ARID1A

ARID1A AT-rich interaction domain 1A

Annotation transcript: NM_006015.6

8816 unique variant annotations were identified in 2620 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
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 c.1952dup p.M651Ifs*25 Frameshift 5/20 - 3
1-27087378-T-C c.1952T>C p.M651T Missense 5/20 - 1
1-27087380-G-A c.1954G>A p.G652R Missense 5/20 - 1
1-27087380-G-C c.1954G>C p.G652R Missense 5/20 - 1
1-27087378-T-TG c.1956dup p.T653Dfs*23 Frameshift 5/20 - 3
1-27087384-C-G c.1958C>G p.T653R Missense 5/20 - 3
1-27087384-C-T c.1958C>T p.T653I Missense 5/20 - 2
1-27087385-A-AT c.1959_1960insT p.E654* Nonsense 5/20 - 1
1-27087386-G-A c.1960G>A p.E654K Missense 5/20 - 5
1-27087386-G-C c.1960G>C p.E654Q Missense 5/20 - 1
1-27087386-G-T c.1960G>T p.E654* Nonsense 5/20 - 1
1-27087389-GGA-AGC c.1963_1965delinsAGC p.G655S Missense 5/20 - 1
1-27087389-G-T c.1963G>T p.G655* Nonsense 5/20 - 2
1-27087390-G-A c.1964G>A p.G655E Missense 5/20 - 1
1-27087392-G-A c.1966G>A p.A656T Missense 5/20 - 3
1-27087391-AGCTCT-A c.1967_1971del p.A656Efs*18 Frameshift 5/20 - 1
1-27087393-C-T c.1967C>T p.A656V Missense 5/20 - 1
1-27087392-GCT-G c.1969_1970del p.L657Efs*18 Frameshift 5/20 - 1
1-27087395-C-G c.1969C>G p.L657V Missense 5/20 - 1
1-27087395-C-T c.1969C>T p.L657= Synonymous 5/20 - 1
1-27087395-C-CT c.1970dup p.S658Efs*18 Frameshift 5/20 - 1
1-27087396-CTG-C c.1970_1971del p.L657Qfs*18 Frameshift 5/20 - 1
1-27087396-T-TG c.1971dup p.S658Efs*18 Frameshift 5/20 - 1
1-27087397-G-GCTCTA c.1971_1972insCTCTA p.S658Lfs*2 Frameshift 5/20 - 1
1-27087399-G-T c.1973G>T p.S658I Missense 5/20 - 1
1-27087400-T-C c.1974T>C p.S658= Synonymous 5/20 - 1
1-27087402-C-T c.1976C>T p.P659L Missense 5/20 - 4
1-27087403-T-A c.1977T>A p.P659= Synonymous 5/20 - 1
1-27087403-T-C c.1977T>C p.P659= Synonymous 5/20 - 1
1-27087403-T-G c.1977T>G p.P659= Synonymous 5/20 - 1
1-27087404-G-A c.1978G>A p.G660R Missense 5/20 - 1
1-27087404-G-C c.1978G>C p.G660R Missense 5/20 - 1
1-27087405-GA-AC c.1979_1980delinsAC p.G660D Missense 5/20 - 1
1-27087405-G-T c.1979G>T p.G660V Missense 5/20 - 1
1-27087407-G-A c.1981G>A p.V661M Missense 5/20 - 1
1-27087407-G-C c.1981G>C p.V661L Missense 5/20 - 1
1-27087407-G-T c.1981G>T p.V661L Missense 5/20 - 2
1-27087409-G-A c.1983G>A p.V661= Synonymous 5/20 - 2
1-27087409-G-C c.1983G>C p.V661= Synonymous 5/20 - 2
1-27087409-G-GT c.1983_1984insT p.S662* Nonsense 5/20 - 1
1-27087409-G-T c.1983G>T p.V661= Synonymous 5/20 - 2
1-27087410-A-G c.1984A>G p.S662G Missense 5/20 - 1
1-27087410-AG-CT c.1984_1985inv p.S662L Missense 5/20 - 1
1-27087411-G-A c.1985G>A p.S662N Missense 5/20 - 1
1-27087411-G-C c.1985G>C p.S662T Missense 5/20 - 1
1-27087412-C-G c.1986C>G p.S662R Missense 5/20 - 1
1-27087413-A-T c.1987A>T p.T663S Missense 5/20 - 2
1-27087414-C-G c.1988C>G p.T663R Missense 5/20 - 1
1-27087416-TC-AG c.1990_1991delinsAG p.S664R Missense 5/20 - 1
1-27087417-C-A c.1991C>A p.S664* Nonsense 5/20 - 10
1-27087417-C-G c.1991C>G p.S664* Nonsense 5/20 - 16
1-27087419-G-A c.1993G>A p.G665R Missense 5/20 - 1
1-27087419-G-C c.1993G>C p.G665R Missense 5/20 - 1
1-27087418-AGG-A c.1994_1995del p.G665Dfs*10 Frameshift 5/20 - 2
1-27087420-G-C c.1994G>C p.G665A Missense 5/20 - 5
1-27087421-G-A c.1995G>A p.G665= Synonymous 5/20 - 1
1-27087421-G-C c.1995G>C p.G665= Synonymous 5/20 - 1
1-27087421-G-T c.1995G>T p.G665= Synonymous 5/20 - 1
1-27087425-TC-CT c.1999_2000delinsCT p.S667L Missense 5/20 - 1
1-27087426-C-A c.2000C>A p.S667Y Missense 5/20 - 1
1-27087426-C-T c.2000C>T p.S667F Missense 5/20 - 2
1-27087425-TC-T c.2001del p.S668Afs*74 Frameshift 5/20 - 1
1-27087427-C-A c.2001C>A p.S667= Synonymous 5/20 - 1
1-27087427-C-T c.2001C>T p.S667= Synonymous 5/20 - 1
1-27087428-A-AAT c.2002_2003insAT p.S668Nfs*75 Frameshift 5/20 - 1
1-27087428-A-G c.2002A>G p.S668G Missense 5/20 - 2
1-27087428-AG-TT c.2002_2003delinsTT p.S668F Missense 5/20 - 1
1-27087429-AG-A c.2003del p.S668Tfs*74 Frameshift 5/20 - 1
1-27087429-G-A c.2003G>A p.S668N Missense 5/20 - 1
1-27087430-C-A c.2004C>A p.S668R Missense 5/20 - 1
1-27087431-A-G c.2005A>G p.S669G Missense 5/20 - 1
1-27087432-G-A c.2006G>A p.S669N Missense 5/20 - 1
1-27087434-C-T c.2008C>T p.Q670* Nonsense 5/20 - 1
1-27087435-A-C c.2009A>C p.Q670P Missense 5/20 - 1
1-27087437-G-T c.2011G>T p.G671* Nonsense 5/20 - 3
1-27087438-G-A c.2012G>A p.G671E Missense 5/20 - 5
1-27087440-AGAG-A c.2014_2016del p.E672del InFrameDeletion 5/20 - 1
1-27087440-G-T c.2014G>T p.E672* Nonsense 5/20 - 5
1-27087441-A-G c.2015A>G p.E672G Missense 5/20 - 1
1-27087442-G-A c.2016G>A p.E672= Synonymous 5/20 - 5
1-27087443-C-T c.2017C>T p.Q673* Nonsense 5/20 - 7
1-27087445-G-C c.2019G>C p.Q673H Missense 5/20 - 1
1-27087445-G-GT c.2019_2020insT p.S674* Nonsense 5/20 - 1
1-27087445-G-T c.2019G>T p.Q673H Missense 5/20 - 1
1-27087447-AG-A c.2021del p.S674Ifs*68 Frameshift 5/20 - 1
1-27087447-G-T c.2021G>T p.S674I Missense 5/20 - 1
1-27087448-T-C c.2022T>C p.S674= Synonymous 5/20 - 2
1-27087451-T-A c.2025T>A p.N675K Missense 5/20 - 1
1-27087452-C-CG c.2026_2027insG p.P676Rfs*141 Frameshift 5/20 - 1
1-27087451-T-TC c.2027dup p.A677Sfs*140 Frameshift 5/20 - 1
1-27087453-C-G c.2027C>G p.P676R Missense 5/20 - 1
1-27087453-C-T c.2027C>T p.P676L Missense 5/20 - 5
1-27087455-G-C c.2029G>C p.A677P Missense 5/20 - 1
1-27087455-G-T c.2029G>T p.A677S Missense 5/20 - 1
1-27087456-C-A c.2030C>A p.A677D Missense 5/20 - 1
1-27087456-C-G c.2030C>G p.A677G Missense 5/20 - 5
1-27087456-C-T c.2030C>T p.A677V Missense 5/20 - 3
1-27087458-C-G c.2032C>G p.Q678E Missense 5/20 - 1
1-27087458-C-T c.2032C>T p.Q678* Nonsense 5/20 - 14
1-27087461-TC-AT c.2035_2036delinsAT p.S679I Missense 5/20 - 1
1-27087462-C-T c.2036C>T p.S679F Missense 5/20 - 2
1-27087464-C-A c.2038C>A p.P680T Missense 5/20 - 6
1-27087464-C-G c.2038C>G p.P680A Missense 5/20 - 1
1-27087464-C-T c.2038C>T p.P680S Missense 5/20 - 3
1-27087465-C-T c.2039C>T p.P680L Missense 5/20 - 1
1-27087466-T-A c.2040T>A p.P680= Synonymous 5/20 - 1
1-27087466-T-C c.2040T>C p.P680= Synonymous 5/20 - 3
1-27087466-T-G c.2040T>G p.P680= Synonymous 5/20 - 1
1-27087469-C-T c.2043C>T p.F681= Synonymous 5/20 - 2
1-27087467-TTCTC-T c.2044_2047del p.S682Lfs*59 Frameshift 5/20 - 1
1-27087472-T-A c.2046T>A p.S682= Synonymous 5/20 - 1
1-27087472-T-C c.2046T>C p.S682= Synonymous 5/20 - 1
1-27087472-T-G c.2046T>G p.S682= Synonymous 5/20 - 1
1-27087473-C-T c.2047C>T p.P683S Missense 5/20 - 2
1-27087474-C-T c.2048C>T p.P683L Missense 5/20 - 4
1-27087475-T-A c.2049T>A p.P683= Synonymous 5/20 - 1
1-27087475-T-C c.2049T>C p.P683= Synonymous 5/20 - 1
1-27087475-T-G c.2049T>G p.P683= Synonymous 5/20 - 1
1-27087476-C-G c.2050C>G p.H684D Missense 5/20 - 2
1-27087476-C-T c.2050C>T p.H684Y Missense 5/20 - 2
1-27087477-A-G c.2051A>G p.H684R Missense 5/20 - 2
1-27087478-T-C c.2052T>C p.H684= Synonymous 5/20 - 2
1-27087479-ACCT-A c.2056_2058del p.S686del InFrameDeletion 5/20 - 1
1-27087482-TC-CG c.2056_2057delinsCG p.S686R Missense 5/20 - 1
1-27087483-C-T c.2057C>T p.S686F Missense 5/20 - 1
1-27087485-C-T c.2059C>T p.P687S Missense 5/20 - 2
1-27087486-C-A c.2060C>A p.P687H Missense 5/20 - 6
1-27087486-C-T c.2060C>T p.P687L Missense 5/20 - 1
1-27087489-A-G c.2063A>G p.H688R Missense 5/20 - 3
1-27087490-C-A c.2064C>A p.H688Q Missense 5/20 - 2
1-27087490-C-G c.2064C>G p.H688Q Missense 5/20 - 2
1-27087490-C-T c.2064C>T p.H688= Synonymous 5/20 - 2
1-27087491-C-T c.2065C>T p.L689= Synonymous 5/20 - 2
1-27087493-G-A c.2067G>A p.L689= Synonymous 5/20 - 2
1-27087493-G-C c.2067G>C p.L689= Synonymous 5/20 - 2
1-27087493-G-T c.2067G>T p.L689= Synonymous 5/20 - 2
1-27087494-C-T c.2068C>T p.P690S Missense 5/20 - 2
1-27087495-C-A c.2069C>A p.P690H Missense 5/20 - 2
1-27087495-C-G c.2069C>G p.P690R Missense 5/20 - 1
1-27087495-C-T c.2069C>T p.P690L Missense 5/20 - 2
1-27087496-T-A c.2070T>A p.P690= Synonymous 5/20 - 1
1-27087496-T-C c.2070T>C p.P690= Synonymous 5/20 - 1
1-27087496-T-G c.2070T>G p.P690= Synonymous 5/20 - 1
1-27087497-G-A c.2071G>A p.G691S Missense 5/20 - 2
1-27087497-G-C c.2071G>C p.G691R Missense 5/20 - 1
1-27087499-C-A c.2073C>A p.G691= Synonymous 5/20 - 2
1-27087500-A-G c.2074A>G p.I692V Missense 5/20 - 6
1-27087501-T-A c.2075T>A p.I692N Missense 5/20 - 2
1-27087501-T-C c.2075T>C p.I692T Missense 5/20 - 1
1-27087503-C-A c.2077C>A p.R693= Synonymous 5/20 - 2
1-27087503-C-T c.2077C>T p.R693* Nonsense 5/20 - 50
1-27087504-G-A c.2078G>A p.R693Q Missense 5/20 - 3
1-27087504-GA-AT c.2078_2079delinsAT p.R693H Missense 5/20 - 1
1-27087504-G-C c.2078G>C p.R693P Missense 5/20 - 1
1-27087507-G-A c.2081G>A p.G694D Missense 5/20 - 1
1-27087509-C-T c.2083C>T p.P695S Missense 5/20 - 1
1-27087510-C-T c.2084C>T p.P695L Missense 5/20 - 2
1-27087511-T-G c.2085T>G p.P695= Synonymous 5/20 - 1
1-27087512-T-A c.2086T>A p.S696T Missense 5/20 - 1
1-27087512-TC-AA c.2086_2087delinsAA p.S696N Missense 5/20 - 1
1-27087513-CC-AA c.2087_2088delinsAA p.S696* Nonsense 5/20 - 2
1-27087513-C-T c.2087C>T p.S696F Missense 5/20 - 2
1-27087514-C-A c.2088C>A p.S696= Synonymous 5/20 - 1
1-27087514-C-G c.2088C>G p.S696= Synonymous 5/20 - 1
1-27087514-C-T c.2088C>T p.S696= Synonymous 5/20 - 1
1-27087515-C-T c.2089C>T p.P697S Missense 5/20 - 2
1-27087512-TC-T c.2090del p.P697Rfs*45 Frameshift 5/20 - 1
1-27087512-T-TC c.2090dup p.S698Vfs*119 Frameshift 5/20 - 1
1-27087516-C-T c.2090C>T p.P697L Missense 5/20 - 6
1-27087516-C-CG c.2091dup p.S698Vfs*119 Frameshift 5/20 - 2
1-27087517-G-A c.2091G>A p.P697= Synonymous 5/20 - 5
1-27087517-G-C c.2091G>C p.P697= Synonymous 5/20 - 3
1-27087517-G-T c.2091G>T p.P697= Synonymous 5/20 - 3
1-27087518-T-C c.2092T>C p.S698P Missense 5/20 - 1
1-27087518-TCC-GAG c.2092_2094delinsGAG p.S698E Missense 5/20 - 1
1-27087518-T-G c.2092T>G p.S698A Missense 5/20 - 2
1-27087519-C-G c.2093C>G p.S698C Missense 5/20 - 1
1-27087519-C-T c.2093C>T p.S698F Missense 5/20 - 5
1-27087520-C-A c.2094C>A p.S698= Synonymous 5/20 - 2
1-27087520-C-CT c.2094_2095insT p.P699Sfs*118 Frameshift 5/20 - 1
1-27087520-C-G c.2094C>G p.S698= Synonymous 5/20 - 2
1-27087520-C-T c.2094C>T p.S698= Synonymous 5/20 - 5
1-27087518-T-TC c.2096dup p.V700Cfs*117 Frameshift 5/20 - 1
1-27087522-CCT-C c.2096_2097del p.P699Rfs*117 Frameshift 5/20 - 1
1-27087522-CT-AA c.2096_2097delinsAA p.P699Q Missense 5/20 - 1
1-27087523-T-A c.2097T>A p.P699= Synonymous 5/20 - 1
1-27087523-T-C c.2097T>C p.P699= Synonymous 5/20 - 1
1-27087523-T-G c.2097T>G p.P699= Synonymous 5/20 - 1
1-27087525-T-C c.2099T>C p.V700A Missense 5/20 - 1
1-27087524-GT-G c.2100del p.G701Afs*41 Frameshift 5/20 - 1
1-27087527-G-T c.2101G>T p.G701C Missense 5/20 - 7
1-27087525-TTGGCTCTCCCGCCAG-T c.2102_2116del p.G701_S705del InFrameDeletion 5/20 - 1
1-27087528-G-A c.2102G>A p.G701D Missense 5/20 - 3
1-27087528-G-C c.2102G>C p.G701A Missense 5/20 - 3
1-27087529-C-A c.2103C>A p.G701= Synonymous 5/20 - 1
1-27087529-C-G c.2103C>G p.G701= Synonymous 5/20 - 1
1-27087529-C-T c.2103C>T p.G701= Synonymous 5/20 - 1
1-27087530-T-C c.2104T>C p.S702P Missense 5/20 - 1
1-27087531-C-G c.2105C>G p.S702C Missense 5/20 - 1
1-27087531-CT-AA c.2105_2106delinsAA p.S702* Nonsense 5/20 - 1
1-27087532-T-C c.2106T>C p.S702= Synonymous 5/20 - 1
1-27087533-C-T c.2107C>T p.P703S Missense 5/20 - 4
1-27087534-C-T c.2108C>T p.P703L Missense 5/20 - 2
1-27087532-TC-T c.2109del p.A704Pfs*38 Frameshift 5/20 - 1
1-27087535-C-T c.2109C>T p.P703= Synonymous 5/20 - 1
1-27087536-CG-C c.2110del p.A704Pfs*38 Frameshift 5/20 - 1
1-27087536-G-A c.2110G>A p.A704T Missense 5/20 - 3
1-27087536-G-C c.2110G>C p.A704P Missense 5/20 - 2
1-27087537-C-A c.2111C>A p.A704D Missense 5/20 - 1
1-27087537-C-T c.2111C>T p.A704V Missense 5/20 - 1
1-27087538-C-A c.2112C>A p.A704= Synonymous 5/20 - 1
1-27087538-C-G c.2112C>G p.A704= Synonymous 5/20 - 1
1-27087538-C-T c.2112C>T p.A704= Synonymous 5/20 - 1
1-27087539-A-G c.2113A>G p.S705G Missense 5/20 - 2
1-27087542-G-T c.2116G>T p.V706F Missense 5/20 - 1
1-27087543-T-C c.2117T>C p.V706A Missense 5/20 - 1
1-27087544-T-C c.2118T>C p.V706= Synonymous 5/20 - 2
1-27087545-TGCTCAGTC-T c.2119_2126del p.A707Sfs*107 Frameshift 5/20 - 1
1-27087547-T-G c.2121T>G p.A707= Synonymous 5/20 - 1
1-27087548-C-G c.2122C>G p.Q708E Missense 5/20 - 1
1-27087548-C-T c.2122C>T p.Q708* Nonsense 5/20 - 13
1-27087549-A-C c.2123A>C p.Q708P Missense 5/20 - 6
1-27087552-C-A c.2126C>A p.S709Y Missense 5/20 - 1
1-27087552-C-G c.2126C>G p.S709C Missense 5/20 - 1
1-27087552-C-T c.2126C>T p.S709F Missense 5/20 - 1
1-27087554-C-G c.2128C>G p.R710G Missense 5/20 - 1
1-27087554-CGC-TGA c.2128_2130delinsTGA p.R710* Nonsense 5/20 - 2
1-27087554-C-T c.2128C>T p.R710C Missense 5/20 - 14
1-27087555-G-A c.2129G>A p.R710H Missense 5/20 - 6
1-27087555-G-T c.2129G>T p.R710L Missense 5/20 - 2
1-27087558-C-A c.2132C>A p.S711* Nonsense 5/20 - 15
1-27087558-C-G c.2132C>G p.S711* Nonsense 5/20 - 21
1-27087559-A-T c.2133A>T p.S711= Synonymous 5/20 - 1
1-27087560-G-A c.2134G>A p.G712R Missense 5/20 - 1
1-27087560-G-C c.2134G>C p.G712R Missense 5/20 - 1
1-27087560-GGA-TGG c.2134_2136delinsTGG p.G712W Missense 5/20 - 1
1-27087561-G-C c.2135G>C p.G712A Missense 5/20 - 4
1-27087562-A-C c.2136A>C p.G712= Synonymous 5/20 - 1
1-27087562-A-G c.2136A>G p.G712= Synonymous 5/20 - 1
1-27087562-A-T c.2136A>T p.G712= Synonymous 5/20 - 1
1-27087563-C-A c.2137C>A p.P713T Missense 5/20 - 1
1-27087563-C-T c.2137C>T p.P713S Missense 5/20 - 2
1-27087564-C-T c.2138C>T p.P713L Missense 5/20 - 2
1-27087565-A-G c.2139A>G p.P713= Synonymous 5/20 - 1
1-27087566-C-A c.2140C>A p.L714I Missense 5/20 - 1
1-27087568-C-A c.2142C>A p.L714= Synonymous 5/20 - 1
1-27087568-C-G c.2142C>G p.L714= Synonymous 5/20 - 1
1-27087568-C-T c.2142C>T p.L714= Synonymous 5/20 - 1
1-27087568-C-CT c.2143dup p.S715Ffs*102 Frameshift 5/20 - 3
1-27087570-C-T c.2144C>T p.S715L Missense 5/20 - 13
1-27087571-G-A c.2145G>A p.S715= Synonymous 5/20 - 2
1-27087571-G-C c.2145G>C p.S715= Synonymous 5/20 - 1
1-27087571-G-T c.2145G>T p.S715= Synonymous 5/20 - 2
1-27087572-C-T c.2146C>T p.P716S Missense 5/20 - 1
1-27087573-C-A c.2147C>A p.P716H Missense 5/20 - 1
1-27087578-G-C c.2152G>C p.A718P Missense 5/20 - 2
1-27087579-C-T c.2153C>T p.A718V Missense 5/20 - 1
1-27087580-A-C c.2154A>C p.A718= Synonymous 5/20 - 1
1-27087580-A-G c.2154A>G p.A718= Synonymous 5/20 - 1
1-27087580-A-T c.2154A>T p.A718= Synonymous 5/20 - 1
1-27087581-G-A c.2155G>A p.V719M Missense 5/20 - 2
1-27087585-C-T c.2159C>T p.P720L Missense 5/20 - 1
1-27087585-C-CA c.2160dup p.G721Rfs*96 SpliceDonorInsertion 5/20 - 1
1-27087586-A-AC c.2160_2161insC p.G721Rfs*96 SpliceDonorInsertion 5/20 - 1
1-27087586-A-AT c.2160_2161insT p.G721Wfs*96 SpliceDonorInsertion 5/20 - 1
1-27087586-A-G c.2160A>G p.P720= Synonymous 5/20 - 1
1-27087587-G-C c.2161G>C p.G721R Missense 5/20 - 1
1-27087587-G-T c.2161G>T p.G721C Missense 5/20 - 1
1-27087588-G-A c.2161+1G>A - IntronicSNV - 5/19 1
1-27087611-G-A c.2161+24G>A - IntronicSNV - 5/19 1
1-27087670-G-A c.2161+83G>A - IntronicSNV - 5/19 1
1-27087875-G-A c.2162G>A p.G721D Missense 6/20 - 1
1-27087875-G-GC c.2163dup p.N722Qfs*95 SpliceAcceptorInsertion 6/20 - 1
1-27087876-C-CG c.2163_2164insG p.N722Efs*95 SpliceAcceptorInsertion 6/20 - 1
1-27087876-C-CT c.2163_2164insT p.N722* SpliceAcceptorInsertion 6/20 - 1
1-27087877-A-G c.2164A>G p.N722D Missense 6/20 - 1
1-27087876-C-CA c.2165dup p.N722Kfs*95 Frameshift 6/20 - 1
1-27087879-C-T c.2166C>T p.N722= Synonymous 6/20 - 3
1-27087880-C-A c.2167C>A p.Q723K Missense 6/20 - 1
1-27087880-C-T c.2167C>T p.Q723* Nonsense 6/20 - 18
1-27087882-G-C c.2169G>C p.Q723H Missense 6/20 - 1
1-27087886-C-T c.2173C>T p.P725S Missense 6/20 - 1
1-27087886-GCCACCTC-G c.2173_2179del p.P725Gfs*15 Frameshift 6/20 - 1
1-27087884-TGCCACCTCGGCCACCCAGTG-T c.2176_2195del p.P726Vfs*84 Frameshift 6/20 - 1
1-27087889-C-T c.2176C>T p.P726S Missense 6/20 - 1
1-27087890-CCTCGGCCACCCAG-C c.2177_2189del p.P726Lfs*12 Frameshift 6/20 - 1
1-27087892-CGG-TGT c.2179_2181delinsTGT p.R727C Missense 6/20 - 1
1-27087892-C-T c.2179C>T p.R727W Missense 6/20 - 2
1-27087892-TCGGCCACCCA-T c.2179_2188del p.R727Vfs*12 Frameshift 6/20 - 2
1-27087891-TCGGCCACCCAGTGG-T c.2180_2193del p.R727Pfs*85 Frameshift 6/20 - 1
1-27087893-CGGCCACCCAG-C c.2180_2189del p.R727Lfs*12 Frameshift 6/20 - 3
1-27087893-G-A c.2180G>A p.R727Q Missense 6/20 - 4
1-27087893-GG-AT c.2180_2181delinsAT p.R727H Missense 6/20 - 2
1-27087894-GGCCACC-G c.2181_2186del p.P728_P729del InFrameDeletion 6/20 - 1
1-27087894-GGCCAC-G c.2181_2185del p.P728Qfs*87 Frameshift 6/20 - 1
1-27087890-CTCGGCCACCCAGTGGCCAG-C c.2182_2200del p.P728Tfs*8 Frameshift 6/20 - 1
1-27087893-GGCCACCCAGT-G c.2182_2191del p.P728Afs*11 Frameshift 6/20 - 2
1-27087895-C-G c.2182C>G p.P728A Missense 6/20 - 2
1-27087895-C-T c.2182C>T p.P728S Missense 6/20 - 1
1-27087894-GCCACCCAGTGGCCAGTCGGACAGCAT-G c.2183_2208del p.P728Hfs*80 Frameshift 6/20 - 1
1-27087896-CCACCCAG-C c.2183_2189del p.P728Lfs*12 Frameshift 6/20 - 1
1-27087896-C-G c.2183C>G p.P728R Missense 6/20 - 1
1-27087896-C-T c.2183C>T p.P728L Missense 6/20 - 2
1-27087898-ACCCAGTGGCCAGTC-A c.2185_2198del p.P729Gfs*83 Frameshift 6/20 - 1
1-27087898-C-T c.2185C>T p.P729S Missense 6/20 - 1
1-27087899-CCCAG-C c.2186_2189del p.P729Lfs*12 Frameshift 6/20 - 1
1-27087899-C-T c.2186C>T p.P729L Missense 6/20 - 1
1-27087898-CCCAGTGGCCAGTCGGACAG-C c.2187_2205del p.G731Cfs*5 Frameshift 6/20 - 1
1-27087900-C-A c.2187C>A p.P729= Synonymous 6/20 - 2
1-27087900-C-G c.2187C>G p.P729= Synonymous 6/20 - 2
1-27087900-C-T c.2187C>T p.P729= Synonymous 6/20 - 2
1-27087902-G-A c.2189G>A p.S730N Missense 6/20 - 2
1-27087901-AGTGGCCAGTC-A c.2190_2199del p.S730Rfs*9 Frameshift 6/20 - 1
1-27087903-T-C c.2190T>C p.S730= Synonymous 6/20 - 2
1-27087898-CCCAGTGG-C c.2191_2197del p.G731Rfs*9 Frameshift 6/20 - 1
1-27087904-G-A c.2191G>A p.G731S Missense 6/20 - 2
1-27087904-G-C c.2191G>C p.G731R Missense 6/20 - 1
1-27087904-G-GTA c.2191_2192insTA p.G731Vfs*12 Frameshift 6/20 - 1
1-27087904-G-T c.2191G>T p.G731C Missense 6/20 - 1
1-27087905-G-A c.2192G>A p.G731D Missense 6/20 - 2
1-27087905-GC-G c.2194del p.Q732Sfs*10 Frameshift 6/20 - 1
1-27087907-C-T c.2194C>T p.Q732* Nonsense 6/20 - 4
1-27087908-A-G c.2195A>G p.Q732R Missense 6/20 - 1
1-27087908-AGTC-A c.2197_2199del p.S733del InFrameDeletion 6/20 - 1
1-27087910-T-A c.2197T>A p.S733T Missense 6/20 - 1
1-27087910-T-TC c.2198dup p.D734Gfs*83 Frameshift 6/20 - 1
1-27087911-C-A c.2198C>A p.S733* Nonsense 6/20 - 4
1-27087911-C-T c.2198C>T p.S733L Missense 6/20 - 6
1-27087911-TC-T c.2198del p.S733Wfs*9 Frameshift 6/20 - 1
1-27087912-G-A c.2199G>A p.S733= Synonymous 6/20 - 2
1-27087912-G-C c.2199G>C p.S733= Synonymous 6/20 - 2
1-27087912-G-GT c.2199_2200insT p.D734* Nonsense 6/20 - 1
1-27087912-G-T c.2199G>T p.S733= Synonymous 6/20 - 2
1-27087913-G-T c.2200G>T p.D734Y Missense 6/20 - 1
1-27087914-A-G c.2201A>G p.D734G Missense 6/20 - 2
1-27087915-AC-A c.2202del p.D734Efs*8 Frameshift 6/20 - 1
1-27087915-C-A c.2202C>A p.D734E Missense 6/20 - 1
1-27087915-C-G c.2202C>G p.D734E Missense 6/20 - 1
1-27087917-G-A c.2204G>A p.S735N Missense 6/20 - 6
1-27087916-A-C c.2203A>C p.S735R Missense 6/20 - 1
1-27087918-C-A c.2205C>A p.S735R Missense 6/20 - 1
1-27087918-C-G c.2205C>G p.S735R Missense 6/20 - 1
1-27087921-C-A c.2208C>A p.I736= Synonymous 6/20 - 4
1-27087921-C-T c.2208C>T p.I736= Synonymous 6/20 - 4
1-27087922-A-AAT c.2209_2210insAT p.M737Nfs*6 Frameshift 6/20 - 1
1-27087922-A-G c.2209A>G p.M737V Missense 6/20 - 3
1-27087924-G-A c.2211G>A p.M737I Missense 6/20 - 1
1-27087924-G-C c.2211G>C p.M737I Missense 6/20 - 1
1-27087924-G-T c.2211G>T p.M737I Missense 6/20 - 1
1-27087927-T-C c.2214T>C p.H738= Synonymous 6/20 - 1
1-27087928-C-T c.2215C>T p.P739S Missense 6/20 - 2
1-27087929-C-T c.2216C>T p.P739L Missense 6/20 - 1
1-27087926-ATCCT-A c.2217_2220del p.S740* Frameshift 6/20 - 1
1-27087931-TC-CT c.2218_2219delinsCT p.S740L Missense 6/20 - 1
1-27087931-T-G c.2218T>G p.S740A Missense 6/20 - 1
1-27087932-C-A c.2219C>A p.S740Y Missense 6/20 - 1
1-27087932-C-T c.2219C>T p.S740F Missense 6/20 - 2
1-27087932-TCCATGAACCAATCAAGCATTGCCC-T c.2219_2242del p.S740_Q748delins* MultiAAMissense 6/20 - 1
1-27087932-TCCATGAACC-T c.2219_2227del p.S740_Q743delins* MultiAAMissense 6/20 - 3
1-27087931-TCCATGAACCAATCAAG-T c.2220_2235del p.M741Lfs*87 Frameshift 6/20 - 1
1-27087931-TC-T c.2220del p.M741* Frameshift 6/20 - 1
1-27087934-A-G c.2221A>G p.M741V Missense 6/20 - 2
1-27087934-AT-TA c.2221_2222delinsTA p.M741* Nonsense 6/20 - 1
1-27087931-TCCATGAA-T c.2222_2228del p.M741Nfs*90 Frameshift 6/20 - 1
1-27087936-G-A c.2223G>A p.M741I Missense 6/20 - 4
1-27087936-G-C c.2223G>C p.M741I Missense 6/20 - 5
1-27087936-G-T c.2223G>T p.M741I Missense 6/20 - 4
1-27087936-GA-G c.2225del p.N742Tfs*91 Frameshift 6/20 - 1
1-27087938-AC-A c.2227del p.Q743Nfs*90 Frameshift 6/20 - 1
1-27087940-C-T c.2227C>T p.Q743* Nonsense 6/20 - 3
1-27087941-A-T c.2228A>T p.Q743L Missense 6/20 - 1
1-27087944-C-A c.2231C>A p.S744* Nonsense 6/20 - 5
1-27087944-C-G c.2231C>G p.S744* Nonsense 6/20 - 8
1-27087944-C-T c.2231C>T p.S744L Missense 6/20 - 1
1-27087946-AGC-TGA c.2233_2235delinsTGA p.S745* Nonsense 6/20 - 1
1-27087946-A-T c.2233A>T p.S745C Missense 6/20 - 1
1-27087947-G-A c.2234G>A p.S745N Missense 6/20 - 4
1-27087947-G-T c.2234G>T p.S745I Missense 6/20 - 1
1-27087948-C-G c.2235C>G p.S745R Missense 6/20 - 1
1-27087949-A-T c.2236A>T p.I746F Missense 6/20 - 1
1-27087950-T-A c.2237T>A p.I746N Missense 6/20 - 1
1-27087950-T-C c.2237T>C p.I746T Missense 6/20 - 1
1-27087952-G-A c.2239G>A p.A747T Missense 6/20 - 1
1-27087953-C-T c.2240C>T p.A747V Missense 6/20 - 3
1-27087955-C-T c.2242C>T p.Q748* Nonsense 6/20 - 7
1-27087956-A-G c.2243A>G p.Q748R Missense 6/20 - 1
1-27087958-G-A c.2245G>A p.D749N Missense 6/20 - 1
1-27087959-A-G c.2246A>G p.D749G Missense 6/20 - 1
1-27087959-A-T c.2246A>T p.D749V Missense 6/20 - 1
1-27087960-T-C c.2247T>C p.D749= Synonymous 6/20 - 1
1-27087961-C-G c.2248C>G p.R750G Missense 6/20 - 1
1-27087961-C-T c.2248C>T p.R750* Nonsense 6/20 - 25
1-27087961-TC-T c.2248del p.R750Efs*83 Frameshift 6/20 - 1
1-27087962-G-A c.2249G>A p.R750Q Missense 6/20 - 3
1-27087962-GA-AT c.2249_2250delinsAT p.R750H Missense 6/20 - 1
1-27087962-G-T c.2249G>T p.R750L Missense 6/20 - 1
1-27087965-G-T c.2251+1G>T - IntronicSNV - 6/19 1
1-27087971-G-A c.2251+7G>A - IntronicSNV - 6/19 1
1-27088025-C-A c.2251+61C>A - IntronicSNV - 6/19 1
1-27088546-A-T c.2252-97A>T - IntronicSNV - 6/19 3
1-27088597-C-T c.2252-46C>T - IntronicSNV - 6/19 1
1-27088640-T-C c.2252-3T>C - IntronicSNV - 6/19 1
1-27088643-G-T c.2252G>T p.G751V Missense 7/20 - 1
1-27088643-GT-G c.2254del p.Y752Ifs*81 Frameshift 7/20 - 1
1-27088646-A-T c.2255A>T p.Y752F Missense 7/20 - 5
1-27088647-T-A c.2256T>A p.Y752* Nonsense 7/20 - 1
1-27088647-T-G c.2256T>G p.Y752* Nonsense 7/20 - 1
1-27088648-A-G c.2257A>G p.M753V Missense 7/20 - 1
1-27088650-G-A c.2259G>A p.M753I Missense 7/20 - 1
1-27088651-C-T c.2260C>T p.Q754* Nonsense 7/20 - 10
1-27088653-G-C c.2262G>C p.Q754H Missense 7/20 - 2
1-27088653-G-GT c.2262_2263insT p.R755* Nonsense 7/20 - 1
1-27088653-G-T c.2262G>T p.Q754H Missense 7/20 - 1
1-27088654-AG-CA c.2263_2264delinsCA p.R755Q Missense 7/20 - 1
1-27088654-AG-CT c.2263_2264inv p.R755L Missense 7/20 - 2
1-27088654-A-T c.2263A>T p.R755W Missense 7/20 - 1
1-27088655-G-T c.2264G>T p.R755M Missense 7/20 - 3
1-27088656-G-GT c.2265_2266insT p.N756* Nonsense 7/20 - 2
1-27088657-A-C c.2266A>C p.N756H Missense 7/20 - 1
1-27088657-A-G c.2266A>G p.N756D Missense 7/20 - 2
1-27088656-GA-G c.2267del p.N756Tfs*77 Frameshift 7/20 - 1
1-27088658-A-C c.2267A>C p.N756T Missense 7/20 - 1
1-27088658-A-G c.2267A>G p.N756S Missense 7/20 - 3
1-27088659-C-A c.2268C>A p.N756K Missense 7/20 - 1
1-27088660-C-T c.2269C>T p.P757S Missense 7/20 - 3
1-27088661-C-T c.2270C>T p.P757L Missense 7/20 - 1
1-27088658-AC-A c.2272del p.Q758Rfs*75 Frameshift 7/20 - 4
1-27088663-C-A c.2272C>A p.Q758K Missense 7/20 - 1
1-27088663-C-T c.2272C>T p.Q758* Nonsense 7/20 - 5
1-27088664-A-C c.2273A>C p.Q758P Missense 7/20 - 1
1-27088664-CA-C c.2273del p.Q758Rfs*75 Frameshift 7/20 - 6
1-27088665-G-C c.2274G>C p.Q758H Missense 7/20 - 1
1-27088666-A-C c.2275A>C p.M759L Missense 7/20 - 1
1-27088666-A-G c.2275A>G p.M759V Missense 7/20 - 5
1-27088666-A-T c.2275A>T p.M759L Missense 7/20 - 1
1-27088667-T-A c.2276T>A p.M759K Missense 7/20 - 1
1-27088667-T-C c.2276T>C p.M759T Missense 7/20 - 2
1-27088667-T-G c.2276T>G p.M759R Missense 7/20 - 1
1-27088669-C-A c.2278C>A p.P760T Missense 7/20 - 1
1-27088668-GC-G c.2281del p.Q761Sfs*72 Frameshift 7/20 - 1
1-27088668-G-GC c.2281dup p.Q761Pfs*56 Frameshift 7/20 - 1
1-27088672-CA-AT c.2281_2282delinsAT p.Q761M Missense 7/20 - 1
1-27088672-C-T c.2281C>T p.Q761* Nonsense 7/20 - 4
1-27088673-A-C c.2282A>C p.Q761P Missense 7/20 - 2
1-27088673-A-T c.2282A>T p.Q761L Missense 7/20 - 1
1-27088674-G-A c.2283G>A p.Q761= Synonymous 7/20 - 1
1-27088674-G-C c.2283G>C p.Q761H Missense 7/20 - 2
1-27088675-TA-CC c.2284_2285delinsCC p.Y762P Missense 7/20 - 1
1-27088675-T-G c.2284T>G p.Y762D Missense 7/20 - 2
1-27088676-A-AC c.2286dup p.S763Qfs*54 Frameshift 7/20 - 1
1-27088677-C-A c.2286C>A p.Y762* Nonsense 7/20 - 2
1-27088678-AG-TT c.2287_2288delinsTT p.S763F Missense 7/20 - 1
1-27088678-AGT-TGA c.2287_2289delinsTGA p.S763* Nonsense 7/20 - 1
1-27088678-A-C c.2287A>C p.S763R Missense 7/20 - 1
1-27088680-T-A c.2289T>A p.S763R Missense 7/20 - 1
1-27088680-T-G c.2289T>G p.S763R Missense 7/20 - 3
1-27088681-T-A c.2290T>A p.S764T Missense 7/20 - 1
1-27088681-T-C c.2290T>C p.S764P Missense 7/20 - 1
1-27088682-C-A c.2291C>A p.S764Y Missense 7/20 - 1
1-27088682-C-T c.2291C>T p.S764F Missense 7/20 - 6
1-27088683-C-A c.2292C>A p.S764= Synonymous 7/20 - 2
1-27088683-C-G c.2292C>G p.S764= Synonymous 7/20 - 1
1-27088683-C-T c.2292C>T p.S764= Synonymous 7/20 - 4
1-27088684-C-T c.2293C>T p.P765S Missense 7/20 - 1
1-27088685-C-A c.2294C>A p.P765H Missense 7/20 - 2
1-27088686-C-T c.2295C>T p.P765= Synonymous 7/20 - 1
1-27088681-TC-T c.2296del p.Q766Sfs*67 Frameshift 7/20 - 9
1-27088681-T-TC c.2296dup p.Q766Pfs*51 Frameshift 7/20 - 13
1-27088687-C-A c.2296C>A p.Q766K Missense 7/20 - 1
1-27088687-C-G c.2296C>G p.Q766E Missense 7/20 - 1
1-27088687-C-T c.2296C>T p.Q766* Nonsense 7/20 - 6
1-27088688-A-C c.2297A>C p.Q766P Missense 7/20 - 2
1-27088688-A-G c.2297A>G p.Q766R Missense 7/20 - 1
1-27088688-CAG-C c.2297_2298del p.Q766Pfs*50 Frameshift 7/20 - 1
1-27088689-G-C c.2298G>C p.Q766H Missense 7/20 - 1
1-27088689-G-T c.2298G>T p.Q766H Missense 7/20 - 3
1-27088690-C-T c.2299C>T p.P767S Missense 7/20 - 2
1-27088691-C-A c.2300C>A p.P767H Missense 7/20 - 1
1-27088691-C-T c.2300C>T p.P767L Missense 7/20 - 1
1-27088692-C-A c.2301C>A p.P767= Synonymous 7/20 - 1
1-27088692-C-G c.2301C>G p.P767= Synonymous 7/20 - 1
1-27088692-C-T c.2301C>T p.P767= Synonymous 7/20 - 2
1-27088693-G-A c.2302G>A p.G768S Missense 7/20 - 3
1-27088694-G-A c.2303G>A p.G768D Missense 7/20 - 3
1-27088694-GC-AG c.2303_2304delinsAG p.G768E Missense 7/20 - 1
1-27088696-T-C c.2305T>C p.S769P Missense 7/20 - 1
1-27088697-C-A c.2306C>A p.S769* Nonsense 7/20 - 6
1-27088697-C-G c.2306C>G p.S769* Nonsense 7/20 - 3
1-27088697-C-T c.2306C>T p.S769L Missense 7/20 - 1
1-27088698-A-C c.2307A>C p.S769= Synonymous 7/20 - 1
1-27088698-A-G c.2307A>G p.S769= Synonymous 7/20 - 2
1-27088698-A-T c.2307A>T p.S769= Synonymous 7/20 - 1
1-27088699-G-A c.2308G>A p.A770T Missense 7/20 - 4
1-27088700-C-T c.2309C>T p.A770V Missense 7/20 - 2
1-27088699-GC-G c.2310del p.L771Yfs*62 Frameshift 7/20 - 1
1-27088701-C-A c.2310C>A p.A770= Synonymous 7/20 - 1
1-27088703-T-A c.2312T>A p.L771* Nonsense 7/20 - 2
1-27088703-T-G c.2312T>G p.L771* Nonsense 7/20 - 1
1-27088702-TTATC-T c.2313_2316del p.L771Ffs*61 Frameshift 7/20 - 1
1-27088703-T-TA c.2313dup p.S772Ifs*45 Frameshift 7/20 - 1
1-27088705-AT-A c.2314del p.S772Lfs*61 Frameshift 7/20 - 1
1-27088705-T-C c.2314T>C p.S772P Missense 7/20 - 1
1-27088706-C-A c.2315C>A p.S772Y Missense 7/20 - 3
1-27088706-C-G c.2315C>G p.S772C Missense 7/20 - 1
1-27088706-CT-AA c.2315_2316delinsAA p.S772* Nonsense 7/20 - 2
1-27088707-T-C c.2316T>C p.S772= Synonymous 7/20 - 1
1-27088708-C-T c.2317C>T p.P773S Missense 7/20 - 3
1-27088707-TC-T c.2318del p.P773Rfs*60 Frameshift 7/20 - 1
1-27088709-C-A c.2318C>A p.P773Q Missense 7/20 - 5
1-27088709-C-G c.2318C>G p.P773R Missense 7/20 - 1
1-27088709-C-T c.2318C>T p.P773L Missense 7/20 - 6
1-27088710-G-A c.2319G>A p.P773= Synonymous 7/20 - 1
1-27088711-C-A c.2320C>A p.R774S Missense 7/20 - 3
1-27088711-CGT-AAG c.2320_2322delinsAAG p.R774K Missense 7/20 - 1
1-27088711-C-T c.2320C>T p.R774C Missense 7/20 - 6
1-27088712-G-A c.2321G>A p.R774H Missense 7/20 - 4
1-27088712-G-C c.2321G>C p.R774P Missense 7/20 - 1
1-27088713-T-C c.2322T>C p.R774= Synonymous 7/20 - 1
1-27088713-T-G c.2322T>G p.R774= Synonymous 7/20 - 1
1-27088714-C-G c.2323C>G p.Q775E Missense 7/20 - 1
1-27088714-C-T c.2323C>T p.Q775* Nonsense 7/20 - 2
1-27088717-C-G c.2326C>G p.P776A Missense 7/20 - 1
1-27088717-C-T c.2326C>T p.P776S Missense 7/20 - 2
1-27088718-C-G c.2327C>G p.P776R Missense 7/20 - 5
1-27088718-C-T c.2327C>T p.P776L Missense 7/20 - 8
1-27088719-T-G c.2328T>G p.P776= Synonymous 7/20 - 1
1-27088718-CT-C c.2329del p.S777Pfs*56 Frameshift 7/20 - 1
1-27088721-C-T c.2330C>T p.S777F Missense 7/20 - 1
1-27088722-C-T c.2331C>T p.S777= Synonymous 7/20 - 2
1-27088723-G-A c.2332G>A p.G778R Missense 7/20 - 11
1-27088723-G-C c.2332G>C p.G778R Missense 7/20 - 3
1-27088723-G-T c.2332G>T p.G778* Nonsense 7/20 - 3
1-27088724-G-A c.2333G>A p.G778E Missense 7/20 - 3
1-27088726-G-T c.2335G>T p.G779* Nonsense 7/20 - 2
1-27088727-GAC-G c.2338_2339del p.Q780Dfs*36 Frameshift 7/20 - 1
1-27088729-C-T c.2338C>T p.Q780* Nonsense 7/20 - 5
1-27088732-GA-G c.2341del p.I781Yfs*52 Frameshift 7/20 - 1
1-27088733-T-A c.2342T>A p.I781K Missense 7/20 - 1
1-27088733-T-TA c.2343dup p.H782Tfs*35 Frameshift 7/20 - 1
1-27088734-A-G c.2343A>G p.I781M Missense 7/20 - 3
1-27088734-TA-T c.2343del p.H782Tfs*51 Frameshift 7/20 - 1
1-27088735-C-G c.2344C>G p.H782D Missense 7/20 - 1
1-27088735-C-T c.2344C>T p.H782Y Missense 7/20 - 2
1-27088734-ACACACAGG-A c.2346_2353del p.T783Gfs*31 Frameshift 7/20 - 1
1-27088737-C-G c.2346C>G p.H782Q Missense 7/20 - 1
1-27088737-C-T c.2346C>T p.H782= Synonymous 7/20 - 1
1-27088738-A-G c.2347A>G p.T783A Missense 7/20 - 1
1-27088738-A-T c.2347A>T p.T783S Missense 7/20 - 2
1-27088739-AC-A c.2348del p.T783Kfs*50 Frameshift 7/20 - 1
1-27088739-C-A c.2348C>A p.T783K Missense 7/20 - 1
1-27088739-C-T c.2348C>T p.T783I Missense 7/20 - 1
1-27088740-A-G c.2349A>G p.T783= Synonymous 7/20 - 1
1-27088740-AG-A c.2351del p.G784Afs*49 Frameshift 7/20 - 1
1-27088742-G-A c.2351G>A p.G784D Missense 7/20 - 2
1-27088742-G-C c.2351G>C p.G784A Missense 7/20 - 1
1-27088742-G-T c.2351G>T p.G784V Missense 7/20 - 3
1-27088743-GCA-G c.2352_2353del p.M785Gfs*31 Frameshift 7/20 - 1
1-27088744-A-C c.2353A>C p.M785L Missense 7/20 - 2
1-27088744-A-G c.2353A>G p.M785V Missense 7/20 - 2
1-27088744-A-T c.2353A>T p.M785L Missense 7/20 - 2
1-27088746-G-T c.2355G>T p.M785I Missense 7/20 - 1
1-27088747-G-A c.2356G>A p.G786S Missense 7/20 - 1
1-27088747-G-T c.2356G>T p.G786C Missense 7/20 - 1
1-27088745-T-TG c.2357dup p.S787Lfs*30 Frameshift 7/20 - 1
1-27088748-G-A c.2357G>A p.G786D Missense 7/20 - 5
1-27088748-GC-AG c.2357_2358delinsAG p.G786E Missense 7/20 - 1
1-27088748-GC-TT c.2357_2358delinsTT p.G786V Missense 7/20 - 1
1-27088748-G-T c.2357G>T p.G786V Missense 7/20 - 3
1-27088745-TGGGCTCCTACCAGCAGAACTCCATG-T c.2358_2382del p.S787Afs*38 Frameshift 7/20 - 1
1-27088749-C-A c.2358C>A p.G786= Synonymous 7/20 - 1
1-27088749-C-G c.2358C>G p.G786= Synonymous 7/20 - 1
1-27088749-C-T c.2358C>T p.G786= Synonymous 7/20 - 1
1-27088750-T-C c.2359T>C p.S787P Missense 7/20 - 1
1-27088751-C-T c.2360C>T p.S787F Missense 7/20 - 2
1-27088750-TC-T c.2361del p.Y788Tfs*45 Frameshift 7/20 - 2
1-27088752-C-A c.2361C>A p.S787= Synonymous 7/20 - 1
1-27088752-C-G c.2361C>G p.S787= Synonymous 7/20 - 1
1-27088752-C-T c.2361C>T p.S787= Synonymous 7/20 - 1
1-27088755-C-A c.2364C>A p.Y788* Nonsense 7/20 - 1
1-27088755-C-G c.2364C>G p.Y788* Nonsense 7/20 - 1
1-27088756-C-T c.2365C>T p.Q789* Nonsense 7/20 - 12
1-27088757-A-C c.2366A>C p.Q789P Missense 7/20 - 1
1-27088758-G-T c.2367G>T p.Q789H Missense 7/20 - 1
1-27088759-C-T c.2368C>T p.Q790* Nonsense 7/20 - 5
1-27088760-A-T c.2369A>T p.Q790L Missense 7/20 - 2
1-27088760-CA-C c.2369del p.Q790Rfs*43 Frameshift 7/20 - 1
1-27088761-G-A c.2370G>A p.Q790= Synonymous 7/20 - 1
1-27088762-A-C c.2371A>C p.N791H Missense 7/20 - 2
1-27088762-A-G c.2371A>G p.N791D Missense 7/20 - 1
1-27088764-C-A c.2373C>A p.N791K Missense 7/20 - 3
1-27088764-C-G c.2373C>G p.N791K Missense 7/20 - 3
1-27088765-TC-CT c.2374_2375delinsCT p.S792L Missense 7/20 - 1
1-27088766-C-G c.2375C>G p.S792C Missense 7/20 - 1
1-27088766-C-T c.2375C>T p.S792F Missense 7/20 - 6
1-27088765-T-TC c.2376dup p.M793Hfs*24 Frameshift 7/20 - 1
1-27088768-A-C c.2377A>C p.M793L Missense 7/20 - 5
1-27088768-A-G c.2377A>G p.M793V Missense 7/20 - 3
1-27088768-A-T c.2377A>T p.M793L Missense 7/20 - 4
1-27088771-G-A c.2380G>A p.G794R Missense 7/20 - 5
1-27088771-G-C c.2380G>C p.G794R Missense 7/20 - 4
1-27088772-G-A c.2381G>A p.G794E Missense 7/20 - 1
1-27088769-T-TG c.2382dup p.S795Efs*22 Frameshift 7/20 - 1
1-27088775-AG-A c.2384del p.S795Tfs*38 Frameshift 7/20 - 1
1-27088775-G-A c.2384G>A p.S795N Missense 7/20 - 1
1-27088776-C-A c.2385C>A p.S795R Missense 7/20 - 1
1-27088776-C-T c.2385C>T p.S795= Synonymous 7/20 - 1
1-27088777-T-C c.2386T>C p.Y796H Missense 7/20 - 1
1-27088778-A-G c.2387A>G p.Y796C Missense 7/20 - 5
1-27088778-TATGGTCCCCAGGGGGGTCA-T c.2387_2405del p.Y796Cfs*31 Frameshift 7/20 - 1
1-27088779-T-C c.2388T>C p.Y796= Synonymous 7/20 - 1
1-27088779-T-TA c.2388_2389insA p.G797Rfs*20 Frameshift 7/20 - 1
1-27088780-G-C c.2389G>C p.G797R Missense 7/20 - 3
1-27088781-G-A c.2390G>A p.G797D Missense 7/20 - 2
1-27088781-G-C c.2390G>C p.G797A Missense 7/20 - 1
1-27088782-T-C c.2391T>C p.G797= Synonymous 7/20 - 1
1-27088783-C-A c.2392C>A p.P798T Missense 7/20 - 1
1-27088784-C-A c.2393C>A p.P798H Missense 7/20 - 1
1-27088784-CC-TT c.2393_2394delinsTT p.P798L Missense 7/20 - 1
1-27088784-C-T c.2393C>T p.P798L Missense 7/20 - 8
1-27088785-C-A c.2394C>A p.P798= Synonymous 7/20 - 1
1-27088785-C-G c.2394C>G p.P798= Synonymous 7/20 - 1
1-27088785-C-T c.2394C>T p.P798= Synonymous 7/20 - 1
1-27088786-C-G c.2395C>G p.Q799E Missense 7/20 - 3
1-27088786-C-T c.2395C>T p.Q799* Nonsense 7/20 - 1
1-27088787-CA-C c.2396del p.Q799Rfs*34 Frameshift 7/20 - 1
1-27088788-G-C c.2397G>C p.Q799H Missense 7/20 - 1
1-27088788-G-T c.2397G>T p.Q799H Missense 7/20 - 2
1-27088789-G-C c.2398G>C p.G800R Missense 7/20 - 2
1-27088790-G-A c.2399G>A p.G800E Missense 7/20 - 1
1-27088790-G-C c.2399G>C p.G800A Missense 7/20 - 1
1-27088790-G-T c.2399G>T p.G800V Missense 7/20 - 1
1-27088791-G-A c.2400G>A p.G800= Synonymous 7/20 - 2
1-27088791-G-C c.2400G>C p.G800= Synonymous 7/20 - 3
1-27088791-G-T c.2400G>T p.G800= Synonymous 7/20 - 2
1-27088792-G-T c.2401G>T p.G801C Missense 7/20 - 2
1-27088787-A-AG c.2402dup p.Q802Sfs*15 Frameshift 7/20 - 8
1-27088787-AG-A c.2402del p.G801Vfs*32 Frameshift 7/20 - 14
1-27088793-G-A c.2402G>A p.G801D Missense 7/20 - 1
1-27088793-G-C c.2402G>C p.G801A Missense 7/20 - 1
1-27088793-G-T c.2402G>T p.G801V Missense 7/20 - 2
1-27088793-G-GT c.2403dup p.Q802Sfs*15 Frameshift 7/20 - 3
1-27088795-C-G c.2404C>G p.Q802E Missense 7/20 - 1
1-27088795-C-T c.2404C>T p.Q802* Nonsense 7/20 - 4
1-27088796-A-C c.2405A>C p.Q802P Missense 7/20 - 6
1-27088796-A-G c.2405A>G p.Q802R Missense 7/20 - 1
1-27088797-G-A c.2406G>A p.Q802= Synonymous 7/20 - 2
1-27088798-T-C c.2407T>C p.Y803H Missense 7/20 - 1
1-27088799-A-G c.2408A>G p.Y803C Missense 7/20 - 1
1-27088801-G-A c.2410G>A p.G804S Missense 7/20 - 1
1-27088803-C-A c.2412C>A p.G804= Synonymous 7/20 - 1
1-27088804-C-T c.2413C>T p.P805S Missense 7/20 - 1
1-27088802-G-GC c.2414dup p.Q806Tfs*11 Frameshift 7/20 - 1
1-27088805-C-T c.2414C>T p.P805L Missense 7/20 - 1
1-27088806-A-T c.2415A>T p.P805= Synonymous 7/20 - 3
1-27088808-A-T c.2417A>T p.Q806L Missense 7/20 - 1
1-27088809-A-C c.2418A>C p.Q806H Missense 7/20 - 1
1-27088809-A-T c.2418A>T p.Q806H Missense 7/20 - 1
1-27088835-T-A c.2419+25T>A - IntronicSNV - 7/19 1
1-27088842-G-A c.2419+32G>A - IntronicSNV - 7/19 1
1-27088842-G-T c.2419+32G>T - IntronicSNV - 7/19 1
1-27088901-G-C c.2419+91G>C - IntronicSNV - 7/19 1
1-27089446-G-C c.2420-18G>C - IntronicSNV - 7/19 4
1-27089464-G-A c.2420G>A p.G807D Missense 8/20 - 1
1-27089469-T-A c.2425T>A p.Y809N Missense 8/20 - 2
1-27089471-C-A c.2427C>A p.Y809* Nonsense 8/20 - 3
1-27089471-C-G c.2427C>G p.Y809* Nonsense 8/20 - 3
1-27089472-C-A c.2428C>A p.P810T Missense 8/20 - 1
1-27089472-C-T c.2428C>T p.P810S Missense 8/20 - 3
1-27089475-AG-CA c.2431_2432delinsCA p.R811Q Missense 8/20 - 1
1-27089477-G-C c.2433G>C p.R811S Missense 8/20 - 1
1-27089477-G-T c.2433G>T p.R811S Missense 8/20 - 1
1-27089478-C-T c.2434C>T p.Q812* Nonsense 8/20 - 3
1-27089480-G-C c.2436G>C p.Q812H Missense 8/20 - 1
1-27089480-G-T c.2436G>T p.Q812H Missense 8/20 - 1
1-27089476-GGCAGCCAAACTATAATGCCTTGCCCAATGCCAACTACCCCAGT-G c.2437_2479del p.P813Afs*6 Frameshift 8/20 - 1
1-27089484-A-C c.2440A>C p.N814H Missense 8/20 - 1
1-27089484-A-G c.2440A>G p.N814D Missense 8/20 - 1
1-27089485-A-C c.2441A>C p.N814T Missense 8/20 - 1
1-27089485-ACTATAATGCCTTG-A c.2443_2455del p.Y815Pfs*14 Frameshift 8/20 - 1
1-27089488-A-G c.2444A>G p.Y815C Missense 8/20 - 2
1-27089489-AT-A c.2445del p.Y815* Frameshift 8/20 - 1
1-27089489-T-A c.2445T>A p.Y815* Nonsense 8/20 - 2
1-27089489-T-C c.2445T>C p.Y815= Synonymous 8/20 - 1
1-27089489-T-G c.2445T>G p.Y815* Nonsense 8/20 - 1
1-27089490-AAT-TAA c.2446_2448delinsTAA p.N816* Nonsense 8/20 - 1
1-27089492-T-A c.2448T>A p.N816K Missense 8/20 - 2
1-27089492-T-G c.2448T>G p.N816K Missense 8/20 - 1
1-27089493-G-T c.2449G>T p.A817S Missense 8/20 - 1
1-27089494-C-T c.2450C>T p.A817V Missense 8/20 - 2
1-27089493-GC-G c.2451del p.L818Cfs*15 Frameshift 8/20 - 1
1-27089495-CT-C c.2453del p.L818Cfs*15 Frameshift 8/20 - 1
1-27089499-C-T c.2455C>T p.P819S Missense 8/20 - 1
1-27089500-C-T c.2456C>T p.P819L Missense 8/20 - 1
1-27089498-GC-G c.2457del p.N820Mfs*13 Frameshift 8/20 - 1
1-27089503-A-G c.2459A>G p.N820S Missense 8/20 - 3
1-27089503-AT-TG c.2459_2460delinsTG p.N820M Missense 8/20 - 2
1-27089506-C-T c.2462C>T p.A821V Missense 8/20 - 1
1-27089505-GC-G c.2463del p.N822Tfs*11 Frameshift 8/20 - 1
1-27089509-A-G c.2465A>G p.N822S Missense 8/20 - 3
1-27089510-C-A c.2466C>A p.N822K Missense 8/20 - 1
1-27089510-C-G c.2466C>G p.N822K Missense 8/20 - 1
1-27089510-C-CT c.2467dup p.Y823Lfs*49 Frameshift 8/20 - 1
1-27089511-T-TA c.2468dup p.Y823* Nonsense 8/20 - 1
1-27089512-A-G c.2468A>G p.Y823C Missense 8/20 - 1
1-27089513-C-G c.2469C>G p.Y823* Nonsense 8/20 - 1
1-27089514-C-T c.2470C>T p.P824S Missense 8/20 - 1
1-27089515-C-T c.2471C>T p.P824L Missense 8/20 - 1
1-27089512-AC-A c.2472del p.S825Vfs*8 Frameshift 8/20 - 1
1-27089517-A-G c.2473A>G p.S825G Missense 8/20 - 1
1-27089517-A-T c.2473A>T p.S825C Missense 8/20 - 1
1-27089517-CA-C c.2473del p.S825Vfs*8 Frameshift 8/20 - 1
1-27089518-G-A c.2474G>A p.S825N Missense 8/20 - 4
1-27089519-GT-G c.2475del p.S825Rfs*8 Frameshift 8/20 - 1
1-27089521-C-T c.2477C>T p.A826V Missense 8/20 - 3
1-27089521-GC-G c.2477del p.A826Efs*7 Frameshift 8/20 - 1
1-27089523-G-T c.2479G>T p.G827C Missense 8/20 - 1
1-27089524-G-A c.2480G>A p.G827D Missense 8/20 - 1
1-27089524-G-C c.2480G>C p.G827A Missense 8/20 - 1
1-27089525-C-T c.2481C>T p.G827= Synonymous 8/20 - 2
1-27089526-A-G c.2482A>G p.M828V Missense 8/20 - 1
1-27089528-G-A c.2484G>A p.M828I Missense 8/20 - 2
1-27089528-G-C c.2484G>C p.M828I Missense 8/20 - 2
1-27089528-G-T c.2484G>T p.M828I Missense 8/20 - 2
1-27089529-G-C c.2485G>C p.A829P Missense 8/20 - 1
1-27089530-C-T c.2486C>T p.A829V Missense 8/20 - 2
1-27089532-G-A c.2488G>A p.G830R Missense 8/20 - 1
1-27089532-GGA-AGC c.2488_2490delinsAGC p.G830S Missense 8/20 - 1
1-27089533-G-C c.2489G>C p.G830A Missense 8/20 - 5
1-27089533-G-T c.2489G>T p.G830V Missense 8/20 - 1
1-27089530-CTGGAGGCATAAACCCCA-C c.2490_2506del p.G831Cfs*35 Frameshift 8/20 - 1
1-27089533-G-GA c.2490dup p.G831Rfs*41 Frameshift 8/20 - 1
1-27089536-G-A c.2492G>A p.G831D Missense 8/20 - 1
1-27089536-G-C c.2492G>C p.G831A Missense 8/20 - 1
1-27089536-GC-AG c.2492_2493delinsAG p.G831E Missense 8/20 - 1
1-27089538-A-G c.2494A>G p.I832V Missense 8/20 - 1
1-27089540-A-AT c.2496_2497insT p.N833* Nonsense 8/20 - 1
1-27089541-A-C c.2497A>C p.N833H Missense 8/20 - 2
1-27089543-C-T c.2499C>T p.N833= Synonymous 8/20 - 1
1-27089544-C-CAA c.2500_2501insAA p.P834Qfs*26 Frameshift 8/20 - 1
1-27089544-C-T c.2500C>T p.P834S Missense 8/20 - 1
1-27089545-C-A c.2501C>A p.P834H Missense 8/20 - 1
1-27089542-AC-A c.2502del p.M835Wfs*24 Frameshift 8/20 - 1
1-27089547-A-G c.2503A>G p.M835V Missense 8/20 - 1
1-27089547-CA-C c.2503del p.M835Wfs*24 Frameshift 8/20 - 1
1-27089550-G-A c.2506G>A p.G836S Missense 8/20 - 2
