1/20 - 1
1-27023326-GC-G c.437del p.P146Qfs*86 Frameshift 1/20 - 8
1-27023331-C-T c.437C>T p.P146L Missense 1/20 - 3
1-27023331-C-CA c.438dup p.A147Sfs*253 Frameshift 1/20 - 2
1-27023332-A-C c.438A>C p.P146= Synonymous 1/20 - 2
1-27023332-A-G c.438A>G p.P146= Synonymous 1/20 - 1
1-27023332-A-T c.438A>T p.P146= Synonymous 1/20 - 1
1-27023333-G-T c.439G>T p.A147S Missense 1/20 - 1
1-27023334-C-T c.440C>T p.A147V Missense 1/20 - 1
1-27023337-A-G c.443A>G p.Y148C Missense 1/20 - 1
1-27023338-C-A c.444C>A p.Y148* Nonsense 1/20 - 3
1-27023338-C-G c.444C>G p.Y148* Nonsense 1/20 - 2
1-27023340-G-A c.446G>A p.G149D Missense 1/20 - 1
1-27023340-G-T c.446G>T p.G149V Missense 1/20 - 1
1-27023341-GC-G c.447del p.F150Sfs*82 Frameshift 1/20 - 1
1-27023342-T-C c.448T>C p.F150L Missense 1/20 - 2
1-27023344-C-A c.450C>A p.F150L Missense 1/20 - 1
1-27023344-C-G c.450C>G p.F150L Missense 1/20 - 1
1-27023343-T-A c.449T>A p.F150Y Missense 1/20 - 1
1-27023345-G-A c.451G>A p.G151R Missense 1/20 - 2
1-27023345-G-C c.451G>C p.G151R Missense 1/20 - 2
1-27023345-GGG-AGC c.451_453delinsAGC p.G151S Missense 1/20 - 1
1-27023346-G-C c.452G>C p.G151A Missense 1/20 - 1
1-27023346-G-T c.452G>T p.G151V Missense 1/20 - 2
1-27023348-C-T c.454C>T p.Q152* Nonsense 1/20 - 5
1-27023347-GCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGC-G c.455_489del p.Q152Rfs*236 Frameshift 1/20 - 1
1-27023349-A-G c.455A>G p.Q152R Missense 1/20 - 1
1-27023351-C-G c.457C>G p.P153A Missense 1/20 - 8
1-27023351-C-T c.457C>T p.P153S Missense 1/20 - 1
1-27023352-C-G c.458C>G p.P153R Missense 1/20 - 1
1-27023352-C-T c.458C>T p.P153L Missense 1/20 - 2
1-27023354-CT-C c.460del p.Y154Tfs*78 Frameshift 1/20 - 1
1-27023354-T-C c.460T>C p.Y154H Missense 1/20 - 1
1-27023355-A-C c.461A>C p.Y154S Missense 1/20 - 2
1-27023356-C-CCT c.462_463insCT p.G155Lfs*78 Frameshift 1/20 - 1
1-27023360-CGG-TGT c.466_468delinsTGT p.R156C Missense 1/20 - 1
1-27023360-CG-TA c.466_467delinsTA p.R156* Nonsense 1/20 - 1
1-27023361-G-C c.467G>C p.R156P Missense 1/20 - 3
1-27023361-GG-AT c.467_468delinsAT p.R156H Missense 1/20 - 1
1-27023358-GCCGGAGC-G c.468_474del p.S157Lfs*73 Frameshift 1/20 - 1
1-27023363-A-G c.469A>G p.S157G Missense 1/20 - 1
1-27023363-AG-TT c.469_470delinsTT p.S157F Missense 1/20 - 1
1-27023365-C-T c.471C>T p.S157= Synonymous 1/20 - 1
1-27023366-C-T c.472C>T p.P158S Missense 1/20 - 13
1-27023367-C-T c.473C>T p.P158L Missense 1/20 - 1
1-27023369-TC-CG c.475_476delinsCG p.S159R Missense 1/20 - 1
1-27023369-T-G c.475T>G p.S159A Missense 1/20 - 1
1-27023370-C-G c.476C>G p.S159C Missense 1/20 - 1
1-27023370-C-T c.476C>T p.S159F Missense 1/20 - 2
1-27023371-T-A c.477T>A p.S159= Synonymous 1/20 - 1
1-27023371-T-TG c.478dup p.A160Gfs*240 Frameshift 1/20 - 1
1-27023373-C-T c.479C>T p.A160V Missense 1/20 - 3
1-27023375-G-C c.481G>C p.V161L Missense 1/20 - 1
1-27023371-TGCCGTC-T c.482_487del p.V161_A162del InFrameDeletion 1/20 - 1
1-27023373-CCGT-C c.482_484del p.V161del InFrameDeletion 1/20 - 1
1-27023376-T-A c.482T>A p.V161D Missense 1/20 - 1
1-27023376-T-C c.482T>C p.V161A Missense 1/20 - 4
1-27023376-T-G c.482T>G p.V161G Missense 1/20 - 1
1-27023377-C-CAGG c.483_484insAGG p.V161_A162insR InFrameInsertion 1/20 - 2
1-27023378-G-A c.484G>A p.A162T Missense 1/20 - 2
1-27023376-TCGCCGCCGCCG-T c.485_495del p.A162Gfs*234 Frameshift 1/20 - 1
1-27023377-C-CGCA c.485_486insAGC p.A167dup InFrameInsertion 1/20 - 1
1-27023379-C-T c.485C>T p.A162V Missense 1/20 - 1
1-27023378-GCCGCCGC-G c.486_492del p.A163Rfs*67 Frameshift 1/20 - 1
1-27023381-G-T c.487G>T p.A163S Missense 1/20 - 1
1-27023382-C-T c.488C>T p.A163V Missense 1/20 - 4
1-27023376-TCGCCGC-T c.489_494del p.A166_A167del InFrameDeletion 1/20 - 2
1-27023384-G-A c.490G>A p.A164T Missense 1/20 - 3
1-27023384-G-C c.490G>C p.A164P Missense 1/20 - 1
1-27023384-G-T c.490G>T p.A164S Missense 1/20 - 1
1-27023385-C-T c.491C>T p.A164V Missense 1/20 - 1
1-27023376-TCGC-T c.492_494del p.A167del InFrameDeletion 1/20 - 1
1-27023386-C-G c.492C>G p.A164= Synonymous 1/20 - 3
1-27023388-C-G c.494C>G p.A165G Missense 1/20 - 2
1-27023388-CG-AC c.494_495delinsAC p.A165D Missense 1/20 - 1
1-27023388-GC-G c.494del p.A165Gfs*67 Frameshift 1/20 - 2
1-27023389-G-A c.495G>A p.A165= Synonymous 1/20 - 1
1-27023390-G-A c.496G>A p.A166T Missense 1/20 - 2
1-27023389-G-GGCA c.497_498insAGC p.A167dup InFrameInsertion 1/20 - 1
1-27023391-C-G c.497C>G p.A166G Missense 1/20 - 1
1-27023391-C-T c.497C>T p.A166V Missense 1/20 - 4
1-27023392-C-A c.498C>A p.A166= Synonymous 1/20 - 1
1-27023392-C-G c.498C>G p.A166= Synonymous 1/20 - 1
1-27023392-C-T c.498C>T p.A166= Synonymous 1/20 - 1
1-27023392-C-CG c.499dup p.A167Gfs*233 Frameshift 1/20 - 1
1-27023389-GGCC-G c.500_502del p.A167del InFrameDeletion 1/20 - 1
1-27023394-C-T c.500C>T p.A167V Missense 1/20 - 2
1-27023393-G-GC c.501dup p.V168Rfs*232 Frameshift 1/20 - 2
1-27023395-C-A c.501C>A p.A167= Synonymous 1/20 - 1
1-27023395-C-G c.501C>G p.A167= Synonymous 1/20 - 1
1-27023395-C-T c.501C>T p.A167= Synonymous 1/20 - 1
1-27023396-G-A c.502G>A p.V168I Missense 1/20 - 1
1-27023397-T-C c.503T>C p.V168A Missense 1/20 - 1
1-27023397-T-G c.503T>G p.V168G Missense 1/20 - 2
1-27023398-C-A c.504C>A p.V168= Synonymous 1/20 - 1
1-27023399-T-C c.505T>C p.F169L Missense 1/20 - 1
1-27023400-TC-T c.508del p.H170Tfs*62 Frameshift 1/20 - 2
1-27023402-C-A c.508C>A p.H170N Missense 1/20 - 1
1-27023402-C-T c.508C>T p.H170Y Missense 1/20 - 1
1-27023403-A-C c.509A>C p.H170P Missense 1/20 - 1
1-27023403-A-G c.509A>G p.H170R Missense 1/20 - 1
1-27023404-C-A c.510C>A p.H170Q Missense 1/20 - 1
1-27023404-C-G c.510C>G p.H170Q Missense 1/20 - 2
1-27023405-C-A c.511C>A p.Q171K Missense 1/20 - 1
1-27023405-C-G c.511C>G p.Q171E Missense 1/20 - 1
1-27023405-C-T c.511C>T p.Q171* Nonsense 1/20 - 4
1-27023406-A-G c.512A>G p.Q171R Missense 1/20 - 2
1-27023407-A-C c.513A>C p.Q171H Missense 1/20 - 5
1-27023407-A-G c.513A>G p.Q171= Synonymous 1/20 - 1
1-27023407-A-T c.513A>T p.Q171H Missense 1/20 - 2
1-27023408-CA-GC c.514_515delinsGC p.Q172A Missense 1/20 - 1
1-27023408-C-T c.514C>T p.Q172* Nonsense 1/20 - 5
1-27023409-A-T c.515A>T p.Q172L Missense 1/20 - 1
1-27023410-A-C c.516A>C p.Q172H Missense 1/20 - 2
1-27023410-A-T c.516A>T p.Q172H Missense 1/20 - 1
1-27023411-CA-GC c.517_518delinsGC p.H173A Missense 1/20 - 1
1-27023411-C-T c.517C>T p.H173Y Missense 1/20 - 1
1-27023412-A-C c.518A>C p.H173P Missense 1/20 - 1
1-27023412-A-G c.518A>G p.H173R Missense 1/20 - 3
1-27023413-T-G c.519T>G p.H173Q Missense 1/20 - 2
1-27023414-G-A c.520G>A p.G174S Missense 1/20 - 2
1-27023417-G-T c.523G>T p.G175* Nonsense 1/20 - 2
1-27023418-G-A c.524G>A p.G175E Missense 1/20 - 1
1-27023418-G-T c.524G>T p.G175V Missense 1/20 - 1
1-27023419-A-AG c.525_526insG p.Q176Afs*224 Frameshift 1/20 - 1
1-27023419-A-AC c.526dup p.Q176Pfs*224 Frameshift 1/20 - 1
1-27023420-C-T c.526C>T p.Q176* Nonsense 1/20 - 7
1-27023420-CA-C c.528del p.Q176Hfs*56 Frameshift 1/20 - 1
1-27023420-C-CA c.528dup p.Q177Tfs*223 Frameshift 1/20 - 1
1-27023423-C-T c.529C>T p.Q177* Nonsense 1/20 - 7
1-27023424-A-G c.530A>G p.Q177R Missense 1/20 - 1
1-27023425-A-C c.531A>C p.Q177H Missense 1/20 - 1
1-27023425-A-T c.531A>T p.Q177H Missense 1/20 - 1
1-27023423-C-CA c.532dup p.S178Kfs*222 Frameshift 1/20 - 1
1-27023426-AG-CT c.532_533inv p.S178L Missense 1/20 - 1
1-27023427-G-T c.533G>T p.S178I Missense 1/20 - 2
1-27023428-C-T c.534C>T p.S178= Synonymous 1/20 - 2
1-27023429-CC-GT c.535_536delinsGT p.P179V Missense 1/20 - 1
1-27023429-C-T c.535C>T p.P179S Missense 1/20 - 2
1-27023430-C-A c.536C>A p.P179H Missense 1/20 - 2
1-27023430-C-G c.536C>G p.P179R Missense 1/20 - 7
1-27023430-C-T c.536C>T p.P179L Missense 1/20 - 2
1-27023431-T-A c.537T>A p.P179= Synonymous 1/20 - 2
1-27023431-T-C c.537T>C p.P179= Synonymous 1/20 - 1
1-27023431-T-G c.537T>G p.P179= Synonymous 1/20 - 1
1-27023432-G-A c.538G>A p.G180S Missense 1/20 - 2
1-27023433-G-A c.539G>A p.G180D Missense 1/20 - 1
1-27023433-G-T c.539G>T p.G180V Missense 1/20 - 1
1-27023434-C-A c.540C>A p.G180= Synonymous 1/20 - 4
1-27023434-C-G c.540C>G p.G180= Synonymous 1/20 - 4
1-27023434-C-T c.540C>T p.G180= Synonymous 1/20 - 6
1-27023433-GC-G c.541del p.L181Wfs*51 Frameshift 1/20 - 1
1-27023438-G-A c.544G>A p.A182T Missense 1/20 - 3
1-27023441-AG-A c.547del p.A183Rfs*49 Frameshift 1/20 - 1
1-27023441-G-A c.547G>A p.A183T Missense 1/20 - 6
1-27023441-G-T c.547G>T p.A183S Missense 1/20 - 1
1-27023442-C-T c.548C>T p.A183V Missense 1/20 - 2
1-27023444-C-T c.550C>T p.L184= Synonymous 1/20 - 2
1-27023445-T-A c.551T>A p.L184Q Missense 1/20 - 1
1-27023445-T-C c.551T>C p.L184P Missense 1/20 - 1
1-27023446-G-A c.552G>A p.L184= Synonymous 1/20 - 1
1-27023446-G-C c.552G>C p.L184= Synonymous 1/20 - 1
1-27023446-G-T c.552G>T p.L184= Synonymous 1/20 - 1
1-27023447-C-T c.553C>T p.Q185* Nonsense 1/20 - 10
1-27023447-C-CA c.554dup p.S186Efs*214 Frameshift 1/20 - 1
1-27023449-G-A c.555G>A p.Q185= Synonymous 1/20 - 1
1-27023449-G-C c.555G>C p.Q185H Missense 1/20 - 1
1-27023449-G-GT c.555_556insT p.S186* Nonsense 1/20 - 1
1-27023449-G-T c.555G>T p.Q185H Missense 1/20 - 3
1-27023450-A-G c.556A>G p.S186G Missense 1/20 - 1
1-27023451-G-T c.557G>T p.S186I Missense 1/20 - 1
1-27023450-AGCGGCGGCGGCGGG-A c.558_571del p.S186Rfs*209 Frameshift 1/20 - 1
1-27023452-GC-G c.558del p.S186Rfs*46 Frameshift 1/20 - 1
1-27023453-G-A c.559G>A p.G187S Missense 1/20 - 4
1-27023454-G-A c.560G>A p.G187D Missense 1/20 - 1
1-27023454-G-C c.560G>C p.G187A Missense 1/20 - 1
1-27023454-G-T c.560G>T p.G187V Missense 1/20 - 1
1-27023456-G-A c.562G>A p.G188S Missense 1/20 - 1
1-27023456-G-T c.562G>T p.G188C Missense 1/20 - 1
1-27023455-CG-C c.563del p.G188Afs*44 Frameshift 1/20 - 1
1-27023457-G-A c.563G>A p.G188D Missense 1/20 - 2
1-27023458-C-CG c.566dup p.G190Rfs*210 Frameshift 1/20 - 1
1-27023460-G-T c.566G>T p.G189V Missense 1/20 - 1
1-27023450-AGCG-A c.567_569del p.G191del InFrameDeletion 1/20 - 6
1-27023459-GGC-G c.567_568del p.G191Pfs*208 Frameshift 1/20 - 1
1-27023462-G-A c.568G>A p.G190R Missense 1/20 - 4
1-27023462-G-C c.568G>C p.G190R Missense 1/20 - 1
1-27023462-G-T c.568G>T p.G190W Missense 1/20 - 1
1-27023463-G-C c.569G>C p.G190A Missense 1/20 - 1
1-27023463-G-T c.569G>T p.G190V Missense 1/20 - 1
1-27023464-G-T c.570G>T p.G190= Synonymous 1/20 - 1
1-27023465-G-A c.571G>A p.G191S Missense 1/20 - 1
1-27023465-G-C c.571G>C p.G191R Missense 1/20 - 3
1-27023465-GGGC-G c.571_573del p.G191del InFrameDeletion 1/20 - 1
1-27023466-G-A c.572G>A p.G191D Missense 1/20 - 1
1-27023466-G-C c.572G>C p.G191A Missense 1/20 - 2
1-27023466-G-T c.572G>T p.G191V Missense 1/20 - 2
1-27023468-C-T c.574C>T p.L192= Synonymous 1/20 - 4
1-27023471-G-A c.577G>A p.E193K Missense 1/20 - 2
1-27023471-G-C c.577G>C p.E193Q Missense 1/20 - 1
1-27023471-G-T c.577G>T p.E193* Nonsense 1/20 - 1
1-27023472-A-G c.578A>G p.E193G Missense 1/20 - 1
1-27023473-G-A c.579G>A p.E193= Synonymous 1/20 - 2
1-27023473-G-C c.579G>C p.E193D Missense 1/20 - 1
1-27023473-G-T c.579G>T p.E193D Missense 1/20 - 2
1-27023474-C-T c.580C>T p.P194S Missense 1/20 - 1
1-27023475-C-A c.581C>A p.P194H Missense 1/20 - 1
1-27023475-CC-AA c.581_582delinsAA p.P194Q Missense 1/20 - 1
1-27023475-C-G c.581C>G p.P194R Missense 1/20 - 1
1-27023475-C-T c.581C>T p.P194L Missense 1/20 - 9
1-27023476-C-CT c.583dup p.Y195Lfs*205 Frameshift 1/20 - 1
1-27023477-T-C c.583T>C p.Y195H Missense 1/20 - 2
1-27023478-A-G c.584A>G p.Y195C Missense 1/20 - 1
1-27023478-TA-T c.584del p.Y195Sfs*37 Frameshift 1/20 - 1
1-27023479-C-A c.585C>A p.Y195* Nonsense 1/20 - 2
1-27023479-C-G c.585C>G p.Y195* Nonsense 1/20 - 1
1-27023481-GC-G c.587del p.A196Gfs*36 Frameshift 1/20 - 1
1-27023482-G-A c.588G>A p.A196= Synonymous 1/20 - 2
1-27023482-G-C c.588G>C p.A196= Synonymous 1/20 - 4
1-27023482-G-T c.588G>T p.A196= Synonymous 1/20 - 2
1-27023483-G-A c.589G>A p.G197R Missense 1/20 - 1
1-27023483-G-C c.589G>C p.G197R Missense 1/20 - 1
1-27023483-GGG-AGC c.589_591delinsAGC p.G197S Missense 1/20 - 3
1-27023484-G-A c.590G>A p.G197E Missense 1/20 - 2
1-27023485-G-A c.591G>A p.G197= Synonymous 1/20 - 1
1-27023486-C-A c.592C>A p.P198T Missense 1/20 - 1
1-27023486-C-T c.592C>T p.P198S Missense 1/20 - 1
1-27023487-C-A c.593C>A p.P198H Missense 1/20 - 1
1-27023487-C-T c.593C>T p.P198L Missense 1/20 - 4
1-27023489-C-T c.595C>T p.Q199* Nonsense 1/20 - 9
1-27023490-A-C c.596A>C p.Q199P Missense 1/20 - 1
1-27023490-A-G c.596A>G p.Q199R Missense 1/20 - 1
1-27023490-A-T c.596A>T p.Q199L Missense 1/20 - 1
1-27023492-CA-AC c.598_599delinsAC p.Q200T Missense 1/20 - 1
1-27023492-C-T c.598C>T p.Q200* Nonsense 1/20 - 15
1-27023495-A-G c.601A>G p.N201D Missense 1/20 - 1
1-27023497-C-A c.603C>A p.N201K Missense 1/20 - 2
1-27023497-C-G c.603C>G p.N201K Missense 1/20 - 3
1-27023497-C-T c.603C>T p.N201= Synonymous 1/20 - 2
1-27023498-T-C c.604T>C p.S202P Missense 1/20 - 1
1-27023499-C-G c.605C>G p.S202C Missense 1/20 - 1
1-27023499-C-T c.605C>T p.S202F Missense 1/20 - 2
1-27023499-CT-AA c.605_606delinsAA p.S202* Nonsense 1/20 - 1
1-27023500-T-G c.606T>G p.S202= Synonymous 1/20 - 2
1-27023501-C-A c.607C>A p.H203N Missense 1/20 - 1
1-27023501-C-CA c.608dup p.H203Qfs*197 Frameshift 1/20 - 3
1-27023502-A-G c.608A>G p.H203R Missense 1/20 - 3
1-27023503-AC-A c.609del p.H203Qfs*29 Frameshift 1/20 - 1
1-27023503-C-A c.609C>A p.H203Q Missense 1/20 - 4
1-27023503-C-CT c.609_610insT p.D204* Nonsense 1/20 - 1
1-27023503-C-G c.609C>G p.H203Q Missense 1/20 - 3
1-27023503-C-T c.609C>T p.H203= Synonymous 1/20 - 1
1-27023504-G-A c.610G>A p.D204N Missense 1/20 - 3
1-27023504-G-T c.610G>T p.D204Y Missense 1/20 - 2
1-27023505-A-G c.611A>G p.D204G Missense 1/20 - 2
1-27023506-C-A c.612C>A p.D204E Missense 1/20 - 1
1-27023506-C-G c.612C>G p.D204E Missense 1/20 - 2
1-27023507-C-G c.613C>G p.H205D Missense 1/20 - 2
1-27023508-CA-C c.614del p.H205Pfs*27 Frameshift 1/20 - 1
1-27023505-ACCACGGCTTCC-A c.615_625del p.H205Qfs*191 Frameshift 1/20 - 1
1-27023510-G-A c.616G>A p.G206S Missense 1/20 - 5
1-27023510-G-T c.616G>T p.G206C Missense 1/20 - 1
1-27023511-G-A c.617G>A p.G206D Missense 1/20 - 2
1-27023511-G-T c.617G>T p.G206V Missense 1/20 - 2
1-27023513-T-C c.619T>C p.F207L Missense 1/20 - 2
1-27023515-C-A c.621C>A p.F207L Missense 1/20 - 2
1-27023515-C-G c.621C>G p.F207L Missense 1/20 - 2
1-27023516-C-A c.622C>A p.P208T Missense 1/20 - 4
1-27023516-C-T c.622C>T p.P208S Missense 1/20 - 6
1-27023517-C-A c.623C>A p.P208H Missense 1/20 - 1
1-27023517-C-T c.623C>T p.P208L Missense 1/20 - 4
1-27023518-C-CT c.624_625insT p.N209* Nonsense 1/20 - 1
1-27023519-A-G c.625A>G p.N209D Missense 1/20 - 1
1-27023519-A-T c.625A>T p.N209Y Missense 1/20 - 1
1-27023518-C-CA c.626dup p.N209Kfs*191 Frameshift 1/20 - 1
1-27023520-A-C c.626A>C p.N209T Missense 1/20 - 1
1-27023520-A-G c.626A>G p.N209S Missense 1/20 - 2
1-27023521-C-T c.627C>T p.N209= Synonymous 1/20 - 2
1-27023520-A-AC c.628dup p.H210Pfs*190 Frameshift 1/20 - 1
1-27023522-C-A c.628C>A p.H210N Missense 1/20 - 1
