ARID1A AT-rich interaction domain 1A

Annotation transcript: NM_006015.6

1988 unique variant annotations were identified in 791 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-27022906-G-A c.12G>A p.Q4= Synonymous 1/20 - 1
1-27022922-GC-TG c.28_29delinsTG p.A10C Missense 1/20 - 1
1-27022925-AG-GA c.31_32delinsGA p.S11D Missense 1/20 - 6
1-27022925-AG-GC c.31_32delinsGC p.S11A Missense 1/20 - 11
1-27022925-AGC-GAG c.31_33delinsGAG p.S11E Missense 1/20 - 4
1-27022925-A-T c.31A>T p.S11C Missense 1/20 - 6
1-27022925-AG-TT c.31_32delinsTT p.S11F Missense 1/20 - 1
1-27022912-CCCCGCCGCCGCCAGCAGCCTGGGCAA-C c.31_56del p.S11Afs*91 Frameshift 1/20 - 4
1-27022925-A-G c.31A>G p.S11G Missense 1/20 - 3
1-27022925-AG-CA c.31_32delinsCA p.S11H Missense 1/20 - 1
1-27022928-AG-GC c.34_35delinsGC p.S12A Missense 1/20 - 15
1-27022928-A-T c.34A>T p.S12C Missense 1/20 - 7
1-27022928-AG-GA c.34_35delinsGA p.S12D Missense 1/20 - 2
1-27022928-AGC-GAG c.34_36delinsGAG p.S12E Missense 1/20 - 3
1-27022929-G-A c.35G>A p.S12N Missense 1/20 - 1
1-27022940-C-A c.46C>A p.P16T Missense 1/20 - 1
1-27022943-C-T c.49C>T p.P17S Missense 1/20 - 1
1-27022946-C-A c.52C>A p.P18T Missense 1/20 - 1
1-27022952-CCG-GAC c.58_60delinsGAC p.P20D Missense 1/20 - 1
1-27022939-CCCG-C c.60_62del p.P21del InFrameDeletion 1/20 - 2
1-27022955-GCCC-G c.61_63del p.P21del InFrameDeletion 1/20 - 1
1-27022958-T-G c.64T>G p.S22A Missense 1/20 - 1
1-27022959-CG-GT c.65_66delinsGT p.S22C Missense 1/20 - 1
1-27022969-G-A c.75G>A p.K25= Synonymous 1/20 - 1
1-27022971-A-T c.77A>T p.K26I Missense 1/20 - 1
1-27022973-GC-TT c.79_80delinsTT p.A27F Missense 1/20 - 1
1-27022973-GC-CG c.79_80delinsCG p.A27R Missense 1/20 - 1
1-27022974-CC-AG c.80_81delinsAG p.A27E Missense 1/20 - 1
1-27022975-C-CT c.81_82insT p.E28* Nonsense 1/20 - 1
1-27022976-G-A c.82G>A p.E28K Missense 1/20 - 1
1-27022984-G-A c.90G>A p.Q30= Synonymous 1/20 - 1
1-27022986-A-G c.92A>G p.Q31R Missense 1/20 - 1
1-27022988-GCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAA-G c.94_152del p.R32Gfs*59 Frameshift 1/20 - 1
1-27022989-G-T c.95G>T p.R32L Missense 1/20 - 1
1-27022989-G-A c.95G>A p.R32Q Missense 1/20 - 1
1-27022988-CGGGAG-C c.96_100del p.E33Gfs*76 Frameshift 1/20 - 1
1-27022995-GA-G c.101del p.E34Gfs*17 Frameshift 1/20 - 1
1-27023000-G-T c.106G>T p.G36W Missense 1/20 - 1
1-27023003-GG-AC c.109_110delinsAC p.G37T Missense 1/20 - 1
1-27022998-CG-C c.110del p.G37Afs*14 Frameshift 1/20 - 2
1-27023005-C-CA c.111_112insA p.E38Rfs*73 Frameshift 1/20 - 1
1-27023006-G-C c.112G>C p.E38Q Missense 1/20 - 1
1-27023006-G-A c.112G>A p.E38K Missense 1/20 - 1
1-27023009-G-A c.115G>A p.A39T Missense 1/20 - 1
1-27023009-G-C c.115G>C p.A39P Missense 1/20 - 1
1-27023010-C-CTGCT c.116_117insTGCT p.A41Gfs*71 Frameshift 1/20 - 1
1-27023012-GCG-TTT c.118_120delinsTTT p.A40F Missense 1/20 - 1
1-27023015-GCG-TGT c.121_123delinsTGT p.A41C Missense 1/20 - 1
1-27023015-GCG-ATC c.121_123delinsATC p.A41I Missense 1/20 - 1
1-27023015-GCG-AAC c.121_123delinsAAC p.A41N Missense 1/20 - 1
1-27023015-GCG-TTT c.121_123delinsTTT p.A41F Missense 1/20 - 1
1-27023016-C-T c.122C>T p.A41V Missense 1/20 - 3
1-27023018-G-A c.124G>A p.A42T Missense 1/20 - 1
1-27023019-C-T c.125C>T p.A42V Missense 1/20 - 1
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-TGT c.127_129delinsTGT p.A43C Missense 1/20 - 1
1-27023022-C-A c.128C>A p.A43E Missense 1/20 - 1
1-27023024-GCG-CAT c.130_132delinsCAT p.A44H Missense 1/20 - 1
1-27023025-CG-AC c.131_132delinsAC p.A44D Missense 1/20 - 1
1-27023025-C-G c.131C>G p.A44G Missense 1/20 - 1
1-27023027-GC-AA c.133_134delinsAA p.A45N Missense 1/20 - 1
1-27023033-C-G c.139C>G p.R47G Missense 1/20 - 1
1-27023034-G-A c.140G>A p.R47H Missense 1/20 - 2
1-27023037-G-T c.143G>T p.G48V Missense 1/20 - 1
1-27023042-A-G c.148A>G p.M50V Missense 1/20 - 1
1-27023044-G-T c.150G>T p.M50I Missense 1/20 - 1
1-27023048-GCA-TTT c.154_156delinsTTT p.A52F Missense 1/20 - 1
1-27023048-GCA-TGT c.154_156delinsTGT p.A52C Missense 1/20 - 1
1-27023048-G-A c.154G>A p.A52T Missense 1/20 - 1
1-27023049-CA-AC c.155_156delinsAC p.A52D Missense 1/20 - 2
1-27023049-C-T c.155C>T p.A52V Missense 1/20 - 2
1-27023051-GC-TT c.157_158delinsTT p.A53F Missense 1/20 - 1
1-27023052-CC-AG c.158_159delinsAG p.A53E Missense 1/20 - 1
1-27023054-GC-TT c.160_161delinsTT p.A54F Missense 1/20 - 1
1-27023054-GC-AA c.160_161delinsAA p.A54N 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 - 1
1-27023054-GC-CG c.160_161delinsCG p.A54R Missense 1/20 - 1
1-27023054-G-T c.160G>T p.A54S Missense 1/20 - 1
1-27023055-C-T c.161C>T p.A54V Missense 1/20 - 1
1-27023058-G-A c.164G>A p.G55E Missense 1/20 - 1
1-27023060-C-T c.166C>T p.Q56* Nonsense 1/20 - 1
1-27023063-G-T c.169G>T p.E57* Nonsense 1/20 - 1
1-27023064-A-C c.170A>C p.E57A Missense 1/20 - 1
1-27023064-A-G c.170A>G p.E57G Missense 1/20 - 1
1-27023069-G-T c.175G>T p.E59* Nonsense 1/20 - 1
1-27023069-G-A c.175G>A p.E59K Missense 1/20 - 1
1-27023070-A-T c.176A>T p.E59V Missense 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
1-27023079-CC-AG c.185_186delinsAG p.A62E Missense 1/20 - 1
1-27023088-C-T c.194C>T p.P65L Missense 1/20 - 1
1-27023086-GC-G c.194del p.P65Rfs*36 Frameshift 1/20 - 1
1-27023089-G-T c.195G>T p.P65= Synonymous 1/20 - 1
1-27023089-G-A c.195G>A p.P65= Synonymous 1/20 - 1
1-27023089-G-C c.195G>C p.P65= Synonymous 1/20 - 1
1-27023090-C-T c.196C>T p.P66S Missense 1/20 - 1
1-27023090-C-G c.196C>G p.P66A Missense 1/20 - 1
1-27023094-A-C c.200A>C p.Q67P Missense 1/20 - 1
1-27023094-A-G c.200A>G p.Q67R Missense 1/20 - 1
1-27023100-T-G c.206T>G p.L69R Missense 1/20 - 1
1-27023102-G-T c.208G>T p.G70* Nonsense 1/20 - 2
1-27023102-GGA-AGC c.208_210delinsAGC p.G70S Missense 1/20 - 1
1-27023103-G-A c.209G>A p.G70E Missense 1/20 - 1
1-27023105-A-C c.211A>C p.K71Q Missense 1/20 - 1
1-27023107-G-C c.213G>C p.K71N Missense 1/20 - 1
1-27023107-G-T c.213G>T p.K71N Missense 1/20 - 1
1-27023118-A-C c.224A>C p.D75A Missense 1/20 - 1
1-27023123-G-C c.229G>C p.A77P Missense 1/20 - 1
1-27023126-G-A c.232G>A p.E78K Missense 1/20 - 1
1-27023133-A-C c.239A>C p.N80T Missense 1/20 - 1
1-27023135-GGG-AGC c.241_243delinsAGC p.G81S Missense 1/20 - 1
1-27023140-TGGCGGCGGCGGCGGAGCC-T c.250_267del p.G84_G89del InFrameDeletion 1/20 - 1
1-27023145-G-GC c.252dup p.G85Rfs*26 Frameshift 1/20 - 1
1-27023140-TGGC-T c.258_260del p.G87del InFrameDeletion 1/20 - 2
1-27023153-G-T c.259G>T p.G87* Nonsense 1/20 - 2
1-27023152-CGGA-C c.260_262del p.G87del InFrameDeletion 1/20 - 1
1-27023159-GGC-TGA c.265_267delinsTGA p.G89* Nonsense 1/20 - 1
1-27023162-A-G c.268A>G p.S90G Missense 1/20 - 3
1-27023166-G-C c.272G>C p.G91A Missense 1/20 - 1
1-27023172-G-C c.278G>C p.G93A Missense 1/20 - 1
1-27023174-C-T c.280C>T p.P94S Missense 1/20 - 1
1-27023168-GGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAAC-G c.283_326del p.G95* Frameshift 1/20 - 1
1-27023180-G-T c.286G>T p.A96S Missense 1/20 - 1
1-27023180-CGCGGAGCCGGA-C c.286_296del p.A96Pfs*11 Frameshift 1/20 - 1
1-27023183-G-T c.289G>T p.E97* Nonsense 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
1-27023189-GA-TT c.295_296delinsTT p.D99F Missense 1/20 - 1
1-27023199-A-G c.305A>G p.N102S Missense 1/20 - 1
1-27023201-TC-AG c.307_308delinsAG p.S103R Missense 1/20 - 1
1-27023202-CGAACGGGAACGCG-C c.310_322del p.N104Afs*6 Frameshift 1/20 - 1
1-27023205-A-G c.311A>G p.N104S Missense 1/20 - 1
1-27023211-A-C c.317A>C p.N106T Missense 1/20 - 1
1-27023211-ACGCGGGCCCTAGG-A c.319_331del p.A107Pfs*3 Frameshift 1/20 - 1
1-27023212-CGCGGGCCCTA-C c.320_329del p.A107Gfs*4 Frameshift 1/20 - 1
1-27023219-CCCTAGGCCCGCCCT-C c.325_338del p.P109Efs*3 Frameshift 1/20 - 1
1-27023226-C-A c.332C>A p.P111H Missense 1/20 - 1
1-27023237-A-C c.343A>C p.N115H Missense 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
1-27023244-T-C c.350T>C p.L117P Missense 1/20 - 1
1-27023246-A-C c.352A>C p.T118P Missense 1/20 - 6
1-27023246-CA-C c.352del p.T118Rfs*114 Frameshift 1/20 - 1
1-27023246-CACGGAGCCGCCCGGCGGCG-C c.352_370del p.T118Afs*108 Frameshift 1/20 - 1
1-27023249-G-C c.355G>C p.E119Q Missense 1/20 - 1
1-27023246-ACGGAGCCGCC-A c.356_365del p.E119Afs*110 Frameshift 1/20 - 1
1-27023253-C-G c.359C>G p.P120R Missense 1/20 - 1
1-27023259-G-A c.365G>A p.G122D Missense 1/20 - 1
1-27023267-G-C c.373G>C p.G125R Missense 1/20 - 1
1-27023270-TGGCGG-T c.376_380del p.G126Qfs*272 Frameshift 1/20 - 1
1-27023274-G-A c.380G>A p.G127D Missense 1/20 - 1
1-27023276-A-G c.382A>G p.S128G Missense 1/20 - 1
1-27023277-GCAGCGATGGGGTGGGGGCGCCTCCTCACT-G c.388_416del p.D130Rfs*260 Frameshift 1/20 - 1
1-27023284-T-G c.390T>G p.D130E Missense 1/20 - 1
1-27023292-GG-AC c.398_399delinsAC p.G133D Missense 1/20 - 1
1-27023295-C-T c.401C>T p.A134V Missense 1/20 - 1
1-27023297-C-T c.403C>T p.P135S Missense 1/20 - 1
1-27023300-C-T c.406C>T p.P136S Missense 1/20 - 1
1-27023307-C-A c.413C>A p.S138* Nonsense 1/20 - 3
1-27023307-C-G c.413C>G p.S138* Nonsense 1/20 - 4
1-27023312-G-A c.418G>A p.A140T Missense 1/20 - 1
1-27023313-C-T c.419C>T p.A140V Missense 1/20 - 1
1-27023313-CG-C c.421del p.A141Pfs*91 Frameshift 1/20 - 1
1-27023320-C-CT c.428dup p.L143Ffs*257 Frameshift 1/20 - 1
1-27023323-GCCGCCCCCAGC-G c.431_441del p.P144Lfs*252 Frameshift 1/20 - 1
1-27023323-GCCGCCCCCAGCCTACGGCTTCGGGCAAC-G c.432_459del p.P145Tfs*78 Frameshift 1/20 - 1
1-27023326-GC-G c.437del p.P146Qfs*86 Frameshift 1/20 - 1
1-27023338-C-G c.444C>G p.Y148* Nonsense 1/20 - 1
1-27023345-GGGCAACCCTACGGCCGGAGCCCGTCTGCCGTC-G c.453_484del p.Q152Rfs*237 Frameshift 1/20 - 1
1-27023348-C-T c.454C>T p.Q152* Nonsense 1/20 - 2
1-27023351-C-G c.457C>G p.P153A Missense 1/20 - 2
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
1-27023361-G-C c.467G>C p.R156P Missense 1/20 - 1
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
1-27023366-C-T c.472C>T p.P158S Missense 1/20 - 2
1-27023372-G-T c.478G>T p.A160S Missense 1/20 - 1
1-27023376-T-C c.482T>C p.V161A Missense 1/20 - 1
1-27023373-CCGT-C c.482_484del p.V161del InFrameDeletion 1/20 - 1
1-27023377-C-CAGG c.483_484insAGG p.V161_A162insR InFrameInsertion 1/20 - 1
1-27023376-TCGCCGCCGCCG-T c.485_495del p.A162Gfs*234 Frameshift 1/20 - 1
1-27023379-GCCGCCGCC-G c.485_492del p.A162Gfs*235 Frameshift 1/20 - 1
1-27023378-GCCGCCGC-G c.486_492del p.A163Rfs*67 Frameshift 1/20 - 2
1-27023382-C-T c.488C>T p.A163V Missense 1/20 - 1
1-27023376-TCGCCGC-T c.489_494del p.A166_A167del InFrameDeletion 1/20 - 1
1-27023384-G-T c.490G>T p.A164S Missense 1/20 - 1
1-27023382-CCGCCGCGG-C c.490_497del p.A164Rfs*233 Frameshift 1/20 - 1
1-27023386-C-G c.492C>G p.A164= Synonymous 1/20 - 1
1-27023391-C-T c.497C>T p.A166V Missense 1/20 - 1
1-27023397-T-C c.503T>C p.V168A Missense 1/20 - 1
1-27023400-TC-T c.508del p.H170Tfs*62 Frameshift 1/20 - 1
1-27023405-C-T c.511C>T p.Q171* Nonsense 1/20 - 1
1-27023407-A-T c.513A>T p.Q171H Missense 1/20 - 1
1-27023407-A-C c.513A>C p.Q171H Missense 1/20 - 1
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 - 2
1-27023411-C-T c.517C>T p.H173Y Missense 1/20 - 1
1-27023411-CA-GC c.517_518delinsGC p.H173A Missense 1/20 - 1
1-27023412-A-C c.518A>C p.H173P Missense 1/20 - 1
1-27023417-G-T c.523G>T p.G175* Nonsense 1/20 - 1
1-27023423-C-T c.529C>T p.Q177* Nonsense 1/20 - 1
1-27023425-A-T c.531A>T p.Q177H Missense 1/20 - 1
1-27023425-A-C c.531A>C p.Q177H Missense 1/20 - 1
1-27023423-C-CA c.532dup p.S178Kfs*222 Frameshift 1/20 - 1
1-27023431-CTGGCCTGGCA-C c.537_546del p.G180Rfs*49 Frameshift 1/20 - 1
1-27023432-G-A c.538G>A p.G180S Missense 1/20 - 1
1-27023438-G-A c.544G>A p.A182T Missense 1/20 - 1
1-27023441-G-A c.547G>A p.A183T Missense 1/20 - 1
1-27023447-C-T c.553C>T p.Q185* Nonsense 1/20 - 2
1-27023447-C-CA c.554dup p.S186Efs*214 Frameshift 1/20 - 1
1-27023453-G-A c.559G>A p.G187S Missense 1/20 - 1
1-27023454-G-C c.560G>C p.G187A Missense 1/20 - 1
1-27023455-CG-C c.563del p.G188Afs*44 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 - 4
1-27023462-G-T c.568G>T p.G190W Missense 1/20 - 1
1-27023466-G-C c.572G>C p.G191A Missense 1/20 - 1
1-27023474-C-T c.580C>T p.P194S Missense 1/20 - 1
1-27023475-C-T c.581C>T p.P194L Missense 1/20 - 2
1-27023479-C-A c.585C>A p.Y195* Nonsense 1/20 - 1
1-27023484-G-A c.590G>A p.G197E 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
1-27023489-C-T c.595C>T p.Q199* Nonsense 1/20 - 1
1-27023492-C-T c.598C>T p.Q200* Nonsense 1/20 - 1
1-27023497-C-G c.603C>G p.N201K Missense 1/20 - 1
1-27023497-C-A c.603C>A p.N201K Missense 1/20 - 1
1-27023496-ACT-A c.606_607del p.H203Rfs*196 Frameshift 1/20 - 1
1-27023501-C-G c.607C>G p.H203D Missense 1/20 - 1
1-27023503-C-CT c.609_610insT p.D204* Nonsense 1/20 - 1
1-27023508-A-G c.614A>G p.H205R Missense 1/20 - 1
1-27023510-G-T c.616G>T p.G206C Missense 1/20 - 1
1-27023510-G-A c.616G>A p.G206S Missense 1/20 - 1
1-27023520-A-G c.626A>G p.N209S Missense 1/20 - 1
1-27023525-C-T c.631C>T p.Q211* Nonsense 1/20 - 2
1-27023530-C-A c.636C>A p.Y212* Nonsense 1/20 - 1
1-27023530-C-G c.636C>G p.Y212* Nonsense 1/20 - 1
1-27023539-C-G c.645C>G p.Y215* Nonsense 1/20 - 2
1-27023540-CT-C c.646del p.Y216Tfs*16 Frameshift 1/20 - 1
1-27023542-C-A c.648C>A p.Y216* Nonsense 1/20 - 3
1-27023542-C-G c.648C>G p.Y216* Nonsense 1/20 - 3
1-27023547-A-C c.653A>C p.N218T Missense 1/20 - 1