1-27089550-G-C c.2506G>C p.G836R Missense 8/20 - 1
1-27089550-GGT-TGA c.2506_2508delinsTGA p.G836* Nonsense 8/20 - 1
1-27089550-G-T c.2506G>T p.G836C Missense 8/20 - 2
1-27089548-TG-T c.2507del p.G836Vfs*23 Frameshift 8/20 - 1
1-27089551-G-A c.2507G>A p.G836D Missense 8/20 - 1
1-27089551-G-C c.2507G>C p.G836A Missense 8/20 - 1
1-27089551-G-T c.2507G>T p.G836V Missense 8/20 - 1
1-27089551-GT-AG c.2507_2508delinsAG p.G836E Missense 8/20 - 2
1-27089553-G-A c.2509G>A p.A837T Missense 8/20 - 1
1-27089553-G-T c.2509G>T p.A837S Missense 8/20 - 2
1-27089554-C-A c.2510C>A p.A837D Missense 8/20 - 1
1-27089554-C-G c.2510C>G p.A837G Missense 8/20 - 1
1-27089554-C-T c.2510C>T p.A837V Missense 8/20 - 2
1-27089553-GCCGGAGGTCAAATGCATGGACAGCCTGGCATC-G c.2512_2543del p.G838Tfs*23 Frameshift 8/20 - 1
1-27089556-G-A c.2512G>A p.G838R Missense 8/20 - 2
1-27089556-G-C c.2512G>C p.G838R Missense 8/20 - 1
1-27089556-GGA-TGG c.2512_2514delinsTGG p.G838W Missense 8/20 - 1
1-27089556-GGA-TGT c.2512_2514delinsTGT p.G838C Missense 8/20 - 1
1-27089556-G-T c.2512G>T p.G838* Nonsense 8/20 - 5
1-27089557-G-A c.2513G>A p.G838E Missense 8/20 - 1
1-27089557-G-C c.2513G>C p.G838A Missense 8/20 - 2
1-27089559-GGT-TGA c.2515_2517delinsTGA p.G839* Nonsense 8/20 - 1
1-27089559-G-T c.2515G>T p.G839C Missense 8/20 - 1
1-27089560-G-A c.2516G>A p.G839D Missense 8/20 - 1
1-27089560-G-C c.2516G>C p.G839A Missense 8/20 - 1
1-27089560-G-T c.2516G>T p.G839V Missense 8/20 - 2
1-27089561-T-A c.2517T>A p.G839= Synonymous 8/20 - 1
1-27089561-T-C c.2517T>C p.G839= Synonymous 8/20 - 1
1-27089561-T-G c.2517T>G p.G839= Synonymous 8/20 - 1
1-27089562-C-T c.2518C>T p.Q840* Nonsense 8/20 - 14
1-27089564-A-T c.2520A>T p.Q840H Missense 8/20 - 1
1-27089562-C-CA c.2521dup p.M841Nfs*31 Frameshift 8/20 - 2
1-27089565-A-C c.2521A>C p.M841L Missense 8/20 - 1
1-27089567-G-A c.2523G>A p.M841I Missense 8/20 - 1
1-27089567-G-C c.2523G>C p.M841I Missense 8/20 - 1
1-27089567-G-T c.2523G>T p.M841I Missense 8/20 - 1
1-27089567-TG-T c.2523del p.M841Ifs*18 Frameshift 8/20 - 1
1-27089568-C-G c.2524C>G p.H842D Missense 8/20 - 1
1-27089568-C-T c.2524C>T p.H842Y Missense 8/20 - 1
1-27089569-A-G c.2525A>G p.H842R Missense 8/20 - 2
1-27089569-CA-C c.2525del p.H842Lfs*17 Frameshift 8/20 - 1
1-27089572-G-A c.2528G>A p.G843E Missense 8/20 - 2
1-27089574-C-A c.2530C>A p.Q844K Missense 8/20 - 2
1-27089574-C-T c.2530C>T p.Q844* Nonsense 8/20 - 6
1-27089575-A-G c.2531A>G p.Q844R Missense 8/20 - 2
1-27089576-G-C c.2532G>C p.Q844H Missense 8/20 - 1
1-27089576-G-T c.2532G>T p.Q844H Missense 8/20 - 1
1-27089576-G-GC c.2534dup p.G846Wfs*26 Frameshift 8/20 - 1
1-27089578-CT-AA c.2534_2535delinsAA p.P845Q Missense 8/20 - 1
1-27089580-G-T c.2536G>T p.G846C Missense 8/20 - 1
1-27089581-G-A c.2537G>A p.G846D Missense 8/20 - 2
1-27089584-T-C c.2540T>C p.I847T Missense 8/20 - 1
1-27089585-C-A c.2541C>A p.I847= Synonymous 8/20 - 3
1-27089585-C-T c.2541C>T p.I847= Synonymous 8/20 - 2
1-27089586-C-T c.2542C>T p.P848S Missense 8/20 - 13
1-27089587-C-T c.2543C>T p.P848L Missense 8/20 - 1
1-27089589-C-T c.2545C>T p.P849S Missense 8/20 - 5
1-27089590-C-T c.2546C>T p.P849L Missense 8/20 - 2
1-27089591-T-A c.2547T>A p.P849= Synonymous 8/20 - 1
1-27089592-T-C c.2548T>C p.Y850H Missense 8/20 - 1
1-27089591-TTA-T c.2549_2550del p.Y850Wfs*21 Frameshift 8/20 - 1
1-27089592-T-TA c.2549dup p.Y850* Nonsense 8/20 - 1
1-27089593-A-G c.2549A>G p.Y850C Missense 8/20 - 1
1-27089594-ATG-A c.2550_2551del p.Y850* Frameshift 8/20 - 1
1-27089594-T-A c.2550T>A p.Y850* Nonsense 8/20 - 3
1-27089594-T-G c.2550T>G p.Y850* Nonsense 8/20 - 3
1-27089595-G-T c.2551G>T p.G851C Missense 8/20 - 1
1-27089594-TG-T c.2552del p.G851Afs*8 Frameshift 8/20 - 1
1-27089596-G-A c.2552G>A p.G851D Missense 8/20 - 2
1-27089596-G-T c.2552G>T p.G851V Missense 8/20 - 1
1-27089597-C-A c.2553C>A p.G851= Synonymous 8/20 - 1
1-27089597-C-G c.2553C>G p.G851= Synonymous 8/20 - 1
1-27089597-C-T c.2553C>T p.G851= Synonymous 8/20 - 1
1-27089600-A-T c.2556A>T p.T852= Synonymous 8/20 - 2
1-27089601-C-G c.2557C>G p.L853V Missense 8/20 - 2
1-27089602-T-C c.2558T>C p.L853P Missense 8/20 - 1
1-27089603-C-G c.2559C>G p.L853= Synonymous 8/20 - 1
1-27089604-C-A c.2560C>A p.P854T Missense 8/20 - 1
1-27089604-C-G c.2560C>G p.P854A Missense 8/20 - 2
1-27089605-C-T c.2561C>T p.P854L Missense 8/20 - 4
1-27089606-T-A c.2562T>A p.P854= Synonymous 8/20 - 1
1-27089606-T-C c.2562T>C p.P854= Synonymous 8/20 - 1
1-27089606-T-G c.2562T>G p.P854= Synonymous 8/20 - 1
1-27089607-C-A c.2563C>A p.P855T Missense 8/20 - 1
1-27089607-C-T c.2563C>T p.P855S Missense 8/20 - 6
1-27089608-C-A c.2564C>A p.P855Q Missense 8/20 - 1
1-27089608-C-T c.2564C>T p.P855L Missense 8/20 - 2
1-27089603-CCCTCCAGGGAGGATGAGTCACG-C c.2566_2587del p.G856Wfs*28 Frameshift 8/20 - 1
1-27089610-G-C c.2566G>C p.G856R Missense 8/20 - 1
1-27089610-G-T c.2566G>T p.G856W Missense 8/20 - 1
1-27089611-G-A c.2567G>A p.G856E Missense 8/20 - 2
1-27089611-G-T c.2567G>T p.G856V Missense 8/20 - 5
1-27089612-G-A c.2568G>A p.G856= Synonymous 8/20 - 2
1-27089613-AG-TA c.2569_2570delinsTA p.R857* Nonsense 8/20 - 1
1-27089614-G-A c.2570G>A p.R857K Missense 8/20 - 3
1-27089616-A-T c.2572A>T p.M858L Missense 8/20 - 1
1-27089618-G-T c.2574G>T p.M858I Missense 8/20 - 1
1-27089619-A-T c.2575A>T p.S859C Missense 8/20 - 1
1-27089620-G-C c.2576G>C p.S859T Missense 8/20 - 1
1-27089620-GTCACGCCTCCATGGGCAACCGGCCTTATGGCCCTAACA-G c.2578_2615del p.H860Gfs*63 Frameshift 8/20 - 1
1-27089622-C-T c.2578C>T p.H860Y Missense 8/20 - 2
1-27089624-C-T c.2580C>T p.H860= Synonymous 8/20 - 6
1-27089625-G-A c.2581G>A p.A861T Missense 8/20 - 7
1-27089625-G-C c.2581G>C p.A861P Missense 8/20 - 3
1-27089625-G-T c.2581G>T p.A861S Missense 8/20 - 2
1-27089626-C-T c.2582C>T p.A861V Missense 8/20 - 2
1-27089630-C-A c.2586C>A p.S862= Synonymous 8/20 - 2
1-27089630-C-G c.2586C>G p.S862= Synonymous 8/20 - 2
1-27089630-C-T c.2586C>T p.S862= Synonymous 8/20 - 2
1-27089632-T-G c.2588T>G p.M863R Missense 8/20 - 1
1-27089634-G-A c.2590G>A p.G864S Missense 8/20 - 1
1-27089635-G-T c.2591G>T p.G864V Missense 8/20 - 5
1-27089636-C-A c.2592C>A p.G864= Synonymous 8/20 - 1
1-27089636-C-G c.2592C>G p.G864= Synonymous 8/20 - 1
1-27089636-C-T c.2592C>T p.G864= Synonymous 8/20 - 2
1-27089638-A-C c.2594A>C p.N865T Missense 8/20 - 1
1-27089638-A-G c.2594A>G p.N865S Missense 8/20 - 4
1-27089640-C-A c.2596C>A p.R866= Synonymous 8/20 - 2
1-27089640-C-T c.2596C>T p.R866W Missense 8/20 - 2
1-27089642-G-A c.2598G>A p.R866= Synonymous 8/20 - 2
1-27089642-G-C c.2598G>C p.R866= Synonymous 8/20 - 2
1-27089642-G-T c.2598G>T p.R866= Synonymous 8/20 - 2
1-27089641-G-A c.2597G>A p.R866Q Missense 8/20 - 7
1-27089641-G-T c.2597G>T p.R866L Missense 8/20 - 1
1-27089643-C-T c.2599C>T p.P867S Missense 8/20 - 1
1-27089644-CCT-C c.2600_2601del p.P867Lfs*4 Frameshift 8/20 - 1
1-27089644-C-T c.2600C>T p.P867L Missense 8/20 - 1
1-27089646-T-G c.2602T>G p.Y868D Missense 8/20 - 1
1-27089649-G-A c.2605G>A p.G869S Missense 8/20 - 7
1-27089650-G-A c.2606G>A p.G869D Missense 8/20 - 1
1-27089650-G-T c.2606G>T p.G869V Missense 8/20 - 1
1-27089652-C-G c.2608C>G p.P870A Missense 8/20 - 2
1-27089653-C-T c.2609C>T p.P870L Missense 8/20 - 3
1-27089655-A-T c.2611A>T p.N871Y Missense 8/20 - 1
1-27089656-A-C c.2612A>C p.N871T Missense 8/20 - 1
1-27089659-T-C c.2615T>C p.M872T Missense 8/20 - 3
1-27089661-G-A c.2617G>A p.A873T Missense 8/20 - 2
1-27089661-G-T c.2617G>T p.A873S Missense 8/20 - 1
1-27089662-C-A c.2618C>A p.A873D Missense 8/20 - 1
1-27089662-C-T c.2618C>T p.A873V Missense 8/20 - 3
1-27089663-C-A c.2619C>A p.A873= Synonymous 8/20 - 1
1-27089663-C-G c.2619C>G p.A873= Synonymous 8/20 - 1
1-27089663-C-T c.2619C>T p.A873= Synonymous 8/20 - 1
1-27089664-A-T c.2620A>T p.N874Y Missense 8/20 - 1
1-27089664-CAA-C c.2620_2621del p.N874Yfs*61 Frameshift 8/20 - 1
1-27089665-A-G c.2621A>G p.N874S Missense 8/20 - 6
1-27089666-T-A c.2622T>A p.N874K Missense 8/20 - 1
1-27089666-T-C c.2622T>C p.N874= Synonymous 8/20 - 1
1-27089667-A-G c.2623A>G p.M875V Missense 8/20 - 1
1-27089670-C-A c.2626C>A p.P876T Missense 8/20 - 1
1-27089670-C-T c.2626C>T p.P876S Missense 8/20 - 3
1-27089673-C-A c.2629C>A p.P877T Missense 8/20 - 2
1-27089674-C-T c.2630C>T p.P877L Missense 8/20 - 1
1-27089676-C-G c.2632C>G p.Q878E Missense 8/20 - 1
1-27089676-C-T c.2632C>T p.Q878* Nonsense 8/20 - 11
1-27089677-A-C c.2633A>C p.Q878P Missense 8/20 - 1
1-27089679-G-A c.2635G>A p.V879I Missense 8/20 - 1
1-27089679-G-T c.2635G>T p.V879F Missense 8/20 - 2
1-27089680-TT-AG c.2636_2637delinsAG p.V879E Missense 8/20 - 1
1-27089681-T-A c.2637T>A p.V879= Synonymous 8/20 - 1
1-27089681-T-C c.2637T>C p.V879= Synonymous 8/20 - 1
1-27089681-T-G c.2637T>G p.V879= Synonymous 8/20 - 1
1-27089681-TGGGTCAGGGATGTGTCCCCCACCAG-T c.2641_2665del p.S881Afs*2 Frameshift 8/20 - 1
1-27089686-C-A c.2642C>A p.S881* Nonsense 8/20 - 2
1-27089686-CA-GT c.2642_2643delinsGT p.S881C Missense 8/20 - 1
1-27089688-G-T c.2644G>T p.G882W Missense 8/20 - 5
1-27089689-GG-AC c.2645_2646delinsAC p.G882D Missense 8/20 - 1
1-27089687-AG-A c.2646del p.M883Cfs*8 Frameshift 8/20 - 1
1-27089690-G-A c.2646G>A p.G882= Synonymous 8/20 - 4
1-27089690-G-C c.2646G>C p.G882= Synonymous 8/20 - 4
1-27089690-G-T c.2646G>T p.G882= Synonymous 8/20 - 3
1-27089693-G-A c.2649G>A p.M883I Missense 8/20 - 1
1-27089693-G-C c.2649G>C p.M883I Missense 8/20 - 1
1-27089693-G-T c.2649G>T p.M883I Missense 8/20 - 1
1-27089694-T-C c.2650T>C p.C884R Missense 8/20 - 2
1-27089695-G-A c.2651G>A p.C884Y Missense 8/20 - 1
1-27089696-T-A c.2652T>A p.C884* Nonsense 8/20 - 1
1-27089696-T-C c.2652T>C p.C884= Synonymous 8/20 - 1
1-27089697-C-G c.2653C>G p.P885A Missense 8/20 - 1
1-27089697-C-T c.2653C>T p.P885S Missense 8/20 - 4
1-27089698-C-T c.2654C>T p.P885L Missense 8/20 - 3
1-27089699-C-A c.2655C>A p.P885= Synonymous 8/20 - 1
1-27089700-C-T c.2656C>T p.P886S Missense 8/20 - 3
1-27089696-T-TC c.2657dup p.P887Tfs*49 Frameshift 8/20 - 1
1-27089703-C-G c.2659C>G p.P887A Missense 8/20 - 1
1-27089703-C-T c.2659C>T p.P887S Missense 8/20 - 1
1-27089704-CA-AT c.2660_2661delinsAT p.P887H Missense 8/20 - 1
1-27089704-C-T c.2660C>T p.P887L Missense 8/20 - 4
1-27089708-G-GCCTCACTCTGTTGCCTA c.2664_2665insCCTCACTCTGTTGCCTA p.G889Pfs*6 Frameshift 8/20 - 2
1-27089709-G-A c.2665G>A p.G889S Missense 8/20 - 2
1-27089705-A-AG c.2666dup p.M890Hfs*46 Frameshift 8/20 - 2
1-27089705-AG-A c.2666del p.G889Afs*2 Frameshift 8/20 - 3
1-27089710-G-A c.2666G>A p.G889D Missense 8/20 - 1
1-27089710-G-T c.2666G>T p.G889V Missense 8/20 - 1
1-27089710-G-GC c.2667dup p.M890Hfs*46 Frameshift 8/20 - 1
1-27089711-C-A c.2667C>A p.G889= Synonymous 8/20 - 1
1-27089711-C-G c.2667C>G p.G889= Synonymous 8/20 - 1
1-27089711-C-T c.2667C>T p.G889= Synonymous 8/20 - 1
1-27089711-GC-G c.2667del p.M890* Frameshift 8/20 - 1
1-27089712-A-G c.2668A>G p.M890V Missense 8/20 - 4
1-27089712-AT-TA c.2668_2669delinsTA p.M890* Nonsense 8/20 - 1
1-27089714-G-A c.2670G>A p.M890I Missense 8/20 - 1
1-27089717-C-T c.2673C>T p.N891= Synonymous 8/20 - 1
1-27089718-C-T c.2674C>T p.R892W Missense 8/20 - 3
1-27089719-G-A c.2675G>A p.R892Q Missense 8/20 - 5
1-27089720-G-A c.2676G>A p.R892= Synonymous 8/20 - 1
1-27089720-GGAAAA-G c.2676_2680del p.K893Pfs*41 Frameshift 8/20 - 1
1-27089725-CC-TG c.2681_2682delinsTG p.T894M Missense 8/20 - 1
1-27089725-C-T c.2681C>T p.T894I Missense 8/20 - 3
1-27089726-C-A c.2682C>A p.T894= Synonymous 8/20 - 1
1-27089726-C-G c.2682C>G p.T894= Synonymous 8/20 - 1
1-27089726-C-T c.2682C>T p.T894= Synonymous 8/20 - 1
1-27089727-C-T c.2683C>T p.Q895* Nonsense 8/20 - 3
1-27089728-A-T c.2684A>T p.Q895L Missense 8/20 - 1
1-27089730-G-C c.2686G>C p.E896Q Missense 8/20 - 2
1-27089730-G-T c.2686G>T p.E896* Nonsense 8/20 - 12
1-27089730-GA-G c.2689del p.T897Lfs*22 Frameshift 8/20 - 1
1-27089733-A-G c.2689A>G p.T897A Missense 8/20 - 1
1-27089734-CT-TG c.2690_2691delinsTG p.T897M Missense 8/20 - 1
1-27089736-G-A c.2692G>A p.A898T Missense 8/20 - 1
1-27089737-C-T c.2693C>T p.A898V Missense 8/20 - 1
1-27089739-G-T c.2695G>T p.V899F Missense 8/20 - 1
1-27089739-GTC-ATG c.2695_2697delinsATG p.V899M Missense 8/20 - 2
1-27089741-C-A c.2697C>A p.V899= Synonymous 8/20 - 1
1-27089741-C-G c.2697C>G p.V899= Synonymous 8/20 - 1
1-27089741-C-T c.2697C>T p.V899= Synonymous 8/20 - 2
1-27089742-G-A c.2698G>A p.A900T Missense 8/20 - 12
1-27089742-G-T c.2698G>T p.A900S Missense 8/20 - 1
1-27089745-A-G c.2701A>G p.M901V Missense 8/20 - 1
1-27089748-C-T c.2704C>T p.H902Y Missense 8/20 - 1
1-27089751-G-C c.2707G>C p.V903L Missense 8/20 - 1
1-27089751-G-T c.2707G>T p.V903F Missense 8/20 - 1
1-27089751-GTT-ATG c.2707_2709delinsATG p.V903M Missense 8/20 - 1
1-27089754-G-T c.2710G>T p.A904S Missense 8/20 - 1
1-27089757-G-A c.2713G>A p.A905T Missense 8/20 - 2
1-27089758-CC-AG c.2714_2715delinsAG p.A905E Missense 8/20 - 1
1-27089758-C-G c.2714C>G p.A905G Missense 8/20 - 1
1-27089760-A-T c.2716A>T p.N906Y Missense 8/20 - 1
1-27089761-A-C c.2717A>C p.N906T Missense 8/20 - 1
1-27089761-A-G c.2717A>G p.N906S Missense 8/20 - 2
1-27089762-C-A c.2718C>A p.N906K Missense 8/20 - 4
1-27089762-C-G c.2718C>G p.N906K Missense 8/20 - 9
1-27089763-CT-C c.2719del p.S907Lfs*12 Frameshift 8/20 - 1
1-27089763-T-G c.2719T>G p.S907A Missense 8/20 - 1
1-27089764-C-G c.2720C>G p.S907C Missense 8/20 - 1
1-27089764-TC-T c.2720del p.S907Lfs*12 Frameshift 8/20 - 1
1-27089764-CTA-C c.2722_2723del p.I908Pfs*27 Frameshift 8/20 - 1
1-27089766-A-G c.2722A>G p.I908V Missense 8/20 - 2
1-27089767-ATCCAAAACAG-A c.2723_2732del p.I908Sfs*8 SpliceDonorDeletion 8/20 - 1
1-27089767-ATCCAAAACAGGT-A c.2723_2732+2del - SpliceDonorDeletion 8/20 8/19 1
1-27089768-C-G c.2724C>G p.I908M Missense 8/20 - 2
1-27089767-TC-T c.2725del p.Q909Kfs*10 Frameshift 8/20 - 1
1-27089769-C-A c.2725C>A p.Q909K Missense 8/20 - 1
1-27089769-C-G c.2725C>G p.Q909E Missense 8/20 - 2
1-27089769-C-T c.2725C>T p.Q909* Nonsense 8/20 - 7
1-27089770-A-ATT c.2726_2727insTT p.Q909Hfs*2 Frameshift 8/20 - 1
1-27089770-A-G c.2726A>G p.Q909R Missense 8/20 - 1
1-27089770-A-T c.2726A>T p.Q909L Missense 8/20 - 1
1-27089772-A-T c.2728A>T p.N910Y Missense 8/20 - 1
1-27089773-A-AC c.2730dup p.R911Qfs*25 SpliceDonorInsertion 8/20 - 2
1-27089774-AC-A c.2730del p.N910Kfs*9 Frameshift 8/20 - 1
1-27089774-C-A c.2730C>A p.N910K Missense 8/20 - 1
1-27089774-C-CG c.2730_2731insG p.R911Efs*25 SpliceDonorInsertion 8/20 - 2
1-27089774-C-CT c.2730_2731insT p.R911* SpliceDonorInsertion 8/20 - 2
1-27089774-C-G c.2730C>G p.N910K Missense 8/20 - 1
1-27089774-C-T c.2730C>T p.N910= Synonymous 8/20 - 1
1-27089774-C-CA c.2731dup p.R911Kfs*25 SpliceDonorInsertion 8/20 - 2
1-27089775-A-T c.2731A>T p.R911W Missense 8/20 - 2
1-27089776-G-A c.2732G>A p.R911K Missense 8/20 - 2
1-27089776-G-T c.2732G>T p.R911M Missense 8/20 - 1
1-27089775-A-AG c.2732+1dup - SpliceDonorInsertion - 8/19 1
1-27089777-G-A c.2732+1G>A - IntronicSNV - 8/19 1
1-27089777-G-T c.2732+1G>T - IntronicSNV - 8/19 2
1-27089778-T-A c.2732+2T>A - IntronicSNV - 8/19 1
1-27089778-T-C c.2732+2T>C - IntronicSNV - 8/19 3
1-27089778-T-G c.2732+2T>G - IntronicSNV - 8/19 2
1-27089873-A-G c.2732+97A>G - IntronicSNV - 8/19 2
1-27092696-C-G c.2733-16C>G - IntronicSNV - 8/19 1
1-27092710-AG-A c.2733del p.R911Sfs*8 Frameshift 9/20 - 2
1-27092711-G-GGT c.2733_2734insTG p.P912Cfs*8 SpliceAcceptorInsertion 9/20 - 1
1-27092713-C-T c.2734C>T p.P912S Missense 9/20 - 4
1-27092714-C-A c.2735C>A p.P912Q Missense 9/20 - 2
1-27092714-C-T c.2735C>T p.P912L Missense 9/20 - 7
1-27092716-C-T c.2737C>T p.P913S Missense 9/20 - 2
1-27092719-G-T c.2740G>T p.G914C Missense 9/20 - 1
1-27092718-AG-A c.2741del p.G914Afs*5 Frameshift 9/20 - 1
1-27092720-G-A c.2741G>A p.G914D Missense 9/20 - 1
1-27092720-G-C c.2741G>C p.G914A Missense 9/20 - 2
1-27092722-T-A c.2743T>A p.Y915N Missense 9/20 - 1
1-27092725-C-A c.2746C>A p.P916T Missense 9/20 - 2
1-27092726-CC-AA c.2747_2748delinsAA p.P916Q Missense 9/20 - 1
1-27092726-C-T c.2747C>T p.P916L Missense 9/20 - 2
1-27092723-A-AC c.2748dup p.N917Qfs*19 Frameshift 9/20 - 1
1-27092728-A-C c.2749A>C p.N917H Missense 9/20 - 1
1-27092729-A-G c.2750A>G p.N917S Missense 9/20 - 3
1-27092731-A-G c.2752A>G p.M918V Missense 9/20 - 6
1-27092732-T-C c.2753T>C p.M918T Missense 9/20 - 1
1-27092732-T-G c.2753T>G p.M918R Missense 9/20 - 1
1-27092733-G-A c.2754G>A p.M918I Missense 9/20 - 4
1-27092733-G-C c.2754G>C p.M918I Missense 9/20 - 4
1-27092733-G-T c.2754G>T p.M918I Missense 9/20 - 2
1-27092732-TGAATCAAGGG-T c.2755_2764del p.N919Afs*2 Frameshift 9/20 - 1
1-27092735-A-G c.2756A>G p.N919S Missense 9/20 - 1
1-27092737-C-A c.2758C>A p.Q920K Missense 9/20 - 1
1-27092737-C-T c.2758C>T p.Q920* Nonsense 9/20 - 15
1-27092739-A-C c.2760A>C p.Q920H Missense 9/20 - 2
1-27092739-A-T c.2760A>T p.Q920H Missense 9/20 - 2
1-27092741-G-A c.2762G>A p.G921E Missense 9/20 - 1
1-27092742-G-A c.2763G>A p.G921= Synonymous 9/20 - 1
1-27092742-G-C c.2763G>C p.G921= Synonymous 9/20 - 1
1-27092742-G-T c.2763G>T p.G921= Synonymous 9/20 - 1
1-27092743-G-A c.2764G>A p.G922S Missense 9/20 - 1
1-27092743-G-C c.2764G>C p.G922R Missense 9/20 - 1
1-27092739-A-AG c.2765dup p.M923Hfs*13 Frameshift 9/20 - 4
1-27092739-AG-A c.2765del p.G922Afs*2 Frameshift 9/20 - 1
1-27092744-G-A c.2765G>A p.G922D Missense 9/20 - 1
1-27092745-C-A c.2766C>A p.G922= Synonymous 9/20 - 1
1-27092745-C-G c.2766C>G p.G922= Synonymous 9/20 - 1
1-27092745-C-T c.2766C>T p.G922= Synonymous 9/20 - 1
1-27092746-A-G c.2767A>G p.M923V Missense 9/20 - 1
1-27092746-A-AT c.2768dup p.M923Ifs*13 Frameshift 9/20 - 1
1-27092748-G-A c.2769G>A p.M923I Missense 9/20 - 5
1-27092748-G-C c.2769G>C p.M923I Missense 9/20 - 4
1-27092748-G-T c.2769G>T p.M923I Missense 9/20 - 4
1-27092752-G-A c.2773G>A p.G925R Missense 9/20 - 1
1-27092752-G-C c.2773G>C p.G925R Missense 9/20 - 1
1-27092752-G-T c.2773G>T p.G925* Nonsense 9/20 - 3
1-27092750-TG-T c.2774del p.G925Efs*16 Frameshift 9/20 - 1
1-27092753-G-A c.2774G>A p.G925E Missense 9/20 - 1
1-27092753-GA-AC c.2774_2775delinsAC p.G925D Missense 9/20 - 1
1-27092753-G-C c.2774G>C p.G925A Missense 9/20 - 1
1-27092755-A-C c.2776A>C p.T926P Missense 9/20 - 2
1-27092755-A-G c.2776A>G p.T926A Missense 9/20 - 1
1-27092757-T-A c.2778T>A p.T926= Synonymous 9/20 - 2
1-27092757-T-C c.2778T>C p.T926= Synonymous 9/20 - 2
1-27092757-T-G c.2778T>G p.T926= Synonymous 9/20 - 2
1-27092758-G-A c.2779G>A p.G927R Missense 9/20 - 1
1-27092758-G-T c.2779G>T p.G927* Nonsense 9/20 - 1
1-27092759-G-C c.2780G>C p.G927A Missense 9/20 - 4
1-27092759-G-GA c.2781dup p.P928Tfs*8 Frameshift 9/20 - 1
1-27092761-C-A c.2782C>A p.P928T Missense 9/20 - 2
1-27092764-C-A c.2785C>A p.P929T Missense 9/20 - 1
1-27092764-C-G c.2785C>G p.P929A Missense 9/20 - 2
1-27092764-C-T c.2785C>T p.P929S Missense 9/20 - 4
1-27092765-C-T c.2786C>T p.P929L Missense 9/20 - 4
1-27092765-CT-C c.2788del p.Y930Mfs*11 Frameshift 9/20 - 1
1-27092768-A-G c.2789A>G p.Y930C Missense 9/20 - 3
1-27092768-A-T c.2789A>T p.Y930F Missense 9/20 - 1
1-27092770-G-A c.2791G>A p.G931R Missense 9/20 - 1
1-27092770-G-T c.2791G>T p.G931* Nonsense 9/20 - 1
1-27092771-G-T c.2792G>T p.G931V Missense 9/20 - 1
1-27092772-A-C c.2793A>C p.G931= Synonymous 9/20 - 1
1-27092772-A-G c.2793A>G p.G931= Synonymous 9/20 - 1
1-27092772-A-T c.2793A>T p.G931= Synonymous 9/20 - 1
1-27092773-C-T c.2794C>T p.Q932* Nonsense 9/20 - 3
1-27092774-AAGGGATTAATAGT-A c.2797_2809del p.G933Wfs*4 Frameshift 9/20 - 1
1-27092776-G-A c.2797G>A p.G933R Missense 9/20 - 1
1-27092776-G-C c.2797G>C p.G933R Missense 9/20 - 1
1-27092776-GG-AA c.2797_2798delinsAA p.G933K Missense 9/20 - 1
1-27092776-G-T c.2797G>T p.G933W Missense 9/20 - 1
1-27092777-G-A c.2798G>A p.G933E Missense 9/20 - 1
1-27092777-G-T c.2798G>T p.G933V Missense 9/20 - 1
1-27092778-G-A c.2799G>A p.G933= Synonymous 9/20 - 4
1-27092778-G-C c.2799G>C p.G933= Synonymous 9/20 - 3
1-27092778-G-T c.2799G>T p.G933= Synonymous 9/20 - 5
1-27092780-ATTAATAGTATGGCT-A c.2801_2814del p.I934Rfs*68 Frameshift 9/20 - 1
1-27092780-T-C c.2801T>C p.I934T Missense 9/20 - 2
1-27092783-A-G c.2804A>G p.N935S Missense 9/20 - 2
1-27092783-A-AT c.2805dup p.S936* Nonsense 9/20 - 1
1-27092784-T-TGGCTC c.2805_2806insGGCTC p.S936Gfs*7 Frameshift 9/20 - 3
1-27092786-G-A c.2807G>A p.S936N Missense 9/20 - 2
1-27092791-G-A c.2812G>A p.A938T Missense 9/20 - 2
1-27092792-C-A c.2813C>A p.A938D Missense 9/20 - 2
1-27092794-G-A c.2815G>A p.G939S Missense 9/20 - 1
1-27092795-G-T c.2816G>T p.G939V Missense 9/20 - 1
1-27092795-G-GC c.2817dup p.M940Hfs*67 Frameshift 9/20 - 1
1-27092796-C-A c.2817C>A p.G939= Synonymous 9/20 - 1
1-27092796-C-G c.2817C>G p.G939= Synonymous 9/20 - 1
1-27092796-C-T c.2817C>T p.G939= Synonymous 9/20 - 1
1-27092797-A-G c.2818A>G p.M940V Missense 9/20 - 2
1-27092800-A-G c.2821A>G p.I941V Missense 9/20 - 2
1-27092801-T-C c.2822T>C p.I941T Missense 9/20 - 1
1-27092802-C-A c.2823C>A p.I941= Synonymous 9/20 - 1
1-27092802-C-T c.2823C>T p.I941= Synonymous 9/20 - 1
1-27092802-TC-T c.2823del p.N942Tfs*26 Frameshift 9/20 - 1
1-27092802-CA-C c.2825del p.N942Tfs*26 Frameshift 9/20 - 1
1-27092804-A-G c.2825A>G p.N942S Missense 9/20 - 2
1-27092806-C-A c.2827C>A p.P943T Missense 9/20 - 7
1-27092804-A-AC c.2828dup p.Q944Sfs*63 Frameshift 9/20 - 1
1-27092804-AC-A c.2828del p.P943Lfs*25 Frameshift 9/20 - 1
1-27092807-C-G c.2828C>G p.P943R Missense 9/20 - 2
1-27092807-C-T c.2828C>T p.P943L Missense 9/20 - 3
1-27092808-CTCA-C c.2829_2831del p.Q944del InFrameDeletion 9/20 - 2
1-27092809-C-A c.2830C>A p.Q944K Missense 9/20 - 3
1-27092809-CA-AC c.2830_2831delinsAC p.Q944T Missense 9/20 - 1
1-27092809-C-G c.2830C>G p.Q944E Missense 9/20 - 4
1-27092809-C-T c.2830C>T p.Q944* Nonsense 9/20 - 39
1-27092812-GGA-AGC c.2833_2835delinsAGC p.G945S Missense 9/20 - 1
1-27092812-G-T c.2833G>T p.G945* Nonsense 9/20 - 4
1-27092810-AG-A c.2834del p.G945Dfs*23 Frameshift 9/20 - 3
1-27092813-G-A c.2834G>A p.G945E Missense 9/20 - 1
1-27092815-C-A c.2836C>A p.P946T Missense 9/20 - 3
1-27092816-CCCCCATA-C c.2837_2843del p.P946Lfs*20 Frameshift 9/20 - 1
1-27092816-C-T c.2837C>T p.P946L Missense 9/20 - 1
1-27092818-C-T c.2839C>T p.P947S Missense 9/20 - 1
1-27092814-A-AC c.2840dup p.Y948Ifs*59 Frameshift 9/20 - 2
1-27092814-AC-A c.2840del p.P947Hfs*21 Frameshift 9/20 - 4
1-27092819-C-A c.2840C>A p.P947Q Missense 9/20 - 1
1-27092819-CA-AT c.2840_2841delinsAT p.P947H Missense 9/20 - 1
1-27092820-A-C c.2841A>C p.P947= Synonymous 9/20 - 2
1-27092820-A-G c.2841A>G p.P947= Synonymous 9/20 - 2
1-27092820-A-T c.2841A>T p.P947= Synonymous 9/20 - 2
1-27092823-T-A c.2844T>A p.Y948* Nonsense 9/20 - 2
1-27092823-T-G c.2844T>G p.Y948* Nonsense 9/20 - 2
1-27092822-A-AT c.2845dup p.S949Ffs*58 Frameshift 9/20 - 1
1-27092824-T-C c.2845T>C p.S949P Missense 9/20 - 3
1-27092824-TTC-T c.2845_2846del p.S949Hfs*57 Frameshift 9/20 - 1
1-27092825-C-T c.2846C>T p.S949F Missense 9/20 - 7
1-27092827-A-G c.2848A>G p.M950V Missense 9/20 - 1
1-27092830-G-T c.2851G>T p.G951C Missense 9/20 - 1
1-27092828-T-TG c.2852dup p.G952Wfs*55 Frameshift 9/20 - 1
1-27092831-G-A c.2852G>A p.G951D Missense 9/20 - 1
1-27092833-G-A c.2854G>A p.G952R Missense 9/20 - 1
1-27092833-G-C c.2854G>C p.G952R Missense 9/20 - 1
1-27092833-TGGAA-T c.2854_2857del p.G952Pfs*15 Frameshift 9/20 - 1
1-27092835-A-G c.2856A>G p.G952= Synonymous 9/20 - 1
1-27092836-A-G c.2857A>G p.T953A Missense 9/20 - 1
1-27092839-A-C c.2860A>C p.M954L Missense 9/20 - 1
1-27092839-A-G c.2860A>G p.M954V Missense 9/20 - 2
1-27092839-A-T c.2860A>T p.M954L Missense 9/20 - 1
1-27092841-G-A c.2862G>A p.M954I Missense 9/20 - 2
1-27092841-G-C c.2862G>C p.M954I Missense 9/20 - 2
1-27092841-GG-TT c.2862_2863delinsTT p.M954_A955delinsIS MultiAAMissense 9/20 - 2
1-27092841-G-T c.2862G>T p.M954I Missense 9/20 - 2
1-27092842-G-A c.2863G>A p.A955T Missense 9/20 - 4
1-27092843-C-T c.2864C>T p.A955V Missense 9/20 - 1
1-27092845-A-G c.2866A>G p.N956D Missense 9/20 - 2
1-27092845-A-T c.2866A>T p.N956Y Missense 9/20 - 1
1-27092846-A-G c.2867A>G p.N956S Missense 9/20 - 1
1-27092847-AC-A c.2868del p.N956Kfs*12 Frameshift 9/20 - 1
1-27092847-C-T c.2868C>T p.N956= Synonymous 9/20 - 1
1-27092849-A-C c.2870A>C p.N957T Missense 9/20 - 1
1-27092849-A-G c.2870A>G p.N957S Missense 9/20 - 3
1-27092851-T-C c.2872T>C p.S958P Missense 9/20 - 1
1-27092852-C-T c.2873C>T p.S958F Missense 9/20 - 1
1-27092852-CT-AA c.2873_2874delinsAA p.S958* Nonsense 9/20 - 2
1-27092855-C-G c.2876C>G p.A959G Missense 9/20 - 1
1-27092855-C-T c.2876C>T p.A959V Missense 9/20 - 1
1-27092855-C-CA c.2877dup p.G960Rfs*47 SpliceDonorInsertion 9/20 - 1
1-27092856-A-AC c.2877_2878insC p.G960Rfs*47 SpliceDonorInsertion 9/20 - 1
1-27092856-A-AT c.2877_2878insT p.G960Wfs*47 SpliceDonorInsertion 9/20 - 1
1-27092857-G-A c.2878G>A p.G960R Missense 9/20 - 4
1-27092857-G-C c.2878G>C p.G960R Missense 9/20 - 1
1-27092860-A-C c.2878+3A>C - IntronicSNV - 9/19 1
1-27092948-G-A c.2879G>A p.G960E Missense 10/20 - 3
1-27092948-G-T c.2879G>T p.G960V Missense 10/20 - 4
1-27092950-A-C c.2881A>C p.M961L Missense 10/20 - 1
1-27092952-G-A c.2883G>A p.M961I Missense 10/20 - 2
1-27092952-G-C c.2883G>C p.M961I Missense 10/20 - 1
1-27092952-G-T c.2883G>T p.M961I Missense 10/20 - 1
1-27092953-G-A c.2884G>A p.A962T Missense 10/20 - 3
1-27092953-G-C c.2884G>C p.A962P Missense 10/20 - 1
1-27092954-C-G c.2885C>G p.A962G Missense 10/20 - 1
1-27092954-C-T c.2885C>T p.A962V Missense 10/20 - 2
1-27092956-G-A c.2887G>A p.A963T Missense 10/20 - 3
1-27092956-G-C c.2887G>C p.A963P Missense 10/20 - 1
1-27092956-G-GC c.2889dup p.S964Qfs*43 Frameshift 10/20 - 1
1-27092958-C-CT c.2889_2890insT p.S964* Nonsense 10/20 - 2
1-27092959-AG-TA c.2890_2891delinsTA p.S964Y Missense 10/20 - 1
1-27092960-G-A c.2891G>A p.S964N Missense 10/20 - 1
1-27092961-C-T c.2892C>T p.S964= Synonymous 10/20 - 1
1-27092962-C-T c.2893C>T p.P965S Missense 10/20 - 1
1-27092963-CCAGA-C c.2894_2897del p.P965Rfs*2 Frameshift 10/20 - 1
1-27092965-G-A c.2896G>A p.E966K Missense 10/20 - 1
1-27092965-G-C c.2896G>C p.E966Q Missense 10/20 - 2
1-27092965-G-T c.2896G>T p.E966* Nonsense 10/20 - 4
1-27092966-A-G c.2897A>G p.E966G Missense 10/20 - 1
1-27092967-G-C c.2898G>C p.E966D Missense 10/20 - 1
1-27092967-G-T c.2898G>T p.E966D Missense 10/20 - 1
1-27092968-A-C c.2899A>C p.M967L Missense 10/20 - 1
1-27092968-A-G c.2899A>G p.M967V Missense 10/20 - 1
1-27092968-A-T c.2899A>T p.M967L Missense 10/20 - 1
1-27092970-G-A c.2901G>A p.M967I Missense 10/20 - 1
1-27092970-G-C c.2901G>C p.M967I Missense 10/20 - 1
1-27092970-G-T c.2901G>T p.M967I Missense 10/20 - 1
1-27092971-A-G c.2902A>G p.M968V Missense 10/20 - 3
1-27092974-G-A c.2905G>A p.G969S Missense 10/20 - 6
1-27092975-G-C c.2906G>C p.G969A Missense 10/20 - 1
1-27092976-C-T c.2907C>T p.G969= Synonymous 10/20 - 1
1-27092975-GCCTTGGGGATGTAAAGTTAA-G c.2908_2927del p.L970Sfs*30 Frameshift 10/20 - 1
1-27092977-C-A c.2908C>A p.L970I Missense 10/20 - 2
1-27092977-C-G c.2908C>G p.L970V Missense 10/20 - 1
1-27092978-T-C c.2909T>C p.L970P Missense 10/20 - 2
1-27092978-T-G c.2909T>G p.L970R Missense 10/20 - 1
1-27092977-C-CT c.2910dup p.G971Wfs*36 Frameshift 10/20 - 1
1-27092980-G-A c.2911G>A p.G971R Missense 10/20 - 1
1-27092979-TG-T c.2914del p.D972Mfs*2 Frameshift 10/20 - 3
1-27092983-G-A c.2914G>A p.D972N Missense 10/20 - 1
1-27092986-G-A c.2917G>A p.V973I Missense 10/20 - 1
1-27092989-A-T c.2920A>T p.K974* Nonsense 10/20 - 1
1-27092990-A-G c.2921A>G p.K974R Missense 10/20 - 2
1-27092988-AAAGTT-A c.2922_2926del p.K974Nfs*31 Frameshift 10/20 - 3
1-27092993-T-A c.2924T>A p.L975* Nonsense 10/20 - 1
1-27092993-T-G c.2924T>G p.L975* Nonsense 10/20 - 1
1-27092995-A-G c.2926A>G p.T976A Missense 10/20 - 1
1-27092994-AACTCC-A c.2927_2931del p.T976Sfs*29 Frameshift 10/20 - 1
1-27092996-C-T c.2927C>T p.T976I Missense 10/20 - 1
1-27092998-C-G c.2929C>G p.P977A Missense 10/20 - 1
1-27092998-C-T c.2929C>T p.P977S Missense 10/20 - 1
1-27092999-C-A c.2930C>A p.P977Q Missense 10/20 - 1
1-27092999-CA-AT c.2930_2931delinsAT p.P977H Missense 10/20 - 1
1-27092999-C-T c.2930C>T p.P977L Missense 10/20 - 2
1-27093002-C-G c.2933C>G p.A978G Missense 10/20 - 1
1-27093002-C-T c.2933C>T p.A978V Missense 10/20 - 2
1-27093004-A-G c.2935A>G p.T979A Missense 10/20 - 2
1-27093005-CC-TG c.2936_2937delinsTG p.T979M Missense 10/20 - 1
1-27093005-C-T c.2936C>T p.T979I Missense 10/20 - 3
1-27093009-A-G c.2940A>G p.K980= Synonymous 10/20 - 1
1-27093010-A-G c.2941A>G p.M981V Missense 10/20 - 1
1-27093010-AT-TA c.2941_2942delinsTA p.M981* Nonsense 10/20 - 1
1-27093011-T-C c.2942T>C p.M981T Missense 10/20 - 1
1-27093012-G-A c.2943G>A p.M981I Missense 10/20 - 2
1-27093012-G-C c.2943G>C p.M981I Missense 10/20 - 1
1-27093012-G-T c.2943G>T p.M981I Missense 10/20 - 1
1-27093011-TGAACAACAAGGCAGATG-T c.2944_2960del p.N982Dfs*19 Frameshift 10/20 - 1
1-27093015-C-A c.2946C>A p.N982K Missense 10/20 - 2
1-27093017-A-G c.2948A>G p.N983S Missense 10/20 - 5
1-27093012-GAAC-G c.2949_2951del p.N983del InFrameDeletion 10/20 - 2
1-27093020-A-C c.2951A>C p.K984T Missense 10/20 - 1
1-27093020-A-G c.2951A>G p.K984R Missense 10/20 - 1
1-27093021-G-A c.2952G>A p.K984= Synonymous 10/20 - 1
1-27093021-G-C c.2952G>C p.K984N Missense 10/20 - 1
1-27093021-G-T c.2952G>T p.K984N Missense 10/20 - 1
1-27093025-G-T c.2956G>T p.D986Y Missense 10/20 - 1
1-27093025-GATGGGAC-G c.2958_2964del p.G987Pfs*50 Frameshift 10/20 - 1
1-27093028-G-A c.2959G>A p.G987R Missense 10/20 - 3
1-27093028-G-C c.2959G>C p.G987R Missense 10/20 - 3
1-27093029-G-A c.2960G>A p.G987E Missense 10/20 - 1
1-27093032-C-A c.2963C>A p.T988K Missense 10/20 - 2
1-27093034-C-T c.2965C>T p.P989S Missense 10/20 - 2
1-27093035-C-T c.2966C>T p.P989L Missense 10/20 - 1
1-27093037-A-C c.2968A>C p.K990Q Missense 10/20 - 2
1-27093037-A-T c.2968A>T p.K990* Nonsense 10/20 - 1
1-27093035-CCAAGA-C c.2969_2973del p.K990Rfs*15 Frameshift 10/20 - 1
1-27093039-G-T c.2970G>T p.K990N Missense 10/20 - 1
1-27093040-A-C c.2971A>C p.T991P Missense 10/20 - 1
1-27093040-A-T c.2971A>T p.T991S Missense 10/20 - 2
1-27093043-G-T c.2974G>T p.E992* Nonsense 10/20 - 4
1-27093046-TC-CT c.2977_2978delinsCT p.S993L Missense 10/20 - 1
1-27093047-C-CTGG c.2978_2979insTGG p.S993_K994insG InFrameInsertion 10/20 - 1
1-27093047-C-G c.2978C>G p.S993C Missense 10/20 - 2
1-27093049-A-T c.2980A>T p.K994* Nonsense 10/20 - 2
1-27093052-T-A c.2983T>A p.S995T Missense 10/20 - 1
1-27093053-C-G c.2984C>G p.S995C Missense 10/20 - 1
1-27093053-C-T c.2984C>T p.S995F Missense 10/20 - 2
1-27093054-C-A c.2985C>A p.S995= Synonymous 10/20 - 1
1-27093054-C-CT c.2985_2986insT p.K996* Nonsense 10/20 - 1
1-27093055-A-T c.2986A>T p.K996* Nonsense 10/20 - 1
1-27093057-G-C c.2988G>C p.K996N Missense 10/20 - 1
1-27093057-G-T c.2988G>T p.K996N Missense 10/20 - 1
1-27093058-G-A c.2988+1G>A - IntronicSNV - 10/19 5
1-27093058-G-T c.2988+1G>T - IntronicSNV - 10/19 1
1-27093141-G-T c.2988+84G>T - IntronicSNV - 10/19 1
1-27093657-A-G c.2988+600A>G - IntronicSNV - 10/19 2
1-27094156-A-G c.2989-125A>G - IntronicSNV - 10/19 4
1-27094283-A-C c.2991A>C p.K997N Missense 11/20 - 1
1-27094283-A-G c.2991A>G p.K997= Synonymous 11/20 - 1
1-27094283-A-T c.2991A>T p.K997N Missense 11/20 - 1
1-27094283-A-AT c.2992dup p.S998Ffs*9 Frameshift 11/20 - 1
1-27094284-TC-AT c.2992_2993delinsAT p.S998I Missense 11/20 - 1
1-27094285-C-A c.2993C>A p.S998Y Missense 11/20 - 1
1-27094285-C-G c.2993C>G p.S998C Missense 11/20 - 1
1-27094284-TC-T c.2994del p.S999Vfs*40 Frameshift 11/20 - 1
1-27094289-TTC-T c.2999_3000del p.S1000Ffs*6 Frameshift 11/20 - 1
1-27094291-C-A c.2999C>A p.S1000Y Missense 11/20 - 10
1-27094291-C-T c.2999C>T p.S1000F Missense 11/20 - 4
1-27094292-T-A c.3000T>A p.S1000= Synonymous 11/20 - 1
1-27094292-T-C c.3000T>C p.S1000= Synonymous 11/20 - 1
1-27094292-T-G c.3000T>G p.S1000= Synonymous 11/20 - 1
1-27094288-GTTC-G c.3001_3003del p.S1001del InFrameDeletion 11/20 - 2
1-27094291-C-CT c.3001dup p.S1001Ffs*6 Frameshift 11/20 - 1
1-27094294-C-G c.3002C>G p.S1001C Missense 11/20 - 5
1-27094294-C-T c.3002C>T p.S1001F Missense 11/20 - 1
1-27094295-CT-C c.3003del p.T1002Lfs*37 Frameshift 11/20 - 1
1-27094295-T-A c.3003T>A p.S1001= Synonymous 11/20 - 1
1-27094295-T-C c.3003T>C p.S1001= Synonymous 11/20 - 1
1-27094295-T-G c.3003T>G p.S1001= Synonymous 11/20 - 1
1-27094296-A-G c.3004A>G p.T1002A Missense 11/20 - 1
1-27094297-C-G c.3005C>G p.T1002S Missense 11/20 - 1
1-27094298-T-A c.3006T>A p.T1002= Synonymous 11/20 - 1
1-27094298-T-C c.3006T>C p.T1002= Synonymous 11/20 - 1
1-27094298-T-G c.3006T>G p.T1002= Synonymous 11/20 - 1
1-27094300-CA-TG c.3008_3009inv p.T1003M Missense 11/20 - 2
1-27094302-A-G c.3010A>G p.T1004A Missense 11/20 - 6
1-27094301-AACC-A c.3011_3013del p.T1004del InFrameDeletion 11/20 - 1
1-27094303-CC-TG c.3011_3012delinsTG p.T1004M Missense 11/20 - 1
1-27094303-C-T c.3011C>T p.T1004I Missense 11/20 - 1
1-27094305-A-C c.3013A>C p.N1005H Missense 11/20 - 2
1-27094305-A-G c.3013A>G p.N1005D Missense 11/20 - 1
1-27094304-CA-C c.3014del p.N1005Mfs*34 Frameshift 11/20 - 1
1-27094306-A-G c.3014A>G p.N1005S Missense 11/20 - 3
1-27094306-A-T c.3014A>T p.N1005I Missense 11/20 - 1
1-27094307-T-A c.3015T>A p.N1005K Missense 11/20 - 2
1-27094307-T-G c.3015T>G p.N1005K Missense 11/20 - 2
1-27094308-G-A c.3016G>A p.E1006K Missense 11/20 - 3
1-27094308-G-T c.3016G>T p.E1006* Nonsense 11/20 - 13
1-27094308-GAGA-G c.3020_3022del p.K1007del InFrameDeletion 11/20 - 1
1-27094311-AAGATC-A c.3021_3025del p.K1007Nfs*5 Frameshift 11/20 - 1
1-27094313-G-C c.3021G>C p.K1007N Missense 11/20 - 1
1-27094313-G-T c.3021G>T p.K1007N Missense 11/20 - 1
1-27094314-A-T c.3022A>T p.I1008F Missense 11/20 - 1
1-27094318-CC-TG c.3026_3027delinsTG p.T1009M Missense 11/20 - 1
1-27094318-C-T c.3026C>T p.T1009I Missense 11/20 - 1
1-27094320-A-T c.3028A>T p.K1010* Nonsense 11/20 - 5
1-27094319-C-CA c.3029dup p.L1011Vfs*3 Frameshift 11/20 - 1
1-27094321-A-C c.3029A>C p.K1010T Missense 11/20 - 1
1-27094321-A-G c.3029A>G p.K1010R Missense 11/20 - 2
1-27094325-G-C c.3033G>C p.L1011F Missense 11/20 - 1
1-27094325-G-T c.3033G>T p.L1011F Missense 11/20 - 2
1-27094324-TGTATGAGCTGG-T c.3035_3045del p.Y1012Wfs*2 Frameshift 11/20 - 1
1-27094328-T-A c.3036T>A p.Y1012* Nonsense 11/20 - 5
1-27094328-T-C c.3036T>C p.Y1012= Synonymous 11/20 - 1
1-27094328-T-G c.3036T>G p.Y1012* Nonsense 11/20 - 5
1-27094329-G-A c.3037G>A p.E1013K Missense 11/20 - 7
1-27094329-G-T c.3037G>T p.E1013* Nonsense 11/20 - 3
1-27094330-A-T c.3038A>T p.E1013V Missense 11/20 - 1
1-27094332-C-A c.3040C>A p.L1014M Missense 11/20 - 1
1-27094332-C-CCT c.3040_3041insCT p.L1014Pfs*26 Frameshift 11/20 - 1
1-27094332-C-T c.3040C>T p.L1014= Synonymous 11/20 - 2
1-27094334-G-A c.3042G>A p.L1014= Synonymous 11/20 - 2
1-27094334-G-C c.3042G>C p.L1014= Synonymous 11/20 - 1
1-27094334-G-T c.3042G>T p.L1014= Synonymous 11/20 - 1
1-27094335-G-A c.3043G>A p.G1015S Missense 11/20 - 1
1-27094335-G-T c.3043G>T p.G1015C Missense 11/20 - 1
1-27094333-TG-T c.3044del p.G1015Vfs*24 Frameshift 11/20 - 1
1-27094336-G-C c.3044G>C p.G1015A Missense 11/20 - 1
1-27094338-G-A c.3046G>A p.G1016S Missense 11/20 - 9
1-27094339-G-A c.3047G>A p.G1016D Missense 11/20 - 1
1-27094339-G-C c.3047G>C p.G1016A Missense 11/20 - 1
1-27094339-G-T c.3047G>T p.G1016V Missense 11/20 - 1
1-27094340-T-A c.3048T>A p.G1016= Synonymous 11/20 - 1
1-27094340-T-C c.3048T>C p.G1016= Synonymous 11/20 - 1
1-27094340-T-G c.3048T>G p.G1016= Synonymous 11/20 - 1
1-27094341-G-A c.3049G>A p.E1017K Missense 11/20 - 6
1-27094341-G-C c.3049G>C p.E1017Q Missense 11/20 - 2
1-27094341-G-T c.3049G>T p.E1017* Nonsense 11/20 - 4
1-27094344-C-A c.3052C>A p.P1018T Missense 11/20 - 1
1-27094344-C-G c.3052C>G p.P1018A Missense 11/20 - 1
1-27094345-C-T c.3053C>T p.P1018L Missense 11/20 - 2
1-27094346-T-A c.3054T>A p.P1018= Synonymous 11/20 - 1
1-27094346-T-C c.3054T>C p.P1018= Synonymous 11/20 - 2
1-27094346-T-G c.3054T>G p.P1018= Synonymous 11/20 - 1
1-27094347-G-A c.3055G>A p.E1019K Missense 11/20 - 4
1-27094347-GA-TG c.3055_3056delinsTG p.E1019W Missense 11/20 - 1
1-27094347-G-C c.3055G>C p.E1019Q Missense 11/20 - 6
1-27094347-G-T c.3055G>T p.E1019* Nonsense 11/20 - 4
1-27094349-G-A c.3057G>A p.E1019= Synonymous 11/20 - 6
1-27094350-AG-CA c.3058_3059delinsCA p.R1020Q Missense 11/20 - 1
1-27094350-AG-TA c.3058_3059delinsTA p.R1020* Nonsense 11/20 - 1
1-27094351-G-A c.3059G>A p.R1020K Missense 11/20 - 5
1-27094351-G-C c.3059G>C p.R1020T Missense 11/20 - 1
1-27094351-G-T c.3059G>T p.R1020M Missense 11/20 - 2
1-27094352-G-C c.3060G>C p.R1020S Missense 11/20 - 2
1-27094352-G-T c.3060G>T p.R1020S Missense 11/20 - 4
1-27094355-G-A c.3063G>A p.K1021= Synonymous 11/20 - 2
1-27094355-G-C c.3063G>C p.K1021N Missense 11/20 - 1
1-27094355-G-T c.3063G>T p.K1021N Missense 11/20 - 1
1-27094357-T-TG c.3066dup p.W1023Vfs*10 Frameshift 11/20 - 1
1-27094359-T-A c.3067T>A p.W1023R Missense 11/20 - 2
1-27094359-T-C c.3067T>C p.W1023R Missense 11/20 - 5
1-27094360-G-A c.3068G>A p.W1023* Nonsense 11/20 - 1
1-27094360-G-T c.3068G>T p.W1023L Missense 11/20 - 2
1-27094361-G-A c.3069G>A p.W1023* Nonsense 11/20 - 3
1-27094361-G-C c.3069G>C p.W1023C Missense 11/20 - 1
1-27094361-G-T c.3069G>T p.W1023C Missense 11/20 - 2
1-27094362-G-A c.3070G>A p.V1024M Missense 11/20 - 2
1-27094363-GTGGACCGTTATCTGGC-G c.3071_3086del p.V1024Afs*10 Frameshift 11/20 - 1
1-27094365-G-A c.3073G>A p.D1025N Missense 11/20 - 1
1-27094365-G-T c.3073G>T p.D1025Y Missense 11/20 - 1
1-27094366-A-G c.3074A>G p.D1025G Missense 11/20 - 1
1-27094366-A-T c.3074A>T p.D1025V Missense 11/20 - 2
1-27094368-C-T c.3076C>T p.R1026C Missense 11/20 - 4
1-27094369-G-A c.3077G>A p.R1026H Missense 11/20 - 2
1-27094370-T-G c.3078T>G p.R1026= Synonymous 11/20 - 1
1-27094371-T-C c.3079T>C p.Y1027H Missense 11/20 - 1
1-27094370-TTA-T c.3080_3081del p.Y1027Sfs*5 Frameshift 11/20 - 1
1-27094372-A-G c.3080A>G p.Y1027C Missense 11/20 - 6
1-27094372-A-T c.3080A>T p.Y1027F Missense 11/20 - 2
1-27094373-T-A c.3081T>A p.Y1027* Nonsense 11/20 - 2
1-27094373-T-C c.3081T>C p.Y1027= Synonymous 11/20 - 2
1-27094373-T-G c.3081T>G p.Y1027* Nonsense 11/20 - 2
1-27094374-C-G c.3082C>G p.L1028V Missense 11/20 - 6
1-27094374-C-T c.3082C>T p.L1028= Synonymous 11/20 - 4
1-27094376-G-A c.3084G>A p.L1028= Synonymous 11/20 - 3
1-27094376-G-C c.3084G>C p.L1028= Synonymous 11/20 - 4
1-27094376-G-T c.3084G>T p.L1028= Synonymous 11/20 - 3
1-27094375-TG-T c.3085del p.A1029Pfs*10 Frameshift 11/20 - 1
1-27094377-G-A c.3085G>A p.A1029T Missense 11/20 - 1
1-27094377-G-C c.3085G>C p.A1029P Missense 11/20 - 1
1-27094377-GCCTT-CC c.3085_3089delinsCC p.A1029_F1030delinsP MultiAAMissense 11/20 - 1
1-27094378-C-A c.3086C>A p.A1029D Missense 11/20 - 2
1-27094378-C-T c.3086C>T p.A1029V Missense 11/20 - 1
1-27094379-C-A c.3087C>A p.A1029= Synonymous 11/20 - 1
1-27094379-C-G c.3087C>G p.A1029= Synonymous 11/20 - 1
1-27094379-C-T c.3087C>T p.A1029= Synonymous 11/20 - 1
1-27094382-C-CT c.3090_3091insT p.T1031Yfs*2 Frameshift 11/20 - 2
1-27094382-C-T c.3090C>T p.F1030= Synonymous 11/20 - 1
1-27094383-A-C c.3091A>C p.T1031P Missense 11/20 - 1
1-27094383-A-G c.3091A>G p.T1031A Missense 11/20 - 2
1-27094384-C-T c.3092C>T p.T1031I Missense 11/20 - 3
1-27094385-T-A c.3093T>A p.T1031= Synonymous 11/20 - 2
1-27094386-G-A c.3094G>A p.E1032K Missense 11/20 - 3
1-27094386-G-C c.3094G>C p.E1032Q Missense 11/20 - 1
1-27094386-G-T c.3094G>T p.E1032* Nonsense 11/20 - 9
1-27094387-A-T c.3095A>T p.E1032V Missense 11/20 - 1
1-27094387-AG-A c.3097del p.E1033Rfs*6 Frameshift 11/20 - 2
1-27094389-G-A c.3097G>A p.E1033K Missense 11/20 - 2
1-27094390-A-T c.3098A>T p.E1033V Missense 11/20 - 1
1-27094391-G-A c.3099G>A p.E1033= Synonymous 11/20 - 1
1-27094394-G-T c.3102G>T p.K1034N Missense 11/20 - 1
1-27094395-G-A c.3103G>A p.A1035T Missense 11/20 - 1
1-27094396-C-T c.3104C>T p.A1035V Missense 11/20 - 2
1-27094398-A-G c.3106A>G p.M1036V Missense 11/20 - 3
1-27094399-T-C c.3107T>C p.M1036T Missense 11/20 - 1
1-27094401-G-C c.3109G>C p.G1037R Missense 11/20 - 4
1-27094401-G-T c.3109G>T p.G1037C Missense 11/20 - 1
1-27094402-G-A c.3110G>A p.G1037D Missense 11/20 - 1
1-27094402-G-T c.3110G>T p.G1037V Missense 11/20 - 1
1-27094404-A-G c.3112A>G p.M1038V Missense 11/20 - 2
1-27094406-G-A c.3114G>A p.M1038I Missense 11/20 - 1
1-27094406-G-C c.3114G>C p.M1038I Missense 11/20 - 1
1-27094406-G-T c.3114G>T p.M1038I Missense 11/20 - 1
1-27094407-A-C c.3115A>C p.T1039P Missense 11/20 - 1
1-27094408-C-G c.3116C>G p.T1039R Missense 11/20 - 1
1-27094408-C-T c.3116C>T p.T1039I Missense 11/20 - 1
1-27094408-CAA-C c.3118_3119del p.N1040Sfs*6 Frameshift 11/20 - 3
1-27094411-A-G c.3119A>G p.N1040S Missense 11/20 - 1
1-27094412-T-C c.3120T>C p.N1040= Synonymous 11/20 - 1
1-27094413-C-A c.3121C>A p.L1041M Missense 11/20 - 1
1-27094414-T-A c.3122T>A p.L1041Q Missense 11/20 - 1
1-27094416-C-G c.3124C>G p.P1042A Missense 11/20 - 1
1-27094415-G-GC c.3125dup p.A1043Cfs*4 Frameshift 11/20 - 1
1-27094417-C-T c.3125C>T p.P1042L Missense 11/20 - 1
1-27094420-C-T c.3128C>T p.A1043V Missense 11/20 - 2
1-27094420-C-CT c.3129dup p.V1044Cfs*3 Frameshift 11/20 - 1
1-27094422-G-A c.3130G>A p.V1044M Missense 11/20 - 1
1-27094423-T-C c.3131T>C p.V1044A Missense 11/20 - 1
