MSH2

MSH2 mutS homolog 2

Annotation transcript: NM_000251.3

17914 unique variant annotations were identified in 2834 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
2-47630302-C-T c.-29C>T - 5-UTRSNV 1/16 - 2
2-47630307-A-G c.-24A>G - 5-UTRSNV 1/16 - 1
2-47630322-G-A c.-9G>A - 5-UTRSNV 1/16 - 1
2-47630322-G-C c.-9G>C - 5-UTRSNV 1/16 - 1
2-47630328-G-C c.-3G>C - 5-UTRSNV 1/16 - 1
2-47630331-CATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCGT-C c.1_59del p.M1_?20 Multi:SpliceDonorDeletion,CdsStartDeletion 1/16 - 3
2-47630331-A-G c.1A>G p.M1? Missense 1/16 - 17
2-47630331-A-T c.1A>T p.M1? Missense 1/16 - 12
2-47630331-A-C c.1A>C p.M1? Missense 1/16 - 13
2-47630332-T-G c.2T>G p.M1? Missense 1/16 - 2
2-47630332-T-A c.2T>A p.M1? Missense 1/16 - 1
2-47630332-T-C c.2T>C p.M1? Missense 1/16 - 2
2-47630333-G-T c.3G>T p.M1? Missense 1/16 - 1
2-47630334-G-A c.4G>A p.A2T Missense 1/16 - 13
2-47630334-G-C c.4G>C p.A2P Missense 1/16 - 1
2-47630334-G-T c.4G>T p.A2S Missense 1/16 - 1
2-47630335-C-T c.5C>T p.A2V Missense 1/16 - 9
2-47630335-C-A c.5C>A p.A2E Missense 1/16 - 4
2-47630335-C-G c.5C>G p.A2G Missense 1/16 - 1
2-47630336-G-T c.6G>T p.A2= Synonymous 1/16 - 3
2-47630336-G-C c.6G>C p.A2= Synonymous 1/16 - 1
2-47630337-G-A c.7G>A p.V3M Missense 1/16 - 5
2-47630337-G-T c.7G>T p.V3L Missense 1/16 - 5
2-47630337-G-C c.7G>C p.V3L Missense 1/16 - 1
2-47630338-T-C c.8T>C p.V3A Missense 1/16 - 1
2-47630338-T-G c.8T>G p.V3G Missense 1/16 - 1
2-47630339-G-A c.9G>A p.V3= Synonymous 1/16 - 1
2-47630339-G-C c.9G>C p.V3= Synonymous 1/16 - 1
2-47630339-G-T c.9G>T p.V3= Synonymous 1/16 - 1
2-47630340-C-A c.10C>A p.Q4K Missense 1/16 - 3
2-47630340-C-T c.10C>T p.Q4* Nonsense 1/16 - 5
2-47630341-A-T c.11A>T p.Q4L Missense 1/16 - 5
2-47630341-A-C c.11A>C p.Q4P Missense 1/16 - 3
2-47630341-A-G c.11A>G p.Q4R Missense 1/16 - 1
2-47630341-AG-CC c.11_12delinsCC p.Q4P Missense 1/16 - 1
2-47630340-C-CA c.11dup p.P5Afs*77 Frameshift 1/16 - 3
2-47630342-G-T c.12G>T p.Q4H Missense 1/16 - 2
2-47630342-G-C c.12G>C p.Q4H Missense 1/16 - 1
2-47630343-C-A c.13C>A p.P5T Missense 1/16 - 1
2-47630343-C-G c.13C>G p.P5A Missense 1/16 - 1
2-47630343-C-T c.13C>T p.P5S Missense 1/16 - 1
2-47630344-C-A c.14C>A p.P5Q Missense 1/16 - 29
2-47630344-CG-AT c.14_15delinsAT p.P5H Missense 1/16 - 1
2-47630342-GC-G c.14del p.P5Rfs*59 Frameshift 1/16 - 1
2-47630344-C-T c.14C>T p.P5L Missense 1/16 - 4
2-47630344-C-G c.14C>G p.P5R Missense 1/16 - 3
2-47630346-A-G c.16A>G p.K6E Missense 1/16 - 4
2-47630346-A-C c.16A>C p.K6Q Missense 1/16 - 1
2-47630347-A-T c.17A>T p.K6M Missense 1/16 - 1
2-47630347-A-C c.17A>C p.K6T Missense 1/16 - 1
2-47630347-A-G c.17A>G p.K6R Missense 1/16 - 1
2-47630348-AGGAGACGCTGCAGTTGG-A c.18_34del p.T8Rfs*68 Frameshift 1/16 - 1
2-47630348-G-T c.18G>T p.K6N Missense 1/16 - 1
2-47630348-G-C c.18G>C p.K6N Missense 1/16 - 1
2-47630348-G-A c.18G>A p.K6= Synonymous 1/16 - 1
2-47630349-G-A c.19G>A p.E7K Missense 1/16 - 1
2-47630349-G-C c.19G>C p.E7Q Missense 1/16 - 2
2-47630350-A-T c.20A>T p.E7V Missense 1/16 - 2
2-47630350-GA-G c.20del p.E7Gfs*57 Frameshift 1/16 - 6
2-47630350-A-G c.20A>G p.E7G Missense 1/16 - 3
2-47630350-A-C c.20A>C p.E7A Missense 1/16 - 2
2-47630345-G-GAAGGAGGCAGTACAACCT c.21_22insGCAGTACAACCTAAGGAG p.A2_E7dup InFrameInsertion 1/16 - 2
2-47630350-A-AG c.21dup p.T8Dfs*74 Frameshift 1/16 - 3
2-47630351-G-C c.21G>C p.E7D Missense 1/16 - 1
2-47630351-G-T c.21G>T p.E7D Missense 1/16 - 1
2-47630352-A-T c.22A>T p.T8S Missense 1/16 - 4
2-47630352-A-C c.22A>C p.T8P Missense 1/16 - 1
2-47630352-A-G c.22A>G p.T8A Missense 1/16 - 3
2-47630353-C-G c.23C>G p.T8R Missense 1/16 - 5
2-47630353-C-T c.23C>T p.T8M Missense 1/16 - 37
2-47630353-C-A c.23C>A p.T8K Missense 1/16 - 1
2-47630355-C-A c.25C>A p.L9M Missense 1/16 - 1
2-47630355-C-G c.25C>G p.L9V Missense 1/16 - 1
2-47630356-T-A c.26T>A p.L9Q Missense 1/16 - 1
2-47630356-T-C c.26T>C p.L9P Missense 1/16 - 1
2-47630356-T-G c.26T>G p.L9R Missense 1/16 - 1
2-47630358-C-A c.28C>A p.Q10K Missense 1/16 - 3
2-47630358-C-G c.28C>G p.Q10E Missense 1/16 - 2
2-47630358-C-T c.28C>T p.Q10* Nonsense 1/16 - 7
2-47630358-CA-GC c.28_29delinsGC p.Q10A Missense 1/16 - 1
2-47630358-C-CA c.29dup p.L11Vfs*71 Frameshift 1/16 - 3
2-47630359-A-C c.29A>C p.Q10P Missense 1/16 - 1
2-47630359-A-G c.29A>G p.Q10R Missense 1/16 - 1
2-47630359-A-T c.29A>T p.Q10L Missense 1/16 - 1
2-47630360-G-A c.30G>A p.Q10= Synonymous 1/16 - 1
2-47630360-G-T c.30G>T p.Q10H Missense 1/16 - 3
2-47630360-G-C c.30G>C p.Q10H Missense 1/16 - 2
2-47630361-T-A c.31T>A p.L11M Missense 1/16 - 1
2-47630361-T-G c.31T>G p.L11V Missense 1/16 - 2
2-47630362-T-A c.32T>A p.L11* Nonsense 1/16 - 1
2-47630362-T-C c.32T>C p.L11S Missense 1/16 - 1
2-47630362-T-G c.32T>G p.L11W Missense 1/16 - 1
2-47630363-G-T c.33G>T p.L11F Missense 1/16 - 2
2-47630363-G-C c.33G>C p.L11F Missense 1/16 - 1
2-47630362-T-TG c.34dup p.E12Gfs*70 Frameshift 1/16 - 8
2-47630364-GAG-TTT c.34_36delinsTTT p.E12F Missense 1/16 - 1
2-47630364-GA-AG c.34_35delinsAG p.E12R Missense 1/16 - 1
2-47630364-G-A c.34G>A p.E12K Missense 1/16 - 3
2-47630364-G-C c.34G>C p.E12Q Missense 1/16 - 2
2-47630365-A-T c.35A>T p.E12V Missense 1/16 - 2
2-47630365-A-C c.35A>C p.E12A Missense 1/16 - 2
2-47630365-A-G c.35A>G p.E12G Missense 1/16 - 2
2-47630366-G-C c.36G>C p.E12D Missense 1/16 - 2
2-47630366-G-T c.36G>T p.E12D Missense 1/16 - 1
2-47630367-A-T c.37A>T p.S13C Missense 1/16 - 9
2-47630367-AG-GA c.37_38delinsGA p.S13D Missense 1/16 - 4
2-47630367-AG-GC c.37_38delinsGC p.S13A Missense 1/16 - 8
2-47630367-AGC-CAA c.37_39delinsCAA p.S13Q Missense 1/16 - 1
2-47630367-AG-CC c.37_38delinsCC p.S13P Missense 1/16 - 1
2-47630367-AG-CT c.37_38inv p.S13L Missense 1/16 - 1
2-47630367-A-G c.37A>G p.S13G Missense 1/16 - 2
2-47630367-AG-CA c.37_38delinsCA p.S13H Missense 1/16 - 1
2-47630367-AG-TT c.37_38delinsTT p.S13F Missense 1/16 - 1
2-47630367-AGC-GAG c.37_39delinsGAG p.S13E Missense 1/16 - 1
2-47630367-AG-TA c.37_38delinsTA p.S13Y Missense 1/16 - 1
2-47630367-AGC-TGG c.37_39delinsTGG p.S13W Missense 1/16 - 1
2-47630367-AG-GT c.37_38delinsGT p.S13V Missense 1/16 - 1
2-47630368-G-T c.38G>T p.S13I Missense 1/16 - 5
2-47630368-G-A c.38G>A p.S13N Missense 1/16 - 6
2-47630368-GC-TG c.38_39delinsTG p.S13M Missense 1/16 - 1
2-47630368-G-C c.38G>C p.S13T Missense 1/16 - 2
2-47630368-GC-AG c.38_39delinsAG p.S13K Missense 1/16 - 1
2-47630369-C-T c.39C>T p.S13= Synonymous 1/16 - 1
2-47630369-C-G c.39C>G p.S13R Missense 1/16 - 3
2-47630369-C-A c.39C>A p.S13R Missense 1/16 - 3
2-47630367-A-C c.37A>C p.S13R Missense 1/16 - 2
2-47630365-AGAGCGCGGCC-A c.39_48del p.S13Rfs*48 Frameshift 1/16 - 1
2-47630370-G-A c.40G>A p.A14T Missense 1/16 - 6
2-47630370-GCG-TGT c.40_42delinsTGT p.A14C Missense 1/16 - 2
2-47630370-GC-TG c.40_41delinsTG p.A14W Missense 1/16 - 3
2-47630370-GC-AT c.40_41delinsAT p.A14M Missense 1/16 - 2
2-47630370-GCG-TTT c.40_42delinsTTT p.A14F Missense 1/16 - 1
2-47630370-GCG-TAT c.40_42delinsTAT p.A14Y Missense 1/16 - 1
2-47630370-G-T c.40G>T p.A14S Missense 1/16 - 3
2-47630370-GCG-ATC c.40_42delinsATC p.A14I Missense 1/16 - 1
2-47630370-GC-AA c.40_41delinsAA p.A14K Missense 1/16 - 1
2-47630370-GC-CT c.40_41delinsCT p.A14L Missense 1/16 - 1
2-47630370-GC-AG c.40_41delinsAG p.A14R Missense 1/16 - 1
2-47630370-GCG-CAT c.40_42delinsCAT p.A14H Missense 1/16 - 1
2-47630370-GC-CA c.40_41delinsCA p.A14Q Missense 1/16 - 1
2-47630370-G-C c.40G>C p.A14P Missense 1/16 - 4
2-47630370-GCG-AAC c.40_42delinsAAC p.A14N Missense 1/16 - 3
2-47630371-C-G c.41C>G p.A14G Missense 1/16 - 2
2-47630371-C-T c.41C>T p.A14V Missense 1/16 - 3
2-47630371-C-A c.41C>A p.A14E Missense 1/16 - 2
2-47630371-CG-AC c.41_42delinsAC p.A14D Missense 1/16 - 1
2-47630372-G-A c.42G>A p.A14= Synonymous 1/16 - 2
2-47630372-G-C c.42G>C p.A14= Synonymous 1/16 - 1
2-47630372-G-T c.42G>T p.A14= Synonymous 1/16 - 1
2-47630373-GC-CG c.43_44delinsCG p.A15R Missense 1/16 - 2
2-47630373-G-T c.43G>T p.A15S Missense 1/16 - 4
2-47630371-CG-C c.43del p.A15Pfs*49 Frameshift 1/16 - 1
2-47630373-GC-CT c.43_44delinsCT p.A15L Missense 1/16 - 1
2-47630373-GCC-AAG c.43_45delinsAAG p.A15K Missense 1/16 - 2
2-47630373-GC-AT c.43_44delinsAT p.A15I Missense 1/16 - 1
2-47630373-GC-CA c.43_44delinsCA p.A15H Missense 1/16 - 2
2-47630373-GC-TT c.43_44delinsTT p.A15F Missense 1/16 - 1
2-47630373-GC-TG c.43_44delinsTG p.A15C Missense 1/16 - 1
2-47630373-G-C c.43G>C p.A15P Missense 1/16 - 2
2-47630373-GC-AA c.43_44delinsAA p.A15N Missense 1/16 - 1
2-47630373-GCC-ATG c.43_45delinsATG p.A15M Missense 1/16 - 2
2-47630373-GC-TA c.43_44delinsTA p.A15Y Missense 1/16 - 1
2-47630373-GCC-TGG c.43_45delinsTGG p.A15W Missense 1/16 - 2
2-47630373-GCC-CAA c.43_45delinsCAA p.A15Q Missense 1/16 - 1
2-47630373-G-A c.43G>A p.A15T Missense 1/16 - 3
2-47630373-GCC-TAA c.43_45delinsTAA p.A15* Nonsense 1/16 - 1
2-47630374-C-G c.44C>G p.A15G Missense 1/16 - 5
2-47630374-C-A c.44C>A p.A15D Missense 1/16 - 4
2-47630374-CC-AG c.44_45delinsAG p.A15E Missense 1/16 - 6
2-47630374-C-T c.44C>T p.A15V Missense 1/16 - 2
2-47630375-C-A c.45C>A p.A15= Synonymous 1/16 - 1
2-47630375-C-G c.45C>G p.A15= Synonymous 1/16 - 1
2-47630375-C-T c.45C>T p.A15= Synonymous 1/16 - 1
2-47630376-G-A c.46G>A p.E16K Missense 1/16 - 3
2-47630376-GA-CT c.46_47delinsCT p.E16L Missense 1/16 - 1
2-47630376-GA-AG c.46_47delinsAG p.E16R Missense 1/16 - 1
2-47630376-GAG-TTT c.46_48delinsTTT p.E16F Missense 1/16 - 1
2-47630376-GAG-TAT c.46_48delinsTAT p.E16Y Missense 1/16 - 1
2-47630376-GAG-TGT c.46_48delinsTGT p.E16C Missense 1/16 - 1
2-47630376-GA-TG c.46_47delinsTG p.E16W Missense 1/16 - 1
2-47630376-GA-AC c.46_47delinsAC p.E16T Missense 1/16 - 1
2-47630376-GA-TC c.46_47inv p.E16S Missense 1/16 - 1
2-47630376-G-C c.46G>C p.E16Q Missense 1/16 - 2
2-47630376-GA-CC c.46_47delinsCC p.E16P Missense 1/16 - 1
2-47630376-GA-AT c.46_47delinsAT p.E16M Missense 1/16 - 1
2-47630376-GAG-CAT c.46_48delinsCAT p.E16H Missense 1/16 - 1
2-47630376-GAG-AAC c.46_48delinsAAC p.E16N Missense 1/16 - 1
2-47630376-GAG-ATC c.46_48delinsATC p.E16I Missense 1/16 - 1
2-47630377-A-G c.47A>G p.E16G Missense 1/16 - 2
2-47630377-A-T c.47A>T p.E16V Missense 1/16 - 2
2-47630377-A-C c.47A>C p.E16A Missense 1/16 - 3
2-47630378-G-C c.48G>C p.E16D Missense 1/16 - 3
2-47630378-G-T c.48G>T p.E16D Missense 1/16 - 2
2-47630378-AGGTCGGCTTCGTGCGCTTCTT-A c.48_68del p.E16_F23delinsD MultiAAMissense 1/16 - 1
2-47630379-G-T c.49G>T p.V17F Missense 1/16 - 7
2-47630379-G-A c.49G>A p.V17I Missense 1/16 - 5
2-47630379-GT-TG c.49_50delinsTG p.V17C Missense 1/16 - 1
2-47630379-GT-CG c.49_50delinsCG p.V17R Missense 1/16 - 1
2-47630379-GT-TA c.49_50delinsTA p.V17Y Missense 1/16 - 1
2-47630379-GTC-TGG c.49_51delinsTGG p.V17W Missense 1/16 - 1
2-47630379-GT-AA c.49_50delinsAA p.V17N Missense 1/16 - 1
2-47630379-GT-AG c.49_50delinsAG p.V17S Missense 1/16 - 1
2-47630379-GT-AC c.49_50inv p.V17T Missense 1/16 - 1
2-47630379-GTC-AAG c.49_51delinsAAG p.V17K Missense 1/16 - 1
2-47630379-GT-CC c.49_50delinsCC p.V17P Missense 1/16 - 1
2-47630379-GTC-CAA c.49_51delinsCAA p.V17Q Missense 1/16 - 1
2-47630379-GT-CA c.49_50delinsCA p.V17H Missense 1/16 - 1
2-47630379-GTC-ATG c.49_51delinsATG p.V17M Missense 1/16 - 1
2-47630379-G-C c.49G>C p.V17L Missense 1/16 - 3
2-47630380-T-G c.50T>G p.V17G Missense 1/16 - 3
2-47630380-T-C c.50T>C p.V17A Missense 1/16 - 3
2-47630380-TC-AG c.50_51delinsAG p.V17E Missense 1/16 - 1
2-47630380-T-A c.50T>A p.V17D Missense 1/16 - 2
2-47630382-G-A c.52G>A p.G18S Missense 1/16 - 5
2-47630382-GG-TA c.52_53delinsTA p.G18Y Missense 1/16 - 1
2-47630382-GGC-TGG c.52_54delinsTGG p.G18W Missense 1/16 - 1
2-47630382-GG-AC c.52_53delinsAC p.G18T Missense 1/16 - 1
2-47630382-GGC-CAA c.52_54delinsCAA p.G18Q Missense 1/16 - 1
2-47630382-GG-CA c.52_53delinsCA p.G18H Missense 1/16 - 1
2-47630382-GG-AT c.52_53delinsAT p.G18I Missense 1/16 - 1
2-47630382-GG-CT c.52_53delinsCT p.G18L Missense 1/16 - 1
2-47630382-GG-TT c.52_53delinsTT p.G18F Missense 1/16 - 1
2-47630382-G-T c.52G>T p.G18C Missense 1/16 - 3
2-47630382-G-C c.52G>C p.G18R Missense 1/16 - 3
2-47630382-GG-AA c.52_53delinsAA p.G18N Missense 1/16 - 1
2-47630382-GGC-ATG c.52_54delinsATG p.G18M Missense 1/16 - 1
2-47630382-GG-CC c.52_53inv p.G18P Missense 1/16 - 1
2-47630382-GGC-AAG c.52_54delinsAAG p.G18K Missense 1/16 - 1
2-47630383-G-T c.53G>T p.G18V Missense 1/16 - 2
2-47630383-G-A c.53G>A p.G18D Missense 1/16 - 3
2-47630383-GC-AG c.53_54delinsAG p.G18E Missense 1/16 - 1
2-47630383-G-C c.53G>C p.G18A Missense 1/16 - 2
2-47630384-C-G c.54C>G p.G18= Synonymous 1/16 - 1
2-47630384-C-T c.54C>T p.G18= Synonymous 1/16 - 1
2-47630385-T-C c.55T>C p.F19L Missense 1/16 - 11
2-47630387-C-A c.57C>A p.F19L Missense 1/16 - 3
2-47630387-C-G c.57C>G p.F19L Missense 1/16 - 3
2-47630385-T-A c.55T>A p.F19I Missense 1/16 - 2
2-47630385-TTC-AAG c.55_57delinsAAG p.F19K Missense 1/16 - 1
2-47630385-TTC-ATG c.55_57delinsATG p.F19M Missense 1/16 - 1
2-47630385-TT-AA c.55_56inv p.F19N Missense 1/16 - 1
2-47630385-T-G c.55T>G p.F19V Missense 1/16 - 3
2-47630385-TT-AC c.55_56delinsAC p.F19T Missense 1/16 - 1
2-47630385-TT-CG c.55_56delinsCG p.F19R Missense 1/16 - 1
2-47630385-TTC-CAA c.55_57delinsCAA p.F19Q Missense 1/16 - 1
2-47630385-TT-CC c.55_56delinsCC p.F19P Missense 1/16 - 1
2-47630385-TT-GG c.55_56delinsGG p.F19G Missense 1/16 - 1
2-47630385-TTC-GAG c.55_57delinsGAG p.F19E Missense 1/16 - 1
2-47630385-TT-GA c.55_56delinsGA p.F19D Missense 1/16 - 1
2-47630385-TT-CA c.55_56delinsCA p.F19H Missense 1/16 - 1
2-47630385-TT-GC c.55_56delinsGC p.F19A Missense 1/16 - 1
2-47630386-T-G c.56T>G p.F19C Missense 1/16 - 3
2-47630386-T-A c.56T>A p.F19Y Missense 1/16 - 2
2-47630386-TC-GG c.56_57delinsGG p.F19W Missense 1/16 - 1
2-47630386-T-C c.56T>C p.F19S Missense 1/16 - 3
2-47630387-C-T c.57C>T p.F19= Synonymous 1/16 - 2
2-47630388-GT-CC c.58_59delinsCC p.V20P Missense 1/16 - 1
2-47630388-GTG-AAC c.58_60delinsAAC p.V20N Missense 1/16 - 1
2-47630388-G-A c.58G>A p.V20M Missense 1/16 - 4
2-47630388-G-T c.58G>T p.V20L Missense 1/16 - 3
2-47630388-GT-AA c.58_59delinsAA p.V20K Missense 1/16 - 1
2-47630388-GTG-ATC c.58_60delinsATC p.V20I Missense 1/16 - 1
2-47630388-GTG-CAT c.58_60delinsCAT p.V20H Missense 1/16 - 1
2-47630388-GTG-TTT c.58_60delinsTTT p.V20F Missense 1/16 - 1
2-47630388-GTG-TAT c.58_60delinsTAT p.V20Y Missense 1/16 - 1
2-47630388-GT-TG c.58_59delinsTG p.V20W Missense 1/16 - 1
2-47630388-GTG-TGT c.58_60delinsTGT p.V20C Missense 1/16 - 1
2-47630388-GT-AC c.58_59inv p.V20T Missense 1/16 - 1
2-47630388-GT-TC c.58_59delinsTC p.V20S Missense 1/16 - 1
2-47630388-GT-AG c.58_59delinsAG p.V20R Missense 1/16 - 1
2-47630388-GT-CA c.58_59delinsCA p.V20Q Missense 1/16 - 1
2-47630384-CTTCGTGCGCTTCT-C c.58_70del p.V20Rfs*40 Frameshift 1/16 - 1
2-47630388-G-C c.58G>C p.V20L Missense 1/16 - 1
2-47630389-T-G c.59T>G p.V20G Missense 1/16 - 2
2-47630389-T-A c.59T>A p.V20E Missense 1/16 - 2
2-47630389-TG-AC c.59_60delinsAC p.V20D Missense 1/16 - 1
2-47630389-T-C c.59T>C p.V20A Missense 1/16 - 2
2-47630391-C-T c.61C>T p.R21C Missense 1/16 - 4
2-47630391-CGC-AAG c.61_63delinsAAG p.R21K Missense 1/16 - 1
2-47630391-CG-GA c.61_62delinsGA p.R21D Missense 1/16 - 1
2-47630391-CG-GC c.61_62delinsGC p.R21A Missense 1/16 - 2
2-47630391-CGC-GAG c.61_63delinsGAG p.R21E Missense 1/16 - 1
2-47630391-CGC-ATG c.61_63delinsATG p.R21M Missense 1/16 - 1
2-47630391-CG-TT c.61_62delinsTT p.R21F Missense 1/16 - 1
2-47630391-CG-AT c.61_62delinsAT p.R21I Missense 1/16 - 1
2-47630391-C-G c.61C>G p.R21G Missense 1/16 - 3
2-47630391-CG-AA c.61_62delinsAA p.R21N Missense 1/16 - 1
2-47630391-C-A c.61C>A p.R21S Missense 1/16 - 3
2-47630391-CG-TA c.61_62delinsTA p.R21Y Missense 1/16 - 1
2-47630391-CG-AC c.61_62delinsAC p.R21T Missense 1/16 - 1
2-47630391-CGC-TGG c.61_63delinsTGG p.R21W Missense 1/16 - 1
2-47630391-CG-GT c.61_62delinsGT p.R21V Missense 1/16 - 1
2-47630392-G-T c.62G>T p.R21L Missense 1/16 - 4
2-47630392-G-A c.62G>A p.R21H Missense 1/16 - 4
2-47630392-GC-AA c.62_63delinsAA p.R21Q Missense 1/16 - 1
2-47630392-G-C c.62G>C p.R21P Missense 1/16 - 2
2-47630389-TGCGCTTCTTTCAGG-T c.62_75del p.R21Hfs*56 Frameshift 1/16 - 1
2-47630392-GC-TT c.62_63delinsTT p.R21L Missense 1/16 - 1
2-47630394-T-C c.64T>C p.F22L Missense 1/16 - 5
2-47630394-TT-GG c.64_65delinsGG p.F22G Missense 1/16 - 1
2-47630394-TT-AA c.64_65inv p.F22N Missense 1/16 - 1
2-47630394-T-A c.64T>A p.F22I Missense 1/16 - 3
2-47630394-TT-CA c.64_65delinsCA p.F22H Missense 1/16 - 1
2-47630396-C-A c.66C>A p.F22L Missense 1/16 - 2
2-47630396-C-G c.66C>G p.F22L Missense 1/16 - 3
2-47630394-TTC-AAG c.64_66delinsAAG p.F22K Missense 1/16 - 1
2-47630394-TT-GA c.64_65delinsGA p.F22D Missense 1/16 - 2
2-47630394-TT-GC c.64_65delinsGC p.F22A Missense 1/16 - 1
2-47630394-T-G c.64T>G p.F22V Missense 1/16 - 2
2-47630394-TT-AC c.64_65delinsAC p.F22T Missense 1/16 - 1
2-47630394-TT-CC c.64_65delinsCC p.F22P Missense 1/16 - 1
2-47630394-TTC-CAA c.64_66delinsCAA p.F22Q Missense 1/16 - 1
2-47630394-TTC-GAG c.64_66delinsGAG p.F22E Missense 1/16 - 1
2-47630394-TTC-ATG c.64_66delinsATG p.F22M Missense 1/16 - 1
2-47630394-TT-CG c.64_65delinsCG p.F22R Missense 1/16 - 1
2-47630395-TC-GG c.65_66delinsGG p.F22W Missense 1/16 - 1
2-47630395-T-A c.65T>A p.F22Y Missense 1/16 - 2
2-47630395-T-C c.65T>C p.F22S Missense 1/16 - 2
2-47630395-T-G c.65T>G p.F22C Missense 1/16 - 2
2-47630396-C-T c.66C>T p.F22= Synonymous 1/16 - 1
2-47630397-T-C c.67T>C p.F23L Missense 1/16 - 15
2-47630399-T-A c.69T>A p.F23L Missense 1/16 - 8
2-47630399-T-G c.69T>G p.F23L Missense 1/16 - 8
2-47630397-TT-AA c.67_68inv p.F23N Missense 1/16 - 1
2-47630397-TT-GG c.67_68delinsGG p.F23G Missense 1/16 - 1
2-47630397-T-G c.67T>G p.F23V Missense 1/16 - 3
2-47630397-TT-AC c.67_68delinsAC p.F23T Missense 1/16 - 1
2-47630397-TT-CG c.67_68delinsCG p.F23R Missense 1/16 - 1
2-47630397-TTT-CAA c.67_69delinsCAA p.F23Q Missense 1/16 - 1
2-47630397-TT-CC c.67_68delinsCC p.F23P Missense 1/16 - 1
2-47630397-TT-GC c.67_68delinsGC p.F23A Missense 1/16 - 1
2-47630397-TT-CA c.67_68delinsCA p.F23H Missense 1/16 - 1
2-47630397-TTT-AAG c.67_69delinsAAG p.F23K Missense 1/16 - 1
2-47630397-TT-GA c.67_68delinsGA p.F23D Missense 1/16 - 1
2-47630397-TTT-GAG c.67_69delinsGAG p.F23E Missense 1/16 - 2
2-47630397-T-A c.67T>A p.F23I Missense 1/16 - 2
2-47630397-TTT-ATG c.67_69delinsATG p.F23M Missense 1/16 - 1
2-47630393-CTTCT-C c.67_70del p.F23Rfs*40 Frameshift 1/16 - 1
2-47630398-T-C c.68T>C p.F23S Missense 1/16 - 4
2-47630398-T-A c.68T>A p.F23Y Missense 1/16 - 2
2-47630398-TT-GG c.68_69delinsGG p.F23W Missense 1/16 - 1
2-47630398-T-G c.68T>G p.F23C Missense 1/16 - 2
2-47630396-C-CT c.69dup p.Q24Sfs*58 Frameshift 1/16 - 1
2-47630399-T-C c.69T>C p.F23= Synonymous 1/16 - 2
2-47630400-C-G c.70C>G p.Q24E Missense 1/16 - 6
2-47630400-C-T c.70C>T p.Q24* Nonsense 1/16 - 7
2-47630400-CA-TG c.70_71inv p.Q24W Missense 1/16 - 1
2-47630400-CA-GT c.70_71delinsGT p.Q24V Missense 1/16 - 1
2-47630400-CA-GC c.70_71delinsGC p.Q24A Missense 1/16 - 2
2-47630400-CA-AC c.70_71delinsAC p.Q24T Missense 1/16 - 1
2-47630400-CA-TC c.70_71delinsTC p.Q24S Missense 1/16 - 1
2-47630400-CAG-AAC c.70_72delinsAAC p.Q24N Missense 1/16 - 1
2-47630400-CA-AT c.70_71delinsAT p.Q24M Missense 1/16 - 1
2-47630400-C-A c.70C>A p.Q24K Missense 1/16 - 2
2-47630400-CAG-ATC c.70_72delinsATC p.Q24I Missense 1/16 - 1
2-47630400-CA-GG c.70_71delinsGG p.Q24G Missense 1/16 - 1
2-47630400-CAG-TGT c.70_72delinsTGT p.Q24C Missense 1/16 - 1
2-47630400-CAG-TAT c.70_72delinsTAT p.Q24Y Missense 1/16 - 1
2-47630400-CAG-TTT c.70_72delinsTTT p.Q24F Missense 1/16 - 1
2-47630400-CAG-GAC c.70_72delinsGAC p.Q24D Missense 1/16 - 1
2-47630401-CA-C c.71del p.Q24Rfs*40 Frameshift 1/16 - 2
2-47630401-A-G c.71A>G p.Q24R Missense 1/16 - 2
2-47630401-A-C c.71A>C p.Q24P Missense 1/16 - 2
2-47630401-A-T c.71A>T p.Q24L Missense 1/16 - 2
2-47630400-C-CA c.71dup p.M26Hfs*56 Frameshift 1/16 - 3
2-47630402-G-T c.72G>T p.Q24H Missense 1/16 - 4
2-47630402-G-C c.72G>C p.Q24H Missense 1/16 - 2
2-47630403-G-T c.73G>T p.G25C Missense 1/16 - 5
2-47630403-GG-AT c.73_74delinsAT p.G25I Missense 1/16 - 1
2-47630403-GG-CA c.73_74delinsCA p.G25H Missense 1/16 - 1
2-47630403-GG-TT c.73_74delinsTT p.G25F Missense 1/16 - 1
2-47630403-GGC-AAG c.73_75delinsAAG p.G25K Missense 1/16 - 1
2-47630403-GG-TA c.73_74delinsTA p.G25Y Missense 1/16 - 1
2-47630403-GGC-TGG c.73_75delinsTGG p.G25W Missense 1/16 - 1
2-47630403-GG-AC c.73_74delinsAC p.G25T Missense 1/16 - 1
2-47630403-G-A c.73G>A p.G25S Missense 1/16 - 2
2-47630403-G-C c.73G>C p.G25R Missense 1/16 - 2
2-47630403-GGC-CAA c.73_75delinsCAA p.G25Q Missense 1/16 - 1
2-47630403-GG-CC c.73_74inv p.G25P Missense 1/16 - 1
2-47630403-GG-AA c.73_74delinsAA p.G25N Missense 1/16 - 1
2-47630403-GGC-ATG c.73_75delinsATG p.G25M Missense 1/16 - 1
2-47630403-GG-CT c.73_74delinsCT p.G25L Missense 1/16 - 1
2-47630399-TCAGGGCATGCCGGAGAAGCCGACCACCA-T c.73_100del p.G25Cfs*30 Frameshift 1/16 - 1
