EGFR

EGFR epidermal growth factor receptor

Annotation transcript: NM_005228.5

9568 unique variant annotations were identified in 9049 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
7-55086755-G-C c.-216G>C - 5-UTRSNV 1/28 - 38
7-55086755-G-T c.-216G>T - 5-UTRSNV 1/28 - 38
7-55086780-A-C c.-191A>C - 5-UTRSNV 1/28 - 32
7-55086971-A-G c.1A>G p.M1? Missense 1/28 - 1
7-55086972-ATGCGACCCTCCGGGACGGCCGGGGCAGCGCTCCTGGCGCTGCTGGCTGCGCTCTGCCCG-A c.2_60del p.M1_?20 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion 1/28 - 2
7-55086973-G-A c.3G>A p.M1? Missense 1/28 - 1
7-55086973-G-T c.3G>T p.M1? Missense 1/28 - 1
7-55086974-C-A c.4C>A p.R2= Synonymous 1/28 - 136
7-55086974-C-G c.4C>G p.R2G Missense 1/28 - 1
7-55086974-CGA-ATG c.4_6delinsATG p.R2M Missense 1/28 - 1
7-55086974-CG-GA c.4_5delinsGA p.R2E Missense 1/28 - 1
7-55086974-C-T c.4C>T p.R2* Nonsense 1/28 - 8
7-55086976-A-C c.6A>C p.R2= Synonymous 1/28 - 134
7-55086976-A-G c.6A>G p.R2= Synonymous 1/28 - 134
7-55086976-A-T c.6A>T p.R2= Synonymous 1/28 - 134
7-55086975-G-A c.5G>A p.R2Q Missense 1/28 - 2
7-55086975-G-C c.5G>C p.R2P Missense 1/28 - 1
7-55086975-G-T c.5G>T p.R2L Missense 1/28 - 1
7-55086977-C-A c.7C>A p.P3T Missense 1/28 - 2
7-55086977-C-T c.7C>T p.P3S Missense 1/28 - 1
7-55086978-C-A c.8C>A p.P3H Missense 1/28 - 1
7-55086978-C-T c.8C>T p.P3L Missense 1/28 - 5
7-55086976-A-AC c.9dup p.S4Lfs*33 Frameshift 1/28 - 1
7-55086979-C-A c.9C>A p.P3= Synonymous 1/28 - 9
7-55086979-C-G c.9C>G p.P3= Synonymous 1/28 - 8
7-55086979-C-T c.9C>T p.P3= Synonymous 1/28 - 9
7-55086977-CCCT-C c.10_12del p.S4del InFrameDeletion 1/28 - 1
7-55086980-T-A c.10T>A p.S4T Missense 1/28 - 1
7-55086980-T-C c.10T>C p.S4P Missense 1/28 - 1
7-55086981-CC-GG c.11_12inv p.S4W Missense 1/28 - 1
7-55086981-C-G c.11C>G p.S4C Missense 1/28 - 1
7-55086981-C-T c.11C>T p.S4F Missense 1/28 - 1
7-55086982-C-A c.12C>A p.S4= Synonymous 1/28 - 1
7-55086982-C-T c.12C>T p.S4= Synonymous 1/28 - 1
7-55086983-G-A c.13G>A p.G5R Missense 1/28 - 2
7-55086983-G-C c.13G>C p.G5R Missense 1/28 - 4
7-55086983-GGG-AGC c.13_15delinsAGC p.G5S Missense 1/28 - 1
7-55086984-G-A c.14G>A p.G5E Missense 1/28 - 4
7-55086984-G-C c.14G>C p.G5A Missense 1/28 - 3
7-55086984-G-T c.14G>T p.G5V Missense 1/28 - 1
7-55086985-G-A c.15G>A p.G5= Synonymous 1/28 - 1
7-55086985-G-C c.15G>C p.G5= Synonymous 1/28 - 1
7-55086985-G-T c.15G>T p.G5= Synonymous 1/28 - 1
7-55086987-C-A c.17C>A p.T6K Missense 1/28 - 3
7-55086987-C-T c.17C>T p.T6M Missense 1/28 - 3
7-55086988-G-A c.18G>A p.T6= Synonymous 1/28 - 3
7-55086988-G-C c.18G>C p.T6= Synonymous 1/28 - 2
7-55086988-G-T c.18G>T p.T6= Synonymous 1/28 - 2
7-55086989-G-A c.19G>A p.A7T Missense 1/28 - 4
7-55086989-G-C c.19G>C p.A7P Missense 1/28 - 2
7-55086989-G-T c.19G>T p.A7S Missense 1/28 - 2
7-55086990-C-A c.20C>A p.A7D Missense 1/28 - 1
7-55086990-C-T c.20C>T p.A7V Missense 1/28 - 1
7-55086991-C-A c.21C>A p.A7= Synonymous 1/28 - 3
7-55086991-C-G c.21C>G p.A7= Synonymous 1/28 - 1
7-55086991-CG-T c.21_22delinsT p.A9Qfs*71 Frameshift 1/28 - 1
7-55086991-C-T c.21C>T p.A7= Synonymous 1/28 - 2
7-55086992-G-A c.22G>A p.G8R Missense 1/28 - 4
7-55086992-G-C c.22G>C p.G8R Missense 1/28 - 3
7-55086992-G-T c.22G>T p.G8W Missense 1/28 - 1
7-55086991-C-CGGCCAGCGT c.23_24insCCAGCGTGG p.G8_A9insQRG InFrameInsertion 1/28 - 1
7-55086993-G-T c.23G>T p.G8V Missense 1/28 - 1
7-55086994-G-GTA c.24_25insTA p.A9* Nonsense 1/28 - 1
7-55086995-G-A c.25G>A p.A9T Missense 1/28 - 6
7-55086996-C-A c.26C>A p.A9E Missense 1/28 - 1
7-55086996-C-T c.26C>T p.A9V Missense 1/28 - 1
7-55086997-A-C c.27A>C p.A9= Synonymous 1/28 - 2
7-55086997-A-G c.27A>G p.A9= Synonymous 1/28 - 1
7-55086997-A-T c.27A>T p.A9= Synonymous 1/28 - 1
7-55086997-A-AG c.28dup p.A10Gfs*27 Frameshift 1/28 - 1
7-55086998-G-A c.28G>A p.A10T Missense 1/28 - 6
7-55086998-G-C c.28G>C p.A10P Missense 1/28 - 2
7-55086998-GC-AA c.28_29delinsAA p.A10K Missense 1/28 - 1
7-55086998-GC-AG c.28_29delinsAG p.A10R Missense 1/28 - 1
7-55086998-GC-AT c.28_29delinsAT p.A10M Missense 1/28 - 3
7-55086998-GC-CT c.28_29delinsCT p.A10L Missense 1/28 - 2
7-55086998-GCG-ATC c.28_30delinsATC p.A10I Missense 1/28 - 2
7-55086998-GCG-CAT c.28_30delinsCAT p.A10H Missense 1/28 - 2
7-55086998-GCG-TAT c.28_30delinsTAT p.A10Y Missense 1/28 - 4
7-55086998-GCG-TGT c.28_30delinsTGT p.A10C Missense 1/28 - 8
7-55086998-GCG-TTT c.28_30delinsTTT p.A10F Missense 1/28 - 7
7-55086998-GC-TA c.28_29delinsTA p.A10* Nonsense 1/28 - 3
7-55086998-G-T c.28G>T p.A10S Missense 1/28 - 3
7-55086999-C-A c.29C>A p.A10E Missense 1/28 - 9
7-55086999-C-G c.29C>G p.A10G Missense 1/28 - 2
7-55086999-CG-AC c.29_30delinsAC p.A10D Missense 1/28 - 3
7-55086999-C-T c.29C>T p.A10V Missense 1/28 - 1
7-55087000-G-A c.30G>A p.A10= Synonymous 1/28 - 12
7-55087000-G-C c.30G>C p.A10= Synonymous 1/28 - 11
7-55087000-G-T c.30G>T p.A10= Synonymous 1/28 - 11
7-55087001-C-G c.31C>G p.L11V Missense 1/28 - 1
7-55087001-CT-AG c.31_32inv p.L11S Missense 1/28 - 1
7-55087001-CTC-GAG c.31_33inv p.L11E Missense 1/28 - 1
7-55087001-CT-GA c.31_32delinsGA p.L11D Missense 1/28 - 1
7-55087001-CT-GC c.31_32delinsGC p.L11A Missense 1/28 - 1
7-55087002-T-C c.32T>C p.L11P Missense 1/28 - 1
7-55087003-C-CGGAGCT c.33_34insGGAGCT p.L11_L12insGA InFrameInsertion 1/28 - 1
7-55087003-C-T c.33C>T p.L11= Synonymous 1/28 - 1
7-55086997-AGCGCTCCTGGCGCTGCTGGCT-A c.34_54del p.L12_L18del InFrameDeletion 1/28 - 1
7-55087004-C-A c.34C>A p.L12M Missense 1/28 - 2
7-55087004-CCTG-C c.34_36del p.L12del InFrameDeletion 1/28 - 1
7-55087004-C-T c.34C>T p.L12= Synonymous 1/28 - 2
7-55087004-CT-GC c.34_35delinsGC p.L12A Missense 1/28 - 1
7-55087004-CTG-GAC c.34_36delinsGAC p.L12D Missense 1/28 - 1
7-55087004-CTG-TGT c.34_36delinsTGT p.L12C Missense 1/28 - 1
7-55087005-T-A c.35T>A p.L12Q Missense 1/28 - 2
7-55087005-T-C c.35T>C p.L12P Missense 1/28 - 1
7-55087006-G-A c.36G>A p.L12= Synonymous 1/28 - 1
7-55087006-G-T c.36G>T p.L12= Synonymous 1/28 - 1
7-55087007-G-A c.37G>A p.A13T Missense 1/28 - 10
7-55087007-G-C c.37G>C p.A13P Missense 1/28 - 2
7-55087007-GC-AT c.37_38delinsAT p.A13M Missense 1/28 - 1
7-55087007-GC-CA c.37_38delinsCA p.A13Q Missense 1/28 - 1
7-55087007-GC-CT c.37_38delinsCT p.A13L Missense 1/28 - 3
7-55087007-GCG-ATC c.37_39delinsATC p.A13I Missense 1/28 - 2
7-55087007-GCG-TAT c.37_39delinsTAT p.A13Y Missense 1/28 - 2
7-55087007-GCG-TGT c.37_39delinsTGT p.A13C Missense 1/28 - 6
7-55087007-GCG-TTT c.37_39delinsTTT p.A13F Missense 1/28 - 4
7-55087007-GC-TA c.37_38delinsTA p.A13* Nonsense 1/28 - 1
7-55087007-GC-TG c.37_38delinsTG p.A13W Missense 1/28 - 2
7-55087007-G-T c.37G>T p.A13S Missense 1/28 - 10
7-55087008-C-A c.38C>A p.A13E Missense 1/28 - 3
7-55087008-C-G c.38C>G p.A13G Missense 1/28 - 1
7-55087008-CG-AC c.38_39delinsAC p.A13D Missense 1/28 - 6
7-55087008-C-T c.38C>T p.A13V Missense 1/28 - 7
7-55087009-G-A c.39G>A p.A13= Synonymous 1/28 - 6
7-55087009-G-C c.39G>C p.A13= Synonymous 1/28 - 6
7-55087009-G-T c.39G>T p.A13= Synonymous 1/28 - 5
7-55087010-C-A c.40C>A p.L14M Missense 1/28 - 1
7-55087010-C-T c.40C>T p.L14= Synonymous 1/28 - 1
7-55087010-CT-GA c.40_41delinsGA p.L14E Missense 1/28 - 1
7-55087010-CTG-ATC c.40_42delinsATC p.L14I Missense 1/28 - 1
7-55087010-CT-GC c.40_41delinsGC p.L14A Missense 1/28 - 1
7-55087010-CT-GG c.40_41delinsGG p.L14G Missense 1/28 - 1
7-55087010-CTG-GAC c.40_42delinsGAC p.L14D Missense 1/28 - 1
7-55087010-CTG-TTT c.40_42delinsTTT p.L14F Missense 1/28 - 2
7-55087011-TG-AT c.41_42delinsAT p.L14H Missense 1/28 - 2
7-55087012-G-A c.42G>A p.L14= Synonymous 1/28 - 1
7-55087013-C-A c.43C>A p.L15M Missense 1/28 - 3
7-55087013-C-G c.43C>G p.L15V Missense 1/28 - 1
7-55087013-C-T c.43C>T p.L15= Synonymous 1/28 - 1
7-55087013-CT-GA c.43_44delinsGA p.L15E Missense 1/28 - 2
7-55087013-CTG-ATC c.43_45delinsATC p.L15I Missense 1/28 - 1
7-55087013-CT-GC c.43_44delinsGC p.L15A Missense 1/28 - 1
7-55087013-CT-GG c.43_44delinsGG p.L15G Missense 1/28 - 1
7-55087013-CTG-GAC c.43_45delinsGAC p.L15D Missense 1/28 - 1
7-55087013-CTG-TTT c.43_45delinsTTT p.L15F Missense 1/28 - 1
7-55087014-T-C c.44T>C p.L15P Missense 1/28 - 2
7-55087014-TG-AT c.44_45delinsAT p.L15H Missense 1/28 - 1
7-55087015-G-A c.45G>A p.L15= Synonymous 1/28 - 1
7-55087016-G-A c.46G>A p.A16T Missense 1/28 - 3
7-55087016-G-C c.46G>C p.A16P Missense 1/28 - 1
7-55087016-GC-AA c.46_47delinsAA p.A16N Missense 1/28 - 1
7-55087016-GC-AT c.46_47delinsAT p.A16I Missense 1/28 - 1
7-55087016-GC-CA c.46_47delinsCA p.A16H Missense 1/28 - 3
7-55087016-GC-CG c.46_47delinsCG p.A16R Missense 1/28 - 3
7-55087016-GC-CT c.46_47delinsCT p.A16L Missense 1/28 - 2
7-55087016-GC-TA c.46_47delinsTA p.A16Y Missense 1/28 - 3
7-55087016-GCT-CAA c.46_48delinsCAA p.A16Q Missense 1/28 - 2
7-55087016-GC-TT c.46_47delinsTT p.A16F Missense 1/28 - 3
7-55087016-GCT-TAA c.46_48delinsTAA p.A16* Nonsense 1/28 - 1
7-55087016-GCT-TGG c.46_48delinsTGG p.A16W Missense 1/28 - 1
7-55087016-G-T c.46G>T p.A16S Missense 1/28 - 2
7-55087017-C-A c.47C>A p.A16D Missense 1/28 - 8
7-55087017-C-G c.47C>G p.A16G Missense 1/28 - 4
7-55087017-C-T c.47C>T p.A16V Missense 1/28 - 9
7-55087017-CT-AG c.47_48inv p.A16E Missense 1/28 - 3
7-55087018-T-A c.48T>A p.A16= Synonymous 1/28 - 5
7-55087018-T-C c.48T>C p.A16= Synonymous 1/28 - 5
7-55087018-T-G c.48T>G p.A16= Synonymous 1/28 - 5
7-55087019-G-A c.49G>A p.A17T Missense 1/28 - 3
7-55087019-GC-AA c.49_50delinsAA p.A17K Missense 1/28 - 1
7-55087019-GC-AG c.49_50delinsAG p.A17R Missense 1/28 - 2
7-55087019-GC-CA c.49_50delinsCA p.A17Q Missense 1/28 - 2
7-55087019-GC-CT c.49_50delinsCT p.A17L Missense 1/28 - 1
7-55087019-GCG-AAC c.49_51delinsAAC p.A17N Missense 1/28 - 1
7-55087019-GCG-TAT c.49_51delinsTAT p.A17Y Missense 1/28 - 2
7-55087019-GCG-TGT c.49_51delinsTGT p.A17C Missense 1/28 - 1
7-55087019-GCG-TTT c.49_51delinsTTT p.A17F Missense 1/28 - 2
7-55087019-GC-TA c.49_50delinsTA p.A17* Nonsense 1/28 - 8
7-55087019-GC-TG c.49_50delinsTG p.A17W Missense 1/28 - 2
7-55087019-G-T c.49G>T p.A17S Missense 1/28 - 2
7-55087020-C-A c.50C>A p.A17E Missense 1/28 - 4
7-55087020-C-G c.50C>G p.A17G Missense 1/28 - 2
7-55087020-CG-AC c.50_51delinsAC p.A17D Missense 1/28 - 3
7-55087020-C-T c.50C>T p.A17V Missense 1/28 - 6
7-55087021-G-A c.51G>A p.A17= Synonymous 1/28 - 2
7-55087021-G-T c.51G>T p.A17= Synonymous 1/28 - 1
7-55087022-C-A c.52C>A p.L18I Missense 1/28 - 9
7-55087022-C-G c.52C>G p.L18V Missense 1/28 - 1
7-55087022-C-T c.52C>T p.L18F Missense 1/28 - 7
7-55087022-CT-GC c.52_53delinsGC p.L18A Missense 1/28 - 3
7-55087023-T-A c.53T>A p.L18H Missense 1/28 - 1
7-55087023-T-G c.53T>G p.L18R Missense 1/28 - 2
7-55087024-C-A c.54C>A p.L18= Synonymous 1/28 - 1
7-55087024-C-T c.54C>T p.L18= Synonymous 1/28 - 1
7-55087025-T-A c.55T>A p.C19S Missense 1/28 - 2
7-55087025-T-C c.55T>C p.C19R Missense 1/28 - 1
7-55087025-T-G c.55T>G p.C19G Missense 1/28 - 1
7-55087025-TG-AC c.55_56delinsAC p.C19T Missense 1/28 - 2
7-55087025-TG-CA c.55_56inv p.C19H Missense 1/28 - 3
7-55087025-TGC-ATG c.55_57delinsATG p.C19M Missense 1/28 - 1
7-55087025-TGC-GAG c.55_57delinsGAG p.C19E Missense 1/28 - 1
7-55087025-TG-GC c.55_56delinsGC p.C19A Missense 1/28 - 2
7-55087026-G-C c.56G>C p.C19S Missense 1/28 - 4
7-55087026-G-A c.56G>A p.C19Y Missense 1/28 - 2
7-55087026-G-T c.56G>T p.C19F Missense 1/28 - 2
7-55087027-C-A c.57C>A p.C19* Nonsense 1/28 - 5
7-55087027-C-T c.57C>T p.C19= Synonymous 1/28 - 4
7-55087028-C-A c.58C>A p.P20T Missense 1/28 - 3
7-55087028-CC-AA c.58_59delinsAA p.P20K Missense 1/28 - 1
7-55087028-CC-GA c.58_59delinsGA p.P20E Missense 1/28 - 1
7-55087028-CCG-GAC c.58_60delinsGAC p.P20D Missense 1/28 - 2
7-55087028-CCG-TGT c.58_60delinsTGT p.P20C Missense 1/28 - 1
7-55087028-CC-TA c.58_59delinsTA p.P20* Nonsense 1/28 - 1
7-55087028-C-T c.58C>T p.P20S Missense 1/28 - 4
7-55087029-C-A c.59C>A p.P20Q Missense 1/28 - 12
7-55087029-C-G c.59C>G p.P20R Missense 1/28 - 1
7-55087029-C-T c.59C>T p.P20L Missense 1/28 - 8
7-55087030-G-A c.60G>A p.P20= Synonymous 1/28 - 3
7-55087030-G-C c.60G>C p.P20= Synonymous 1/28 - 2
7-55087030-GGC-AG c.60_62delinsAG p.A21Gfs*59 Frameshift 1/28 - 1
7-55087030-G-T c.60G>T p.P20= Synonymous 1/28 - 1
7-55087031-G-A c.61G>A p.A21T Missense 1/28 - 10
7-55087031-G-C c.61G>C p.A21P Missense 1/28 - 1
7-55087031-GC-AG c.61_62delinsAG p.A21R Missense 1/28 - 1
7-55087031-GC-CA c.61_62delinsCA p.A21Q Missense 1/28 - 2
7-55087031-GC-CT c.61_62delinsCT p.A21L Missense 1/28 - 1
7-55087031-GCG-TGT c.61_63delinsTGT p.A21C Missense 1/28 - 1
7-55087031-GCG-TTT c.61_63delinsTTT p.A21F Missense 1/28 - 3
7-55087031-G-T c.61G>T p.A21S Missense 1/28 - 3
7-55087032-C-A c.62C>A p.A21E Missense 1/28 - 5
7-55087032-CG-AC c.62_63delinsAC p.A21D Missense 1/28 - 2
7-55087032-C-T c.62C>T p.A21V Missense 1/28 - 3
7-55087033-G-A c.63G>A p.A21= Synonymous 1/28 - 7
7-55087033-G-C c.63G>C p.A21= Synonymous 1/28 - 6
7-55087033-G-T c.63G>T p.A21= Synonymous 1/28 - 6
7-55087034-A-G c.64A>G p.S22G Missense 1/28 - 1
7-55087034-AG-CC c.64_65delinsCC p.S22P Missense 1/28 - 1
7-55087034-AG-CT c.64_65inv p.S22L Missense 1/28 - 1
7-55087034-AG-GA c.64_65delinsGA p.S22D Missense 1/28 - 3
7-55087034-AG-GC c.64_65delinsGC p.S22A Missense 1/28 - 3
7-55087034-AG-TA c.64_65delinsTA p.S22Y Missense 1/28 - 1
7-55087034-AGT-GAG c.64_66delinsGAG p.S22E Missense 1/28 - 1
7-55087034-AG-TT c.64_65delinsTT p.S22F Missense 1/28 - 1
7-55087034-A-T c.64A>T p.S22C Missense 1/28 - 3
7-55087034-GAGTC-G c.64_67del p.S22Gfs*57 Frameshift 1/28 - 1
7-55087033-GAGTCGGGCTCTGGAGGA-G c.65_81del p.S22Kfs*9 Frameshift 1/28 - 1
7-55087035-AG-A c.65del p.S22Ifs*58 Frameshift 1/28 - 1
7-55087035-G-A c.65G>A p.S22N Missense 1/28 - 9
7-55087035-G-T c.65G>T p.S22I Missense 1/28 - 4
7-55087035-GT-TG c.65_66delinsTG p.S22M Missense 1/28 - 1
7-55087034-A-C c.64A>C p.S22R Missense 1/28 - 3
7-55087036-GT-G c.66del p.R23Gfs*57 Frameshift 1/28 - 1
7-55087036-T-A c.66T>A p.S22R Missense 1/28 - 3
7-55087036-T-G c.66T>G p.S22R Missense 1/28 - 3
7-55087037-C-A c.67C>A p.R23= Synonymous 1/28 - 1
7-55087037-C-G c.67C>G p.R23G Missense 1/28 - 2
7-55087037-CG-AT c.67_68delinsAT p.R23M Missense 1/28 - 1
7-55087037-CGG-ATC c.67_69delinsATC p.R23I Missense 1/28 - 1
7-55087037-CG-GC c.67_68delinsGC p.R23A Missense 1/28 - 1
7-55087037-CGG-TGT c.67_69delinsTGT p.R23C Missense 1/28 - 2
7-55087037-CGG-TTT c.67_69delinsTTT p.R23F Missense 1/28 - 1
7-55087037-C-T c.67C>T p.R23W Missense 1/28 - 10
7-55087039-G-T c.69G>T p.R23= Synonymous 1/28 - 1
7-55087038-G-A c.68G>A p.R23Q Missense 1/28 - 2
7-55087038-GG-AT c.68_69delinsAT p.R23H Missense 1/28 - 1
7-55087038-G-T c.68G>T p.R23L Missense 1/28 - 1
7-55087040-G-A c.70G>A p.A24T Missense 1/28 - 7
7-55087040-G-C c.70G>C p.A24P Missense 1/28 - 6
7-55087040-GC-AA c.70_71delinsAA p.A24N Missense 1/28 - 3
7-55087040-GC-CA c.70_71delinsCA p.A24H Missense 1/28 - 5
7-55087040-GC-CG c.70_71delinsCG p.A24R Missense 1/28 - 4
7-55087040-GC-CT c.70_71delinsCT p.A24L Missense 1/28 - 3
7-55087040-GCT-AAG c.70_72delinsAAG p.A24K Missense 1/28 - 3
7-55087040-GCT-ATG c.70_72delinsATG p.A24M Missense 1/28 - 4
7-55087040-GCT-CAA c.70_72delinsCAA p.A24Q Missense 1/28 - 3
7-55087040-GC-TG c.70_71delinsTG p.A24C Missense 1/28 - 5
7-55087040-GC-TT c.70_71delinsTT p.A24F Missense 1/28 - 3
7-55087040-GCT-TAA c.70_72delinsTAA p.A24* Nonsense 1/28 - 5
7-55087040-GCT-TGG c.70_72delinsTGG p.A24W Missense 1/28 - 3
7-55087040-G-T c.70G>T p.A24S Missense 1/28 - 7
7-55087041-C-A c.71C>A p.A24D Missense 1/28 - 8
7-55087041-C-G c.71C>G p.A24G Missense 1/28 - 2
7-55087041-C-T c.71C>T p.A24V Missense 1/28 - 4
7-55087041-CT-AG c.71_72inv p.A24E Missense 1/28 - 2
7-55087042-T-A c.72T>A p.A24= Synonymous 1/28 - 8
7-55087042-T-C c.72T>C p.A24= Synonymous 1/28 - 8
7-55087042-T-G c.72T>G p.A24= Synonymous 1/28 - 8
7-55087043-C-G c.73C>G p.L25V Missense 1/28 - 1
7-55087043-C-T c.73C>T p.L25= Synonymous 1/28 - 4
7-55087043-CTG-ATC c.73_75delinsATC p.L25I Missense 1/28 - 1
7-55087043-CTG-TGT c.73_75delinsTGT p.L25C Missense 1/28 - 1
7-55087043-CTG-TTT c.73_75delinsTTT p.L25F Missense 1/28 - 1
7-55087043-CT-TC c.73_74delinsTC p.L25S Missense 1/28 - 1
7-55087044-CT-C c.74del p.L25Rfs*55 Frameshift 1/28 - 1
7-55087044-T-A c.74T>A p.L25Q Missense 1/28 - 1
7-55087044-T-C c.74T>C p.L25P Missense 1/28 - 1
7-55087044-T-G c.74T>G p.L25R Missense 1/28 - 1
7-55087045-G-A c.75G>A p.L25= Synonymous 1/28 - 1
7-55087046-G-A c.76G>A p.E26K Missense 1/28 - 3
7-55087046-GAG-TGT c.76_78delinsTGT p.E26C Missense 1/28 - 2
7-55087046-G-C c.76G>C p.E26Q Missense 1/28 - 2
7-55087046-G-T c.76G>T p.E26* Nonsense 1/28 - 1
7-55087047-A-C c.77A>C p.E26A Missense 1/28 - 1
7-55087047-A-T c.77A>T p.E26V Missense 1/28 - 1
7-55087048-G-A c.78G>A p.E26= Synonymous 1/28 - 1
7-55087048-G-C c.78G>C p.E26D Missense 1/28 - 2
7-55087048-G-T c.78G>T p.E26D Missense 1/28 - 3
7-55087049-G-A c.79G>A p.E27K Missense 1/28 - 2
7-55087049-GAA-TTT c.79_81delinsTTT p.E27F Missense 1/28 - 1
7-55087049-G-C c.79G>C p.E27Q Missense 1/28 - 2
7-55087050-A-C c.80A>C p.E27A Missense 1/28 - 2
7-55087051-A-AGGC c.81_82insGGC p.E27_K28insG InFrameInsertion 1/28 - 1
7-55087052-AA-CT c.82_83delinsCT p.K28L Missense 1/28 - 1
7-55087052-AA-GC c.82_83delinsGC p.K28A Missense 1/28 - 1
7-55087052-AAG-TAT c.82_84delinsTAT p.K28Y Missense 1/28 - 1
7-55087052-A-C c.82A>C p.K28Q Missense 1/28 - 2
7-55087053-A-C c.83A>C p.K28T Missense 1/28 - 2
7-55087053-A-G c.83A>G p.K28R Missense 1/28 - 3
7-55087053-AG-TC c.83_84delinsTC p.K28I Missense 1/28 - 2
7-55087053-A-T c.83A>T p.K28M Missense 1/28 - 12
7-55087054-G-C c.84G>C p.K28N Missense 1/28 - 4
7-55087054-G-T c.84G>T p.K28N Missense 1/28 - 6
7-55087055-AA-GC c.85_86delinsGC p.K29A Missense 1/28 - 1
7-55087056-A-C c.86A>C p.K29T Missense 1/28 - 2
7-55087056-A-G c.86A>G p.K29R Missense 1/28 - 8
7-55087058-G-A c.88G>A p.V30I Missense 1/28 - 3
7-55087058-G-C c.88G>C p.V30L Missense 1/28 - 2
7-55087058-G-T c.88G>T p.V30F Missense 1/28 - 1
7-55087059-G-A c.88+1G>A - IntronicSNV - 1/27 1
7-55087060-T-A c.88+2T>A - IntronicSNV - 1/27 1
7-55087060-T-C c.88+2T>C - IntronicSNV - 1/27 2
7-55087062-A-G c.88+4A>G - IntronicSNV - 1/27 1
7-55087063-G-A c.88+5G>A - IntronicSNV - 1/27 1
7-55087066-C-A c.88+8C>A - IntronicSNV - 1/27 1
7-55087066-C-T c.88+8C>T - IntronicSNV - 1/27 1
7-55087067-G-A c.88+9G>A - IntronicSNV - 1/27 1
7-55087067-G-T c.88+9G>T - IntronicSNV - 1/27 1
7-55087071-C-T c.88+13C>T - IntronicSNV - 1/27 1
7-55087089-G-A c.88+31G>A - IntronicSNV - 1/27 1
7-55087119-C-A c.88+61C>A - IntronicSNV - 1/27 1
7-55087121-G-C c.88+63G>C - IntronicSNV - 1/27 2
7-55087138-C-G c.88+80C>G - IntronicSNV - 1/27 1
7-55087139-G-T c.88+81G>T - IntronicSNV - 1/27 5
7-55087144-G-A c.88+86G>A - IntronicSNV - 1/27 1
7-55087160-C-T c.88+102C>T - IntronicSNV - 1/27 1
7-55087625-C-T c.88+567C>T - IntronicSNV - 1/27 1
7-55088345-G-C c.88+1287G>C - IntronicSNV - 1/27 1
7-55088345-G-T c.88+1287G>T - IntronicSNV - 1/27 1
7-55088415-T-C c.88+1357T>C - IntronicSNV - 1/27 6
7-55088508-T-C c.88+1450T>C - IntronicSNV - 1/27 2
7-55088998-G-A c.88+1940G>A - IntronicSNV - 1/27 1
7-55089451-A-T c.88+2393A>T - IntronicSNV - 1/27 1
7-55089623-C-T c.88+2565C>T - IntronicSNV - 1/27 1
7-55089831-A-G c.88+2773A>G - IntronicSNV - 1/27 1
7-55089963-C-A c.88+2905C>A - IntronicSNV - 1/27 2
7-55089963-C-G c.88+2905C>G - IntronicSNV - 1/27 2
7-55090000-C-G c.88+2942C>G - IntronicSNV - 1/27 1
7-55090000-C-T c.88+2942C>T - IntronicSNV - 1/27 1
7-55090023-G-A c.88+2965G>A - IntronicSNV - 1/27 1
7-55090048-T-C c.88+2990T>C - IntronicSNV - 1/27 1
7-55090379-T-C c.88+3321T>C - IntronicSNV - 1/27 5
7-55090397-G-A c.88+3339G>A - IntronicSNV - 1/27 1
7-55090413-G-A c.88+3355G>A - IntronicSNV - 1/27 1
7-55090600-G-T c.88+3542G>T - IntronicSNV - 1/27 1