1-27094426-G-A c.3134G>A p.G1045D Missense 11/20 - 1
1-27094426-G-GT c.3135dup p.R1046* Nonsense 11/20 - 1
1-27094427-T-G c.3135T>G p.G1045= Synonymous 11/20 - 1
1-27094429-G-A c.3137G>A p.R1046K Missense 11/20 - 5
1-27094430-G-GT c.3138_3139insT p.K1047* Nonsense 11/20 - 2
1-27094430-G-T c.3138G>T p.R1046S Missense 11/20 - 1
1-27094431-A-T c.3139A>T p.K1047* Nonsense 11/20 - 2
1-27094432-A-G c.3140A>G p.K1047R Missense 11/20 - 2
1-27094432-A-T c.3140A>T p.K1047I Missense 11/20 - 1
1-27094433-A-G c.3141A>G p.K1047= Synonymous 11/20 - 1
1-27094434-C-T c.3142C>T p.P1048S Missense 11/20 - 9
1-27094435-C-A c.3143C>A p.P1048H Missense 11/20 - 2
1-27094435-C-CAT c.3143_3144insAT p.L1049Ffs*11 Frameshift 11/20 - 1
1-27094437-C-G c.3145C>G p.L1049V Missense 11/20 - 3
1-27094432-AACCTCTGG-A c.3147_3154del p.D1050Sfs*52 Frameshift 11/20 - 2
1-27094439-G-GT c.3147_3148insT p.D1050* Nonsense 11/20 - 3
1-27094438-T-TG c.3148dup p.D1050Gfs*55 Frameshift 11/20 - 1
1-27094440-G-A c.3148G>A p.D1050N Missense 11/20 - 1
1-27094440-G-T c.3148G>T p.D1050Y Missense 11/20 - 2
1-27094441-A-G c.3149A>G p.D1050G Missense 11/20 - 4
1-27094442-C-A c.3150C>A p.D1050E Missense 11/20 - 3
1-27094443-C-G c.3151C>G p.L1051V Missense 11/20 - 1
1-27094444-T-G c.3152T>G p.L1051R Missense 11/20 - 5
1-27094445-C-CT c.3154dup p.Y1052Lfs*53 Frameshift 11/20 - 1
1-27094447-A-G c.3155A>G p.Y1052C Missense 11/20 - 1
1-27094447-A-AT c.3156dup p.R1053Sfs*52 Frameshift 11/20 - 1
1-27094448-T-A c.3156T>A p.Y1052* Nonsense 11/20 - 2
1-27094448-T-G c.3156T>G p.Y1052* Nonsense 11/20 - 2
1-27094449-C-T c.3157C>T p.R1053C Missense 11/20 - 5
1-27094450-G-A c.3158G>A p.R1053H Missense 11/20 - 11
1-27094452-C-T c.3160C>T p.L1054F Missense 11/20 - 1
1-27094454-C-CT c.3163dup p.Y1055Lfs*50 Frameshift 11/20 - 1
1-27094455-T-C c.3163T>C p.Y1055H Missense 11/20 - 1
1-27094454-CTA-C c.3164_3165del p.Y1055Cfs*49 Frameshift 11/20 - 4
1-27094455-T-TA c.3164dup p.Y1055* Nonsense 11/20 - 1
1-27094456-A-G c.3164A>G p.Y1055C Missense 11/20 - 1
1-27094457-T-A c.3165T>A p.Y1055* Nonsense 11/20 - 2
1-27094457-T-G c.3165T>G p.Y1055* Nonsense 11/20 - 2
1-27094461-T-A c.3169T>A p.S1057T Missense 11/20 - 1
1-27094461-T-C c.3169T>C p.S1057P Missense 11/20 - 1
1-27094462-C-T c.3170C>T p.S1057F Missense 11/20 - 1
1-27094462-CT-AA c.3170_3171delinsAA p.S1057* Nonsense 11/20 - 1
1-27094462-C-CT c.3171dup p.V1058Cfs*47 Frameshift 11/20 - 1
1-27094464-G-C c.3172G>C p.V1058L Missense 11/20 - 1
1-27094464-G-T c.3172G>T p.V1058L Missense 11/20 - 3
1-27094465-T-C c.3173T>C p.V1058A Missense 11/20 - 1
1-27094465-T-G c.3173T>G p.V1058G Missense 11/20 - 1
1-27094469-G-A c.3177G>A p.K1059= Synonymous 11/20 - 1
1-27094469-G-T c.3177G>T p.K1059N Missense 11/20 - 1
1-27094470-G-A c.3178G>A p.E1060K Missense 11/20 - 2
1-27094470-G-T c.3178G>T p.E1060* Nonsense 11/20 - 5
1-27094472-G-A c.3180G>A p.E1060= Synonymous 11/20 - 1
1-27094473-A-G c.3181A>G p.I1061V Missense 11/20 - 1
1-27094474-T-G c.3182T>G p.I1061S Missense 11/20 - 1
1-27094473-AT-A c.3183del p.I1061Mfs*4 Frameshift 11/20 - 1
1-27094477-G-A c.3185G>A p.G1062D Missense 11/20 - 2
1-27094477-G-T c.3185G>T p.G1062V Missense 11/20 - 3
1-27094477-G-GT c.3186dup p.G1063Wfs*42 Frameshift 11/20 - 3
1-27094479-G-A c.3187G>A p.G1063R Missense 11/20 - 1
1-27094479-G-C c.3187G>C p.G1063R Missense 11/20 - 1
1-27094479-G-T c.3187G>T p.G1063* Nonsense 11/20 - 1
1-27094480-G-A c.3188G>A p.G1063E Missense 11/20 - 2
1-27094480-G-T c.3188G>T p.G1063V Missense 11/20 - 4
1-27094484-G-C c.3192G>C p.L1064F Missense 11/20 - 1
1-27094484-G-T c.3192G>T p.L1064F Missense 11/20 - 1
1-27094485-A-AT c.3193_3194insT p.T1065Ifs*40 Frameshift 11/20 - 1
1-27094485-AC-GG c.3193_3194delinsGG p.T1065G Missense 11/20 - 1
1-27094485-A-G c.3193A>G p.T1065A Missense 11/20 - 1
1-27094486-C-T c.3194C>T p.T1065I Missense 11/20 - 2
1-27094485-ACT-A c.3195_3196del p.Q1066Gfs*38 Frameshift 11/20 - 1
1-27094488-C-G c.3196C>G p.Q1066E Missense 11/20 - 3
1-27094488-C-T c.3196C>T p.Q1066* Nonsense 11/20 - 9
1-27094489-A-G c.3197A>G p.Q1066R Missense 11/20 - 1
1-27094489-A-T c.3197A>T p.Q1066L Missense 11/20 - 1
1-27094490-G-C c.3198G>C p.Q1066H Missense 11/20 - 3
1-27094490-G-T c.3198G>T p.Q1066H Missense 11/20 - 1
1-27094491-G-T c.3198+1G>T - IntronicSNV - 11/19 1
1-27094501-G-A c.3198+11G>A - IntronicSNV - 11/19 1
1-27095125-G-T c.3198+635G>T - IntronicSNV - 11/19 1
1-27097393-C-CT c.3199-216dup - IntronicInsertion - 11/19 1
1-27097515-A-G c.3199-95A>G - IntronicSNV - 11/19 3
1-27097610-GTC-ATG c.3199_3201delinsATG p.V1067M Missense 12/20 - 1
1-27097611-T-C c.3200T>C p.V1067A Missense 12/20 - 1
1-27097611-T-G c.3200T>G p.V1067G Missense 12/20 - 2
1-27097612-C-G c.3201C>G p.V1067= Synonymous 12/20 - 1
1-27097613-A-G c.3202A>G p.N1068D Missense 12/20 - 1
1-27097612-C-CA c.3203dup p.N1068Kfs*37 Frameshift 12/20 - 2
1-27097615-C-A c.3204C>A p.N1068K Missense 12/20 - 2
1-27097615-C-G c.3204C>G p.N1068K Missense 12/20 - 2
1-27097617-A-G c.3206A>G p.K1069R Missense 12/20 - 2
1-27097618-G-GT c.3207_3208insT p.N1070* Nonsense 12/20 - 3
1-27097619-GAA-G c.3208_3209del p.N1070Qfs*34 Frameshift 12/20 - 1
1-27097621-C-CT c.3210_3211insT p.K1071* Nonsense 12/20 - 6
1-27097623-A-G c.3212A>G p.K1071R Missense 12/20 - 1
1-27097624-A-AT c.3213_3214insT p.K1072* Nonsense 12/20 - 6
1-27097624-A-G c.3213A>G p.K1071= Synonymous 12/20 - 2
1-27097621-CA-C c.3216del p.K1072Nfs*21 Frameshift 12/20 - 21
1-27097621-C-CA c.3216dup p.W1073Mfs*32 Frameshift 12/20 - 9
1-27097628-T-A c.3217T>A p.W1073R Missense 12/20 - 1
1-27097628-T-C c.3217T>C p.W1073R Missense 12/20 - 1
1-27097628-TG-GC c.3217_3218delinsGC p.W1073A Missense 12/20 - 1
1-27097628-T-TA c.3217_3218insA p.W1073* Nonsense 12/20 - 1
1-27097629-G-A c.3218G>A p.W1073* Nonsense 12/20 - 14
1-27097629-G-T c.3218G>T p.W1073L Missense 12/20 - 2
1-27097630-G-A c.3219G>A p.W1073* Nonsense 12/20 - 20
1-27097628-TG-T c.3219del p.W1073Cfs*20 Frameshift 12/20 - 1
1-27097631-C-T c.3220C>T p.R1074W Missense 12/20 - 9
1-27097632-G-A c.3221G>A p.R1074Q Missense 12/20 - 4
1-27097632-G-T c.3221G>T p.R1074L Missense 12/20 - 1
1-27097631-CGG-C c.3222_3223del p.E1075Tfs*29 Frameshift 12/20 - 1
1-27097631-CG-C c.3223del p.E1075Nfs*18 Frameshift 12/20 - 2
1-27097634-G-T c.3223G>T p.E1075* Nonsense 12/20 - 3
1-27097635-A-C c.3224A>C p.E1075A Missense 12/20 - 1
1-27097635-A-G c.3224A>G p.E1075G Missense 12/20 - 1
1-27097634-GA-G c.3225del p.E1075Dfs*18 Frameshift 12/20 - 1
1-27097637-C-A c.3226C>A p.L1076I Missense 12/20 - 1
1-27097638-T-C c.3227T>C p.L1076P Missense 12/20 - 1
1-27097637-C-CT c.3228dup p.A1077Cfs*28 Frameshift 12/20 - 1
1-27097639-T-TG c.3229dup p.A1077Gfs*28 Frameshift 12/20 - 4
1-27097641-C-A c.3230C>A p.A1077E Missense 12/20 - 4
1-27097643-A-G c.3232A>G p.T1078A Missense 12/20 - 1
1-27097638-T-TTGCAACCCACA c.3234_3235insCACATGCAACC p.N1079Hfs*18 Frameshift 12/20 - 1
1-27097645-C-A c.3234C>A p.T1078= Synonymous 12/20 - 1
1-27097645-C-G c.3234C>G p.T1078= Synonymous 12/20 - 1
1-27097645-C-T c.3234C>T p.T1078= Synonymous 12/20 - 1
1-27097647-A-G c.3236A>G p.N1079S Missense 12/20 - 1
1-27097647-A-T c.3236A>T p.N1079I Missense 12/20 - 3
1-27097650-T-G c.3239T>G p.L1080R Missense 12/20 - 2
1-27097651-C-A c.3240C>A p.L1080= Synonymous 12/20 - 1
1-27097651-C-G c.3240C>G p.L1080= Synonymous 12/20 - 1
1-27097651-C-T c.3240C>T p.L1080= Synonymous 12/20 - 1
1-27097652-A-C c.3241A>C p.N1081H Missense 12/20 - 1
1-27097653-A-G c.3242A>G p.N1081S Missense 12/20 - 3
1-27097655-G-A c.3244G>A p.V1082M Missense 12/20 - 1
1-27097658-G-C c.3247G>C p.G1083R Missense 12/20 - 1
1-27097658-G-T c.3247G>T p.G1083C Missense 12/20 - 7
1-27097659-G-A c.3248G>A p.G1083D Missense 12/20 - 1
1-27097659-GC-AG c.3248_3249delinsAG p.G1083E Missense 12/20 - 1
1-27097662-AC-A c.3251del p.T1084Nfs*9 Frameshift 12/20 - 1
1-27097663-A-C c.3252A>C p.T1084= Synonymous 12/20 - 1
1-27097663-A-G c.3252A>G p.T1084= Synonymous 12/20 - 1
1-27097663-A-T c.3252A>T p.T1084= Synonymous 12/20 - 1
1-27097665-C-A c.3254C>A p.S1085* Nonsense 12/20 - 13
1-27097665-C-G c.3254C>G p.S1085* Nonsense 12/20 - 18
1-27097665-C-T c.3254C>T p.S1085L Missense 12/20 - 1
1-27097665-TC-T c.3254del p.S1085* Frameshift 12/20 - 2
1-27097667-A-C c.3256A>C p.S1086R Missense 12/20 - 1
1-27097669-GC-G c.3258del p.S1086Rfs*7 Frameshift 12/20 - 1
1-27097670-AG-CC c.3259_3260delinsCC p.S1087P Missense 12/20 - 1
1-27097670-A-T c.3259A>T p.S1087C Missense 12/20 - 1
1-27097671-G-T c.3260G>T p.S1087I Missense 12/20 - 2
1-27097674-C-T c.3263C>T p.A1088V Missense 12/20 - 1
1-27097674-C-CT c.3264dup p.A1089Cfs*16 Frameshift 12/20 - 1
1-27097676-G-A c.3265G>A p.A1089T Missense 12/20 - 4
1-27097676-G-T c.3265G>T p.A1089S Missense 12/20 - 1
1-27097677-C-T c.3266C>T p.A1089V Missense 12/20 - 2
1-27097676-GC-G c.3267del p.S1090Afs*3 Frameshift 12/20 - 1
1-27097680-G-T c.3269G>T p.S1090I Missense 12/20 - 5
1-27097681-C-T c.3270C>T p.S1090= Synonymous 12/20 - 1
1-27097680-GCTC-G c.3272_3274del p.S1091del InFrameDeletion 12/20 - 1
1-27097683-C-T c.3272C>T p.S1091F Missense 12/20 - 1
1-27097685-T-C c.3274T>C p.L1092= Synonymous 12/20 - 1
1-27097685-TT-CC c.3274_3275delinsCC p.L1092P Missense 12/20 - 1
1-27097687-G-A c.3276G>A p.L1092= Synonymous 12/20 - 1
1-27097686-T-C c.3275T>C p.L1092S Missense 12/20 - 1
1-27097687-G-C c.3276G>C p.L1092F Missense 12/20 - 4
1-27097687-G-T c.3276G>T p.L1092F Missense 12/20 - 2
1-27097689-A-C c.3278A>C p.K1093T Missense 12/20 - 1
1-27097690-A-AT c.3279_3280insT p.K1094* Nonsense 12/20 - 2
1-27097691-A-G c.3280A>G p.K1094E Missense 12/20 - 1
1-27097687-GA-G c.3281del p.K1094Sfs*67 Frameshift 12/20 - 5
1-27097692-A-AG c.3282dup p.Q1095Afs*10 Frameshift 12/20 - 3
1-27097694-C-T c.3283C>T p.Q1095* Nonsense 12/20 - 14
1-27097697-TA-GC c.3286_3287delinsGC p.Y1096A Missense 12/20 - 1
1-27097697-T-C c.3286T>C p.Y1096H Missense 12/20 - 2
1-27097698-A-G c.3287A>G p.Y1096C Missense 12/20 - 1
1-27097698-A-AT c.3288dup p.I1097Yfs*8 Frameshift 12/20 - 1
1-27097699-T-A c.3288T>A p.Y1096* Nonsense 12/20 - 1
1-27097699-T-G c.3288T>G p.Y1096* Nonsense 12/20 - 1
1-27097703-C-A c.3292C>A p.Q1098K Missense 12/20 - 1
1-27097703-C-T c.3292C>T p.Q1098* Nonsense 12/20 - 9
1-27097704-A-G c.3293A>G p.Q1098R Missense 12/20 - 1
1-27097704-A-T c.3293A>T p.Q1098L Missense 12/20 - 1
1-27097704-CA-C c.3293del p.Q1098Rfs*63 Frameshift 12/20 - 1
1-27097705-G-T c.3294G>T p.Q1098H Missense 12/20 - 1
1-27097705-GTGTC-G c.3296_3299del p.C1099Sfs*61 Frameshift 12/20 - 1
1-27097706-T-TG c.3296dup p.C1099Wfs*6 Frameshift 12/20 - 1
1-27097709-C-G c.3298C>G p.L1100V Missense 12/20 - 1
1-27097709-C-T c.3298C>T p.L1100F Missense 12/20 - 3
1-27097710-T-C c.3299T>C p.L1100P Missense 12/20 - 1
1-27097710-T-G c.3299T>G p.L1100R Missense 12/20 - 1
1-27097707-GTC-G c.3300_3301del p.Y1101Cfs*3 Frameshift 12/20 - 1
1-27097711-C-CT c.3301dup p.Y1101Lfs*4 Frameshift 12/20 - 1
1-27097711-CTA-C c.3302_3303del p.Y1101Cfs*3 Frameshift 12/20 - 2
1-27097713-A-G c.3302A>G p.Y1101C Missense 12/20 - 3
1-27097714-T-A c.3303T>A p.Y1101* Nonsense 12/20 - 1
1-27097714-T-G c.3303T>G p.Y1101* Nonsense 12/20 - 1
1-27097715-G-A c.3304G>A p.A1102T Missense 12/20 - 1
1-27097717-C-A c.3306C>A p.A1102= Synonymous 12/20 - 1
1-27097717-C-G c.3306C>G p.A1102= Synonymous 12/20 - 1
1-27097717-C-T c.3306C>T p.A1102= Synonymous 12/20 - 1
1-27097719-T-C c.3308T>C p.F1103S Missense 12/20 - 2
1-27097720-T-C c.3309T>C p.F1103= Synonymous 12/20 - 1
1-27097721-G-A c.3310G>A p.E1104K Missense 12/20 - 3
1-27097721-G-C c.3310G>C p.E1104Q Missense 12/20 - 1
1-27097721-G-T c.3310G>T p.E1104* Nonsense 12/20 - 7
1-27097727-A-G c.3316A>G p.K1106E Missense 12/20 - 1
1-27097729-G-C c.3318G>C p.K1106N Missense 12/20 - 1
1-27097729-G-T c.3318G>T p.K1106N Missense 12/20 - 3
1-27097731-T-A c.3320T>A p.I1107N Missense 12/20 - 1
1-27097733-G-A c.3322G>A p.E1108K Missense 12/20 - 2
1-27097733-G-T c.3322G>T p.E1108* Nonsense 12/20 - 7
1-27097734-GAA-G c.3323_3324del p.E1108Afs*14 Frameshift 12/20 - 2
1-27097736-CG-TA c.3325_3326delinsTA p.R1109* Nonsense 12/20 - 1
1-27097736-C-T c.3325C>T p.R1109W Missense 12/20 - 6
1-27097734-AACGGGGAGAAG-A c.3326_3336del p.R1109Pfs*10 Frameshift 12/20 - 1
1-27097737-G-A c.3326G>A p.R1109Q Missense 12/20 - 6
1-27097737-G-T c.3326G>T p.R1109L Missense 12/20 - 2
1-27097740-G-A c.3329G>A p.G1110E Missense 12/20 - 2
1-27097742-G-A c.3331G>A p.E1111K Missense 12/20 - 5
1-27097743-A-G c.3332A>G p.E1111G Missense 12/20 - 3
1-27097744-A-G c.3333A>G p.E1111= Synonymous 12/20 - 2
1-27097745-G-A c.3334G>A p.D1112N Missense 12/20 - 3
1-27097746-A-G c.3335A>G p.D1112G Missense 12/20 - 1
1-27097749-C-A c.3338C>A p.P1113H Missense 12/20 - 1
1-27097751-C-A c.3340C>A p.P1114T Missense 12/20 - 1
1-27097754-C-G c.3343C>G p.P1115A Missense 12/20 - 2
1-27097754-C-T c.3343C>T p.P1115S Missense 12/20 - 3
1-27097750-TC-T c.3344del p.P1115Qfs*46 Frameshift 12/20 - 7
1-27097750-T-TC c.3344dup p.D1116Rfs*7 Frameshift 12/20 - 1
1-27097755-C-A c.3344C>A p.P1115Q Missense 12/20 - 1
1-27097755-C-G c.3344C>G p.P1115R Missense 12/20 - 1
1-27097757-AG-A c.3346del p.D1116Tfs*45 Frameshift 12/20 - 1
1-27097757-G-A c.3346G>A p.D1116N Missense 12/20 - 1
1-27097757-G-C c.3346G>C p.D1116H Missense 12/20 - 1
1-27097758-A-G c.3347A>G p.D1116G Missense 12/20 - 1
1-27097760-A-G c.3349A>G p.I1117V Missense 12/20 - 1
1-27097762-C-G c.3351C>G p.I1117M Missense 12/20 - 1
1-27097761-TCTTTGCAGCTG-T c.3353_3363del p.F1118* Frameshift 12/20 - 1
1-27097762-C-CT c.3354dup p.A1119Cfs*4 Frameshift 12/20 - 1
1-27097762-CT-C c.3354del p.F1118Lfs*43 Frameshift 12/20 - 1
1-27097765-T-TTG c.3354_3355insTG p.A1119Wfs*43 Frameshift 12/20 - 1
1-27097766-G-T c.3355G>T p.A1119S Missense 12/20 - 1
1-27097766-TG-T c.3355del p.A1119Qfs*42 Frameshift 12/20 - 2
1-27097767-C-T c.3356C>T p.A1119V Missense 12/20 - 2
1-27097768-A-C c.3357A>C p.A1119= Synonymous 12/20 - 1
1-27097768-A-G c.3357A>G p.A1119= Synonymous 12/20 - 2
1-27097768-A-T c.3357A>T p.A1119= Synonymous 12/20 - 1
1-27097768-CA-C c.3357del p.A1120Lfs*41 Frameshift 12/20 - 1
1-27097769-G-T c.3358G>T p.A1120S Missense 12/20 - 2
1-27097770-CT-AG c.3359_3360inv p.A1120E Missense 12/20 - 1
1-27097772-G-A c.3361G>A p.A1121T Missense 12/20 - 1
1-27097774-T-G c.3363T>G p.A1121= Synonymous 12/20 - 1
1-27097779-CC-AA c.3368_3369delinsAA p.S1123* Nonsense 12/20 - 1
1-27097779-C-G c.3368C>G p.S1123C Missense 12/20 - 1
1-27097779-C-T c.3368C>T p.S1123F Missense 12/20 - 6
1-27097781-A-T c.3370A>T p.K1124* Nonsense 12/20 - 1
1-27097782-A-C c.3371A>C p.K1124T Missense 12/20 - 1
1-27097783-G-A c.3372G>A p.K1124= Synonymous 12/20 - 1
1-27097783-G-C c.3372G>C p.K1124N Missense 12/20 - 2
1-27097783-G-T c.3372G>T p.K1124N Missense 12/20 - 1
1-27097784-AAG-GAC c.3373_3375delinsGAC p.K1125D Missense 12/20 - 1
1-27097786-G-C c.3375G>C p.K1125N Missense 12/20 - 2
1-27097786-G-T c.3375G>T p.K1125N Missense 12/20 - 2
1-27097788-CC-AA c.3377_3378delinsAA p.S1126* Nonsense 12/20 - 1
1-27097788-C-G c.3377C>G p.S1126C Missense 12/20 - 2
1-27097788-C-T c.3377C>T p.S1126F Missense 12/20 - 5
1-27097790-C-A c.3379C>A p.Q1127K Missense 12/20 - 1
1-27097790-C-T c.3379C>T p.Q1127* Nonsense 12/20 - 7
1-27097793-C-G c.3382C>G p.P1128A Missense 12/20 - 2
1-27097792-GC-G c.3384del p.K1129Rfs*32 Frameshift 12/20 - 1
1-27097796-A-T c.3385A>T p.K1129* Nonsense 12/20 - 4
1-27097795-CA-C c.3386del p.K1129Rfs*32 Frameshift 12/20 - 2
1-27097798-G-C c.3387G>C p.K1129N Missense 12/20 - 2
1-27097798-G-T c.3387G>T p.K1129N Missense 12/20 - 2
1-27097799-A-C c.3388A>C p.I1130L Missense 12/20 - 1
1-27097799-A-AT c.3389dup p.Q1131Pfs*62 Frameshift 12/20 - 1
1-27097800-ATCCAGCCTCC-A c.3389_3398del p.I1130Tfs*28 Frameshift 12/20 - 1
1-27097800-T-C c.3389T>C p.I1130T Missense 12/20 - 1
1-27097801-C-A c.3390C>A p.I1130= Synonymous 12/20 - 1
1-27097801-C-T c.3390C>T p.I1130= Synonymous 12/20 - 1
1-27097800-TC-T c.3391del p.Q1131Sfs*30 Frameshift 12/20 - 2
1-27097802-C-T c.3391C>T p.Q1131* Nonsense 12/20 - 15
1-27097804-G-GC c.3395dup p.P1133Sfs*60 Frameshift 12/20 - 1
1-27097806-C-T c.3395C>T p.P1132L Missense 12/20 - 1
1-27097808-C-A c.3397C>A p.P1133T Missense 12/20 - 1
1-27097808-C-CG c.3397_3398insG p.P1133Rfs*60 Frameshift 12/20 - 1
1-27097808-C-T c.3397C>T p.P1133S Missense 12/20 - 3
1-27097809-C-G c.3398C>G p.P1133R Missense 12/20 - 1
1-27097810-C-A c.3399C>A p.P1133= Synonymous 12/20 - 4
1-27097810-C-G c.3399C>G p.P1133= Synonymous 12/20 - 1
1-27097810-C-T c.3399C>T p.P1133= Synonymous 12/20 - 1
1-27097812-CT-AA c.3401_3402delinsAA p.S1134* Nonsense 12/20 - 1
1-27097812-TC-T c.3401del p.S1134Ffs*27 Frameshift 12/20 - 1
1-27097809-CCT-C c.3402_3403del p.P1135Cfs*57 Frameshift 12/20 - 1
1-27097813-T-A c.3402T>A p.S1134= Synonymous 12/20 - 1
1-27097813-T-C c.3402T>C p.S1134= Synonymous 12/20 - 1
1-27097813-T-G c.3402T>G p.S1134= Synonymous 12/20 - 1
1-27097814-C-A c.3403C>A p.P1135T Missense 12/20 - 1
1-27097814-C-T c.3403C>T p.P1135S Missense 12/20 - 1
1-27097815-CCT-C c.3404_3405del p.P1135Rfs*57 SpliceDonorDeletion 12/20 - 1
1-27097815-C-T c.3404C>T p.P1135L Missense 12/20 - 2
1-27097816-T-C c.3405T>C p.P1135= Synonymous 12/20 - 1
1-27097817-G-A c.3406G>A p.A1136T Missense 12/20 - 5
1-27097817-G-T c.3406G>T p.A1136S Missense 12/20 - 2
1-27097818-G-A c.3406+1G>A - IntronicSNV - 12/19 4
1-27097818-G-T c.3406+1G>T - IntronicSNV - 12/19 2
1-27097819-T-G c.3406+2T>G - IntronicSNV - 12/19 2
1-27098991-C-T c.3407C>T p.A1136V Missense 13/20 - 6
1-27098992-G-A c.3408G>A p.A1136= Synonymous 13/20 - 4
1-27098992-G-C c.3408G>C p.A1136= Synonymous 13/20 - 1
1-27098992-G-T c.3408G>T p.A1136= Synonymous 13/20 - 1
1-27098993-G-T c.3409G>T p.G1137* Nonsense 13/20 - 1
1-27098996-TC-AT c.3412_3413delinsAT p.S1138I Missense 13/20 - 1
1-27098997-C-A c.3413C>A p.S1138* Nonsense 13/20 - 3
1-27098997-C-G c.3413C>G p.S1138* Nonsense 13/20 - 2
1-27098997-C-T c.3413C>T p.S1138L Missense 13/20 - 2
1-27098998-CAGGA-C c.3414_3417del p.G1139Lfs*21 Frameshift 13/20 - 1
1-27099000-G-T c.3416G>T p.G1139V Missense 13/20 - 5
1-27099003-C-G c.3419C>G p.S1140C Missense 13/20 - 1
1-27099003-C-T c.3419C>T p.S1140F Missense 13/20 - 3
1-27099005-A-G c.3421A>G p.M1141V Missense 13/20 - 2
1-27099008-C-T c.3424C>T p.Q1142* Nonsense 13/20 - 15
1-27099011-G-A c.3427G>A p.G1143R Missense 13/20 - 2
1-27099012-G-A c.3428G>A p.G1143E Missense 13/20 - 1
1-27099012-GGGC-G c.3428_3430del p.G1143_P1144delinsA MultiAAMissense 13/20 - 1
1-27099009-AG-A c.3429del p.Q1145Rfs*16 Frameshift 13/20 - 4
1-27099013-G-A c.3429G>A p.G1143= Synonymous 13/20 - 2
1-27099013-G-C c.3429G>C p.G1143= Synonymous 13/20 - 2
1-27099013-G-T c.3429G>T p.G1143= Synonymous 13/20 - 2
1-27099014-C-A c.3430C>A p.P1144T Missense 13/20 - 1
1-27099014-C-T c.3430C>T p.P1144S Missense 13/20 - 5
1-27099013-GC-G c.3433del p.Q1145Rfs*16 Frameshift 13/20 - 1
1-27099017-C-T c.3433C>T p.Q1145* Nonsense 13/20 - 3
1-27099019-G-A c.3435G>A p.Q1145= Synonymous 13/20 - 1
1-27099019-G-C c.3435G>C p.Q1145H Missense 13/20 - 1
1-27099019-G-T c.3435G>T p.Q1145H Missense 13/20 - 1
1-27099019-G-GA c.3436dup p.T1146Nfs*47 Frameshift 13/20 - 1
1-27099020-A-G c.3436A>G p.T1146A Missense 13/20 - 2
1-27099021-C-G c.3437C>G p.T1146S Missense 13/20 - 1
1-27099023-C-T c.3439C>T p.P1147S Missense 13/20 - 1
1-27099024-C-T c.3440C>T p.P1147L Missense 13/20 - 8
1-27099025-C-T c.3441C>T p.P1147= Synonymous 13/20 - 1
1-27099022-TC-T c.3442del p.Q1148Sfs*13 Frameshift 13/20 - 2
1-27099026-C-T c.3442C>T p.Q1148* Nonsense 13/20 - 2
1-27099029-T-C c.3445T>C p.S1149P Missense 13/20 - 1
1-27099030-C-A c.3446C>A p.S1149* Nonsense 13/20 - 2
1-27099030-C-G c.3446C>G p.S1149* Nonsense 13/20 - 5
1-27099030-C-T c.3446C>T p.S1149L Missense 13/20 - 1
1-27099030-CA-C c.3448del p.T1150Pfs*11 Frameshift 13/20 - 4
1-27099030-C-CA c.3448dup p.T1150Nfs*43 Frameshift 13/20 - 1
1-27099032-A-G c.3448A>G p.T1150A Missense 13/20 - 1
1-27099032-A-T c.3448A>T p.T1150S Missense 13/20 - 1
1-27099033-C-A c.3449C>A p.T1150N Missense 13/20 - 1
1-27099033-C-G c.3449C>G p.T1150S Missense 13/20 - 2
1-27099035-A-T c.3451A>T p.S1151C Missense 13/20 - 1
1-27099035-CA-C c.3451del p.S1151Afs*10 Frameshift 13/20 - 1
1-27099036-G-A c.3452G>A p.S1151N Missense 13/20 - 2
1-27099036-G-T c.3452G>T p.S1151I Missense 13/20 - 1
1-27099037-GC-G c.3453del p.S1151Rfs*10 Frameshift 13/20 - 1
1-27099037-C-CA c.3454dup p.S1152Kfs*41 Frameshift 13/20 - 1
1-27099038-AG-CC c.3454_3455delinsCC p.S1152P Missense 13/20 - 1
1-27099038-CA-C c.3454del p.S1152Vfs*9 Frameshift 13/20 - 1
1-27099039-G-A c.3455G>A p.S1152N Missense 13/20 - 1
1-27099040-T-C c.3456T>C p.S1152= Synonymous 13/20 - 1
1-27099042-C-G c.3458C>G p.S1153C Missense 13/20 - 1
1-27099041-TC-T c.3459del p.M1154Wfs*7 Frameshift 13/20 - 2
1-27099044-A-G c.3460A>G p.M1154V Missense 13/20 - 1
1-27099044-CA-C c.3460del p.M1154Wfs*7 Frameshift 13/20 - 2
1-27099045-AT-A c.3461del p.M1154Rfs*7 Frameshift 13/20 - 2
1-27099045-T-C c.3461T>C p.M1154T Missense 13/20 - 5
1-27099046-G-A c.3462G>A p.M1154I Missense 13/20 - 1
1-27099046-G-C c.3462G>C p.M1154I Missense 13/20 - 1
1-27099046-G-T c.3462G>T p.M1154I Missense 13/20 - 1
1-27099048-C-A c.3464C>A p.A1155E Missense 13/20 - 1
1-27099048-C-T c.3464C>T p.A1155V Missense 13/20 - 1
1-27099050-G-A c.3466G>A p.E1156K Missense 13/20 - 1
1-27099050-G-T c.3466G>T p.E1156* Nonsense 13/20 - 1
1-27099051-A-G c.3467A>G p.E1156G Missense 13/20 - 1
1-27099050-G-GA c.3468dup p.G1157Rfs*36 Frameshift 13/20 - 1
1-27099053-GGA-AGC c.3469_3471delinsAGC p.G1157S Missense 13/20 - 1
1-27099053-G-T c.3469G>T p.G1157* Nonsense 13/20 - 5
1-27099054-G-A c.3470G>A p.G1157E Missense 13/20 - 2
1-27099055-A-T c.3471A>T p.G1157= Synonymous 13/20 - 1
1-27099056-G-A c.3472G>A p.G1158R Missense 13/20 - 4
1-27099056-G-C c.3472G>C p.G1158R Missense 13/20 - 3
1-27099051-AAGG-A c.3473_3475del p.G1158del InFrameDeletion 13/20 - 3
1-27099057-G-A c.3473G>A p.G1158E Missense 13/20 - 1
1-27099059-G-A c.3475G>A p.D1159N Missense 13/20 - 3
1-27099059-G-C c.3475G>C p.D1159H Missense 13/20 - 1
1-27099059-G-T c.3475G>T p.D1159Y Missense 13/20 - 2
1-27099061-C-G c.3477C>G p.D1159E Missense 13/20 - 2
1-27099061-C-T c.3477C>T p.D1159= Synonymous 13/20 - 3
1-27099061-C-CT c.3479dup p.L1160Ffs*33 Frameshift 13/20 - 1
1-27099063-T-A c.3479T>A p.L1160* Nonsense 13/20 - 3
1-27099063-T-C c.3479T>C p.L1160S Missense 13/20 - 1
1-27099063-T-G c.3479T>G p.L1160* Nonsense 13/20 - 3
1-27099065-AAAG-A c.3481_3483del p.K1161del InFrameDeletion 13/20 - 1
1-27099063-TA-T c.3482del p.K1161Sfs*19 Frameshift 13/20 - 2
1-27099063-T-TA c.3482dup p.P1162Afs*31 Frameshift 13/20 - 1
1-27099066-A-C c.3482A>C p.K1161T Missense 13/20 - 1
1-27099068-C-A c.3484C>A p.P1162T Missense 13/20 - 2
1-27099068-C-T c.3484C>T p.P1162S Missense 13/20 - 1
1-27099069-C-G c.3485C>G p.P1162R Missense 13/20 - 1
1-27099071-ACC-A c.3487_3488del p.P1163Nfs*29 Frameshift 13/20 - 1
1-27099072-C-T c.3488C>T p.P1163L Missense 13/20 - 1
1-27099075-C-T c.3491C>T p.T1164I Missense 13/20 - 1
1-27099075-CT-TG c.3491_3492delinsTG p.T1164M Missense 13/20 - 1
1-27099077-C-T c.3493C>T p.P1165S Missense 13/20 - 1
1-27099078-C-T c.3494C>T p.P1165L Missense 13/20 - 1
1-27099080-GCA-TGT c.3496_3498delinsTGT p.A1166C Missense 13/20 - 1
1-27099080-G-T c.3496G>T p.A1166S Missense 13/20 - 1
1-27099081-C-T c.3497C>T p.A1166V Missense 13/20 - 1
1-27099083-TC-CT c.3499_3500delinsCT p.S1167L Missense 13/20 - 1
1-27099083-T-G c.3499T>G p.S1167A Missense 13/20 - 2
1-27099084-C-T c.3500C>T p.S1167F Missense 13/20 - 1
1-27099090-C-T c.3506C>T p.P1169L Missense 13/20 - 1
1-27099091-A-AAG c.3507_3508insAG p.H1170Sfs*11 Frameshift 13/20 - 1
1-27099089-CCACA-C c.3508_3511del p.H1170Vfs*9 Frameshift 13/20 - 1
1-27099092-C-T c.3508C>T p.H1170Y Missense 13/20 - 1
1-27099093-A-C c.3509A>C p.H1170P Missense 13/20 - 1
1-27099089-CCA-C c.3510_3511del p.H1170Qfs*22 Frameshift 13/20 - 1
1-27099096-G-A c.3512G>A p.S1171N Missense 13/20 - 1
1-27099093-ACAGT-A c.3513_3516del p.S1171Rfs*8 Frameshift 13/20 - 1
1-27099098-CA-GC c.3514_3515delinsGC p.Q1172A Missense 13/20 - 1
1-27099098-C-T c.3514C>T p.Q1172* Nonsense 13/20 - 11
1-27099099-CA-C c.3515del p.Q1172Rfs*8 Frameshift 13/20 - 1
1-27099101-A-T c.3517A>T p.I1173F Missense 13/20 - 2
1-27099101-A-AT c.3518dup p.L1176Ifs*17 Frameshift 13/20 - 1
1-27099104-C-T c.3520C>T p.P1174S Missense 13/20 - 2
1-27099105-C-T c.3521C>T p.P1174L Missense 13/20 - 2
1-27099102-TC-T c.3524del p.P1175Hfs*5 Frameshift 13/20 - 8
1-27099102-T-TC c.3524dup p.L1176Ifs*17 Frameshift 13/20 - 5
1-27099108-C-A c.3524C>A p.P1175Q Missense 13/20 - 2
1-27099108-C-T c.3524C>T p.P1175L Missense 13/20 - 4
1-27099108-C-CA c.3525dup p.L1176Ifs*17 Frameshift 13/20 - 5
1-27099109-A-G c.3525A>G p.P1175= Synonymous 13/20 - 2
1-27099109-AT-A c.3527del p.L1176Cfs*4 Frameshift 13/20 - 1
1-27099111-T-A c.3527T>A p.L1176* Nonsense 13/20 - 1
1-27099111-T-C c.3527T>C p.L1176S Missense 13/20 - 2
1-27099113-C-A c.3529C>A p.P1177T Missense 13/20 - 1
1-27099113-C-G c.3529C>G p.P1177A Missense 13/20 - 1
1-27099116-G-A c.3532G>A p.G1178S Missense 13/20 - 1
1-27099117-G-A c.3533G>A p.G1178D Missense 13/20 - 1
1-27099117-G-C c.3533G>C p.G1178A Missense 13/20 - 1
1-27099118-C-A c.3534C>A p.G1178= Synonymous 13/20 - 1
1-27099118-C-G c.3534C>G p.G1178= Synonymous 13/20 - 1
1-27099118-C-T c.3534C>T p.G1178= Synonymous 13/20 - 1
1-27099120-ATGAGGTAAGGCCAAGAGCAGGGGCAGATGGTTGGGAGGATGGCTGAAGATAAGTGCATG-A c.3536_3539+55del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 13/20 13/19 1
1-27099121-G-A c.3537G>A p.M1179I Missense 13/20 - 2
1-27099121-G-C c.3537G>C p.M1179I Missense 13/20 - 2
1-27099121-G-T c.3537G>T p.M1179I Missense 13/20 - 3
1-27099122-A-T c.3538A>T p.S1180C Missense 13/20 - 1
1-27099123-G-A c.3539G>A p.S1180N Missense 13/20 - 2
1-27099124-G-A c.3539+1G>A - IntronicSNV - 13/19 7
1-27099124-G-C c.3539+1G>C - IntronicSNV - 13/19 1
1-27099124-G-T c.3539+1G>T - IntronicSNV - 13/19 1
1-27099122-A-C c.3538A>C p.S1180R Missense 13/20 - 2
1-27099303-C-A c.3540C>A p.S1180R Missense 14/20 - 2
1-27099303-C-G c.3540C>G p.S1180R Missense 14/20 - 2
1-27099303-C-T c.3540C>T p.S1180= Synonymous 14/20 - 1
1-27099304-A-G c.3541A>G p.R1181G Missense 14/20 - 1
1-27099304-AG-CA c.3541_3542delinsCA p.R1181Q Missense 14/20 - 1
1-27099304-A-T c.3541A>T p.R1181W Missense 14/20 - 1
1-27099306-G-C c.3543G>C p.R1181S Missense 14/20 - 3
1-27099306-G-T c.3543G>T p.R1181S Missense 14/20 - 2
1-27099307-A-G c.3544A>G p.S1182G Missense 14/20 - 1
1-27099307-A-AG c.3545dup p.S1182Rfs*11 Frameshift 14/20 - 1
1-27099308-G-A c.3545G>A p.S1182N Missense 14/20 - 1
1-27099307-A-C c.3544A>C p.S1182R Missense 14/20 - 1
1-27099309-C-A c.3546C>A p.S1182R Missense 14/20 - 1
1-27099309-C-G c.3546C>G p.S1182R Missense 14/20 - 1
1-27099309-C-T c.3546C>T p.S1182= Synonymous 14/20 - 1
1-27099309-GC-G c.3546del p.S1182Rfs*24 Frameshift 14/20 - 3
1-27099311-A-C c.3548A>C p.N1183T Missense 14/20 - 2
1-27099311-A-T c.3548A>T p.N1183I Missense 14/20 - 2
1-27099314-C-A c.3551C>A p.S1184* Nonsense 14/20 - 6
1-27099314-CA-TT c.3551_3552delinsTT p.S1184F Missense 14/20 - 1
1-27099314-C-G c.3551C>G p.S1184* Nonsense 14/20 - 4
1-27099314-C-T c.3551C>T p.S1184L Missense 14/20 - 5
1-27099314-C-CA c.3552dup p.V1185Sfs*8 Frameshift 14/20 - 1
1-27099315-A-C c.3552A>C p.S1184= Synonymous 14/20 - 2
1-27099315-A-G c.3552A>G p.S1184= Synonymous 14/20 - 2
1-27099315-A-T c.3552A>T p.S1184= Synonymous 14/20 - 2
1-27099316-G-T c.3553G>T p.V1185F Missense 14/20 - 1
1-27099315-AGTTGG-A c.3554_3558del p.V1185Dfs*6 Frameshift 14/20 - 1
1-27099321-G-A c.3558G>A p.G1186= Synonymous 14/20 - 2
1-27099321-G-C c.3558G>C p.G1186= Synonymous 14/20 - 2
1-27099321-G-T c.3558G>T p.G1186= Synonymous 14/20 - 2
1-27099322-GA-G c.3559del p.I1187Sfs*19 Frameshift 14/20 - 1
1-27099323-T-C c.3560T>C p.I1187T Missense 14/20 - 1
1-27099325-C-A c.3562C>A p.Q1188K Missense 14/20 - 1
1-27099325-C-T c.3562C>T p.Q1188* Nonsense 14/20 - 10
1-27099327-G-C c.3564G>C p.Q1188H Missense 14/20 - 2
1-27099327-G-T c.3564G>T p.Q1188H Missense 14/20 - 2
1-27099328-G-A c.3565G>A p.D1189N Missense 14/20 - 3
1-27099330-T-C c.3567T>C p.D1189= Synonymous 14/20 - 2
1-27099333-CT-C c.3573del p.F1191Lfs*15 Frameshift 14/20 - 1
1-27099337-AA-CC c.3574_3575delinsCC p.N1192P Missense 14/20 - 1
1-27099336-TA-T c.3575del p.N1192Mfs*14 Frameshift 14/20 - 1
1-27099340-G-A c.3577G>A p.D1193N Missense 14/20 - 2
1-27099340-G-C c.3577G>C p.D1193H Missense 14/20 - 1
1-27099342-T-A c.3579T>A p.D1193E Missense 14/20 - 2
1-27099342-T-C c.3579T>C p.D1193= Synonymous 14/20 - 1
1-27099343-G-T c.3580G>T p.G1194* Nonsense 14/20 - 3
1-27099344-G-A c.3581G>A p.G1194E Missense 14/20 - 1
1-27099346-A-G c.3583A>G p.S1195G Missense 14/20 - 2
1-27099346-AG-CC c.3583_3584delinsCC p.S1195P Missense 14/20 - 1
1-27099347-G-GT c.3585dup p.D1196* Nonsense 14/20 - 1
1-27099348-GT-G c.3585del p.S1195Rfs*11 Frameshift 14/20 - 1
1-27099348-T-G c.3585T>G p.S1195R Missense 14/20 - 1
1-27099349-G-A c.3586G>A p.D1196N Missense 14/20 - 1
1-27099351-C-T c.3588C>T p.D1196= Synonymous 14/20 - 1
1-27099352-T-C c.3589T>C p.S1197P Missense 14/20 - 6
1-27099353-C-A c.3590C>A p.S1197Y Missense 14/20 - 1
1-27099353-C-G c.3590C>G p.S1197C Missense 14/20 - 6
1-27099353-C-T c.3590C>T p.S1197F Missense 14/20 - 2
1-27099355-A-T c.3592A>T p.T1198S Missense 14/20 - 1
1-27099360-CC-TT c.3597_3598delinsTT p.Q1200* Missense 14/20 - 1
1-27099360-C-G c.3597C>G p.F1199L Missense 14/20 - 2
1-27099360-C-T c.3597C>T p.F1199= Synonymous 14/20 - 3
1-27099361-C-T c.3598C>T p.Q1200* Nonsense 14/20 - 15
1-27099362-A-T c.3599A>T p.Q1200L Missense 14/20 - 1
1-27099364-A-T c.3601A>T p.K1201* Nonsense 14/20 - 1
1-27099365-A-G c.3602A>G p.K1201R Missense 14/20 - 1
1-27099366-G-A c.3603G>A p.K1201= Synonymous 14/20 - 1
1-27099367-C-T c.3604C>T p.R1202W Missense 14/20 - 4
1-27099368-G-A c.3605G>A p.R1202Q Missense 14/20 - 8
1-27099367-CG-C c.3606del p.N1203Ifs*3 Frameshift 14/20 - 1
1-27099369-G-GT c.3606_3607insT p.N1203* Nonsense 14/20 - 1
1-27099370-A-T c.3607A>T p.N1203Y Missense 14/20 - 4
1-27099371-A-T c.3608A>T p.N1203I Missense 14/20 - 1
1-27099376-A-G c.3613A>G p.M1205V Missense 14/20 - 2
1-27099378-G-A c.3615G>A p.M1205I Missense 14/20 - 1
1-27099383-CCA-C c.3620_3621del p.P1207Qfs*12 Frameshift 14/20 - 1
1-27099383-C-T c.3620C>T p.P1207L Missense 14/20 - 3
1-27099383-C-CA c.3623dup p.N1208Kfs*12 Frameshift 14/20 - 1
1-27099386-A-C c.3623A>C p.N1208T Missense 14/20 - 1
1-27099387-C-A c.3624C>A p.N1208K Missense 14/20 - 1
1-27099387-C-G c.3624C>G p.N1208K Missense 14/20 - 1
1-27099388-C-T c.3625C>T p.P1209S Missense 14/20 - 1
1-27099389-C-T c.3626C>T p.P1209L Missense 14/20 - 1
1-27099391-G-A c.3628G>A p.G1210R Missense 14/20 - 1
1-27099391-G-C c.3628G>C p.G1210R Missense 14/20 - 1
1-27099392-G-T c.3629G>T p.G1210V Missense 14/20 - 1
1-27099390-TG-T c.3630del p.Y1211Ifs*5 Frameshift 14/20 - 1
1-27099394-T-C c.3631T>C p.Y1211H Missense 14/20 - 2
1-27099395-A-G c.3632A>G p.Y1211C Missense 14/20 - 1
1-27099396-T-A c.3633T>A p.Y1211* Nonsense 14/20 - 3
1-27099396-T-C c.3633T>C p.Y1211= Synonymous 14/20 - 1
1-27099396-T-G c.3633T>G p.Y1211* Nonsense 14/20 - 3
1-27099392-GGTATCAGCCCA-G c.3634_3644del p.Q1212Efs*4 Frameshift 14/20 - 1
1-27099397-C-T c.3634C>T p.Q1212* Nonsense 14/20 - 27
1-27099398-A-C c.3635A>C p.Q1212P Missense 14/20 - 1
1-27099398-A-T c.3635A>T p.Q1212L Missense 14/20 - 1
1-27099400-C-G c.3637C>G p.P1213A Missense 14/20 - 1
1-27099403-A-G c.3640A>G p.S1214G Missense 14/20 - 1
1-27099403-A-T c.3640A>T p.S1214C Missense 14/20 - 1
1-27099404-G-C c.3641G>C p.S1214T Missense 14/20 - 1
1-27099404-G-T c.3641G>T p.S1214I Missense 14/20 - 1
1-27099406-A-C c.3643A>C p.M1215L Missense 14/20 - 1
1-27099406-A-G c.3643A>G p.M1215V Missense 14/20 - 2
1-27099407-T-C c.3644T>C p.M1215T Missense 14/20 - 2
1-27099408-G-A c.3645G>A p.M1215I Missense 14/20 - 7
1-27099408-G-C c.3645G>C p.M1215I Missense 14/20 - 2
1-27099408-G-T c.3645G>T p.M1215I Missense 14/20 - 3
1-27099406-ATGAATACCTC-A c.3647_3656del p.N1216Tfs*2 Frameshift 14/20 - 1
1-27099408-GA-G c.3647del p.N1216Ifs*5 Frameshift 14/20 - 1
1-27099410-A-T c.3647A>T p.N1216I Missense 14/20 - 2
1-27099412-A-G c.3649A>G p.T1217A Missense 14/20 - 1
1-27099415-T-A c.3652T>A p.S1218T Missense 14/20 - 1
1-27099416-C-G c.3653C>G p.S1218C Missense 14/20 - 1
1-27099418-G-A c.3655G>A p.D1219N Missense 14/20 - 1
1-27099418-GAC-TAA c.3655_3657delinsTAA p.D1219* Nonsense 14/20 - 1
1-27099418-G-T c.3655G>T p.D1219Y Missense 14/20 - 2
1-27099421-A-G c.3658A>G p.M1220V Missense 14/20 - 1
1-27099419-ACATGATGGGGCGCATGTCCTATGAGC-A c.3659_3684del p.M1220Kfs*2 Frameshift 14/20 - 1
1-27099422-T-C c.3659T>C p.M1220T Missense 14/20 - 2
1-27099423-G-A c.3660G>A p.M1220I Missense 14/20 - 3
1-27099423-G-C c.3660G>C p.M1220I Missense 14/20 - 2
1-27099423-G-T c.3660G>T p.M1220I Missense 14/20 - 2
1-27099425-T-C c.3662T>C p.M1221T Missense 14/20 - 4
1-27099425-T-G c.3662T>G p.M1221R Missense 14/20 - 1
1-27099426-G-A c.3663G>A p.M1221I Missense 14/20 - 1
1-27099426-G-C c.3663G>C p.M1221I Missense 14/20 - 1
1-27099426-G-T c.3663G>T p.M1221I Missense 14/20 - 1
1-27099428-G-A c.3665G>A p.G1222E Missense 14/20 - 1
1-27099428-G-T c.3665G>T p.G1222V Missense 14/20 - 1
1-27099429-G-GT c.3666_3667insT p.R1223Sfs*5 Frameshift 14/20 - 1
1-27099429-G-T c.3666G>T p.G1222= Synonymous 14/20 - 2
1-27099430-C-A c.3667C>A p.R1223S Missense 14/20 - 1
1-27099430-C-T c.3667C>T p.R1223C Missense 14/20 - 13
1-27099431-G-A c.3668G>A p.R1223H Missense 14/20 - 8
1-27099433-A-C c.3670A>C p.M1224L Missense 14/20 - 1
1-27099433-A-G c.3670A>G p.M1224V Missense 14/20 - 1
1-27099433-CA-C c.3670del p.M1224Cfs*13 Frameshift 14/20 - 2
1-27099436-TC-CG c.3673_3674delinsCG p.S1225R Missense 14/20 - 1
1-27099437-C-G c.3674C>G p.S1225C Missense 14/20 - 2
1-27099437-C-T c.3674C>T p.S1225F Missense 14/20 - 1
1-27099440-A-G c.3677A>G p.Y1226C Missense 14/20 - 8
1-27099440-A-AT c.3678dup p.E1227* Nonsense 14/20 - 1
1-27099442-G-T c.3679G>T p.E1227* Nonsense 14/20 - 3
1-27099445-C-T c.3682C>T p.P1228S Missense 14/20 - 1
1-27099446-C-A c.3683C>A p.P1228Q Missense 14/20 - 2
1-27099448-A-G c.3685A>G p.N1229D Missense 14/20 - 1
1-27099451-A-G c.3688A>G p.K1230E Missense 14/20 - 1
1-27099449-ATAAGGATCCT-A c.3689_3698del p.K1230Mfs*4 Frameshift 14/20 - 1
1-27099454-G-A c.3691G>A p.D1231N Missense 14/20 - 2
1-27099454-GAT-TAA c.3691_3693delinsTAA p.D1231* Nonsense 14/20 - 1
1-27099456-T-A c.3693T>A p.D1231E Missense 14/20 - 1
1-27099456-T-G c.3693T>G p.D1231E Missense 14/20 - 1
1-27099457-C-G c.3694C>G p.P1232A Missense 14/20 - 1
1-27099457-C-T c.3694C>T p.P1232S Missense 14/20 - 3
1-27099459-T-C c.3696T>C p.P1232= Synonymous 14/20 - 2
1-27099460-T-C c.3697T>C p.Y1233H Missense 14/20 - 1
1-27099460-T-TA c.3698dup p.Y1233* Nonsense 14/20 - 1
1-27099461-A-C c.3698A>C p.Y1233S Missense 14/20 - 1
1-27099461-A-T c.3698A>T p.Y1233F Missense 14/20 - 1
1-27099462-T-A c.3699T>A p.Y1233* Nonsense 14/20 - 2
1-27099462-T-C c.3699T>C p.Y1233= Synonymous 14/20 - 2
1-27099462-T-G c.3699T>G p.Y1233* Nonsense 14/20 - 3
1-27099463-G-C c.3700G>C p.G1234R Missense 14/20 - 1
1-27099463-G-GTA c.3700_3701insTA p.G1234Vfs*4 Frameshift 14/20 - 1
1-27099464-G-A c.3701G>A p.G1234D Missense 14/20 - 2
1-27099464-G-T c.3701G>T p.G1234V Missense 14/20 - 1
1-27099466-AGC-TGA c.3703_3705delinsTGA p.S1235* Nonsense 14/20 - 1
1-27099466-A-AG c.3704dup p.S1235Rfs*9 Frameshift 14/20 - 1
1-27099466-A-C c.3703A>C p.S1235R Missense 14/20 - 1
1-27099468-C-A c.3705C>A p.S1235R Missense 14/20 - 1
1-27099468-C-G c.3705C>G p.S1235R Missense 14/20 - 1
1-27099470-T-A c.3707T>A p.M1236K Missense 14/20 - 1
1-27099471-G-A c.3708G>A p.M1236I Missense 14/20 - 6
1-27099471-G-C c.3708G>C p.M1236I Missense 14/20 - 1
1-27099471-G-T c.3708G>T p.M1236I Missense 14/20 - 1
1-27099470-TGA-T c.3709_3710del p.R1237Efs*6 Frameshift 14/20 - 1
1-27099472-AG-TA c.3709_3710delinsTA p.R1237* Nonsense 14/20 - 1
1-27099472-A-T c.3709A>T p.R1237W Missense 14/20 - 1
1-27099473-G-A c.3710G>A p.R1237K Missense 14/20 - 2
1-27099473-G-T c.3710G>T p.R1237M Missense 14/20 - 2
1-27099472-A-C c.3709A>C p.R1237= Synonymous 14/20 - 1
1-27099474-G-A c.3711G>A p.R1237= Synonymous 14/20 - 1
1-27099474-G-GT c.3711_3712insT p.K1238* Nonsense 14/20 - 1
1-27099475-A-T c.3712A>T p.K1238* Nonsense 14/20 - 1
1-27099474-G-GA c.3714dup p.A1239Sfs*5 SpliceDonorInsertion 14/20 - 1
1-27099477-A-AC c.3714_3715insC p.A1239Rfs*5 SpliceDonorInsertion 14/20 - 1
1-27099477-A-AT c.3714_3715insT p.A1239Cfs*5 SpliceDonorInsertion 14/20 - 1
1-27099478-G-A c.3715G>A p.A1239T Missense 14/20 - 18
1-27099478-G-T c.3715G>T p.A1239S Missense 14/20 - 1
1-27099474-GAAAGGTGACTGATCTGATTGCTATTTGAACTTGTGCTCGT-G c.3715+1_3715+40del - SpliceDonorDeletion - 14/19 1
1-27099479-G-A c.3715+1G>A - IntronicSNV - 14/19 2
1-27099479-G-T c.3715+1G>T - IntronicSNV - 14/19 4
1-27099480-T-G c.3715+2T>G - IntronicSNV - 14/19 1
1-27099481-G-A c.3715+3G>A - IntronicSNV - 14/19 1
1-27099517-A-C c.3715+39A>C - IntronicSNV - 14/19 1
1-27099550-G-T c.3715+72G>T - IntronicSNV - 14/19 1
1-27099830-C-G c.3716-7C>G - IntronicSNV - 14/19 2
1-27099830-C-T c.3716-7C>T - IntronicSNV - 14/19 2
1-27099831-G-A c.3716-6G>A - IntronicSNV - 14/19 1
1-27099837-C-A c.3716C>A p.A1239D Missense 15/20 - 1
1-27099837-C-T c.3716C>T p.A1239V Missense 15/20 - 2
1-27099837-GC-G c.3716del p.A1239Vfs*30 Frameshift 15/20 - 1
1-27099838-T-G c.3717T>G p.A1239= Synonymous 15/20 - 1
1-27099839-C-T c.3718C>T p.P1240S Missense 15/20 - 1
1-27099840-C-T c.3719C>T p.P1240L Missense 15/20 - 2
1-27099842-G-A c.3721G>A p.G1241R Missense 15/20 - 2
1-27099843-G-C c.3722G>C p.G1241A Missense 15/20 - 1
1-27099845-A-G c.3724A>G p.S1242G Missense 15/20 - 1
1-27099845-AG-TT c.3724_3725delinsTT p.S1242F Missense 15/20 - 1
1-27099846-G-T c.3725G>T p.S1242I Missense 15/20 - 1
1-27099845-AGT-A c.3726_3727del p.S1242Rfs*16 Frameshift 15/20 - 2
1-27099849-A-T c.3728A>T p.D1243V Missense 15/20 - 1
1-27099850-T-C c.3729T>C p.D1243= Synonymous 15/20 - 1
1-27099851-C-T c.3730C>T p.P1244S Missense 15/20 - 5
1-27099852-C-A c.3731C>A p.P1244H Missense 15/20 - 9
1-27099850-TC-T c.3732del p.F1245Sfs*24 Frameshift 15/20 - 1
1-27099854-T-C c.3733T>C p.F1245L Missense 15/20 - 2
1-27099856-C-A c.3735C>A p.F1245L Missense 15/20 - 2
1-27099856-C-G c.3735C>G p.F1245L Missense 15/20 - 2
1-27099855-T-A c.3734T>A p.F1245Y Missense 15/20 - 1
1-27099855-T-G c.3734T>G p.F1245C Missense 15/20 - 2
1-27099857-A-C c.3736A>C p.M1246L Missense 15/20 - 1
1-27099857-A-G c.3736A>G p.M1246V Missense 15/20 - 1
1-27099857-A-T c.3736A>T p.M1246L Missense 15/20 - 1
1-27099858-T-C c.3737T>C p.M1246T Missense 15/20 - 1
1-27099858-T-G c.3737T>G p.M1246R Missense 15/20 - 3
1-27099859-G-A c.3738G>A p.M1246I Missense 15/20 - 2
1-27099861-C-T c.3740C>T p.S1247F Missense 15/20 - 7
1-27099860-TCCTCAGGGCAGGGCCCCAACGG-T c.3741_3762del p.S1248Gfs*14 Frameshift 15/20 - 1
1-27099864-C-A c.3743C>A p.S1248* Nonsense 15/20 - 5
1-27099864-C-G c.3743C>G p.S1248* Nonsense 15/20 - 3
1-27099864-C-T c.3743C>T p.S1248L Missense 15/20 - 2
1-27099865-A-C c.3744A>C p.S1248= Synonymous 15/20 - 2
1-27099865-A-G c.3744A>G p.S1248= Synonymous 15/20 - 1
1-27099865-A-T c.3744A>T p.S1248= Synonymous 15/20 - 1
1-27099865-CAGGGCAG-C c.3744_3750del p.G1249Afs*18 Frameshift 15/20 - 1
1-27099866-G-T c.3745G>T p.G1249W Missense 15/20 - 2
1-27099869-C-T c.3748C>T p.Q1250* Nonsense 15/20 - 6
1-27099868-GCAGGGCCCCAACGGCGGGATGGGTGA-G c.3749_3774del p.Q1250Pfs*28 Frameshift 15/20 - 1
1-27099871-G-C c.3750G>C p.Q1250H Missense 15/20 - 1
1-27099872-G-T c.3751G>T p.G1251C Missense 15/20 - 2
1-27099875-C-G c.3754C>G p.P1252A Missense 15/20 - 1
1-27099876-C-T c.3755C>T p.P1252L Missense 15/20 - 2
1-27099873-GC-G c.3756del p.N1253Tfs*16 Frameshift 15/20 - 1
1-27099877-C-CT c.3756_3757insT p.N1253* Nonsense 15/20 - 1
1-27099877-CA-C c.3758del p.N1253Tfs*16 Frameshift 15/20 - 1
1-27099879-A-G c.3758A>G p.N1253S Missense 15/20 - 5
1-27099880-C-T c.3759C>T p.N1253= Synonymous 15/20 - 1
1-27099881-G-A c.3760G>A p.G1254S Missense 15/20 - 10
1-27099883-C-A c.3762C>A p.G1254= Synonymous 15/20 - 1
1-27099883-C-G c.3762C>G p.G1254= Synonymous 15/20 - 1
1-27099883-C-T c.3762C>T p.G1254= Synonymous 15/20 - 3
1-27099884-G-A c.3763G>A p.G1255R Missense 15/20 - 6
1-27099884-G-C c.3763G>C p.G1255R Missense 15/20 - 5
1-27099885-G-A c.3764G>A p.G1255E Missense 15/20 - 4
1-27099885-G-T c.3764G>T p.G1255V Missense 15/20 - 1
1-27099886-G-A c.3765G>A p.G1255= Synonymous 15/20 - 3
1-27099886-G-C c.3765G>C p.G1255= Synonymous 15/20 - 1
1-27099886-G-T c.3765G>T p.G1255= Synonymous 15/20 - 1
1-27099887-GA-G c.3766del p.M1256Wfs*13 Frameshift 15/20 - 1
1-27099888-T-A c.3767T>A p.M1256K Missense 15/20 - 1
1-27099890-G-A c.3769G>A p.G1257S Missense 15/20 - 3
1-27099890-G-T c.3769G>T p.G1257C Missense 15/20 - 1
1-27099888-TG-T c.3770del p.G1257Vfs*12 Frameshift 15/20 - 1
1-27099892-GT-G c.3771del p.D1258Tfs*11 Frameshift 15/20 - 1
1-27099892-T-A c.3771T>A p.G1257= Synonymous 15/20 - 1
1-27099892-T-C c.3771T>C p.G1257= Synonymous 15/20 - 1
1-27099892-T-G c.3771T>G p.G1257= Synonymous 15/20 - 1
