CD4 CD4 molecule

Annotation transcript: NM_000616.5

1215 unique variant annotations were identified in 2167 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
12-6899181-T-G c.-68+353T>G - intron_variant - 1/9 3
12-6901082-G-A c.-68+2254G>A - intron_variant - 1/9 1
12-6901082-G-C c.-68+2254G>C - intron_variant - 1/9 1
12-6901134-C-A c.-68+2306C>A - intron_variant - 1/9 4
12-6901134-C-T c.-68+2306C>T - intron_variant - 1/9 4
12-6902002-G-A c.-68+3174G>A - intron_variant - 1/9 1
12-6902002-G-T c.-68+3174G>T - intron_variant - 1/9 1
12-6905715-T-C c.-67-3523T>C - IntronicSNV - 1/9 2
12-6909305-A-G c.1A>G p.M1? Missense 2/10 - 1
12-6909306-T-C c.2T>C p.M1? Missense 2/10 - 1
12-6909310-C-T c.6C>T p.N2= Synonymous 2/10 - 16
12-6909311-C-A c.7C>A p.R3= Synonymous 2/10 - 6
12-6909313-G-A c.9G>A p.R3= Synonymous 2/10 - 6
12-6909313-G-C c.9G>C p.R3= Synonymous 2/10 - 6
12-6909313-G-T c.9G>T p.R3= Synonymous 2/10 - 6
12-6909314-GGA-AGC c.10_12delinsAGC p.G4S Missense 2/10 - 1
12-6909314-G-T c.10G>T p.G4* Nonsense 2/10 - 1
12-6909316-A-C c.12A>C p.G4= Synonymous 2/10 - 1
12-6909316-A-G c.12A>G p.G4= Synonymous 2/10 - 1
12-6909316-A-T c.12A>T p.G4= Synonymous 2/10 - 1
12-6909317-G-A c.13G>A p.V5I Missense 2/10 - 1
12-6909322-T-A c.18T>A p.P6= Synonymous 2/10 - 2
12-6909322-T-C c.18T>C p.P6= Synonymous 2/10 - 2
12-6909322-T-G c.18T>G p.P6= Synonymous 2/10 - 2
12-6909325-T-C c.21T>C p.F7= Synonymous 2/10 - 2
12-6909327-G-A c.23G>A p.R8K Missense 2/10 - 1
12-6909332-T-A c.28T>A p.L10M Missense 2/10 - 5
12-6909332-T-C c.28T>C p.L10= Synonymous 2/10 - 4
12-6909332-T-G c.28T>G p.L10V Missense 2/10 - 107
12-6909332-TT-AG c.28_29delinsAG p.L10R Missense 2/10 - 12
12-6909332-TT-CC c.28_29delinsCC p.L10P Missense 2/10 - 1
12-6909332-TTG-ATC c.28_30delinsATC p.L10I Missense 2/10 - 197
12-6909332-TT-GC c.28_29delinsGC p.L10A Missense 2/10 - 5
12-6909334-G-A c.30G>A p.L10= Synonymous 2/10 - 4
12-6909333-T-C c.29T>C p.L10S Missense 2/10 - 1
12-6909333-TG-AT c.29_30delinsAT p.L10Y Missense 2/10 - 1
12-6909333-TG-GT c.29_30delinsGT p.L10C Missense 2/10 - 3
12-6909334-G-C c.30G>C p.L10F Missense 2/10 - 107
12-6909334-G-T c.30G>T p.L10F Missense 2/10 - 107
12-6909335-C-G c.31C>G p.L11V Missense 2/10 - 1
12-6909335-C-T c.31C>T p.L11F Missense 2/10 - 1
12-6909335-CT-GA c.31_32delinsGA p.L11D Missense 2/10 - 1
12-6909335-CT-GC c.31_32delinsGC p.L11A Missense 2/10 - 2
12-6909335-CT-TG c.31_32delinsTG p.L11C Missense 2/10 - 1
12-6909336-T-G c.32T>G p.L11R Missense 2/10 - 1
12-6909338-CT-GA c.34_35delinsGA p.L12E Missense 2/10 - 5
12-6909338-CT-GC c.34_35delinsGC p.L12A Missense 2/10 - 1
12-6909338-CT-GG c.34_35delinsGG p.L12G Missense 2/10 - 1
12-6909341-G-C c.37G>C p.V13L Missense 2/10 - 3
12-6909341-G-T c.37G>T p.V13L Missense 2/10 - 3
12-6909341-GT-AC c.37_38inv p.V13T Missense 2/10 - 1
12-6909341-GTG-ATC c.37_39delinsATC p.V13I Missense 2/10 - 1
12-6909342-T-C c.38T>C p.V13A Missense 2/10 - 3
12-6909342-TG-AC c.38_39delinsAC p.V13D Missense 2/10 - 2
12-6909344-C-G c.40C>G p.L14V Missense 2/10 - 1
12-6909344-CT-GC c.40_41delinsGC p.L14A Missense 2/10 - 1
12-6909344-CTG-GAC c.40_42delinsGAC p.L14D Missense 2/10 - 1
12-6909344-CT-TA c.40_41delinsTA p.L14* Nonsense 2/10 - 1