1-27023523-A-C c.629A>C p.H210P Missense 1/20 - 1
1-27023523-A-G c.629A>G p.H210R Missense 1/20 - 1
1-27023524-C-G c.630C>G p.H210Q Missense 1/20 - 1
1-27023524-C-T c.630C>T p.H210= Synonymous 1/20 - 1
1-27023525-C-T c.631C>T p.Q211* Nonsense 1/20 - 7
1-27023526-A-G c.632A>G p.Q211R Missense 1/20 - 1
1-27023527-G-GTAA c.635_636insATA p.Q211_Y212ins* InFrameInsertion 1/20 - 1
1-27023529-A-T c.635A>T p.Y212F Missense 1/20 - 1
1-27023530-AC-A c.636del p.Y212* Frameshift 1/20 - 1
1-27023530-C-A c.636C>A p.Y212* Nonsense 1/20 - 4
1-27023530-C-G c.636C>G p.Y212* Nonsense 1/20 - 4
1-27023533-C-A c.639C>A p.N213K Missense 1/20 - 1
1-27023533-C-G c.639C>G p.N213K Missense 1/20 - 1
1-27023534-CT-C c.640del p.S214Pfs*18 Frameshift 1/20 - 1
1-27023534-T-C c.640T>C p.S214P Missense 1/20 - 1
1-27023534-TC-GG c.640_641delinsGG p.S214G Missense 1/20 - 1
1-27023534-T-G c.640T>G p.S214A Missense 1/20 - 1
1-27023535-C-A c.641C>A p.S214Y Missense 1/20 - 1
1-27023535-CC-AA c.641_642delinsAA p.S214* Nonsense 1/20 - 1
1-27023535-C-G c.641C>G p.S214C Missense 1/20 - 1
1-27023535-C-T c.641C>T p.S214F Missense 1/20 - 2
1-27023536-C-G c.642C>G p.S214= Synonymous 1/20 - 1
1-27023539-C-A c.645C>A p.Y215* Nonsense 1/20 - 1
1-27023539-C-G c.645C>G p.Y215* Nonsense 1/20 - 3
1-27023540-CT-C c.646del p.Y216Tfs*16 Frameshift 1/20 - 1
1-27023540-T-C c.646T>C p.Y216H Missense 1/20 - 1
1-27023540-T-TAA c.647_648insAA p.Y216* Nonsense 1/20 - 1
1-27023541-A-C c.647A>C p.Y216S Missense 1/20 - 1
1-27023542-C-A c.648C>A p.Y216* Nonsense 1/20 - 5
1-27023542-C-G c.648C>G p.Y216* Nonsense 1/20 - 4
1-27023543-C-G c.649C>G p.P217A Missense 1/20 - 1
1-27023543-C-T c.649C>T p.P217S Missense 1/20 - 1
1-27023544-C-G c.650C>G p.P217R Missense 1/20 - 1
1-27023544-C-T c.650C>T p.P217L Missense 1/20 - 1
1-27023547-A-C c.653A>C p.N218T Missense 1/20 - 2
1-27023549-CG-AC c.655_656delinsAC p.R219T Missense 1/20 - 1
1-27023549-CGC-AAG c.655_657delinsAAG p.R219K Missense 1/20 - 1
1-27023549-CGC-TGA c.655_657delinsTGA p.R219* Nonsense 1/20 - 1
1-27023549-C-T c.655C>T p.R219C Missense 1/20 - 1
1-27023550-G-A c.656G>A p.R219H Missense 1/20 - 1
1-27023550-G-C c.656G>C p.R219P Missense 1/20 - 1
1-27023552-AG-CT c.658_659inv p.S220L Missense 1/20 - 1
1-27023553-AG-A c.659del p.S220Tfs*12 Frameshift 1/20 - 1
1-27023553-GCGC-G c.661_663del p.A221del InFrameDeletion 1/20 - 1
1-27023555-CG-C c.661del p.A221Pfs*11 Frameshift 1/20 - 1
1-27023555-G-A c.661G>A p.A221T Missense 1/20 - 1
1-27023556-C-T c.662C>T p.A221V Missense 1/20 - 1
1-27023558-T-C c.664T>C p.Y222H Missense 1/20 - 1
1-27023559-A-C c.665A>C p.Y222S Missense 1/20 - 2
1-27023559-A-G c.665A>G p.Y222C Missense 1/20 - 2
1-27023559-TACCC-T c.665_668del p.Y222Sfs*9 Frameshift 1/20 - 1
1-27023559-TA-T c.665del p.Y222Sfs*10 Frameshift 1/20 - 2
1-27023560-C-A c.666C>A p.Y222* Nonsense 1/20 - 6
1-27023560-C-G c.666C>G p.Y222* Nonsense 1/20 - 4
1-27023561-C-T c.667C>T p.P223S Missense 1/20 - 2
1-27023562-C-A c.668C>A p.P223H Missense 1/20 - 1
1-27023562-C-T c.668C>T p.P223L Missense 1/20 - 2
1-27023564-C-CA c.670_671insA p.P224Hfs*176 Frameshift 1/20 - 1
1-27023564-C-G c.670C>G p.P224A Missense 1/20 - 1
1-27023564-C-T c.670C>T p.P224S Missense 1/20 - 2
1-27023559-A-AC c.671dup p.P225Afs*175 Frameshift 1/20 - 7
1-27023559-AC-A c.671del p.P224Rfs*8 Frameshift 1/20 - 7
1-27023565-C-T c.671C>T p.P224L Missense 1/20 - 2
1-27023566-G-A c.672G>A p.P224= Synonymous 1/20 - 1
1-27023566-G-C c.672G>C p.P224= Synonymous 1/20 - 1
1-27023566-G-T c.672G>T p.P224= Synonymous 1/20 - 2
1-27023567-C-A c.673C>A p.P225T Missense 1/20 - 2
1-27023567-C-CA c.673_674insA p.P225Hfs*175 Frameshift 1/20 - 1
1-27023567-C-T c.673C>T p.P225S Missense 1/20 - 3
1-27023568-C-A c.674C>A p.P225H Missense 1/20 - 1
1-27023568-C-G c.674C>G p.P225R Missense 1/20 - 1
1-27023568-C-T c.674C>T p.P225L Missense 1/20 - 2
1-27023569-CG-TC c.675_676delinsTC p.A226P Missense 1/20 - 1
1-27023569-C-T c.675C>T p.P225= Synonymous 1/20 - 2
1-27023569-C-CG c.676dup p.A226Gfs*174 Frameshift 1/20 - 1
1-27023570-G-A c.676G>A p.A226T Missense 1/20 - 5
1-27023570-G-C c.676G>C p.A226P Missense 1/20 - 15
1-27023570-G-T c.676G>T p.A226S Missense 1/20 - 4
1-27023571-C-A c.677C>A p.A226D Missense 1/20 - 1
1-27023571-C-T c.677C>T p.A226V Missense 1/20 - 2
1-27023569-CGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGG-C c.678_720del p.Y229Rfs*120 Frameshift 1/20 - 2
1-27023572-C-A c.678C>A p.A226= Synonymous 1/20 - 1
1-27023572-C-G c.678C>G p.A226= Synonymous 1/20 - 1
1-27023572-C-T c.678C>T p.A226= Synonymous 1/20 - 1
1-27023573-C-T c.679C>T p.P227S Missense 1/20 - 1
1-27023572-CCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCA-C c.680_713del p.P227Lfs*125 Frameshift 1/20 - 1
1-27023574-C-A c.680C>A p.P227Q Missense 1/20 - 9
1-27023574-CG-AT c.680_681delinsAT p.P227H Missense 1/20 - 1
1-27023574-C-T c.680C>T p.P227L Missense 1/20 - 2
1-27023572-CCCGG-C c.681_684del p.A228Tfs*3 Frameshift 1/20 - 1
1-27023574-C-CG c.682dup p.A228Gfs*172 Frameshift 1/20 - 1
1-27023576-G-C c.682G>C p.A228P Missense 1/20 - 1
1-27023577-C-A c.683C>A p.A228D Missense 1/20 - 1
1-27023577-C-T c.683C>T p.A228V Missense 1/20 - 3
1-27023580-A-C c.686A>C p.Y229S Missense 1/20 - 1
1-27023580-A-G c.686A>G p.Y229C Missense 1/20 - 3
1-27023581-C-A c.687C>A p.Y229* Nonsense 1/20 - 2
1-27023581-C-G c.687C>G p.Y229* Nonsense 1/20 - 2
1-27023582-G-C c.688G>C p.A230P Missense 1/20 - 1
1-27023583-C-T c.689C>T p.A230V Missense 1/20 - 4
1-27023580-ACG-A c.690_691del p.L231Efs*168 Frameshift 1/20 - 1
1-27023585-C-G c.691C>G p.L231V Missense 1/20 - 3
1-27023585-CT-TA c.691_692delinsTA p.L231* Nonsense 1/20 - 1
1-27023585-GCT-G c.691_692del p.L231Efs*168 Frameshift 1/20 - 2
1-27023586-T-C c.692T>C p.L231P Missense 1/20 - 2
1-27023587-G-GT c.693_694insT p.S232* Nonsense 1/20 - 1
1-27023588-AGC-TGA c.694_696delinsTGA p.S232* Nonsense 1/20 - 1
1-27023590-C-A c.696C>A p.S232R Missense 1/20 - 1
1-27023592-C-T c.698C>T p.S233F Missense 1/20 - 4
1-27023593-C-T c.699C>T p.S233= Synonymous 1/20 - 1
1-27023594-CCG-GAC c.700_702delinsGAC p.P234D Missense 1/20 - 1
1-27023594-C-G c.700C>G p.P234A Missense 1/20 - 1
1-27023594-C-T c.700C>T p.P234S Missense 1/20 - 1
1-27023591-TC-T c.701del p.P234Rfs*129 Frameshift 1/20 - 2
1-27023593-CCCGAGAGGTGGCA-C c.701_713del p.P234Lfs*125 Frameshift 1/20 - 1
1-27023595-C-T c.701C>T p.P234L Missense 1/20 - 3
1-27023596-G-A c.702G>A p.P234= Synonymous 1/20 - 1
1-27023597-AGA-TGG c.703_705delinsTGG p.R235W Missense 1/20 - 1
1-27023597-A-T c.703A>T p.R235* Nonsense 1/20 - 2
1-27023598-G-A c.704G>A p.R235K Missense 1/20 - 1
1-27023600-G-A c.706G>A p.G236S Missense 1/20 - 3
1-27023600-GGT-TGG c.706_708delinsTGG p.G236W Missense 1/20 - 1
1-27023601-G-A c.707G>A p.G236D Missense 1/20 - 1
1-27023604-G-A c.710G>A p.G237D Missense 1/20 - 3
1-27023604-G-C c.710G>C p.G237A Missense 1/20 - 1
1-27023605-C-A c.711C>A p.G237= Synonymous 1/20 - 1
1-27023607-C-A c.713C>A p.T238N Missense 1/20 - 2
1-27023607-C-T c.713C>T p.T238I Missense 1/20 - 1
1-27023608-CTCCGGGCTCCGGCGCGGCGGCGGCT-C c.714_738del p.G240Afs*115 Frameshift 1/20 - 1
1-27023609-C-A c.715C>A p.P239T Missense 1/20 - 2
1-27023609-C-G c.715C>G p.P239A Missense 1/20 - 3
1-27023609-C-T c.715C>T p.P239S Missense 1/20 - 1
1-27023608-TC-T c.716del p.P239Rfs*124 Frameshift 1/20 - 1
1-27023610-C-G c.716C>G p.P239R Missense 1/20 - 1
1-27023610-CG-AT c.716_717delinsAT p.P239H Missense 1/20 - 1
1-27023610-C-T c.716C>T p.P239L Missense 1/20 - 3
1-27023611-G-T c.717G>T p.P239= Synonymous 1/20 - 1
1-27023612-GGC-TGA c.718_720delinsTGA p.G240* Nonsense 1/20 - 2
1-27023610-CG-C c.719del p.G240Afs*123 Frameshift 1/20 - 1
1-27023613-G-GC c.720dup p.S241Lfs*159 Frameshift 1/20 - 1
1-27023615-T-A c.721T>A p.S241T Missense 1/20 - 1
1-27023615-T-C c.721T>C p.S241P Missense 1/20 - 2
1-27023616-C-A c.722C>A p.S241Y Missense 1/20 - 1
1-27023616-C-G c.722C>G p.S241C Missense 1/20 - 1
1-27023616-C-T c.722C>T p.S241F Missense 1/20 - 2
1-27023617-C-A c.723C>A p.S241= Synonymous 1/20 - 2
1-27023617-C-G c.723C>G p.S241= Synonymous 1/20 - 2
1-27023617-C-T c.723C>T p.S241= Synonymous 1/20 - 2
1-27023618-G-C c.724G>C p.G242R Missense 1/20 - 1
1-27023619-G-C c.725G>C p.G242A Missense 1/20 - 1
1-27023621-G-A c.727G>A p.A243T Missense 1/20 - 2
1-27023620-C-CGCA c.728_729insAGC p.A247dup InFrameInsertion 1/20 - 1
1-27023622-C-G c.728C>G p.A243G Missense 1/20 - 2
1-27023624-G-A c.730G>A p.A244T Missense 1/20 - 2
1-27023623-G-GGCA c.731_732insAGC p.A247dup InFrameInsertion 1/20 - 1
1-27023625-C-A c.731C>A p.A244E Missense 1/20 - 1
1-27023625-C-G c.731C>G p.A244G Missense 1/20 - 2
1-27023625-C-T c.731C>T p.A244V Missense 1/20 - 1
1-27023625-GC-G c.731del p.A244Gfs*119 Frameshift 1/20 - 1
1-27023626-G-GA c.732_733insA p.A245Sfs*155 Frameshift 1/20 - 1
1-27023627-G-C c.733G>C p.A245P Missense 1/20 - 1
1-27023627-G-T c.733G>T p.A245S Missense 1/20 - 1
1-27023628-C-G c.734C>G p.A245G Missense 1/20 - 1
1-27023628-C-T c.734C>T p.A245V Missense 1/20 - 2
1-27023628-GC-G c.734del p.A245Gfs*118 Frameshift 1/20 - 1
1-27023620-CGCG-C c.735_737del p.A247del InFrameDeletion 1/20 - 1
1-27023624-GCGGCGGCTGC-G c.735_744del p.A246Pfs*114 Frameshift 1/20 - 1
1-27023630-G-A c.736G>A p.A246T Missense 1/20 - 3
1-27023630-G-GC c.737dup p.A247Cfs*153 Frameshift 1/20 - 1
1-27023632-T-C c.738T>C p.A246= Synonymous 1/20 - 1
1-27023633-G-A c.739G>A p.A247T Missense 1/20 - 2
1-27023634-C-G c.740C>G p.A247G Missense 1/20 - 2
1-27023634-C-T c.740C>T p.A247V Missense 1/20 - 1
1-27023635-C-CGCA c.742_743insCAG p.A247dup InFrameInsertion 1/20 - 2
1-27023636-G-C c.742G>C p.G248R Missense 1/20 - 1
1-27023636-G-T c.742G>T p.G248C Missense 1/20 - 1
1-27023637-G-A c.743G>A p.G248D Missense 1/20 - 2
1-27023637-G-GTTCCAAGCCGC c.743_744insTTCCAAGCCGC p.S255Rfs*112 Frameshift 1/20 - 1
1-27023637-G-T c.743G>T p.G248V Missense 1/20 - 1
1-27023639-CT-C c.745del p.S249Pfs*114 Frameshift 1/20 - 1
1-27023639-T-G c.745T>G p.S249A Missense 1/20 - 1
1-27023640-C-G c.746C>G p.S249C Missense 1/20 - 3
1-27023642-A-C c.748A>C p.K250Q Missense 1/20 - 1
1-27023642-A-G c.748A>G p.K250E Missense 1/20 - 1
1-27023642-A-T c.748A>T p.K250* Nonsense 1/20 - 1
1-27023643-A-G c.749A>G p.K250R Missense 1/20 - 1
1-27023644-AG-A c.750del p.K250Nfs*113 Frameshift 1/20 - 1
1-27023644-G-A c.750G>A p.K250= Synonymous 1/20 - 1
1-27023644-G-C c.750G>C p.K250N Missense 1/20 - 1
1-27023644-G-T c.750G>T p.K250N Missense 1/20 - 1
1-27023645-C-G c.751C>G p.P251A Missense 1/20 - 1
1-27023646-C-T c.752C>T p.P251L Missense 1/20 - 1
1-27023648-C-T c.754C>T p.P252S Missense 1/20 - 1
1-27023649-C-A c.755C>A p.P252H Missense 1/20 - 1
1-27023651-C-G c.757C>G p.P253A Missense 1/20 - 4
1-27023651-C-T c.757C>T p.P253S Missense 1/20 - 1
1-27023652-C-G c.758C>G p.P253R Missense 1/20 - 2
1-27023652-C-T c.758C>T p.P253L Missense 1/20 - 2
1-27023644-GCCGCCTCCCTCCTCCAGCGCCT-G c.759_780del p.S254Rfs*102 Frameshift 1/20 - 1
1-27023654-T-C c.760T>C p.S254P Missense 1/20 - 1
1-27023655-CC-AA c.761_762delinsAA p.S254* Nonsense 1/20 - 1
1-27023655-C-T c.761C>T p.S254F Missense 1/20 - 1
1-27023654-TC-T c.762del p.S255Pfs*108 Frameshift 1/20 - 1
1-27023658-C-A c.764C>A p.S255Y Missense 1/20 - 1
1-27023657-TC-T c.765del p.S256Afs*107 Frameshift 1/20 - 1
1-27023660-AG-GC c.766_767delinsGC p.S256A Missense 1/20 - 1
1-27023660-AG-TT c.766_767delinsTT p.S256F Missense 1/20 - 1
1-27023661-G-A c.767G>A p.S256N Missense 1/20 - 1
1-27023663-G-T c.769G>T p.A257S Missense 1/20 - 3
1-27023664-C-T c.770C>T p.A257V Missense 1/20 - 3
1-27023665-C-A c.771C>A p.A257= Synonymous 1/20 - 1
1-27023665-C-CAT c.771_772insAT p.S258Ifs*106 Frameshift 1/20 - 1
1-27023665-C-T c.771C>T p.A257= Synonymous 1/20 - 1
1-27023666-T-C c.772T>C p.S258P Missense 1/20 - 1
1-27023666-T-G c.772T>G p.S258A Missense 1/20 - 1
1-27023667-C-T c.773C>T p.S258F Missense 1/20 - 2
1-27023668-C-T c.774C>T p.S258= Synonymous 1/20 - 1
1-27023669-G-A c.775G>A p.A259T Missense 1/20 - 1
1-27023669-G-T c.775G>T p.A259S Missense 1/20 - 1
1-27023670-C-A c.776C>A p.A259D Missense 1/20 - 1
1-27023671-C-A c.777C>A p.A259= Synonymous 1/20 - 1
1-27023671-C-G c.777C>G p.A259= Synonymous 1/20 - 1
1-27023671-C-T c.777C>T p.A259= Synonymous 1/20 - 2
1-27023672-T-A c.778T>A p.S260T Missense 1/20 - 2
1-27023672-TC-CT c.778_779delinsCT p.S260L Missense 1/20 - 1
1-27023672-T-G c.778T>G p.S260A Missense 1/20 - 3
1-27023673-C-T c.779C>T p.S260F Missense 1/20 - 3
1-27023669-GCCT-G c.780_782del p.S265del InFrameDeletion 1/20 - 4
1-27023676-C-A c.782C>A p.S261* Nonsense 1/20 - 7
1-27023676-C-G c.782C>G p.S261W Missense 1/20 - 1
1-27023676-C-T c.782C>T p.S261L Missense 1/20 - 3
1-27023676-TCGTCGTCTTC-T c.782_791del p.S261Cfs*99 Frameshift 1/20 - 1
1-27023678-TC-AG c.784_785delinsAG p.S262R Missense 1/20 - 1
1-27023678-TCG-GAC c.784_786delinsGAC p.S262D Missense 1/20 - 1
1-27023678-T-G c.784T>G p.S262A Missense 1/20 - 1
1-27023679-C-A c.785C>A p.S262* Nonsense 1/20 - 3
1-27023679-C-G c.785C>G p.S262W Missense 1/20 - 1
1-27023679-C-T c.785C>T p.S262L Missense 1/20 - 1
1-27023674-CTCG-C c.786_788del p.S265del InFrameDeletion 1/20 - 1
1-27023681-T-A c.787T>A p.S263T Missense 1/20 - 1
1-27023682-C-T c.788C>T p.S263F Missense 1/20 - 1
1-27023683-T-A c.789T>A p.S263= Synonymous 1/20 - 1
1-27023683-T-C c.789T>C p.S263= Synonymous 1/20 - 2
1-27023683-T-G c.789T>G p.S263= Synonymous 1/20 - 1
1-27023685-C-A c.791C>A p.S264* Nonsense 1/20 - 10
1-27023685-C-G c.791C>G p.S264W Missense 1/20 - 1
1-27023685-CG-TT c.791_792delinsTT p.S264F Missense 1/20 - 1
1-27023685-C-T c.791C>T p.S264L Missense 1/20 - 2
1-27023685-TC-T c.791del p.S264Cfs*99 Frameshift 1/20 - 1
1-27023687-TC-AA c.793_794delinsAA p.S265N Missense 1/20 - 1
1-27023688-C-T c.794C>T p.S265F Missense 1/20 - 4
1-27023690-T-C c.796T>C p.F266L Missense 1/20 - 2
1-27023690-TT-GC c.796_797delinsGC p.F266A Missense 1/20 - 1
1-27023692-C-A c.798C>A p.F266L Missense 1/20 - 2
1-27023692-C-G c.798C>G p.F266L Missense 1/20 - 1
1-27023689-CT-C c.797del p.F266Sfs*97 Frameshift 1/20 - 1
1-27023691-TC-AA c.797_798delinsAA p.F266* Nonsense 1/20 - 1
1-27023693-G-A c.799G>A p.A267T Missense 1/20 - 1
1-27023693-G-C c.799G>C p.A267P Missense 1/20 - 2
1-27023695-T-A c.801T>A p.A267= Synonymous 1/20 - 2
1-27023695-T-C c.801T>C p.A267= Synonymous 1/20 - 1
1-27023695-T-G c.801T>G p.A267= Synonymous 1/20 - 1
1-27023696-C-T c.802C>T p.Q268* Nonsense 1/20 - 23
1-27023697-A-T c.803A>T p.Q268L Missense 1/20 - 1
1-27023698-G-A c.804G>A p.Q268= Synonymous 1/20 - 1
1-27023699-C-T c.805C>T p.Q269* Nonsense 1/20 - 7
1-27023700-A-C c.806A>C p.Q269P Missense 1/20 - 2
1-27023700-A-G c.806A>G p.Q269R Missense 1/20 - 2
1-27023700-A-AG c.807dup p.R270Afs*130 Frameshift 1/20 - 1
1-27023702-CG-AC c.808_809delinsAC p.R270T Missense 1/20 - 1
1-27023702-C-T c.808C>T p.R270C Missense 1/20 - 3
1-27023703-G-A c.809G>A p.R270H Missense 1/20 - 10
1-27023703-GC-AA c.809_810delinsAA p.R270Q Missense 1/20 - 1