1-27099893-G-A c.3772G>A p.D1258N Missense 15/20 - 2
1-27099893-TG-T c.3772del p.D1258Tfs*11 Frameshift 15/20 - 1
1-27099895-C-A c.3774C>A p.D1258E Missense 15/20 - 1
1-27099896-C-T c.3775C>T p.P1259S Missense 15/20 - 3
1-27099895-CCCCTA-C c.3776_3780del p.P1259Qfs*26 Frameshift 15/20 - 1
1-27099897-C-T c.3776C>T p.P1259L Missense 15/20 - 3
1-27099894-AC-A c.3777del p.Y1260Tfs*9 Frameshift 15/20 - 2
1-27099898-C-A c.3777C>A p.P1259= Synonymous 15/20 - 1
1-27099898-C-G c.3777C>G p.P1259= Synonymous 15/20 - 1
1-27099898-C-T c.3777C>T p.P1259= Synonymous 15/20 - 1
1-27099899-T-G c.3778T>G p.Y1260D Missense 15/20 - 1
1-27099900-A-G c.3779A>G p.Y1260C Missense 15/20 - 2
1-27099901-AC-A c.3780del p.Y1260* Frameshift 15/20 - 1
1-27099902-A-G c.3781A>G p.S1261G Missense 15/20 - 1
1-27099905-CG-AC c.3784_3785delinsAC p.R1262T Missense 15/20 - 1
1-27099905-C-T c.3784C>T p.R1262C Missense 15/20 - 13
1-27099906-G-A c.3785G>A p.R1262H Missense 15/20 - 9
1-27099906-G-C c.3785G>C p.R1262P Missense 15/20 - 2
1-27099909-C-A c.3788C>A p.A1263D Missense 15/20 - 1
1-27099909-C-T c.3788C>T p.A1263V Missense 15/20 - 4
1-27099910-T-C c.3789T>C p.A1263= Synonymous 15/20 - 1
1-27099911-G-A c.3790G>A p.A1264T Missense 15/20 - 3
1-27099912-C-T c.3791C>T p.A1264V Missense 15/20 - 1
1-27099913-C-A c.3792C>A p.A1264= Synonymous 15/20 - 2
1-27099913-C-G c.3792C>G p.A1264= Synonymous 15/20 - 2
1-27099913-C-T c.3792C>T p.A1264= Synonymous 15/20 - 4
1-27099914-G-A c.3793G>A p.G1265S Missense 15/20 - 6
1-27099915-G-C c.3794G>C p.G1265A Missense 15/20 - 1
1-27099915-G-T c.3794G>T p.G1265V Missense 15/20 - 1
1-27099916-C-A c.3795C>A p.G1265= Synonymous 15/20 - 4
1-27099916-C-G c.3795C>G p.G1265= Synonymous 15/20 - 4
1-27099916-C-T c.3795C>T p.G1265= Synonymous 15/20 - 5
1-27099918-C-G c.3797C>G p.P1266R Missense 15/20 - 1
1-27099918-C-T c.3797C>T p.P1266L Missense 15/20 - 2
1-27099921-G-A c.3800G>A p.G1267E Missense 15/20 - 1
1-27099921-GG-AC c.3800_3801delinsAC p.G1267D Missense 15/20 - 1
1-27099924-T-C c.3803T>C p.L1268P Missense 15/20 - 1
1-27099926-G-A c.3805G>A p.G1269R Missense 15/20 - 3
1-27099926-G-C c.3805G>C p.G1269R Missense 15/20 - 2
1-27099926-G-T c.3805G>T p.G1269* Nonsense 15/20 - 1
1-27099929-A-C c.3808A>C p.N1270H Missense 15/20 - 2
1-27099930-A-G c.3809A>G p.N1270S Missense 15/20 - 2
1-27099932-G-A c.3811G>A p.V1271M Missense 15/20 - 1
1-27099933-T-G c.3812T>G p.V1271G Missense 15/20 - 1
1-27099935-G-A c.3814G>A p.A1272T Missense 15/20 - 1
1-27099935-G-T c.3814G>T p.A1272S Missense 15/20 - 1
1-27099936-C-T c.3815C>T p.A1272V Missense 15/20 - 7
1-27099937-G-A c.3816G>A p.A1272= Synonymous 15/20 - 1
1-27099938-A-C c.3817A>C p.M1273L Missense 15/20 - 1
1-27099938-A-T c.3817A>T p.M1273L Missense 15/20 - 1
1-27099939-T-C c.3818T>C p.M1273T Missense 15/20 - 1
1-27099940-G-A c.3819G>A p.M1273I Missense 15/20 - 8
1-27099940-G-C c.3819G>C p.M1273I Missense 15/20 - 4
1-27099940-G-T c.3819G>T p.M1273I Missense 15/20 - 4
1-27099941-G-A c.3820G>A p.G1274R Missense 15/20 - 1
1-27099941-G-T c.3820G>T p.G1274* Nonsense 15/20 - 1
1-27099942-GA-AC c.3821_3822delinsAC p.G1274D Missense 15/20 - 1
1-27099942-G-T c.3821G>T p.G1274V Missense 15/20 - 1
1-27099942-G-GA c.3822dup p.P1275Tfs*12 Frameshift 15/20 - 1
1-27099944-C-T c.3823C>T p.P1275S Missense 15/20 - 2
1-27099945-CCACG-C c.3824_3827del p.P1275Hfs*13 Frameshift 15/20 - 1
1-27099945-C-T c.3824C>T p.P1275L Missense 15/20 - 2
1-27099947-C-A c.3826C>A p.R1276= Synonymous 15/20 - 1
1-27099947-C-T c.3826C>T p.R1276* Nonsense 15/20 - 61
1-27099949-A-C c.3828A>C p.R1276= Synonymous 15/20 - 1
1-27099949-A-G c.3828A>G p.R1276= Synonymous 15/20 - 1
1-27099949-A-T c.3828A>T p.R1276= Synonymous 15/20 - 1
1-27099948-G-A c.3827G>A p.R1276Q Missense 15/20 - 3
1-27099948-GA-AT c.3827_3828delinsAT p.R1276H Missense 15/20 - 1
1-27099950-C-T c.3829C>T p.Q1277* Nonsense 15/20 - 6
1-27099950-C-CA c.3830dup p.H1278Afs*9 Frameshift 15/20 - 1
1-27099951-A-C c.3830A>C p.Q1277P Missense 15/20 - 1
1-27099952-G-A c.3831G>A p.Q1277= Synonymous 15/20 - 2
1-27099954-A-G c.3833A>G p.H1278R Missense 15/20 - 1
1-27099956-T-C c.3835T>C p.Y1279H Missense 15/20 - 1
1-27099952-G-GCACTACCC c.3836_3837insCCCCACTA p.Y1281Tfs*11 Frameshift 15/20 - 1
1-27099957-A-G c.3836A>G p.Y1279C Missense 15/20 - 1
1-27099958-T-A c.3837T>A p.Y1279* Nonsense 15/20 - 3
1-27099958-T-G c.3837T>G p.Y1279* Nonsense 15/20 - 3
1-27099959-C-T c.3838C>T p.P1280S Missense 15/20 - 1
1-27099960-C-T c.3839C>T p.P1280L Missense 15/20 - 1
1-27099961-C-A c.3840C>A p.P1280= Synonymous 15/20 - 1
1-27099961-C-G c.3840C>G p.P1280= Synonymous 15/20 - 1
1-27099961-C-T c.3840C>T p.P1280= Synonymous 15/20 - 1
1-27099963-A-G c.3842A>G p.Y1281C Missense 15/20 - 4
1-27099963-A-T c.3842A>T p.Y1281F Missense 15/20 - 2
1-27099964-AT-A c.3843del p.Y1281* Frameshift 15/20 - 1
1-27099964-T-A c.3843T>A p.Y1281* Nonsense 15/20 - 1
1-27099964-T-G c.3843T>G p.Y1281* Nonsense 15/20 - 1
1-27099965-G-A c.3844G>A p.G1282R Missense 15/20 - 1
1-27099965-G-C c.3844G>C p.G1282R Missense 15/20 - 1
1-27099965-G-T c.3844G>T p.G1282* Nonsense 15/20 - 1
1-27099966-G-A c.3845G>A p.G1282E Missense 15/20 - 2
1-27099966-GA-AC c.3845_3846delinsAC p.G1282D Missense 15/20 - 1
1-27099967-A-AT c.3846_3847insT p.G1283Wfs*4 Frameshift 15/20 - 1
1-27099968-G-A c.3847G>A p.G1283S Missense 15/20 - 1
1-27099968-G-T c.3847G>T p.G1283C Missense 15/20 - 1
1-27099969-G-A c.3848G>A p.G1283D Missense 15/20 - 1
1-27099969-G-T c.3848G>T p.G1283V Missense 15/20 - 1
1-27099971-C-T c.3850C>T p.P1284S Missense 15/20 - 1
1-27099973-CTTATG-C c.3852_3856del p.Y1285Qfs*11 Frameshift 15/20 - 1
1-27099972-C-CT c.3853dup p.Y1285Lfs*2 Frameshift 15/20 - 1
1-27099974-T-TA c.3854dup p.Y1285* Nonsense 15/20 - 2
1-27099975-A-C c.3854A>C p.Y1285S Missense 15/20 - 1
1-27099975-ATGACAGA-T c.3854_3861delinsT p.Y1285Lfs*2 Frameshift 15/20 - 1
1-27099976-T-A c.3855T>A p.Y1285* Nonsense 15/20 - 1
1-27099976-T-C c.3855T>C p.Y1285= Synonymous 15/20 - 2
1-27099976-T-G c.3855T>G p.Y1285* Nonsense 15/20 - 5
1-27099977-G-A c.3856G>A p.D1286N Missense 15/20 - 2
1-27099979-C-CT c.3858_3859insT p.R1287* Nonsense 15/20 - 1
1-27099978-ACAGAGTGAGGTAAGCATGAC-A c.3859_3866+12del - SpliceDonorDeletion 15/20 15/19 1
1-27099979-C-CA c.3859dup p.R1287Kfs*11 Frameshift 15/20 - 2
1-27099980-A-T c.3859A>T p.R1287* Nonsense 15/20 - 2
1-27099981-G-A c.3860G>A p.R1287K Missense 15/20 - 1
1-27099981-G-C c.3860G>C p.R1287T Missense 15/20 - 8
1-27099984-TGA-T c.3865_3866del p.R1289Dfs*8 SpliceDonorDeletion 15/20 - 1
1-27099987-G-A c.3866G>A p.R1289K Missense 15/20 - 1
1-27099988-G-A c.3866+1G>A - IntronicSNV - 15/19 2
1-27099988-G-C c.3866+1G>C - IntronicSNV - 15/19 1
1-27099995-T-A c.3866+8T>A - IntronicSNV - 15/19 1
1-27100003-G-A c.3866+16G>A - IntronicSNV - 15/19 1
1-27100022-G-C c.3866+35G>C - IntronicSNV - 15/19 1
1-27100063-T-G c.3867-8T>G - IntronicSNV - 15/19 1
1-27100071-G-A c.3867G>A p.R1289= Synonymous 16/20 - 1
1-27100072-A-G c.3868A>G p.T1290A Missense 16/20 - 2
1-27100072-A-T c.3868A>T p.T1290S Missense 16/20 - 1
1-27100073-C-G c.3869C>G p.T1290R Missense 16/20 - 1
1-27100073-CG-TC c.3869_3870delinsTC p.T1290I Missense 16/20 - 1
1-27100073-C-T c.3869C>T p.T1290M Missense 16/20 - 4
1-27100074-G-A c.3870G>A p.T1290= Synonymous 16/20 - 3
1-27100074-G-C c.3870G>C p.T1290= Synonymous 16/20 - 1
1-27100074-G-GT c.3870_3871insT p.E1291* Nonsense 16/20 - 1
1-27100074-G-T c.3870G>T p.T1290= Synonymous 16/20 - 1
1-27100075-G-A c.3871G>A p.E1291K Missense 16/20 - 1
1-27100075-G-T c.3871G>T p.E1291* Nonsense 16/20 - 6
1-27100077-G-C c.3873G>C p.E1291D Missense 16/20 - 1
1-27100077-G-T c.3873G>T p.E1291D Missense 16/20 - 2
1-27100079-C-T c.3875C>T p.P1292L Missense 16/20 - 1
1-27100081-G-T c.3877G>T p.G1293* Nonsense 16/20 - 1
1-27100080-TG-T c.3878del p.G1293Efs*2 Frameshift 16/20 - 1
1-27100082-G-A c.3878G>A p.G1293E Missense 16/20 - 1
1-27100082-G-C c.3878G>C p.G1293A Missense 16/20 - 1
1-27100084-A-G c.3880A>G p.I1294V Missense 16/20 - 2
1-27100087-G-A c.3883G>A p.G1295R Missense 16/20 - 1
1-27100087-G-T c.3883G>T p.G1295W Missense 16/20 - 1
1-27100088-G-A c.3884G>A p.G1295E Missense 16/20 - 1
1-27100088-G-T c.3884G>T p.G1295V Missense 16/20 - 1
1-27100090-C-T c.3886C>T p.P1296S Missense 16/20 - 1
1-27100091-C-T c.3887C>T p.P1296L Missense 16/20 - 4
1-27100093-G-A c.3889G>A p.E1297K Missense 16/20 - 1
1-27100093-G-C c.3889G>C p.E1297Q Missense 16/20 - 2
1-27100093-G-T c.3889G>T p.E1297* Nonsense 16/20 - 5
1-27100094-A-C c.3890A>C p.E1297A Missense 16/20 - 1
1-27100096-G-C c.3892G>C p.G1298R Missense 16/20 - 1
1-27100096-G-T c.3892G>T p.G1298* Nonsense 16/20 - 4
1-27100097-G-A c.3893G>A p.G1298E Missense 16/20 - 3
1-27100097-G-C c.3893G>C p.G1298A Missense 16/20 - 1
1-27100097-G-T c.3893G>T p.G1298V Missense 16/20 - 1
1-27100100-A-G c.3896A>G p.N1299S Missense 16/20 - 2
1-27100104-G-A c.3900G>A p.M1300I Missense 16/20 - 2
1-27100104-G-C c.3900G>C p.M1300I Missense 16/20 - 2
1-27100104-G-T c.3900G>T p.M1300I Missense 16/20 - 2
1-27100105-A-G c.3901A>G p.S1301G Missense 16/20 - 2
1-27100106-G-A c.3902G>A p.S1301N Missense 16/20 - 2
1-27100107-C-A c.3903C>A p.S1301R Missense 16/20 - 1
1-27100108-A-G c.3904A>G p.T1302A Missense 16/20 - 2
1-27100108-A-T c.3904A>T p.T1302S Missense 16/20 - 2
1-27100108-CA-C c.3904del p.T1302Lfs*179 Frameshift 16/20 - 1
1-27100109-C-G c.3905C>G p.T1302S Missense 16/20 - 2
1-27100109-CT-TG c.3905_3906delinsTG p.T1302M Missense 16/20 - 1
1-27100110-T-A c.3906T>A p.T1302= Synonymous 16/20 - 1
1-27100110-T-C c.3906T>C p.T1302= Synonymous 16/20 - 2
1-27100110-T-G c.3906T>G p.T1302= Synonymous 16/20 - 1
1-27100111-G-A c.3907G>A p.G1303R Missense 16/20 - 2
1-27100111-G-C c.3907G>C p.G1303R Missense 16/20 - 1
1-27100113-G-T c.3909G>T p.G1303= Synonymous 16/20 - 1
1-27100110-T-TG c.3910dup p.A1304Gfs*19 Frameshift 16/20 - 1
1-27100114-G-A c.3910G>A p.A1304T Missense 16/20 - 1
1-27100115-C-T c.3911C>T p.A1304V Missense 16/20 - 1
1-27100117-C-T c.3913C>T p.P1305S Missense 16/20 - 7
1-27100114-GC-G c.3914del p.P1305Hfs*176 Frameshift 16/20 - 1
1-27100118-C-T c.3914C>T p.P1305L Missense 16/20 - 2
1-27100118-C-CA c.3915dup p.Q1306Tfs*17 Frameshift 16/20 - 1
1-27100120-C-T c.3916C>T p.Q1306* Nonsense 16/20 - 5
1-27100123-C-T c.3919C>T p.P1307S Missense 16/20 - 3
1-27100124-C-T c.3920C>T p.P1307L Missense 16/20 - 3
1-27100125-G-A c.3921G>A p.P1307= Synonymous 16/20 - 3
1-27100125-G-C c.3921G>C p.P1307= Synonymous 16/20 - 2
1-27100125-G-T c.3921G>T p.P1307= Synonymous 16/20 - 2
1-27100126-A-C c.3922A>C p.N1308H Missense 16/20 - 3
1-27100126-A-G c.3922A>G p.N1308D Missense 16/20 - 1
1-27100127-A-G c.3923A>G p.N1308S Missense 16/20 - 2
1-27100129-C-A c.3925C>A p.L1309I Missense 16/20 - 1
1-27100129-C-T c.3925C>T p.L1309F Missense 16/20 - 1
1-27100131-C-A c.3927C>A p.L1309= Synonymous 16/20 - 1
1-27100131-C-G c.3927C>G p.L1309= Synonymous 16/20 - 1
1-27100131-C-T c.3927C>T p.L1309= Synonymous 16/20 - 1
1-27100133-T-C c.3929T>C p.M1310T Missense 16/20 - 1
1-27100135-C-T c.3931C>T p.P1311S Missense 16/20 - 1
1-27100136-CT-C c.3934del p.S1312Pfs*169 Frameshift 16/20 - 2
1-27100139-C-A c.3935C>A p.S1312Y Missense 16/20 - 1
1-27100139-C-G c.3935C>G p.S1312C Missense 16/20 - 3
1-27100139-C-T c.3935C>T p.S1312F Missense 16/20 - 2
1-27100141-A-G c.3937A>G p.N1313D Missense 16/20 - 1
1-27100140-CA-C c.3938del p.N1313Tfs*168 Frameshift 16/20 - 2
1-27100142-A-C c.3938A>C p.N1313T Missense 16/20 - 3
1-27100142-A-G c.3938A>G p.N1313S Missense 16/20 - 5
1-27100143-C-A c.3939C>A p.N1313K Missense 16/20 - 1
1-27100144-C-G c.3940C>G p.P1314A Missense 16/20 - 2
1-27100145-C-T c.3941C>T p.P1314L Missense 16/20 - 3
1-27100148-A-G c.3944A>G p.D1315G Missense 16/20 - 2
1-27100149-C-A c.3945C>A p.D1315E Missense 16/20 - 1
1-27100149-C-T c.3945C>T p.D1315= Synonymous 16/20 - 1
1-27100150-TC-GA c.3946_3947inv p.S1316E Missense 16/20 - 1
1-27100150-T-G c.3946T>G p.S1316A Missense 16/20 - 2
1-27100151-C-A c.3947C>A p.S1316* Nonsense 16/20 - 5
1-27100151-C-T c.3947C>T p.S1316L Missense 16/20 - 6
1-27100152-G-T c.3948G>T p.S1316= Synonymous 16/20 - 2
1-27100153-G-A c.3949G>A p.G1317R Missense 16/20 - 3
1-27100153-G-C c.3949G>C p.G1317R Missense 16/20 - 1
1-27100153-G-T c.3949G>T p.G1317W Missense 16/20 - 7
1-27100154-G-T c.3950G>T p.G1317V Missense 16/20 - 1
1-27100151-C-CG c.3951dup p.M1318Dfs*5 Frameshift 16/20 - 1
1-27100155-G-C c.3951G>C p.G1317= Synonymous 16/20 - 1
1-27100156-GA-G c.3952del p.M1318Cfs*163 Frameshift 16/20 - 2
1-27100158-TG-T c.3954del p.M1318Ifs*163 Frameshift 16/20 - 1
1-27100161-T-A c.3957T>A p.Y1319* Nonsense 16/20 - 4
1-27100161-T-G c.3957T>G p.Y1319* Nonsense 16/20 - 4
1-27100162-TCT-GAG c.3958_3960delinsGAG p.S1320E Missense 16/20 - 1
1-27100162-T-G c.3958T>G p.S1320A Missense 16/20 - 1
1-27100163-C-A c.3959C>A p.S1320Y Missense 16/20 - 3
1-27100163-C-T c.3959C>T p.S1320F Missense 16/20 - 1
1-27100165-C-T c.3961C>T p.P1321S Missense 16/20 - 12
1-27100168-A-G c.3964A>G p.S1322G Missense 16/20 - 2
1-27100168-A-T c.3964A>T p.S1322C Missense 16/20 - 1
1-27100171-C-A c.3967C>A p.R1323S Missense 16/20 - 1
1-27100171-C-T c.3967C>T p.R1323C Missense 16/20 - 10
1-27100172-G-A c.3968G>A p.R1323H Missense 16/20 - 7
1-27100172-G-T c.3968G>T p.R1323L Missense 16/20 - 2
1-27100176-C-A c.3972C>A p.Y1324* Nonsense 16/20 - 8
1-27100176-C-G c.3972C>G p.Y1324* Nonsense 16/20 - 3
1-27100176-C-T c.3972C>T p.Y1324= Synonymous 16/20 - 2
1-27100178-C-T c.3974C>T p.P1325L Missense 16/20 - 2
1-27100180-C-A c.3976C>A p.P1326T Missense 16/20 - 1
1-27100180-C-G c.3976C>G p.P1326A Missense 16/20 - 2
1-27100180-C-T c.3976C>T p.P1326S Missense 16/20 - 1
1-27100175-A-AC c.3977dup p.Q1327Afs*11 Frameshift 16/20 - 12
1-27100175-AC-A c.3977del p.P1326Rfs*155 Frameshift 16/20 - 18
1-27100179-CCCG-C c.3977_3979del p.P1326del InFrameDeletion 16/20 - 1
1-27100181-C-A c.3977C>A p.P1326Q Missense 16/20 - 1
1-27100181-C-G c.3977C>G p.P1326R Missense 16/20 - 1
1-27100181-C-T c.3977C>T p.P1326L Missense 16/20 - 9
1-27100180-CCG-C c.3978_3979del p.Q1327Afs*10 Frameshift 16/20 - 2
1-27100181-C-CG c.3978dup p.Q1327Afs*11 Frameshift 16/20 - 2
1-27100182-G-A c.3978G>A p.P1326= Synonymous 16/20 - 7
1-27100182-G-C c.3978G>C p.P1326= Synonymous 16/20 - 2
1-27100182-G-T c.3978G>T p.P1326= Synonymous 16/20 - 7
1-27100182-G-GC c.3979dup p.Q1327Pfs*11 Frameshift 16/20 - 1
1-27100183-CA-GC c.3979_3980delinsGC p.Q1327A Missense 16/20 - 1
1-27100183-C-T c.3979C>T p.Q1327* Nonsense 16/20 - 7
1-27100182-G-GCAA c.3980_3981insACA p.Q1334dup InFrameInsertion 16/20 - 1
1-27100182-G-GCAACAA c.3980_3981insACAACA p.Q1333_Q1334dup InFrameInsertion 16/20 - 1
1-27100184-A-AC c.3980_3981insC p.Q1327Hfs*11 Frameshift 16/20 - 1
1-27100184-A-C c.3980A>C p.Q1327P Missense 16/20 - 1
1-27100185-G-C c.3981G>C p.Q1327H Missense 16/20 - 1
1-27100185-G-T c.3981G>T p.Q1327H Missense 16/20 - 1
1-27100186-C-T c.3982C>T p.Q1328* Nonsense 16/20 - 3
1-27100189-C-T c.3985C>T p.Q1329* Nonsense 16/20 - 5
1-27100191-G-C c.3987G>C p.Q1329H Missense 16/20 - 1
1-27100191-G-T c.3987G>T p.Q1329H Missense 16/20 - 1
1-27100192-CAG-ATC c.3988_3990delinsATC p.Q1330I Missense 16/20 - 2
1-27100192-C-T c.3988C>T p.Q1330* Nonsense 16/20 - 2
1-27100193-A-G c.3989A>G p.Q1330R Missense 16/20 - 1
1-27100195-C-G c.3991C>G p.Q1331E Missense 16/20 - 1
1-27100195-C-T c.3991C>T p.Q1331* Nonsense 16/20 - 10
1-27100197-G-A c.3993G>A p.Q1331= Synonymous 16/20 - 1
1-27100198-C-A c.3994C>A p.Q1332K Missense 16/20 - 1
1-27100198-C-T c.3994C>T p.Q1332* Nonsense 16/20 - 3
1-27100199-A-G c.3995A>G p.Q1332R Missense 16/20 - 1
1-27100181-CGCAGCA-C c.3996_4001del p.Q1333_Q1334del InFrameDeletion 16/20 - 1
1-27100199-A-AG c.3996dup p.Q1333Afs*5 Frameshift 16/20 - 1
1-27100201-CAG-TTT c.3997_3999delinsTTT p.Q1333F Missense 16/20 - 1
1-27100201-C-T c.3997C>T p.Q1333* Nonsense 16/20 - 3
1-27100200-GCAGCAA-G c.3998_4003del p.Q1333_Q1334del InFrameDeletion 16/20 - 1
1-27100181-CGCA-C c.3999_4001del p.Q1334del InFrameDeletion 16/20 - 33
1-27100203-G-A c.3999G>A p.Q1333= Synonymous 16/20 - 2
1-27100203-G-GGA c.3999_4000insGA p.Q1334Dfs*148 Frameshift 16/20 - 1
1-27100204-C-T c.4000C>T p.Q1334* Nonsense 16/20 - 5
1-27100203-GCAA-G c.4001_4003del p.Q1334del InFrameDeletion 16/20 - 8
1-27100203-G-GCAA c.4001_4003dup p.Q1334dup SpliceDonorInsertion 16/20 - 1
1-27100205-A-G c.4001A>G p.Q1334R Missense 16/20 - 1
1-27100206-A-C c.4002A>C p.Q1334H Missense 16/20 - 1
1-27100206-A-G c.4002A>G p.Q1334= Synonymous 16/20 - 3
1-27100206-A-T c.4002A>T p.Q1334H Missense 16/20 - 1
1-27100207-C-G c.4003C>G p.R1335G Missense 16/20 - 1
1-27100207-CG-AC c.4003_4004delinsAC p.R1335T Missense 16/20 - 1
1-27100207-C-T c.4003C>T p.R1335* Nonsense 16/20 - 57
1-27100208-G-A c.4004G>A p.R1335Q Missense 16/20 - 4
1-27100208-G-T c.4004G>T p.R1335L Missense 16/20 - 1
1-27100209-G-A c.4004+1G>A - IntronicSNV - 16/19 1
1-27100223-G-A c.4004+15G>A - IntronicSNV - 16/19 1
1-27100227-C-T c.4004+19C>T - IntronicSNV - 16/19 1
1-27100243-C-T c.4004+35C>T - IntronicSNV - 16/19 3
1-27100291-AGACATGATTCCTAT-A c.4005_4018del p.H1336Qfs*104 SpliceAcceptorDeletion 17/20 - 1
1-27100295-A-G c.4007A>G p.H1336R Missense 17/20 - 3
1-27100297-G-A c.4009G>A p.D1337N Missense 17/20 - 6
1-27100298-A-T c.4010A>T p.D1337V Missense 17/20 - 1
1-27100299-ATT-A c.4011_4012del p.S1338Lfs*106 Frameshift 17/20 - 1
1-27100301-CC-AA c.4013_4014delinsAA p.S1338* Nonsense 17/20 - 1
1-27100301-C-G c.4013C>G p.S1338C Missense 17/20 - 1
1-27100301-C-T c.4013C>T p.S1338F Missense 17/20 - 2
1-27100302-C-A c.4014C>A p.S1338= Synonymous 17/20 - 1
1-27100302-C-G c.4014C>G p.S1338= Synonymous 17/20 - 1
1-27100302-C-T c.4014C>T p.S1338= Synonymous 17/20 - 2
1-27100304-A-G c.4016A>G p.Y1339C Missense 17/20 - 1
1-27100306-G-A c.4018G>A p.G1340S Missense 17/20 - 1
1-27100307-G-A c.4019G>A p.G1340D Missense 17/20 - 1
1-27100307-G-T c.4019G>T p.G1340V Missense 17/20 - 1
1-27100310-A-G c.4022A>G p.N1341S Missense 17/20 - 1
1-27100312-C-A c.4024C>A p.Q1342K Missense 17/20 - 1
1-27100312-C-T c.4024C>T p.Q1342* Nonsense 17/20 - 13
1-27100313-A-C c.4025A>C p.Q1342P Missense 17/20 - 2
1-27100313-A-G c.4025A>G p.Q1342R Missense 17/20 - 1
1-27100313-A-T c.4025A>T p.Q1342L Missense 17/20 - 1
1-27100315-T-C c.4027T>C p.F1343L Missense 17/20 - 1
1-27100315-T-G c.4027T>G p.F1343V Missense 17/20 - 1
1-27100317-C-A c.4029C>A p.F1343L Missense 17/20 - 1
1-27100317-C-G c.4029C>G p.F1343L Missense 17/20 - 1
1-27100315-TTC-T c.4030_4031del p.S1344Hfs*100 Frameshift 17/20 - 1
1-27100318-T-C c.4030T>C p.S1344P Missense 17/20 - 1
1-27100319-CC-AA c.4031_4032delinsAA p.S1344* Nonsense 17/20 - 1
1-27100319-C-T c.4031C>T p.S1344F Missense 17/20 - 1
1-27100318-TC-T c.4032del p.T1345Pfs*136 Frameshift 17/20 - 1
1-27100321-A-G c.4033A>G p.T1345A Missense 17/20 - 2
1-27100321-A-T c.4033A>T p.T1345S Missense 17/20 - 2
1-27100322-CC-TG c.4034_4035delinsTG p.T1345M Missense 17/20 - 1
1-27100322-C-G c.4034C>G p.T1345S Missense 17/20 - 2
1-27100322-C-T c.4034C>T p.T1345I Missense 17/20 - 2
1-27100324-C-T c.4036C>T p.Q1346* Nonsense 17/20 - 3
1-27100325-A-C c.4037A>C p.Q1346P Missense 17/20 - 1
1-27100327-G-A c.4039G>A p.G1347S Missense 17/20 - 1
1-27100328-G-T c.4040G>T p.G1347V Missense 17/20 - 1
1-27100330-A-C c.4042A>C p.T1348P Missense 17/20 - 1
1-27100331-C-G c.4043C>G p.T1348S Missense 17/20 - 2
1-27100331-C-T c.4043C>T p.T1348I Missense 17/20 - 3
1-27100332-C-A c.4044C>A p.T1348= Synonymous 17/20 - 1
1-27100332-C-G c.4044C>G p.T1348= Synonymous 17/20 - 1
1-27100332-C-T c.4044C>T p.T1348= Synonymous 17/20 - 1
1-27100333-C-G c.4045C>G p.P1349A Missense 17/20 - 1
1-27100333-C-T c.4045C>T p.P1349S Missense 17/20 - 4
1-27100330-AC-A c.4046del p.P1349Lfs*132 Frameshift 17/20 - 1
1-27100334-C-T c.4046C>T p.P1349L Missense 17/20 - 1
1-27100334-C-CT c.4048dup p.S1350Ffs*95 Frameshift 17/20 - 1
1-27100337-C-G c.4049C>G p.S1350C Missense 17/20 - 1
1-27100337-C-T c.4049C>T p.S1350F Missense 17/20 - 3
1-27100337-CT-AA c.4049_4050delinsAA p.S1350* Nonsense 17/20 - 1
1-27100339-G-A c.4051G>A p.G1351S Missense 17/20 - 1
1-27100340-G-A c.4052G>A p.G1351D Missense 17/20 - 2
1-27100340-G-C c.4052G>C p.G1351A Missense 17/20 - 1
1-27100340-G-T c.4052G>T p.G1351V Missense 17/20 - 1
1-27100341-C-A c.4053C>A p.G1351= Synonymous 17/20 - 2
1-27100341-C-G c.4053C>G p.G1351= Synonymous 17/20 - 2
1-27100341-C-T c.4053C>T p.G1351= Synonymous 17/20 - 4
1-27100342-AGC-TGA c.4054_4056delinsTGA p.S1352* Nonsense 17/20 - 1
1-27100343-G-A c.4055G>A p.S1352N Missense 17/20 - 2
1-27100340-GCAGCCCCTTCCCCAGC-G c.4057_4072del p.P1353Rfs*123 Frameshift 17/20 - 1
1-27100345-C-T c.4057C>T p.P1353S Missense 17/20 - 1
1-27100343-GC-G c.4059del p.F1354Sfs*127 Frameshift 17/20 - 1
1-27100343-G-GC c.4059dup p.F1354Lfs*91 Frameshift 17/20 - 1
1-27100347-C-A c.4059C>A p.P1353= Synonymous 17/20 - 1
1-27100347-C-G c.4059C>G p.P1353= Synonymous 17/20 - 1
1-27100347-C-T c.4059C>T p.P1353= Synonymous 17/20 - 1
1-27100350-C-G c.4062C>G p.F1354L Missense 17/20 - 4
1-27100350-C-T c.4062C>T p.F1354= Synonymous 17/20 - 10
1-27100352-C-A c.4064C>A p.P1355H Missense 17/20 - 1
1-27100352-C-T c.4064C>T p.P1355L Missense 17/20 - 3
1-27100349-TC-T c.4065del p.S1356Afs*125 Frameshift 17/20 - 3
1-27100349-T-TC c.4065dup p.S1356Qfs*89 Frameshift 17/20 - 1
1-27100354-A-G c.4066A>G p.S1356G Missense 17/20 - 1
1-27100354-CA-C c.4066del p.S1356Afs*125 Frameshift 17/20 - 2
1-27100355-G-A c.4067G>A p.S1356N Missense 17/20 - 1
1-27100355-G-T c.4067G>T p.S1356I Missense 17/20 - 1
1-27100356-C-T c.4068C>T p.S1356= Synonymous 17/20 - 1
1-27100357-C-T c.4069C>T p.Q1357* Nonsense 17/20 - 4
1-27100358-A-T c.4070A>T p.Q1357L Missense 17/20 - 10
1-27100360-C-A c.4072C>A p.Q1358K Missense 17/20 - 1
1-27100360-C-T c.4072C>T p.Q1358* Nonsense 17/20 - 6
1-27100362-G-C c.4074G>C p.Q1358H Missense 17/20 - 1
1-27100362-G-T c.4074G>T p.Q1358H Missense 17/20 - 1
1-27100363-A-T c.4075A>T p.T1359S Missense 17/20 - 3
1-27100363-GAC-G c.4075_4076del p.T1359Yfs*85 Frameshift 17/20 - 1
1-27100364-C-G c.4076C>G p.T1359S Missense 17/20 - 1
1-27100364-C-T c.4076C>T p.T1359I Missense 17/20 - 1
1-27100362-GACT-G c.4077_4079del p.T1360del InFrameDeletion 17/20 - 2
1-27100366-A-G c.4078A>G p.T1360A Missense 17/20 - 1
1-27100367-ACAATG-A c.4079_4083del p.T1360Ifs*83 Frameshift 17/20 - 1
1-27100367-C-T c.4079C>T p.T1360I Missense 17/20 - 1
1-27100369-A-G c.4081A>G p.M1361V Missense 17/20 - 3
1-27100370-T-A c.4082T>A p.M1361K Missense 17/20 - 1
1-27100371-G-C c.4083G>C p.M1361I Missense 17/20 - 2
1-27100371-G-T c.4083G>T p.M1361I Missense 17/20 - 1
1-27100374-T-A c.4086T>A p.Y1362* Nonsense 17/20 - 1
1-27100374-T-G c.4086T>G p.Y1362* Nonsense 17/20 - 3
1-27100375-C-T c.4087C>T p.Q1363* Nonsense 17/20 - 16
1-27100377-A-C c.4089A>C p.Q1363H Missense 17/20 - 1
1-27100377-A-T c.4089A>T p.Q1363H Missense 17/20 - 1
1-27100378-C-T c.4090C>T p.Q1364* Nonsense 17/20 - 2
1-27100379-A-T c.4091A>T p.Q1364L Missense 17/20 - 3
1-27100380-AGCAAC-A c.4092_4096del p.Q1365Afs*78 Frameshift 17/20 - 1
1-27100380-G-T c.4092G>T p.Q1364H Missense 17/20 - 1
1-27100381-C-A c.4093C>A p.Q1365K Missense 17/20 - 1
1-27100381-C-T c.4093C>T p.Q1365* Nonsense 17/20 - 8
1-27100382-A-T c.4094A>T p.Q1365L Missense 17/20 - 1
1-27100381-CA-C c.4095del p.Q1365Hfs*116 Frameshift 17/20 - 1
1-27100384-C-T c.4096C>T p.Q1366* Nonsense 17/20 - 2
1-27100383-ACAG-A c.4099_4101del p.Q1367del InFrameDeletion 17/20 - 1
1-27100387-C-T c.4099C>T p.Q1367* Nonsense 17/20 - 5
1-27100388-A-G c.4100A>G p.Q1367R Missense 17/20 - 1
1-27100389-G-A c.4101G>A p.Q1367= Synonymous 17/20 - 3
1-27100389-G-C c.4101G>C p.Q1367H Missense 17/20 - 3
1-27100389-G-T c.4101G>T p.Q1367H Missense 17/20 - 3
1-27100390-G-A c.4101+1G>A - IntronicSNV - 17/19 1
1-27100390-G-C c.4101+1G>C - IntronicSNV - 17/19 1
1-27100390-G-T c.4101+1G>T - IntronicSNV - 17/19 2
1-27100391-T-C c.4101+2T>C - IntronicSNV - 17/19 2
1-27100419-A-G c.4101+30A>G - IntronicSNV - 17/19 1
1-27100463-G-T c.4101+74G>T - IntronicSNV - 17/19 1
1-27100820-A-C c.4102A>C p.N1368H Missense 18/20 - 2
1-27100827-A-G c.4109A>G p.K1370R Missense 18/20 - 2
1-27100828-G-C c.4110G>C p.K1370N Missense 18/20 - 1
1-27100828-G-T c.4110G>T p.K1370N Missense 18/20 - 2
1-27100829-C-T c.4111C>T p.R1371W Missense 18/20 - 2
1-27100830-G-A c.4112G>A p.R1371Q Missense 18/20 - 2
1-27100832-C-A c.4114C>A p.P1372T Missense 18/20 - 2
1-27100832-C-T c.4114C>T p.P1372S Missense 18/20 - 6
1-27100833-C-T c.4115C>T p.P1372L Missense 18/20 - 1
1-27100832-CCAATGGATGGCACATATGGCCCTCCTGCCAAGCGGCA-C c.4116_4152del p.M1373Kfs*96 Frameshift 18/20 - 1
1-27100835-A-C c.4117A>C p.M1373L Missense 18/20 - 1
1-27100835-A-G c.4117A>G p.M1373V Missense 18/20 - 2
1-27100836-T-C c.4118T>C p.M1373T Missense 18/20 - 1
1-27100837-G-A c.4119G>A p.M1373I Missense 18/20 - 2
1-27100837-G-C c.4119G>C p.M1373I Missense 18/20 - 2
1-27100837-G-T c.4119G>T p.M1373I Missense 18/20 - 2
1-27100838-G-A c.4120G>A p.D1374N Missense 18/20 - 1
1-27100838-G-C c.4120G>C p.D1374H Missense 18/20 - 2
1-27100839-A-G c.4121A>G p.D1374G Missense 18/20 - 2
1-27100841-G-A c.4123G>A p.G1375S Missense 18/20 - 1
1-27100842-G-A c.4124G>A p.G1375D Missense 18/20 - 2
1-27100842-G-C c.4124G>C p.G1375A Missense 18/20 - 4
1-27100842-G-T c.4124G>T p.G1375V Missense 18/20 - 2
1-27100845-C-T c.4127C>T p.T1376I Missense 18/20 - 2
1-27100847-AT-A c.4129del p.Y1377Mfs*104 Frameshift 18/20 - 1
1-27100847-T-G c.4129T>G p.Y1377D Missense 18/20 - 1
1-27100848-A-G c.4130A>G p.Y1377C Missense 18/20 - 5
1-27100849-T-A c.4131T>A p.Y1377* Nonsense 18/20 - 4
1-27100849-T-G c.4131T>G p.Y1377* Nonsense 18/20 - 4
1-27100853-C-T c.4135C>T p.P1379S Missense 18/20 - 1
1-27100851-GC-G c.4136del p.P1379Lfs*102 Frameshift 18/20 - 1
1-27100852-CCCT-C c.4138_4140del p.P1380del InFrameDeletion 18/20 - 1
1-27100856-C-T c.4138C>T p.P1380S Missense 18/20 - 1
1-27100857-C-T c.4139C>T p.P1380L Missense 18/20 - 2
1-27100859-G-A c.4141G>A p.A1381T Missense 18/20 - 4
1-27100860-C-A c.4142C>A p.A1381D Missense 18/20 - 1
1-27100860-C-T c.4142C>T p.A1381V Missense 18/20 - 2
1-27100861-C-CT c.4143_4144insT p.K1382* Nonsense 18/20 - 1
1-27100862-A-G c.4144A>G p.K1382E Missense 18/20 - 1
1-27100862-A-T c.4144A>T p.K1382* Nonsense 18/20 - 1
1-27100863-A-C c.4145A>C p.K1382T Missense 18/20 - 1
1-27100863-A-T c.4145A>T p.K1382M Missense 18/20 - 1
1-27100864-G-A c.4146G>A p.K1382= Synonymous 18/20 - 2
1-27100865-C-T c.4147C>T p.R1383W Missense 18/20 - 4
1-27100866-G-A c.4148G>A p.R1383Q Missense 18/20 - 8
1-27100870-C-A c.4152C>A p.H1384Q Missense 18/20 - 1
1-27100870-C-G c.4152C>G p.H1384Q Missense 18/20 - 1
1-27100870-C-T c.4152C>T p.H1384= Synonymous 18/20 - 2
1-27100871-G-A c.4153G>A p.E1385K Missense 18/20 - 4
1-27100871-G-T c.4153G>T p.E1385* Nonsense 18/20 - 1
1-27100874-G-A c.4156G>A p.G1386R Missense 18/20 - 1
1-27100874-G-C c.4156G>C p.G1386R Missense 18/20 - 1
1-27100874-G-T c.4156G>T p.G1386W Missense 18/20 - 1
1-27100876-G-GT c.4158_4159insT p.E1387* Nonsense 18/20 - 1
1-27100877-G-A c.4159G>A p.E1387K Missense 18/20 - 1
1-27100878-A-G c.4160A>G p.E1387G Missense 18/20 - 3
1-27100879-G-T c.4161G>T p.E1387D Missense 18/20 - 1
1-27100880-A-G c.4162A>G p.M1388V Missense 18/20 - 1
1-27100881-T-C c.4163T>C p.M1388T Missense 18/20 - 1
1-27100881-T-G c.4163T>G p.M1388R Missense 18/20 - 2
1-27100882-G-A c.4164G>A p.M1388I Missense 18/20 - 2
1-27100883-T-A c.4165T>A p.Y1389N Missense 18/20 - 1
1-27100884-A-G c.4166A>G p.Y1389C Missense 18/20 - 1
1-27100886-A-G c.4168A>G p.S1390G Missense 18/20 - 1
1-27100886-AG-CT c.4168_4169inv p.S1390L Missense 18/20 - 1
1-27100887-G-T c.4169G>T p.S1390I Missense 18/20 - 2
1-27100888-C-T c.4170C>T p.S1390= Synonymous 18/20 - 3
1-27100889-G-A c.4171G>A p.V1391M Missense 18/20 - 5
1-27100889-G-C c.4171G>C p.V1391L Missense 18/20 - 2
1-27100889-G-T c.4171G>T p.V1391L Missense 18/20 - 2
1-27100892-C-T c.4174C>T p.P1392S Missense 18/20 - 2
1-27100891-GC-G c.4175del p.P1392Hfs*89 Frameshift 18/20 - 1
1-27100893-C-T c.4175C>T p.P1392L Missense 18/20 - 1
1-27100896-A-C c.4178A>C p.Y1393S Missense 18/20 - 1
1-27100897-C-A c.4179C>A p.Y1393* Nonsense 18/20 - 1
1-27100897-C-G c.4179C>G p.Y1393* Nonsense 18/20 - 1
1-27100898-AGC-TGG c.4180_4182delinsTGG p.S1394W Missense 18/20 - 1
1-27100898-A-T c.4180A>T p.S1394C Missense 18/20 - 2
1-27100899-G-A c.4181G>A p.S1394N Missense 18/20 - 5
1-27100900-C-CG c.4182_4183insG p.T1395Dfs*50 Frameshift 18/20 - 1
1-27100901-A-G c.4183A>G p.T1395A Missense 18/20 - 1
1-27100901-A-T c.4183A>T p.T1395S Missense 18/20 - 1
1-27100902-CT-TG c.4184_4185delinsTG p.T1395M Missense 18/20 - 2
1-27100903-CTGGGCAGGGGCAG-C c.4185_4197del p.G1396Lfs*81 Frameshift 18/20 - 1
1-27100904-G-T c.4186G>T p.G1396W Missense 18/20 - 1
1-27100903-TGG-T c.4187_4188del p.G1396Afs*48 Frameshift 18/20 - 1
1-27100903-TG-T c.4188del p.Q1397Rfs*84 Frameshift 18/20 - 1
1-27100907-C-T c.4189C>T p.Q1397* Nonsense 18/20 - 4
1-27100910-G-A c.4192G>A p.G1398R Missense 18/20 - 1
1-27100910-G-C c.4192G>C p.G1398R Missense 18/20 - 1
1-27100910-G-T c.4192G>T p.G1398W Missense 18/20 - 1
1-27100911-G-A c.4193G>A p.G1398E Missense 18/20 - 2
1-27100908-AG-A c.4194del p.Q1399Sfs*82 Frameshift 18/20 - 1
1-27100913-C-T c.4195C>T p.Q1399* Nonsense 18/20 - 4
1-27100914-A-C c.4196A>C p.Q1399P Missense 18/20 - 5
1-27100914-A-G c.4196A>G p.Q1399R Missense 18/20 - 2
1-27100914-A-T c.4196A>T p.Q1399L Missense 18/20 - 3
1-27100915-G-C c.4197G>C p.Q1399H Missense 18/20 - 1
1-27100915-G-T c.4197G>T p.Q1399H Missense 18/20 - 1
1-27100916-C-T c.4198C>T p.P1400S Missense 18/20 - 2
1-27100917-C-G c.4199C>G p.P1400R Missense 18/20 - 1
1-27100918-T-A c.4200T>A p.P1400= Synonymous 18/20 - 2
1-27100918-T-C c.4200T>C p.P1400= Synonymous 18/20 - 4
1-27100918-T-G c.4200T>G p.P1400= Synonymous 18/20 - 2
1-27100919-C-A c.4201C>A p.Q1401K Missense 18/20 - 1
1-27100919-C-T c.4201C>T p.Q1401* Nonsense 18/20 - 20
1-27100920-A-C c.4202A>C p.Q1401P Missense 18/20 - 1
1-27100920-CA-C c.4202del p.Q1401Rfs*80 Frameshift 18/20 - 1
1-27100920-CAG-C c.4202_4203del p.Q1401Pfs*43 Frameshift 18/20 - 1
1-27100922-C-T c.4204C>T p.Q1402* Nonsense 18/20 - 5
1-27100922-C-CA c.4205dup p.Q1403Afs*42 Frameshift 18/20 - 1
1-27100923-A-T c.4205A>T p.Q1402L Missense 18/20 - 1
1-27100924-G-A c.4206G>A p.Q1402= Synonymous 18/20 - 1
1-27100924-G-C c.4206G>C p.Q1402H Missense 18/20 - 1
1-27100924-G-T c.4206G>T p.Q1402H Missense 18/20 - 1
1-27100925-C-T c.4207C>T p.Q1403* Nonsense 18/20 - 8
1-27100926-A-T c.4208A>T p.Q1403L Missense 18/20 - 3
1-27100927-G-A c.4209G>A p.Q1403= Synonymous 18/20 - 1
1-27100918-TCAG-T c.4210_4212del p.Q1404del InFrameDeletion 18/20 - 1
1-27100928-C-T c.4210C>T p.Q1404* Nonsense 18/20 - 7
1-27100934-C-A c.4216C>A p.P1406T Missense 18/20 - 1
1-27100934-C-G c.4216C>G p.P1406A Missense 18/20 - 1
1-27100935-CCCCCA-C c.4217_4221del p.P1406Rfs*37 Frameshift 18/20 - 4
1-27100935-C-G c.4217C>G p.P1406R Missense 18/20 - 1
1-27100935-C-T c.4217C>T p.P1406L Missense 18/20 - 1
1-27100937-C-G c.4219C>G p.P1407A Missense 18/20 - 1
1-27100933-GC-G c.4220del p.P1407Qfs*74 Frameshift 18/20 - 7
1-27100938-C-T c.4220C>T p.P1407L Missense 18/20 - 1
1-27100939-A-C c.4221A>C p.P1407= Synonymous 18/20 - 1
1-27100939-A-G c.4221A>G p.P1407= Synonymous 18/20 - 1
1-27100939-A-T c.4221A>T p.P1407= Synonymous 18/20 - 2
1-27100940-G-C c.4222G>C p.A1408P Missense 18/20 - 1
1-27100941-C-T c.4223C>T p.A1408V Missense 18/20 - 3
1-27100934-CCCCCAGCCCAG-C c.4225_4235del p.Q1409Cfs*32 Frameshift 18/20 - 2
1-27100936-CCCAGCCCAGCCCCAGCCTG-C c.4225_4243del p.Q1409Sfs*66 Frameshift 18/20 - 1
1-27100943-C-T c.4225C>T p.Q1409* Nonsense 18/20 - 9
1-27100944-A-C c.4226A>C p.Q1409P Missense 18/20 - 1
1-27100945-G-C c.4227G>C p.Q1409H Missense 18/20 - 1
1-27100945-G-T c.4227G>T p.Q1409H Missense 18/20 - 1
1-27100946-C-G c.4228C>G p.P1410A Missense 18/20 - 4
1-27100946-C-T c.4228C>T p.P1410S Missense 18/20 - 3
1-27100945-GCCCCAGCCTGC-G c.4229_4239del p.P1410Qfs*31 Frameshift 18/20 - 1
1-27100947-C-T c.4229C>T p.P1410L Missense 18/20 - 1
1-27100949-C-T c.4231C>T p.Q1411* Nonsense 18/20 - 6
1-27100950-A-C c.4232A>C p.Q1411P Missense 18/20 - 1
1-27100951-G-A c.4233G>A p.Q1411= Synonymous 18/20 - 1
1-27100951-G-T c.4233G>T p.Q1411H Missense 18/20 - 1
1-27100952-C-A c.4234C>A p.P1412T Missense 18/20 - 1
1-27100952-C-T c.4234C>T p.P1412S Missense 18/20 - 1
1-27100953-C-A c.4235C>A p.P1412H Missense 18/20 - 1
1-27100953-C-T c.4235C>T p.P1412L Missense 18/20 - 1
1-27100954-T-A c.4236T>A p.P1412= Synonymous 18/20 - 1
1-27100954-T-C c.4236T>C p.P1412= Synonymous 18/20 - 1
1-27100954-T-G c.4236T>G p.P1412= Synonymous 18/20 - 1
1-27100955-G-A c.4237G>A p.A1413T Missense 18/20 - 1
1-27100956-C-T c.4238C>T p.A1413V Missense 18/20 - 5
1-27100956-CCAG-C c.4240_4242del p.S1414del InFrameDeletion 18/20 - 1
1-27100959-G-C c.4241G>C p.S1414T Missense 18/20 - 1
1-27100959-GCCAGCAA-G c.4243_4249del p.Q1415Kfs*64 Frameshift 18/20 - 1
1-27100959-G-GC c.4243dup p.Q1415Pfs*30 Frameshift 18/20 - 1
1-27100960-C-CCCAG c.4243_4244insCAGC p.Q1415Pfs*31 Frameshift 18/20 - 1
1-27100961-C-T c.4243C>T p.Q1415* Nonsense 18/20 - 2
1-27100962-A-C c.4244A>C p.Q1415P Missense 18/20 - 3
1-27100962-A-T c.4244A>T p.Q1415L Missense 18/20 - 1
1-27100963-G-C c.4245G>C p.Q1415H Missense 18/20 - 1
1-27100963-G-T c.4245G>T p.Q1415H Missense 18/20 - 2
1-27100964-GC-G c.4246del p.Q1416Nfs*65 Frameshift 18/20 - 1
1-27100965-A-C c.4247A>C p.Q1416P Missense 18/20 - 1
1-27100967-C-T c.4249C>T p.Q1417* Nonsense 18/20 - 2
1-27100967-CA-C c.4251del p.A1418Lfs*63 Frameshift 18/20 - 1
1-27100970-G-A c.4252G>A p.A1418T Missense 18/20 - 3
1-27100970-G-C c.4252G>C p.A1418P Missense 18/20 - 1
1-27100971-C-G c.4253C>G p.A1418G Missense 18/20 - 3
1-27100973-G-A c.4255G>A p.A1419T Missense 18/20 - 4
1-27100973-G-T c.4255G>T p.A1419S Missense 18/20 - 1
1-27100973-GC-G c.4258del p.Q1420Sfs*61 Frameshift 18/20 - 1
1-27100976-C-T c.4258C>T p.Q1420* Nonsense 18/20 - 5
1-27100976-C-CA c.4259dup p.P1421Afs*24 Frameshift 18/20 - 1
1-27100977-A-C c.4259A>C p.Q1420P Missense 18/20 - 1
1-27100977-A-T c.4259A>T p.Q1420L Missense 18/20 - 1
1-27100978-G-C c.4260G>C p.Q1420H Missense 18/20 - 1
1-27100978-G-T c.4260G>T p.Q1420H Missense 18/20 - 1
1-27100978-GCCTTCCC-G c.4262_4268del p.P1421Lfs*58 Frameshift 18/20 - 1
1-27100980-C-T c.4262C>T p.P1421L Missense 18/20 - 2
1-27100982-TTCCCCTCAGCAAGATGTATACAA-T c.4264_4286del p.S1422Pfs*15 Frameshift 18/20 - 1
1-27100983-C-T c.4265C>T p.S1422F Missense 18/20 - 2
1-27100984-C-A c.4266C>A p.S1422= Synonymous 18/20 - 1
1-27100984-C-G c.4266C>G p.S1422= Synonymous 18/20 - 1
1-27100984-C-T c.4266C>T p.S1422= Synonymous 18/20 - 3
1-27100982-TC-T c.4268del p.P1423Lfs*58 Frameshift 18/20 - 3
1-27100982-T-TC c.4268dup p.Q1424Sfs*21 Frameshift 18/20 - 3
1-27100986-C-CT c.4269dup p.Q1424Sfs*21 Frameshift 18/20 - 1
1-27100988-C-A c.4270C>A p.Q1424K Missense 18/20 - 1
1-27100988-C-G c.4270C>G p.Q1424E Missense 18/20 - 2
1-27100988-C-T c.4270C>T p.Q1424* Nonsense 18/20 - 22
1-27100989-A-G c.4271A>G p.Q1424R Missense 18/20 - 1
1-27100990-AGCAAGATGTATACAACCAGTATGGCAATGCCTATCCTGCC-A c.4272_4311del p.Q1425Lfs*43 Frameshift 18/20 - 1
1-27100991-C-T c.4273C>T p.Q1425* Nonsense 18/20 - 3
1-27100992-A-G c.4274A>G p.Q1425R Missense 18/20 - 3
1-27100994-G-A c.4276G>A p.D1426N Missense 18/20 - 2
1-27100995-A-G c.4277A>G p.D1426G Missense 18/20 - 2
1-27100995-A-T c.4277A>T p.D1426V Missense 18/20 - 2
1-27100996-AT-A c.4278del p.D1426Efs*55 Frameshift 18/20 - 1
1-27100996-T-C c.4278T>C p.D1426= Synonymous 18/20 - 1
1-27100997-G-C c.4279G>C p.V1427L Missense 18/20 - 1
1-27100997-G-T c.4279G>T p.V1427L Missense 18/20 - 1
1-27100999-TATACAACCAGTATGGCAATG-T c.4281_4300del p.Y1428Lfs*10 Frameshift 18/20 - 1
1-27101000-T-C c.4282T>C p.Y1428H Missense 18/20 - 2
1-27101000-T-G c.4282T>G p.Y1428D Missense 18/20 - 1
1-27101001-A-G c.4283A>G p.Y1428C Missense 18/20 - 1
1-27101002-C-A c.4284C>A p.Y1428* Nonsense 18/20 - 2
1-27101002-C-G c.4284C>G p.Y1428* Nonsense 18/20 - 2
1-27101004-AC-A c.4288del p.Q1430Sfs*51 Frameshift 18/20 - 1
1-27101006-C-T c.4288C>T p.Q1430* Nonsense 18/20 - 10
1-27101008-G-T c.4290G>T p.Q1430H Missense 18/20 - 1
1-27101010-A-T c.4292A>T p.Y1431F Missense 18/20 - 1
1-27101011-T-A c.4293T>A p.Y1431* Nonsense 18/20 - 1
1-27101011-T-G c.4293T>G p.Y1431* Nonsense 18/20 - 1
1-27101012-G-A c.4294G>A p.G1432S Missense 18/20 - 3
1-27101013-G-A c.4295G>A p.G1432D Missense 18/20 - 1
1-27101013-G-T c.4295G>T p.G1432V Missense 18/20 - 1
1-27101011-TGGCAATGCCTATCCTGCCACTGCCACAGCTGCTACTGAGCGCCGACCAGCA-T c.4297_4347del p.N1433_G1449del InFrameDeletion 18/20 - 1
1-27101013-GCAATGCCTATCCTGC-G c.4298_4312del p.N1433_A1437del InFrameDeletion 18/20 - 1
1-27101016-A-G c.4298A>G p.N1433S Missense 18/20 - 2
1-27101019-C-A c.4301C>A p.A1434D Missense 18/20 - 1
1-27101019-C-T c.4301C>T p.A1434V Missense 18/20 - 3
1-27101020-C-A c.4302C>A p.A1434= Synonymous 18/20 - 1
1-27101020-C-G c.4302C>G p.A1434= Synonymous 18/20 - 2
1-27101020-C-T c.4302C>T p.A1434= Synonymous 18/20 - 1
1-27101022-A-G c.4304A>G p.Y1435C Missense 18/20 - 7
1-27101024-C-T c.4306C>T p.P1436S Missense 18/20 - 8
1-27101025-C-A c.4307C>A p.P1436H Missense 18/20 - 1
1-27101025-C-T c.4307C>T p.P1436L Missense 18/20 - 3
1-27101027-G-A c.4309G>A p.A1437T Missense 18/20 - 1
1-27101028-C-A c.4310C>A p.A1437D Missense 18/20 - 1
1-27101028-CCACTGCCACAGCTG-C c.4312_4325del p.T1438Yfs*2 Frameshift 18/20 - 1
1-27101030-A-C c.4312A>C p.T1438P Missense 18/20 - 2
1-27101030-A-T c.4312A>T p.T1438S Missense 18/20 - 2
1-27101031-C-A c.4313C>A p.T1438N Missense 18/20 - 1
1-27101032-T-A c.4314T>A p.T1438= Synonymous 18/20 - 1
1-27101033-G-A c.4315G>A p.A1439T Missense 18/20 - 3
1-27101032-TGCCACAGCTGCTACTGAGCGCCGACCAGCAGGCGGCCCCCA-T c.4316_4356del p.A1439Efs*38 Frameshift 18/20 - 1
1-27101034-C-G c.4316C>G p.A1439G Missense 18/20 - 1
1-27101034-C-T c.4316C>T p.A1439V Missense 18/20 - 1
1-27101037-AC-A c.4319del p.T1440Kfs*41 Frameshift 18/20 - 1
1-27101043-C-A c.4325C>A p.A1442D Missense 18/20 - 1
1-27101043-C-G c.4325C>G p.A1442G Missense 18/20 - 3
1-27101045-TA-T c.4327del p.T1443Lfs*38 Frameshift 18/20 - 1
1-27101045-A-T c.4327A>T p.T1443S Missense 18/20 - 1
1-27101046-C-CA c.4328_4329insA p.E1444* Nonsense 18/20 - 2
1-27101046-C-G c.4328C>G p.T1443S Missense 18/20 - 1
1-27101048-G-C c.4330G>C p.E1444Q Missense 18/20 - 4
1-27101048-G-T c.4330G>T p.E1444* Nonsense 18/20 - 6
1-27101047-TGAGCGCC-T c.4332_4338del p.E1444Dfs*35 Frameshift 18/20 - 1
1-27101050-G-T c.4332G>T p.E1444D Missense 18/20 - 3
1-27101051-C-T c.4333C>T p.R1445C Missense 18/20 - 4
1-27101052-G-A c.4334G>A p.R1445H Missense 18/20 - 3
1-27101052-G-C c.4334G>C p.R1445P Missense 18/20 - 1
1-27101053-CC-AT c.4335_4336delinsAT p.R1446* Missense 18/20 - 1
1-27101052-GC-G c.4336del p.R1446Dfs*35 Frameshift 18/20 - 1
1-27101054-C-G c.4336C>G p.R1446G Missense 18/20 - 1
1-27101054-CGA-TGT c.4336_4338delinsTGT p.R1446C Missense 18/20 - 1
1-27101054-C-T c.4336C>T p.R1446* Nonsense 18/20 - 39
1-27101055-G-A c.4337G>A p.R1446Q Missense 18/20 - 8
1-27101055-G-C c.4337G>C p.R1446P Missense 18/20 - 1
1-27101057-C-G c.4339C>G p.P1447A Missense 18/20 - 2
1-27101057-C-T c.4339C>T p.P1447S Missense 18/20 - 3
1-27101058-C-T c.4340C>T p.P1447L Missense 18/20 - 3
1-27101060-G-A c.4342G>A p.A1448T Missense 18/20 - 1
1-27101061-C-T c.4343C>T p.A1448V Missense 18/20 - 1
1-27101063-G-C c.4345G>C p.G1449R Missense 18/20 - 1
1-27101063-G-T c.4345G>T p.G1449C Missense 18/20 - 1
1-27101064-G-T c.4346G>T p.G1449V Missense 18/20 - 1
1-27101065-C-A c.4347C>A p.G1449= Synonymous 18/20 - 1
1-27101065-C-T c.4347C>T p.G1449= Synonymous 18/20 - 1
1-27101066-G-A c.4348G>A p.G1450S Missense 18/20 - 8
1-27101066-G-T c.4348G>T p.G1450C Missense 18/20 - 1
1-27101069-C-A c.4351C>A p.P1451T Missense 18/20 - 1
1-27101070-C-A c.4352C>A p.P1451H Missense 18/20 - 1
1-27101070-C-T c.4352C>T p.P1451L Missense 18/20 - 3
1-27101067-GC-G c.4354del p.Q1452Rfs*29 Frameshift 18/20 - 7
1-27101072-C-T c.4354C>T p.Q1452* Nonsense 18/20 - 3
1-27101073-A-G c.4355A>G p.Q1452R Missense 18/20 - 1
1-27101073-CA-C c.4355del p.Q1452Rfs*29 Frameshift 18/20 - 1
1-27101074-G-C c.4356G>C p.Q1452H Missense 18/20 - 1
1-27101074-G-T c.4356G>T p.Q1452H Missense 18/20 - 2
1-27101078-C-T c.4360C>T p.Q1454* Nonsense 18/20 - 3
1-27101082-T-G c.4364T>G p.F1455C Missense 18/20 - 2
1-27101080-A-AT c.4365dup p.P1456Sfs*35 Frameshift 18/20 - 1
1-27101080-AT-A c.4365del p.P1456Hfs*25 Frameshift 18/20 - 1
1-27101084-C-T c.4366C>T p.P1456S Missense 18/20 - 7
1-27101085-C-G c.4367C>G p.P1456R Missense 18/20 - 1
1-27101085-C-T c.4367C>T p.P1456L Missense 18/20 - 3
1-27101086-A-G c.4368A>G p.P1456= Synonymous 18/20 - 1
1-27101087-T-C c.4369T>C p.F1457L Missense 18/20 - 4
1-27101089-C-A c.4371C>A p.F1457L Missense 18/20 - 4
1-27101088-T-C c.4370T>C p.F1457S Missense 18/20 - 3
1-27101089-CC-TT c.4371_4372delinsTT p.Q1458* Missense 18/20 - 1
1-27101089-C-G c.4371C>G p.F1457L Missense 18/20 - 5
1-27101090-C-T c.4372C>T p.Q1458* Nonsense 18/20 - 10
1-27101091-A-G c.4373A>G p.Q1458R Missense 18/20 - 1
1-27101091-A-T c.4373A>T p.Q1458L Missense 18/20 - 1
1-27101093-T-C c.4375T>C p.F1459L Missense 18/20 - 1