7-55090708-G-A c.88+3650G>A - IntronicSNV - 1/27 1
7-55091299-G-A c.88+4241G>A - IntronicSNV - 1/27 1
7-55091299-G-T c.88+4241G>T - IntronicSNV - 1/27 1
7-55091318-C-G c.88+4260C>G - IntronicSNV - 1/27 1
7-55091318-C-T c.88+4260C>T - IntronicSNV - 1/27 1
7-55091451-C-T c.88+4393C>T - IntronicSNV - 1/27 1
7-55091774-T-G c.88+4716T>G - IntronicSNV - 1/27 1
7-55092322-T-C c.88+5264T>C - IntronicSNV - 1/27 1
7-55093789-A-G c.88+6731A>G - IntronicSNV - 1/27 1
7-55093815-T-C c.88+6757T>C - IntronicSNV - 1/27 1
7-55093815-T-G c.88+6757T>G - IntronicSNV - 1/27 1
7-55093887-A-G c.88+6829A>G - IntronicSNV - 1/27 1
7-55094263-T-C c.88+7205T>C - IntronicSNV - 1/27 1
7-55094331-C-T c.88+7273C>T - IntronicSNV - 1/27 1
7-55094343-G-A c.88+7285G>A - IntronicSNV - 1/27 1
7-55094576-A-C c.88+7518A>C - IntronicSNV - 1/27 1
7-55094576-A-G c.88+7518A>G - IntronicSNV - 1/27 1
7-55094705-G-A c.88+7647G>A - IntronicSNV - 1/27 1
7-55094988-G-A c.88+7930G>A - IntronicSNV - 1/27 1
7-55095197-A-G c.88+8139A>G - IntronicSNV - 1/27 18
7-55097191-G-C c.88+10133G>C - IntronicSNV - 1/27 1
7-55097762-G-T c.88+10704G>T - IntronicSNV - 1/27 1
7-55097774-A-G c.88+10716A>G - IntronicSNV - 1/27 2
7-55098150-G-A c.88+11092G>A - IntronicSNV - 1/27 1
7-55098289-T-C c.88+11231T>C - IntronicSNV - 1/27 1
7-55098344-A-G c.88+11286A>G - IntronicSNV - 1/27 1
7-55098663-T-C c.88+11605T>C - IntronicSNV - 1/27 1
7-55099197-G-A c.88+12139G>A - IntronicSNV - 1/27 1
7-55099290-A-T c.88+12232A>T - IntronicSNV - 1/27 1
7-55099394-A-C c.88+12336A>C - IntronicSNV - 1/27 1
7-55099455-G-A c.88+12397G>A - IntronicSNV - 1/27 1
7-55099455-G-T c.88+12397G>T - IntronicSNV - 1/27 1
7-55099834-T-C c.88+12776T>C - IntronicSNV - 1/27 1
7-55099836-C-T c.88+12778C>T - IntronicSNV - 1/27 1
7-55099973-T-C c.88+12915T>C - IntronicSNV - 1/27 1
7-55100123-G-T c.88+13065G>T - IntronicSNV - 1/27 1
7-55100743-A-C c.88+13685A>C - IntronicSNV - 1/27 1
7-55100743-A-G c.88+13685A>G - IntronicSNV - 1/27 1
7-55101285-C-A c.88+14227C>A - IntronicSNV - 1/27 1
7-55101285-C-G c.88+14227C>G - IntronicSNV - 1/27 1
7-55101501-G-C c.88+14443G>C - IntronicSNV - 1/27 4
7-55101501-G-T c.88+14443G>T - IntronicSNV - 1/27 4
7-55101592-A-G c.88+14534A>G - IntronicSNV - 1/27 1
7-55101680-T-C c.88+14622T>C - IntronicSNV - 1/27 1
7-55101720-A-G c.88+14662A>G - IntronicSNV - 1/27 1
7-55101988-C-A c.88+14930C>A - IntronicSNV - 1/27 1
7-55101988-C-G c.88+14930C>G - IntronicSNV - 1/27 1
7-55102337-C-A c.88+15279C>A - IntronicSNV - 1/27 1
7-55102337-C-T c.88+15279C>T - IntronicSNV - 1/27 1
7-55102519-C-T c.88+15461C>T - IntronicSNV - 1/27 1
7-55102541-G-A c.88+15483G>A - IntronicSNV - 1/27 1
7-55102541-G-T c.88+15483G>T - IntronicSNV - 1/27 1
7-55103093-A-T c.88+16035A>T - IntronicSNV - 1/27 1
7-55103199-T-A c.88+16141T>A - IntronicSNV - 1/27 1
7-55103199-T-C c.88+16141T>C - IntronicSNV - 1/27 1
7-55104061-G-A c.88+17003G>A - IntronicSNV - 1/27 1
7-55104515-C-G c.88+17457C>G - IntronicSNV - 1/27 1
7-55104515-C-T c.88+17457C>T - IntronicSNV - 1/27 1
7-55105176-G-A c.88+18118G>A - IntronicSNV - 1/27 1
7-55105176-G-C c.88+18118G>C - IntronicSNV - 1/27 1
7-55105275-G-A c.88+18217G>A - IntronicSNV - 1/27 1
7-55105320-A-G c.88+18262A>G - IntronicSNV - 1/27 3
7-55105349-A-C c.88+18291A>C - IntronicSNV - 1/27 1
7-55106310-T-C c.88+19252T>C - IntronicSNV - 1/27 1
7-55106421-CTG-C c.88+19377_88+19378del - IntronicDeletion - 1/27 1
7-55106610-C-T c.88+19552C>T - IntronicSNV - 1/27 1
7-55107056-T-C c.88+19998T>C - IntronicSNV - 1/27 1
7-55107056-T-G c.88+19998T>G - IntronicSNV - 1/27 1
7-55107196-G-A c.88+20138G>A - IntronicSNV - 1/27 1
7-55107469-G-A c.88+20411G>A - IntronicSNV - 1/27 1
7-55107541-G-A c.88+20483G>A - IntronicSNV - 1/27 1
7-55107541-G-T c.88+20483G>T - IntronicSNV - 1/27 1
7-55108055-A-G c.88+20997A>G - IntronicSNV - 1/27 1
7-55108717-A-G c.88+21659A>G - IntronicSNV - 1/27 1
7-55108730-G-C c.88+21672G>C - IntronicSNV - 1/27 1
7-55108832-T-A c.88+21774T>A - IntronicSNV - 1/27 1
7-55108832-T-G c.88+21774T>G - IntronicSNV - 1/27 1
7-55108853-C-T c.88+21795C>T - IntronicSNV - 1/27 1
7-55108994-T-C c.88+21936T>C - IntronicSNV - 1/27 1
7-55109003-C-T c.88+21945C>T - IntronicSNV - 1/27 1
7-55109004-G-A c.88+21946G>A - IntronicSNV - 1/27 1
7-55109052-C-T c.88+21994C>T - IntronicSNV - 1/27 1
7-55109176-C-T c.88+22118C>T - IntronicSNV - 1/27 1
7-55109177-A-T c.88+22119A>T - IntronicSNV - 1/27 6
7-55109182-G-A c.88+22124G>A - IntronicSNV - 1/27 1
7-55109545-T-A c.88+22487T>A - IntronicSNV - 1/27 1
7-55109711-G-A c.88+22653G>A - IntronicSNV - 1/27 1
7-55110424-A-G c.88+23366A>G - IntronicSNV - 1/27 1
7-55110452-G-A c.88+23394G>A - IntronicSNV - 1/27 1
7-55110452-G-C c.88+23394G>C - IntronicSNV - 1/27 1
7-55110460-G-A c.88+23402G>A - IntronicSNV - 1/27 1
7-55110460-G-C c.88+23402G>C - IntronicSNV - 1/27 1
7-55110460-G-T c.88+23402G>T - IntronicSNV - 1/27 1
7-55110669-T-A c.88+23611T>A - IntronicSNV - 1/27 1
7-55110755-T-A c.88+23697T>A - IntronicSNV - 1/27 1
7-55110809-G-A c.88+23751G>A - IntronicSNV - 1/27 1
7-55110809-G-C c.88+23751G>C - IntronicSNV - 1/27 1
7-55110828-C-T c.88+23770C>T - IntronicSNV - 1/27 1
7-55110897-G-A c.88+23839G>A - IntronicSNV - 1/27 1
7-55111806-G-A c.88+24748G>A - IntronicSNV - 1/27 1
7-55111806-G-T c.88+24748G>T - IntronicSNV - 1/27 1
7-55112037-A-G c.88+24979A>G - IntronicSNV - 1/27 1
7-55112037-A-T c.88+24979A>T - IntronicSNV - 1/27 1
7-55112112-T-C c.88+25054T>C - IntronicSNV - 1/27 1
7-55112410-G-A c.88+25352G>A - IntronicSNV - 1/27 2
7-55112410-G-C c.88+25352G>C - IntronicSNV - 1/27 2
7-55112426-G-A c.88+25368G>A - IntronicSNV - 1/27 1
7-55112426-G-C c.88+25368G>C - IntronicSNV - 1/27 1
7-55112426-G-T c.88+25368G>T - IntronicSNV - 1/27 1
7-55112698-G-A c.88+25640G>A - IntronicSNV - 1/27 1
7-55112827-G-A c.88+25769G>A - IntronicSNV - 1/27 2
7-55112827-G-C c.88+25769G>C - IntronicSNV - 1/27 2
7-55112959-T-A c.88+25901T>A - IntronicSNV - 1/27 1
7-55113001-A-C c.88+25943A>C - IntronicSNV - 1/27 1
7-55113012-T-C c.88+25954T>C - IntronicSNV - 1/27 1
7-55113082-C-T c.88+26024C>T - IntronicSNV - 1/27 1
7-55113095-T-A c.88+26037T>A - IntronicSNV - 1/27 1
7-55113095-T-G c.88+26037T>G - IntronicSNV - 1/27 1
7-55113246-C-T c.88+26188C>T - IntronicSNV - 1/27 1
7-55113469-G-A c.88+26411G>A - IntronicSNV - 1/27 1
7-55113748-T-G c.88+26690T>G - IntronicSNV - 1/27 1
7-55113796-T-C c.88+26738T>C - IntronicSNV - 1/27 2
7-55113920-G-T c.88+26862G>T - IntronicSNV - 1/27 1
7-55114093-A-C c.88+27035A>C - IntronicSNV - 1/27 1
7-55114093-A-G c.88+27035A>G - IntronicSNV - 1/27 1
7-55114316-A-G c.88+27258A>G - IntronicSNV - 1/27 4
7-55114344-C-G c.88+27286C>G - IntronicSNV - 1/27 1
7-55114589-G-A c.88+27531G>A - IntronicSNV - 1/27 1
7-55114721-A-G c.88+27663A>G - IntronicSNV - 1/27 1
7-55115158-T-C c.88+28100T>C - IntronicSNV - 1/27 1
7-55115319-C-T c.88+28261C>T - IntronicSNV - 1/27 1
7-55115887-G-T c.88+28829G>T - IntronicSNV - 1/27 1
7-55115942-G-A c.88+28884G>A - IntronicSNV - 1/27 1
7-55115964-A-G c.88+28906A>G - IntronicSNV - 1/27 1
7-55116555-T-A c.88+29497T>A - IntronicSNV - 1/27 3
7-55116707-G-A c.88+29649G>A - IntronicSNV - 1/27 2
7-55117116-A-G c.88+30058A>G - IntronicSNV - 1/27 1
7-55117340-C-T c.88+30282C>T - IntronicSNV - 1/27 1
7-55117572-T-G c.88+30514T>G - IntronicSNV - 1/27 1
7-55118445-C-G c.88+31387C>G - IntronicSNV - 1/27 1
7-55118820-T-C c.88+31762T>C - IntronicSNV - 1/27 1
7-55118902-G-A c.88+31844G>A - IntronicSNV - 1/27 1
7-55119501-C-G c.88+32443C>G - IntronicSNV - 1/27 2
7-55119835-T-G c.88+32777T>G - IntronicSNV - 1/27 1
7-55119943-A-G c.88+32885A>G - IntronicSNV - 1/27 1
7-55120046-A-G c.88+32988A>G - IntronicSNV - 1/27 1
7-55120112-A-G c.88+33054A>G - IntronicSNV - 1/27 1
7-55120500-A-G c.88+33442A>G - IntronicSNV - 1/27 1
7-55120855-G-A c.88+33797G>A - IntronicSNV - 1/27 1
7-55120926-T-C c.88+33868T>C - IntronicSNV - 1/27 1
7-55121259-C-T c.88+34201C>T - IntronicSNV - 1/27 1
7-55121260-G-A c.88+34202G>A - IntronicSNV - 1/27 1
7-55121426-C-A c.88+34368C>A - IntronicSNV - 1/27 1
7-55121426-C-T c.88+34368C>T - IntronicSNV - 1/27 1
7-55121491-C-T c.88+34433C>T - IntronicSNV - 1/27 1
7-55121533-A-G c.88+34475A>G - IntronicSNV - 1/27 1
7-55121533-A-T c.88+34475A>T - IntronicSNV - 1/27 1
7-55121812-G-A c.88+34754G>A - IntronicSNV - 1/27 1
7-55121812-G-C c.88+34754G>C - IntronicSNV - 1/27 1
7-55121871-G-T c.88+34813G>T - IntronicSNV - 1/27 1
7-55122347-G-T c.88+35289G>T - IntronicSNV - 1/27 1
7-55122650-G-A c.88+35592G>A - IntronicSNV - 1/27 6
7-55122804-G-C c.88+35746G>C - IntronicSNV - 1/27 1
7-55123206-A-G c.88+36148A>G - IntronicSNV - 1/27 1
7-55123214-A-G c.88+36156A>G - IntronicSNV - 1/27 1
7-55123668-G-A c.88+36610G>A - IntronicSNV - 1/27 1
7-55123968-C-A c.88+36910C>A - IntronicSNV - 1/27 4
7-55123968-C-T c.88+36910C>T - IntronicSNV - 1/27 4
7-55124202-T-C c.88+37144T>C - IntronicSNV - 1/27 1
7-55124319-G-A c.88+37261G>A - IntronicSNV - 1/27 5
7-55124459-G-A c.88+37401G>A - IntronicSNV - 1/27 1
7-55124521-C-G c.88+37463C>G - IntronicSNV - 1/27 1
7-55124686-A-G c.88+37628A>G - IntronicSNV - 1/27 2
7-55124686-A-T c.88+37628A>T - IntronicSNV - 1/27 2
7-55124701-T-A c.88+37643T>A - IntronicSNV - 1/27 2
7-55124701-T-C c.88+37643T>C - IntronicSNV - 1/27 2
7-55124753-G-A c.88+37695G>A - IntronicSNV - 1/27 1
7-55124772-T-C c.88+37714T>C - IntronicSNV - 1/27 1
7-55124829-G-A c.88+37771G>A - IntronicSNV - 1/27 1
7-55124944-G-A c.88+37886G>A - IntronicSNV - 1/27 1
7-55125897-G-A c.88+38839G>A - IntronicSNV - 1/27 1
7-55125950-G-A c.88+38892G>A - IntronicSNV - 1/27 2
7-55125997-A-C c.88+38939A>C - IntronicSNV - 1/27 1
7-55125997-A-G c.88+38939A>G - IntronicSNV - 1/27 1
7-55126010-G-A c.88+38952G>A - IntronicSNV - 1/27 1
7-55126010-G-T c.88+38952G>T - IntronicSNV - 1/27 1
7-55126160-T-A c.88+39102T>A - IntronicSNV - 1/27 1
7-55126160-T-C c.88+39102T>C - IntronicSNV - 1/27 1
7-55126372-C-T c.88+39314C>T - IntronicSNV - 1/27 1
7-55126547-C-T c.88+39489C>T - IntronicSNV - 1/27 1
7-55126684-A-G c.88+39626A>G - IntronicSNV - 1/27 1
7-55126929-C-T c.88+39871C>T - IntronicSNV - 1/27 1
7-55126998-C-T c.88+39940C>T - IntronicSNV - 1/27 1
7-55127182-G-T c.88+40124G>T - IntronicSNV - 1/27 1
7-55127187-C-T c.88+40129C>T - IntronicSNV - 1/27 1
7-55127423-A-C c.88+40365A>C - IntronicSNV - 1/27 1
7-55127423-A-G c.88+40365A>G - IntronicSNV - 1/27 1
7-55127664-A-G c.88+40606A>G - IntronicSNV - 1/27 1
7-55127784-T-A c.88+40726T>A - IntronicSNV - 1/27 1
7-55127784-T-G c.88+40726T>G - IntronicSNV - 1/27 1
7-55128207-A-G c.88+41149A>G - IntronicSNV - 1/27 4
7-55128207-A-T c.88+41149A>T - IntronicSNV - 1/27 3
7-55128285-T-C c.88+41227T>C - IntronicSNV - 1/27 1
7-55128330-G-A c.88+41272G>A - IntronicSNV - 1/27 1
7-55128339-T-G c.88+41281T>G - IntronicSNV - 1/27 1
7-55128448-T-C c.88+41390T>C - IntronicSNV - 1/27 1
7-55128551-A-G c.88+41493A>G - IntronicSNV - 1/27 1
7-55128561-A-G c.88+41503A>G - IntronicSNV - 1/27 1
7-55128719-C-T c.88+41661C>T - IntronicSNV - 1/27 1
7-55128731-A-G c.88+41673A>G - IntronicSNV - 1/27 2
7-55129344-A-T c.88+42286A>T - IntronicSNV - 1/27 1
7-55129356-AGAGAGAGAGACTGTAAACATATATCTCTGTGAAACTTCATTTTCCATATGTGAATTTTT-A c.88+42300_88+42358del - Unclassified - 1/27 1
7-55130126-C-T c.88+43068C>T - IntronicSNV - 1/27 1
7-55130220-T-C c.88+43162T>C - IntronicSNV - 1/27 1
7-55130552-G-A c.88+43494G>A - IntronicSNV - 1/27 1
7-55130658-C-T c.88+43600C>T - IntronicSNV - 1/27 1
7-55130814-G-A c.88+43756G>A - IntronicSNV - 1/27 1
7-55130951-G-A c.88+43893G>A - IntronicSNV - 1/27 1
7-55131064-C-G c.88+44006C>G - IntronicSNV - 1/27 1
7-55131359-G-A c.88+44301G>A - IntronicSNV - 1/27 1
7-55131359-G-C c.88+44301G>C - IntronicSNV - 1/27 1
7-55131384-C-T c.88+44326C>T - IntronicSNV - 1/27 1
7-55131488-C-T c.88+44430C>T - IntronicSNV - 1/27 1
7-55131497-G-A c.88+44439G>A - IntronicSNV - 1/27 1
7-55131497-G-T c.88+44439G>T - IntronicSNV - 1/27 1
7-55131572-G-A c.88+44514G>A - IntronicSNV - 1/27 1
7-55131670-A-C c.88+44612A>C - IntronicSNV - 1/27 1
7-55131670-A-T c.88+44612A>T - IntronicSNV - 1/27 1
7-55131686-G-C c.88+44628G>C - IntronicSNV - 1/27 1
7-55131829-A-G c.88+44771A>G - IntronicSNV - 1/27 1
7-55131829-A-T c.88+44771A>T - IntronicSNV - 1/27 1
7-55131988-G-A c.88+44930G>A - IntronicSNV - 1/27 1
7-55131988-G-T c.88+44930G>T - IntronicSNV - 1/27 1
7-55132001-G-A c.88+44943G>A - IntronicSNV - 1/27 1
7-55132080-C-T c.88+45022C>T - IntronicSNV - 1/27 3
7-55132150-G-T c.88+45092G>T - IntronicSNV - 1/27 1
7-55132291-G-A c.88+45233G>A - IntronicSNV - 1/27 1
7-55132291-G-T c.88+45233G>T - IntronicSNV - 1/27 1
7-55132533-C-T c.88+45475C>T - IntronicSNV - 1/27 1
7-55132553-T-C c.88+45495T>C - IntronicSNV - 1/27 1
7-55132565-C-G c.88+45507C>G - IntronicSNV - 1/27 1
7-55132565-C-T c.88+45507C>T - IntronicSNV - 1/27 1
7-55132650-T-TG c.88+45594dup - IntronicInsertion - 1/27 1
7-55133363-T-A c.88+46305T>A - IntronicSNV - 1/27 1
7-55133363-T-C c.88+46305T>C - IntronicSNV - 1/27 1
7-55133401-A-G c.88+46343A>G - IntronicSNV - 1/27 1
7-55133954-T-A c.88+46896T>A - IntronicSNV - 1/27 1
7-55134165-C-T c.88+47107C>T - IntronicSNV - 1/27 1
7-55134260-C-T c.88+47202C>T - IntronicSNV - 1/27 1
7-55134272-C-T c.88+47214C>T - IntronicSNV - 1/27 1
7-55134277-G-A c.88+47219G>A - IntronicSNV - 1/27 1
7-55134817-G-A c.88+47759G>A - IntronicSNV - 1/27 1
7-55134819-A-G c.88+47761A>G - IntronicSNV - 1/27 2
7-55134872-A-G c.88+47814A>G - IntronicSNV - 1/27 14
7-55135275-G-A c.88+48217G>A - IntronicSNV - 1/27 1
7-55135338-C-T c.88+48280C>T - IntronicSNV - 1/27 1
7-55135473-C-T c.88+48415C>T - IntronicSNV - 1/27 1
7-55135512-C-A c.88+48454C>A - IntronicSNV - 1/27 1
7-55135512-C-T c.88+48454C>T - IntronicSNV - 1/27 1
7-55135568-T-C c.88+48510T>C - IntronicSNV - 1/27 1
7-55135627-G-A c.88+48569G>A - IntronicSNV - 1/27 1
7-55135666-C-T c.88+48608C>T - IntronicSNV - 1/27 1
7-55135897-A-G c.88+48839A>G - IntronicSNV - 1/27 1
7-55136397-C-T c.88+49339C>T - IntronicSNV - 1/27 1
7-55137080-A-G c.88+50022A>G - IntronicSNV - 1/27 1
7-55137258-A-G c.88+50200A>G - IntronicSNV - 1/27 1
7-55137888-G-A c.88+50830G>A - IntronicSNV - 1/27 2
7-55137949-C-T c.88+50891C>T - IntronicSNV - 1/27 1
7-55138146-C-T c.88+51088C>T - IntronicSNV - 1/27 1
7-55138388-C-T c.88+51330C>T - IntronicSNV - 1/27 4
7-55138832-C-T c.88+51774C>T - IntronicSNV - 1/27 1
7-55139068-A-G c.88+52010A>G - IntronicSNV - 1/27 1
7-55139337-T-C c.88+52279T>C - IntronicSNV - 1/27 1
7-55139463-A-T c.88+52405A>T - IntronicSNV - 1/27 1
7-55139715-A-G c.88+52657A>G - IntronicSNV - 1/27 1
7-55139751-C-G c.88+52693C>G - IntronicSNV - 1/27 1
7-55139997-C-T c.88+52939C>T - IntronicSNV - 1/27 1
7-55140255-T-C c.88+53197T>C - IntronicSNV - 1/27 1
7-55140296-C-T c.88+53238C>T - IntronicSNV - 1/27 4
7-55140398-T-C c.88+53340T>C - IntronicSNV - 1/27 2
7-55140786-G-A c.88+53728G>A - IntronicSNV - 1/27 4
7-55141317-T-C c.88+54259T>C - IntronicSNV - 1/27 10
7-55141411-G-C c.88+54353G>C - IntronicSNV - 1/27 1
7-55141476-G-A c.88+54418G>A - IntronicSNV - 1/27 1
7-55141540-T-C c.88+54482T>C - IntronicSNV - 1/27 3
7-55141875-G-C c.88+54817G>C - IntronicSNV - 1/27 1
7-55141875-G-T c.88+54817G>T - IntronicSNV - 1/27 1
7-55141908-C-T c.88+54850C>T - IntronicSNV - 1/27 1
7-55142125-C-T c.88+55067C>T - IntronicSNV - 1/27 1
7-55142212-G-A c.88+55154G>A - IntronicSNV - 1/27 1
7-55142435-G-A c.88+55377G>A - IntronicSNV - 1/27 2
7-55142654-A-G c.88+55596A>G - IntronicSNV - 1/27 2
7-55142660-A-G c.88+55602A>G - IntronicSNV - 1/27 1
7-55142911-G-A c.88+55853G>A - IntronicSNV - 1/27 1
7-55142911-G-T c.88+55853G>T - IntronicSNV - 1/27 1
7-55142992-G-C c.88+55934G>C - IntronicSNV - 1/27 1
7-55143320-T-C c.88+56262T>C - IntronicSNV - 1/27 1
7-55143604-G-A c.88+56546G>A - IntronicSNV - 1/27 1
7-55143838-T-C c.88+56780T>C - IntronicSNV - 1/27 1
7-55143867-C-T c.88+56809C>T - IntronicSNV - 1/27 1
7-55144153-C-T c.88+57095C>T - IntronicSNV - 1/27 1
7-55144156-T-A c.88+57098T>A - IntronicSNV - 1/27 5
7-55144156-T-C c.88+57098T>C - IntronicSNV - 1/27 5
7-55144430-A-G c.88+57372A>G - IntronicSNV - 1/27 4
7-55144479-A-G c.88+57421A>G - IntronicSNV - 1/27 1
7-55144683-A-C c.88+57625A>C - IntronicSNV - 1/27 1
7-55144747-C-A c.88+57689C>A - IntronicSNV - 1/27 1
7-55144833-C-T c.88+57775C>T - IntronicSNV - 1/27 5
7-55145173-C-T c.88+58115C>T - IntronicSNV - 1/27 1
7-55145334-G-A c.88+58276G>A - IntronicSNV - 1/27 2
7-55145334-G-C c.88+58276G>C - IntronicSNV - 1/27 2
7-55145382-C-T c.88+58324C>T - IntronicSNV - 1/27 2
7-55146021-G-C c.88+58963G>C - IntronicSNV - 1/27 1
7-55146113-C-T c.88+59055C>T - IntronicSNV - 1/27 1
7-55146277-C-T c.88+59219C>T - IntronicSNV - 1/27 1
7-55146291-G-T c.88+59233G>T - IntronicSNV - 1/27 1
7-55146471-C-T c.88+59413C>T - IntronicSNV - 1/27 1
7-55146494-G-A c.88+59436G>A - IntronicSNV - 1/27 1
7-55146877-C-T c.88+59819C>T - IntronicSNV - 1/27 1
7-55146926-A-G c.88+59868A>G - IntronicSNV - 1/27 1
7-55147028-G-A c.88+59970G>A - IntronicSNV - 1/27 1
7-55147478-G-A c.88+60420G>A - IntronicSNV - 1/27 3
7-55147592-C-T c.88+60534C>T - IntronicSNV - 1/27 1
7-55147593-G-A c.88+60535G>A - IntronicSNV - 1/27 1
7-55147995-T-C c.88+60937T>C - IntronicSNV - 1/27 1
7-55148154-A-C c.88+61096A>C - IntronicSNV - 1/27 1
7-55148154-A-G c.88+61096A>G - IntronicSNV - 1/27 1
7-55148715-G-C c.89-61264G>C - IntronicSNV - 1/27 2
7-55148816-C-T c.89-61163C>T - IntronicSNV - 1/27 1
7-55148817-C-T c.89-61162C>T - IntronicSNV - 1/27 1
7-55148996-G-A c.89-60983G>A - IntronicSNV - 1/27 1
7-55148996-G-C c.89-60983G>C - IntronicSNV - 1/27 1
7-55149521-G-GC c.89-60457dup - IntronicInsertion - 1/27 1
7-55149706-T-C c.89-60273T>C - IntronicSNV - 1/27 1
7-55149810-A-G c.89-60169A>G - IntronicSNV - 1/27 1
7-55149931-T-C c.89-60048T>C - IntronicSNV - 1/27 1
7-55150130-C-T c.89-59849C>T - IntronicSNV - 1/27 1
7-55150359-C-A c.89-59620C>A - IntronicSNV - 1/27 1
7-55150822-A-T c.89-59157A>T - IntronicSNV - 1/27 5
7-55151537-T-C c.89-58442T>C - IntronicSNV - 1/27 7
7-55151739-G-A c.89-58240G>A - IntronicSNV - 1/27 1
7-55151886-G-C c.89-58093G>C - IntronicSNV - 1/27 5
7-55151886-G-T c.89-58093G>T - IntronicSNV - 1/27 5
7-55151949-A-AG c.89-58027dup - IntronicInsertion - 1/27 1
7-55152337-G-A c.89-57642G>A - IntronicSNV - 1/27 2
7-55152667-G-A c.89-57312G>A - IntronicSNV - 1/27 3
7-55152680-G-A c.89-57299G>A - IntronicSNV - 1/27 1
7-55152722-C-T c.89-57257C>T - IntronicSNV - 1/27 1
7-55152969-G-T c.89-57010G>T - IntronicSNV - 1/27 1
7-55153164-T-C c.89-56815T>C - IntronicSNV - 1/27 3
7-55153237-G-A c.89-56742G>A - IntronicSNV - 1/27 2
7-55153693-C-T c.89-56286C>T - IntronicSNV - 1/27 1
7-55153708-A-T c.89-56271A>T - IntronicSNV - 1/27 1
7-55153742-G-A c.89-56237G>A - IntronicSNV - 1/27 1
7-55153775-G-A c.89-56204G>A - IntronicSNV - 1/27 1
7-55154381-G-A c.89-55598G>A - IntronicSNV - 1/27 4
7-55154444-T-C c.89-55535T>C - IntronicSNV - 1/27 1
7-55154586-G-A c.89-55393G>A - IntronicSNV - 1/27 3
7-55154586-G-C c.89-55393G>C - IntronicSNV - 1/27 3
7-55154636-T-C c.89-55343T>C - IntronicSNV - 1/27 3
7-55154688-A-C c.89-55291A>C - IntronicSNV - 1/27 6
7-55154688-A-T c.89-55291A>T - IntronicSNV - 1/27 6
7-55154728-C-A c.89-55251C>A - IntronicSNV - 1/27 1
7-55154756-A-G c.89-55223A>G - IntronicSNV - 1/27 1
7-55154873-T-A c.89-55106T>A - IntronicSNV - 1/27 1
7-55154931-C-A c.89-55048C>A - IntronicSNV - 1/27 1
7-55154931-C-T c.89-55048C>T - IntronicSNV - 1/27 1
7-55155070-C-G c.89-54909C>G - IntronicSNV - 1/27 1
7-55155372-C-T c.89-54607C>T - IntronicSNV - 1/27 2
7-55155490-G-A c.89-54489G>A - IntronicSNV - 1/27 1
7-55155849-G-T c.89-54130G>T - IntronicSNV - 1/27 1
7-55155988-G-A c.89-53991G>A - IntronicSNV - 1/27 2
7-55155988-G-C c.89-53991G>C - IntronicSNV - 1/27 2
7-55156010-G-T c.89-53969G>T - IntronicSNV - 1/27 1
7-55156071-G-A c.89-53908G>A - IntronicSNV - 1/27 8
7-55156075-G-A c.89-53904G>A - IntronicSNV - 1/27 1