2-47630403-G-GC c.73_74insC p.G25Afs*57 Frameshift 1/16 - 3
2-47630404-G-A c.74G>A p.G25D Missense 1/16 - 11
2-47630404-G-C c.74G>C p.G25A Missense 1/16 - 3
2-47630404-G-T c.74G>T p.G25V Missense 1/16 - 3
2-47630404-GC-AG c.74_75delinsAG p.G25E Missense 1/16 - 1
2-47630405-GCAT-G c.75_77del p.M26del InFrameDeletion 1/16 - 1
2-47630405-GC-G c.75del p.M26Cfs*38 Frameshift 1/16 - 1
2-47630406-A-C c.76A>C p.M26L Missense 1/16 - 6
2-47630406-A-T c.76A>T p.M26L Missense 1/16 - 3
2-47630406-A-G c.76A>G p.M26V Missense 1/16 - 4
2-47630406-CATG-C c.76_78del p.M26del InFrameDeletion 1/16 - 1
2-47630406-AT-GG c.76_77delinsGG p.M26G Missense 1/16 - 1
2-47630406-ATG-TTT c.76_78delinsTTT p.M26F Missense 1/16 - 1
2-47630406-AT-GA c.76_77delinsGA p.M26E Missense 1/16 - 1
2-47630406-ATG-GAC c.76_78delinsGAC p.M26D Missense 1/16 - 1
2-47630406-ATG-TGT c.76_78delinsTGT p.M26C Missense 1/16 - 2
2-47630406-AT-GC c.76_77delinsGC p.M26A Missense 1/16 - 1
2-47630406-ATG-TAT c.76_78delinsTAT p.M26Y Missense 1/16 - 1
2-47630406-AT-TG c.76_77delinsTG p.M26W Missense 1/16 - 1
2-47630406-AT-CA c.76_77delinsCA p.M26Q Missense 1/16 - 1
2-47630406-ATG-CAT c.76_78inv p.M26H Missense 1/16 - 2
2-47630406-AT-CC c.76_77delinsCC p.M26P Missense 1/16 - 1
2-47630407-T-C c.77T>C p.M26T Missense 1/16 - 3
2-47630407-TG-AC c.77_78delinsAC p.M26N Missense 1/16 - 1
2-47630407-T-G c.77T>G p.M26R Missense 1/16 - 3
2-47630407-TG-GC c.77_78delinsGC p.M26S Missense 1/16 - 1
2-47630407-T-A c.77T>A p.M26K Missense 1/16 - 2
2-47630408-G-C c.78G>C p.M26I Missense 1/16 - 2
2-47630408-G-A c.78G>A p.M26I Missense 1/16 - 2
2-47630408-G-T c.78G>T p.M26I Missense 1/16 - 2
2-47630409-C-G c.79C>G p.P27A Missense 1/16 - 4
2-47630409-CCG-TTT c.79_81delinsTTT p.P27F Missense 1/16 - 1
2-47630409-CCG-TGT c.79_81delinsTGT p.P27C Missense 1/16 - 1
2-47630409-CC-GG c.79_80inv p.P27G Missense 1/16 - 1
2-47630409-CC-AT c.79_80delinsAT p.P27M Missense 1/16 - 1
2-47630409-CC-GA c.79_80delinsGA p.P27E Missense 1/16 - 1
2-47630409-CC-AA c.79_80delinsAA p.P27K Missense 1/16 - 1
2-47630409-CCG-GAC c.79_81delinsGAC p.P27D Missense 1/16 - 1
2-47630409-CCG-ATC c.79_81delinsATC p.P27I Missense 1/16 - 1
2-47630409-CCG-TAT c.79_81delinsTAT p.P27Y Missense 1/16 - 1
2-47630409-CCG-AAC c.79_81delinsAAC p.P27N Missense 1/16 - 1
2-47630409-C-T c.79C>T p.P27S Missense 1/16 - 3
2-47630409-CC-TG c.79_80delinsTG p.P27W Missense 1/16 - 1
2-47630409-CC-GT c.79_80delinsGT p.P27V Missense 1/16 - 1
2-47630409-C-A c.79C>A p.P27T Missense 1/16 - 3
2-47630409-CC-TA c.79_80delinsTA p.P27* Nonsense 1/16 - 1
2-47630410-C-T c.80C>T p.P27L Missense 1/16 - 11
2-47630410-CG-AT c.80_81delinsAT p.P27H Missense 1/16 - 1
2-47630410-C-A c.80C>A p.P27Q Missense 1/16 - 2
2-47630410-C-G c.80C>G p.P27R Missense 1/16 - 6
2-47630411-G-T c.81G>T p.P27= Synonymous 1/16 - 1
2-47630410-CG-C c.82del p.E28Rfs*36 Frameshift 1/16 - 4
2-47630412-G-A c.82G>A p.E28K Missense 1/16 - 3
2-47630412-GA-TG c.82_83delinsTG p.E28W Missense 1/16 - 1
2-47630412-GA-AG c.82_83delinsAG p.E28R Missense 1/16 - 2
2-47630412-GA-TC c.82_83inv p.E28S Missense 1/16 - 1
2-47630412-GAG-TAT c.82_84delinsTAT p.E28Y Missense 1/16 - 1
2-47630412-GAG-AAC c.82_84delinsAAC p.E28N Missense 1/16 - 1
2-47630412-G-C c.82G>C p.E28Q Missense 1/16 - 2
2-47630412-GA-AC c.82_83delinsAC p.E28T Missense 1/16 - 1
2-47630412-GA-AT c.82_83delinsAT p.E28M Missense 1/16 - 1
2-47630412-GA-CC c.82_83delinsCC p.E28P Missense 1/16 - 1
2-47630412-GA-CT c.82_83delinsCT p.E28L Missense 1/16 - 1
2-47630412-GAG-TGT c.82_84delinsTGT p.E28C Missense 1/16 - 1
2-47630412-GAG-ATC c.82_84delinsATC p.E28I Missense 1/16 - 1
2-47630412-GAG-CAT c.82_84delinsCAT p.E28H Missense 1/16 - 1
2-47630412-GAG-TTT c.82_84delinsTTT p.E28F Missense 1/16 - 1
2-47630412-G-T c.82G>T p.E28* Nonsense 1/16 - 4
2-47630413-A-G c.83A>G p.E28G Missense 1/16 - 4
2-47630413-A-T c.83A>T p.E28V Missense 1/16 - 4
2-47630413-A-C c.83A>C p.E28A Missense 1/16 - 3
2-47630414-G-A c.84G>A p.E28= Synonymous 1/16 - 1
2-47630414-G-C c.84G>C p.E28D Missense 1/16 - 3
2-47630414-G-T c.84G>T p.E28D Missense 1/16 - 3
2-47630415-A-T c.85A>T p.K29* Nonsense 1/16 - 3
2-47630415-AAG-TAT c.85_87delinsTAT p.K29Y Missense 1/16 - 1
2-47630415-AA-TG c.85_86delinsTG p.K29W Missense 1/16 - 1
2-47630415-AA-CC c.85_86delinsCC p.K29P Missense 1/16 - 1
2-47630415-AA-CT c.85_86delinsCT p.K29L Missense 1/16 - 1
2-47630415-AA-GG c.85_86delinsGG p.K29G Missense 1/16 - 1
2-47630415-AA-GT c.85_86delinsGT p.K29V Missense 1/16 - 1
2-47630415-AAG-CAT c.85_87delinsCAT p.K29H Missense 1/16 - 1
2-47630415-A-G c.85A>G p.K29E Missense 1/16 - 3
2-47630415-AAG-TGT c.85_87delinsTGT p.K29C Missense 1/16 - 1
2-47630415-AAG-GAC c.85_87delinsGAC p.K29D Missense 1/16 - 1
2-47630415-AAG-TTT c.85_87delinsTTT p.K29F Missense 1/16 - 1
2-47630415-AA-GC c.85_86delinsGC p.K29A Missense 1/16 - 2
2-47630415-A-C c.85A>C p.K29Q Missense 1/16 - 2
2-47630414-GA-G c.86del p.K29Sfs*35 Frameshift 1/16 - 1
2-47630416-A-T c.86A>T p.K29M Missense 1/16 - 2
2-47630416-AG-TC c.86_87delinsTC p.K29I Missense 1/16 - 1
2-47630416-A-C c.86A>C p.K29T Missense 1/16 - 3
2-47630416-AG-GC c.86_87delinsGC p.K29S Missense 1/16 - 1
2-47630416-A-G c.86A>G p.K29R Missense 1/16 - 3
2-47630417-AGCCGACC-A c.87_93del p.T31Qfs*31 Frameshift 1/16 - 1
2-47630417-G-C c.87G>C p.K29N Missense 1/16 - 3
2-47630417-G-T c.87G>T p.K29N Missense 1/16 - 3
2-47630417-AGCCG-A c.87_90del p.T31Pfs*32 Frameshift 1/16 - 1
2-47630418-C-G c.88C>G p.P30A Missense 1/16 - 2
2-47630418-CCG-TAT c.88_90delinsTAT p.P30Y Missense 1/16 - 1
2-47630418-CC-TG c.88_89delinsTG p.P30W Missense 1/16 - 1
2-47630418-CC-GT c.88_89delinsGT p.P30V Missense 1/16 - 1
2-47630418-C-A c.88C>A p.P30T Missense 1/16 - 3
2-47630418-C-T c.88C>T p.P30S Missense 1/16 - 5
2-47630418-CCG-TGT c.88_90delinsTGT p.P30C Missense 1/16 - 1
2-47630418-CCG-GAC c.88_90delinsGAC p.P30D Missense 1/16 - 1
2-47630418-CC-GA c.88_89delinsGA p.P30E Missense 1/16 - 1
2-47630418-CCG-TTT c.88_90delinsTTT p.P30F Missense 1/16 - 1
2-47630418-CCG-AAC c.88_90delinsAAC p.P30N Missense 1/16 - 1
2-47630418-CC-AT c.88_89delinsAT p.P30M Missense 1/16 - 1
2-47630418-CC-AA c.88_89delinsAA p.P30K Missense 1/16 - 1
2-47630418-CCG-ATC c.88_90delinsATC p.P30I Missense 1/16 - 1
2-47630418-CC-GG c.88_89inv p.P30G Missense 1/16 - 1
2-47630419-C-G c.89C>G p.P30R Missense 1/16 - 3
2-47630419-C-A c.89C>A p.P30Q Missense 1/16 - 1
2-47630419-C-T c.89C>T p.P30L Missense 1/16 - 5
2-47630419-CG-AT c.89_90delinsAT p.P30H Missense 1/16 - 1
2-47630421-AC-CA c.91_92delinsCA p.T31H Missense 1/16 - 1
2-47630421-AC-GG c.91_92delinsGG p.T31G Missense 1/16 - 2
2-47630421-AC-TT c.91_92delinsTT p.T31F Missense 1/16 - 1
2-47630421-ACC-GAG c.91_93delinsGAG p.T31E Missense 1/16 - 1
2-47630421-AC-GA c.91_92delinsGA p.T31D Missense 1/16 - 1
2-47630421-AC-TG c.91_92delinsTG p.T31C Missense 1/16 - 1
2-47630421-A-G c.91A>G p.T31A Missense 1/16 - 3
2-47630421-AC-CT c.91_92delinsCT p.T31L Missense 1/16 - 1
2-47630421-ACC-CAA c.91_93delinsCAA p.T31Q Missense 1/16 - 1
2-47630421-A-C c.91A>C p.T31P Missense 1/16 - 3
2-47630421-ACC-TGG c.91_93delinsTGG p.T31W Missense 1/16 - 1
2-47630421-AC-TA c.91_92delinsTA p.T31Y Missense 1/16 - 1
2-47630421-AC-GT c.91_92inv p.T31V Missense 1/16 - 1
2-47630421-A-AG c.91_92insG p.T31Sfs*51 Frameshift 1/16 - 1
2-47630422-C-T c.92C>T p.T31I Missense 1/16 - 4
2-47630422-C-A c.92C>A p.T31N Missense 1/16 - 2
2-47630422-CC-TG c.92_93delinsTG p.T31M Missense 1/16 - 1
2-47630422-CC-AG c.92_93delinsAG p.T31K Missense 1/16 - 1
2-47630422-C-G c.92C>G p.T31S Missense 1/16 - 6
2-47630421-A-T c.91A>T p.T31S Missense 1/16 - 4
2-47630422-CC-GG c.92_93inv p.T31R Missense 1/16 - 1
2-47630423-C-T c.93C>T p.T31= Synonymous 1/16 - 1
2-47630424-A-G c.94A>G p.T32A Missense 1/16 - 4
2-47630424-ACC-GAG c.94_96delinsGAG p.T32E Missense 1/16 - 1
2-47630424-AC-TG c.94_95delinsTG p.T32C Missense 1/16 - 1
2-47630424-AC-TA c.94_95delinsTA p.T32Y Missense 1/16 - 1
2-47630424-ACC-TGG c.94_96delinsTGG p.T32W Missense 1/16 - 1
2-47630424-AC-GT c.94_95inv p.T32V Missense 1/16 - 1
2-47630424-ACC-CAA c.94_96delinsCAA p.T32Q Missense 1/16 - 1
2-47630424-A-C c.94A>C p.T32P Missense 1/16 - 4
2-47630424-AC-GG c.94_95delinsGG p.T32G Missense 1/16 - 1
2-47630424-AC-GA c.94_95delinsGA p.T32D Missense 1/16 - 1
2-47630424-AC-TT c.94_95delinsTT p.T32F Missense 1/16 - 1
2-47630424-AC-CT c.94_95delinsCT p.T32L Missense 1/16 - 1
2-47630424-AC-CA c.94_95delinsCA p.T32H Missense 1/16 - 1
2-47630422-CCACCACAGTG-C c.94_103del p.T32Afs*29 Frameshift 1/16 - 3
2-47630425-C-G c.95C>G p.T32S Missense 1/16 - 5
2-47630424-A-T c.94A>T p.T32S Missense 1/16 - 4
2-47630425-CC-AG c.95_96delinsAG p.T32K Missense 1/16 - 1
2-47630425-C-A c.95C>A p.T32N Missense 1/16 - 4
2-47630425-C-T c.95C>T p.T32I Missense 1/16 - 2
2-47630425-CC-GG c.95_96inv p.T32R Missense 1/16 - 1
2-47630425-CC-TG c.95_96delinsTG p.T32M Missense 1/16 - 1
2-47630424-A-AC c.96dup p.T33Hfs*49 Frameshift 1/16 - 1
2-47630427-A-C c.97A>C p.T33P Missense 1/16 - 17
2-47630427-A-G c.97A>G p.T33A Missense 1/16 - 9
2-47630427-ACA-GAC c.97_99delinsGAC p.T33D Missense 1/16 - 1
2-47630427-ACA-TGT c.97_99inv p.T33C Missense 1/16 - 1
2-47630427-A-T c.97A>T p.T33S Missense 1/16 - 2
2-47630427-ACA-TAT c.97_99delinsTAT p.T33Y Missense 1/16 - 1
2-47630427-AC-GT c.97_98inv p.T33V Missense 1/16 - 1
2-47630427-ACA-TGG c.97_99delinsTGG p.T33W Missense 1/16 - 1
2-47630427-AC-GG c.97_98delinsGG p.T33G Missense 1/16 - 1
2-47630427-AC-CA c.97_98delinsCA p.T33Q Missense 1/16 - 1
2-47630427-ACA-CAT c.97_99delinsCAT p.T33H Missense 1/16 - 1
2-47630427-AC-CT c.97_98delinsCT p.T33L Missense 1/16 - 1
2-47630427-ACA-TTT c.97_99delinsTTT p.T33F Missense 1/16 - 1
2-47630427-AC-GA c.97_98delinsGA p.T33E Missense 1/16 - 1
2-47630428-CA-AC c.98_99delinsAC p.T33N Missense 1/16 - 2
2-47630428-C-A c.98C>A p.T33K Missense 1/16 - 2
2-47630428-C-G c.98C>G p.T33R Missense 1/16 - 2
2-47630428-CA-TG c.98_99inv p.T33M Missense 1/16 - 1
2-47630428-C-T c.98C>T p.T33I Missense 1/16 - 3
2-47630430-G-T c.100G>T p.V34L Missense 1/16 - 3
2-47630430-GTG-TTT c.100_102delinsTTT p.V34F Missense 1/16 - 1
2-47630430-G-C c.100G>C p.V34L Missense 1/16 - 3
2-47630430-GTG-TAT c.100_102delinsTAT p.V34Y Missense 1/16 - 1
2-47630430-GT-TG c.100_101delinsTG p.V34W Missense 1/16 - 1
2-47630430-GTG-TGT c.100_102delinsTGT p.V34C Missense 1/16 - 1
2-47630430-GT-AC c.100_101inv p.V34T Missense 1/16 - 1
2-47630430-GT-AG c.100_101delinsAG p.V34R Missense 1/16 - 1
2-47630430-GT-TC c.100_101delinsTC p.V34S Missense 1/16 - 1
2-47630430-GT-CA c.100_101delinsCA p.V34Q Missense 1/16 - 1
2-47630430-GTG-AAC c.100_102delinsAAC p.V34N Missense 1/16 - 1
2-47630430-GTG-CAT c.100_102delinsCAT p.V34H Missense 1/16 - 1
2-47630430-G-A c.100G>A p.V34M Missense 1/16 - 4
2-47630430-GT-CC c.100_101delinsCC p.V34P Missense 1/16 - 1
2-47630430-GTG-ATC c.100_102delinsATC p.V34I Missense 1/16 - 2
2-47630430-GT-AA c.100_101delinsAA p.V34K Missense 1/16 - 1
2-47630431-T-A c.101T>A p.V34E Missense 1/16 - 4
2-47630431-T-C c.101T>C p.V34A Missense 1/16 - 3
2-47630431-T-G c.101T>G p.V34G Missense 1/16 - 2
2-47630431-TG-AC c.101_102delinsAC p.V34D Missense 1/16 - 1
2-47630433-C-G c.103C>G p.R35G Missense 1/16 - 6
2-47630433-CG-AT c.103_104delinsAT p.R35I Missense 1/16 - 1
2-47630433-CGC-AAG c.103_105delinsAAG p.R35K Missense 1/16 - 1
2-47630433-CG-TA c.103_104delinsTA p.R35Y Missense 1/16 - 1
2-47630433-CGC-TGG c.103_105delinsTGG p.R35W Missense 1/16 - 1
2-47630433-CG-GT c.103_104delinsGT p.R35V Missense 1/16 - 1
2-47630433-CG-AC c.103_104delinsAC p.R35T Missense 1/16 - 1
2-47630433-C-A c.103C>A p.R35S Missense 1/16 - 3
2-47630433-CG-AA c.103_104delinsAA p.R35N Missense 1/16 - 1
2-47630433-CGC-ATG c.103_105delinsATG p.R35M Missense 1/16 - 1
2-47630433-CG-TT c.103_104delinsTT p.R35F Missense 1/16 - 1
2-47630433-CGC-GAG c.103_105delinsGAG p.R35E Missense 1/16 - 1
2-47630433-CG-GA c.103_104delinsGA p.R35D Missense 1/16 - 1
2-47630433-C-T c.103C>T p.R35C Missense 1/16 - 5
2-47630433-CG-GC c.103_104delinsGC p.R35A Missense 1/16 - 2
2-47630433-CGC-TGA c.103_105delinsTGA p.R35* Nonsense 1/16 - 1
2-47630434-G-A c.104G>A p.R35H Missense 1/16 - 3
2-47630434-G-T c.104G>T p.R35L Missense 1/16 - 3
2-47630434-GC-AA c.104_105delinsAA p.R35Q Missense 1/16 - 1
2-47630434-G-C c.104G>C p.R35P Missense 1/16 - 2
2-47630435-C-A c.105C>A p.R35= Synonymous 1/16 - 2
2-47630435-C-G c.105C>G p.R35= Synonymous 1/16 - 1
2-47630435-C-T c.105C>T p.R35= Synonymous 1/16 - 1
2-47630436-CT-TA c.106_107delinsTA p.L36Y Missense 1/16 - 1
2-47630436-CTT-TGG c.106_108delinsTGG p.L36W Missense 1/16 - 1
2-47630436-C-G c.106C>G p.L36V Missense 1/16 - 3
2-47630436-CT-AC c.106_107delinsAC p.L36T Missense 1/16 - 1
2-47630436-CT-AG c.106_107inv p.L36S Missense 1/16 - 1
2-47630436-CT-AA c.106_107delinsAA p.L36N Missense 1/16 - 1
2-47630436-CTT-ATG c.106_108delinsATG p.L36M Missense 1/16 - 1
2-47630436-CTT-AAG c.106_108inv p.L36K Missense 1/16 - 1
2-47630436-C-A c.106C>A p.L36I Missense 1/16 - 3
2-47630436-CT-GG c.106_107delinsGG p.L36G Missense 1/16 - 2
2-47630436-C-T c.106C>T p.L36F Missense 1/16 - 2
2-47630436-CTT-GAG c.106_108delinsGAG p.L36E Missense 1/16 - 1
2-47630436-CT-GA c.106_107delinsGA p.L36D Missense 1/16 - 1
2-47630436-CT-TG c.106_107delinsTG p.L36C Missense 1/16 - 1
2-47630436-CT-GC c.106_107delinsGC p.L36A Missense 1/16 - 1
2-47630437-T-G c.107T>G p.L36R Missense 1/16 - 2
2-47630437-TT-AA c.107_108inv p.L36Q Missense 1/16 - 1
2-47630437-T-C c.107T>C p.L36P Missense 1/16 - 2
2-47630437-T-A c.107T>A p.L36H Missense 1/16 - 2
2-47630439-T-G c.109T>G p.F37V Missense 1/16 - 2
2-47630439-TTC-CAA c.109_111delinsCAA p.F37Q Missense 1/16 - 1
2-47630439-TT-AC c.109_110delinsAC p.F37T Missense 1/16 - 1
2-47630439-TT-CG c.109_110delinsCG p.F37R Missense 1/16 - 1
2-47630439-T-C c.109T>C p.F37L Missense 1/16 - 3
2-47630441-C-A c.111C>A p.F37L Missense 1/16 - 5
2-47630441-C-G c.111C>G p.F37L Missense 1/16 - 4
2-47630439-TT-GA c.109_110delinsGA p.F37D Missense 1/16 - 1
2-47630439-TT-CC c.109_110delinsCC p.F37P Missense 1/16 - 1
2-47630439-TTC-GAG c.109_111delinsGAG p.F37E Missense 1/16 - 1
2-47630439-TTC-AAG c.109_111delinsAAG p.F37K Missense 1/16 - 1
2-47630439-TT-GG c.109_110delinsGG p.F37G Missense 1/16 - 1
2-47630439-TT-AA c.109_110inv p.F37N Missense 1/16 - 1
2-47630439-TTC-ATG c.109_111delinsATG p.F37M Missense 1/16 - 1
2-47630439-TT-CA c.109_110delinsCA p.F37H Missense 1/16 - 1
2-47630439-TT-GC c.109_110delinsGC p.F37A Missense 1/16 - 1
2-47630439-T-A c.109T>A p.F37I Missense 1/16 - 2
2-47630436-CT-C c.110del p.F37Sfs*27 Frameshift 1/16 - 9
2-47630440-TC-GG c.110_111delinsGG p.F37W Missense 1/16 - 1
2-47630440-T-C c.110T>C p.F37S Missense 1/16 - 3
2-47630440-T-A c.110T>A p.F37Y Missense 1/16 - 2
2-47630440-T-G c.110T>G p.F37C Missense 1/16 - 3
2-47630442-G-T c.112G>T p.D38Y Missense 1/16 - 7
2-47630442-GA-TG c.112_113delinsTG p.D38C Missense 1/16 - 1
2-47630442-G-C c.112G>C p.D38H Missense 1/16 - 2
2-47630442-GA-TT c.112_113delinsTT p.D38F Missense 1/16 - 1
2-47630442-GA-AT c.112_113delinsAT p.D38I Missense 1/16 - 1
2-47630442-GAC-AAG c.112_114delinsAAG p.D38K Missense 1/16 - 1
2-47630442-GA-CG c.112_113delinsCG p.D38R Missense 1/16 - 1
2-47630442-GAC-TGG c.112_114delinsTGG p.D38W Missense 1/16 - 1
2-47630442-GAC-CAA c.112_114delinsCAA p.D38Q Missense 1/16 - 1
2-47630442-GA-AC c.112_113delinsAC p.D38T Missense 1/16 - 1
2-47630442-GA-AG c.112_113delinsAG p.D38S Missense 1/16 - 1
2-47630442-GA-CT c.112_113delinsCT p.D38L Missense 1/16 - 1
2-47630442-GA-CC c.112_113delinsCC p.D38P Missense 1/16 - 1
2-47630442-GAC-ATG c.112_114delinsATG p.D38M Missense 1/16 - 1
2-47630442-G-A c.112G>A p.D38N Missense 1/16 - 3
2-47630440-TCGA-T c.112_114del p.D38del InFrameDeletion 1/16 - 1
2-47630443-A-C c.113A>C p.D38A Missense 1/16 - 4
2-47630443-A-G c.113A>G p.D38G Missense 1/16 - 2
2-47630443-A-T c.113A>T p.D38V Missense 1/16 - 2
2-47630444-C-G c.114C>G p.D38E Missense 1/16 - 6
2-47630444-C-A c.114C>A p.D38E Missense 1/16 - 2
2-47630445-CG-GA c.115_116delinsGA p.R39E Missense 1/16 - 2
2-47630445-C-A c.115C>A p.R39= Synonymous 1/16 - 3
2-47630445-CGG-ATC c.115_117delinsATC p.R39I Missense 1/16 - 2
2-47630445-CGG-AAC c.115_117delinsAAC p.R39N Missense 1/16 - 1
2-47630445-CG-AA c.115_116delinsAA p.R39K Missense 1/16 - 1
2-47630445-CGG-TGT c.115_117delinsTGT p.R39C Missense 1/16 - 1
2-47630445-CGG-TTT c.115_117delinsTTT p.R39F Missense 1/16 - 1
2-47630445-C-G c.115C>G p.R39G Missense 1/16 - 3
2-47630445-CG-AT c.115_116delinsAT p.R39M Missense 1/16 - 1
2-47630445-CGG-GAC c.115_117delinsGAC p.R39D Missense 1/16 - 1
2-47630445-CG-AC c.115_116delinsAC p.R39T Missense 1/16 - 1
2-47630445-CG-GT c.115_116delinsGT p.R39V Missense 1/16 - 1
2-47630445-CGG-AGC c.115_117delinsAGC p.R39S Missense 1/16 - 2
2-47630445-C-T c.115C>T p.R39W Missense 1/16 - 2
2-47630445-CGG-TAT c.115_117delinsTAT p.R39Y Missense 1/16 - 1
2-47630445-CG-GC c.115_116delinsGC p.R39A Missense 1/16 - 2
2-47630440-TCGACCGGGG-T c.115_123del p.R39_D41del InFrameDeletion 1/16 - 2
2-47630443-AC-A c.115del p.R39Gfs*25 Frameshift 1/16 - 1
2-47630446-GG-AT c.116_117delinsAT p.R39H Missense 1/16 - 1
2-47630446-G-A c.116G>A p.R39Q Missense 1/16 - 3
2-47630446-G-C c.116G>C p.R39P Missense 1/16 - 5
2-47630446-G-T c.116G>T p.R39L Missense 1/16 - 3
2-47630448-G-A c.118G>A p.G40S Missense 1/16 - 24
2-47630448-G-C c.118G>C p.G40R Missense 1/16 - 2
2-47630448-GGC-CAA c.118_120delinsCAA p.G40Q Missense 1/16 - 1
2-47630448-GG-TT c.118_119delinsTT p.G40F Missense 1/16 - 1
2-47630448-GG-CC c.118_119inv p.G40P Missense 1/16 - 1
2-47630448-GG-AA c.118_119delinsAA p.G40N Missense 1/16 - 1
2-47630448-GGC-ATG c.118_120delinsATG p.G40M Missense 1/16 - 1
2-47630448-G-T c.118G>T p.G40C Missense 1/16 - 2
2-47630448-GG-CT c.118_119delinsCT p.G40L Missense 1/16 - 1
2-47630448-GGC-AAG c.118_120delinsAAG p.G40K Missense 1/16 - 1
2-47630448-GG-AT c.118_119delinsAT p.G40I Missense 1/16 - 1
2-47630448-GG-CA c.118_119delinsCA p.G40H Missense 1/16 - 1
2-47630448-GG-AC c.118_119delinsAC p.G40T Missense 1/16 - 1
2-47630448-GGC-TGG c.118_120delinsTGG p.G40W Missense 1/16 - 1
2-47630448-GG-TA c.118_119delinsTA p.G40Y Missense 1/16 - 1
2-47630448-GGC-TGA c.118_120delinsTGA p.G40* Nonsense 1/16 - 1
2-47630449-G-C c.119G>C p.G40A Missense 1/16 - 4
2-47630445-CG-C c.119del p.G40Afs*24 Frameshift 1/16 - 6
2-47630449-GC-AG c.119_120delinsAG p.G40E Missense 1/16 - 1
2-47630449-G-A c.119G>A p.G40D Missense 1/16 - 3
2-47630449-G-T c.119G>T p.G40V Missense 1/16 - 3
2-47630450-C-T c.120C>T p.G40= Synonymous 1/16 - 2
2-47630451-G-T c.121G>T p.D41Y Missense 1/16 - 3
2-47630451-GAC-TGG c.121_123delinsTGG p.D41W Missense 1/16 - 1
2-47630451-GA-AC c.121_122delinsAC p.D41T Missense 1/16 - 1
2-47630451-GA-AG c.121_122delinsAG p.D41S Missense 1/16 - 1
2-47630451-GA-CG c.121_122delinsCG p.D41R Missense 1/16 - 1
2-47630451-GA-TG c.121_122delinsTG p.D41C Missense 1/16 - 1
2-47630451-GAC-CAA c.121_123delinsCAA p.D41Q Missense 1/16 - 1
2-47630451-GA-CC c.121_122delinsCC p.D41P Missense 1/16 - 1
2-47630451-G-A c.121G>A p.D41N Missense 1/16 - 2
2-47630451-GAC-ATG c.121_123delinsATG p.D41M Missense 1/16 - 1
2-47630451-GA-TT c.121_122delinsTT p.D41F Missense 1/16 - 1
2-47630451-G-C c.121G>C p.D41H Missense 1/16 - 3
2-47630451-GA-CT c.121_122delinsCT p.D41L Missense 1/16 - 1
2-47630451-GAC-AAG c.121_123delinsAAG p.D41K Missense 1/16 - 1
2-47630451-GA-AT c.121_122delinsAT p.D41I Missense 1/16 - 1
2-47630452-A-G c.122A>G p.D41G Missense 1/16 - 4
2-47630452-A-T c.122A>T p.D41V Missense 1/16 - 3
2-47630452-A-C c.122A>C p.D41A Missense 1/16 - 2
2-47630453-C-G c.123C>G p.D41E Missense 1/16 - 6
2-47630453-C-A c.123C>A p.D41E Missense 1/16 - 2
2-47630454-TT-CA c.124_125delinsCA p.F42H Missense 1/16 - 1
2-47630454-TT-GG c.124_125delinsGG p.F42G Missense 1/16 - 1
2-47630454-TTC-GAG c.124_126delinsGAG p.F42E Missense 1/16 - 1
2-47630454-TT-GA c.124_125delinsGA p.F42D Missense 1/16 - 1
2-47630454-TT-GC c.124_125delinsGC p.F42A Missense 1/16 - 1
2-47630454-T-A c.124T>A p.F42I Missense 1/16 - 2
2-47630454-TT-CG c.124_125delinsCG p.F42R Missense 1/16 - 1
2-47630454-T-C c.124T>C p.F42L Missense 1/16 - 5
2-47630456-C-A c.126C>A p.F42L Missense 1/16 - 4
2-47630454-TT-CC c.124_125delinsCC p.F42P Missense 1/16 - 1
2-47630454-TTC-AAG c.124_126delinsAAG p.F42K Missense 1/16 - 1
2-47630454-T-G c.124T>G p.F42V Missense 1/16 - 2
2-47630454-TT-AA c.124_125inv p.F42N Missense 1/16 - 1
2-47630454-TT-AC c.124_125delinsAC p.F42T Missense 1/16 - 1
2-47630454-TTC-ATG c.124_126delinsATG p.F42M Missense 1/16 - 1
2-47630454-TTC-CAA c.124_126delinsCAA p.F42Q Missense 1/16 - 1
2-47630455-T-G c.125T>G p.F42C Missense 1/16 - 2
2-47630455-T-C c.125T>C p.F42S Missense 1/16 - 2
2-47630455-TC-GG c.125_126delinsGG p.F42W Missense 1/16 - 1
2-47630455-T-A c.125T>A p.F42Y Missense 1/16 - 2
2-47630456-C-G c.126C>G p.F42L Missense 1/16 - 7
2-47630457-TAT-GAG c.127_129delinsGAG p.Y43E Missense 1/16 - 1
2-47630457-T-G c.127T>G p.Y43D Missense 1/16 - 3