1-27023703-G-T c.809G>T p.R270L Missense 1/20 - 1
1-27023704-C-A c.810C>A p.R270= Synonymous 1/20 - 1
1-27023704-C-G c.810C>G p.R270= Synonymous 1/20 - 1
1-27023704-C-T c.810C>T p.R270= Synonymous 1/20 - 1
1-27023705-T-C c.811T>C p.F271L Missense 1/20 - 1
1-27023707-C-A c.813C>A p.F271L Missense 1/20 - 1
1-27023707-C-G c.813C>G p.F271L Missense 1/20 - 1
1-27023707-TC-T c.813del p.F271Lfs*92 Frameshift 1/20 - 2
1-27023708-G-A c.814G>A p.G272R Missense 1/20 - 1
1-27023709-G-C c.815G>C p.G272A Missense 1/20 - 1
1-27023712-C-T c.818C>T p.A273V Missense 1/20 - 2
1-27023711-GC-G c.819del p.M274Wfs*89 Frameshift 1/20 - 1
1-27023714-AT-TA c.820_821delinsTA p.M274* Nonsense 1/20 - 1
1-27023715-AT-A c.821del p.M274Rfs*89 Frameshift 1/20 - 2
1-27023716-G-A c.822G>A p.M274I Missense 1/20 - 2
1-27023717-G-A c.823G>A p.G275R Missense 1/20 - 2
1-27023717-GGG-AGC c.823_825delinsAGC p.G275S Missense 1/20 - 1
1-27023717-GGG-TGT c.823_825delinsTGT p.G275C Missense 1/20 - 1
1-27023718-G-A c.824G>A p.G275E Missense 1/20 - 1
1-27023718-G-C c.824G>C p.G275A Missense 1/20 - 2
1-27023718-GGGGGAGGCGGCCC-G c.824_836del p.G275Afs*84 Frameshift 1/20 - 1
1-27023718-G-T c.824G>T p.G275V Missense 1/20 - 2
1-27023719-GGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTC-G c.825_859del p.G276Pfs*112 Frameshift 1/20 - 1
1-27023720-GGA-TTT c.826_828delinsTTT p.G276F Missense 1/20 - 1
1-27023720-G-T c.826G>T p.G276* Nonsense 1/20 - 3
1-27023715-TG-T c.827del p.G276Efs*87 Frameshift 1/20 - 13
1-27023715-T-TG c.827dup p.G277Rfs*123 Frameshift 1/20 - 1
1-27023721-G-C c.827G>C p.G276A Missense 1/20 - 1
1-27023721-G-T c.827G>T p.G276V Missense 1/20 - 1
1-27023722-A-C c.828A>C p.G276= Synonymous 1/20 - 1
1-27023722-A-G c.828A>G p.G276= Synonymous 1/20 - 1
1-27023722-A-T c.828A>T p.G276= Synonymous 1/20 - 1
1-27023723-G-C c.829G>C p.G277R Missense 1/20 - 1
1-27023724-G-A c.830G>A p.G277D Missense 1/20 - 1
1-27023724-G-T c.830G>T p.G277V Missense 1/20 - 1
1-27023726-G-A c.832G>A p.G278S Missense 1/20 - 4
1-27023726-G-T c.832G>T p.G278C Missense 1/20 - 1
1-27023727-G-A c.833G>A p.G278D Missense 1/20 - 2
1-27023727-G-T c.833G>T p.G278V Missense 1/20 - 2
1-27023730-C-T c.836C>T p.P279L Missense 1/20 - 1
1-27023732-T-C c.838T>C p.S280P Missense 1/20 - 2
1-27023732-T-G c.838T>G p.S280A Missense 1/20 - 1
1-27023733-C-A c.839C>A p.S280Y Missense 1/20 - 1
1-27023733-CC-AA c.839_840delinsAA p.S280* Nonsense 1/20 - 2
1-27023733-C-T c.839C>T p.S280F Missense 1/20 - 4
1-27023734-C-A c.840C>A p.S280= Synonymous 1/20 - 2
1-27023734-C-G c.840C>G p.S280= Synonymous 1/20 - 2
1-27023734-C-T c.840C>T p.S280= Synonymous 1/20 - 2
1-27023735-G-A c.841G>A p.A281T Missense 1/20 - 4
1-27023735-G-T c.841G>T p.A281S Missense 1/20 - 2
1-27023735-G-GC c.842dup p.A282Gfs*118 Frameshift 1/20 - 1
1-27023737-G-A c.843G>A p.A281= Synonymous 1/20 - 3
1-27023737-G-C c.843G>C p.A281= Synonymous 1/20 - 1
1-27023737-G-T c.843G>T p.A281= Synonymous 1/20 - 1
1-27023736-C-CG c.844dup p.A282Gfs*118 Frameshift 1/20 - 1
1-27023736-CG-C c.844del p.A282Pfs*81 Frameshift 1/20 - 1
1-27023738-G-A c.844G>A p.A282T Missense 1/20 - 1
1-27023738-G-T c.844G>T p.A282S Missense 1/20 - 1
1-27023739-C-T c.845C>T p.A282V Missense 1/20 - 1
1-27023740-C-T c.846C>T p.A282= Synonymous 1/20 - 1
1-27023742-G-A c.848G>A p.G283D Missense 1/20 - 2
1-27023740-CGGCGGG-C c.849_854del p.G284_G285del InFrameDeletion 1/20 - 1
1-27023743-C-A c.849C>A p.G283= Synonymous 1/20 - 1
1-27023743-C-G c.849C>G p.G283= Synonymous 1/20 - 1
1-27023743-C-T c.849C>T p.G283= Synonymous 1/20 - 1
1-27023744-G-A c.850G>A p.G284R Missense 1/20 - 2
1-27023744-G-C c.850G>C p.G284R Missense 1/20 - 3
1-27023745-G-GAAGACT c.851_852insAAGACT p.G284_G285insRL InFrameInsertion 1/20 - 1
1-27023745-G-T c.851G>T p.G284V Missense 1/20 - 1
1-27023746-G-A c.852G>A p.G284= Synonymous 1/20 - 1
1-27023746-G-C c.852G>C p.G284= Synonymous 1/20 - 1
1-27023746-G-T c.852G>T p.G284= Synonymous 1/20 - 1
1-27023743-C-CG c.854dup p.T286Nfs*114 Frameshift 1/20 - 1
1-27023743-CG-C c.854del p.G285Efs*78 Frameshift 1/20 - 6
1-27023749-A-C c.855A>C p.G285= Synonymous 1/20 - 1
1-27023749-A-G c.855A>G p.G285= Synonymous 1/20 - 2
1-27023749-A-T c.855A>T p.G285= Synonymous 1/20 - 1
1-27023750-A-C c.856A>C p.T286P Missense 1/20 - 2
1-27023750-A-G c.856A>G p.T286A Missense 1/20 - 3
1-27023750-A-T c.856A>T p.T286S Missense 1/20 - 1
1-27023751-C-G c.857C>G p.T286S Missense 1/20 - 1
1-27023751-C-T c.857C>T p.T286I Missense 1/20 - 2
1-27023751-C-CT c.858dup p.P287Sfs*113 Frameshift 1/20 - 1
1-27023753-C-T c.859C>T p.P287S Missense 1/20 - 1
1-27023752-TCCCCAGC-T c.861_867del p.Q288Pfs*73 Frameshift 1/20 - 1
1-27023755-C-A c.861C>A p.P287= Synonymous 1/20 - 1
1-27023755-C-G c.861C>G p.P287= Synonymous 1/20 - 1
1-27023755-C-T c.861C>T p.P287= Synonymous 1/20 - 1
1-27023752-TCCCCAGCCCACCGCCACCCCCA-T c.862_883del p.Q288Sfs*68 Frameshift 1/20 - 1
1-27023752-TC-T c.862del p.Q288Sfs*75 Frameshift 1/20 - 1
1-27023756-C-G c.862C>G p.Q288E Missense 1/20 - 1
1-27023756-C-T c.862C>T p.Q288* Nonsense 1/20 - 7
1-27023757-A-C c.863A>C p.Q288P Missense 1/20 - 4
1-27023757-CA-C c.863del p.Q288Rfs*75 Frameshift 1/20 - 1
1-27023752-TCCCCAGCCCACCGCCAC-T c.864_880del p.Q288Hfs*106 Frameshift 1/20 - 1
1-27023759-C-T c.865C>T p.P289S Missense 1/20 - 5
1-27023760-C-A c.866C>A p.P289H Missense 1/20 - 1
1-27023760-C-T c.866C>T p.P289L Missense 1/20 - 3
1-27023758-G-GCCCCCCC c.867_868insCCCCCCC p.T290Pfs*112 Frameshift 1/20 - 1
1-27023758-GCCCACCGCCAC-G c.868_878del p.T290Hfs*106 Frameshift 1/20 - 1
1-27023762-A-C c.868A>C p.T290P Missense 1/20 - 2
1-27023762-A-G c.868A>G p.T290A Missense 1/20 - 2
1-27023762-CA-C c.868del p.T290Pfs*73 Frameshift 1/20 - 1
1-27023765-G-A c.871G>A p.A291T Missense 1/20 - 2
1-27023765-G-C c.871G>C p.A291P Missense 1/20 - 1
1-27023765-G-T c.871G>T p.A291S Missense 1/20 - 1
1-27023766-C-A c.872C>A p.A291D Missense 1/20 - 1
1-27023766-C-G c.872C>G p.A291G Missense 1/20 - 1
1-27023766-C-T c.872C>T p.A291V Missense 1/20 - 1
1-27023768-A-C c.874A>C p.T292P Missense 1/20 - 1
1-27023768-A-G c.874A>G p.T292A Missense 1/20 - 1
1-27023768-CA-C c.874del p.T292Pfs*71 Frameshift 1/20 - 1
1-27023768-A-T c.874A>T p.T292S Missense 1/20 - 1
1-27023769-C-G c.875C>G p.T292S Missense 1/20 - 1
1-27023769-C-T c.875C>T p.T292I Missense 1/20 - 2
1-27023770-C-A c.876C>A p.T292= Synonymous 1/20 - 1
1-27023770-C-G c.876C>G p.T292= Synonymous 1/20 - 1
1-27023770-C-T c.876C>T p.T292= Synonymous 1/20 - 1
1-27023771-C-A c.877C>A p.P293T Missense 1/20 - 1
1-27023772-C-T c.878C>T p.P293L Missense 1/20 - 2
1-27023768-A-AC c.879dup p.T294Hfs*106 Frameshift 1/20 - 1
1-27023768-AC-A c.879del p.T294Pfs*69 Frameshift 1/20 - 1
1-27023774-A-C c.880A>C p.T294P Missense 1/20 - 4
1-27023774-A-G c.880A>G p.T294A Missense 1/20 - 2
1-27023774-A-AC c.883dup p.L295Pfs*105 Frameshift 1/20 - 1
1-27023777-C-A c.883C>A p.L295I Missense 1/20 - 1
1-27023778-T-C c.884T>C p.L295P Missense 1/20 - 1
1-27023779-TC-T c.885del p.N296Tfs*67 Frameshift 1/20 - 1
1-27023778-TCAACCAA-T c.886_892del p.N296Cfs*65 Frameshift 1/20 - 1
1-27023780-A-C c.886A>C p.N296H Missense 1/20 - 1
1-27023783-C-T c.889C>T p.Q297* Nonsense 1/20 - 2
1-27023784-A-C c.890A>C p.Q297P Missense 1/20 - 1
1-27023785-A-C c.891A>C p.Q297H Missense 1/20 - 2
1-27023785-A-T c.891A>T p.Q297H Missense 1/20 - 1
1-27023786-C-T c.892C>T p.L298= Synonymous 1/20 - 1
1-27023787-T-A c.893T>A p.L298Q Missense 1/20 - 1
1-27023787-T-G c.893T>G p.L298R Missense 1/20 - 1
1-27023788-G-C c.894G>C p.L298= Synonymous 1/20 - 1
1-27023789-C-A c.895C>A p.L299I Missense 1/20 - 1
1-27023789-C-T c.895C>T p.L299F Missense 1/20 - 1
1-27023792-A-G c.898A>G p.T300A Missense 1/20 - 1
1-27023792-A-T c.898A>T p.T300S Missense 1/20 - 1
1-27023795-T-A c.901T>A p.S301T Missense 1/20 - 1
1-27023796-C-A c.902C>A p.S301* Nonsense 1/20 - 2
1-27023796-TC-T c.902del p.S301Cfs*62 Frameshift 1/20 - 1
1-27023797-G-A c.903G>A p.S301= Synonymous 1/20 - 3
1-27023797-G-C c.903G>C p.S301= Synonymous 1/20 - 3
1-27023797-G-T c.903G>T p.S301= Synonymous 1/20 - 3
1-27023798-C-A c.904C>A p.P302T Missense 1/20 - 1
1-27023798-C-T c.904C>T p.P302S Missense 1/20 - 1
1-27023799-C-T c.905C>T p.P302L Missense 1/20 - 1
1-27023800-C-A c.906C>A p.P302= Synonymous 1/20 - 2
1-27023801-AG-TT c.907_908delinsTT p.S303F Missense 1/20 - 1
1-27023802-G-C c.908G>C p.S303T Missense 1/20 - 5
1-27023802-G-T c.908G>T p.S303I Missense 1/20 - 1
1-27023801-A-C c.907A>C p.S303R Missense 1/20 - 1
1-27023803-C-A c.909C>A p.S303R Missense 1/20 - 1
1-27023803-C-G c.909C>G p.S303R Missense 1/20 - 1
1-27023804-T-C c.910T>C p.S304P Missense 1/20 - 1
1-27023805-C-A c.911C>A p.S304* Nonsense 1/20 - 3
1-27023805-CG-TT c.911_912delinsTT p.S304F Missense 1/20 - 1
1-27023805-C-T c.911C>T p.S304L Missense 1/20 - 2
1-27023808-C-A c.914C>A p.A305D Missense 1/20 - 1
1-27023808-C-T c.914C>T p.A305V Missense 1/20 - 2
1-27023810-C-A c.916C>A p.R306= Synonymous 1/20 - 1
1-27023810-CG-TA c.916_917delinsTA p.R306* Nonsense 1/20 - 3
1-27023810-C-T c.916C>T p.R306W Missense 1/20 - 7
1-27023812-G-A c.918G>A p.R306= Synonymous 1/20 - 1
1-27023812-G-C c.918G>C p.R306= Synonymous 1/20 - 1
1-27023812-G-T c.918G>T p.R306= Synonymous 1/20 - 2
1-27023808-CCCGGGGCTA-C c.917_925del p.R306_Y308del InFrameDeletion 1/20 - 1
1-27023811-GG-AT c.917_918delinsAT p.R306H Missense 1/20 - 2
1-27023813-GGGCTACCAGGGC-G c.919_930del p.G307_G310del InFrameDeletion 1/20 - 1
1-27023814-G-A c.920G>A p.G307D Missense 1/20 - 1
1-27023807-GCCCGGGGCTACCAGGGCTAC-G c.921_940del p.Y308Rfs*85 Frameshift 1/20 - 5
1-27023815-C-CT c.922dup p.Y308Lfs*92 Frameshift 1/20 - 1
1-27023816-T-C c.922T>C p.Y308H Missense 1/20 - 1
1-27023817-A-G c.923A>G p.Y308C Missense 1/20 - 1
1-27023818-C-A c.924C>A p.Y308* Nonsense 1/20 - 2
1-27023818-C-G c.924C>G p.Y308* Nonsense 1/20 - 2
1-27023819-C-A c.925C>A p.Q309K Missense 1/20 - 1
1-27023819-C-G c.925C>G p.Q309E Missense 1/20 - 1
1-27023819-C-T c.925C>T p.Q309* Nonsense 1/20 - 6
1-27023820-A-G c.926A>G p.Q309R Missense 1/20 - 1
1-27023821-G-C c.927G>C p.Q309H Missense 1/20 - 2
1-27023821-G-T c.927G>T p.Q309H Missense 1/20 - 2
1-27023822-G-A c.928G>A p.G310S Missense 1/20 - 1
1-27023822-G-C c.928G>C p.G310R Missense 1/20 - 1
1-27023820-AG-A c.929del p.G310Afs*53 Frameshift 1/20 - 1
1-27023823-G-A c.929G>A p.G310D Missense 1/20 - 1
1-27023823-G-C c.929G>C p.G310A Missense 1/20 - 1
1-27023823-GC-AG c.929_930delinsAG p.G310E Missense 1/20 - 2
1-27023825-T-A c.931T>A p.Y311N Missense 1/20 - 1
1-27023828-C-T c.934C>T p.P312S Missense 1/20 - 1
1-27023830-C-T c.936C>T p.P312= Synonymous 1/20 - 1
1-27023831-G-A c.937G>A p.G313R Missense 1/20 - 2
1-27023831-GGG-AGC c.937_939delinsAGC p.G313S Missense 1/20 - 1
1-27023831-GGG-TGT c.937_939delinsTGT p.G313C Missense 1/20 - 1
1-27023832-G-A c.938G>A p.G313E Missense 1/20 - 1
1-27023834-G-A c.940G>A p.G314S Missense 1/20 - 1
1-27023834-G-C c.940G>C p.G314R Missense 1/20 - 2
1-27023830-C-CG c.941dup p.D315Rfs*85 Frameshift 1/20 - 2
1-27023830-CG-C c.941del p.G314Afs*49 Frameshift 1/20 - 4
1-27023835-G-T c.941G>T p.G314V Missense 1/20 - 1
1-27023836-C-A c.942C>A p.G314= Synonymous 1/20 - 1
1-27023836-C-CA c.942_943insA p.D315Rfs*85 Frameshift 1/20 - 1
1-27023837-G-A c.943G>A p.D315N Missense 1/20 - 1
1-27023829-CCGGGGGCGACTACAGTGGCGGGCCCCAGGA-C c.944_973del p.D315_G324del InFrameDeletion 1/20 - 1
1-27023838-A-C c.944A>C p.D315A Missense 1/20 - 1
1-27023840-T-C c.946T>C p.Y316H Missense 1/20 - 1
1-27023841-A-G c.947A>G p.Y316C Missense 1/20 - 1
1-27023842-C-A c.948C>A p.Y316* Nonsense 1/20 - 1
1-27023842-C-G c.948C>G p.Y316* Nonsense 1/20 - 1
1-27023842-C-T c.948C>T p.Y316= Synonymous 1/20 - 1
1-27023843-A-G c.949A>G p.S317G Missense 1/20 - 7
1-27023843-AG-TT c.949_950delinsTT p.S317F Missense 1/20 - 1
1-27023843-A-T c.949A>T p.S317C Missense 1/20 - 1
1-27023844-G-A c.950G>A p.S317N Missense 1/20 - 3
1-27023845-T-C c.951T>C p.S317= Synonymous 1/20 - 2
1-27023847-G-C c.953G>C p.G318A Missense 1/20 - 1
1-27023847-G-T c.953G>T p.G318V Missense 1/20 - 1
1-27023849-G-A c.955G>A p.G319R Missense 1/20 - 4
1-27023849-G-C c.955G>C p.G319R Missense 1/20 - 1
1-27023849-G-T c.955G>T p.G319W Missense 1/20 - 2
1-27023850-G-T c.956G>T p.G319V Missense 1/20 - 1
1-27023852-C-G c.958C>G p.P320A Missense 1/20 - 1
1-27023852-C-T c.958C>T p.P320S Missense 1/20 - 2
1-27023853-C-T c.959C>T p.P320L Missense 1/20 - 1
1-27023855-C-G c.961C>G p.Q321E Missense 1/20 - 3
1-27023855-C-T c.961C>T p.Q321* Nonsense 1/20 - 6
1-27023856-A-C c.962A>C p.Q321P Missense 1/20 - 3
1-27023859-A-C c.965A>C p.D322A Missense 1/20 - 1
1-27023859-A-G c.965A>G p.D322G Missense 1/20 - 2
1-27023860-C-A c.966C>A p.D322E Missense 1/20 - 1
1-27023860-C-G c.966C>G p.D322E Missense 1/20 - 1
1-27023860-C-T c.966C>T p.D322= Synonymous 1/20 - 1
1-27023861-GGG-AGC c.967_969delinsAGC p.G323S Missense 1/20 - 1
1-27023861-G-T c.967G>T p.G323W Missense 1/20 - 1
1-27023860-CGGGGGCGCCGGCAA-C c.970_983del p.G324Pfs*71 Frameshift 1/20 - 1
1-27023864-G-T c.970G>T p.G324C Missense 1/20 - 1
1-27023860-C-CG c.971dup p.A325Rfs*75 Frameshift 1/20 - 1
1-27023860-CG-C c.971del p.G324Afs*39 Frameshift 1/20 - 3
1-27023862-GGGGCGCC-G c.971_977del p.G324Afs*37 Frameshift 1/20 - 1
1-27023865-G-T c.971G>T p.G324V Missense 1/20 - 1
1-27023866-C-A c.972C>A p.G324= Synonymous 1/20 - 1
1-27023866-C-G c.972C>G p.G324= Synonymous 1/20 - 1
1-27023866-C-T c.972C>T p.G324= Synonymous 1/20 - 1
1-27023864-GGC-G c.973_974del p.A325Rfs*74 Frameshift 1/20 - 1
1-27023867-G-A c.973G>A p.A325T Missense 1/20 - 2
1-27023867-G-T c.973G>T p.A325S Missense 1/20 - 1
1-27023868-C-T c.974C>T p.A325V Missense 1/20 - 1
1-27023869-C-G c.975C>G p.A325= Synonymous 1/20 - 1
1-27023870-G-A c.976G>A p.G326S Missense 1/20 - 2
1-27023870-GGC-TGA c.976_978delinsTGA p.G326* Nonsense 1/20 - 1
1-27023871-G-A c.977G>A p.G326D Missense 1/20 - 2
1-27023872-C-CT c.978_979insT p.K327* Nonsense 1/20 - 2
1-27023873-A-T c.979A>T p.K327* Nonsense 1/20 - 2
1-27023874-A-C c.980A>C p.K327T Missense 1/20 - 1
1-27023875-G-A c.981G>A p.K327= Synonymous 1/20 - 1
1-27023876-G-A c.982G>A p.G328S Missense 1/20 - 1
1-27023877-G-A c.983G>A p.G328D Missense 1/20 - 1
1-27023879-C-A c.985C>A p.P329T Missense 1/20 - 1
1-27023879-C-T c.985C>T p.P329S Missense 1/20 - 1
1-27023880-C-G c.986C>G p.P329R Missense 1/20 - 3
1-27023882-G-C c.988G>C p.A330P Missense 1/20 - 1
1-27023883-C-T c.989C>T p.A330V Missense 1/20 - 1
1-27023885-G-A c.991G>A p.D331N Missense 1/20 - 2
1-27023885-G-T c.991G>T p.D331Y Missense 1/20 - 1
1-27023886-A-C c.992A>C p.D331A Missense 1/20 - 1
1-27023888-A-G c.994A>G p.M332V Missense 1/20 - 1
1-27023889-T-C c.995T>C p.M332T Missense 1/20 - 1
1-27023890-G-A c.996G>A p.M332I Missense 1/20 - 1
1-27023890-G-C c.996G>C p.M332I Missense 1/20 - 1
1-27023890-G-T c.996G>T p.M332I Missense 1/20 - 1
1-27023889-TG-T c.997del p.A333Pfs*30 Frameshift 1/20 - 1
1-27023891-GCC-ATG c.997_999delinsATG p.A333M Missense 1/20 - 1
1-27023895-C-A c.1001C>A p.S334* Nonsense 1/20 - 5