1-27023553-AGCGCC-A c.659_663del p.S220Ifs*178 Frameshift 1/20 - 1
1-27023553-GCGC-G c.661_663del p.A221del InFrameDeletion 1/20 - 1
1-27023560-C-A c.666C>A p.Y222* Nonsense 1/20 - 2
1-27023560-C-G c.666C>G p.Y222* Nonsense 1/20 - 2
1-27023565-C-T c.671C>T p.P224L Missense 1/20 - 1
1-27023559-A-AC c.671dup p.P225Afs*175 Frameshift 1/20 - 3
1-27023559-AC-A c.671del p.P224Rfs*8 Frameshift 1/20 - 1
1-27023567-C-T c.673C>T p.P225S Missense 1/20 - 1
1-27023568-C-T c.674C>T p.P225L Missense 1/20 - 1
1-27023570-G-C c.676G>C p.A226P Missense 1/20 - 2
1-27023570-G-A c.676G>A p.A226T Missense 1/20 - 1
1-27023570-G-T c.676G>T p.A226S Missense 1/20 - 1
1-27023571-C-A c.677C>A p.A226D Missense 1/20 - 1
1-27023574-C-A c.680C>A p.P227Q Missense 1/20 - 3
1-27023574-C-T c.680C>T p.P227L Missense 1/20 - 1
1-27023572-CCCGG-C c.681_684del p.A228Tfs*3 Frameshift 1/20 - 1
1-27023577-C-T c.683C>T p.A228V Missense 1/20 - 1
1-27023580-A-G c.686A>G p.Y229C Missense 1/20 - 1
1-27023582-G-A c.688G>A p.A230T Missense 1/20 - 1
1-27023583-C-T c.689C>T p.A230V Missense 1/20 - 2
1-27023580-ACG-A c.690_691del p.L231Efs*168 Frameshift 1/20 - 1
1-27023597-A-T c.703A>T p.R235* Nonsense 1/20 - 1
1-27023595-CGA-C c.705_706del p.G236Wfs*163 Frameshift 1/20 - 1
1-27023608-CTCCGGGCTCCGGCGCGGCGGCGGCT-C c.714_738del p.G240Afs*115 Frameshift 1/20 - 1
1-27023610-C-G c.716C>G p.P239R Missense 1/20 - 1
1-27023610-C-T c.716C>T p.P239L 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 - 1
1-27023619-G-C c.725G>C p.G242A Missense 1/20 - 1
1-27023619-G-A c.725G>A p.G242D Missense 1/20 - 1
1-27023620-C-CGCA c.728_729insAGC p.A247dup InFrameInsertion 1/20 - 1
1-27023624-G-A c.730G>A p.A244T 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
1-27023628-GC-G c.734del p.A245Gfs*118 Frameshift 1/20 - 1
1-27023628-GCGGCTGCCGGCTCC-G c.734_747del p.A245Efs*150 Frameshift 1/20 - 1
1-27023629-CGGCTGCCGGCTCCA-C c.735_748del p.G248Sfs*147 Frameshift 1/20 - 1
1-27023635-C-CGCA c.742_743insCAG p.A247dup InFrameInsertion 1/20 - 2
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 - 1
1-27023640-C-G c.746C>G p.S249C Missense 1/20 - 1
1-27023645-C-G c.751C>G p.P251A Missense 1/20 - 1
1-27023645-CCGCCT-C c.753_757del p.P252Lfs*146 Frameshift 1/20 - 1
1-27023647-CGCCTCCCTCCT-C c.753_763del p.P252Qfs*144 Frameshift 1/20 - 1
1-27023652-C-T c.758C>T p.P253L Missense 1/20 - 1
1-27023652-C-G c.758C>G p.P253R Missense 1/20 - 1
1-27023647-GCCTC-G c.759_762del p.S254Pfs*108 Frameshift 1/20 - 1
1-27023655-CC-AA c.761_762delinsAA p.S254* Nonsense 1/20 - 1
1-27023654-TC-T c.762del p.S255Pfs*108 Frameshift 1/20 - 1
1-27023651-CCCT-C c.763_765del p.S256del InFrameDeletion 1/20 - 1
1-27023664-C-T c.770C>T p.A257V Missense 1/20 - 1
1-27023663-GCCTCCGCCTC-G c.771_780del p.S258Rfs*102 Frameshift 1/20 - 1
1-27023663-GC-G c.771del p.S258Pfs*105 Frameshift 1/20 - 1
1-27023667-C-T c.773C>T p.S258F Missense 1/20 - 1
1-27023669-G-T c.775G>T p.A259S Missense 1/20 - 1
1-27023673-C-T c.779C>T p.S260F Missense 1/20 - 1
1-27023669-GCCT-G c.780_782del p.S265del InFrameDeletion 1/20 - 2
1-27023676-C-A c.782C>A p.S261* Nonsense 1/20 - 1
1-27023676-C-G c.782C>G p.S261W Missense 1/20 - 1
1-27023676-TCGTCGTCTTC-T c.782_791del p.S261Cfs*99 Frameshift 1/20 - 2
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 - 1
1-27023674-CTCG-C c.786_788del p.S265del InFrameDeletion 1/20 - 2
1-27023685-C-T c.791C>T p.S264L Missense 1/20 - 2
1-27023685-C-A c.791C>A p.S264* Nonsense 1/20 - 4
1-27023690-TT-GC c.796_797delinsGC p.F266A Missense 1/20 - 1
1-27023695-T-A c.801T>A p.A267= Synonymous 1/20 - 1
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 - 6
1-27023697-A-T c.803A>T p.Q268L Missense 1/20 - 1
1-27023699-C-T c.805C>T p.Q269* Nonsense 1/20 - 3
1-27023702-C-T c.808C>T p.R270C Missense 1/20 - 1
1-27023702-CG-AC c.808_809delinsAC p.R270T Missense 1/20 - 1
1-27023703-G-A c.809G>A p.R270H Missense 1/20 - 4
1-27023712-C-T c.818C>T p.A273V Missense 1/20 - 1
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
1-27023716-G-A c.822G>A p.M274I Missense 1/20 - 2
1-27023717-GGG-AGC c.823_825delinsAGC p.G275S Missense 1/20 - 1
1-27023718-G-A c.824G>A p.G275E Missense 1/20 - 1
1-27023718-GGGGGAGGCGGCCC-G c.824_836del p.G275Afs*84 Frameshift 1/20 - 1
1-27023719-GGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTC-G c.825_859del p.G276Pfs*112 Frameshift 1/20 - 1
1-27023720-GGA-AGC c.826_828delinsAGC p.G276S Missense 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 - 1
1-27023721-G-A c.827G>A p.G276E Missense 1/20 - 1
1-27023715-TG-T c.827del p.G276Efs*87 Frameshift 1/20 - 5
1-27023715-T-TG c.827dup p.G277Rfs*123 Frameshift 1/20 - 1
1-27023726-G-A c.832G>A p.G278S Missense 1/20 - 1
1-27023732-T-G c.838T>G p.S280A Missense 1/20 - 1
1-27023732-T-C c.838T>C p.S280P Missense 1/20 - 1
1-27023733-CC-AA c.839_840delinsAA p.S280* Nonsense 1/20 - 1
1-27023734-C-T c.840C>T p.S280= Synonymous 1/20 - 1
1-27023734-C-G c.840C>G p.S280= Synonymous 1/20 - 1
1-27023734-C-A c.840C>A p.S280= Synonymous 1/20 - 1
1-27023737-G-A c.843G>A p.A281= Synonymous 1/20 - 1
1-27023738-G-A c.844G>A p.A282T Missense 1/20 - 1
1-27023743-CG-C c.854del p.G285Efs*78 Frameshift 1/20 - 3
1-27023749-A-G c.855A>G p.G285= Synonymous 1/20 - 1
1-27023749-GAACTCCC-G c.855_861del p.T286Sfs*75 Frameshift 1/20 - 1
1-27023750-A-C c.856A>C p.T286P Missense 1/20 - 2
1-27023752-TC-T c.862del p.Q288Sfs*75 Frameshift 1/20 - 1
1-27023756-C-T c.862C>T p.Q288* Nonsense 1/20 - 3
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 - 1
1-27023760-C-A c.866C>A p.P289H Missense 1/20 - 1
1-27023758-G-GCCCCCCC c.867_868insCCCCCCC p.T290Pfs*112 Frameshift 1/20 - 1
1-27023762-A-G c.868A>G p.T290A Missense 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 - 1
1-27023765-G-C c.871G>C p.A291P Missense 1/20 - 1
1-27023768-A-C c.874A>C p.T292P Missense 1/20 - 1
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 - 2
1-27023774-A-C c.880A>C p.T294P Missense 1/20 - 2
1-27023777-C-A c.883C>A p.L295I Missense 1/20 - 1
1-27023774-A-AC c.883dup p.L295Pfs*105 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
1-27023778-TCAAC-T c.889_892del p.Q297Cfs*65 Frameshift 1/20 - 1
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 - 1
1-27023787-T-G c.893T>G p.L298R Missense 1/20 - 1
1-27023802-G-C c.908G>C p.S303T Missense 1/20 - 1
1-27023808-C-T c.914C>T p.A305V Missense 1/20 - 2
1-27023810-C-T c.916C>T p.R306W Missense 1/20 - 1
1-27023807-GCCCGGGGCTACCAGGGCTAC-G c.921_940del p.Y308Rfs*85 Frameshift 1/20 - 1
1-27023818-C-A c.924C>A p.Y308* Nonsense 1/20 - 1
1-27023818-C-G c.924C>G p.Y308* Nonsense 1/20 - 1
1-27023825-T-A c.931T>A p.Y311N Missense 1/20 - 1
1-27023834-G-C c.940G>C p.G314R Missense 1/20 - 1
1-27023830-C-CG c.941dup p.D315Rfs*85 Frameshift 1/20 - 1
1-27023830-CG-C c.941del p.G314Afs*49 Frameshift 1/20 - 1
1-27023838-A-C c.944A>C p.D315A Missense 1/20 - 1
1-27023829-CCGGGGGCGACTACAGTGGCGGGCCCCAGGA-C c.944_973del p.D315_G324del InFrameDeletion 1/20 - 1
1-27023843-A-G c.949A>G p.S317G Missense 1/20 - 1
1-27023847-G-C c.953G>C p.G318A Missense 1/20 - 1
1-27023850-G-T c.956G>T p.G319V Missense 1/20 - 1
1-27023849-GGGCCCCAGGACGGGGGCGCC-G c.959_978del p.P320Qfs*73 Frameshift 1/20 - 1
1-27023848-CGGGCCCCAGGACGGGGGCGCCGGCAA-C c.961_986del p.Q321Gfs*70 Frameshift 1/20 - 1
1-27023861-G-T c.967G>T p.G323W Missense 1/20 - 1
1-27023862-GGGGCGCC-G c.971_977del p.G324Afs*37 Frameshift 1/20 - 1
1-27023866-C-T c.972C>T p.G324= Synonymous 1/20 - 1
1-27023866-C-G c.972C>G p.G324= Synonymous 1/20 - 1
1-27023866-C-A c.972C>A p.G324= Synonymous 1/20 - 1
1-27023867-G-A c.973G>A p.A325T Missense 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
1-27023886-A-C c.992A>C p.D331A Missense 1/20 - 1
1-27023895-C-G c.1001C>G p.S334W Missense 1/20 - 1
1-27023895-C-A c.1001C>A p.S334* Nonsense 1/20 - 5
1-27023895-C-T c.1001C>T p.S334L Missense 1/20 - 1
1-27023897-C-T c.1003C>T p.Q335* Nonsense 1/20 - 2
1-27023903-TG-T c.1015del p.A339Lfs*24 Frameshift 1/20 - 3
1-27023910-C-G c.1016C>G p.A339G Missense 1/20 - 1
1-27023915-GGCGGCGGC-G c.1021_1028del p.A341Sfs*56 Frameshift 1/20 - 1
1-27023921-G-T c.1027G>T p.A343S Missense 1/20 - 1
1-27023908-GGCTGCGGCGGCGGCA-G c.1029_1043del p.A345_A349del InFrameDeletion 1/20 - 2
1-27023923-AGCTGCGGCGGCGGCC-A c.1032_1046del p.A345_A349del InFrameDeletion 1/20 - 1
1-27023927-TGCGGCGGCGGCCGCC-T c.1033_1047del p.A345_A349del InFrameDeletion 1/20 - 1
1-27023932-G-GGCA c.1040_1041insAGC p.A349dup InFrameInsertion 1/20 - 1
1-27023946-G-A c.1052G>A p.G351E Missense 1/20 - 1
1-27023949-G-C c.1055G>C p.G352A Missense 1/20 - 1
1-27023944-GGGAGGGGCCCAACAAA-G c.1055_1070del p.G352Afs*6 Frameshift 1/20 - 1
1-27023951-G-T c.1057G>T p.A353S Missense 1/20 - 1
1-27023947-AG-A c.1057del p.A353Pfs*10 Frameshift 1/20 - 1
1-27023957-C-T c.1063C>T p.Q355* Nonsense 1/20 - 1
1-27023969-C-T c.1075C>T p.H359Y Missense 1/20 - 2
1-27024001-CG-C c.1113del p.Q372Sfs*19 Frameshift 1/20 - 2
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 - 2
1-27024014-C-T c.1120C>T p.L374F Missense 1/20 - 1
1-27024017-G-A c.1123G>A p.A375T Missense 1/20 - 1
1-27028221-A-G c.1137+4190A>G - 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
1-27039228-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
1-27056157-G-A c.1153G>A p.D385N Missense 2/20 - 1
1-27056160-C-T c.1156C>T p.Q386* Nonsense 2/20 - 1
1-27056166-G-C c.1162G>C p.G388R Missense 2/20 - 1
1-27056170-A-C c.1166A>C p.K389T Missense 2/20 - 1
1-27056174-G-A c.1170G>A p.M390I Missense 2/20 - 1
1-27056175-A-T c.1171A>T p.R391* Nonsense 2/20 - 2
1-27056176-G-A c.1172G>A p.R391K Missense 2/20 - 1
1-27056179-C-A c.1175C>A p.P392H Missense 2/20 - 1
1-27056181-C-T c.1177C>T p.Q393* Nonsense 2/20 - 7
1-27056180-TCAGCCATATGG-T c.1178_1188del p.Q393Rfs*3 Frameshift 2/20 - 1
1-27056183-GCCATATGGCGGGACTAA-G c.1182_1198del p.Y395Ifs*222 Frameshift 2/20 - 1
1-27056189-T-A c.1185T>A p.Y395* Nonsense 2/20 - 2
1-27056189-T-G c.1185T>G p.Y395* Nonsense 2/20 - 2
1-27056191-G-A c.1187G>A p.G396D Missense 2/20 - 2
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 - 1
1-27056209-C-T c.1205C>T p.S402L Missense 2/20 - 1
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
1-27056211-C-T c.1207C>T p.Q403* Nonsense 2/20 - 1
1-27056216-A-T c.1212A>T p.Q404H Missense 2/20 - 2
1-27056216-A-C c.1212A>C p.Q404H Missense 2/20 - 1
1-27056220-G-A c.1216G>A p.G406R Missense 2/20 - 1
1-27056220-G-C c.1216G>C p.G406R Missense 2/20 - 1
1-27056228-G-T c.1224G>T p.P408= Synonymous 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
1-27056230-C-G c.1226C>G p.S409* Nonsense 2/20 - 2
1-27056236-C-T c.1232C>T p.P411L Missense 2/20 - 1
1-27056238-GC-G c.1234del p.Q412Sfs*21 Frameshift 2/20 - 1
1-27056236-CGCA-C c.1236_1238del p.Q413del InFrameDeletion 2/20 - 1
1-27056243-AG-A c.1241del p.G414Dfs*19 Frameshift 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 - 1
1-27056262-C-T c.1258C>T p.Q420* Nonsense 2/20 - 1
1-27056268-TA-GC c.1264_1265delinsGC p.Y422A Missense 2/20 - 1
1-27056271-GG-CA c.1267_1268delinsCA p.G423Q Missense 2/20 - 1
1-27056272-G-A c.1268G>A p.G423E Missense 2/20 - 1
1-27056272-G-T c.1268G>T p.G423V Missense 2/20 - 1
1-27056278-CAGA-C c.1274_1276del p.Q425_T426delinsP MultiAAMissense 2/20 - 1
1-27056282-CCCCGCAGCGG-C c.1278_1287del p.P427Tfs*3 Frameshift 2/20 - 1
1-27056285-G-A c.1281G>A p.P427= Synonymous 2/20 - 1
1-27056286-C-T c.1282C>T p.Q428* Nonsense 2/20 - 2
1-27056289-C-T c.1285C>T p.R429W Missense 2/20 - 1
1-27056290-G-A c.1286G>A p.R429Q Missense 2/20 - 1
1-27056293-A-G c.1289A>G p.Y430C Missense 2/20 - 2
1-27056296-C-A c.1292C>A p.P431Q Missense 2/20 - 1
1-27056296-C-T c.1292C>T p.P431L Missense 2/20 - 1
1-27056315-G-C c.1311G>C p.R437= Synonymous 2/20 - 1
1-27056315-G-A c.1311G>A p.R437= Synonymous 2/20 - 1
1-27056315-G-T c.1311G>T p.R437= Synonymous 2/20 - 1
1-27056313-C-A c.1309C>A p.R437= Synonymous 2/20 - 1
1-27056319-C-A c.1315C>A p.Q439K Missense 2/20 - 1
1-27056321-G-C c.1317G>C p.Q439H Missense 2/20 - 1
1-27056325-G-A c.1321G>A p.A441T Missense 2/20 - 1
1-27056325-GC-G c.1323del p.M442Wfs*177 Frameshift 2/20 - 1
1-27056333-C-T c.1329C>T p.G443= Synonymous 2/20 - 1
1-27056333-C-G c.1329C>G p.G443= Synonymous 2/20 - 1
1-27056333-C-A c.1329C>A p.G443= Synonymous 2/20 - 1
1-27056334-G-A c.1330G>A p.G444S Missense 2/20 - 2
1-27056340-TC-CT c.1336_1337delinsCT p.S446L Missense 2/20 - 1
1-27056341-C-CT c.1339dup p.Y447Lfs*176 Frameshift 2/20 - 1
1-27056343-T-TA c.1340dup p.Y447* Nonsense 2/20 - 1
1-27056342-TTA-T c.1341_1342del p.Q449Afs*173 Frameshift 2/20 - 1
1-27056345-T-G c.1341T>G p.Y447* Nonsense 2/20 - 1
1-27056347-CA-AC c.1343_1344delinsAC p.T448N Missense 2/20 - 1
1-27056349-C-T c.1345C>T p.Q449* Nonsense 2/20 - 1
1-27056353-A-AGATTCCTCCTTATGGACAACAAGGCCCCAGCG c.1350_1350+1insATTCCTCCTTATGGACAACAAGGCCCCAGCGG p.Y462Ffs*168 SpliceDonorInsertion - - 1
1-27056366-T-G c.1350+12T>G - IntronicSNV - 2/19 1
1-27057621-A-C c.1351-22A>C - IntronicSNV - 2/19 1
1-27057621-A-T c.1351-22A>T - IntronicSNV - 2/19 1
1-27057649-C-T c.1357C>T p.P453S Missense 3/20 - 1
1-27057656-G-A c.1364G>A p.G455E Missense 3/20 - 2
1-27057658-C-T c.1366C>T p.Q456* Nonsense 3/20 - 9
1-27057668-C-A c.1376C>A p.P459H Missense 3/20 - 1