2-47630457-TA-GC c.127_128delinsGC p.Y43A Missense 1/16 - 2
2-47630457-TA-AC c.127_128delinsAC p.Y43T Missense 1/16 - 1
2-47630457-TA-CC c.127_128delinsCC p.Y43P Missense 1/16 - 1
2-47630457-TA-GT c.127_128delinsGT p.Y43V Missense 1/16 - 1
2-47630457-TAT-ATG c.127_129delinsATG p.Y43M Missense 1/16 - 1
2-47630457-TA-CG c.127_128delinsCG p.Y43R Missense 1/16 - 1
2-47630457-TAT-CAA c.127_129delinsCAA p.Y43Q Missense 1/16 - 1
2-47630457-TAT-AAG c.127_129delinsAAG p.Y43K Missense 1/16 - 1
2-47630457-T-A c.127T>A p.Y43N Missense 1/16 - 2
2-47630457-TA-AT c.127_128delinsAT p.Y43I Missense 1/16 - 1
2-47630457-T-C c.127T>C p.Y43H Missense 1/16 - 3
2-47630457-TA-GG c.127_128delinsGG p.Y43G Missense 1/16 - 1
2-47630457-TA-CT c.127_128delinsCT p.Y43L Missense 1/16 - 1
2-47630457-CT-C c.127del p.Y43Ifs*21 Frameshift 1/16 - 1
2-47630458-A-G c.128A>G p.Y43C Missense 1/16 - 23
2-47630458-A-T c.128A>T p.Y43F Missense 1/16 - 3
2-47630458-AT-GG c.128_129delinsGG p.Y43W Missense 1/16 - 1
2-47630458-A-C c.128A>C p.Y43S Missense 1/16 - 2
2-47630459-T-C c.129T>C p.Y43= Synonymous 1/16 - 1
2-47630459-T-G c.129T>G p.Y43* Nonsense 1/16 - 4
2-47630459-T-A c.129T>A p.Y43* Nonsense 1/16 - 1
2-47630460-A-G c.130A>G p.T44A Missense 1/16 - 3
2-47630460-AC-CT c.130_131delinsCT p.T44L Missense 1/16 - 1
2-47630460-A-T c.130A>T p.T44S Missense 1/16 - 2
2-47630460-ACG-CAT c.130_132delinsCAT p.T44H Missense 1/16 - 1
2-47630460-AC-GA c.130_131delinsGA p.T44E Missense 1/16 - 1
2-47630460-AC-TG c.130_131delinsTG p.T44W Missense 1/16 - 1
2-47630460-ACG-TAT c.130_132delinsTAT p.T44Y Missense 1/16 - 1
2-47630460-ACG-TGT c.130_132delinsTGT p.T44C Missense 1/16 - 1
2-47630460-AC-GG c.130_131delinsGG p.T44G Missense 1/16 - 1
2-47630460-A-C c.130A>C p.T44P Missense 1/16 - 2
2-47630460-AC-CA c.130_131delinsCA p.T44Q Missense 1/16 - 1
2-47630460-ACG-GAC c.130_132delinsGAC p.T44D Missense 1/16 - 1
2-47630460-AC-GT c.130_131inv p.T44V Missense 1/16 - 1
2-47630460-ACG-TTT c.130_132delinsTTT p.T44F Missense 1/16 - 1
2-47630461-C-T c.131C>T p.T44M Missense 1/16 - 9
2-47630461-CG-TC c.131_132delinsTC p.T44I Missense 1/16 - 1
2-47630461-CG-AC c.131_132delinsAC p.T44N Missense 1/16 - 1
2-47630461-C-G c.131C>G p.T44R Missense 1/16 - 2
2-47630461-C-A c.131C>A p.T44K Missense 1/16 - 3
2-47630462-G-C c.132G>C p.T44= Synonymous 1/16 - 2
2-47630462-G-A c.132G>A p.T44= Synonymous 1/16 - 1
2-47630462-G-T c.132G>T p.T44= Synonymous 1/16 - 1
2-47630463-G-A c.133G>A p.A45T Missense 1/16 - 4
2-47630463-GC-CT c.133_134delinsCT p.A45L Missense 1/16 - 1
2-47630463-GC-AT c.133_134delinsAT p.A45M Missense 1/16 - 1
2-47630463-GC-CA c.133_134delinsCA p.A45Q Missense 1/16 - 1
2-47630463-G-C c.133G>C p.A45P Missense 1/16 - 2
2-47630463-GCG-AAC c.133_135delinsAAC p.A45N Missense 1/16 - 1
2-47630463-GCG-ATC c.133_135delinsATC p.A45I Missense 1/16 - 1
2-47630463-GCG-CAT c.133_135delinsCAT p.A45H Missense 1/16 - 1
2-47630463-GC-AA c.133_134delinsAA p.A45K Missense 1/16 - 1
2-47630463-GCG-TGT c.133_135delinsTGT p.A45C Missense 1/16 - 1
2-47630463-GCG-TTT c.133_135delinsTTT p.A45F Missense 1/16 - 2
2-47630463-GC-AG c.133_134delinsAG p.A45R Missense 1/16 - 1
2-47630463-G-T c.133G>T p.A45S Missense 1/16 - 2
2-47630463-GC-TG c.133_134delinsTG p.A45W Missense 1/16 - 1
2-47630463-GCG-TAT c.133_135delinsTAT p.A45Y Missense 1/16 - 1
2-47630461-C-CG c.133dup p.A45Gfs*37 Frameshift 1/16 - 1
2-47630464-C-T c.134C>T p.A45V Missense 1/16 - 12
2-47630464-C-A c.134C>A p.A45E Missense 1/16 - 3
2-47630464-CG-AC c.134_135delinsAC p.A45D Missense 1/16 - 1
2-47630464-C-G c.134C>G p.A45G Missense 1/16 - 4
2-47630463-GCGCACGGCGAGGACGCGCTGCTGGCCGCC-G c.136_164del p.H46Gfs*26 Frameshift 1/16 - 4
2-47630466-C-T c.136C>T p.H46Y Missense 1/16 - 3
2-47630466-CAC-TGG c.136_138delinsTGG p.H46W Missense 1/16 - 1
2-47630466-CA-GT c.136_137delinsGT p.H46V Missense 1/16 - 1
2-47630466-CA-AC c.136_137delinsAC p.H46T Missense 1/16 - 1
2-47630466-CA-AG c.136_137delinsAG p.H46S Missense 1/16 - 1
2-47630466-C-A c.136C>A p.H46N Missense 1/16 - 2
2-47630466-CAC-ATG c.136_138delinsATG p.H46M Missense 1/16 - 1
2-47630466-CAC-AAG c.136_138delinsAAG p.H46K Missense 1/16 - 1
2-47630466-CA-AT c.136_137delinsAT p.H46I Missense 1/16 - 1
2-47630466-CA-GG c.136_137delinsGG p.H46G Missense 1/16 - 2
2-47630466-CA-TT c.136_137delinsTT p.H46F Missense 1/16 - 1
2-47630466-CAC-GAG c.136_138delinsGAG p.H46E Missense 1/16 - 1
2-47630466-C-G c.136C>G p.H46D Missense 1/16 - 2
2-47630466-CA-TG c.136_137inv p.H46C Missense 1/16 - 1
2-47630466-CA-GC c.136_137delinsGC p.H46A Missense 1/16 - 1
2-47630465-G-GC c.136dup p.H46Pfs*36 Frameshift 1/16 - 1
2-47630467-A-G c.137A>G p.H46R Missense 1/16 - 3
2-47630467-A-C c.137A>C p.H46P Missense 1/16 - 3
2-47630467-A-T c.137A>T p.H46L Missense 1/16 - 2
2-47630468-C-G c.138C>G p.H46Q Missense 1/16 - 23
2-47630468-C-T c.138C>T p.H46= Synonymous 1/16 - 5
2-47630468-C-A c.138C>A p.H46Q Missense 1/16 - 7
2-47630468-C-CTCTTG c.138_139insTCTTG p.G47Sfs*19 Frameshift 1/16 - 1
2-47630469-GG-AA c.139_140delinsAA p.G47N Missense 1/16 - 1
2-47630469-GGC-ATG c.139_141delinsATG p.G47M Missense 1/16 - 1
2-47630469-GG-CT c.139_140delinsCT p.G47L Missense 1/16 - 1
2-47630469-GGC-AAG c.139_141delinsAAG p.G47K Missense 1/16 - 1
2-47630469-GG-AT c.139_140delinsAT p.G47I Missense 1/16 - 1
2-47630469-GG-CA c.139_140delinsCA p.G47H Missense 1/16 - 1
2-47630469-GG-TT c.139_140delinsTT p.G47F Missense 1/16 - 1
2-47630469-G-T c.139G>T p.G47C Missense 1/16 - 2
2-47630469-GG-AC c.139_140delinsAC p.G47T Missense 1/16 - 1
2-47630469-G-A c.139G>A p.G47S Missense 1/16 - 3
2-47630469-G-C c.139G>C p.G47R Missense 1/16 - 3
2-47630469-GGC-CAA c.139_141delinsCAA p.G47Q Missense 1/16 - 1
2-47630469-GG-CC c.139_140inv p.G47P Missense 1/16 - 1
2-47630469-GG-TA c.139_140delinsTA p.G47Y Missense 1/16 - 1
2-47630469-GGC-TGG c.139_141delinsTGG p.G47W Missense 1/16 - 1
2-47630469-G-GTTAGCTGGGACCAC c.139_140insTTAGCTGGGACCAC p.G47Vfs*22 Frameshift 1/16 - 1
2-47630470-G-C c.140G>C p.G47A Missense 1/16 - 3
2-47630470-GC-AG c.140_141delinsAG p.G47E Missense 1/16 - 1
2-47630470-G-A c.140G>A p.G47D Missense 1/16 - 3
2-47630470-G-T c.140G>T p.G47V Missense 1/16 - 2
2-47630467-ACGGCGAGGACG-A c.140_150del p.G47Afs*31 Frameshift 1/16 - 1
2-47630471-GCGAGGACGCGCTGC-G c.141_154del p.E48Gfs*29 Frameshift 1/16 - 1
2-47630472-G-T c.142G>T p.E48* Nonsense 1/16 - 12
2-47630472-G-A c.142G>A p.E48K Missense 1/16 - 4
2-47630472-GAG-TTT c.142_144delinsTTT p.E48F Missense 1/16 - 1
2-47630472-GAG-TGT c.142_144delinsTGT p.E48C Missense 1/16 - 1
2-47630472-GAG-ATC c.142_144delinsATC p.E48I Missense 1/16 - 1
2-47630472-GAG-TAT c.142_144delinsTAT p.E48Y Missense 1/16 - 1
2-47630472-GA-AG c.142_143delinsAG p.E48R Missense 1/16 - 1
2-47630472-GA-CC c.142_143delinsCC p.E48P Missense 1/16 - 1
2-47630472-GAG-AAC c.142_144delinsAAC p.E48N Missense 1/16 - 1
2-47630472-GAG-CAT c.142_144delinsCAT p.E48H Missense 1/16 - 1
2-47630472-G-C c.142G>C p.E48Q Missense 1/16 - 2
2-47630472-GA-TG c.142_143delinsTG p.E48W Missense 1/16 - 1
2-47630472-GA-CT c.142_143delinsCT p.E48L Missense 1/16 - 1
2-47630472-GA-AC c.142_143delinsAC p.E48T Missense 1/16 - 1
2-47630472-GA-AT c.142_143delinsAT p.E48M Missense 1/16 - 1
2-47630472-GA-TC c.142_143inv p.E48S Missense 1/16 - 1
2-47630473-A-G c.143A>G p.E48G Missense 1/16 - 4
2-47630473-A-C c.143A>C p.E48A Missense 1/16 - 4
2-47630473-A-T c.143A>T p.E48V Missense 1/16 - 2
2-47630474-G-A c.144G>A p.E48= Synonymous 1/16 - 2
2-47630474-G-C c.144G>C p.E48D Missense 1/16 - 2
2-47630474-G-T c.144G>T p.E48D Missense 1/16 - 2
2-47630473-AGGAC-A c.145_148del p.D49Rfs*14 Frameshift 1/16 - 2
2-47630475-G-A c.145G>A p.D49N Missense 1/16 - 5
2-47630475-G-T c.145G>T p.D49Y Missense 1/16 - 2
2-47630475-G-C c.145G>C p.D49H Missense 1/16 - 5
2-47630475-GA-CC c.145_146delinsCC p.D49P Missense 1/16 - 1
2-47630475-GA-AG c.145_146delinsAG p.D49S Missense 1/16 - 1
2-47630475-GAC-ATG c.145_147delinsATG p.D49M Missense 1/16 - 1
2-47630475-GA-AC c.145_146delinsAC p.D49T Missense 1/16 - 2
2-47630475-GA-CG c.145_146delinsCG p.D49R Missense 1/16 - 2
2-47630475-GAC-AAG c.145_147delinsAAG p.D49K Missense 1/16 - 1
2-47630475-GAC-CAA c.145_147delinsCAA p.D49Q Missense 1/16 - 1
2-47630475-GAC-TGG c.145_147delinsTGG p.D49W Missense 1/16 - 1
2-47630475-GA-AT c.145_146delinsAT p.D49I Missense 1/16 - 1
2-47630475-GA-TG c.145_146delinsTG p.D49C Missense 1/16 - 1
2-47630475-GA-CT c.145_146delinsCT p.D49L Missense 1/16 - 1
2-47630475-GA-TT c.145_146delinsTT p.D49F Missense 1/16 - 1
2-47630473-AG-A c.145del p.D49Tfs*15 Frameshift 1/16 - 4
2-47630475-GGA-G c.145_146del p.D49Rfs*32 Frameshift 1/16 - 3
2-47630476-A-T c.146A>T p.D49V Missense 1/16 - 8
2-47630476-A-G c.146A>G p.D49G Missense 1/16 - 3
2-47630476-A-C c.146A>C p.D49A Missense 1/16 - 2
2-47630477-C-G c.147C>G p.D49E Missense 1/16 - 5
2-47630477-C-A c.147C>A p.D49E Missense 1/16 - 2
2-47630477-C-T c.147C>T p.D49= Synonymous 1/16 - 1
2-47630478-GC-TG c.148_149delinsTG p.A50W Missense 1/16 - 1
2-47630478-G-T c.148G>T p.A50S Missense 1/16 - 3
2-47630478-GC-CA c.148_149delinsCA p.A50Q Missense 1/16 - 1
2-47630478-G-A c.148G>A p.A50T Missense 1/16 - 2
2-47630478-GC-AG c.148_149delinsAG p.A50R Missense 1/16 - 1
2-47630478-GCG-TTT c.148_150delinsTTT p.A50F Missense 1/16 - 1
2-47630478-GCG-ATC c.148_150delinsATC p.A50I Missense 1/16 - 1
2-47630478-GCG-CAT c.148_150delinsCAT p.A50H Missense 1/16 - 1
2-47630478-GC-AA c.148_149delinsAA p.A50K Missense 1/16 - 1
2-47630478-G-C c.148G>C p.A50P Missense 1/16 - 2
2-47630478-GCG-TAT c.148_150delinsTAT p.A50Y Missense 1/16 - 1
2-47630478-GCG-TGT c.148_150delinsTGT p.A50C Missense 1/16 - 2
2-47630478-GC-AT c.148_149delinsAT p.A50M Missense 1/16 - 1
2-47630478-GCG-AAC c.148_150delinsAAC p.A50N Missense 1/16 - 1
2-47630478-GC-CT c.148_149delinsCT p.A50L Missense 1/16 - 2
2-47630479-C-T c.149C>T p.A50V Missense 1/16 - 2
2-47630479-C-G c.149C>G p.A50G Missense 1/16 - 4
2-47630479-C-A c.149C>A p.A50E Missense 1/16 - 3
2-47630479-CG-AC c.149_150delinsAC p.A50D Missense 1/16 - 2
2-47630480-G-A c.150G>A p.A50= Synonymous 1/16 - 1
2-47630481-CT-TC c.151_152delinsTC p.L51S Missense 1/16 - 2
2-47630481-CT-TG c.151_152delinsTG p.L51W Missense 1/16 - 1
2-47630481-CT-AA c.151_152delinsAA p.L51K Missense 1/16 - 1
2-47630481-CTG-AAC c.151_153delinsAAC p.L51N Missense 1/16 - 1
2-47630481-CT-GG c.151_152delinsGG p.L51G Missense 1/16 - 1
2-47630481-CT-AC c.151_152delinsAC p.L51T Missense 1/16 - 1
2-47630481-CTG-GAC c.151_153delinsGAC p.L51D Missense 1/16 - 1
2-47630481-CTG-TGT c.151_153delinsTGT p.L51C Missense 1/16 - 1
2-47630481-CTG-ATC c.151_153delinsATC p.L51I Missense 1/16 - 1
2-47630481-CTG-TTT c.151_153delinsTTT p.L51F Missense 1/16 - 2
2-47630481-C-A c.151C>A p.L51M Missense 1/16 - 2
2-47630481-CTG-TAT c.151_153delinsTAT p.L51Y Missense 1/16 - 1
2-47630481-CT-GC c.151_152delinsGC p.L51A Missense 1/16 - 1
2-47630481-C-G c.151C>G p.L51V Missense 1/16 - 2
2-47630481-CT-GA c.151_152delinsGA p.L51E Missense 1/16 - 1
2-47630481-C-CT c.152dup p.L52Afs*30 Frameshift 1/16 - 1
2-47630482-T-C c.152T>C p.L51P Missense 1/16 - 3
2-47630482-T-G c.152T>G p.L51R Missense 1/16 - 3
2-47630482-TG-AT c.152_153delinsAT p.L51H Missense 1/16 - 1
2-47630482-T-A c.152T>A p.L51Q Missense 1/16 - 2
2-47630483-G-GTAAA c.153_154insTAAA p.L52* Nonsense 1/16 - 1
2-47630482-T-TG c.153dup p.L52Afs*30 Frameshift 1/16 - 1
2-47630484-CTG-AAC c.154_156delinsAAC p.L52N Missense 1/16 - 1
2-47630484-CT-AA c.154_155delinsAA p.L52K Missense 1/16 - 1
2-47630484-C-A c.154C>A p.L52M Missense 1/16 - 3
2-47630484-CT-GC c.154_155delinsGC p.L52A Missense 1/16 - 2
2-47630484-CT-AC c.154_155delinsAC p.L52T Missense 1/16 - 1
2-47630484-C-G c.154C>G p.L52V Missense 1/16 - 3
2-47630484-CT-GA c.154_155delinsGA p.L52E Missense 1/16 - 1
2-47630484-CTG-TTT c.154_156delinsTTT p.L52F Missense 1/16 - 2
2-47630484-CTG-TGT c.154_156delinsTGT p.L52C Missense 1/16 - 1
2-47630484-CT-GG c.154_155delinsGG p.L52G Missense 1/16 - 1
2-47630484-CTG-ATC c.154_156delinsATC p.L52I Missense 1/16 - 1
2-47630484-CTG-TAT c.154_156delinsTAT p.L52Y Missense 1/16 - 1
2-47630484-CT-TG c.154_155delinsTG p.L52W Missense 1/16 - 1
2-47630484-CTG-GAC c.154_156delinsGAC p.L52D Missense 1/16 - 1
2-47630484-CT-TC c.154_155delinsTC p.L52S Missense 1/16 - 1
2-47630484-C-CG c.154_155insG p.L52Rfs*30 Frameshift 1/16 - 3
2-47630485-T-G c.155T>G p.L52R Missense 1/16 - 3
2-47630485-T-C c.155T>C p.L52P Missense 1/16 - 3
2-47630485-T-A c.155T>A p.L52Q Missense 1/16 - 2
2-47630485-TG-AT c.155_156delinsAT p.L52H Missense 1/16 - 1
2-47630482-TGCTG-T c.155_158del p.L52Pfs*11 Frameshift 1/16 - 1
2-47630484-C-T c.154C>T p.L52= Synonymous 1/16 - 2
2-47630487-G-A c.157G>A p.A53T Missense 1/16 - 4
2-47630487-GC-TG c.157_158delinsTG p.A53C Missense 1/16 - 1
2-47630487-GC-CA c.157_158delinsCA p.A53H Missense 1/16 - 1
2-47630487-GC-AA c.157_158delinsAA p.A53N Missense 1/16 - 1
2-47630487-GC-AT c.157_158delinsAT p.A53I Missense 1/16 - 1
2-47630487-GCC-CAA c.157_159delinsCAA p.A53Q Missense 1/16 - 1
2-47630487-GCC-TGG c.157_159delinsTGG p.A53W Missense 1/16 - 1
2-47630487-GC-TT c.157_158delinsTT p.A53F Missense 1/16 - 1
2-47630487-GC-CT c.157_158delinsCT p.A53L Missense 1/16 - 1
2-47630487-G-T c.157G>T p.A53S Missense 1/16 - 6
2-47630487-GCC-AAG c.157_159delinsAAG p.A53K Missense 1/16 - 1
2-47630487-G-C c.157G>C p.A53P Missense 1/16 - 2
2-47630487-GC-CG c.157_158delinsCG p.A53R Missense 1/16 - 1
2-47630487-GC-TA c.157_158delinsTA p.A53Y Missense 1/16 - 1
2-47630487-GCC-ATG c.157_159delinsATG p.A53M Missense 1/16 - 1
2-47630488-C-A c.158C>A p.A53D Missense 1/16 - 3
2-47630488-CC-AG c.158_159delinsAG p.A53E Missense 1/16 - 1
2-47630488-C-G c.158C>G p.A53G Missense 1/16 - 3
2-47630488-C-T c.158C>T p.A53V Missense 1/16 - 2
2-47630489-C-T c.159C>T p.A53= Synonymous 1/16 - 2
2-47630490-GC-TA c.160_161delinsTA p.A54Y Missense 1/16 - 3
2-47630490-G-C c.160G>C p.A54P Missense 1/16 - 5
2-47630490-G-T c.160G>T p.A54S Missense 1/16 - 9
2-47630490-G-A c.160G>A p.A54T Missense 1/16 - 6
2-47630490-GC-TT c.160_161delinsTT p.A54F Missense 1/16 - 3
2-47630490-GC-CT c.160_161delinsCT p.A54L Missense 1/16 - 1
2-47630490-GCC-ATG c.160_162delinsATG p.A54M Missense 1/16 - 1
2-47630490-GC-CA c.160_161delinsCA p.A54H Missense 1/16 - 1
2-47630490-GCC-CAA c.160_162delinsCAA p.A54Q Missense 1/16 - 1
2-47630490-GCC-TGG c.160_162delinsTGG p.A54W Missense 1/16 - 1
2-47630490-GC-TG c.160_161delinsTG p.A54C Missense 1/16 - 2
2-47630490-GC-AA c.160_161delinsAA p.A54N Missense 1/16 - 1
2-47630490-GC-CG c.160_161delinsCG p.A54R Missense 1/16 - 2
2-47630490-GC-AT c.160_161delinsAT p.A54I Missense 1/16 - 1
2-47630490-GCC-AAG c.160_162delinsAAG p.A54K Missense 1/16 - 1
2-47630490-CG-C c.160del p.A54Pfs*10 Frameshift 1/16 - 1
2-47630491-C-A c.161C>A p.A54D Missense 1/16 - 3
2-47630491-C-G c.161C>G p.A54G Missense 1/16 - 2
2-47630491-C-T c.161C>T p.A54V Missense 1/16 - 5
2-47630491-CC-AG c.161_162delinsAG p.A54E Missense 1/16 - 1
2-47630493-C-G c.163C>G p.R55G Missense 1/16 - 7
2-47630490-GC-G c.163del p.R55Gfs*9 Frameshift 1/16 - 6
2-47630493-C-T c.163C>T p.R55W Missense 1/16 - 6
2-47630493-CG-AA c.163_164delinsAA p.R55K Missense 1/16 - 1
2-47630493-CGG-ATC c.163_165delinsATC p.R55I Missense 1/16 - 1
2-47630493-CGG-GAC c.163_165delinsGAC p.R55D Missense 1/16 - 2
2-47630493-CGG-TGT c.163_165delinsTGT p.R55C Missense 1/16 - 1
2-47630493-CGG-TTT c.163_165delinsTTT p.R55F Missense 1/16 - 1
2-47630493-CG-GA c.163_164delinsGA p.R55E Missense 1/16 - 1
2-47630493-CG-AT c.163_164delinsAT p.R55M Missense 1/16 - 1
2-47630493-CG-GC c.163_164delinsGC p.R55A Missense 1/16 - 1
2-47630493-CGG-AAC c.163_165delinsAAC p.R55N Missense 1/16 - 2
2-47630493-CGG-AGC c.163_165delinsAGC p.R55S Missense 1/16 - 1
2-47630493-CG-GT c.163_164delinsGT p.R55V Missense 1/16 - 1
2-47630493-CGG-TAT c.163_165delinsTAT p.R55Y Missense 1/16 - 1
2-47630493-CG-AC c.163_164delinsAC p.R55T Missense 1/16 - 1
2-47630494-G-A c.164G>A p.R55Q Missense 1/16 - 8
2-47630494-GG-AT c.164_165delinsAT p.R55H Missense 1/16 - 2
2-47630494-G-T c.164G>T p.R55L Missense 1/16 - 2
2-47630494-G-C c.164G>C p.R55P Missense 1/16 - 2
2-47630496-G-A c.166G>A p.E56K Missense 1/16 - 7
2-47630496-G-T c.166G>T p.E56* Nonsense 1/16 - 10
2-47630493-CG-C c.166del p.E56Rfs*8 Frameshift 1/16 - 4
2-47630496-GA-TC c.166_167inv p.E56S Missense 1/16 - 1
2-47630496-GA-CC c.166_167delinsCC p.E56P Missense 1/16 - 1
2-47630496-G-C c.166G>C p.E56Q Missense 1/16 - 4
2-47630496-GA-AG c.166_167delinsAG p.E56R Missense 1/16 - 2
2-47630496-GAG-TAT c.166_168delinsTAT p.E56Y Missense 1/16 - 1
2-47630496-GA-TG c.166_167delinsTG p.E56W Missense 1/16 - 1
2-47630496-GA-AC c.166_167delinsAC p.E56T Missense 1/16 - 1
2-47630496-GA-AT c.166_167delinsAT p.E56M Missense 1/16 - 1
2-47630496-GA-CT c.166_167delinsCT p.E56L Missense 1/16 - 2
2-47630496-GAG-TTT c.166_168delinsTTT p.E56F Missense 1/16 - 1
2-47630496-GAG-TGT c.166_168delinsTGT p.E56C Missense 1/16 - 1
2-47630496-GAG-AAC c.166_168delinsAAC p.E56N Missense 1/16 - 1
2-47630496-GAG-ATC c.166_168delinsATC p.E56I Missense 1/16 - 1
2-47630496-GAG-CAT c.166_168delinsCAT p.E56H Missense 1/16 - 1
2-47630497-A-T c.167A>T p.E56V Missense 1/16 - 4
2-47630497-A-G c.167A>G p.E56G Missense 1/16 - 4
2-47630497-A-C c.167A>C p.E56A Missense 1/16 - 4
2-47630494-GGGAGGTGTTCAAGACCCA-G c.167_184del p.E56_Q61del InFrameDeletion 1/16 - 1
2-47630498-G-C c.168G>C p.E56D Missense 1/16 - 2
2-47630498-G-T c.168G>T p.E56D Missense 1/16 - 2
2-47630499-G-A c.169G>A p.V57M Missense 1/16 - 6
2-47630499-GTG-TAT c.169_171delinsTAT p.V57Y Missense 1/16 - 1
2-47630499-GT-TG c.169_170delinsTG p.V57W Missense 1/16 - 1
2-47630499-GT-AC c.169_170inv p.V57T Missense 1/16 - 1
2-47630499-GT-TC c.169_170delinsTC p.V57S Missense 1/16 - 1
2-47630499-GT-AG c.169_170delinsAG p.V57R Missense 1/16 - 1
2-47630499-GT-CA c.169_170delinsCA p.V57Q Missense 1/16 - 1
2-47630499-GT-CC c.169_170delinsCC p.V57P Missense 1/16 - 1
2-47630499-GTG-AAC c.169_171delinsAAC p.V57N Missense 1/16 - 1
2-47630499-G-C c.169G>C p.V57L Missense 1/16 - 2
2-47630499-G-T c.169G>T p.V57L Missense 1/16 - 2
2-47630499-GT-AA c.169_170delinsAA p.V57K Missense 1/16 - 1
2-47630499-GTG-ATC c.169_171delinsATC p.V57I Missense 1/16 - 1
2-47630499-GTG-CAT c.169_171delinsCAT p.V57H Missense 1/16 - 1
2-47630499-GTG-TTT c.169_171delinsTTT p.V57F Missense 1/16 - 1
2-47630499-GTG-TGT c.169_171delinsTGT p.V57C Missense 1/16 - 1
2-47630500-T-G c.170T>G p.V57G Missense 1/16 - 4
2-47630500-T-C c.170T>C p.V57A Missense 1/16 - 3
2-47630500-T-A c.170T>A p.V57E Missense 1/16 - 2
2-47630500-TG-AC c.170_171delinsAC p.V57D Missense 1/16 - 1
2-47630500-T-TGCAGCAGCAGCAGCA c.171_172insCAGCAGCAGCAGCAG p.V57_F58insQQQQQ InFrameInsertion 1/16 - 1
2-47630502-T-C c.172T>C p.F58L Missense 1/16 - 4
2-47630504-C-A c.174C>A p.F58L Missense 1/16 - 5
2-47630502-TT-GC c.172_173delinsGC p.F58A Missense 1/16 - 1
2-47630502-TT-AA c.172_173inv p.F58N Missense 1/16 - 1
2-47630502-TTC-ATG c.172_174delinsATG p.F58M Missense 1/16 - 1
2-47630502-TTC-AAG c.172_174delinsAAG p.F58K Missense 1/16 - 1
2-47630502-T-A c.172T>A p.F58I Missense 1/16 - 3
2-47630502-TT-CA c.172_173delinsCA p.F58H Missense 1/16 - 1
2-47630502-TT-GG c.172_173delinsGG p.F58G Missense 1/16 - 1
2-47630502-TTC-GAG c.172_174delinsGAG p.F58E Missense 1/16 - 1
2-47630502-TT-GA c.172_173delinsGA p.F58D Missense 1/16 - 1
2-47630502-TT-AC c.172_173delinsAC p.F58T Missense 1/16 - 1
2-47630502-TT-CG c.172_173delinsCG p.F58R Missense 1/16 - 1
2-47630502-T-G c.172T>G p.F58V Missense 1/16 - 2
2-47630502-TT-CC c.172_173delinsCC p.F58P Missense 1/16 - 1
2-47630502-TTC-CAA c.172_174delinsCAA p.F58Q Missense 1/16 - 1
2-47630503-T-G c.173T>G p.F58C Missense 1/16 - 1
2-47630503-TC-GG c.173_174delinsGG p.F58W Missense 1/16 - 1
2-47630503-T-A c.173T>A p.F58Y Missense 1/16 - 1
2-47630503-T-C c.173T>C p.F58S Missense 1/16 - 4
2-47630503-T-TC c.174dup p.K59Qfs*23 Frameshift 1/16 - 3
2-47630504-C-G c.174C>G p.F58L Missense 1/16 - 9
2-47630504-C-T c.174C>T p.F58= Synonymous 1/16 - 1
2-47630505-A-G c.175A>G p.K59E Missense 1/16 - 4
2-47630505-A-C c.175A>C p.K59Q Missense 1/16 - 2
2-47630505-AAG-TTT c.175_177delinsTTT p.K59F Missense 1/16 - 1
2-47630505-AA-GG c.175_176delinsGG p.K59G Missense 1/16 - 1
2-47630505-AA-CC c.175_176delinsCC p.K59P Missense 1/16 - 1
2-47630505-AAG-CAT c.175_177delinsCAT p.K59H Missense 1/16 - 1
2-47630505-AA-CT c.175_176delinsCT p.K59L Missense 1/16 - 1
2-47630505-AAG-TAT c.175_177delinsTAT p.K59Y Missense 1/16 - 1
2-47630505-AAG-GAC c.175_177delinsGAC p.K59D Missense 1/16 - 1
2-47630505-AA-GC c.175_176delinsGC p.K59A Missense 1/16 - 2
2-47630505-AAG-TGT c.175_177delinsTGT p.K59C Missense 1/16 - 1
2-47630505-AA-GT c.175_176delinsGT p.K59V Missense 1/16 - 1
2-47630505-AA-TG c.175_176delinsTG p.K59W Missense 1/16 - 1
2-47630505-A-T c.175A>T p.K59* Nonsense 1/16 - 3
2-47630504-CA-C c.176del p.K59Rfs*5 Frameshift 1/16 - 3
2-47630506-A-T c.176A>T p.K59M Missense 1/16 - 2