1-27101095-T-A c.4377T>A p.F1459L Missense 18/20 - 1
1-27101095-T-G c.4377T>G p.F1459L Missense 18/20 - 1
1-27101094-T-A c.4376T>A p.F1459Y Missense 18/20 - 1
1-27101096-G-A c.4378G>A p.G1460S Missense 18/20 - 1
1-27101097-G-A c.4379G>A p.G1460D Missense 18/20 - 1
1-27101097-G-C c.4379G>C p.G1460A Missense 18/20 - 3
1-27101097-GGCCGAGACCGTGTCTCTGCACCCCCTGGCACCAATGCCC-G c.4379_4417del p.G1460_Q1473delinsE MultiAAMissense 18/20 - 1
1-27101098-C-A c.4380C>A p.G1460= Synonymous 18/20 - 2
1-27101098-C-G c.4380C>G p.G1460= Synonymous 18/20 - 2
1-27101098-C-T c.4380C>T p.G1460= Synonymous 18/20 - 5
1-27101099-C-T c.4381C>T p.R1461* Nonsense 18/20 - 31
1-27101100-G-A c.4382G>A p.R1461Q Missense 18/20 - 7
1-27101102-G-A c.4384G>A p.D1462N Missense 18/20 - 1
1-27101103-A-C c.4385A>C p.D1462A Missense 18/20 - 1
1-27101104-C-A c.4386C>A p.D1462E Missense 18/20 - 1
1-27101104-C-G c.4386C>G p.D1462E Missense 18/20 - 1
1-27101105-C-G c.4387C>G p.R1463G Missense 18/20 - 1
1-27101105-C-T c.4387C>T p.R1463C Missense 18/20 - 5
1-27101105-C-CG c.4388dup p.V1464Cfs*27 Frameshift 18/20 - 1
1-27101106-G-A c.4388G>A p.R1463H Missense 18/20 - 7
1-27101107-T-A c.4389T>A p.R1463= Synonymous 18/20 - 1
1-27101107-T-G c.4389T>G p.R1463= Synonymous 18/20 - 1
1-27101108-G-GT c.4391dup p.S1465Lfs*26 Frameshift 18/20 - 2
1-27101109-T-A c.4391T>A p.V1464D Missense 18/20 - 5
1-27101110-C-CG c.4392_4393insG p.S1465Vfs*26 Frameshift 18/20 - 1
1-27101110-C-T c.4392C>T p.V1464= Synonymous 18/20 - 1
1-27101108-GTC-G c.4394_4395del p.S1465Cfs*25 Frameshift 18/20 - 2
1-27101112-C-G c.4394C>G p.S1465C Missense 18/20 - 1
1-27101112-C-CT c.4395dup p.A1466Cfs*25 Frameshift 18/20 - 1
1-27101114-G-A c.4396G>A p.A1466T Missense 18/20 - 1
1-27101114-G-C c.4396G>C p.A1466P Missense 18/20 - 1
1-27101114-GC-TA c.4396_4397delinsTA p.A1466* Nonsense 18/20 - 1
1-27101115-C-T c.4397C>T p.A1466V Missense 18/20 - 1
1-27101117-C-T c.4399C>T p.P1467S Missense 18/20 - 1
1-27101118-C-G c.4400C>G p.P1467R Missense 18/20 - 3
1-27101119-C-A c.4401C>A p.P1467= Synonymous 18/20 - 3
1-27101119-C-G c.4401C>G p.P1467= Synonymous 18/20 - 3
1-27101119-C-T c.4401C>T p.P1467= Synonymous 18/20 - 5
1-27101120-C-A c.4402C>A p.P1468T Missense 18/20 - 1
1-27101120-C-G c.4402C>G p.P1468A Missense 18/20 - 2
1-27101120-C-T c.4402C>T p.P1468S Missense 18/20 - 3
1-27101116-A-AC c.4403dup p.G1469Wfs*22 Frameshift 18/20 - 1
1-27101116-AC-A c.4403del p.P1468Lfs*13 Frameshift 18/20 - 9
1-27101121-C-T c.4403C>T p.P1468L Missense 18/20 - 1
1-27101121-C-CT c.4404dup p.G1469Wfs*22 Frameshift 18/20 - 1
1-27101122-CT-C c.4404del p.G1469Afs*12 Frameshift 18/20 - 1
1-27101123-G-A c.4405G>A p.G1469S Missense 18/20 - 2
1-27101124-G-A c.4406G>A p.G1469D Missense 18/20 - 2
1-27101125-CA-TT c.4407_4408delinsTT p.T1470S Missense 18/20 - 1
1-27101126-A-T c.4408A>T p.T1470S Missense 18/20 - 3
1-27101127-ACCAAT-A c.4409_4413del p.T1470Sfs*19 Frameshift 18/20 - 1
1-27101127-C-G c.4409C>G p.T1470S Missense 18/20 - 3
1-27101126-AC-A c.4410del p.N1471Mfs*10 Frameshift 18/20 - 1
1-27101129-A-G c.4411A>G p.N1471D Missense 18/20 - 1
1-27101128-C-CA c.4412dup p.N1471Kfs*20 Frameshift 18/20 - 3
1-27101130-A-C c.4412A>C p.N1471T Missense 18/20 - 3
1-27101130-A-G c.4412A>G p.N1471S Missense 18/20 - 5
1-27101130-A-T c.4412A>T p.N1471I Missense 18/20 - 1
1-27101133-C-T c.4415C>T p.A1472V Missense 18/20 - 2
1-27101134-CC-TT c.4416_4417delinsTT p.Q1473* Missense 18/20 - 1
1-27101135-C-T c.4417C>T p.Q1473* Nonsense 18/20 - 9
1-27101138-C-G c.4420C>G p.Q1474E Missense 18/20 - 1
1-27101138-C-T c.4420C>T p.Q1474* Nonsense 18/20 - 6
1-27101140-A-G c.4422A>G p.Q1474= Synonymous 18/20 - 1
1-27101138-CA-C c.4424del p.N1475Tfs*6 Frameshift 18/20 - 2
1-27101142-A-C c.4424A>C p.N1475T Missense 18/20 - 5
1-27101143-AC-A c.4425del p.N1475Kfs*6 Frameshift 18/20 - 1
1-27101144-A-AT c.4427dup p.M1476Ifs*15 Frameshift 18/20 - 1
1-27101145-AT-A c.4427del p.M1476Sfs*5 Frameshift 18/20 - 2
1-27101147-C-T c.4429C>T p.P1477S Missense 18/20 - 2
1-27101148-C-T c.4430C>T p.P1477L Missense 18/20 - 2
1-27101150-C-G c.4432C>G p.P1478A Missense 18/20 - 1
1-27101150-C-T c.4432C>T p.P1478S Missense 18/20 - 3
1-27101153-C-T c.4435C>T p.Q1479* Nonsense 18/20 - 1
1-27101154-A-C c.4436A>C p.Q1479P Missense 18/20 - 1
1-27101154-A-G c.4436A>G p.Q1479R Missense 18/20 - 1
1-27101154-CAAA-C c.4436_4438del p.Q1479_M1480delinsL MultiAAMissense 18/20 - 1
1-27101157-T-C c.4439T>C p.M1480T Missense 18/20 - 1
1-27101158-G-A c.4440G>A p.M1480I Missense 18/20 - 1
1-27101158-G-C c.4440G>C p.M1480I Missense 18/20 - 1
1-27101159-A-G c.4441A>G p.M1481V Missense 18/20 - 1
1-27101161-G-A c.4443G>A p.M1481I Missense 18/20 - 1
1-27101161-G-C c.4443G>C p.M1481I Missense 18/20 - 1
1-27101161-G-T c.4443G>T p.M1481I Missense 18/20 - 1
1-27101162-G-C c.4444G>C p.G1482R Missense 18/20 - 1
1-27101164-C-A c.4446C>A p.G1482= Synonymous 18/20 - 1
1-27101164-C-G c.4446C>G p.G1482= Synonymous 18/20 - 1
1-27101164-C-T c.4446C>T p.G1482= Synonymous 18/20 - 2
1-27101165-G-A c.4447G>A p.G1483S Missense 18/20 - 3
1-27101166-G-A c.4448G>A p.G1483D Missense 18/20 - 1
1-27101166-G-T c.4448G>T p.G1483V Missense 18/20 - 1
1-27101167-C-A c.4449C>A p.G1483= Synonymous 18/20 - 1
1-27101167-C-G c.4449C>G p.G1483= Synonymous 18/20 - 2
1-27101167-C-T c.4449C>T p.G1483= Synonymous 18/20 - 1
1-27101168-CCCCAT-C c.4450_4454del p.P1484Tfs*5 Frameshift 18/20 - 1
1-27101168-C-T c.4450C>T p.P1484S Missense 18/20 - 1
1-27101169-C-T c.4451C>T p.P1484L Missense 18/20 - 4
1-27101169-CCATA-C c.4454_4457del p.I1485Rfs*19 Frameshift 18/20 - 1
1-27101173-A-C c.4455A>C p.I1485= Synonymous 18/20 - 1
1-27101173-A-G c.4455A>G p.I1485M Missense 18/20 - 3
1-27101173-A-T c.4455A>T p.I1485= Synonymous 18/20 - 1
1-27101174-AC-A c.4456del p.Q1486Rfs*19 Frameshift 18/20 - 1
1-27101174-C-A c.4456C>A p.Q1486K Missense 18/20 - 1
1-27101174-C-T c.4456C>T p.Q1486* Nonsense 18/20 - 3
1-27101175-A-C c.4457A>C p.Q1486P Missense 18/20 - 1
1-27101175-A-G c.4457A>G p.Q1486R Missense 18/20 - 1
1-27101176-G-A c.4458G>A p.Q1486= Synonymous 18/20 - 1
1-27101178-C-T c.4460C>T p.A1487V Missense 18/20 - 3
1-27101179-A-C c.4461A>C p.A1487= Synonymous 18/20 - 1
1-27101179-A-G c.4461A>G p.A1487= Synonymous 18/20 - 1
1-27101179-A-T c.4461A>T p.A1487= Synonymous 18/20 - 1
1-27101180-T-C c.4462T>C p.S1488P Missense 18/20 - 1
1-27101180-T-G c.4462T>G p.S1488A Missense 18/20 - 1
1-27101181-C-G c.4463C>G p.S1488* Nonsense 18/20 - 1
1-27101181-C-T c.4463C>T p.S1488L Missense 18/20 - 6
1-27101182-A-C c.4464A>C p.S1488= Synonymous 18/20 - 1
1-27101182-A-G c.4464A>G p.S1488= Synonymous 18/20 - 1
1-27101182-A-T c.4464A>T p.S1488= Synonymous 18/20 - 1
1-27101180-TCAGCTGAGGTTGCTCAGCAAGGCAC-T c.4465_4489del p.A1489Cfs*8 Frameshift 18/20 - 1
1-27101183-G-A c.4465G>A p.A1489T Missense 18/20 - 1
1-27101184-C-A c.4466C>A p.A1489D Missense 18/20 - 1
1-27101184-C-T c.4466C>T p.A1489V Missense 18/20 - 2
1-27101186-G-A c.4468G>A p.E1490K Missense 18/20 - 3
1-27101186-G-T c.4468G>T p.E1490* Nonsense 18/20 - 5
1-27101190-T-C c.4472T>C p.V1491A Missense 18/20 - 1
1-27101192-G-A c.4474G>A p.A1492T Missense 18/20 - 2
1-27101193-C-A c.4475C>A p.A1492D Missense 18/20 - 1
1-27101194-T-G c.4476T>G p.A1492= Synonymous 18/20 - 1
1-27101195-C-A c.4477C>A p.Q1493K Missense 18/20 - 1
1-27101195-C-T c.4477C>T p.Q1493* Nonsense 18/20 - 21
1-27101194-TCAGCAAGGCAC-T c.4479_4489del p.Q1493Hfs*6 Frameshift 18/20 - 1
1-27101198-C-A c.4480C>A p.Q1494K Missense 18/20 - 1
1-27101198-C-T c.4480C>T p.Q1494* Nonsense 18/20 - 5
1-27101200-A-G c.4482A>G p.Q1494= Synonymous 18/20 - 1
1-27101201-G-A c.4483G>A p.G1495S Missense 18/20 - 1
1-27101204-A-G c.4486A>G p.T1496A Missense 18/20 - 1
1-27101205-C-A c.4487C>A p.T1496N Missense 18/20 - 1
1-27101205-C-T c.4487C>T p.T1496I Missense 18/20 - 1
1-27101206-CCA-C c.4488_4489del p.M1497Vfs*5 Frameshift 18/20 - 1
1-27101206-C-T c.4488C>T p.T1496= Synonymous 18/20 - 1
1-27101207-A-G c.4489A>G p.M1497V Missense 18/20 - 1
1-27101208-T-C c.4490T>C p.M1497T Missense 18/20 - 2
1-27101209-G-A c.4491G>A p.M1497I Missense 18/20 - 1
1-27101209-TGTGGC-T c.4491_4495del p.M1497Ifs*4 Frameshift 18/20 - 1
1-27101211-G-A c.4493G>A p.W1498* Nonsense 18/20 - 8
1-27101212-G-A c.4494G>A p.W1498* Nonsense 18/20 - 7
1-27101212-G-C c.4494G>C p.W1498C Missense 18/20 - 1
1-27101212-G-T c.4494G>T p.W1498C Missense 18/20 - 1
1-27101213-C-T c.4495C>T p.Q1499* Nonsense 18/20 - 7
1-27101214-A-C c.4496A>C p.Q1499P Missense 18/20 - 1
1-27101214-A-G c.4496A>G p.Q1499R Missense 18/20 - 1
1-27101216-G-A c.4498G>A p.G1500R Missense 18/20 - 1
1-27101216-G-C c.4498G>C p.G1500R Missense 18/20 - 1
1-27101217-G-A c.4499G>A p.G1500E Missense 18/20 - 2
1-27101217-G-T c.4499G>T p.G1500V Missense 18/20 - 5
1-27101214-A-AG c.4500dup p.R1501Afs*2 Frameshift 18/20 - 3
1-27101219-C-T c.4501C>T p.R1501C Missense 18/20 - 8
1-27101220-G-A c.4502G>A p.R1501H Missense 18/20 - 6
1-27101220-G-T c.4502G>T p.R1501L Missense 18/20 - 1
1-27101220-GT-AA c.4502_4503delinsAA p.R1501Q Missense 18/20 - 2
1-27101221-T-A c.4503T>A p.R1501= Synonymous 18/20 - 3
1-27101223-A-AT c.4506dup p.D1503* Nonsense 18/20 - 1
1-27101225-G-A c.4507G>A p.D1503N Missense 18/20 - 1
1-27101225-G-C c.4507G>C p.D1503H Missense 18/20 - 2
1-27101227-C-A c.4509C>A p.D1503E Missense 18/20 - 2
1-27101227-C-G c.4509C>G p.D1503E Missense 18/20 - 1
1-27101230-G-A c.4512G>A p.M1504I Missense 18/20 - 3
1-27101230-G-C c.4512G>C p.M1504I Missense 18/20 - 1
1-27101230-G-T c.4512G>T p.M1504I Missense 18/20 - 1
1-27101231-A-G c.4513A>G p.T1505A Missense 18/20 - 4
1-27101232-CC-TG c.4514_4515delinsTG p.T1505M Missense 18/20 - 1
1-27101232-C-T c.4514C>T p.T1505I Missense 18/20 - 1
1-27101233-C-CT c.4516dup p.Y1506Lfs*2 Frameshift 18/20 - 2
1-27101235-A-G c.4517A>G p.Y1506C Missense 18/20 - 2
1-27101236-T-C c.4518T>C p.Y1506= Synonymous 18/20 - 2
1-27101236-T-G c.4518T>G p.Y1506* Nonsense 18/20 - 1
1-27101237-A-C c.4519A>C p.N1507H Missense 18/20 - 1
1-27101237-A-G c.4519A>G p.N1507D Missense 18/20 - 1
1-27101239-T-G c.4521T>G p.N1507K Missense 18/20 - 1
1-27101240-T-TA c.4523dup p.Y1508* Nonsense 18/20 - 1
1-27101241-A-G c.4523A>G p.Y1508C Missense 18/20 - 6
1-27101242-T-A c.4524T>A p.Y1508* Nonsense 18/20 - 3
1-27101242-T-G c.4524T>G p.Y1508* Nonsense 18/20 - 1
1-27101243-G-A c.4525G>A p.A1509T Missense 18/20 - 1
1-27101243-G-T c.4525G>T p.A1509S Missense 18/20 - 3
1-27101244-C-T c.4526C>T p.A1509V Missense 18/20 - 1
1-27101247-A-G c.4529A>G p.N1510S Missense 18/20 - 1
1-27101248-C-T c.4530C>T p.N1510= Synonymous 18/20 - 2
1-27101249-A-G c.4531A>G p.R1511G Missense 18/20 - 1
1-27101250-G-A c.4532G>A p.R1511K Missense 18/20 - 8
1-27101249-A-C c.4531A>C p.R1511= Synonymous 18/20 - 1
1-27101249-AG-A c.4533del p.R1511Sfs*16 Frameshift 18/20 - 1
1-27101251-G-A c.4533G>A p.R1511= Synonymous 18/20 - 2
1-27101252-C-T c.4534C>T p.Q1512* Nonsense 18/20 - 7
1-27101252-GC-G c.4534del p.Q1512Rfs*15 Frameshift 18/20 - 2
1-27101254-G-C c.4536G>C p.Q1512H Missense 18/20 - 5
1-27101254-G-T c.4536G>T p.Q1512H Missense 18/20 - 7
1-27101255-A-G c.4537A>G p.S1513G Missense 18/20 - 2
1-27101256-G-A c.4538G>A p.S1513N Missense 18/20 - 7
1-27101255-AGCACGGGCTCT-A c.4540_4550del p.T1514Pfs*14 Frameshift 18/20 - 2
1-27101258-A-C c.4540A>C p.T1514P Missense 18/20 - 2
1-27101258-A-G c.4540A>G p.T1514A Missense 18/20 - 1
1-27101256-GCACGGGCTCTGCCCCC-G c.4541_4556del p.T1514Rfs*8 Frameshift 18/20 - 1
1-27101259-AC-A c.4541del p.T1514Rfs*13 Frameshift 18/20 - 7
1-27101259-C-G c.4541C>G p.T1514R Missense 18/20 - 1
1-27101259-C-T c.4541C>T p.T1514M Missense 18/20 - 3
1-27101260-G-A c.4542G>A p.T1514= Synonymous 18/20 - 6
1-27101260-G-C c.4542G>C p.T1514= Synonymous 18/20 - 1
1-27101260-G-T c.4542G>T p.T1514= Synonymous 18/20 - 3
1-27101261-G-C c.4543G>C p.G1515R Missense 18/20 - 1
1-27101261-G-T c.4543G>T p.G1515C Missense 18/20 - 4
1-27101264-T-C c.4546T>C p.S1516P Missense 18/20 - 3
1-27101266-T-C c.4548T>C p.S1516= Synonymous 18/20 - 1
1-27101266-T-G c.4548T>G p.S1516= Synonymous 18/20 - 1
1-27101267-G-A c.4549G>A p.A1517T Missense 18/20 - 1
1-27101268-C-G c.4550C>G p.A1517G Missense 18/20 - 2
1-27101268-C-T c.4550C>T p.A1517V Missense 18/20 - 1
1-27101269-C-T c.4551C>T p.A1517= Synonymous 18/20 - 1
1-27101270-C-A c.4552C>A p.P1518T Missense 18/20 - 6
1-27101270-C-T c.4552C>T p.P1518S Missense 18/20 - 5
1-27101272-C-T c.4554C>T p.P1518= Synonymous 18/20 - 1
1-27101267-GC-G c.4555del p.Q1519Rfs*8 Frameshift 18/20 - 11
1-27101267-G-GC c.4555dup p.Q1519Pfs*13 Frameshift 18/20 - 13
1-27101273-C-T c.4555C>T p.Q1519* Nonsense 18/20 - 10
1-27101274-A-C c.4556A>C p.Q1519P Missense 18/20 - 2
1-27101274-CA-C c.4556del p.Q1519Rfs*8 Frameshift 18/20 - 3
1-27101275-G-C c.4557G>C p.Q1519H Missense 18/20 - 2
1-27101275-G-T c.4557G>T p.Q1519H Missense 18/20 - 1
1-27101277-G-A c.4559G>A p.G1520D Missense 18/20 - 4
1-27101278-C-T c.4560C>T p.G1520= Synonymous 18/20 - 3
1-27101279-C-T c.4561C>T p.P1521S Missense 18/20 - 1
1-27101280-C-T c.4562C>T p.P1521L Missense 18/20 - 2
1-27101277-GC-G c.4563del p.A1522Pfs*5 Frameshift 18/20 - 3
1-27101281-C-A c.4563C>A p.P1521= Synonymous 18/20 - 3
1-27101281-C-G c.4563C>G p.P1521= Synonymous 18/20 - 1
1-27101281-C-T c.4563C>T p.P1521= Synonymous 18/20 - 4
1-27101282-G-A c.4564G>A p.A1522T Missense 18/20 - 8
1-27101282-G-T c.4564G>T p.A1522S Missense 18/20 - 2
1-27101283-C-T c.4565C>T p.A1522V Missense 18/20 - 3
1-27101284-C-A c.4566C>A p.A1522= Synonymous 18/20 - 2
1-27101284-C-G c.4566C>G p.A1522= Synonymous 18/20 - 4
1-27101284-C-T c.4566C>T p.A1522= Synonymous 18/20 - 2
1-27101285-T-C c.4567T>C p.Y1523H Missense 18/20 - 1
1-27101284-CTATCATGGCG-C c.4568_4577del p.Y1523* Frameshift 18/20 - 1
1-27101286-A-G c.4568A>G p.Y1523C Missense 18/20 - 5
1-27101287-T-A c.4569T>A p.Y1523* Nonsense 18/20 - 1
1-27101287-T-C c.4569T>C p.Y1523= Synonymous 18/20 - 1
1-27101287-T-G c.4569T>G p.Y1523* Nonsense 18/20 - 1
1-27101288-C-T c.4570C>T p.H1524Y Missense 18/20 - 3
1-27101289-A-G c.4571A>G p.H1524R Missense 18/20 - 1
1-27101291-G-A c.4573G>A p.G1525S Missense 18/20 - 1
1-27101290-TG-T c.4574del p.G1525Afs*2 Frameshift 18/20 - 1
1-27101292-G-T c.4574G>T p.G1525V Missense 18/20 - 1
1-27101293-C-A c.4575C>A p.G1525= Synonymous 18/20 - 1
1-27101293-C-CT c.4575_4576insT p.V1526Cfs*6 Frameshift 18/20 - 2
1-27101293-C-G c.4575C>G p.G1525= Synonymous 18/20 - 1
1-27101293-C-T c.4575C>T p.G1525= Synonymous 18/20 - 4
1-27101294-G-A c.4576G>A p.V1526M Missense 18/20 - 12
1-27101294-G-C c.4576G>C p.V1526L Missense 18/20 - 2
1-27101294-G-T c.4576G>T p.V1526L Missense 18/20 - 3
1-27101296-G-A c.4578G>A p.V1526= Synonymous 18/20 - 2
1-27101296-G-C c.4578G>C p.V1526= Synonymous 18/20 - 2
1-27101296-G-T c.4578G>T p.V1526= Synonymous 18/20 - 2
1-27101299-C-T c.4581C>T p.N1527= Synonymous 18/20 - 1
1-27101300-C-T c.4582C>T p.R1528* Nonsense 18/20 - 24
1-27101301-G-A c.4583G>A p.R1528Q Missense 18/20 - 2
1-27101301-G-T c.4583G>T p.R1528L Missense 18/20 - 1
1-27101305-A-C c.4587A>C p.T1529= Synonymous 18/20 - 1
1-27101306-G-A c.4588G>A p.D1530N Missense 18/20 - 4
1-27101307-A-G c.4589A>G p.D1530G Missense 18/20 - 1
1-27101309-G-A c.4591G>A p.E1531K Missense 18/20 - 6
1-27101309-G-C c.4591G>C p.E1531Q Missense 18/20 - 1
1-27101309-G-T c.4591G>T p.E1531* Nonsense 18/20 - 11
1-27101309-TG-T c.4591del p.E1531Kfs*34 Frameshift 18/20 - 4
1-27101309-G-GA c.4594dup p.M1532Nfs*40 Frameshift 18/20 - 1
1-27101312-AAT-A c.4594_4595del p.M1532Afs*39 Frameshift 18/20 - 1
1-27101312-AATG-A c.4594_4596del p.M1532del InFrameDeletion 18/20 - 1
1-27101312-A-G c.4594A>G p.M1532V Missense 18/20 - 2
1-27101314-G-A c.4596G>A p.M1532I Missense 18/20 - 1
1-27101314-G-T c.4596G>T p.M1532I Missense 18/20 - 1
1-27101315-C-A c.4597C>A p.L1533M Missense 18/20 - 1
1-27101315-C-T c.4597C>T p.L1533= Synonymous 18/20 - 3
1-27101317-G-A c.4599G>A p.L1533= Synonymous 18/20 - 3
1-27101317-G-C c.4599G>C p.L1533= Synonymous 18/20 - 4
1-27101317-G-T c.4599G>T p.L1533= Synonymous 18/20 - 3
1-27101315-CTGCACACAGATCAGAGGGCCAACCACGAAGGCTCG-C c.4600_4634del p.H1534Afs*26 Frameshift 18/20 - 1
1-27101318-C-T c.4600C>T p.H1534Y Missense 18/20 - 1
1-27101320-C-A c.4602C>A p.H1534Q Missense 18/20 - 1
1-27101320-C-G c.4602C>G p.H1534Q Missense 18/20 - 1
1-27101317-GCA-G c.4604_4605del p.T1535Rfs*36 Frameshift 18/20 - 1
1-27101322-C-T c.4604C>T p.T1535I Missense 18/20 - 2
1-27101324-G-A c.4606G>A p.D1536N Missense 18/20 - 3
1-27101324-G-C c.4606G>C p.D1536H Missense 18/20 - 1
1-27101324-G-T c.4606G>T p.D1536Y Missense 18/20 - 2
1-27101321-ACAGAT-A c.4608_4612del p.D1536Efs*34 Frameshift 18/20 - 3
1-27101327-C-T c.4609C>T p.Q1537* Nonsense 18/20 - 2
1-27101329-G-A c.4611G>A p.Q1537= Synonymous 18/20 - 2
1-27101329-G-C c.4611G>C p.Q1537H Missense 18/20 - 1
1-27101329-G-T c.4611G>T p.Q1537H Missense 18/20 - 2
1-27101330-A-T c.4612A>T p.R1538W Missense 18/20 - 1
1-27101330-AG-A c.4615del p.A1539Pfs*26 Frameshift 18/20 - 1
1-27101333-G-T c.4615G>T p.A1539S Missense 18/20 - 2
1-27101334-C-T c.4616C>T p.A1539V Missense 18/20 - 3
1-27101337-A-G c.4619A>G p.N1540S Missense 18/20 - 1
1-27101338-C-A c.4620C>A p.N1540K Missense 18/20 - 2
1-27101339-C-T c.4621C>T p.H1541Y Missense 18/20 - 2
1-27101341-C-T c.4623C>T p.H1541= Synonymous 18/20 - 1
1-27101342-G-A c.4624G>A p.E1542K Missense 18/20 - 7
1-27101342-G-T c.4624G>T p.E1542* Nonsense 18/20 - 12
1-27101343-A-C c.4625A>C p.E1542A Missense 18/20 - 1
1-27101343-A-G c.4625A>G p.E1542G Missense 18/20 - 1
1-27101343-GAAGGC-G c.4625_4629del p.E1542Vfs*28 Frameshift 18/20 - 1
1-27101342-G-GA c.4626dup p.G1543Rfs*29 Frameshift 18/20 - 1
1-27101345-G-A c.4627G>A p.G1543S Missense 18/20 - 2
1-27101345-G-T c.4627G>T p.G1543C Missense 18/20 - 2
1-27101344-AG-A c.4628del p.G1543Afs*22 Frameshift 18/20 - 1
1-27101346-G-C c.4628G>C p.G1543A Missense 18/20 - 1
1-27101347-C-T c.4629C>T p.G1543= Synonymous 18/20 - 1
1-27101348-T-C c.4630T>C p.S1544P Missense 18/20 - 8
1-27101348-T-G c.4630T>G p.S1544A Missense 18/20 - 1
1-27101349-CG-TT c.4631_4632delinsTT p.S1544F Missense 18/20 - 1
1-27101349-C-T c.4631C>T p.S1544L Missense 18/20 - 8
1-27101350-G-A c.4632G>A p.S1544= Synonymous 18/20 - 6
1-27101350-G-C c.4632G>C p.S1544= Synonymous 18/20 - 3
1-27101350-G-T c.4632G>T p.S1544= Synonymous 18/20 - 4
1-27101352-G-A c.4634G>A p.W1545* Nonsense 18/20 - 2
1-27101352-G-C c.4634G>C p.W1545S Missense 18/20 - 1
1-27101352-G-T c.4634G>T p.W1545L Missense 18/20 - 1
1-27101351-TG-T c.4635del p.W1545Cfs*20 Frameshift 18/20 - 1
1-27101353-G-A c.4635G>A p.W1545* Nonsense 18/20 - 6
1-27101353-G-GGAA c.4635_4636insGAA p.W1545_P1546insE InFrameInsertion 18/20 - 1
1-27101354-C-T c.4636C>T p.P1546S Missense 18/20 - 1
1-27101354-GCCT-G c.4636_4638del p.P1546del InFrameDeletion 18/20 - 3
1-27101355-C-T c.4637C>T p.P1546L Missense 18/20 - 5
1-27101355-CT-C c.4639del p.S1547Pfs*18 Frameshift 18/20 - 1
1-27101357-T-C c.4639T>C p.S1547P Missense 18/20 - 1
1-27101357-T-G c.4639T>G p.S1547A Missense 18/20 - 1
1-27101358-C-T c.4640C>T p.S1547F Missense 18/20 - 1
1-27101359-C-A c.4641C>A p.S1547= Synonymous 18/20 - 2
1-27101359-C-G c.4641C>G p.S1547= Synonymous 18/20 - 2
1-27101359-C-T c.4641C>T p.S1547= Synonymous 18/20 - 2
1-27101360-C-T c.4642C>T p.H1548Y Missense 18/20 - 3
1-27101362-T-A c.4644T>A p.H1548Q Missense 18/20 - 1
1-27101363-G-A c.4645G>A p.G1549S Missense 18/20 - 1
1-27101364-G-C c.4646G>C p.G1549A Missense 18/20 - 2
1-27101364-G-T c.4646G>T p.G1549V Missense 18/20 - 1
1-27101366-A-G c.4648A>G p.T1550A Missense 18/20 - 1
1-27101366-A-T c.4648A>T p.T1550S Missense 18/20 - 1
1-27101367-C-T c.4649C>T p.T1550I Missense 18/20 - 1
1-27101369-C-A c.4651C>A p.R1551S Missense 18/20 - 1
1-27101369-CGC-TGA c.4651_4653delinsTGA p.R1551* Nonsense 18/20 - 1
1-27101369-C-T c.4651C>T p.R1551C Missense 18/20 - 4
1-27101370-G-A c.4652G>A p.R1551H Missense 18/20 - 10
1-27101372-C-G c.4654C>G p.Q1552E Missense 18/20 - 1
1-27101372-C-T c.4654C>T p.Q1552* Nonsense 18/20 - 2
1-27101374-G-A c.4656G>A p.Q1552= Synonymous 18/20 - 4
1-27101374-G-C c.4656G>C p.Q1552H Missense 18/20 - 1
1-27101374-G-GT c.4656_4657insT p.P1553Sfs*19 Frameshift 18/20 - 1
1-27101374-G-T c.4656G>T p.Q1552H Missense 18/20 - 2
1-27101375-C-A c.4657C>A p.P1553T Missense 18/20 - 1
1-27101375-C-T c.4657C>T p.P1553S Missense 18/20 - 3
1-27101376-C-A c.4658C>A p.P1553H Missense 18/20 - 3
1-27101376-C-T c.4658C>T p.P1553L Missense 18/20 - 2
1-27101377-C-A c.4659C>A p.P1553= Synonymous 18/20 - 1
1-27101377-C-G c.4659C>G p.P1553= Synonymous 18/20 - 1
1-27101377-C-T c.4659C>T p.P1553= Synonymous 18/20 - 2
1-27101378-C-A c.4660C>A p.P1554T Missense 18/20 - 1
1-27101378-C-T c.4660C>T p.P1554S Missense 18/20 - 1
1-27101374-GC-G c.4661del p.P1554Hfs*11 Frameshift 18/20 - 1
1-27101374-G-GC c.4661dup p.Y1555Ifs*17 Frameshift 18/20 - 1
1-27101379-C-T c.4661C>T p.P1554L Missense 18/20 - 2
1-27101380-A-G c.4662A>G p.P1554= Synonymous 18/20 - 1
1-27101384-G-A c.4666G>A p.G1556S Missense 18/20 - 1
1-27101385-G-A c.4667G>A p.G1556D Missense 18/20 - 1
1-27101385-G-C c.4667G>C p.G1556A Missense 18/20 - 1
1-27101385-G-T c.4667G>T p.G1556V Missense 18/20 - 2
1-27101387-C-G c.4669C>G p.P1557A Missense 18/20 - 1
1-27101388-C-T c.4670C>T p.P1557L Missense 18/20 - 5
1-27101389-C-T c.4671C>T p.P1557= Synonymous 18/20 - 1
1-27101386-TCCCTCTG-T c.4672_4678del p.S1558Lfs*5 Frameshift 18/20 - 1
1-27101390-T-C c.4672T>C p.S1558P Missense 18/20 - 2
1-27101386-TCCCTCTGC-T c.4673_4680del p.S1558Cfs*11 Frameshift 18/20 - 1
1-27101391-C-T c.4673C>T p.S1558F Missense 18/20 - 1
1-27101392-T-A c.4674T>A p.S1558= Synonymous 18/20 - 1
1-27101393-G-A c.4675G>A p.A1559T Missense 18/20 - 2
1-27101393-G-T c.4675G>T p.A1559S Missense 18/20 - 1
1-27101393-TGCC-T c.4675_4677del p.A1559del InFrameDeletion 18/20 - 1
1-27101394-C-T c.4676C>T p.A1559V Missense 18/20 - 1
1-27101396-C-A c.4678C>A p.P1560T Missense 18/20 - 1
1-27101396-C-G c.4678C>G p.P1560A Missense 18/20 - 4
1-27101397-C-A c.4679C>A p.P1560H Missense 18/20 - 1
1-27101397-C-T c.4679C>T p.P1560L Missense 18/20 - 2
1-27101398-T-C c.4680T>C p.P1560= Synonymous 18/20 - 1
1-27101399-G-A c.4681G>A p.V1561M Missense 18/20 - 2
1-27101399-G-C c.4681G>C p.V1561L Missense 18/20 - 1
1-27101401-G-T c.4683G>T p.V1561= Synonymous 18/20 - 1
1-27101402-C-A c.4684C>A p.P1562T Missense 18/20 - 2
1-27101402-C-G c.4684C>G p.P1562A Missense 18/20 - 1
1-27101402-C-T c.4684C>T p.P1562S Missense 18/20 - 2
1-27101403-C-T c.4685C>T p.P1562L Missense 18/20 - 2
1-27101404-C-A c.4686C>A p.P1562= Synonymous 18/20 - 1
1-27101404-C-G c.4686C>G p.P1562= Synonymous 18/20 - 1
1-27101404-C-T c.4686C>T p.P1562= Synonymous 18/20 - 5
1-27101405-C-A c.4687C>A p.P1563T Missense 18/20 - 2
1-27101405-C-T c.4687C>T p.P1563S Missense 18/20 - 4
1-27101401-GCC-G c.4688_4689del p.P1563Hfs*8 Frameshift 18/20 - 1
1-27101406-C-A c.4688C>A p.P1563H Missense 18/20 - 1
1-27101406-C-T c.4688C>T p.P1563L Missense 18/20 - 1
1-27101401-GC-G c.4689del p.M1564* Frameshift 18/20 - 4
1-27101401-G-GC c.4689dup p.M1564Hfs*8 Frameshift 18/20 - 3
1-27101407-C-CTA c.4689_4690insTA p.M1564* Nonsense 18/20 - 1
1-27101408-A-C c.4690A>C p.M1564L Missense 18/20 - 3
1-27101408-AT-TA c.4690_4691delinsTA p.M1564* Nonsense 18/20 - 2
1-27101409-T-C c.4691T>C p.M1564T Missense 18/20 - 1
1-27101410-G-A c.4692G>A p.M1564I Missense 18/20 - 1
1-27101410-G-C c.4692G>C p.M1564I Missense 18/20 - 1
1-27101410-G-T c.4692G>T p.M1564I Missense 18/20 - 2
1-27101413-A-C c.4695A>C p.T1565= Synonymous 18/20 - 1
1-27101413-A-G c.4695A>G p.T1565= Synonymous 18/20 - 1
1-27101413-A-T c.4695A>T p.T1565= Synonymous 18/20 - 1
1-27101414-AGG-CAT c.4696_4698delinsCAT p.R1566H Missense 18/20 - 1
1-27101414-AGG-TGT c.4696_4698delinsTGT p.R1566C Missense 18/20 - 1
1-27101414-A-T c.4696A>T p.R1566W Missense 18/20 - 1
1-27101415-AGG-A c.4697_4698del p.R1566Tfs*5 Frameshift 18/20 - 1
1-27101415-G-A c.4697G>A p.R1566K Missense 18/20 - 3
1-27101415-G-T c.4697G>T p.R1566M Missense 18/20 - 1
1-27101416-G-C c.4698G>C p.R1566S Missense 18/20 - 3
1-27101416-G-T c.4698G>T p.R1566S Missense 18/20 - 2
1-27101417-C-A c.4699C>A p.P1567T Missense 18/20 - 1
1-27101417-C-G c.4699C>G p.P1567A Missense 18/20 - 1
1-27101417-C-T c.4699C>T p.P1567S Missense 18/20 - 3
1-27101418-C-T c.4700C>T p.P1567L Missense 18/20 - 3
1-27101419-C-A c.4701C>A p.P1567= Synonymous 18/20 - 1
1-27101420-C-A c.4702C>A p.P1568T Missense 18/20 - 1
1-27101420-C-T c.4702C>T p.P1568S Missense 18/20 - 4
1-27101416-GC-G c.4703del p.P1568Lfs*44 Frameshift 18/20 - 2
1-27101421-C-A c.4703C>A p.P1568H Missense 18/20 - 1
1-27101423-C-A c.4705C>A p.P1569T Missense 18/20 - 1
1-27101424-C-T c.4706C>T p.P1569L Missense 18/20 - 6
1-27101425-A-C c.4707A>C p.P1569= Synonymous 18/20 - 1
1-27101427-C-G c.4709C>G p.S1570C Missense 18/20 - 2
1-27101427-C-T c.4709C>T p.S1570F Missense 18/20 - 1
1-27101427-TC-T c.4709del p.S1570Lfs*42 Frameshift 18/20 - 1
1-27101427-C-CT c.4710dup p.N1571* Nonsense 18/20 - 3
1-27101428-T-G c.4710T>G p.S1570= Synonymous 18/20 - 1
1-27101428-T-TTA c.4710_4711insTA p.N1571* Nonsense 18/20 - 1
1-27101429-AAC-TAA c.4711_4713delinsTAA p.N1571* Nonsense 18/20 - 2
1-27101431-ACT-A c.4713_4714del p.N1571Kfs*31 Frameshift 18/20 - 1
1-27101434-C-A c.4716C>A p.Y1572* Nonsense 18/20 - 4
1-27101434-C-G c.4716C>G p.Y1572* Nonsense 18/20 - 5
1-27101435-C-T c.4717C>T p.Q1573* Nonsense 18/20 - 6
1-27101437-G-A c.4719G>A p.Q1573= Synonymous 18/20 - 1
1-27101437-G-T c.4719G>T p.Q1573H Missense 18/20 - 1
1-27101438-C-A c.4720C>A p.P1574T Missense 18/20 - 1
1-27101438-C-T c.4720C>T p.P1574S Missense 18/20 - 1
1-27101439-C-T c.4721C>T p.P1574L Missense 18/20 - 1
1-27101441-C-A c.4723C>A p.P1575T Missense 18/20 - 1
1-27101441-CCCACCAAGCA-C c.4723_4732del p.P1575Cfs*34 Frameshift 18/20 - 1
1-27101441-C-T c.4723C>T p.P1575S Missense 18/20 - 2
1-27101437-GC-G c.4724del p.P1575Hfs*37 Frameshift 18/20 - 3
1-27101437-G-GC c.4724dup p.P1576Tfs*27 Frameshift 18/20 - 1
1-27101442-C-A c.4724C>A p.P1575Q Missense 18/20 - 6
1-27101442-C-G c.4724C>G p.P1575R Missense 18/20 - 1
1-27101442-C-T c.4724C>T p.P1575L Missense 18/20 - 1
1-27101443-A-G c.4725A>G p.P1575= Synonymous 18/20 - 1
1-27101445-C-T c.4727C>T p.P1576L Missense 18/20 - 4
1-27101446-A-C c.4728A>C p.P1576= Synonymous 18/20 - 2
1-27101446-A-G c.4728A>G p.P1576= Synonymous 18/20 - 1
1-27101446-A-T c.4728A>T p.P1576= Synonymous 18/20 - 1
1-27101449-C-T c.4731C>T p.S1577= Synonymous 18/20 - 1
1-27101450-A-AC c.4732_4733insC p.M1578Tfs*25 Frameshift 18/20 - 1
1-27101450-A-G c.4732A>G p.M1578V Missense 18/20 - 1
1-27101451-T-G c.4733T>G p.M1578R Missense 18/20 - 2
1-27101452-G-A c.4734G>A p.M1578I Missense 18/20 - 1
1-27101453-C-T c.4735C>T p.Q1579* Nonsense 18/20 - 6
1-27101454-A-C c.4736A>C p.Q1579P Missense 18/20 - 7
1-27101454-A-G c.4736A>G p.Q1579R Missense 18/20 - 2
1-27101455-G-C c.4737G>C p.Q1579H Missense 18/20 - 1
1-27101455-G-T c.4737G>T p.Q1579H Missense 18/20 - 1
1-27101459-C-CT c.4741_4742insT p.H1581Lfs*22 Frameshift 18/20 - 1
1-27101459-C-G c.4741C>G p.H1581D Missense 18/20 - 3
1-27101459-C-T c.4741C>T p.H1581Y Missense 18/20 - 3
1-27101458-TCA-T c.4743_4744del p.I1582Sfs*20 Frameshift 18/20 - 1
1-27101461-C-T c.4743C>T p.H1581= Synonymous 18/20 - 1
1-27101463-T-G c.4745T>G p.I1582S Missense 18/20 - 2
1-27101465-C-A c.4747C>A p.P1583T Missense 18/20 - 1
1-27101465-C-G c.4747C>G p.P1583A Missense 18/20 - 2
1-27101465-C-T c.4747C>T p.P1583S Missense 18/20 - 5
1-27101464-TC-T c.4748del p.P1583Lfs*29 Frameshift 18/20 - 1
1-27101466-C-A c.4748C>A p.P1583H Missense 18/20 - 1
1-27101466-C-T c.4748C>T p.P1583L Missense 18/20 - 3
1-27101468-C-T c.4750C>T p.Q1584* Nonsense 18/20 - 15
1-27101468-TCA-T c.4750_4751del p.Q1584Gfs*18 Frameshift 18/20 - 1
1-27101469-A-G c.4751A>G p.Q1584R Missense 18/20 - 2
1-27101470-G-C c.4752G>C p.Q1584H Missense 18/20 - 1
1-27101470-G-T c.4752G>T p.Q1584H Missense 18/20 - 2
1-27101471-G-A c.4753G>A p.V1585I Missense 18/20 - 1
1-27101471-G-T c.4753G>T p.V1585L Missense 18/20 - 1
1-27101474-T-A c.4756T>A p.S1586T Missense 18/20 - 1
1-27101475-C-T c.4757C>T p.S1586F Missense 18/20 - 2
1-27101477-AG-CC c.4759_4760delinsCC p.S1587P Missense 18/20 - 1
1-27101477-A-T c.4759A>T p.S1587C Missense 18/20 - 1
1-27101478-G-A c.4760G>A p.S1587N Missense 18/20 - 2
1-27101478-G-T c.4760G>T p.S1587I Missense 18/20 - 2
1-27101480-C-T c.4762C>T p.P1588S Missense 18/20 - 3
1-27101481-C-T c.4763C>T p.P1588L Missense 18/20 - 1
1-27101477-AGCCCTGCTCCCCT-A c.4764_4776del p.A1589Gfs*19 Frameshift 18/20 - 1
1-27101482-T-C c.4764T>C p.P1588= Synonymous 18/20 - 2
1-27101483-G-A c.4765G>A p.A1589T Missense 18/20 - 2
1-27101483-G-T c.4765G>T p.A1589S Missense 18/20 - 1
1-27101484-C-G c.4766C>G p.A1589G Missense 18/20 - 1
1-27101484-C-T c.4766C>T p.A1589V Missense 18/20 - 1
1-27101486-C-A c.4768C>A p.P1590T Missense 18/20 - 3
1-27101486-C-T c.4768C>T p.P1590S Missense 18/20 - 2
1-27101487-C-T c.4769C>T p.P1590L Missense 18/20 - 1
1-27101485-TC-T c.4771del p.L1591Cfs*21 Frameshift 18/20 - 3
1-27101489-C-T c.4771C>T p.L1591= Synonymous 18/20 - 2
1-27101490-CT-C c.4772del p.L1591Rfs*21 Frameshift 18/20 - 1
1-27101490-T-A c.4772T>A p.L1591Q Missense 18/20 - 1
1-27101491-G-A c.4773G>A p.L1591= Synonymous 18/20 - 2
1-27101491-G-C c.4773G>C p.L1591= Synonymous 18/20 - 2
1-27101491-G-T c.4773G>T p.L1591= Synonymous 18/20 - 1
1-27101494-C-T c.4776C>T p.P1592= Synonymous 18/20 - 1
1-27101491-GC-G c.4777del p.R1593Gfs*19 Frameshift 18/20 - 1
1-27101491-G-GC c.4777dup p.R1593Pfs*10 Frameshift 18/20 - 1
1-27101495-C-A c.4777C>A p.R1593= Synonymous 18/20 - 2
1-27101495-C-T c.4777C>T p.R1593W Missense 18/20 - 10
1-27101497-G-A c.4779G>A p.R1593= Synonymous 18/20 - 2
1-27101497-G-C c.4779G>C p.R1593= Synonymous 18/20 - 2
1-27101497-G-T c.4779G>T p.R1593= Synonymous 18/20 - 2
1-27101496-G-A c.4778G>A p.R1593Q Missense 18/20 - 3
1-27101496-G-T c.4778G>T p.R1593L Missense 18/20 - 2
1-27101497-G-GC c.4781dup p.M1595Nfs*8 Frameshift 18/20 - 2
1-27101499-C-T c.4781C>T p.P1594L Missense 18/20 - 2
1-27101500-A-C c.4782A>C p.P1594= Synonymous 18/20 - 2
1-27101501-A-G c.4783A>G p.M1595V Missense 18/20 - 3
1-27101501-A-T c.4783A>T p.M1595L Missense 18/20 - 1
1-27101502-T-G c.4784T>G p.M1595R Missense 18/20 - 1
1-27101503-G-A c.4785G>A p.M1595I Missense 18/20 - 2
1-27101503-G-C c.4785G>C p.M1595I Missense 18/20 - 2
1-27101503-G-T c.4785G>T p.M1595I Missense 18/20 - 2
1-27101504-G-C c.4786G>C p.E1596Q Missense 18/20 - 1
1-27101504-G-T c.4786G>T p.E1596* Nonsense 18/20 - 4
1-27101506-G-A c.4788G>A p.E1596= Synonymous 18/20 - 2
1-27101508-A-C c.4790A>C p.N1597T Missense 18/20 - 1
1-27101509-C-A c.4791C>A p.N1597K Missense 18/20 - 1
1-27101509-C-G c.4791C>G p.N1597K Missense 18/20 - 1
1-27101509-C-T c.4791C>T p.N1597= Synonymous 18/20 - 1
1-27101510-CGC-TGA c.4792_4794delinsTGA p.R1598* Nonsense 18/20 - 2
1-27101510-C-T c.4792C>T p.R1598C Missense 18/20 - 2
1-27101511-G-A c.4793G>A p.R1598H Missense 18/20 - 6
1-27101511-G-T c.4793G>T p.R1598L Missense 18/20 - 2
1-27101512-C-A c.4794C>A p.R1598= Synonymous 18/20 - 1
1-27101512-C-G c.4794C>G p.R1598= Synonymous 18/20 - 1
1-27101512-C-T c.4794C>T p.R1598= Synonymous 18/20 - 3
1-27101515-C-T c.4797C>T p.T1599= Synonymous 18/20 - 1
1-27101517-C-T c.4799C>T p.S1600F Missense 18/20 - 4
1-27101519-C-T c.4801C>T p.P1601S Missense 18/20 - 1
1-27101518-TC-T c.4802del p.P1601Lfs*11 Frameshift 18/20 - 1
1-27101522-AG-CC c.4804_4805delinsCC p.S1602P Missense 18/20 - 1
1-27101523-G-A c.4805G>A p.S1602N Missense 18/20 - 2
1-27101524-GC-G c.4806del p.S1602Rfs*10 Frameshift 18/20 - 2
1-27101525-A-G c.4807A>G p.K1603E Missense 18/20 - 2
1-27101527-AGTCT-A c.4809_4812del p.K1603Nfs*8 Frameshift 18/20 - 1
1-27101528-T-A c.4810T>A p.S1604T Missense 18/20 - 1
1-27101529-C-A c.4811C>A p.S1604Y Missense 18/20 - 1
1-27101530-T-A c.4812T>A p.S1604= Synonymous 18/20 - 1
1-27101530-T-C c.4812T>C p.S1604= Synonymous 18/20 - 1
1-27101530-T-G c.4812T>G p.S1604= Synonymous 18/20 - 1
1-27101531-C-T c.4813C>T p.P1605S Missense 18/20 - 5
1-27101532-CA-AT c.4814_4815delinsAT p.P1605H Missense 18/20 - 1
1-27101532-C-T c.4814C>T p.P1605L Missense 18/20 - 3
1-27101537-C-T c.4819C>T p.L1607= Synonymous 18/20 - 2
1-27101539-G-C c.4821G>C p.L1607= Synonymous 18/20 - 1
1-27101540-GC-G c.4822del p.H1608Tfs*4 Frameshift 18/20 - 1
1-27101541-A-G c.4823A>G p.H1608R Missense 18/20 - 1
1-27101543-T-C c.4825T>C p.S1609P Missense 18/20 - 1
1-27101543-TC-CT c.4825_4826delinsCT p.S1609L Missense 18/20 - 2
1-27101543-T-TC c.4826dup p.G1610Wfs*38 Frameshift 18/20 - 1
1-27101544-C-A c.4826C>A p.S1609Y Missense 18/20 - 1
1-27101544-CT-AA c.4826_4827delinsAA p.S1609* Nonsense 18/20 - 2
1-27101546-G-T c.4828G>T p.G1610W Missense 18/20 - 1
1-27101547-G-C c.4829G>C p.G1610A Missense 18/20 - 1
1-27101550-T-A c.4832T>A p.M1611K Missense 18/20 - 1
1-27101550-T-C c.4832T>C p.M1611T Missense 18/20 - 1
1-27101551-G-A c.4833G>A p.M1611I Missense 18/20 - 2
1-27101551-G-C c.4833G>C p.M1611I Missense 18/20 - 2
1-27101551-G-T c.4833G>T p.M1611I Missense 18/20 - 4
1-27101552-A-C c.4834A>C p.K1612Q Missense 18/20 - 1
1-27101552-A-G c.4834A>G p.K1612E Missense 18/20 - 1
1-27101551-GAA-G c.4836_4837del p.K1612Nfs*35 Frameshift 18/20 - 1
1-27101554-A-G c.4836A>G p.K1612= Synonymous 18/20 - 1
1-27101557-G-A c.4839G>A p.M1613I Missense 18/20 - 2
1-27101557-G-C c.4839G>C p.M1613I Missense 18/20 - 2
1-27101557-GC-TT c.4839_4840delinsTT p.M1613_Q1614delinsI* MultiAAMissense 18/20 - 1
1-27101557-G-T c.4839G>T p.M1613I Missense 18/20 - 2
1-27101558-C-T c.4840C>T p.Q1614* Nonsense 18/20 - 7
1-27101559-A-G c.4841A>G p.Q1614R Missense 18/20 - 1
1-27101560-G-T c.4842G>T p.Q1614H Missense 18/20 - 1
1-27101564-G-A c.4846G>A p.A1616T Missense 18/20 - 2
1-27101565-C-G c.4847C>G p.A1616G Missense 18/20 - 1
1-27101565-C-T c.4847C>T p.A1616V Missense 18/20 - 5
1-27101568-G-A c.4850G>A p.G1617D Missense 18/20 - 2
1-27101570-CCC-TAA c.4852_4854delinsTAA p.P1618* Nonsense 18/20 - 1
1-27101570-C-T c.4852C>T p.P1618S Missense 18/20 - 3
1-27101570-TCCCCC-T c.4852_4856del p.P1618Sfs*28 Frameshift 18/20 - 1
1-27101573-C-T c.4855C>T p.P1619S Missense 18/20 - 1
1-27101569-TC-T c.4856del p.P1619Qfs*7 Frameshift 18/20 - 3
1-27101569-T-TC c.4856dup p.V1620Sfs*28 Frameshift 18/20 - 2
1-27101574-C-T c.4856C>T p.P1619L Missense 18/20 - 5
1-27101575-A-ACTGGG c.4857_4858insCTGGG p.V1620Lfs*8 Frameshift 18/20 - 1
1-27101576-G-T c.4858G>T p.V1620L Missense 18/20 - 1
1-27101577-T-G c.4859T>G p.V1620G Missense 18/20 - 1
1-27101577-T-TA c.4860dup p.P1621Tfs*27 Frameshift 18/20 - 1
1-27101579-C-T c.4861C>T p.P1621S Missense 18/20 - 3
1-27101583-C-G c.4865C>G p.A1622G Missense 18/20 - 1
1-27101583-C-T c.4865C>T p.A1622V Missense 18/20 - 1
1-27101584-C-G c.4866C>G p.A1622= Synonymous 18/20 - 1
1-27101585-T-A c.4867T>A p.S1623T Missense 18/20 - 1
1-27101586-C-T c.4868C>T p.S1623L Missense 18/20 - 9
1-27101587-G-A c.4869G>A p.S1623= Synonymous 18/20 - 2
1-27101587-G-C c.4869G>C p.S1623= Synonymous 18/20 - 1
1-27101587-G-T c.4869G>T p.S1623= Synonymous 18/20 - 1
1-27101588-C-T c.4870C>T p.H1624Y Missense 18/20 - 2
1-27101591-ATA-TTT c.4873_4875delinsTTT p.I1625F Missense 18/20 - 1
1-27101591-A-AT c.4874dup p.A1626Sfs*22 Frameshift 18/20 - 1
1-27101592-T-A c.4874T>A p.I1625K Missense 18/20 - 1
1-27101592-T-C c.4874T>C p.I1625T Missense 18/20 - 1
1-27101593-A-G c.4875A>G p.I1625M Missense 18/20 - 1
1-27101593-TA-T c.4875del p.I1625Mfs*10 Frameshift 18/20 - 1
1-27101594-G-A c.4876G>A p.A1626T Missense 18/20 - 1
1-27101594-G-C c.4876G>C p.A1626P Missense 18/20 - 1
1-27101596-A-C c.4878A>C p.A1626= Synonymous 18/20 - 1
1-27101596-A-G c.4878A>G p.A1626= Synonymous 18/20 - 1
1-27101596-A-T c.4878A>T p.A1626= Synonymous 18/20 - 1
1-27101597-C-G c.4879C>G p.P1627A Missense 18/20 - 9
1-27101597-C-T c.4879C>T p.P1627S Missense 18/20 - 3
1-27101598-C-T c.4880C>T p.P1627L Missense 18/20 - 1
1-27101597-CCTGCCCCTGTGCAG-C c.4881_4894del p.A1628Pfs*15 Frameshift 18/20 - 1
1-27101600-G-A c.4882G>A p.A1628T Missense 18/20 - 1
1-27101601-C-T c.4883C>T p.A1628V Missense 18/20 - 2
1-27101603-C-A c.4885C>A p.P1629T Missense 18/20 - 1
1-27101603-C-T c.4885C>T p.P1629S Missense 18/20 - 2
1-27101600-GC-G c.4886del p.P1629Lfs*6 Frameshift 18/20 - 1
1-27101600-G-GC c.4886dup p.V1630Cfs*18 Frameshift 18/20 - 1
1-27101606-G-GT c.4889dup p.Q1631Afs*17 Frameshift 18/20 - 1
1-27101607-T-TG c.4890dup p.Q1631Afs*17 Frameshift 18/20 - 2
1-27101609-CAG-ATC c.4891_4893delinsATC p.Q1631I Missense 18/20 - 1
1-27101609-C-G c.4891C>G p.Q1631E Missense 18/20 - 1
1-27101609-C-T c.4891C>T p.Q1631* Nonsense 18/20 - 10
1-27101607-TGCA-T c.4892_4894del p.Q1631del InFrameDeletion 18/20 - 1
1-27101610-CAG-C c.4892_4893del p.Q1631Pfs*16 Frameshift 18/20 - 1
1-27101611-G-C c.4893G>C p.Q1631H Missense 18/20 - 1
1-27101611-G-T c.4893G>T p.Q1631H Missense 18/20 - 1
1-27101612-C-G c.4894C>G p.P1632A Missense 18/20 - 3
1-27101612-C-T c.4894C>T p.P1632S Missense 18/20 - 3
1-27101613-C-T c.4895C>T p.P1632L Missense 18/20 - 1
1-27101615-C-T c.4897C>T p.P1633S Missense 18/20 - 1
1-27101616-C-T c.4898C>T p.P1633L Missense 18/20 - 1
1-27101611-GC-G c.4899del p.M1634* Frameshift 18/20 - 3
1-27101611-G-GC c.4899dup p.M1634Hfs*14 Frameshift 18/20 - 7
1-27101618-A-G c.4900A>G p.M1634V Missense 18/20 - 1
1-27101618-AT-TA c.4900_4901delinsTA p.M1634* Nonsense 18/20 - 2
1-27101620-G-A c.4902G>A p.M1634I Missense 18/20 - 1
1-27101620-G-C c.4902G>C p.M1634I Missense 18/20 - 1
1-27101620-G-T c.4902G>T p.M1634I Missense 18/20 - 2
1-27101624-C-A c.4906C>A p.R1636= Synonymous 18/20 - 1
1-27101624-C-T c.4906C>T p.R1636W Missense 18/20 - 7
1-27101626-G-A c.4908G>A p.R1636= Synonymous 18/20 - 1
1-27101626-G-C c.4908G>C p.R1636= Synonymous 18/20 - 1
1-27101626-G-T c.4908G>T p.R1636= Synonymous 18/20 - 1
1-27101625-G-A c.4907G>A p.R1636Q Missense 18/20 - 2
1-27101625-GG-AT c.4907_4908delinsAT p.R1636H Missense 18/20 - 2
1-27101625-G-T c.4907G>T p.R1636L Missense 18/20 - 3
1-27101627-C-A c.4909C>A p.R1637= Synonymous 18/20 - 2
1-27101627-C-T c.4909C>T p.R1637W Missense 18/20 - 2
1-27101629-G-A c.4911G>A p.R1637= Synonymous 18/20 - 2
1-27101629-G-C c.4911G>C p.R1637= Synonymous 18/20 - 1
1-27101629-G-T c.4911G>T p.R1637= Synonymous 18/20 - 1
1-27101628-G-A c.4910G>A p.R1637Q Missense 18/20 - 7
1-27101628-G-T c.4910G>T p.R1637L Missense 18/20 - 1
1-27101630-G-A c.4912G>A p.D1638N Missense 18/20 - 1
1-27101630-G-T c.4912G>T p.D1638Y Missense 18/20 - 1
1-27101635-TC-T c.4917del p.T1640Pfs*14 Frameshift 18/20 - 1
1-27101636-A-C c.4918A>C p.T1640P Missense 18/20 - 1
1-27101636-A-G c.4918A>G p.T1640A Missense 18/20 - 3
1-27101637-C-T c.4919C>T p.T1640I Missense 18/20 - 2
1-27101640-T-C c.4922T>C p.F1641S Missense 18/20 - 1
1-27101642-C-T c.4924C>T p.P1642S Missense 18/20 - 3
1-27101640-T-TC c.4925dup p.P1643Tfs*5 Frameshift 18/20 - 1
1-27101644-A-ATGGC c.4926_4927insTGGC p.P1643Wfs*6 Frameshift 18/20 - 1
1-27101645-C-A c.4927C>A p.P1643T Missense 18/20 - 1
1-27101645-C-G c.4927C>G p.P1643A Missense 18/20 - 1
1-27101646-C-T c.4928C>T p.P1643L Missense 18/20 - 1
1-27101648-G-A c.4930G>A p.G1644S Missense 18/20 - 3
1-27101650-GC-G c.4932del p.S1645Lfs*9 Frameshift 18/20 - 1
1-27101652-CT-AA c.4934_4935delinsAA p.S1645* Nonsense 18/20 - 1
1-27101654-G-C c.4936G>C p.V1646L Missense 18/20 - 3
1-27101654-GTT-ATG c.4936_4938delinsATG p.V1646M Missense 18/20 - 1
1-27101656-T-A c.4938T>A p.V1646= Synonymous 18/20 - 1
1-27101656-T-C c.4938T>C p.V1646= Synonymous 18/20 - 1
1-27101656-T-G c.4938T>G p.V1646= Synonymous 18/20 - 1
1-27101656-TTG-T c.4938_4939del p.E1647Sfs*50 Frameshift 18/20 - 1
1-27101657-G-A c.4939G>A p.E1647K Missense 18/20 - 1
1-27101657-G-T c.4939G>T p.E1647* Nonsense 18/20 - 3
1-27101658-A-G c.4940A>G p.E1647G Missense 18/20 - 2
1-27101659-A-C c.4941A>C p.E1647D Missense 18/20 - 1
1-27101659-A-T c.4941A>T p.E1647D Missense 18/20 - 1
1-27101660-GC-AA c.4942_4943delinsAA p.A1648N Missense 18/20 - 2
1-27101660-G-T c.4942G>T p.A1648S Missense 18/20 - 1
1-27101661-C-T c.4943C>T p.A1648V Missense 18/20 - 2
1-27101662-C-CA c.4945dup p.T1649Nfs*49 Frameshift 18/20 - 1
1-27101665-A-G c.4947A>G p.T1649= Synonymous 18/20 - 2
1-27101665-A-T c.4947A>T p.T1649= Synonymous 18/20 - 1
1-27101666-C-G c.4948C>G p.Q1650E Missense 18/20 - 3
1-27101666-C-T c.4948C>T p.Q1650* Nonsense 18/20 - 5
1-27101668-G-A c.4950G>A p.Q1650= Synonymous 18/20 - 2
1-27101668-G-T c.4950G>T p.Q1650H Missense 18/20 - 1
1-27101669-C-T c.4951C>T p.P1651S Missense 18/20 - 4
1-27101668-GC-G c.4952del p.P1651Lfs*3 Frameshift 18/20 - 1
1-27101670-C-T c.4952C>T p.P1651L Missense 18/20 - 1
1-27101672-G-A c.4954G>A p.V1652M Missense 18/20 - 1
1-27101672-G-C c.4954G>C p.V1652L Missense 18/20 - 1
1-27101672-G-T c.4954G>T p.V1652L Missense 18/20 - 2
1-27101673-T-C c.4955T>C p.V1652A Missense 18/20 - 2
1-27101678-A-T c.4960A>T p.K1654* Nonsense 18/20 - 1
1-27101681-C-T c.4963C>T p.Q1655* Nonsense 18/20 - 4
1-27101683-G-A c.4965G>A p.Q1655= Synonymous 18/20 - 1
1-27101683-G-C c.4965G>C p.Q1655H Missense 18/20 - 2
1-27101683-G-T c.4965G>T p.Q1655H Missense 18/20 - 2
1-27101685-G-A c.4967G>A p.R1656K Missense 18/20 - 1