7-55156365-G-A c.89-53614G>A - IntronicSNV - 1/27 1
7-55156419-T-A c.89-53560T>A - IntronicSNV - 1/27 4
7-55156447-G-A c.89-53532G>A - IntronicSNV - 1/27 1
7-55156483-T-G c.89-53496T>G - IntronicSNV - 1/27 1
7-55157028-G-A c.89-52951G>A - IntronicSNV - 1/27 1
7-55157028-G-C c.89-52951G>C - IntronicSNV - 1/27 1
7-55157232-T-C c.89-52747T>C - IntronicSNV - 1/27 1
7-55157312-C-T c.89-52667C>T - IntronicSNV - 1/27 1
7-55157475-T-C c.89-52504T>C - IntronicSNV - 1/27 1
7-55157475-T-G c.89-52504T>G - IntronicSNV - 1/27 1
7-55157915-T-C c.89-52064T>C - IntronicSNV - 1/27 1
7-55158025-G-A c.89-51954G>A - IntronicSNV - 1/27 1
7-55158031-G-A c.89-51948G>A - IntronicSNV - 1/27 1
7-55158048-G-A c.89-51931G>A - IntronicSNV - 1/27 1
7-55158201-A-G c.89-51778A>G - IntronicSNV - 1/27 1
7-55158201-A-T c.89-51778A>T - IntronicSNV - 1/27 1
7-55158260-A-C c.89-51719A>C - IntronicSNV - 1/27 1
7-55158470-C-G c.89-51509C>G - IntronicSNV - 1/27 1
7-55158470-C-T c.89-51509C>T - IntronicSNV - 1/27 1
7-55159109-G-A c.89-50870G>A - IntronicSNV - 1/27 1
7-55159349-A-G c.89-50630A>G - IntronicSNV - 1/27 42
7-55159349-A-T c.89-50630A>T - IntronicSNV - 1/27 42
7-55159479-A-G c.89-50500A>G - IntronicSNV - 1/27 1
7-55159583-A-C c.89-50396A>C - IntronicSNV - 1/27 1
7-55159857-G-A c.89-50122G>A - IntronicSNV - 1/27 1
7-55159875-G-C c.89-50104G>C - IntronicSNV - 1/27 1
7-55159983-A-G c.89-49996A>G - IntronicSNV - 1/27 1
7-55160160-C-T c.89-49819C>T - IntronicSNV - 1/27 1
7-55160538-A-G c.89-49441A>G - IntronicSNV - 1/27 2
7-55160590-A-T c.89-49389A>T - IntronicSNV - 1/27 1
7-55160857-C-T c.89-49122C>T - IntronicSNV - 1/27 1
7-55160995-T-A c.89-48984T>A - IntronicSNV - 1/27 3
7-55160995-T-C c.89-48984T>C - IntronicSNV - 1/27 3
7-55161043-G-A c.89-48936G>A - IntronicSNV - 1/27 5
7-55161043-G-C c.89-48936G>C - IntronicSNV - 1/27 5
7-55161043-G-T c.89-48936G>T - IntronicSNV - 1/27 5
7-55161056-T-C c.89-48923T>C - IntronicSNV - 1/27 1
7-55161151-T-C c.89-48828T>C - IntronicSNV - 1/27 1
7-55161151-T-G c.89-48828T>G - IntronicSNV - 1/27 1
7-55161156-G-A c.89-48823G>A - IntronicSNV - 1/27 3
7-55161167-T-C c.89-48812T>C - IntronicSNV - 1/27 1
7-55161238-C-T c.89-48741C>T - IntronicSNV - 1/27 1
7-55161372-C-T c.89-48607C>T - IntronicSNV - 1/27 1
7-55161637-G-A c.89-48342G>A - IntronicSNV - 1/27 1
7-55161746-T-C c.89-48233T>C - IntronicSNV - 1/27 5
7-55161841-G-T c.89-48138G>T - IntronicSNV - 1/27 1
7-55162011-C-T c.89-47968C>T - IntronicSNV - 1/27 7
7-55162305-A-G c.89-47674A>G - IntronicSNV - 1/27 2
7-55162336-T-C c.89-47643T>C - IntronicSNV - 1/27 8
7-55162806-T-C c.89-47173T>C - IntronicSNV - 1/27 1
7-55162868-G-A c.89-47111G>A - IntronicSNV - 1/27 1
7-55162868-G-T c.89-47111G>T - IntronicSNV - 1/27 1
7-55163082-A-T c.89-46897A>T - IntronicSNV - 1/27 1
7-55163231-G-A c.89-46748G>A - IntronicSNV - 1/27 1
7-55163255-T-C c.89-46724T>C - IntronicSNV - 1/27 2
7-55163494-C-T c.89-46485C>T - IntronicSNV - 1/27 1
7-55163502-C-A c.89-46477C>A - IntronicSNV - 1/27 1
7-55163502-C-G c.89-46477C>G - IntronicSNV - 1/27 1
7-55163502-C-T c.89-46477C>T - IntronicSNV - 1/27 1
7-55163582-C-G c.89-46397C>G - IntronicSNV - 1/27 1
7-55163737-C-G c.89-46242C>G - IntronicSNV - 1/27 3
7-55163737-C-T c.89-46242C>T - IntronicSNV - 1/27 3
7-55163752-A-T c.89-46227A>T - IntronicSNV - 1/27 1
7-55163867-G-A c.89-46112G>A - IntronicSNV - 1/27 2
7-55164036-T-C c.89-45943T>C - IntronicSNV - 1/27 1
7-55164081-C-A c.89-45898C>A - IntronicSNV - 1/27 1
7-55164081-C-T c.89-45898C>T - IntronicSNV - 1/27 1
7-55164337-C-T c.89-45642C>T - IntronicSNV - 1/27 1
7-55164484-G-A c.89-45495G>A - IntronicSNV - 1/27 1
7-55164642-C-T c.89-45337C>T - IntronicSNV - 1/27 1
7-55164994-C-G c.89-44985C>G - IntronicSNV - 1/27 1
7-55164994-C-T c.89-44985C>T - IntronicSNV - 1/27 1
7-55165402-G-C c.89-44577G>C - IntronicSNV - 1/27 1
7-55165460-G-A c.89-44519G>A - IntronicSNV - 1/27 1
7-55165460-G-T c.89-44519G>T - IntronicSNV - 1/27 1
7-55165895-C-T c.89-44084C>T - IntronicSNV - 1/27 1
7-55165996-G-A c.89-43983G>A - IntronicSNV - 1/27 1
7-55165996-G-T c.89-43983G>T - IntronicSNV - 1/27 1
7-55165999-G-A c.89-43980G>A - IntronicSNV - 1/27 1
7-55166135-T-C c.89-43844T>C - IntronicSNV - 1/27 1
7-55166368-C-A c.89-43611C>A - IntronicSNV - 1/27 1
7-55166769-T-C c.89-43210T>C - IntronicSNV - 1/27 1
7-55166804-C-G c.89-43175C>G - IntronicSNV - 1/27 1
7-55167063-C-T c.89-42916C>T - IntronicSNV - 1/27 1
7-55167066-T-C c.89-42913T>C - IntronicSNV - 1/27 1
7-55167145-G-A c.89-42834G>A - IntronicSNV - 1/27 1
7-55167627-C-G c.89-42352C>G - IntronicSNV - 1/27 1
7-55167753-G-A c.89-42226G>A - IntronicSNV - 1/27 1
7-55167881-T-C c.89-42098T>C - IntronicSNV - 1/27 1
7-55168063-C-T c.89-41916C>T - IntronicSNV - 1/27 1
7-55168193-A-G c.89-41786A>G - IntronicSNV - 1/27 2
7-55168692-A-G c.89-41287A>G - IntronicSNV - 1/27 9
7-55168733-G-C c.89-41246G>C - IntronicSNV - 1/27 1
7-55168749-C-A c.89-41230C>A - IntronicSNV - 1/27 1
7-55168749-C-T c.89-41230C>T - IntronicSNV - 1/27 1
7-55168803-C-T c.89-41176C>T - IntronicSNV - 1/27 1
7-55168912-C-T c.89-41067C>T - IntronicSNV - 1/27 2
7-55169009-A-G c.89-40970A>G - IntronicSNV - 1/27 1
7-55169069-T-C c.89-40910T>C - IntronicSNV - 1/27 1
7-55169291-A-G c.89-40688A>G - IntronicSNV - 1/27 1
7-55169306-T-C c.89-40673T>C - IntronicSNV - 1/27 1
7-55169672-C-A c.89-40307C>A - IntronicSNV - 1/27 1
7-55169672-C-G c.89-40307C>G - IntronicSNV - 1/27 1
7-55169672-C-T c.89-40307C>T - IntronicSNV - 1/27 1
7-55169785-G-A c.89-40194G>A - IntronicSNV - 1/27 1
7-55169785-G-C c.89-40194G>C - IntronicSNV - 1/27 1
7-55169967-T-G c.89-40012T>G - IntronicSNV - 1/27 1
7-55170159-A-C c.89-39820A>C - IntronicSNV - 1/27 1
7-55170159-A-G c.89-39820A>G - IntronicSNV - 1/27 1
7-55170465-T-A c.89-39514T>A - IntronicSNV - 1/27 1
7-55170578-A-T c.89-39401A>T - IntronicSNV - 1/27 1
7-55170883-C-T c.89-39096C>T - IntronicSNV - 1/27 1
7-55171150-A-C c.89-38829A>C - IntronicSNV - 1/27 1
7-55171190-G-A c.89-38789G>A - IntronicSNV - 1/27 6
7-55171334-A-G c.89-38645A>G - IntronicSNV - 1/27 1
7-55171468-C-T c.89-38511C>T - IntronicSNV - 1/27 1
7-55171629-A-G c.89-38350A>G - IntronicSNV - 1/27 3
7-55171636-T-C c.89-38343T>C - IntronicSNV - 1/27 1
7-55172125-C-G c.89-37854C>G - IntronicSNV - 1/27 1
7-55172325-T-C c.89-37654T>C - IntronicSNV - 1/27 1
7-55172768-T-C c.89-37211T>C - IntronicSNV - 1/27 3
7-55172842-G-C c.89-37137G>C - IntronicSNV - 1/27 1
7-55173675-C-G c.89-36304C>G - IntronicSNV - 1/27 4
7-55173675-C-T c.89-36304C>T - IntronicSNV - 1/27 4
7-55173695-C-A c.89-36284C>A - IntronicSNV - 1/27 1
7-55173695-C-T c.89-36284C>T - IntronicSNV - 1/27 1
7-55173700-T-C c.89-36279T>C - IntronicSNV - 1/27 1
7-55173995-C-A c.89-35984C>A - IntronicSNV - 1/27 1
7-55173995-C-T c.89-35984C>T - IntronicSNV - 1/27 1
7-55174031-A-G c.89-35948A>G - IntronicSNV - 1/27 1
7-55174071-C-G c.89-35908C>G - IntronicSNV - 1/27 2
7-55174342-C-A c.89-35637C>A - IntronicSNV - 1/27 4
7-55175603-T-A c.89-34376T>A - IntronicSNV - 1/27 1
7-55175876-A-G c.89-34103A>G - IntronicSNV - 1/27 2
7-55176695-C-T c.89-33284C>T - IntronicSNV - 1/27 1
7-55176696-G-A c.89-33283G>A - IntronicSNV - 1/27 1
7-55176696-G-C c.89-33283G>C - IntronicSNV - 1/27 1
7-55176696-G-T c.89-33283G>T - IntronicSNV - 1/27 1
7-55177232-G-A c.89-32747G>A - IntronicSNV - 1/27 1
7-55177232-G-C c.89-32747G>C - IntronicSNV - 1/27 1
7-55177641-C-T c.89-32338C>T - IntronicSNV - 1/27 1
7-55177699-C-T c.89-32280C>T - IntronicSNV - 1/27 1
7-55177869-C-T c.89-32110C>T - IntronicSNV - 1/27 4
7-55178111-C-T c.89-31868C>T - IntronicSNV - 1/27 1
7-55178158-C-T c.89-31821C>T - IntronicSNV - 1/27 1
7-55178579-T-G c.89-31400T>G - IntronicSNV - 1/27 3
7-55179209-G-A c.89-30770G>A - IntronicSNV - 1/27 2
7-55179209-G-T c.89-30770G>T - IntronicSNV - 1/27 2
7-55179400-T-G c.89-30579T>G - IntronicSNV - 1/27 2
7-55179844-G-A c.89-30135G>A - IntronicSNV - 1/27 2
7-55179844-G-T c.89-30135G>T - IntronicSNV - 1/27 2
7-55179935-G-C c.89-30044G>C - IntronicSNV - 1/27 1
7-55180110-C-A c.89-29869C>A - IntronicSNV - 1/27 2
7-55180979-G-T c.89-29000G>T - IntronicSNV - 1/27 1
7-55181361-G-A c.89-28618G>A - IntronicSNV - 1/27 1
7-55181442-G-A c.89-28537G>A - IntronicSNV - 1/27 3
7-55181442-G-T c.89-28537G>T - IntronicSNV - 1/27 3
7-55181798-C-T c.89-28181C>T - IntronicSNV - 1/27 1
7-55182064-A-G c.89-27915A>G - IntronicSNV - 1/27 1
7-55182253-C-A c.89-27726C>A - IntronicSNV - 1/27 1
7-55182494-G-A c.89-27485G>A - IntronicSNV - 1/27 1
7-55182730-G-A c.89-27249G>A - IntronicSNV - 1/27 1
7-55183115-C-A c.89-26864C>A - IntronicSNV - 1/27 1
7-55183121-T-C c.89-26858T>C - IntronicSNV - 1/27 1
7-55184778-A-G c.89-25201A>G - IntronicSNV - 1/27 1
7-55184912-A-G c.89-25067A>G - IntronicSNV - 1/27 1
7-55185076-G-A c.89-24903G>A - IntronicSNV - 1/27 1
7-55185302-A-G c.89-24677A>G - IntronicSNV - 1/27 1
7-55185302-A-T c.89-24677A>T - IntronicSNV - 1/27 1
7-55185890-C-T c.89-24089C>T - IntronicSNV - 1/27 4
7-55186223-T-C c.89-23756T>C - IntronicSNV - 1/27 1
7-55186456-A-C c.89-23523A>C - IntronicSNV - 1/27 1
7-55186456-A-T c.89-23523A>T - IntronicSNV - 1/27 1
7-55186800-C-T c.89-23179C>T - IntronicSNV - 1/27 1
7-55186831-G-A c.89-23148G>A - IntronicSNV - 1/27 1
7-55186831-G-C c.89-23148G>C - IntronicSNV - 1/27 1
7-55187053-C-A c.89-22926C>A - IntronicSNV - 1/27 1
7-55187090-T-C c.89-22889T>C - IntronicSNV - 1/27 1
7-55187138-G-A c.89-22841G>A - IntronicSNV - 1/27 1
7-55187835-T-A c.89-22144T>A - IntronicSNV - 1/27 1
7-55187992-G-A c.89-21987G>A - IntronicSNV - 1/27 10
7-55189190-C-T c.89-20789C>T - IntronicSNV - 1/27 1
7-55189215-G-T c.89-20764G>T - IntronicSNV - 1/27 2
7-55190098-A-C c.89-19881A>C - IntronicSNV - 1/27 1
7-55190098-A-T c.89-19881A>T - IntronicSNV - 1/27 1
7-55190201-G-A c.89-19778G>A - IntronicSNV - 1/27 1
7-55190201-G-T c.89-19778G>T - IntronicSNV - 1/27 1
7-55190489-C-T c.89-19490C>T - IntronicSNV - 1/27 1
7-55190672-C-A c.89-19307C>A - IntronicSNV - 1/27 1
7-55190730-T-C c.89-19249T>C - IntronicSNV - 1/27 1
7-55190865-G-A c.89-19114G>A - IntronicSNV - 1/27 1
7-55191548-G-A c.89-18431G>A - IntronicSNV - 1/27 1
7-55191548-G-C c.89-18431G>C - IntronicSNV - 1/27 1
7-55192256-A-C c.89-17723A>C - IntronicSNV - 1/27 8
7-55192617-C-T c.89-17362C>T - IntronicSNV - 1/27 1
7-55192790-G-A c.89-17189G>A - IntronicSNV - 1/27 1
7-55192963-T-G c.89-17016T>G - IntronicSNV - 1/27 9
7-55193053-A-C c.89-16926A>C - IntronicSNV - 1/27 1
7-55193053-A-G c.89-16926A>G - IntronicSNV - 1/27 1
7-55193708-G-A c.89-16271G>A - IntronicSNV - 1/27 1
7-55193708-G-T c.89-16271G>T - IntronicSNV - 1/27 1
7-55195344-A-T c.89-14635A>T - IntronicSNV - 1/27 3
7-55195625-G-A c.89-14354G>A - IntronicSNV - 1/27 6
7-55195720-G-T c.89-14259G>T - IntronicSNV - 1/27 1
7-55195947-C-T c.89-14032C>T - IntronicSNV - 1/27 1
7-55196572-A-T c.89-13407A>T - IntronicSNV - 1/27 1
7-55196855-T-C c.89-13124T>C - IntronicSNV - 1/27 3
7-55196909-G-T c.89-13070G>T - IntronicSNV - 1/27 1
7-55197390-C-T c.89-12589C>T - IntronicSNV - 1/27 3
7-55198208-G-A c.89-11771G>A - IntronicSNV - 1/27 1
7-55198347-C-T c.89-11632C>T - IntronicSNV - 1/27 1
7-55198543-G-A c.89-11436G>A - IntronicSNV - 1/27 1
7-55198811-T-A c.89-11168T>A - IntronicSNV - 1/27 1
7-55199325-C-T c.89-10654C>T - IntronicSNV - 1/27 1
7-55199652-A-C c.89-10327A>C - IntronicSNV - 1/27 1
7-55200398-G-C c.89-9581G>C - IntronicSNV - 1/27 1
7-55200512-G-A c.89-9467G>A - IntronicSNV - 1/27 4
7-55200512-G-T c.89-9467G>T - IntronicSNV - 1/27 4
7-55200625-A-G c.89-9354A>G - IntronicSNV - 1/27 1
7-55200893-G-A c.89-9086G>A - IntronicSNV - 1/27 1
7-55201033-T-C c.89-8946T>C - IntronicSNV - 1/27 1
7-55201394-G-A c.89-8585G>A - IntronicSNV - 1/27 1
7-55201536-T-G c.89-8443T>G - IntronicSNV - 1/27 1
7-55201776-G-A c.89-8203G>A - IntronicSNV - 1/27 2
7-55201776-G-C c.89-8203G>C - IntronicSNV - 1/27 2
7-55202598-G-A c.89-7381G>A - IntronicSNV - 1/27 3
7-55202652-G-A c.89-7327G>A - IntronicSNV - 1/27 1
7-55203098-G-T c.89-6881G>T - IntronicSNV - 1/27 1
7-55203297-A-C c.89-6682A>C - IntronicSNV - 1/27 1
7-55203297-A-T c.89-6682A>T - IntronicSNV - 1/27 1
7-55203359-T-C c.89-6620T>C - IntronicSNV - 1/27 1
7-55203838-G-A c.89-6141G>A - IntronicSNV - 1/27 2
7-55203838-G-C c.89-6141G>C - IntronicSNV - 1/27 2
7-55203978-C-G c.89-6001C>G - IntronicSNV - 1/27 1
7-55203978-C-T c.89-6001C>T - IntronicSNV - 1/27 1
7-55204072-T-A c.89-5907T>A - IntronicSNV - 1/27 1
7-55204108-C-A c.89-5871C>A - IntronicSNV - 1/27 1
7-55204108-C-T c.89-5871C>T - IntronicSNV - 1/27 1
7-55204109-G-A c.89-5870G>A - IntronicSNV - 1/27 1
7-55204162-A-G c.89-5817A>G - IntronicSNV - 1/27 1
7-55204196-A-C c.89-5783A>C - IntronicSNV - 1/27 1
7-55204486-T-C c.89-5493T>C - IntronicSNV - 1/27 1
7-55205904-T-C c.89-4075T>C - IntronicSNV - 1/27 1
7-55205904-T-G c.89-4075T>G - IntronicSNV - 1/27 1
7-55205930-A-T c.89-4049A>T - IntronicSNV - 1/27 3
7-55206143-C-T c.89-3836C>T - IntronicSNV - 1/27 1
7-55206406-A-G c.89-3573A>G - IntronicSNV - 1/27 1
7-55206680-G-A c.89-3299G>A - IntronicSNV - 1/27 1
7-55206854-C-T c.89-3125C>T - IntronicSNV - 1/27 1
7-55206861-G-T c.89-3118G>T - IntronicSNV - 1/27 1
7-55207105-A-G c.89-2874A>G - IntronicSNV - 1/27 1
7-55207220-G-A c.89-2759G>A - IntronicSNV - 1/27 1
7-55207249-G-A c.89-2730G>A - IntronicSNV - 1/27 1
7-55208277-G-A c.89-1702G>A - IntronicSNV - 1/27 1
7-55208284-C-A c.89-1695C>A - IntronicSNV - 1/27 1
7-55208352-G-A c.89-1627G>A - IntronicSNV - 1/27 1
7-55209081-T-C c.89-898T>C - IntronicSNV - 1/27 1
7-55209353-C-T c.89-626C>T - IntronicSNV - 1/27 1
7-55209428-T-A c.89-551T>A - IntronicSNV - 1/27 1
7-55209637-C-A c.89-342C>A - IntronicSNV - 1/27 6
7-55209712-T-C c.89-267T>C - IntronicSNV - 1/27 1
7-55209905-C-A c.89-74C>A - IntronicSNV - 1/27 1
7-55209905-C-T c.89-74C>T - IntronicSNV - 1/27 1
7-55209979-GTTTGCCAAGGCACGAGTAACAAGCTCACGCAGTTGGGCACTTTTGAAGATCATTTTCTC-G c.89_147del p.V30Efs*8 Unclassified 2/28 - 4
7-55209979-T-A c.89T>A p.V30D Missense 2/28 - 1
7-55209979-T-C c.89T>C p.V30A Missense 2/28 - 2
7-55209979-TT-AG c.89_90delinsAG p.V30E Missense 2/28 - 1
7-55209980-T-A c.90T>A p.V30= Synonymous 2/28 - 1
7-55209980-T-C c.90T>C p.V30= Synonymous 2/28 - 1
7-55209980-T-G c.90T>G p.V30= Synonymous 2/28 - 2
7-55209980-T-TA c.90_91insA p.C31Mfs*6 SpliceAcceptorInsertion 2/28 - 2
7-55209980-T-TC c.90_91insC p.C31Lfs*6 SpliceAcceptorInsertion 2/28 - 2
7-55209980-T-TG c.90_91insG p.C31Vfs*6 SpliceAcceptorInsertion 2/28 - 2
7-55209978-G-GT c.91dup p.C31Lfs*6 Frameshift 2/28 - 3
7-55209981-T-A c.91T>A p.C31S Missense 2/28 - 1
7-55209981-T-C c.91T>C p.C31R Missense 2/28 - 1
7-55209981-TG-AC c.91_92delinsAC p.C31T Missense 2/28 - 1
7-55209981-TGC-GAG c.91_93delinsGAG p.C31E Missense 2/28 - 2
7-55209981-TG-GC c.91_92delinsGC p.C31A Missense 2/28 - 1
7-55209981-TTGCCAAGGCACGAGTAACAAG-T c.91_111del p.C31_K37del InFrameDeletion 2/28 - 1
7-55209981-TTGC-T c.91_93del p.C31del InFrameDeletion 2/28 - 1
7-55209982-G-C c.92G>C p.C31S Missense 2/28 - 1
7-55209982-G-A c.92G>A p.C31Y Missense 2/28 - 1
7-55209982-G-T c.92G>T p.C31F Missense 2/28 - 3
7-55209982-TG-T c.92del p.C31Sfs*49 Frameshift 2/28 - 1
7-55209983-C-A c.93C>A p.C31* Nonsense 2/28 - 2
7-55209983-C-T c.93C>T p.C31= Synonymous 2/28 - 5
7-55209984-C-A c.94C>A p.Q32K Missense 2/28 - 5
7-55209984-CAA-AAC c.94_96delinsAAC p.Q32N Missense 2/28 - 1
7-55209984-CA-GC c.94_95delinsGC p.Q32A Missense 2/28 - 1
7-55209985-A-G c.95A>G p.Q32R Missense 2/28 - 3
7-55209987-G-A c.97G>A p.G33S Missense 2/28 - 8
7-55209987-GG-AA c.97_98delinsAA p.G33N Missense 2/28 - 2
7-55209987-GGC-AAG c.97_99delinsAAG p.G33K Missense 2/28 - 2
7-55209987-G-T c.97G>T p.G33C Missense 2/28 - 1
7-55209988-G-A c.98G>A p.G33D Missense 2/28 - 3
7-55209988-G-C c.98G>C p.G33A Missense 2/28 - 1
7-55209989-C-A c.99C>A p.G33= Synonymous 2/28 - 1
7-55209990-ACG-TGT c.100_102delinsTGT p.T34C Missense 2/28 - 1
7-55209990-A-G c.100A>G p.T34A Missense 2/28 - 20
7-55209991-C-A c.101C>A p.T34K Missense 2/28 - 1
7-55209991-C-G c.101C>G p.T34R Missense 2/28 - 5
7-55209991-CG-AC c.101_102delinsAC p.T34N Missense 2/28 - 5
7-55209991-CG-TC c.101_102delinsTC p.T34I Missense 2/28 - 1
7-55209991-C-T c.101C>T p.T34M Missense 2/28 - 7
7-55209992-G-A c.102G>A p.T34= Synonymous 2/28 - 1
7-55209992-G-T c.102G>T p.T34= Synonymous 2/28 - 1
7-55209993-AG-CC c.103_104delinsCC p.S35P Missense 2/28 - 1
7-55209993-AG-CT c.103_104inv p.S35L Missense 2/28 - 1
7-55209993-AG-GA c.103_104delinsGA p.S35D Missense 2/28 - 2
7-55209993-AG-GC c.103_104delinsGC p.S35A Missense 2/28 - 6
7-55209993-AG-TA c.103_104delinsTA p.S35Y Missense 2/28 - 1
7-55209993-AG-TT c.103_104delinsTT p.S35F Missense 2/28 - 1
7-55209993-A-T c.103A>T p.S35C Missense 2/28 - 1
7-55209994-G-A c.104G>A p.S35N Missense 2/28 - 5
7-55209994-G-T c.104G>T p.S35I Missense 2/28 - 2
7-55209996-AAC-CAA c.106_108delinsCAA p.N36Q Missense 2/28 - 1
7-55209996-A-G c.106A>G p.N36D Missense 2/28 - 1
7-55209998-C-A c.108C>A p.N36K Missense 2/28 - 1
7-55209999-A-C c.109A>C p.K37Q Missense 2/28 - 1
7-55209999-A-G c.109A>G p.K37E Missense 2/28 - 3
7-55210000-A-G c.110A>G p.K37R Missense 2/28 - 1
7-55210000-AG-TC c.110_111delinsTC p.K37I Missense 2/28 - 1
7-55210000-A-T c.110A>T p.K37M Missense 2/28 - 4
7-55210001-G-A c.111G>A p.K37= Synonymous 2/28 - 1
7-55210001-G-T c.111G>T p.K37N Missense 2/28 - 3
7-55210002-C-A c.112C>A p.L38I Missense 2/28 - 1
7-55210002-C-G c.112C>G p.L38V Missense 2/28 - 8
7-55210002-C-T c.112C>T p.L38F Missense 2/28 - 2
7-55210002-CT-GA c.112_113delinsGA p.L38D Missense 2/28 - 1
7-55210003-T-A c.113T>A p.L38H Missense 2/28 - 1
7-55210004-C-A c.114C>A p.L38= Synonymous 2/28 - 1
7-55210005-A-C c.115A>C p.T39P Missense 2/28 - 1
7-55210005-A-G c.115A>G p.T39A Missense 2/28 - 2
7-55210005-A-T c.115A>T p.T39S Missense 2/28 - 2
7-55210006-C-A c.116C>A p.T39K Missense 2/28 - 2
7-55210006-CG-AC c.116_117delinsAC p.T39N Missense 2/28 - 3
7-55210006-C-T c.116C>T p.T39M Missense 2/28 - 12
7-55210007-G-A c.117G>A p.T39= Synonymous 2/28 - 3
7-55210007-G-C c.117G>C p.T39= Synonymous 2/28 - 1
7-55210007-G-T c.117G>T p.T39= Synonymous 2/28 - 3
7-55210008-C-A c.118C>A p.Q40K Missense 2/28 - 2
7-55210008-CA-AT c.118_119delinsAT p.Q40M Missense 2/28 - 1
7-55210008-C-T c.118C>T p.Q40* Nonsense 2/28 - 1
7-55210009-A-C c.119A>C p.Q40P Missense 2/28 - 3
7-55210009-A-T c.119A>T p.Q40L Missense 2/28 - 1
7-55210010-AG-A c.120del p.Q40Hfs*40 Frameshift 2/28 - 1
7-55210010-G-A c.120G>A p.Q40= Synonymous 2/28 - 6
7-55210010-G-C c.120G>C p.Q40H Missense 2/28 - 2
7-55210010-G-T c.120G>T p.Q40H Missense 2/28 - 3
7-55210011-T-C c.121T>C p.L41= Synonymous 2/28 - 2
7-55210011-TT-GA c.121_122delinsGA p.L41E Missense 2/28 - 2
7-55210013-G-A c.123G>A p.L41= Synonymous 2/28 - 3
7-55210012-T-C c.122T>C p.L41S Missense 2/28 - 2
7-55210012-T-G c.122T>G p.L41W Missense 2/28 - 2
7-55210013-G-T c.123G>T p.L41F Missense 2/28 - 1
7-55210014-G-A c.124G>A p.G42S Missense 2/28 - 4
7-55210014-G-C c.124G>C p.G42R Missense 2/28 - 1
7-55210014-GGC-TGA c.124_126delinsTGA p.G42* Nonsense 2/28 - 1
7-55210014-GGC-TGG c.124_126delinsTGG p.G42W Missense 2/28 - 2
7-55210014-G-T c.124G>T p.G42C Missense 2/28 - 3
7-55210015-G-A c.125G>A p.G42D Missense 2/28 - 6
7-55210015-G-C c.125G>C p.G42A Missense 2/28 - 1
7-55210015-G-T c.125G>T p.G42V Missense 2/28 - 2
7-55210016-C-A c.126C>A p.G42= Synonymous 2/28 - 2
7-55210016-C-G c.126C>G p.G42= Synonymous 2/28 - 1
7-55210016-C-T c.126C>T p.G42= Synonymous 2/28 - 1
7-55210017-A-C c.127A>C p.T43P Missense 2/28 - 1
7-55210017-AC-GA c.127_128delinsGA p.T43D Missense 2/28 - 1
7-55210017-AC-TG c.127_128delinsTG p.T43C Missense 2/28 - 1
7-55210017-A-G c.127A>G p.T43A Missense 2/28 - 4
7-55210017-A-T c.127A>T p.T43S Missense 2/28 - 1
7-55210018-C-A c.128C>A p.T43N Missense 2/28 - 1
7-55210018-C-G c.128C>G p.T43S Missense 2/28 - 1