2-47630506-AG-TC c.176_177delinsTC p.K59I Missense 1/16 - 1
2-47630506-AG-GC c.176_177delinsGC p.K59S Missense 1/16 - 1
2-47630506-A-C c.176A>C p.K59T Missense 1/16 - 2
2-47630506-A-G c.176A>G p.K59R Missense 1/16 - 2
2-47630504-C-CA c.176dup p.T60Dfs*22 Frameshift 1/16 - 1
2-47630507-G-C c.177G>C p.K59N Missense 1/16 - 2
2-47630507-G-T c.177G>T p.K59N Missense 1/16 - 2
2-47630508-AC-GA c.178_179delinsGA p.T60D Missense 1/16 - 1
2-47630508-ACC-GAG c.178_180delinsGAG p.T60E Missense 1/16 - 1
2-47630508-AC-GG c.178_179delinsGG p.T60G Missense 1/16 - 1
2-47630508-AC-CT c.178_179delinsCT p.T60L Missense 1/16 - 1
2-47630508-A-G c.178A>G p.T60A Missense 1/16 - 2
2-47630508-AC-TG c.178_179delinsTG p.T60C Missense 1/16 - 1
2-47630508-ACC-CAA c.178_180delinsCAA p.T60Q Missense 1/16 - 1
2-47630508-AC-TA c.178_179delinsTA p.T60Y Missense 1/16 - 1
2-47630508-AC-TT c.178_179delinsTT p.T60F Missense 1/16 - 1
2-47630508-ACC-TGG c.178_180delinsTGG p.T60W Missense 1/16 - 1
2-47630508-A-C c.178A>C p.T60P Missense 1/16 - 2
2-47630508-AC-GT c.178_179inv p.T60V Missense 1/16 - 1
2-47630508-AC-CA c.178_179delinsCA p.T60H Missense 1/16 - 1
2-47630509-CC-TG c.179_180delinsTG p.T60M Missense 1/16 - 2
2-47630509-CC-GG c.179_180inv p.T60R Missense 1/16 - 2
2-47630509-CC-AG c.179_180delinsAG p.T60K Missense 1/16 - 1
2-47630509-C-T c.179C>T p.T60I Missense 1/16 - 2
2-47630509-C-A c.179C>A p.T60N Missense 1/16 - 2
2-47630509-C-G c.179C>G p.T60S Missense 1/16 - 2
2-47630508-A-T c.178A>T p.T60S Missense 1/16 - 2
2-47630510-C-T c.180C>T p.T60= Synonymous 1/16 - 1
2-47630510-C-G c.180C>G p.T60= Synonymous 1/16 - 1
2-47630511-C-T c.181C>T p.Q61* Nonsense 1/16 - 16
2-47630511-C-A c.181C>A p.Q61K Missense 1/16 - 8
2-47630511-C-G c.181C>G p.Q61E Missense 1/16 - 4
2-47630511-CAG-TAT c.181_183delinsTAT p.Q61Y Missense 1/16 - 1
2-47630511-CA-TG c.181_182inv p.Q61W Missense 1/16 - 1
2-47630511-CA-GT c.181_182delinsGT p.Q61V Missense 1/16 - 1
2-47630511-CA-AC c.181_182delinsAC p.Q61T Missense 1/16 - 1
2-47630511-CA-TC c.181_182delinsTC p.Q61S Missense 1/16 - 1
2-47630511-CAG-ATC c.181_183delinsATC p.Q61I Missense 1/16 - 1
2-47630511-CAG-GAC c.181_183delinsGAC p.Q61D Missense 1/16 - 1
2-47630511-CAG-TTT c.181_183delinsTTT p.Q61F Missense 1/16 - 1
2-47630511-CA-GG c.181_182delinsGG p.Q61G Missense 1/16 - 1
2-47630511-CAG-TGT c.181_183delinsTGT p.Q61C Missense 1/16 - 1
2-47630511-CAG-AAC c.181_183delinsAAC p.Q61N Missense 1/16 - 1
2-47630511-CA-AT c.181_182delinsAT p.Q61M Missense 1/16 - 1
2-47630511-CA-GC c.181_182delinsGC p.Q61A Missense 1/16 - 2
2-47630512-A-T c.182A>T p.Q61L Missense 1/16 - 4
2-47630512-A-C c.182A>C p.Q61P Missense 1/16 - 9
2-47630512-A-G c.182A>G p.Q61R Missense 1/16 - 8
2-47630512-CA-C c.182del p.Q61Rfs*3 Frameshift 1/16 - 1
2-47630513-G-T c.183G>T p.Q61H Missense 1/16 - 8
2-47630513-G-C c.183G>C p.Q61H Missense 1/16 - 7
2-47630513-AGGGGG-A c.183_187del p.Q61Hfs*19 Frameshift 1/16 - 1
2-47630514-GGG-TTT c.184_186delinsTTT p.G62F Missense 1/16 - 1
2-47630514-GGG-CAT c.184_186delinsCAT p.G62H Missense 1/16 - 1
2-47630514-GGG-TGT c.184_186delinsTGT p.G62C Missense 1/16 - 1
2-47630514-GGG-ATC c.184_186delinsATC p.G62I Missense 1/16 - 1
2-47630514-GG-AA c.184_185delinsAA p.G62K Missense 1/16 - 1
2-47630514-GGG-TAT c.184_186delinsTAT p.G62Y Missense 1/16 - 1
2-47630514-G-T c.184G>T p.G62W Missense 1/16 - 1
2-47630514-GG-AC c.184_185delinsAC p.G62T Missense 1/16 - 1
2-47630514-GGG-AGC c.184_186delinsAGC p.G62S Missense 1/16 - 1
2-47630514-G-A c.184G>A p.G62R Missense 1/16 - 3
2-47630514-G-C c.184G>C p.G62R Missense 1/16 - 4
2-47630514-GG-CA c.184_185delinsCA p.G62Q Missense 1/16 - 1
2-47630514-GG-CC c.184_185inv p.G62P Missense 1/16 - 1
2-47630514-GGG-AAC c.184_186delinsAAC p.G62N Missense 1/16 - 1
2-47630514-GG-AT c.184_185delinsAT p.G62M Missense 1/16 - 1
2-47630514-GG-CT c.184_185delinsCT p.G62L Missense 1/16 - 1
2-47630515-G-A c.185G>A p.G62E Missense 1/16 - 5
2-47630515-G-C c.185G>C p.G62A Missense 1/16 - 3
2-47630515-GG-AC c.185_186delinsAC p.G62D Missense 1/16 - 1
2-47630515-G-T c.185G>T p.G62V Missense 1/16 - 2
2-47630516-G-GTA c.186_187insTA p.V63* Nonsense 1/16 - 1
2-47630516-G-GTAA c.186_187insTAA p.G62_V63ins* InFrameInsertion 1/16 - 2
2-47630516-G-C c.186G>C p.G62= Synonymous 1/16 - 3
2-47630516-G-A c.186G>A p.G62= Synonymous 1/16 - 2
2-47630516-G-T c.186G>T p.G62= Synonymous 1/16 - 1
2-47630517-GTG-TTT c.187_189delinsTTT p.V63F Missense 1/16 - 2
2-47630512-AG-A c.187del p.V63* Frameshift 1/16 - 14
2-47630517-G-A c.187G>A p.V63M Missense 1/16 - 6
2-47630512-A-AG c.187dup p.V63Gfs*19 Frameshift 1/16 - 4
2-47630517-G-C c.187G>C p.V63L Missense 1/16 - 2
2-47630517-G-T c.187G>T p.V63L Missense 1/16 - 3
2-47630517-GT-AA c.187_188delinsAA p.V63K Missense 1/16 - 1
2-47630517-GTG-ATC c.187_189delinsATC p.V63I Missense 1/16 - 1
2-47630517-GTG-CAT c.187_189delinsCAT p.V63H Missense 1/16 - 1
2-47630517-GTG-TGT c.187_189delinsTGT p.V63C Missense 1/16 - 1
2-47630517-GT-TG c.187_188delinsTG p.V63W Missense 1/16 - 1
2-47630517-GT-AC c.187_188inv p.V63T Missense 1/16 - 1
2-47630517-GT-TC c.187_188delinsTC p.V63S Missense 1/16 - 1
2-47630517-GT-AG c.187_188delinsAG p.V63R Missense 1/16 - 1
2-47630517-GT-CA c.187_188delinsCA p.V63Q Missense 1/16 - 1
2-47630517-GT-CC c.187_188delinsCC p.V63P Missense 1/16 - 1
2-47630517-GTG-AAC c.187_189delinsAAC p.V63N Missense 1/16 - 1
2-47630517-GTG-TAT c.187_189delinsTAT p.V63Y Missense 1/16 - 1
2-47630518-T-A c.188T>A p.V63E Missense 1/16 - 3
2-47630518-T-G c.188T>G p.V63G Missense 1/16 - 4
2-47630518-TG-AC c.188_189delinsAC p.V63D Missense 1/16 - 1
2-47630518-T-C c.188T>C p.V63A Missense 1/16 - 3
2-47630519-TG-T c.189del p.I64Sfs*20 Frameshift 1/16 - 1
2-47630519-G-A c.189G>A p.V63= Synonymous 1/16 - 1
2-47630520-GA-G c.190del p.I64Sfs*20 Frameshift 1/16 - 1
2-47630520-A-T c.190A>T p.I64F Missense 1/16 - 2
2-47630520-AT-GA c.190_191delinsGA p.I64D Missense 1/16 - 1
2-47630520-AT-TG c.190_191delinsTG p.I64C Missense 1/16 - 1
2-47630520-ATC-GAG c.190_192delinsGAG p.I64E Missense 1/16 - 1
2-47630520-AT-GC c.190_191delinsGC p.I64A Missense 1/16 - 1
2-47630520-A-G c.190A>G p.I64V Missense 1/16 - 4
2-47630520-ATC-TGG c.190_192delinsTGG p.I64W Missense 1/16 - 1
2-47630520-AT-TA c.190_191delinsTA p.I64Y Missense 1/16 - 1
2-47630520-ATC-CAA c.190_192delinsCAA p.I64Q Missense 1/16 - 1
2-47630520-AT-CC c.190_191delinsCC p.I64P Missense 1/16 - 1
2-47630520-AT-CA c.190_191delinsCA p.I64H Missense 1/16 - 1
2-47630520-AT-GG c.190_191delinsGG p.I64G Missense 1/16 - 1
2-47630520-A-C c.190A>C p.I64L Missense 1/16 - 2
2-47630521-T-A c.191T>A p.I64N Missense 1/16 - 2
2-47630521-TC-GG c.191_192delinsGG p.I64R Missense 1/16 - 1
2-47630521-T-C c.191T>C p.I64T Missense 1/16 - 4
2-47630521-T-G c.191T>G p.I64S Missense 1/16 - 2
2-47630521-TC-AG c.191_192delinsAG p.I64K Missense 1/16 - 1
2-47630521-AT-A c.191del p.I64Tfs*20 Frameshift 1/16 - 2
2-47630521-T-TC c.192dup p.K65Qfs*17 Frameshift 1/16 - 3
2-47630522-C-G c.192C>G p.I64M Missense 1/16 - 3
2-47630523-A-T c.193A>T p.K65* Nonsense 1/16 - 1
2-47630523-AAG-TAT c.193_195delinsTAT p.K65Y Missense 1/16 - 1
2-47630523-AA-TG c.193_194delinsTG p.K65W Missense 1/16 - 1
2-47630523-AA-GT c.193_194delinsGT p.K65V Missense 1/16 - 1
2-47630523-AA-CT c.193_194delinsCT p.K65L Missense 1/16 - 1
2-47630523-A-C c.193A>C p.K65Q Missense 1/16 - 3
2-47630523-AA-CC c.193_194delinsCC p.K65P Missense 1/16 - 1
2-47630523-AA-GC c.193_194delinsGC p.K65A Missense 1/16 - 1
2-47630523-AAG-GAC c.193_195delinsGAC p.K65D Missense 1/16 - 1
2-47630523-A-G c.193A>G p.K65E Missense 1/16 - 2
2-47630523-AA-GG c.193_194delinsGG p.K65G Missense 1/16 - 1
2-47630523-AAG-TTT c.193_195delinsTTT p.K65F Missense 1/16 - 1
2-47630523-AAG-CAT c.193_195delinsCAT p.K65H Missense 1/16 - 1
2-47630523-AAG-TGT c.193_195delinsTGT p.K65C Missense 1/16 - 1
2-47630523-A-ATC c.193_194insTC p.K65Ifs*20 Frameshift 1/16 - 2
2-47630524-A-T c.194A>T p.K65M Missense 1/16 - 3
2-47630524-A-C c.194A>C p.K65T Missense 1/16 - 2
2-47630524-AG-GC c.194_195delinsGC p.K65S Missense 1/16 - 1
2-47630524-A-G c.194A>G p.K65R Missense 1/16 - 2
2-47630524-AG-TC c.194_195delinsTC p.K65I Missense 1/16 - 2
2-47630525-G-C c.195G>C p.K65N Missense 1/16 - 1
2-47630525-G-T c.195G>T p.K65N Missense 1/16 - 1
2-47630526-GT-G c.196del p.Y66Tfs*18 Frameshift 1/16 - 1
2-47630526-TA-GG c.196_197delinsGG p.Y66G Missense 1/16 - 1
2-47630526-T-C c.196T>C p.Y66H Missense 1/16 - 2
2-47630526-TA-GC c.196_197delinsGC p.Y66A Missense 1/16 - 2
2-47630526-T-A c.196T>A p.Y66N Missense 1/16 - 2
2-47630526-TA-CT c.196_197delinsCT p.Y66L Missense 1/16 - 1
2-47630526-TA-GT c.196_197delinsGT p.Y66V Missense 1/16 - 1
2-47630526-TAC-ATG c.196_198delinsATG p.Y66M Missense 1/16 - 1
2-47630526-TAC-AAG c.196_198delinsAAG p.Y66K Missense 1/16 - 1
2-47630526-TAC-GAG c.196_198delinsGAG p.Y66E Missense 1/16 - 1
2-47630526-TA-AT c.196_197delinsAT p.Y66I Missense 1/16 - 1
2-47630526-TA-CC c.196_197delinsCC p.Y66P Missense 1/16 - 1
2-47630526-TA-CG c.196_197delinsCG p.Y66R Missense 1/16 - 1
2-47630526-TA-AC c.196_197delinsAC p.Y66T Missense 1/16 - 1
2-47630526-TAC-CAA c.196_198delinsCAA p.Y66Q Missense 1/16 - 1
2-47630526-T-G c.196T>G p.Y66D Missense 1/16 - 1
2-47630527-A-C c.197A>C p.Y66S Missense 1/16 - 2
2-47630527-AC-GG c.197_198delinsGG p.Y66W Missense 1/16 - 1
2-47630527-A-G c.197A>G p.Y66C Missense 1/16 - 3
2-47630527-A-T c.197A>T p.Y66F Missense 1/16 - 2
2-47630528-C-T c.198C>T p.Y66= Synonymous 1/16 - 4
2-47630528-C-G c.198C>G p.Y66* Nonsense 1/16 - 1
2-47630528-C-A c.198C>A p.Y66* Nonsense 1/16 - 1
2-47630529-A-G c.199A>G p.M67V Missense 1/16 - 6
2-47630529-ATG-TAT c.199_201delinsTAT p.M67Y Missense 1/16 - 1
2-47630529-AT-TG c.199_200delinsTG p.M67W Missense 1/16 - 1
2-47630529-ATG-CAT c.199_201inv p.M67H Missense 1/16 - 1
2-47630529-AT-CA c.199_200delinsCA p.M67Q Missense 1/16 - 1
2-47630529-AT-CC c.199_200delinsCC p.M67P Missense 1/16 - 1
2-47630529-A-C c.199A>C p.M67L Missense 1/16 - 2
2-47630529-A-T c.199A>T p.M67L Missense 1/16 - 2
2-47630529-AT-GA c.199_200delinsGA p.M67E Missense 1/16 - 1
2-47630529-AT-GC c.199_200delinsGC p.M67A Missense 1/16 - 1
2-47630529-ATG-GAC c.199_201delinsGAC p.M67D Missense 1/16 - 1
2-47630529-ATG-TGT c.199_201delinsTGT p.M67C Missense 1/16 - 1
2-47630529-ATG-TTT c.199_201delinsTTT p.M67F Missense 1/16 - 1
2-47630529-AT-GG c.199_200delinsGG p.M67G Missense 1/16 - 1
2-47630530-T-C c.200T>C p.M67T Missense 1/16 - 3
2-47630530-TG-GC c.200_201delinsGC p.M67S Missense 1/16 - 1
2-47630530-T-G c.200T>G p.M67R Missense 1/16 - 2
2-47630530-T-A c.200T>A p.M67K Missense 1/16 - 4
2-47630530-TG-AC c.200_201delinsAC p.M67N Missense 1/16 - 1
2-47630531-G-C c.201G>C p.M67I Missense 1/16 - 4
2-47630531-G-A c.201G>A p.M67I Missense 1/16 - 2
2-47630531-G-T c.201G>T p.M67I Missense 1/16 - 2
2-47630532-G-A c.202G>A p.G68R Missense 1/16 - 4
2-47630532-GGG-TAT c.202_204delinsTAT p.G68Y Missense 1/16 - 1
2-47630532-G-T c.202G>T p.G68W Missense 1/16 - 2
2-47630532-GG-AC c.202_203delinsAC p.G68T Missense 1/16 - 1
2-47630532-GGG-AGC c.202_204delinsAGC p.G68S Missense 1/16 - 1
2-47630532-GGG-TGT c.202_204delinsTGT p.G68C Missense 1/16 - 1
2-47630532-GG-CA c.202_203delinsCA p.G68Q Missense 1/16 - 1
2-47630532-GG-CC c.202_203inv p.G68P Missense 1/16 - 1
2-47630532-GGG-AAC c.202_204delinsAAC p.G68N Missense 1/16 - 1
2-47630532-GGG-CAT c.202_204delinsCAT p.G68H Missense 1/16 - 1
2-47630532-GGG-TTT c.202_204delinsTTT p.G68F Missense 1/16 - 1
2-47630532-GG-AT c.202_203delinsAT p.G68M Missense 1/16 - 1
2-47630532-GG-CT c.202_203delinsCT p.G68L Missense 1/16 - 1
2-47630532-GG-AA c.202_203delinsAA p.G68K Missense 1/16 - 1
2-47630532-GGG-ATC c.202_204delinsATC p.G68I Missense 1/16 - 1
2-47630532-G-C c.202G>C p.G68R Missense 1/16 - 1
2-47630533-G-C c.203G>C p.G68A Missense 1/16 - 4
2-47630533-G-T c.203G>T p.G68V Missense 1/16 - 2
2-47630533-G-A c.203G>A p.G68E Missense 1/16 - 3
2-47630533-GG-AC c.203_204delinsAC p.G68D Missense 1/16 - 1
2-47630534-G-T c.204G>T p.G68= Synonymous 1/16 - 1
2-47630534-G-A c.204G>A p.G68= Synonymous 1/16 - 1
2-47630534-G-C c.204G>C p.G68= Synonymous 1/16 - 1
2-47630530-TG-T c.204del p.P69Rfs*15 Frameshift 1/16 - 5
2-47630535-C-A c.205C>A p.P69T Missense 1/16 - 4
2-47630535-C-G c.205C>G p.P69A Missense 1/16 - 1
2-47630535-C-T c.205C>T p.P69S Missense 1/16 - 1
2-47630533-GGCC-G c.205_207del p.P69del InFrameDeletion 1/16 - 1
2-47630536-C-T c.206C>T p.P69L Missense 1/16 - 3
2-47630536-C-A c.206C>A p.P69Q Missense 1/16 - 2
2-47630536-C-G c.206C>G p.P69R Missense 1/16 - 2
2-47630534-GC-G c.206del p.P69Rfs*15 Frameshift 1/16 - 2
2-47630530-TGGGGCCGGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCC-T c.207_211+42del - SpliceDonorDeletion 1/16 1/15 1
2-47630538-GCA-TTT c.208_210delinsTTT p.A70F Missense 1/16 - 3
2-47630538-GCA-TGT c.208_210delinsTGT p.A70C Missense 1/16 - 1
2-47630538-GC-AA c.208_209delinsAA p.A70K Missense 1/16 - 1
2-47630538-G-T c.208G>T p.A70S Missense 1/16 - 3
2-47630538-G-C c.208G>C p.A70P Missense 1/16 - 2
2-47630538-G-A c.208G>A p.A70T Missense 1/16 - 5
2-47630538-GC-AT c.208_209delinsAT p.A70I Missense 1/16 - 1
2-47630538-GCA-AAC c.208_210delinsAAC p.A70N Missense 1/16 - 1
2-47630538-GC-AG c.208_209delinsAG p.A70R Missense 1/16 - 1
2-47630538-GCA-TAT c.208_210delinsTAT p.A70Y Missense 1/16 - 1
2-47630538-GC-CT c.208_209delinsCT p.A70L Missense 1/16 - 1
2-47630538-GC-CA c.208_209delinsCA p.A70Q Missense 1/16 - 1
2-47630538-GCA-ATG c.208_210delinsATG p.A70M Missense 1/16 - 1
2-47630538-GCA-TGG c.208_210delinsTGG p.A70W Missense 1/16 - 1
2-47630538-GCA-CAT c.208_210delinsCAT p.A70H Missense 1/16 - 1
2-47630539-C-A c.209C>A p.A70E Missense 1/16 - 5
2-47630539-CA-AC c.209_210delinsAC p.A70D Missense 1/16 - 1
2-47630539-C-T c.209C>T p.A70V Missense 1/16 - 3
2-47630539-C-G c.209C>G p.A70G Missense 1/16 - 2
2-47630531-GGGGCCGGCAGGTGA-G c.209_211+11del - SpliceDonorDeletion 1/16 1/15 1
2-47630541-G-C c.211G>C p.G71R Missense 1/16 - 13
2-47630541-G-A c.211G>A p.G71R Missense 1/16 - 4
2-47630542-G-T c.211+1G>T - IntronicSNV - 1/15 3
2-47630542-G-A c.211+1G>A - IntronicSNV - 1/15 1
2-47630542-G-C c.211+1G>C - IntronicSNV - 1/15 1
2-47630540-A-AG c.211+1dup - SpliceDonorInsertion - 1/15 1
2-47630543-T-C c.211+2T>C - IntronicSNV - 1/15 1
2-47630549-C-T c.211+8C>T - IntronicSNV - 1/15 1
2-47630550-C-G c.211+9C>G - IntronicSNV - 1/15 38
2-47630550-C-A c.211+9C>A - IntronicSNV - 1/15 18
2-47630550-C-T c.211+9C>T - IntronicSNV - 1/15 18
2-47630563-G-A c.211+22G>A - IntronicSNV - 1/15 1
2-47630629-GC-G c.211+90del - IntronicDeletion - 1/15 1
2-47630639-T-C c.211+98T>C - IntronicSNV - 1/15 10
2-47630639-T-A c.211+98T>A - IntronicSNV - 1/15 3
2-47630642-G-A c.211+101G>A - IntronicSNV - 1/15 1
2-47631091-G-C c.211+550G>C - IntronicSNV - 1/15 1
2-47635062-T-G c.212-478T>G - IntronicSNV - 1/15 2
2-47635525-T-C c.212-15T>C - IntronicSNV - 1/15 1
2-47635537-A-T c.212-3A>T - IntronicSNV - 1/15 1
2-47635538-A-G c.212-2A>G - IntronicSNV - 1/15 2
2-47635539-G-A c.212-1G>A - IntronicSNV - 1/15 2
2-47635540-G-T c.212G>T p.G71V Missense 2/16 - 2
2-47635540-GA-AC c.212_213delinsAC p.G71D Missense 2/16 - 1
2-47635540-G-A c.212G>A p.G71E Missense 2/16 - 2
2-47635540-G-C c.212G>C p.G71A Missense 2/16 - 1
2-47635537-AAGG-A c.212_214del p.G71del SpliceAcceptorDeletion 2/16 - 1
2-47635538-AG-A c.212del p.G71Efs*13 Frameshift 2/16 - 1
2-47635539-GGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAA-G c.214_272del p.A72Sfs*8 SpliceAcceptorDeletion 2/16 - 2
2-47635542-G-A c.214G>A p.A72T Missense 2/16 - 7
2-47635542-GCA-TAT c.214_216delinsTAT p.A72Y Missense 2/16 - 1
2-47635542-GC-AA c.214_215delinsAA p.A72K Missense 2/16 - 1
2-47635542-GC-AT c.214_215delinsAT p.A72I Missense 2/16 - 1
2-47635542-GC-CT c.214_215delinsCT p.A72L Missense 2/16 - 1
2-47635542-GCA-TTT c.214_216delinsTTT p.A72F Missense 2/16 - 2
2-47635542-GCA-TGT c.214_216delinsTGT p.A72C Missense 2/16 - 3
2-47635542-GCA-TGG c.214_216delinsTGG p.A72W Missense 2/16 - 1
2-47635542-G-T c.214G>T p.A72S Missense 2/16 - 3
2-47635542-GCA-AAC c.214_216delinsAAC p.A72N Missense 2/16 - 1
2-47635542-GCA-ATG c.214_216delinsATG p.A72M Missense 2/16 - 1
2-47635542-GC-CA c.214_215delinsCA p.A72Q Missense 2/16 - 1
2-47635542-GC-AG c.214_215delinsAG p.A72R Missense 2/16 - 1
2-47635542-GCA-CAT c.214_216delinsCAT p.A72H Missense 2/16 - 1
2-47635542-G-C c.214G>C p.A72P Missense 2/16 - 2
2-47635543-GC-G c.215del p.A72Efs*12 Frameshift 2/16 - 1
2-47635543-C-T c.215C>T p.A72V Missense 2/16 - 5
2-47635543-C-A c.215C>A p.A72E Missense 2/16 - 2
2-47635543-CA-AC c.215_216delinsAC p.A72D Missense 2/16 - 2
2-47635543-C-G c.215C>G p.A72G Missense 2/16 - 3
2-47635544-A-C c.216A>C p.A72= Synonymous 2/16 - 2
2-47635544-A-G c.216A>G p.A72= Synonymous 2/16 - 1
2-47635544-A-T c.216A>T p.A72= Synonymous 2/16 - 1
2-47635545-A-C c.217A>C p.K73Q Missense 2/16 - 4
2-47635545-AA-CC c.217_218delinsCC p.K73P Missense 2/16 - 1
2-47635545-AAG-TAT c.217_219delinsTAT p.K73Y Missense 2/16 - 1
2-47635545-AA-TG c.217_218delinsTG p.K73W Missense 2/16 - 1
2-47635545-AAG-GAC c.217_219delinsGAC p.K73D Missense 2/16 - 1
2-47635545-AA-GT c.217_218delinsGT p.K73V Missense 2/16 - 1
2-47635545-AA-CT c.217_218delinsCT p.K73L Missense 2/16 - 1
2-47635545-AAG-CAT c.217_219delinsCAT p.K73H Missense 2/16 - 1
2-47635545-AA-GG c.217_218delinsGG p.K73G Missense 2/16 - 1
2-47635545-AA-GC c.217_218delinsGC p.K73A Missense 2/16 - 2
2-47635545-AAG-TTT c.217_219delinsTTT p.K73F Missense 2/16 - 1
2-47635545-A-G c.217A>G p.K73E Missense 2/16 - 4
2-47635545-AAG-TGT c.217_219delinsTGT p.K73C Missense 2/16 - 1
2-47635545-A-T c.217A>T p.K73* Nonsense 2/16 - 2
2-47635541-AGCAAAGAATCT-A c.217_227del p.K73Efs*5 Frameshift 2/16 - 2
2-47635546-A-G c.218A>G p.K73R Missense 2/16 - 4
2-47635546-AG-GC c.218_219delinsGC p.K73S Missense 2/16 - 1
2-47635546-A-T c.218A>T p.K73M Missense 2/16 - 2
2-47635546-AG-TC c.218_219delinsTC p.K73I Missense 2/16 - 1
2-47635546-A-C c.218A>C p.K73T Missense 2/16 - 2
2-47635547-G-C c.219G>C p.K73N Missense 2/16 - 5
2-47635547-G-T c.219G>T p.K73N Missense 2/16 - 7
2-47635547-G-A c.219G>A p.K73= Synonymous 2/16 - 2
2-47635548-A-C c.220A>C p.N74H Missense 2/16 - 7
2-47635548-A-G c.220A>G p.N74D Missense 2/16 - 3
2-47635548-AA-TT c.220_221inv p.N74F Missense 2/16 - 1
2-47635548-AAT-GAG c.220_222delinsGAG p.N74E Missense 2/16 - 1
2-47635548-AA-TG c.220_221delinsTG p.N74C Missense 2/16 - 1
2-47635548-AA-GC c.220_221delinsGC p.N74A Missense 2/16 - 1
2-47635548-AA-GT c.220_221delinsGT p.N74V Missense 2/16 - 1
2-47635548-AA-GG c.220_221delinsGG p.N74G Missense 2/16 - 1
2-47635548-A-T c.220A>T p.N74Y Missense 2/16 - 2
2-47635548-AAT-TGG c.220_222delinsTGG p.N74W Missense 2/16 - 1
2-47635548-AAT-CAA c.220_222delinsCAA p.N74Q Missense 2/16 - 1
2-47635548-AA-CT c.220_221delinsCT p.N74L Missense 2/16 - 1
2-47635548-AA-CC c.220_221delinsCC p.N74P Missense 2/16 - 1
2-47635549-A-C c.221A>C p.N74T Missense 2/16 - 2
2-47635549-A-G c.221A>G p.N74S Missense 2/16 - 2
2-47635549-AT-GG c.221_222delinsGG p.N74R Missense 2/16 - 1
2-47635549-A-T c.221A>T p.N74I Missense 2/16 - 3
2-47635549-AT-TG c.221_222delinsTG p.N74M Missense 2/16 - 1
2-47635550-T-G c.222T>G p.N74K Missense 2/16 - 3
2-47635550-T-A c.222T>A p.N74K Missense 2/16 - 4
2-47635551-CT-AA c.223_224delinsAA p.L75K Missense 2/16 - 2
2-47635550-T-TC c.223dup p.L75Pfs*7 Frameshift 2/16 - 1
2-47635551-C-A c.223C>A p.L75M Missense 2/16 - 1
2-47635551-CTG-ATC c.223_225delinsATC p.L75I Missense 2/16 - 1
2-47635551-CT-GG c.223_224delinsGG p.L75G Missense 2/16 - 1
2-47635551-CTG-TTT c.223_225delinsTTT p.L75F Missense 2/16 - 1
2-47635551-CT-GA c.223_224delinsGA p.L75E Missense 2/16 - 1
2-47635551-CTG-GAC c.223_225delinsGAC p.L75D Missense 2/16 - 1
2-47635551-CTG-TGT c.223_225delinsTGT p.L75C Missense 2/16 - 1
2-47635551-CT-GC c.223_224delinsGC p.L75A Missense 2/16 - 2
2-47635551-CTG-TAT c.223_225delinsTAT p.L75Y Missense 2/16 - 1
2-47635551-CT-TC c.223_224delinsTC p.L75S Missense 2/16 - 1
2-47635551-CTG-AAC c.223_225delinsAAC p.L75N Missense 2/16 - 1
2-47635551-CT-AC c.223_224delinsAC p.L75T Missense 2/16 - 1
2-47635551-C-G c.223C>G p.L75V Missense 2/16 - 2
2-47635551-CT-TG c.223_224delinsTG p.L75W Missense 2/16 - 1
2-47635549-ATC-A c.223_224del p.L75Afs*6 Frameshift 2/16 - 4
2-47635552-TG-AT c.224_225delinsAT p.L75H Missense 2/16 - 1
2-47635552-T-A c.224T>A p.L75Q Missense 2/16 - 2
2-47635552-T-G c.224T>G p.L75R Missense 2/16 - 2
2-47635552-T-C c.224T>C p.L75P Missense 2/16 - 2
2-47635554-C-T c.226C>T p.Q76* Nonsense 2/16 - 12
2-47635554-C-G c.226C>G p.Q76E Missense 2/16 - 3
2-47635554-CAG-TTT c.226_228delinsTTT p.Q76F Missense 2/16 - 1
2-47635554-CA-AT c.226_227delinsAT p.Q76M Missense 2/16 - 1
2-47635554-CA-GG c.226_227delinsGG p.Q76G Missense 2/16 - 1
2-47635554-CAG-AAC c.226_228delinsAAC p.Q76N Missense 2/16 - 1
2-47635554-CAG-ATC c.226_228delinsATC p.Q76I Missense 2/16 - 1
2-47635554-CA-GC c.226_227delinsGC p.Q76A Missense 2/16 - 2