12-6909344-CT-TG c.40_41delinsTG p.L14W Missense 2/10 - 1
12-6909347-C-A c.43C>A p.Q15K Missense 2/10 - 1
12-6909347-CAA-AAC c.43_45delinsAAC p.Q15N Missense 2/10 - 1
12-6909347-CAA-ATG c.43_45delinsATG p.Q15M Missense 2/10 - 1
12-6909347-CAA-GAC c.43_45delinsGAC p.Q15D Missense 2/10 - 1
12-6909347-CA-AT c.43_44delinsAT p.Q15I Missense 2/10 - 1
12-6909347-CAA-TGT c.43_45delinsTGT p.Q15C Missense 2/10 - 1
12-6909347-CAA-TTT c.43_45delinsTTT p.Q15F Missense 2/10 - 1
12-6909347-CA-GC c.43_44delinsGC p.Q15A Missense 2/10 - 2
12-6909347-CA-GG c.43_44delinsGG p.Q15G Missense 2/10 - 1
12-6909347-C-G c.43C>G p.Q15E Missense 2/10 - 1
12-6909347-C-T c.43C>T p.Q15* Nonsense 2/10 - 1
12-6909348-A-T c.44A>T p.Q15L Missense 2/10 - 5
12-6909349-A-C c.45A>C p.Q15H Missense 2/10 - 1
12-6909349-A-G c.45A>G p.Q15= Synonymous 2/10 - 1
12-6909349-A-T c.45A>T p.Q15H Missense 2/10 - 1
12-6909350-C-G c.46C>G p.L16V Missense 2/10 - 1
12-6909350-CT-GC c.46_47delinsGC p.L16A Missense 2/10 - 2
12-6909350-CTG-TGT c.46_48delinsTGT p.L16C Missense 2/10 - 1
12-6909350-CT-TA c.46_47delinsTA p.L16* Nonsense 2/10 - 1
12-6909351-T-G c.47T>G p.L16R Missense 2/10 - 2
12-6909353-G-A c.49G>A p.A17T Missense 2/10 - 1
12-6909353-G-C c.49G>C p.A17P Missense 2/10 - 1
12-6909353-G-T c.49G>T p.A17S Missense 2/10 - 1
12-6909442-T-C c.50-31T>C - IntronicSNV - 2/9 1
12-6909473-C-A c.50C>A p.A17E Missense 3/10 - 3
12-6909473-CG-AC c.50_51delinsAC p.A17D Missense 3/10 - 7
12-6909473-C-T c.50C>T p.A17V Missense 3/10 - 1
12-6909474-G-A c.51G>A p.A17= Synonymous 3/10 - 3
12-6909474-G-C c.51G>C p.A17= Synonymous 3/10 - 3
12-6909474-G-T c.51G>T p.A17= Synonymous 3/10 - 3
12-6909475-C-T c.52C>T p.L18F Missense 3/10 - 57
12-6909475-CTC-AAG c.52_54delinsAAG p.L18K Missense 3/10 - 1
12-6909475-CTC-TAA c.52_54delinsTAA p.L18* Nonsense 3/10 - 2
12-6909475-CT-GC c.52_53delinsGC p.L18A Missense 3/10 - 4
12-6909476-T-A c.53T>A p.L18H Missense 3/10 - 1
12-6909478-C-A c.55C>A p.L19I Missense 3/10 - 13
12-6909478-C-G c.55C>G p.L19V Missense 3/10 - 1
12-6909478-CT-AC c.55_56delinsAC p.L19T Missense 3/10 - 1
12-6909478-CT-AG c.55_56inv p.L19S Missense 3/10 - 1
12-6909478-CT-GC c.55_56delinsGC p.L19A Missense 3/10 - 1
12-6909479-T-C c.56T>C p.L19P Missense 3/10 - 2
12-6909480-C-A c.57C>A p.L19= Synonymous 3/10 - 1
12-6909480-C-G c.57C>G p.L19= Synonymous 3/10 - 1
12-6909480-C-T c.57C>T p.L19= Synonymous 3/10 - 1
12-6909481-CC-AA c.58_59delinsAA p.P20K Missense 3/10 - 1
12-6909481-CCA-GAC c.58_60delinsGAC p.P20D Missense 3/10 - 2
12-6909481-CCA-TGG c.58_60inv p.P20W Missense 3/10 - 1
12-6909481-CCA-TGT c.58_60delinsTGT p.P20C Missense 3/10 - 1
12-6909481-CC-GA c.58_59delinsGA p.P20E Missense 3/10 - 1
12-6909481-CC-GG c.58_59inv p.P20G Missense 3/10 - 1
12-6909481-C-G c.58C>G p.P20A Missense 3/10 - 2
12-6909481-C-T c.58C>T p.P20S Missense 3/10 - 1
12-6909482-C-T c.59C>T p.P20L Missense 3/10 - 1
12-6909483-A-T c.60A>T p.P20= Synonymous 3/10 - 1
12-6909484-G-A c.61G>A p.A21T Missense 3/10 - 2
12-6909484-G-C c.61G>C p.A21P Missense 3/10 - 2
12-6909484-GC-AG c.61_62delinsAG p.A21R Missense 3/10 - 1
12-6909484-GCA-TGT c.61_63delinsTGT p.A21C Missense 3/10 - 2
12-6909484-GCA-TTT c.61_63delinsTTT p.A21F Missense 3/10 - 1
12-6909484-GC-CT c.61_62delinsCT p.A21L Missense 3/10 - 3