1-27057669-C-CT c.1377_1378insT p.S460* Nonsense 3/20 - 1
1-27057665-G-GC c.1377dup p.S460Qfs*163 Frameshift 3/20 - 1
1-27057677-A-G c.1385A>G p.Y462C Missense 3/20 - 1
1-27057682-C-T c.1390C>T p.Q464* Nonsense 3/20 - 1
1-27057692-CA-C c.1400del p.Q467Rfs*152 Frameshift 3/20 - 1
1-27057694-A-C c.1402A>C p.T468P Missense 3/20 - 1
1-27057703-T-TA c.1412dup p.Y471* Nonsense 3/20 - 1
1-27057705-C-A c.1413C>A p.Y471* Nonsense 3/20 - 2
1-27057709-C-T c.1417C>T p.Q473* Nonsense 3/20 - 2
1-27057712-C-T c.1420C>T p.Q474* Nonsense 3/20 - 1
1-27057715-AG-GC c.1423_1424delinsGC p.S475A Missense 3/20 - 1
1-27057718-CCT-TAA c.1426_1428delinsTAA p.P476* Nonsense 3/20 - 1
1-27057718-CCT-C c.1428_1429del p.H477Pfs*145 Frameshift 3/20 - 1
1-27057720-T-TCG c.1429_1430insGC p.H477Rfs*143 Frameshift 3/20 - 1
1-27057724-C-T c.1432C>T p.P478S Missense 3/20 - 1
1-27057723-CCCT-C c.1433_1435del p.P478del InFrameDeletion 3/20 - 1
1-27057727-C-T c.1435C>T p.Q479* Nonsense 3/20 - 4
1-27057727-CA-GC c.1435_1436delinsGC p.Q479A Missense 3/20 - 1
1-27057729-G-A c.1437G>A p.Q479= Synonymous 3/20 - 1
1-27057736-C-T c.1444C>T p.Q482* Nonsense 3/20 - 1
1-27057726-TCAG-T c.1445_1447del p.Q482del InFrameDeletion 3/20 - 1
1-27057746-A-G c.1454A>G p.Y485C Missense 3/20 - 1
1-27057747-C-A c.1455C>A p.Y485* Nonsense 3/20 - 1
1-27057747-C-G c.1455C>G p.Y485* Nonsense 3/20 - 1
1-27057749-C-A c.1457C>A p.S486Y Missense 3/20 - 1
1-27057749-C-T c.1457C>T p.S486F Missense 3/20 - 1
1-27057751-C-T c.1459C>T p.Q487* Nonsense 3/20 - 1
1-27057754-C-T c.1462C>T p.Q488* Nonsense 3/20 - 1
1-27057758-C-T c.1466C>T p.P489L Missense 3/20 - 1
1-27057761-C-T c.1469C>T p.P490L Missense 3/20 - 1
1-27057766-C-T c.1474C>T p.Q492* Nonsense 3/20 - 1
1-27057770-C-G c.1478C>G p.T493S Missense 3/20 - 1
1-27057769-A-T c.1477A>T p.T493S Missense 3/20 - 1
1-27057772-C-A c.1480C>A p.P494T Missense 3/20 - 2
1-27057788-C-A c.1496C>A p.S499* Nonsense 3/20 - 1
1-27057793-C-T c.1501C>T p.Q501* Nonsense 3/20 - 2
1-27057796-C-T c.1504C>T p.Q502* Nonsense 3/20 - 2
1-27057802-C-T c.1510C>T p.P504S Missense 3/20 - 4
1-27057802-CCA-C c.1513_1514del p.Q505Vfs*117 Frameshift 3/20 - 1
1-27057805-C-T c.1513C>T p.Q505* Nonsense 3/20 - 1
1-27057806-A-T c.1514A>T p.Q505L Missense 3/20 - 1
1-27057809-C-G c.1517C>G p.S506C Missense 3/20 - 1
1-27057811-C-T c.1519C>T p.Q507* Nonsense 3/20 - 3
1-27057811-C-G c.1519C>G p.Q507E Missense 3/20 - 1
1-27057812-AACCACCAC-A c.1522_1529del p.P508Afs*112 Frameshift 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
1-27057826-C-T c.1534C>T p.Q512* Nonsense 3/20 - 1
1-27057830-C-T c.1538C>T p.S513F Missense 3/20 - 1
1-27057835-C-T c.1543C>T p.Q515* Nonsense 3/20 - 4
1-27057836-A-T c.1544A>T p.Q515L Missense 3/20 - 1
1-27057847-TCCCAGCAGCCATC-T c.1558_1570del p.Q520Sfs*95 Frameshift 3/20 - 1
1-27057853-C-A c.1561C>A p.Q521K Missense 3/20 - 1
1-27057854-A-G c.1562A>G p.Q521R Missense 3/20 - 1
1-27057862-C-A c.1570C>A p.Q524K Missense 3/20 - 1
1-27057874-C-T c.1582C>T p.Q528* Nonsense 3/20 - 4
1-27057877-C-T c.1585C>T p.Q529* Nonsense 3/20 - 3
1-27057873-TCAG-T c.1585_1587del p.Q529del InFrameDeletion 3/20 - 1
1-27057885-G-A c.1593G>A p.P531= Synonymous 3/20 - 1
1-27057885-G-C c.1593G>C p.P531= Synonymous 3/20 - 1
1-27057885-G-T c.1593G>T p.P531= Synonymous 3/20 - 1
1-27057886-G-A c.1594G>A p.A532T Missense 3/20 - 1
1-27057887-C-T c.1595C>T p.A532V Missense 3/20 - 2
1-27057892-T-A c.1600T>A p.Y534N Missense 3/20 - 1
1-27057899-C-T c.1607C>T p.S536F Missense 3/20 - 1
1-27057901-C-T c.1609C>T p.Q537* Nonsense 3/20 - 4
1-27057904-C-T c.1612C>T p.Q538* Nonsense 3/20 - 5
1-27057914-C-A c.1622C>A p.T541K Missense 3/20 - 1
1-27057916-C-T c.1624C>T p.Q542* Nonsense 3/20 - 2
1-27057916-CA-GT c.1624_1625delinsGT p.Q542V Missense 3/20 - 1
1-27057919-C-A c.1627C>A p.Q543K Missense 3/20 - 1
1-27057928-C-A c.1636C>A p.Q546K Missense 3/20 - 3
1-27057923-A-AC c.1636dup p.Q546Pfs*77 Frameshift 3/20 - 1
1-27057929-A-G c.1637A>G p.Q546R Missense 3/20 - 1
1-27057931-AG-CT c.1639_1640inv p.S547L Missense 3/20 - 1
1-27057934-C-A c.1642C>A p.Q548K Missense 3/20 - 1
1-27057936-G-T c.1644G>T p.Q548H Missense 3/20 - 1
1-27057936-G-GC c.1650dup p.Y551Lfs*72 Frameshift 3/20 - 2
1-27057936-GC-G c.1650del p.Y551Tfs*68 Frameshift 3/20 - 5
1-27057942-C-CT c.1651dup p.Y551Lfs*72 Frameshift 3/20 - 1
1-27057947-C-CA c.1656dup p.Q553Tfs*70 Frameshift 3/20 - 1
1-27057948-CACAGCCACAG-C c.1656_1665del p.Q553Lfs*63 Frameshift 3/20 - 1
1-27057949-C-T c.1657C>T p.Q553* Nonsense 3/20 - 2
1-27057952-C-A c.1660C>A p.P554T Missense 3/20 - 1
1-27057955-C-T c.1663C>T p.Q555* Nonsense 3/20 - 1
1-27057961-C-T c.1669C>T p.Q557* Nonsense 3/20 - 2
1-27057970-T-TA c.1679dup p.Y560* Nonsense 3/20 - 1
1-27057972-C-A c.1680C>A p.Y560* Nonsense 3/20 - 2
1-27057972-C-G c.1680C>G p.Y560* Nonsense 3/20 - 1
1-27057976-C-T c.1684C>T p.Q562* Nonsense 3/20 - 1
1-27057979-C-T c.1687C>T p.Q563* Nonsense 3/20 - 1
1-27057981-G-GC c.1690dup p.Q564Pfs*59 Frameshift 3/20 - 1
1-27057988-C-T c.1696C>T p.Q566* Nonsense 3/20 - 1
1-27057990-G-A c.1698G>A p.Q566= Synonymous 3/20 - 1
1-27057991-C-A c.1699C>A p.Q567K Missense 3/20 - 1
1-27057996-AGCACCCTC-A c.1706_1713del p.A569Dfs*51 Frameshift 3/20 - 1
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 - 1
1-27058006-A-T c.1714A>T p.T572S Missense 3/20 - 1
1-27058007-C-T c.1715C>T p.T572M Missense 3/20 - 1
1-27058011-C-T c.1719C>T p.L573= Synonymous 3/20 - 1
1-27058011-C-G c.1719C>G p.L573= Synonymous 3/20 - 1
1-27058011-C-A c.1719C>A p.L573= Synonymous 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 - 4
1-27058025-C-A c.1733C>A p.A578E Missense 3/20 - 1
1-27058025-C-G c.1733C>G p.A578G Missense 3/20 - 1
1-27058029-T-A c.1737T>A p.Y579* Nonsense 3/20 - 1
1-27058029-T-G c.1737T>G p.Y579* Nonsense 3/20 - 1
1-27058030-C-T c.1738C>T p.P580S Missense 3/20 - 1
1-27058031-C-T c.1739C>T p.P580L Missense 3/20 - 1
1-27058033-C-T c.1741C>T p.Q581* Nonsense 3/20 - 5
1-27058039-C-T c.1747C>T p.Q583* Nonsense 3/20 - 1
1-27058042-T-C c.1750T>C p.S584P Missense 3/20 - 1
1-27058045-C-T c.1753C>T p.Q585* Nonsense 3/20 - 3
1-27058045-CAGCAGTCCCAGCA-C c.1755_1767del p.Q586Lfs*29 Frameshift 3/20 - 1
1-27058048-C-T c.1756C>T p.Q586* Nonsense 3/20 - 2
1-27058044-TCAG-T c.1756_1758del p.Q586del InFrameDeletion 3/20 - 1
1-27058048-C-A c.1756C>A p.Q586K Missense 3/20 - 1
1-27058050-AG-A c.1758del p.Q586Hfs*33 Frameshift 3/20 - 1
1-27058051-TCCCAGCAAACTGC-T c.1761_1773del p.Q588Ifs*27 Frameshift 3/20 - 1
1-27058057-C-T c.1765C>T p.Q589* Nonsense 3/20 - 2
1-27058070-C-T c.1778C>T p.S593F Missense 3/20 - 1
1-27058072-C-T c.1780C>T p.Q594* Nonsense 3/20 - 1
1-27058075-C-T c.1783C>T p.Q595* Nonsense 3/20 - 1
1-27058079-G-A c.1787G>A p.R596H Missense 3/20 - 1
1-27059167-G-T c.1804G>T p.E602* Nonsense 4/20 - 1
1-27059169-G-GC c.1807dup p.L603Pfs*20 Frameshift 4/20 - 1
1-27059176-C-T c.1813C>T p.Q605* Nonsense 4/20 - 2
1-27059183-C-A c.1820C>A p.S607* Nonsense 4/20 - 2
1-27059183-C-G c.1820C>G p.S607* Nonsense 4/20 - 3
1-27059194-C-T c.1831C>T p.Q611* Nonsense 4/20 - 2
1-27059197-G-T c.1834G>T p.A612S Missense 4/20 - 1
1-27059203-T-G c.1840T>G p.S614A Missense 4/20 - 1
1-27059204-C-A c.1841C>A p.S614* Nonsense 4/20 - 4
1-27059204-C-G c.1841C>G p.S614* Nonsense 4/20 - 4
1-27059204-C-T c.1841C>T p.S614L Missense 4/20 - 1
1-27059203-TCAGCCCC-T c.1842_1848del p.A615Qfs*2 Frameshift 4/20 - 1
1-27059207-C-A c.1844C>A p.A615D Missense 4/20 - 1
1-27059209-C-T c.1846C>T p.P616S Missense 4/20 - 1
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 - 1
1-27059212-CT-C c.1849del p.S617Qfs*2 Frameshift 4/20 - 1
1-27059213-C-A c.1850C>A p.S617* Nonsense 4/20 - 1
1-27059213-C-G c.1850C>G p.S617* Nonsense 4/20 - 2
1-27059215-A-G c.1852A>G p.M618V Missense 4/20 - 1
1-27059218-A-AG c.1855_1856insG p.T619Sfs*4 Frameshift 4/20 - 1
1-27059224-CA-C c.1861del p.S621Vfs*8 Frameshift 4/20 - 1
1-27059224-AGTAAGGGAGG-A c.1863_1872del p.G623Kfs*3 Frameshift 4/20 - 1
1-27059227-A-T c.1864A>T p.K622* Nonsense 4/20 - 1
1-27059236-C-T c.1873C>T p.Q625* Nonsense 4/20 - 1
1-27059244-AT-A c.1881del p.D627Efs*2 Frameshift 4/20 - 1
1-27059244-T-TAGGG c.1882_1883insGGGA p.M628Rfs*15 Frameshift 4/20 - 1
1-27059260-C-T c.1897C>T p.Q633* Nonsense 4/20 - 3
1-27059262-AGT-A c.1899_1900del p.Q633Hfs*8 Frameshift 4/20 - 1
1-27059264-C-G c.1901C>G p.S634* Nonsense 4/20 - 3
1-27059264-C-A c.1901C>A p.S634* Nonsense 4/20 - 2
1-27059266-A-T c.1903A>T p.R635* Nonsense 4/20 - 1
1-27059267-G-T c.1904G>T p.R635I Missense 4/20 - 2
1-27059270-C-G c.1907C>G p.P636R Missense 4/20 - 1
1-27059281-C-T c.1918C>T p.P640S Missense 4/20 - 1
1-27061942-C-A c.1920+2659C>A - IntronicSNV - 4/19 1
1-27064382-G-T c.1920+5099G>T - IntronicSNV - 4/19 1
1-27067417-G-A c.1920+8134G>A - IntronicSNV - 4/19 1
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 2
1-27085562-T-C c.1921-1785T>C - IntronicSNV - 4/19 1
1-27087360-C-T c.1934C>T p.S645L Missense 5/20 - 1
1-27087360-C-A c.1934C>A p.S645* Nonsense 5/20 - 1
1-27087360-C-G c.1934C>G p.S645* Nonsense 5/20 - 1
1-27087364-AGATGACCTCCCCATGGGGACAGAAGGAGCTCT-A c.1941_1972del p.D647Efs*18 Frameshift 5/20 - 1
1-27087368-G-T c.1942G>T p.D648Y Missense 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 - 1
1-27087371-C-CT c.1946dup p.M651Hfs*25 Frameshift 5/20 - 1
1-27087374-C-T c.1948C>T p.P650S Missense 5/20 - 1
1-27087375-C-CCATGGAGGT c.1954_1955insAGGTCATGG p.M651_G652insEVM InFrameInsertion 5/20 - 1
1-27087384-C-T c.1958C>T p.T653I Missense 5/20 - 1
1-27087384-C-G c.1958C>G p.T653R Missense 5/20 - 1
1-27087386-G-T c.1960G>T p.E654* Nonsense 5/20 - 1
1-27087396-CTG-C c.1970_1971del p.L657Qfs*18 Frameshift 5/20 - 1
1-27087395-C-CT c.1970dup p.S658Efs*18 Frameshift 5/20 - 1
1-27087397-G-GCTCTA c.1971_1972insCTCTA p.S658Lfs*2 Frameshift 5/20 - 1
1-27087410-A-G c.1984A>G p.S662G Missense 5/20 - 1
1-27087411-G-C c.1985G>C p.S662T Missense 5/20 - 1
1-27087417-C-A c.1991C>A p.S664* Nonsense 5/20 - 1
1-27087417-C-G c.1991C>G p.S664* Nonsense 5/20 - 1
1-27087422-GATTTC-G c.1996_2000del p.I666Qfs*8 Frameshift 5/20 - 1
1-27087426-C-A c.2000C>A p.S667Y Missense 5/20 - 1
1-27087428-A-AAT c.2002_2003insAT p.S668Nfs*75 Frameshift 5/20 - 1
1-27087440-G-T c.2014G>T p.E672* Nonsense 5/20 - 1
1-27087441-A-G c.2015A>G p.E672G Missense 5/20 - 1
1-27087443-C-T c.2017C>T p.Q673* Nonsense 5/20 - 3
1-27087448-TAATCCAGCTC-T c.2024_2033del p.N675Sfs*64 Frameshift 5/20 - 1
1-27087456-C-G c.2030C>G p.A677G Missense 5/20 - 3
1-27087456-C-A c.2030C>A p.A677D Missense 5/20 - 1
1-27087458-C-T c.2032C>T p.Q678* Nonsense 5/20 - 1
1-27087464-C-T c.2038C>T p.P680S Missense 5/20 - 1
1-27087476-C-G c.2050C>G p.H684D Missense 5/20 - 1
1-27087495-C-T c.2069C>T p.P690L Missense 5/20 - 1
1-27087503-C-T c.2077C>T p.R693* Nonsense 5/20 - 8
1-27087504-G-A c.2078G>A p.R693Q Missense 5/20 - 1
1-27087504-GA-AT c.2078_2079delinsAT p.R693H Missense 5/20 - 1
1-27087517-G-A c.2091G>A p.P697= Synonymous 5/20 - 1
1-27087518-T-G c.2092T>G p.S698A Missense 5/20 - 2
1-27087518-TCC-GAG c.2092_2094delinsGAG p.S698E Missense 5/20 - 1
1-27087519-C-T c.2093C>T p.S698F Missense 5/20 - 1
1-27087520-C-CT c.2094_2095insT p.P699Sfs*118 Frameshift 5/20 - 1
1-27087521-C-T c.2095C>T p.P699S Missense 5/20 - 1
1-27087525-T-C c.2099T>C p.V700A Missense 5/20 - 1
1-27087536-G-A c.2110G>A p.A704T Missense 5/20 - 1
1-27087539-A-G c.2113A>G p.S705G Missense 5/20 - 1
1-27087548-C-T c.2122C>T p.Q708* Nonsense 5/20 - 4
1-27087549-A-C c.2123A>C p.Q708P Missense 5/20 - 2
1-27087552-C-G c.2126C>G p.S709C Missense 5/20 - 1
1-27087554-C-T c.2128C>T p.R710C Missense 5/20 - 1
1-27087554-CGC-TGA c.2128_2130delinsTGA p.R710* Nonsense 5/20 - 1
1-27087558-C-A c.2132C>A p.S711* Nonsense 5/20 - 1
1-27087558-C-G c.2132C>G p.S711* Nonsense 5/20 - 2
1-27087568-C-CT c.2143dup p.S715Ffs*102 Frameshift 5/20 - 1
1-27087575-G-T c.2149G>T p.A717S Missense 5/20 - 1
1-27087579-C-T c.2153C>T p.A718V Missense 5/20 - 1
1-27087581-G-A c.2155G>A p.V719M Missense 5/20 - 1
1-27087878-AACCAGAT-A c.2165_2171del p.N722Sfs*18 Frameshift 6/20 - 1
1-27087880-C-T c.2167C>T p.Q723* Nonsense 6/20 - 1
1-27087891-CTCGGCCACCCA-C c.2178_2188del p.R727Wfs*86 Frameshift 6/20 - 1
1-27087892-TCGGCCACCCA-T c.2179_2188del p.R727Vfs*12 Frameshift 6/20 - 2
1-27087893-G-A c.2180G>A p.R727Q Missense 6/20 - 1
1-27087893-GG-AT c.2180_2181delinsAT p.R727H Missense 6/20 - 1
1-27087893-CGGCCACCCAG-C c.2180_2189del p.R727Lfs*12 Frameshift 6/20 - 1
1-27087894-GGCCACCCAGTGGCC-G c.2181_2194del p.P728Vfs*84 Frameshift 6/20 - 1
1-27087890-CTCGGCCACCCAGTGGCCAG-C c.2182_2200del p.P728Tfs*8 Frameshift 6/20 - 1
1-27087895-C-T c.2182C>T p.P728S Missense 6/20 - 1
1-27087895-C-G c.2182C>G p.P728A Missense 6/20 - 1
1-27087894-GC-G c.2183del p.P728Hfs*14 Frameshift 6/20 - 1
1-27087896-CCACCCAG-C c.2183_2189del p.P728Lfs*12 Frameshift 6/20 - 1
1-27087899-CCCAG-C c.2186_2189del p.P729Lfs*12 Frameshift 6/20 - 1
1-27087899-CCCAGT-C c.2186_2190del p.P729Rfs*86 Frameshift 6/20 - 1
1-27087900-C-CT c.2187_2188insT p.S730* Nonsense 6/20 - 1
1-27087904-G-A c.2191G>A p.G731S Missense 6/20 - 1
1-27087911-C-T c.2198C>T p.S733L Missense 6/20 - 2
1-27087917-G-A c.2204G>A p.S735N Missense 6/20 - 2
1-27087927-T-C c.2214T>C p.H738= Synonymous 6/20 - 1
1-27087931-TC-T c.2220del p.M741* Frameshift 6/20 - 1