7-55210018-C-T c.128C>T p.T43I Missense 2/28 - 1
7-55210019-T-A c.129T>A p.T43= Synonymous 2/28 - 2
7-55210019-T-C c.129T>C p.T43= Synonymous 2/28 - 2
7-55210019-T-G c.129T>G p.T43= Synonymous 2/28 - 3
7-55210020-T-A c.130T>A p.F44I Missense 2/28 - 1
7-55210020-T-C c.130T>C p.F44L Missense 2/28 - 1
7-55210020-T-G c.130T>G p.F44V Missense 2/28 - 1
7-55210020-TT-GA c.130_131delinsGA p.F44D Missense 2/28 - 1
7-55210020-TT-GC c.130_131delinsGC p.F44A Missense 2/28 - 2
7-55210020-TTT-GAG c.130_132delinsGAG p.F44E Missense 2/28 - 1
7-55210021-T-C c.131T>C p.F44S Missense 2/28 - 1
7-55210021-T-G c.131T>G p.F44C Missense 2/28 - 1
7-55210022-T-C c.132T>C p.F44= Synonymous 2/28 - 1
7-55210023-G-A c.133G>A p.E45K Missense 2/28 - 7
7-55210023-G-C c.133G>C p.E45Q Missense 2/28 - 5
7-55210024-A-C c.134A>C p.E45A Missense 2/28 - 1
7-55210026-G-A c.136G>A p.D46N Missense 2/28 - 12
7-55210026-GA-AC c.136_137delinsAC p.D46T Missense 2/28 - 1
7-55210026-GA-TG c.136_137delinsTG p.D46C Missense 2/28 - 1
7-55210026-GAT-TAA c.136_138delinsTAA p.D46* Nonsense 2/28 - 1
7-55210026-G-T c.136G>T p.D46Y Missense 2/28 - 6
7-55210027-A-T c.137A>T p.D46V Missense 2/28 - 1
7-55210028-T-A c.138T>A p.D46E Missense 2/28 - 4
7-55210028-T-C c.138T>C p.D46= Synonymous 2/28 - 2
7-55210028-T-G c.138T>G p.D46E Missense 2/28 - 4
7-55210029-C-A c.139C>A p.H47N Missense 2/28 - 1
7-55210029-CA-GC c.139_140delinsGC p.H47A Missense 2/28 - 1
7-55210029-CA-TG c.139_140inv p.H47C Missense 2/28 - 1
7-55210029-C-G c.139C>G p.H47D Missense 2/28 - 1
7-55210029-C-T c.139C>T p.H47Y Missense 2/28 - 11
7-55210030-A-G c.140A>G p.H47R Missense 2/28 - 9
7-55210030-A-T c.140A>T p.H47L Missense 2/28 - 1
7-55210031-T-A c.141T>A p.H47Q Missense 2/28 - 2
7-55210031-T-G c.141T>G p.H47Q Missense 2/28 - 1
7-55210032-TT-GA c.142_143delinsGA p.F48D Missense 2/28 - 1
7-55210032-TT-GC c.142_143delinsGC p.F48A Missense 2/28 - 1
7-55210032-TTT-CAA c.142_144delinsCAA p.F48Q Missense 2/28 - 1
7-55210033-T-A c.143T>A p.F48Y Missense 2/28 - 1
7-55210033-T-C c.143T>C p.F48S Missense 2/28 - 2
7-55210035-C-A c.145C>A p.L49I Missense 2/28 - 1
7-55210035-C-T c.145C>T p.L49F Missense 2/28 - 1
7-55210035-CT-AG c.145_146inv p.L49S Missense 2/28 - 1
7-55210036-T-A c.146T>A p.L49H Missense 2/28 - 1
7-55210036-T-C c.146T>C p.L49P Missense 2/28 - 1
7-55210037-C-A c.147C>A p.L49= Synonymous 2/28 - 2
7-55210037-C-G c.147C>G p.L49= Synonymous 2/28 - 1
7-55210037-C-T c.147C>T p.L49= Synonymous 2/28 - 2
7-55210038-A-G c.148A>G p.S50G Missense 2/28 - 1
7-55210038-AG-CC c.148_149delinsCC p.S50P Missense 2/28 - 2
7-55210038-AGC-GAG c.148_150delinsGAG p.S50E Missense 2/28 - 1
7-55210038-AG-GC c.148_149delinsGC p.S50A Missense 2/28 - 3
7-55210039-G-A c.149G>A p.S50N Missense 2/28 - 5
7-55210039-GC-AG c.149_150delinsAG p.S50K Missense 2/28 - 2
7-55210038-A-C c.148A>C p.S50R Missense 2/28 - 1
7-55210040-C-A c.150C>A p.S50R Missense 2/28 - 2
7-55210040-C-G c.150C>G p.S50R Missense 2/28 - 1
7-55210040-C-T c.150C>T p.S50= Synonymous 2/28 - 3
7-55210041-C-A c.151C>A p.L51I Missense 2/28 - 1
7-55210041-C-T c.151C>T p.L51F Missense 2/28 - 2
7-55210041-CTC-ATG c.151_153delinsATG p.L51M Missense 2/28 - 2
7-55210042-T-C c.152T>C p.L51P Missense 2/28 - 4
7-55210043-C-A c.153C>A p.L51= Synonymous 2/28 - 1
7-55210043-C-T c.153C>T p.L51= Synonymous 2/28 - 1
7-55210044-C-A c.154C>A p.Q52K Missense 2/28 - 1
7-55210044-C-T c.154C>T p.Q52* Nonsense 2/28 - 2
7-55210045-A-G c.155A>G p.Q52R Missense 2/28 - 2
7-55210046-G-A c.156G>A p.Q52= Synonymous 2/28 - 1
7-55210046-G-GA c.157dup p.R53Kfs*5 Frameshift 2/28 - 1
7-55210047-AG-CA c.157_158delinsCA p.R53Q Missense 2/28 - 1
7-55210047-AG-CT c.157_158inv p.R53L Missense 2/28 - 1
7-55210047-AGG-CAT c.157_159delinsCAT p.R53H Missense 2/28 - 1
7-55210047-AG-TA c.157_158delinsTA p.R53* Nonsense 2/28 - 3
7-55210048-G-A c.158G>A p.R53K Missense 2/28 - 6
7-55210048-G-T c.158G>T p.R53M Missense 2/28 - 2
7-55210049-G-A c.159G>A p.R53= Synonymous 2/28 - 2
7-55210049-G-C c.159G>C p.R53S Missense 2/28 - 1
7-55210049-G-GT c.159_160insT p.M54Yfs*4 Frameshift 2/28 - 1
7-55210049-G-T c.159G>T p.R53S Missense 2/28 - 2
7-55210050-A-G c.160A>G p.M54V Missense 2/28 - 1
7-55210050-AT-GG c.160_161delinsGG p.M54G Missense 2/28 - 1
7-55210050-ATG-TTT c.160_162delinsTTT p.M54F Missense 2/28 - 1
7-55210051-T-C c.161T>C p.M54T Missense 2/28 - 2
7-55210051-TG-GC c.161_162delinsGC p.M54S Missense 2/28 - 1
7-55210052-G-A c.162G>A p.M54I Missense 2/28 - 2
7-55210052-G-C c.162G>C p.M54I Missense 2/28 - 2
7-55210052-G-T c.162G>T p.M54I Missense 2/28 - 2
7-55210053-T-C c.163T>C p.F55L Missense 2/28 - 2
7-55210053-TT-GA c.163_164delinsGA p.F55D Missense 2/28 - 1
7-55210053-TT-GC c.163_164delinsGC p.F55A Missense 2/28 - 1
7-55210055-C-A c.165C>A p.F55L Missense 2/28 - 3
7-55210055-C-G c.165C>G p.F55L Missense 2/28 - 1
7-55210052-GT-G c.164del p.F55Sfs*25 Frameshift 2/28 - 1
7-55210054-T-A c.164T>A p.F55Y Missense 2/28 - 1
7-55210054-T-C c.164T>C p.F55S Missense 2/28 - 1
7-55210054-T-G c.164T>G p.F55C Missense 2/28 - 2
7-55210055-C-T c.165C>T p.F55= Synonymous 2/28 - 1
7-55210056-A-G c.166A>G p.N56D Missense 2/28 - 1
7-55210057-A-G c.167A>G p.N56S Missense 2/28 - 2
7-55210058-T-A c.168T>A p.N56K Missense 2/28 - 8
7-55210058-T-C c.168T>C p.N56= Synonymous 2/28 - 1
7-55210058-T-G c.168T>G p.N56K Missense 2/28 - 9
7-55210057-ATAACTGTGAGGTGGTCCT-A c.169_186del p.N57_L62del InFrameDeletion 2/28 - 1
7-55210059-A-C c.169A>C p.N57H Missense 2/28 - 1
7-55210059-A-G c.169A>G p.N57D Missense 2/28 - 1
7-55210059-A-T c.169A>T p.N57Y Missense 2/28 - 1
7-55210061-C-A c.171C>A p.N57K Missense 2/28 - 2
7-55210061-C-G c.171C>G p.N57K Missense 2/28 - 1
7-55210061-C-T c.171C>T p.N57= Synonymous 2/28 - 1
7-55210062-T-A c.172T>A p.C58S Missense 2/28 - 2
7-55210062-TG-GA c.172_173delinsGA p.C58D Missense 2/28 - 2
7-55210062-TG-GC c.172_173delinsGC p.C58A Missense 2/28 - 3
7-55210062-TGT-GAG c.172_174delinsGAG p.C58E Missense 2/28 - 1
7-55210063-G-C c.173G>C p.C58S Missense 2/28 - 1
7-55210063-G-A c.173G>A p.C58Y Missense 2/28 - 1
7-55210063-G-GT c.174dup p.E59* Nonsense 2/28 - 1
7-55210064-T-C c.174T>C p.C58= Synonymous 2/28 - 2
7-55210064-T-G c.174T>G p.C58W Missense 2/28 - 1
7-55210065-G-A c.175G>A p.E59K Missense 2/28 - 7
7-55210065-GAG-TAT c.175_177delinsTAT p.E59Y Missense 2/28 - 1
7-55210065-GAG-TGT c.175_177delinsTGT p.E59C Missense 2/28 - 1
7-55210065-G-C c.175G>C p.E59Q Missense 2/28 - 1
7-55210065-G-T c.175G>T p.E59* Nonsense 2/28 - 2
7-55210066-A-C c.176A>C p.E59A Missense 2/28 - 1
7-55210066-A-G c.176A>G p.E59G Missense 2/28 - 2
7-55210066-A-T c.176A>T p.E59V Missense 2/28 - 1
7-55210067-G-A c.177G>A p.E59= Synonymous 2/28 - 1
7-55210067-G-C c.177G>C p.E59D Missense 2/28 - 1
7-55210067-G-T c.177G>T p.E59D Missense 2/28 - 1
7-55210068-G-A c.178G>A p.V60M Missense 2/28 - 5
7-55210068-G-C c.178G>C p.V60L Missense 2/28 - 2
7-55210068-G-T c.178G>T p.V60L Missense 2/28 - 2
7-55210069-T-A c.179T>A p.V60E Missense 2/28 - 1
7-55210070-G-A c.180G>A p.V60= Synonymous 2/28 - 2
7-55210070-G-C c.180G>C p.V60= Synonymous 2/28 - 1
7-55210070-G-T c.180G>T p.V60= Synonymous 2/28 - 1
7-55210071-G-A c.181G>A p.V61I Missense 2/28 - 3
7-55210071-G-T c.181G>T p.V61F Missense 2/28 - 2
7-55210072-T-C c.182T>C p.V61A Missense 2/28 - 1
7-55210072-T-TGCAGCA c.182_183insGCAGCA p.V61_L62insQH InFrameInsertion 2/28 - 1
7-55210073-C-A c.183C>A p.V61= Synonymous 2/28 - 1
7-55210073-C-T c.183C>T p.V61= Synonymous 2/28 - 1
7-55210074-C-A c.184C>A p.L62I Missense 2/28 - 1
7-55210074-C-T c.184C>T p.L62F Missense 2/28 - 2
7-55210075-T-C c.185T>C p.L62P Missense 2/28 - 2
7-55210075-T-G c.185T>G p.L62R Missense 2/28 - 76
7-55210076-T-A c.186T>A p.L62= Synonymous 2/28 - 2
7-55210076-T-C c.186T>C p.L62= Synonymous 2/28 - 1
7-55210077-G-A c.187G>A p.G63R Missense 2/28 - 25
7-55210077-G-C c.187G>C p.G63R Missense 2/28 - 21
7-55210077-GG-AA c.187_188delinsAA p.G63K Missense 2/28 - 5
7-55210077-G-T c.187G>T p.G63W Missense 2/28 - 1
7-55210078-G-A c.188G>A p.G63E Missense 2/28 - 6
7-55210078-G-T c.188G>T p.G63V Missense 2/28 - 1
7-55210080-A-G c.190A>G p.N64D Missense 2/28 - 1
7-55210081-A-C c.191A>C p.N64T Missense 2/28 - 1
7-55210082-T-C c.192T>C p.N64= Synonymous 2/28 - 1
7-55210083-T-C c.193T>C p.L65= Synonymous 2/28 - 2
7-55210083-TT-AC c.193_194delinsAC p.L65T Missense 2/28 - 1
7-55210083-TT-CA c.193_194delinsCA p.L65Q Missense 2/28 - 1
7-55210083-TT-CC c.193_194delinsCC p.L65P Missense 2/28 - 1
7-55210083-TT-GC c.193_194delinsGC p.L65A Missense 2/28 - 2
7-55210083-TTG-CAT c.193_195delinsCAT p.L65H Missense 2/28 - 1
7-55210085-G-A c.195G>A p.L65= Synonymous 2/28 - 1
7-55210084-T-C c.194T>C p.L65S Missense 2/28 - 1
7-55210086-G-A c.196G>A p.E66K Missense 2/28 - 4
7-55210086-G-T c.196G>T p.E66* Nonsense 2/28 - 2
7-55210087-A-C c.197A>C p.E66A Missense 2/28 - 3
7-55210087-A-G c.197A>G p.E66G Missense 2/28 - 1
7-55210087-A-T c.197A>T p.E66V Missense 2/28 - 1
7-55210088-A-C c.198A>C p.E66D Missense 2/28 - 2
7-55210088-A-G c.198A>G p.E66= Synonymous 2/28 - 1
7-55210088-A-T c.198A>T p.E66D Missense 2/28 - 2
7-55210086-GA-G c.199del p.I67Lfs*13 Frameshift 2/28 - 1
7-55210089-A-T c.199A>T p.I67F Missense 2/28 - 1
7-55210090-T-A c.200T>A p.I67N Missense 2/28 - 1
7-55210090-T-C c.200T>C p.I67T Missense 2/28 - 1
7-55210090-T-G c.200T>G p.I67S Missense 2/28 - 1
7-55210090-TT-GG c.200_201delinsGG p.I67R Missense 2/28 - 1
7-55210091-T-A c.201T>A p.I67= Synonymous 2/28 - 5
7-55210091-T-C c.201T>C p.I67= Synonymous 2/28 - 5
7-55210092-ACC-GAG c.202_204delinsGAG p.T68E Missense 2/28 - 1
7-55210092-AC-TT c.202_203delinsTT p.T68F Missense 2/28 - 2
7-55210092-A-G c.202A>G p.T68A Missense 2/28 - 1
7-55210092-A-T c.202A>T p.T68S Missense 2/28 - 1
7-55210093-C-A c.203C>A p.T68N Missense 2/28 - 1
7-55210093-CC-TG c.203_204delinsTG p.T68M Missense 2/28 - 1
7-55210093-C-G c.203C>G p.T68S Missense 2/28 - 2
7-55210093-C-T c.203C>T p.T68I Missense 2/28 - 7
7-55210092-AC-A c.204del p.Y69Mfs*11 Frameshift 2/28 - 3
7-55210094-C-A c.204C>A p.T68= Synonymous 2/28 - 2
7-55210094-C-T c.204C>T p.T68= Synonymous 2/28 - 1
7-55210095-T-C c.205T>C p.Y69H Missense 2/28 - 1
7-55210097-T-A c.207T>A p.Y69* Nonsense 2/28 - 2
7-55210097-T-G c.207T>G p.Y69* Nonsense 2/28 - 2
7-55210098-G-A c.208G>A p.V70M Missense 2/28 - 1
7-55210098-G-C c.208G>C p.V70L Missense 2/28 - 1
7-55210098-G-T c.208G>T p.V70L Missense 2/28 - 1
7-55210098-GTG-ATC c.208_210delinsATC p.V70I Missense 2/28 - 2
7-55210098-GTG-TGT c.208_210delinsTGT p.V70C Missense 2/28 - 1
7-55210098-GTG-TTT c.208_210delinsTTT p.V70F Missense 2/28 - 1
7-55210099-T-C c.209T>C p.V70A Missense 2/28 - 3
7-55210100-G-A c.210G>A p.V70= Synonymous 2/28 - 1
7-55210101-C-A c.211C>A p.Q71K Missense 2/28 - 1
7-55210101-C-T c.211C>T p.Q71* Nonsense 2/28 - 6
7-55210102-A-C c.212A>C p.Q71P Missense 2/28 - 3
7-55210102-A-G c.212A>G p.Q71R Missense 2/28 - 10
7-55210102-A-T c.212A>T p.Q71L Missense 2/28 - 16
7-55210103-G-A c.213G>A p.Q71= Synonymous 2/28 - 2
7-55210103-G-C c.213G>C p.Q71H Missense 2/28 - 1
7-55210104-AG-CC c.214_215delinsCC p.R72P Missense 2/28 - 46
7-55210104-AG-GC c.214_215delinsGC p.R72A Missense 2/28 - 2
7-55210104-AGG-CAT c.214_216delinsCAT p.R72H Missense 2/28 - 1
7-55210104-AGG-TGT c.214_216delinsTGT p.R72C Missense 2/28 - 1
7-55210105-G-A c.215G>A p.R72K Missense 2/28 - 2
7-55210105-G-C c.215G>C p.R72T Missense 2/28 - 3
7-55210105-GG-TC c.215_216delinsTC p.R72I Missense 2/28 - 1
7-55210105-G-T c.215G>T p.R72M Missense 2/28 - 1
7-55210104-A-C c.214A>C p.R72= Synonymous 2/28 - 1
7-55210106-G-A c.216G>A p.R72= Synonymous 2/28 - 1
7-55210106-G-GC c.216_217insC p.N73Qfs*3 Frameshift 2/28 - 1
7-55210108-A-C c.218A>C p.N73T Missense 2/28 - 1
7-55210108-A-G c.218A>G p.N73S Missense 2/28 - 3
7-55210109-T-C c.219T>C p.N73= Synonymous 2/28 - 1
7-55210109-T-G c.219T>G p.N73K Missense 2/28 - 1
7-55210110-T-A c.220T>A p.Y74N Missense 2/28 - 1
7-55210110-TA-GC c.220_221delinsGC p.Y74A Missense 2/28 - 1
7-55210110-T-C c.220T>C p.Y74H Missense 2/28 - 2
7-55210110-T-G c.220T>G p.Y74D Missense 2/28 - 2
7-55210111-A-C c.221A>C p.Y74S Missense 2/28 - 1
7-55210111-A-G c.221A>G p.Y74C Missense 2/28 - 3
7-55210111-A-T c.221A>T p.Y74F Missense 2/28 - 2
7-55210112-T-C c.222T>C p.Y74= Synonymous 2/28 - 3
7-55210113-G-A c.223G>A p.D75N Missense 2/28 - 4
7-55210113-GA-TT c.223_224delinsTT p.D75F Missense 2/28 - 1
7-55210113-G-C c.223G>C p.D75H Missense 2/28 - 2
7-55210113-G-T c.223G>T p.D75Y Missense 2/28 - 2
7-55210114-A-C c.224A>C p.D75A Missense 2/28 - 1
7-55210114-A-T c.224A>T p.D75V Missense 2/28 - 1
7-55210115-T-C c.225T>C p.D75= Synonymous 2/28 - 3
7-55210116-C-A c.226C>A p.L76I Missense 2/28 - 4
7-55210116-C-G c.226C>G p.L76V Missense 2/28 - 3
7-55210116-C-T c.226C>T p.L76F Missense 2/28 - 1
7-55210116-CT-GC c.226_227delinsGC p.L76A Missense 2/28 - 1
7-55210117-T-C c.227T>C p.L76P Missense 2/28 - 3
7-55210118-T-A c.228T>A p.L76= Synonymous 2/28 - 1
7-55210118-T-C c.228T>C p.L76= Synonymous 2/28 - 1
7-55210118-T-G c.228T>G p.L76= Synonymous 2/28 - 1
7-55210118-TTTCCTTCTTAAA-T c.228_239del p.S77_K80del SpliceDonorDeletion 2/28 - 1
7-55210119-T-A c.229T>A p.S77T Missense 2/28 - 1
7-55210119-T-G c.229T>G p.S77A Missense 2/28 - 1
7-55210120-CC-AA c.230_231delinsAA p.S77* Nonsense 2/28 - 1
7-55210120-C-G c.230C>G p.S77C Missense 2/28 - 1
7-55210120-C-T c.230C>T p.S77F Missense 2/28 - 8
7-55210121-C-A c.231C>A p.S77= Synonymous 2/28 - 2
7-55210121-C-G c.231C>G p.S77= Synonymous 2/28 - 2
7-55210121-C-T c.231C>T p.S77= Synonymous 2/28 - 2
7-55210122-T-C c.232T>C p.F78L Missense 2/28 - 4
7-55210122-TTC-GAG c.232_234delinsGAG p.F78E Missense 2/28 - 1
7-55210124-C-A c.234C>A p.F78L Missense 2/28 - 5
7-55210124-C-G c.234C>G p.F78L Missense 2/28 - 5
7-55210123-TC-AA c.233_234delinsAA p.F78* Nonsense 2/28 - 1
7-55210124-C-T c.234C>T p.F78= Synonymous 2/28 - 3
7-55210125-T-A c.235T>A p.L79I Missense 2/28 - 1
7-55210125-T-C c.235T>C p.L79= Synonymous 2/28 - 1
7-55210125-T-G c.235T>G p.L79V Missense 2/28 - 1
7-55210125-TTA-ATG c.235_237delinsATG p.L79M Missense 2/28 - 1
7-55210125-TT-AG c.235_236delinsAG p.L79R Missense 2/28 - 1
7-55210126-T-A c.236T>A p.L79* Nonsense 2/28 - 1
7-55210126-T-G c.236T>G p.L79* Nonsense 2/28 - 1
7-55210127-A-T c.237A>T p.L79F Missense 2/28 - 1
7-55210128-AA-GC c.238_239delinsGC p.K80A Missense 2/28 - 2
7-55210128-A-G c.238A>G p.K80E Missense 2/28 - 1
7-55210129-A-C c.239A>C p.K80T Missense 2/28 - 2
7-55210129-A-G c.239A>G p.K80R Missense 2/28 - 1
7-55210129-A-T c.239A>T p.K80M Missense 2/28 - 1
7-55210130-AGGTTGGTGACTTTGATTTTCCTACACAAATAAAATTGGAGAAAATCTAAGTGGAGAAAG-A c.240+1_240+59del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/28 2/27 1
7-55210130-G-A c.240G>A p.K80= Synonymous 2/28 - 1
7-55210130-G-C c.240G>C p.K80N Missense 2/28 - 1
7-55210130-G-T c.240G>T p.K80N Missense 2/28 - 1
7-55210131-G-A c.240+1G>A - IntronicSNV - 2/27 1
7-55210134-G-T c.240+4G>T - IntronicSNV - 2/27 1
7-55210139-C-A c.240+9C>A - IntronicSNV - 2/27 1
7-55210140-T-A c.240+10T>A - IntronicSNV - 2/27 1
7-55210140-T-C c.240+10T>C - IntronicSNV - 2/27 1
7-55210141-T-A c.240+11T>A - IntronicSNV - 2/27 1
7-55210142-T-A c.240+12T>A - IntronicSNV - 2/27 1
7-55210182-G-GA c.240+53dup - IntronicInsertion - 2/27 1
7-55210187-A-G c.240+57A>G - IntronicSNV - 2/27 1
7-55210188-G-A c.240+58G>A - IntronicSNV - 2/27 2
7-55210261-G-T c.240+131G>T - IntronicSNV - 2/27 1
7-55210733-G-A c.241-265G>A - IntronicSNV - 2/27 2
7-55210733-G-C c.241-265G>C - IntronicSNV - 2/27 2
7-55210990-C-G c.241-8C>G - IntronicSNV - 2/27 1
7-55210998-A-C c.241A>C p.T81P Missense 3/28 - 1
7-55210998-AC-GA c.241_242delinsGA p.T81D Missense 3/28 - 1
7-55210998-AC-TG c.241_242delinsTG p.T81C Missense 3/28 - 4
7-55210998-A-G c.241A>G p.T81A Missense 3/28 - 1
7-55210999-C-A c.242C>A p.T81N Missense 3/28 - 1
7-55210999-C-T c.242C>T p.T81I Missense 3/28 - 1
7-55211000-C-A c.243C>A p.T81= Synonymous 3/28 - 1
7-55211001-A-G c.244A>G p.I82V Missense 3/28 - 3
7-55211001-AT-GC c.244_245delinsGC p.I82A Missense 3/28 - 3
7-55211002-T-C c.245T>C p.I82T Missense 3/28 - 2
7-55211003-C-A c.246C>A p.I82= Synonymous 3/28 - 1
7-55211003-C-T c.246C>T p.I82= Synonymous 3/28 - 1
7-55211002-TC-T c.247del p.Q83Rfs*37 Frameshift 3/28 - 1
7-55211004-C-A c.247C>A p.Q83K Missense 3/28 - 2
7-55211004-C-G c.247C>G p.Q83E Missense 3/28 - 1
7-55211004-C-T c.247C>T p.Q83* Nonsense 3/28 - 6
7-55211005-A-G c.248A>G p.Q83R Missense 3/28 - 1
7-55211007-G-A c.250G>A p.E84K Missense 3/28 - 2
7-55211007-G-C c.250G>C p.E84Q Missense 3/28 - 1
7-55211008-A-C c.251A>C p.E84A Missense 3/28 - 2
7-55211008-A-G c.251A>G p.E84G Missense 3/28 - 2
7-55211008-A-T c.251A>T p.E84V Missense 3/28 - 18
7-55211009-G-A c.252G>A p.E84= Synonymous 3/28 - 1
7-55211009-G-C c.252G>C p.E84D Missense 3/28 - 3
7-55211010-G-A c.253G>A p.V85M Missense 3/28 - 7
7-55211011-T-A c.254T>A p.V85E Missense 3/28 - 1
7-55211011-T-G c.254T>G p.V85G Missense 3/28 - 1
7-55211012-G-A c.255G>A p.V85= Synonymous 3/28 - 1
7-55211012-G-T c.255G>T p.V85= Synonymous 3/28 - 1
7-55211013-G-A c.256G>A p.A86T Missense 3/28 - 5
7-55211013-GCT-AAG c.256_258delinsAAG p.A86K Missense 3/28 - 2
7-55211013-GCT-ATG c.256_258delinsATG p.A86M Missense 3/28 - 2
7-55211013-GC-TT c.256_257delinsTT p.A86F Missense 3/28 - 2
7-55211013-GCT-TAA c.256_258delinsTAA p.A86* Nonsense 3/28 - 3
7-55211014-C-A c.257C>A p.A86D Missense 3/28 - 4
7-55211014-C-T c.257C>T p.A86V Missense 3/28 - 4
7-55211014-CT-AG c.257_258inv p.A86E Missense 3/28 - 5
7-55211015-T-A c.258T>A p.A86= Synonymous 3/28 - 3
7-55211015-T-C c.258T>C p.A86= Synonymous 3/28 - 2
7-55211015-T-G c.258T>G p.A86= Synonymous 3/28 - 2
7-55211016-G-A c.259G>A p.G87S Missense 3/28 - 2
7-55211016-GGT-TGA c.259_261delinsTGA p.G87* Nonsense 3/28 - 1
7-55211016-G-T c.259G>T p.G87C Missense 3/28 - 6
7-55211017-G-A c.260G>A p.G87D Missense 3/28 - 4
7-55211017-G-C c.260G>C p.G87A Missense 3/28 - 1
7-55211017-G-T c.260G>T p.G87V Missense 3/28 - 1
7-55211017-GT-AG c.260_261delinsAG p.G87E Missense 3/28 - 1
7-55211018-T-A c.261T>A p.G87= Synonymous 3/28 - 1
7-55211018-T-C c.261T>C p.G87= Synonymous 3/28 - 1
7-55211018-T-G c.261T>G p.G87= Synonymous 3/28 - 1
7-55211019-TA-GC c.262_263delinsGC p.Y88A Missense 3/28 - 1
7-55211019-T-C c.262T>C p.Y88H Missense 3/28 - 1
7-55211020-A-C c.263A>C p.Y88S Missense 3/28 - 1
7-55211020-A-G c.263A>G p.Y88C Missense 3/28 - 9
7-55211020-A-T c.263A>T p.Y88F Missense 3/28 - 1
7-55211021-T-C c.264T>C p.Y88= Synonymous 3/28 - 1
7-55211022-G-A c.265G>A p.V89I Missense 3/28 - 1
7-55211022-G-C c.265G>C p.V89L Missense 3/28 - 4
7-55211022-G-T c.265G>T p.V89F Missense 3/28 - 1
7-55211022-GTC-ATG c.265_267delinsATG p.V89M Missense 3/28 - 3
7-55211022-GTC-TGG c.265_267delinsTGG p.V89W Missense 3/28 - 1
7-55211023-T-C c.266T>C p.V89A Missense 3/28 - 3
7-55211024-C-A c.267C>A p.V89= Synonymous 3/28 - 3
7-55211024-C-G c.267C>G p.V89= Synonymous 3/28 - 2
7-55211024-C-T c.267C>T p.V89= Synonymous 3/28 - 2
7-55211025-C-A c.268C>A p.L90I Missense 3/28 - 3
7-55211025-C-G c.268C>G p.L90V Missense 3/28 - 1
7-55211025-C-T c.268C>T p.L90F Missense 3/28 - 8
7-55211025-CTC-ATG c.268_270delinsATG p.L90M Missense 3/28 - 1
7-55211026-T-A c.269T>A p.L90H Missense 3/28 - 3
7-55211026-T-C c.269T>C p.L90P Missense 3/28 - 1
7-55211027-C-A c.270C>A p.L90= Synonymous 3/28 - 2
7-55211027-C-G c.270C>G p.L90= Synonymous 3/28 - 1
7-55211027-C-T c.270C>T p.L90= Synonymous 3/28 - 1
7-55211028-A-C c.271A>C p.I91L Missense 3/28 - 1
7-55211028-A-G c.271A>G p.I91V Missense 3/28 - 11
7-55211029-T-A c.272T>A p.I91N Missense 3/28 - 1
7-55211029-T-G c.272T>G p.I91S Missense 3/28 - 1
7-55211030-T-A c.273T>A p.I91= Synonymous 3/28 - 1
7-55211030-T-C c.273T>C p.I91= Synonymous 3/28 - 3