12-6909485-C-A c.62C>A p.A21E Missense 3/10 - 7
12-6909485-CA-AC c.62_63delinsAC p.A21D Missense 3/10 - 6
12-6909485-C-T c.62C>T p.A21V Missense 3/10 - 2
12-6909486-A-C c.63A>C p.A21= Synonymous 3/10 - 5
12-6909486-A-G c.63A>G p.A21= Synonymous 3/10 - 5
12-6909486-A-T c.63A>T p.A21= Synonymous 3/10 - 5
12-6909487-G-A c.64G>A p.A22T Missense 3/10 - 2
12-6909487-G-C c.64G>C p.A22P Missense 3/10 - 2
12-6909487-GC-AA c.64_65delinsAA p.A22N Missense 3/10 - 1
12-6909487-GC-AT c.64_65delinsAT p.A22I Missense 3/10 - 1
12-6909487-GC-CA c.64_65delinsCA p.A22H Missense 3/10 - 1
12-6909487-GCC-AAG c.64_66delinsAAG p.A22K Missense 3/10 - 1
12-6909487-GCC-ATG c.64_66delinsATG p.A22M Missense 3/10 - 2
12-6909487-GCC-CAA c.64_66delinsCAA p.A22Q Missense 3/10 - 1
12-6909487-GC-CG c.64_65delinsCG p.A22R Missense 3/10 - 4
12-6909487-GC-CT c.64_65delinsCT p.A22L Missense 3/10 - 3
12-6909487-GCC-TAA c.64_66delinsTAA p.A22* Nonsense 3/10 - 1
12-6909487-GC-TA c.64_65delinsTA p.A22Y Missense 3/10 - 1
12-6909487-GC-TG c.64_65delinsTG p.A22C Missense 3/10 - 11
12-6909487-GC-TT c.64_65delinsTT p.A22F Missense 3/10 - 2
12-6909487-G-T c.64G>T p.A22S Missense 3/10 - 1
12-6909488-C-A c.65C>A p.A22D Missense 3/10 - 8
12-6909488-CC-AG c.65_66delinsAG p.A22E Missense 3/10 - 5
12-6909488-C-G c.65C>G p.A22G Missense 3/10 - 1
12-6909488-C-T c.65C>T p.A22V Missense 3/10 - 4
12-6909489-C-A c.66C>A p.A22= Synonymous 3/10 - 5
12-6909489-C-G c.66C>G p.A22= Synonymous 3/10 - 5
12-6909489-C-T c.66C>T p.A22= Synonymous 3/10 - 5
12-6909490-AC-CA c.67_68delinsCA p.T23H Missense 3/10 - 1
12-6909490-AC-GA c.67_68delinsGA p.T23D Missense 3/10 - 1
12-6909490-A-G c.67A>G p.T23A Missense 3/10 - 2
12-6909490-A-T c.67A>T p.T23S Missense 3/10 - 2
12-6909491-C-A c.68C>A p.T23N Missense 3/10 - 5
12-6909491-C-G c.68C>G p.T23S Missense 3/10 - 2
12-6909491-C-T c.68C>T p.T23I Missense 3/10 - 1
12-6909493-CA-GC c.70_71delinsGC p.Q24A Missense 3/10 - 2
12-6909493-C-G c.70C>G p.Q24E Missense 3/10 - 1
12-6909495-G-C c.72G>C p.Q24H Missense 3/10 - 64
12-6909495-G-T c.72G>T p.Q24H Missense 3/10 - 64
12-6909496-G-A c.73G>A p.G25R Missense 3/10 - 1
12-6909496-G-C c.73G>C p.G25R Missense 3/10 - 1
12-6909496-GG-AA c.73_74delinsAA p.G25K Missense 3/10 - 2
12-6909497-G-C c.74G>C p.G25A Missense 3/10 - 3
12-6909499-AA-GC c.76_77delinsGC p.K26A Missense 3/10 - 2
12-6909499-A-G c.76A>G p.K26E Missense 3/10 - 1
12-6909500-A-C c.77A>C p.K26T Missense 3/10 - 2
12-6909500-A-G c.77A>G p.K26R Missense 3/10 - 6
12-6909500-AG-GC c.77_78delinsGC p.K26S Missense 3/10 - 1
12-6909500-AG-TC c.77_78delinsTC p.K26I Missense 3/10 - 1
12-6909501-G-C c.78G>C p.K26N Missense 3/10 - 2
12-6909501-G-T c.78G>T p.K26N Missense 3/10 - 2
12-6909502-AA-GC c.79_80delinsGC p.K27A Missense 3/10 - 1
12-6909502-A-G c.79A>G p.K27E Missense 3/10 - 2
12-6909503-AA-TG c.80_81delinsTG p.K27M Missense 3/10 - 38
12-6909503-A-C c.80A>C p.K27T Missense 3/10 - 1
12-6909503-A-G c.80A>G p.K27R Missense 3/10 - 7
12-6909505-G-A c.82G>A p.V28M Missense 3/10 - 2
12-6909505-G-C c.82G>C p.V28L Missense 3/10 - 1
12-6909505-G-T c.82G>T p.V28L Missense 3/10 - 1
12-6909505-GT-AA c.82_83delinsAA p.V28K Missense 3/10 - 1
12-6909506-T-C c.83T>C p.V28A Missense 3/10 - 3