1-27023895-C-G c.1001C>G p.S334W Missense 1/20 - 3
1-27023895-C-T c.1001C>T p.S334L Missense 1/20 - 6
1-27023897-C-A c.1003C>A p.Q335K Missense 1/20 - 1
1-27023897-C-T c.1003C>T p.Q335* Nonsense 1/20 - 9
1-27023899-G-C c.1005G>C p.Q335H Missense 1/20 - 2
1-27023901-G-A c.1007G>A p.C336Y Missense 1/20 - 1
1-27023901-G-T c.1007G>T p.C336F Missense 1/20 - 1
1-27023902-T-A c.1008T>A p.C336* Nonsense 1/20 - 1
1-27023902-T-C c.1008T>C p.C336= Synonymous 1/20 - 3
1-27023904-G-A c.1010G>A p.W337* Nonsense 1/20 - 5
1-27023905-G-A c.1011G>A p.W337* Nonsense 1/20 - 6
1-27023907-G-A c.1013G>A p.G338E Missense 1/20 - 1
1-27023907-G-C c.1013G>C p.G338A Missense 1/20 - 1
1-27023907-G-T c.1013G>T p.G338V Missense 1/20 - 1
1-27023903-TG-T c.1015del p.A339Lfs*24 Frameshift 1/20 - 7
1-27023903-T-TG c.1015dup p.A339Gfs*61 Frameshift 1/20 - 5
1-27023909-G-A c.1015G>A p.A339T Missense 1/20 - 1
1-27023909-GC-CT c.1015_1016delinsCT p.A339L Missense 1/20 - 1
1-27023910-C-G c.1016C>G p.A339G Missense 1/20 - 1
1-27023910-C-T c.1016C>T p.A339V Missense 1/20 - 1
1-27023910-GC-G c.1016del p.A339Vfs*24 Frameshift 1/20 - 1
1-27023913-C-A c.1019C>A p.A340E Missense 1/20 - 1
1-27023913-C-T c.1019C>T p.A340V Missense 1/20 - 1
1-27023915-G-A c.1021G>A p.A341T Missense 1/20 - 1
1-27023916-C-T c.1022C>T p.A341V Missense 1/20 - 1
1-27023917-G-C c.1023G>C p.A341= Synonymous 1/20 - 1
1-27023918-G-A c.1024G>A p.A342T Missense 1/20 - 2
1-27023918-G-T c.1024G>T p.A342S Missense 1/20 - 1
1-27023919-C-T c.1025C>T p.A342V Missense 1/20 - 3
1-27023911-TGCGGCGGCGGCAGCTGCG-T c.1026_1043del p.A344_A349del InFrameDeletion 1/20 - 1
1-27023921-G-A c.1027G>A p.A343T Missense 1/20 - 1
1-27023921-G-C c.1027G>C p.A343P Missense 1/20 - 1
1-27023921-G-T c.1027G>T p.A343S Missense 1/20 - 1
1-27023922-C-G c.1028C>G p.A343G Missense 1/20 - 1
1-27023922-C-T c.1028C>T p.A343V Missense 1/20 - 2
1-27023908-GGCTGCGGCGGCGGCA-G c.1029_1043del p.A345_A349del InFrameDeletion 1/20 - 5
1-27023920-GGCA-G c.1029_1031del p.A349del InFrameDeletion 1/20 - 1
1-27023923-A-C c.1029A>C p.A343= Synonymous 1/20 - 1
1-27023923-A-G c.1029A>G p.A343= Synonymous 1/20 - 2
1-27023923-A-T c.1029A>T p.A343= Synonymous 1/20 - 1
1-27023924-G-A c.1030G>A p.A344T Missense 1/20 - 4
1-27023923-AGCTGCGGCGGC-A c.1031_1041del p.A344Gfs*52 Frameshift 1/20 - 1
1-27023925-C-G c.1031C>G p.A344G Missense 1/20 - 1
1-27023925-C-T c.1031C>T p.A344V Missense 1/20 - 1
1-27023925-CT-AG c.1031_1032inv p.A344E Missense 1/20 - 1
1-27023923-AGCTGCGGCG-A c.1032_1040del p.A347_A349del InFrameDeletion 1/20 - 1
1-27023923-AGCTGCGGCGGCG-A c.1032_1043del p.A346_A349del InFrameDeletion 1/20 - 1
1-27023923-AGCTGCGGCGGCGGCC-A c.1032_1046del p.A345_A349del InFrameDeletion 1/20 - 1
1-27023926-T-G c.1032T>G p.A344= Synonymous 1/20 - 1
1-27023927-G-A c.1033G>A p.A345T Missense 1/20 - 3
1-27023927-TGCGGCGGCGGCCGCC-T c.1033_1047del p.A345_A349del InFrameDeletion 1/20 - 3
1-27023927-G-GC c.1034dup p.A346Gfs*54 Frameshift 1/20 - 1
1-27023929-G-GT c.1035_1036insT p.A346Cfs*54 Frameshift 1/20 - 1
1-27023930-G-A c.1036G>A p.A346T Missense 1/20 - 1
1-27023931-C-T c.1037C>T p.A346V Missense 1/20 - 1
1-27023931-GCGGCGGCCGCC-G c.1037_1047del p.A346Vfs*50 Frameshift 1/20 - 1
1-27023933-G-A c.1039G>A p.A347T Missense 1/20 - 5
1-27023933-G-C c.1039G>C p.A347P Missense 1/20 - 1
1-27023933-G-GA c.1039_1040insA p.A347Dfs*53 Frameshift 1/20 - 1
1-27023932-G-GGCA c.1040_1041insAGC p.A349dup InFrameInsertion 1/20 - 3
1-27023934-C-A c.1040C>A p.A347E Missense 1/20 - 1
1-27023934-C-T c.1040C>T p.A347V Missense 1/20 - 2
1-27023926-TGCG-T c.1041_1043del p.A349del InFrameDeletion 1/20 - 1
1-27023935-G-C c.1041G>C p.A347= Synonymous 1/20 - 1
1-27023934-CG-C c.1042del p.A348Pfs*15 Frameshift 1/20 - 1
1-27023936-G-A c.1042G>A p.A348T Missense 1/20 - 1
1-27023936-G-C c.1042G>C p.A348P Missense 1/20 - 1
1-27023938-C-A c.1044C>A p.A348= Synonymous 1/20 - 1
1-27023938-C-G c.1044C>G p.A348= Synonymous 1/20 - 1
1-27023938-C-T c.1044C>T p.A348= Synonymous 1/20 - 1
1-27023935-GGCC-G c.1045_1047del p.A349del InFrameDeletion 1/20 - 1
1-27023939-G-A c.1045G>A p.A349T Missense 1/20 - 1
1-27023939-G-T c.1045G>T p.A349S Missense 1/20 - 1
1-27023940-C-T c.1046C>T p.A349V Missense 1/20 - 4
1-27023942-T-C c.1048T>C p.S350P Missense 1/20 - 1
1-27023943-C-A c.1049C>A p.S350* Nonsense 1/20 - 2
1-27023944-G-A c.1050G>A p.S350= Synonymous 1/20 - 1
1-27023944-G-C c.1050G>C p.S350= Synonymous 1/20 - 1
1-27023944-G-T c.1050G>T p.S350= Synonymous 1/20 - 1
1-27023945-G-A c.1051G>A p.G351R Missense 1/20 - 1
1-27023945-G-C c.1051G>C p.G351R Missense 1/20 - 1
1-27023943-CG-C c.1052del p.G351Efs*12 Frameshift 1/20 - 1
1-27023946-G-A c.1052G>A p.G351E Missense 1/20 - 1
1-27023944-GGGAGGGGCCCAACAAA-G c.1055_1070del p.G352Afs*6 Frameshift 1/20 - 3
1-27023949-G-A c.1055G>A p.G352E Missense 1/20 - 2
1-27023949-G-C c.1055G>C p.G352A Missense 1/20 - 2
1-27023950-G-A c.1056G>A p.G352= Synonymous 1/20 - 1
1-27023950-G-C c.1056G>C p.G352= Synonymous 1/20 - 2
1-27023950-G-T c.1056G>T p.G352= Synonymous 1/20 - 1
1-27023947-AG-A c.1057del p.A353Pfs*10 Frameshift 1/20 - 1
1-27023951-G-T c.1057G>T p.A353S Missense 1/20 - 3
1-27023952-C-G c.1058C>G p.A353G Missense 1/20 - 1
1-27023952-C-T c.1058C>T p.A353V Missense 1/20 - 1
1-27023951-GC-G c.1060del p.Q354Nfs*9 Frameshift 1/20 - 1
1-27023954-C-T c.1060C>T p.Q354* Nonsense 1/20 - 6
1-27023957-C-T c.1063C>T p.Q355* Nonsense 1/20 - 3
1-27023959-A-AT c.1065_1066insT p.R356* Nonsense 1/20 - 1
1-27023960-AAG-A c.1066_1067del p.R356Efs*43 Frameshift 1/20 - 1
1-27023961-G-A c.1067G>A p.R356K Missense 1/20 - 3
1-27023962-G-C c.1068G>C p.R356S Missense 1/20 - 1
1-27023962-G-T c.1068G>T p.R356S Missense 1/20 - 2
1-27023963-AGC-TGA c.1069_1071delinsTGA p.S357* Nonsense 1/20 - 1
1-27023962-GAGCC-G c.1070_1073del p.S357Tfs*5 Frameshift 1/20 - 1
1-27023964-G-A c.1070G>A p.S357N Missense 1/20 - 2
1-27023966-C-T c.1072C>T p.H358Y Missense 1/20 - 1
1-27023967-A-C c.1073A>C p.H358P Missense 1/20 - 1
1-27023967-AC-A c.1075del p.H359Tfs*4 Frameshift 1/20 - 1
1-27023969-C-A c.1075C>A p.H359N Missense 1/20 - 1
1-27023969-C-T c.1075C>T p.H359Y Missense 1/20 - 6
1-27023968-CCA-C c.1076_1077del p.H359Rfs*40 Frameshift 1/20 - 1
1-27023970-A-C c.1076A>C p.H359P Missense 1/20 - 1
1-27023970-A-G c.1076A>G p.H359R Missense 1/20 - 1
1-27023967-ACCACGCGC-A c.1077_1084del p.A360Efs*37 Frameshift 1/20 - 1
1-27023971-CGCGCCCAT-C c.1079_1086del p.A360Efs*37 Frameshift 1/20 - 1
1-27023973-C-T c.1079C>T p.A360V Missense 1/20 - 1
1-27023975-C-T c.1081C>T p.P361S Missense 1/20 - 2
1-27023976-CC-AA c.1082_1083delinsAA p.P361Q Missense 1/20 - 1
1-27023976-C-T c.1082C>T p.P361L Missense 1/20 - 1
1-27023980-G-A c.1086G>A p.M362I Missense 1/20 - 2
1-27023980-G-C c.1086G>C p.M362I Missense 1/20 - 1
1-27023980-G-T c.1086G>T p.M362I Missense 1/20 - 3
1-27023981-AG-TT c.1087_1088delinsTT p.S363F Missense 1/20 - 2
1-27023983-C-T c.1089C>T p.S363= Synonymous 1/20 - 1
1-27023984-C-G c.1090C>G p.P364A Missense 1/20 - 1
1-27023984-C-T c.1090C>T p.P364S Missense 1/20 - 2
1-27023982-GC-G c.1092del p.S366Afs*25 Frameshift 1/20 - 2
1-27023988-G-A c.1094G>A p.G365E Missense 1/20 - 3
1-27023988-G-C c.1094G>C p.G365A Missense 1/20 - 1
1-27023988-GG-AC c.1094_1095delinsAC p.G365D Missense 1/20 - 1
1-27023989-G-GT c.1095_1096insT p.S366* Nonsense 1/20 - 1
1-27023991-G-A c.1097G>A p.S366N Missense 1/20 - 2
1-27023992-C-T c.1098C>T p.S366= Synonymous 1/20 - 2
1-27023989-GAGC-G c.1099_1101del p.S367del InFrameDeletion 1/20 - 1
1-27023996-GGC-TGG c.1102_1104delinsTGG p.G368W Missense 1/20 - 1
1-27023997-G-A c.1103G>A p.G368D Missense 1/20 - 1
1-27023999-G-C c.1105G>C p.G369R Missense 1/20 - 1
1-27024001-C-G c.1107C>G p.G369= Synonymous 1/20 - 1
1-27024001-C-T c.1107C>T p.G369= Synonymous 1/20 - 1
1-27024002-G-A c.1108G>A p.G370R Missense 1/20 - 1
1-27024002-GGG-AGC c.1108_1110delinsAGC p.G370S Missense 1/20 - 2
1-27024002-GGG-TGT c.1108_1110delinsTGT p.G370C Missense 1/20 - 1
1-27024002-G-GGC c.1109_1110insCG p.Q372Gfs*20 Frameshift 1/20 - 1
1-27024006-G-GCCT c.1112_1113insCCT p.G371_Q372insL InFrameInsertion 1/20 - 1
1-27024001-C-CG c.1113dup p.Q372Afs*28 Frameshift 1/20 - 6
1-27024001-CG-C c.1113del p.Q372Sfs*19 Frameshift 1/20 - 7
1-27024007-G-GC c.1114dup p.Q372Pfs*28 Frameshift 1/20 - 1
1-27024008-C-G c.1114C>G p.Q372E Missense 1/20 - 1
1-27024008-C-T c.1114C>T p.Q372* Nonsense 1/20 - 4
1-27024010-G-C c.1116G>C p.Q372H Missense 1/20 - 1
1-27024011-C-A c.1117C>A p.P373T Missense 1/20 - 1
1-27024011-C-G c.1117C>G p.P373A Missense 1/20 - 1
1-27024011-C-T c.1117C>T p.P373S Missense 1/20 - 3
1-27024012-C-T c.1118C>T p.P373L Missense 1/20 - 2
1-27024013-G-C c.1119G>C p.P373= Synonymous 1/20 - 1
1-27024014-C-G c.1120C>G p.L374V Missense 1/20 - 1
1-27024015-T-C c.1121T>C p.L374P Missense 1/20 - 1
1-27024016-C-A c.1122C>A p.L374= Synonymous 1/20 - 1
1-27024016-C-G c.1122C>G p.L374= Synonymous 1/20 - 1
1-27024016-C-T c.1122C>T p.L374= Synonymous 1/20 - 1
1-27024017-G-A c.1123G>A p.A375T Missense 1/20 - 2
1-27024017-G-T c.1123G>T p.A375S Missense 1/20 - 1
1-27024018-C-T c.1124C>T p.A375V Missense 1/20 - 1
1-27024021-GG-AT c.1127_1128delinsAT p.R376H Missense 1/20 - 1
1-27024023-A-C c.1129A>C p.T377P Missense 1/20 - 1
1-27024025-C-A c.1131C>A p.T377= Synonymous 1/20 - 2
1-27024025-C-G c.1131C>G p.T377= Synonymous 1/20 - 2
1-27024025-C-T c.1131C>T p.T377= Synonymous 1/20 - 2
1-27024026-C-T c.1132C>T p.P378S Missense 1/20 - 2
1-27024027-C-T c.1133C>T p.P378L Missense 1/20 - 2
1-27024028-T-C c.1134T>C p.P378= Synonymous 1/20 - 1
1-27024029-C-A c.1135C>A p.Q379K Missense 1/20 - 1
1-27024029-C-G c.1135C>G p.Q379E Missense 1/20 - 1
1-27024029-C-T c.1135C>T p.Q379* Nonsense 1/20 - 4
1-27024031-G-C c.1137G>C p.Q379H Missense 1/20 - 1
1-27024031-G-T c.1137G>T p.Q379H Missense 1/20 - 1
1-27024080-T-G c.1137+49T>G - IntronicSNV - 1/19 2
1-27024084-T-G c.1137+53T>G - IntronicSNV - 1/19 1
1-27024241-A-G c.1137+210A>G - IntronicSNV - 1/19 1
1-27024634-TG-T c.1137+605del - IntronicDeletion - 1/19 1
1-27024652-AG-A c.1137+621del - IntronicDeletion - 1/19 1
1-27024892-T-C c.1137+861T>C - IntronicSNV - 1/19 1
1-27024962-T-C c.1137+931T>C - IntronicSNV - 1/19 1
1-27025129-GT-G c.1137+1104del - IntronicDeletion - 1/19 1
1-27026987-C-A c.1137+2956C>A - IntronicSNV - 1/19 1
1-27026987-C-G c.1137+2956C>G - IntronicSNV - 1/19 1
1-27028221-A-G c.1137+4190A>G - IntronicSNV - 1/19 1
1-27037035-C-A c.1137+13004C>A - IntronicSNV - 1/19 1
1-27037154-T-A c.1137+13123T>A - IntronicSNV - 1/19 1
1-27037154-T-G c.1137+13123T>G - IntronicSNV - 1/19 1
1-27037575-A-G c.1137+13544A>G - IntronicSNV - 1/19 1
1-27038578-G-GA c.1137+14556dup - IntronicInsertion - 1/19 1
1-27039228-C-T c.1137+15197C>T - IntronicSNV - 1/19 1
1-27041714-T-C c.1138-14428T>C - IntronicSNV - 1/19 1
1-27052080-G-A c.1138-4062G>A - IntronicSNV - 1/19 2
1-27056142-C-A c.1138C>A p.P380T Missense 2/20 - 2
1-27056143-C-T c.1139C>T p.P380L Missense 2/20 - 1
1-27056144-A-C c.1140A>C p.P380= Synonymous 2/20 - 1
1-27056144-A-G c.1140A>G p.P380= Synonymous 2/20 - 5
1-27056144-A-T c.1140A>T p.P380= Synonymous 2/20 - 1
1-27056145-TC-CT c.1141_1142delinsCT p.S381L Missense 2/20 - 1
1-27056147-C-T c.1143C>T p.S381= Synonymous 2/20 - 3
1-27056149-G-A c.1145G>A p.S382N Missense 2/20 - 1
1-27056149-G-C c.1145G>C p.S382T Missense 2/20 - 2
1-27056150-T-C c.1146T>C p.S382= Synonymous 2/20 - 1
1-27056151-C-G c.1147C>G p.P383A Missense 2/20 - 1
1-27056151-C-T c.1147C>T p.P383S Missense 2/20 - 5
1-27056150-T-TC c.1148dup p.M384Nfs*16 Frameshift 2/20 - 1
1-27056152-C-A c.1148C>A p.P383Q Missense 2/20 - 1
1-27056152-CA-C c.1150del p.M384Wfs*7 Frameshift 2/20 - 1
1-27056154-A-G c.1150A>G p.M384V Missense 2/20 - 2
1-27056155-T-G c.1151T>G p.M384R Missense 2/20 - 1
1-27056156-G-A c.1152G>A p.M384I Missense 2/20 - 1
1-27056156-G-C c.1152G>C p.M384I Missense 2/20 - 1
1-27056156-G-T c.1152G>T p.M384I Missense 2/20 - 1
1-27056157-G-A c.1153G>A p.D385N Missense 2/20 - 3
1-27056159-T-A c.1155T>A p.D385E Missense 2/20 - 1
1-27056159-T-G c.1155T>G p.D385E Missense 2/20 - 1
1-27056160-C-T c.1156C>T p.Q386* Nonsense 2/20 - 17
1-27056161-A-T c.1157A>T p.Q386L Missense 2/20 - 1
1-27056160-CAGATGGGCAAG-C c.1158_1168del p.Q386Hfs*10 Frameshift 2/20 - 1
1-27056163-A-C c.1159A>C p.M387L Missense 2/20 - 1
1-27056163-A-T c.1159A>T p.M387L Missense 2/20 - 1
1-27056164-T-C c.1160T>C p.M387T Missense 2/20 - 1
1-27056164-T-G c.1160T>G p.M387R Missense 2/20 - 1
1-27056165-G-A c.1161G>A p.M387I Missense 2/20 - 2
1-27056165-G-C c.1161G>C p.M387I Missense 2/20 - 3
1-27056165-G-T c.1161G>T p.M387I Missense 2/20 - 2
1-27056166-G-A c.1162G>A p.G388S Missense 2/20 - 4
1-27056166-G-C c.1162G>C p.G388R Missense 2/20 - 1
1-27056166-G-T c.1162G>T p.G388C Missense 2/20 - 1
1-27056167-G-A c.1163G>A p.G388D Missense 2/20 - 4
1-27056169-A-C c.1165A>C p.K389Q Missense 2/20 - 5
1-27056169-A-T c.1165A>T p.K389* Nonsense 2/20 - 2
1-27056170-A-C c.1166A>C p.K389T Missense 2/20 - 1
1-27056171-G-C c.1167G>C p.K389N Missense 2/20 - 1
1-27056171-G-T c.1167G>T p.K389N Missense 2/20 - 1
1-27056172-A-AT c.1169dup p.M390Ifs*10 Frameshift 2/20 - 1
1-27056174-G-A c.1170G>A p.M390I Missense 2/20 - 1
1-27056174-G-C c.1170G>C p.M390I Missense 2/20 - 1
1-27056174-G-GT c.1170_1171insT p.R391* Nonsense 2/20 - 1
1-27056174-G-T c.1170G>T p.M390I Missense 2/20 - 1
1-27056175-A-G c.1171A>G p.R391G Missense 2/20 - 1
1-27056175-AGA-CAT c.1171_1173delinsCAT p.R391H Missense 2/20 - 1
1-27056175-AG-CA c.1171_1172delinsCA p.R391Q Missense 2/20 - 1
1-27056175-A-T c.1171A>T p.R391* Nonsense 2/20 - 1
1-27056176-G-A c.1172G>A p.R391K Missense 2/20 - 2
1-27056175-A-C c.1171A>C p.R391= Synonymous 2/20 - 1
1-27056177-A-G c.1173A>G p.R391= Synonymous 2/20 - 1
1-27056178-C-T c.1174C>T p.P392S Missense 2/20 - 5
1-27056179-C-A c.1175C>A p.P392H Missense 2/20 - 3
1-27056179-C-G c.1175C>G p.P392R Missense 2/20 - 1
1-27056179-C-T c.1175C>T p.P392L Missense 2/20 - 1
1-27056181-C-T c.1177C>T p.Q393* Nonsense 2/20 - 22
1-27056182-A-T c.1178A>T p.Q393L Missense 2/20 - 1
1-27056180-TCAGC-T c.1179_1182del p.Q393Hfs*39 Frameshift 2/20 - 1
1-27056184-C-T c.1180C>T p.P394S Missense 2/20 - 7
1-27056187-T-C c.1183T>C p.Y395H Missense 2/20 - 2
1-27056188-A-G c.1184A>G p.Y395C Missense 2/20 - 3
1-27056189-T-A c.1185T>A p.Y395* Nonsense 2/20 - 3
1-27056189-T-G c.1185T>G p.Y395* Nonsense 2/20 - 2
1-27056190-G-A c.1186G>A p.G396S Missense 2/20 - 1
1-27056190-G-T c.1186G>T p.G396C Missense 2/20 - 2
1-27056191-G-A c.1187G>A p.G396D Missense 2/20 - 4
1-27056192-C-A c.1188C>A p.G396= Synonymous 2/20 - 1
1-27056192-C-G c.1188C>G p.G396= Synonymous 2/20 - 3
1-27056192-C-T c.1188C>T p.G396= Synonymous 2/20 - 5
1-27056193-G-A c.1189G>A p.G397R Missense 2/20 - 3
1-27056193-G-C c.1189G>C p.G397R Missense 2/20 - 3
1-27056194-G-A c.1190G>A p.G397E Missense 2/20 - 1
1-27056197-C-T c.1193C>T p.T398I Missense 2/20 - 1
1-27056197-CT-AG c.1193_1194inv p.T398K Missense 2/20 - 1