7-55211030-T-G c.273T>G p.I91M Missense 3/28 - 1
7-55211031-G-A c.274G>A p.A92T Missense 3/28 - 4
7-55211031-GC-AA c.274_275delinsAA p.A92N Missense 3/28 - 1
7-55211031-GCC-ATG c.274_276delinsATG p.A92M Missense 3/28 - 1
7-55211031-GCC-CAA c.274_276delinsCAA p.A92Q Missense 3/28 - 1
7-55211031-GC-CG c.274_275delinsCG p.A92R Missense 3/28 - 1
7-55211031-GCC-TAA c.274_276delinsTAA p.A92* Nonsense 3/28 - 1
7-55211031-GC-TG c.274_275delinsTG p.A92C Missense 3/28 - 2
7-55211031-GC-TT c.274_275delinsTT p.A92F Missense 3/28 - 3
7-55211031-G-T c.274G>T p.A92S Missense 3/28 - 1
7-55211032-C-A c.275C>A p.A92D Missense 3/28 - 7
7-55211032-CC-AG c.275_276delinsAG p.A92E Missense 3/28 - 4
7-55211032-C-T c.275C>T p.A92V Missense 3/28 - 6
7-55211033-C-A c.276C>A p.A92= Synonymous 3/28 - 3
7-55211033-C-G c.276C>G p.A92= Synonymous 3/28 - 2
7-55211033-C-T c.276C>T p.A92= Synonymous 3/28 - 3
7-55211034-C-A c.277C>A p.L93I Missense 3/28 - 3
7-55211034-CTC-TAA c.277_279delinsTAA p.L93* Nonsense 3/28 - 1
7-55211035-CT-C c.278del p.L93Pfs*27 Frameshift 3/28 - 1
7-55211035-T-A c.278T>A p.L93H Missense 3/28 - 1
7-55211035-T-C c.278T>C p.L93P Missense 3/28 - 1
7-55211035-T-G c.278T>G p.L93R Missense 3/28 - 1
7-55211036-C-A c.279C>A p.L93= Synonymous 3/28 - 2
7-55211036-C-T c.279C>T p.L93= Synonymous 3/28 - 1
7-55211038-A-G c.281A>G p.N94S Missense 3/28 - 1
7-55211038-A-T c.281A>T p.N94I Missense 3/28 - 1
7-55211039-C-A c.282C>A p.N94K Missense 3/28 - 1
7-55211039-C-T c.282C>T p.N94= Synonymous 3/28 - 2
7-55211040-A-C c.283A>C p.T95P Missense 3/28 - 2
7-55211040-A-G c.283A>G p.T95A Missense 3/28 - 2
7-55211041-C-A c.284C>A p.T95K Missense 3/28 - 1
7-55211041-CA-TG c.284_285inv p.T95M Missense 3/28 - 3
7-55211041-C-T c.284C>T p.T95I Missense 3/28 - 6
7-55211042-A-C c.285A>C p.T95= Synonymous 3/28 - 1
7-55211042-A-G c.285A>G p.T95= Synonymous 3/28 - 1
7-55211043-G-A c.286G>A p.V96M Missense 3/28 - 4
7-55211043-G-T c.286G>T p.V96L Missense 3/28 - 1
7-55211043-GT-AC c.286_287inv p.V96T Missense 3/28 - 1
7-55211043-GTG-ATC c.286_288delinsATC p.V96I Missense 3/28 - 2
7-55211044-T-A c.287T>A p.V96E Missense 3/28 - 1
7-55211044-T-C c.287T>C p.V96A Missense 3/28 - 1
7-55211046-G-A c.289G>A p.E97K Missense 3/28 - 1
7-55211046-G-C c.289G>C p.E97Q Missense 3/28 - 8
7-55211047-A-C c.290A>C p.E97A Missense 3/28 - 1
7-55211047-A-G c.290A>G p.E97G Missense 3/28 - 1
7-55211048-G-C c.291G>C p.E97D Missense 3/28 - 1
7-55211048-G-T c.291G>T p.E97D Missense 3/28 - 1
7-55211049-C-A c.292C>A p.R98= Synonymous 3/28 - 2
7-55211049-CGA-TGG c.292_294delinsTGG p.R98W Missense 3/28 - 2
7-55211049-CGA-TGT c.292_294delinsTGT p.R98C Missense 3/28 - 4
7-55211049-C-T c.292C>T p.R98* Nonsense 3/28 - 9
7-55211051-A-C c.294A>C p.R98= Synonymous 3/28 - 1
7-55211051-A-G c.294A>G p.R98= Synonymous 3/28 - 2
7-55211051-A-T c.294A>T p.R98= Synonymous 3/28 - 2
7-55211050-G-A c.293G>A p.R98Q Missense 3/28 - 22
7-55211050-GA-AT c.293_294delinsAT p.R98H Missense 3/28 - 2
7-55211050-G-T c.293G>T p.R98L Missense 3/28 - 10
7-55211052-AATTCCTTT-A c.295_302del p.I99Gfs*23 Frameshift 3/28 - 1
7-55211053-T-C c.296T>C p.I99T Missense 3/28 - 1
7-55211054-T-C c.297T>C p.I99= Synonymous 3/28 - 1
7-55211054-T-G c.297T>G p.I99M Missense 3/28 - 2
7-55211055-C-A c.298C>A p.P100T Missense 3/28 - 4
7-55211055-CCT-AAG c.298_300delinsAAG p.P100K Missense 3/28 - 1
7-55211055-CC-TT c.298_299delinsTT p.P100F Missense 3/28 - 1
7-55211055-C-G c.298C>G p.P100A Missense 3/28 - 7
7-55211055-C-T c.298C>T p.P100S Missense 3/28 - 14
7-55211056-C-A c.299C>A p.P100H Missense 3/28 - 3
7-55211056-C-T c.299C>T p.P100L Missense 3/28 - 1
7-55211057-T-A c.300T>A p.P100= Synonymous 3/28 - 1
7-55211057-T-C c.300T>C p.P100= Synonymous 3/28 - 2
7-55211057-T-G c.300T>G p.P100= Synonymous 3/28 - 1
7-55211058-T-C c.301T>C p.L101= Synonymous 3/28 - 1
7-55211058-TT-AG c.301_302delinsAG p.L101R Missense 3/28 - 1
7-55211058-TT-CC c.301_302delinsCC p.L101P Missense 3/28 - 1
7-55211059-T-A c.302T>A p.L101* Nonsense 3/28 - 2
7-55211059-T-G c.302T>G p.L101W Missense 3/28 - 1
7-55211059-TG-GT c.302_303delinsGT p.L101C Missense 3/28 - 1
7-55211060-G-A c.303G>A p.L101= Synonymous 3/28 - 3
7-55211060-G-C c.303G>C p.L101F Missense 3/28 - 4
7-55211060-G-T c.303G>T p.L101F Missense 3/28 - 6
7-55211061-G-A c.304G>A p.E102K Missense 3/28 - 1
7-55211061-G-C c.304G>C p.E102Q Missense 3/28 - 1
7-55211061-GGAAAACCTGCAGAT-G c.304_317del p.E102Hfs*18 Frameshift 3/28 - 1
7-55211061-G-T c.304G>T p.E102* Nonsense 3/28 - 3
7-55211062-A-C c.305A>C p.E102A Missense 3/28 - 2
7-55211062-A-T c.305A>T p.E102V Missense 3/28 - 1
7-55211063-A-C c.306A>C p.E102D Missense 3/28 - 1
7-55211063-A-T c.306A>T p.E102D Missense 3/28 - 1
7-55211064-AA-GC c.307_308delinsGC p.N103A Missense 3/28 - 1
7-55211063-AAACCTGC-A c.308_314del p.N103Rfs*15 Frameshift 3/28 - 1
7-55211065-A-C c.308A>C p.N103T Missense 3/28 - 1
7-55211065-A-T c.308A>T p.N103I Missense 3/28 - 1
7-55211066-C-A c.309C>A p.N103K Missense 3/28 - 1
7-55211066-C-T c.309C>T p.N103= Synonymous 3/28 - 1
7-55211067-C-A c.310C>A p.L104M Missense 3/28 - 1
7-55211067-C-G c.310C>G p.L104V Missense 3/28 - 1
7-55211067-CT-GA c.310_311delinsGA p.L104E Missense 3/28 - 1
7-55211067-CTG-ATC c.310_312delinsATC p.L104I Missense 3/28 - 1
7-55211068-T-A c.311T>A p.L104Q Missense 3/28 - 2
7-55211068-T-C c.311T>C p.L104P Missense 3/28 - 1
7-55211068-T-G c.311T>G p.L104R Missense 3/28 - 1
7-55211068-TG-AT c.311_312delinsAT p.L104H Missense 3/28 - 1
7-55211069-G-A c.312G>A p.L104= Synonymous 3/28 - 1
7-55211069-G-C c.312G>C p.L104= Synonymous 3/28 - 1
7-55211069-G-T c.312G>T p.L104= Synonymous 3/28 - 1
7-55211070-C-A c.313C>A p.Q105K Missense 3/28 - 3
7-55211070-CAG-GAC c.313_315delinsGAC p.Q105D Missense 3/28 - 1
7-55211070-CAG-TGT c.313_315delinsTGT p.Q105C Missense 3/28 - 1
7-55211070-C-T c.313C>T p.Q105* Nonsense 3/28 - 4
7-55211071-A-C c.314A>C p.Q105P Missense 3/28 - 1
7-55211072-G-A c.315G>A p.Q105= Synonymous 3/28 - 3
7-55211072-G-C c.315G>C p.Q105H Missense 3/28 - 13
7-55211072-G-T c.315G>T p.Q105H Missense 3/28 - 8
7-55211073-A-G c.316A>G p.I106V Missense 3/28 - 4
7-55211074-T-G c.317T>G p.I106S Missense 3/28 - 1
7-55211075-C-A c.318C>A p.I106= Synonymous 3/28 - 1
7-55211075-C-G c.318C>G p.I106M Missense 3/28 - 2
7-55211075-C-T c.318C>T p.I106= Synonymous 3/28 - 4
7-55211075-TC-T c.318del p.I107Sfs*13 Frameshift 3/28 - 1
7-55211076-A-G c.319A>G p.I107V Missense 3/28 - 2
7-55211076-A-T c.319A>T p.I107F Missense 3/28 - 2
7-55211077-T-C c.320T>C p.I107T Missense 3/28 - 1
7-55211077-T-G c.320T>G p.I107S Missense 3/28 - 1
7-55211078-C-A c.321C>A p.I107= Synonymous 3/28 - 2
7-55211078-C-T c.321C>T p.I107= Synonymous 3/28 - 1
7-55211079-A-G c.322A>G p.R108G Missense 3/28 - 30
7-55211079-AGA-CAT c.322_324delinsCAT p.R108H Missense 3/28 - 6
7-55211079-AGA-TGG c.322_324delinsTGG p.R108W Missense 3/28 - 1
7-55211079-AGA-TGT c.322_324delinsTGT p.R108C Missense 3/28 - 1
7-55211079-AG-CA c.322_323delinsCA p.R108Q Missense 3/28 - 2
7-55211079-A-T c.322A>T p.R108* Nonsense 3/28 - 1
7-55211079-CAGA-C c.322_324del p.R108del InFrameDeletion 3/28 - 2
7-55211080-G-A c.323G>A p.R108K Missense 3/28 - 164
7-55211080-G-C c.323G>C p.R108T Missense 3/28 - 1
7-55211080-G-T c.323G>T p.R108I Missense 3/28 - 1
7-55211079-A-C c.322A>C p.R108= Synonymous 3/28 - 1
7-55211081-A-G c.324A>G p.R108= Synonymous 3/28 - 1
7-55211082-G-A c.325G>A p.G109R Missense 3/28 - 1
7-55211083-G-A c.326G>A p.G109E Missense 3/28 - 4
7-55211083-G-C c.326G>C p.G109A Missense 3/28 - 3
7-55211083-G-T c.326G>T p.G109V Missense 3/28 - 1
7-55211087-T-C c.330T>C p.N110= Synonymous 3/28 - 1
7-55211088-A-G c.331A>G p.M111V Missense 3/28 - 1
7-55211089-T-C c.332T>C p.M111T Missense 3/28 - 5
7-55211090-G-A c.333G>A p.M111I Missense 3/28 - 5
7-55211090-G-C c.333G>C p.M111I Missense 3/28 - 5
7-55211090-G-T c.333G>T p.M111I Missense 3/28 - 7
7-55211091-T-A c.334T>A p.Y112N Missense 3/28 - 3
7-55211091-TAC-GAG c.334_336delinsGAG p.Y112E Missense 3/28 - 1
7-55211091-T-C c.334T>C p.Y112H Missense 3/28 - 1
7-55211092-A-C c.335A>C p.Y112S Missense 3/28 - 3
7-55211092-A-G c.335A>G p.Y112C Missense 3/28 - 3
7-55211092-A-T c.335A>T p.Y112F Missense 3/28 - 4
7-55211093-C-A c.336C>A p.Y112* Nonsense 3/28 - 1
7-55211093-C-T c.336C>T p.Y112= Synonymous 3/28 - 1
7-55211094-T-C c.337T>C p.Y113H Missense 3/28 - 1
7-55211095-A-G c.338A>G p.Y113C Missense 3/28 - 1
7-55211095-A-T c.338A>T p.Y113F Missense 3/28 - 3
7-55211095-TACGAAAATTCCTATGCCTTAGCAGTCTTATCTAACTATGATGCAAATAAAACCGGACTG-T c.339_397del p.Y113* Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/28 - 1
7-55211096-C-A c.339C>A p.Y113* Nonsense 3/28 - 1
7-55211096-C-T c.339C>T p.Y113= Synonymous 3/28 - 6
7-55211097-G-A c.340G>A p.E114K Missense 3/28 - 57
7-55211097-G-C c.340G>C p.E114Q Missense 3/28 - 1
7-55211097-G-T c.340G>T p.E114* Nonsense 3/28 - 1
7-55211098-A-C c.341A>C p.E114A Missense 3/28 - 1
7-55211098-A-G c.341A>G p.E114G Missense 3/28 - 1
7-55211098-A-T c.341A>T p.E114V Missense 3/28 - 1
7-55211100-A-C c.343A>C p.N115H Missense 3/28 - 3
7-55211097-G-GA c.344dup p.N115Kfs*10 Frameshift 3/28 - 1
7-55211101-A-C c.344A>C p.N115T Missense 3/28 - 1
7-55211101-A-G c.344A>G p.N115S Missense 3/28 - 1
7-55211101-A-T c.344A>T p.N115I Missense 3/28 - 2
7-55211102-T-A c.345T>A p.N115K Missense 3/28 - 5
7-55211102-T-G c.345T>G p.N115K Missense 3/28 - 4
7-55211101-A-AT c.346dup p.S116Ffs*9 Frameshift 3/28 - 1
7-55211103-TC-AA c.346_347delinsAA p.S116N Missense 3/28 - 1
7-55211103-TC-GA c.346_347inv p.S116D Missense 3/28 - 1
7-55211103-T-G c.346T>G p.S116A Missense 3/28 - 2
7-55211104-C-A c.347C>A p.S116Y Missense 3/28 - 2
7-55211104-CC-AA c.347_348delinsAA p.S116* Nonsense 3/28 - 1
7-55211104-C-G c.347C>G p.S116C Missense 3/28 - 2
7-55211104-C-T c.347C>T p.S116F Missense 3/28 - 14
7-55211105-C-A c.348C>A p.S116= Synonymous 3/28 - 2
7-55211105-C-G c.348C>G p.S116= Synonymous 3/28 - 1
7-55211105-C-T c.348C>T p.S116= Synonymous 3/28 - 6
7-55211106-TA-CT c.349_350delinsCT p.Y117L Missense 3/28 - 1
7-55211106-T-C c.349T>C p.Y117H Missense 3/28 - 2
7-55211106-T-G c.349T>G p.Y117D Missense 3/28 - 2
7-55211107-A-G c.350A>G p.Y117C Missense 3/28 - 3
7-55211107-A-T c.350A>T p.Y117F Missense 3/28 - 2
7-55211108-T-C c.351T>C p.Y117= Synonymous 3/28 - 2
7-55211109-G-A c.352G>A p.A118T Missense 3/28 - 1
7-55211109-G-C c.352G>C p.A118P Missense 3/28 - 2
7-55211109-GC-TG c.352_353delinsTG p.A118C Missense 3/28 - 2
7-55211109-G-T c.352G>T p.A118S Missense 3/28 - 7
7-55211110-C-A c.353C>A p.A118D Missense 3/28 - 3
7-55211110-C-G c.353C>G p.A118G Missense 3/28 - 11
7-55211110-C-T c.353C>T p.A118V Missense 3/28 - 6
7-55211109-GC-G c.354del p.L119* Frameshift 3/28 - 1
7-55211111-C-A c.354C>A p.A118= Synonymous 3/28 - 4
7-55211111-C-G c.354C>G p.A118= Synonymous 3/28 - 3
7-55211111-C-T c.354C>T p.A118= Synonymous 3/28 - 4
7-55211112-T-A c.355T>A p.L119I Missense 3/28 - 2
7-55211112-TTA-ATG c.355_357delinsATG p.L119M Missense 3/28 - 1
7-55211113-T-C c.356T>C p.L119S Missense 3/28 - 3
7-55211115-G-A c.358G>A p.A120T Missense 3/28 - 3
7-55211115-G-C c.358G>C p.A120P Missense 3/28 - 4
7-55211116-C-A c.359C>A p.A120E Missense 3/28 - 4
7-55211116-CA-AC c.359_360delinsAC p.A120D Missense 3/28 - 1
7-55211116-C-G c.359C>G p.A120G Missense 3/28 - 1
7-55211116-C-T c.359C>T p.A120V Missense 3/28 - 5
7-55211117-A-C c.360A>C p.A120= Synonymous 3/28 - 1
7-55211117-A-G c.360A>G p.A120= Synonymous 3/28 - 1
7-55211117-A-T c.360A>T p.A120= Synonymous 3/28 - 2
7-55211118-G-A c.361G>A p.V121I Missense 3/28 - 2
7-55211118-G-C c.361G>C p.V121L Missense 3/28 - 1
7-55211118-G-T c.361G>T p.V121F Missense 3/28 - 7
7-55211119-T-C c.362T>C p.V121A Missense 3/28 - 1
7-55211120-C-A c.363C>A p.V121= Synonymous 3/28 - 2
7-55211120-C-G c.363C>G p.V121= Synonymous 3/28 - 1
7-55211120-C-T c.363C>T p.V121= Synonymous 3/28 - 1
7-55211121-T-A c.364T>A p.L122I Missense 3/28 - 2
7-55211121-T-G c.364T>G p.L122V Missense 3/28 - 2
7-55211121-TT-AG c.364_365delinsAG p.L122R Missense 3/28 - 1
7-55211121-TTATC-T c.367_370del p.S123Tfs*9 Frameshift 3/28 - 1
7-55211124-T-C c.367T>C p.S123P Missense 3/28 - 1
7-55211124-TC-CG c.367_368delinsCG p.S123R Missense 3/28 - 1
7-55211124-T-G c.367T>G p.S123A Missense 3/28 - 4
7-55211125-C-A c.368C>A p.S123Y Missense 3/28 - 2
7-55211125-C-T c.368C>T p.S123F Missense 3/28 - 9
7-55211125-C-CTGA c.369_370insGAT p.S123_N124insD InFrameInsertion 3/28 - 1
7-55211126-T-A c.369T>A p.S123= Synonymous 3/28 - 1
7-55211126-T-C c.369T>C p.S123= Synonymous 3/28 - 1
7-55211126-T-G c.369T>G p.S123= Synonymous 3/28 - 1
7-55211127-A-C c.370A>C p.N124H Missense 3/28 - 1
7-55211127-A-G c.370A>G p.N124D Missense 3/28 - 1
7-55211127-A-T c.370A>T p.N124Y Missense 3/28 - 2
7-55211128-A-T c.371A>T p.N124I Missense 3/28 - 1
7-55211129-C-A c.372C>A p.N124K Missense 3/28 - 3
7-55211129-C-G c.372C>G p.N124K Missense 3/28 - 2
7-55211129-C-T c.372C>T p.N124= Synonymous 3/28 - 2
7-55211130-T-C c.373T>C p.Y125H Missense 3/28 - 1
7-55211131-A-G c.374A>G p.Y125C Missense 3/28 - 2
7-55211131-A-T c.374A>T p.Y125F Missense 3/28 - 1
7-55211133-G-A c.376G>A p.D126N Missense 3/28 - 3
7-55211133-G-C c.376G>C p.D126H Missense 3/28 - 1
7-55211133-G-T c.376G>T p.D126Y Missense 3/28 - 1
7-55211135-T-C c.378T>C p.D126= Synonymous 3/28 - 1
7-55211136-G-A c.379G>A p.A127T Missense 3/28 - 9
7-55211136-G-C c.379G>C p.A127P Missense 3/28 - 1
7-55211136-G-T c.379G>T p.A127S Missense 3/28 - 1
7-55211136-TG-T c.379del p.A127Qfs*6 Frameshift 3/28 - 1
7-55211137-C-A c.380C>A p.A127E Missense 3/28 - 4
7-55211137-C-T c.380C>T p.A127V Missense 3/28 - 6
7-55211138-A-C c.381A>C p.A127= Synonymous 3/28 - 2
7-55211138-A-G c.381A>G p.A127= Synonymous 3/28 - 2
7-55211138-A-T c.381A>T p.A127= Synonymous 3/28 - 4
7-55211138-CAAATAAAACCGGACTGAAGGAGCTGCCCATGAGAAATTTACAGGGTGAGAGGCTGGGAT-C c.381_424+15del - SpliceDonorDeletion 3/28 3/27 1
7-55211139-A-C c.382A>C p.N128H Missense 3/28 - 1
7-55211139-A-G c.382A>G p.N128D Missense 3/28 - 2
7-55211137-CA-C c.383del p.N128Ifs*5 Frameshift 3/28 - 1
7-55211140-A-G c.383A>G p.N128S Missense 3/28 - 2
7-55211141-T-A c.384T>A p.N128K Missense 3/28 - 1
7-55211141-T-TAG c.385_386insGA p.K129Rfs*5 Frameshift 3/28 - 1
7-55211142-AA-GC c.385_386delinsGC p.K129A Missense 3/28 - 2
7-55211142-A-C c.385A>C p.K129Q Missense 3/28 - 1
7-55211142-A-G c.385A>G p.K129E Missense 3/28 - 2
7-55211143-AA-TG c.386_387delinsTG p.K129M Missense 3/28 - 1
7-55211143-A-C c.386A>C p.K129T Missense 3/28 - 1
7-55211143-A-G c.386A>G p.K129R Missense 3/28 - 1
7-55211144-A-C c.387A>C p.K129N Missense 3/28 - 1
7-55211144-A-G c.387A>G p.K129= Synonymous 3/28 - 1
7-55211144-A-T c.387A>T p.K129N Missense 3/28 - 1
7-55211145-A-G c.388A>G p.T130A Missense 3/28 - 2
7-55211146-C-A c.389C>A p.T130N Missense 3/28 - 1
7-55211146-CC-TG c.389_390delinsTG p.T130M Missense 3/28 - 1
7-55211146-C-T c.389C>T p.T130I Missense 3/28 - 2
7-55211147-C-A c.390C>A p.T130= Synonymous 3/28 - 3
7-55211147-C-G c.390C>G p.T130= Synonymous 3/28 - 3
7-55211147-C-T c.390C>T p.T130= Synonymous 3/28 - 3
7-55211148-G-A c.391G>A p.G131R Missense 3/28 - 12
7-55211148-G-C c.391G>C p.G131R Missense 3/28 - 3
7-55211148-GGA-TGT c.391_393delinsTGT p.G131C Missense 3/28 - 1
7-55211149-GA-AC c.392_393delinsAC p.G131D Missense 3/28 - 1
7-55211150-A-G c.393A>G p.G131= Synonymous 3/28 - 1
7-55211151-C-A c.394C>A p.L132M Missense 3/28 - 2
7-55211151-C-T c.394C>T p.L132= Synonymous 3/28 - 4
7-55211151-CTG-ATC c.394_396delinsATC p.L132I Missense 3/28 - 1
7-55211151-CT-GC c.394_395delinsGC p.L132A Missense 3/28 - 1
7-55211151-CTG-TGT c.394_396delinsTGT p.L132C Missense 3/28 - 1
7-55211151-CTG-TTT c.394_396delinsTTT p.L132F Missense 3/28 - 1
7-55211152-T-C c.395T>C p.L132P Missense 3/28 - 1
7-55211153-G-A c.396G>A p.L132= Synonymous 3/28 - 3
7-55211153-G-C c.396G>C p.L132= Synonymous 3/28 - 3
7-55211153-G-T c.396G>T p.L132= Synonymous 3/28 - 3
7-55211154-AA-GC c.397_398delinsGC p.K133A Missense 3/28 - 5
7-55211156-G-C c.399G>C p.K133N Missense 3/28 - 1
7-55211156-G-T c.399G>T p.K133N Missense 3/28 - 1
7-55211155-AG-A c.400del p.E134Sfs*4 Frameshift 3/28 - 1
7-55211157-G-A c.400G>A p.E134K Missense 3/28 - 3
7-55211158-A-C c.401A>C p.E134A Missense 3/28 - 1
7-55211158-A-G c.401A>G p.E134G Missense 3/28 - 3
7-55211159-G-A c.402G>A p.E134= Synonymous 3/28 - 1
7-55211159-G-C c.402G>C p.E134D Missense 3/28 - 1
7-55211159-G-T c.402G>T p.E134D Missense 3/28 - 1
7-55211160-C-A c.403C>A p.L135M Missense 3/28 - 1
7-55211160-C-G c.403C>G p.L135V Missense 3/28 - 1
7-55211160-CTG-TAT c.403_405delinsTAT p.L135Y Missense 3/28 - 3
7-55211160-CT-TA c.403_404delinsTA p.L135* Nonsense 3/28 - 1
7-55211161-T-A c.404T>A p.L135Q Missense 3/28 - 1
7-55211160-C-T c.403C>T p.L135= Synonymous 3/28 - 2
7-55211162-G-A c.405G>A p.L135= Synonymous 3/28 - 3
7-55211162-G-C c.405G>C p.L135= Synonymous 3/28 - 2
7-55211162-G-T c.405G>T p.L135= Synonymous 3/28 - 2
7-55211162-TG-T c.405del p.M137* Frameshift 3/28 - 1
7-55211163-C-A c.406C>A p.P136T Missense 3/28 - 4
7-55211163-C-T c.406C>T p.P136S Missense 3/28 - 3
7-55211164-C-A c.407C>A p.P136H Missense 3/28 - 1
7-55211164-CC-AA c.407_408delinsAA p.P136Q Missense 3/28 - 1
7-55211164-C-T c.407C>T p.P136L Missense 3/28 - 4
7-55211165-C-A c.408C>A p.P136= Synonymous 3/28 - 1
7-55211165-C-T c.408C>T p.P136= Synonymous 3/28 - 2
7-55211166-A-G c.409A>G p.M137V Missense 3/28 - 5
7-55211166-A-T c.409A>T p.M137L Missense 3/28 - 3
7-55211167-T-A c.410T>A p.M137K Missense 3/28 - 1
7-55211167-T-C c.410T>C p.M137T Missense 3/28 - 1
7-55211167-T-G c.410T>G p.M137R Missense 3/28 - 2
7-55211168-G-A c.411G>A p.M137I Missense 3/28 - 4
7-55211168-G-C c.411G>C p.M137I Missense 3/28 - 3
7-55211168-G-GT c.411_412insT p.R138* Nonsense 3/28 - 1
7-55211168-G-T c.411G>T p.M137I Missense 3/28 - 4
7-55211169-AGA-TGG c.412_414delinsTGG p.R138W Missense 3/28 - 2
7-55211169-AG-CA c.412_413delinsCA p.R138Q Missense 3/28 - 1
7-55211169-AG-CC c.412_413delinsCC p.R138P Missense 3/28 - 1
7-55211169-AG-CT c.412_413inv p.R138L Missense 3/28 - 1
7-55211169-AG-GA c.412_413delinsGA p.R138E Missense 3/28 - 1
7-55211169-AG-GT c.412_413delinsGT p.R138V Missense 3/28 - 1
7-55211169-A-T c.412A>T p.R138* Nonsense 3/28 - 2
7-55211170-G-A c.413G>A p.R138K Missense 3/28 - 4
7-55211170-G-T c.413G>T p.R138I Missense 3/28 - 4
7-55211171-A-G c.414A>G p.R138= Synonymous 3/28 - 1
7-55211172-A-G c.415A>G p.N139D Missense 3/28 - 3
7-55211175-T-C c.418T>C p.L140= Synonymous 3/28 - 1
7-55211175-T-G c.418T>G p.L140V Missense 3/28 - 6
7-55211175-TTA-ATG c.418_420delinsATG p.L140M Missense 3/28 - 2
7-55211175-TT-AG c.418_419delinsAG p.L140R Missense 3/28 - 1
7-55211177-A-G c.420A>G p.L140= Synonymous 3/28 - 2
7-55211176-T-C c.419T>C p.L140S Missense 3/28 - 1
7-55211178-C-A c.421C>A p.Q141K Missense 3/28 - 3
7-55211178-CA-AC c.421_422delinsAC p.Q141T Missense 3/28 - 1
7-55211178-C-T c.421C>T p.Q141* Nonsense 3/28 - 8
7-55211179-A-G c.422A>G p.Q141R Missense 3/28 - 2
7-55211180-G-A c.423G>A p.Q141= Synonymous 3/28 - 2
7-55211180-G-T c.423G>T p.Q141H Missense 3/28 - 4
7-55211181-G-A c.424G>A p.E142K Missense 3/28 - 4
7-55211181-G-T c.424G>T p.E142* Nonsense 3/28 - 2
7-55211179-AG-A c.424+1del - Frameshift - 3/27 1
7-55211182-G-A c.424+1G>A - IntronicSNV - 3/27 2
7-55211182-G-T c.424+1G>T - IntronicSNV - 3/27 1
7-55211184-G-A c.424+3G>A - IntronicSNV - 3/27 1
7-55211184-G-T c.424+3G>T - IntronicSNV - 3/27 1
7-55211185-A-G c.424+4A>G - IntronicSNV - 3/27 1
7-55211185-A-T c.424+4A>T - IntronicSNV - 3/27 1
7-55211187-A-G c.424+6A>G - IntronicSNV - 3/27 1
7-55211189-G-A c.424+8G>A - IntronicSNV - 3/27 1
7-55211190-C-A c.424+9C>A - IntronicSNV - 3/27 1
7-55211192-G-A c.424+11G>A - IntronicSNV - 3/27 1
7-55211227-G-A c.424+46G>A - IntronicSNV - 3/27 1