12-6909508-GTG-ATC c.85_87delinsATC p.V29I Missense 3/10 - 1
12-6909508-GTG-TTT c.85_87delinsTTT p.V29F Missense 3/10 - 1
12-6909509-T-C c.86T>C p.V29A Missense 3/10 - 3
12-6909511-C-G c.88C>G p.L30V Missense 3/10 - 1
12-6909511-CT-GA c.88_89delinsGA p.L30E Missense 3/10 - 3
12-6909511-CT-GC c.88_89delinsGC p.L30A Missense 3/10 - 2
12-6909512-T-G c.89T>G p.L30R Missense 3/10 - 5
12-6909514-G-A c.91G>A p.G31S Missense 3/10 - 1
12-6909514-G-C c.91G>C p.G31R Missense 3/10 - 2
12-6909514-GG-CC c.91_92inv p.G31P Missense 3/10 - 5
12-6909515-G-A c.92G>A p.G31D Missense 3/10 - 2
12-6909515-G-C c.92G>C p.G31A Missense 3/10 - 3
12-6909517-AA-CT c.94_95delinsCT p.K32L Missense 3/10 - 1
12-6909517-AA-GC c.94_95delinsGC p.K32A Missense 3/10 - 3
12-6909517-A-G c.94A>G p.K32E Missense 3/10 - 2
12-6909518-A-C c.95A>C p.K32T Missense 3/10 - 1
12-6909518-A-G c.95A>G p.K32R Missense 3/10 - 1
12-6909518-A-T c.95A>T p.K32I Missense 3/10 - 1
12-6909519-A-C c.96A>C p.K32N Missense 3/10 - 1
12-6909519-A-T c.96A>T p.K32N Missense 3/10 - 1
12-6909520-AAA-CAT c.97_99delinsCAT p.K33H Missense 3/10 - 2
12-6909520-AA-CC c.97_98delinsCC p.K33P Missense 3/10 - 1
12-6909520-AA-GC c.97_98delinsGC p.K33A Missense 3/10 - 8
12-6909520-A-C c.97A>C p.K33Q Missense 3/10 - 2
12-6909520-A-G c.97A>G p.K33E Missense 3/10 - 2
12-6909521-AA-GC c.98_99delinsGC p.K33S Missense 3/10 - 2
12-6909521-A-C c.98A>C p.K33T Missense 3/10 - 1
12-6909521-A-G c.98A>G p.K33R Missense 3/10 - 13
12-6909522-A-C c.99A>C p.K33N Missense 3/10 - 1
12-6909522-A-T c.99A>T p.K33N Missense 3/10 - 1
12-6909523-G-A c.100G>A p.G34R Missense 3/10 - 1
12-6909523-G-C c.100G>C p.G34R Missense 3/10 - 1
12-6909523-GG-AA c.100_101delinsAA p.G34K Missense 3/10 - 1
12-6909523-G-T c.100G>T p.G34W Missense 3/10 - 1
12-6909524-G-A c.101G>A p.G34E Missense 3/10 - 1
12-6909524-G-C c.101G>C p.G34A Missense 3/10 - 2
12-6909525-G-A c.102G>A p.G34= Synonymous 3/10 - 1
12-6909525-G-C c.102G>C p.G34= Synonymous 3/10 - 1
12-6909525-G-T c.102G>T p.G34= Synonymous 3/10 - 1
12-6909526-G-A c.103G>A p.D35N Missense 3/10 - 1
12-6909526-GA-AG c.103_104delinsAG p.D35S Missense 3/10 - 2
12-6909526-GA-TG c.103_104delinsTG p.D35C Missense 3/10 - 1
12-6909527-A-C c.104A>C p.D35A Missense 3/10 - 4
12-6909528-T-A c.105T>A p.D35E Missense 3/10 - 2
12-6909528-T-G c.105T>G p.D35E Missense 3/10 - 2
12-6909529-A-G c.106A>G p.T36A Missense 3/10 - 1
12-6909530-C-G c.107C>G p.T36R Missense 3/10 - 1
12-6909532-G-A c.109G>A p.V37M Missense 3/10 - 1
12-6909532-GTG-ATC c.109_111delinsATC p.V37I Missense 3/10 - 1
12-6909533-T-C c.110T>C p.V37A Missense 3/10 - 1
12-6909535-G-A c.112G>A p.E38K Missense 3/10 - 2
12-6909535-GAA-TTT c.112_114delinsTTT p.E38F Missense 3/10 - 3
12-6909535-G-T c.112G>T p.E38* Nonsense 3/10 - 1
12-6909536-A-C c.113A>C p.E38A Missense 3/10 - 4
12-6909536-A-G c.113A>G p.E38G Missense 3/10 - 1
12-6909537-A-C c.114A>C p.E38D Missense 3/10 - 2
12-6909537-A-G c.114A>G p.E38= Synonymous 3/10 - 1
12-6909537-A-T c.114A>T p.E38D Missense 3/10 - 2
12-6909538-CT-GC c.115_116delinsGC p.L39A Missense 3/10 - 1
12-6909541-AC-GA c.118_119delinsGA p.T40D Missense 3/10 - 1
12-6909541-AC-TG c.118_119delinsTG p.T40C Missense 3/10 - 1
12-6909541-A-G c.118A>G p.T40A Missense 3/10 - 5