1-27101685-G-GT c.4967_4968insT p.R1656Sfs*42 Frameshift 18/20 - 1
1-27101685-G-T c.4967G>T p.R1656M Missense 18/20 - 1
1-27101686-G-C c.4968G>C p.R1656S Missense 18/20 - 1
1-27101686-G-T c.4968G>T p.R1656S Missense 18/20 - 3
1-27101687-A-C c.4969A>C p.R1657= Synonymous 18/20 - 1
1-27101687-A-G c.4969A>G p.R1657G Missense 18/20 - 1
1-27101689-G-C c.4971G>C p.R1657S Missense 18/20 - 1
1-27101689-G-T c.4971G>T p.R1657S Missense 18/20 - 1
1-27101690-C-T c.4972C>T p.R1658W Missense 18/20 - 7
1-27101691-G-A c.4973G>A p.R1658Q Missense 18/20 - 6
1-27101691-G-T c.4973G>T p.R1658L Missense 18/20 - 1
1-27101693-C-T c.4975C>T p.L1659F Missense 18/20 - 1
1-27101694-T-G c.4976T>G p.L1659R Missense 18/20 - 1
1-27101697-C-CA c.4981dup p.M1661Nfs*37 Frameshift 18/20 - 1
1-27101699-A-G c.4981A>G p.M1661V Missense 18/20 - 4
1-27101699-A-AT c.4982dup p.M1661Ifs*37 Frameshift 18/20 - 1
1-27101700-T-C c.4982T>C p.M1661T Missense 18/20 - 1
1-27101701-G-A c.4983G>A p.M1661I Missense 18/20 - 3
1-27101701-G-C c.4983G>C p.M1661I Missense 18/20 - 3
1-27101701-G-T c.4983G>T p.M1661I Missense 18/20 - 2
1-27101702-A-T c.4984A>T p.K1662* Nonsense 18/20 - 1
1-27101701-GAA-G c.4985_4986del p.K1662Rfs*35 Frameshift 18/20 - 1
1-27101705-G-A c.4987G>A p.D1663N Missense 18/20 - 1
1-27101705-G-C c.4987G>C p.D1663H Missense 18/20 - 2
1-27101705-G-T c.4987G>T p.D1663Y Missense 18/20 - 1
1-27101708-A-G c.4990A>G p.I1664V Missense 18/20 - 1
1-27101709-T-C c.4991T>C p.I1664T Missense 18/20 - 1
1-27101708-A-AT c.4992dup p.G1665Wfs*33 SpliceDonorInsertion 18/20 - 1
1-27101710-T-TA c.4992_4993insA p.G1665Rfs*33 SpliceDonorInsertion 18/20 - 1
1-27101710-T-TC c.4992_4993insC p.G1665Rfs*33 SpliceDonorInsertion 18/20 - 1
1-27101708-ATTGGTAAGGAGATCTTCCTCATTCGGTTGCCTAATCTGCCCCT-A c.4993_4993+42del - SpliceDonorDeletion 18/20 18/19 1
1-27101709-TTGG-T c.4993_4993+2del - SpliceDonorDeletion 18/20 18/19 1
1-27101711-G-T c.4993G>T p.G1665* Nonsense 18/20 - 1
1-27101712-G-A c.4993+1G>A - IntronicSNV - 18/19 6
1-27101712-G-T c.4993+1G>T - IntronicSNV - 18/19 2
1-27101713-T-C c.4993+2T>C - IntronicSNV - 18/19 1
1-27101713-T-G c.4993+2T>G - IntronicSNV - 18/19 1
1-27101716-G-A c.4993+5G>A - IntronicSNV - 18/19 1
1-27102068-G-GA c.4996dup p.T1666Nfs*32 Frameshift 19/20 - 1
1-27102071-C-A c.4997C>A p.T1666N Missense 19/20 - 1
1-27102071-C-T c.4997C>T p.T1666I Missense 19/20 - 4
1-27102073-C-T c.4999C>T p.P1667S Missense 19/20 - 3
1-27102070-AC-A c.5000del p.P1667Rfs*6 Frameshift 19/20 - 1
1-27102074-C-A c.5000C>A p.P1667Q Missense 19/20 - 1
1-27102074-C-T c.5000C>T p.P1667L Missense 19/20 - 3
1-27102075-G-A c.5001G>A p.P1667= Synonymous 19/20 - 3
1-27102075-G-C c.5001G>C p.P1667= Synonymous 19/20 - 2
1-27102075-G-T c.5001G>T p.P1667= Synonymous 19/20 - 2
1-27102076-G-A c.5002G>A p.E1668K Missense 19/20 - 1
1-27102076-G-T c.5002G>T p.E1668* Nonsense 19/20 - 6
1-27102076-G-GA c.5003dup p.A1669Gfs*29 Frameshift 19/20 - 1
1-27102077-A-G c.5003A>G p.E1668G Missense 19/20 - 1
1-27102076-GAGGC-G c.5004_5007del p.E1668Dfs*4 Frameshift 19/20 - 1
1-27102078-G-C c.5004G>C p.E1668D Missense 19/20 - 1
1-27102078-G-T c.5004G>T p.E1668D Missense 19/20 - 1
1-27102080-C-G c.5006C>G p.A1669G Missense 19/20 - 1
1-27102083-G-A c.5009G>A p.W1670* Nonsense 19/20 - 5
1-27102084-G-A c.5010G>A p.W1670* Nonsense 19/20 - 6
1-27102085-C-A c.5011C>A p.R1671= Synonymous 19/20 - 1
1-27102085-C-T c.5011C>T p.R1671W Missense 19/20 - 3
1-27102086-G-A c.5012G>A p.R1671Q Missense 19/20 - 3
1-27102086-G-T c.5012G>T p.R1671L Missense 19/20 - 2
1-27102085-CG-C c.5014del p.V1672* Frameshift 19/20 - 2
1-27102088-G-A c.5014G>A p.V1672I Missense 19/20 - 1
1-27102089-T-G c.5015T>G p.V1672G Missense 19/20 - 5
1-27102086-GGGTAATGATGTCCCTCAAGTCT-G c.5016_5037del p.M1673Sfs*9 Frameshift 19/20 - 4
1-27102092-T-A c.5018T>A p.M1673K Missense 19/20 - 1
1-27102092-T-C c.5018T>C p.M1673T Missense 19/20 - 1
1-27102092-T-G c.5018T>G p.M1673R Missense 19/20 - 1
1-27102093-G-A c.5019G>A p.M1673I Missense 19/20 - 4
1-27102093-G-C c.5019G>C p.M1673I Missense 19/20 - 1
1-27102093-G-T c.5019G>T p.M1673I Missense 19/20 - 1
1-27102093-TG-T c.5019del p.M1673Ifs*16 Frameshift 19/20 - 2
1-27102097-T-C c.5023T>C p.S1675P Missense 19/20 - 1
1-27102099-C-T c.5025C>T p.S1675= Synonymous 19/20 - 1
1-27102102-C-T c.5028C>T p.L1676= Synonymous 19/20 - 1
1-27102103-A-G c.5029A>G p.K1677E Missense 19/20 - 1
1-27102103-A-T c.5029A>T p.K1677* Nonsense 19/20 - 2
1-27102105-G-T c.5031G>T p.K1677N Missense 19/20 - 1
1-27102106-TC-CT c.5032_5033delinsCT p.S1678L Missense 19/20 - 1
1-27102107-C-G c.5033C>G p.S1678C Missense 19/20 - 1
1-27102106-TCTGGTCTCCTGG-T c.5034_5045del p.G1679_A1682del InFrameDeletion 19/20 - 1
1-27102104-AGTCTG-A c.5035_5039del p.G1679Pfs*17 Frameshift 19/20 - 5
1-27102109-G-A c.5035G>A p.G1679S Missense 19/20 - 1
1-27102109-G-C c.5035G>C p.G1679R Missense 19/20 - 1
1-27102112-C-G c.5038C>G p.L1680V Missense 19/20 - 1
1-27102112-C-T c.5038C>T p.L1680F Missense 19/20 - 1
1-27102112-TC-T c.5038del p.L1680Sfs*9 Frameshift 19/20 - 1
1-27102114-C-A c.5040C>A p.L1680= Synonymous 19/20 - 1
1-27102114-C-G c.5040C>G p.L1680= Synonymous 19/20 - 1
1-27102114-C-T c.5040C>T p.L1680= Synonymous 19/20 - 2
1-27102115-C-T c.5041C>T p.L1681= Synonymous 19/20 - 1
1-27102116-CTGGCAGAGAGCACATGGGCATTAG-C c.5042_5065del p.L1681_D1689delinsH MultiAAMissense 19/20 - 2
1-27102118-G-A c.5044G>A p.A1682T Missense 19/20 - 2
1-27102120-A-AT c.5046_5047insT p.E1683* Nonsense 19/20 - 2
1-27102121-AGAGAGCACATGGGCAT-A c.5047_5062del p.E1683* Frameshift 19/20 - 1
1-27102121-G-A c.5047G>A p.E1683K Missense 19/20 - 6
1-27102121-G-C c.5047G>C p.E1683Q Missense 19/20 - 7
1-27102121-G-T c.5047G>T p.E1683* Nonsense 19/20 - 2
1-27102123-G-C c.5049G>C p.E1683D Missense 19/20 - 1
1-27102123-G-T c.5049G>T p.E1683D Missense 19/20 - 1
1-27102126-C-T c.5052C>T p.S1684= Synonymous 19/20 - 1
1-27102129-A-G c.5055A>G p.T1685= Synonymous 19/20 - 2
1-27102131-G-A c.5057G>A p.W1686* Nonsense 19/20 - 7
1-27102132-G-A c.5058G>A p.W1686* Nonsense 19/20 - 8
1-27102130-TGG-T c.5058_5059del p.W1686Cfs*11 Frameshift 19/20 - 2
1-27102133-G-T c.5059G>T p.A1687S Missense 19/20 - 1
1-27102134-GC-G c.5060del p.A1687Dfs*2 Frameshift 19/20 - 2
1-27102135-A-C c.5061A>C p.A1687= Synonymous 19/20 - 2
1-27102135-A-G c.5061A>G p.A1687= Synonymous 19/20 - 2
1-27102135-A-T c.5061A>T p.A1687= Synonymous 19/20 - 2
1-27102137-T-A c.5063T>A p.L1688* Nonsense 19/20 - 1
1-27102137-T-G c.5063T>G p.L1688* Nonsense 19/20 - 2
1-27102138-TA-T c.5064del p.D1689Ifs*14 Frameshift 19/20 - 1
1-27102139-G-A c.5065G>A p.D1689N Missense 19/20 - 3
1-27102139-G-T c.5065G>T p.D1689Y Missense 19/20 - 1
1-27102141-T-TA c.5068dup p.T1690Nfs*8 Frameshift 19/20 - 2
1-27102142-A-G c.5068A>G p.T1690A Missense 19/20 - 1
1-27102143-C-A c.5069C>A p.T1690N Missense 19/20 - 8
1-27102144-C-A c.5070C>A p.T1690= Synonymous 19/20 - 1
1-27102145-A-G c.5071A>G p.I1691V Missense 19/20 - 1
1-27102146-AT-A c.5072del p.I1691Tfs*12 Frameshift 19/20 - 1
1-27102148-A-T c.5074A>T p.N1692Y Missense 19/20 - 1
1-27102149-A-G c.5075A>G p.N1692S Missense 19/20 - 1
1-27102150-C-T c.5076C>T p.N1692= Synonymous 19/20 - 2
1-27102153-C-G c.5079C>G p.I1693M Missense 19/20 - 1
1-27102152-TC-T c.5080del p.L1694Cfs*9 Frameshift 19/20 - 4
1-27102157-C-A c.5083C>A p.L1695M Missense 19/20 - 1
1-27102158-T-TG c.5085dup p.Y1696Vfs*2 Frameshift 19/20 - 1
1-27102159-G-A c.5085G>A p.L1695= Synonymous 19/20 - 1
1-27102160-T-C c.5086T>C p.Y1696H Missense 19/20 - 1
1-27102162-T-G c.5088T>G p.Y1696* Nonsense 19/20 - 1
1-27102163-G-A c.5089G>A p.D1697N Missense 19/20 - 1
1-27102163-TGA-T c.5089_5090del p.D1697* Frameshift 19/20 - 1
1-27102164-A-G c.5090A>G p.D1697G Missense 19/20 - 5
1-27102164-A-T c.5090A>T p.D1697V Missense 19/20 - 1
1-27102165-T-A c.5091T>A p.D1697E Missense 19/20 - 1
1-27102166-G-A c.5092G>A p.D1698N Missense 19/20 - 1
1-27102166-G-C c.5092G>C p.D1698H Missense 19/20 - 1
1-27102167-A-G c.5093A>G p.D1698G Missense 19/20 - 3
1-27102169-A-C c.5095A>C p.N1699H Missense 19/20 - 1
1-27102170-A-G c.5096A>G p.N1699S Missense 19/20 - 2
1-27102171-C-A c.5097C>A p.N1699K Missense 19/20 - 1
1-27102171-C-T c.5097C>T p.N1699= Synonymous 19/20 - 1
1-27102173-G-A c.5099G>A p.S1700N Missense 19/20 - 1
1-27102175-A-C c.5101A>C p.I1701L Missense 19/20 - 1
1-27102175-A-G c.5101A>G p.I1701V Missense 19/20 - 1
1-27102177-C-A c.5103C>A p.I1701= Synonymous 19/20 - 1
1-27102177-C-T c.5103C>T p.I1701= Synonymous 19/20 - 1
1-27102180-G-A c.5106G>A p.M1702I Missense 19/20 - 2
1-27102182-C-A c.5108C>A p.T1703N Missense 19/20 - 2
1-27102182-C-G c.5108C>G p.T1703S Missense 19/20 - 1
1-27102183-C-CAGA c.5109_5110insAGA p.T1703_F1704insR InFrameInsertion 19/20 - 1
1-27102184-T-C c.5110T>C p.F1704L Missense 19/20 - 2
1-27102186-C-A c.5112C>A p.F1704L Missense 19/20 - 2
1-27102186-C-G c.5112C>G p.F1704L Missense 19/20 - 2
1-27102186-C-T c.5112C>T p.F1704= Synonymous 19/20 - 2
1-27102186-TC-T c.5112del p.F1704Lfs*10 Frameshift 19/20 - 1
1-27102187-A-G c.5113A>G p.N1705D Missense 19/20 - 3
1-27102188-A-C c.5114A>C p.N1705T Missense 19/20 - 2
1-27102188-A-G c.5114A>G p.N1705S Missense 19/20 - 10
1-27102190-C-G c.5116C>G p.L1706V Missense 19/20 - 1
1-27102190-C-T c.5116C>T p.L1706F Missense 19/20 - 1
1-27102191-TC-AA c.5117_5118delinsAA p.L1706Q Missense 19/20 - 1
1-27102191-T-G c.5117T>G p.L1706R Missense 19/20 - 1
1-27102192-TCA-T c.5118_5119del p.Q1708Afs*18 Frameshift 19/20 - 1
1-27102193-A-G c.5119A>G p.S1707G Missense 19/20 - 1
1-27102193-A-T c.5119A>T p.S1707C Missense 19/20 - 2
1-27102194-G-A c.5120G>A p.S1707N Missense 19/20 - 2
1-27102196-C-T c.5122C>T p.Q1708* Nonsense 19/20 - 13
1-27102197-A-G c.5123A>G p.Q1708R Missense 19/20 - 1
1-27102199-G-A c.5124+1G>A - IntronicSNV - 19/19 1
1-27102199-G-T c.5124+1G>T - IntronicSNV - 19/19 1
1-27102201-G-A c.5124+3G>A - IntronicSNV - 19/19 1
1-27102203-G-C c.5124+5G>C - IntronicSNV - 19/19 1
1-27102214-T-G c.5124+16T>G - IntronicSNV - 19/19 1
1-27102299-C-A c.5124+101C>A - IntronicSNV - 19/19 1
1-27102351-G-A c.5124+153G>A - IntronicSNV - 19/19 1
1-27102537-C-T c.5124+339C>T - IntronicSNV - 19/19 1
1-27105509-T-C c.5125-5T>C - IntronicSNV - 19/19 1
1-27105511-TAGCTCCC-T c.5125_5131del p.L1709Gfs*3 SpliceAcceptorDeletion 20/20 - 1
1-27105514-C-G c.5125C>G p.L1709V Missense 20/20 - 1
1-27105514-C-T c.5125C>T p.L1709F Missense 20/20 - 1
1-27105515-T-C c.5126T>C p.L1709P Missense 20/20 - 1
1-27105517-C-T c.5128C>T p.P1710S Missense 20/20 - 1
1-27105518-C-T c.5129C>T p.P1710L Missense 20/20 - 3
1-27105521-G-C c.5132G>C p.G1711A Missense 20/20 - 3
1-27105521-G-T c.5132G>T p.G1711V Missense 20/20 - 1
1-27105522-G-GT c.5135dup p.L1712Ffs*15 Frameshift 20/20 - 2
1-27105522-GT-G c.5135del p.L1712Cfs*2 Frameshift 20/20 - 1
1-27105527-T-C c.5138T>C p.L1713P Missense 20/20 - 8
1-27105526-CTAGAGCTCCTTGTAGAATAT-C c.5139_5158del p.E1714Pfs*6 Frameshift 20/20 - 1
1-27105529-G-C c.5140G>C p.E1714Q Missense 20/20 - 2
1-27105529-G-T c.5140G>T p.E1714* Nonsense 20/20 - 2
1-27105531-G-A c.5142G>A p.E1714= Synonymous 20/20 - 1
1-27105531-G-T c.5142G>T p.E1714D Missense 20/20 - 2
1-27105532-C-T c.5143C>T p.L1715F Missense 20/20 - 2
1-27105535-C-T c.5146C>T p.L1716F Missense 20/20 - 1
1-27105540-A-G c.5151A>G p.V1717= Synonymous 20/20 - 1
1-27105541-G-A c.5152G>A p.E1718K Missense 20/20 - 1
1-27105541-GA-AC c.5152_5153delinsAC p.E1718T Missense 20/20 - 1
1-27105541-G-T c.5152G>T p.E1718* Nonsense 20/20 - 6
1-27105542-A-AT c.5153_5154insT p.E1718Dfs*9 Frameshift 20/20 - 1
1-27105542-A-C c.5153A>C p.E1718A Missense 20/20 - 1
1-27105542-A-G c.5153A>G p.E1718G Missense 20/20 - 1
1-27105544-T-C c.5155T>C p.Y1719H Missense 20/20 - 1
1-27105545-A-G c.5156A>G p.Y1719C Missense 20/20 - 1
1-27105546-T-A c.5157T>A p.Y1719* Nonsense 20/20 - 1
1-27105546-T-G c.5157T>G p.Y1719* Nonsense 20/20 - 2
1-27105547-T-C c.5158T>C p.F1720L Missense 20/20 - 2
1-27105547-T-G c.5158T>G p.F1720V Missense 20/20 - 1
1-27105549-C-A c.5160C>A p.F1720L Missense 20/20 - 1
1-27105549-C-G c.5160C>G p.F1720L Missense 20/20 - 1
1-27105545-AT-A c.5159del p.F1720Sfs*5 Frameshift 20/20 - 1
1-27105548-TC-T c.5161del p.R1721Dfs*4 Frameshift 20/20 - 1
1-27105550-CG-AA c.5161_5162delinsAA p.R1721K Missense 20/20 - 1
1-27105550-C-T c.5161C>T p.R1721* Nonsense 20/20 - 39
1-27105551-CG-C c.5162del p.R1721Hfs*4 Frameshift 20/20 - 3
1-27105551-G-A c.5162G>A p.R1721Q Missense 20/20 - 4
1-27105551-G-C c.5162G>C p.R1721P Missense 20/20 - 6
1-27105553-C-A c.5164C>A p.R1722= Synonymous 20/20 - 1
1-27105553-C-T c.5164C>T p.R1722* Nonsense 20/20 - 55
1-27105555-A-C c.5166A>C p.R1722= Synonymous 20/20 - 1
1-27105555-A-G c.5166A>G p.R1722= Synonymous 20/20 - 1
1-27105555-A-T c.5166A>T p.R1722= Synonymous 20/20 - 1
1-27105554-G-A c.5165G>A p.R1722Q Missense 20/20 - 2
1-27105554-G-C c.5165G>C p.R1722P Missense 20/20 - 1
1-27105554-G-T c.5165G>T p.R1722L Missense 20/20 - 2
1-27105558-C-A c.5169C>A p.C1723* Nonsense 20/20 - 1
1-27105558-C-T c.5169C>T p.C1723= Synonymous 20/20 - 1
1-27105559-C-CGA c.5170_5171insGA p.L1724Rfs*2 Frameshift 20/20 - 1
1-27105560-T-C c.5171T>C p.L1724P Missense 20/20 - 1
1-27105560-T-G c.5171T>G p.L1724R Missense 20/20 - 2
1-27105559-C-T c.5170C>T p.L1724= Synonymous 20/20 - 1
1-27105561-G-A c.5172G>A p.L1724= Synonymous 20/20 - 2
1-27105561-G-C c.5172G>C p.L1724= Synonymous 20/20 - 2
1-27105561-G-T c.5172G>T p.L1724= Synonymous 20/20 - 1
1-27105564-T-A c.5175T>A p.I1725= Synonymous 20/20 - 1
1-27105564-T-C c.5175T>C p.I1725= Synonymous 20/20 - 3
1-27105565-G-A c.5176G>A p.E1726K Missense 20/20 - 1
1-27105565-G-T c.5176G>T p.E1726* Nonsense 20/20 - 5
1-27105566-GA-G c.5177del p.E1726Gfs*6 Frameshift 20/20 - 1
1-27105567-G-A c.5178G>A p.E1726= Synonymous 20/20 - 1
1-27105567-G-C c.5178G>C p.E1726D Missense 20/20 - 1
1-27105567-G-T c.5178G>T p.E1726D Missense 20/20 - 1
1-27105568-ATC-A c.5181_5182del p.F1728Wfs*7 Frameshift 20/20 - 2
1-27105570-C-A c.5181C>A p.I1727= Synonymous 20/20 - 2
1-27105570-C-G c.5181C>G p.I1727M Missense 20/20 - 1
1-27105570-C-T c.5181C>T p.I1727= Synonymous 20/20 - 2
1-27105570-CTT-C c.5183_5184del p.F1728Wfs*7 Frameshift 20/20 - 1
1-27105572-T-C c.5183T>C p.F1728S Missense 20/20 - 1
1-27105570-C-CT c.5184dup p.G1729Wfs*7 Frameshift 20/20 - 1
1-27105574-G-A c.5185G>A p.G1729S Missense 20/20 - 1
1-27105575-G-A c.5186G>A p.G1729D Missense 20/20 - 1
1-27105575-G-C c.5186G>C p.G1729A Missense 20/20 - 1
1-27105581-T-A c.5192T>A p.L1731* Nonsense 20/20 - 1
1-27105581-T-G c.5192T>G p.L1731* Nonsense 20/20 - 2
1-27105583-A-C c.5194A>C p.K1732Q Missense 20/20 - 1
1-27105581-T-TA c.5195dup p.E1733Gfs*3 Frameshift 20/20 - 1
1-27105584-A-C c.5195A>C p.K1732T Missense 20/20 - 1
1-27105584-A-T c.5195A>T p.K1732M Missense 20/20 - 1
1-27105584-A-AG c.5197dup p.E1733Gfs*3 Frameshift 20/20 - 2
1-27105586-G-T c.5197G>T p.E1733* Nonsense 20/20 - 10
1-27105587-A-AG c.5199dup p.Y1734Vfs*2 Frameshift 20/20 - 1
1-27105588-G-A c.5199G>A p.E1733= Synonymous 20/20 - 1
1-27105589-TAT-GACAGC c.5200_5202delinsGACAGC p.Y1734delinsDS MultiAAMissense 20/20 - 1
1-27105591-AT-A c.5202del p.Y1734* Frameshift 20/20 - 1
1-27105591-T-A c.5202T>A p.Y1734* Nonsense 20/20 - 1
1-27105591-T-C c.5202T>C p.Y1734= Synonymous 20/20 - 1
1-27105591-T-G c.5202T>G p.Y1734* Nonsense 20/20 - 1
1-27105592-G-A c.5203G>A p.E1735K Missense 20/20 - 2
1-27105592-G-C c.5203G>C p.E1735Q Missense 20/20 - 3
1-27105592-G-T c.5203G>T p.E1735* Nonsense 20/20 - 1
1-27105594-G-A c.5205G>A p.E1735= Synonymous 20/20 - 1
1-27105594-G-C c.5205G>C p.E1735D Missense 20/20 - 1
1-27105594-G-T c.5205G>T p.E1735D Missense 20/20 - 1
1-27105595-G-A c.5206G>A p.V1736M Missense 20/20 - 1
1-27105595-GT-TA c.5206_5207delinsTA p.V1736* Nonsense 20/20 - 1
1-27105597-G-A c.5208G>A p.V1736= Synonymous 20/20 - 1
1-27105598-G-A c.5209G>A p.G1737S Missense 20/20 - 2
1-27105599-G-A c.5210G>A p.G1737D Missense 20/20 - 1
1-27105600-T-G c.5211T>G p.G1737= Synonymous 20/20 - 1
1-27105601-G-A c.5212G>A p.D1738N Missense 20/20 - 1
1-27105601-G-C c.5212G>C p.D1738H Missense 20/20 - 1
1-27105603-C-A c.5214C>A p.D1738E Missense 20/20 - 3
1-27105604-C-T c.5215C>T p.P1739S Missense 20/20 - 3
1-27105607-G-T c.5218G>T p.G1740* Nonsense 20/20 - 2
1-27105608-G-A c.5219G>A p.G1740E Missense 20/20 - 2
1-27105609-A-C c.5220A>C p.G1740= Synonymous 20/20 - 1
1-27105609-A-G c.5220A>G p.G1740= Synonymous 20/20 - 1
1-27105609-A-T c.5220A>T p.G1740= Synonymous 20/20 - 1
1-27105610-C-T c.5221C>T p.Q1741* Nonsense 20/20 - 7
1-27105611-A-T c.5222A>T p.Q1741L Missense 20/20 - 1
1-27105612-G-GT c.5223_5224insT p.R1742* Nonsense 20/20 - 1
1-27105614-G-A c.5225G>A p.R1742K Missense 20/20 - 1
1-27105614-G-C c.5225G>C p.R1742T Missense 20/20 - 3
1-27105614-G-T c.5225G>T p.R1742I Missense 20/20 - 1
1-27105614-GA-G c.5227del p.T1743Rfs*27 Frameshift 20/20 - 1
1-27105616-A-C c.5227A>C p.T1743P Missense 20/20 - 2
1-27105616-A-G c.5227A>G p.T1743A Missense 20/20 - 1
1-27105617-C-A c.5228C>A p.T1743K Missense 20/20 - 2
1-27105617-C-T c.5228C>T p.T1743M Missense 20/20 - 11
1-27105623-T-C c.5234T>C p.L1745P Missense 20/20 - 1
1-27105623-T-G c.5234T>G p.L1745R Missense 20/20 - 1
1-27105624-G-A c.5235G>A p.L1745= Synonymous 20/20 - 1
1-27105624-G-T c.5235G>T p.L1745= Synonymous 20/20 - 1
1-27105623-TG-T c.5236del p.D1746Ifs*24 Frameshift 20/20 - 1
1-27105625-G-A c.5236G>A p.D1746N Missense 20/20 - 1
1-27105626-A-G c.5237A>G p.D1746G Missense 20/20 - 1
1-27105627-T-C c.5238T>C p.D1746= Synonymous 20/20 - 1
1-27105628-C-T c.5239C>T p.P1747S Missense 20/20 - 8
1-27105631-G-A c.5242G>A p.G1748R Missense 20/20 - 2
1-27105631-G-C c.5242G>C p.G1748R Missense 20/20 - 3
1-27105631-G-T c.5242G>T p.G1748W Missense 20/20 - 2
1-27105633-G-A c.5244G>A p.G1748= Synonymous 20/20 - 1
1-27105634-AG-CA c.5245_5246delinsCA p.R1749Q Missense 20/20 - 1
1-27105634-AG-TA c.5245_5246delinsTA p.R1749* Nonsense 20/20 - 1
1-27105635-G-A c.5246G>A p.R1749K Missense 20/20 - 3
1-27105635-G-T c.5246G>T p.R1749M Missense 20/20 - 1
1-27105634-AG-A c.5247del p.R1749Sfs*21 Frameshift 20/20 - 1
1-27105636-G-A c.5247G>A p.R1749= Synonymous 20/20 - 2
1-27105636-G-T c.5247G>T p.R1749S Missense 20/20 - 2
1-27105637-T-A c.5248T>A p.F1750I Missense 20/20 - 1
1-27105636-G-GT c.5249dup p.S1751Qfs*5 Frameshift 20/20 - 1
1-27105638-T-A c.5249T>A p.F1750Y Missense 20/20 - 1
1-27105641-G-A c.5252G>A p.S1751N Missense 20/20 - 1
1-27105641-G-C c.5252G>C p.S1751T Missense 20/20 - 2
1-27105642-C-G c.5253C>G p.S1751R Missense 20/20 - 1
1-27105642-C-T c.5253C>T p.S1751= Synonymous 20/20 - 1
1-27105643-A-C c.5254A>C p.K1752Q Missense 20/20 - 1
1-27105643-A-G c.5254A>G p.K1752E Missense 20/20 - 1
1-27105645-G-C c.5256G>C p.K1752N Missense 20/20 - 1
1-27105645-G-T c.5256G>T p.K1752N Missense 20/20 - 1
1-27105644-AG-A c.5257del p.V1753Cfs*17 Frameshift 20/20 - 2
1-27105646-G-A c.5257G>A p.V1753M Missense 20/20 - 2
1-27105649-GT-G c.5260del p.S1754Lfs*16 Frameshift 20/20 - 1
1-27105649-T-A c.5260T>A p.S1754T Missense 20/20 - 2
1-27105650-C-A c.5261C>A p.S1754Y Missense 20/20 - 1
1-27105650-C-T c.5261C>T p.S1754F Missense 20/20 - 1
1-27105651-T-TA c.5263dup p.S1755Kfs*18 Frameshift 20/20 - 1
1-27105653-G-C c.5264G>C p.S1755T Missense 20/20 - 1
1-27105654-T-C c.5265T>C p.S1755= Synonymous 20/20 - 1
1-27105655-C-G c.5266C>G p.P1756A Missense 20/20 - 1
1-27105655-C-T c.5266C>T p.P1756S Missense 20/20 - 4
1-27105654-T-TC c.5267dup p.A1757Sfs*16 Frameshift 20/20 - 1
1-27105656-C-G c.5267C>G p.P1756R Missense 20/20 - 2
1-27105658-G-A c.5269G>A p.A1757T Missense 20/20 - 1
1-27105658-G-C c.5269G>C p.A1757P Missense 20/20 - 5
1-27105658-G-T c.5269G>T p.A1757S Missense 20/20 - 5
1-27105659-C-A c.5270C>A p.A1757D Missense 20/20 - 1
1-27105659-C-T c.5270C>T p.A1757V Missense 20/20 - 3
1-27105660-T-A c.5271T>A p.A1757= Synonymous 20/20 - 1
1-27105660-T-C c.5271T>C p.A1757= Synonymous 20/20 - 1
1-27105660-T-G c.5271T>G p.A1757= Synonymous 20/20 - 1
1-27105661-C-T c.5272C>T p.P1758S Missense 20/20 - 3
1-27105661-TCCCATGGAGGGTGGGGA-T c.5272_5288del p.P1758Rfs*9 Frameshift 20/20 - 2
1-27105662-C-G c.5273C>G p.P1758R Missense 20/20 - 2
1-27105664-A-G c.5275A>G p.M1759V Missense 20/20 - 3
1-27105664-A-AT c.5276dup p.M1759Ifs*14 Frameshift 20/20 - 1
1-27105665-T-G c.5276T>G p.M1759R Missense 20/20 - 1
1-27105666-G-A c.5277G>A p.M1759I Missense 20/20 - 1
1-27105666-G-C c.5277G>C p.M1759I Missense 20/20 - 2
1-27105666-G-GT c.5277_5278insT p.E1760* Nonsense 20/20 - 1
1-27105665-T-TG c.5278dup p.E1760Gfs*13 Frameshift 20/20 - 1
1-27105667-GAG-ATCCAA c.5278_5280delinsATCCAA p.E1760delinsIQ MultiAAMissense 20/20 - 1
1-27105667-GAGGGTGGGGAAGAAGAAGAAGAACTTCTAGGTCCTAAACTAG-TAA c.5278_5320delinsTAA p.E1760* Frameshift 20/20 - 1
1-27105667-G-T c.5278G>T p.E1760* Nonsense 20/20 - 12
1-27105670-G-A c.5281G>A p.G1761S Missense 20/20 - 1
1-27105670-G-T c.5281G>T p.G1761C Missense 20/20 - 4
1-27105671-G-A c.5282G>A p.G1761D Missense 20/20 - 1
1-27105673-G-GT c.5284_5285insT p.G1762Vfs*11 Frameshift 20/20 - 1
1-27105674-G-A c.5285G>A p.G1762E Missense 20/20 - 1
1-27105675-G-GT c.5286_5287insT p.E1763* Nonsense 20/20 - 2
1-27105676-G-A c.5287G>A p.E1763K Missense 20/20 - 1
1-27105676-G-C c.5287G>C p.E1763Q Missense 20/20 - 1
1-27105676-G-T c.5287G>T p.E1763* Nonsense 20/20 - 2
1-27105678-A-C c.5289A>C p.E1763D Missense 20/20 - 1
1-27105678-A-T c.5289A>T p.E1763D Missense 20/20 - 1
1-27105679-G-A c.5290G>A p.E1764K Missense 20/20 - 2
1-27105679-G-T c.5290G>T p.E1764* Nonsense 20/20 - 7
1-27105682-G-A c.5293G>A p.E1765K Missense 20/20 - 3
1-27105682-G-T c.5293G>T p.E1765* Nonsense 20/20 - 4
1-27105683-A-G c.5294A>G p.E1765G Missense 20/20 - 3
1-27105684-A-AT c.5295_5296insT p.E1766* Nonsense 20/20 - 1
1-27105684-A-C c.5295A>C p.E1765D Missense 20/20 - 3
1-27105685-G-T c.5296G>T p.E1766* Nonsense 20/20 - 3
1-27105686-A-G c.5297A>G p.E1766G Missense 20/20 - 1
1-27105686-A-T c.5297A>T p.E1766V Missense 20/20 - 2
1-27105687-A-T c.5298A>T p.E1766D Missense 20/20 - 1
1-27105675-GGAA-G c.5299_5301del p.E1767del InFrameDeletion 20/20 - 10
1-27105688-G-A c.5299G>A p.E1767K Missense 20/20 - 3
1-27105688-G-C c.5299G>C p.E1767Q Missense 20/20 - 2
1-27105688-G-T c.5299G>T p.E1767* Nonsense 20/20 - 10
1-27105689-A-T c.5300A>T p.E1767V Missense 20/20 - 1
1-27105689-GAAC-G c.5300_5302del p.E1767_L1768delinsV MultiAAMissense 20/20 - 2
1-27105690-A-G c.5301A>G p.E1767= Synonymous 20/20 - 1
1-27105690-A-T c.5301A>T p.E1767D Missense 20/20 - 1
1-27105691-C-G c.5302C>G p.L1768V Missense 20/20 - 3
1-27105692-T-A c.5303T>A p.L1768H Missense 20/20 - 1
1-27105692-T-C c.5303T>C p.L1768P Missense 20/20 - 4
1-27105692-TTCTAGG-T c.5306_5311del p.L1769_G1770del InFrameDeletion 20/20 - 1
1-27105695-CTA-C c.5306_5307del p.L1769Rfs*3 Frameshift 20/20 - 1
1-27105695-T-C c.5306T>C p.L1769P Missense 20/20 - 1
1-27105697-G-A c.5308G>A p.G1770S Missense 20/20 - 1
1-27105698-G-A c.5309G>A p.G1770D Missense 20/20 - 1
1-27105698-G-T c.5309G>T p.G1770V Missense 20/20 - 4
1-27105700-C-A c.5311C>A p.P1771T Missense 20/20 - 1
1-27105700-C-T c.5311C>T p.P1771S Missense 20/20 - 14
1-27105701-C-T c.5312C>T p.P1771L Missense 20/20 - 1
1-27105703-A-G c.5314A>G p.K1772E Missense 20/20 - 4
1-27105704-A-G c.5315A>G p.K1772R Missense 20/20 - 1
1-27105702-TA-T c.5316del p.K1772Nfs*2 Frameshift 20/20 - 1
1-27105707-T-C c.5318T>C p.L1773P Missense 20/20 - 1
1-27105709-G-C c.5320G>C p.E1774Q Missense 20/20 - 1
1-27105709-G-T c.5320G>T p.E1774* Nonsense 20/20 - 2
1-27105710-A-G c.5321A>G p.E1774G Missense 20/20 - 2
1-27105711-A-T c.5322A>T p.E1774D Missense 20/20 - 1
1-27105712-G-A c.5323G>A p.E1775K Missense 20/20 - 2
1-27105712-G-T c.5323G>T p.E1775* Nonsense 20/20 - 2
1-27105713-A-G c.5324A>G p.E1775G Missense 20/20 - 2
1-27105711-AGAG-A c.5325_5327del p.E1780del InFrameDeletion 20/20 - 1
1-27105714-G-T c.5325G>T p.E1775D Missense 20/20 - 1
1-27105715-G-A c.5326G>A p.E1776K Missense 20/20 - 1
1-27105715-G-T c.5326G>T p.E1776* Nonsense 20/20 - 9
1-27105717-A-G c.5328A>G p.E1776= Synonymous 20/20 - 1
1-27105720-A-C c.5331A>C p.E1777D Missense 20/20 - 1
1-27105720-A-T c.5331A>T p.E1777D Missense 20/20 - 1
1-27105721-G-A c.5332G>A p.E1778K Missense 20/20 - 1
1-27105721-G-T c.5332G>T p.E1778* Nonsense 20/20 - 2
1-27105714-GGAA-G c.5334_5336del p.E1780del InFrameDeletion 20/20 - 2
1-27105721-G-GA c.5334dup p.E1779Rfs*5 Frameshift 20/20 - 1
1-27105723-A-G c.5334A>G p.E1778= Synonymous 20/20 - 1
1-27105724-G-A c.5335G>A p.E1779K Missense 20/20 - 1
1-27105724-G-C c.5335G>C p.E1779Q Missense 20/20 - 1
1-27105724-G-T c.5335G>T p.E1779* Nonsense 20/20 - 4
1-27105725-A-G c.5336A>G p.E1779G Missense 20/20 - 16
1-27105727-G-A c.5338G>A p.E1780K Missense 20/20 - 2
1-27105727-G-T c.5338G>T p.E1780* Nonsense 20/20 - 3
1-27105726-GGAA-G c.5339_5341del p.E1780del InFrameDeletion 20/20 - 1
1-27105729-A-G c.5340A>G p.E1780= Synonymous 20/20 - 1
1-27105730-G-A c.5341G>A p.V1781I Missense 20/20 - 1
1-27105731-T-TATAC c.5343_5344insTACA p.V1782Yfs*3 Frameshift 20/20 - 1
1-27105732-TAG-T c.5343_5344del p.V1782* Frameshift 20/20 - 1
1-27105733-G-C c.5344G>C p.V1782L Missense 20/20 - 1
1-27105733-G-T c.5344G>T p.V1782F Missense 20/20 - 1
1-27105732-AGTT-A c.5345_5347del p.V1782del InFrameDeletion 20/20 - 1
1-27105733-GTTGAAAATGA-G c.5346_5355del p.E1783Rfs*3 Frameshift 20/20 - 1
1-27105736-G-A c.5347G>A p.E1783K Missense 20/20 - 2
1-27105736-G-C c.5347G>C p.E1783Q Missense 20/20 - 1
1-27105736-G-T c.5347G>T p.E1783* Nonsense 20/20 - 2
1-27105736-TG-T c.5347del p.E1783Kfs*6 Frameshift 20/20 - 2
1-27105737-A-G c.5348A>G p.E1783G Missense 20/20 - 2
1-27105738-A-AT c.5349_5350insT p.N1784* Nonsense 20/20 - 1
1-27105738-A-C c.5349A>C p.E1783D Missense 20/20 - 1
1-27105738-A-T c.5349A>T p.E1783D Missense 20/20 - 1
1-27105736-GA-G c.5351del p.N1784Mfs*5 Frameshift 20/20 - 3
1-27105740-A-G c.5351A>G p.N1784S Missense 20/20 - 3
1-27105742-G-A c.5353G>A p.D1785N Missense 20/20 - 2
1-27105743-A-AT c.5355dup p.E1786* Nonsense 20/20 - 1
1-27105744-T-A c.5355T>A p.D1785E Missense 20/20 - 1
1-27105744-T-G c.5355T>G p.D1785E Missense 20/20 - 1
1-27105745-G-A c.5356G>A p.E1786K Missense 20/20 - 3
1-27105745-G-C c.5356G>C p.E1786Q Missense 20/20 - 2
1-27105745-G-T c.5356G>T p.E1786* Nonsense 20/20 - 2
1-27105748-G-A c.5359G>A p.E1787K Missense 20/20 - 2
1-27105748-G-C c.5359G>C p.E1787Q Missense 20/20 - 2
1-27105748-G-T c.5359G>T p.E1787* Nonsense 20/20 - 2
1-27105751-A-G c.5362A>G p.I1788V Missense 20/20 - 1
1-27105751-AT-TA c.5362_5363delinsTA p.I1788* Nonsense 20/20 - 1
1-27105752-T-C c.5363T>C p.I1788T Missense 20/20 - 2
1-27105753-A-G c.5364A>G p.I1788M Missense 20/20 - 4
1-27105754-AG-A c.5365del p.A1789Pfs*17 Frameshift 20/20 - 1
1-27105755-C-A c.5366C>A p.A1789D Missense 20/20 - 1
1-27105755-C-T c.5366C>T p.A1789V Missense 20/20 - 1
1-27105755-GCCTT-G c.5366_5369del p.A1789Vfs*16 Frameshift 20/20 - 1
1-27105756-C-T c.5367C>T p.A1789= Synonymous 20/20 - 2
1-27105756-CTT-C c.5370_5371del p.S1791Rfs*10 Frameshift 20/20 - 1
1-27105756-CT-C c.5371del p.S1791Qfs*15 Frameshift 20/20 - 1
1-27105760-T-C c.5371T>C p.S1791P Missense 20/20 - 1
1-27105761-C-A c.5372C>A p.S1791* Nonsense 20/20 - 7
1-27105761-C-G c.5372C>G p.S1791* Nonsense 20/20 - 13
1-27105761-C-T c.5372C>T p.S1791L Missense 20/20 - 6
1-27105761-C-CA c.5373dup p.G1792Rfs*10 Frameshift 20/20 - 1
1-27105765-CA-C c.5378del p.K1793Rfs*13 Frameshift 20/20 - 1
1-27105768-G-C c.5379G>C p.K1793N Missense 20/20 - 1
1-27105771-C-A c.5382C>A p.D1794E Missense 20/20 - 1
1-27105771-C-G c.5382C>G p.D1794E Missense 20/20 - 1
1-27105773-A-G c.5384A>G p.K1795R Missense 20/20 - 2
1-27105774-G-A c.5385G>A p.K1795= Synonymous 20/20 - 1
1-27105774-G-C c.5385G>C p.K1795N Missense 20/20 - 8
1-27105774-G-T c.5385G>T p.K1795N Missense 20/20 - 5
1-27105772-AAGCCAGCTTCAGAGAAT-A c.5386_5402del p.P1796* Frameshift 20/20 - 1
1-27105775-C-G c.5386C>G p.P1796A Missense 20/20 - 1
1-27105777-A-C c.5388A>C p.P1796= Synonymous 20/20 - 1
1-27105777-A-G c.5388A>G p.P1796= Synonymous 20/20 - 1
1-27105777-A-T c.5388A>T p.P1796= Synonymous 20/20 - 1
1-27105778-G-A c.5389G>A p.A1797T Missense 20/20 - 1
1-27105778-G-T c.5389G>T p.A1797S Missense 20/20 - 2
1-27105779-C-A c.5390C>A p.A1797D Missense 20/20 - 1
1-27105782-CA-TT c.5393_5394delinsTT p.S1798F Missense 20/20 - 1
1-27105782-C-G c.5393C>G p.S1798* Nonsense 20/20 - 1
1-27105782-C-T c.5393C>T p.S1798L Missense 20/20 - 1
1-27105782-CAGAG-C c.5395_5398del p.E1799Ifs*6 Frameshift 20/20 - 2
1-27105784-G-A c.5395G>A p.E1799K Missense 20/20 - 2
1-27105784-G-T c.5395G>T p.E1799* Nonsense 20/20 - 1
1-27105786-G-C c.5397G>C p.E1799D Missense 20/20 - 1
1-27105784-GAGAAT-G c.5398_5402del p.N1800* Frameshift 20/20 - 1
1-27105787-A-C c.5398A>C p.N1800H Missense 20/20 - 2
1-27105787-A-T c.5398A>T p.N1800Y Missense 20/20 - 2
1-27105789-T-C c.5400T>C p.N1800= Synonymous 20/20 - 1
1-27105789-T-TA c.5401dup p.S1801Kfs*2 Frameshift 20/20 - 1
1-27105791-G-A c.5402G>A p.S1801N Missense 20/20 - 1
1-27105791-G-C c.5402G>C p.S1801T Missense 20/20 - 2
1-27105793-G-C c.5404G>C p.E1802Q Missense 20/20 - 1
1-27105793-G-T c.5404G>T p.E1802* Nonsense 20/20 - 9
1-27105796-G-T c.5407G>T p.E1803* Nonsense 20/20 - 1
1-27105798-G-GT c.5409_5410insT p.K1804* Nonsense 20/20 - 1
1-27105800-A-G c.5411A>G p.K1804R Missense 20/20 - 3
1-27105804-G-A c.5415G>A p.L1805= Synonymous 20/20 - 1
1-27105804-GA-AG c.5415_5416delinsAG p.I1806V Missense 20/20 - 1
1-27105804-G-C c.5415G>C p.L1805= Synonymous 20/20 - 1
1-27105805-A-G c.5416A>G p.I1806V Missense 20/20 - 4
1-27105807-C-CT c.5418_5419insT p.S1807* Nonsense 20/20 - 2
1-27105807-TC-T c.5418del p.S1807Vfs*8 Frameshift 20/20 - 1
1-27105808-A-G c.5419A>G p.S1807G Missense 20/20 - 3
1-27105808-AG-TT c.5419_5420delinsTT p.S1807F Missense 20/20 - 1
1-27105809-G-A c.5420G>A p.S1807N Missense 20/20 - 1
1-27105809-GTAAGT-G c.5422_5426del p.K1808* Frameshift 20/20 - 1
1-27105812-A-T c.5423A>T p.K1808M Missense 20/20 - 1
1-27105813-G-A c.5424G>A p.K1808= Synonymous 20/20 - 2
1-27105813-GTT-G c.5426_5427del p.F1809* Frameshift 20/20 - 1
1-27105815-T-C c.5426T>C p.F1809S Missense 20/20 - 1
1-27105813-G-GT c.5427dup p.D1810* Nonsense 20/20 - 2
1-27105817-G-A c.5428G>A p.D1810N Missense 20/20 - 2
1-27105817-G-T c.5428G>T p.D1810Y Missense 20/20 - 1
1-27105818-A-G c.5429A>G p.D1810G Missense 20/20 - 1
1-27105819-C-CT c.5430_5431insT p.K1811* Nonsense 20/20 - 1
1-27105819-CA-C c.5432del p.K1811Sfs*4 Frameshift 20/20 - 1
1-27105821-A-G c.5432A>G p.K1811R Missense 20/20 - 3
1-27105821-A-T c.5432A>T p.K1811M Missense 20/20 - 1
1-27105822-G-C c.5433G>C p.K1811N Missense 20/20 - 1
1-27105823-C-T c.5434C>T p.L1812F Missense 20/20 - 1
1-27105824-T-C c.5435T>C p.L1812P Missense 20/20 - 1
1-27105826-C-T c.5437C>T p.P1813S Missense 20/20 - 2
1-27105825-TC-T c.5438del p.P1813Qfs*2 Frameshift 20/20 - 1
1-27105827-C-A c.5438C>A p.P1813Q Missense 20/20 - 1
1-27105827-C-T c.5438C>T p.P1813L Missense 20/20 - 1
1-27105828-A-AT c.5439_5440insT p.V1814Cfs*8 Frameshift 20/20 - 1
1-27105828-A-G c.5439A>G p.P1813= Synonymous 20/20 - 1
1-27105830-T-A c.5441T>A p.V1814E Missense 20/20 - 1
1-27105832-A-T c.5443A>T p.K1815* Nonsense 20/20 - 1
1-27105833-A-C c.5444A>C p.K1815T Missense 20/20 - 1
1-27105833-A-G c.5444A>G p.K1815R Missense 20/20 - 1
1-27105834-AG-A c.5445del p.I1816Sfs*67 Frameshift 20/20 - 2
1-27105834-G-A c.5445G>A p.K1815= Synonymous 20/20 - 1
1-27105834-G-T c.5445G>T p.K1815N Missense 20/20 - 1
1-27105835-A-G c.5446A>G p.I1816V Missense 20/20 - 2
1-27105837-C-G c.5448C>G p.I1816M Missense 20/20 - 2
1-27105837-C-T c.5448C>T p.I1816= Synonymous 20/20 - 1
1-27105837-TC-T c.5448del p.I1816Mfs*67 Frameshift 20/20 - 1
1-27105838-CG-C c.5449del p.V1817Yfs*66 Frameshift 20/20 - 1
1-27105838-G-A c.5449G>A p.V1817I Missense 20/20 - 8
1-27105838-G-C c.5449G>C p.V1817L Missense 20/20 - 2
1-27105838-G-T c.5449G>T p.V1817L Missense 20/20 - 2
1-27105839-T-TA c.5451dup p.Q1818Tfs*4 Frameshift 20/20 - 1
1-27105840-A-C c.5451A>C p.V1817= Synonymous 20/20 - 1
1-27105840-A-G c.5451A>G p.V1817= Synonymous 20/20 - 3
1-27105840-A-T c.5451A>T p.V1817= Synonymous 20/20 - 1
1-27105841-C-T c.5452C>T p.Q1818* Nonsense 20/20 - 4
1-27105842-A-G c.5453A>G p.Q1818R Missense 20/20 - 1
1-27105843-AG-A c.5454del p.K1819Rfs*64 Frameshift 20/20 - 1
1-27105843-G-C c.5454G>C p.Q1818H Missense 20/20 - 1
1-27105843-G-T c.5454G>T p.Q1818H Missense 20/20 - 1
1-27105844-A-T c.5455A>T p.K1819* Nonsense 20/20 - 1
1-27105843-G-GA c.5456dup p.N1820Efs*2 Frameshift 20/20 - 1
1-27105845-A-G c.5456A>G p.K1819R Missense 20/20 - 5
1-27105846-G-A c.5457G>A p.K1819= Synonymous 20/20 - 1
1-27105846-G-C c.5457G>C p.K1819N Missense 20/20 - 1
1-27105846-G-GT c.5457_5458insT p.N1820* Nonsense 20/20 - 1
1-27105846-G-T c.5457G>T p.K1819N Missense 20/20 - 1
1-27105848-AATGAT-A c.5459_5463del p.N1820Tfs*9 Frameshift 20/20 - 1
1-27105848-A-G c.5459A>G p.N1820S Missense 20/20 - 2
1-27105850-G-C c.5461G>C p.D1821H Missense 20/20 - 1
1-27105850-G-T c.5461G>T p.D1821Y Missense 20/20 - 1
1-27105851-A-C c.5462A>C p.D1821A Missense 20/20 - 1
1-27105851-A-G c.5462A>G p.D1821G Missense 20/20 - 1
1-27105852-T-C c.5463T>C p.D1821= Synonymous 20/20 - 1
1-27105852-T-G c.5463T>G p.D1821E Missense 20/20 - 1
1-27105853-C-T c.5464C>T p.P1822S Missense 20/20 - 1
1-27105854-C-CT c.5465_5466insT p.F1823Ifs*8 Frameshift 20/20 - 1
1-27105859-G-T c.5470G>T p.V1824L Missense 20/20 - 1
1-27105861-G-C c.5472G>C p.V1824= Synonymous 20/20 - 1
1-27105862-G-C c.5473G>C p.V1825L Missense 20/20 - 2
1-27105862-G-T c.5473G>T p.V1825L Missense 20/20 - 1
1-27105865-G-T c.5476G>T p.D1826Y Missense 20/20 - 3
1-27105866-A-G c.5477A>G p.D1826G Missense 20/20 - 2
1-27105868-T-G c.5479T>G p.C1827G Missense 20/20 - 3
1-27105869-G-A c.5480G>A p.C1827Y Missense 20/20 - 1
1-27105869-G-T c.5480G>T p.C1827F Missense 20/20 - 3
1-27105870-C-T c.5481C>T p.C1827= Synonymous 20/20 - 4
1-27105870-GCTCA-G c.5481_5484del p.C1827Wfs*55 Frameshift 20/20 - 1
1-27105871-T-G c.5482T>G p.S1828A Missense 20/20 - 1
1-27105872-C-A c.5483C>A p.S1828* Nonsense 20/20 - 6
1-27105872-C-G c.5483C>G p.S1828* Nonsense 20/20 - 8
1-27105872-C-T c.5483C>T p.S1828L Missense 20/20 - 2
1-27105873-AG-TC c.5484_5485delinsTC p.D1829H Missense 20/20 - 1
1-27105874-G-C c.5485G>C p.D1829H Missense 20/20 - 3
1-27105874-GAT-G c.5487_5488del p.D1829Efs*9 Frameshift 20/20 - 1
1-27105876-ATAAGCTTGGGCGT-A c.5487_5499del p.D1829Efs*50 Frameshift 20/20 - 1
1-27105877-A-C c.5488A>C p.K1830Q Missense 20/20 - 1
1-27105877-A-T c.5488A>T p.K1830* Nonsense 20/20 - 1
1-27105878-A-C c.5489A>C p.K1830T Missense 20/20 - 2
1-27105880-C-G c.5491C>G p.L1831V Missense 20/20 - 11
1-27105881-T-A c.5492T>A p.L1831H Missense 20/20 - 3
1-27105884-G-A c.5495G>A p.G1832E Missense 20/20 - 3
1-27105886-C-T c.5497C>T p.R1833C Missense 20/20 - 12
1-27105883-GGGCGTGTGCAGGAGTTTGACAGT-G c.5498_5520del p.R1833Pfs*13 Frameshift 20/20 - 1
1-27105886-C-CG c.5498dup p.V1834Cfs*5 Frameshift 20/20 - 3
1-27105887-G-A c.5498G>A p.R1833H Missense 20/20 - 6
1-27105888-T-C c.5499T>C p.R1833= Synonymous 20/20 - 1
1-27105890-T-C c.5501T>C p.V1834A Missense 20/20 - 1
1-27105891-G-GC c.5503dup p.Q1835Pfs*4 Frameshift 20/20 - 1
1-27105892-C-T c.5503C>T p.Q1835* Nonsense 20/20 - 12
1-27105893-A-G c.5504A>G p.Q1835R Missense 20/20 - 2
1-27105893-A-T c.5504A>T p.Q1835L Missense 20/20 - 1
1-27105894-G-GT c.5505_5506insT p.E1836* Nonsense 20/20 - 2
1-27105893-AG-A c.5506del p.E1836Sfs*47 Frameshift 20/20 - 1
1-27105895-G-T c.5506G>T p.E1836* Nonsense 20/20 - 2
1-27105896-A-AG c.5508dup p.F1837Vfs*2 Frameshift 20/20 - 1
1-27105899-T-A c.5510T>A p.F1837Y Missense 20/20 - 2
1-27105897-G-GT c.5511dup p.D1838* Nonsense 20/20 - 1
1-27105897-GT-G c.5511del p.F1837Lfs*46 Frameshift 20/20 - 1
1-27105901-GAC-TAA c.5512_5514delinsTAA p.D1838* Nonsense 20/20 - 1
1-27105901-G-C c.5512G>C p.D1838H Missense 20/20 - 1
1-27105901-G-T c.5512G>T p.D1838Y Missense 20/20 - 1
1-27105899-TTGACAGTGGCC-T c.5513_5523del p.D1838Afs*12 Frameshift 20/20 - 1
1-27105902-A-G c.5513A>G p.D1838G Missense 20/20 - 1
1-27105903-C-CT c.5514_5515insT p.S1839* Nonsense 20/20 - 1
1-27105904-A-G c.5515A>G p.S1839G Missense 20/20 - 1
1-27105904-A-T c.5515A>T p.S1839C Missense 20/20 - 1
1-27105904-CAG-C c.5515_5516del p.S1839Wfs*14 Frameshift 20/20 - 1
1-27105904-A-AG c.5516dup p.S1839Rfs*15 Frameshift 20/20 - 1
1-27105905-G-A c.5516G>A p.S1839N Missense 20/20 - 1
1-27105907-G-T c.5518G>T p.G1840C Missense 20/20 - 1
1-27105906-TG-T c.5519del p.G1840Afs*43 Frameshift 20/20 - 1
1-27105910-C-T c.5521C>T p.L1841= Synonymous 20/20 - 1
1-27105912-G-A c.5523G>A p.L1841= Synonymous 20/20 - 1
1-27105912-G-C c.5523G>C p.L1841= Synonymous 20/20 - 1
1-27105912-G-T c.5523G>T p.L1841= Synonymous 20/20 - 1
1-27105913-C-T c.5524C>T p.L1842= Synonymous 20/20 - 2
1-27105909-CCTG-C c.5525_5527del p.L1842del InFrameDeletion 20/20 - 1
1-27105912-GCTGCA-G c.5527_5531del p.H1843Afs*9 Frameshift 20/20 - 1
1-27105917-A-C c.5528A>C p.H1843P Missense 20/20 - 1
1-27105918-C-G c.5529C>G p.H1843Q Missense 20/20 - 1
1-27105918-C-T c.5529C>T p.H1843= Synonymous 20/20 - 2
1-27105919-CT-C c.5530del p.W1844Gfs*39 Frameshift 20/20 - 2
1-27105920-G-A c.5531G>A p.W1844* Nonsense 20/20 - 5
1-27105921-G-A c.5532G>A p.W1844* Nonsense 20/20 - 15
1-27105922-C-A c.5533C>A p.R1845= Synonymous 20/20 - 1
1-27105922-C-G c.5533C>G p.R1845G Missense 20/20 - 1
1-27105922-C-T c.5533C>T p.R1845W Missense 20/20 - 2
1-27105924-G-A c.5535G>A p.R1845= Synonymous 20/20 - 1
1-27105924-G-C c.5535G>C p.R1845= Synonymous 20/20 - 1
1-27105924-G-T c.5535G>T p.R1845= Synonymous 20/20 - 1
1-27105923-G-A c.5534G>A p.R1845Q Missense 20/20 - 10
1-27105923-GG-AT c.5534_5535delinsAT p.R1845H Missense 20/20 - 1
1-27105923-G-T c.5534G>T p.R1845L Missense 20/20 - 1
1-27105928-G-A c.5539G>A p.G1847S Missense 20/20 - 1
1-27105928-GGT-TGA c.5539_5541delinsTGA p.G1847* Nonsense 20/20 - 1
1-27105927-T-TG c.5540dup p.G1848Wfs*6 Frameshift 20/20 - 3
1-27105929-G-GT c.5541dup p.G1848Wfs*6 Frameshift 20/20 - 2
1-27105930-T-A c.5541T>A p.G1847= Synonymous 20/20 - 2
1-27105930-T-C c.5541T>C p.G1847= Synonymous 20/20 - 1
1-27105930-T-G c.5541T>G p.G1847= Synonymous 20/20 - 2
1-27105931-G-C c.5542G>C p.G1848R Missense 20/20 - 3
1-27105931-G-T c.5542G>T p.G1848W Missense 20/20 - 5
1-27105932-G-C c.5543G>C p.G1848A Missense 20/20 - 1
1-27105932-G-T c.5543G>T p.G1848V Missense 20/20 - 3
1-27105935-G-C c.5546G>C p.G1849A Missense 20/20 - 1
1-27105936-G-GT c.5547_5548insT p.D1850* Nonsense 20/20 - 7
1-27105930-TG-T c.5548del p.D1850Tfs*33 Frameshift 20/20 - 49
1-27105930-T-TG c.5548dup p.D1850Gfs*4 Frameshift 20/20 - 53
1-27105937-G-A c.5548G>A p.D1850N Missense 20/20 - 1
1-27105937-G-T c.5548G>T p.D1850Y Missense 20/20 - 1
1-27105937-G-GA c.5549dup p.D1850Efs*4 Frameshift 20/20 - 2
1-27105938-A-G c.5549A>G p.D1850G Missense 20/20 - 5
1-27105939-C-A c.5550C>A p.D1850E Missense 20/20 - 1
1-27105939-C-G c.5550C>G p.D1850E Missense 20/20 - 1
1-27105940-A-AT c.5551_5552insT p.T1851Ifs*3 Frameshift 20/20 - 1
1-27105940-A-T c.5551A>T p.T1851S Missense 20/20 - 1
1-27105941-C-G c.5552C>G p.T1851S Missense 20/20 - 1
1-27105941-C-T c.5552C>T p.T1851I Missense 20/20 - 3
1-27105940-AC-A c.5553del p.T1852Lfs*31 Frameshift 20/20 - 1
1-27105943-A-ATTGAG c.5554_5555insTTGAG p.T1852Ifs*33 Frameshift 20/20 - 1
1-27105944-C-A c.5555C>A p.T1852N Missense 20/20 - 1
1-27105944-C-T c.5555C>T p.T1852I Missense 20/20 - 1
1-27105946-G-A c.5557G>A p.E1853K Missense 20/20 - 1
1-27105946-G-T c.5557G>T p.E1853* Nonsense 20/20 - 1
1-27105945-TGA-T c.5558_5559del p.E1853Afs*47 Frameshift 20/20 - 1
1-27105949-C-T c.5560C>T p.H1854Y Missense 20/20 - 2
1-27105951-T-A c.5562T>A p.H1854Q Missense 20/20 - 2
1-27105951-T-G c.5562T>G p.H1854Q Missense 20/20 - 2
1-27105952-A-T c.5563A>T p.I1855F Missense 20/20 - 1
1-27105953-T-C c.5564T>C p.I1855T Missense 20/20 - 1
1-27105954-C-G c.5565C>G p.I1855M Missense 20/20 - 2
1-27105955-C-T c.5566C>T p.Q1856* Nonsense 20/20 - 9
1-27105956-A-G c.5567A>G p.Q1856R Missense 20/20 - 4
1-27105957-G-C c.5568G>C p.Q1856H Missense 20/20 - 1
1-27105957-G-T c.5568G>T p.Q1856H Missense 20/20 - 2
1-27105959-C-T c.5570C>T p.T1857I Missense 20/20 - 2
1-27105958-A-AC c.5572dup p.H1858Pfs*43 Frameshift 20/20 - 1
1-27105961-C-G c.5572C>G p.H1858D Missense 20/20 - 2
1-27105961-C-T c.5572C>T p.H1858Y Missense 20/20 - 1
1-27105963-ACTTC-A c.5574_5577del p.H1858Qfs*24 Frameshift 20/20 - 1
1-27105964-T-C c.5575T>C p.F1859L Missense 20/20 - 1
1-27105965-TTCGA-T c.5576_5579del p.F1859* Frameshift 20/20 - 1
1-27105966-C-G c.5577C>G p.F1859L Missense 20/20 - 1
1-27105966-C-T c.5577C>T p.F1859= Synonymous 20/20 - 4
1-27105966-TCG-T c.5577_5578del p.F1859Lfs*41 Frameshift 20/20 - 1
1-27105966-TC-T c.5577del p.F1859Lfs*24 Frameshift 20/20 - 1
1-27105967-G-A c.5578G>A p.E1860K Missense 20/20 - 4
1-27105967-G-T c.5578G>T p.E1860* Nonsense 20/20 - 7
1-27105970-A-T c.5581A>T p.S1861C Missense 20/20 - 1
1-27105971-G-T c.5582G>T p.S1861I Missense 20/20 - 1
1-27105973-A-T c.5584A>T p.K1862* Nonsense 20/20 - 1
1-27105974-A-G c.5585A>G p.K1862R Missense 20/20 - 3
1-27105975-G-A c.5586G>A p.K1862= Synonymous 20/20 - 1
1-27105977-C-T c.5588C>T p.T1863I Missense 20/20 - 2