7-55211245-CA-C c.424+64del - IntronicDeletion - 3/27 1
7-55211316-G-A c.424+135G>A - IntronicSNV - 3/27 4
7-55211827-G-A c.424+646G>A - IntronicSNV - 3/27 1
7-55211827-G-T c.424+646G>T - IntronicSNV - 3/27 1
7-55211879-A-G c.424+698A>G - IntronicSNV - 3/27 4
7-55211885-T-C c.424+704T>C - IntronicSNV - 3/27 1
7-55213001-C-T c.425-1298C>T - IntronicSNV - 3/27 1
7-55213017-G-A c.425-1282G>A - IntronicSNV - 3/27 1
7-55213019-T-G c.425-1280T>G - IntronicSNV - 3/27 1
7-55213342-C-A c.425-957C>A - IntronicSNV - 3/27 1
7-55213918-A-C c.425-381A>C - IntronicSNV - 3/27 1
7-55214173-T-C c.425-126T>C - IntronicSNV - 3/27 1
7-55214186-G-T c.425-113G>T - IntronicSNV - 3/27 1
7-55214188-T-C c.425-111T>C - IntronicSNV - 3/27 2
7-55214247-G-A c.425-52G>A - IntronicSNV - 3/27 1
7-55214287-A-T c.425-12A>T - IntronicSNV - 3/27 1
7-55214288-T-C c.425-11T>C - IntronicSNV - 3/27 1
7-55214290-C-A c.425-9C>A - IntronicSNV - 3/27 1
7-55214292-C-A c.425-7C>A - IntronicSNV - 3/27 1
7-55214293-C-A c.425-6C>A - IntronicSNV - 3/27 1
7-55214293-C-G c.425-6C>G - IntronicSNV - 3/27 1
7-55214294-C-A c.425-5C>A - IntronicSNV - 3/27 1
7-55214294-C-G c.425-5C>G - IntronicSNV - 3/27 2
7-55214294-C-T c.425-5C>T - IntronicSNV - 3/27 2
7-55214295-G-A c.425-4G>A - IntronicSNV - 3/27 2
7-55214295-G-T c.425-4G>T - IntronicSNV - 3/27 1
7-55214296-C-A c.425-3C>A - IntronicSNV - 3/27 1
7-55214296-C-T c.425-3C>T - IntronicSNV - 3/27 1
7-55214299-A-G c.425A>G p.E142G Missense 4/28 - 1
7-55214300-A-C c.426A>C p.E142D Missense 4/28 - 3
7-55214300-A-G c.426A>G p.E142E UnclassifiedSNV 4/28 - 1
7-55214300-A-T c.426A>T p.E142D Missense 4/28 - 2
7-55214301-A-G c.427A>G p.I143V Missense 4/28 - 1
7-55214302-T-C c.428T>C p.I143T Missense 4/28 - 1
7-55214303-C-A c.429C>A p.I143I UnclassifiedSNV 4/28 - 1
7-55214303-C-T c.429C>T p.I143= Synonymous 4/28 - 4
7-55214304-C-A c.430C>A p.L144M UnclassifiedSNV 4/28 - 1
7-55214304-C-G c.430C>G p.L144V Missense 4/28 - 2
7-55214304-C-T c.430C>T p.L144= Synonymous 4/28 - 5
7-55214304-CTG-ATC c.430_432delinsATC p.L144I Missense 4/28 - 1
7-55214305-T-A c.431T>A p.L144Q UnclassifiedSNV 4/28 - 1
7-55214306-G-A c.432G>A p.L144L UnclassifiedSNV 4/28 - 2
7-55214307-C-A c.433C>A p.H145N Missense 4/28 - 2
7-55214307-C-T c.433C>T p.H145Y Missense 4/28 - 2
7-55214308-A-C c.434A>C p.H145P Missense 4/28 - 2
7-55214308-A-G c.434A>G p.H145R Missense 4/28 - 9
7-55214310-G-A c.436G>A p.G146S Missense 4/28 - 4
7-55214310-GG-AC c.436_437delinsAC p.G146T Missense 4/28 - 1
7-55214310-GG-CC c.436_437inv p.G146P Missense 4/28 - 1
7-55214310-G-T c.436G>T p.G146C Missense 4/28 - 1
7-55214309-TGGC-T c.437_439del p.G146del InFrameDeletion 4/28 - 1
7-55214311-G-A c.437G>A p.G146D Missense 4/28 - 4
7-55214311-G-C c.437G>C p.G146A Missense 4/28 - 2
7-55214311-GC-AG c.437_438delinsAG p.G146E Missense 4/28 - 1
7-55214311-G-T c.437G>T p.G146V Missense 4/28 - 3
7-55214312-C-A c.438C>A p.G146= Synonymous 4/28 - 2
7-55214312-C-G c.438C>G p.G146= Synonymous 4/28 - 2
7-55214312-C-T c.438C>T p.G146= Synonymous 4/28 - 4
7-55214313-G-A c.439G>A p.A147T Missense 4/28 - 18
7-55214313-G-C c.439G>C p.A147P Missense 4/28 - 3
7-55214313-G-T c.439G>T p.A147S Missense 4/28 - 2
7-55214314-C-A c.440C>A p.A147D Missense 4/28 - 2
7-55214314-C-T c.440C>T p.A147V Missense 4/28 - 3
7-55214315-C-A c.441C>A p.A147= Synonymous 4/28 - 3
7-55214315-C-G c.441C>G p.A147= Synonymous 4/28 - 3
7-55214315-C-T c.441C>T p.A147= Synonymous 4/28 - 4
7-55214316-G-A c.442G>A p.V148M Missense 4/28 - 15
7-55214317-T-G c.443T>G p.V148G Missense 4/28 - 1
7-55214318-G-A c.444G>A p.V148= Synonymous 4/28 - 4
7-55214318-G-C c.444G>C p.V148= Synonymous 4/28 - 2
7-55214318-G-T c.444G>T p.V148= Synonymous 4/28 - 2
7-55214319-C-A c.445C>A p.R149= Synonymous 4/28 - 3
7-55214319-C-G c.445C>G p.R149G Missense 4/28 - 3
7-55214319-CG-AA c.445_446delinsAA p.R149K Missense 4/28 - 1
7-55214319-CG-AC c.445_446delinsAC p.R149T Missense 4/28 - 3
7-55214319-CGG-TGT c.445_447delinsTGT p.R149C Missense 4/28 - 2
7-55214319-CG-TA c.445_446delinsTA p.R149* Nonsense 4/28 - 1
7-55214319-C-T c.445C>T p.R149W Missense 4/28 - 27
7-55214320-G-A c.446G>A p.R149Q Missense 4/28 - 10
7-55214320-G-C c.446G>C p.R149P Missense 4/28 - 2
7-55214320-GG-AT c.446_447delinsAT p.R149H Missense 4/28 - 1
7-55214321-G-A c.447G>A p.R149R UnclassifiedSNV 4/28 - 1
7-55214322-T-C c.448T>C p.F150L Missense 4/28 - 3
7-55214322-T-G c.448T>G p.F150V Missense 4/28 - 1
7-55214321-GT-G c.449del p.F150Sfs*18 Frameshift 4/28 - 1
7-55214324-C-A c.450C>A p.F150L UnclassifiedSNV 4/28 - 1
7-55214324-C-T c.450C>T p.F150= Synonymous 4/28 - 2
7-55214325-A-G c.451A>G p.S151G UnclassifiedSNV 4/28 - 1
7-55214325-AG-GA c.451_452delinsGA p.S151D Missense 4/28 - 3
7-55214325-AG-GC c.451_452delinsGC p.S151A Missense 4/28 - 3
7-55214325-AG-TT c.451_452delinsTT p.S151F Missense 4/28 - 1
7-55214325-A-T c.451A>T p.S151C Missense 4/28 - 2
7-55214326-G-A c.452G>A p.S151N Missense 4/28 - 4
7-55214326-G-T c.452G>T p.S151I Missense 4/28 - 1
7-55214327-C-A c.453C>A p.S151R UnclassifiedSNV 4/28 - 1
7-55214327-C-T c.453C>T p.S151S UnclassifiedSNV 4/28 - 2
7-55214328-AAC-CAA c.454_456delinsCAA p.N152Q Missense 4/28 - 1
7-55214327-C-CA c.455dup p.N152Kfs*20 Frameshift 4/28 - 1
7-55214329-A-G c.455A>G p.N152S Missense 4/28 - 1
7-55214330-C-A c.456C>A p.N152K UnclassifiedSNV 4/28 - 1
7-55214330-C-G c.456C>G p.N152K Missense 4/28 - 1
7-55214331-A-C c.457A>C p.N153H Missense 4/28 - 1
7-55214331-A-G c.457A>G p.N153D Missense 4/28 - 1
7-55214332-A-G c.458A>G p.N153S Missense 4/28 - 2
7-55214333-C-A c.459C>A p.N153K Missense 4/28 - 1
7-55214334-C-A c.460C>A p.P154T UnclassifiedSNV 4/28 - 1
7-55214334-C-T c.460C>T p.P154S Missense 4/28 - 2
7-55214335-C-A c.461C>A p.P154H Missense 4/28 - 5
7-55214335-C-T c.461C>T p.P154L Missense 4/28 - 2
7-55214337-G-A c.463G>A p.A155T Missense 4/28 - 2
7-55214337-GCC-TAA c.463_465delinsTAA p.A155* Nonsense 4/28 - 1
7-55214337-G-T c.463G>T p.A155S Missense 4/28 - 1
7-55214338-C-A c.464C>A p.A155D Missense 4/28 - 2
7-55214338-C-T c.464C>T p.A155V Missense 4/28 - 3
7-55214339-C-A c.465C>A p.A155A UnclassifiedSNV 4/28 - 1
7-55214339-C-T c.465C>T p.A155A UnclassifiedSNV 4/28 - 1
7-55214340-C-A c.466C>A p.L156M Missense 4/28 - 2
7-55214340-C-G c.466C>G p.L156V Missense 4/28 - 1
7-55214340-C-T c.466C>T p.L156= Synonymous 4/28 - 1
7-55214340-CTG-ATC c.466_468delinsATC p.L156I Missense 4/28 - 1
7-55214340-CT-GC c.466_467delinsGC p.L156A Missense 4/28 - 1
7-55214340-CT-TC c.466_467delinsTC p.L156S Missense 4/28 - 1
7-55214341-T-A c.467T>A p.L156Q UnclassifiedSNV 4/28 - 1
7-55214341-T-C c.467T>C p.L156P Missense 4/28 - 2
7-55214343-T-A c.469T>A p.C157S Missense 4/28 - 1
7-55214343-T-C c.469T>C p.C157R Missense 4/28 - 1
7-55214343-TG-AC c.469_470delinsAC p.C157T Missense 4/28 - 1
7-55214344-G-C c.470G>C p.C157S Missense 4/28 - 1
7-55214344-G-A c.470G>A p.C157Y Missense 4/28 - 3
7-55214344-G-T c.470G>T p.C157F Missense 4/28 - 1
7-55214345-C-A c.471C>A p.C157* UnclassifiedSNV 4/28 - 2
7-55214345-C-T c.471C>T p.C157= Synonymous 4/28 - 3
7-55214346-AA-GG c.472_473delinsGG p.N158G Missense 4/28 - 1
7-55214346-A-G c.472A>G p.N158D Missense 4/28 - 2
7-55214345-CA-C c.473del p.N158Tfs*10 Frameshift 4/28 - 1
7-55214347-A-G c.473A>G p.N158S Missense 4/28 - 1
7-55214348-C-A c.474C>A p.N158K Missense 4/28 - 2
7-55214348-C-G c.474C>G p.N158K Missense 4/28 - 1
7-55214348-CG-TC c.474_475delinsTC p.V159L Missense 4/28 - 2
7-55214348-C-T c.474C>T p.N158= Synonymous 4/28 - 82
7-55214349-G-A c.475G>A p.V159M Missense 4/28 - 7
7-55214349-G-C c.475G>C p.V159L Missense 4/28 - 2
7-55214349-GTG-ATC c.475_477delinsATC p.V159I Missense 4/28 - 1
7-55214350-T-A c.476T>A p.V159E Missense 4/28 - 2
7-55214350-T-C c.476T>C p.V159A Missense 4/28 - 1
7-55214351-G-A c.477G>A p.V159V UnclassifiedSNV 4/28 - 1
7-55214351-G-T c.477G>T p.V159= Synonymous 4/28 - 1
7-55214352-G-A c.478G>A p.E160K Missense 4/28 - 7
7-55214352-GAG-TGT c.478_480delinsTGT p.E160C Missense 4/28 - 2
7-55214352-G-C c.478G>C p.E160Q Missense 4/28 - 1
7-55214352-G-T c.478G>T p.E160* Nonsense 4/28 - 2
7-55214353-A-G c.479A>G p.E160G Missense 4/28 - 1
7-55214354-G-A c.480G>A p.E160= Synonymous 4/28 - 4
7-55214354-G-C c.480G>C p.E160D Missense 4/28 - 1
7-55214354-G-T c.480G>T p.E160D Missense 4/28 - 1
7-55214355-A-G c.481A>G p.S161G Missense 4/28 - 1
7-55214355-AG-TA c.481_482delinsTA p.S161Y Missense 4/28 - 1
7-55214356-G-A c.482G>A p.S161N Missense 4/28 - 3
7-55214357-C-A c.483C>A p.S161R UnclassifiedSNV 4/28 - 1
7-55214357-C-T c.483C>T p.S161S UnclassifiedSNV 4/28 - 1
7-55214358-A-T c.484A>T p.I162F Missense 4/28 - 2
7-55214359-T-C c.485T>C p.I162T UnclassifiedSNV 4/28 - 2
7-55214360-C-A c.486C>A p.I162= Synonymous 4/28 - 2
7-55214360-C-G c.486C>G p.I162M Missense 4/28 - 1
7-55214360-C-T c.486C>T p.I162= Synonymous 4/28 - 1
7-55214361-C-A c.487C>A p.Q163K UnclassifiedSNV 4/28 - 1
7-55214361-CAG-GAC c.487_489delinsGAC p.Q163D Missense 4/28 - 1
7-55214361-C-G c.487C>G p.Q163E Missense 4/28 - 1
7-55214361-C-T c.487C>T p.Q163* Nonsense 4/28 - 2
7-55214362-A-G c.488A>G p.Q163R Missense 4/28 - 1
7-55214362-A-T c.488A>T p.Q163L Missense 4/28 - 1
7-55214363-G-A c.489G>A p.Q163= Synonymous 4/28 - 1
7-55214364-T-A c.490T>A p.W164R UnclassifiedSNV 4/28 - 1
7-55214365-G-A c.491G>A p.W164* Nonsense 4/28 - 1
7-55214365-G-T c.491G>T p.W164L Missense 4/28 - 1
7-55214367-C-A c.493C>A p.R165= Synonymous 4/28 - 2
7-55214367-C-G c.493C>G p.R165G Missense 4/28 - 2
7-55214367-CG-AA c.493_494delinsAA p.R165K Missense 4/28 - 1
7-55214367-CG-GA c.493_494delinsGA p.R165E Missense 4/28 - 1
7-55214367-CGG-AGC c.493_495delinsAGC p.R165S Missense 4/28 - 3
7-55214367-CGG-TGT c.493_495delinsTGT p.R165C Missense 4/28 - 3
7-55214367-CG-TA c.493_494delinsTA p.R165* Nonsense 4/28 - 1
7-55214367-C-T c.493C>T p.R165W Missense 4/28 - 16
7-55214369-G-T c.495G>T p.R165= Synonymous 4/28 - 2
7-55214368-G-A c.494G>A p.R165Q Missense 4/28 - 15
7-55214368-GG-AT c.494_495delinsAT p.R165H Missense 4/28 - 2
7-55214368-G-T c.494G>T p.R165L Missense 4/28 - 3
7-55214369-G-A c.495G>A p.R165R UnclassifiedSNV 4/28 - 2
7-55214369-G-C c.495G>C p.R165= Synonymous 4/28 - 2
7-55214370-G-A c.496G>A p.D166N Missense 4/28 - 5
7-55214370-GGAC-G c.496_498del p.D166del InFrameDeletion 4/28 - 2
7-55214372-C-A c.498C>A p.D166E Missense 4/28 - 1
7-55214372-C-T c.498C>T p.D166= Synonymous 4/28 - 1
7-55214373-A-C c.499A>C p.I167L Missense 4/28 - 2
7-55214373-A-T c.499A>T p.I167L Missense 4/28 - 2
7-55214373-AT-GC c.499_500delinsGC p.I167A Missense 4/28 - 1
7-55214374-T-C c.500T>C p.I167T Missense 4/28 - 5
7-55214375-A-G c.501A>G p.I167M UnclassifiedSNV 4/28 - 1
7-55214375-A-T c.501A>T p.I167= Synonymous 4/28 - 1
7-55214376-G-A c.502G>A p.V168I Missense 4/28 - 1
7-55214376-G-C c.502G>C p.V168L Missense 4/28 - 2
7-55214376-G-T c.502G>T p.V168F Missense 4/28 - 1
7-55214376-GTC-ATG c.502_504delinsATG p.V168M Missense 4/28 - 1
7-55214377-T-A c.503T>A p.V168D Missense 4/28 - 2
7-55214378-C-A c.504C>A p.V168V UnclassifiedSNV 4/28 - 1
7-55214378-C-CT c.504_505insT p.S169* Nonsense 4/28 - 1
7-55214379-A-C c.505A>C p.S169R Missense 4/28 - 1
7-55214379-AG-CC c.505_506delinsCC p.S169P Missense 4/28 - 1
7-55214379-AGC-GAG c.505_507delinsGAG p.S169E Missense 4/28 - 1
7-55214379-AG-GC c.505_506delinsGC p.S169A Missense 4/28 - 1
7-55214379-AG-TT c.505_506delinsTT p.S169F Missense 4/28 - 2
7-55214379-A-T c.505A>T p.S169C Missense 4/28 - 1
7-55214379-CA-C c.505del p.S169Afs*42 Frameshift 4/28 - 1
7-55214380-G-A c.506G>A p.S169N Missense 4/28 - 3
7-55214380-G-T c.506G>T p.S169I Missense 4/28 - 1
7-55214381-C-A c.507C>A p.S169R UnclassifiedSNV 4/28 - 1
7-55214381-C-T c.507C>T p.S169= Synonymous 4/28 - 2
7-55214382-AG-TA c.508_509delinsTA p.S170Y Missense 4/28 - 3
7-55214382-A-T c.508A>T p.S170C Missense 4/28 - 3
7-55214383-G-A c.509G>A p.S170N Missense 4/28 - 3
7-55214383-G-T c.509G>T p.S170I Missense 4/28 - 4
7-55214385-G-A c.511G>A p.D171N Missense 4/28 - 4
7-55214385-GA-AG c.511_512delinsAG p.D171S Missense 4/28 - 1
7-55214385-G-C c.511G>C p.D171H Missense 4/28 - 2
7-55214385-G-T c.511G>T p.D171Y Missense 4/28 - 1
7-55214386-A-G c.512A>G p.D171G Missense 4/28 - 2
7-55214387-C-A c.513C>A p.D171E Missense 4/28 - 2
7-55214387-C-T c.513C>T p.D171= Synonymous 4/28 - 2
7-55214388-T-A c.514T>A p.F172I Missense 4/28 - 1
7-55214388-T-C c.514T>C p.F172L Missense 4/28 - 3
7-55214390-T-A c.516T>A p.F172L Missense 4/28 - 2
7-55214390-T-G c.516T>G p.F172L Missense 4/28 - 2
7-55214389-T-C c.515T>C p.F172S Missense 4/28 - 1
7-55214390-T-C c.516T>C p.F172F UnclassifiedSNV 4/28 - 1
7-55214391-C-A c.517C>A p.L173I Missense 4/28 - 1
7-55214391-C-G c.517C>G p.L173V Missense 4/28 - 1
7-55214391-C-T c.517C>T p.L173F Missense 4/28 - 5
7-55214393-C-A c.519C>A p.L173= Synonymous 4/28 - 3
7-55214393-C-G c.519C>G p.L173= Synonymous 4/28 - 3
7-55214393-C-T c.519C>T p.L173= Synonymous 4/28 - 2
7-55214394-A-G c.520A>G p.S174G Missense 4/28 - 3
7-55214394-AGC-TGA c.520_522delinsTGA p.S174* Nonsense 4/28 - 1
7-55214394-AG-GC c.520_521delinsGC p.S174A Missense 4/28 - 1
7-55214394-AG-GT c.520_521delinsGT p.S174V Missense 4/28 - 1
7-55214394-A-T c.520A>T p.S174C Missense 4/28 - 1
7-55214395-G-A c.521G>A p.S174N Missense 4/28 - 1
7-55214395-G-T c.521G>T p.S174I Missense 4/28 - 1
7-55214394-A-C c.520A>C p.S174R Missense 4/28 - 2
7-55214396-C-A c.522C>A p.S174R Missense 4/28 - 3
7-55214396-C-G c.522C>G p.S174R Missense 4/28 - 3
7-55214396-C-T c.522C>T p.S174= Synonymous 4/28 - 1
7-55214397-AAC-CAA c.523_525delinsCAA p.N175Q Missense 4/28 - 2
7-55214397-A-G c.523A>G p.N175D Missense 4/28 - 1
7-55214398-A-G c.524A>G p.N175S Missense 4/28 - 4
7-55214398-A-T c.524A>T p.N175I Missense 4/28 - 1
7-55214399-C-A c.525C>A p.N175K Missense 4/28 - 3
7-55214399-C-G c.525C>G p.N175K Missense 4/28 - 1
7-55214399-C-T c.525C>T p.N175= Synonymous 4/28 - 1
7-55214400-A-G c.526A>G p.M176V Missense 4/28 - 2
7-55214401-T-C c.527T>C p.M176T Missense 4/28 - 1
7-55214402-G-A c.528G>A p.M176I Missense 4/28 - 1
7-55214402-G-C c.528G>C p.M176I Missense 4/28 - 2
7-55214402-G-T c.528G>T p.M176I Missense 4/28 - 2
7-55214403-GT-G c.529del p.S177Rfs*34 Frameshift 4/28 - 1
7-55214403-T-C c.529T>C p.S177P Missense 4/28 - 2
7-55214403-TC-GA c.529_530inv p.S177E Missense 4/28 - 3
7-55214403-T-G c.529T>G p.S177A Missense 4/28 - 2
7-55214404-C-A c.530C>A p.S177* Nonsense 4/28 - 2
7-55214404-C-G c.530C>G p.S177W Missense 4/28 - 2
7-55214404-CG-TT c.530_531delinsTT p.S177F Missense 4/28 - 1
7-55214404-C-T c.530C>T p.S177L Missense 4/28 - 7
7-55214405-G-A c.531G>A p.S177= Synonymous 4/28 - 6
7-55214405-G-C c.531G>C p.S177= Synonymous 4/28 - 4
7-55214405-G-T c.531G>T p.S177= Synonymous 4/28 - 1
7-55214406-A-C c.532A>C p.M178L Missense 4/28 - 1
7-55214406-A-T c.532A>T p.M178L Missense 4/28 - 1
7-55214407-T-A c.533T>A p.M178K UnclassifiedSNV 4/28 - 1
7-55214407-T-C c.533T>C p.M178T Missense 4/28 - 1
7-55214408-G-A c.534G>A p.M178I Missense 4/28 - 8
7-55214408-G-C c.534G>C p.M178I Missense 4/28 - 5
7-55214408-G-T c.534G>T p.M178I Missense 4/28 - 5
7-55214409-G-A c.535G>A p.D179N Missense 4/28 - 2
7-55214410-A-G c.536A>G p.D179G Missense 4/28 - 2
7-55214411-C-A c.537C>A p.D179E UnclassifiedSNV 4/28 - 1
7-55214411-C-T c.537C>T p.D179= Synonymous 4/28 - 2
7-55214413-T-C c.539T>C p.F180S UnclassifiedSNV 4/28 - 2
7-55214414-C-A c.540C>A p.F180L Missense 4/28 - 1
7-55214414-C-T c.540C>T p.F180= Synonymous 4/28 - 6
7-55214415-C-A c.541C>A p.Q181K Missense 4/28 - 4
7-55214415-CA-AC c.541_542delinsAC p.Q181T Missense 4/28 - 1
7-55214415-C-G c.541C>G p.Q181E Missense 4/28 - 1
7-55214416-A-G c.542A>G p.Q181R UnclassifiedSNV 4/28 - 2
7-55214417-G-C c.543G>C p.Q181H Missense 4/28 - 1
7-55214417-G-T c.543G>T p.Q181H Missense 4/28 - 2
7-55214418-AAC-CAA c.544_546delinsCAA p.N182Q Missense 4/28 - 3
7-55214419-A-G c.545A>G p.N182S UnclassifiedSNV 4/28 - 3
7-55214420-C-A c.546C>A p.N182K UnclassifiedSNV 4/28 - 1
7-55214421-C-A c.547C>A p.H183N UnclassifiedSNV 4/28 - 2
7-55214421-C-G c.547C>G p.H183D Missense 4/28 - 5
7-55214421-C-T c.547C>T p.H183Y Missense 4/28 - 3
7-55214422-A-G c.548A>G p.H183R Missense 4/28 - 1
7-55214423-C-A c.549C>A p.H183Q Missense 4/28 - 1
7-55214423-C-T c.549C>T p.H183= Synonymous 4/28 - 1
7-55214424-C-A c.550C>A p.L184M Missense 4/28 - 2
7-55214424-C-G c.550C>G p.L184V Missense 4/28 - 2
7-55214424-C-T c.550C>T p.L184L UnclassifiedSNV 4/28 - 1
7-55214425-T-C c.551T>C p.L184P UnclassifiedSNV 4/28 - 2
7-55214427-G-A c.553G>A p.G185S Missense 4/28 - 1
7-55214427-G-C c.553G>C p.G185R Missense 4/28 - 2
7-55214427-GG-AC c.553_554delinsAC p.G185T Missense 4/28 - 1
7-55214428-G-A c.554G>A p.G185D Missense 4/28 - 2
7-55214428-G-C c.554G>C p.G185A Missense 4/28 - 1
7-55214429-C-A c.555C>A p.G185= Synonymous 4/28 - 2
7-55214429-C-G c.555C>G p.G185= Synonymous 4/28 - 1
7-55214429-C-T c.555C>T p.G185= Synonymous 4/28 - 2
7-55214430-A-C c.556A>C p.S186R Missense 4/28 - 2
7-55214430-A-G c.556A>G p.S186G Missense 4/28 - 1
7-55214430-AG-GC c.556_557delinsGC p.S186A Missense 4/28 - 1
7-55214430-AG-TA c.556_557delinsTA p.S186Y Missense 4/28 - 1
7-55214431-G-A c.557G>A p.S186N Missense 4/28 - 2
7-55214432-C-A c.558C>A p.S186R UnclassifiedSNV 4/28 - 2
7-55214432-C-G c.558C>G p.S186R Missense 4/28 - 1
7-55214432-C-T c.558C>T p.S186= Synonymous 4/28 - 1
7-55214433-T-A c.559T>A p.C187S Missense 4/28 - 2
7-55214433-T-C c.559T>C p.C187R Missense 4/28 - 4
7-55218987-G-C c.560G>C p.C187S Missense 5/28 - 1
7-55214434-G-A c.559+1G>A - IntronicSNV - 4/27 2
7-55214434-G-T c.559+1G>T - IntronicSNV - 4/27 1
7-55214436-A-G c.559+3A>G - IntronicSNV - 4/27 1
7-55214437-A-T c.559+4A>T - IntronicSNV - 4/27 1
7-55214439-T-A c.559+6T>A - IntronicSNV - 4/27 1
7-55214441-T-C c.559+8T>C - IntronicSNV - 4/27 1
7-55214442-C-A c.559+9C>A - IntronicSNV - 4/27 1
7-55214442-C-T c.559+9C>T - IntronicSNV - 4/27 1
7-55214443-G-A c.559+10G>A - IntronicSNV - 4/27 20
7-55214444-C-A c.559+11C>A - IntronicSNV - 4/27 1
7-55214474-T-G c.559+41T>G - IntronicSNV - 4/27 1
7-55214515-ATGTTTAGTAAG-A c.559+84_559+94del - IntronicDeletion - 4/27 1
7-55214531-A-G c.559+98A>G - IntronicSNV - 4/27 1
7-55214535-A-T c.559+102A>T - IntronicSNV - 4/27 1
7-55214539-G-A c.559+106G>A - IntronicSNV - 4/27 1
7-55214543-C-A c.559+110C>A - IntronicSNV - 4/27 1
7-55214647-G-T c.559+214G>T - IntronicSNV - 4/27 7
7-55214781-C-T c.559+348C>T - IntronicSNV - 4/27 1
7-55215018-A-C c.559+585A>C - IntronicSNV - 4/27 14
7-55215431-G-C c.559+998G>C - IntronicSNV - 4/27 1
7-55215602-A-T c.559+1169A>T - IntronicSNV - 4/27 1
7-55215619-G-A c.559+1186G>A - IntronicSNV - 4/27 1
7-55215661-C-T c.559+1228C>T - IntronicSNV - 4/27 3
7-55215909-G-C c.559+1476G>C - IntronicSNV - 4/27 2
7-55216386-T-C c.559+1953T>C - IntronicSNV - 4/27 1
7-55217091-C-T c.560-1896C>T - IntronicSNV - 4/27 1
7-55217298-T-C c.560-1689T>C - IntronicSNV - 4/27 1
7-55217400-A-G c.560-1587A>G - IntronicSNV - 4/27 1
7-55217821-G-C c.560-1166G>C - IntronicSNV - 4/27 1
7-55217888-A-G c.560-1099A>G - IntronicSNV - 4/27 1
7-55217956-C-T c.560-1031C>T - IntronicSNV - 4/27 1
7-55218356-G-A c.560-631G>A - IntronicSNV - 4/27 1
7-55218450-C-T c.560-537C>T - IntronicSNV - 4/27 2
7-55218749-G-A c.560-238G>A - IntronicSNV - 4/27 1
7-55218803-T-A c.560-184T>A - IntronicSNV - 4/27 1
7-55218803-T-C c.560-184T>C - IntronicSNV - 4/27 1
7-55218903-T-C c.560-84T>C - IntronicSNV - 4/27 17
7-55218921-G-A c.560-66G>A - IntronicSNV - 4/27 1
7-55218921-G-C c.560-66G>C - IntronicSNV - 4/27 1
7-55218931-G-A c.560-56G>A - IntronicSNV - 4/27 1
7-55218984-CAGGCCAAA-C c.560_567del p.C187Lfs*2 SpliceAcceptorDeletion 5/28 - 1
7-55218987-G-A c.560G>A p.C187Y Missense 5/28 - 2
7-55218987-G-T c.560G>T p.C187F Missense 5/28 - 1
7-55218988-C-A c.561C>A p.C187* Nonsense 5/28 - 1