12-6909542-CC-AG c.119_120delinsAG p.T40K Missense 3/10 - 2
12-6909542-C-T c.119C>T p.T40I Missense 3/10 - 1
12-6909544-T-A c.121T>A p.C41S Missense 3/10 - 3
12-6909544-TG-GA c.121_122delinsGA p.C41D Missense 3/10 - 1
12-6909544-TG-GC c.121_122delinsGC p.C41A Missense 3/10 - 1
12-6909544-TGT-GAG c.121_123delinsGAG p.C41E Missense 3/10 - 2
12-6909545-G-C c.122G>C p.C41S Missense 3/10 - 3
12-6909545-G-T c.122G>T p.C41F Missense 3/10 - 1
12-6909548-C-T c.125C>T p.T42I Missense 3/10 - 1
12-6909550-G-C c.127G>C p.A43P Missense 3/10 - 1
12-6909550-GC-AA c.127_128delinsAA p.A43N Missense 3/10 - 1
12-6909550-GC-CG c.127_128delinsCG p.A43R Missense 3/10 - 2
12-6909550-GC-TA c.127_128delinsTA p.A43Y Missense 3/10 - 1
12-6909550-GC-TG c.127_128delinsTG p.A43C Missense 3/10 - 7
12-6909550-GC-TT c.127_128delinsTT p.A43F Missense 3/10 - 3
12-6909550-GCT-TAA c.127_129delinsTAA p.A43* Nonsense 3/10 - 1
12-6909550-G-T c.127G>T p.A43S Missense 3/10 - 1
12-6909551-C-A c.128C>A p.A43D Missense 3/10 - 6
12-6909551-C-T c.128C>T p.A43V Missense 3/10 - 1
12-6909551-CT-AG c.128_129inv p.A43E Missense 3/10 - 5
12-6909552-T-A c.129T>A p.A43= Synonymous 3/10 - 2
12-6909552-T-C c.129T>C p.A43= Synonymous 3/10 - 2
12-6909552-T-G c.129T>G p.A43= Synonymous 3/10 - 2
12-6909553-T-G c.130T>G p.S44A Missense 3/10 - 3
12-6909558-G-C c.135G>C p.Q45H Missense 3/10 - 1
12-6909558-G-T c.135G>T p.Q45H Missense 3/10 - 1
12-6909559-AA-GC c.136_137delinsGC p.K46A Missense 3/10 - 4
12-6909559-A-C c.136A>C p.K46Q Missense 3/10 - 2
12-6909560-A-G c.137A>G p.K46R Missense 3/10 - 3
12-6909560-A-T c.137A>T p.K46M Missense 3/10 - 3
12-6909562-AAG-GAC c.139_141delinsGAC p.K47D Missense 3/10 - 1
12-6909562-A-C c.139A>C p.K47Q Missense 3/10 - 1
12-6909565-A-G c.142A>G p.S48G Missense 3/10 - 1
12-6909565-AGC-CAA c.142_144delinsCAA p.S48Q Missense 3/10 - 1
12-6909565-AGC-GAG c.142_144delinsGAG p.S48E Missense 3/10 - 1
12-6909566-G-A c.143G>A p.S48N Missense 3/10 - 1
12-6909566-G-C c.143G>C p.S48T Missense 3/10 - 9
12-6909568-ATA-GAC c.145_147delinsGAC p.I49D Missense 3/10 - 1
12-6909568-AT-GA c.145_146delinsGA p.I49E Missense 3/10 - 1
12-6909568-AT-GC c.145_146delinsGC p.I49A Missense 3/10 - 2
12-6909569-T-C c.146T>C p.I49T Missense 3/10 - 1
12-6909571-CAA-TAT c.148_150delinsTAT p.Q50Y Missense 3/10 - 2
12-6909571-C-G c.148C>G p.Q50E Missense 3/10 - 2
12-6909574-TT-GC c.151_152delinsGC p.F51A Missense 3/10 - 1
12-6909576-C-T c.153C>T p.F51= Synonymous 3/10 - 1
12-6909577-CA-AG c.154_155delinsAG p.H52S Missense 3/10 - 1
12-6909577-CA-GC c.154_155delinsGC p.H52A Missense 3/10 - 2
12-6909578-A-T c.155A>T p.H52L Missense 3/10 - 1
12-6909580-T-A c.157T>A p.W53R Missense 3/10 - 1
12-6909580-T-C c.157T>C p.W53R Missense 3/10 - 1
12-6909580-TG-GC c.157_158delinsGC p.W53A Missense 3/10 - 1
12-6909583-AAA-GAC c.160_162delinsGAC p.K54D Missense 3/10 - 1
12-6909584-A-G c.161A>G p.K54R Missense 3/10 - 1
12-6909586-A-C c.163A>C p.N55H Missense 3/10 - 1
12-6909588-C-A c.165C>A p.N55K Missense 3/10 - 1
12-6909588-C-G c.165C>G p.N55K Missense 3/10 - 1
12-6909588-C-T c.165C>T p.N55= Synonymous 3/10 - 1
12-6909589-TC-AA c.166_167delinsAA p.S56N Missense 3/10 - 6
12-6909589-TC-AT c.166_167delinsAT p.S56I Missense 3/10 - 1