1-27087936-GA-G c.2225del p.N742Tfs*91 Frameshift 6/20 - 1
1-27087941-A-T c.2228A>T p.Q743L Missense 6/20 - 1
1-27087944-C-G c.2231C>G p.S744* Nonsense 6/20 - 2
1-27087953-C-T c.2240C>T p.A747V Missense 6/20 - 1
1-27087961-C-T c.2248C>T p.R750* Nonsense 6/20 - 4
1-27087961-C-G c.2248C>G p.R750G Missense 6/20 - 1
1-27088546-A-T c.2252-97A>T - IntronicSNV - 6/19 1
1-27088597-C-T c.2252-46C>T - IntronicSNV - 6/19 1
1-27088646-A-T c.2255A>T p.Y752F Missense 7/20 - 1
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 - 2
1-27088650-G-A c.2259G>A p.M753I Missense 7/20 - 1
1-27088656-G-GT c.2265_2266insT p.N756* Nonsense 7/20 - 2
1-27088654-AG-A c.2265del p.N756Tfs*77 Frameshift 7/20 - 1
1-27088658-A-G c.2267A>G p.N756S Missense 7/20 - 1
1-27088659-C-A c.2268C>A p.N756K Missense 7/20 - 1
1-27088658-AC-A c.2272del p.Q758Rfs*75 Frameshift 7/20 - 1
1-27088663-C-T c.2272C>T p.Q758* Nonsense 7/20 - 1
1-27088666-A-G c.2275A>G p.M759V Missense 7/20 - 1
1-27088668-GC-G c.2281del p.Q761Sfs*72 Frameshift 7/20 - 1
1-27088673-A-C c.2282A>C p.Q761P Missense 7/20 - 1
1-27088675-T-G c.2284T>G p.Y762D Missense 7/20 - 1
1-27088675-TA-CC c.2284_2285delinsCC p.Y762P Missense 7/20 - 1
1-27088676-A-AC c.2286dup p.S763Qfs*54 Frameshift 7/20 - 1
1-27088681-T-C c.2290T>C p.S764P Missense 7/20 - 1
1-27088682-C-T c.2291C>T p.S764F Missense 7/20 - 1
1-27088681-TC-T c.2296del p.Q766Sfs*67 Frameshift 7/20 - 2
1-27088681-T-TC c.2296dup p.Q766Pfs*51 Frameshift 7/20 - 1
1-27088688-A-C c.2297A>C p.Q766P Missense 7/20 - 1
1-27088694-G-A c.2303G>A p.G768D Missense 7/20 - 2
1-27088696-T-C c.2305T>C p.S769P Missense 7/20 - 1
1-27088698-A-T c.2307A>T p.S769= Synonymous 7/20 - 1
1-27088698-A-G c.2307A>G p.S769= Synonymous 7/20 - 1
1-27088698-A-C c.2307A>C p.S769= Synonymous 7/20 - 1
1-27088703-T-A c.2312T>A p.L771* Nonsense 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 - 1
1-27088708-C-T c.2317C>T p.P773S Missense 7/20 - 1
1-27088709-C-A c.2318C>A p.P773Q Missense 7/20 - 1
1-27088709-C-T c.2318C>T p.P773L Missense 7/20 - 1
1-27088711-C-T c.2320C>T p.R774C Missense 7/20 - 1
1-27088714-C-T c.2323C>T p.Q775* Nonsense 7/20 - 1
1-27088723-G-A c.2332G>A p.G778R Missense 7/20 - 2
1-27088723-G-C c.2332G>C p.G778R Missense 7/20 - 1
1-27088726-G-T c.2335G>T p.G779* Nonsense 7/20 - 1
1-27088734-TA-T c.2343del p.H782Tfs*51 Frameshift 7/20 - 1
1-27088739-AC-A c.2348del p.T783Kfs*50 Frameshift 7/20 - 1
1-27088742-G-A c.2351G>A p.G784D Missense 7/20 - 1
1-27088745-T-TG c.2357dup p.S787Lfs*30 Frameshift 7/20 - 1
1-27088748-GC-TT c.2357_2358delinsTT p.G786V Missense 7/20 - 1
1-27088745-TGGGCTCCTACCAGCAGAACTCCATG-T c.2358_2382del p.S787Afs*38 Frameshift 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 - 1
1-27088759-C-T c.2368C>T p.Q790* Nonsense 7/20 - 1
1-27088761-G-A c.2370G>A p.Q790= Synonymous 7/20 - 1
1-27088762-A-G c.2371A>G p.N791D Missense 7/20 - 1
1-27088766-C-T c.2375C>T p.S792F Missense 7/20 - 1
1-27088772-G-A c.2381G>A p.G794E Missense 7/20 - 1
1-27088778-A-G c.2387A>G p.Y796C Missense 7/20 - 2
1-27088786-C-G c.2395C>G p.Q799E Missense 7/20 - 1
1-27088786-C-T c.2395C>T p.Q799* Nonsense 7/20 - 1
1-27088790-G-A c.2399G>A p.G800E Missense 7/20 - 1
1-27088787-AG-A c.2402del p.G801Vfs*32 Frameshift 7/20 - 3
1-27088793-G-T c.2402G>T p.G801V Missense 7/20 - 2
1-27088787-A-AG c.2402dup p.Q802Sfs*15 Frameshift 7/20 - 1
1-27088795-C-T c.2404C>T p.Q802* Nonsense 7/20 - 1
1-27088806-A-T c.2415A>T p.P805= Synonymous 7/20 - 1
1-27088901-G-C c.2419+91G>C - IntronicSNV - 7/19 1
1-27089446-G-C c.2420-18G>C - IntronicSNV - 7/19 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
1-27089484-A-C c.2440A>C p.N814H Missense 8/20 - 1
1-27089485-AACTATAAT-A c.2441_2448del p.N814Sfs*55 Frameshift 8/20 - 1
1-27089485-ACTATAATGCCTTG-A c.2443_2455del p.Y815Pfs*14 Frameshift 8/20 - 1
1-27089489-T-A c.2445T>A p.Y815* Nonsense 8/20 - 2
1-27089489-T-G c.2445T>G p.Y815* Nonsense 8/20 - 2
1-27089487-TATA-T c.2446_2448del p.N816del InFrameDeletion 8/20 - 1
1-27089492-T-G c.2448T>G p.N816K Missense 8/20 - 1
1-27089492-T-A c.2448T>A p.N816K Missense 8/20 - 1
1-27089516-C-CT c.2472_2473insT p.S825* Nonsense 8/20 - 1
1-27089512-AC-A c.2472del p.S825Vfs*8 Frameshift 8/20 - 1
1-27089518-G-A c.2474G>A p.S825N Missense 8/20 - 1
1-27089521-GC-G c.2477del p.A826Efs*7 Frameshift 8/20 - 1
1-27089528-G-C c.2484G>C p.M828I Missense 8/20 - 1
1-27089528-G-A c.2484G>A p.M828I Missense 8/20 - 1
1-27089528-G-T c.2484G>T p.M828I Missense 8/20 - 1
1-27089536-G-C c.2492G>C p.G831A Missense 8/20 - 1
1-27089542-AC-A c.2502del p.M835Wfs*24 Frameshift 8/20 - 2
1-27089547-CA-C c.2503del p.M835Wfs*24 Frameshift 8/20 - 1
1-27089550-G-C c.2506G>C p.G836R Missense 8/20 - 1
1-27089554-C-A c.2510C>A p.A837D Missense 8/20 - 1
1-27089554-C-T c.2510C>T p.A837V Missense 8/20 - 1
1-27089555-CCGGAGGTCAAATGCA-C c.2511_2525del p.G839_G843del InFrameDeletion 8/20 - 1
1-27089553-GCCGGAGGTCAAATGCATGGACAGCCTGGCATC-G c.2512_2543del p.G838Tfs*23 Frameshift 8/20 - 1
1-27089557-G-C c.2513G>C p.G838A Missense 8/20 - 1
1-27089557-G-A c.2513G>A p.G838E Missense 8/20 - 1
1-27089562-C-T c.2518C>T p.Q840* Nonsense 8/20 - 2
1-27089565-A-C c.2521A>C p.M841L Missense 8/20 - 1
1-27089567-TG-T c.2523del p.M841Ifs*18 Frameshift 8/20 - 1
1-27089572-G-A c.2528G>A p.G843E Missense 8/20 - 1
1-27089576-GCCTGGCATCCCAC-G c.2534_2546del p.P845Lfs*10 Frameshift 8/20 - 1
1-27089585-C-T c.2541C>T p.I847= Synonymous 8/20 - 1
1-27089586-C-T c.2542C>T p.P848S Missense 8/20 - 1
1-27089593-A-G c.2549A>G p.Y850C Missense 8/20 - 1
1-27089596-G-A c.2552G>A p.G851D Missense 8/20 - 1
1-27089596-G-T c.2552G>T p.G851V Missense 8/20 - 1
1-27089604-C-G c.2560C>G p.P854A Missense 8/20 - 1
1-27089608-C-A c.2564C>A p.P855Q 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 - 1
1-27089618-G-T c.2574G>T p.M858I Missense 8/20 - 1
1-27089620-GTCACGCCTCCATGGGCAACCGGCCTTATGGCCCTAACA-G c.2578_2615del p.H860Gfs*63 Frameshift 8/20 - 1
1-27089625-G-A c.2581G>A p.A861T Missense 8/20 - 3
1-27089638-A-G c.2594A>G p.N865S Missense 8/20 - 1
1-27089641-G-A c.2597G>A p.R866Q Missense 8/20 - 1
1-27089659-TG-T c.2617del p.A873Pfs*18 Frameshift 8/20 - 1
1-27089665-A-G c.2621A>G p.N874S Missense 8/20 - 1
1-27089670-C-T c.2626C>T p.P876S Missense 8/20 - 2
1-27089687-A-AC c.2643_2644insC p.G882Rfs*54 Frameshift 8/20 - 1
1-27089688-G-T c.2644G>T p.G882W Missense 8/20 - 1
1-27089697-C-T c.2653C>T p.P885S Missense 8/20 - 1
1-27089704-CA-AT c.2660_2661delinsAT p.P887H Missense 8/20 - 1
1-27089705-AG-A c.2666del p.G889Afs*2 Frameshift 8/20 - 3
1-27089711-GC-G c.2667del p.M890* Frameshift 8/20 - 1
1-27089712-AT-TA c.2668_2669delinsTA p.M890* Nonsense 8/20 - 1
1-27089712-A-G c.2668A>G p.M890V Missense 8/20 - 2
1-27089718-C-T c.2674C>T p.R892W Missense 8/20 - 1
1-27089725-C-T c.2681C>T p.T894I Missense 8/20 - 1
1-27089727-C-T c.2683C>T p.Q895* Nonsense 8/20 - 1
1-27089724-AC-A c.2683del p.Q895Kfs*24 Frameshift 8/20 - 1
1-27089730-G-T c.2686G>T p.E896* Nonsense 8/20 - 3
1-27089736-G-A c.2692G>A p.A898T Missense 8/20 - 1
1-27089742-G-A c.2698G>A p.A900T Missense 8/20 - 2
1-27089758-C-G c.2714C>G p.A905G Missense 8/20 - 1
1-27089762-C-G c.2718C>G p.N906K Missense 8/20 - 4
1-27089762-C-A c.2718C>A p.N906K Missense 8/20 - 2
1-27089767-T-A c.2723T>A p.I908N Missense 8/20 - 1
1-27089769-C-T c.2725C>T p.Q909* Nonsense 8/20 - 2
1-27089767-TC-T c.2725del p.Q909Kfs*10 Frameshift 8/20 - 1
1-27089774-AC-A c.2730del p.N910Kfs*9 Frameshift 8/20 - 1
1-27089774-C-CT c.2730_2731insT p.R911* SpliceDonorInsertion 8/20 - 1
1-27089774-C-CG c.2730_2731insG p.R911Efs*25 SpliceDonorInsertion 8/20 - 1
1-27089773-A-AC c.2730dup p.R911Qfs*25 SpliceDonorInsertion 8/20 - 1
1-27089774-C-CA c.2731dup p.R911Kfs*25 SpliceDonorInsertion 8/20 - 1
1-27089775-A-AG c.2732+1dup - SpliceDonorInsertion - 8/19 1
1-27089778-T-A c.2732+2T>A - IntronicSNV - 8/19 1
1-27092710-AG-A c.2733del p.R911Sfs*8 Frameshift 9/20 - 1
1-27092713-C-T c.2734C>T p.P912S Missense 9/20 - 3
1-27092719-GG-AT c.2740_2741delinsAT p.G914I Missense 9/20 - 1
1-27092726-C-T c.2747C>T p.P916L Missense 9/20 - 1
1-27092723-A-AC c.2748dup p.N917Qfs*19 Frameshift 9/20 - 1
1-27092731-A-G c.2752A>G p.M918V Missense 9/20 - 1
1-27092733-G-C c.2754G>C p.M918I Missense 9/20 - 1
1-27092733-G-A c.2754G>A p.M918I Missense 9/20 - 1
1-27092733-G-T c.2754G>T p.M918I Missense 9/20 - 1
1-27092737-C-T c.2758C>T p.Q920* Nonsense 9/20 - 2
1-27092764-C-T c.2785C>T p.P929S Missense 9/20 - 2
1-27092764-C-A c.2785C>A p.P929T Missense 9/20 - 1
1-27092765-C-T c.2786C>T p.P929L Missense 9/20 - 1
1-27092770-G-T c.2791G>T p.G931* Nonsense 9/20 - 1
1-27092770-G-A c.2791G>A p.G931R Missense 9/20 - 1
1-27092770-G-C c.2791G>C p.G931R Missense 9/20 - 1
1-27092773-C-T c.2794C>T p.Q932* Nonsense 9/20 - 1
1-27092780-T-C c.2801T>C p.I934T Missense 9/20 - 1
1-27092795-G-GC c.2817dup p.M940Hfs*67 Frameshift 9/20 - 1
1-27092797-A-G c.2818A>G p.M940V Missense 9/20 - 1
1-27092804-A-G c.2825A>G p.N942S Missense 9/20 - 1
1-27092806-C-A c.2827C>A p.P943T Missense 9/20 - 1
1-27092807-C-T c.2828C>T p.P943L Missense 9/20 - 1
1-27092809-C-T c.2830C>T p.Q944* Nonsense 9/20 - 7
1-27092812-G-T c.2833G>T p.G945* Nonsense 9/20 - 2
1-27092810-AG-A c.2834del p.G945Dfs*23 Frameshift 9/20 - 1
1-27092814-AC-A c.2840del p.P947Hfs*21 Frameshift 9/20 - 1
1-27092814-A-AC c.2840dup p.Y948Ifs*59 Frameshift 9/20 - 2
1-27092820-A-T c.2841A>T p.P947= Synonymous 9/20 - 1
1-27092820-A-G c.2841A>G p.P947= Synonymous 9/20 - 1
1-27092820-A-C c.2841A>C p.P947= Synonymous 9/20 - 1
1-27092847-AC-A c.2868del p.N956Kfs*12 Frameshift 9/20 - 1
1-27092849-A-G c.2870A>G p.N957S Missense 9/20 - 2
1-27092852-CT-AA c.2873_2874delinsAA p.S958* Nonsense 9/20 - 1
1-27092852-C-T c.2873C>T p.S958F Missense 9/20 - 1
1-27092857-G-A c.2878G>A p.G960R Missense 9/20 - 1
1-27092963-CCAGA-C c.2894_2897del p.P965Rfs*2 Frameshift 10/20 - 1
1-27092966-AGATGATGGGCCTTG-A c.2899_2912del p.M967Gfs*35 Frameshift 10/20 - 1
1-27092975-GCCTTGGGGATGTAAAGTTAA-G c.2908_2927del p.L970Sfs*30 Frameshift 10/20 - 1
1-27092977-C-G c.2908C>G p.L970V Missense 10/20 - 1
1-27092979-TG-T c.2914del p.D972Mfs*2 Frameshift 10/20 - 2
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
1-27092994-AACTCC-A c.2927_2931del p.T976Sfs*29 Frameshift 10/20 - 1
1-27093011-T-C c.2942T>C p.M981T Missense 10/20 - 1
1-27093012-GAAC-G c.2949_2951del p.N983del InFrameDeletion 10/20 - 2
1-27093028-G-A c.2959G>A p.G987R Missense 10/20 - 1
1-27093028-G-C c.2959G>C p.G987R Missense 10/20 - 1
1-27093043-G-T c.2974G>T p.E992* Nonsense 10/20 - 1
1-27093054-C-CT c.2985_2986insT p.K996* Nonsense 10/20 - 1
1-27093058-G-A c.2988+1G>A - 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 2
1-27094308-G-T c.3016G>T p.E1006* Nonsense 11/20 - 1
1-27094308-G-A c.3016G>A p.E1006K Missense 11/20 - 1
1-27094309-A-G c.3017A>G p.E1006G Missense 11/20 - 1
1-27094312-A-AC c.3020_3021insC p.K1007Nfs*7 Frameshift 11/20 - 1
1-27094320-A-T c.3028A>T p.K1010* Nonsense 11/20 - 1
1-27094322-AGTTGTATGAG-A c.3030_3039del p.K1010Nfs*26 Frameshift 11/20 - 1
1-27094325-G-T c.3033G>T p.L1011F Missense 11/20 - 1
1-27094328-T-A c.3036T>A p.Y1012* Nonsense 11/20 - 1
1-27094328-T-G c.3036T>G p.Y1012* Nonsense 11/20 - 1
1-27094334-G-T c.3042G>T p.L1014= Synonymous 11/20 - 1
1-27094334-G-A c.3042G>A p.L1014= Synonymous 11/20 - 1
1-27094334-G-C c.3042G>C p.L1014= Synonymous 11/20 - 1
1-27094332-C-T c.3040C>T p.L1014= Synonymous 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 - 1
1-27094347-G-T c.3055G>T p.E1019* Nonsense 11/20 - 1
1-27094347-G-A c.3055G>A p.E1019K Missense 11/20 - 1
1-27094347-G-C c.3055G>C p.E1019Q Missense 11/20 - 1
1-27094351-G-A c.3059G>A p.R1020K Missense 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
1-27094359-T-A c.3067T>A p.W1023R Missense 11/20 - 1
1-27094359-T-C c.3067T>C p.W1023R Missense 11/20 - 1
1-27094362-G-A c.3070G>A p.V1024M Missense 11/20 - 1
1-27094365-G-A c.3073G>A p.D1025N Missense 11/20 - 1
1-27094368-C-G c.3076C>G p.R1026G Missense 11/20 - 1
1-27094384-C-T c.3092C>T p.T1031I Missense 11/20 - 2
1-27094386-G-T c.3094G>T p.E1032* Nonsense 11/20 - 1
1-27094401-G-C c.3109G>C p.G1037R Missense 11/20 - 1
1-27094420-C-CT c.3129dup p.V1044Cfs*3 Frameshift 11/20 - 1
1-27094429-G-A c.3137G>A p.R1046K Missense 11/20 - 1
1-27094440-G-T c.3148G>T p.D1050Y Missense 11/20 - 1
1-27094442-C-A c.3150C>A p.D1050E Missense 11/20 - 2
1-27094447-A-AT c.3156dup p.R1053Sfs*52 Frameshift 11/20 - 1
1-27094449-C-T c.3157C>T p.R1053C Missense 11/20 - 1
1-27094450-G-A c.3158G>A p.R1053H Missense 11/20 - 3
1-27094450-GC-G c.3160del p.L1054Sfs*5 Frameshift 11/20 - 1
1-27094452-C-T c.3160C>T p.L1054F Missense 11/20 - 1
1-27094454-CTA-C c.3164_3165del p.Y1055Cfs*49 Frameshift 11/20 - 1
1-27094457-T-A c.3165T>A p.Y1055* Nonsense 11/20 - 1
1-27094457-T-G c.3165T>G p.Y1055* Nonsense 11/20 - 1
1-27094462-C-CT c.3171dup p.V1058Cfs*47 Frameshift 11/20 - 1
1-27094467-AAGG-A c.3178_3180del p.E1060del InFrameDeletion 11/20 - 2
1-27094477-G-T c.3185G>T p.G1062V Missense 11/20 - 1
1-27094477-G-GT c.3186dup p.G1063Wfs*42 Frameshift 11/20 - 1
1-27094486-C-T c.3194C>T p.T1065I Missense 11/20 - 1
1-27094488-C-G c.3196C>G p.Q1066E Missense 11/20 - 1
1-27094488-C-T c.3196C>T p.Q1066* Nonsense 11/20 - 4