2-47635554-CAG-GAC c.226_228delinsGAC p.Q76D Missense 2/16 - 1
2-47635554-CAG-TGT c.226_228delinsTGT p.Q76C Missense 2/16 - 1
2-47635554-CA-GT c.226_227delinsGT p.Q76V Missense 2/16 - 1
2-47635554-CAG-TAT c.226_228delinsTAT p.Q76Y Missense 2/16 - 1
2-47635554-C-A c.226C>A p.Q76K Missense 2/16 - 2
2-47635554-CA-AC c.226_227delinsAC p.Q76T Missense 2/16 - 1
2-47635554-CA-TG c.226_227inv p.Q76W Missense 2/16 - 1
2-47635554-CA-TC c.226_227delinsTC p.Q76S Missense 2/16 - 1
2-47635555-A-T c.227A>T p.Q76L Missense 2/16 - 2
2-47635555-A-C c.227A>C p.Q76P Missense 2/16 - 3
2-47635555-A-G c.227A>G p.Q76R Missense 2/16 - 2
2-47635556-G-T c.228G>T p.Q76H Missense 2/16 - 8
2-47635556-G-C c.228G>C p.Q76H Missense 2/16 - 4
2-47635556-G-GT c.228_229insT p.S77* Nonsense 2/16 - 1
2-47635554-CAG-C c.229_230del p.S77Cfs*4 Frameshift 2/16 - 15
2-47635557-A-G c.229A>G p.S77G Missense 2/16 - 3
2-47635557-AG-CT c.229_230inv p.S77L Missense 2/16 - 1
2-47635557-AG-GA c.229_230delinsGA p.S77D Missense 2/16 - 1
2-47635557-AG-TT c.229_230delinsTT p.S77F Missense 2/16 - 1
2-47635557-AG-CC c.229_230delinsCC p.S77P Missense 2/16 - 1
2-47635557-AGT-GAG c.229_231delinsGAG p.S77E Missense 2/16 - 1
2-47635557-A-T c.229A>T p.S77C Missense 2/16 - 2
2-47635557-AGT-CAA c.229_231delinsCAA p.S77Q Missense 2/16 - 1
2-47635557-AG-CA c.229_230delinsCA p.S77H Missense 2/16 - 1
2-47635557-AG-GC c.229_230delinsGC p.S77A Missense 2/16 - 1
2-47635557-AG-GT c.229_230delinsGT p.S77V Missense 2/16 - 1
2-47635557-AGT-TGG c.229_231delinsTGG p.S77W Missense 2/16 - 1
2-47635557-AG-TA c.229_230delinsTA p.S77Y Missense 2/16 - 1
2-47635558-AG-A c.230del p.S77Mfs*7 Frameshift 2/16 - 1
2-47635558-GT-AG c.230_231delinsAG p.S77K Missense 2/16 - 1
2-47635558-G-T c.230G>T p.S77I Missense 2/16 - 3
2-47635558-GT-TG c.230_231delinsTG p.S77M Missense 2/16 - 1
2-47635558-G-A c.230G>A p.S77N Missense 2/16 - 2
2-47635558-G-C c.230G>C p.S77T Missense 2/16 - 2
2-47635559-T-G c.231T>G p.S77R Missense 2/16 - 4
2-47635559-T-A c.231T>A p.S77R Missense 2/16 - 2
2-47635557-A-C c.229A>C p.S77R Missense 2/16 - 2
2-47635560-G-A c.232G>A p.V78I Missense 2/16 - 10
2-47635560-GT-TA c.232_233delinsTA p.V78Y Missense 2/16 - 1
2-47635560-GT-AC c.232_233inv p.V78T Missense 2/16 - 1
2-47635560-GTT-TGG c.232_234delinsTGG p.V78W Missense 2/16 - 1
2-47635560-GT-CA c.232_233delinsCA p.V78H Missense 2/16 - 1
2-47635560-G-C c.232G>C p.V78L Missense 2/16 - 2
2-47635560-GTT-ATG c.232_234delinsATG p.V78M Missense 2/16 - 1
2-47635560-GTT-AAG c.232_234delinsAAG p.V78K Missense 2/16 - 1
2-47635560-GT-TG c.232_233delinsTG p.V78C Missense 2/16 - 1
2-47635560-GT-CC c.232_233delinsCC p.V78P Missense 2/16 - 1
2-47635560-GT-AA c.232_233delinsAA p.V78N Missense 2/16 - 1
2-47635560-GT-AG c.232_233delinsAG p.V78S Missense 2/16 - 1
2-47635560-G-T c.232G>T p.V78F Missense 2/16 - 1
2-47635560-GTT-CAA c.232_234delinsCAA p.V78Q Missense 2/16 - 1
2-47635560-GT-CG c.232_233delinsCG p.V78R Missense 2/16 - 1
2-47635561-T-A c.233T>A p.V78D Missense 2/16 - 2
2-47635561-T-G c.233T>G p.V78G Missense 2/16 - 3
2-47635561-TT-AG c.233_234delinsAG p.V78E Missense 2/16 - 1
2-47635561-T-C c.233T>C p.V78A Missense 2/16 - 3
2-47635563-G-A c.235G>A p.V79M Missense 2/16 - 5
2-47635563-GTG-AAC c.235_237delinsAAC p.V79N Missense 2/16 - 1
2-47635563-G-C c.235G>C p.V79L Missense 2/16 - 2
2-47635563-G-T c.235G>T p.V79L Missense 2/16 - 2
2-47635563-GTG-TTT c.235_237delinsTTT p.V79F Missense 2/16 - 1
2-47635563-GT-AA c.235_236delinsAA p.V79K Missense 2/16 - 1
2-47635563-GTG-CAT c.235_237delinsCAT p.V79H Missense 2/16 - 1
2-47635563-GTG-ATC c.235_237delinsATC p.V79I Missense 2/16 - 1
2-47635563-GT-CC c.235_236delinsCC p.V79P Missense 2/16 - 1
2-47635563-GTG-TGT c.235_237delinsTGT p.V79C Missense 2/16 - 1
2-47635563-GT-AC c.235_236inv p.V79T Missense 2/16 - 1
2-47635563-GT-TG c.235_236delinsTG p.V79W Missense 2/16 - 1
2-47635563-GT-TC c.235_236delinsTC p.V79S Missense 2/16 - 1
2-47635563-GT-AG c.235_236delinsAG p.V79R Missense 2/16 - 1
2-47635563-GT-CA c.235_236delinsCA p.V79Q Missense 2/16 - 1
2-47635563-GTG-TAT c.235_237delinsTAT p.V79Y Missense 2/16 - 1
2-47635562-T-TG c.235dup p.V79Gfs*3 Frameshift 2/16 - 1
2-47635564-T-C c.236T>C p.V79A Missense 2/16 - 2
2-47635564-T-A c.236T>A p.V79E Missense 2/16 - 2
2-47635564-TG-AC c.236_237delinsAC p.V79D Missense 2/16 - 1
2-47635564-T-G c.236T>G p.V79G Missense 2/16 - 2
2-47635565-G-T c.237G>T p.V79= Synonymous 2/16 - 2
2-47635565-G-A c.237G>A p.V79= Synonymous 2/16 - 1
2-47635565-G-C c.237G>C p.V79= Synonymous 2/16 - 1
2-47635566-CTT-AAG c.238_240inv p.L80K Missense 2/16 - 1
2-47635566-CT-AA c.238_239delinsAA p.L80N Missense 2/16 - 1
2-47635566-C-A c.238C>A p.L80I Missense 2/16 - 2
2-47635566-CT-AG c.238_239inv p.L80S Missense 2/16 - 1
2-47635566-CTT-ATG c.238_240delinsATG p.L80M Missense 2/16 - 1
2-47635566-CT-GG c.238_239delinsGG p.L80G Missense 2/16 - 1
2-47635566-CTT-GAG c.238_240delinsGAG p.L80E Missense 2/16 - 1
2-47635566-CT-GC c.238_239delinsGC p.L80A Missense 2/16 - 1
2-47635566-C-T c.238C>T p.L80F Missense 2/16 - 2
2-47635566-CT-GA c.238_239delinsGA p.L80D Missense 2/16 - 1
2-47635566-CT-TG c.238_239delinsTG p.L80C Missense 2/16 - 1
2-47635566-CT-TA c.238_239delinsTA p.L80Y Missense 2/16 - 1
2-47635566-CT-AC c.238_239delinsAC p.L80T Missense 2/16 - 1
2-47635566-C-G c.238C>G p.L80V Missense 2/16 - 3
2-47635566-CTT-TGG c.238_240delinsTGG p.L80W Missense 2/16 - 1
2-47635567-T-A c.239T>A p.L80H Missense 2/16 - 1
2-47635567-T-C c.239T>C p.L80P Missense 2/16 - 2
2-47635567-TT-AA c.239_240inv p.L80Q Missense 2/16 - 1
2-47635567-T-G c.239T>G p.L80R Missense 2/16 - 2
2-47635569-AG-GC c.241_242delinsGC p.S81A Missense 2/16 - 1
2-47635569-AGT-TGG c.241_243delinsTGG p.S81W Missense 2/16 - 1
2-47635569-A-T c.241A>T p.S81C Missense 2/16 - 3
2-47635569-AG-TA c.241_242delinsTA p.S81Y Missense 2/16 - 1
2-47635569-A-G c.241A>G p.S81G Missense 2/16 - 2
2-47635569-AG-CT c.241_242inv p.S81L Missense 2/16 - 1
2-47635569-AG-CA c.241_242delinsCA p.S81H Missense 2/16 - 1
2-47635569-AGT-GAG c.241_243delinsGAG p.S81E Missense 2/16 - 1
2-47635569-AG-TT c.241_242delinsTT p.S81F Missense 2/16 - 1
2-47635569-AG-GA c.241_242delinsGA p.S81D Missense 2/16 - 1
2-47635569-AG-GT c.241_242delinsGT p.S81V Missense 2/16 - 1
2-47635569-AGT-CAA c.241_243delinsCAA p.S81Q Missense 2/16 - 1
2-47635569-AG-CC c.241_242delinsCC p.S81P Missense 2/16 - 1
2-47635570-G-A c.242G>A p.S81N Missense 2/16 - 3
2-47635570-G-C c.242G>C p.S81T Missense 2/16 - 3
2-47635570-GT-TG c.242_243delinsTG p.S81M Missense 2/16 - 1
2-47635570-GT-AG c.242_243delinsAG p.S81K Missense 2/16 - 1
2-47635570-G-T c.242G>T p.S81I Missense 2/16 - 4
2-47635570-G-GA c.242_243insA p.S81Rfs*2 Frameshift 2/16 - 1
2-47635571-T-G c.243T>G p.S81R Missense 2/16 - 2
2-47635571-T-A c.243T>A p.S81R Missense 2/16 - 2
2-47635569-A-C c.241A>C p.S81R Missense 2/16 - 2
2-47635571-TAAAATGAATTTTGAATCTTTTGTAAAAGAT-CTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG c.243_273delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG p.K82_D91delins* MultiAAMissense 2/16 - 3
2-47635572-AAA-TAT c.244_246delinsTAT p.K82Y Missense 2/16 - 1
2-47635572-AAA-CAT c.244_246delinsCAT p.K82H Missense 2/16 - 1
2-47635572-AAA-TGG c.244_246delinsTGG p.K82W Missense 2/16 - 1
2-47635572-AA-GG c.244_245delinsGG p.K82G Missense 2/16 - 1
2-47635572-AAA-TTT c.244_246inv p.K82F Missense 2/16 - 1
2-47635572-A-G c.244A>G p.K82E Missense 2/16 - 4
2-47635572-AAA-TGT c.244_246delinsTGT p.K82C Missense 2/16 - 1
2-47635572-AAA-GAC c.244_246delinsGAC p.K82D Missense 2/16 - 1
2-47635572-AA-CT c.244_245delinsCT p.K82L Missense 2/16 - 1
2-47635572-AA-CC c.244_245delinsCC p.K82P Missense 2/16 - 1
2-47635572-AA-GT c.244_245delinsGT p.K82V Missense 2/16 - 1
2-47635572-A-C c.244A>C p.K82Q Missense 2/16 - 2
2-47635572-AA-GC c.244_245delinsGC p.K82A Missense 2/16 - 2
2-47635572-A-T c.244A>T p.K82* Nonsense 2/16 - 6
2-47635571-T-TAATTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTAAGCGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAGGGGAGCTGAATATGTATCTGCAAGAGAGTGGATGAGGATTTGCTTTGAGCTTTTAGAGCTCTTA c.245_246insTTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTAAGCGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAGGGGAGCTGAATATGTATCTGCAAGAGAGTGGATGAGGATTTGCTTTGAGCTTTTAGAGCTCTTAAA p.K82Nfs*27 Frameshift 2/16 - 1
2-47635573-A-T c.245A>T p.K82I Missense 2/16 - 3
2-47635573-A-G c.245A>G p.K82R Missense 2/16 - 2
2-47635573-AA-TG c.245_246delinsTG p.K82M Missense 2/16 - 1
2-47635573-A-C c.245A>C p.K82T Missense 2/16 - 3
2-47635573-AA-GC c.245_246delinsGC p.K82S Missense 2/16 - 1
2-47635574-A-C c.246A>C p.K82N Missense 2/16 - 2
2-47635574-A-T c.246A>T p.K82N Missense 2/16 - 3
2-47635575-A-G c.247A>G p.M83V Missense 2/16 - 7
2-47635575-A-C c.247A>C p.M83L Missense 2/16 - 4
2-47635575-A-T c.247A>T p.M83L Missense 2/16 - 3
2-47635575-ATG-TGT c.247_249delinsTGT p.M83C Missense 2/16 - 1
2-47635575-ATG-TTT c.247_249delinsTTT p.M83F Missense 2/16 - 1
2-47635575-ATG-TAT c.247_249delinsTAT p.M83Y Missense 2/16 - 1
2-47635575-AT-TG c.247_248delinsTG p.M83W Missense 2/16 - 1
2-47635575-ATG-CAT c.247_249inv p.M83H Missense 2/16 - 1
2-47635575-AT-CC c.247_248delinsCC p.M83P Missense 2/16 - 1
2-47635575-AT-GG c.247_248delinsGG p.M83G Missense 2/16 - 1
2-47635575-AT-CA c.247_248delinsCA p.M83Q Missense 2/16 - 1
2-47635575-AT-GA c.247_248delinsGA p.M83E Missense 2/16 - 1
2-47635575-ATG-GAC c.247_249delinsGAC p.M83D Missense 2/16 - 1
2-47635575-AT-GC c.247_248delinsGC p.M83A Missense 2/16 - 1
2-47635576-T-G c.248T>G p.M83R Missense 2/16 - 2
2-47635576-TG-AC c.248_249delinsAC p.M83N Missense 2/16 - 1
2-47635576-T-A c.248T>A p.M83K Missense 2/16 - 2
2-47635576-T-C c.248T>C p.M83T Missense 2/16 - 2
2-47635576-TG-GC c.248_249delinsGC p.M83S Missense 2/16 - 1
2-47635577-G-T c.249G>T p.M83I Missense 2/16 - 8
2-47635577-G-C c.249G>C p.M83I Missense 2/16 - 2
2-47635577-G-A c.249G>A p.M83I Missense 2/16 - 2
2-47635578-A-G c.250A>G p.N84D Missense 2/16 - 2
2-47635578-AA-GC c.250_251delinsGC p.N84A Missense 2/16 - 1
2-47635578-AA-TT c.250_251inv p.N84F Missense 2/16 - 1
2-47635578-AA-TG c.250_251delinsTG p.N84C Missense 2/16 - 1
2-47635578-AAT-GAG c.250_252delinsGAG p.N84E Missense 2/16 - 1
2-47635578-AA-GG c.250_251delinsGG p.N84G Missense 2/16 - 1
2-47635578-A-C c.250A>C p.N84H Missense 2/16 - 2
2-47635578-A-T c.250A>T p.N84Y Missense 2/16 - 2
2-47635578-AAT-TGG c.250_252delinsTGG p.N84W Missense 2/16 - 1
2-47635578-AA-GT c.250_251delinsGT p.N84V Missense 2/16 - 1
2-47635578-AAT-CAA c.250_252delinsCAA p.N84Q Missense 2/16 - 1
2-47635578-AA-CC c.250_251delinsCC p.N84P Missense 2/16 - 1
2-47635578-AA-CT c.250_251delinsCT p.N84L Missense 2/16 - 1
2-47635579-A-T c.251A>T p.N84I Missense 2/16 - 4
2-47635579-A-C c.251A>C p.N84T Missense 2/16 - 2
2-47635579-A-G c.251A>G p.N84S Missense 2/16 - 2
2-47635579-AT-GG c.251_252delinsGG p.N84R Missense 2/16 - 1
2-47635579-AT-TG c.251_252delinsTG p.N84M Missense 2/16 - 1
2-47635577-GA-G c.251del p.N84Ifs*6 Frameshift 2/16 - 3
2-47635580-T-C c.252T>C p.N84= Synonymous 2/16 - 3
2-47635580-T-G c.252T>G p.N84K Missense 2/16 - 3
2-47635580-T-A c.252T>A p.N84K Missense 2/16 - 2
2-47635579-A-ATTAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGT c.253_254insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTT p.N84_F85ins* Nonsense 2/16 - 1
2-47635581-T-TAA c.253_254insAA p.F85* Nonsense 2/16 - 1
2-47635581-TT-AC c.253_254delinsAC p.F85T Missense 2/16 - 1
2-47635581-TT-CG c.253_254delinsCG p.F85R Missense 2/16 - 1
2-47635581-TT-CC c.253_254delinsCC p.F85P Missense 2/16 - 1
2-47635581-TTT-AAG c.253_255delinsAAG p.F85K Missense 2/16 - 1
2-47635581-T-C c.253T>C p.F85L Missense 2/16 - 3
2-47635583-T-A c.255T>A p.F85L Missense 2/16 - 3
2-47635583-T-G c.255T>G p.F85L Missense 2/16 - 3
2-47635581-T-A c.253T>A p.F85I Missense 2/16 - 2
2-47635581-TT-AA c.253_254inv p.F85N Missense 2/16 - 1
2-47635581-TTT-CAA c.253_255delinsCAA p.F85Q Missense 2/16 - 1
2-47635581-TTT-ATG c.253_255delinsATG p.F85M Missense 2/16 - 1
2-47635581-TT-GG c.253_254delinsGG p.F85G Missense 2/16 - 1
2-47635581-TTT-GAG c.253_255delinsGAG p.F85E Missense 2/16 - 1
2-47635581-TT-CA c.253_254delinsCA p.F85H Missense 2/16 - 1
2-47635581-TT-GA c.253_254delinsGA p.F85D Missense 2/16 - 1
2-47635581-TT-GC c.253_254delinsGC p.F85A Missense 2/16 - 1
2-47635581-T-G c.253T>G p.F85V Missense 2/16 - 2
2-47635579-ATT-A c.254_255del p.F85* Frameshift 2/16 - 1
2-47635582-T-C c.254T>C p.F85S Missense 2/16 - 2
2-47635582-TT-GG c.254_255delinsGG p.F85W Missense 2/16 - 1
2-47635582-T-A c.254T>A p.F85Y Missense 2/16 - 2
2-47635582-T-G c.254T>G p.F85C Missense 2/16 - 2
2-47635579-A-AT c.255dup p.E86* Nonsense 2/16 - 4
2-47635583-TTG-T c.255_256del p.F85Lfs*14 Frameshift 2/16 - 3
2-47635583-T-C c.255T>C p.F85= Synonymous 2/16 - 1
2-47635584-G-A c.256G>A p.E86K Missense 2/16 - 3
2-47635584-G-T c.256G>T p.E86* Nonsense 2/16 - 5
2-47635584-GA-AT c.256_257delinsAT p.E86I Missense 2/16 - 1
2-47635584-G-C c.256G>C p.E86Q Missense 2/16 - 3
2-47635584-GAA-TGG c.256_258delinsTGG p.E86W Missense 2/16 - 1
2-47635584-GAA-TTT c.256_258delinsTTT p.E86F Missense 2/16 - 1
2-47635584-GAA-TAT c.256_258delinsTAT p.E86Y Missense 2/16 - 1
2-47635584-GAA-AAC c.256_258delinsAAC p.E86N Missense 2/16 - 1
2-47635584-GA-TC c.256_257inv p.E86S Missense 2/16 - 1
2-47635584-GAA-TGT c.256_258delinsTGT p.E86C Missense 2/16 - 1
2-47635584-GA-CC c.256_257delinsCC p.E86P Missense 2/16 - 1
2-47635584-GAA-CAT c.256_258delinsCAT p.E86H Missense 2/16 - 1
2-47635584-GA-AC c.256_257delinsAC p.E86T Missense 2/16 - 1
2-47635584-GA-AG c.256_257delinsAG p.E86R Missense 2/16 - 1
2-47635584-GA-CT c.256_257delinsCT p.E86L Missense 2/16 - 1
2-47635584-GAA-ATG c.256_258delinsATG p.E86M Missense 2/16 - 1
2-47635585-A-C c.257A>C p.E86A Missense 2/16 - 3
2-47635585-A-T c.257A>T p.E86V Missense 2/16 - 2
2-47635585-A-G c.257A>G p.E86G Missense 2/16 - 2
2-47635586-A-C c.258A>C p.E86D Missense 2/16 - 3
2-47635586-A-T c.258A>T p.E86D Missense 2/16 - 3
2-47635587-TC-CG c.259_260delinsCG p.S87R Missense 2/16 - 2
2-47635587-T-C c.259T>C p.S87P Missense 2/16 - 2
2-47635587-TC-AT c.259_260delinsAT p.S87I Missense 2/16 - 1
2-47635587-TCT-ATG c.259_261delinsATG p.S87M Missense 2/16 - 1
2-47635587-TCT-GAG c.259_261delinsGAG p.S87E Missense 2/16 - 1
2-47635587-TC-GA c.259_260inv p.S87D Missense 2/16 - 1
2-47635587-TC-CA c.259_260delinsCA p.S87H Missense 2/16 - 1
2-47635587-TC-CT c.259_260delinsCT p.S87L Missense 2/16 - 2
2-47635587-T-G c.259T>G p.S87A Missense 2/16 - 2
2-47635587-TC-AA c.259_260delinsAA p.S87N Missense 2/16 - 1
2-47635587-TC-GG c.259_260delinsGG p.S87G Missense 2/16 - 1
2-47635587-TC-GT c.259_260delinsGT p.S87V Missense 2/16 - 1
2-47635587-TCT-AAG c.259_261delinsAAG p.S87K Missense 2/16 - 1
2-47635587-T-A c.259T>A p.S87T Missense 2/16 - 3
2-47635587-TCT-CAA c.259_261delinsCAA p.S87Q Missense 2/16 - 1
2-47635588-C-G c.260C>G p.S87C Missense 2/16 - 11
2-47635588-C-A c.260C>A p.S87Y Missense 2/16 - 6
2-47635588-CT-GG c.260_261delinsGG p.S87W Missense 2/16 - 1
2-47635588-C-T c.260C>T p.S87F Missense 2/16 - 2
2-47635589-T-G c.261T>G p.S87= Synonymous 2/16 - 1
2-47635589-T-C c.261T>C p.S87= Synonymous 2/16 - 1
2-47635589-T-A c.261T>A p.S87= Synonymous 2/16 - 1
2-47635590-T-A c.262T>A p.F88I Missense 2/16 - 2
2-47635590-TT-AA c.262_263inv p.F88N Missense 2/16 - 1
2-47635590-TTT-ATG c.262_264delinsATG p.F88M Missense 2/16 - 1
2-47635590-TT-CA c.262_263delinsCA p.F88H Missense 2/16 - 1
2-47635590-TT-CC c.262_263delinsCC p.F88P Missense 2/16 - 1
2-47635590-TTT-AAG c.262_264delinsAAG p.F88K Missense 2/16 - 1
2-47635590-T-C c.262T>C p.F88L Missense 2/16 - 3
2-47635592-T-A c.264T>A p.F88L Missense 2/16 - 3
2-47635592-T-G c.264T>G p.F88L Missense 2/16 - 3
2-47635590-TT-GA c.262_263delinsGA p.F88D Missense 2/16 - 1
2-47635590-TT-GG c.262_263delinsGG p.F88G Missense 2/16 - 1
2-47635590-TTT-GAG c.262_264delinsGAG p.F88E Missense 2/16 - 1
2-47635590-TT-AC c.262_263delinsAC p.F88T Missense 2/16 - 1
2-47635590-TT-CG c.262_263delinsCG p.F88R Missense 2/16 - 1
2-47635590-TTT-CAA c.262_264delinsCAA p.F88Q Missense 2/16 - 1
2-47635590-T-G c.262T>G p.F88V Missense 2/16 - 2
2-47635590-TT-GC c.262_263delinsGC p.F88A Missense 2/16 - 1
2-47635588-CTT-C c.263_264del p.F88Cfs*11 Frameshift 2/16 - 4
2-47635591-T-G c.263T>G p.F88C Missense 2/16 - 3
2-47635591-T-C c.263T>C p.F88S Missense 2/16 - 2
2-47635591-T-A c.263T>A p.F88Y Missense 2/16 - 2
2-47635591-TT-GG c.263_264delinsGG p.F88W Missense 2/16 - 1
2-47635592-T-C c.264T>C p.F88= Synonymous 2/16 - 1
2-47635588-C-CT c.264dup p.V89Cfs*11 Frameshift 2/16 - 3
2-47635593-G-T c.265G>T p.V89L Missense 2/16 - 5
2-47635593-G-C c.265G>C p.V89L Missense 2/16 - 4
2-47635593-GTA-TAT c.265_267delinsTAT p.V89Y Missense 2/16 - 1
2-47635593-GT-CC c.265_266delinsCC p.V89P Missense 2/16 - 1
2-47635593-GTA-TGG c.265_267delinsTGG p.V89W Missense 2/16 - 1
2-47635593-GT-CA c.265_266delinsCA p.V89Q Missense 2/16 - 1
2-47635593-GT-AG c.265_266delinsAG p.V89R Missense 2/16 - 1
2-47635593-GT-TC c.265_266delinsTC p.V89S Missense 2/16 - 1
2-47635593-GT-AC c.265_266inv p.V89T Missense 2/16 - 1
2-47635593-GTA-CAT c.265_267delinsCAT p.V89H Missense 2/16 - 1
2-47635593-GTA-TGT c.265_267delinsTGT p.V89C Missense 2/16 - 2
2-47635593-GTA-ATG c.265_267delinsATG p.V89M Missense 2/16 - 1
2-47635593-GTA-AAC c.265_267delinsAAC p.V89N Missense 2/16 - 1
2-47635593-G-A c.265G>A p.V89I Missense 2/16 - 3
2-47635593-GTA-TTT c.265_267delinsTTT p.V89F Missense 2/16 - 1
2-47635593-GT-AA c.265_266delinsAA p.V89K Missense 2/16 - 1
2-47635594-T-C c.266T>C p.V89A Missense 2/16 - 14
2-47635594-TA-AC c.266_267delinsAC p.V89D Missense 2/16 - 2
2-47635594-T-A c.266T>A p.V89E Missense 2/16 - 2
2-47635594-T-G c.266T>G p.V89G Missense 2/16 - 2
2-47635595-A-G c.267A>G p.V89= Synonymous 2/16 - 3
2-47635595-A-C c.267A>C p.V89= Synonymous 2/16 - 2
2-47635595-47635596---AAAGATCTTCTTCTGGTTCGTC c.269_290dup p.Y98Rfs*9 frameshift_variant 2/16 - 1
2-47635595-A-T c.267A>T p.V89= Synonymous 2/16 - 1
2-47635596-A-G c.268A>G p.K90E Missense 2/16 - 2
2-47635596-AA-GG c.268_269delinsGG p.K90G Missense 2/16 - 1
2-47635596-AAA-CAT c.268_270delinsCAT p.K90H Missense 2/16 - 1
2-47635596-AAA-GAC c.268_270delinsGAC p.K90D Missense 2/16 - 1
2-47635596-AAA-TTT c.268_270inv p.K90F Missense 2/16 - 1
2-47635596-AAA-TGT c.268_270delinsTGT p.K90C Missense 2/16 - 1
2-47635596-AA-GC c.268_269delinsGC p.K90A Missense 2/16 - 1
2-47635596-AA-CT c.268_269delinsCT p.K90L Missense 2/16 - 1
2-47635596-AA-CC c.268_269delinsCC p.K90P Missense 2/16 - 1
2-47635596-AAA-TAT c.268_270delinsTAT p.K90Y Missense 2/16 - 1
2-47635596-AAA-TGG c.268_270delinsTGG p.K90W Missense 2/16 - 1
2-47635596-AA-GT c.268_269delinsGT p.K90V Missense 2/16 - 1
2-47635596-A-C c.268A>C p.K90Q Missense 2/16 - 2
2-47635597-A-G c.269A>G p.K90R Missense 2/16 - 3
2-47635597-A-T c.269A>T p.K90I Missense 2/16 - 2
2-47635597-AA-TG c.269_270delinsTG p.K90M Missense 2/16 - 1
2-47635597-A-C c.269A>C p.K90T Missense 2/16 - 2
2-47635597-AA-GC c.269_270delinsGC p.K90S Missense 2/16 - 1
2-47635598-A-G c.270A>G p.K90= Synonymous 2/16 - 1
2-47635598-A-C c.270A>C p.K90N Missense 2/16 - 2
2-47635598-A-T c.270A>T p.K90N Missense 2/16 - 2
2-47635599-AG-A c.271del p.D91Ifs*83 Frameshift 2/16 - 1
2-47635599-G-C c.271G>C p.D91H Missense 2/16 - 4
2-47635599-GA-TT c.271_272delinsTT p.D91F Missense 2/16 - 1
2-47635599-GA-TG c.271_272delinsTG p.D91C Missense 2/16 - 1
2-47635599-GA-AT c.271_272delinsAT p.D91I Missense 2/16 - 1
2-47635599-G-T c.271G>T p.D91Y Missense 2/16 - 4
2-47635599-G-A c.271G>A p.D91N Missense 2/16 - 2
2-47635599-GAT-TGG c.271_273delinsTGG p.D91W Missense 2/16 - 1
2-47635599-GA-CG c.271_272delinsCG p.D91R Missense 2/16 - 1
2-47635599-GA-AG c.271_272delinsAG p.D91S Missense 2/16 - 1
2-47635599-GA-AC c.271_272delinsAC p.D91T Missense 2/16 - 1
2-47635599-GAT-ATG c.271_273delinsATG p.D91M Missense 2/16 - 1
2-47635599-GAT-CAA c.271_273delinsCAA p.D91Q Missense 2/16 - 1
2-47635599-GA-CT c.271_272delinsCT p.D91L Missense 2/16 - 1
2-47635599-GA-CC c.271_272delinsCC p.D91P Missense 2/16 - 1
2-47635599-GAT-AAG c.271_273delinsAAG p.D91K Missense 2/16 - 1
2-47635600-A-T c.272A>T p.D91V Missense 2/16 - 4
2-47635600-A-C c.272A>C p.D91A Missense 2/16 - 3
2-47635600-A-G c.272A>G p.D91G Missense 2/16 - 3
2-47635600-A-AT c.273dup p.L92Sfs*8 Frameshift 2/16 - 1
2-47635601-T-G c.273T>G p.D91E Missense 2/16 - 2
2-47635601-T-A c.273T>A p.D91E Missense 2/16 - 2
2-47635602-C-G c.274C>G p.L92V Missense 2/16 - 14
2-47635602-C-T c.274C>T p.L92F Missense 2/16 - 4
2-47635602-CT-TG c.274_275delinsTG p.L92C Missense 2/16 - 1
2-47635602-CTT-GAG c.274_276delinsGAG p.L92E Missense 2/16 - 1
2-47635602-CT-GG c.274_275delinsGG p.L92G Missense 2/16 - 1
2-47635602-CT-GC c.274_275delinsGC p.L92A Missense 2/16 - 1
2-47635602-CT-TA c.274_275delinsTA p.L92Y Missense 2/16 - 1
2-47635602-CTT-TGG c.274_276delinsTGG p.L92W Missense 2/16 - 1
2-47635602-CT-AA c.274_275delinsAA p.L92N Missense 2/16 - 1