12-6909589-TCC-AAG c.166_168delinsAAG p.S56K Missense 3/10 - 1
12-6909589-TC-CG c.166_167delinsCG p.S56R Missense 3/10 - 1
12-6909589-TC-GA c.166_167inv p.S56D Missense 3/10 - 3
12-6909589-TC-GG c.166_167delinsGG p.S56G Missense 3/10 - 1
12-6909589-T-G c.166T>G p.S56A Missense 3/10 - 4
12-6909591-C-T c.168C>T p.S56= Synonymous 3/10 - 1
12-6909592-AA-GC c.169_170delinsGC p.N57A Missense 3/10 - 7
12-6909592-A-G c.169A>G p.N57D Missense 3/10 - 1
12-6909593-A-G c.170A>G p.N57S Missense 3/10 - 2
12-6909595-C-A c.172C>A p.Q58K Missense 3/10 - 2
12-6909595-C-G c.172C>G p.Q58E Missense 3/10 - 59
12-6909595-C-T c.172C>T p.Q58* Nonsense 3/10 - 1
12-6909597-G-A c.174G>A p.Q58= Synonymous 3/10 - 1
12-6909598-A-G c.175A>G p.I59V Missense 3/10 - 2
12-6909601-AA-GC c.178_179delinsGC p.K60A Missense 3/10 - 2
12-6909602-A-G c.179A>G p.K60R Missense 3/10 - 3
12-6909604-A-C c.181A>C p.I61L Missense 3/10 - 1
12-6909605-TT-GG c.182_183delinsGG p.I61R Missense 3/10 - 1
12-6909607-CT-GC c.184_185delinsGC p.L62A Missense 3/10 - 4
12-6909608-T-G c.185T>G p.L62R Missense 3/10 - 1
12-6909610-G-A c.187G>A p.G63R Missense 3/10 - 2
12-6909610-G-C c.187G>C p.G63R Missense 3/10 - 2
12-6909610-GG-AA c.187_188delinsAA p.G63K Missense 3/10 - 1
12-6909610-GGA-AGC c.187_189delinsAGC p.G63S Missense 3/10 - 2
12-6909610-GGA-TGT c.187_189delinsTGT p.G63C Missense 3/10 - 1
12-6909608-TG-T c.188del p.G63Efs*7 Frameshift 3/10 - 1
12-6909611-GA-AC c.188_189delinsAC p.G63D Missense 3/10 - 1
12-6909613-A-G c.190A>G p.N64D Missense 3/10 - 1
12-6909614-A-G c.191A>G p.N64S Missense 3/10 - 2
12-6909614-A-T c.191A>T p.N64I Missense 3/10 - 1
12-6909616-C-G c.193C>G p.Q65E Missense 3/10 - 2
12-6909616-C-T c.193C>T p.Q65* Nonsense 3/10 - 1
12-6909617-A-G c.194A>G p.Q65R Missense 3/10 - 20
12-6909618-G-C c.195G>C p.Q65H Missense 3/10 - 1
12-6909618-G-T c.195G>T p.Q65H Missense 3/10 - 1
12-6909619-G-A c.196G>A p.G66S Missense 3/10 - 1
12-6909620-G-C c.197G>C p.G66A Missense 3/10 - 1
12-6909622-TC-CG c.199_200delinsCG p.S67R Missense 3/10 - 3
12-6909622-TC-GA c.199_200inv p.S67D Missense 3/10 - 1
12-6909622-T-G c.199T>G p.S67A Missense 3/10 - 2
12-6909623-C-T c.200C>T p.S67F Missense 3/10 - 1
12-6909625-T-A c.202T>A p.F68I Missense 3/10 - 1
12-6909625-T-G c.202T>G p.F68V Missense 3/10 - 1
12-6909625-TTC-GAG c.202_204delinsGAG p.F68E Missense 3/10 - 1
12-6909625-TT-GA c.202_203delinsGA p.F68D Missense 3/10 - 5
12-6909625-TT-GC c.202_203delinsGC p.F68A Missense 3/10 - 6
12-6909626-T-A c.203T>A p.F68Y Missense 3/10 - 1
12-6909626-T-C c.203T>C p.F68S Missense 3/10 - 2
12-6909626-T-G c.203T>G p.F68C Missense 3/10 - 2
12-6909627-C-T c.204C>T p.F68= Synonymous 3/10 - 2
12-6909628-TT-AG c.205_206delinsAG p.L69R Missense 3/10 - 1
12-6909628-TT-GC c.205_206delinsGC p.L69A Missense 3/10 - 2
12-6909629-TA-GG c.206_207delinsGG p.L69W Missense 3/10 - 1
12-6909631-A-T c.208A>T p.T70S Missense 3/10 - 1
12-6909632-CT-TG c.209_210delinsTG p.T70M Missense 3/10 - 1
12-6909633-CT-C c.210del p.G72Vfs*5 Frameshift 3/10 - 1
12-6909634-A-C c.211A>C p.K71Q Missense 3/10 - 2
12-6909634-A-G c.211A>G p.K71E Missense 3/10 - 2
12-6909634-A-T c.211A>T p.K71* Nonsense 3/10 - 1
12-6909635-AA-TG c.212_213delinsTG p.K71M Missense 3/10 - 1