1-27094489-A-G c.3197A>G p.Q1066R Missense 11/20 - 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 1
1-27097611-T-G c.3200T>G p.V1067G Missense 12/20 - 1
1-27097611-T-C c.3200T>C p.V1067A Missense 12/20 - 1
1-27097617-A-G c.3206A>G p.K1069R Missense 12/20 - 1
1-27097624-A-AT c.3213_3214insT p.K1072* Nonsense 12/20 - 1
1-27097621-CA-C c.3216del p.K1072Nfs*21 Frameshift 12/20 - 6
1-27097621-C-CA c.3216dup p.W1073Mfs*32 Frameshift 12/20 - 5
1-27097628-TG-GC c.3217_3218delinsGC p.W1073A Missense 12/20 - 1
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
1-27097629-G-T c.3218G>T p.W1073L Missense 12/20 - 1
1-27097630-G-A c.3219G>A p.W1073* Nonsense 12/20 - 2
1-27097631-C-T c.3220C>T p.R1074W Missense 12/20 - 4
1-27097632-G-A c.3221G>A p.R1074Q Missense 12/20 - 2
1-27097631-CG-C c.3223del p.E1075Nfs*18 Frameshift 12/20 - 1
1-27097641-C-A c.3230C>A p.A1077E Missense 12/20 - 1
1-27097658-G-C c.3247G>C p.G1083R Missense 12/20 - 1
1-27097665-C-G c.3254C>G p.S1085* Nonsense 12/20 - 2
1-27097665-C-A c.3254C>A p.S1085* Nonsense 12/20 - 1
1-27097676-GC-G c.3267del p.S1090Afs*3 Frameshift 12/20 - 1
1-27097686-T-C c.3275T>C p.L1092S Missense 12/20 - 1
1-27097687-G-T c.3276G>T p.L1092F Missense 12/20 - 1
1-27097687-G-C c.3276G>C p.L1092F Missense 12/20 - 1
1-27097690-A-AT c.3279_3280insT p.K1094* Nonsense 12/20 - 1
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 - 3
1-27097692-A-AG c.3282dup p.Q1095Afs*10 Frameshift 12/20 - 1
1-27097694-C-T c.3283C>T p.Q1095* Nonsense 12/20 - 1
1-27097698-A-G c.3287A>G p.Y1096C Missense 12/20 - 1
1-27097704-A-T c.3293A>T p.Q1098L Missense 12/20 - 1
1-27097709-C-T c.3298C>T p.L1100F 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-CTA-C c.3302_3303del p.Y1101Cfs*3 Frameshift 12/20 - 1
1-27097717-C-G c.3306C>G p.A1102= Synonymous 12/20 - 1
1-27097717-C-A c.3306C>A 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 - 1
1-27097721-G-A c.3310G>A p.E1104K Missense 12/20 - 1
1-27097733-G-T c.3322G>T p.E1108* Nonsense 12/20 - 1
1-27097733-G-A c.3322G>A p.E1108K Missense 12/20 - 1
1-27097734-GAA-G c.3323_3324del p.E1108Afs*14 Frameshift 12/20 - 1
1-27097737-G-A c.3326G>A p.R1109Q Missense 12/20 - 1
1-27097750-TC-T c.3344del p.P1115Qfs*46 Frameshift 12/20 - 2
1-27097770-CT-AG c.3359_3360inv p.A1120E Missense 12/20 - 1
1-27097788-C-G c.3377C>G p.S1126C Missense 12/20 - 1
1-27097788-C-T c.3377C>T p.S1126F Missense 12/20 - 1
1-27097790-C-T c.3379C>T p.Q1127* Nonsense 12/20 - 2
1-27097795-CA-C c.3386del p.K1129Rfs*32 Frameshift 12/20 - 1
1-27097802-C-T c.3391C>T p.Q1131* Nonsense 12/20 - 1
1-27097800-TC-T c.3391del p.Q1131Sfs*30 Frameshift 12/20 - 1
1-27097804-G-GC c.3395dup p.P1133Sfs*60 Frameshift 12/20 - 1
1-27097808-C-G c.3397C>G p.P1133A Missense 12/20 - 1
1-27097809-CCT-C c.3402_3403del p.P1135Cfs*57 Frameshift 12/20 - 1
1-27097815-CCT-C c.3404_3405del p.P1135Rfs*57 SpliceDonorDeletion 12/20 - 1
1-27097817-G-A c.3406G>A p.A1136T Missense 12/20 - 3
1-27097818-G-T c.3406+1G>T - IntronicSNV - 12/19 2
1-27098991-C-T c.3407C>T p.A1136V Missense 13/20 - 1
1-27098992-G-A c.3408G>A p.A1136= Synonymous 13/20 - 2
1-27098993-G-T c.3409G>T p.G1137* Nonsense 13/20 - 1
1-27098997-C-A c.3413C>A p.S1138* Nonsense 13/20 - 1
1-27099000-G-T c.3416G>T p.G1139V Missense 13/20 - 1
1-27099008-C-T c.3424C>T p.Q1142* Nonsense 13/20 - 2
1-27099017-C-T c.3433C>T p.Q1145* Nonsense 13/20 - 1
1-27099020-A-G c.3436A>G p.T1146A Missense 13/20 - 1
1-27099024-C-T c.3440C>T p.P1147L Missense 13/20 - 1
1-27099022-TC-T c.3442del p.Q1148Sfs*13 Frameshift 13/20 - 1
1-27099030-C-G c.3446C>G p.S1149* Nonsense 13/20 - 2
1-27099030-C-A c.3446C>A p.S1149* Nonsense 13/20 - 1
1-27099037-C-CA c.3454dup p.S1152Kfs*41 Frameshift 13/20 - 1
1-27099044-CA-C c.3460del p.M1154Wfs*7 Frameshift 13/20 - 1
1-27099045-AT-A c.3461del p.M1154Rfs*7 Frameshift 13/20 - 1
1-27099045-TGGCAGAAGGAG-T c.3463_3473del p.A1155Rfs*34 Frameshift 13/20 - 1
1-27099048-C-A c.3464C>A p.A1155E Missense 13/20 - 1
1-27099050-G-A c.3466G>A p.E1156K Missense 13/20 - 1
1-27099061-C-CT c.3479dup p.L1160Ffs*33 Frameshift 13/20 - 1
1-27099063-T-TA c.3482dup p.P1162Afs*31 Frameshift 13/20 - 1
1-27099068-C-T c.3484C>T p.P1162S Missense 13/20 - 1
1-27099072-C-T c.3488C>T p.P1163L Missense 13/20 - 1
1-27099083-TC-CT c.3499_3500delinsCT p.S1167L Missense 13/20 - 1
1-27099089-C-G c.3505C>G p.P1169A Missense 13/20 - 1
1-27099092-C-T c.3508C>T p.H1170Y Missense 13/20 - 1
1-27099089-CCACA-C c.3508_3511del p.H1170Vfs*9 Frameshift 13/20 - 1
1-27099089-CCA-C c.3510_3511del p.H1170Qfs*22 Frameshift 13/20 - 1
1-27099098-C-T c.3514C>T p.Q1172* Nonsense 13/20 - 4
1-27099098-CA-GC c.3514_3515delinsGC p.Q1172A Missense 13/20 - 1
1-27099098-C-G c.3514C>G p.Q1172E Missense 13/20 - 1
1-27099102-TC-T c.3524del p.P1175Hfs*5 Frameshift 13/20 - 2
1-27099102-T-TC c.3524dup p.L1176Ifs*17 Frameshift 13/20 - 2
1-27099108-C-CA c.3525dup p.L1176Ifs*17 Frameshift 13/20 - 1
1-27099109-AT-A c.3527del p.L1176Cfs*4 Frameshift 13/20 - 1
1-27099113-C-G c.3529C>G p.P1177A Missense 13/20 - 1
1-27099124-G-A c.3539+1G>A - IntronicSNV - 13/19 2
1-27099124-G-C c.3539+1G>C - IntronicSNV - 13/19 1
1-27099309-C-G c.3546C>G p.S1182R Missense 14/20 - 1
1-27099309-C-A c.3546C>A p.S1182R Missense 14/20 - 1
1-27099307-A-C c.3544A>C p.S1182R Missense 14/20 - 1
1-27099325-C-T c.3562C>T p.Q1188* Nonsense 14/20 - 1
1-27099336-TA-T c.3575del p.N1192Mfs*14 Frameshift 14/20 - 1
1-27099340-G-C c.3577G>C p.D1193H Missense 14/20 - 1
1-27099341-A-G c.3578A>G p.D1193G Missense 14/20 - 1
1-27099346-A-G c.3583A>G p.S1195G Missense 14/20 - 1
1-27099347-G-GT c.3585dup p.D1196* Nonsense 14/20 - 1
1-27099349-G-A c.3586G>A p.D1196N Missense 14/20 - 1
1-27099352-T-C c.3589T>C p.S1197P Missense 14/20 - 3
1-27099355-A-T c.3592A>T p.T1198S Missense 14/20 - 1
1-27099368-G-A c.3605G>A p.R1202Q Missense 14/20 - 3
1-27099397-C-T c.3634C>T p.Q1212* Nonsense 14/20 - 5
1-27099392-GGTATCAGCCCA-G c.3634_3644del p.Q1212Efs*4 Frameshift 14/20 - 1
1-27099397-C-A c.3634C>A p.Q1212K Missense 14/20 - 1
1-27099403-A-G c.3640A>G p.S1214G Missense 14/20 - 1
1-27099408-G-C c.3645G>C p.M1215I Missense 14/20 - 1
1-27099408-G-A c.3645G>A p.M1215I Missense 14/20 - 1
1-27099408-G-T c.3645G>T p.M1215I Missense 14/20 - 1
1-27099419-ACATGATGGGGCGCATGTCCTATGAGC-A c.3659_3684del p.M1220Kfs*2 Frameshift 14/20 - 1
1-27099423-G-A c.3660G>A p.M1220I Missense 14/20 - 1
1-27099430-C-T c.3667C>T p.R1223C Missense 14/20 - 2
1-27099440-A-G c.3677A>G p.Y1226C Missense 14/20 - 1
1-27099440-A-AT c.3678dup p.E1227* Nonsense 14/20 - 1
1-27099442-G-T c.3679G>T p.E1227* Nonsense 14/20 - 1
1-27099445-C-T c.3682C>T p.P1228S Missense 14/20 - 1
1-27099454-G-A c.3691G>A p.D1231N Missense 14/20 - 1
1-27099462-T-A c.3699T>A p.Y1233* Nonsense 14/20 - 1
1-27099462-T-G c.3699T>G p.Y1233* Nonsense 14/20 - 1
1-27099464-G-T c.3701G>T p.G1234V Missense 14/20 - 1
1-27099470-T-A c.3707T>A p.M1236K 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
1-27099474-G-A c.3711G>A p.R1237= Synonymous 14/20 - 1
1-27099472-A-C c.3709A>C p.R1237= Synonymous 14/20 - 1
1-27099478-G-A c.3715G>A p.A1239T Missense 14/20 - 2
1-27099479-G-A c.3715+1G>A - IntronicSNV - 14/19 1
1-27099830-C-G c.3716-7C>G - IntronicSNV - 14/19 1
1-27099830-C-T c.3716-7C>T - IntronicSNV - 14/19 1
1-27099831-G-A c.3716-6G>A - IntronicSNV - 14/19 1
1-27099837-C-T c.3716C>T p.A1239V Missense 15/20 - 1
1-27099849-A-T c.3728A>T p.D1243V Missense 15/20 - 1
1-27099851-C-T c.3730C>T p.P1244S Missense 15/20 - 1
1-27099861-C-T c.3740C>T p.S1247F Missense 15/20 - 1
1-27099860-TCCTCAGGGCAGGG-T c.3742_3754del p.S1248Pfs*17 Frameshift 15/20 - 1
1-27099869-C-T c.3748C>T p.Q1250* Nonsense 15/20 - 1
1-27099877-C-CT c.3756_3757insT p.N1253* Nonsense 15/20 - 1
1-27099881-G-A c.3760G>A p.G1254S Missense 15/20 - 4
1-27099884-G-A c.3763G>A p.G1255R Missense 15/20 - 1
1-27099884-G-C c.3763G>C p.G1255R Missense 15/20 - 1
1-27099885-G-A c.3764G>A p.G1255E Missense 15/20 - 1
1-27099893-TG-T c.3772del p.D1258Tfs*11 Frameshift 15/20 - 1
1-27099905-C-T c.3784C>T p.R1262C Missense 15/20 - 1
1-27099906-G-A c.3785G>A p.R1262H Missense 15/20 - 1
1-27099914-G-A c.3793G>A p.G1265S Missense 15/20 - 2
1-27099915-G-T c.3794G>T p.G1265V Missense 15/20 - 1
1-27099926-G-A c.3805G>A p.G1269R Missense 15/20 - 1
1-27099935-G-A c.3814G>A p.A1272T Missense 15/20 - 1
1-27099936-C-T c.3815C>T p.A1272V Missense 15/20 - 3
1-27099941-G-A c.3820G>A p.G1274R Missense 15/20 - 1
1-27099947-C-T c.3826C>T p.R1276* Nonsense 15/20 - 16
1-27099950-C-T c.3829C>T p.Q1277* Nonsense 15/20 - 1
1-27099952-G-GCACTACCC c.3836_3837insCCCCACTA p.Y1281Tfs*11 Frameshift 15/20 - 1
1-27099958-T-A c.3837T>A p.Y1279* Nonsense 15/20 - 1
1-27099958-T-G c.3837T>G p.Y1279* Nonsense 15/20 - 1
1-27099961-C-T c.3840C>T p.P1280= Synonymous 15/20 - 1
1-27099961-C-G c.3840C>G p.P1280= Synonymous 15/20 - 1
1-27099961-C-A c.3840C>A p.P1280= Synonymous 15/20 - 1
1-27099963-A-T c.3842A>T p.Y1281F Missense 15/20 - 1
1-27099963-A-G c.3842A>G p.Y1281C Missense 15/20 - 1
1-27099965-G-T c.3844G>T p.G1282* Nonsense 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
1-27099974-T-TA c.3854dup p.Y1285* Nonsense 15/20 - 2
1-27099976-T-G c.3855T>G p.Y1285* Nonsense 15/20 - 2
1-27099976-T-A c.3855T>A p.Y1285* Nonsense 15/20 - 1
1-27099974-TATGACAG-T c.3855_3861del p.Y1285* Frameshift 15/20 - 1
1-27099981-G-C c.3860G>C p.R1287T Missense 15/20 - 2
1-27099984-TGA-T c.3865_3866del p.R1289Dfs*8 SpliceDonorDeletion 15/20 - 1
1-27099988-G-T c.3866+1G>T - IntronicSNV - 15/19 1
1-27099990-A-T c.3866+3A>T - IntronicSNV - 15/19 1
1-27099995-T-A c.3866+8T>A - IntronicSNV - 15/19 1
1-27100073-C-T c.3869C>T p.T1290M Missense 16/20 - 1
1-27100074-G-A c.3870G>A p.T1290= Synonymous 16/20 - 1
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 - 1
1-27100082-G-A c.3878G>A p.G1293E Missense 16/20 - 1
1-27100106-G-A c.3902G>A p.S1301N Missense 16/20 - 1
1-27100114-G-A c.3910G>A p.A1304T Missense 16/20 - 1
1-27100118-C-CA c.3915dup p.Q1306Tfs*17 Frameshift 16/20 - 1
1-27100125-CG-C c.3921del p.N1308Ifs*173 Frameshift 16/20 - 1
1-27100129-C-T c.3925C>T p.L1309F Missense 16/20 - 1
1-27100134-GCCTTC-G c.3932_3936del p.P1311Qfs*10 Frameshift 16/20 - 1
1-27100136-CT-C c.3934del p.S1312Pfs*169 Frameshift 16/20 - 1
1-27100139-C-G c.3935C>G p.S1312C Missense 16/20 - 1
1-27100142-A-G c.3938A>G p.N1313S Missense 16/20 - 2
1-27100145-C-T c.3941C>T p.P1314L Missense 16/20 - 1
1-27100150-T-G c.3946T>G p.S1316A Missense 16/20 - 1
1-27100150-TC-GA c.3946_3947inv p.S1316E Missense 16/20 - 1
1-27100151-C-A c.3947C>A p.S1316* Nonsense 16/20 - 1
1-27100154-G-T c.3950G>T p.G1317V Missense 16/20 - 1
1-27100161-T-A c.3957T>A p.Y1319* Nonsense 16/20 - 1
1-27100161-T-G c.3957T>G p.Y1319* Nonsense 16/20 - 1
1-27100162-T-G c.3958T>G p.S1320A Missense 16/20 - 1
1-27100162-TCT-GAG c.3958_3960delinsGAG p.S1320E Missense 16/20 - 1
1-27100171-C-T c.3967C>T p.R1323C Missense 16/20 - 2
1-27100171-C-A c.3967C>A p.R1323S Missense 16/20 - 1
1-27100175-A-C c.3971A>C p.Y1324S Missense 16/20 - 1
1-27100176-C-T c.3972C>T p.Y1324= Synonymous 16/20 - 1
1-27100180-CCG-TTT c.3976_3978delinsTTT p.P1326F Missense 16/20 - 1
1-27100175-A-AC c.3977dup p.Q1327Afs*11 Frameshift 16/20 - 1
1-27100181-C-T c.3977C>T p.P1326L Missense 16/20 - 3
1-27100175-AC-A c.3977del p.P1326Rfs*155 Frameshift 16/20 - 4
1-27100181-C-A c.3977C>A p.P1326Q Missense 16/20 - 1
1-27100182-G-A c.3978G>A p.P1326= Synonymous 16/20 - 2
1-27100182-G-T c.3978G>T p.P1326= Synonymous 16/20 - 2
1-27100181-C-CG c.3978dup p.Q1327Afs*11 Frameshift 16/20 - 1
1-27100180-CCG-C c.3978_3979del p.Q1327Afs*10 Frameshift 16/20 - 2
1-27100183-CA-GC c.3979_3980delinsGC p.Q1327A Missense 16/20 - 1
1-27100182-G-GC c.3979dup p.Q1327Pfs*11 Frameshift 16/20 - 1
1-27100183-C-T c.3979C>T p.Q1327* Nonsense 16/20 - 1
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
1-27100186-C-T c.3982C>T p.Q1328* Nonsense 16/20 - 1
1-27100189-C-T c.3985C>T p.Q1329* Nonsense 16/20 - 1
1-27100191-G-T c.3987G>T p.Q1329H Missense 16/20 - 1
1-27100191-G-C c.3987G>C p.Q1329H Missense 16/20 - 1
1-27100192-C-T c.3988C>T p.Q1330* Nonsense 16/20 - 1
1-27100181-CGCAGCAGCAGCA-C c.3990_4001del p.Q1331_Q1334del InFrameDeletion 16/20 - 1
1-27100181-CGCAGCAGCA-C c.3993_4001del p.Q1332_Q1334del InFrameDeletion 16/20 - 1
1-27100198-C-T c.3994C>T p.Q1332* Nonsense 16/20 - 1
1-27100201-C-T c.3997C>T p.Q1333* Nonsense 16/20 - 1
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 - 8
1-27100204-C-T c.4000C>T p.Q1334* Nonsense 16/20 - 1
1-27100203-GCAA-G c.4001_4003del p.Q1334del InFrameDeletion 16/20 - 5
1-27100205-A-AG c.4001_4002insG p.R1335Tfs*3 Frameshift 16/20 - 1
1-27100207-C-T c.4003C>T p.R1335* Nonsense 16/20 - 12
1-27100299-ATT-A c.4011_4012del p.S1338Lfs*106 Frameshift 17/20 - 1
1-27100301-C-G c.4013C>G p.S1338C Missense 17/20 - 1
1-27100307-G-T c.4019G>T p.G1340V Missense 17/20 - 1
1-27100312-C-T c.4024C>T p.Q1342* Nonsense 17/20 - 1
1-27100318-TC-T c.4032del p.T1345Pfs*136 Frameshift 17/20 - 1
1-27100322-CC-TG c.4034_4035delinsTG p.T1345M Missense 17/20 - 1
1-27100343-G-GC c.4059dup p.F1354Lfs*91 Frameshift 17/20 - 1
1-27100347-C-T c.4059C>T p.P1353= Synonymous 17/20 - 1
1-27100347-C-G c.4059C>G p.P1353= Synonymous 17/20 - 1
1-27100347-C-A c.4059C>A p.P1353= Synonymous 17/20 - 1