1-27056197-CT-TG c.1193_1194delinsTG p.T398M Missense 2/20 - 1
1-27056200-A-C c.1196A>C p.N399T Missense 2/20 - 1
1-27056200-A-G c.1196A>G p.N399S Missense 2/20 - 2
1-27056201-C-A c.1197C>A p.N399K Missense 2/20 - 2
1-27056201-C-G c.1197C>G p.N399K Missense 2/20 - 2
1-27056202-C-G c.1198C>G p.P400A Missense 2/20 - 3
1-27056202-C-T c.1198C>T p.P400S Missense 2/20 - 2
1-27056200-AC-A c.1199del p.P400Hfs*33 Frameshift 2/20 - 1
1-27056203-C-A c.1199C>A p.P400Q Missense 2/20 - 1
1-27056203-C-T c.1199C>T p.P400L Missense 2/20 - 2
1-27056206-A-G c.1202A>G p.Y401C Missense 2/20 - 1
1-27056207-C-A c.1203C>A p.Y401* Nonsense 2/20 - 4
1-27056207-C-G c.1203C>G p.Y401* Nonsense 2/20 - 5
1-27056208-T-C c.1204T>C p.S402P Missense 2/20 - 1
1-27056209-C-A c.1205C>A p.S402* Nonsense 2/20 - 2
1-27056209-C-T c.1205C>T p.S402L Missense 2/20 - 4
1-27056210-G-A c.1206G>A p.S402= Synonymous 2/20 - 1
1-27056210-G-C c.1206G>C p.S402= Synonymous 2/20 - 1
1-27056210-G-GC c.1207dup p.Q403Pfs*220 Frameshift 2/20 - 1
1-27056211-C-T c.1207C>T p.Q403* Nonsense 2/20 - 8
1-27056212-A-C c.1208A>C p.Q403P Missense 2/20 - 1
1-27056213-G-A c.1209G>A p.Q403= Synonymous 2/20 - 2
1-27056213-G-C c.1209G>C p.Q403H Missense 2/20 - 1
1-27056213-G-T c.1209G>T p.Q403H Missense 2/20 - 1
1-27056214-C-G c.1210C>G p.Q404E Missense 2/20 - 1
1-27056214-C-T c.1210C>T p.Q404* Nonsense 2/20 - 12
1-27056216-A-C c.1212A>C p.Q404H Missense 2/20 - 2
1-27056216-A-G c.1212A>G p.Q404= Synonymous 2/20 - 1
1-27056216-A-T c.1212A>T p.Q404H Missense 2/20 - 3
1-27056217-C-A c.1213C>A p.Q405K Missense 2/20 - 1
1-27056217-C-T c.1213C>T p.Q405* Nonsense 2/20 - 9
1-27056218-A-G c.1214A>G p.Q405R Missense 2/20 - 1
1-27056220-G-A c.1216G>A p.G406R Missense 2/20 - 3
1-27056220-G-C c.1216G>C p.G406R Missense 2/20 - 1
1-27056220-GG-AC c.1216_1217delinsAC p.G406T Missense 2/20 - 1
1-27056221-G-A c.1217G>A p.G406E Missense 2/20 - 1
1-27056223-C-A c.1219C>A p.P407T Missense 2/20 - 1
1-27056223-C-T c.1219C>T p.P407S Missense 2/20 - 1
1-27056222-A-AC c.1220dup p.P408Sfs*215 Frameshift 2/20 - 1
1-27056224-C-T c.1220C>T p.P407L Missense 2/20 - 4
1-27056226-C-A c.1222C>A p.P408T Missense 2/20 - 1
1-27056226-C-T c.1222C>T p.P408S Missense 2/20 - 2
1-27056227-C-G c.1223C>G p.P408R Missense 2/20 - 1
1-27056227-CG-AT c.1223_1224delinsAT p.P408H Missense 2/20 - 1
1-27056227-C-T c.1223C>T p.P408L Missense 2/20 - 8
1-27056227-C-CG c.1224dup p.S409Vfs*214 Frameshift 2/20 - 1
1-27056228-G-A c.1224G>A p.P408= Synonymous 2/20 - 1
1-27056228-G-C c.1224G>C p.P408= Synonymous 2/20 - 1
1-27056228-G-T c.1224G>T p.P408= Synonymous 2/20 - 2
1-27056229-TCA-AAC c.1225_1227delinsAAC p.S409N Missense 2/20 - 1
1-27056230-C-G c.1226C>G p.S409* Nonsense 2/20 - 3
1-27056230-C-T c.1226C>T p.S409L Missense 2/20 - 1
1-27056231-CA-C c.1227del p.G410Dfs*23 Frameshift 2/20 - 2
1-27056232-G-A c.1228G>A p.G410R Missense 2/20 - 3
1-27056232-G-C c.1228G>C p.G410R Missense 2/20 - 2
1-27056232-G-T c.1228G>T p.G410* Nonsense 2/20 - 2
1-27056233-G-A c.1229G>A p.G410E Missense 2/20 - 1
1-27056233-G-C c.1229G>C p.G410A Missense 2/20 - 1
1-27056235-C-G c.1231C>G p.P411A Missense 2/20 - 1
1-27056236-CG-AT c.1232_1233delinsAT p.P411H Missense 2/20 - 2
1-27056236-C-T c.1232C>T p.P411L Missense 2/20 - 4
1-27056236-C-CG c.1233dup p.Q412Afs*211 Frameshift 2/20 - 1
1-27056237-G-A c.1233G>A p.P411= Synonymous 2/20 - 2
1-27056237-G-C c.1233G>C p.P411= Synonymous 2/20 - 1
1-27056237-G-T c.1233G>T p.P411= Synonymous 2/20 - 1
1-27056238-C-G c.1234C>G p.Q412E Missense 2/20 - 1
1-27056238-C-T c.1234C>T p.Q412* Nonsense 2/20 - 1
1-27056238-GC-G c.1234del p.Q412Sfs*21 Frameshift 2/20 - 1
1-27056239-A-G c.1235A>G p.Q412R Missense 2/20 - 1
1-27056236-CGCA-C c.1236_1238del p.Q413del InFrameDeletion 2/20 - 1
1-27056240-G-C c.1236G>C p.Q412H Missense 2/20 - 1
1-27056241-C-A c.1237C>A p.Q413K Missense 2/20 - 2
1-27056241-CA-AC c.1237_1238delinsAC p.Q413T Missense 2/20 - 1
1-27056241-C-T c.1237C>T p.Q413* Nonsense 2/20 - 4
1-27056242-A-G c.1238A>G p.Q413R Missense 2/20 - 1
1-27056244-G-A c.1240G>A p.G414R Missense 2/20 - 1
1-27056244-G-T c.1240G>T p.G414* Nonsense 2/20 - 4
1-27056245-G-A c.1241G>A p.G414E Missense 2/20 - 6
1-27056245-G-T c.1241G>T p.G414V Missense 2/20 - 1
1-27056247-C-T c.1243C>T p.H415Y Missense 2/20 - 1
1-27056245-GACATGGGT-G c.1244_1251del p.H415Pfs*205 Frameshift 2/20 - 1
1-27056248-A-G c.1244A>G p.H415R Missense 2/20 - 2
1-27056250-G-A c.1246G>A p.G416R Missense 2/20 - 2
1-27056250-G-C c.1246G>C p.G416R Missense 2/20 - 1
1-27056250-GGG-AGC c.1246_1248delinsAGC p.G416S Missense 2/20 - 1
1-27056250-G-T c.1246G>T p.G416W Missense 2/20 - 1
1-27056252-G-A c.1248G>A p.G416= Synonymous 2/20 - 1
1-27056253-T-C c.1249T>C p.Y417H Missense 2/20 - 1
1-27056255-C-A c.1251C>A p.Y417* Nonsense 2/20 - 3
1-27056255-C-G c.1251C>G p.Y417* Nonsense 2/20 - 2
1-27056257-C-A c.1253C>A p.P418Q Missense 2/20 - 1
1-27056257-C-T c.1253C>T p.P418L Missense 2/20 - 1
1-27056258-A-C c.1254A>C p.P418= Synonymous 2/20 - 1
1-27056258-A-G c.1254A>G p.P418= Synonymous 2/20 - 1
1-27056258-A-T c.1254A>T p.P418= Synonymous 2/20 - 1
1-27056259-G-A c.1255G>A p.G419R Missense 2/20 - 1
1-27056259-G-C c.1255G>C p.G419R Missense 2/20 - 1
1-27056261-G-A c.1257G>A p.G419= Synonymous 2/20 - 3
1-27056261-G-C c.1257G>C p.G419= Synonymous 2/20 - 2
1-27056261-G-T c.1257G>T p.G419= Synonymous 2/20 - 2
1-27056262-C-A c.1258C>A p.Q420K Missense 2/20 - 1
1-27056262-C-T c.1258C>T p.Q420* Nonsense 2/20 - 8
1-27056263-A-C c.1259A>C p.Q420P Missense 2/20 - 1
1-27056263-A-T c.1259A>T p.Q420L Missense 2/20 - 1
1-27056265-C-A c.1261C>A p.P421T Missense 2/20 - 1
1-27056266-C-T c.1262C>T p.P421L Missense 2/20 - 7
1-27056264-GCCATACGGGTCCCAGACCCCGCAGCGGTACCCGATGA-G c.1265_1301del p.Y422Cfs*185 Frameshift 2/20 - 1
1-27056270-ACGG-A c.1266_1268del p.Y422_G423delins* MultiAAMissense 2/20 - 1
1-27056271-CGGG-C c.1267_1269del p.G423del InFrameDeletion 2/20 - 1
1-27056271-G-A c.1267G>A p.G423R Missense 2/20 - 3
1-27056271-G-C c.1267G>C p.G423R Missense 2/20 - 2
1-27056271-GG-CA c.1267_1268delinsCA p.G423Q Missense 2/20 - 1
1-27056271-GGG-AGC c.1267_1269delinsAGC p.G423S Missense 2/20 - 1
1-27056272-G-A c.1268G>A p.G423E Missense 2/20 - 2
1-27056272-GG-AC c.1268_1269delinsAC p.G423D Missense 2/20 - 1
1-27056272-G-T c.1268G>T p.G423V Missense 2/20 - 3
1-27056273-G-T c.1269G>T p.G423= Synonymous 2/20 - 2
1-27056274-T-C c.1270T>C p.S424P Missense 2/20 - 1
1-27056274-T-G c.1270T>G p.S424A Missense 2/20 - 1
1-27056275-C-A c.1271C>A p.S424Y Missense 2/20 - 1
1-27056275-C-T c.1271C>T p.S424F Missense 2/20 - 1
1-27056277-C-T c.1273C>T p.Q425* Nonsense 2/20 - 2
1-27056278-A-T c.1274A>T p.Q425L Missense 2/20 - 1
1-27056278-CA-C c.1274del p.Q425Rfs*8 Frameshift 2/20 - 1
1-27056278-CAGA-C c.1274_1276del p.Q425_T426delinsP MultiAAMissense 2/20 - 1
1-27056281-C-A c.1277C>A p.T426N Missense 2/20 - 1
1-27056282-CCCCGCAGCGG-C c.1278_1287del p.P427Tfs*3 Frameshift 2/20 - 1
1-27056283-C-A c.1279C>A p.P427T Missense 2/20 - 1
1-27056283-C-T c.1279C>T p.P427S Missense 2/20 - 3
1-27056280-AC-A c.1280del p.P427Rfs*6 Frameshift 2/20 - 2
1-27056284-CGCAGCGG-T c.1280_1287delinsT p.P427Lfs*4 Frameshift 2/20 - 1
1-27056284-C-T c.1280C>T p.P427L Missense 2/20 - 8
1-27056285-G-A c.1281G>A p.P427= Synonymous 2/20 - 3
1-27056285-G-GC c.1282dup p.Q428Pfs*195 Frameshift 2/20 - 1
1-27056286-C-G c.1282C>G p.Q428E Missense 2/20 - 1
1-27056286-C-T c.1282C>T p.Q428* Nonsense 2/20 - 7
1-27056287-A-G c.1283A>G p.Q428R Missense 2/20 - 1
1-27056288-G-C c.1284G>C p.Q428H Missense 2/20 - 1
1-27056287-AGCG-A c.1285_1287del p.R429del InFrameDeletion 2/20 - 1
1-27056289-CGG-TGT c.1285_1287delinsTGT p.R429C Missense 2/20 - 1
1-27056289-C-T c.1285C>T p.R429W Missense 2/20 - 3
1-27056290-G-A c.1286G>A p.R429Q Missense 2/20 - 3
1-27056292-T-A c.1288T>A p.Y430N Missense 2/20 - 1
1-27056293-A-G c.1289A>G p.Y430C Missense 2/20 - 2
1-27056294-C-A c.1290C>A p.Y430* Nonsense 2/20 - 1
1-27056294-C-T c.1290C>T p.Y430= Synonymous 2/20 - 2
1-27056296-C-A c.1292C>A p.P431Q Missense 2/20 - 2
1-27056296-C-G c.1292C>G p.P431R Missense 2/20 - 1
1-27056296-C-T c.1292C>T p.P431L Missense 2/20 - 4
1-27056297-G-A c.1293G>A p.P431= Synonymous 2/20 - 1
1-27056296-CGATGACCATGCAGGGCCGGGCGCAGAGT-C c.1294_1321del p.M432Pfs*178 Frameshift 2/20 - 1
1-27056298-A-G c.1294A>G p.M432V Missense 2/20 - 1
1-27056299-T-A c.1295T>A p.M432K Missense 2/20 - 1
1-27056300-G-A c.1296G>A p.M432I Missense 2/20 - 1
1-27056300-G-C c.1296G>C p.M432I Missense 2/20 - 1
1-27056300-G-T c.1296G>T p.M432I Missense 2/20 - 1
1-27056301-ACC-TAA c.1297_1299delinsTAA p.T433* Nonsense 2/20 - 1
1-27056302-C-A c.1298C>A p.T433N Missense 2/20 - 1
1-27056302-C-T c.1298C>T p.T433I Missense 2/20 - 2
1-27056301-AC-A c.1299del p.M434Cfs*185 Frameshift 2/20 - 1
1-27056304-A-G c.1300A>G p.M434V Missense 2/20 - 1
1-27056305-T-TG c.1302dup p.Q435Afs*188 Frameshift 2/20 - 1
1-27056306-G-A c.1302G>A p.M434I Missense 2/20 - 1
1-27056307-C-A c.1303C>A p.Q435K Missense 2/20 - 1
1-27056307-C-T c.1303C>T p.Q435* Nonsense 2/20 - 8
1-27056307-C-CA c.1304dup p.R437Pfs*186 Frameshift 2/20 - 1
1-27056308-CA-C c.1304del p.Q435Rfs*184 Frameshift 2/20 - 1
1-27056311-G-A c.1307G>A p.G436D Missense 2/20 - 1
1-27056311-G-C c.1307G>C p.G436A Missense 2/20 - 1
1-27056313-C-A c.1309C>A p.R437= Synonymous 2/20 - 1
1-27056313-CG-AA c.1309_1310delinsAA p.R437K Missense 2/20 - 1
1-27056313-C-T c.1309C>T p.R437W Missense 2/20 - 2
1-27056315-G-A c.1311G>A p.R437= Synonymous 2/20 - 1
1-27056315-G-C c.1311G>C p.R437= Synonymous 2/20 - 1
1-27056315-G-T c.1311G>T p.R437= Synonymous 2/20 - 1
1-27056314-G-A c.1310G>A p.R437Q Missense 2/20 - 2
1-27056314-GG-AT c.1310_1311delinsAT p.R437H Missense 2/20 - 1
1-27056316-G-A c.1312G>A p.A438T Missense 2/20 - 2
1-27056317-C-T c.1313C>T p.A438V Missense 2/20 - 6
1-27056314-GGGCGCAGAGTGCCATGGGC-G c.1314_1332del p.Q439Sfs*174 Frameshift 2/20 - 1
1-27056316-GCGCAGAGTGCCATGGGCGGCCTCT-G c.1314_1337del p.Q439_S446del InFrameDeletion 2/20 - 1
1-27056318-CG-C c.1314del p.Q439Rfs*180 Frameshift 2/20 - 1
1-27056318-G-A c.1314G>A p.A438= Synonymous 2/20 - 2
1-27056319-C-T c.1315C>T p.Q439* Nonsense 2/20 - 1
1-27056320-A-G c.1316A>G p.Q439R Missense 2/20 - 1
1-27056320-CA-C c.1316del p.Q439Rfs*180 Frameshift 2/20 - 1
1-27056321-G-A c.1317G>A p.Q439= Synonymous 2/20 - 1
1-27056321-G-C c.1317G>C p.Q439H Missense 2/20 - 4
1-27056321-G-GT c.1317_1318insT p.S440* Nonsense 2/20 - 1
1-27056321-G-T c.1317G>T p.Q439H Missense 2/20 - 1
1-27056322-AG-CC c.1318_1319delinsCC p.S440P Missense 2/20 - 1
1-27056322-AG-CT c.1318_1319inv p.S440L Missense 2/20 - 1
1-27056323-G-A c.1319G>A p.S440N Missense 2/20 - 1
1-27056323-G-C c.1319G>C p.S440T Missense 2/20 - 1
1-27056324-T-TG c.1321dup p.A441Gfs*182 Frameshift 2/20 - 1
1-27056325-G-A c.1321G>A p.A441T Missense 2/20 - 3
1-27056326-C-G c.1322C>G p.A441G Missense 2/20 - 1
1-27056326-C-T c.1322C>T p.A441V Missense 2/20 - 2
1-27056325-GC-G c.1323del p.M442Wfs*177 Frameshift 2/20 - 2
1-27056327-C-G c.1323C>G p.A441= Synonymous 2/20 - 1
1-27056330-G-A c.1326G>A p.M442I Missense 2/20 - 1
1-27056330-G-T c.1326G>T p.M442I Missense 2/20 - 1
1-27056331-G-T c.1327G>T p.G443C Missense 2/20 - 1
1-27056329-T-TG c.1328dup p.G444Rfs*179 Frameshift 2/20 - 1
1-27056332-G-T c.1328G>T p.G443V Missense 2/20 - 1
1-27056333-C-A c.1329C>A p.G443= Synonymous 2/20 - 1
1-27056333-C-G c.1329C>G p.G443= Synonymous 2/20 - 1
1-27056333-C-T c.1329C>T p.G443= Synonymous 2/20 - 2
1-27056334-G-A c.1330G>A p.G444S Missense 2/20 - 9
1-27056333-C-CG c.1331dup p.L445Pfs*178 Frameshift 2/20 - 1
1-27056333-CG-C c.1331del p.G444Afs*175 Frameshift 2/20 - 1
1-27056335-G-A c.1331G>A p.G444D Missense 2/20 - 2
1-27056335-G-C c.1331G>C p.G444A Missense 2/20 - 1
1-27056335-G-T c.1331G>T p.G444V Missense 2/20 - 1
1-27056336-GCC-G c.1332_1333del p.S446Lfs*176 Frameshift 2/20 - 1
1-27056335-G-GC c.1333dup p.L445Pfs*178 Frameshift 2/20 - 1
1-27056338-T-C c.1334T>C p.L445P Missense 2/20 - 1
1-27056339-C-A c.1335C>A p.L445= Synonymous 2/20 - 1
1-27056339-C-G c.1335C>G p.L445= Synonymous 2/20 - 1
1-27056339-C-T c.1335C>T p.L445= Synonymous 2/20 - 3
1-27056340-TC-CT c.1336_1337delinsCT p.S446L Missense 2/20 - 4
1-27056336-CCT-C c.1337_1338del p.S446Lfs*176 Frameshift 2/20 - 3
1-27056341-C-T c.1337C>T p.S446F Missense 2/20 - 2
1-27056342-CTT-C c.1338_1339del p.Q449Afs*173 Frameshift 2/20 - 7
1-27056341-C-CT c.1339dup p.Y447Lfs*176 Frameshift 2/20 - 1
1-27056341-CT-C c.1339del p.Y447Ifs*172 Frameshift 2/20 - 1
1-27056343-T-C c.1339T>C p.Y447H Missense 2/20 - 1
1-27056343-T-TA c.1340dup p.Y447* Nonsense 2/20 - 1
1-27056344-A-G c.1340A>G p.Y447C Missense 2/20 - 1
1-27056342-TTA-T c.1341_1342del p.Q449Afs*173 Frameshift 2/20 - 2
1-27056345-ATAC-A c.1341_1343del p.Y447_T448delins* MultiAAMissense 2/20 - 1
1-27056345-T-A c.1341T>A p.Y447* Nonsense 2/20 - 2
1-27056345-T-G c.1341T>G p.Y447* Nonsense 2/20 - 2
1-27056346-A-AAC c.1342_1343insAC p.T448Nfs*172 Frameshift 2/20 - 1
1-27056346-A-T c.1342A>T p.T448S Missense 2/20 - 1
1-27056347-AC-A c.1343del p.T448Nfs*171 Frameshift 2/20 - 1
1-27056347-ACACAGCAG-A c.1343_1350del p.T448Nfs*172 SpliceDonorDeletion 2/20 - 1
1-27056347-C-G c.1343C>G p.T448R Missense 2/20 - 1
1-27056349-C-G c.1345C>G p.Q449E Missense 2/20 - 1
1-27056349-C-T c.1345C>T p.Q449* Nonsense 2/20 - 8
1-27056349-C-CAACCCTGCCCGAAGCAGCTTAGCCGAGTATTTCAAGGATAGCAGAAATGTGAAGAAGCTTAAAGACCCTA c.1346_1347insACCCTGCCCGAAGCAGCTTAGCCGAGTATTTCAAGGATAGCAGAAATGTGAAGAAGCTTAAAGACCCTAA p.Q450Pfs*13 Frameshift 2/20 - 1
1-27056350-A-G c.1346A>G p.Q449R Missense 2/20 - 2
1-27056350-A-T c.1346A>T p.Q449L Missense 2/20 - 1
1-27056351-G-A c.1347G>A p.Q449= Synonymous 2/20 - 1
1-27056352-C-A c.1348C>A p.Q450K Missense 2/20 - 1
1-27056352-C-T c.1348C>T p.Q450* Nonsense 2/20 - 1
1-27056353-A-T c.1349A>T p.Q450L Missense 2/20 - 1
1-27056353-A-AGATTCCTCCTTATGGACAACAAGGCCCCAGCG c.1350_1350+1insATTCCTCCTTATGGACAACAAGGCCCCAGCGG p.Y462Ffs*168 SpliceDonorInsertion - - 1
1-27056354-G-A c.1350G>A p.Q450= Synonymous 2/20 - 4
1-27056355-G-A c.1350+1G>A - IntronicSNV - 2/19 1
1-27056356-T-C c.1350+2T>C - IntronicSNV - 2/19 1
1-27056366-T-G c.1350+12T>G - IntronicSNV - 2/19 1
1-27056407-T-G c.1350+53T>G - IntronicSNV - 2/19 1
1-27057621-A-C c.1351-22A>C - IntronicSNV - 2/19 3
1-27057621-A-T c.1351-22A>T - IntronicSNV - 2/19 3
1-27057642-GATTCCTCCTT-G c.1353_1362del p.I451Mfs*165 Frameshift 3/20 - 1
1-27057643-A-AT c.1353dup p.P452Sfs*171 Frameshift 3/20 - 1
1-27057646-C-A c.1354C>A p.P452T Missense 3/20 - 2
1-27057646-CC-TT c.1354_1355delinsTT p.P452F Missense 3/20 - 1
1-27057646-C-G c.1354C>G p.P452A Missense 3/20 - 2
1-27057646-C-T c.1354C>T p.P452S Missense 3/20 - 3
1-27057647-C-G c.1355C>G p.P452R Missense 3/20 - 3
1-27057647-C-T c.1355C>T p.P452L Missense 3/20 - 7
1-27057649-C-A c.1357C>A p.P453T Missense 3/20 - 1
1-27057649-C-T c.1357C>T p.P453S Missense 3/20 - 3
1-27057650-C-T c.1358C>T p.P453L Missense 3/20 - 1
1-27057653-A-G c.1361A>G p.Y454C Missense 3/20 - 1