12-6909635-A-G c.212A>G p.K71R Missense 3/10 - 7
12-6909636-A-C c.213A>C p.K71N Missense 3/10 - 2
12-6909636-A-T c.213A>T p.K71N Missense 3/10 - 2
12-6915906-G-A c.214+6269G>A - IntronicSNV - 3/9 1
12-6919319-G-C c.215-3989G>C - IntronicSNV - 3/9 1
12-6922494-A-T c.215-814A>T - IntronicSNV - 3/9 1
12-6923018-G-A c.215-290G>A - IntronicSNV - 3/9 1
12-6923286-C-A c.215-22C>A - IntronicSNV - 3/9 1
12-6923286-C-G c.215-22C>G - IntronicSNV - 3/9 1
12-6923286-C-T c.215-22C>T - IntronicSNV - 3/9 1
12-6923308-GT-AG c.215_216delinsAG p.G72E Missense 4/10 - 1
12-6923310-C-G c.217C>G p.P73A Missense 4/10 - 2
12-6923311-CA-AT c.218_219delinsAT p.P73H Missense 4/10 - 1
12-6923313-T-A c.220T>A p.S74T Missense 4/10 - 1
12-6923313-TC-AA c.220_221delinsAA p.S74N Missense 4/10 - 1
12-6923313-TC-CG c.220_221delinsCG p.S74R Missense 4/10 - 2
12-6923313-TCC-GAG c.220_222delinsGAG p.S74E Missense 4/10 - 1
12-6923313-TC-GA c.220_221inv p.S74D Missense 4/10 - 3
12-6923313-T-G c.220T>G p.S74A Missense 4/10 - 2
12-6923314-C-A c.221C>A p.S74Y Missense 4/10 - 1
12-6923314-C-G c.221C>G p.S74C Missense 4/10 - 1
12-6923315-C-T c.222C>T p.S74= Synonymous 4/10 - 1
12-6923317-A-C c.224A>C p.K75T Missense 4/10 - 2
12-6923317-A-G c.224A>G p.K75R Missense 4/10 - 1
12-6923318-G-C c.225G>C p.K75N Missense 4/10 - 1
12-6923318-G-T c.225G>T p.K75N Missense 4/10 - 1
12-6923319-C-A c.226C>A p.L76M Missense 4/10 - 4
12-6923319-C-G c.226C>G p.L76V Missense 4/10 - 73
12-6923319-CT-AC c.226_227delinsAC p.L76T Missense 4/10 - 2
12-6923319-CT-TA c.226_227delinsTA p.L76* Nonsense 4/10 - 1
12-6923319-CT-TG c.226_227delinsTG p.L76W Missense 4/10 - 1
12-6923320-T-C c.227T>C p.L76P Missense 4/10 - 1
12-6923322-AA-GT c.229_230delinsGT p.N77V Missense 4/10 - 1
12-6923322-AAT-CAA c.229_231delinsCAA p.N77Q Missense 4/10 - 1
12-6923325-G-A c.232G>A p.D78N Missense 4/10 - 1
12-6923325-GA-TG c.232_233delinsTG p.D78C Missense 4/10 - 2
12-6923326-A-C c.233A>C p.D78A Missense 4/10 - 4
12-6923326-A-T c.233A>T p.D78V Missense 4/10 - 1
12-6923327-T-A c.234T>A p.D78E Missense 4/10 - 2
12-6923327-T-C c.234T>C p.D78= Synonymous 4/10 - 1
12-6923327-T-G c.234T>G p.D78E Missense 4/10 - 2
12-6923328-CGC-GAG c.235_237delinsGAG p.R79E Missense 4/10 - 3
12-6923328-CG-GC c.235_236delinsGC p.R79A Missense 4/10 - 2
12-6923328-C-T c.235C>T p.R79C Missense 4/10 - 1
12-6923329-G-T c.236G>T p.R79L Missense 4/10 - 1
12-6923331-G-A c.238G>A p.A80T Missense 4/10 - 1
12-6923331-G-C c.238G>C p.A80P Missense 4/10 - 1
12-6923331-GC-AA c.238_239delinsAA p.A80N Missense 4/10 - 1
12-6923331-GC-CT c.238_239delinsCT p.A80L Missense 4/10 - 1
12-6923331-GC-TA c.238_239delinsTA p.A80Y Missense 4/10 - 1
12-6923331-GCT-AAG c.238_240delinsAAG p.A80K Missense 4/10 - 1
12-6923331-GCT-ATG c.238_240delinsATG p.A80M Missense 4/10 - 1
12-6923331-GCT-CAA c.238_240delinsCAA p.A80Q Missense 4/10 - 1
12-6923331-GC-TG c.238_239delinsTG p.A80C Missense 4/10 - 3
12-6923331-GC-TT c.238_239delinsTT p.A80F Missense 4/10 - 3
12-6923332-C-A c.239C>A p.A80D Missense 4/10 - 5
12-6923332-C-G c.239C>G p.A80G Missense 4/10 - 1
12-6923332-C-T c.239C>T p.A80V Missense 4/10 - 3
12-6923332-CT-AG c.239_240inv p.A80E Missense 4/10 - 2
12-6923333-T-A c.240T>A p.A80= Synonymous 4/10 - 6
12-6923333-T-C c.240T>C p.A80= Synonymous 4/10 - 6