2-47635602-CTT-ATG c.274_276delinsATG p.L92M Missense 2/16 - 1
2-47635602-CTT-AAG c.274_276inv p.L92K Missense 2/16 - 1
2-47635602-CT-AC c.274_275delinsAC p.L92T Missense 2/16 - 1
2-47635602-CT-GA c.274_275delinsGA p.L92D Missense 2/16 - 1
2-47635602-CT-AG c.274_275inv p.L92S Missense 2/16 - 1
2-47635602-C-A c.274C>A p.L92I Missense 2/16 - 5
2-47635603-T-C c.275T>C p.L92P Missense 2/16 - 3
2-47635603-T-G c.275T>G p.L92R Missense 2/16 - 2
2-47635603-T-A c.275T>A p.L92H Missense 2/16 - 3
2-47635603-TT-AA c.275_276inv p.L92Q Missense 2/16 - 1
2-47635605-C-T c.277C>T p.L93F Missense 2/16 - 13
2-47635605-CT-TA c.277_278delinsTA p.L93Y Missense 2/16 - 1
2-47635605-CT-AC c.277_278delinsAC p.L93T Missense 2/16 - 1
2-47635605-C-G c.277C>G p.L93V Missense 2/16 - 2
2-47635605-CT-GG c.277_278delinsGG p.L93G Missense 2/16 - 1
2-47635605-CT-AG c.277_278inv p.L93S Missense 2/16 - 1
2-47635605-CT-AA c.277_278delinsAA p.L93N Missense 2/16 - 1
2-47635605-CTT-TGG c.277_279delinsTGG p.L93W Missense 2/16 - 1
2-47635605-CTT-AAG c.277_279inv p.L93K Missense 2/16 - 1
2-47635605-CTT-ATG c.277_279delinsATG p.L93M Missense 2/16 - 1
2-47635605-CT-TG c.277_278delinsTG p.L93C Missense 2/16 - 1
2-47635605-C-A c.277C>A p.L93I Missense 2/16 - 2
2-47635605-CTT-GAG c.277_279delinsGAG p.L93E Missense 2/16 - 1
2-47635605-CT-GA c.277_278delinsGA p.L93D Missense 2/16 - 1
2-47635605-CT-GC c.277_278delinsGC p.L93A Missense 2/16 - 1
2-47635606-T-C c.278T>C p.L93P Missense 2/16 - 2
2-47635606-CTT-C c.278_279del p.L93Pfs*6 Frameshift 2/16 - 4
2-47635606-T-A c.278T>A p.L93H Missense 2/16 - 4
2-47635606-TT-AA c.278_279inv p.L93Q Missense 2/16 - 1
2-47635606-T-G c.278T>G p.L93R Missense 2/16 - 2
2-47635600-ATCT-A c.279_281del p.L94del InFrameDeletion 2/16 - 19
2-47635605-CT-C c.279del p.L94Wfs*80 Frameshift 2/16 - 1
2-47635608-TCTG-T c.280_282del p.L94del InFrameDeletion 2/16 - 3
2-47635608-C-G c.280C>G p.L94V Missense 2/16 - 6
2-47635608-CT-TC c.280_281delinsTC p.L94S Missense 2/16 - 1
2-47635608-CTG-AAC c.280_282delinsAAC p.L94N Missense 2/16 - 1
2-47635608-C-A c.280C>A p.L94M Missense 2/16 - 2
2-47635608-CTG-TAT c.280_282delinsTAT p.L94Y Missense 2/16 - 1
2-47635608-CTG-ATC c.280_282delinsATC p.L94I Missense 2/16 - 1
2-47635608-CT-AA c.280_281delinsAA p.L94K Missense 2/16 - 1
2-47635608-CT-GC c.280_281delinsGC p.L94A Missense 2/16 - 2
2-47635608-CT-GG c.280_281delinsGG p.L94G Missense 2/16 - 1
2-47635608-CT-GA c.280_281delinsGA p.L94E Missense 2/16 - 1
2-47635608-CTG-TGT c.280_282delinsTGT p.L94C Missense 2/16 - 1
2-47635608-CT-TG c.280_281delinsTG p.L94W Missense 2/16 - 1
2-47635608-CTG-TTT c.280_282delinsTTT p.L94F Missense 2/16 - 1
2-47635608-CTG-GAC c.280_282delinsGAC p.L94D Missense 2/16 - 1
2-47635608-CT-AC c.280_281delinsAC p.L94T Missense 2/16 - 1
2-47635609-T-G c.281T>G p.L94R Missense 2/16 - 2
2-47635609-T-A c.281T>A p.L94Q Missense 2/16 - 2
2-47635609-T-C c.281T>C p.L94P Missense 2/16 - 2
2-47635609-TG-AT c.281_282delinsAT p.L94H Missense 2/16 - 1
2-47635610-G-A c.282G>A p.L94= Synonymous 2/16 - 1
2-47635610-G-T c.282G>T p.L94= Synonymous 2/16 - 1
2-47635611-G-A c.283G>A p.V95I Missense 2/16 - 5
2-47635611-G-T c.283G>T p.V95F Missense 2/16 - 3
2-47635611-GT-TG c.283_284delinsTG p.V95C Missense 2/16 - 1
2-47635611-GT-TA c.283_284delinsTA p.V95Y Missense 2/16 - 1
2-47635611-GTT-TGG c.283_285delinsTGG p.V95W Missense 2/16 - 1
2-47635611-GT-AC c.283_284inv p.V95T Missense 2/16 - 1
2-47635611-GT-CA c.283_284delinsCA p.V95H Missense 2/16 - 1
2-47635611-GT-AG c.283_284delinsAG p.V95S Missense 2/16 - 1
2-47635611-GT-CG c.283_284delinsCG p.V95R Missense 2/16 - 1
2-47635611-GTT-CAA c.283_285delinsCAA p.V95Q Missense 2/16 - 1
2-47635611-GT-CC c.283_284delinsCC p.V95P Missense 2/16 - 1
2-47635611-GT-AA c.283_284delinsAA p.V95N Missense 2/16 - 1
2-47635611-GTT-ATG c.283_285delinsATG p.V95M Missense 2/16 - 1
2-47635611-G-C c.283G>C p.V95L Missense 2/16 - 2
2-47635611-GTT-AAG c.283_285delinsAAG p.V95K Missense 2/16 - 1
2-47635612-T-A c.284T>A p.V95D Missense 2/16 - 3
2-47635612-T-C c.284T>C p.V95A Missense 2/16 - 2
2-47635612-TT-AG c.284_285delinsAG p.V95E Missense 2/16 - 1
2-47635612-T-G c.284T>G p.V95G Missense 2/16 - 2
2-47635614-C-A c.286C>A p.R96S Missense 2/16 - 4
2-47635614-CGT-TGA c.286_288delinsTGA p.R96* Nonsense 2/16 - 1
2-47635614-C-T c.286C>T p.R96C Missense 2/16 - 8
2-47635614-CG-AA c.286_287delinsAA p.R96N Missense 2/16 - 1
2-47635614-CGT-ATG c.286_288delinsATG p.R96M Missense 2/16 - 1
2-47635614-CGT-AAG c.286_288delinsAAG p.R96K Missense 2/16 - 1
2-47635614-CG-AT c.286_287delinsAT p.R96I Missense 2/16 - 1
2-47635614-C-G c.286C>G p.R96G Missense 2/16 - 2
2-47635614-CG-TT c.286_287delinsTT p.R96F Missense 2/16 - 1
2-47635614-CGT-GAG c.286_288delinsGAG p.R96E Missense 2/16 - 1
2-47635614-CG-GA c.286_287delinsGA p.R96D Missense 2/16 - 1
2-47635614-CG-GC c.286_287delinsGC p.R96A Missense 2/16 - 1
2-47635614-CG-AC c.286_287delinsAC p.R96T Missense 2/16 - 1
2-47635614-CG-GT c.286_287delinsGT p.R96V Missense 2/16 - 1
2-47635614-CG-TA c.286_287delinsTA p.R96Y Missense 2/16 - 1
2-47635614-CGT-TGG c.286_288delinsTGG p.R96W Missense 2/16 - 1
2-47635615-G-A c.287G>A p.R96H Missense 2/16 - 18
2-47635615-G-T c.287G>T p.R96L Missense 2/16 - 2
2-47635615-GT-AA c.287_288delinsAA p.R96Q Missense 2/16 - 2
2-47635615-G-C c.287G>C p.R96P Missense 2/16 - 2
2-47635617-C-T c.289C>T p.Q97* Nonsense 2/16 - 14
2-47635617-C-A c.289C>A p.Q97K Missense 2/16 - 3
2-47635617-CA-GC c.289_290delinsGC p.Q97A Missense 2/16 - 2
2-47635617-CAG-TAT c.289_291delinsTAT p.Q97Y Missense 2/16 - 1
2-47635617-CA-TG c.289_290inv p.Q97W Missense 2/16 - 1
2-47635617-CA-GT c.289_290delinsGT p.Q97V Missense 2/16 - 1
2-47635617-CA-AC c.289_290delinsAC p.Q97T Missense 2/16 - 1
2-47635617-CA-TC c.289_290delinsTC p.Q97S Missense 2/16 - 1
2-47635617-CAG-TGT c.289_291delinsTGT p.Q97C Missense 2/16 - 1
2-47635617-CA-GG c.289_290delinsGG p.Q97G Missense 2/16 - 1
2-47635617-CAG-ATC c.289_291delinsATC p.Q97I Missense 2/16 - 1
2-47635617-CAG-AAC c.289_291delinsAAC p.Q97N Missense 2/16 - 1
2-47635617-CA-AT c.289_290delinsAT p.Q97M Missense 2/16 - 1
2-47635617-CAG-TTT c.289_291delinsTTT p.Q97F Missense 2/16 - 1
2-47635617-CAG-GAC c.289_291delinsGAC p.Q97D Missense 2/16 - 1
2-47635617-C-G c.289C>G p.Q97E Missense 2/16 - 4
2-47635617-TC-T c.289del p.Q97Sfs*77 Frameshift 2/16 - 2
2-47635618-A-G c.290A>G p.Q97R Missense 2/16 - 2
2-47635618-A-C c.290A>C p.Q97P Missense 2/16 - 3
2-47635618-A-T c.290A>T p.Q97L Missense 2/16 - 2
2-47635619-G-T c.291G>T p.Q97H Missense 2/16 - 2
2-47635619-G-C c.291G>C p.Q97H Missense 2/16 - 1
2-47635620-TA-GT c.292_293delinsGT p.Y98V Missense 2/16 - 1
2-47635620-TAT-GAG c.292_294delinsGAG p.Y98E Missense 2/16 - 1
2-47635620-TA-AC c.292_293delinsAC p.Y98T Missense 2/16 - 1
2-47635620-TA-CG c.292_293delinsCG p.Y98R Missense 2/16 - 2
2-47635620-TAT-CAA c.292_294delinsCAA p.Y98Q Missense 2/16 - 1
2-47635620-TA-CT c.292_293delinsCT p.Y98L Missense 2/16 - 1
2-47635620-TA-CC c.292_293delinsCC p.Y98P Missense 2/16 - 1
2-47635620-T-A c.292T>A p.Y98N Missense 2/16 - 3
2-47635620-T-C c.292T>C p.Y98H Missense 2/16 - 2
2-47635620-TAT-ATG c.292_294delinsATG p.Y98M Missense 2/16 - 1
2-47635620-TAT-AAG c.292_294delinsAAG p.Y98K Missense 2/16 - 1
2-47635620-TA-AT c.292_293delinsAT p.Y98I Missense 2/16 - 1
2-47635620-TA-GG c.292_293delinsGG p.Y98G Missense 2/16 - 1
2-47635620-T-G c.292T>G p.Y98D Missense 2/16 - 2
2-47635620-TA-GC c.292_293delinsGC p.Y98A Missense 2/16 - 2
2-47635621-A-G c.293A>G p.Y98C Missense 2/16 - 6
2-47635621-AT-GG c.293_294delinsGG p.Y98W Missense 2/16 - 1
2-47635621-A-C c.293A>C p.Y98S Missense 2/16 - 2
2-47635621-A-T c.293A>T p.Y98F Missense 2/16 - 2
2-47635622-T-A c.294T>A p.Y98* Nonsense 2/16 - 2
2-47635619-GTA-G c.294_295del p.Y98* Frameshift 2/16 - 1
2-47635623-A-C c.295A>C p.R99= Synonymous 2/16 - 3
2-47635623-A-T c.295A>T p.R99* Nonsense 2/16 - 2
2-47635623-AGA-GAC c.295_297delinsGAC p.R99D Missense 2/16 - 1
2-47635623-AGA-TAT c.295_297delinsTAT p.R99Y Missense 2/16 - 1
2-47635623-AG-GT c.295_296delinsGT p.R99V Missense 2/16 - 1
2-47635623-AGA-CAT c.295_297delinsCAT p.R99H Missense 2/16 - 1
2-47635623-AG-CT c.295_296inv p.R99L Missense 2/16 - 1
2-47635623-AGA-TGT c.295_297delinsTGT p.R99C Missense 2/16 - 2
2-47635623-AGA-TTT c.295_297delinsTTT p.R99F Missense 2/16 - 1
2-47635623-AG-GA c.295_296delinsGA p.R99E Missense 2/16 - 1
2-47635623-AG-GC c.295_296delinsGC p.R99A Missense 2/16 - 1
2-47635623-A-G c.295A>G p.R99G Missense 2/16 - 2
2-47635623-AGA-TGG c.295_297delinsTGG p.R99W Missense 2/16 - 1
2-47635623-AG-CA c.295_296delinsCA p.R99Q Missense 2/16 - 3
2-47635623-AG-CC c.295_296delinsCC p.R99P Missense 2/16 - 1
2-47635624-G-A c.296G>A p.R99K Missense 2/16 - 6
2-47635624-AG-A c.296del p.R99Kfs*75 Frameshift 2/16 - 1
2-47635624-G-T c.296G>T p.R99I Missense 2/16 - 2
2-47635624-GA-TG c.296_297delinsTG p.R99M Missense 2/16 - 1
2-47635624-G-C c.296G>C p.R99T Missense 2/16 - 2
2-47635624-GA-AC c.296_297delinsAC p.R99N Missense 2/16 - 1
2-47635622-TAG-T c.297_298del p.R99Sfs*2 Frameshift 2/16 - 1
2-47635625-A-C c.297A>C p.R99S Missense 2/16 - 2
2-47635625-A-T c.297A>T p.R99S Missense 2/16 - 3
2-47635626-G-A c.298G>A p.V100I Missense 2/16 - 6
2-47635626-G-C c.298G>C p.V100L Missense 2/16 - 2
2-47635626-GT-AC c.298_299inv p.V100T Missense 2/16 - 1
2-47635626-GT-TG c.298_299delinsTG p.V100C Missense 2/16 - 1
2-47635626-GTT-AAG c.298_300delinsAAG p.V100K Missense 2/16 - 1
2-47635626-GT-CA c.298_299delinsCA p.V100H Missense 2/16 - 1
2-47635626-GT-AA c.298_299delinsAA p.V100N Missense 2/16 - 1
2-47635626-GTT-CAA c.298_300delinsCAA p.V100Q Missense 2/16 - 1
2-47635626-G-T c.298G>T p.V100F Missense 2/16 - 2
2-47635626-GT-TA c.298_299delinsTA p.V100Y Missense 2/16 - 1
2-47635626-GT-CG c.298_299delinsCG p.V100R Missense 2/16 - 1
2-47635626-GTT-TGG c.298_300delinsTGG p.V100W Missense 2/16 - 1
2-47635626-GT-AG c.298_299delinsAG p.V100S Missense 2/16 - 1
2-47635626-GTT-ATG c.298_300delinsATG p.V100M Missense 2/16 - 1
2-47635626-GT-CC c.298_299delinsCC p.V100P Missense 2/16 - 1
2-47635626-GTT-TAA c.298_300delinsTAA p.V100* Nonsense 2/16 - 2
2-47635627-TT-AG c.299_300delinsAG p.V100E Missense 2/16 - 2
2-47635627-T-C c.299T>C p.V100A Missense 2/16 - 3
2-47635627-T-G c.299T>G p.V100G Missense 2/16 - 4
2-47635627-T-A c.299T>A p.V100D Missense 2/16 - 3
2-47635629-G-A c.301G>A p.E101K Missense 2/16 - 3
2-47635624-GAGTTGA-G c.301_306del p.E101_V102del InFrameDeletion 2/16 - 6
2-47635629-G-C c.301G>C p.E101Q Missense 2/16 - 4
2-47635629-G-T c.301G>T p.E101* Nonsense 2/16 - 6
2-47635629-GAA-ATG c.301_303delinsATG p.E101M Missense 2/16 - 1
2-47635629-GAA-TAT c.301_303delinsTAT p.E101Y Missense 2/16 - 1
2-47635629-GAA-TGG c.301_303delinsTGG p.E101W Missense 2/16 - 1
2-47635629-GA-CT c.301_302delinsCT p.E101L Missense 2/16 - 1
2-47635629-GA-AC c.301_302delinsAC p.E101T Missense 2/16 - 1
2-47635629-GA-TC c.301_302inv p.E101S Missense 2/16 - 1
2-47635629-GAA-AAC c.301_303delinsAAC p.E101N Missense 2/16 - 1
2-47635629-GAA-TTT c.301_303delinsTTT p.E101F Missense 2/16 - 1
2-47635629-GA-AT c.301_302delinsAT p.E101I Missense 2/16 - 1
2-47635629-GA-AG c.301_302delinsAG p.E101R Missense 2/16 - 1
2-47635629-GAA-CAT c.301_303delinsCAT p.E101H Missense 2/16 - 1
2-47635629-GAA-TGT c.301_303delinsTGT p.E101C Missense 2/16 - 1
2-47635629-GA-CC c.301_302delinsCC p.E101P Missense 2/16 - 1
2-47635630-A-G c.302A>G p.E101G Missense 2/16 - 2
2-47635630-A-T c.302A>T p.E101V Missense 2/16 - 2
2-47635630-A-C c.302A>C p.E101A Missense 2/16 - 3
2-47635631-A-C c.303A>C p.E101D Missense 2/16 - 2
2-47635631-A-T c.303A>T p.E101D Missense 2/16 - 2
2-47635632-G-A c.304G>A p.V102I Missense 2/16 - 15
2-47635632-GT-TG c.304_305delinsTG p.V102C Missense 2/16 - 1
2-47635632-G-T c.304G>T p.V102F Missense 2/16 - 3
2-47635632-GT-AA c.304_305delinsAA p.V102N Missense 2/16 - 1
2-47635632-GT-CC c.304_305delinsCC p.V102P Missense 2/16 - 1
2-47635632-GTT-ATG c.304_306delinsATG p.V102M Missense 2/16 - 1
2-47635632-GT-AG c.304_305delinsAG p.V102S Missense 2/16 - 1
2-47635632-GTT-AAG c.304_306delinsAAG p.V102K Missense 2/16 - 1
2-47635632-G-C c.304G>C p.V102L Missense 2/16 - 2
2-47635632-GT-CG c.304_305delinsCG p.V102R Missense 2/16 - 1
2-47635632-GTT-TGG c.304_306delinsTGG p.V102W Missense 2/16 - 1
2-47635632-GT-TA c.304_305delinsTA p.V102Y Missense 2/16 - 1
2-47635632-GTT-CAA c.304_306delinsCAA p.V102Q Missense 2/16 - 1
2-47635632-GT-CA c.304_305delinsCA p.V102H Missense 2/16 - 1
2-47635632-GT-AC c.304_305inv p.V102T Missense 2/16 - 1
2-47635633-T-A c.305T>A p.V102D Missense 2/16 - 2
2-47635633-T-C c.305T>C p.V102A Missense 2/16 - 2
2-47635633-TT-AG c.305_306delinsAG p.V102E Missense 2/16 - 1
2-47635633-T-G c.305T>G p.V102G Missense 2/16 - 2
2-47635634-T-G c.306T>G p.V102= Synonymous 2/16 - 1
2-47635635-T-C c.307T>C p.Y103H Missense 2/16 - 5
2-47635635-TA-GG c.307_308delinsGG p.Y103G Missense 2/16 - 1
2-47635635-TA-AT c.307_308delinsAT p.Y103I Missense 2/16 - 1
2-47635635-TAT-CAA c.307_309delinsCAA p.Y103Q Missense 2/16 - 1
2-47635635-TA-GT c.307_308delinsGT p.Y103V Missense 2/16 - 1
2-47635635-TA-CG c.307_308delinsCG p.Y103R Missense 2/16 - 1
2-47635635-T-G c.307T>G p.Y103D Missense 2/16 - 1
2-47635635-TAT-ATG c.307_309delinsATG p.Y103M Missense 2/16 - 1
2-47635635-TA-GC c.307_308delinsGC p.Y103A Missense 2/16 - 2
2-47635635-T-A c.307T>A p.Y103N Missense 2/16 - 2
2-47635635-TA-AC c.307_308delinsAC p.Y103T Missense 2/16 - 1
2-47635635-TAT-AAG c.307_309delinsAAG p.Y103K Missense 2/16 - 1
2-47635635-TA-CC c.307_308delinsCC p.Y103P Missense 2/16 - 1
2-47635635-TAT-GAG c.307_309delinsGAG p.Y103E Missense 2/16 - 1
2-47635635-TA-CT c.307_308delinsCT p.Y103L Missense 2/16 - 1
2-47635636-A-G c.308A>G p.Y103C Missense 2/16 - 10
2-47635636-A-T c.308A>T p.Y103F Missense 2/16 - 4
2-47635636-AT-GG c.308_309delinsGG p.Y103W Missense 2/16 - 1
2-47635636-A-C c.308A>C p.Y103S Missense 2/16 - 2
2-47635634-T-TTAA c.308_309insATA p.V102_Y103ins* InFrameInsertion 2/16 - 1
2-47635635-TATAAGAATAG-T c.309_318del p.Y103* Frameshift 2/16 - 1
2-47635637-AT-A c.309del p.Y103* Frameshift 2/16 - 2
2-47635638-AA-CT c.310_311delinsCT p.K104L Missense 2/16 - 1
2-47635638-A-C c.310A>C p.K104Q Missense 2/16 - 2
2-47635638-AA-CC c.310_311delinsCC p.K104P Missense 2/16 - 1
2-47635638-AA-GT c.310_311delinsGT p.K104V Missense 2/16 - 1
2-47635638-AA-TG c.310_311delinsTG p.K104W Missense 2/16 - 1
2-47635638-AAG-TAT c.310_312delinsTAT p.K104Y Missense 2/16 - 1
2-47635638-AA-GG c.310_311delinsGG p.K104G Missense 2/16 - 1
2-47635638-A-G c.310A>G p.K104E Missense 2/16 - 2
2-47635638-AAG-GAC c.310_312delinsGAC p.K104D Missense 2/16 - 1
2-47635638-AA-GC c.310_311delinsGC p.K104A Missense 2/16 - 1
2-47635638-AAG-TTT c.310_312delinsTTT p.K104F Missense 2/16 - 1
2-47635638-AAG-CAT c.310_312delinsCAT p.K104H Missense 2/16 - 1
2-47635638-AAG-TGT c.310_312delinsTGT p.K104C Missense 2/16 - 1
2-47635638-A-T c.310A>T p.K104* Nonsense 2/16 - 2
2-47635637-TA-T c.311del p.K104Rfs*70 Frameshift 2/16 - 1
2-47635639-A-C c.311A>C p.K104T Missense 2/16 - 4
2-47635639-AG-GC c.311_312delinsGC p.K104S Missense 2/16 - 1
2-47635639-A-G c.311A>G p.K104R Missense 2/16 - 2
2-47635639-A-T c.311A>T p.K104M Missense 2/16 - 1
2-47635639-AG-TC c.311_312delinsTC p.K104I Missense 2/16 - 1
2-47635637-T-TA c.311dup p.N105Efs*2 Frameshift 2/16 - 1
2-47635640-G-T c.312G>T p.K104N Missense 2/16 - 3
2-47635640-G-C c.312G>C p.K104N Missense 2/16 - 3
2-47635641-A-T c.313A>T p.N105Y Missense 2/16 - 2
2-47635641-AAT-TGG c.313_315delinsTGG p.N105W Missense 2/16 - 1
2-47635641-AA-GT c.313_314delinsGT p.N105V Missense 2/16 - 1
2-47635641-AAT-CAA c.313_315delinsCAA p.N105Q Missense 2/16 - 1
2-47635641-AA-CC c.313_314delinsCC p.N105P Missense 2/16 - 1
2-47635641-A-G c.313A>G p.N105D Missense 2/16 - 2
2-47635641-AAT-GAG c.313_315delinsGAG p.N105E Missense 2/16 - 1
2-47635641-AA-CT c.313_314delinsCT p.N105L Missense 2/16 - 1
2-47635641-AA-GC c.313_314delinsGC p.N105A Missense 2/16 - 1
2-47635641-AA-TT c.313_314inv p.N105F Missense 2/16 - 1
2-47635641-A-C c.313A>C p.N105H Missense 2/16 - 3
2-47635641-AA-TG c.313_314delinsTG p.N105C Missense 2/16 - 1
2-47635641-AA-GG c.313_314delinsGG p.N105G Missense 2/16 - 1
2-47635642-A-G c.314A>G p.N105S Missense 2/16 - 4
2-47635642-A-C c.314A>C p.N105T Missense 2/16 - 2
2-47635642-AT-GG c.314_315delinsGG p.N105R Missense 2/16 - 1
2-47635642-AT-TG c.314_315delinsTG p.N105M Missense 2/16 - 1
2-47635642-A-T c.314A>T p.N105I Missense 2/16 - 2
2-47635643-T-G c.315T>G p.N105K Missense 2/16 - 2
2-47635643-T-A c.315T>A p.N105K Missense 2/16 - 2
2-47635643-T-C c.315T>C p.N105= Synonymous 2/16 - 1
2-47635644-A-G c.316A>G p.R106G Missense 2/16 - 4
2-47635644-AG-CT c.316_317inv p.R106L Missense 2/16 - 1
2-47635644-AGA-CAT c.316_318delinsCAT p.R106H Missense 2/16 - 1
2-47635644-AGA-TTT c.316_318delinsTTT p.R106F Missense 2/16 - 1
2-47635644-AG-GA c.316_317delinsGA p.R106E Missense 2/16 - 1
2-47635644-AGA-GAC c.316_318delinsGAC p.R106D Missense 2/16 - 1
2-47635644-AGA-TGT c.316_318delinsTGT p.R106C Missense 2/16 - 1
2-47635644-AG-GC c.316_317delinsGC p.R106A Missense 2/16 - 1
2-47635644-AG-CA c.316_317delinsCA p.R106Q Missense 2/16 - 1
2-47635644-AG-CC c.316_317delinsCC p.R106P Missense 2/16 - 1
2-47635644-AGA-TAT c.316_318delinsTAT p.R106Y Missense 2/16 - 1
2-47635644-AGA-TGG c.316_318delinsTGG p.R106W Missense 2/16 - 2
2-47635644-AG-GT c.316_317delinsGT p.R106V Missense 2/16 - 1
2-47635645-G-A c.317G>A p.R106K Missense 2/16 - 17
2-47635645-GA-TG c.317_318delinsTG p.R106M Missense 2/16 - 1
2-47635645-G-T c.317G>T p.R106I Missense 2/16 - 2
2-47635645-G-C c.317G>C p.R106T Missense 2/16 - 5
2-47635645-GA-AC c.317_318delinsAC p.R106N Missense 2/16 - 1
2-47635646-A-C c.318A>C p.R106S Missense 2/16 - 2
2-47635646-A-T c.318A>T p.R106S Missense 2/16 - 2
2-47635647-G-A c.319G>A p.A107T Missense 2/16 - 5
2-47635647-GCT-ATG c.319_321delinsATG p.A107M Missense 2/16 - 1
2-47635647-GC-CT c.319_320delinsCT p.A107L Missense 2/16 - 1
2-47635647-GCT-AAG c.319_321delinsAAG p.A107K Missense 2/16 - 1
2-47635647-GC-AT c.319_320delinsAT p.A107I Missense 2/16 - 1
2-47635647-GC-CA c.319_320delinsCA p.A107H Missense 2/16 - 1
2-47635647-GC-TT c.319_320delinsTT p.A107F Missense 2/16 - 1
2-47635647-GC-AA c.319_320delinsAA p.A107N Missense 2/16 - 1
2-47635647-GC-TG c.319_320delinsTG p.A107C Missense 2/16 - 1
2-47635647-GC-TA c.319_320delinsTA p.A107Y Missense 2/16 - 1
2-47635647-GCT-CAA c.319_321delinsCAA p.A107Q Missense 2/16 - 1
2-47635647-G-T c.319G>T p.A107S Missense 2/16 - 2
2-47635647-GCT-TGG c.319_321delinsTGG p.A107W Missense 2/16 - 1
2-47635647-GC-CG c.319_320delinsCG p.A107R Missense 2/16 - 1
2-47635647-G-C c.319G>C p.A107P Missense 2/16 - 7
2-47635648-C-T c.320C>T p.A107V Missense 2/16 - 5
2-47635648-C-G c.320C>G p.A107G Missense 2/16 - 3
2-47635648-CT-AG c.320_321inv p.A107E Missense 2/16 - 1
2-47635648-C-A c.320C>A p.A107D Missense 2/16 - 3
2-47635649-CT-C c.321del p.G108Efs*66 Frameshift 2/16 - 2
2-47635650-GGA-AGC c.322_324delinsAGC p.G108S Missense 2/16 - 2
2-47635650-G-A c.322G>A p.G108R Missense 2/16 - 1
2-47635650-G-C c.322G>C p.G108R Missense 2/16 - 1
2-47635651-GA-AC c.323_324delinsAC p.G108D Missense 2/16 - 2
2-47635651-G-C c.323G>C p.G108A Missense 2/16 - 2
2-47635651-G-A c.323G>A p.G108E Missense 2/16 - 3
2-47635651-G-T c.323G>T p.G108V Missense 2/16 - 3
2-47635652-A-T c.324A>T p.G108= Synonymous 2/16 - 1
2-47635652-A-G c.324A>G p.G108= Synonymous 2/16 - 1
2-47635652-A-C c.324A>C p.G108= Synonymous 2/16 - 1
2-47635653-A-C c.325A>C p.N109H Missense 2/16 - 2
2-47635653-A-G c.325A>G p.N109D Missense 2/16 - 1
2-47635653-A-T c.325A>T p.N109Y Missense 2/16 - 1
2-47635654-A-C c.326A>C p.N109T Missense 2/16 - 2
2-47635654-A-G c.326A>G p.N109S Missense 2/16 - 3
2-47635654-A-T c.326A>T p.N109I Missense 2/16 - 1
2-47635651-GA-G c.326del p.N109Ifs*65 Frameshift 2/16 - 1
2-47635655-T-G c.327T>G p.N109K Missense 2/16 - 2
2-47635655-T-A c.327T>A p.N109K Missense 2/16 - 1
2-47635656-A-C c.328A>C p.K110Q Missense 2/16 - 6
2-47635656-A-G c.328A>G p.K110E Missense 2/16 - 1
2-47635657-A-G c.329A>G p.K110R Missense 2/16 - 3
2-47635657-A-C c.329A>C p.K110T Missense 2/16 - 6
2-47635657-A-T c.329A>T p.K110M Missense 2/16 - 2
2-47635655-TA-T c.329del p.K110Rfs*64 Frameshift 2/16 - 1
2-47635658-G-C c.330G>C p.K110N Missense 2/16 - 2
2-47635658-G-T c.330G>T p.K110N Missense 2/16 - 1
2-47635659-G-A c.331G>A p.A111T Missense 2/16 - 2
2-47635659-G-C c.331G>C p.A111P Missense 2/16 - 2
2-47635659-G-T c.331G>T p.A111S Missense 2/16 - 1
2-47635660-C-T c.332C>T p.A111V Missense 2/16 - 5
2-47635660-C-A c.332C>A p.A111E Missense 2/16 - 2
2-47635660-C-G c.332C>G p.A111G Missense 2/16 - 1
2-47635662-T-A c.334T>A p.S112T Missense 2/16 - 1
2-47635662-T-C c.334T>C p.S112P Missense 2/16 - 1
2-47635662-T-G c.334T>G p.S112A Missense 2/16 - 1
2-47635662-TC-CT c.334_335delinsCT p.S112L Missense 2/16 - 1
2-47635663-C-T c.335C>T p.S112F Missense 2/16 - 7