1-27100360-C-T c.4072C>T p.Q1358* Nonsense 17/20 - 2
1-27100361-A-C c.4073A>C p.Q1358P Missense 17/20 - 1
1-27100363-GAC-G c.4075_4076del p.T1359Yfs*85 Frameshift 17/20 - 1
1-27100375-C-T c.4087C>T p.Q1363* Nonsense 17/20 - 1
1-27100379-A-T c.4091A>T p.Q1364L Missense 17/20 - 1
1-27100381-C-T c.4093C>T p.Q1365* Nonsense 17/20 - 2
1-27100830-G-A c.4112G>A p.R1371Q Missense 18/20 - 1
1-27100835-A-G c.4117A>G p.M1373V Missense 18/20 - 1
1-27100836-T-C c.4118T>C p.M1373T Missense 18/20 - 1
1-27100841-G-A c.4123G>A p.G1375S Missense 18/20 - 1
1-27100842-G-T c.4124G>T p.G1375V Missense 18/20 - 1
1-27100849-T-A c.4131T>A p.Y1377* Nonsense 18/20 - 1
1-27100849-T-G c.4131T>G p.Y1377* Nonsense 18/20 - 1
1-27100856-C-T c.4138C>T p.P1380S Missense 18/20 - 1
1-27100859-G-A c.4141G>A p.A1381T Missense 18/20 - 1
1-27100861-C-CT c.4143_4144insT p.K1382* Nonsense 18/20 - 1
1-27100862-A-T c.4144A>T p.K1382* Nonsense 18/20 - 1
1-27100871-G-A c.4153G>A p.E1385K Missense 18/20 - 1
1-27100874-G-T c.4156G>T p.G1386W Missense 18/20 - 1
1-27100888-C-T c.4170C>T p.S1390= Synonymous 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
1-27100903-CTGGGCAGGGGCAG-C c.4185_4197del p.G1396Lfs*81 Frameshift 18/20 - 1
1-27100903-TGG-T c.4187_4188del p.G1396Afs*48 Frameshift 18/20 - 1
1-27100914-A-G c.4196A>G p.Q1399R Missense 18/20 - 1
1-27100919-C-T c.4201C>T p.Q1401* Nonsense 18/20 - 6
1-27100919-C-A c.4201C>A p.Q1401K Missense 18/20 - 1
1-27100925-C-T c.4207C>T p.Q1403* Nonsense 18/20 - 1
1-27100927-G-A c.4209G>A p.Q1403= Synonymous 18/20 - 1
1-27100928-C-T c.4210C>T p.Q1404* Nonsense 18/20 - 2
1-27100918-TCAG-T c.4210_4212del p.Q1404del InFrameDeletion 18/20 - 1
1-27100938-C-T c.4220C>T p.P1407L Missense 18/20 - 1
1-27100933-GC-G c.4220del p.P1407Qfs*74 Frameshift 18/20 - 2
1-27100941-C-T c.4223C>T p.A1408V Missense 18/20 - 1
1-27100943-C-T c.4225C>T p.Q1409* Nonsense 18/20 - 4
1-27100944-A-C c.4226A>C p.Q1409P Missense 18/20 - 1
1-27100946-C-T c.4228C>T p.P1410S Missense 18/20 - 1
1-27100946-C-G c.4228C>G p.P1410A Missense 18/20 - 1
1-27100945-GCCCCAGCCTGC-G c.4229_4239del p.P1410Qfs*31 Frameshift 18/20 - 1
1-27100949-C-T c.4231C>T p.Q1411* Nonsense 18/20 - 1
1-27100961-C-T c.4243C>T p.Q1415* Nonsense 18/20 - 1
1-27100963-G-T c.4245G>T p.Q1415H Missense 18/20 - 1
1-27100963-G-C c.4245G>C p.Q1415H Missense 18/20 - 1
1-27100970-G-A c.4252G>A p.A1418T Missense 18/20 - 2
1-27100976-C-T c.4258C>T p.Q1420* Nonsense 18/20 - 1
1-27100988-C-T c.4270C>T p.Q1424* Nonsense 18/20 - 6
1-27100990-AGCAAGATGTATACAACCAGTATGGCAATGCCTATCCTGCC-A c.4272_4311del p.Q1425Lfs*43 Frameshift 18/20 - 1
1-27100994-G-A c.4276G>A p.D1426N Missense 18/20 - 1
1-27100999-TATACAACCAGTATGGCAATG-T c.4281_4300del p.Y1428Lfs*10 Frameshift 18/20 - 1
1-27101006-C-T c.4288C>T p.Q1430* Nonsense 18/20 - 2
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
1-27101030-A-C c.4312A>C p.T1438P Missense 18/20 - 1
1-27101028-CCACTGCCACAGCTG-C c.4312_4325del p.T1438Yfs*2 Frameshift 18/20 - 1
1-27101037-AC-A c.4319del p.T1440Kfs*41 Frameshift 18/20 - 1
1-27101043-C-G c.4325C>G p.A1442G Missense 18/20 - 1
1-27101048-G-T c.4330G>T p.E1444* Nonsense 18/20 - 4
1-27101054-C-T c.4336C>T p.R1446* Nonsense 18/20 - 8
1-27101054-CGA-TGT c.4336_4338delinsTGT p.R1446C Missense 18/20 - 1
1-27101055-G-A c.4337G>A p.R1446Q Missense 18/20 - 1
1-27101067-GC-G c.4354del p.Q1452Rfs*29 Frameshift 18/20 - 3
1-27101078-C-T c.4360C>T p.Q1454* Nonsense 18/20 - 1
1-27101088-T-C c.4370T>C p.F1457S Missense 18/20 - 1
1-27101090-C-T c.4372C>T p.Q1458* Nonsense 18/20 - 1
1-27101091-CAGTTT-C c.4373_4377del p.Q1458Rfs*31 Frameshift 18/20 - 1
1-27101099-C-T c.4381C>T p.R1461* Nonsense 18/20 - 6
1-27101102-G-A c.4384G>A p.D1462N Missense 18/20 - 1
1-27101105-C-T c.4387C>T p.R1463C Missense 18/20 - 1
1-27101106-G-A c.4388G>A p.R1463H Missense 18/20 - 2
1-27101108-G-GT c.4391dup p.S1465Lfs*26 Frameshift 18/20 - 1
1-27101109-T-A c.4391T>A p.V1464D Missense 18/20 - 1
1-27101121-C-T c.4403C>T p.P1468L Missense 18/20 - 1
1-27101116-AC-A c.4403del p.P1468Lfs*13 Frameshift 18/20 - 1
1-27101127-ACCAAT-A c.4409_4413del p.T1470Sfs*19 Frameshift 18/20 - 1
1-27101130-A-T c.4412A>T p.N1471I Missense 18/20 - 1
1-27101135-C-T c.4417C>T p.Q1473* Nonsense 18/20 - 2
1-27101138-C-T c.4420C>T p.Q1474* Nonsense 18/20 - 1
1-27101145-AT-A c.4427del p.M1476Sfs*5 Frameshift 18/20 - 1
1-27101153-C-T c.4435C>T p.Q1479* Nonsense 18/20 - 1
1-27101154-CAAA-C c.4436_4438del p.Q1479_M1480delinsL MultiAAMissense 18/20 - 1
1-27101158-G-C c.4440G>C p.M1480I Missense 18/20 - 1
1-27101161-G-C c.4443G>C p.M1481I Missense 18/20 - 1
1-27101161-G-A c.4443G>A p.M1481I Missense 18/20 - 1
1-27101161-G-T c.4443G>T p.M1481I Missense 18/20 - 1
1-27101169-CCATA-C c.4454_4457del p.I1485Rfs*19 Frameshift 18/20 - 1
1-27101174-C-T c.4456C>T p.Q1486* Nonsense 18/20 - 3
1-27101178-C-T c.4460C>T p.A1487V Missense 18/20 - 1
1-27101180-T-C c.4462T>C p.S1488P Missense 18/20 - 1
1-27101186-G-T c.4468G>T p.E1490* Nonsense 18/20 - 2
1-27101194-T-G c.4476T>G p.A1492= Synonymous 18/20 - 1
1-27101195-C-T c.4477C>T p.Q1493* Nonsense 18/20 - 4
1-27101198-C-T c.4480C>T p.Q1494* Nonsense 18/20 - 1
1-27101211-G-A c.4493G>A p.W1498* Nonsense 18/20 - 4
1-27101212-G-A c.4494G>A p.W1498* Nonsense 18/20 - 2
1-27101214-A-AG c.4500dup p.R1501Afs*2 Frameshift 18/20 - 2
1-27101219-C-T c.4501C>T p.R1501C Missense 18/20 - 2
1-27101223-A-AT c.4506dup p.D1503* Nonsense 18/20 - 1
1-27101233-C-CT c.4516dup p.Y1506Lfs*2 Frameshift 18/20 - 1
1-27101242-T-A c.4524T>A p.Y1508* Nonsense 18/20 - 1
1-27101254-G-T c.4536G>T p.Q1512H Missense 18/20 - 1
1-27101258-A-C c.4540A>C p.T1514P Missense 18/20 - 1
1-27101256-GCACGGGCTCTGCCCCC-G c.4541_4556del p.T1514Rfs*8 Frameshift 18/20 - 1
1-27101259-C-T c.4541C>T p.T1514M Missense 18/20 - 2
1-27101259-AC-A c.4541del p.T1514Rfs*13 Frameshift 18/20 - 1
1-27101261-G-T c.4543G>T p.G1515C Missense 18/20 - 1
1-27101262-GGCTCTGCCCC-G c.4544_4553del p.G1515Afs*9 Frameshift 18/20 - 1
1-27101268-C-T c.4550C>T p.A1517V Missense 18/20 - 1
1-27101267-G-GC c.4555dup p.Q1519Pfs*13 Frameshift 18/20 - 4
1-27101267-GC-G c.4555del p.Q1519Rfs*8 Frameshift 18/20 - 2
1-27101273-C-T c.4555C>T p.Q1519* Nonsense 18/20 - 1
1-27101274-CA-C c.4556del p.Q1519Rfs*8 Frameshift 18/20 - 1
1-27101275-G-T c.4557G>T p.Q1519H Missense 18/20 - 1
1-27101277-GC-G c.4563del p.A1522Pfs*5 Frameshift 18/20 - 1
1-27101282-G-A c.4564G>A p.A1522T Missense 18/20 - 5
1-27101284-CTATCATGGCG-C c.4568_4577del p.Y1523* Frameshift 18/20 - 1
1-27101287-T-A c.4569T>A p.Y1523* Nonsense 18/20 - 1
1-27101287-T-G c.4569T>G p.Y1523* Nonsense 18/20 - 1
1-27101289-A-G c.4571A>G p.H1524R Missense 18/20 - 1
1-27101294-G-A c.4576G>A p.V1526M Missense 18/20 - 2
1-27101300-C-T c.4582C>T p.R1528* Nonsense 18/20 - 3
1-27101306-G-A c.4588G>A p.D1530N Missense 18/20 - 1
1-27101309-G-A c.4591G>A p.E1531K Missense 18/20 - 1
1-27101309-TG-T c.4591del p.E1531Kfs*34 Frameshift 18/20 - 1
1-27101317-GCA-G c.4604_4605del p.T1535Rfs*36 Frameshift 18/20 - 1
1-27101322-C-G c.4604C>G p.T1535R Missense 18/20 - 1
1-27101324-G-T c.4606G>T p.D1536Y Missense 18/20 - 1
1-27101338-C-A c.4620C>A p.N1540K Missense 18/20 - 2
1-27101342-G-A c.4624G>A p.E1542K Missense 18/20 - 2
1-27101342-G-T c.4624G>T p.E1542* Nonsense 18/20 - 1
1-27101343-GAAGGC-G c.4625_4629del p.E1542Vfs*28 Frameshift 18/20 - 1
1-27101345-AGGCTCGTGGC-A c.4627_4636del p.G1543Lfs*19 Frameshift 18/20 - 1
1-27101348-T-G c.4630T>G p.S1544A Missense 18/20 - 1
1-27101353-G-A c.4635G>A p.W1545* Nonsense 18/20 - 1
1-27101358-C-T c.4640C>T p.S1547F Missense 18/20 - 1
1-27101369-C-T c.4651C>T p.R1551C Missense 18/20 - 1
1-27101378-C-T c.4660C>T p.P1554S Missense 18/20 - 1
1-27101386-TC-T c.4671del p.S1558Lfs*7 Frameshift 18/20 - 1
1-27101386-TCCCTCTG-T c.4672_4678del p.S1558Lfs*5 Frameshift 18/20 - 1
1-27101391-C-T c.4673C>T p.S1558F Missense 18/20 - 1
1-27101396-C-G c.4678C>G p.P1560A Missense 18/20 - 1
1-27101398-T-C c.4680T>C p.P1560= Synonymous 18/20 - 1
1-27101403-C-T c.4685C>T p.P1562L Missense 18/20 - 1
1-27101405-C-T c.4687C>T p.P1563S Missense 18/20 - 3
1-27101401-GC-G c.4689del p.M1564* Frameshift 18/20 - 2
1-27101408-AT-TA c.4690_4691delinsTA p.M1564* Nonsense 18/20 - 1
1-27101413-A-AT c.4695_4696insT p.R1566* Nonsense 18/20 - 1
1-27101415-G-A c.4697G>A p.R1566K Missense 18/20 - 2
1-27101415-AGG-A c.4697_4698del p.R1566Tfs*5 Frameshift 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 - 1
1-27101420-C-T c.4702C>T p.P1568S Missense 18/20 - 2
1-27101424-C-T c.4706C>T p.P1569L Missense 18/20 - 1
1-27101427-C-T c.4709C>T p.S1570F Missense 18/20 - 1
1-27101427-C-G c.4709C>G p.S1570C Missense 18/20 - 1
1-27101427-C-CT c.4710dup p.N1571* Nonsense 18/20 - 1
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 - 1
1-27101434-C-G c.4716C>G p.Y1572* Nonsense 18/20 - 2
1-27101435-C-T c.4717C>T p.Q1573* Nonsense 18/20 - 3
1-27101439-C-T c.4721C>T p.P1574L Missense 18/20 - 1
1-27101442-C-A c.4724C>A p.P1575Q Missense 18/20 - 2
1-27101445-C-T c.4727C>T p.P1576L Missense 18/20 - 2
1-27101453-C-T c.4735C>T p.Q1579* Nonsense 18/20 - 1
1-27101454-A-C c.4736A>C p.Q1579P Missense 18/20 - 2
1-27101457-A-AC c.4739_4740insC p.H1581Sfs*22 Frameshift 18/20 - 1
1-27101459-C-T c.4741C>T p.H1581Y Missense 18/20 - 1
1-27101459-C-G c.4741C>G p.H1581D Missense 18/20 - 1
1-27101458-TCA-T c.4743_4744del p.I1582Sfs*20 Frameshift 18/20 - 1
1-27101463-T-G c.4745T>G p.I1582S Missense 18/20 - 1
1-27101466-C-T c.4748C>T p.P1583L Missense 18/20 - 1
1-27101468-C-T c.4750C>T p.Q1584* Nonsense 18/20 - 3
1-27101468-TCA-T c.4750_4751del p.Q1584Gfs*18 Frameshift 18/20 - 1
1-27101470-G-T c.4752G>T p.Q1584H Missense 18/20 - 1
1-27101495-C-T c.4777C>T p.R1593W Missense 18/20 - 4
1-27101495-C-A c.4777C>A p.R1593= Synonymous 18/20 - 1
1-27101497-G-A c.4779G>A p.R1593= Synonymous 18/20 - 1
1-27101497-G-C c.4779G>C p.R1593= Synonymous 18/20 - 1
1-27101497-G-T c.4779G>T p.R1593= Synonymous 18/20 - 1
1-27101496-G-A c.4778G>A p.R1593Q Missense 18/20 - 1
1-27101497-G-GC c.4781dup p.M1595Nfs*8 Frameshift 18/20 - 1
1-27101501-A-G c.4783A>G p.M1595V Missense 18/20 - 1
1-27101504-G-C c.4786G>C p.E1596Q Missense 18/20 - 1
1-27101525-CAAGTCTCCATTCCT-C c.4807_4820del p.K1603Afs*40 Frameshift 18/20 - 1
1-27101541-A-G c.4823A>G p.H1608R Missense 18/20 - 1
1-27101552-A-G c.4834A>G p.K1612E Missense 18/20 - 1
1-27101558-C-T c.4840C>T p.Q1614* Nonsense 18/20 - 4
1-27101565-C-T c.4847C>T p.A1616V Missense 18/20 - 1
1-27101570-C-T c.4852C>T p.P1618S Missense 18/20 - 1
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
1-27101591-A-AT c.4874dup p.A1626Sfs*22 Frameshift 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
1-27101600-GC-G c.4886del p.P1629Lfs*6 Frameshift 18/20 - 1
1-27101611-G-GC c.4899dup p.M1634Hfs*14 Frameshift 18/20 - 2
1-27101620-G-C c.4902G>C p.M1634I Missense 18/20 - 1
1-27101620-G-A c.4902G>A p.M1634I Missense 18/20 - 1
1-27101620-G-T c.4902G>T p.M1634I Missense 18/20 - 1
1-27101624-C-T c.4906C>T p.R1636W Missense 18/20 - 2
1-27101629-G-A c.4911G>A p.R1637= Synonymous 18/20 - 1
1-27101642-C-T c.4924C>T p.P1642S Missense 18/20 - 1
1-27101644-A-ATGGC c.4926_4927insTGGC p.P1643Wfs*6 Frameshift 18/20 - 1
1-27101651-CT-C c.4933del p.S1645Lfs*9 Frameshift 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
1-27101657-G-T c.4939G>T p.E1647* Nonsense 18/20 - 1
1-27101661-C-T c.4943C>T p.A1648V Missense 18/20 - 1
1-27101665-A-G c.4947A>G p.T1649= Synonymous 18/20 - 1
1-27101666-C-T c.4948C>T p.Q1650* Nonsense 18/20 - 2
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 - 2
1-27101672-G-A c.4954G>A p.V1652M Missense 18/20 - 1
1-27101673-T-TG c.4956dup p.L1653Vfs*45 Frameshift 18/20 - 1
1-27101685-G-A c.4967G>A p.R1656K Missense 18/20 - 1
1-27101686-G-T c.4968G>T p.R1656S Missense 18/20 - 1
1-27101690-C-T c.4972C>T p.R1658W Missense 18/20 - 2
1-27101699-A-G c.4981A>G p.M1661V Missense 18/20 - 1
1-27101708-A-T c.4990A>T p.I1664F Missense 18/20 - 1
1-27101709-T-G c.4991T>G p.I1664S Missense 18/20 - 1
1-27101710-T-TC c.4992_4993insC p.G1665Rfs*33 SpliceDonorInsertion 18/20 - 1
1-27101710-T-TA c.4992_4993insA p.G1665Rfs*33 SpliceDonorInsertion 18/20 - 1
1-27101708-A-AT c.4992dup p.G1665Wfs*33 SpliceDonorInsertion 18/20 - 1
1-27101708-ATTGGTAAGGAGATCTTCCTCATTCGGTTGCCTAATCTGCCCCT-A c.4993_4993+42del - SpliceDonorDeletion 18/20 18/19 1
1-27101711-G-T c.4993G>T p.G1665* Nonsense 18/20 - 2
1-27101712-G-T c.4993+1G>T - IntronicSNV - 18/19 2
1-27101712-G-A c.4993+1G>A - IntronicSNV - 18/19 1
1-27102071-C-T c.4997C>T p.T1666I Missense 19/20 - 1
1-27102074-C-T c.5000C>T p.P1667L Missense 19/20 - 1
1-27102076-G-T c.5002G>T p.E1668* Nonsense 19/20 - 2
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
1-27102083-G-A c.5009G>A p.W1670* Nonsense 19/20 - 3
1-27102084-G-A c.5010G>A p.W1670* Nonsense 19/20 - 2
1-27102085-C-T c.5011C>T p.R1671W Missense 19/20 - 1
1-27102085-CG-C c.5014del p.V1672* Frameshift 19/20 - 2
1-27102093-G-C c.5019G>C p.M1673I Missense 19/20 - 1
1-27102093-G-A c.5019G>A 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 - 1
1-27102103-A-T c.5029A>T p.K1677* Nonsense 19/20 - 2
1-27102106-TC-CT c.5032_5033delinsCT p.S1678L Missense 19/20 - 1
1-27102120-A-AT c.5046_5047insT p.E1683* Nonsense 19/20 - 2