7-55218988-C-T c.561C>T p.C187= Synonymous 5/28 - 9
7-55218989-C-A c.562C>A p.Q188K Missense 5/28 - 1
7-55218990-A-G c.563A>G p.Q188R Missense 5/28 - 1
7-55218990-A-T c.563A>T p.Q188L Missense 5/28 - 1
7-55218991-A-C c.564A>C p.Q188H Missense 5/28 - 1
7-55218991-A-T c.564A>T p.Q188H Missense 5/28 - 1
7-55218992-AA-GC c.565_566delinsGC p.K189A Missense 5/28 - 1
7-55218989-CA-C c.566del p.K189Sfs*22 Frameshift 5/28 - 1
7-55218993-A-C c.566A>C p.K189T Missense 5/28 - 2
7-55218993-A-G c.566A>G p.K189R Missense 5/28 - 4
7-55218994-G-C c.567G>C p.K189N Missense 5/28 - 2
7-55218994-G-T c.567G>T p.K189N Missense 5/28 - 2
7-55218996-G-T c.569G>T p.C190F Missense 5/28 - 1
7-55218998-G-A c.571G>A p.D191N Missense 5/28 - 8
7-55218998-G-C c.571G>C p.D191H Missense 5/28 - 1
7-55218998-G-T c.571G>T p.D191Y Missense 5/28 - 1
7-55219001-C-A c.574C>A p.P192T Missense 5/28 - 4
7-55219001-C-G c.574C>G p.P192A Missense 5/28 - 1
7-55219001-C-T c.574C>T p.P192S Missense 5/28 - 7
7-55219002-C-A c.575C>A p.P192Q Missense 5/28 - 2
7-55219002-C-T c.575C>T p.P192L Missense 5/28 - 1
7-55219003-A-C c.576A>C p.P192= Synonymous 5/28 - 1
7-55219003-A-G c.576A>G p.P192= Synonymous 5/28 - 1
7-55219003-A-T c.576A>T p.P192= Synonymous 5/28 - 2
7-55219004-A-G c.577A>G p.S193G Missense 5/28 - 1
7-55219004-AG-CT c.577_578inv p.S193L Missense 5/28 - 2
7-55219004-A-T c.577A>T p.S193C Missense 5/28 - 2
7-55219005-G-A c.578G>A p.S193N Missense 5/28 - 1
7-55219004-A-C c.577A>C p.S193R Missense 5/28 - 3
7-55219006-C-A c.579C>A p.S193R Missense 5/28 - 4
7-55219006-C-G c.579C>G p.S193R Missense 5/28 - 3
7-55219006-C-T c.579C>T p.S193= Synonymous 5/28 - 1
7-55219007-T-A c.580T>A p.C194S Missense 5/28 - 2
7-55219007-T-C c.580T>C p.C194R Missense 5/28 - 1
7-55219007-TG-AC c.580_581delinsAC p.C194T Missense 5/28 - 2
7-55219007-TG-GC c.580_581delinsGC p.C194A Missense 5/28 - 2
7-55219008-G-C c.581G>C p.C194S Missense 5/28 - 2
7-55219008-G-A c.581G>A p.C194Y Missense 5/28 - 1
7-55219008-G-T c.581G>T p.C194F Missense 5/28 - 2
7-55219010-C-G c.583C>G p.P195A Missense 5/28 - 1
7-55219010-C-T c.583C>T p.P195S Missense 5/28 - 3
7-55219011-C-A c.584C>A p.P195H Missense 5/28 - 1
7-55219011-CC-AA c.584_585delinsAA p.P195Q Missense 5/28 - 1
7-55219011-C-T c.584C>T p.P195L Missense 5/28 - 3
7-55219012-C-A c.585C>A p.P195= Synonymous 5/28 - 1
7-55219012-C-T c.585C>T p.P195= Synonymous 5/28 - 1
7-55219013-A-G c.586A>G p.N196D Missense 5/28 - 2
7-55219013-CAATGGGA-C c.586_592del p.N196Afs*13 Frameshift 5/28 - 1
7-55219014-A-G c.587A>G p.N196S Missense 5/28 - 2
7-55219016-GGG-TGT c.589_591delinsTGT p.G197C Missense 5/28 - 1
7-55219016-G-T c.589G>T p.G197W Missense 5/28 - 3
7-55219017-G-A c.590G>A p.G197E Missense 5/28 - 2
7-55219017-G-C c.590G>C p.G197A Missense 5/28 - 1
7-55219017-GG-AC c.590_591delinsAC p.G197D Missense 5/28 - 1
7-55219017-G-T c.590G>T p.G197V Missense 5/28 - 1
7-55219018-G-A c.591G>A p.G197= Synonymous 5/28 - 3
7-55219018-G-C c.591G>C p.G197= Synonymous 5/28 - 1
7-55219018-G-T c.591G>T p.G197= Synonymous 5/28 - 1
7-55219019-AG-CC c.592_593delinsCC p.S198P Missense 5/28 - 1
7-55219019-AGC-GAG c.592_594delinsGAG p.S198E Missense 5/28 - 1
7-55219019-AG-GC c.592_593delinsGC p.S198A Missense 5/28 - 1
7-55219020-G-A c.593G>A p.S198N Missense 5/28 - 7
7-55219019-A-C c.592A>C p.S198R Missense 5/28 - 5
7-55219021-C-A c.594C>A p.S198R Missense 5/28 - 6
7-55219021-C-G c.594C>G p.S198R Missense 5/28 - 5
7-55219021-C-T c.594C>T p.S198= Synonymous 5/28 - 12
7-55219022-T-A c.595T>A p.C199S Missense 5/28 - 3
7-55219022-T-C c.595T>C p.C199R Missense 5/28 - 2
7-55219022-TG-GT c.595_596delinsGT p.C199V Missense 5/28 - 1
7-55219023-G-C c.596G>C p.C199S Missense 5/28 - 5
7-55219023-G-A c.596G>A p.C199Y Missense 5/28 - 2
7-55219023-G-T c.596G>T p.C199F Missense 5/28 - 5
7-55219024-C-T c.597C>T p.C199= Synonymous 5/28 - 1
7-55219026-G-A c.599G>A p.W200* Nonsense 5/28 - 3
7-55219026-G-T c.599G>T p.W200L Missense 5/28 - 2
7-55219027-G-A c.600G>A p.W200* Nonsense 5/28 - 1
7-55219027-G-C c.600G>C p.W200C Missense 5/28 - 2
7-55219027-G-T c.600G>T p.W200C Missense 5/28 - 3
7-55219028-G-A c.601G>A p.G201S Missense 5/28 - 1
7-55219028-G-C c.601G>C p.G201R Missense 5/28 - 1
7-55219028-G-T c.601G>T p.G201C Missense 5/28 - 1
7-55219029-G-A c.602G>A p.G201D Missense 5/28 - 3
7-55219029-G-C c.602G>C p.G201A Missense 5/28 - 4
7-55219029-G-T c.602G>T p.G201V Missense 5/28 - 1
7-55219029-GT-AG c.602_603delinsAG p.G201E Missense 5/28 - 1
7-55219031-G-A c.604G>A p.A202T Missense 5/28 - 3
7-55219032-C-G c.605C>G p.A202G Missense 5/28 - 3
7-55219032-C-T c.605C>T p.A202V Missense 5/28 - 2
7-55219033-A-C c.606A>C p.A202= Synonymous 5/28 - 1
7-55219033-A-G c.606A>G p.A202= Synonymous 5/28 - 2
7-55219033-A-T c.606A>T p.A202= Synonymous 5/28 - 1
7-55219034-G-A c.607G>A p.G203R Missense 5/28 - 9
7-55219034-G-C c.607G>C p.G203R Missense 5/28 - 8
7-55219034-GG-AC c.607_608delinsAC p.G203T Missense 5/28 - 1
7-55219034-GGA-TGT c.607_609delinsTGT p.G203C Missense 5/28 - 1
7-55219035-G-A c.608G>A p.G203E Missense 5/28 - 3
7-55219035-GA-AC c.608_609delinsAC p.G203D Missense 5/28 - 1
7-55219035-G-C c.608G>C p.G203A Missense 5/28 - 1
7-55219035-G-T c.608G>T p.G203V Missense 5/28 - 1
7-55219037-G-A c.610G>A p.E204K Missense 5/28 - 8
7-55219037-G-C c.610G>C p.E204Q Missense 5/28 - 1
7-55219037-G-T c.610G>T p.E204* Nonsense 5/28 - 2
7-55219038-AG-A c.613del p.E205Rfs*6 Frameshift 5/28 - 1
7-55219040-G-A c.613G>A p.E205K Missense 5/28 - 3
7-55219041-A-C c.614A>C p.E205A Missense 5/28 - 1
7-55219042-G-A c.615G>A p.E205= Synonymous 5/28 - 1
7-55219043-A-C c.616A>C p.N206H Missense 5/28 - 1
7-55219044-A-C c.617A>C p.N206T Missense 5/28 - 1
7-55219045-C-A c.618C>A p.N206K Missense 5/28 - 3
7-55219045-C-G c.618C>G p.N206K Missense 5/28 - 1
7-55219045-C-T c.618C>T p.N206= Synonymous 5/28 - 1
7-55219047-G-A c.620G>A p.C207Y Missense 5/28 - 2
7-55219047-G-GGGAA c.620_621insGGAA p.C207Wfs*25 Frameshift 5/28 - 1
7-55219048-C-A c.621C>A p.C207* Nonsense 5/28 - 1
7-55219049-C-G c.622C>G p.Q208E Missense 5/28 - 3
7-55219049-C-T c.622C>T p.Q208* Nonsense 5/28 - 6
7-55219051-G-A c.624G>A p.Q208= Synonymous 5/28 - 1
7-55219051-G-T c.624G>T p.Q208H Missense 5/28 - 1
7-55219052-AAA-GAC c.625_627delinsGAC p.K209D Missense 5/28 - 1
7-55219052-A-C c.625A>C p.K209Q Missense 5/28 - 1
7-55219052-A-G c.625A>G p.K209E Missense 5/28 - 1
7-55219053-A-C c.626A>C p.K209T Missense 5/28 - 2
7-55219053-A-T c.626A>T p.K209I Missense 5/28 - 2
7-55219054-A-C c.627A>C p.K209N Missense 5/28 - 5
7-55219054-A-G c.627A>G p.K209= Synonymous 5/28 - 1
7-55219054-A-T c.627A>T p.K209N Missense 5/28 - 3
7-55219055-C-A c.628C>A p.L210M Missense 5/28 - 2
7-55219055-C-T c.628C>T p.L210= Synonymous 5/28 - 3
7-55219056-G-A c.628+1G>A - IntronicSNV - 5/27 3
7-55219056-G-T c.628+1G>T - IntronicSNV - 5/27 2
7-55219067-A-G c.628+12A>G - IntronicSNV - 5/27 1
7-55219159-C-G c.628+104C>G - IntronicSNV - 5/27 14
7-55219159-C-T c.628+104C>T - IntronicSNV - 5/27 20
7-55219290-T-A c.628+235T>A - IntronicSNV - 5/27 4
7-55219290-T-C c.628+235T>C - IntronicSNV - 5/27 5
7-55219292-GGC-G c.628+241_628+242del - IntronicDeletion - 5/27 1
7-55219307-C-G c.628+252C>G - IntronicSNV - 5/27 5
7-55219419-T-A c.628+364T>A - IntronicSNV - 5/27 1
7-55219419-T-G c.628+364T>G - IntronicSNV - 5/27 1
7-55219435-C-T c.628+380C>T - IntronicSNV - 5/27 1
7-55219483-C-T c.628+428C>T - IntronicSNV - 5/27 1
7-55219533-T-C c.628+478T>C - IntronicSNV - 5/27 1
7-55219611-A-G c.628+556A>G - IntronicSNV - 5/27 7
7-55220177-A-G c.629-62A>G - IntronicSNV - 5/27 24
7-55220239-T-A c.629T>A p.L210Q Missense 6/28 - 2
7-55220240-G-A c.630G>A p.L210= Synonymous 6/28 - 2
7-55220240-G-T c.630G>T p.L210= Synonymous 6/28 - 1
7-55220242-C-A c.632C>A p.T211N Missense 6/28 - 1
7-55220242-CC-TG c.632_633delinsTG p.T211M Missense 6/28 - 1
7-55220242-C-G c.632C>G p.T211S Missense 6/28 - 2
7-55220242-C-T c.632C>T p.T211I Missense 6/28 - 1
7-55220241-AC-A c.633del p.I213Sfs*67 Frameshift 6/28 - 1
7-55220243-C-A c.633C>A p.T211= Synonymous 6/28 - 1
7-55220243-C-G c.633C>G p.T211= Synonymous 6/28 - 1
7-55220243-C-T c.633C>T p.T211= Synonymous 6/28 - 1
7-55220244-A-C c.634A>C p.K212Q Missense 6/28 - 1
7-55220245-A-C c.635A>C p.K212T Missense 6/28 - 2
7-55220246-A-C c.636A>C p.K212N Missense 6/28 - 2
7-55220246-A-G c.636A>G p.K212= Synonymous 6/28 - 1
7-55220246-A-T c.636A>T p.K212N Missense 6/28 - 3
7-55220247-A-G c.637A>G p.I213V Missense 6/28 - 2
7-55220248-AT-A c.638del p.I213Tfs*67 Frameshift 6/28 - 1
7-55220249-C-A c.639C>A p.I213= Synonymous 6/28 - 2
7-55220249-C-T c.639C>T p.I213= Synonymous 6/28 - 3
7-55220250-A-C c.640A>C p.I214L Missense 6/28 - 2
7-55220250-A-T c.640A>T p.I214F Missense 6/28 - 1
7-55220250-AT-GC c.640_641delinsGC p.I214A Missense 6/28 - 1
7-55220251-T-C c.641T>C p.I214T Missense 6/28 - 1
7-55220253-T-A c.643T>A p.C215S Missense 6/28 - 4
7-55220253-T-C c.643T>C p.C215R Missense 6/28 - 1
7-55220253-T-G c.643T>G p.C215G Missense 6/28 - 1
7-55220253-TG-GC c.643_644delinsGC p.C215A Missense 6/28 - 3
7-55220254-G-C c.644G>C p.C215S Missense 6/28 - 4
7-55220254-G-A c.644G>A p.C215Y Missense 6/28 - 1
7-55220254-G-GGGAA c.644_645insGGAA p.C215Wfs*17 Frameshift 6/28 - 1
7-55220254-G-T c.644G>T p.C215F Missense 6/28 - 1
7-55220256-G-A c.646G>A p.A216T Missense 6/28 - 5
7-55220257-C-G c.647C>G p.A216G Missense 6/28 - 1
7-55220257-C-T c.647C>T p.A216V Missense 6/28 - 2
7-55220259-C-A c.649C>A p.Q217K Missense 6/28 - 1
7-55220259-C-T c.649C>T p.Q217* Nonsense 6/28 - 1
7-55220260-A-C c.650A>C p.Q217P Missense 6/28 - 2
7-55220260-A-T c.650A>T p.Q217L Missense 6/28 - 1
7-55220261-G-C c.651G>C p.Q217H Missense 6/28 - 2
7-55220261-G-T c.651G>T p.Q217H Missense 6/28 - 2
7-55220262-C-T c.652C>T p.Q218* Nonsense 6/28 - 1
7-55220263-A-T c.653A>T p.Q218L Missense 6/28 - 1
7-55220263-CAGT-C c.653_655del p.Q218_C219delinsR MultiAAMissense 6/28 - 1
7-55220264-G-T c.654G>T p.Q218H Missense 6/28 - 3
7-55220265-T-C c.655T>C p.C219R Missense 6/28 - 1
7-55220265-T-G c.655T>G p.C219G Missense 6/28 - 3
7-55220266-G-A c.656G>A p.C219Y Missense 6/28 - 2
7-55220266-G-T c.656G>T p.C219F Missense 6/28 - 1
7-55220267-C-A c.657C>A p.C219* Nonsense 6/28 - 2
7-55220268-T-C c.658T>C p.S220P Missense 6/28 - 8
7-55220268-TCC-GAG c.658_660delinsGAG p.S220E Missense 6/28 - 3
7-55220269-C-A c.659C>A p.S220Y Missense 6/28 - 1
7-55220269-CC-AT c.659_660delinsAT p.S220Y Missense 6/28 - 1
7-55220269-C-G c.659C>G p.S220C Missense 6/28 - 1
7-55220269-C-T c.659C>T p.S220F Missense 6/28 - 3
7-55220270-C-T c.660C>T p.S220= Synonymous 6/28 - 2
7-55220271-G-A c.661G>A p.G221R Missense 6/28 - 7
7-55220271-G-C c.661G>C p.G221R Missense 6/28 - 3
7-55220271-G-T c.661G>T p.G221W Missense 6/28 - 2
7-55220272-G-T c.662G>T p.G221V Missense 6/28 - 1
7-55220270-CG-C c.663del p.R222Afs*58 Frameshift 6/28 - 1
7-55220273-G-T c.663G>T p.G221= Synonymous 6/28 - 1
7-55220274-C-A c.664C>A p.R222S Missense 6/28 - 1
7-55220274-CG-AA c.664_665delinsAA p.R222N Missense 6/28 - 2
7-55220274-CG-AT c.664_665delinsAT p.R222I Missense 6/28 - 1
7-55220274-CGC-TGA c.664_666delinsTGA p.R222* Nonsense 6/28 - 1
7-55220274-CG-GC c.664_665delinsGC p.R222A Missense 6/28 - 1
7-55220274-C-T c.664C>T p.R222C Missense 6/28 - 59
7-55220275-G-A c.665G>A p.R222H Missense 6/28 - 10
7-55220275-G-T c.665G>T p.R222L Missense 6/28 - 7
7-55220276-C-A c.666C>A p.R222= Synonymous 6/28 - 3
7-55220276-C-G c.666C>G p.R222= Synonymous 6/28 - 2
7-55220276-C-T c.666C>T p.R222= Synonymous 6/28 - 2
7-55220276-GC-G c.666del p.C223Afs*57 Frameshift 6/28 - 1
7-55220277-T-C c.667T>C p.C223R Missense 6/28 - 2
7-55220277-TGC-GAG c.667_669delinsGAG p.C223E Missense 6/28 - 2
7-55220278-G-A c.668G>A p.C223Y Missense 6/28 - 8
7-55220279-C-T c.669C>T p.C223= Synonymous 6/28 - 1
7-55220280-C-A c.670C>A p.R224S Missense 6/28 - 2
7-55220280-CG-AT c.670_671delinsAT p.R224I Missense 6/28 - 1
7-55220280-CGT-TGG c.670_672delinsTGG p.R224W Missense 6/28 - 2
7-55220280-C-T c.670C>T p.R224C Missense 6/28 - 9
7-55220281-G-A c.671G>A p.R224H Missense 6/28 - 15
7-55220281-G-C c.671G>C p.R224P Missense 6/28 - 1
7-55220281-GT-AA c.671_672delinsAA p.R224Q Missense 6/28 - 3
7-55220280-CGT-C c.672_673del p.G225Qfs*5 Frameshift 6/28 - 2
7-55220283-G-A c.673G>A p.G225S Missense 6/28 - 1
7-55220283-G-C c.673G>C p.G225R Missense 6/28 - 2
7-55220283-G-T c.673G>T p.G225C Missense 6/28 - 3
7-55220282-TG-T c.674del p.G225Afs*55 Frameshift 6/28 - 2
7-55220284-G-A c.674G>A p.G225D Missense 6/28 - 4
7-55220284-G-C c.674G>C p.G225A Missense 6/28 - 1
7-55220284-G-T c.674G>T p.G225V Missense 6/28 - 2
7-55220285-C-A c.675C>A p.G225= Synonymous 6/28 - 1
7-55220286-A-G c.676A>G p.K226E Missense 6/28 - 1
7-55220287-A-T c.677A>T p.K226M Missense 6/28 - 1
7-55220288-G-C c.678G>C p.K226N Missense 6/28 - 1
7-55220288-G-T c.678G>T p.K226N Missense 6/28 - 1
7-55220289-T-C c.679T>C p.S227P Missense 6/28 - 1
7-55220289-T-G c.679T>G p.S227A Missense 6/28 - 1
7-55220290-C-A c.680C>A p.S227Y Missense 6/28 - 2
7-55220290-CC-AA c.680_681delinsAA p.S227* Nonsense 6/28 - 1
7-55220290-C-T c.680C>T p.S227F Missense 6/28 - 13
7-55220291-C-A c.681C>A p.S227= Synonymous 6/28 - 2
7-55220291-C-G c.681C>G p.S227= Synonymous 6/28 - 1
7-55220291-C-T c.681C>T p.S227= Synonymous 6/28 - 1
7-55220292-CCC-GAG c.682_684delinsGAG p.P228E Missense 6/28 - 1
7-55220292-C-G c.682C>G p.P228A Missense 6/28 - 2
7-55220292-C-T c.682C>T p.P228S Missense 6/28 - 5
7-55220293-C-A c.683C>A p.P228H Missense 6/28 - 3
7-55220293-C-G c.683C>G p.P228R Missense 6/28 - 1
7-55220293-C-T c.683C>T p.P228L Missense 6/28 - 7
7-55220294-C-A c.684C>A p.P228= Synonymous 6/28 - 1
7-55220294-C-G c.684C>G p.P228= Synonymous 6/28 - 1
7-55220294-C-T c.684C>T p.P228= Synonymous 6/28 - 2
7-55220295-A-G c.685A>G p.S229G Missense 6/28 - 1
7-55220295-AG-CC c.685_686delinsCC p.S229P Missense 6/28 - 3
7-55220295-AG-GA c.685_686delinsGA p.S229D Missense 6/28 - 2
7-55220295-AG-GC c.685_686delinsGC p.S229A Missense 6/28 - 2
7-55220295-AG-TA c.685_686delinsTA p.S229Y Missense 6/28 - 1
7-55220295-AGT-GAG c.685_687delinsGAG p.S229E Missense 6/28 - 1
7-55220295-AG-TT c.685_686delinsTT p.S229F Missense 6/28 - 1
7-55220295-AGT-TGA c.685_687delinsTGA p.S229* Nonsense 6/28 - 1
7-55220295-A-T c.685A>T p.S229C Missense 6/28 - 25
7-55220296-G-A c.686G>A p.S229N Missense 6/28 - 4
7-55220296-G-C c.686G>C p.S229T Missense 6/28 - 1
7-55220295-AGT-A c.687_688del p.S229Rfs*69 Frameshift 6/28 - 1
7-55220297-T-A c.687T>A p.S229R Missense 6/28 - 1
7-55220298-G-A c.688G>A p.D230N Missense 6/28 - 1
7-55220299-A-C c.689A>C p.D230A Missense 6/28 - 2
7-55220299-A-G c.689A>G p.D230G Missense 6/28 - 1
7-55220300-C-A c.690C>A p.D230E Missense 6/28 - 1
7-55220300-C-T c.690C>T p.D230= Synonymous 6/28 - 1
7-55220301-T-A c.691T>A p.C231S Missense 6/28 - 2
7-55220301-T-G c.691T>G p.C231G Missense 6/28 - 1
7-55220302-G-A c.692G>A p.C231Y Missense 6/28 - 4
7-55220302-G-C c.692G>C p.C231S Missense 6/28 - 7
7-55220302-G-T c.692G>T p.C231F Missense 6/28 - 1
7-55220303-C-A c.693C>A p.C231* Nonsense 6/28 - 1
7-55220303-C-T c.693C>T p.C231= Synonymous 6/28 - 1
7-55220304-T-C c.694T>C p.C232R Missense 6/28 - 1
7-55220304-TG-GC c.694_695delinsGC p.C232A Missense 6/28 - 1
7-55220305-G-T c.695G>T p.C232F Missense 6/28 - 1
7-55220306-C-T c.696C>T p.C232= Synonymous 6/28 - 1
7-55220307-C-A c.697C>A p.H233N Missense 6/28 - 1
7-55220307-CAC-ATG c.697_699delinsATG p.H233M Missense 6/28 - 1
7-55220307-CCACAACCAGTGTGCT-C c.697_711del p.H233_A237del InFrameDeletion 6/28 - 1
7-55220307-C-T c.697C>T p.H233Y Missense 6/28 - 1
7-55220308-A-C c.698A>C p.H233P Missense 6/28 - 2
7-55220308-A-G c.698A>G p.H233R Missense 6/28 - 1
7-55220310-A-G c.700A>G p.N234D Missense 6/28 - 3
7-55220311-A-C c.701A>C p.N234T Missense 6/28 - 1
7-55220311-A-G c.701A>G p.N234S Missense 6/28 - 6
7-55220313-CAG-GAC c.703_705delinsGAC p.Q235D Missense 6/28 - 1
7-55220313-C-CG c.703_704insG p.Q235Rfs*64 Frameshift 6/28 - 1
7-55220313-C-CGT c.703_704insGT p.Q235Rfs*46 Frameshift 6/28 - 1
7-55220313-C-G c.703C>G p.Q235E Missense 6/28 - 1
7-55220314-A-G c.704A>G p.Q235R Missense 6/28 - 2
7-55220316-T-C c.706T>C p.C236R Missense 6/28 - 3
7-55220316-TG-GC c.706_707delinsGC p.C236A Missense 6/28 - 1
7-55220317-G-C c.707G>C p.C236S Missense 6/28 - 1
7-55220317-G-T c.707G>T p.C236F Missense 6/28 - 3
7-55220318-T-A c.708T>A p.C236* Nonsense 6/28 - 1
7-55220318-T-G c.708T>G p.C236W Missense 6/28 - 1
7-55220319-G-A c.709G>A p.A237T Missense 6/28 - 3
7-55220319-GC-AA c.709_710delinsAA p.A237N Missense 6/28 - 1
7-55220319-GC-TA c.709_710delinsTA p.A237Y Missense 6/28 - 1
7-55220319-GC-TT c.709_710delinsTT p.A237F Missense 6/28 - 2
7-55220319-G-T c.709G>T p.A237S Missense 6/28 - 1
7-55220320-C-A c.710C>A p.A237D Missense 6/28 - 1
7-55220320-C-T c.710C>T p.A237V Missense 6/28 - 3
7-55220322-G-A c.712G>A p.A238T Missense 6/28 - 1
7-55220323-C-T c.713C>T p.A238V Missense 6/28 - 2
7-55220324-A-C c.714A>C p.A238= Synonymous 6/28 - 2
7-55220324-A-G c.714A>G p.A238= Synonymous 6/28 - 2
7-55220324-A-T c.714A>T p.A238= Synonymous 6/28 - 2
7-55220325-G-A c.715G>A p.G239S Missense 6/28 - 2
7-55220325-G-C c.715G>C p.G239R Missense 6/28 - 1
7-55220325-GG-AC c.715_716delinsAC p.G239T Missense 6/28 - 1
7-55220325-GGC-TGA c.715_717delinsTGA p.G239* Nonsense 6/28 - 1
7-55220325-GGC-TGG c.715_717delinsTGG p.G239W Missense 6/28 - 1
7-55220325-G-T c.715G>T p.G239C Missense 6/28 - 3
7-55220326-G-A c.716G>A p.G239D Missense 6/28 - 3
7-55220326-G-C c.716G>C p.G239A Missense 6/28 - 11
7-55220326-GC-AG c.716_717delinsAG p.G239E Missense 6/28 - 1
7-55220326-G-T c.716G>T p.G239V Missense 6/28 - 1
7-55220327-C-A c.717C>A p.G239= Synonymous 6/28 - 1
7-55220327-C-G c.717C>G p.G239= Synonymous 6/28 - 1
7-55220327-C-T c.717C>T p.G239= Synonymous 6/28 - 1
7-55220328-T-C c.718T>C p.C240R Missense 6/28 - 2
7-55220329-G-A c.719G>A p.C240Y Missense 6/28 - 8
7-55220330-C-A c.720C>A p.C240* Nonsense 6/28 - 1
7-55220330-C-T c.720C>T p.C240= Synonymous 6/28 - 1
7-55220330-C-CAGT c.721_722insGTA p.C240_T241insS InFrameInsertion 6/28 - 1
7-55220331-A-C c.721A>C p.T241P Missense 6/28 - 2
7-55220332-CA-TG c.722_723inv p.T241M Missense 6/28 - 3
7-55220332-C-T c.722C>T p.T241I Missense 6/28 - 6
7-55220333-A-C c.723A>C p.T241= Synonymous 6/28 - 1
7-55220333-A-G c.723A>G p.T241= Synonymous 6/28 - 2
7-55220333-A-T c.723A>T p.T241= Synonymous 6/28 - 1
7-55220333-CA-C c.723del p.G242Afs*38 Frameshift 6/28 - 1
7-55220334-G-A c.724G>A p.G242S Missense 6/28 - 2
7-55220334-G-T c.724G>T p.G242C Missense 6/28 - 1
7-55220335-G-A c.725G>A p.G242D Missense 6/28 - 3
7-55220335-G-T c.725G>T p.G242V Missense 6/28 - 1
7-55220336-C-G c.726C>G p.G242= Synonymous 6/28 - 1
7-55220336-C-T c.726C>T p.G242= Synonymous 6/28 - 1
7-55220337-C-A c.727C>A p.P243T Missense 6/28 - 1
7-55220337-C-CGT c.727_728insGT p.P243Rfs*38 Frameshift 6/28 - 1
7-55220337-C-G c.727C>G p.P243A Missense 6/28 - 1
7-55220337-C-T c.727C>T p.P243S Missense 6/28 - 2
7-55220338-C-A c.728C>A p.P243H Missense 6/28 - 1
7-55220338-C-G c.728C>G p.P243R Missense 6/28 - 1
7-55220338-C-T c.728C>T p.P243L Missense 6/28 - 1
7-55220339-C-A c.729C>A p.P243= Synonymous 6/28 - 1
7-55220339-C-G c.729C>G p.P243= Synonymous 6/28 - 1
7-55220339-C-T c.729C>T p.P243= Synonymous 6/28 - 2
7-55220335-GC-G c.730del p.R244Gfs*36 Frameshift 6/28 - 2
7-55220340-C-G c.730C>G p.R244G Missense 6/28 - 4
7-55220340-CG-AC c.730_731delinsAC p.R244T Missense 6/28 - 1
7-55220340-CGG-AGC c.730_732delinsAGC p.R244S Missense 6/28 - 4
7-55220340-CG-GC c.730_731delinsGC p.R244A Missense 6/28 - 1
7-55220340-CGG-TGT c.730_732delinsTGT p.R244C Missense 6/28 - 4
7-55220340-C-T c.730C>T p.R244W Missense 6/28 - 7
7-55220341-G-A c.731G>A p.R244Q Missense 6/28 - 6
7-55220341-GG-AT c.731_732delinsAT p.R244H Missense 6/28 - 4