1-27105979-AG-A c.5590del p.E1864Sfs*19 Frameshift 20/20 - 1
1-27105979-G-A c.5590G>A p.E1864K Missense 20/20 - 1
1-27105977-CAG-C c.5591_5592del p.E1864Afs*36 Frameshift 20/20 - 1
1-27105980-A-C c.5591A>C p.E1864A Missense 20/20 - 1
1-27105983-T-TG c.5595dup p.L1866Afs*35 Frameshift 20/20 - 1
1-27105984-G-A c.5595G>A p.L1865= Synonymous 20/20 - 1
1-27105987-G-A c.5598G>A p.L1866= Synonymous 20/20 - 2
1-27105987-TGC-T c.5598_5599del p.P1867Ffs*33 Frameshift 20/20 - 1
1-27105988-C-T c.5599C>T p.P1867S Missense 20/20 - 1
1-27105987-G-GC c.5600dup p.S1868Ffs*33 Frameshift 20/20 - 1
1-27105992-C-G c.5603C>G p.S1868C Missense 20/20 - 1
1-27105992-C-T c.5603C>T p.S1868F Missense 20/20 - 2
1-27105994-C-G c.5605C>G p.R1869G Missense 20/20 - 1
1-27105994-CG-AT c.5605_5606delinsAT p.R1869M Missense 20/20 - 1
1-27105994-C-T c.5605C>T p.R1869W Missense 20/20 - 8
1-27105995-G-A c.5606G>A p.R1869Q Missense 20/20 - 8
1-27105997-C-T c.5608C>T p.P1870S Missense 20/20 - 1
1-27105998-C-T c.5609C>T p.P1870L Missense 20/20 - 1
1-27106000-C-A c.5611C>A p.H1871N Missense 20/20 - 1
1-27106000-C-T c.5611C>T p.H1871Y Missense 20/20 - 1
1-27106000-TCAC-T c.5611_5613del p.H1871del InFrameDeletion 20/20 - 1
1-27106000-C-CA c.5612dup p.H1871Qfs*30 Frameshift 20/20 - 4
1-27106002-C-A c.5613C>A p.H1871Q Missense 20/20 - 1
1-27106002-C-G c.5613C>G p.H1871Q Missense 20/20 - 3
1-27106002-C-T c.5613C>T p.H1871= Synonymous 20/20 - 4
1-27106003-G-A c.5614G>A p.A1872T Missense 20/20 - 5
1-27106003-G-T c.5614G>T p.A1872S Missense 20/20 - 2
1-27106004-C-A c.5615C>A p.A1872E Missense 20/20 - 1
1-27106004-C-T c.5615C>T p.A1872V Missense 20/20 - 10
1-27106006-C-G c.5617C>G p.P1873A Missense 20/20 - 2
1-27106007-CC-AA c.5618_5619delinsAA p.P1873Q Missense 20/20 - 1
1-27106007-C-G c.5618C>G p.P1873R Missense 20/20 - 3
1-27106007-C-T c.5618C>T p.P1873L Missense 20/20 - 3
1-27106005-AC-A c.5619del p.C1874Afs*9 Frameshift 20/20 - 1
1-27106008-C-A c.5619C>A p.P1873= Synonymous 20/20 - 6
1-27106008-C-G c.5619C>G p.P1873= Synonymous 20/20 - 4
1-27106008-C-T c.5619C>T p.P1873= Synonymous 20/20 - 5
1-27106010-G-A c.5621G>A p.C1874Y Missense 20/20 - 1
1-27106012-C-A c.5623C>A p.P1875T Missense 20/20 - 1
1-27106012-C-T c.5623C>T p.P1875S Missense 20/20 - 2
1-27106010-G-GC c.5624dup p.P1876Tfs*25 Frameshift 20/20 - 1
1-27106011-C-CCCCCCTG c.5624_5625insCCCTGCC p.P1878Tfs*25 Frameshift 20/20 - 1
1-27106013-C-T c.5624C>T p.P1875L Missense 20/20 - 1
1-27106009-TGCCCACCA-T c.5625_5632del p.P1876Sfs*22 Frameshift 20/20 - 1
1-27106015-C-A c.5626C>A p.P1876T Missense 20/20 - 1
1-27106016-C-T c.5627C>T p.P1876L Missense 20/20 - 1
1-27106018-G-C c.5629G>C p.A1877P Missense 20/20 - 2
1-27106018-G-T c.5629G>T p.A1877S Missense 20/20 - 1
1-27106018-GC-G c.5633del p.P1878Lfs*5 Frameshift 20/20 - 1
1-27106022-C-A c.5633C>A p.P1878H Missense 20/20 - 1
1-27106022-C-T c.5633C>T p.P1878L Missense 20/20 - 3
1-27106022-C-CT c.5634dup p.R1879Sfs*22 Frameshift 20/20 - 3
1-27106024-C-A c.5635C>A p.R1879= Synonymous 20/20 - 1
1-27106024-C-T c.5635C>T p.R1879W Missense 20/20 - 6
1-27106025-G-A c.5636G>A p.R1879Q Missense 20/20 - 4
1-27106025-G-T c.5636G>T p.R1879L Missense 20/20 - 1
1-27106024-CG-C c.5637del p.K1880Sfs*3 Frameshift 20/20 - 1
1-27106026-G-T c.5637G>T p.R1879= Synonymous 20/20 - 1
1-27106029-G-A c.5640G>A p.K1880= Synonymous 20/20 - 2
1-27106031-A-ACC c.5642_5643insCC p.V1882Lfs*2 Frameshift 20/20 - 1
1-27106031-A-G c.5642A>G p.H1881R Missense 20/20 - 1
1-27106032-T-A c.5643T>A p.H1881Q Missense 20/20 - 1
1-27106033-G-A c.5644G>A p.V1882M Missense 20/20 - 3
1-27106033-G-C c.5644G>C p.V1882L Missense 20/20 - 1
1-27106033-G-GCCCCCCCCA c.5644_5645insCCCCCCCCA p.V1882delinsAPPM MultiAAMissense 20/20 - 1
1-27106034-T-G c.5645T>G p.V1882G Missense 20/20 - 1
1-27106035-TGA-T c.5646_5647del p.T1883Nfs*17 Frameshift 20/20 - 1
1-27106036-AC-GG c.5647_5648delinsGG p.T1883G Missense 20/20 - 1
1-27106036-A-T c.5647A>T p.T1883S Missense 20/20 - 1
1-27106038-CAACAGCA-C c.5649_5655del p.T1884Rfs*37 Frameshift 20/20 - 1
1-27106037-C-CA c.5650dup p.T1884Nfs*17 Frameshift 20/20 - 1
1-27106039-A-G c.5650A>G p.T1884A Missense 20/20 - 2
1-27106039-A-T c.5650A>T p.T1884S Missense 20/20 - 4
1-27106038-AACAGCAGAGGGTAC-A c.5652_5665del p.A1885Rfs*11 Frameshift 20/20 - 1
1-27106040-CAGCAGAGGGT-C c.5653_5662del p.A1885Hfs*35 Frameshift 20/20 - 1
1-27106042-G-GAGCGAGACTCCAT c.5653_5654insAGCGAGACTCCAT p.A1885Efs*20 Frameshift 20/20 - 1
1-27106043-C-T c.5654C>T p.A1885V Missense 20/20 - 3
1-27106043-C-CA c.5655dup p.E1886Rfs*15 Frameshift 20/20 - 1
1-27106045-AG-A c.5656del p.E1886Rfs*37 Frameshift 20/20 - 1
1-27106045-G-T c.5656G>T p.E1886* Nonsense 20/20 - 1
1-27106047-G-A c.5658G>A p.E1886= Synonymous 20/20 - 1
1-27106047-G-C c.5658G>C p.E1886D Missense 20/20 - 2
1-27106048-G-A c.5659G>A p.G1887S Missense 20/20 - 2
1-27106046-AG-A c.5660del p.G1887Vfs*36 Frameshift 20/20 - 1
1-27106049-G-A c.5660G>A p.G1887D Missense 20/20 - 2
1-27106049-G-T c.5660G>T p.G1887V Missense 20/20 - 1
1-27106053-A-C c.5664A>C p.T1888= Synonymous 20/20 - 1
1-27106053-A-G c.5664A>G p.T1888= Synonymous 20/20 - 1
1-27106053-A-T c.5664A>T p.T1888= Synonymous 20/20 - 1
1-27106054-C-T c.5665C>T p.P1889S Missense 20/20 - 1
1-27106055-C-A c.5666C>A p.P1889Q Missense 20/20 - 1
1-27106055-CCA-C c.5666_5667del p.P1889Rfs*11 Frameshift 20/20 - 1
1-27106055-C-T c.5666C>T p.P1889L Missense 20/20 - 4
1-27106058-G-A c.5669G>A p.G1890E Missense 20/20 - 2
1-27106058-G-T c.5669G>T p.G1890V Missense 20/20 - 1
1-27106060-A-G c.5671A>G p.T1891A Missense 20/20 - 1
1-27106063-A-G c.5674A>G p.T1892A Missense 20/20 - 3
1-27106063-A-T c.5674A>T p.T1892S Missense 20/20 - 1
1-27106064-C-T c.5675C>T p.T1892I Missense 20/20 - 4
1-27106065-A-AG c.5677dup p.D1893Gfs*8 Frameshift 20/20 - 1
1-27106066-G-A c.5677G>A p.D1893N Missense 20/20 - 1
1-27106068-C-A c.5679C>A p.D1893E Missense 20/20 - 1
1-27106068-CC-GT c.5679_5680delinsGT p.D1893_Q1894delinsE* MultiAAMissense 20/20 - 1
1-27106068-C-G c.5679C>G p.D1893E Missense 20/20 - 5
1-27106067-A-AC c.5680dup p.Q1894Pfs*7 Frameshift 20/20 - 1
1-27106069-C-T c.5680C>T p.Q1894* Nonsense 20/20 - 8
1-27106071-G-T c.5682G>T p.Q1894H Missense 20/20 - 1
1-27106072-G-T c.5683G>T p.E1895* Nonsense 20/20 - 7
1-27106075-G-T c.5686G>T p.G1896W Missense 20/20 - 1
1-27106076-G-A c.5687G>A p.G1896E Missense 20/20 - 1
1-27106076-G-C c.5687G>C p.G1896A Missense 20/20 - 2
1-27106073-A-AG c.5688dup p.P1897Afs*4 Frameshift 20/20 - 1
1-27106073-AG-A c.5688del p.P1898Hfs*25 Frameshift 20/20 - 1
1-27106078-C-G c.5689C>G p.P1897A Missense 20/20 - 3
1-27106078-C-T c.5689C>T p.P1897S Missense 20/20 - 1
1-27106079-C-T c.5690C>T p.P1897L Missense 20/20 - 2
1-27106080-C-A c.5691C>A p.P1897= Synonymous 20/20 - 1
1-27106080-C-G c.5691C>G p.P1897= Synonymous 20/20 - 1
1-27106080-C-T c.5691C>T p.P1897= Synonymous 20/20 - 1
1-27106081-C-T c.5692C>T p.P1898S Missense 20/20 - 2
1-27106077-GC-G c.5693del p.P1898Hfs*25 Frameshift 20/20 - 5
1-27106082-C-T c.5693C>T p.P1898L Missense 20/20 - 2
1-27106083-A-C c.5694A>C p.P1898= Synonymous 20/20 - 1
1-27106083-A-G c.5694A>G p.P1898= Synonymous 20/20 - 1
1-27106083-A-T c.5694A>T p.P1898= Synonymous 20/20 - 1
1-27106084-C-A c.5695C>A p.P1899T Missense 20/20 - 2
1-27106083-A-AC c.5696dup p.D1900* Nonsense 20/20 - 1
1-27106085-C-A c.5696C>A p.P1899H Missense 20/20 - 1
1-27106087-G-A c.5698G>A p.D1900N Missense 20/20 - 1
1-27106087-G-C c.5698G>C p.D1900H Missense 20/20 - 4
1-27106087-G-T c.5698G>T p.D1900Y Missense 20/20 - 1
1-27106090-G-A c.5701G>A p.G1901R Missense 20/20 - 1
1-27106090-G-C c.5701G>C p.G1901R Missense 20/20 - 1
1-27106090-G-T c.5701G>T p.G1901* Nonsense 20/20 - 1
1-27106091-G-C c.5702G>C p.G1901A Missense 20/20 - 1
1-27106092-GA-G c.5703del p.P1902Lfs*21 Frameshift 20/20 - 1
1-27106093-C-T c.5704C>T p.P1902S Missense 20/20 - 2
1-27106094-C-T c.5705C>T p.P1902L Missense 20/20 - 3
1-27106098-A-AT c.5709_5710insT p.E1904* Nonsense 20/20 - 1
1-27106098-CA-C c.5709del p.E1904Kfs*19 Frameshift 20/20 - 1
1-27106099-G-C c.5710G>C p.E1904Q Missense 20/20 - 1
1-27106099-G-T c.5710G>T p.E1904* Nonsense 20/20 - 4
1-27106100-A-T c.5711A>T p.E1904V Missense 20/20 - 2
1-27106103-A-C c.5714A>C p.K1905T Missense 20/20 - 2
1-27106099-G-GA c.5715dup p.R1906Tfs*8 Frameshift 20/20 - 2
1-27106105-C-T c.5716C>T p.R1906W Missense 20/20 - 4
1-27106106-G-A c.5717G>A p.R1906Q Missense 20/20 - 15
1-27106106-G-C c.5717G>C p.R1906P Missense 20/20 - 2
1-27106106-G-T c.5717G>T p.R1906L Missense 20/20 - 1
1-27106108-A-G c.5719A>G p.I1907V Missense 20/20 - 3
1-27106108-A-T c.5719A>T p.I1907F Missense 20/20 - 5
1-27106109-T-C c.5720T>C p.I1907T Missense 20/20 - 1
1-27106110-C-G c.5721C>G p.I1907M Missense 20/20 - 1
1-27106110-TC-T c.5721del p.T1908Qfs*15 Frameshift 20/20 - 1
1-27106111-A-C c.5722A>C p.T1908P Missense 20/20 - 1
1-27106111-A-G c.5722A>G p.T1908A Missense 20/20 - 1
1-27106112-C-G c.5723C>G p.T1908R Missense 20/20 - 1
1-27106113-A-C c.5724A>C p.T1908= Synonymous 20/20 - 1
1-27106117-A-T c.5728A>T p.T1910S Missense 20/20 - 1
1-27106118-C-A c.5729C>A p.T1910N Missense 20/20 - 1
1-27106118-C-T c.5729C>T p.T1910I Missense 20/20 - 1
1-27106116-CACTATGGATG-C c.5730_5739del p.M1911Cfs*9 Frameshift 20/20 - 1
1-27106119-T-A c.5730T>A p.T1910= Synonymous 20/20 - 2
1-27106119-T-C c.5730T>C p.T1910= Synonymous 20/20 - 1
1-27106120-A-C c.5731A>C p.M1911L Missense 20/20 - 1
1-27106120-A-G c.5731A>G p.M1911V Missense 20/20 - 2
1-27106120-A-T c.5731A>T p.M1911L Missense 20/20 - 1
1-27106121-ATGGATGACATGTTGTCTACTC-A c.5732_5752del p.M1911_T1917del InFrameDeletion 20/20 - 1
1-27106121-T-C c.5732T>C p.M1911T Missense 20/20 - 1
1-27106122-G-A c.5733G>A p.M1911I Missense 20/20 - 1
1-27106122-G-C c.5733G>C p.M1911I Missense 20/20 - 1
1-27106122-G-T c.5733G>T p.M1911I Missense 20/20 - 1
1-27106123-G-A c.5734G>A p.D1912N Missense 20/20 - 4
1-27106124-A-C c.5735A>C p.D1912A Missense 20/20 - 2
1-27106126-G-A c.5737G>A p.D1913N Missense 20/20 - 2
1-27106127-A-G c.5738A>G p.D1913G Missense 20/20 - 1
1-27106128-C-CA c.5740dup p.M1914Nfs*7 Frameshift 20/20 - 1
1-27106129-CAT-C c.5740_5741del p.M1914Vfs*6 Frameshift 20/20 - 1
1-27106132-T-G c.5743T>G p.L1915V Missense 20/20 - 1
1-27106134-G-A c.5745G>A p.L1915= Synonymous 20/20 - 1
1-27106134-G-T c.5745G>T p.L1915F Missense 20/20 - 1
1-27106135-TC-CT c.5746_5747delinsCT p.S1916L Missense 20/20 - 1
1-27106136-C-G c.5747C>G p.S1916C Missense 20/20 - 11
1-27106136-C-T c.5747C>T p.S1916F Missense 20/20 - 1
1-27106136-C-CT c.5748dup p.T1917Yfs*4 Frameshift 20/20 - 1
1-27106138-A-G c.5749A>G p.T1917A Missense 20/20 - 3
1-27106139-C-A c.5750C>A p.T1917N Missense 20/20 - 2
1-27106139-C-T c.5750C>T p.T1917I Missense 20/20 - 1
1-27106139-CT-TG c.5750_5751delinsTG p.T1917M Missense 20/20 - 1
1-27106141-C-A c.5752C>A p.R1918= Synonymous 20/20 - 1
1-27106141-C-T c.5752C>T p.R1918W Missense 20/20 - 4
1-27106143-G-A c.5754G>A p.R1918= Synonymous 20/20 - 1
1-27106143-G-C c.5754G>C p.R1918= Synonymous 20/20 - 1
1-27106143-G-T c.5754G>T p.R1918= Synonymous 20/20 - 1
1-27106142-G-A c.5753G>A p.R1918Q Missense 20/20 - 2
1-27106142-G-C c.5753G>C p.R1918P Missense 20/20 - 2
1-27106142-G-T c.5753G>T p.R1918L Missense 20/20 - 1
1-27106144-T-A c.5755T>A p.S1919T Missense 20/20 - 1
1-27106148-AGC-A c.5759_5760del p.S1920Nfs*8 Frameshift 20/20 - 1
1-27106148-G-A c.5759G>A p.S1920N Missense 20/20 - 1
1-27106150-A-G c.5761A>G p.T1921A Missense 20/20 - 1
1-27106152-C-A c.5763C>A p.T1921= Synonymous 20/20 - 1
1-27106153-T-C c.5764T>C p.L1922= Synonymous 20/20 - 1
1-27106155-G-A c.5766G>A p.L1922= Synonymous 20/20 - 1
1-27106154-T-G c.5765T>G p.L1922W Missense 20/20 - 1
1-27106155-G-C c.5766G>C p.L1922F Missense 20/20 - 1
1-27106154-TGACCGAG-T c.5768_5774del p.T1923Mfs*31 Frameshift 20/20 - 1
1-27106158-C-A c.5769C>A p.T1923= Synonymous 20/20 - 1
1-27106158-C-G c.5769C>G p.T1923= Synonymous 20/20 - 1
1-27106158-C-T c.5769C>T p.T1923= Synonymous 20/20 - 1
1-27106159-G-A c.5770G>A p.E1924K Missense 20/20 - 9
1-27106159-G-T c.5770G>T p.E1924* Nonsense 20/20 - 3
1-27106161-G-T c.5772G>T p.E1924D Missense 20/20 - 1
1-27106162-G-A c.5773G>A p.D1925N Missense 20/20 - 1
1-27106164-T-G c.5775T>G p.D1925E Missense 20/20 - 1
1-27106165-G-A c.5776G>A p.G1926R Missense 20/20 - 2
1-27106165-G-C c.5776G>C p.G1926R Missense 20/20 - 2
1-27106166-G-C c.5777G>C p.G1926A Missense 20/20 - 7
1-27106168-G-A c.5779G>A p.A1927T Missense 20/20 - 3
1-27106168-G-C c.5779G>C p.A1927P Missense 20/20 - 8
1-27106169-C-A c.5780C>A p.A1927D Missense 20/20 - 1
1-27106169-C-CCT c.5780_5781insCT p.K1928Lfs*29 Frameshift 20/20 - 1
1-27106169-C-T c.5780C>T p.A1927V Missense 20/20 - 1
1-27106169-C-CT c.5781dup p.K1928* Nonsense 20/20 - 1
1-27106171-A-T c.5782A>T p.K1928* Nonsense 20/20 - 10
1-27106172-A-T c.5783A>T p.K1928M Missense 20/20 - 1
1-27106173-G-C c.5784G>C p.K1928N Missense 20/20 - 3
1-27106173-G-GT c.5784_5785insT p.S1929* Nonsense 20/20 - 1
1-27106173-G-T c.5784G>T p.K1928N Missense 20/20 - 3
1-27106175-G-C c.5786G>C p.S1929T Missense 20/20 - 1
1-27106174-A-C c.5785A>C p.S1929R Missense 20/20 - 3
1-27106176-T-A c.5787T>A p.S1929R Missense 20/20 - 3
1-27106176-T-G c.5787T>G p.S1929R Missense 20/20 - 5
1-27106175-GT-G c.5788del p.S1930Qfs*26 Frameshift 20/20 - 2
1-27106177-T-G c.5788T>G p.S1930A Missense 20/20 - 3
1-27106178-C-A c.5789C>A p.S1930* Nonsense 20/20 - 6
1-27106178-C-G c.5789C>G p.S1930* Nonsense 20/20 - 3
1-27106178-TC-T c.5789del p.S1930* Frameshift 20/20 - 1
1-27106180-G-A c.5791G>A p.E1931K Missense 20/20 - 1
1-27106180-G-C c.5791G>C p.E1931Q Missense 20/20 - 3
1-27106180-G-T c.5791G>T p.E1931* Nonsense 20/20 - 5
1-27106183-G-A c.5794G>A p.A1932T Missense 20/20 - 2
1-27106183-G-T c.5794G>T p.A1932S Missense 20/20 - 1
1-27106185-C-A c.5796C>A p.A1932= Synonymous 20/20 - 1
1-27106185-C-G c.5796C>G p.A1932= Synonymous 20/20 - 1
1-27106185-C-T c.5796C>T p.A1932= Synonymous 20/20 - 4
1-27106186-A-G c.5797A>G p.I1933V Missense 20/20 - 1
1-27106186-A-T c.5797A>T p.I1933F Missense 20/20 - 1
1-27106187-T-C c.5798T>C p.I1933T Missense 20/20 - 5
1-27106189-A-G c.5800A>G p.K1934E Missense 20/20 - 1
1-27106189-A-T c.5800A>T p.K1934* Nonsense 20/20 - 1
1-27106192-G-A c.5803G>A p.E1935K Missense 20/20 - 1
1-27106192-G-T c.5803G>T p.E1935* Nonsense 20/20 - 7
1-27106193-A-AT c.5804_5805insT p.E1935Dfs*10 Frameshift 20/20 - 1
1-27106195-GA-G c.5806del p.S1936Afs*20 Frameshift 20/20 - 2
1-27106199-G-A c.5810G>A p.S1937N Missense 20/20 - 2
1-27106201-A-G c.5812A>G p.K1938E Missense 20/20 - 5
1-27106202-A-G c.5813A>G p.K1938R Missense 20/20 - 1
1-27106203-G-C c.5814G>C p.K1938N Missense 20/20 - 1
1-27106203-G-T c.5814G>T p.K1938N Missense 20/20 - 1
1-27106203-GT-G c.5817del p.P1940Hfs*16 Frameshift 20/20 - 1
1-27106207-C-T c.5818C>T p.P1940S Missense 20/20 - 2
1-27106208-C-T c.5819C>T p.P1940L Missense 20/20 - 7
1-27106210-T-C c.5821T>C p.F1941L Missense 20/20 - 1
1-27106212-T-A c.5823T>A p.F1941L Missense 20/20 - 1
1-27106212-T-G c.5823T>G p.F1941L Missense 20/20 - 1
1-27106209-AT-A c.5823del p.F1941Lfs*15 Frameshift 20/20 - 1
1-27106214-G-A c.5825G>A p.G1942D Missense 20/20 - 4
1-27106214-G-C c.5825G>C p.G1942A Missense 20/20 - 1
1-27106215-C-A c.5826C>A p.G1942= Synonymous 20/20 - 1
1-27106215-C-G c.5826C>G p.G1942= Synonymous 20/20 - 1
1-27106215-C-T c.5826C>T p.G1942= Synonymous 20/20 - 1
1-27106216-A-G c.5827A>G p.I1943V Missense 20/20 - 2
1-27106216-CA-C c.5827del p.I1943Lfs*13 Frameshift 20/20 - 1
1-27106219-A-G c.5830A>G p.S1944G Missense 20/20 - 1
1-27106220-G-A c.5831G>A p.S1944N Missense 20/20 - 1
1-27106221-C-T c.5832C>T p.S1944= Synonymous 20/20 - 1
1-27106222-C-A c.5833C>A p.P1945T Missense 20/20 - 1
1-27106222-C-G c.5833C>G p.P1945A Missense 20/20 - 1
1-27106223-C-T c.5834C>T p.P1945L Missense 20/20 - 5
1-27106225-G-T c.5836G>T p.A1946S Missense 20/20 - 2
1-27106228-C-G c.5839C>G p.Q1947E Missense 20/20 - 2
1-27106228-C-T c.5839C>T p.Q1947* Nonsense 20/20 - 7
1-27106230-G-C c.5841G>C p.Q1947H Missense 20/20 - 6
1-27106230-G-GT c.5841_5842insT p.S1948* Nonsense 20/20 - 3
1-27106230-G-T c.5841G>T p.Q1947H Missense 20/20 - 10
1-27106228-CAG-C c.5842_5843del p.S1948Pfs*14 Frameshift 20/20 - 1
1-27106232-G-A c.5843G>A p.S1948N Missense 20/20 - 5
1-27106235-A-G c.5846A>G p.H1949R Missense 20/20 - 1
1-27106235-CA-C c.5846del p.H1949Pfs*7 Frameshift 20/20 - 1
1-27106236-C-CA c.5847_5848insA p.R1950Tfs*13 Frameshift 20/20 - 1
1-27106237-C-G c.5848C>G p.R1950G Missense 20/20 - 3
1-27106237-C-T c.5848C>T p.R1950W Missense 20/20 - 4
1-27106238-G-A c.5849G>A p.R1950Q Missense 20/20 - 11
1-27106238-GGAACATCAAGATCCTA-G c.5852_5867del p.N1951Rfs*59 Frameshift 20/20 - 1
1-27106242-C-CT c.5853_5854insT p.I1952Yfs*11 Frameshift 20/20 - 1
1-27106243-A-G c.5854A>G p.I1952V Missense 20/20 - 2
1-27106243-A-T c.5854A>T p.I1952F Missense 20/20 - 2
1-27106244-T-C c.5855T>C p.I1952T Missense 20/20 - 1
1-27106244-T-TC c.5856dup p.K1953Qfs*10 Frameshift 20/20 - 1
1-27106245-C-CT c.5856_5857insT p.K1953* Nonsense 20/20 - 1
1-27106245-TC-T c.5856del p.K1953Rfs*3 Frameshift 20/20 - 1
1-27106246-A-T c.5857A>T p.K1953* Nonsense 20/20 - 1
1-27106248-G-A c.5859G>A p.K1953= Synonymous 20/20 - 3
1-27106248-G-C c.5859G>C p.K1953N Missense 20/20 - 2
1-27106248-G-T c.5859G>T p.K1953N Missense 20/20 - 2
1-27106249-A-G c.5860A>G p.I1954V Missense 20/20 - 3
1-27106249-A-T c.5860A>T p.I1954F Missense 20/20 - 1
1-27106251-C-A c.5862C>A p.I1954= Synonymous 20/20 - 1
1-27106251-C-T c.5862C>T p.I1954= Synonymous 20/20 - 1
1-27106252-C-T c.5863C>T p.L1955= Synonymous 20/20 - 3
1-27106254-A-C c.5865A>C p.L1955= Synonymous 20/20 - 1
1-27106254-A-G c.5865A>G p.L1955= Synonymous 20/20 - 1
1-27106254-A-T c.5865A>T p.L1955= Synonymous 20/20 - 1
1-27106255-G-A c.5866G>A p.E1956K Missense 20/20 - 3
1-27106255-G-C c.5866G>C p.E1956Q Missense 20/20 - 2
1-27106253-TAG-T c.5867_5868del p.E1956Gfs*6 Frameshift 20/20 - 1
1-27106256-A-C c.5867A>C p.E1956A Missense 20/20 - 1
1-27106258-G-A c.5869G>A p.D1957N Missense 20/20 - 1
1-27106260-C-CT c.5871_5872insT p.E1958* Nonsense 20/20 - 1
1-27106260-C-G c.5871C>G p.D1957E Missense 20/20 - 1
1-27106260-C-T c.5871C>T p.D1957= Synonymous 20/20 - 4
1-27106261-G-A c.5872G>A p.E1958K Missense 20/20 - 4
1-27106261-G-T c.5872G>T p.E1958* Nonsense 20/20 - 5
1-27106263-A-T c.5874A>T p.E1958D Missense 20/20 - 1
1-27106264-C-T c.5875C>T p.P1959S Missense 20/20 - 1
1-27106263-AC-A c.5878del p.H1960Tfs*55 Frameshift 20/20 - 1
1-27106267-C-T c.5878C>T p.H1960Y Missense 20/20 - 2
1-27106269-C-G c.5880C>G p.H1960Q Missense 20/20 - 1
1-27106269-C-T c.5880C>T p.H1960= Synonymous 20/20 - 2
1-27106269-CAGTAAGG-C c.5882_5888del p.S1961Mfs*52 Frameshift 20/20 - 1
1-27106271-G-A c.5882G>A p.S1961N Missense 20/20 - 8
1-27106270-A-C c.5881A>C p.S1961R Missense 20/20 - 1
1-27106272-T-A c.5883T>A p.S1961R Missense 20/20 - 1
1-27106272-T-G c.5883T>G p.S1961R Missense 20/20 - 1
1-27106273-A-T c.5884A>T p.K1962* Nonsense 20/20 - 2
1-27106276-G-A c.5887G>A p.D1963N Missense 20/20 - 2
1-27106277-A-G c.5888A>G p.D1963G Missense 20/20 - 1
1-27106278-T-A c.5889T>A p.D1963E Missense 20/20 - 1
1-27106278-T-G c.5889T>G p.D1963E Missense 20/20 - 2
1-27106279-G-A c.5890G>A p.E1964K Missense 20/20 - 3
1-27106279-G-T c.5890G>T p.E1964* Nonsense 20/20 - 3
1-27106281-G-C c.5892G>C p.E1964D Missense 20/20 - 2
1-27106281-G-T c.5892G>T p.E1964D Missense 20/20 - 1
1-27106282-A-AT c.5893_5894insT p.T1965Ifs*34 Frameshift 20/20 - 1
1-27106282-A-C c.5893A>C p.T1965P Missense 20/20 - 1
1-27106285-C-A c.5896C>A p.P1966T Missense 20/20 - 1
1-27106285-C-T c.5896C>T p.P1966S Missense 20/20 - 2
1-27106286-C-T c.5897C>T p.P1966L Missense 20/20 - 1
1-27106288-C-T c.5899C>T p.L1967= Synonymous 20/20 - 2
1-27106289-T-TG c.5901dup p.C1968Vfs*31 Frameshift 20/20 - 1
1-27106292-G-A c.5903G>A p.C1968Y Missense 20/20 - 1
1-27106293-T-A c.5904T>A p.C1968* Nonsense 20/20 - 2
1-27106294-A-G c.5905A>G p.T1969A Missense 20/20 - 1
1-27106295-C-A c.5906C>A p.T1969N Missense 20/20 - 1
1-27106295-C-T c.5906C>T p.T1969I Missense 20/20 - 1
1-27106296-C-T c.5907C>T p.T1969= Synonymous 20/20 - 2
1-27106297-C-A c.5908C>A p.L1970I Missense 20/20 - 1
1-27106297-CCTTCT-C c.5908_5912del p.L1970Gfs*27 Frameshift 20/20 - 2
1-27106300-C-T c.5911C>T p.L1971= Synonymous 20/20 - 1
1-27106301-T-A c.5912T>A p.L1971Q Missense 20/20 - 1
1-27106301-T-C c.5912T>C p.L1971P Missense 20/20 - 3
1-27106301-T-G c.5912T>G p.L1971R Missense 20/20 - 2
1-27106303-G-A c.5914G>A p.D1972N Missense 20/20 - 1
1-27106303-G-C c.5914G>C p.D1972H Missense 20/20 - 1
1-27106305-ACT-A c.5916_5917del p.D1972Efs*26 Frameshift 20/20 - 1
1-27106305-C-G c.5916C>G p.D1972E Missense 20/20 - 1
1-27106305-C-T c.5916C>T p.D1972= Synonymous 20/20 - 1
1-27106307-G-A c.5918G>A p.W1973* Nonsense 20/20 - 7
1-27106308-G-A c.5919G>A p.W1973* Nonsense 20/20 - 11
1-27106304-ACTGGCAGGATTCTCTTGCCAAGCGCTGCGT-A c.5919_5948del p.W1973_V1982del InFrameDeletion 20/20 - 1
1-27106309-C-T c.5920C>T p.Q1974* Nonsense 20/20 - 3
1-27106310-A-T c.5921A>T p.Q1974L Missense 20/20 - 1
1-27106312-G-A c.5923G>A p.D1975N Missense 20/20 - 1
1-27106316-C-T c.5927C>T p.S1976F Missense 20/20 - 1
1-27106317-T-C c.5928T>C p.S1976= Synonymous 20/20 - 1
1-27106318-C-T c.5929C>T p.L1977F Missense 20/20 - 2
1-27106319-CTT-C c.5930_5931del p.L1977Rfs*21 Frameshift 20/20 - 2
1-27106319-T-C c.5930T>C p.L1977P Missense 20/20 - 2
1-27106321-G-A c.5932G>A p.A1978T Missense 20/20 - 1
1-27106322-C-G c.5933C>G p.A1978G Missense 20/20 - 1
1-27106322-C-T c.5933C>T p.A1978V Missense 20/20 - 2
1-27106323-C-A c.5934C>A p.A1978= Synonymous 20/20 - 1
1-27106323-C-G c.5934C>G p.A1978= Synonymous 20/20 - 1
1-27106323-C-T c.5934C>T p.A1978= Synonymous 20/20 - 2
1-27106324-A-T c.5935A>T p.K1979* Nonsense 20/20 - 3
1-27106325-A-G c.5936A>G p.K1979R Missense 20/20 - 2
1-27106326-G-GC c.5938dup p.R1980Pfs*19 Frameshift 20/20 - 1
1-27106327-C-T c.5938C>T p.R1980C Missense 20/20 - 5
1-27106328-G-A c.5939G>A p.R1980H Missense 20/20 - 4
1-27106329-C-A c.5940C>A p.R1980= Synonymous 20/20 - 1
1-27106329-C-G c.5940C>G p.R1980= Synonymous 20/20 - 1
1-27106329-C-T c.5940C>T p.R1980= Synonymous 20/20 - 1
1-27106330-T-A c.5941T>A p.C1981S Missense 20/20 - 1
1-27106330-T-C c.5941T>C p.C1981R Missense 20/20 - 1
1-27106331-G-C c.5942G>C p.C1981S Missense 20/20 - 1
1-27106331-G-A c.5942G>A p.C1981Y Missense 20/20 - 6
1-27106331-G-T c.5942G>T p.C1981F Missense 20/20 - 1
1-27106332-C-A c.5943C>A p.C1981* Nonsense 20/20 - 1
1-27106332-C-T c.5943C>T p.C1981= Synonymous 20/20 - 1
1-27106333-G-A c.5944G>A p.V1982I Missense 20/20 - 25
1-27106335-C-A c.5946C>A p.V1982= Synonymous 20/20 - 1
1-27106335-C-G c.5946C>G p.V1982= Synonymous 20/20 - 1
1-27106335-C-T c.5946C>T p.V1982= Synonymous 20/20 - 1
1-27106335-C-CT c.5947dup p.C1983Lfs*16 Frameshift 20/20 - 1
1-27106337-G-C c.5948G>C p.C1983S Missense 20/20 - 1
1-27106337-G-T c.5948G>T p.C1983F Missense 20/20 - 1
1-27106339-G-A c.5950G>A p.V1984M Missense 20/20 - 1
1-27106339-G-C c.5950G>C p.V1984L Missense 20/20 - 1
1-27106339-G-T c.5950G>T p.V1984L Missense 20/20 - 1
1-27106335-CTG-C c.5952_5953del p.S1985Qfs*13 Frameshift 20/20 - 2
1-27106341-G-A c.5952G>A p.V1984= Synonymous 20/20 - 1
1-27106341-G-C c.5952G>C p.V1984= Synonymous 20/20 - 1
1-27106342-T-C c.5953T>C p.S1985P Missense 20/20 - 6
1-27106342-T-G c.5953T>G p.S1985A Missense 20/20 - 1
1-27106343-C-A c.5954C>A p.S1985Y Missense 20/20 - 1
1-27106343-C-G c.5954C>G p.S1985C Missense 20/20 - 1
1-27106343-C-T c.5954C>T p.S1985F Missense 20/20 - 1
1-27106345-A-G c.5956A>G p.N1986D Missense 20/20 - 1
1-27106346-A-G c.5957A>G p.N1986S Missense 20/20 - 3
1-27106347-AT-A c.5958del p.N1986Kfs*29 Frameshift 20/20 - 1
1-27106347-T-C c.5958T>C p.N1986= Synonymous 20/20 - 1
1-27106348-A-G c.5959A>G p.T1987A Missense 20/20 - 1
1-27106349-C-T c.5960C>T p.T1987I Missense 20/20 - 2
1-27106351-A-G c.5962A>G p.I1988V Missense 20/20 - 1
1-27106352-T-G c.5963T>G p.I1988S Missense 20/20 - 1
1-27106353-T-A c.5964T>A p.I1988= Synonymous 20/20 - 1
1-27106353-T-C c.5964T>C p.I1988= Synonymous 20/20 - 1
1-27106353-T-G c.5964T>G p.I1988M Missense 20/20 - 1
1-27106354-C-G c.5965C>G p.R1989G Missense 20/20 - 1
1-27106354-CGA-ATG c.5965_5967delinsATG p.R1989M Missense 20/20 - 1
1-27106354-C-T c.5965C>T p.R1989* Nonsense 20/20 - 99
1-27106355-G-A c.5966G>A p.R1989Q Missense 20/20 - 7
1-27106355-G-T c.5966G>T p.R1989L Missense 20/20 - 1
1-27106354-CGAAGCCTGTCATTTGT-C c.5967_5982del p.S1990Qfs*20 Frameshift 20/20 - 1
1-27106357-A-G c.5968A>G p.S1990G Missense 20/20 - 2
1-27106358-G-A c.5969G>A p.S1990N Missense 20/20 - 1
1-27106359-C-T c.5970C>T p.S1990= Synonymous 20/20 - 2
1-27106358-GC-G c.5971del p.L1991Cfs*24 Frameshift 20/20 - 1
1-27106360-C-A c.5971C>A p.L1991M Missense 20/20 - 2
1-27106361-T-A c.5972T>A p.L1991Q Missense 20/20 - 1
1-27106362-G-T c.5973G>T p.L1991= Synonymous 20/20 - 1
1-27106363-GT-G c.5974del p.S1992Hfs*23 Frameshift 20/20 - 1
1-27106363-T-C c.5974T>C p.S1992P Missense 20/20 - 14
1-27106364-C-A c.5975C>A p.S1992* Nonsense 20/20 - 6
1-27106364-C-G c.5975C>G p.S1992* Nonsense 20/20 - 7
1-27106364-C-T c.5975C>T p.S1992L Missense 20/20 - 3
1-27106365-A-G c.5976A>G p.S1992= Synonymous 20/20 - 1
1-27106365-AT-A c.5979del p.F1993Lfs*22 Frameshift 20/20 - 1
1-27106369-G-T c.5980G>T p.V1994L Missense 20/20 - 2
1-27106369-TG-T c.5980del p.V1994Cfs*21 Frameshift 20/20 - 1
1-27106370-GT-G c.5981del p.V1994Gfs*21 Frameshift 20/20 - 1
1-27106372-C-T c.5983C>T p.P1995S Missense 20/20 - 5
1-27106376-G-A c.5987G>A p.G1996D Missense 20/20 - 2
1-27106378-A-G c.5989A>G p.N1997D Missense 20/20 - 3
1-27106378-A-T c.5989A>T p.N1997Y Missense 20/20 - 1
1-27106379-AATGACTTTGAGATGTCCAAACACCCAG-A c.5990_6016del p.N1997_G2006delinsR MultiAAMissense 20/20 - 1
1-27106380-T-C c.5991T>C p.N1997= Synonymous 20/20 - 1
1-27106381-G-A c.5992G>A p.D1998N Missense 20/20 - 1
1-27106382-A-G c.5993A>G p.D1998G Missense 20/20 - 1
1-27106380-TGACTTTGA-T c.5994_6001del p.F1999Vfs*31 Frameshift 20/20 - 1
1-27106383-C-T c.5994C>T p.D1998= Synonymous 20/20 - 1
1-27106383-CTT-C c.5996_5997del p.F1999* Frameshift 20/20 - 3
1-27106384-T-TTCCA c.5996_5997insCCAT p.E2000Hfs*2 Frameshift 20/20 - 1
1-27106385-T-A c.5996T>A p.F1999Y Missense 20/20 - 1
1-27106385-TTTG-T c.5996_5998del p.F1999_E2000delins* MultiAAMissense 20/20 - 1
1-27106383-C-CT c.5997dup p.E2000* Nonsense 20/20 - 2
1-27106383-CT-C c.5997del p.F1999Lfs*16 Frameshift 20/20 - 1
1-27106386-TTGAGATGTCC-T c.5997_6006del p.F1999Lfs*13 Frameshift 20/20 - 1
1-27106387-G-A c.5998G>A p.E2000K Missense 20/20 - 1
1-27106387-G-C c.5998G>C p.E2000Q Missense 20/20 - 6
1-27106387-G-T c.5998G>T p.E2000* Nonsense 20/20 - 1
1-27106389-G-C c.6000G>C p.E2000D Missense 20/20 - 1
1-27106389-G-T c.6000G>T p.E2000D Missense 20/20 - 1
1-27106391-T-C c.6002T>C p.M2001T Missense 20/20 - 1
1-27106392-G-A c.6003G>A p.M2001I Missense 20/20 - 1
1-27106393-T-C c.6004T>C p.S2002P Missense 20/20 - 1
1-27106394-C-T c.6005C>T p.S2002F Missense 20/20 - 1
1-27106401-C-G c.6012C>G p.H2004Q Missense 20/20 - 1
1-27106401-C-T c.6012C>T p.H2004= Synonymous 20/20 - 1
1-27106403-C-T c.6014C>T p.P2005L Missense 20/20 - 1
1-27106405-G-T c.6016G>T p.G2006W Missense 20/20 - 1
1-27106406-G-A c.6017G>A p.G2006E Missense 20/20 - 3
1-27106406-G-C c.6017G>C p.G2006A Missense 20/20 - 1
1-27106406-G-T c.6017G>T p.G2006V Missense 20/20 - 1
1-27106408-CTG-TTT c.6019_6021delinsTTT p.L2007F Missense 20/20 - 1
1-27106404-AGGGCTGCTGCTCATCCT-A c.6020_6036del p.L2007Qfs*20 Frameshift 20/20 - 1
1-27106409-T-G c.6020T>G p.L2007R Missense 20/20 - 1
1-27106408-C-T c.6019C>T p.L2007= Synonymous 20/20 - 1
1-27106410-G-A c.6021G>A p.L2007= Synonymous 20/20 - 1
1-27106410-G-C c.6021G>C p.L2007= Synonymous 20/20 - 1
1-27106410-G-T c.6021G>T p.L2007= Synonymous 20/20 - 1
1-27106407-GCTGCTGCTCATC-G c.6022_6033del p.L2008_L2011del InFrameDeletion 20/20 - 1
1-27106412-T-A c.6023T>A p.L2008Q Missense 20/20 - 2
1-27106412-T-G c.6023T>G p.L2008R Missense 20/20 - 8
1-27106406-GGCT-G c.6024_6026del p.L2009del InFrameDeletion 20/20 - 1
1-27106414-C-A c.6025C>A p.L2009I Missense 20/20 - 1
1-27106414-C-G c.6025C>G p.L2009V Missense 20/20 - 1
1-27106414-C-T c.6025C>T p.L2009F Missense 20/20 - 2
1-27106407-GCTGCTGCTCATCCTGGGCAAGCTGATC-G c.6026_6052del p.L2009_L2017del InFrameDeletion 20/20 - 2
1-27106417-A-G c.6028A>G p.I2010V Missense 20/20 - 2
1-27106419-C-G c.6030C>G p.I2010M Missense 20/20 - 1
1-27106420-C-CT c.6032dup p.K2013Qfs*20 Frameshift 20/20 - 1
1-27106421-T-A c.6032T>A p.L2011Q Missense 20/20 - 1
1-27106421-T-G c.6032T>G p.L2011R Missense 20/20 - 6
1-27106423-G-C c.6034G>C p.G2012R Missense 20/20 - 5
1-27106423-G-T c.6034G>T p.G2012C Missense 20/20 - 1
1-27106424-G-A c.6035G>A p.G2012D Missense 20/20 - 4
1-27106426-A-T c.6037A>T p.K2013* Nonsense 20/20 - 1
1-27106428-G-A c.6039G>A p.K2013= Synonymous 20/20 - 1
1-27106430-T-C c.6041T>C p.L2014P Missense 20/20 - 1
1-27106431-G-A c.6042G>A p.L2014= Synonymous 20/20 - 1
1-27106432-A-T c.6043A>T p.I2015F Missense 20/20 - 5
1-27106433-TC-T c.6046del p.L2016Cfs*14 Frameshift 20/20 - 3
1-27106436-T-A c.6047T>A p.L2016Q Missense 20/20 - 1
1-27106436-T-G c.6047T>G p.L2016R Missense 20/20 - 1
1-27106438-C-A c.6049C>A p.L2017M Missense 20/20 - 1
1-27106439-T-C c.6050T>C p.L2017P Missense 20/20 - 1
1-27106440-TGCACCAC-T c.6051_6057del p.H2018Sfs*10 Frameshift 20/20 - 1
1-27106441-C-T c.6052C>T p.H2018Y Missense 20/20 - 3
1-27106442-A-G c.6053A>G p.H2018R Missense 20/20 - 2
1-27106444-C-A c.6055C>A p.H2019N Missense 20/20 - 5
1-27106445-A-G c.6056A>G p.H2019R Missense 20/20 - 1
1-27106445-A-T c.6056A>T p.H2019L Missense 20/20 - 1
1-27106445-CACAAGCACCCAGAACGGAA-C c.6056_6074del p.H2019Rfs*5 Frameshift 20/20 - 1
1-27106446-C-T c.6057C>T p.H2019= Synonymous 20/20 - 1
1-27106447-A-G c.6058A>G p.K2020E Missense 20/20 - 1
1-27106447-A-T c.6058A>T p.K2020* Nonsense 20/20 - 1
1-27106449-G-C c.6060G>C p.K2020N Missense 20/20 - 1
1-27106449-G-T c.6060G>T p.K2020N Missense 20/20 - 1
1-27106450-C-T c.6061C>T p.H2021Y Missense 20/20 - 1
1-27106451-A-T c.6062A>T p.H2021L Missense 20/20 - 1
1-27106452-C-T c.6063C>T p.H2021= Synonymous 20/20 - 1
1-27106454-C-T c.6065C>T p.P2022L Missense 20/20 - 2
1-27106455-A-C c.6066A>C p.P2022= Synonymous 20/20 - 1
1-27106456-G-A c.6067G>A p.E2023K Missense 20/20 - 3
1-27106456-G-T c.6067G>T p.E2023* Nonsense 20/20 - 3
1-27106457-GAA-G c.6068_6069del p.E2023Afs*9 Frameshift 20/20 - 1
1-27106456-GA-G c.6069del p.E2023Dfs*7 Frameshift 20/20 - 1
1-27106459-C-T c.6070C>T p.R2024W Missense 20/20 - 3
1-27106460-G-A c.6071G>A p.R2024Q Missense 20/20 - 3
1-27106460-G-T c.6071G>T p.R2024L Missense 20/20 - 1
1-27106459-CG-C c.6072del p.K2025Sfs*5 Frameshift 20/20 - 1
1-27106461-G-A c.6072G>A p.R2024= Synonymous 20/20 - 1
1-27106461-G-GT c.6072_6073insT p.K2025* Nonsense 20/20 - 1
1-27106463-A-C c.6074A>C p.K2025T Missense 20/20 - 4
1-27106464-G-C c.6075G>C p.K2025N Missense 20/20 - 2
1-27106464-G-T c.6075G>T p.K2025N Missense 20/20 - 1
1-27106465-C-G c.6076C>G p.Q2026E Missense 20/20 - 1
1-27106465-C-T c.6076C>T p.Q2026* Nonsense 20/20 - 9
1-27106465-C-CA c.6077dup p.A2027Gfs*6 Frameshift 20/20 - 1
1-27106468-G-C c.6079G>C p.A2027P Missense 20/20 - 1
1-27106468-GCA-TGT c.6079_6081delinsTGT p.A2027C Missense 20/20 - 1
1-27106469-C-T c.6080C>T p.A2027V Missense 20/20 - 2
1-27106471-C-T c.6082C>T p.P2028S Missense 20/20 - 2
1-27106480-T-TA c.6092dup p.Y2031* Nonsense 20/20 - 4
1-27106481-A-TT c.6092delinsTT p.Y2031Ffs*2 Frameshift 20/20 - 1
1-27106482-T-A c.6093T>A p.Y2031* Nonsense 20/20 - 5
1-27106482-T-G c.6093T>G p.Y2031* Nonsense 20/20 - 3
1-27106483-G-A c.6094G>A p.E2032K Missense 20/20 - 7
1-27106483-G-T c.6094G>T p.E2032* Nonsense 20/20 - 2
1-27106485-A-G c.6096A>G p.E2032= Synonymous 20/20 - 1
1-27106483-GAA-G c.6097_6098del p.K2033Gfs*65 Frameshift 20/20 - 1
1-27106486-A-T c.6097A>T p.K2033* Nonsense 20/20 - 1
1-27106483-GA-G c.6098del p.K2033Rfs*9 Frameshift 20/20 - 2
1-27106483-G-GA c.6098dup p.E2034Gfs*65 Frameshift 20/20 - 1
1-27106489-G-T c.6100G>T p.E2034* Nonsense 20/20 - 4
1-27106490-A-G c.6101A>G p.E2034G Missense 20/20 - 1
1-27106491-G-A c.6102G>A p.E2034= Synonymous 20/20 - 1
1-27106492-G-A c.6103G>A p.E2035K Missense 20/20 - 8
1-27106492-G-T c.6103G>T p.E2035* Nonsense 20/20 - 11
1-27106494-G-C c.6105G>C p.E2035D Missense 20/20 - 1
1-27106494-G-T c.6105G>T p.E2035D Missense 20/20 - 1
1-27106495-G-A c.6106G>A p.E2036K Missense 20/20 - 1
1-27106495-G-C c.6106G>C p.E2036Q Missense 20/20 - 1
1-27106495-G-T c.6106G>T p.E2036* Nonsense 20/20 - 3
1-27106496-A-T c.6107A>T p.E2036V Missense 20/20 - 1
1-27106496-GAA-G c.6107_6108del p.E2036Afs*62 Frameshift 20/20 - 1
1-27106497-A-AC c.6109dup p.Q2037Pfs*62 Frameshift 20/20 - 2
1-27106498-C-T c.6109C>T p.Q2037* Nonsense 20/20 - 16
1-27106501-G-A c.6112G>A p.D2038N Missense 20/20 - 2
1-27106501-G-T c.6112G>T p.D2038Y Missense 20/20 - 3
1-27106502-A-C c.6113A>C p.D2038A Missense 20/20 - 1
1-27106504-C-T c.6115C>T p.Q2039* Nonsense 20/20 - 3
1-27106505-A-AT c.6116_6117insT p.Q2039Hfs*60 Frameshift 20/20 - 1
1-27106505-A-G c.6116A>G p.Q2039R Missense 20/20 - 1
1-27106507-G-A c.6118G>A p.G2040R Missense 20/20 - 4
1-27106507-G-C c.6118G>C p.G2040R Missense 20/20 - 2
1-27106511-T-C c.6122T>C p.V2041A Missense 20/20 - 5
1-27106512-G-A c.6123G>A p.V2041= Synonymous 20/20 - 2
1-27106512-G-C c.6123G>C p.V2041= Synonymous 20/20 - 2
1-27106512-G-T c.6123G>T p.V2041= Synonymous 20/20 - 2
1-27106513-AG-TT c.6124_6125delinsTT p.S2042F Missense 20/20 - 1
1-27106513-A-T c.6124A>T p.S2042C Missense 20/20 - 1
1-27106516-T-A c.6127T>A p.C2043S Missense 20/20 - 1
1-27106516-T-C c.6127T>C p.C2043R Missense 20/20 - 1
1-27106517-G-C c.6128G>C p.C2043S Missense 20/20 - 1
1-27106517-G-A c.6128G>A p.C2043Y Missense 20/20 - 1
1-27106518-GC-G c.6129del p.C2043* Frameshift 20/20 - 2
1-27106519-A-G c.6130A>G p.N2044D Missense 20/20 - 6
1-27106520-A-G c.6131A>G p.N2044S Missense 20/20 - 2
1-27106522-A-T c.6133A>T p.K2045* Nonsense 20/20 - 2
1-27106523-AAAGTG-A c.6134_6138del p.K2045Rfs*52 Frameshift 20/20 - 1
1-27106524-A-C c.6135A>C p.K2045N Missense 20/20 - 1
1-27106524-A-T c.6135A>T p.K2045N Missense 20/20 - 1
1-27106525-G-C c.6136G>C p.V2046L Missense 20/20 - 1
1-27106525-G-GA c.6136_6137insA p.V2046Dfs*53 Frameshift 20/20 - 1
1-27106525-G-T c.6136G>T p.V2046L Missense 20/20 - 1
1-27106525-GTG-ATC c.6136_6138delinsATC p.V2046I Missense 20/20 - 1
1-27106526-T-A c.6137T>A p.V2046E Missense 20/20 - 2
1-27106526-T-C c.6137T>C p.V2046A Missense 20/20 - 2
1-27106527-G-A c.6138G>A p.V2046= Synonymous 20/20 - 1
1-27106528-G-A c.6139G>A p.E2047K Missense 20/20 - 4
1-27106528-G-T c.6139G>T p.E2047* Nonsense 20/20 - 8
1-27106530-G-C c.6141G>C p.E2047D Missense 20/20 - 1
1-27106530-G-T c.6141G>T p.E2047D Missense 20/20 - 1
1-27106531-T-G c.6142T>G p.W2048G Missense 20/20 - 1
1-27106532-G-A c.6143G>A p.W2048* Nonsense 20/20 - 6
1-27106533-G-A c.6144G>A p.W2048* Nonsense 20/20 - 10
1-27106534-T-TA c.6145_6146insA p.W2049* Nonsense 20/20 - 1
1-27106535-G-A c.6146G>A p.W2049* Nonsense 20/20 - 7
1-27106536-G-A c.6147G>A p.W2049* Nonsense 20/20 - 8
1-27106537-T-G c.6148T>G p.W2050G Missense 20/20 - 2
1-27106538-G-A c.6149G>A p.W2050* Nonsense 20/20 - 8
1-27106539-G-A c.6150G>A p.W2050* Nonsense 20/20 - 10
1-27106539-G-C c.6150G>C p.W2050C Missense 20/20 - 1
1-27106539-G-T c.6150G>T p.W2050C Missense 20/20 - 1
1-27106540-G-A c.6151G>A p.D2051N Missense 20/20 - 1
1-27106545-C-A c.6156C>A p.C2052* Nonsense 20/20 - 4
1-27106545-CT-C c.6158del p.L2053Wfs*82 Frameshift 20/20 - 1
1-27106547-T-C c.6158T>C p.L2053S Missense 20/20 - 2
1-27106548-GG-TT c.6159_6160delinsTT p.L2053_E2054delinsF* MultiAAMissense 20/20 - 1
1-27106549-G-A c.6160G>A p.E2054K Missense 20/20 - 1
1-27106549-G-T c.6160G>T p.E2054* Nonsense 20/20 - 4
1-27106544-GCTTGGAGATGCTCCGGGAAAACAC-G c.6161_6184del p.E2054_L2061del InFrameDeletion 20/20 - 1
1-27106550-GAGATGCTCCGGGAAAACACC-G c.6161_6180del p.E2054Vfs*38 Frameshift 20/20 - 1
1-27106553-T-C c.6164T>C p.M2055T Missense 20/20 - 1
1-27106554-G-A c.6165G>A p.M2055I Missense 20/20 - 3
1-27106554-G-C c.6165G>C p.M2055I Missense 20/20 - 2
1-27106554-G-T c.6165G>T p.M2055I Missense 20/20 - 2
1-27106555-C-A c.6166C>A p.L2056I Missense 20/20 - 1
1-27106556-T-A c.6167T>A p.L2056H Missense 20/20 - 2
1-27106556-T-C c.6167T>C p.L2056P Missense 20/20 - 1
1-27106556-T-G c.6167T>G p.L2056R Missense 20/20 - 6
1-27106556-T-TG c.6167_6168insG p.R2057Pfs*42 Frameshift 20/20 - 1
1-27106558-C-G c.6169C>G p.R2057G Missense 20/20 - 2
1-27106558-C-T c.6169C>T p.R2057W Missense 20/20 - 1
1-27106559-G-A c.6170G>A p.R2057Q Missense 20/20 - 5
1-27106561-G-T c.6172G>T p.E2058* Nonsense 20/20 - 1
1-27106562-A-G c.6173A>G p.E2058G Missense 20/20 - 1
1-27106563-A-AT c.6174_6175insT p.N2059* Nonsense 20/20 - 1
1-27106561-GA-G c.6176del p.N2059Tfs*76 Frameshift 20/20 - 1
1-27106563-AAAC-A c.6176_6178del p.N2059del InFrameDeletion 20/20 - 1
1-27106565-A-C c.6176A>C p.N2059T Missense 20/20 - 1
1-27106566-C-A c.6177C>A p.N2059K Missense 20/20 - 1
1-27106568-C-T c.6179C>T p.T2060I Missense 20/20 - 1
1-27106569-C-A c.6180C>A p.T2060= Synonymous 20/20 - 1
1-27106569-C-G c.6180C>G p.T2060= Synonymous 20/20 - 1
1-27106569-C-T c.6180C>T p.T2060= Synonymous 20/20 - 2
1-27106569-CT-C c.6182del p.L2061Wfs*74 Frameshift 20/20 - 1
1-27106571-T-C c.6182T>C p.L2061S Missense 20/20 - 2
1-27106571-TGGTTACACTC-T c.6184_6193del p.V2062Pfs*70 Frameshift 20/20 - 1
1-27106575-T-C c.6186T>C p.V2062= Synonymous 20/20 - 1
1-27106576-A-G c.6187A>G p.T2063A Missense 20/20 - 2
1-27106577-C-G c.6188C>G p.T2063R Missense 20/20 - 1
1-27106577-C-T c.6188C>T p.T2063I Missense 20/20 - 5
1-27106575-TAC-T c.6189_6190del p.L2064Rfs*34 Frameshift 20/20 - 1
1-27106578-A-C c.6189A>C p.T2063= Synonymous 20/20 - 1
1-27106579-ACTC-A c.6190_6192del p.L2064del InFrameDeletion 20/20 - 1
1-27106579-C-T c.6190C>T p.L2064F Missense 20/20 - 2
1-27106579-CTC-TAA c.6190_6192delinsTAA p.L2064* Nonsense 20/20 - 1
1-27106580-T-A c.6191T>A p.L2064H Missense 20/20 - 1
1-27106580-T-C c.6191T>C p.L2064P Missense 20/20 - 5
1-27106580-T-G c.6191T>G p.L2064R Missense 20/20 - 3
1-27106581-C-A c.6192C>A p.L2064= Synonymous 20/20 - 2
1-27106581-C-G c.6192C>G p.L2064= Synonymous 20/20 - 2
1-27106581-C-T c.6192C>T p.L2064= Synonymous 20/20 - 2
1-27106582-G-A c.6193G>A p.A2065T Missense 20/20 - 5
1-27106583-C-T c.6194C>T p.A2065V Missense 20/20 - 4
1-27106585-A-G c.6196A>G p.N2066D Missense 20/20 - 4
1-27106585-A-T c.6196A>T p.N2066Y Missense 20/20 - 2
1-27106584-CA-C c.6197del p.N2066Tfs*69 Frameshift 20/20 - 2
1-27106586-A-G c.6197A>G p.N2066S Missense 20/20 - 2
1-27106587-C-T c.6198C>T p.N2066= Synonymous 20/20 - 1
1-27106589-T-A c.6200T>A p.I2067N Missense 20/20 - 1
1-27106589-T-G c.6200T>G p.I2067S Missense 20/20 - 1
1-27106590-C-G c.6201C>G p.I2067M Missense 20/20 - 2
1-27106591-T-C c.6202T>C p.S2068P Missense 20/20 - 1
1-27106592-C-A c.6203C>A p.S2068* Nonsense 20/20 - 2
1-27106592-C-G c.6203C>G p.S2068W Missense 20/20 - 3
1-27106592-C-T c.6203C>T p.S2068L Missense 20/20 - 3
1-27106592-CG-C c.6207del p.Q2070Sfs*65 Frameshift 20/20 - 4
1-27106596-G-A c.6207G>A p.G2069= Synonymous 20/20 - 2
1-27106596-G-C c.6207G>C p.G2069= Synonymous 20/20 - 2
1-27106596-G-T c.6207G>T p.G2069= Synonymous 20/20 - 2
1-27106597-C-T c.6208C>T p.Q2070* Nonsense 20/20 - 7
1-27106598-A-T c.6209A>T p.Q2070L Missense 20/20 - 1
1-27106599-G-C c.6210G>C p.Q2070H Missense 20/20 - 3
1-27106599-G-T c.6210G>T p.Q2070H Missense 20/20 - 6
1-27106600-T-C c.6211T>C p.L2071= Synonymous 20/20 - 2
1-27106602-G-A c.6213G>A p.L2071= Synonymous 20/20 - 2
1-27106601-T-C c.6212T>C p.L2071S Missense 20/20 - 5
1-27106603-G-A c.6214G>A p.D2072N Missense 20/20 - 2
1-27106603-G-C c.6214G>C p.D2072H Missense 20/20 - 1
1-27106603-G-T c.6214G>T p.D2072Y Missense 20/20 - 1
1-27106606-C-G c.6217C>G p.L2073V Missense 20/20 - 1
1-27106606-C-T c.6217C>T p.L2073= Synonymous 20/20 - 1
1-27106609-T-G c.6220T>G p.S2074A Missense 20/20 - 1
1-27106610-C-CTAT c.6222_6223insATT p.S2074_P2075insI InFrameInsertion 20/20 - 1
1-27106611-T-C c.6222T>C p.S2074= Synonymous 20/20 - 1
1-27106612-C-G c.6223C>G p.P2075A Missense 20/20 - 1
1-27106612-C-T c.6223C>T p.P2075S Missense 20/20 - 2
1-27106613-C-A c.6224C>A p.P2075Q Missense 20/20 - 1
1-27106613-C-CT c.6224_6225insT p.Y2076Ifs*23 Frameshift 20/20 - 1
1-27106614-A-C c.6225A>C p.P2075= Synonymous 20/20 - 1
1-27106614-A-G c.6225A>G p.P2075= Synonymous 20/20 - 1
1-27106614-A-T c.6225A>T p.P2075= Synonymous 20/20 - 1
1-27106614-CA-C c.6225del p.Y2076Tfs*59 Frameshift 20/20 - 1
1-27106617-C-A c.6228C>A p.Y2076* Nonsense 20/20 - 5
1-27106617-C-G c.6228C>G p.Y2076* Nonsense 20/20 - 5
1-27106617-C-T c.6228C>T p.Y2076= Synonymous 20/20 - 4
1-27106618-C-T c.6229C>T p.P2077S Missense 20/20 - 3
1-27106616-A-AC c.6231dup p.E2078Rfs*21 Frameshift 20/20 - 1
1-27106620-C-T c.6231C>T p.P2077= Synonymous 20/20 - 2
1-27106621-G-A c.6232G>A p.E2078K Missense 20/20 - 6
1-27106621-G-T c.6232G>T p.E2078* Nonsense 20/20 - 5
1-27106623-G-C c.6234G>C p.E2078D Missense 20/20 - 2