1-27102121-G-A c.5047G>A p.E1683K Missense 19/20 - 1
1-27102121-G-T c.5047G>T p.E1683* Nonsense 19/20 - 1
1-27102131-G-A c.5057G>A p.W1686* Nonsense 19/20 - 1
1-27102132-G-A c.5058G>A p.W1686* Nonsense 19/20 - 1
1-27102152-TCCTG-T c.5080_5083del p.L1694Cfs*8 Frameshift 19/20 - 1
1-27102163-G-A c.5089G>A p.D1697N Missense 19/20 - 1
1-27102164-A-G c.5090A>G p.D1697G Missense 19/20 - 1
1-27102175-A-C c.5101A>C p.I1701L Missense 19/20 - 1
1-27102180-G-A c.5106G>A p.M1702I Missense 19/20 - 2
1-27102188-A-G c.5114A>G p.N1705S Missense 19/20 - 3
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
1-27105517-C-T c.5128C>T p.P1710S Missense 20/20 - 1
1-27105518-C-T c.5129C>T p.P1710L Missense 20/20 - 2
1-27105518-CCAGGG-C c.5129_5133del p.P1710Lfs*15 Frameshift 20/20 - 1
1-27105521-G-C c.5132G>C p.G1711A Missense 20/20 - 1
1-27105522-G-GT c.5135dup p.L1712Ffs*15 Frameshift 20/20 - 1
1-27105527-T-C c.5138T>C p.L1713P Missense 20/20 - 1
1-27105526-CTAGAGCTCCTTGTAGAATAT-C c.5139_5158del p.E1714Pfs*6 Frameshift 20/20 - 1
1-27105527-TAGAGCTCCTTGTAGA-T c.5140_5154del p.E1714_E1718del InFrameDeletion 20/20 - 1
1-27105531-G-T c.5142G>T p.E1714D Missense 20/20 - 1
1-27105541-G-T c.5152G>T p.E1718* Nonsense 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 - 1
1-27105548-TC-AA c.5159_5160delinsAA p.F1720* Missense 20/20 - 1
1-27105550-C-T c.5161C>T p.R1721* Nonsense 20/20 - 8
1-27105551-G-C c.5162G>C p.R1721P Missense 20/20 - 2
1-27105551-G-A c.5162G>A p.R1721Q Missense 20/20 - 1
1-27105553-C-T c.5164C>T p.R1722* Nonsense 20/20 - 11
1-27105553-C-A c.5164C>A p.R1722= Synonymous 20/20 - 1
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 - 1
1-27105560-T-G c.5171T>G p.L1724R Missense 20/20 - 1
1-27105565-G-C c.5176G>C p.E1726Q Missense 20/20 - 2
1-27105565-G-T c.5176G>T p.E1726* Nonsense 20/20 - 1
1-27105572-T-C c.5183T>C p.F1728S Missense 20/20 - 1
1-27105575-G-A c.5186G>A p.G1729D Missense 20/20 - 1
1-27105586-G-T c.5197G>T p.E1733* Nonsense 20/20 - 1
1-27105591-T-G c.5202T>G p.Y1734* Nonsense 20/20 - 1
1-27105591-T-A c.5202T>A p.Y1734* Nonsense 20/20 - 1
1-27105592-G-A c.5203G>A p.E1735K Missense 20/20 - 1
1-27105610-CAGAGA-C c.5223_5227del p.Q1741Hfs*13 Frameshift 20/20 - 1
1-27105617-C-T c.5228C>T p.T1743M Missense 20/20 - 1
1-27105623-TG-T c.5236del p.D1746Ifs*24 Frameshift 20/20 - 1
1-27105628-C-T c.5239C>T p.P1747S Missense 20/20 - 1
1-27105635-G-A c.5246G>A p.R1749K Missense 20/20 - 1
1-27105653-G-C c.5264G>C p.S1755T Missense 20/20 - 1
1-27105658-G-T c.5269G>T p.A1757S Missense 20/20 - 1
1-27105659-C-T c.5270C>T p.A1757V Missense 20/20 - 1
1-27105665-T-TG c.5278dup p.E1760Gfs*13 Frameshift 20/20 - 1
1-27105670-G-T c.5281G>T p.G1761C Missense 20/20 - 1
1-27105675-G-GT c.5286_5287insT p.E1763* Nonsense 20/20 - 1
1-27105676-G-T c.5287G>T p.E1763* Nonsense 20/20 - 1
1-27105679-G-T c.5290G>T p.E1764* Nonsense 20/20 - 1
1-27105682-AG-A c.5293del p.E1765Kfs*5 Frameshift 20/20 - 1
1-27105684-A-C c.5295A>C p.E1765D Missense 20/20 - 1
1-27105675-GGAAGAA-G c.5296_5301del p.E1766_E1767del InFrameDeletion 20/20 - 1
1-27105675-GGAA-G c.5299_5301del p.E1767del InFrameDeletion 20/20 - 2
1-27105688-G-T c.5299G>T p.E1767* Nonsense 20/20 - 1
1-27105688-G-C c.5299G>C p.E1767Q Missense 20/20 - 1
1-27105694-TCTAGGTCCTAAAC-T c.5305_5317del p.L1769* Frameshift 20/20 - 1
1-27105700-C-T c.5311C>T p.P1771S Missense 20/20 - 1
1-27105703-A-G c.5314A>G p.K1772E Missense 20/20 - 1
1-27105715-G-T c.5326G>T p.E1776* Nonsense 20/20 - 1
1-27105715-G-C c.5326G>C p.E1776Q Missense 20/20 - 1
1-27105707-TAGAAGAGGAAGA-T c.5330_5341del p.E1777_E1780del InFrameDeletion 20/20 - 2
1-27105714-GGAA-G c.5334_5336del p.E1780del InFrameDeletion 20/20 - 2
1-27105724-G-A c.5335G>A p.E1779K Missense 20/20 - 1
1-27105724-G-T c.5335G>T p.E1779* Nonsense 20/20 - 2
1-27105725-A-G c.5336A>G p.E1779G Missense 20/20 - 3
1-27105727-G-T c.5338G>T p.E1780* Nonsense 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
1-27105736-G-A c.5347G>A p.E1783K Missense 20/20 - 1
1-27105736-TG-T c.5347del p.E1783Kfs*6 Frameshift 20/20 - 1
1-27105738-AAATGATGAGGAGAT-A c.5351_5364del p.N1784Sfs*13 Frameshift 20/20 - 1
1-27105745-G-C c.5356G>C p.E1786Q Missense 20/20 - 1
1-27105748-G-C c.5359G>C p.E1787Q Missense 20/20 - 1
1-27105748-G-T c.5359G>T p.E1787* Nonsense 20/20 - 1
1-27105751-AT-TA c.5362_5363delinsTA p.I1788* Nonsense 20/20 - 1
1-27105755-GCCTT-G c.5366_5369del p.A1789Vfs*16 Frameshift 20/20 - 1
1-27105756-CT-C c.5371del p.S1791Qfs*15 Frameshift 20/20 - 1
1-27105761-C-T c.5372C>T p.S1791L Missense 20/20 - 1
1-27105774-G-C c.5385G>C p.K1795N Missense 20/20 - 1
1-27105774-G-T c.5385G>T p.K1795N Missense 20/20 - 1
1-27105787-A-C c.5398A>C p.N1800H Missense 20/20 - 1
1-27105789-T-C c.5400T>C p.N1800= Synonymous 20/20 - 1
1-27105793-G-T c.5404G>T p.E1802* Nonsense 20/20 - 1
1-27105792-TGAG-T c.5407_5409del p.E1803del InFrameDeletion 20/20 - 1
1-27105803-CTGATCAGT-C c.5414_5421del p.L1805Qfs*3 Frameshift 20/20 - 1
1-27105805-A-G c.5416A>G p.I1806V Missense 20/20 - 1
1-27105813-G-A c.5424G>A p.K1808= Synonymous 20/20 - 1
1-27105813-G-GT c.5427dup p.D1810* Nonsense 20/20 - 1
1-27105824-T-C c.5435T>C p.L1812P Missense 20/20 - 1
1-27105831-TAAAGATC-T c.5442_5448del p.K1815Yfs*66 Frameshift 20/20 - 1
1-27105839-T-TA c.5451dup p.Q1818Tfs*4 Frameshift 20/20 - 1
1-27105841-C-T c.5452C>T p.Q1818* 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 - 1
1-27105846-G-GT c.5457_5458insT p.N1820* Nonsense 20/20 - 1
1-27105850-G-T c.5461G>T p.D1821Y Missense 20/20 - 1
1-27105856-T-C c.5467T>C p.F1823L Missense 20/20 - 1
1-27105859-G-T c.5470G>T p.V1824L Missense 20/20 - 1
1-27105862-G-C c.5473G>C p.V1825L Missense 20/20 - 1
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 - 1
1-27105868-T-G c.5479T>G p.C1827G Missense 20/20 - 1
1-27105872-C-A c.5483C>A p.S1828* Nonsense 20/20 - 2
1-27105872-C-G c.5483C>G p.S1828* Nonsense 20/20 - 2
1-27105874-G-C c.5485G>C p.D1829H 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 - 1
1-27105880-C-G c.5491C>G p.L1831V Missense 20/20 - 1
1-27105881-T-C c.5492T>C p.L1831P Missense 20/20 - 1
1-27105886-C-T c.5497C>T p.R1833C Missense 20/20 - 3
1-27105890-T-C c.5501T>C p.V1834A Missense 20/20 - 1
1-27105892-C-T c.5503C>T p.Q1835* Nonsense 20/20 - 2
1-27105893-A-G c.5504A>G p.Q1835R Missense 20/20 - 1
1-27105894-G-GT c.5505_5506insT p.E1836* Nonsense 20/20 - 1
1-27105899-T-A c.5510T>A p.F1837Y Missense 20/20 - 1
1-27105903-C-CT c.5514_5515insT p.S1839* Nonsense 20/20 - 1
1-27105912-G-T c.5523G>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
1-27105910-C-T c.5521C>T p.L1841= Synonymous 20/20 - 1
1-27105920-G-A c.5531G>A p.W1844* Nonsense 20/20 - 2
1-27105921-G-A c.5532G>A p.W1844* Nonsense 20/20 - 4
1-27105923-G-A c.5534G>A p.R1845Q Missense 20/20 - 2
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 - 1
1-27105929-G-GT c.5541dup p.G1848Wfs*6 Frameshift 20/20 - 1
1-27105930-T-G c.5541T>G p.G1847= Synonymous 20/20 - 1
1-27105930-T-A c.5541T>A p.G1847= Synonymous 20/20 - 1
1-27105930-T-C c.5541T>C p.G1847= Synonymous 20/20 - 1
1-27105931-G-C c.5542G>C p.G1848R Missense 20/20 - 1
1-27105931-G-T c.5542G>T p.G1848W Missense 20/20 - 1
1-27105932-G-T c.5543G>T p.G1848V Missense 20/20 - 1
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 - 4
1-27105930-T-TG c.5548dup p.D1850Gfs*4 Frameshift 20/20 - 16
1-27105930-TG-T c.5548del p.D1850Tfs*33 Frameshift 20/20 - 17
1-27105937-G-GA c.5549dup p.D1850Efs*4 Frameshift 20/20 - 1
1-27105944-C-A c.5555C>A p.T1852N Missense 20/20 - 1
1-27105945-TGA-T c.5558_5559del p.E1853Afs*47 Frameshift 20/20 - 1
1-27105955-C-T c.5566C>T p.Q1856* Nonsense 20/20 - 1
1-27105961-C-T c.5572C>T p.H1858Y Missense 20/20 - 1
1-27105966-TC-T c.5577del p.F1859Lfs*24 Frameshift 20/20 - 1
1-27105967-G-T c.5578G>T p.E1860* Nonsense 20/20 - 1
1-27105967-G-A c.5578G>A p.E1860K Missense 20/20 - 1
1-27105970-A-T c.5581A>T p.S1861C Missense 20/20 - 1
1-27105975-G-A c.5586G>A p.K1862= Synonymous 20/20 - 1
1-27105987-G-GC c.5600dup p.S1868Ffs*33 Frameshift 20/20 - 1
1-27105994-C-T c.5605C>T p.R1869W Missense 20/20 - 1
1-27105995-G-A c.5606G>A p.R1869Q Missense 20/20 - 2
1-27106000-TCAC-T c.5611_5613del p.H1871del InFrameDeletion 20/20 - 1
1-27106002-C-T c.5613C>T p.H1871= Synonymous 20/20 - 1
1-27106003-G-A c.5614G>A p.A1872T Missense 20/20 - 1
1-27106004-C-T c.5615C>T p.A1872V Missense 20/20 - 1
1-27106007-C-G c.5618C>G p.P1873R Missense 20/20 - 1
1-27106010-G-A c.5621G>A p.C1874Y Missense 20/20 - 1
1-27106012-C-T c.5623C>T p.P1875S Missense 20/20 - 1
1-27106025-G-A c.5636G>A p.R1879Q Missense 20/20 - 1
1-27106031-A-G c.5642A>G p.H1881R Missense 20/20 - 1
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
1-27106045-G-A c.5656G>A p.E1886K Missense 20/20 - 1
1-27106048-G-A c.5659G>A p.G1887S Missense 20/20 - 1
1-27106055-C-T c.5666C>T p.P1889L Missense 20/20 - 1
1-27106058-G-A c.5669G>A p.G1890E Missense 20/20 - 1
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
1-27106069-C-T c.5680C>T p.Q1894* Nonsense 20/20 - 1
1-27106067-A-AC c.5680dup p.Q1894Pfs*7 Frameshift 20/20 - 1
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 - 2
1-27106087-G-T c.5698G>T p.D1900Y Missense 20/20 - 1
1-27106099-G-C c.5710G>C p.E1904Q Missense 20/20 - 1
1-27106100-A-T c.5711A>T p.E1904V Missense 20/20 - 1
1-27106106-G-A c.5717G>A p.R1906Q Missense 20/20 - 5
1-27106106-G-C c.5717G>C p.R1906P Missense 20/20 - 1
1-27106108-A-T c.5719A>T p.I1907F Missense 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
1-27106116-CACTATGGATG-C c.5730_5739del p.M1911Cfs*9 Frameshift 20/20 - 1
1-27106133-T-A c.5744T>A p.L1915* Nonsense 20/20 - 1
1-27106136-C-G c.5747C>G p.S1916C Missense 20/20 - 1
1-27106138-A-G c.5749A>G p.T1917A Missense 20/20 - 1
1-27106150-CA-C c.5761del p.T1921Pfs*2 Frameshift 20/20 - 1
1-27106150-ACCTTGAC-A c.5763_5769del p.L1922Rfs*32 Frameshift 20/20 - 1
1-27106159-G-A c.5770G>A p.E1924K Missense 20/20 - 2
1-27106165-G-T c.5776G>T p.G1926* Nonsense 20/20 - 1
1-27106168-G-C c.5779G>C p.A1927P Missense 20/20 - 2
1-27106171-A-T c.5782A>T p.K1928* Nonsense 20/20 - 1
1-27106173-G-C c.5784G>C p.K1928N Missense 20/20 - 2
1-27106173-G-T c.5784G>T p.K1928N Missense 20/20 - 1
1-27106173-G-GT c.5784_5785insT p.S1929* Nonsense 20/20 - 1
1-27106178-TC-T c.5789del p.S1930* Frameshift 20/20 - 1
1-27106186-A-T c.5797A>T p.I1933F Missense 20/20 - 1
1-27106192-G-T c.5803G>T p.E1935* Nonsense 20/20 - 1
1-27106201-A-G c.5812A>G p.K1938E 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
1-27106207-C-T c.5818C>T p.P1940S Missense 20/20 - 1
1-27106208-C-T c.5819C>T p.P1940L Missense 20/20 - 1
1-27106214-G-A c.5825G>A p.G1942D Missense 20/20 - 1
1-27106215-C-T c.5826C>T p.G1942= Synonymous 20/20 - 1
1-27106215-C-G c.5826C>G p.G1942= Synonymous 20/20 - 1
1-27106215-C-A c.5826C>A p.G1942= Synonymous 20/20 - 1
1-27106223-C-T c.5834C>T p.P1945L Missense 20/20 - 1
1-27106228-C-G c.5839C>G p.Q1947E Missense 20/20 - 1
1-27106230-G-GT c.5841_5842insT p.S1948* Nonsense 20/20 - 1
1-27106230-G-T c.5841G>T p.Q1947H Missense 20/20 - 1
1-27106232-G-A c.5843G>A p.S1948N Missense 20/20 - 2
1-27106235-CA-C c.5846del p.H1949Pfs*7 Frameshift 20/20 - 1
1-27106235-A-G c.5846A>G p.H1949R Missense 20/20 - 1
1-27106237-C-G c.5848C>G p.R1950G Missense 20/20 - 1
1-27106238-G-A c.5849G>A p.R1950Q Missense 20/20 - 1
1-27106248-G-A c.5859G>A p.K1953= Synonymous 20/20 - 1
1-27106249-A-G c.5860A>G p.I1954V Missense 20/20 - 1
1-27106260-C-CT c.5871_5872insT p.E1958* Nonsense 20/20 - 1
1-27106261-G-A c.5872G>A p.E1958K Missense 20/20 - 1
1-27106267-C-T c.5878C>T p.H1960Y Missense 20/20 - 1
1-27106269-CAGTAAGG-C c.5882_5888del p.S1961Mfs*52 Frameshift 20/20 - 1
1-27106273-A-T c.5884A>T p.K1962* Nonsense 20/20 - 1
1-27106276-G-A c.5887G>A p.D1963N Missense 20/20 - 1
1-27106278-T-G c.5889T>G p.D1963E Missense 20/20 - 2
1-27106278-T-A c.5889T>A p.D1963E Missense 20/20 - 1
1-27106279-G-A c.5890G>A p.E1964K Missense 20/20 - 1
1-27106279-G-T c.5890G>T p.E1964* Nonsense 20/20 - 1
1-27106282-A-C c.5893A>C p.T1965P Missense 20/20 - 1
1-27106294-A-G c.5905A>G p.T1969A Missense 20/20 - 1
1-27106297-CCTTCTGG-C c.5908_5914del p.L1970Tfs*43 Frameshift 20/20 - 1
1-27106307-G-A c.5918G>A p.W1973* Nonsense 20/20 - 3
1-27106308-G-A c.5919G>A p.W1973* Nonsense 20/20 - 4
1-27106310-A-T c.5921A>T p.Q1974L Missense 20/20 - 1
1-27106310-AG-A c.5923del p.D1975Ifs*40 Frameshift 20/20 - 1
1-27106316-C-T c.5927C>T p.S1976F Missense 20/20 - 1
1-27106328-G-A c.5939G>A p.R1980H Missense 20/20 - 1
1-27106333-G-A c.5944G>A p.V1982I Missense 20/20 - 6
1-27106337-G-C c.5948G>C p.C1983S Missense 20/20 - 1
1-27106335-CTG-C c.5952_5953del p.S1985Qfs*13 Frameshift 20/20 - 1
1-27106342-T-C c.5953T>C p.S1985P Missense 20/20 - 5
1-27106343-C-G c.5954C>G p.S1985C Missense 20/20 - 1
1-27106354-C-T c.5965C>T p.R1989* Nonsense 20/20 - 30
1-27106354-C-G c.5965C>G p.R1989G Missense 20/20 - 1
1-27106359-C-T c.5970C>T p.S1990= Synonymous 20/20 - 1
1-27106362-G-T c.5973G>T p.L1991= Synonymous 20/20 - 1
1-27106364-C-A c.5975C>A p.S1992* Nonsense 20/20 - 1
1-27106364-C-G c.5975C>G p.S1992* Nonsense 20/20 - 1
1-27106364-C-T c.5975C>T p.S1992L Missense 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 - 1
1-27106378-A-G c.5989A>G p.N1997D Missense 20/20 - 1