7-55220342-G-A c.732G>A p.R244= Synonymous 6/28 - 1
7-55220343-G-A c.733G>A p.E245K Missense 6/28 - 4
7-55220343-G-C c.733G>C p.E245Q Missense 6/28 - 1
7-55220343-G-T c.733G>T p.E245* Nonsense 6/28 - 1
7-55220344-A-C c.734A>C p.E245A Missense 6/28 - 1
7-55220344-A-G c.734A>G p.E245G Missense 6/28 - 3
7-55220344-A-T c.734A>T p.E245V Missense 6/28 - 2
7-55220345-G-GT c.735_736insT p.S246* Nonsense 6/28 - 1
7-55220346-A-G c.736A>G p.S246G Missense 6/28 - 1
7-55220346-AG-GC c.736_737delinsGC p.S246A Missense 6/28 - 1
7-55220346-AG-TT c.736_737delinsTT p.S246F Missense 6/28 - 1
7-55220347-G-A c.737G>A p.S246N Missense 6/28 - 2
7-55220346-A-C c.736A>C p.S246R Missense 6/28 - 1
7-55220348-C-A c.738C>A p.S246R Missense 6/28 - 4
7-55220348-C-G c.738C>G p.S246R Missense 6/28 - 1
7-55220348-C-T c.738C>T p.S246= Synonymous 6/28 - 8
7-55220349-G-A c.739G>A p.D247N Missense 6/28 - 8
7-55220349-G-C c.739G>C p.D247H Missense 6/28 - 2
7-55220349-G-T c.739G>T p.D247Y Missense 6/28 - 5
7-55220350-A-G c.740A>G p.D247G Missense 6/28 - 1
7-55220350-GACTGCC-G c.740_745del p.D247_L249delinsV MultiAAMissense 6/28 - 1
7-55220351-C-A c.741C>A p.D247E Missense 6/28 - 1
7-55220351-C-G c.741C>G p.D247E Missense 6/28 - 1
7-55220353-G-A c.743G>A p.C248Y Missense 6/28 - 4
7-55220353-G-T c.743G>T p.C248F Missense 6/28 - 2
7-55220353-GC-G c.745del p.L249Wfs*31 Frameshift 6/28 - 1
7-55220355-C-G c.745C>G p.L249V Missense 6/28 - 1
7-55220355-CTG-ATC c.745_747delinsATC p.L249I Missense 6/28 - 1
7-55220355-CTG-TTT c.745_747delinsTTT p.L249F Missense 6/28 - 1
7-55220356-T-A c.746T>A p.L249Q Missense 6/28 - 1
7-55220356-T-C c.746T>C p.L249P Missense 6/28 - 4
7-55220355-C-T c.745C>T p.L249= Synonymous 6/28 - 1
7-55220357-G-A c.747G>A p.L249= Synonymous 6/28 - 2
7-55220357-G-C c.747G>C p.L249= Synonymous 6/28 - 1
7-55220357-G-T c.747G>T p.L249= Synonymous 6/28 - 3
7-55220358-G-T c.747+1G>T - IntronicSNV - 6/27 1
7-55220359-T-A c.747+2T>A - IntronicSNV - 6/27 1
7-55220369-C-T c.747+12C>T - IntronicSNV - 6/27 1
7-55220370-T-C c.747+13T>C - IntronicSNV - 6/27 2
7-55220526-C-T c.747+169C>T - IntronicSNV - 6/27 1
7-55220652-T-C c.747+295T>C - IntronicSNV - 6/27 1
7-55220812-A-T c.747+455A>T - IntronicSNV - 6/27 1
7-55220905-C-T c.747+548C>T - IntronicSNV - 6/27 4
7-55220934-G-A c.747+577G>A - IntronicSNV - 6/27 1
7-55220934-G-T c.747+577G>T - IntronicSNV - 6/27 1
7-55221167-A-G c.748-537A>G - IntronicSNV - 6/27 2
7-55221447-C-G c.748-257C>G - IntronicSNV - 6/27 6
7-55221451-C-G c.748-253C>G - IntronicSNV - 6/27 1
7-55221451-C-T c.748-253C>T - IntronicSNV - 6/27 1
7-55221469-C-T c.748-235C>T - IntronicSNV - 6/27 2
7-55221511-G-T c.748-193G>T - IntronicSNV - 6/27 1
7-55221629-C-T c.748-75C>T - IntronicSNV - 6/27 1
7-55221655-G-A c.748-49G>A - IntronicSNV - 6/27 21
7-55221700-A-G c.748-4A>G - IntronicSNV - 6/27 1
7-55221701-T-C c.748-3T>C - IntronicSNV - 6/27 1
7-55221703-G-C c.748-1G>C - IntronicSNV - 6/27 1
7-55221704-G-A c.748G>A p.V250I Missense 7/28 - 3
7-55221704-G-C c.748G>C p.V250L Missense 7/28 - 1
7-55221708-G-A c.752G>A p.C251Y Missense 7/28 - 5
7-55221708-G-T c.752G>T p.C251F Missense 7/28 - 2
7-55221709-C-T c.753C>T p.C251= Synonymous 7/28 - 1
7-55221708-GC-G c.754del p.R252Afs*28 Frameshift 7/28 - 1
7-55221710-C-A c.754C>A p.R252S Missense 7/28 - 1
7-55221710-C-G c.754C>G p.R252G Missense 7/28 - 3
7-55221710-CG-AT c.754_755delinsAT p.R252I Missense 7/28 - 1
7-55221710-CGC-AAG c.754_756delinsAAG p.R252K Missense 7/28 - 1
7-55221710-CGC-TGG c.754_756delinsTGG p.R252W Missense 7/28 - 1
7-55221710-CG-GA c.754_755delinsGA p.R252D Missense 7/28 - 1
7-55221710-C-T c.754C>T p.R252C Missense 7/28 - 42
7-55221711-G-A c.755G>A p.R252H Missense 7/28 - 21
7-55221711-G-C c.755G>C p.R252P Missense 7/28 - 18
7-55221711-GC-AA c.755_756delinsAA p.R252Q Missense 7/28 - 2
7-55221711-G-T c.755G>T p.R252L Missense 7/28 - 1
7-55221713-AA-GC c.757_758delinsGC p.K253A Missense 7/28 - 1
7-55221713-A-G c.757A>G p.K253E Missense 7/28 - 1
7-55221713-A-T c.757A>T p.K253* Nonsense 7/28 - 2
7-55221714-A-G c.758A>G p.K253R Missense 7/28 - 8
7-55221712-C-CA c.759dup p.F254Ifs*45 Frameshift 7/28 - 1
7-55221715-A-C c.759A>C p.K253N Missense 7/28 - 2
7-55221715-A-T c.759A>T p.K253N Missense 7/28 - 2
7-55221716-T-A c.760T>A p.F254I Missense 7/28 - 20
7-55221716-T-C c.760T>C p.F254L Missense 7/28 - 1
7-55221718-C-A c.762C>A p.F254L Missense 7/28 - 1
7-55221718-C-G c.762C>G p.F254L Missense 7/28 - 1
7-55221717-T-A c.761T>A p.F254Y Missense 7/28 - 1
7-55221717-T-C c.761T>C p.F254S Missense 7/28 - 8
7-55221718-C-T c.762C>T p.F254= Synonymous 7/28 - 5
7-55221719-C-A c.763C>A p.R255= Synonymous 7/28 - 1
7-55221719-CGA-AGC c.763_765delinsAGC p.R255S Missense 7/28 - 1
7-55221719-CG-AT c.763_764delinsAT p.R255I Missense 7/28 - 1
7-55221719-CGA-TGG c.763_765delinsTGG p.R255W Missense 7/28 - 1
7-55221719-CGA-TGT c.763_765delinsTGT p.R255C Missense 7/28 - 1
7-55221719-C-T c.763C>T p.R255* Nonsense 7/28 - 13
7-55221720-G-A c.764G>A p.R255Q Missense 7/28 - 15
7-55221720-GA-AT c.764_765delinsAT p.R255H Missense 7/28 - 1
7-55221720-G-T c.764G>T p.R255L Missense 7/28 - 3
7-55221722-G-A c.766G>A p.D256N Missense 7/28 - 2
7-55221722-G-T c.766G>T p.D256Y Missense 7/28 - 16
7-55221723-A-C c.767A>C p.D256A Missense 7/28 - 2
7-55221723-A-G c.767A>G p.D256G Missense 7/28 - 14
7-55221723-A-T c.767A>T p.D256V Missense 7/28 - 3
7-55221724-C-A c.768C>A p.D256E Missense 7/28 - 1
7-55221724-C-G c.768C>G p.D256E Missense 7/28 - 1
7-55221724-C-T c.768C>T p.D256= Synonymous 7/28 - 3
7-55221725-G-A c.769G>A p.E257K Missense 7/28 - 19
7-55221726-A-C c.770A>C p.E257A Missense 7/28 - 1
7-55221726-A-G c.770A>G p.E257G Missense 7/28 - 1
7-55221727-A-T c.771A>T p.E257D Missense 7/28 - 1
7-55221728-G-A c.772G>A p.A258T Missense 7/28 - 1
7-55221728-G-C c.772G>C p.A258P Missense 7/28 - 3
7-55221728-G-T c.772G>T p.A258S Missense 7/28 - 1
7-55221729-C-T c.773C>T p.A258V Missense 7/28 - 2
7-55221730-C-T c.774C>T p.A258= Synonymous 7/28 - 3
7-55221731-A-C c.775A>C p.T259P Missense 7/28 - 1
7-55221731-A-G c.775A>G p.T259A Missense 7/28 - 3
7-55221731-A-T c.775A>T p.T259S Missense 7/28 - 3
7-55221732-CG-TC c.776_777delinsTC p.T259I Missense 7/28 - 2
7-55221732-C-T c.776C>T p.T259M Missense 7/28 - 15
7-55221733-G-A c.777G>A p.T259= Synonymous 7/28 - 8
7-55221733-G-C c.777G>C p.T259= Synonymous 7/28 - 9
7-55221733-G-T c.777G>T p.T259= Synonymous 7/28 - 6
7-55221734-TG-CA c.778_779inv p.C260H Missense 7/28 - 1
7-55221735-G-A c.779G>A p.C260Y Missense 7/28 - 5
7-55221735-G-GGGAA c.779_780insGGAA p.C260Wfs*40 Frameshift 7/28 - 1
7-55221735-G-T c.779G>T p.C260F Missense 7/28 - 2
7-55221736-C-A c.780C>A p.C260* Nonsense 7/28 - 3
7-55221738-A-G c.782A>G p.K261R Missense 7/28 - 1
7-55221739-G-A c.783G>A p.K261= Synonymous 7/28 - 2
7-55221739-G-C c.783G>C p.K261N Missense 7/28 - 8
7-55221739-G-T c.783G>T p.K261N Missense 7/28 - 11
7-55221740-G-A c.784G>A p.D262N Missense 7/28 - 2
7-55221740-G-T c.784G>T p.D262Y Missense 7/28 - 2
7-55221741-A-C c.785A>C p.D262A Missense 7/28 - 4
7-55221742-C-A c.786C>A p.D262E Missense 7/28 - 1
7-55221742-C-T c.786C>T p.D262= Synonymous 7/28 - 1
7-55221741-ACAC-A c.787_789del p.T263del InFrameDeletion 7/28 - 1
7-55221743-A-C c.787A>C p.T263P Missense 7/28 - 76
7-55221743-ACC-CAA c.787_789delinsCAA p.T263Q Missense 7/28 - 1
7-55221743-A-G c.787A>G p.T263A Missense 7/28 - 4
7-55221744-C-T c.788C>T p.T263I Missense 7/28 - 8
7-55221745-C-T c.789C>T p.T263= Synonymous 7/28 - 2
7-55221746-TG-AT c.790_791delinsAT p.C264I Missense 7/28 - 1
7-55221746-TG-GC c.790_791delinsGC p.C264A Missense 7/28 - 1
7-55221747-G-A c.791G>A p.C264Y Missense 7/28 - 7
7-55221748-C-A c.792C>A p.C264* Nonsense 7/28 - 1
7-55221749-C-A c.793C>A p.P265T Missense 7/28 - 1
7-55221749-C-G c.793C>G p.P265A Missense 7/28 - 1
7-55221749-C-T c.793C>T p.P265S Missense 7/28 - 1
7-55221750-C-A c.794C>A p.P265H Missense 7/28 - 3
7-55221750-C-G c.794C>G p.P265R Missense 7/28 - 2
7-55221750-C-T c.794C>T p.P265L Missense 7/28 - 4
7-55221751-C-A c.795C>A p.P265= Synonymous 7/28 - 1
7-55221752-C-T c.796C>T p.P266S Missense 7/28 - 1
7-55221747-GC-G c.797del p.P266Hfs*14 Frameshift 7/28 - 1
7-55221747-G-GC c.797dup p.L267Tfs*32 Frameshift 7/28 - 1
7-55221753-C-A c.797C>A p.P266Q Missense 7/28 - 8
7-55221753-C-G c.797C>G p.P266R Missense 7/28 - 6
7-55221753-C-T c.797C>T p.P266L Missense 7/28 - 5
7-55221754-A-C c.798A>C p.P266= Synonymous 7/28 - 2
7-55221754-A-G c.798A>G p.P266= Synonymous 7/28 - 2
7-55221754-A-T c.798A>T p.P266= Synonymous 7/28 - 2
7-55221755-C-G c.799C>G p.L267V Missense 7/28 - 3
7-55221756-T-C c.800T>C p.L267P Missense 7/28 - 1
7-55221756-T-G c.800T>G p.L267R Missense 7/28 - 2
7-55221758-A-G c.802A>G p.M268V Missense 7/28 - 2
7-55221759-T-A c.803T>A p.M268K Missense 7/28 - 1
7-55221759-T-C c.803T>C p.M268T Missense 7/28 - 3
7-55221761-C-A c.805C>A p.L269I Missense 7/28 - 2
7-55221761-C-T c.805C>T p.L269F Missense 7/28 - 1
7-55221761-CTC-ATG c.805_807delinsATG p.L269M Missense 7/28 - 1
7-55221761-CT-GC c.805_806delinsGC p.L269A Missense 7/28 - 1
7-55221762-T-C c.806T>C p.L269P Missense 7/28 - 1
7-55221763-C-A c.807C>A p.L269= Synonymous 7/28 - 3
7-55221763-C-G c.807C>G p.L269= Synonymous 7/28 - 3
7-55221763-C-T c.807C>T p.L269= Synonymous 7/28 - 5
7-55221764-T-C c.808T>C p.Y270H Missense 7/28 - 1
7-55221764-T-G c.808T>G p.Y270D Missense 7/28 - 1
7-55221765-A-G c.809A>G p.Y270C Missense 7/28 - 12
7-55221766-C-A c.810C>A p.Y270* Nonsense 7/28 - 3
7-55221766-C-G c.810C>G p.Y270* Nonsense 7/28 - 1
7-55221768-A-G c.812A>G p.N271S Missense 7/28 - 2
7-55221768-A-T c.812A>T p.N271I Missense 7/28 - 1
7-55221769-C-A c.813C>A p.N271K Missense 7/28 - 3
7-55221769-C-G c.813C>G p.N271K Missense 7/28 - 3
7-55221769-C-T c.813C>T p.N271= Synonymous 7/28 - 2
7-55221770-C-T c.814C>T p.P272S Missense 7/28 - 2
7-55221771-C-A c.815C>A p.P272H Missense 7/28 - 3
7-55221771-C-T c.815C>T p.P272L Missense 7/28 - 8
7-55221769-CCCCA-C c.816_819del p.T273Rfs*6 Frameshift 7/28 - 1
7-55221772-C-A c.816C>A p.P272= Synonymous 7/28 - 1
7-55221773-A-C c.817A>C p.T273P Missense 7/28 - 1
7-55221773-AC-CA c.817_818delinsCA p.T273H Missense 7/28 - 1
7-55221773-ACC-TAA c.817_819delinsTAA p.T273* Nonsense 7/28 - 1
7-55221773-A-G c.817A>G p.T273A Missense 7/28 - 11
7-55221773-CA-C c.817del p.T273Pfs*7 Frameshift 7/28 - 1
7-55221773-A-T c.817A>T p.T273S Missense 7/28 - 3
7-55221774-C-A c.818C>A p.T273N Missense 7/28 - 2
7-55221774-C-G c.818C>G p.T273S Missense 7/28 - 3
7-55221774-C-T c.818C>T p.T273I Missense 7/28 - 3
7-55221775-C-A c.819C>A p.T273= Synonymous 7/28 - 1
7-55221775-C-G c.819C>G p.T273= Synonymous 7/28 - 1
7-55221775-C-T c.819C>T p.T273= Synonymous 7/28 - 1
7-55221776-A-G c.820A>G p.T274A Missense 7/28 - 3
7-55221777-C-A c.821C>A p.T274K Missense 7/28 - 2
7-55221777-CG-TC c.821_822delinsTC p.T274I Missense 7/28 - 3
7-55221777-C-T c.821C>T p.T274M Missense 7/28 - 7
7-55221778-G-A c.822G>A p.T274= Synonymous 7/28 - 3
7-55221779-T-G c.823T>G p.Y275D Missense 7/28 - 1
7-55221780-A-T c.824A>T p.Y275F Missense 7/28 - 4
7-55221781-C-T c.825C>T p.Y275= Synonymous 7/28 - 4
7-55221782-C-A c.826C>A p.Q276K Missense 7/28 - 1
7-55221782-C-T c.826C>T p.Q276* Nonsense 7/28 - 3
7-55221783-A-C c.827A>C p.Q276P Missense 7/28 - 1
7-55221783-A-G c.827A>G p.Q276R Missense 7/28 - 4
7-55221783-A-T c.827A>T p.Q276L Missense 7/28 - 10
7-55221784-G-C c.828G>C p.Q276H Missense 7/28 - 3
7-55221784-G-T c.828G>T p.Q276H Missense 7/28 - 5
7-55221785-A-G c.829A>G p.M277V Missense 7/28 - 1
7-55221785-AT-GA c.829_830delinsGA p.M277E Missense 7/28 - 10
7-55221786-T-C c.830T>C p.M277T Missense 7/28 - 1
7-55221788-G-A c.832G>A p.D278N Missense 7/28 - 6
7-55221788-G-ATCT c.832delinsATCT p.D278delinsIY MultiAAMissense 7/28 - 1
7-55221788-G-C c.832G>C p.D278H Missense 7/28 - 1
7-55221788-G-T c.832G>T p.D278Y Missense 7/28 - 2
7-55221789-A-C c.833A>C p.D278A Missense 7/28 - 1
7-55221789-A-G c.833A>G p.D278G Missense 7/28 - 3
7-55221789-A-T c.833A>T p.D278V Missense 7/28 - 3
7-55221792-T-C c.836T>C p.V279A Missense 7/28 - 1
7-55221792-T-TC c.836_837insC p.N280Efs*19 Frameshift 7/28 - 1
7-55221793-G-A c.837G>A p.V279= Synonymous 7/28 - 5
7-55221793-GA-CG c.837_838delinsCG p.N280D Missense 7/28 - 1
7-55221793-G-C c.837G>C p.V279= Synonymous 7/28 - 4
7-55221793-G-T c.837G>T p.V279= Synonymous 7/28 - 4
7-55221794-A-G c.838A>G p.N280D Missense 7/28 - 1
7-55221795-A-C c.839A>C p.N280T Missense 7/28 - 1
7-55221795-A-G c.839A>G p.N280S Missense 7/28 - 1
7-55221796-C-A c.840C>A p.N280K Missense 7/28 - 2
7-55221796-C-G c.840C>G p.N280K Missense 7/28 - 2
7-55221796-C-T c.840C>T p.N280= Synonymous 7/28 - 2
7-55221797-C-A c.841C>A p.P281T Missense 7/28 - 1
7-55221797-C-G c.841C>G p.P281A Missense 7/28 - 1
7-55221797-C-T c.841C>T p.P281S Missense 7/28 - 3
7-55221798-CC-AA c.842_843delinsAA p.P281Q Missense 7/28 - 1
7-55221798-C-G c.842C>G p.P281R Missense 7/28 - 1
7-55221798-C-T c.842C>T p.P281L Missense 7/28 - 5
7-55221799-C-T c.843C>T p.P281= Synonymous 7/28 - 1
7-55221800-G-A c.844G>A p.E282K Missense 7/28 - 37
7-55221800-G-C c.844G>C p.E282Q Missense 7/28 - 2
7-55221800-G-T c.844G>T p.E282* Nonsense 7/28 - 1
7-55221801-A-C c.845A>C p.E282A Missense 7/28 - 1
7-55221801-A-T c.845A>T p.E282V Missense 7/28 - 2
7-55221802-G-C c.846G>C p.E282D Missense 7/28 - 2
7-55221802-G-T c.846G>T p.E282D Missense 7/28 - 3
7-55221803-G-A c.847G>A p.G283S Missense 7/28 - 2
7-55221803-G-T c.847G>T p.G283C Missense 7/28 - 1
7-55221804-G-A c.848G>A p.G283D Missense 7/28 - 3
7-55221804-G-C c.848G>C p.G283A Missense 7/28 - 2
7-55221804-G-T c.848G>T p.G283V Missense 7/28 - 3
7-55221806-A-G c.850A>G p.K284E Missense 7/28 - 2
7-55221808-A-C c.852A>C p.K284N Missense 7/28 - 1
7-55221808-A-G c.852A>G p.K284= Synonymous 7/28 - 1
7-55221808-A-T c.852A>T p.K284N Missense 7/28 - 1
7-55221809-T-A c.853T>A p.Y285N Missense 7/28 - 1
7-55221809-T-C c.853T>C p.Y285H Missense 7/28 - 2
7-55221810-A-G c.854A>G p.Y285C Missense 7/28 - 6
7-55221810-A-T c.854A>T p.Y285F Missense 7/28 - 1
7-55221812-AGC-GAG c.856_858delinsGAG p.S286E Missense 7/28 - 1
7-55221812-AG-CT c.856_857inv p.S286L Missense 7/28 - 1
7-55221812-AGC-TGA c.856_858delinsTGA p.S286* Nonsense 7/28 - 1
7-55221812-A-T c.856A>T p.S286C Missense 7/28 - 1
7-55221813-AG-A c.857del p.S286Tfs*7 Frameshift 7/28 - 1
7-55221813-G-A c.857G>A p.S286N Missense 7/28 - 1
7-55221813-G-T c.857G>T p.S286I Missense 7/28 - 2
7-55221812-A-C c.856A>C p.S286R Missense 7/28 - 3
7-55221814-C-A c.858C>A p.S286R Missense 7/28 - 3
7-55221814-C-G c.858C>G p.S286R Missense 7/28 - 3
7-55221815-T-A c.859T>A p.F287I Missense 7/28 - 1
7-55221815-T-C c.859T>C p.F287L Missense 7/28 - 3
7-55221817-T-A c.861T>A p.F287L Missense 7/28 - 2
7-55221817-T-G c.861T>G p.F287L Missense 7/28 - 1
7-55221816-T-C c.860T>C p.F287S Missense 7/28 - 1
7-55221814-CT-C c.861del p.F287Lfs*6 Frameshift 7/28 - 1
7-55221817-T-C c.861T>C p.F287= Synonymous 7/28 - 1
7-55221817-T-TCATGCA c.861_862insCATGCA p.F287_G288insHA InFrameInsertion 7/28 - 1
7-55221818-G-A c.862G>A p.G288S Missense 7/28 - 4
7-55221818-G-T c.862G>T p.G288C Missense 7/28 - 3
7-55221817-TG-T c.863del p.G288Vfs*5 Frameshift 7/28 - 1
7-55221819-G-A c.863G>A p.G288D Missense 7/28 - 2
7-55221819-G-T c.863G>T p.G288V Missense 7/28 - 1
7-55221820-T-C c.864T>C p.G288= Synonymous 7/28 - 1
7-55221821-G-A c.865G>A p.A289T Missense 7/28 - 83
7-55221821-G-C c.865G>C p.A289P Missense 7/28 - 2
7-55221821-GC-AA c.865_866delinsAA p.A289N Missense 7/28 - 11
7-55221821-GC-AT c.865_866delinsAT p.A289I Missense 7/28 - 12
7-55221821-GCCACC-TGGTGG c.865_870delinsTGGTGG p.A289_T290delinsWW MultiAAMissense 7/28 - 2
7-55221821-GCC-TAA c.865_867delinsTAA p.A289* Nonsense 7/28 - 3
7-55221821-GC-TA c.865_866delinsTA p.A289Y Missense 7/28 - 2
7-55221821-G-T c.865G>T p.A289S Missense 7/28 - 1
7-55221822-C-A c.866C>A p.A289D Missense 7/28 - 83
7-55221822-CC-AG c.866_867delinsAG p.A289E Missense 7/28 - 1
7-55221822-CC-TT c.866_867delinsTT p.A289V Missense 7/28 - 1
7-55221822-C-G c.866C>G p.A289G Missense 7/28 - 2
7-55221822-C-T c.866C>T p.A289V Missense 7/28 - 210
7-55221823-C-A c.867C>A p.A289= Synonymous 7/28 - 3
7-55221823-C-G c.867C>G p.A289= Synonymous 7/28 - 3
7-55221823-C-T c.867C>T p.A289= Synonymous 7/28 - 4
7-55221824-A-C c.868A>C p.T290P Missense 7/28 - 1
7-55221824-A-G c.868A>G p.T290A Missense 7/28 - 1
7-55221825-CC-TG c.869_870delinsTG p.T290M Missense 7/28 - 6
7-55221825-C-T c.869C>T p.T290I Missense 7/28 - 5
7-55221826-C-A c.870C>A p.T290= Synonymous 7/28 - 2
7-55221826-C-G c.870C>G p.T290= Synonymous 7/28 - 2
7-55221826-C-T c.870C>T p.T290= Synonymous 7/28 - 2
7-55221825-CCTG-C c.871_873del p.C291del InFrameDeletion 7/28 - 1
7-55221827-T-A c.871T>A p.C291S Missense 7/28 - 1
7-55221827-T-C c.871T>C p.C291R Missense 7/28 - 2
7-55221828-G-C c.872G>C p.C291S Missense 7/28 - 1
7-55221828-G-A c.872G>A p.C291Y Missense 7/28 - 4
7-55221828-G-T c.872G>T p.C291F Missense 7/28 - 2
7-55221829-C-A c.873C>A p.C291* Nonsense 7/28 - 1
7-55221829-C-T c.873C>T p.C291= Synonymous 7/28 - 5
7-55221830-G-A c.874G>A p.V292M Missense 7/28 - 16
7-55221830-G-C c.874G>C p.V292L Missense 7/28 - 14
7-55221830-G-T c.874G>T p.V292L Missense 7/28 - 18
7-55221831-T-A c.875T>A p.V292E Missense 7/28 - 1
7-55221831-T-C c.875T>C p.V292A Missense 7/28 - 6
7-55221831-T-G c.875T>G p.V292G Missense 7/28 - 1
7-55221832-G-A c.876G>A p.V292= Synonymous 7/28 - 3
7-55221832-GA-G c.878del p.K293Rfs*9 Frameshift 7/28 - 1
7-55221834-A-C c.878A>C p.K293T Missense 7/28 - 2
7-55221834-A-G c.878A>G p.K293R Missense 7/28 - 3
7-55221835-G-A c.879G>A p.K293= Synonymous 7/28 - 2
7-55221835-G-T c.879G>T p.K293N Missense 7/28 - 2
7-55221836-A-G c.880A>G p.K294E Missense 7/28 - 2
7-55221836-GAA-G c.880_881del p.K294Vfs*4 Frameshift 7/28 - 1
7-55221837-A-C c.881A>C p.K294T Missense 7/28 - 2
7-55221837-A-G c.881A>G p.K294R Missense 7/28 - 2
7-55221838-G-C c.882G>C p.K294N Missense 7/28 - 1
7-55221838-G-T c.882G>T p.K294N Missense 7/28 - 1
7-55221839-T-C c.883T>C p.C295R Missense 7/28 - 3
7-55221839-TG-GC c.883_884delinsGC p.C295A Missense 7/28 - 1
7-55221840-G-A c.884G>A p.C295Y Missense 7/28 - 2
7-55221840-G-T c.884G>T p.C295F Missense 7/28 - 3
7-55221842-C-A c.886C>A p.P296T Missense 7/28 - 2
7-55221842-C-G c.886C>G p.P296A Missense 7/28 - 1
7-55221842-C-T c.886C>T p.P296S Missense 7/28 - 2
7-55221843-C-T c.887C>T p.P296L Missense 7/28 - 3
7-55221844-C-A c.888C>A p.P296= Synonymous 7/28 - 1
7-55221844-C-G c.888C>G p.P296= Synonymous 7/28 - 1
7-55221844-C-T c.888C>T p.P296= Synonymous 7/28 - 1
7-55221845-C-A c.889C>A p.R297S Missense 7/28 - 1
7-55221845-C-T c.889C>T p.R297C Missense 7/28 - 9
7-55221846-G-A c.889+1G>A - IntronicSNV - 7/27 5
7-55221848-G-A c.889+3G>A - IntronicSNV - 7/27 1
7-55221850-G-A c.889+5G>A - IntronicSNV - 7/27 1
7-55221852-C-A c.889+7C>A - IntronicSNV - 7/27 2
7-55221852-C-T c.889+7C>T - IntronicSNV - 7/27 1
7-55221853-C-T c.889+8C>T - IntronicSNV - 7/27 1
7-55221855-C-T c.889+10C>T - IntronicSNV - 7/27 1
7-55221859-T-C c.889+14T>C - IntronicSNV - 7/27 1
7-55221860-G-A c.889+15G>A - IntronicSNV - 7/27 1
7-55221863-G-T c.889+18G>T - IntronicSNV - 7/27 3
7-55221879-A-G c.889+34A>G - IntronicSNV - 7/27 1
7-55221883-A-G c.889+38A>G - IntronicSNV - 7/27 1
7-55221893-C-T c.889+48C>T - IntronicSNV - 7/27 1
7-55221898-T-C c.889+53T>C - IntronicSNV - 7/27 1
7-55221991-G-T c.889+146G>T - IntronicSNV - 7/27 1
7-55222755-G-A c.890-768G>A - IntronicSNV - 7/27 2
7-55222954-G-A c.890-569G>A - IntronicSNV - 7/27 2
7-55223176-G-A c.890-347G>A - IntronicSNV - 7/27 7
7-55223358-G-C c.890-165G>C - IntronicSNV - 7/27 1
7-55223378-C-A c.890-145C>A - IntronicSNV - 7/27 1
7-55223378-C-T c.890-145C>T - IntronicSNV - 7/27 1
7-55223489-C-T c.890-34C>T - IntronicSNV - 7/27 1
7