1-27106623-G-T c.6234G>T p.E2078D Missense 20/20 - 1
1-27106625-G-T c.6236G>T p.S2079I Missense 20/20 - 5
1-27106629-T-C c.6240T>C p.I2080= Synonymous 20/20 - 2
1-27106631-G-A c.6242G>A p.C2081Y Missense 20/20 - 1
1-27106631-G-T c.6242G>T p.C2081F Missense 20/20 - 1
1-27106632-C-T c.6243C>T p.C2081= Synonymous 20/20 - 3
1-27106634-T-TG c.6246dup p.P2083Afs*16 Frameshift 20/20 - 1
1-27106629-TTGCC-T c.6247_6250del p.P2083Sfs*51 Frameshift 20/20 - 2
1-27106636-C-T c.6247C>T p.P2083S Missense 20/20 - 1
1-27106637-C-A c.6248C>A p.P2083H Missense 20/20 - 1
1-27106637-C-T c.6248C>T p.P2083L Missense 20/20 - 2
1-27106640-T-A c.6251T>A p.V2084D Missense 20/20 - 1
1-27106640-T-G c.6251T>G p.V2084G Missense 20/20 - 4
1-27106640-T-TG c.6251_6252insG p.L2085Pfs*14 Frameshift 20/20 - 1
1-27106641-C-G c.6252C>G p.V2084= Synonymous 20/20 - 2
1-27106641-C-T c.6252C>T p.V2084= Synonymous 20/20 - 2
1-27106640-TC-T c.6253del p.L2085Wfs*50 Frameshift 20/20 - 1
1-27106642-C-A c.6253C>A p.L2085M Missense 20/20 - 1
1-27106643-T-G c.6254T>G p.L2085R Missense 20/20 - 2
1-27106645-G-A c.6256G>A p.D2086N Missense 20/20 - 5
1-27106647-C-T c.6258C>T p.D2086= Synonymous 20/20 - 1
1-27106648-G-A c.6259G>A p.G2087R Missense 20/20 - 54
1-27106648-G-C c.6259G>C p.G2087R Missense 20/20 - 23
1-27106648-GG-AA c.6259_6260delinsAA p.G2087K Missense 20/20 - 3
1-27106648-GGA-AAC c.6259_6261delinsAAC p.G2087N Missense 20/20 - 1
1-27106648-G-T c.6259G>T p.G2087* Nonsense 20/20 - 3
1-27106649-G-A c.6260G>A p.G2087E Missense 20/20 - 17
1-27106649-G-T c.6260G>T p.G2087V Missense 20/20 - 5
1-27106652-T-C c.6263T>C p.L2088P Missense 20/20 - 1
1-27106650-ACTC-A c.6264_6266del p.L2089del InFrameDeletion 20/20 - 2
1-27106653-TCC-T c.6264_6265del p.L2089Tfs*9 Frameshift 20/20 - 2
1-27106654-CT-TA c.6265_6266delinsTA p.L2089* Nonsense 20/20 - 1
1-27106653-CCTA-C c.6266_6268del p.L2089del InFrameDeletion 20/20 - 1
1-27106655-T-A c.6266T>A p.L2089Q Missense 20/20 - 1
1-27106655-T-C c.6266T>C p.L2089P Missense 20/20 - 4
1-27106658-A-C c.6269A>C p.H2090P Missense 20/20 - 1
1-27106658-A-G c.6269A>G p.H2090R Missense 20/20 - 1
1-27106658-A-T c.6269A>T p.H2090L Missense 20/20 - 1
1-27106659-C-A c.6270C>A p.H2090Q Missense 20/20 - 2
1-27106659-C-G c.6270C>G p.H2090Q Missense 20/20 - 1
1-27106661-G-A c.6272G>A p.W2091* Nonsense 20/20 - 5
1-27106662-G-A c.6273G>A p.W2091* Nonsense 20/20 - 10
1-27106662-G-T c.6273G>T p.W2091C Missense 20/20 - 1
1-27106663-G-C c.6274G>C p.A2092P Missense 20/20 - 1
1-27106664-C-A c.6275C>A p.A2092E Missense 20/20 - 1
1-27106664-C-T c.6275C>T p.A2092V Missense 20/20 - 1
1-27106665-A-T c.6276A>T p.A2092= Synonymous 20/20 - 1
1-27106666-G-A c.6277G>A p.V2093I Missense 20/20 - 1
1-27106666-G-T c.6277G>T p.V2093F Missense 20/20 - 1
1-27106663-GCAGTTTGCCCTTCAGCTGAAGCC-G c.6278_6300del p.V2093Gfs*49 Frameshift 20/20 - 2
1-27106668-T-A c.6279T>A p.V2093= Synonymous 20/20 - 1
1-27106668-T-C c.6279T>C p.V2093= Synonymous 20/20 - 1
1-27106668-T-G c.6279T>G p.V2093= Synonymous 20/20 - 1
1-27106669-T-G c.6280T>G p.C2094G Missense 20/20 - 1
1-27106670-G-A c.6281G>A p.C2094Y Missense 20/20 - 1
1-27106671-C-A c.6282C>A p.C2094* Nonsense 20/20 - 2
1-27106672-C-T c.6283C>T p.P2095S Missense 20/20 - 1
1-27106673-C-T c.6284C>T p.P2095L Missense 20/20 - 1
1-27106673-CT-C c.6286del p.S2096Qfs*39 Frameshift 20/20 - 1
1-27106676-C-A c.6287C>A p.S2096* Nonsense 20/20 - 2
1-27106676-C-G c.6287C>G p.S2096* Nonsense 20/20 - 4
1-27106676-C-T c.6287C>T p.S2096L Missense 20/20 - 1
1-27106676-C-CA c.6288dup p.A2097Sfs*2 Frameshift 20/20 - 1
1-27106678-G-A c.6289G>A p.A2097T Missense 20/20 - 1
1-27106684-G-A c.6295G>A p.A2099T Missense 20/20 - 1
1-27106684-G-T c.6295G>T p.A2099S Missense 20/20 - 1
1-27106685-C-G c.6296C>G p.A2099G Missense 20/20 - 1
1-27106687-C-T c.6298C>T p.Q2100* Nonsense 20/20 - 6
1-27106689-G-GT c.6300_6301insT p.D2101* Nonsense 20/20 - 2
1-27106690-G-A c.6301G>A p.D2101N Missense 20/20 - 1
1-27106690-G-GA c.6302dup p.D2101Efs*49 Frameshift 20/20 - 1
1-27106691-A-C c.6302A>C p.D2101A Missense 20/20 - 1
1-27106693-C-CA c.6304_6305insA p.P2102Hfs*48 Frameshift 20/20 - 1
1-27106693-C-G c.6304C>G p.P2102A Missense 20/20 - 1
1-27106693-C-T c.6304C>T p.P2102S Missense 20/20 - 2
1-27106694-C-A c.6305C>A p.P2102H Missense 20/20 - 1
1-27106694-C-T c.6305C>T p.P2102L Missense 20/20 - 1
1-27106691-AC-A c.6306del p.S2104Pfs*31 Frameshift 20/20 - 2
1-27106695-C-A c.6306C>A p.P2102= Synonymous 20/20 - 2
1-27106695-C-G c.6306C>G p.P2102= Synonymous 20/20 - 2
1-27106695-C-T c.6306C>T p.P2102= Synonymous 20/20 - 2
1-27106696-T-C c.6307T>C p.F2103L Missense 20/20 - 4
1-27106698-T-A c.6309T>A p.F2103L Missense 20/20 - 3
1-27106698-T-G c.6309T>G p.F2103L Missense 20/20 - 3
1-27106697-T-C c.6308T>C p.F2103S Missense 20/20 - 1
1-27106695-CT-C c.6310del p.S2104Pfs*31 Frameshift 20/20 - 1
1-27106699-T-C c.6310T>C p.S2104P Missense 20/20 - 5
1-27106700-C-T c.6311C>T p.S2104F Missense 20/20 - 8
1-27106702-A-C c.6313A>C p.T2105P Missense 20/20 - 1
1-27106703-C-T c.6314C>T p.T2105I Missense 20/20 - 1
1-27106702-ACC-A c.6315_6316del p.L2106Gfs*43 Frameshift 20/20 - 1
1-27106702-AC-A c.6316del p.L2106Wfs*29 Frameshift 20/20 - 1
1-27106705-C-A c.6316C>A p.L2106M Missense 20/20 - 2
1-27106708-G-T c.6319G>T p.G2107C Missense 20/20 - 1
1-27106711-C-T c.6322C>T p.P2108S Missense 20/20 - 2
1-27106712-C-A c.6323C>A p.P2108H Missense 20/20 - 1
1-27106712-C-T c.6323C>T p.P2108L Missense 20/20 - 2
1-27106713-C-T c.6324C>T p.P2108= Synonymous 20/20 - 2
1-27106715-A-G c.6326A>G p.N2109S Missense 20/20 - 2
1-27106715-A-T c.6326A>T p.N2109I Missense 20/20 - 2
1-27106717-G-A c.6328G>A p.A2110T Missense 20/20 - 3
1-27106717-G-T c.6328G>T p.A2110S Missense 20/20 - 1
1-27106718-C-T c.6329C>T p.A2110V Missense 20/20 - 1
1-27106717-GCCGTCCTTTCCCCGCAGAGA-G c.6330_6349del p.V2111Gfs*32 Frameshift 20/20 - 1
1-27106720-G-A c.6331G>A p.V2111I Missense 20/20 - 2
1-27106721-GTCCTTTCCCCGCAGAGACT-G c.6332_6350del p.V2111Gfs*18 Frameshift 20/20 - 3
1-27106722-C-T c.6333C>T p.V2111= Synonymous 20/20 - 1
1-27106723-C-T c.6334C>T p.L2112F Missense 20/20 - 1
1-27106723-CTT-TAA c.6334_6336delinsTAA p.L2112* Nonsense 20/20 - 1
1-27106724-T-A c.6335T>A p.L2112H Missense 20/20 - 1
1-27106723-CT-C c.6337del p.S2113Pfs*22 Frameshift 20/20 - 1
1-27106726-T-G c.6337T>G p.S2113A Missense 20/20 - 1
1-27106727-C-G c.6338C>G p.S2113C Missense 20/20 - 1
1-27106727-C-T c.6338C>T p.S2113F Missense 20/20 - 4
1-27106729-C-T c.6340C>T p.P2114S Missense 20/20 - 1
1-27106726-TC-T c.6341del p.P2114Rfs*21 Frameshift 20/20 - 4
1-27106726-T-TC c.6341dup p.Q2115Afs*35 Frameshift 20/20 - 1
1-27106730-C-A c.6341C>A p.P2114Q Missense 20/20 - 3
1-27106730-C-T c.6341C>T p.P2114L Missense 20/20 - 16
1-27106730-C-CG c.6342dup p.Q2115Afs*35 Frameshift 20/20 - 1
1-27106731-CG-C c.6342del p.Q2115Rfs*20 Frameshift 20/20 - 1
1-27106731-G-A c.6342G>A p.P2114= Synonymous 20/20 - 6
1-27106731-G-C c.6342G>C p.P2114= Synonymous 20/20 - 3
1-27106731-G-T c.6342G>T p.P2114= Synonymous 20/20 - 4
1-27106732-C-G c.6343C>G p.Q2115E Missense 20/20 - 1
1-27106732-C-T c.6343C>T p.Q2115* Nonsense 20/20 - 9
1-27106732-GCAGA-G c.6343_6346del p.Q2115Dfs*19 Frameshift 20/20 - 1
1-27106733-A-C c.6344A>C p.Q2115P Missense 20/20 - 1
1-27106735-A-T c.6346A>T p.R2116* Nonsense 20/20 - 2
1-27106732-CAG-C c.6347_6348del p.R2116Tfs*33 Frameshift 20/20 - 2
1-27106736-G-C c.6347G>C p.R2116T Missense 20/20 - 1
1-27106738-C-A c.6349C>A p.L2117M Missense 20/20 - 2
1-27106739-TG-T c.6352del p.V2118Sfs*17 Frameshift 20/20 - 1
1-27106741-G-A c.6352G>A p.V2118I Missense 20/20 - 1
1-27106742-T-A c.6353T>A p.V2118D Missense 20/20 - 1
1-27106742-T-G c.6353T>G p.V2118G Missense 20/20 - 1
1-27106745-T-C c.6356T>C p.L2119S Missense 20/20 - 1
1-27106745-TG-T c.6358del p.E2120Kfs*15 Frameshift 20/20 - 1
1-27106747-G-A c.6358G>A p.E2120K Missense 20/20 - 1
1-27106747-G-T c.6358G>T p.E2120* Nonsense 20/20 - 2
1-27106750-A-C c.6361A>C p.T2121P Missense 20/20 - 1
1-27106750-A-G c.6361A>G p.T2121A Missense 20/20 - 2
1-27106751-C-T c.6362C>T p.T2121I Missense 20/20 - 4
1-27106750-AC-A c.6364del p.L2122Sfs*13 Frameshift 20/20 - 1
1-27106753-C-T c.6364C>T p.L2122F Missense 20/20 - 1
1-27106754-T-C c.6365T>C p.L2122P Missense 20/20 - 1
1-27106754-T-G c.6365T>G p.L2122R Missense 20/20 - 1
1-27106756-A-G c.6367A>G p.S2123G Missense 20/20 - 1
1-27106756-CA-C c.6367del p.S2123Afs*12 Frameshift 20/20 - 1
1-27106756-A-C c.6367A>C p.S2123R Missense 20/20 - 1
1-27106758-C-A c.6369C>A p.S2123R Missense 20/20 - 1
1-27106758-C-G c.6369C>G p.S2123R Missense 20/20 - 1
1-27106761-A-G c.6372A>G p.K2124= Synonymous 20/20 - 3
1-27106762-C-T c.6373C>T p.L2125F Missense 20/20 - 2
1-27106763-T-G c.6374T>G p.L2125R Missense 20/20 - 1
1-27106766-G-A c.6377G>A p.S2126N Missense 20/20 - 2
1-27106770-C-G c.6381C>G p.I2127M Missense 20/20 - 3
1-27106769-TC-T c.6382del p.Q2128Rfs*7 Frameshift 20/20 - 1
1-27106771-C-T c.6382C>T p.Q2128* Nonsense 20/20 - 7
1-27106772-A-T c.6383A>T p.Q2128L Missense 20/20 - 1
1-27106772-CAGGACAACAATGTGGACCTGA-C c.6383_6403del p.Q2128_I2135delinsL MultiAAMissense 20/20 - 1
1-27106773-G-C c.6384G>C p.Q2128H Missense 20/20 - 2
1-27106772-AG-A c.6385del p.D2129Tfs*6 Frameshift 20/20 - 1
1-27106776-C-T c.6387C>T p.D2129= Synonymous 20/20 - 1
1-27106777-A-T c.6388A>T p.N2130Y Missense 20/20 - 1
1-27106778-A-C c.6389A>C p.N2130T Missense 20/20 - 1
1-27106778-A-G c.6389A>G p.N2130S Missense 20/20 - 2
1-27106779-AC-A c.6390del p.N2130Kfs*5 Frameshift 20/20 - 1
1-27106782-T-A c.6393T>A p.N2131K Missense 20/20 - 1
1-27106782-T-G c.6393T>G p.N2131K Missense 20/20 - 1
1-27106783-G-A c.6394G>A p.V2132M Missense 20/20 - 1
1-27106783-G-C c.6394G>C p.V2132L Missense 20/20 - 1
1-27106783-G-T c.6394G>T p.V2132L Missense 20/20 - 1
1-27106784-T-G c.6395T>G p.V2132G Missense 20/20 - 1
1-27106784-TG-T c.6397del p.D2133Tfs*2 Frameshift 20/20 - 1
1-27106786-G-A c.6397G>A p.D2133N Missense 20/20 - 1
1-27106787-A-T c.6398A>T p.D2133V Missense 20/20 - 1
1-27106787-AC-A c.6400del p.L2134* Frameshift 20/20 - 1
1-27106789-C-A c.6400C>A p.L2134M Missense 20/20 - 1
1-27106789-C-G c.6400C>G p.L2134V Missense 20/20 - 1
1-27106789-C-T c.6400C>T p.L2134= Synonymous 20/20 - 1
1-27106791-G-A c.6402G>A p.L2134= Synonymous 20/20 - 1
1-27106791-G-C c.6402G>C p.L2134= Synonymous 20/20 - 1
1-27106791-G-T c.6402G>T p.L2134= Synonymous 20/20 - 1
1-27106788-CCTGATT-C c.6403_6408del p.I2135_L2136del InFrameDeletion 20/20 - 4
1-27106792-A-C c.6403A>C p.I2135L Missense 20/20 - 1
1-27106792-A-G c.6403A>G p.I2135V Missense 20/20 - 3
1-27106793-T-A c.6404T>A p.I2135N Missense 20/20 - 5
1-27106793-T-G c.6404T>G p.I2135S Missense 20/20 - 1
1-27106795-TCTG-T c.6406_6408del p.L2136del InFrameDeletion 20/20 - 1
1-27106798-G-T c.6409G>T p.A2137S Missense 20/20 - 1
1-27106799-C-A c.6410C>A p.A2137D Missense 20/20 - 4
1-27106799-C-T c.6410C>T p.A2137V Missense 20/20 - 1
1-27106798-GC-G c.6411del p.T2138Hfs*62 Frameshift 20/20 - 1
1-27106798-G-GC c.6411dup p.T2138Hfs*12 Frameshift 20/20 - 1
1-27106801-CACA-C c.6412_6414del p.T2138del InFrameDeletion 20/20 - 1
1-27106802-C-G c.6413C>G p.T2138R Missense 20/20 - 1
1-27106804-C-G c.6415C>G p.P2139A Missense 20/20 - 1
1-27106805-C-A c.6416C>A p.P2139H Missense 20/20 - 6
1-27106805-C-T c.6416C>T p.P2139L Missense 20/20 - 1
1-27106807-C-A c.6418C>A p.P2140T Missense 20/20 - 1
1-27106807-C-G c.6418C>G p.P2140A Missense 20/20 - 1
1-27106803-ACC-A c.6419_6420del p.P2140Lfs*9 Frameshift 20/20 - 1
1-27106808-C-A c.6419C>A p.P2140H Missense 20/20 - 1
1-27106808-C-T c.6419C>T p.P2140L Missense 20/20 - 3
1-27106803-A-AC c.6420dup p.F2141Lfs*9 Frameshift 20/20 - 4
1-27106803-AC-A c.6420del p.F2141Sfs*59 Frameshift 20/20 - 15
1-27106806-CCCCTTCAGCCG-C c.6420_6430del p.F2141Gfs*5 Frameshift 20/20 - 2
1-27106809-C-T c.6420C>T p.P2140= Synonymous 20/20 - 3
1-27106810-T-C c.6421T>C p.F2141L Missense 20/20 - 1
1-27106812-C-A c.6423C>A p.F2141L Missense 20/20 - 1
1-27106812-C-G c.6423C>G p.F2141L Missense 20/20 - 1
1-27106809-CT-C c.6422del p.F2141Sfs*59 Frameshift 20/20 - 5
1-27106812-TC-T c.6423del p.F2141Lfs*59 Frameshift 20/20 - 1
1-27106813-A-T c.6424A>T p.S2142C Missense 20/20 - 1
1-27106814-G-A c.6425G>A p.S2142N Missense 20/20 - 1
1-27106813-A-C c.6424A>C p.S2142R Missense 20/20 - 1
1-27106815-C-A c.6426C>A p.S2142R Missense 20/20 - 1
1-27106815-C-G c.6426C>G p.S2142R Missense 20/20 - 1
1-27106815-C-T c.6426C>T p.S2142= Synonymous 20/20 - 2
1-27106813-AGCCGCCTGGAGAAGTTGTATAGCACTATGGT-A c.6427_6457del p.R2143Afs*47 Frameshift 20/20 - 1
1-27106816-C-T c.6427C>T p.R2143C Missense 20/20 - 13
1-27106817-G-A c.6428G>A p.R2143H Missense 20/20 - 6
1-27106817-G-T c.6428G>T p.R2143L Missense 20/20 - 2
1-27106820-T-A c.6431T>A p.L2144Q Missense 20/20 - 1
1-27106820-T-C c.6431T>C p.L2144P Missense 20/20 - 1
1-27106824-AG-A c.6435del p.K2146Sfs*54 Frameshift 20/20 - 1
1-27106825-A-T c.6436A>T p.K2146* Nonsense 20/20 - 1
1-27106826-A-T c.6437A>T p.K2146M Missense 20/20 - 1
1-27106827-AG-A c.6438del p.K2146Nfs*54 Frameshift 20/20 - 2
1-27106829-T-A c.6440T>A p.L2147* Nonsense 20/20 - 1
1-27106829-T-C c.6440T>C p.L2147S Missense 20/20 - 2
1-27106832-A-AT c.6444dup p.S2149* Nonsense 20/20 - 1
1-27106833-T-A c.6444T>A p.Y2148* Nonsense 20/20 - 1
1-27106833-T-C c.6444T>C p.Y2148= Synonymous 20/20 - 2
1-27106833-T-G c.6444T>G p.Y2148* Nonsense 20/20 - 1
1-27106834-AG-TT c.6445_6446delinsTT p.S2149F Missense 20/20 - 1
1-27106835-G-C c.6446G>C p.S2149T Missense 20/20 - 1
1-27106835-G-GC c.6447dup p.T2150Hfs*8 Frameshift 20/20 - 1
1-27106837-A-T c.6448A>T p.T2150S Missense 20/20 - 1
1-27106838-C-G c.6449C>G p.T2150S Missense 20/20 - 2
1-27106840-A-G c.6451A>G p.M2151V Missense 20/20 - 1
1-27106840-TA-T c.6451del p.M2151Wfs*49 Frameshift 20/20 - 1
1-27106843-G-C c.6454G>C p.V2152L Missense 20/20 - 3
1-27106843-G-T c.6454G>T p.V2152L Missense 20/20 - 2
1-27106844-T-C c.6455T>C p.V2152A Missense 20/20 - 1
1-27106846-C-A c.6457C>A p.R2153S Missense 20/20 - 3
1-27106846-C-T c.6457C>T p.R2153C Missense 20/20 - 5
1-27106847-G-A c.6458G>A p.R2153H Missense 20/20 - 5
1-27106847-G-T c.6458G>T p.R2153L Missense 20/20 - 4
1-27106850-T-C c.6461T>C p.F2154S Missense 20/20 - 1
1-27106852-C-T c.6463C>T p.L2155F Missense 20/20 - 1
1-27106852-CT-AG c.6463_6464inv p.L2155S Missense 20/20 - 1
1-27106852-CTC-AGCCCT c.6463_6465delinsAGCCCT p.L2155delinsSP MultiAAMissense 20/20 - 1
1-27106853-T-A c.6464T>A p.L2155H Missense 20/20 - 1
1-27106853-T-C c.6464T>C p.L2155P Missense 20/20 - 1
1-27106853-T-G c.6464T>G p.L2155R Missense 20/20 - 2
1-27106854-C-A c.6465C>A p.L2155= Synonymous 20/20 - 2
1-27106854-C-G c.6465C>G p.L2155= Synonymous 20/20 - 2
1-27106854-C-T c.6465C>T p.L2155= Synonymous 20/20 - 4
1-27106855-A-G c.6466A>G p.S2156G Missense 20/20 - 2
1-27106854-CAGTGACCGAAAGAACCCGGTGTGCCGGGAG-C c.6467_6496del p.S2156_E2165del InFrameDeletion 20/20 - 1
1-27106856-G-A c.6467G>A p.S2156N Missense 20/20 - 1
1-27106858-G-A c.6469G>A p.D2157N Missense 20/20 - 6
1-27106858-G-T c.6469G>T p.D2157Y Missense 20/20 - 1
1-27106860-C-T c.6471C>T p.D2157= Synonymous 20/20 - 1
1-27106861-C-A c.6472C>A p.R2158= Synonymous 20/20 - 6
1-27106861-C-G c.6472C>G p.R2158G Missense 20/20 - 1
1-27106861-CGA-AGC c.6472_6474delinsAGC p.R2158S Missense 20/20 - 1
1-27106861-C-T c.6472C>T p.R2158* Nonsense 20/20 - 30
1-27106863-A-C c.6474A>C p.R2158= Synonymous 20/20 - 1
1-27106863-A-G c.6474A>G p.R2158= Synonymous 20/20 - 1
1-27106863-A-T c.6474A>T p.R2158= Synonymous 20/20 - 1
1-27106862-CG-C c.6473del p.R2158Qfs*42 Frameshift 20/20 - 1
1-27106862-G-A c.6473G>A p.R2158Q Missense 20/20 - 14
1-27106864-A-T c.6475A>T p.K2159* Nonsense 20/20 - 2
1-27106861-CGAAA-C c.6476_6479del p.K2159Tfs*40 Frameshift 20/20 - 1
1-27106867-A-G c.6478A>G p.N2160D Missense 20/20 - 2
1-27106870-C-A c.6481C>A p.P2161T Missense 20/20 - 1
1-27106870-C-T c.6481C>T p.P2161S Missense 20/20 - 2
1-27106868-AC-A c.6482del p.P2161Rfs*39 Frameshift 20/20 - 1
1-27106871-C-A c.6482C>A p.P2161Q Missense 20/20 - 2
1-27106871-C-T c.6482C>T p.P2161L Missense 20/20 - 4
1-27106874-T-C c.6485T>C p.V2162A Missense 20/20 - 1
1-27106872-GGT-G c.6487_6488del p.C2163Pfs*61 Frameshift 20/20 - 1
1-27106876-T-C c.6487T>C p.C2163R Missense 20/20 - 1
1-27106878-C-T c.6489C>T p.C2163= Synonymous 20/20 - 1
1-27106879-CG-TA c.6490_6491delinsTA p.R2164* Missense 20/20 - 1
1-27106879-C-T c.6490C>T p.R2164W Missense 20/20 - 2
1-27106880-G-A c.6491G>A p.R2164Q Missense 20/20 - 4
1-27106880-G-T c.6491G>T p.R2164L Missense 20/20 - 3
1-27106880-GGGA-G c.6493_6495del p.E2165del InFrameDeletion 20/20 - 1
1-27106882-G-A c.6493G>A p.E2165K Missense 20/20 - 2
1-27106882-G-T c.6493G>T p.E2165* Nonsense 20/20 - 4
1-27106888-G-A c.6499G>A p.A2167T Missense 20/20 - 3
1-27106889-C-G c.6500C>G p.A2167G Missense 20/20 - 1
1-27106891-G-A c.6502G>A p.V2168M Missense 20/20 - 3
1-27106893-G-GT c.6504_6505insT p.V2169Cfs*56 Frameshift 20/20 - 2
1-27106894-G-A c.6505G>A p.V2169I Missense 20/20 - 1
1-27106894-G-T c.6505G>T p.V2169L Missense 20/20 - 1
1-27106895-T-G c.6506T>G p.V2169G Missense 20/20 - 1
1-27106898-T-C c.6509T>C p.L2170P Missense 20/20 - 1
1-27106900-C-T c.6511C>T p.L2171= Synonymous 20/20 - 2
1-27106901-CT-C c.6512del p.L2171Rfs*29 Frameshift 20/20 - 1
1-27106901-T-C c.6512T>C p.L2171P Missense 20/20 - 6
1-27106902-G-A c.6513G>A p.L2171= Synonymous 20/20 - 1
1-27106902-G-C c.6513G>C p.L2171= Synonymous 20/20 - 1
1-27106902-G-T c.6513G>T p.L2171= Synonymous 20/20 - 1
1-27106903-G-A c.6514G>A p.A2172T Missense 20/20 - 1
1-27106904-C-A c.6515C>A p.A2172D Missense 20/20 - 1
1-27106904-C-T c.6515C>T p.A2172V Missense 20/20 - 2
1-27106905-C-A c.6516C>A p.A2172= Synonymous 20/20 - 1
1-27106905-C-G c.6516C>G p.A2172= Synonymous 20/20 - 1
1-27106907-A-G c.6518A>G p.N2173S Missense 20/20 - 2
1-27106907-A-T c.6518A>T p.N2173I Missense 20/20 - 2
1-27106908-C-T c.6519C>T p.N2173= Synonymous 20/20 - 1
1-27106909-C-A c.6520C>A p.L2174M Missense 20/20 - 2
1-27106910-CT-C c.6521del p.L2174Rfs*26 Frameshift 20/20 - 1
1-27106910-T-G c.6521T>G p.L2174R Missense 20/20 - 4
1-27106912-G-T c.6523G>T p.A2175S Missense 20/20 - 1
1-27106913-C-G c.6524C>G p.A2175G Missense 20/20 - 2
1-27106914-T-C c.6525T>C p.A2175= Synonymous 20/20 - 1
1-27106915-C-G c.6526C>G p.Q2176E Missense 20/20 - 1
1-27106915-C-T c.6526C>T p.Q2176* Nonsense 20/20 - 7
1-27106916-A-T c.6527A>T p.Q2176L Missense 20/20 - 1
1-27106916-CA-C c.6527del p.Q2176Rfs*24 Frameshift 20/20 - 3
1-27106916-CAG-C c.6527_6528del p.Q2176Rfs*48 Frameshift 20/20 - 12
1-27106917-G-C c.6528G>C p.Q2176H Missense 20/20 - 1
1-27106918-G-A c.6529G>A p.G2177R Missense 20/20 - 8
1-27106918-G-C c.6529G>C p.G2177R Missense 20/20 - 5
1-27106920-G-GT c.6531_6532insT p.D2178* Nonsense 20/20 - 2
1-27106920-G-TT c.6531delinsTT p.D2178* Frameshift 20/20 - 1
1-27106916-A-AG c.6532dup p.D2178Gfs*47 Frameshift 20/20 - 1
1-27106916-AG-A c.6532del p.D2178Tfs*22 Frameshift 20/20 - 1
1-27106921-G-A c.6532G>A p.D2178N Missense 20/20 - 6
1-27106919-GGGACAGCCT-G c.6533_6541del p.D2178_L2180del InFrameDeletion 20/20 - 1
1-27106922-A-G c.6533A>G p.D2178G Missense 20/20 - 2
1-27106922-GA-G c.6533del p.D2178Afs*22 Frameshift 20/20 - 1
1-27106923-C-CT c.6534_6535insT p.S2179* Nonsense 20/20 - 1
1-27106924-A-AG c.6536dup p.S2179Rfs*46 Frameshift 20/20 - 1
1-27106927-C-G c.6538C>G p.L2180V Missense 20/20 - 1
1-27106924-AGCCTGGCAGCTCGT-A c.6539_6552del p.L2180Hfs*40 Frameshift 20/20 - 1
1-27106928-CTGGCAGCT-C c.6539_6546del p.L2180Pfs*42 Frameshift 20/20 - 1
1-27106928-TG-T c.6541del p.A2181Qfs*19 Frameshift 20/20 - 1
1-27106928-T-TG c.6541dup p.A2181Gfs*44 Frameshift 20/20 - 1
1-27106930-G-A c.6541G>A p.A2181T Missense 20/20 - 2
1-27106930-G-T c.6541G>T p.A2181S Missense 20/20 - 1
1-27106931-C-G c.6542C>G p.A2181G Missense 20/20 - 1
1-27106929-GGCAGCTCGTGCCATT-G c.6545_6559del p.A2182_A2186del InFrameDeletion 20/20 - 1
1-27106934-C-A c.6545C>A p.A2182D Missense 20/20 - 1
1-27106934-C-T c.6545C>T p.A2182V Missense 20/20 - 4
1-27106935-T-C c.6546T>C p.A2182= Synonymous 20/20 - 2
1-27106936-C-T c.6547C>T p.R2183C Missense 20/20 - 5
1-27106937-G-A c.6548G>A p.R2183H Missense 20/20 - 3
1-27106938-T-G c.6549T>G p.R2183= Synonymous 20/20 - 2
1-27106940-C-A c.6551C>A p.A2184D Missense 20/20 - 1
1-27106940-C-T c.6551C>T p.A2184V Missense 20/20 - 4
1-27106941-C-A c.6552C>A p.A2184= Synonymous 20/20 - 1
1-27106941-C-G c.6552C>G p.A2184= Synonymous 20/20 - 1
1-27106941-C-T c.6552C>T p.A2184= Synonymous 20/20 - 1
1-27106943-T-C c.6554T>C p.I2185T Missense 20/20 - 2
1-27106942-A-AT c.6555dup p.A2186Cfs*39 Frameshift 20/20 - 1
1-27106945-TGC-T c.6556_6557del p.A2186Sfs*38 Frameshift 20/20 - 1
1-27106948-G-A c.6559G>A p.V2187M Missense 20/20 - 1
1-27106949-GT-G c.6560del p.V2187Gfs*13 Frameshift 20/20 - 2
1-27106951-C-T c.6562C>T p.Q2188* Nonsense 20/20 - 2
1-27106953-G-C c.6564G>C p.Q2188H Missense 20/20 - 5
1-27106953-G-T c.6564G>T p.Q2188H Missense 20/20 - 6
1-27106954-A-T c.6565A>T p.K2189* Nonsense 20/20 - 2
1-27106956-G-T c.6567G>T p.K2189N Missense 20/20 - 1
1-27106957-G-A c.6568G>A p.G2190S Missense 20/20 - 1
1-27106957-G-T c.6568G>T p.G2190C Missense 20/20 - 1
1-27106958-G-T c.6569G>T p.G2190V Missense 20/20 - 1
1-27106956-GGGCAGTATC-G c.6572_6580del p.S2191_G2193del InFrameDeletion 20/20 - 1
1-27106961-G-A c.6572G>A p.S2191N Missense 20/20 - 1
1-27106961-G-T c.6572G>T p.S2191I Missense 20/20 - 4
1-27106960-A-C c.6571A>C p.S2191R Missense 20/20 - 1
1-27106962-T-A c.6573T>A p.S2191R Missense 20/20 - 1
1-27106962-T-C c.6573T>C p.S2191= Synonymous 20/20 - 1
1-27106962-T-G c.6573T>G p.S2191R Missense 20/20 - 1
1-27106965-C-A c.6576C>A p.I2192= Synonymous 20/20 - 1
1-27106965-C-T c.6576C>T p.I2192= Synonymous 20/20 - 1
1-27106966-G-A c.6577G>A p.G2193S Missense 20/20 - 4
1-27106970-A-T c.6581A>T p.N2194I Missense 20/20 - 1
1-27106971-C-T c.6582C>T p.N2194= Synonymous 20/20 - 4
1-27106970-A-AC c.6583dup p.L2195Pfs*30 Frameshift 20/20 - 1
1-27106972-C-T c.6583C>T p.L2195F Missense 20/20 - 1
1-27106973-T-C c.6584T>C p.L2195P Missense 20/20 - 4
1-27106973-T-G c.6584T>G p.L2195R Missense 20/20 - 1
1-27106975-C-T c.6586C>T p.L2196= Synonymous 20/20 - 5
1-27106976-T-C c.6587T>C p.L2196P Missense 20/20 - 1
1-27106977-G-A c.6588G>A p.L2196= Synonymous 20/20 - 1
1-27106977-G-C c.6588G>C p.L2196= Synonymous 20/20 - 1
1-27106977-G-T c.6588G>T p.L2196= Synonymous 20/20 - 1
1-27106978-GGGCTTCCT-G c.6589_6596del p.G2197Rfs*25 Frameshift 20/20 - 1
1-27106980-C-T c.6591C>T p.G2197= Synonymous 20/20 - 2
1-27106981-T-A c.6592T>A p.F2198I Missense 20/20 - 1
1-27106982-T-C c.6593T>C p.F2198S Missense 20/20 - 5
1-27106982-TC-T c.6595del p.L2199* Frameshift 20/20 - 1
1-27106984-C-A c.6595C>A p.L2199I Missense 20/20 - 1
1-27106984-CT-TA c.6595_6596delinsTA p.L2199* Nonsense 20/20 - 1
1-27106986-A-G c.6597A>G p.L2199= Synonymous 20/20 - 2
1-27106986-TA-T c.6597del p.E2200Rfs*31 Frameshift 20/20 - 1
1-27106987-G-A c.6598G>A p.E2200K Missense 20/20 - 3
1-27106988-A-AG c.6601dup p.D2201Gfs*24 Frameshift 20/20 - 1
1-27106990-G-C c.6601G>C p.D2201H Missense 20/20 - 1
1-27106993-A-G c.6604A>G p.S2202G Missense 20/20 - 1
1-27106999-G-T c.6610G>T p.A2204S Missense 20/20 - 3
1-27106999-TG-T c.6610del p.A2204Pfs*27 Frameshift 20/20 - 2
1-27106998-TGCCGCCACACA-T c.6611_6621del p.A2204Vfs*17 Frameshift 20/20 - 1
1-27106999-G-GCTC c.6611_6612insTCC p.A2204_A2205insP InFrameInsertion 20/20 - 1
1-27107000-C-T c.6611C>T p.A2204V Missense 20/20 - 3
1-27107001-C-A c.6612C>A p.A2204= Synonymous 20/20 - 3
1-27107001-C-G c.6612C>G p.A2204= Synonymous 20/20 - 5
1-27107001-C-T c.6612C>T p.A2204= Synonymous 20/20 - 5
1-27107002-G-A c.6613G>A p.A2205T Missense 20/20 - 4
1-27107003-C-A c.6614C>A p.A2205D Missense 20/20 - 1
1-27107006-C-T c.6617C>T p.T2206I Missense 20/20 - 1
1-27107008-C-T c.6619C>T p.Q2207* Nonsense 20/20 - 9
1-27107009-A-G c.6620A>G p.Q2207R Missense 20/20 - 2
1-27107009-A-T c.6620A>T p.Q2207L Missense 20/20 - 1
1-27107012-T-G c.6623T>G p.F2208C Missense 20/20 - 1
1-27107013-C-G c.6624C>G p.F2208L Missense 20/20 - 1
1-27107012-TC-T c.6625del p.Q2209Sfs*22 Frameshift 20/20 - 4
1-27107014-C-A c.6625C>A p.Q2209K Missense 20/20 - 1
1-27107014-C-T c.6625C>T p.Q2209* Nonsense 20/20 - 8
1-27107017-C-T c.6628C>T p.Q2210* Nonsense 20/20 - 1
1-27107019-G-C c.6630G>C p.Q2210H Missense 20/20 - 2
1-27107019-G-T c.6630G>T p.Q2210H Missense 20/20 - 2
1-27107020-A-G c.6631A>G p.S2211G Missense 20/20 - 1
1-27107021-G-A c.6632G>A p.S2211N Missense 20/20 - 1
1-27107019-GAGCC-G c.6633_6636del p.S2211Rfs*19 Frameshift 20/20 - 1
1-27107021-GC-G c.6634del p.Q2212Rfs*19 Frameshift 20/20 - 2
1-27107023-C-G c.6634C>G p.Q2212E Missense 20/20 - 1
1-27107023-C-T c.6634C>T p.Q2212* Nonsense 20/20 - 4
1-27107025-G-A c.6636G>A p.Q2212= Synonymous 20/20 - 1
1-27107025-G-T c.6636G>T p.Q2212H Missense 20/20 - 1
1-27107027-C-T c.6638C>T p.A2213V Missense 20/20 - 4
1-27107028-C-A c.6639C>A p.A2213= Synonymous 20/20 - 1
1-27107028-C-G c.6639C>G p.A2213= Synonymous 20/20 - 1
1-27107029-AG-CT c.6640_6641inv p.S2214L Missense 20/20 - 1
1-27107029-A-T c.6640A>T p.S2214C Missense 20/20 - 3
1-27107029-A-C c.6640A>C p.S2214R Missense 20/20 - 1
1-27107031-C-A c.6642C>A p.S2214R Missense 20/20 - 2
1-27107031-C-G c.6642C>G p.S2214R Missense 20/20 - 1
1-27107032-C-T c.6643C>T p.L2215F Missense 20/20 - 1
1-27107033-T-C c.6644T>C p.L2215P Missense 20/20 - 1
1-27107033-T-G c.6644T>G p.L2215R Missense 20/20 - 1
1-27107034-C-A c.6645C>A p.L2215= Synonymous 20/20 - 2
1-27107034-C-G c.6645C>G p.L2215= Synonymous 20/20 - 1
1-27107034-C-T c.6645C>T p.L2215= Synonymous 20/20 - 1
1-27107035-C-T c.6646C>T p.L2216F Missense 20/20 - 2
1-27107034-CCTCCA-C c.6647_6651del p.L2216Hfs*7 Frameshift 20/20 - 1
1-27107036-T-A c.6647T>A p.L2216H Missense 20/20 - 1
1-27107037-C-G c.6648C>G p.L2216= Synonymous 20/20 - 1
1-27107038-C-T c.6649C>T p.H2217Y Missense 20/20 - 1
1-27107039-A-G c.6650A>G p.H2217R Missense 20/20 - 1
1-27107040-C-T c.6651C>T p.H2217= Synonymous 20/20 - 1
1-27107041-A-G c.6652A>G p.M2218V Missense 20/20 - 2
1-27107041-A-T c.6652A>T p.M2218L Missense 20/20 - 2
1-27107041-A-AT c.6653dup p.M2218Ifs*7 Frameshift 20/20 - 1
1-27107042-T-C c.6653T>C p.M2218T Missense 20/20 - 1
1-27107043-G-A c.6654G>A p.M2218I Missense 20/20 - 1
1-27107043-G-C c.6654G>C p.M2218I Missense 20/20 - 1
1-27107043-TG-T c.6654del p.M2218Ifs*13 Frameshift 20/20 - 1
1-27107044-C-T c.6655C>T p.Q2219* Nonsense 20/20 - 4
1-27107046-G-T c.6657G>T p.Q2219H Missense 20/20 - 2
1-27107048-A-G c.6659A>G p.N2220S Missense 20/20 - 11
1-27107048-A-T c.6659A>T p.N2220I Missense 20/20 - 1
1-27107049-C-A c.6660C>A p.N2220K Missense 20/20 - 1
1-27107049-C-G c.6660C>G p.N2220K Missense 20/20 - 2
1-27107049-C-T c.6660C>T p.N2220= Synonymous 20/20 - 1
1-27107050-C-A c.6661C>A p.P2221T Missense 20/20 - 3
1-27107050-C-T c.6661C>T p.P2221S Missense 20/20 - 2
1-27107052-A-C c.6663A>C p.P2221= Synonymous 20/20 - 1
1-27107052-A-G c.6663A>G p.P2221= Synonymous 20/20 - 1
1-27107052-A-T c.6663A>T p.P2221= Synonymous 20/20 - 1
1-27107053-C-G c.6664C>G p.P2222A Missense 20/20 - 2
1-27107053-C-T c.6664C>T p.P2222S Missense 20/20 - 1
1-27107055-C-A c.6666C>A p.P2222= Synonymous 20/20 - 1
1-27107055-C-G c.6666C>G p.P2222= Synonymous 20/20 - 1
1-27107055-C-T c.6666C>T p.P2222= Synonymous 20/20 - 1
1-27107056-T-A c.6667T>A p.F2223I Missense 20/20 - 2
1-27107056-T-G c.6667T>G p.F2223V Missense 20/20 - 2
1-27107058-T-G c.6669T>G p.F2223L Missense 20/20 - 2
1-27107059-G-A c.6670G>A p.E2224K Missense 20/20 - 1
1-27107059-G-C c.6670G>C p.E2224Q Missense 20/20 - 6
1-27107062-C-T c.6673C>T p.P2225S Missense 20/20 - 4
1-27107063-C-G c.6674C>G p.P2225R Missense 20/20 - 1
1-27107065-A-G c.6676A>G p.T2226A Missense 20/20 - 1
1-27107068-A-G c.6679A>G p.S2227G Missense 20/20 - 1
1-27107071-G-A c.6682G>A p.V2228M Missense 20/20 - 2
1-27107071-G-C c.6682G>C p.V2228L Missense 20/20 - 1
1-27107071-G-T c.6682G>T p.V2228L Missense 20/20 - 2
1-27107072-T-C c.6683T>C p.V2228A Missense 20/20 - 2
1-27107073-G-A c.6684G>A p.V2228= Synonymous 20/20 - 1
1-27107074-G-A c.6685G>A p.D2229N Missense 20/20 - 1
1-27107074-G-T c.6685G>T p.D2229Y Missense 20/20 - 1
1-27107076-C-A c.6687C>A p.D2229E Missense 20/20 - 2
1-27107076-C-G c.6687C>G p.D2229E Missense 20/20 - 1
1-27107078-T-C c.6689T>C p.M2230T Missense 20/20 - 1
1-27107081-T-C c.6692T>C p.M2231T Missense 20/20 - 2
1-27107082-G-A c.6693G>A p.M2231I Missense 20/20 - 2
1-27107082-G-C c.6693G>C p.M2231I Missense 20/20 - 2
1-27107082-G-T c.6693G>T p.M2231I Missense 20/20 - 2
1-27107083-C-G c.6694C>G p.R2232G Missense 20/20 - 1
1-27107083-C-T c.6694C>T p.R2232W Missense 20/20 - 10
1-27107084-CGGCGGGCTGCCCG-C c.6695_6707del p.R2232Pfs*31 Frameshift 20/20 - 1
1-27107084-G-A c.6695G>A p.R2232Q Missense 20/20 - 2
1-27107083-CG-C c.6696del p.R2233Gfs*34 Frameshift 20/20 - 1
1-27107086-C-A c.6697C>A p.R2233= Synonymous 20/20 - 1
1-27107086-CGG-ATC c.6697_6699delinsATC p.R2233I Missense 20/20 - 1
1-27107086-C-T c.6697C>T p.R2233W Missense 20/20 - 3
1-27107088-G-A c.6699G>A p.R2233= Synonymous 20/20 - 1
1-27107088-G-C c.6699G>C p.R2233= Synonymous 20/20 - 1
1-27107088-G-T c.6699G>T p.R2233= Synonymous 20/20 - 1
1-27107084-GGCGGGCTGCCCGCGCGCT-G c.6698_6715del p.R2233_L2238del InFrameDeletion 20/20 - 2
1-27107087-G-A c.6698G>A p.R2233Q Missense 20/20 - 2
1-27107084-GGCGGGCTGCCC-G c.6699_6709del p.R2236Cfs*38 Frameshift 20/20 - 1
1-27107084-GGCGGGCTGCCCGC-G c.6699_6711del p.A2234Cfs*29 Frameshift 20/20 - 1
1-27107089-GC-CT c.6700_6701delinsCT p.A2234L Missense 20/20 - 1
1-27107090-C-G c.6701C>G p.A2234G Missense 20/20 - 1
1-27107090-C-T c.6701C>T p.A2234V Missense 20/20 - 1
1-27107090-GCT-G c.6701_6702del p.A2234Gfs*43 Frameshift 20/20 - 2
1-27107090-GCTGCCCGC-G c.6701_6708del p.A2234Gfs*41 Frameshift 20/20 - 1
1-27107088-GGCTGCCCGC-G c.6702_6710del p.A2235_A2237del InFrameDeletion 20/20 - 1
1-27107089-GCTGCC-G c.6702_6706del p.A2235Rfs*41 Frameshift 20/20 - 1
1-27107091-CT-C c.6702del p.A2235Pfs*32 Frameshift 20/20 - 1
1-27107092-G-A c.6703G>A p.A2235T Missense 20/20 - 1
1-27107092-G-C c.6703G>C p.A2235P Missense 20/20 - 3
1-27107092-TGCCCGCGCG-T c.6703_6711del p.A2235_A2237del InFrameDeletion 20/20 - 1
1-27107092-TGCCCG-T c.6703_6707del p.A2235Rfs*41 Frameshift 20/20 - 1
1-27107092-TGC-T c.6703_6704del p.A2235Pfs*42 Frameshift 20/20 - 1
1-27107093-C-G c.6704C>G p.A2235G Missense 20/20 - 1
1-27107088-GGCTGCCCGCGC-G c.6705_6715del p.R2236Cfs*38 Frameshift 20/20 - 1
1-27107091-TGCCC-T c.6705_6708del p.A2237Cfs*29 Frameshift 20/20 - 1
1-27107094-C-CG c.6705_6706insG p.R2236Afs*42 Frameshift 20/20 - 1
1-27107092-GC-G c.6706del p.R2236Afs*31 Frameshift 20/20 - 1
1-27107092-G-GC c.6706dup p.R2236Pfs*42 Frameshift 20/20 - 1
1-27107095-C-A c.6706C>A p.R2236S Missense 20/20 - 1
1-27107095-C-G c.6706C>G p.R2236G Missense 20/20 - 1
1-27107095-C-T c.6706C>T p.R2236C Missense 20/20 - 13
1-27107095-C-CG c.6707dup p.A2237Rfs*41 Frameshift 20/20 - 1
1-27107096-G-A c.6707G>A p.R2236H Missense 20/20 - 3
1-27107096-G-C c.6707G>C p.R2236P Missense 20/20 - 6
1-27107096-GC-AA c.6707_6708delinsAA p.R2236Q Missense 20/20 - 1
1-27107097-C-A c.6708C>A p.R2236= Synonymous 20/20 - 1
1-27107097-C-G c.6708C>G p.R2236= Synonymous 20/20 - 1
1-27107097-C-T c.6708C>T p.R2236= Synonymous 20/20 - 3
1-27107097-C-CGGGAG c.6709_6710insGGAGG p.A2237Gfs*32 Frameshift 20/20 - 1
1-27107098-G-A c.6709G>A p.A2237T Missense 20/20 - 6
1-27107098-G-C c.6709G>C p.A2237P Missense 20/20 - 3
1-27107099-C-CT c.6710_6711insT p.L2238Afs*40 Frameshift 20/20 - 1
1-27107099-C-T c.6710C>T p.A2237V Missense 20/20 - 5
1-27107099-GC-G c.6710del p.A2237Gfs*30 Frameshift 20/20 - 3
1-27107097-CGCGCTGCTT-C c.6711_6719del p.L2239_L2241del InFrameDeletion 20/20 - 1
1-27107100-G-A c.6711G>A p.A2237= Synonymous 20/20 - 1
1-27107100-G-C c.6711G>C p.A2237= Synonymous 20/20 - 1
1-27107100-G-T c.6711G>T p.A2237= Synonymous 20/20 - 1
1-27107101-GCT-G c.6712_6713del p.L2238Afs*39 Frameshift 20/20 - 1
1-27107104-C-G c.6715C>G p.L2239V Missense 20/20 - 1
1-27107104-C-T c.6715C>T p.L2239F Missense 20/20 - 2
1-27107101-CTGCT-C c.6716_6719del p.L2239Pfs*27 Frameshift 20/20 - 1
1-27107105-T-C c.6716T>C p.L2239P Missense 20/20 - 11
1-27107106-T-TG c.6718dup p.A2240Gfs*38 Frameshift 20/20 - 1
1-27107107-G-C c.6718G>C p.A2240P Missense 20/20 - 1
1-27107107-G-GA c.6718_6719insA p.A2240Dfs*38 Frameshift 20/20 - 1
1-27107108-C-T c.6719C>T p.A2240V Missense 20/20 - 3
1-27107107-G-GC c.6720dup p.A2242Gfs*36 Frameshift 20/20 - 2
1-27107109-C-A c.6720C>A p.A2240= Synonymous 20/20 - 1
1-27107109-C-G c.6720C>G p.A2240= Synonymous 20/20 - 1
1-27107109-C-T c.6720C>T p.A2240= Synonymous 20/20 - 1
1-27107110-T-C c.6721T>C p.L2241= Synonymous 20/20 - 1
1-27107111-T-A c.6722T>A p.L2241* Nonsense 20/20 - 1
1-27107114-C-A c.6725C>A p.A2242D Missense 20/20 - 1
1-27107114-C-T c.6725C>T p.A2242V Missense 20/20 - 2
1-27107117-A-C c.6728A>C p.K2243T Missense 20/20 - 1
1-27107117-A-G c.6728A>G p.K2243R Missense 20/20 - 1
1-27107118-G-C c.6729G>C p.K2243N Missense 20/20 - 1
1-27107117-A-AG c.6730dup p.V2244Gfs*34 Frameshift 20/20 - 3
1-27107119-G-T c.6730G>T p.V2244L Missense 20/20 - 3
1-27107120-GT-G c.6731del p.V2244Gfs*23 Frameshift 20/20 - 1
1-27107120-T-G c.6731T>G p.V2244G Missense 20/20 - 2
1-27107124-C-G c.6735C>G p.D2245E Missense 20/20 - 1
1-27107124-C-T c.6735C>T p.D2245= Synonymous 20/20 - 2
1-27107125-G-A c.6736G>A p.E2246K Missense 20/20 - 4
1-27107125-G-T c.6736G>T p.E2246* Nonsense 20/20 - 2
1-27107127-G-A c.6738G>A p.E2246= Synonymous 20/20 - 1
1-27107132-A-T c.6743A>T p.H2248L Missense 20/20 - 1
1-27107135-C-A c.6746C>A p.S2249* Nonsense 20/20 - 3
1-27107135-C-CT c.6746_6747insT p.E2250Rfs*28 Frameshift 20/20 - 1
1-27107135-C-G c.6746C>G p.S2249* Nonsense 20/20 - 3
1-27107135-C-T c.6746C>T p.S2249L Missense 20/20 - 1
1-27107135-C-CA c.6747dup p.E2250Rfs*28 Frameshift 20/20 - 7
1-27107136-A-AT c.6747_6748insT p.E2250* Nonsense 20/20 - 5
1-27107137-AG-A c.6748del p.E2250Sfs*17 Frameshift 20/20 - 2
1-27107137-G-C c.6748G>C p.E2250Q Missense 20/20 - 1
1-27107137-G-T c.6748G>T p.E2250* Nonsense 20/20 - 3
1-27107135-CAG-C c.6749_6750del p.E2250Vfs*27 Frameshift 20/20 - 4
1-27107140-T-A c.6751T>A p.F2251I Missense 20/20 - 1
1-27107142-T-C c.6753T>C p.F2251= Synonymous 20/20 - 1
1-27107143-ACT-A c.6757_6758del p.L2253Vfs*24 Frameshift 20/20 - 1
1-27107146-TC-T c.6757del p.L2253Cfs*14 Frameshift 20/20 - 1
1-27107146-CTG-C c.6759_6760del p.Y2254Rfs*23 Frameshift 20/20 - 1
1-27107149-GTA-G c.6760_6761del p.Y2254Rfs*23 Frameshift 20/20 - 1
1-27107151-C-A c.6762C>A p.Y2254* Nonsense 20/20 - 11
1-27107151-C-CT c.6762_6763insT p.E2255* Nonsense 20/20 - 1
1-27107151-C-G c.6762C>G p.Y2254* Nonsense 20/20 - 17
1-27107151-C-T c.6762C>T p.Y2254= Synonymous 20/20 - 5
1-27107152-G-A c.6763G>A p.E2255K Missense 20/20 - 8
1-27107152-G-T c.6763G>T p.E2255* Nonsense 20/20 - 8
1-27107149-TACGAATC-T c.6764_6770del p.E2255Gfs*10 Frameshift 20/20 - 1
1-27107153-A-C c.6764A>C p.E2255A Missense 20/20 - 1
1-27107154-A-G c.6765A>G p.E2255= Synonymous 20/20 - 1
1-27107154-A-T c.6765A>T p.E2255D Missense 20/20 - 2
1-27107156-C-A c.6767C>A p.S2256* Nonsense 20/20 - 8
1-27107156-C-G c.6767C>G p.S2256* Nonsense 20/20 - 3
1-27107156-C-T c.6767C>T p.S2256L Missense 20/20 - 1
1-27107158-C-T c.6769C>T p.R2257W Missense 20/20 - 2
1-27107159-G-A c.6770G>A p.R2257Q Missense 20/20 - 2
1-27107157-ACGGCTGTTGGACATCT-A c.6772_6787del p.L2258Yfs*4 Frameshift 20/20 - 1
1-27107162-T-G c.6773T>G p.L2258R Missense 20/20 - 9
1-27107162-T-TG c.6774dup p.L2259Vfs*19 Frameshift 20/20 - 1
1-27107164-T-G c.6775T>G p.L2259V Missense 20/20 - 1
1-27107165-T-G c.6776T>G p.L2259W Missense 20/20 - 1
1-27107169-C-G c.6780C>G p.D2260E Missense 20/20 - 1
1-27107170-A-G c.6781A>G p.I2261V Missense 20/20 - 1
1-27107171-T-C c.6782T>C p.I2261T Missense 20/20 - 1
1-27107172-C-G c.6783C>G p.I2261M Missense 20/20 - 1
1-27107172-TC-T c.6783del p.S2262Rfs*5 Frameshift 20/20 - 2
1-27107173-T-G c.6784T>G p.S2262A Missense 20/20 - 1
1-27107174-C-T c.6785C>T p.S2262L Missense 20/20 - 6
1-27107175-G-A c.6786G>A p.S2262= Synonymous 20/20 - 1
1-27107175-G-C c.6786G>C p.S2262= Synonymous 20/20 - 1
1-27107176-G-A c.6787G>A p.V2263I Missense 20/20 - 1
1-27107176-G-GA c.6787_6788insA p.V2263Dfs*15 Frameshift 20/20 - 1
1-27107176-G-T c.6787G>T p.V2263L Missense 20/20 - 1
1-27107176-G-GT c.6788dup p.S2264Ifs*14 Frameshift 20/20 - 1
1-27107177-T-C c.6788T>C p.V2263A Missense 20/20 - 1
1-27107178-A-C c.6789A>C p.V2263= Synonymous 20/20 - 1
1-27107178-A-G c.6789A>G p.V2263= Synonymous 20/20 - 3
1-27107178-A-T c.6789A>T p.V2263= Synonymous 20/20 - 1
1-27107179-T-C c.6790T>C p.S2264P Missense 20/20 - 1
1-27107180-C-A c.6791C>A p.S2264* Nonsense 20/20 - 12
1-27107180-C-G c.6791C>G p.S2264* Nonsense 20/20 - 13
1-27107180-C-T c.6791C>T p.S2264L Missense 20/20 - 8
1-27107180-TC-T c.6791del p.S2264Yfs*3 Frameshift 20/20 - 1
1-27107182-C-A c.6793C>A p.P2265T Missense 20/20 - 1
1-27107182-C-T c.6793C>T p.P2265S Missense 20/20 - 1
1-27107183-C-A c.6794C>A p.P2265Q Missense 20/20 - 4
1-27107183-CCGTT-C c.6794_6797del p.P2265Rfs*2 Frameshift 20/20 - 1
1-27107183-C-G c.6794C>G p.P2265R Missense 20/20 - 1
1-27107183-C-T c.6794C>T p.P2265L Missense 20/20 - 3
1-27107183-C-CG c.6795dup p.L2266Vfs*12 Frameshift 20/20 - 1
1-27107186-T-C c.6797T>C p.L2266S Missense 20/20 - 2
1-27107185-TTGA-T c.6800_6802del p.M2267del InFrameDeletion 20/20 - 1
1-27107190-G-A c.6801G>A p.M2267I Missense 20/20 - 1
1-27107190-G-C c.6801G>C p.M2267I Missense 20/20 - 1
1-27107190-G-T c.6801G>T p.M2267I Missense 20/20 - 2
1-27107190-TG-T c.6801del p.M2267Ifs*15 Frameshift 20/20 - 1
1-27107191-A-T c.6802A>T p.N2268Y Missense 20/20 - 1
1-27107193-C-G c.6804C>G p.N2268K Missense 20/20 - 1
1-27107193-C-T c.6804C>T p.N2268= Synonymous 20/20 - 2
1-27107194-T-C c.6805T>C p.S2269P Missense 20/20 - 1
1-27107195-C-A c.6806C>A p.S2269* Nonsense 20/20 - 13
1-27107195-C-G c.6806C>G p.S2269* Nonsense 20/20 - 14
1-27107195-C-T c.6806C>T p.S2269L Missense 20/20 - 5
1-27107196-CATTG-C c.6807_6810del p.L2270Ffs*11 Frameshift 20/20 - 1
1-27107197-T-C c.6808T>C p.L2270= Synonymous 20/20 - 1
1-27107199-G-A c.6810G>A p.L2270= Synonymous 20/20 - 1
1-27107198-T-C c.6809T>C p.L2270S Missense 20/20 - 2
1-27107200-G-A c.6811G>A p.V2271I Missense 20/20 - 2
1-27107204-C-A c.6815C>A p.S2272* Nonsense 20/20 - 3
1-27107204-C-G c.6815C>G p.S2272* Nonsense 20/20 - 1
1-27107204-C-T c.6815C>T p.S2272L Missense 20/20 - 1
1-27107205-A-G c.6816A>G p.S2272= Synonymous 20/20 - 1
1-27107206-C-T c.6817C>T p.Q2273* Nonsense 20/20 - 1
1-27107208-A-C c.6819A>C p.Q2273H Missense 20/20 - 1
1-27107208-A-T c.6819A>T p.Q2273H Missense 20/20 - 1
1-27107209-G-T c.6820G>T p.V2274F Missense 20/20 - 1
1-27107213-T-C c.6824T>C p.I2275T Missense 20/20 - 8
1-27107213-T-G c.6824T>G p.I2275S Missense 20/20 - 1
1-27107215-TG-AC c.6826_6827delinsAC p.C2276T Missense 20/20 - 1
1-27107214-TTG-T c.6828_6829del p.C2276* Frameshift 20/20 - 1
1-27107218-G-A c.6829G>A p.D2277N Missense 20/20 - 1
1-27107218-G-T c.6829G>T p.D2277Y Missense 20/20 - 1
1-27107218-TGATGTACTGTTTTTG-T c.6829_6843del p.D2277_L2281del InFrameDeletion 20/20 - 1
1-27107219-A-T c.6830A>T p.D2277V Missense 20/20 - 1
1-27107221-G-A c.6832G>A p.V2278I Missense 20/20 - 2
1-27107221-TG-T c.6832del p.V2278Yfs*4 Frameshift 20/20 - 1
1-27107221-TGTACTGTTTTTGATTGGC-T c.6832_6849del p.V2278_G2283del InFrameDeletion 20/20 - 1
1-27107222-T-A c.6833T>A p.V2278E Missense 20/20 - 1
1-27107225-T-C c.6836T>C p.L2279P Missense 20/20 - 1
1-27107225-T-TG c.6837dup p.F2280Vfs*105 Frameshift 20/20 - 1
1-27107226-G-GT c.6842dup p.L2281Ffs*104 Frameshift 20/20 - 2
1-27107226-GT-G c.6842del p.L2281* Frameshift 20/20 - 1
1-27107232-G-C c.6843G>C p.L2281F Missense 20/20 - 1
1-27107232-G-T c.6843G>T p.L2281F Missense 20/20 - 3
1-27107233-A-T c.6844A>T p.I2282F Missense 20/20 - 1
1-27107233-GA-G c.6844del p.I2282Lfs*25 Frameshift 20/20 - 1
1-27107234-T-A c.6845T>A p.I2282N Missense 20/20 - 1
1-27107234-T-C c.6845T>C p.I2282T Missense 20/20 - 3
1-27107236-G-A c.6847G>A p.G2283S Missense 20/20 - 1
1-27107236-G-T c.6847G>T p.G2283C Missense 20/20 - 1
1-27107237-G-A c.6848G>A p.G2283D Missense 20/20 - 2
1-27107238-C-A c.6849C>A p.G2283= Synonymous 20/20 - 1
1-27107238-C-G c.6849C>G p.G2283= Synonymous 20/20 - 1
1-27107238-C-T c.6849C>T p.G2283= Synonymous 20/20 - 1
1-27107239-C-A c.6850C>A p.Q2284K Missense 20/20 - 1
1-27107239-C-T c.6850C>T p.Q2284* Nonsense 20/20 - 1
1-27107240-A-G c.6851A>G p.Q2284R Missense 20/20 - 1
1-27107240-A-T c.6851A>T p.Q2284L Missense 20/20 - 1
1-27107240-CAG-C c.6851_6852del p.Q2284Lfs*100 Frameshift 20/20 - 1
1-27107241-G-T c.6852G>T p.Q2284H Missense 20/20 - 2
1-27107243-C-T c.6854C>T p.S2285L Missense 20/20 - 2
1-27107245-T-C c.6856T>C p.*2286Rext*18 Missense 20/20 - 1
1-27107268-C-A c.*21C>A - 3-UTRSNV 20/20 - 1
1-27107268-C-G c.*21C>G - 3-UTRSNV 20/20 - 1
1-27107268-C-T c.*21C>T - 3-UTRSNV 20/20 - 1
1-27107284-C-G c.*37C>G - 3-UTRSNV 20/20 - 1
1-27107284-C-T c.*37C>T - 3-UTRSNV 20/20 - 1
1-27108139-A-T c.*892A>T - 3-UTRSNV 20/20 - 1
1-27108245-T-C c.*998T>C - 3-UTRSNV 20/20 - 3