1-27057654-T-A c.1362T>A p.Y454* Nonsense 3/20 - 3
1-27057654-T-C c.1362T>C p.Y454= Synonymous 3/20 - 1
1-27057654-T-G c.1362T>G p.Y454* Nonsense 3/20 - 3
1-27057655-GGA-AGC c.1363_1365delinsAGC p.G455S Missense 3/20 - 1
1-27057655-G-T c.1363G>T p.G455* Nonsense 3/20 - 1
1-27057654-T-TG c.1364dup p.Q456Tfs*167 Frameshift 3/20 - 1
1-27057656-G-A c.1364G>A p.G455E Missense 3/20 - 2
1-27057656-G-C c.1364G>C p.G455A Missense 3/20 - 1
1-27057657-A-C c.1365A>C p.G455= Synonymous 3/20 - 1
1-27057657-A-G c.1365A>G p.G455= Synonymous 3/20 - 1
1-27057657-A-T c.1365A>T p.G455= Synonymous 3/20 - 1
1-27057658-C-A c.1366C>A p.Q456K Missense 3/20 - 1
1-27057658-C-G c.1366C>G p.Q456E Missense 3/20 - 1
1-27057658-C-T c.1366C>T p.Q456* Nonsense 3/20 - 17
1-27057658-CA-C c.1368del p.Q456Hfs*163 Frameshift 3/20 - 1
1-27057660-A-G c.1368A>G p.Q456= Synonymous 3/20 - 1
1-27057656-GACA-G c.1369_1371del p.Q457del InFrameDeletion 3/20 - 1
1-27057661-AC-A c.1369del p.Q457Kfs*162 Frameshift 3/20 - 1
1-27057661-C-T c.1369C>T p.Q457* Nonsense 3/20 - 5
1-27057661-CA-C c.1371del p.G458Afs*161 Frameshift 3/20 - 1
1-27057663-AG-A c.1373del p.G458Afs*161 Frameshift 3/20 - 1
1-27057665-G-A c.1373G>A p.G458D Missense 3/20 - 1
1-27057667-C-G c.1375C>G p.P459A Missense 3/20 - 1
1-27057668-C-A c.1376C>A p.P459H Missense 3/20 - 1
1-27057668-CC-AA c.1376_1377delinsAA p.P459Q Missense 3/20 - 1
1-27057668-C-G c.1376C>G p.P459R Missense 3/20 - 2
1-27057668-C-T c.1376C>T p.P459L Missense 3/20 - 5
1-27057665-GC-G c.1377del p.S460Afs*159 Frameshift 3/20 - 1
1-27057670-AGC-TGA c.1378_1380delinsTGA p.S460* Nonsense 3/20 - 1
1-27057672-C-T c.1380C>T p.S460= Synonymous 3/20 - 3
1-27057673-G-A c.1381G>A p.G461R Missense 3/20 - 5
1-27057673-G-C c.1381G>C p.G461R Missense 3/20 - 2
1-27057673-G-T c.1381G>T p.G461W Missense 3/20 - 1
1-27057674-G-A c.1382G>A p.G461E Missense 3/20 - 1
1-27057674-GG-AC c.1382_1383delinsAC p.G461D Missense 3/20 - 1
1-27057674-GGGTATGGTCA-G c.1382_1391del p.G461Dfs*155 Frameshift 3/20 - 1
1-27057672-CG-C c.1383del p.Y462Mfs*157 Frameshift 3/20 - 1
1-27057677-A-G c.1385A>G p.Y462C Missense 3/20 - 2
1-27057677-A-T c.1385A>T p.Y462F Missense 3/20 - 1
1-27057678-T-A c.1386T>A p.Y462* Nonsense 3/20 - 1
1-27057678-T-G c.1386T>G p.Y462* Nonsense 3/20 - 1
1-27057679-G-A c.1387G>A p.G463S Missense 3/20 - 1
1-27057680-G-A c.1388G>A p.G463D Missense 3/20 - 2
1-27057680-G-T c.1388G>T p.G463V Missense 3/20 - 3
1-27057682-C-T c.1390C>T p.Q464* Nonsense 3/20 - 9
1-27057685-AC-A c.1393del p.Q465Rfs*154 Frameshift 3/20 - 1
1-27057685-C-T c.1393C>T p.Q465* Nonsense 3/20 - 6
1-27057685-C-CA c.1394dup p.Q467Pfs*156 Frameshift 3/20 - 1
1-27057686-CA-C c.1394del p.Q465Rfs*154 Frameshift 3/20 - 2
1-27057688-G-A c.1396G>A p.G466S Missense 3/20 - 1
1-27057688-G-C c.1396G>C p.G466R Missense 3/20 - 1
1-27057688-GGGC-G c.1396_1398del p.G466del InFrameDeletion 3/20 - 1
1-27057688-G-T c.1396G>T p.G466C Missense 3/20 - 1
1-27057689-G-A c.1397G>A p.G466D Missense 3/20 - 2
1-27057689-GC-AG c.1397_1398delinsAG p.G466E Missense 3/20 - 2
1-27057689-G-T c.1397G>T p.G466V Missense 3/20 - 3
1-27057691-C-T c.1399C>T p.Q467* Nonsense 3/20 - 2
1-27057692-A-G c.1400A>G p.Q467R Missense 3/20 - 2
1-27057692-A-T c.1400A>T p.Q467L Missense 3/20 - 1
1-27057692-CA-C c.1400del p.Q467Rfs*152 Frameshift 3/20 - 1
1-27057693-G-C c.1401G>C p.Q467H Missense 3/20 - 1
1-27057693-G-T c.1401G>T p.Q467H Missense 3/20 - 1
1-27057694-A-C c.1402A>C p.T468P Missense 3/20 - 2
1-27057694-A-G c.1402A>G p.T468A Missense 3/20 - 1
1-27057695-CT-TG c.1403_1404delinsTG p.T468M Missense 3/20 - 1
1-27057697-C-A c.1405C>A p.P469T Missense 3/20 - 1
1-27057697-C-G c.1405C>G p.P469A Missense 3/20 - 2
1-27057698-C-G c.1406C>G p.P469R Missense 3/20 - 1
1-27057698-C-T c.1406C>T p.P469L Missense 3/20 - 3
1-27057701-A-AT c.1411dup p.Y471Lfs*152 Frameshift 3/20 - 2
1-27057703-T-C c.1411T>C p.Y471H Missense 3/20 - 1
1-27057703-T-TA c.1412dup p.Y471* Nonsense 3/20 - 1
1-27057704-A-G c.1412A>G p.Y471C Missense 3/20 - 2
1-27057704-A-T c.1412A>T p.Y471F Missense 3/20 - 1
1-27057703-TAC-T c.1413_1414del p.Y471* Frameshift 3/20 - 1
1-27057705-C-A c.1413C>A p.Y471* Nonsense 3/20 - 3
1-27057705-C-G c.1413C>G p.Y471* Nonsense 3/20 - 2
1-27057706-A-C c.1414A>C p.N472H Missense 3/20 - 1
1-27057707-A-G c.1415A>G p.N472S Missense 3/20 - 1
1-27057708-C-T c.1416C>T p.N472= Synonymous 3/20 - 1
1-27057709-C-T c.1417C>T p.Q473* Nonsense 3/20 - 4
1-27057711-G-C c.1419G>C p.Q473H Missense 3/20 - 1
1-27057711-G-T c.1419G>T p.Q473H Missense 3/20 - 2
1-27057712-C-T c.1420C>T p.Q474* Nonsense 3/20 - 8
1-27057714-A-AGAAGCCTGCTGGCTGTTTGGAAGAACGC c.1422_1423insGAAGCCTGCTGGCTGTTTGGAAGAACGC p.S475Efs*157 Frameshift 3/20 - 1
1-27057715-AG-GC c.1423_1424delinsGC p.S475A Missense 3/20 - 1
1-27057716-AGTCCTCAC-A c.1424_1431del p.S475Tfs*145 Frameshift 3/20 - 1
1-27057716-G-A c.1424G>A p.S475N Missense 3/20 - 1
1-27057718-CCT-TAA c.1426_1428delinsTAA p.P476* Nonsense 3/20 - 1
1-27057719-C-G c.1427C>G p.P476R Missense 3/20 - 1
1-27057719-C-T c.1427C>T p.P476L Missense 3/20 - 1
1-27057718-CCT-C c.1428_1429del p.H477Pfs*145 Frameshift 3/20 - 1
1-27057720-CTCACCCTCAGCAGCAGCAGCCACCCTACTCCCAGCAACCA-C c.1428_1467del p.H477Rfs*129 Frameshift 3/20 - 1
1-27057720-T-TCG c.1429_1430insGC p.H477Rfs*143 Frameshift 3/20 - 1
1-27057721-C-A c.1429C>A p.H477N Missense 3/20 - 2
1-27057721-C-G c.1429C>G p.H477D Missense 3/20 - 1
1-27057722-A-G c.1430A>G p.H477R Missense 3/20 - 3
1-27057723-C-A c.1431C>A p.H477Q Missense 3/20 - 1
1-27057723-C-G c.1431C>G p.H477Q Missense 3/20 - 2
1-27057723-C-T c.1431C>T p.H477= Synonymous 3/20 - 1
1-27057722-ACCCT-A c.1432_1435del p.P478Sfs*140 Frameshift 3/20 - 1
1-27057724-C-T c.1432C>T p.P478S Missense 3/20 - 4
1-27057723-CCCT-C c.1433_1435del p.P478del InFrameDeletion 3/20 - 1
1-27057725-C-T c.1433C>T p.P478L Missense 3/20 - 3
1-27057727-CA-GC c.1435_1436delinsGC p.Q479A Missense 3/20 - 1
1-27057727-C-G c.1435C>G p.Q479E Missense 3/20 - 5
1-27057727-C-T c.1435C>T p.Q479* Nonsense 3/20 - 30
1-27057728-A-G c.1436A>G p.Q479R Missense 3/20 - 1
1-27057729-G-A c.1437G>A p.Q479= Synonymous 3/20 - 1
1-27057729-G-C c.1437G>C p.Q479H Missense 3/20 - 1
1-27057730-C-T c.1438C>T p.Q480* Nonsense 3/20 - 7
1-27057731-A-G c.1439A>G p.Q480R Missense 3/20 - 1
1-27057732-G-A c.1440G>A p.Q480= Synonymous 3/20 - 1
1-27057733-C-G c.1441C>G p.Q481E Missense 3/20 - 1
1-27057733-C-T c.1441C>T p.Q481* Nonsense 3/20 - 3
1-27057734-A-G c.1442A>G p.Q481R Missense 3/20 - 1
1-27057734-AG-T c.1442_1443delinsT p.Q481Lfs*138 Frameshift 3/20 - 1
1-27057734-A-T c.1442A>T p.Q481L Missense 3/20 - 1
1-27057736-C-G c.1444C>G p.Q482E Missense 3/20 - 1
1-27057736-C-T c.1444C>T p.Q482* Nonsense 3/20 - 9
1-27057726-TCAG-T c.1445_1447del p.Q482del InFrameDeletion 3/20 - 1
1-27057737-A-G c.1445A>G p.Q482R Missense 3/20 - 1
1-27057738-G-A c.1446G>A p.Q482= Synonymous 3/20 - 4
1-27057738-GC-G c.1448del p.P483Hfs*136 Frameshift 3/20 - 1
1-27057740-CA-T c.1448_1449delinsT p.P483Lfs*136 Frameshift 3/20 - 1
1-27057740-C-G c.1448C>G p.P483R Missense 3/20 - 1
1-27057742-C-A c.1450C>A p.P484T Missense 3/20 - 3
1-27057743-C-T c.1451C>T p.P484L Missense 3/20 - 3
1-27057744-C-T c.1452C>T p.P484= Synonymous 3/20 - 1
1-27057745-T-C c.1453T>C p.Y485H Missense 3/20 - 1
1-27057745-T-TAA c.1454_1455insAA p.Y485* Nonsense 3/20 - 1
1-27057746-A-G c.1454A>G p.Y485C Missense 3/20 - 2
1-27057747-ACTCCCAGC-A c.1455_1462del p.Y485* Frameshift 3/20 - 1
1-27057747-C-A c.1455C>A p.Y485* Nonsense 3/20 - 2
1-27057747-C-G c.1455C>G p.Y485* Nonsense 3/20 - 2
1-27057747-C-T c.1455C>T p.Y485= Synonymous 3/20 - 3
1-27057748-T-G c.1456T>G p.S486A Missense 3/20 - 1
1-27057749-C-A c.1457C>A p.S486Y Missense 3/20 - 1
1-27057749-C-G c.1457C>G p.S486C Missense 3/20 - 2
1-27057749-C-T c.1457C>T p.S486F Missense 3/20 - 2
1-27057748-TC-T c.1459del p.Q487Sfs*132 Frameshift 3/20 - 1
1-27057751-C-G c.1459C>G p.Q487E Missense 3/20 - 1
1-27057751-C-T c.1459C>T p.Q487* Nonsense 3/20 - 2
1-27057752-A-G c.1460A>G p.Q487R Missense 3/20 - 1
1-27057752-A-T c.1460A>T p.Q487L Missense 3/20 - 1
1-27057753-G-T c.1461G>T p.Q487H Missense 3/20 - 1
1-27057754-C-A c.1462C>A p.Q488K Missense 3/20 - 1
1-27057754-C-T c.1462C>T p.Q488* Nonsense 3/20 - 8
1-27057756-A-C c.1464A>C p.Q488H Missense 3/20 - 1
1-27057756-A-T c.1464A>T p.Q488H Missense 3/20 - 1
1-27057757-C-G c.1465C>G p.P489A Missense 3/20 - 1
1-27057757-C-T c.1465C>T p.P489S Missense 3/20 - 1
1-27057758-C-T c.1466C>T p.P489L Missense 3/20 - 1
1-27057760-ACCG-A c.1468_1470del p.P490del InFrameDeletion 3/20 - 1
1-27057760-C-A c.1468C>A p.P490T Missense 3/20 - 1
1-27057760-C-T c.1468C>T p.P490S Missense 3/20 - 3
1-27057761-C-T c.1469C>T p.P490L Missense 3/20 - 7
1-27057762-G-A c.1470G>A p.P490= Synonymous 3/20 - 3
1-27057762-G-C c.1470G>C p.P490= Synonymous 3/20 - 2
1-27057762-G-T c.1470G>T p.P490= Synonymous 3/20 - 1
1-27057764-C-G c.1472C>G p.S491C Missense 3/20 - 1
1-27057765-C-A c.1473C>A p.S491= Synonymous 3/20 - 1
1-27057766-C-T c.1474C>T p.Q492* Nonsense 3/20 - 4
1-27057767-CA-C c.1475del p.Q492Rfs*127 Frameshift 3/20 - 2
1-27057768-G-C c.1476G>C p.Q492H Missense 3/20 - 2
1-27057768-G-T c.1476G>T p.Q492H Missense 3/20 - 2
1-27057769-A-T c.1477A>T p.T493S Missense 3/20 - 1
1-27057770-C-G c.1478C>G p.T493S Missense 3/20 - 1
1-27057772-C-A c.1480C>A p.P494T Missense 3/20 - 5
1-27057772-C-T c.1480C>T p.P494S Missense 3/20 - 1
1-27057775-C-A c.1483C>A p.H495N Missense 3/20 - 2
1-27057775-C-G c.1483C>G p.H495D Missense 3/20 - 1
1-27057775-C-T c.1483C>T p.H495Y Missense 3/20 - 4
1-27057777-T-A c.1485T>A p.H495Q Missense 3/20 - 1
1-27057777-T-G c.1485T>G p.H495Q Missense 3/20 - 2
1-27057778-G-A c.1486G>A p.A496T Missense 3/20 - 2
1-27057778-G-C c.1486G>C p.A496P Missense 3/20 - 1
1-27057778-G-T c.1486G>T p.A496S Missense 3/20 - 1
1-27057779-C-T c.1487C>T p.A496V Missense 3/20 - 1
1-27057780-C-G c.1488C>G p.A496= Synonymous 3/20 - 1
1-27057778-GC-G c.1489del p.Q497Nfs*122 Frameshift 3/20 - 1
1-27057781-C-G c.1489C>G p.Q497E Missense 3/20 - 1
1-27057781-C-T c.1489C>T p.Q497* Nonsense 3/20 - 6
1-27057782-A-C c.1490A>C p.Q497P Missense 3/20 - 1
1-27057782-A-G c.1490A>G p.Q497R Missense 3/20 - 1
1-27057783-A-G c.1491A>G p.Q497= Synonymous 3/20 - 1
1-27057784-C-T c.1492C>T p.P498S Missense 3/20 - 2
1-27057785-C-T c.1493C>T p.P498L Missense 3/20 - 1
1-27057787-T-A c.1495T>A p.S499T Missense 3/20 - 1
1-27057787-T-C c.1495T>C p.S499P Missense 3/20 - 2
1-27057788-C-A c.1496C>A p.S499* Nonsense 3/20 - 3
1-27057788-C-T c.1496C>T p.S499L Missense 3/20 - 9
1-27057789-G-A c.1497G>A p.S499= Synonymous 3/20 - 4
1-27057789-G-C c.1497G>C p.S499= Synonymous 3/20 - 4
1-27057789-G-T c.1497G>T p.S499= Synonymous 3/20 - 3
1-27057789-G-GT c.1498dup p.Y500Lfs*123 Frameshift 3/20 - 4
1-27057790-T-A c.1498T>A p.Y500N Missense 3/20 - 1
1-27057790-T-G c.1498T>G p.Y500D Missense 3/20 - 1
1-27057790-T-TA c.1499dup p.Y500* Nonsense 3/20 - 1
1-27057791-A-G c.1499A>G p.Y500C Missense 3/20 - 1
1-27057791-A-T c.1499A>T p.Y500F Missense 3/20 - 1
1-27057793-C-G c.1501C>G p.Q501E Missense 3/20 - 3
1-27057793-C-T c.1501C>T p.Q501* Nonsense 3/20 - 12
1-27057794-A-G c.1502A>G p.Q501R Missense 3/20 - 2
1-27057795-G-C c.1503G>C p.Q501H Missense 3/20 - 1
1-27057795-G-T c.1503G>T p.Q501H Missense 3/20 - 1
1-27057796-C-T c.1504C>T p.Q502* Nonsense 3/20 - 13
1-27057798-G-C c.1506G>C p.Q502H Missense 3/20 - 1
1-27057798-G-T c.1506G>T p.Q502H Missense 3/20 - 1
1-27057799-C-T c.1507C>T p.Q503* Nonsense 3/20 - 2
1-27057800-A-AAAGGCCCCAGCGGGTATGGTCAACAGGGC c.1508_1509insAAGGCCCCAGCGGGTATGGTCAACAGGGC p.P504Rfs*125 Frameshift 3/20 - 1
1-27057800-A-T c.1508A>T p.Q503L Missense 3/20 - 1
1-27057801-G-A c.1509G>A p.Q503= Synonymous 3/20 - 1
1-27057802-C-G c.1510C>G p.P504A Missense 3/20 - 1
1-27057802-C-T c.1510C>T p.P504S Missense 3/20 - 5
1-27057801-GCCA-G c.1511_1513del p.P504del InFrameDeletion 3/20 - 1
1-27057803-C-A c.1511C>A p.P504Q Missense 3/20 - 1
1-27057803-C-G c.1511C>G p.P504R Missense 3/20 - 1
1-27057803-C-T c.1511C>T p.P504L Missense 3/20 - 4
1-27057804-A-G c.1512A>G p.P504= Synonymous 3/20 - 1
1-27057804-CA-C c.1512del p.Q505Sfs*114 Frameshift 3/20 - 1
1-27057802-CCA-C c.1513_1514del p.Q505Vfs*117 Frameshift 3/20 - 3
1-27057803-C-CACCTCACTCTGTTGCCT c.1513_1514insCTCACTCTGTTGCCTAC p.Q505Pfs*120 Frameshift 3/20 - 1
1-27057805-C-A c.1513C>A p.Q505K Missense 3/20 - 1
1-27057805-C-G c.1513C>G p.Q505E Missense 3/20 - 2
1-27057805-C-T c.1513C>T p.Q505* Nonsense 3/20 - 3
1-27057806-A-T c.1514A>T p.Q505L Missense 3/20 - 3
1-27057807-AGTCT-A c.1515_1518del p.Q505Hfs*113 Frameshift 3/20 - 3
1-27057807-G-GCCTCACTCTGTTGCCTA c.1515_1516insCCTCACTCTGTTGCCTA p.S506Pfs*119 Frameshift 3/20 - 1
1-27057808-T-A c.1516T>A p.S506T Missense 3/20 - 1
1-27057808-TC-CT c.1516_1517delinsCT p.S506L Missense 3/20 - 1
1-27057808-T-G c.1516T>G p.S506A Missense 3/20 - 1
1-27057809-C-T c.1517C>T p.S506F Missense 3/20 - 1
1-27057811-C-G c.1519C>G p.Q507E Missense 3/20 - 1
1-27057811-C-T c.1519C>T p.Q507* Nonsense 3/20 - 18
1-27057812-A-G c.1520A>G p.Q507R Missense 3/20 - 1
1-27057813-A-AGC c.1521_1522insGC p.P508Afs*112 Frameshift 3/20 - 1
1-27057813-A-C c.1521A>C p.Q507H Missense 3/20 - 2
1-27057813-A-G c.1521A>G p.Q507= Synonymous 3/20 - 1
1-27057813-A-T c.1521A>T p.Q507H Missense 3/20 - 2
1-27057814-C-G c.1522C>G p.P508A Missense 3/20 - 1
1-27057814-C-T c.1522C>T p.P508S Missense 3/20 - 3
1-27057815-C-A c.1523C>A p.P508Q Missense 3/20 - 2
1-27057817-C-G c.1525C>G p.P509A Missense 3/20 - 1
1-27057817-C-T c.1525C>T p.P509S Missense 3/20 - 2
1-27057818-C-T c.1526C>T p.P509L Missense 3/20 - 1
1-27057820-C-A c.1528C>A p.Q510K Missense 3/20 - 1
1-27057820-C-T c.1528C>T p.Q510* Nonsense 3/20 - 5
1-27057819-ACAGCTCCAGTCCT-A c.1529_1541del p.Q510Lfs*105 Frameshift 3/20 - 1
1-27057821-A-C c.1529A>C p.Q510P Missense 3/20 - 2
1-27057822-G-A c.1530G>A p.Q510= Synonymous 3/20 - 2
1-27057823-C-A c.1531C>A p.L511I Missense 3/20 - 1
1-27057823-C-T c.1531C>T p.L511F Missense 3/20 - 1
1-27057825-C-T c.1533C>T p.L511= Synonymous 3/20 - 1
1-27057826-C-A c.1534C>A p.Q512K Missense 3/20 - 1
1-27057826-C-T c.1534C>T p.Q512* Nonsense 3/20 - 10
1-27057828-G-C c.1536G>C p.Q512H Missense 3/20 - 1
1-27057828-G-T c.1536G>T p.Q512H Missense 3/20 - 1
1-27057829-T-A c.1537T>A p.S513T Missense 3/20 - 1
1-27057830-C-A c.1538C>A p.S513Y Missense 3/20 - 1
1-27057830-C-T c.1538C>T p.S513F Missense 3/20 - 3
1-27057829-TC-T c.1539del p.S514Lfs*105 Frameshift 3/20 - 1
1-27057834-T-A c.1542T>A p.S514= Synonymous 3/20 - 1
1-27057834-T-C c.1542T>C p.S514= Synonymous 3/20 - 1
1-27057834-T-G c.1542T>G p.S514= Synonymous 3/20 - 1
1-27057835-C-T c.1543C>T p.Q515* Nonsense 3/20 - 29
1-27057835-TCA-T c.1543_1544del p.Q515Afs*107 Frameshift 3/20 - 1
1-27057835-C-CA c.1544dup p.P516Afs*107 Frameshift 3/20 - 1
1-27057837-G-C c.1545G>C p.Q515H Missense 3/20 - 1
1-27057837-G-T c.1545G>T p.Q515H Missense 3/20 - 1
1-27057838-C-G c.1546C>G p.P516A Missense 3/20 - 2