2-47635663-C-G c.335C>G p.S112C Missense 2/16 - 4
2-47635663-C-A c.335C>A p.S112Y Missense 2/16 - 1
2-47635664-C-A c.336C>A p.S112= Synonymous 2/16 - 5
2-47635664-C-CTCTTG c.336_337insTCTTG p.K113Sfs*2 Frameshift 2/16 - 1
2-47635664-C-T c.336C>T p.S112= Synonymous 2/16 - 1
2-47635665-A-ATTAGCTGGGACCAC c.337_338insTTAGCTGGGACCAC p.K113Ifs*66 Frameshift 2/16 - 1
2-47635665-A-C c.337A>C p.K113Q Missense 2/16 - 1
2-47635666-A-C c.338A>C p.K113T Missense 2/16 - 1
2-47635666-A-G c.338A>G p.K113R Missense 2/16 - 1
2-47635666-A-T c.338A>T p.K113M Missense 2/16 - 1
2-47635667-G-A c.339G>A p.K113= Synonymous 2/16 - 14
2-47635667-AGG-A c.339_340del p.N115* Frameshift 2/16 - 1
2-47635667-G-C c.339G>C p.K113N Missense 2/16 - 3
2-47635667-G-T c.339G>T p.K113N Missense 2/16 - 1
2-47635666-AG-A c.340del p.E114Rfs*60 Frameshift 2/16 - 2
2-47635668-G-A c.340G>A p.E114K Missense 2/16 - 2
2-47635668-G-T c.340G>T p.E114* Nonsense 2/16 - 3
2-47635668-G-C c.340G>C p.E114Q Missense 2/16 - 1
2-47635669-A-C c.341A>C p.E114A Missense 2/16 - 1
2-47635669-A-G c.341A>G p.E114G Missense 2/16 - 1
2-47635669-A-T c.341A>T p.E114V Missense 2/16 - 1
2-47635670-G-C c.342G>C p.E114D Missense 2/16 - 1
2-47635670-G-T c.342G>T p.E114D Missense 2/16 - 1
2-47635671-AA-GC c.343_344delinsGC p.N115A Missense 2/16 - 1
2-47635671-AA-TG c.343_344delinsTG p.N115C Missense 2/16 - 1
2-47635671-AAT-CAA c.343_345delinsCAA p.N115Q Missense 2/16 - 1
2-47635671-AA-CC c.343_344delinsCC p.N115P Missense 2/16 - 1
2-47635671-AAT-GAG c.343_345delinsGAG p.N115E Missense 2/16 - 1
2-47635671-AA-GT c.343_344delinsGT p.N115V Missense 2/16 - 1
2-47635671-A-T c.343A>T p.N115Y Missense 2/16 - 3
2-47635671-AA-CT c.343_344delinsCT p.N115L Missense 2/16 - 1
2-47635671-AA-TT c.343_344inv p.N115F Missense 2/16 - 1
2-47635671-AAT-TGG c.343_345delinsTGG p.N115W Missense 2/16 - 1
2-47635671-A-C c.343A>C p.N115H Missense 2/16 - 2
2-47635671-A-G c.343A>G p.N115D Missense 2/16 - 4
2-47635671-AA-GG c.343_344delinsGG p.N115G Missense 2/16 - 1
2-47635670-GA-G c.344del p.N115Mfs*59 Frameshift 2/16 - 4
2-47635672-A-G c.344A>G p.N115S Missense 2/16 - 4
2-47635672-AT-TG c.344_345delinsTG p.N115M Missense 2/16 - 2
2-47635672-AT-GG c.344_345delinsGG p.N115R Missense 2/16 - 1
2-47635672-A-T c.344A>T p.N115I Missense 2/16 - 2
2-47635672-A-C c.344A>C p.N115T Missense 2/16 - 2
2-47635673-T-G c.345T>G p.N115K Missense 2/16 - 2
2-47635673-T-A c.345T>A p.N115K Missense 2/16 - 2
2-47635674-G-A c.346G>A p.D116N Missense 2/16 - 4
2-47635674-GAT-AAG c.346_348delinsAAG p.D116K Missense 2/16 - 1
2-47635674-GA-CG c.346_347delinsCG p.D116R Missense 2/16 - 1
2-47635674-GA-CC c.346_347delinsCC p.D116P Missense 2/16 - 1
2-47635674-GA-CT c.346_347delinsCT p.D116L Missense 2/16 - 1
2-47635674-GA-AC c.346_347delinsAC p.D116T Missense 2/16 - 1
2-47635674-GAT-TGG c.346_348delinsTGG p.D116W Missense 2/16 - 1
2-47635674-GAT-CAA c.346_348delinsCAA p.D116Q Missense 2/16 - 1
2-47635674-G-T c.346G>T p.D116Y Missense 2/16 - 2
2-47635674-GAT-ATG c.346_348delinsATG p.D116M Missense 2/16 - 1
2-47635674-GA-AG c.346_347delinsAG p.D116S Missense 2/16 - 1
2-47635674-GA-TG c.346_347delinsTG p.D116C Missense 2/16 - 1
2-47635674-G-C c.346G>C p.D116H Missense 2/16 - 2
2-47635674-GA-TT c.346_347delinsTT p.D116F Missense 2/16 - 1
2-47635674-GA-AT c.346_347delinsAT p.D116I Missense 2/16 - 1
2-47635672-ATGAT-A c.347_350del p.D116Gfs*57 Frameshift 2/16 - 4
2-47635675-A-G c.347A>G p.D116G Missense 2/16 - 4
2-47635675-A-T c.347A>T p.D116V Missense 2/16 - 3
2-47635675-A-C c.347A>C p.D116A Missense 2/16 - 2
2-47635676-T-G c.348T>G p.D116E Missense 2/16 - 3
2-47635676-T-A c.348T>A p.D116E Missense 2/16 - 4
2-47635677-TGG-ATC c.349_351delinsATC p.W117I Missense 2/16 - 1
2-47635677-T-G c.349T>G p.W117G Missense 2/16 - 3
2-47635677-TG-AT c.349_350delinsAT p.W117M Missense 2/16 - 1
2-47635677-TGG-GAC c.349_351delinsGAC p.W117D Missense 2/16 - 1
2-47635677-TG-GA c.349_350delinsGA p.W117E Missense 2/16 - 1
2-47635677-TG-CC c.349_350delinsCC p.W117P Missense 2/16 - 1
2-47635677-TG-GC c.349_350delinsGC p.W117A Missense 2/16 - 2
2-47635677-TG-GT c.349_350delinsGT p.W117V Missense 2/16 - 1
2-47635677-TG-AC c.349_350delinsAC p.W117T Missense 2/16 - 1
2-47635677-T-A c.349T>A p.W117R Missense 2/16 - 2
2-47635677-T-C c.349T>C p.W117R Missense 2/16 - 2
2-47635677-TG-CA c.349_350inv p.W117Q Missense 2/16 - 1
2-47635677-TGG-AAC c.349_351delinsAAC p.W117N Missense 2/16 - 1
2-47635677-TG-AA c.349_350delinsAA p.W117K Missense 2/16 - 1
2-47635677-TGG-CAT c.349_351delinsCAT p.W117H Missense 2/16 - 1
2-47635678-G-A c.350G>A p.W117* Nonsense 2/16 - 6
2-47635678-GG-TT c.350_351delinsTT p.W117F Missense 2/16 - 1
2-47635678-GG-AT c.350_351delinsAT p.W117Y Missense 2/16 - 1
2-47635678-G-T c.350G>T p.W117L Missense 2/16 - 3
2-47635678-G-C c.350G>C p.W117S Missense 2/16 - 3
2-47635679-G-A c.351G>A p.W117* Nonsense 2/16 - 5
2-47635679-G-T c.351G>T p.W117C Missense 2/16 - 1
2-47635679-G-C c.351G>C p.W117C Missense 2/16 - 1
2-47635680-TA-CT c.352_353delinsCT p.Y118L Missense 2/16 - 2
2-47635680-TAT-AAG c.352_354delinsAAG p.Y118K Missense 2/16 - 1
2-47635680-TA-AT c.352_353delinsAT p.Y118I Missense 2/16 - 1
2-47635680-T-C c.352T>C p.Y118H Missense 2/16 - 4
2-47635680-TA-GG c.352_353delinsGG p.Y118G Missense 2/16 - 1
2-47635680-TAT-GAG c.352_354delinsGAG p.Y118E Missense 2/16 - 1
2-47635680-T-G c.352T>G p.Y118D Missense 2/16 - 2
2-47635680-TA-GC c.352_353delinsGC p.Y118A Missense 2/16 - 1
2-47635680-TAT-ATG c.352_354delinsATG p.Y118M Missense 2/16 - 1
2-47635680-T-A c.352T>A p.Y118N Missense 2/16 - 2
2-47635680-TA-CC c.352_353delinsCC p.Y118P Missense 2/16 - 1
2-47635680-TAT-CAA c.352_354delinsCAA p.Y118Q Missense 2/16 - 1
2-47635680-TA-CG c.352_353delinsCG p.Y118R Missense 2/16 - 1
2-47635680-TA-GT c.352_353delinsGT p.Y118V Missense 2/16 - 1
2-47635680-TA-AC c.352_353delinsAC p.Y118T Missense 2/16 - 1
2-47635679-G-GT c.352dup p.Y118Lfs*5 Frameshift 2/16 - 4
2-47635675-ATTGGTAT-A c.352_358del p.Y118Hfs*54 Frameshift 2/16 - 2
2-47635681-A-T c.353A>T p.Y118F Missense 2/16 - 2
2-47635681-A-G c.353A>G p.Y118C Missense 2/16 - 4
2-47635681-AT-GG c.353_354delinsGG p.Y118W Missense 2/16 - 1
2-47635681-A-C c.353A>C p.Y118S Missense 2/16 - 2
2-47635682-T-G c.354T>G p.Y118* Nonsense 2/16 - 2
2-47635683-T-G c.355T>G p.L119V Missense 2/16 - 2
2-47635683-TT-AC c.355_356delinsAC p.L119T Missense 2/16 - 1
2-47635683-TT-AG c.355_356delinsAG p.L119R Missense 2/16 - 1
2-47635683-TT-CA c.355_356delinsCA p.L119Q Missense 2/16 - 1
2-47635683-TT-CC c.355_356delinsCC p.L119P Missense 2/16 - 1
2-47635683-TTG-AAC c.355_357delinsAAC p.L119N Missense 2/16 - 1
2-47635683-T-A c.355T>A p.L119M Missense 2/16 - 2
2-47635683-TT-AA c.355_356inv p.L119K Missense 2/16 - 1
2-47635683-TTG-ATC c.355_357delinsATC p.L119I Missense 2/16 - 1
2-47635683-TTG-CAT c.355_357delinsCAT p.L119H Missense 2/16 - 1
2-47635683-TT-GG c.355_356delinsGG p.L119G Missense 2/16 - 1
2-47635683-TT-GA c.355_356delinsGA p.L119E Missense 2/16 - 1
2-47635683-TTG-GAC c.355_357delinsGAC p.L119D Missense 2/16 - 1
2-47635683-TT-GC c.355_356delinsGC p.L119A Missense 2/16 - 1
2-47635684-T-C c.356T>C p.L119S Missense 2/16 - 2
2-47635684-TG-GT c.356_357delinsGT p.L119C Missense 2/16 - 1
2-47635684-TG-AT c.356_357delinsAT p.L119Y Missense 2/16 - 1
2-47635684-T-G c.356T>G p.L119W Missense 2/16 - 2
2-47635684-T-A c.356T>A p.L119* Nonsense 2/16 - 1
2-47635685-G-T c.357G>T p.L119F Missense 2/16 - 2
2-47635685-G-C c.357G>C p.L119F Missense 2/16 - 2
2-47635686-G-A c.358G>A p.A120T Missense 2/16 - 4
2-47635686-GCA-TGT c.358_360delinsTGT p.A120C Missense 2/16 - 1
2-47635686-G-T c.358G>T p.A120S Missense 2/16 - 3
2-47635686-GCA-ATG c.358_360delinsATG p.A120M Missense 2/16 - 1
2-47635686-GCA-AAC c.358_360delinsAAC p.A120N Missense 2/16 - 1
2-47635686-GCA-TGG c.358_360delinsTGG p.A120W Missense 2/16 - 1
2-47635686-GCA-CAT c.358_360delinsCAT p.A120H Missense 2/16 - 1
2-47635686-GC-CT c.358_359delinsCT p.A120L Missense 2/16 - 1
2-47635686-GC-AG c.358_359delinsAG p.A120R Missense 2/16 - 1
2-47635686-G-C c.358G>C p.A120P Missense 2/16 - 2
2-47635686-GC-CA c.358_359delinsCA p.A120Q Missense 2/16 - 1
2-47635686-GCA-TTT c.358_360delinsTTT p.A120F Missense 2/16 - 1
2-47635686-GC-AT c.358_359delinsAT p.A120I Missense 2/16 - 1
2-47635686-GC-AA c.358_359delinsAA p.A120K Missense 2/16 - 1
2-47635686-GCA-TAT c.358_360delinsTAT p.A120Y Missense 2/16 - 1
2-47635687-C-G c.359C>G p.A120G Missense 2/16 - 2
2-47635687-C-A c.359C>A p.A120E Missense 2/16 - 3
2-47635687-C-T c.359C>T p.A120V Missense 2/16 - 2
2-47635687-CA-AC c.359_360delinsAC p.A120D Missense 2/16 - 1
2-47635688-A-C c.360A>C p.A120= Synonymous 2/16 - 1
2-47635688-A-G c.360A>G p.A120= Synonymous 2/16 - 1
2-47635689-TA-CC c.361_362delinsCC p.Y121P Missense 2/16 - 1
2-47635689-TA-CG c.361_362delinsCG p.Y121R Missense 2/16 - 1
2-47635689-TA-GC c.361_362delinsGC p.Y121A Missense 2/16 - 2
2-47635689-TA-GG c.361_362delinsGG p.Y121G Missense 2/16 - 1
2-47635689-TAT-AAG c.361_363delinsAAG p.Y121K Missense 2/16 - 1
2-47635689-TA-GT c.361_362delinsGT p.Y121V Missense 2/16 - 1
2-47635689-TA-AC c.361_362delinsAC p.Y121T Missense 2/16 - 1
2-47635689-T-G c.361T>G p.Y121D Missense 2/16 - 1
2-47635689-TAT-CAA c.361_363delinsCAA p.Y121Q Missense 2/16 - 1
2-47635689-T-A c.361T>A p.Y121N Missense 2/16 - 4
2-47635689-TA-CT c.361_362delinsCT p.Y121L Missense 2/16 - 2
2-47635689-TAT-ATG c.361_363delinsATG p.Y121M Missense 2/16 - 1
2-47635689-T-C c.361T>C p.Y121H Missense 2/16 - 2
2-47635689-TA-AT c.361_362delinsAT p.Y121I Missense 2/16 - 1
2-47635689-TAT-GAG c.361_363delinsGAG p.Y121E Missense 2/16 - 1
2-47635690-A-G c.362A>G p.Y121C Missense 2/16 - 8
2-47635690-TA-T c.362del p.Y121Lfs*53 Frameshift 2/16 - 3
2-47635690-A-T c.362A>T p.Y121F Missense 2/16 - 3
2-47635690-AT-GG c.362_363delinsGG p.Y121W Missense 2/16 - 1
2-47635690-A-C c.362A>C p.Y121S Missense 2/16 - 3
2-47635690-TATAA-T c.362_365del p.Y121Wfs*52 SpliceDonorDeletion 2/16 - 1
2-47635691-T-G c.363T>G p.Y121* Nonsense 2/16 - 6
2-47635691-AT-A c.363del p.Y121* Frameshift 2/16 - 1
2-47635692-A-C c.364A>C p.K122Q Missense 2/16 - 3
2-47635692-AAG-TTT c.364_366delinsTTT p.K122F Missense 2/16 - 1
2-47635692-AA-GG c.364_365delinsGG p.K122G Missense 2/16 - 1
2-47635692-AAG-TGT c.364_366delinsTGT p.K122C Missense 2/16 - 1
2-47635692-AAG-GAC c.364_366delinsGAC p.K122D Missense 2/16 - 1
2-47635692-AA-GC c.364_365delinsGC p.K122A Missense 2/16 - 1
2-47635692-AA-GT c.364_365delinsGT p.K122V Missense 2/16 - 1
2-47635692-AA-CT c.364_365delinsCT p.K122L Missense 2/16 - 1
2-47635692-AA-TG c.364_365delinsTG p.K122W Missense 2/16 - 1
2-47635692-AA-CC c.364_365delinsCC p.K122P Missense 2/16 - 1
2-47635692-A-G c.364A>G p.K122E Missense 2/16 - 2
2-47635692-AAG-CAT c.364_366delinsCAT p.K122H Missense 2/16 - 1
2-47635692-AAG-TAT c.364_366delinsTAT p.K122Y Missense 2/16 - 1
2-47635692-TAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATG-T c.364_366+56del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/16 2/15 1
2-47635693-A-G c.365A>G p.K122R Missense 2/16 - 2
2-47635693-A-T c.365A>T p.K122M Missense 2/16 - 3
2-47635693-A-C c.365A>C p.K122T Missense 2/16 - 2
2-47635693-AG-GC c.365_366delinsGC p.K122S Missense 2/16 - 1
2-47635693-AG-TC c.365_366delinsTC p.K122I Missense 2/16 - 1
2-47635691-T-TA c.365dup p.A123Gfs*10 SpliceDonorInsertion 2/16 - 1
2-47635693-A-CGG c.365delinsCGG p.K122Tfs*53 Frameshift 2/16 - 2
2-47635694-G-T c.366G>T p.K122N Missense 2/16 - 3
2-47635694-G-C c.366G>C p.K122N Missense 2/16 - 2
2-47635695-G-A c.366+1G>A - IntronicSNV - 2/15 8
2-47635695-G-T c.366+1G>T - IntronicSNV - 2/15 5
2-47635696-T-G c.366+2T>G - IntronicSNV - 2/15 1
2-47635696-T-C c.366+2T>C - IntronicSNV - 2/15 2
2-47635697-A-G c.366+3A>G - IntronicSNV - 2/15 3
2-47635713-A-T c.366+19A>T - IntronicSNV - 2/15 1
2-47637065-C-T c.367-168C>T - IntronicSNV - 2/15 2
2-47637125-A-C c.367-108A>C - IntronicSNV - 2/15 1
2-47637125-A-G c.367-108A>G - IntronicSNV - 2/15 1
2-47637147-A-C c.367-86A>C - IntronicSNV - 2/15 3
2-47637147-A-T c.367-86A>T - IntronicSNV - 2/15 3
2-47637232-G-A c.367-1G>A - IntronicSNV - 2/15 1
2-47637232-G-T c.367-1G>T - IntronicSNV - 2/15 1
2-47637233-G-A c.367G>A p.A123T Missense 3/16 - 6
2-47637233-G-C c.367G>C p.A123P Missense 3/16 - 1
2-47637233-GC-AA c.367_368delinsAA p.A123N Missense 3/16 - 1
2-47637233-GCT-ATG c.367_369delinsATG p.A123M Missense 3/16 - 1
2-47637233-GC-CT c.367_368delinsCT p.A123L Missense 3/16 - 1
2-47637233-GCT-AAG c.367_369delinsAAG p.A123K Missense 3/16 - 1
2-47637233-GC-AT c.367_368delinsAT p.A123I Missense 3/16 - 1
2-47637233-GC-CA c.367_368delinsCA p.A123H Missense 3/16 - 1
2-47637233-GC-TT c.367_368delinsTT p.A123F Missense 3/16 - 1
2-47637233-GC-TA c.367_368delinsTA p.A123Y Missense 3/16 - 1
2-47637233-GCT-TGG c.367_369delinsTGG p.A123W Missense 3/16 - 1
2-47637233-G-T c.367G>T p.A123S Missense 3/16 - 1
2-47637233-GC-CG c.367_368delinsCG p.A123R Missense 3/16 - 1
2-47637233-GCT-CAA c.367_369delinsCAA p.A123Q Missense 3/16 - 1
2-47637233-GC-TG c.367_368delinsTG p.A123C Missense 3/16 - 1
2-47637233-GGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTC-G c.367_425del p.A123Sfs*9 Multi:SpliceAcceptorDeletion,CdsStopDeletion 3/16 - 1
2-47637234-C-G c.368C>G p.A123G Missense 3/16 - 4
2-47637234-CT-AG c.368_369inv p.A123E Missense 3/16 - 1
2-47637234-C-T c.368C>T p.A123V Missense 3/16 - 3
2-47637234-C-A c.368C>A p.A123D Missense 3/16 - 1
2-47637234-GCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCA-G c.368_426del p.A123Gfs*9 InFrameDeletion 3/16 - 1
2-47637234-GC-G c.368del p.A123Vfs*51 Frameshift 3/16 - 4
2-47637235-T-A c.369T>A p.A123= Synonymous 3/16 - 1
2-47637235-T-C c.369T>C p.A123= Synonymous 3/16 - 1
2-47637235-T-G c.369T>G p.A123= Synonymous 3/16 - 1
2-47637236-TC-GG c.370_371delinsGG p.S124G Missense 3/16 - 1
2-47637236-TC-GT c.370_371delinsGT p.S124V Missense 3/16 - 1
2-47637236-T-A c.370T>A p.S124T Missense 3/16 - 2
2-47637236-TC-CG c.370_371delinsCG p.S124R Missense 3/16 - 1
2-47637236-TCT-CAA c.370_372delinsCAA p.S124Q Missense 3/16 - 1
2-47637236-T-C c.370T>C p.S124P Missense 3/16 - 3
2-47637236-TC-AA c.370_371delinsAA p.S124N Missense 3/16 - 1
2-47637236-TCT-ATG c.370_372delinsATG p.S124M Missense 3/16 - 1
2-47637236-TC-CT c.370_371delinsCT p.S124L Missense 3/16 - 1
2-47637236-TCT-AAG c.370_372delinsAAG p.S124K Missense 3/16 - 1
2-47637236-TCT-GAG c.370_372delinsGAG p.S124E Missense 3/16 - 1
2-47637236-TC-AT c.370_371delinsAT p.S124I Missense 3/16 - 1
2-47637236-TC-GA c.370_371inv p.S124D Missense 3/16 - 1
2-47637236-TC-CA c.370_371delinsCA p.S124H Missense 3/16 - 1
2-47637236-T-G c.370T>G p.S124A Missense 3/16 - 2
2-47637237-C-A c.371C>A p.S124Y Missense 3/16 - 2
2-47637237-C-T c.371C>T p.S124F Missense 3/16 - 4
2-47637237-CT-GG c.371_372delinsGG p.S124W Missense 3/16 - 1
2-47637237-C-G c.371C>G p.S124C Missense 3/16 - 3
2-47637238-T-C c.372T>C p.S124= Synonymous 3/16 - 1
2-47637239-C-T c.373C>T p.P125S Missense 3/16 - 7
2-47637239-C-A c.373C>A p.P125T Missense 3/16 - 4
2-47637239-CC-GA c.373_374delinsGA p.P125D Missense 3/16 - 1
2-47637239-CC-TG c.373_374delinsTG p.P125C Missense 3/16 - 1
2-47637239-C-G c.373C>G p.P125A Missense 3/16 - 2
2-47637239-CCT-AAG c.373_375delinsAAG p.P125K Missense 3/16 - 1
2-47637239-CC-AA c.373_374delinsAA p.P125N Missense 3/16 - 1
2-47637239-CC-AT c.373_374delinsAT p.P125I Missense 3/16 - 1
2-47637239-CC-GG c.373_374inv p.P125G Missense 3/16 - 1
2-47637239-CC-GT c.373_374delinsGT p.P125V Missense 3/16 - 1
2-47637239-CC-TA c.373_374delinsTA p.P125Y Missense 3/16 - 1
2-47637239-CCT-TGG c.373_375delinsTGG p.P125W Missense 3/16 - 1
2-47637239-CC-TT c.373_374delinsTT p.P125F Missense 3/16 - 1
2-47637239-CCT-ATG c.373_375delinsATG p.P125M Missense 3/16 - 1
2-47637239-CCT-GAG c.373_375delinsGAG p.P125E Missense 3/16 - 1
2-47637240-C-T c.374C>T p.P125L Missense 3/16 - 7
2-47637240-C-A c.374C>A p.P125H Missense 3/16 - 2
2-47637240-CT-AA c.374_375delinsAA p.P125Q Missense 3/16 - 1
2-47637240-C-G c.374C>G p.P125R Missense 3/16 - 2
2-47637238-T-TC c.374dup p.G126Wfs*7 Frameshift 3/16 - 1
2-47637241-T-C c.375T>C p.P125= Synonymous 3/16 - 1
2-47637242-G-A c.376G>A p.G126S Missense 3/16 - 7
2-47637242-GGC-ATG c.376_378delinsATG p.G126M Missense 3/16 - 1
2-47637242-G-T c.376G>T p.G126C Missense 3/16 - 3
2-47637242-GGC-AAG c.376_378delinsAAG p.G126K Missense 3/16 - 1
2-47637242-GG-TA c.376_377delinsTA p.G126Y Missense 3/16 - 1
2-47637242-GGC-TGG c.376_378delinsTGG p.G126W Missense 3/16 - 1
2-47637242-G-C c.376G>C p.G126R Missense 3/16 - 2
2-47637242-GG-AA c.376_377delinsAA p.G126N Missense 3/16 - 1
2-47637242-GG-AC c.376_377delinsAC p.G126T Missense 3/16 - 1
2-47637242-GGC-CAA c.376_378delinsCAA p.G126Q Missense 3/16 - 1
2-47637242-GG-TT c.376_377delinsTT p.G126F Missense 3/16 - 1
2-47637242-GG-CC c.376_377inv p.G126P Missense 3/16 - 1
2-47637242-GG-CA c.376_377delinsCA p.G126H Missense 3/16 - 1
2-47637242-GG-CT c.376_377delinsCT p.G126L Missense 3/16 - 1
2-47637242-GG-AT c.376_377delinsAT p.G126I Missense 3/16 - 1
2-47637243-G-A c.377G>A p.G126D Missense 3/16 - 7
2-47637241-TG-T c.377del p.G126Afs*48 Frameshift 3/16 - 1
2-47637243-G-T c.377G>T p.G126V Missense 3/16 - 2
2-47637243-G-C c.377G>C p.G126A Missense 3/16 - 2
2-47637243-GC-AG c.377_378delinsAG p.G126E Missense 3/16 - 2
2-47637245-A-G c.379A>G p.N127D Missense 3/16 - 3
2-47637245-AA-GG c.379_380delinsGG p.N127G Missense 3/16 - 1
2-47637245-AAT-TGG c.379_381delinsTGG p.N127W Missense 3/16 - 1
2-47637245-A-T c.379A>T p.N127Y Missense 3/16 - 3
2-47637245-AA-TT c.379_380inv p.N127F Missense 3/16 - 1
2-47637245-A-C c.379A>C p.N127H Missense 3/16 - 3
2-47637245-AAT-GAG c.379_381delinsGAG p.N127E Missense 3/16 - 1
2-47637245-AA-TG c.379_380delinsTG p.N127C Missense 3/16 - 1
2-47637245-AA-GT c.379_380delinsGT p.N127V Missense 3/16 - 1
2-47637245-AAT-CAA c.379_381delinsCAA p.N127Q Missense 3/16 - 1
2-47637245-AA-GC c.379_380delinsGC p.N127A Missense 3/16 - 1
2-47637245-AA-CC c.379_380delinsCC p.N127P Missense 3/16 - 1
2-47637245-AA-CT c.379_380delinsCT p.N127L Missense 3/16 - 1
2-47637246-A-G c.380A>G p.N127S Missense 3/16 - 43
2-47637246-A-T c.380A>T p.N127I Missense 3/16 - 6
2-47637246-AT-GG c.380_381delinsGG p.N127R Missense 3/16 - 1
2-47637246-A-C c.380A>C p.N127T Missense 3/16 - 6
2-47637246-AT-TG c.380_381delinsTG p.N127M Missense 3/16 - 1
2-47637246-AAT-A c.380_381del p.N127Tfs*5 Frameshift 3/16 - 3
2-47637244-C-CA c.380dup p.N127Kfs*6 Frameshift 3/16 - 1
2-47637247-T-G c.381T>G p.N127K Missense 3/16 - 3
2-47637247-T-A c.381T>A p.N127K Missense 3/16 - 3
2-47637247-T-C c.381T>C p.N127= Synonymous 3/16 - 1
2-47637248-C-G c.382C>G p.L128V Missense 3/16 - 17
2-47637248-CT-GG c.382_383delinsGG p.L128G Missense 3/16 - 1
2-47637248-C-A c.382C>A p.L128I Missense 3/16 - 2
2-47637248-CT-GC c.382_383delinsGC p.L128A Missense 3/16 - 2
2-47637248-C-T c.382C>T p.L128F Missense 3/16 - 2
2-47637248-CT-TA c.382_383delinsTA p.L128Y Missense 3/16 - 1
2-47637248-CTC-TGG c.382_384delinsTGG p.L128W Missense 3/16 - 1
2-47637248-CT-AC c.382_383delinsAC p.L128T Missense 3/16 - 1
2-47637248-CT-AG c.382_383inv p.L128S Missense 3/16 - 1
2-47637248-CTC-AAG c.382_384delinsAAG p.L128K Missense 3/16 - 1
2-47637248-CT-TG c.382_383delinsTG p.L128C Missense 3/16 - 1
2-47637248-CT-AA c.382_383delinsAA p.L128N Missense 3/16 - 1
2-47637248-CTC-GAG c.382_384inv p.L128E Missense 3/16 - 1
2-47637248-CT-GA c.382_383delinsGA p.L128D Missense 3/16 - 1
2-47637248-CTC-ATG c.382_384delinsATG p.L128M Missense 3/16 - 1
2-47637248-TC-T c.382del p.L128Sfs*46 Frameshift 3/16 - 1
2-47637249-T-G c.383T>G p.L128R Missense 3/16 - 6
2-47637249-TC-AA c.383_384delinsAA p.L128Q Missense 3/16 - 1
2-47637249-T-A c.383T>A p.L128H Missense 3/16 - 2
2-47637249-T-C c.383T>C p.L128P Missense 3/16 - 1
2-47637250-TC-T c.384del p.S129Lfs*45 Frameshift 3/16 - 1
2-47637250-C-A c.384C>A p.L128= Synonymous 3/16 - 2
2-47637250-C-G c.384C>G p.L128= Synonymous 3/16 - 2
2-47637250-C-T c.384C>T p.L128= Synonymous 3/16 - 2
2-47637250-C-CT c.385dup p.S129Ffs*4 Frameshift 3/16 - 1
2-47637251-TC-GT c.385_386delinsGT p.S129V Missense 3/16 - 1
2-47637251-T-A c.385T>A p.S129T Missense 3/16 - 2
2-47637251-TC-AA c.385_386delinsAA p.S129N Missense 3/16 - 1
2-47637251-TC-CG c.385_386delinsCG p.S129R Missense 3/16 - 1
2-47637251-TCT-CAA c.385_387delinsCAA p.S129Q Missense 3/16 - 1
2-47637251-T-C c.385T>C p.S129P Missense 3/16 - 4
2-47637251-TCT-ATG c.385_387delinsATG p.S129M Missense 3/16 - 1
2-47637251-TC-CT c.385_386delinsCT p.S129L Missense 3/16 - 1
2-47637251-TCT-AAG c.385_387delinsAAG p.S129K Missense 3/16 - 1
2-47637251-TC-AT c.385_386delinsAT p.S129I Missense 3/16 - 1
2-47637251-TC-CA c.385_386delinsCA p.S129H Missense 3/16 - 1
2-47637251-TC-GG c.385_386delinsGG p.S129G Missense 3/16 - 1
2-47637251-TCT-GAG c.385_387delinsGAG p.S129E Missense 3/16 - 1
2-47637251-TC-GA c.385_386inv p.S129D Missense 3/16 - 1
2-47637251-T-G c.385T>G p.S129A Missense 3/16 - 2