1-27106381-G-C c.5992G>C p.D1998H Missense 20/20 - 1
1-27106384-T-TTCCA c.5996_5997insCCAT p.E2000Hfs*2 Frameshift 20/20 - 1
1-27106387-G-C c.5998G>C p.E2000Q Missense 20/20 - 1
1-27106387-G-T c.5998G>T p.E2000* Nonsense 20/20 - 1
1-27106393-TCCAAA-T c.6006_6010del p.K2003Pfs*28 Frameshift 20/20 - 1
1-27106404-AGGGCTGCTGCTCATCCT-A c.6020_6036del p.L2007Qfs*20 Frameshift 20/20 - 1
1-27106406-GGCT-G c.6024_6026del p.L2009del InFrameDeletion 20/20 - 1
1-27106407-GCTGCTGCTCATCCTGGGCAAGCTGATC-G c.6026_6052del p.L2009_L2017del InFrameDeletion 20/20 - 2
1-27106421-T-A c.6032T>A p.L2011Q Missense 20/20 - 1
1-27106423-G-C c.6034G>C p.G2012R Missense 20/20 - 3
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 - 1
1-27106438-C-A c.6049C>A p.L2017M Missense 20/20 - 1
1-27106445-CACAAGCACCCAGAACGGAA-C c.6056_6074del p.H2019Rfs*5 Frameshift 20/20 - 1
1-27106447-A-T c.6058A>T p.K2020* Nonsense 20/20 - 1
1-27106451-A-T c.6062A>T p.H2021L Missense 20/20 - 1
1-27106456-G-T c.6067G>T p.E2023* Nonsense 20/20 - 1
1-27106459-C-T c.6070C>T p.R2024W Missense 20/20 - 2
1-27106465-C-T c.6076C>T p.Q2026* Nonsense 20/20 - 4
1-27106469-C-T c.6080C>T p.A2027V Missense 20/20 - 1
1-27106481-A-TT c.6092delinsTT p.Y2031Ffs*2 Frameshift 20/20 - 1
1-27106479-TTA-T c.6092_6093del p.Y2031* Frameshift 20/20 - 1
1-27106482-T-A c.6093T>A p.Y2031* Nonsense 20/20 - 1
1-27106482-T-G c.6093T>G p.Y2031* Nonsense 20/20 - 1
1-27106483-G-A c.6094G>A p.E2032K Missense 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 - 1
1-27106491-G-A c.6102G>A p.E2034= Synonymous 20/20 - 1
1-27106492-G-T c.6103G>T p.E2035* Nonsense 20/20 - 1
1-27106501-G-A c.6112G>A p.D2038N Missense 20/20 - 1
1-27106504-C-T c.6115C>T p.Q2039* Nonsense 20/20 - 3
1-27106507-G-A c.6118G>A p.G2040R Missense 20/20 - 1
1-27106511-T-C c.6122T>C p.V2041A Missense 20/20 - 2
1-27106519-A-G c.6130A>G p.N2044D Missense 20/20 - 1
1-27106525-GTG-ATC c.6136_6138delinsATC p.V2046I Missense 20/20 - 1
1-27106528-G-T c.6139G>T p.E2047* Nonsense 20/20 - 2
1-27106532-G-A c.6143G>A p.W2048* Nonsense 20/20 - 1
1-27106533-G-A c.6144G>A p.W2048* Nonsense 20/20 - 1
1-27106536-G-A c.6147G>A p.W2049* Nonsense 20/20 - 2
1-27106535-G-A c.6146G>A p.W2049* Nonsense 20/20 - 2
1-27106538-G-A c.6149G>A p.W2050* Nonsense 20/20 - 1
1-27106539-G-A c.6150G>A p.W2050* Nonsense 20/20 - 1
1-27106545-C-A c.6156C>A p.C2052* Nonsense 20/20 - 1
1-27106545-C-CA c.6156_6157insA p.L2053Ifs*46 Frameshift 20/20 - 1
1-27106545-CT-C c.6158del p.L2053Wfs*82 Frameshift 20/20 - 1
1-27106549-G-T c.6160G>T p.E2054* Nonsense 20/20 - 1
1-27106550-GAGATGCTCCGGGAAAACACC-G c.6161_6180del p.E2054Vfs*38 Frameshift 20/20 - 1
1-27106555-C-A c.6166C>A p.L2056I Missense 20/20 - 1
1-27106558-C-T c.6169C>T p.R2057W Missense 20/20 - 1
1-27106563-AAAC-A c.6176_6178del p.N2059del InFrameDeletion 20/20 - 1
1-27106571-T-C c.6182T>C p.L2061S Missense 20/20 - 1
1-27106577-C-G c.6188C>G p.T2063R Missense 20/20 - 1
1-27106579-CTC-TAA c.6190_6192delinsTAA p.L2064* Nonsense 20/20 - 1
1-27106581-C-T c.6192C>T p.L2064= Synonymous 20/20 - 1
1-27106581-C-G c.6192C>G p.L2064= Synonymous 20/20 - 1
1-27106581-C-A c.6192C>A p.L2064= Synonymous 20/20 - 1
1-27106585-A-G c.6196A>G p.N2066D Missense 20/20 - 1
1-27106586-A-G c.6197A>G p.N2066S Missense 20/20 - 1
1-27106589-T-G c.6200T>G p.I2067S Missense 20/20 - 1
1-27106592-C-A c.6203C>A p.S2068* Nonsense 20/20 - 1
1-27106592-CG-C c.6207del p.Q2070Sfs*65 Frameshift 20/20 - 1
1-27106597-C-T c.6208C>T p.Q2070* Nonsense 20/20 - 4
1-27106600-T-C c.6211T>C p.L2071= Synonymous 20/20 - 1
1-27106602-G-A c.6213G>A p.L2071= Synonymous 20/20 - 1
1-27106617-C-G c.6228C>G p.Y2076* Nonsense 20/20 - 1
1-27106617-C-A c.6228C>A p.Y2076* Nonsense 20/20 - 1
1-27106621-G-T c.6232G>T p.E2078* Nonsense 20/20 - 4
1-27106621-G-A c.6232G>A p.E2078K Missense 20/20 - 2
1-27106625-G-T c.6236G>T p.S2079I Missense 20/20 - 1
1-27106640-T-G c.6251T>G p.V2084G Missense 20/20 - 1
1-27106641-C-G c.6252C>G p.V2084= Synonymous 20/20 - 1
1-27106641-C-T c.6252C>T p.V2084= Synonymous 20/20 - 1
1-27106642-C-A c.6253C>A p.L2085M Missense 20/20 - 1
1-27106640-TC-T c.6253del p.L2085Wfs*50 Frameshift 20/20 - 1
1-27106643-T-G c.6254T>G p.L2085R Missense 20/20 - 2
1-27106648-G-T c.6259G>T p.G2087* Nonsense 20/20 - 2
1-27106648-G-A c.6259G>A p.G2087R Missense 20/20 - 14
1-27106648-G-C c.6259G>C p.G2087R Missense 20/20 - 5
1-27106648-GGA-AAC c.6259_6261delinsAAC p.G2087N Missense 20/20 - 1
1-27106649-G-A c.6260G>A p.G2087E Missense 20/20 - 2
1-27106649-G-T c.6260G>T p.G2087V Missense 20/20 - 2
1-27106650-ACTC-A c.6264_6266del p.L2089del InFrameDeletion 20/20 - 1
1-27106655-T-C c.6266T>C p.L2089P Missense 20/20 - 1
1-27106658-A-G c.6269A>G p.H2090R Missense 20/20 - 1
1-27106663-G-C c.6274G>C p.A2092P Missense 20/20 - 1
1-27106664-C-T c.6275C>T p.A2092V Missense 20/20 - 1
1-27106664-C-A c.6275C>A p.A2092E Missense 20/20 - 1
1-27106665-A-T c.6276A>T p.A2092= Synonymous 20/20 - 1
1-27106672-C-T c.6283C>T p.P2095S Missense 20/20 - 1
1-27106676-C-G c.6287C>G p.S2096* Nonsense 20/20 - 1
1-27106687-C-T c.6298C>T p.Q2100* Nonsense 20/20 - 3
1-27106689-G-GT c.6300_6301insT p.D2101* Nonsense 20/20 - 2
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-T c.6304C>T p.P2102S Missense 20/20 - 1
1-27106691-AC-A c.6306del p.S2104Pfs*31 Frameshift 20/20 - 1
1-27106703-C-T c.6314C>T p.T2105I Missense 20/20 - 1
1-27106723-C-T c.6334C>T p.L2112F Missense 20/20 - 1
1-27106726-T-G c.6337T>G p.S2113A Missense 20/20 - 1
1-27106727-C-T c.6338C>T p.S2113F Missense 20/20 - 1
1-27106726-TC-T c.6341del p.P2114Rfs*21 Frameshift 20/20 - 1
1-27106732-C-T c.6343C>T p.Q2115* Nonsense 20/20 - 1
1-27106735-A-T c.6346A>T p.R2116* Nonsense 20/20 - 1
1-27106732-CAG-C c.6347_6348del p.R2116Tfs*33 Frameshift 20/20 - 1
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 - 1
1-27106745-T-C c.6356T>C p.L2119S Missense 20/20 - 1
1-27106747-G-T c.6358G>T p.E2120* Nonsense 20/20 - 1
1-27106748-A-C c.6359A>C p.E2120A Missense 20/20 - 1
1-27106771-C-T c.6382C>T p.Q2128* Nonsense 20/20 - 4
1-27106769-TC-T c.6382del p.Q2128Rfs*7 Frameshift 20/20 - 1
1-27106783-G-A c.6394G>A p.V2132M Missense 20/20 - 1
1-27106784-T-G c.6395T>G p.V2132G Missense 20/20 - 1
1-27106787-AC-A c.6400del p.L2134* Frameshift 20/20 - 1
1-27106788-CCTGATT-C c.6403_6408del p.I2135_L2136del InFrameDeletion 20/20 - 2
1-27106792-A-C c.6403A>C p.I2135L Missense 20/20 - 1
1-27106793-T-A c.6404T>A p.I2135N Missense 20/20 - 1
1-27106795-TCTG-T c.6406_6408del p.L2136del InFrameDeletion 20/20 - 1
1-27106801-CA-C c.6412del p.T2138Hfs*62 Frameshift 20/20 - 1
1-27106801-CACA-C c.6412_6414del p.T2138del InFrameDeletion 20/20 - 1
1-27106807-C-A c.6418C>A p.P2140T Missense 20/20 - 1
1-27106808-C-T c.6419C>T p.P2140L Missense 20/20 - 1
1-27106803-AC-A c.6420del p.F2141Sfs*59 Frameshift 20/20 - 4
1-27106809-CT-C c.6422del p.F2141Sfs*59 Frameshift 20/20 - 1
1-27106812-TC-T c.6423del p.F2141Lfs*59 Frameshift 20/20 - 1
1-27106812-TCAGCCGCC-T c.6423_6430del p.S2142Gfs*5 Frameshift 20/20 - 1
1-27106816-C-T c.6427C>T p.R2143C Missense 20/20 - 1
1-27106817-G-A c.6428G>A p.R2143H Missense 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
1-27106829-T-A c.6440T>A p.L2147* Nonsense 20/20 - 1
1-27106833-T-A c.6444T>A p.Y2148* Nonsense 20/20 - 1
1-27106833-T-G c.6444T>G p.Y2148* Nonsense 20/20 - 1
1-27106846-C-T c.6457C>T p.R2153C Missense 20/20 - 2
1-27106847-G-T c.6458G>T p.R2153L Missense 20/20 - 1
1-27106852-CT-AG c.6463_6464inv p.L2155S Missense 20/20 - 1
1-27106853-T-G c.6464T>G p.L2155R Missense 20/20 - 2
1-27106854-C-T c.6465C>T p.L2155= Synonymous 20/20 - 1
1-27106854-C-G c.6465C>G p.L2155= Synonymous 20/20 - 1
1-27106854-C-A c.6465C>A p.L2155= Synonymous 20/20 - 1
1-27106858-G-T c.6469G>T p.D2157Y Missense 20/20 - 1
1-27106861-C-T c.6472C>T p.R2158* Nonsense 20/20 - 4
1-27106861-C-G c.6472C>G p.R2158G Missense 20/20 - 1
1-27106862-G-A c.6473G>A p.R2158Q Missense 20/20 - 1
1-27106862-GAAAGA-G c.6475_6479del p.K2159Pfs*64 Frameshift 20/20 - 1
1-27106861-CGAAA-C c.6476_6479del p.K2159Tfs*40 Frameshift 20/20 - 1
1-27106879-CG-TA c.6490_6491delinsTA p.R2164* Missense 20/20 - 1
1-27106882-G-T c.6493G>T p.E2165* Nonsense 20/20 - 2
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
1-27106901-T-C c.6512T>C p.L2171P Missense 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 - 1
1-27106915-C-T c.6526C>T p.Q2176* Nonsense 20/20 - 1
1-27106916-CAG-C c.6527_6528del p.Q2176Rfs*48 Frameshift 20/20 - 2
1-27106920-G-GT c.6531_6532insT p.D2178* Nonsense 20/20 - 1
1-27106916-AG-A c.6532del p.D2178Tfs*22 Frameshift 20/20 - 1
1-27106929-TGGCAGCTCGTG-T c.6540_6550del p.A2181Hfs*40 Frameshift 20/20 - 1
1-27106928-TG-T c.6541del p.A2181Qfs*19 Frameshift 20/20 - 1
1-27106934-C-A c.6545C>A p.A2182D Missense 20/20 - 1
1-27106936-C-T c.6547C>T p.R2183C Missense 20/20 - 1
1-27106940-C-T c.6551C>T p.A2184V Missense 20/20 - 1
1-27106954-A-T c.6565A>T p.K2189* Nonsense 20/20 - 1
1-27106958-G-C c.6569G>C p.G2190A Missense 20/20 - 1
1-27106956-GGGCAGTATC-G c.6572_6580del p.S2191_G2193del InFrameDeletion 20/20 - 1
1-27106971-C-T c.6582C>T p.N2194= Synonymous 20/20 - 1
1-27106973-T-G c.6584T>G p.L2195R Missense 20/20 - 1
1-27106986-TA-T c.6597del p.E2200Rfs*31 Frameshift 20/20 - 1
1-27106988-A-AG c.6601dup p.D2201Gfs*24 Frameshift 20/20 - 1
1-27107002-G-A c.6613G>A p.A2205T Missense 20/20 - 1
1-27107009-A-G c.6620A>G p.Q2207R Missense 20/20 - 1
1-27107012-TC-T c.6625del p.Q2209Sfs*22 Frameshift 20/20 - 1
1-27107014-C-T c.6625C>T p.Q2209* Nonsense 20/20 - 1
1-27107027-C-T c.6638C>T p.A2213V Missense 20/20 - 1
1-27107035-C-T c.6646C>T p.L2216F Missense 20/20 - 1
1-27107043-G-C c.6654G>C p.M2218I Missense 20/20 - 1
1-27107048-A-G c.6659A>G p.N2220S Missense 20/20 - 2
1-27107059-G-C c.6670G>C p.E2224Q Missense 20/20 - 1
1-27107076-C-A c.6687C>A p.D2229E Missense 20/20 - 1
1-27107083-C-T c.6694C>T p.R2232W Missense 20/20 - 2
1-27107084-G-A c.6695G>A p.R2232Q Missense 20/20 - 1
1-27107084-CGGCGGGCTGCCCG-C c.6695_6707del p.R2232Pfs*31 Frameshift 20/20 - 1
1-27107084-G-T c.6695G>T p.R2232L Missense 20/20 - 1
1-27107086-C-T c.6697C>T p.R2233W Missense 20/20 - 1
1-27107086-CGGGCT-C c.6699_6703del p.A2234Pfs*42 Frameshift 20/20 - 1
1-27107090-C-T c.6701C>T p.A2234V Missense 20/20 - 1
1-27107091-CT-C c.6702del p.A2235Pfs*32 Frameshift 20/20 - 1
1-27107095-C-T c.6706C>T p.R2236C Missense 20/20 - 1
1-27107095-C-A c.6706C>A p.R2236S Missense 20/20 - 1
1-27107096-G-A c.6707G>A p.R2236H Missense 20/20 - 1
1-27107098-G-A c.6709G>A p.A2237T Missense 20/20 - 1
1-27107099-C-CT c.6710_6711insT p.L2238Afs*40 Frameshift 20/20 - 1
1-27107105-T-C c.6716T>C p.L2239P Missense 20/20 - 1
1-27107106-T-TG c.6718dup p.A2240Gfs*38 Frameshift 20/20 - 1
1-27107107-G-GC c.6720dup p.A2242Gfs*36 Frameshift 20/20 - 1
1-27107114-C-A c.6725C>A p.A2242D Missense 20/20 - 1
1-27107119-G-T c.6730G>T p.V2244L Missense 20/20 - 1
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 - 1
1-27107124-C-T c.6735C>T p.D2245= Synonymous 20/20 - 1
1-27107135-C-T c.6746C>T p.S2249L Missense 20/20 - 1
1-27107136-A-AT c.6747_6748insT p.E2250* Nonsense 20/20 - 1
1-27107135-C-CA c.6747dup p.E2250Rfs*28 Frameshift 20/20 - 1
1-27107137-G-T c.6748G>T p.E2250* Nonsense 20/20 - 1
1-27107137-G-GTA c.6748_6749insTA p.E2250Vfs*18 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
1-27107146-CTGTACGAA-C c.6759_6766del p.Y2254Tfs*21 Frameshift 20/20 - 1
1-27107151-C-G c.6762C>G p.Y2254* Nonsense 20/20 - 3
1-27107151-C-A c.6762C>A p.Y2254* Nonsense 20/20 - 2
1-27107152-G-T c.6763G>T p.E2255* Nonsense 20/20 - 2
1-27107152-G-A c.6763G>A p.E2255K Missense 20/20 - 1
1-27107156-C-A c.6767C>A p.S2256* Nonsense 20/20 - 1
1-27107156-C-G c.6767C>G p.S2256* Nonsense 20/20 - 1
1-27107162-T-TG c.6774dup p.L2259Vfs*19 Frameshift 20/20 - 1
1-27107164-TTGGACATC-T c.6777_6784del p.L2259Ffs*16 Frameshift 20/20 - 1
1-27107174-C-T c.6785C>T p.S2262L Missense 20/20 - 1
1-27107176-G-GA c.6787_6788insA p.V2263Dfs*15 Frameshift 20/20 - 1
1-27107176-G-A c.6787G>A p.V2263I Missense 20/20 - 1
1-27107180-C-G c.6791C>G p.S2264* Nonsense 20/20 - 3
1-27107180-C-T c.6791C>T p.S2264L Missense 20/20 - 2
1-27107180-C-A c.6791C>A p.S2264* Nonsense 20/20 - 1
1-27107183-C-A c.6794C>A p.P2265Q Missense 20/20 - 1
1-27107183-CCGTT-C c.6794_6797del p.P2265Rfs*2 Frameshift 20/20 - 1
1-27107195-C-T c.6806C>T p.S2269L Missense 20/20 - 1
1-27107195-C-A c.6806C>A p.S2269* Nonsense 20/20 - 2
1-27107195-C-G c.6806C>G p.S2269* Nonsense 20/20 - 3
1-27107208-A-T c.6819A>T p.Q2273H Missense 20/20 - 1
1-27107208-A-C c.6819A>C p.Q2273H Missense 20/20 - 1
1-27107209-AGTCATTTGTG-A c.6820_6829del p.V2274Mfs*5 Frameshift 20/20 - 1
1-27107213-T-G c.6824T>G p.I2275S Missense 20/20 - 1
1-27107214-TTG-T c.6828_6829del p.C2276* Frameshift 20/20 - 1
1-27107221-TGTACTGTTTTTGATTGGC-T c.6832_6849del p.V2278_G2283del InFrameDeletion 20/20 - 1
1-27107226-G-GT c.6842dup p.L2281Ffs*104 Frameshift 20/20 - 1
1-27107226-GT-G c.6842del p.L2281* Frameshift 20/20 - 1
1-27107232-G-T c.6843G>T p.L2281F Missense 20/20 - 3
1-27107232-G-C c.6843G>C p.L2281F Missense 20/20 - 1
1-27107237-G-A c.6848G>A p.G2283D Missense 20/20 - 1
1-27107240-A-G c.6851A>G p.Q2284R Missense 20/20 - 1
1-27108245-T-C c.*998T>C - 3-UTRSNV 20/20 - 2