1-27057838-C-T c.1546C>T p.P516S Missense 3/20 - 1
1-27057839-C-G c.1547C>G p.P516R Missense 3/20 - 1
1-27057839-C-T c.1547C>T p.P516L Missense 3/20 - 2
1-27057840-T-A c.1548T>A p.P516= Synonymous 3/20 - 1
1-27057840-T-C c.1548T>C p.P516= Synonymous 3/20 - 1
1-27057840-T-G c.1548T>G p.P516= Synonymous 3/20 - 1
1-27057841-C-G c.1549C>G p.P517A Missense 3/20 - 1
1-27057841-C-T c.1549C>T p.P517S Missense 3/20 - 2
1-27057840-TC-T c.1550del p.P517Hfs*102 Frameshift 3/20 - 1
1-27057843-A-AT c.1552dup p.Y518Lfs*105 Frameshift 3/20 - 1
1-27057845-A-G c.1553A>G p.Y518C Missense 3/20 - 1
1-27057845-A-T c.1553A>T p.Y518F Missense 3/20 - 2
1-27057846-ACTCCCAGCAGCC-A c.1554_1565del p.Y518_P522delins* MultiAAMissense 3/20 - 1
1-27057846-C-A c.1554C>A p.Y518* Nonsense 3/20 - 2
1-27057846-C-G c.1554C>G p.Y518* Nonsense 3/20 - 2
1-27057846-C-T c.1554C>T p.Y518= Synonymous 3/20 - 1
1-27057847-T-C c.1555T>C p.S519P Missense 3/20 - 2
1-27057848-CC-AA c.1556_1557delinsAA p.S519* Nonsense 3/20 - 1
1-27057849-C-A c.1557C>A p.S519= Synonymous 3/20 - 2
1-27057849-C-G c.1557C>G p.S519= Synonymous 3/20 - 2
1-27057849-C-T c.1557C>T p.S519= Synonymous 3/20 - 3
1-27057847-TCCCAGCAGCCATC-T c.1558_1570del p.Q520Sfs*95 Frameshift 3/20 - 1
1-27057847-TC-T c.1558del p.Q520Sfs*99 Frameshift 3/20 - 5
1-27057850-C-T c.1558C>T p.Q520* Nonsense 3/20 - 2
1-27057853-C-A c.1561C>A p.Q521K Missense 3/20 - 1
1-27057853-C-T c.1561C>T p.Q521* Nonsense 3/20 - 10
1-27057854-A-G c.1562A>G p.Q521R Missense 3/20 - 1
1-27057854-CAGCCA-C c.1562_1566del p.Q521Lfs*100 Frameshift 3/20 - 1
1-27057856-C-T c.1564C>T p.P522S Missense 3/20 - 1
1-27057856-GCCA-G c.1564_1566del p.P522del InFrameDeletion 3/20 - 1
1-27057859-T-A c.1567T>A p.S523T Missense 3/20 - 1
1-27057859-T-C c.1567T>C p.S523P Missense 3/20 - 1
1-27057859-T-G c.1567T>G p.S523A Missense 3/20 - 1
1-27057860-C-G c.1568C>G p.S523C Missense 3/20 - 2
1-27057860-C-T c.1568C>T p.S523F Missense 3/20 - 1
1-27057862-C-A c.1570C>A p.Q524K Missense 3/20 - 2
1-27057862-C-T c.1570C>T p.Q524* Nonsense 3/20 - 8
1-27057863-A-G c.1571A>G p.Q524R Missense 3/20 - 1
1-27057863-A-T c.1571A>T p.Q524L Missense 3/20 - 1
1-27057864-G-C c.1572G>C p.Q524H Missense 3/20 - 1
1-27057864-G-T c.1572G>T p.Q524H Missense 3/20 - 1
1-27057865-C-A c.1573C>A p.P525T Missense 3/20 - 1
1-27057865-C-G c.1573C>G p.P525A Missense 3/20 - 1
1-27057865-C-T c.1573C>T p.P525S Missense 3/20 - 1
1-27057868-C-G c.1576C>G p.P526A Missense 3/20 - 1
1-27057868-C-T c.1576C>T p.P526S Missense 3/20 - 1
1-27057869-C-T c.1577C>T p.P526L Missense 3/20 - 5
1-27057871-C-G c.1579C>G p.H527D Missense 3/20 - 1
1-27057871-C-T c.1579C>T p.H527Y Missense 3/20 - 1
1-27057872-CATCAGCAGTCCCCGGCTCCATACCCCTCCCAGCAGTCGACGACACAGCAGCACCCCCAG-C c.1581_1639del p.H527Qfs*76 InFrameDeletion 3/20 - 1
1-27057873-T-A c.1581T>A p.H527Q Missense 3/20 - 1
1-27057874-C-G c.1582C>G p.Q528E Missense 3/20 - 1
1-27057874-C-T c.1582C>T p.Q528* Nonsense 3/20 - 26
1-27057875-A-T c.1583A>T p.Q528L Missense 3/20 - 4
1-27057876-G-C c.1584G>C p.Q528H Missense 3/20 - 1
1-27057876-G-T c.1584G>T p.Q528H Missense 3/20 - 1
1-27057877-C-T c.1585C>T p.Q529* Nonsense 3/20 - 6
1-27057878-A-G c.1586A>G p.Q529R Missense 3/20 - 1
1-27057879-G-C c.1587G>C p.Q529H Missense 3/20 - 1
1-27057879-G-T c.1587G>T p.Q529H Missense 3/20 - 1
1-27057881-C-T c.1589C>T p.S530F Missense 3/20 - 2
1-27057883-C-A c.1591C>A p.P531T Missense 3/20 - 1
1-27057883-C-T c.1591C>T p.P531S Missense 3/20 - 1
1-27057884-C-T c.1592C>T p.P531L Missense 3/20 - 11
1-27057885-G-A c.1593G>A p.P531= Synonymous 3/20 - 3
1-27057885-G-C c.1593G>C p.P531= Synonymous 3/20 - 2
1-27057885-G-T c.1593G>T p.P531= Synonymous 3/20 - 2
1-27057886-G-A c.1594G>A p.A532T Missense 3/20 - 3
1-27057887-C-T c.1595C>T p.A532V Missense 3/20 - 3
1-27057888-T-C c.1596T>C p.A532= Synonymous 3/20 - 1
1-27057889-C-A c.1597C>A p.P533T Missense 3/20 - 1
1-27057889-C-G c.1597C>G p.P533A Missense 3/20 - 4
1-27057889-C-T c.1597C>T p.P533S Missense 3/20 - 7
1-27057890-C-T c.1598C>T p.P533L Missense 3/20 - 1
1-27057888-TCCATA-T c.1599_1603del p.Y534Lfs*87 Frameshift 3/20 - 1
1-27057892-T-A c.1600T>A p.Y534N Missense 3/20 - 1
1-27057894-C-A c.1602C>A p.Y534* Nonsense 3/20 - 4
1-27057894-C-G c.1602C>G p.Y534* Nonsense 3/20 - 5
1-27057895-C-A c.1603C>A p.P535T Missense 3/20 - 2
1-27057895-CC-TT c.1603_1604delinsTT p.P535F Missense 3/20 - 1
1-27057896-C-T c.1604C>T p.P535L Missense 3/20 - 2
1-27057893-AC-A c.1605del p.S536Pfs*83 Frameshift 3/20 - 1
1-27057898-CT-C c.1606del p.S536Pfs*83 Frameshift 3/20 - 1
1-27057898-T-C c.1606T>C p.S536P Missense 3/20 - 3
1-27057899-C-T c.1607C>T p.S536F Missense 3/20 - 2
1-27057901-C-T c.1609C>T p.Q537* Nonsense 3/20 - 13
1-27057902-A-G c.1610A>G p.Q537R Missense 3/20 - 1
1-27057903-G-A c.1611G>A p.Q537= Synonymous 3/20 - 1
1-27057904-C-A c.1612C>A p.Q538K Missense 3/20 - 1
1-27057904-C-T c.1612C>T p.Q538* Nonsense 3/20 - 11
1-27057907-T-A c.1615T>A p.S539T Missense 3/20 - 1
1-27057908-C-A c.1616C>A p.S539* Nonsense 3/20 - 3
1-27057908-C-G c.1616C>G p.S539W Missense 3/20 - 2
1-27057908-C-T c.1616C>T p.S539L Missense 3/20 - 4
1-27057909-G-A c.1617G>A p.S539= Synonymous 3/20 - 1
1-27057909-G-T c.1617G>T p.S539= Synonymous 3/20 - 1
1-27057910-A-C c.1618A>C p.T540P Missense 3/20 - 1
1-27057911-C-G c.1619C>G p.T540R Missense 3/20 - 1
1-27057911-C-T c.1619C>T p.T540M Missense 3/20 - 4
1-27057912-G-A c.1620G>A p.T540= Synonymous 3/20 - 3
1-27057912-G-C c.1620G>C p.T540= Synonymous 3/20 - 2
1-27057912-G-T c.1620G>T p.T540= Synonymous 3/20 - 2
1-27057914-C-T c.1622C>T p.T541I Missense 3/20 - 1
1-27057912-GAC-G c.1624_1625del p.Q542Afs*80 Frameshift 3/20 - 1
1-27057916-CA-GT c.1624_1625delinsGT p.Q542V Missense 3/20 - 1
1-27057916-C-G c.1624C>G p.Q542E Missense 3/20 - 1
1-27057916-C-T c.1624C>T p.Q542* Nonsense 3/20 - 9
1-27057918-AGCAG-A c.1626_1629del p.Q542Hfs*76 Frameshift 3/20 - 1
1-27057919-C-T c.1627C>T p.Q543* Nonsense 3/20 - 7
1-27057921-G-C c.1629G>C p.Q543H Missense 3/20 - 1
1-27057921-G-T c.1629G>T p.Q543H Missense 3/20 - 1
1-27057922-C-T c.1630C>T p.H544Y Missense 3/20 - 1
1-27057924-C-A c.1632C>A p.H544Q Missense 3/20 - 2
1-27057924-C-G c.1632C>G p.H544Q Missense 3/20 - 2
1-27057924-C-T c.1632C>T p.H544= Synonymous 3/20 - 5
1-27057925-C-T c.1633C>T p.P545S Missense 3/20 - 1
1-27057926-C-A c.1634C>A p.P545H Missense 3/20 - 2
1-27057926-C-T c.1634C>T p.P545L Missense 3/20 - 1
1-27057923-A-AC c.1636dup p.Q546Pfs*77 Frameshift 3/20 - 2
1-27057923-AC-A c.1636del p.Q546Rfs*73 Frameshift 3/20 - 3
1-27057928-C-A c.1636C>A p.Q546K Missense 3/20 - 7
1-27057928-C-G c.1636C>G p.Q546E Missense 3/20 - 2
1-27057928-C-T c.1636C>T p.Q546* Nonsense 3/20 - 6
1-27057929-A-C c.1637A>C p.Q546P Missense 3/20 - 1
1-27057929-A-G c.1637A>G p.Q546R Missense 3/20 - 3
1-27057929-CA-C c.1637del p.Q546Rfs*73 Frameshift 3/20 - 1
1-27057930-G-C c.1638G>C p.Q546H Missense 3/20 - 1
1-27057930-G-GC c.1638_1639insC p.S547Qfs*76 Frameshift 3/20 - 1
1-27057930-G-T c.1638G>T p.Q546H Missense 3/20 - 2
1-27057931-AG-CC c.1639_1640delinsCC p.S547P Missense 3/20 - 1
1-27057931-AG-CT c.1639_1640inv p.S547L Missense 3/20 - 1
1-27057932-G-A c.1640G>A p.S547N Missense 3/20 - 1
1-27057934-C-A c.1642C>A p.Q548K Missense 3/20 - 1
1-27057934-C-T c.1642C>T p.Q548* Nonsense 3/20 - 16
1-27057935-A-G c.1643A>G p.Q548R Missense 3/20 - 1
1-27057936-G-A c.1644G>A p.Q548= Synonymous 3/20 - 1
1-27057937-C-T c.1645C>T p.P549S Missense 3/20 - 2
1-27057938-C-A c.1646C>A p.P549H Missense 3/20 - 2
1-27057938-C-T c.1646C>T p.P549L Missense 3/20 - 1
1-27057940-C-T c.1648C>T p.P550S Missense 3/20 - 2
1-27057941-C-A c.1649C>A p.P550H Missense 3/20 - 1
1-27057941-C-G c.1649C>G p.P550R Missense 3/20 - 1
1-27057941-C-T c.1649C>T p.P550L Missense 3/20 - 1
1-27057936-GC-G c.1650del p.Y551Tfs*68 Frameshift 3/20 - 10
1-27057936-G-GC c.1650dup p.Y551Lfs*72 Frameshift 3/20 - 11
1-27057942-C-CT c.1651dup p.Y551Lfs*72 Frameshift 3/20 - 1
1-27057943-T-A c.1651T>A p.Y551N Missense 3/20 - 2
1-27057943-T-C c.1651T>C p.Y551H Missense 3/20 - 1
1-27057943-T-TA c.1652dup p.Y551* Nonsense 3/20 - 3
1-27057944-A-C c.1652A>C p.Y551S Missense 3/20 - 1
1-27057944-A-G c.1652A>G p.Y551C Missense 3/20 - 3
1-27057945-C-A c.1653C>A p.Y551* Nonsense 3/20 - 2
1-27057945-C-G c.1653C>G p.Y551* Nonsense 3/20 - 3
1-27057946-CT-C c.1654del p.S552Hfs*67 Frameshift 3/20 - 1
1-27057947-C-A c.1655C>A p.S552* Nonsense 3/20 - 7
1-27057947-C-G c.1655C>G p.S552* Nonsense 3/20 - 12
1-27057947-C-T c.1655C>T p.S552L Missense 3/20 - 7
1-27057947-C-CA c.1656dup p.Q553Tfs*70 Frameshift 3/20 - 5
1-27057949-C-A c.1657C>A p.Q553K Missense 3/20 - 3
1-27057949-C-G c.1657C>G p.Q553E Missense 3/20 - 3
1-27057949-C-T c.1657C>T p.Q553* Nonsense 3/20 - 8
1-27057950-A-G c.1658A>G p.Q553R Missense 3/20 - 1
1-27057951-G-A c.1659G>A p.Q553= Synonymous 3/20 - 1
1-27057952-C-A c.1660C>A p.P554T Missense 3/20 - 1
1-27057951-GC-G c.1661del p.P554Hfs*65 Frameshift 3/20 - 2
1-27057953-C-G c.1661C>G p.P554R Missense 3/20 - 1
1-27057953-C-T c.1661C>T p.P554L Missense 3/20 - 1
1-27057955-C-A c.1663C>A p.Q555K Missense 3/20 - 1
1-27057955-C-T c.1663C>T p.Q555* Nonsense 3/20 - 11
1-27057956-A-T c.1664A>T p.Q555L Missense 3/20 - 1
1-27057959-C-T c.1667C>T p.A556V Missense 3/20 - 1
1-27057960-T-A c.1668T>A p.A556= Synonymous 3/20 - 1
1-27057960-T-G c.1668T>G p.A556= Synonymous 3/20 - 1
1-27057961-C-T c.1669C>T p.Q557* Nonsense 3/20 - 21
1-27057961-C-CA c.1670dup p.S558Vfs*65 Frameshift 3/20 - 1
1-27057964-GT-G c.1672del p.S558Lfs*61 Frameshift 3/20 - 1
1-27057967-C-G c.1675C>G p.P559A Missense 3/20 - 1
1-27057967-C-T c.1675C>T p.P559S Missense 3/20 - 1
1-27057967-TCC-T c.1675_1676del p.P559Lfs*63 Frameshift 3/20 - 1
1-27057968-C-T c.1676C>T p.P559L Missense 3/20 - 1
1-27057969-T-C c.1677T>C p.P559= Synonymous 3/20 - 1
1-27057970-T-A c.1678T>A p.Y560N Missense 3/20 - 1
1-27057970-TTACCA-T c.1678_1682del p.Y560Afs*61 Frameshift 3/20 - 1
1-27057970-T-TA c.1679dup p.Y560* Nonsense 3/20 - 1
1-27057972-C-A c.1680C>A p.Y560* Nonsense 3/20 - 10
1-27057972-C-G c.1680C>G p.Y560* Nonsense 3/20 - 7
1-27057973-C-A c.1681C>A p.Q561K Missense 3/20 - 1
1-27057973-C-T c.1681C>T p.Q561* Nonsense 3/20 - 9
1-27057975-G-C c.1683G>C p.Q561H Missense 3/20 - 2
1-27057975-G-T c.1683G>T p.Q561H Missense 3/20 - 1
1-27057976-C-G c.1684C>G p.Q562E Missense 3/20 - 2
1-27057976-C-T c.1684C>T p.Q562* Nonsense 3/20 - 3
1-27057979-C-T c.1687C>T p.Q563* Nonsense 3/20 - 3
1-27057980-A-C c.1688A>C p.Q563P Missense 3/20 - 2
1-27057980-A-G c.1688A>G p.Q563R Missense 3/20 - 1
1-27057981-G-T c.1689G>T p.Q563H Missense 3/20 - 1
1-27057981-G-GC c.1690dup p.Q564Pfs*59 Frameshift 3/20 - 1
1-27057982-C-T c.1690C>T p.Q564* Nonsense 3/20 - 2
1-27057985-C-T c.1693C>T p.P565S Missense 3/20 - 3
1-27057986-C-A c.1694C>A p.P565H Missense 3/20 - 1
1-27057986-C-T c.1694C>T p.P565L Missense 3/20 - 1
1-27057988-C-A c.1696C>A p.Q566K Missense 3/20 - 1
1-27057988-C-T c.1696C>T p.Q566* Nonsense 3/20 - 22
1-27057989-A-G c.1697A>G p.Q566R Missense 3/20 - 1
1-27057990-G-A c.1698G>A p.Q566= Synonymous 3/20 - 1
1-27057990-GC-AT c.1698_1699delinsAT p.Q567* Missense 3/20 - 1
1-27057991-C-A c.1699C>A p.Q567K Missense 3/20 - 3
1-27057991-C-T c.1699C>T p.Q567* Nonsense 3/20 - 4
1-27057991-GC-G c.1699del p.Q567Sfs*52 Frameshift 3/20 - 2
1-27057992-A-AG c.1701dup p.P568Afs*55 Frameshift 3/20 - 1
1-27057994-C-G c.1702C>G p.P568A Missense 3/20 - 1
1-27057994-C-T c.1702C>T p.P568S Missense 3/20 - 3
1-27057993-G-GC c.1703dup p.A569Sfs*54 Frameshift 3/20 - 1
1-27057995-C-T c.1703C>T p.P568L Missense 3/20 - 2
1-27057996-A-G c.1704A>G p.P568= Synonymous 3/20 - 1
1-27057997-G-A c.1705G>A p.A569T Missense 3/20 - 3
1-27057997-G-T c.1705G>T p.A569S Missense 3/20 - 1
1-27057998-C-G c.1706C>G p.A569G Missense 3/20 - 1
1-27057998-C-T c.1706C>T p.A569V Missense 3/20 - 2
1-27058000-C-A c.1708C>A p.P570T Missense 3/20 - 4
1-27058000-C-T c.1708C>T p.P570S Missense 3/20 - 5
1-27057999-ACC-A c.1709_1710del p.P570Lfs*52 Frameshift 3/20 - 1
1-27058003-T-C c.1711T>C p.S571P Missense 3/20 - 1
1-27058004-C-T c.1712C>T p.S571L Missense 3/20 - 4
1-27058005-G-A c.1713G>A p.S571= Synonymous 3/20 - 1
1-27058005-G-C c.1713G>C p.S571= Synonymous 3/20 - 1
1-27058005-G-T c.1713G>T p.S571= Synonymous 3/20 - 1
1-27058006-A-T c.1714A>T p.T572S Missense 3/20 - 4
1-27058007-C-A c.1715C>A p.T572K Missense 3/20 - 2
1-27058007-C-T c.1715C>T p.T572M Missense 3/20 - 5
1-27058009-C-G c.1717C>G p.L573V Missense 3/20 - 4
1-27058010-T-C c.1718T>C p.L573P Missense 3/20 - 1
1-27058011-C-A c.1719C>A p.L573= Synonymous 3/20 - 2
1-27058011-C-G c.1719C>G p.L573= Synonymous 3/20 - 2
1-27058011-C-T c.1719C>T p.L573= Synonymous 3/20 - 3
1-27058013-C-G c.1721C>G p.S574C Missense 3/20 - 1
1-27058013-C-T c.1721C>T p.S574F Missense 3/20 - 1
1-27058015-C-T c.1723C>T p.Q575* Nonsense 3/20 - 6
1-27058018-C-G c.1726C>G p.Q576E Missense 3/20 - 2
1-27058018-C-T c.1726C>T p.Q576* Nonsense 3/20 - 1
1-27058018-GC-G c.1726del p.Q576Rfs*43 Frameshift 3/20 - 1
1-27058020-G-C c.1728G>C p.Q576H Missense 3/20 - 2
1-27058020-G-T c.1728G>T p.Q576H Missense 3/20 - 5
1-27058021-G-A c.1729G>A p.A577T Missense 3/20 - 3
1-27058021-G-T c.1729G>T p.A577S Missense 3/20 - 1
1-27058022-C-T c.1730C>T p.A577V Missense 3/20 - 5
1-27058023-CTG-C c.1731_1732del p.A578Vfs*44 Frameshift 3/20 - 1
1-27058024-G-A c.1732G>A p.A578T Missense 3/20 - 3
1-27058025-C-A c.1733C>A p.A578E Missense 3/20 - 2
1-27058025-C-G c.1733C>G p.A578G Missense 3/20 - 1
1-27058025-C-T c.1733C>T p.A578V Missense 3/20 - 3
1-27058026-G-A c.1734G>A p.A578= Synonymous 3/20 - 4
1-27058026-G-C c.1734G>C p.A578= Synonymous 3/20 - 4
1-27058026-G-T c.1734G>T p.A578= Synonymous 3/20 - 4
1-27058028-A-C c.1736A>C p.Y579S Missense 3/20 - 1
1-27058029-T-A c.1737T>A p.Y579* Nonsense 3/20 - 3
1-27058029-T-G c.1737T>G p.Y579* Nonsense 3/20 - 1
1-27058030-C-A c.1738C>A p.P580T Missense 3/20 - 1
1-27058030-C-T c.1738C>T p.P580S Missense 3/20 - 2
1-27058031-C-T c.1739C>T p.P580L Missense 3/20 - 3
1-27058033-C-G c.1741C>G p.Q581E Missense 3/20 - 1
1-27058033-C-T c.1741C>T p.Q581* Nonsense 3/20 - 21
1-27058033-TC-T c.1741del p.Q581Sfs*38 Frameshift 3/20 - 2
1-27058034-A-T c.1742A>T p.Q581L Missense 3/20 - 2
1-27058037-C-G c.1745C>G p.P582R Missense 3/20 - 1
1-27058037-C-T c.1745C>T p.P582L Missense 3/20 - 5
1-27058035-GC-G c.1747del p.Q583Sfs*36 Frameshift 3/20 - 2
1-27058035-G-GC c.1747dup p.Q583Pfs*40 Frameshift 3/20 - 1
1-27058039-C-A c.1747C>A p.Q583K Missense 3/20 - 2
1-27058039-CCA-C c.1747_1748del p.Q583Vfs*39 Frameshift 3/20 - 1
1-27058039-C-T c.1747C>T p.Q583* Nonsense 3/20 - 6
1-27058040-A-G c.1748A>G p.Q583R Missense 3/20 - 1
1-27058042-T-C c.1750T>C p.S584P Missense 3/20 - 5
1-27058043-C-A c.1751C>A p.S584Y Missense 3/20 - 1
1-27058043-C-T c.1751C>T p.S584F Missense 3/20 - 1
1-27058043-CT-AA c.1751_1752delinsAA p.S584* Nonsense 3/20 - 1
1-27058044-T-A c.1752T>A p.S584= Synonymous 3/20 - 2
1-27058044-T-C c.1752T>C p.S584= Synonymous 3/20 - 2