2-47637252-C-G c.386C>G p.S129C Missense 3/16 - 7
2-47637252-C-A c.386C>A p.S129Y Missense 3/16 - 2
2-47637252-CT-GG c.386_387delinsGG p.S129W Missense 3/16 - 1
2-47637252-C-T c.386C>T p.S129F Missense 3/16 - 4
2-47637252-CT-AA c.386_387delinsAA p.S129* Nonsense 3/16 - 1
2-47637246-ATC-A c.387_388del p.Q130Vfs*2 Frameshift 3/16 - 10
2-47637254-CA-GT c.388_389delinsGT p.Q130V Missense 3/16 - 3
2-47637254-TCA-T c.388_389del p.Q130Vfs*2 Frameshift 3/16 - 21
2-47637254-C-T c.388C>T p.Q130* Nonsense 3/16 - 4
2-47637254-CAG-TTT c.388_390delinsTTT p.Q130F Missense 3/16 - 1
2-47637254-C-G c.388C>G p.Q130E Missense 3/16 - 2
2-47637254-CAG-GAC c.388_390delinsGAC p.Q130D Missense 3/16 - 1
2-47637254-CAG-TGT c.388_390delinsTGT p.Q130C Missense 3/16 - 1
2-47637254-CA-GC c.388_389delinsGC p.Q130A Missense 3/16 - 2
2-47637254-CAG-AAC c.388_390delinsAAC p.Q130N Missense 3/16 - 1
2-47637254-CA-AT c.388_389delinsAT p.Q130M Missense 3/16 - 1
2-47637254-C-A c.388C>A p.Q130K Missense 3/16 - 2
2-47637254-CAG-ATC c.388_390delinsATC p.Q130I Missense 3/16 - 1
2-47637254-CA-GG c.388_389delinsGG p.Q130G Missense 3/16 - 1
2-47637254-CA-TG c.388_389inv p.Q130W Missense 3/16 - 1
2-47637254-CA-TC c.388_389delinsTC p.Q130S Missense 3/16 - 1
2-47637254-CAG-TAT c.388_390delinsTAT p.Q130Y Missense 3/16 - 1
2-47637254-CA-AC c.388_389delinsAC p.Q130T Missense 3/16 - 1
2-47637255-A-G c.389A>G p.Q130R Missense 3/16 - 3
2-47637255-A-C c.389A>C p.Q130P Missense 3/16 - 2
2-47637255-A-T c.389A>T p.Q130L Missense 3/16 - 2
2-47637256-G-T c.390G>T p.Q130H Missense 3/16 - 3
2-47637256-G-C c.390G>C p.Q130H Missense 3/16 - 3
2-47637257-TT-AC c.391_392delinsAC p.F131T Missense 3/16 - 1
2-47637257-TT-GC c.391_392delinsGC p.F131A Missense 3/16 - 1
2-47637257-TT-CC c.391_392delinsCC p.F131P Missense 3/16 - 1
2-47637257-TTT-AAG c.391_393delinsAAG p.F131K Missense 3/16 - 1
2-47637257-TT-GA c.391_392delinsGA p.F131D Missense 3/16 - 1
2-47637257-TT-CA c.391_392delinsCA p.F131H Missense 3/16 - 1
2-47637257-TT-CG c.391_392delinsCG p.F131R Missense 3/16 - 1
2-47637257-TT-AA c.391_392inv p.F131N Missense 3/16 - 1
2-47637257-TTT-CAA c.391_393delinsCAA p.F131Q Missense 3/16 - 1
2-47637257-TTT-GAG c.391_393delinsGAG p.F131E Missense 3/16 - 1
2-47637257-TT-GG c.391_392delinsGG p.F131G Missense 3/16 - 1
2-47637257-T-C c.391T>C p.F131L Missense 3/16 - 3
2-47637259-T-A c.393T>A p.F131L Missense 3/16 - 3
2-47637259-T-G c.393T>G p.F131L Missense 3/16 - 4
2-47637257-T-A c.391T>A p.F131I Missense 3/16 - 2
2-47637257-T-G c.391T>G p.F131V Missense 3/16 - 4
2-47637257-TTT-ATG c.391_393delinsATG p.F131M Missense 3/16 - 1
2-47637258-T-G c.392T>G p.F131C Missense 3/16 - 3
2-47637258-T-A c.392T>A p.F131Y Missense 3/16 - 2
2-47637258-TT-GG c.392_393delinsGG p.F131W Missense 3/16 - 1
2-47637258-T-C c.392T>C p.F131S Missense 3/16 - 2
2-47637260-G-T c.394G>T p.E132* Nonsense 3/16 - 1
2-47637260-G-A c.394G>A p.E132K Missense 3/16 - 3
2-47637260-GAA-TGT c.394_396delinsTGT p.E132C Missense 3/16 - 1
2-47637260-GAA-TTT c.394_396delinsTTT p.E132F Missense 3/16 - 1
2-47637260-GAA-ATG c.394_396delinsATG p.E132M Missense 3/16 - 1
2-47637260-GAA-CAT c.394_396delinsCAT p.E132H Missense 3/16 - 1
2-47637260-GA-AT c.394_395delinsAT p.E132I Missense 3/16 - 1
2-47637260-GA-CT c.394_395delinsCT p.E132L Missense 3/16 - 1
2-47637260-GA-TC c.394_395inv p.E132S Missense 3/16 - 1
2-47637260-GA-CC c.394_395delinsCC p.E132P Missense 3/16 - 1
2-47637260-GAA-AAC c.394_396delinsAAC p.E132N Missense 3/16 - 1
2-47637260-GA-AG c.394_395delinsAG p.E132R Missense 3/16 - 1
2-47637260-GA-AC c.394_395delinsAC p.E132T Missense 3/16 - 1
2-47637260-G-C c.394G>C p.E132Q Missense 3/16 - 2
2-47637260-GAA-TAT c.394_396delinsTAT p.E132Y Missense 3/16 - 1
2-47637260-GAA-TGG c.394_396delinsTGG p.E132W Missense 3/16 - 1
2-47637261-A-G c.395A>G p.E132G Missense 3/16 - 2
2-47637261-A-C c.395A>C p.E132A Missense 3/16 - 2
2-47637261-A-T c.395A>T p.E132V Missense 3/16 - 2
2-47637262-A-C c.396A>C p.E132D Missense 3/16 - 3
2-47637262-A-T c.396A>T p.E132D Missense 3/16 - 3
2-47637263-G-C c.397G>C p.D133H Missense 3/16 - 3
2-47637263-GAC-TGG c.397_399delinsTGG p.D133W Missense 3/16 - 1
2-47637263-GA-TG c.397_398delinsTG p.D133C Missense 3/16 - 1
2-47637263-G-T c.397G>T p.D133Y Missense 3/16 - 2
2-47637263-GA-TT c.397_398delinsTT p.D133F Missense 3/16 - 1
2-47637263-GA-CC c.397_398delinsCC p.D133P Missense 3/16 - 1
2-47637263-GA-CG c.397_398delinsCG p.D133R Missense 3/16 - 1
2-47637263-GAC-ATG c.397_399delinsATG p.D133M Missense 3/16 - 1
2-47637263-GAC-AAG c.397_399delinsAAG p.D133K Missense 3/16 - 1
2-47637263-G-A c.397G>A p.D133N Missense 3/16 - 2
2-47637263-GA-CT c.397_398delinsCT p.D133L Missense 3/16 - 1
2-47637263-GA-AC c.397_398delinsAC p.D133T Missense 3/16 - 1
2-47637263-GA-AG c.397_398delinsAG p.D133S Missense 3/16 - 1
2-47637263-GAC-CAA c.397_399delinsCAA p.D133Q Missense 3/16 - 1
2-47637263-GA-AT c.397_398delinsAT p.D133I Missense 3/16 - 1
2-47637264-A-T c.398A>T p.D133V Missense 3/16 - 2
2-47637264-A-C c.398A>C p.D133A Missense 3/16 - 2
2-47637264-A-G c.398A>G p.D133G Missense 3/16 - 3
2-47637265-C-T c.399C>T p.D133= Synonymous 3/16 - 7
2-47637265-C-G c.399C>G p.D133E Missense 3/16 - 2
2-47637265-C-A c.399C>A p.D133E Missense 3/16 - 2
2-47637265-AC-A c.399del p.D133Efs*41 Frameshift 3/16 - 3
2-47637266-AT-CA c.400_401delinsCA p.I134H Missense 3/16 - 1
2-47637266-AT-GC c.400_401delinsGC p.I134A Missense 3/16 - 1
2-47637266-A-C c.400A>C p.I134L Missense 3/16 - 2
2-47637266-ATT-GAG c.400_402delinsGAG p.I134E Missense 3/16 - 1
2-47637266-AT-GG c.400_401delinsGG p.I134G Missense 3/16 - 1
2-47637266-ATT-CAA c.400_402delinsCAA p.I134Q Missense 3/16 - 1
2-47637266-AT-TG c.400_401delinsTG p.I134C Missense 3/16 - 1
2-47637266-AT-CC c.400_401delinsCC p.I134P Missense 3/16 - 1
2-47637266-A-T c.400A>T p.I134F Missense 3/16 - 3
2-47637266-AT-GA c.400_401delinsGA p.I134D Missense 3/16 - 1
2-47637266-ATT-TGG c.400_402delinsTGG p.I134W Missense 3/16 - 1
2-47637266-A-G c.400A>G p.I134V Missense 3/16 - 2
2-47637266-AT-TA c.400_401delinsTA p.I134Y Missense 3/16 - 1
2-47637267-TT-AG c.401_402delinsAG p.I134K Missense 3/16 - 1
2-47637267-TT-GG c.401_402delinsGG p.I134R Missense 3/16 - 1
2-47637267-T-A c.401T>A p.I134N Missense 3/16 - 2
2-47637267-T-C c.401T>C p.I134T Missense 3/16 - 3
2-47637267-T-G c.401T>G p.I134S Missense 3/16 - 2
2-47637268-T-G c.402T>G p.I134M Missense 3/16 - 1
2-47637268-T-C c.402T>C p.I134= Synonymous 3/16 - 1
2-47637266-AT-A c.402del p.L135Sfs*39 Frameshift 3/16 - 1
2-47637269-CT-TA c.403_404delinsTA p.L135Y Missense 3/16 - 2
2-47637269-C-T c.403C>T p.L135F Missense 3/16 - 7
2-47637269-C-G c.403C>G p.L135V Missense 3/16 - 7
2-47637269-CT-AA c.403_404delinsAA p.L135N Missense 3/16 - 1
2-47637269-CTC-ATG c.403_405delinsATG p.L135M Missense 3/16 - 1
2-47637269-CTC-AAG c.403_405delinsAAG p.L135K Missense 3/16 - 1
2-47637269-C-A c.403C>A p.L135I Missense 3/16 - 2
2-47637269-CT-GG c.403_404delinsGG p.L135G Missense 3/16 - 1
2-47637269-CTC-GAG c.403_405inv p.L135E Missense 3/16 - 1
2-47637269-CT-GA c.403_404delinsGA p.L135D Missense 3/16 - 1
2-47637269-CTC-TGG c.403_405delinsTGG p.L135W Missense 3/16 - 1
2-47637269-CT-TG c.403_404delinsTG p.L135C Missense 3/16 - 1
2-47637269-CT-AC c.403_404delinsAC p.L135T Missense 3/16 - 1
2-47637269-CT-GC c.403_404delinsGC p.L135A Missense 3/16 - 1
2-47637269-CT-AG c.403_404inv p.L135S Missense 3/16 - 1
2-47637270-T-C c.404T>C p.L135P Missense 3/16 - 3
2-47637270-T-A c.404T>A p.L135H Missense 3/16 - 2
2-47637270-T-G c.404T>G p.L135R Missense 3/16 - 2
2-47637270-TC-AA c.404_405delinsAA p.L135Q Missense 3/16 - 1
2-47637271-C-T c.405C>T p.L135= Synonymous 3/16 - 1
2-47637272-TT-GG c.406_407delinsGG p.F136G Missense 3/16 - 1
2-47637272-TT-CG c.406_407delinsCG p.F136R Missense 3/16 - 1
2-47637272-TT-AC c.406_407delinsAC p.F136T Missense 3/16 - 1
2-47637272-T-G c.406T>G p.F136V Missense 3/16 - 2
2-47637272-TT-CC c.406_407delinsCC p.F136P Missense 3/16 - 1
2-47637272-TTT-AAG c.406_408delinsAAG p.F136K Missense 3/16 - 1
2-47637272-TTT-CAA c.406_408delinsCAA p.F136Q Missense 3/16 - 1
2-47637272-TT-AA c.406_407inv p.F136N Missense 3/16 - 1
2-47637272-TT-GA c.406_407delinsGA p.F136D Missense 3/16 - 1
2-47637272-TT-CA c.406_407delinsCA p.F136H Missense 3/16 - 1
2-47637272-TTT-GAG c.406_408delinsGAG p.F136E Missense 3/16 - 1
2-47637272-TTT-ATG c.406_408delinsATG p.F136M Missense 3/16 - 1
2-47637272-TT-GC c.406_407delinsGC p.F136A Missense 3/16 - 2
2-47637272-T-A c.406T>A p.F136I Missense 3/16 - 2
2-47637272-T-C c.406T>C p.F136L Missense 3/16 - 3
2-47637274-T-A c.408T>A p.F136L Missense 3/16 - 2
2-47637274-T-G c.408T>G p.F136L Missense 3/16 - 3
2-47637273-T-G c.407T>G p.F136C Missense 3/16 - 2
2-47637273-T-C c.407T>C p.F136S Missense 3/16 - 2
2-47637273-TT-GG c.407_408delinsGG p.F136W Missense 3/16 - 1
2-47637273-T-A c.407T>A p.F136Y Missense 3/16 - 2
2-47637273-TT-AA c.407_408inv p.F136* Nonsense 3/16 - 1
2-47637271-CT-C c.408del p.F136Lfs*38 Frameshift 3/16 - 7
2-47637275-G-C c.409G>C p.G137R Missense 3/16 - 7
2-47637275-G-T c.409G>T p.G137C Missense 3/16 - 3
2-47637275-G-A c.409G>A p.G137S Missense 3/16 - 1
2-47637276-G-A c.410G>A p.G137D Missense 3/16 - 2
2-47637276-G-C c.410G>C p.G137A Missense 3/16 - 1
2-47637276-G-T c.410G>T p.G137V Missense 3/16 - 2
2-47637278-A-C c.412A>C p.N138H Missense 3/16 - 1
2-47637278-A-G c.412A>G p.N138D Missense 3/16 - 2
2-47637278-A-T c.412A>T p.N138Y Missense 3/16 - 1
2-47637279-A-G c.413A>G p.N138S Missense 3/16 - 6
2-47637279-A-C c.413A>C p.N138T Missense 3/16 - 2
2-47637279-A-T c.413A>T p.N138I Missense 3/16 - 1
2-47637280-C-G c.414C>G p.N138K Missense 3/16 - 2
2-47637280-C-A c.414C>A p.N138K Missense 3/16 - 2
2-47637280-C-T c.414C>T p.N138= Synonymous 3/16 - 1
2-47637281-A-C c.415A>C p.N139H Missense 3/16 - 1
2-47637281-A-G c.415A>G p.N139D Missense 3/16 - 1
2-47637281-A-T c.415A>T p.N139Y Missense 3/16 - 1
2-47637282-A-G c.416A>G p.N139S Missense 3/16 - 6
2-47637282-A-C c.416A>C p.N139T Missense 3/16 - 2
2-47637280-CA-C c.416del p.N139Mfs*35 Frameshift 3/16 - 5
2-47637282-A-T c.416A>T p.N139I Missense 3/16 - 1
2-47637282-AT-TG c.416_417delinsTG p.N139M Missense 3/16 - 1
2-47637283-T-A c.417T>A p.N139K Missense 3/16 - 1
2-47637283-T-G c.417T>G p.N139K Missense 3/16 - 1
2-47637283-T-TG c.418dup p.D140Gfs*12 Frameshift 3/16 - 1
2-47637284-G-A c.418G>A p.D140N Missense 3/16 - 2
2-47637281-AATG-A c.418_420del p.D140del InFrameDeletion 3/16 - 1
2-47637284-G-C c.418G>C p.D140H Missense 3/16 - 1
2-47637284-G-T c.418G>T p.D140Y Missense 3/16 - 1
2-47637285-A-G c.419A>G p.D140G Missense 3/16 - 4
2-47637285-A-C c.419A>C p.D140A Missense 3/16 - 1
2-47637285-A-T c.419A>T p.D140V Missense 3/16 - 1
2-47637285-GA-G c.419del p.D140Vfs*34 Frameshift 3/16 - 1
2-47637285-A-AT c.420dup p.M141Yfs*11 Frameshift 3/16 - 5
2-47637286-T-A c.420T>A p.D140E Missense 3/16 - 1
2-47637286-T-G c.420T>G p.D140E Missense 3/16 - 1
2-47637287-A-G c.421A>G p.M141V Missense 3/16 - 6
2-47637284-GAT-G c.421_422del p.M141Vfs*10 Frameshift 3/16 - 3
2-47637287-A-C c.421A>C p.M141L Missense 3/16 - 1
2-47637287-A-T c.421A>T p.M141L Missense 3/16 - 1
2-47637287-ATG-TAT c.421_423delinsTAT p.M141Y Missense 3/16 - 1
2-47637288-T-C c.422T>C p.M141T Missense 3/16 - 4
2-47637288-T-A c.422T>A p.M141K Missense 3/16 - 1
2-47637288-T-G c.422T>G p.M141R Missense 3/16 - 1
2-47637289-G-T c.423G>T p.M141I Missense 3/16 - 2
2-47637289-G-A c.423G>A p.M141I Missense 3/16 - 1
2-47637289-G-C c.423G>C p.M141I Missense 3/16 - 1
2-47637290-TC-AT c.424_425delinsAT p.S142I Missense 3/16 - 1
2-47637289-G-GT c.424dup p.S142Ffs*10 Frameshift 3/16 - 1
2-47637290-T-A c.424T>A p.S142T Missense 3/16 - 1
2-47637290-T-C c.424T>C p.S142P Missense 3/16 - 1
2-47637290-T-G c.424T>G p.S142A Missense 3/16 - 2
2-47637291-C-G c.425C>G p.S142* Nonsense 3/16 - 9
2-47637291-C-T c.425C>T p.S142L Missense 3/16 - 4
2-47637291-C-A c.425C>A p.S142* Nonsense 3/16 - 4
2-47637292-A-G c.426A>G p.S142= Synonymous 3/16 - 1
2-47637292-A-AG c.427dup p.A143Gfs*9 Frameshift 3/16 - 1
2-47637293-G-A c.427G>A p.A143T Missense 3/16 - 3
2-47637293-G-C c.427G>C p.A143P Missense 3/16 - 1
2-47637293-G-T c.427G>T p.A143S Missense 3/16 - 2
2-47637294-GCT-G c.428_429del p.A143Vfs*8 Frameshift 3/16 - 1
2-47637294-C-A c.428C>A p.A143D Missense 3/16 - 1
2-47637294-C-G c.428C>G p.A143G Missense 3/16 - 2
2-47637294-C-T c.428C>T p.A143V Missense 3/16 - 1
2-47637296-TC-GG c.430_431delinsGG p.S144G Missense 3/16 - 1
2-47637296-TC-AT c.430_431delinsAT p.S144I Missense 3/16 - 3
2-47637296-T-A c.430T>A p.S144T Missense 3/16 - 1
2-47637296-T-C c.430T>C p.S144P Missense 3/16 - 1
2-47637296-T-G c.430T>G p.S144A Missense 3/16 - 1
2-47637296-TC-CT c.430_431delinsCT p.S144L Missense 3/16 - 1
2-47637297-C-G c.431C>G p.S144C Missense 3/16 - 4
2-47637297-C-T c.431C>T p.S144F Missense 3/16 - 3
2-47637297-C-A c.431C>A p.S144Y Missense 3/16 - 3
2-47637296-TC-T c.432del p.I145Lfs*29 Frameshift 3/16 - 1
2-47637298-C-T c.432C>T p.S144= Synonymous 3/16 - 1
2-47637299-A-G c.433A>G p.I145V Missense 3/16 - 5
2-47637299-A-C c.433A>C p.I145L Missense 3/16 - 1
2-47637299-A-T c.433A>T p.I145F Missense 3/16 - 1
2-47637300-T-A c.434T>A p.I145N Missense 3/16 - 1
2-47637300-T-C c.434T>C p.I145T Missense 3/16 - 2
2-47637300-T-G c.434T>G p.I145S Missense 3/16 - 1
2-47637301-T-G c.435T>G p.I145M Missense 3/16 - 36
2-47637302-G-A c.436G>A p.G146S Missense 3/16 - 1
2-47637302-G-C c.436G>C p.G146R Missense 3/16 - 2
2-47637302-G-T c.436G>T p.G146C Missense 3/16 - 1
2-47637303-G-T c.437G>T p.G146V Missense 3/16 - 6
2-47637303-G-A c.437G>A p.G146D Missense 3/16 - 1
2-47637303-G-C c.437G>C p.G146A Missense 3/16 - 1
2-47637304-T-C c.438T>C p.G146= Synonymous 3/16 - 3
2-47637305-G-A c.439G>A p.V147I Missense 3/16 - 5
2-47637305-G-C c.439G>C p.V147L Missense 3/16 - 1
2-47637305-G-T c.439G>T p.V147F Missense 3/16 - 1
2-47637306-T-A c.440T>A p.V147D Missense 3/16 - 2
2-47637306-T-G c.440T>G p.V147G Missense 3/16 - 4
2-47637306-T-C c.440T>C p.V147A Missense 3/16 - 4
2-47637305-G-GT c.441dup p.V148Cfs*4 Frameshift 3/16 - 1
2-47637308-G-T c.442G>T p.V148L Missense 3/16 - 5
2-47637308-GT-CC c.442_443delinsCC p.V148P Missense 3/16 - 1
2-47637308-GTG-TAT c.442_444delinsTAT p.V148Y Missense 3/16 - 1
2-47637308-GT-CA c.442_443delinsCA p.V148Q Missense 3/16 - 1
2-47637308-GTG-TGT c.442_444delinsTGT p.V148C Missense 3/16 - 1
2-47637308-GT-TG c.442_443delinsTG p.V148W Missense 3/16 - 1
2-47637308-GT-AC c.442_443inv p.V148T Missense 3/16 - 1
2-47637308-G-A c.442G>A p.V148M Missense 3/16 - 3
2-47637308-GTG-ATC c.442_444delinsATC p.V148I Missense 3/16 - 1
2-47637308-GT-AA c.442_443delinsAA p.V148K Missense 3/16 - 1
2-47637308-G-C c.442G>C p.V148L Missense 3/16 - 4
2-47637308-GTG-TTT c.442_444delinsTTT p.V148F Missense 3/16 - 1
2-47637308-GT-TC c.442_443delinsTC p.V148S Missense 3/16 - 1
2-47637308-GTG-CAT c.442_444delinsCAT p.V148H Missense 3/16 - 1
2-47637308-GTG-AAC c.442_444delinsAAC p.V148N Missense 3/16 - 1
2-47637308-GT-AG c.442_443delinsAG p.V148R Missense 3/16 - 1
2-47637309-T-A c.443T>A p.V148E Missense 3/16 - 5
2-47637309-T-C c.443T>C p.V148A Missense 3/16 - 3
2-47637309-T-G c.443T>G p.V148G Missense 3/16 - 3
2-47637309-TG-AC c.443_444delinsAC p.V148D Missense 3/16 - 1
2-47637309-GT-G c.443del p.V148Gfs*26 Frameshift 3/16 - 2
2-47637310-G-A c.444G>A p.V148= Synonymous 3/16 - 1
2-47637311-G-T c.445G>T p.G149C Missense 3/16 - 3
2-47637311-GG-AA c.445_446delinsAA p.G149N Missense 3/16 - 1
2-47637311-GG-AC c.445_446delinsAC p.G149T Missense 3/16 - 2
2-47637311-GGT-TGG c.445_447delinsTGG p.G149W Missense 3/16 - 1
2-47637311-G-A c.445G>A p.G149S Missense 3/16 - 2
2-47637311-G-C c.445G>C p.G149R Missense 3/16 - 3
2-47637311-GG-CA c.445_446delinsCA p.G149H Missense 3/16 - 1
2-47637311-GGT-CAA c.445_447delinsCAA p.G149Q Missense 3/16 - 1
2-47637311-GG-CC c.445_446inv p.G149P Missense 3/16 - 1
2-47637311-GGT-AAG c.445_447delinsAAG p.G149K Missense 3/16 - 1
2-47637311-GG-CT c.445_446delinsCT p.G149L Missense 3/16 - 1
2-47637311-GG-TT c.445_446delinsTT p.G149F Missense 3/16 - 1
2-47637311-GGT-ATG c.445_447delinsATG p.G149M Missense 3/16 - 1
2-47637311-GG-AT c.445_446delinsAT p.G149I Missense 3/16 - 1
2-47637311-GG-TA c.445_446delinsTA p.G149Y Missense 3/16 - 1
2-47637308-GTGGGTGTTAAAA-G c.445_456del p.G149_M152del InFrameDeletion 3/16 - 1
2-47637312-G-A c.446G>A p.G149D Missense 3/16 - 5
2-47637312-G-C c.446G>C p.G149A Missense 3/16 - 3
2-47637312-GT-AG c.446_447delinsAG p.G149E Missense 3/16 - 1
2-47637312-G-T c.446G>T p.G149V Missense 3/16 - 3
2-47637313-T-C c.447T>C p.G149= Synonymous 3/16 - 1
2-47637314-G-A c.448G>A p.V150I Missense 3/16 - 5
2-47637314-GT-TG c.448_449delinsTG p.V150C Missense 3/16 - 1
2-47637314-GTT-ATG c.448_450delinsATG p.V150M Missense 3/16 - 1
2-47637314-GT-AA c.448_449delinsAA p.V150N Missense 3/16 - 1
2-47637314-GT-CC c.448_449delinsCC p.V150P Missense 3/16 - 1
2-47637314-GTT-CAA c.448_450delinsCAA p.V150Q Missense 3/16 - 1
2-47637314-GTT-AAG c.448_450delinsAAG p.V150K Missense 3/16 - 1
2-47637314-G-T c.448G>T p.V150F Missense 3/16 - 3
2-47637314-GT-TA c.448_449delinsTA p.V150Y Missense 3/16 - 1
2-47637314-GTT-TGG c.448_450delinsTGG p.V150W Missense 3/16 - 1
2-47637314-GT-AC c.448_449inv p.V150T Missense 3/16 - 1
2-47637314-GT-CA c.448_449delinsCA p.V150H Missense 3/16 - 1
2-47637314-G-C c.448G>C p.V150L Missense 3/16 - 2
2-47637314-GT-AG c.448_449delinsAG p.V150S Missense 3/16 - 1
2-47637314-GT-CG c.448_449delinsCG p.V150R Missense 3/16 - 1
2-47637315-T-C c.449T>C p.V150A Missense 3/16 - 2
2-47637315-T-A c.449T>A p.V150D Missense 3/16 - 2
2-47637315-T-G c.449T>G p.V150G Missense 3/16 - 4
2-47637315-TT-AG c.449_450delinsAG p.V150E Missense 3/16 - 1
2-47637277-T-TAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTTAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAA c.450_451insTAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTT p.V150_K151ins* Nonsense 3/16 - 1
2-47637317-A-C c.451A>C p.K151Q Missense 3/16 - 2
2-47637317-AA-CC c.451_452delinsCC p.K151P Missense 3/16 - 1
2-47637317-AA-CT c.451_452delinsCT p.K151L Missense 3/16 - 1
2-47637317-AAA-CAT c.451_453delinsCAT p.K151H Missense 3/16 - 1
2-47637317-AA-GG c.451_452delinsGG p.K151G Missense 3/16 - 1
2-47637317-AAA-TTT c.451_453inv p.K151F Missense 3/16 - 1
2-47637317-A-G c.451A>G p.K151E Missense 3/16 - 2
2-47637317-AAA-GAC c.451_453delinsGAC p.K151D Missense 3/16 - 1
2-47637317-AAA-TGT c.451_453delinsTGT p.K151C Missense 3/16 - 1
2-47637317-AA-GC c.451_452delinsGC p.K151A Missense 3/16 - 1
2-47637317-AAA-TAT c.451_453delinsTAT p.K151Y Missense 3/16 - 1
2-47637317-AAA-TGG c.451_453delinsTGG p.K151W Missense 3/16 - 1
2-47637317-AA-GT c.451_452delinsGT p.K151V Missense 3/16 - 1
2-47637318-A-C c.452A>C p.K151T Missense 3/16 - 3
2-47637318-AA-GC c.452_453delinsGC p.K151S Missense 3/16 - 1
2-47637318-A-G c.452A>G p.K151R Missense 3/16 - 2
2-47637318-AA-TG c.452_453delinsTG p.K151M Missense 3/16 - 1
2-47637318-A-T c.452A>T p.K151I Missense 3/16 - 2
2-47637319-A-C c.453A>C p.K151N Missense 3/16 - 3
2-47637319-A-T c.453A>T p.K151N Missense 3/16 - 4
2-47637319-A-G c.453A>G p.K151= Synonymous 3/16 - 1
2-47637316-TA-T c.454del p.M152Cfs*22 Frameshift 3/16 - 7
2-47637320-A-G c.454A>G p.M152V Missense 3/16 - 3
2-47637320-AT-GG c.454_455delinsGG p.M152G Missense 3/16 - 1
2-47637320-ATG-TTT c.454_456delinsTTT p.M152F Missense 3/16 - 1
2-47637320-AT-GA c.454_455delinsGA p.M152E Missense 3/16 - 1
2-47637320-ATG-GAC c.454_456delinsGAC p.M152D Missense 3/16 - 1
2-47637320-ATG-TGT c.454_456delinsTGT p.M152C Missense 3/16 - 2
2-47637320-AT-GC c.454_455delinsGC p.M152A Missense 3/16 - 1
2-47637320-AT-TG c.454_455delinsTG p.M152W Missense 3/16 - 1
2-47637320-A-C c.454A>C p.M152L Missense 3/16 - 2
2-47637320-A-T c.454A>T p.M152L Missense 3/16 - 2
2-47637320-ATG-CAT c.454_456inv p.M152H Missense 3/16 - 1
2-47637320-AT-CC c.454_455delinsCC p.M152P Missense 3/16 - 1
2-47637320-AT-CA c.454_455delinsCA p.M152Q Missense 3/16 - 1
2-47637320-ATG-TAT c.454_456delinsTAT p.M152Y Missense 3/16 - 1
2-47637316-T-TA c.454dup p.M152Nfs*5 Frameshift 3/16 - 2
2-47637321-T-G c.455T>G p.M152R Missense 3/16 - 4
2-47637321-T-C c.455T>C p.M152T Missense 3/16 - 4
2-47637321-T-A c.455T>A p.M152K Missense 3/16 - 2
2-47637321-TG-GC c.455_456delinsGC p.M152S Missense 3/16 - 1
2-47637321-TG-AC c.455_456delinsAC p.M152N Missense 3/16 - 2
2-47637322-G-C c.456G>C p.M152I Missense 3/16 - 2
2-47637322-G-A c.456G>A p.M152I Missense 3/16 - 2
2-47637322-G-T c.456G>T p.M152I Missense 3/16 - 2
2-47637323-T-A c.457T>A p.S153T Missense 3/16 - 2
2-47637323-T-C c.457T>C p.S153P Missense 3/16 - 2
2-47637323-TC-AA c.457_458delinsAA p.S153N Missense 3/16 - 1
2-47637323-TC-GT c.457_458delinsGT p.S153V Missense 3/16 - 2
2-47637323-TCC-CAA c.457_459delinsCAA p.S153Q Missense 3/16 - 1
2-47637323-TC-CG c.457_458delinsCG p.S153R Missense 3/16 - 1
2-47637323-TC-CT c.457_458delinsCT p.S153L Missense 3/16 - 1
2-47637323-TC-GA c.457_458inv p.S153D Missense 3/16 - 1