1-27058044-T-G c.1752T>G p.S584= Synonymous 3/20 - 2
1-27058045-C-G c.1753C>G p.Q585E Missense 3/20 - 1
1-27058045-C-T c.1753C>T p.Q585* Nonsense 3/20 - 17
1-27058046-A-G c.1754A>G p.Q585R Missense 3/20 - 1
1-27058044-TCAG-T c.1756_1758del p.Q586del InFrameDeletion 3/20 - 2
1-27058048-C-A c.1756C>A p.Q586K Missense 3/20 - 2
1-27058048-C-G c.1756C>G p.Q586E Missense 3/20 - 1
1-27058048-C-T c.1756C>T p.Q586* Nonsense 3/20 - 12
1-27058049-A-G c.1757A>G p.Q586R Missense 3/20 - 1
1-27058051-T-G c.1759T>G p.S587A Missense 3/20 - 3
1-27058051-T-TC c.1762dup p.Q588Pfs*35 Frameshift 3/20 - 1
1-27058054-C-T c.1762C>T p.Q588* Nonsense 3/20 - 7
1-27058055-A-G c.1763A>G p.Q588R Missense 3/20 - 1
1-27058056-G-A c.1764G>A p.Q588= Synonymous 3/20 - 2
1-27058056-G-C c.1764G>C p.Q588H Missense 3/20 - 1
1-27058056-G-T c.1764G>T p.Q588H Missense 3/20 - 2
1-27058057-C-T c.1765C>T p.Q589* Nonsense 3/20 - 10
1-27058059-A-C c.1767A>C p.Q589H Missense 3/20 - 2
1-27058059-A-G c.1767A>G p.Q589= Synonymous 3/20 - 1
1-27058060-A-T c.1768A>T p.T590S Missense 3/20 - 1
1-27058064-C-T c.1772C>T p.A591V Missense 3/20 - 1
1-27058063-GC-G c.1773del p.Y592Ifs*27 Frameshift 3/20 - 2
1-27058065-C-A c.1773C>A p.A591= Synonymous 3/20 - 1
1-27058065-C-G c.1773C>G p.A591= Synonymous 3/20 - 1
1-27058065-C-T c.1773C>T p.A591= Synonymous 3/20 - 1
1-27058067-A-G c.1775A>G p.Y592C Missense 3/20 - 2
1-27058068-T-A c.1776T>A p.Y592* Nonsense 3/20 - 3
1-27058068-T-G c.1776T>G p.Y592* Nonsense 3/20 - 5
1-27058067-AT-A c.1777del p.S593Pfs*26 Frameshift 3/20 - 1
1-27058069-T-C c.1777T>C p.S593P Missense 3/20 - 1
1-27058069-T-G c.1777T>G p.S593A Missense 3/20 - 1
1-27058070-C-T c.1778C>T p.S593F Missense 3/20 - 5
1-27058071-C-T c.1779C>T p.S593= Synonymous 3/20 - 1
1-27058072-C-T c.1780C>T p.Q594* Nonsense 3/20 - 7
1-27058073-A-G c.1781A>G p.Q594R Missense 3/20 - 1
1-27058075-C-T c.1783C>T p.Q595* Nonsense 3/20 - 2
1-27058076-A-G c.1784A>G p.Q595R Missense 3/20 - 1
1-27058076-CA-C c.1784del p.Q595Rfs*24 Frameshift 3/20 - 1
1-27058078-CGC-TGG c.1786_1788delinsTGG p.R596W Missense 3/20 - 1
1-27058078-C-T c.1786C>T p.R596C Missense 3/20 - 3
1-27058079-G-A c.1787G>A p.R596H Missense 3/20 - 6
1-27058079-G-T c.1787G>T p.R596L Missense 3/20 - 2
1-27058080-C-A c.1788C>A p.R596= Synonymous 3/20 - 1
1-27058080-C-G c.1788C>G p.R596= Synonymous 3/20 - 1
1-27058080-C-T c.1788C>T p.R596= Synonymous 3/20 - 1
1-27058081-CTT-C c.1789_1790del p.F597Pfs*25 Frameshift 3/20 - 1
1-27058081-T-C c.1789T>C p.F597L Missense 3/20 - 1
1-27058083-C-A c.1791C>A p.F597L Missense 3/20 - 1
1-27058083-C-G c.1791C>G p.F597L Missense 3/20 - 1
1-27058080-CT-C c.1790del p.F597Sfs*22 Frameshift 3/20 - 1
1-27058082-T-G c.1790T>G p.F597C Missense 3/20 - 1
1-27058083-C-T c.1791C>T p.F597= Synonymous 3/20 - 1
1-27058082-TC-T c.1793del p.P598Lfs*21 Frameshift 3/20 - 1
1-27058085-C-T c.1793C>T p.P598L Missense 3/20 - 1
1-27058087-C-T c.1795C>T p.P599S Missense 3/20 - 1
1-27058088-C-T c.1796C>T p.P599L Missense 3/20 - 3
1-27058089-A-ACG c.1798_1799insGC p.P600Rfs*20 Frameshift 3/20 - 1
1-27058090-C-A c.1798C>A p.P600T Missense 3/20 - 1
1-27058090-C-T c.1798C>T p.P600S Missense 3/20 - 1
1-27058091-C-T c.1799C>T p.P600L Missense 3/20 - 2
1-27058092-G-A c.1800G>A p.P600= Synonymous 3/20 - 7
1-27058092-G-C c.1800G>C p.P600= Synonymous 3/20 - 4
1-27058092-G-T c.1800G>T p.P600= Synonymous 3/20 - 4
1-27058093-C-A c.1801C>A p.Q601K Missense 3/20 - 1
1-27058093-C-T c.1801C>T p.Q601* Nonsense 3/20 - 1
1-27058096-G-C c.1803+1G>C - IntronicSNV - 3/19 1
1-27058097-T-G c.1803+2T>G - IntronicSNV - 3/19 1
1-27058170-T-C c.1803+75T>C - IntronicSNV - 3/19 1
1-27059167-G-A c.1804G>A p.E602K Missense 4/20 - 6
1-27059167-G-T c.1804G>T p.E602* Nonsense 4/20 - 5
1-27059168-A-G c.1805A>G p.E602G Missense 4/20 - 3
1-27059169-G-T c.1806G>T p.E602D Missense 4/20 - 1
1-27059169-G-GC c.1807dup p.L603Pfs*20 Frameshift 4/20 - 3
1-27059176-C-G c.1813C>G p.Q605E Missense 4/20 - 5
1-27059176-C-T c.1813C>T p.Q605* Nonsense 4/20 - 16
1-27059177-A-C c.1814A>C p.Q605P Missense 4/20 - 1
1-27059176-C-CA c.1815dup p.D606Rfs*17 Frameshift 4/20 - 1
1-27059179-G-A c.1816G>A p.D606N Missense 4/20 - 1
1-27059180-A-C c.1817A>C p.D606A Missense 4/20 - 1
1-27059180-A-AT c.1819dup p.S607Ffs*16 Frameshift 4/20 - 1
1-27059183-C-A c.1820C>A p.S607* Nonsense 4/20 - 6
1-27059183-CA-TT c.1820_1821delinsTT p.S607F Missense 4/20 - 1
1-27059183-C-G c.1820C>G p.S607* Nonsense 4/20 - 7
1-27059183-C-T c.1820C>T p.S607L Missense 4/20 - 2
1-27059185-T-C c.1822T>C p.F608L Missense 4/20 - 1
1-27059187-T-A c.1824T>A p.F608L Missense 4/20 - 1
1-27059187-T-G c.1824T>G p.F608L Missense 4/20 - 1
1-27059186-T-C c.1823T>C p.F608S Missense 4/20 - 1
1-27059188-TGGGTCTC-T c.1825_1831del p.G609Rfs*8 Frameshift 4/20 - 1
1-27059189-G-A c.1826G>A p.G609E Missense 4/20 - 1
1-27059190-G-A c.1827G>A p.G609= Synonymous 4/20 - 1
1-27059191-T-G c.1828T>G p.S610A Missense 4/20 - 1
1-27059192-C-A c.1829C>A p.S610Y Missense 4/20 - 1
1-27059192-CT-AA c.1829_1830delinsAA p.S610* Nonsense 4/20 - 1
1-27059194-C-T c.1831C>T p.Q611* Nonsense 4/20 - 20
1-27059195-A-C c.1832A>C p.Q611P Missense 4/20 - 1
1-27059196-G-A c.1833G>A p.Q611= Synonymous 4/20 - 1
1-27059196-G-C c.1833G>C p.Q611H Missense 4/20 - 1
1-27059196-G-T c.1833G>T p.Q611H Missense 4/20 - 1
1-27059197-G-A c.1834G>A p.A612T Missense 4/20 - 3
1-27059197-G-C c.1834G>C p.A612P Missense 4/20 - 1
1-27059197-G-T c.1834G>T p.A612S Missense 4/20 - 2
1-27059201-C-A c.1838C>A p.S613Y Missense 4/20 - 1
1-27059201-C-T c.1838C>T p.S613F Missense 4/20 - 1
1-27059202-C-A c.1839C>A p.S613= Synonymous 4/20 - 1
1-27059202-C-G c.1839C>G p.S613= Synonymous 4/20 - 1
1-27059202-C-T c.1839C>T p.S613= Synonymous 4/20 - 2
1-27059203-T-G c.1840T>G p.S614A Missense 4/20 - 3
1-27059204-C-A c.1841C>A p.S614* Nonsense 4/20 - 8
1-27059204-C-G c.1841C>G p.S614* Nonsense 4/20 - 13
1-27059204-C-T c.1841C>T p.S614L Missense 4/20 - 11
1-27059206-G-A c.1843G>A p.A615T Missense 4/20 - 1
1-27059207-C-A c.1844C>A p.A615D Missense 4/20 - 2
1-27059207-C-T c.1844C>T p.A615V Missense 4/20 - 4
1-27059208-C-A c.1845C>A p.A615= Synonymous 4/20 - 1
1-27059208-C-G c.1845C>G p.A615= Synonymous 4/20 - 1
1-27059208-C-T c.1845C>T p.A615= Synonymous 4/20 - 1
1-27059209-C-A c.1846C>A p.P616T Missense 4/20 - 1
1-27059209-C-G c.1846C>G p.P616A Missense 4/20 - 1
1-27059209-C-T c.1846C>T p.P616S Missense 4/20 - 7
1-27059210-C-T c.1847C>T p.P616L Missense 4/20 - 1
1-27059206-GC-G c.1848del p.S617Qfs*2 Frameshift 4/20 - 4
1-27059206-G-GC c.1848dup p.S617Lfs*6 Frameshift 4/20 - 1
1-27059209-CCCT-C c.1848_1850del p.S617del InFrameDeletion 4/20 - 1
1-27059212-CT-C c.1849del p.S617Qfs*2 Frameshift 4/20 - 5
1-27059213-C-A c.1850C>A p.S617* Nonsense 4/20 - 8
1-27059213-CA-AT c.1850_1851delinsAT p.S617Y Missense 4/20 - 1
1-27059213-CA-GT c.1850_1851delinsGT p.S617C Missense 4/20 - 1
1-27059213-C-G c.1850C>G p.S617* Nonsense 4/20 - 13
1-27059213-C-T c.1850C>T p.S617L Missense 4/20 - 4
1-27059215-A-C c.1852A>C p.M618L Missense 4/20 - 3
1-27059215-A-G c.1852A>G p.M618V Missense 4/20 - 2
1-27059215-A-T c.1852A>T p.M618L Missense 4/20 - 1
1-27059217-G-A c.1854G>A p.M618I Missense 4/20 - 1
1-27059217-G-C c.1854G>C p.M618I Missense 4/20 - 1
1-27059217-G-T c.1854G>T p.M618I Missense 4/20 - 1
1-27059217-TG-T c.1854del p.M618Ifs*11 Frameshift 4/20 - 1
1-27059218-A-AG c.1855_1856insG p.T619Sfs*4 Frameshift 4/20 - 1
1-27059218-A-C c.1855A>C p.T619P Missense 4/20 - 1
1-27059219-C-T c.1856C>T p.T619I Missense 4/20 - 1
1-27059218-ACCT-A c.1858_1860del p.S621del InFrameDeletion 4/20 - 1
1-27059221-TC-AT c.1858_1859delinsAT p.S620I Missense 4/20 - 1
1-27059222-C-A c.1859C>A p.S620Y Missense 4/20 - 3
1-27059222-C-T c.1859C>T p.S620F Missense 4/20 - 1
1-27059224-CA-C c.1861del p.S621Vfs*8 Frameshift 4/20 - 1
1-27059224-A-AG c.1862dup p.S621Rfs*2 Frameshift 4/20 - 1
1-27059225-G-A c.1862G>A p.S621N Missense 4/20 - 1
1-27059225-G-GT c.1863dup p.K622* Nonsense 4/20 - 1
1-27059227-A-T c.1864A>T p.K622* Nonsense 4/20 - 1
1-27059229-G-C c.1866G>C p.K622N Missense 4/20 - 1
1-27059230-G-A c.1867G>A p.G623R Missense 4/20 - 2
1-27059230-G-C c.1867G>C p.G623R Missense 4/20 - 1
1-27059230-G-T c.1867G>T p.G623* Nonsense 4/20 - 6
1-27059231-GA-AC c.1868_1869delinsAC p.G623D Missense 4/20 - 1
1-27059232-A-C c.1869A>C p.G623= Synonymous 4/20 - 2
1-27059232-A-G c.1869A>G p.G623= Synonymous 4/20 - 2
1-27059232-A-T c.1869A>T p.G623= Synonymous 4/20 - 3
1-27059233-G-A c.1870G>A p.G624R Missense 4/20 - 1
1-27059233-G-C c.1870G>C p.G624R Missense 4/20 - 1
1-27059234-G-A c.1871G>A p.G624E Missense 4/20 - 3
1-27059236-C-T c.1873C>T p.Q625* Nonsense 4/20 - 3
1-27059236-GC-G c.1873del p.Q625Kfs*4 Frameshift 4/20 - 3
1-27059236-CAAGAAGAT-C c.1875_1882del p.Q625Hfs*14 Frameshift 4/20 - 3
1-27059236-CA-C c.1875del p.E626Kfs*3 Frameshift 4/20 - 1
1-27059238-A-AT c.1875_1876insT p.E626* Nonsense 4/20 - 1
1-27059239-AG-A c.1876del p.E626Kfs*3 Frameshift 4/20 - 1
1-27059239-G-T c.1876G>T p.E626* Nonsense 4/20 - 4
1-27059240-A-G c.1877A>G p.E626G Missense 4/20 - 1
1-27059242-G-T c.1879G>T p.D627Y Missense 4/20 - 2
1-27059243-A-G c.1880A>G p.D627G Missense 4/20 - 2
1-27059243-A-T c.1880A>T p.D627V Missense 4/20 - 2
1-27059244-AT-A c.1881del p.D627Efs*2 Frameshift 4/20 - 1
1-27059244-T-TA c.1882dup p.M628Nfs*14 Frameshift 4/20 - 1
1-27059244-T-TAGGG c.1882_1883insGGGA p.M628Rfs*15 Frameshift 4/20 - 1
1-27059245-A-AAAAAG c.1882_1883insAAAAG p.M628Kfs*3 Frameshift 4/20 - 1
1-27059246-T-C c.1883T>C p.M628T Missense 4/20 - 3
1-27059246-T-G c.1883T>G p.M628R Missense 4/20 - 2
1-27059247-G-GT c.1884_1885insT p.N629* Nonsense 4/20 - 1
1-27059248-A-G c.1885A>G p.N629D Missense 4/20 - 1
1-27059250-C-A c.1887C>A p.N629K Missense 4/20 - 4
1-27059250-C-G c.1887C>G p.N629K Missense 4/20 - 1
1-27059251-C-A c.1888C>A p.L630M Missense 4/20 - 2
1-27059252-T-A c.1889T>A p.L630Q Missense 4/20 - 1
1-27059252-T-C c.1889T>C p.L630P Missense 4/20 - 4
1-27059252-T-G c.1889T>G p.L630R Missense 4/20 - 1
1-27059253-G-C c.1890G>C p.L630= Synonymous 4/20 - 1
1-27059254-AG-TA c.1891_1892delinsTA p.S631Y Missense 4/20 - 1
1-27059254-A-T c.1891A>T p.S631C Missense 4/20 - 1
1-27059255-G-C c.1892G>C p.S631T Missense 4/20 - 2
1-27059253-GAGCCTTC-G c.1893_1899del p.L632Qfs*13 Frameshift 4/20 - 2
1-27059257-C-T c.1894C>T p.L632F Missense 4/20 - 1
1-27059258-T-A c.1895T>A p.L632H Missense 4/20 - 1
1-27059258-T-G c.1895T>G p.L632R Missense 4/20 - 1
1-27059260-C-A c.1897C>A p.Q633K Missense 4/20 - 1
1-27059260-C-T c.1897C>T p.Q633* Nonsense 4/20 - 20
1-27059262-AGT-A c.1899_1900del p.Q633Hfs*8 Frameshift 4/20 - 1
1-27059263-T-A c.1900T>A p.S634T Missense 4/20 - 1
1-27059263-T-C c.1900T>C p.S634P Missense 4/20 - 1
1-27059264-C-A c.1901C>A p.S634* Nonsense 4/20 - 10
1-27059264-C-G c.1901C>G p.S634* Nonsense 4/20 - 12
1-27059264-C-T c.1901C>T p.S634L Missense 4/20 - 2
1-27059266-A-G c.1903A>G p.R635G Missense 4/20 - 2
1-27059266-AGA-CAT c.1903_1905delinsCAT p.R635H Missense 4/20 - 1
1-27059266-A-T c.1903A>T p.R635* Nonsense 4/20 - 2
1-27059265-AAG-A c.1904_1905del p.R635Tfs*6 Frameshift 4/20 - 1
1-27059267-G-A c.1904G>A p.R635K Missense 4/20 - 1
1-27059267-G-C c.1904G>C p.R635T Missense 4/20 - 1
1-27059267-G-T c.1904G>T p.R635I Missense 4/20 - 3
1-27059269-C-A c.1906C>A p.P636T Missense 4/20 - 1
1-27059269-C-T c.1906C>T p.P636S Missense 4/20 - 2
1-27059270-C-G c.1907C>G p.P636R Missense 4/20 - 1
1-27059270-C-T c.1907C>T p.P636L Missense 4/20 - 2
1-27059273-C-G c.1910C>G p.S637C Missense 4/20 - 5
1-27059273-C-T c.1910C>T p.S637F Missense 4/20 - 1
1-27059272-TC-T c.1911del p.S638Afs*9 Frameshift 4/20 - 1
1-27059275-A-T c.1912A>T p.S638C Missense 4/20 - 1
1-27059276-G-T c.1913G>T p.S638I Missense 4/20 - 2
1-27059280-G-A c.1917G>A p.L639= Synonymous 4/20 - 1
1-27059281-C-G c.1918C>G p.P640A Missense 4/20 - 1
1-27059280-GC-G c.1919del p.P640Lfs*7 Frameshift 4/20 - 1
1-27059282-C-T c.1919C>T p.P640L Missense 4/20 - 2
1-27059283-T-A c.1920T>A p.P640= Synonymous 4/20 - 1
1-27059283-T-C c.1920T>C p.P640= Synonymous 4/20 - 1
1-27059283-T-G c.1920T>G p.P640= Synonymous 4/20 - 1
1-27059284-G-A c.1920+1G>A - IntronicSNV - 4/19 1
1-27059284-G-C c.1920+1G>C - IntronicSNV - 4/19 1
1-27059284-G-T c.1920+1G>T - IntronicSNV - 4/19 1
1-27059283-TGTGA-T c.1920+3_1920+6del - IntronicDeletion - 4/19 3
1-27059334-A-G c.1920+51A>G - IntronicSNV - 4/19 1
1-27061942-C-A c.1920+2659C>A - IntronicSNV - 4/19 1
1-27066466-C-A c.1920+7183C>A - IntronicSNV - 4/19 1
1-27067417-G-A c.1920+8134G>A - IntronicSNV - 4/19 2
1-27068455-TACAGTCAACATCAGTTATTCTGAAAAGATAGGAATTGGAAGGTACAGAATACCCACTCC-T c.1920+9172_1920+9230del - Unclassified - 4/19 1
1-27073924-C-T c.1921-13423C>T - IntronicSNV - 4/19 2
1-27078366-G-A c.1921-8981G>A - IntronicSNV - 4/19 1
1-27079894-A-G c.1921-7453A>G - IntronicSNV - 4/19 3
1-27079931-T-C c.1921-7416T>C - IntronicSNV - 4/19 1
1-27085562-T-C c.1921-1785T>C - IntronicSNV - 4/19 1
1-27087347-G-A c.1921G>A p.D641N Missense 5/20 - 3
1-27087347-G-GT c.1921_1922insT p.D641Vfs*8 SpliceAcceptorInsertion 5/20 - 1
1-27087348-A-G c.1922A>G p.D641G Missense 5/20 - 1
1-27087350-C-G c.1924C>G p.L642V Missense 5/20 - 1
1-27087353-TC-CT c.1927_1928delinsCT p.S643L Missense 5/20 - 2
1-27087354-C-G c.1928C>G p.S643C Missense 5/20 - 1
1-27087356-G-A c.1930G>A p.G644S Missense 5/20 - 2
1-27087356-G-C c.1930G>C p.G644R Missense 5/20 - 1
1-27087355-TG-T c.1931del p.G644Vfs*3 Frameshift 5/20 - 1
1-27087357-G-A c.1931G>A p.G644D Missense 5/20 - 1
1-27087360-C-A c.1934C>A p.S645* Nonsense 5/20 - 3
1-27087360-C-G c.1934C>G p.S645* Nonsense 5/20 - 6
1-27087360-C-T c.1934C>T p.S645L Missense 5/20 - 2
1-27087362-A-C c.1936A>C p.I646L Missense 5/20 - 2
1-27087362-A-G c.1936A>G p.I646V Missense 5/20 - 2
1-27087363-TA-AC c.1937_1938delinsAC p.I646N Missense 5/20 - 1
1-27087364-A-G c.1938A>G p.I646M Missense 5/20 - 1
1-27087365-G-A c.1939G>A p.D647N Missense 5/20 - 3
1-27087366-A-G c.1940A>G p.D647G Missense 5/20 - 1
1-27087364-AGATGACCTCCCCATGGGGACAGAAGGAGCTCT-A c.1941_1972del p.D647Efs*18 Frameshift 5/20 - 1
1-27087368-G-A c.1942G>A p.D648N Missense 5/20 - 2
1-27087368-G-T c.1942G>T p.D648Y Missense 5/20 - 2
1-27087370-C-T c.1944C>T p.D648= Synonymous 5/20 - 1
1-27087370-C-CCA c.1945_1946insAC p.L649Hfs*10 Frameshift 5/20 - 1
1-27087371-C-A c.1945C>A p.L649I Missense 5/20 - 1
1-27087371-C-T c.1945C>T p.L649F Missense 5/20 - 4
1-27087371-C-CT c.1946dup p.M651Hfs*25 Frameshift 5/20 - 1
1-27087374-C-A c.1948C>A p.P650T Missense 5/20 - 1
1-27087374-C-T c.1948C>T p.P650S Missense 5/20 - 2
1-27087375-C-A c.1949C>A p.P650H Missense 5/20 - 3
1-27087375-C-T c.1949C>T p.P650L Missense 5/20 - 1
1-27087372-TC-T c.1950del p.M651Wfs*7 Frameshift 5/20 - 1
1-27087372-T-TC c.1950dup p.M651Hfs*25 Frameshift 5/20 - 1
1-27087377-A-C c.1951A>C p.M651L Missense 5/20 - 3
1-27087377-A-G c.1951A>G p.M651V Missense 5/20 - 1
1-27087377-A-T c.1951A>T p.M651L Missense 5/20 - 4
1-27087377-CA-C c.1951del p.M651Wfs*7 Frameshift 5/20 - 1
1-27087377-A-AT