12-6923333-T-G c.240T>G p.A80= Synonymous 4/10 - 6
12-6923335-A-C c.242A>C p.D81A Missense 4/10 - 5
12-6923336-C-T c.243C>T p.D81= Synonymous 4/10 - 3
12-6923337-T-C c.244T>C p.S82P Missense 4/10 - 1
12-6923337-TCA-AAC c.244_246delinsAAC p.S82N Missense 4/10 - 1
12-6923337-T-G c.244T>G p.S82A Missense 4/10 - 1
12-6923338-CA-TT c.245_246delinsTT p.S82F Missense 4/10 - 3
12-6923338-C-T c.245C>T p.S82L Missense 4/10 - 1
12-6923340-AGA-TGT c.247_249delinsTGT p.R83C Missense 4/10 - 1
12-6923341-G-A c.248G>A p.R83K Missense 4/10 - 6
12-6923340-A-C c.247A>C p.R83= Synonymous 4/10 - 1
12-6923342-A-G c.249A>G p.R83= Synonymous 4/10 - 1
12-6923343-AG-CA c.250_251delinsCA p.R84Q Missense 4/10 - 1
12-6923343-AG-GC c.250_251delinsGC p.R84A Missense 4/10 - 1
12-6923346-AG-GC c.253_254delinsGC p.S85A Missense 4/10 - 1
12-6923349-C-G c.256C>G p.L86V Missense 4/10 - 1
12-6923349-C-T c.256C>T p.L86F Missense 4/10 - 2
12-6923349-CT-GC c.256_257delinsGC p.L86A Missense 4/10 - 2
12-6923349-CTT-TGG c.256_258delinsTGG p.L86W Missense 4/10 - 1
12-6923352-T-C c.259T>C p.W87R Missense 4/10 - 1
12-6923355-GA-CG c.262_263delinsCG p.D88R Missense 4/10 - 1
12-6923355-GA-TT c.262_263delinsTT p.D88F Missense 4/10 - 1
12-6923355-G-C c.262G>C p.D88H Missense 4/10 - 2
12-6923356-A-C c.263A>C p.D88A Missense 4/10 - 4
12-6923357-C-A c.264C>A p.D88E Missense 4/10 - 1
12-6923357-C-G c.264C>G p.D88E Missense 4/10 - 1
12-6923357-C-T c.264C>T p.D88= Synonymous 4/10 - 1
12-6923358-CAA-AAC c.265_267delinsAAC p.Q89N Missense 4/10 - 1
12-6923358-CA-GC c.265_266delinsGC p.Q89A Missense 4/10 - 1
12-6923360-A-C c.267A>C p.Q89H Missense 4/10 - 3
12-6923360-A-T c.267A>T p.Q89H Missense 4/10 - 3
12-6923360-AG-A c.269del p.G90Efs*5 Frameshift 4/10 - 1
12-6923362-GA-AC c.269_270delinsAC p.G90D Missense 4/10 - 1
12-6923364-AA-TG c.271_272delinsTG p.N91C Missense 4/10 - 1
12-6923364-A-G c.271A>G p.N91D Missense 4/10 - 2
12-6923367-TTT-GAG c.274_276delinsGAG p.F92E Missense 4/10 - 1
12-6923368-T-G c.275T>G p.F92C Missense 4/10 - 1
12-6923369-T-C c.276T>C p.F92= Synonymous 4/10 - 1
12-6923370-C-A c.277C>A p.P93T Missense 4/10 - 1
12-6923370-C-G c.277C>G p.P93A Missense 4/10 - 2
12-6923373-CTG-GAC c.280_282delinsGAC p.L94D Missense 4/10 - 1
12-6923374-T-C c.281T>C p.L94P Missense 4/10 - 1
12-6923374-T-G c.281T>G p.L94R Missense 4/10 - 1
12-6923376-A-G c.283A>G p.I95V Missense 4/10 - 1
12-6923376-AT-GC c.283_284delinsGC p.I95A Missense 4/10 - 1
12-6923378-C-A c.285C>A p.I95= Synonymous 4/10 - 1
12-6923378-C-T c.285C>T p.I95= Synonymous 4/10 - 1
12-6923379-AT-GC c.286_287delinsGC p.I96A Missense 4/10 - 1
12-6923380-TC-GG c.287_288delinsGG p.I96R Missense 4/10 - 1
12-6923382-AA-GC c.289_290delinsGC p.K97A Missense 4/10 - 7
12-6923382-A-C c.289A>C p.K97Q Missense 4/10 - 1
12-6923382-A-T c.289A>T p.K97* Nonsense 4/10 - 1
12-6923383-A-C c.290A>C p.K97T Missense 4/10 - 1
12-6923383-AG-TC c.290_291delinsTC p.K97I Missense 4/10 - 1
12-6923383-A-T c.290A>T p.K97M Missense 4/10 - 2
12-6923385-AA-GC c.292_293delinsGC p.N98A Missense 4/10 - 2
12-6923385-A-C c.292A>C p.N98H Missense 4/10 - 1
12-6923386-A-C c.293A>C p.N98T Missense 4/10 - 1
12-6923386-A-T c.293A>T p.N98I Missense 4/10 - 1
12-6923388-C-T c.295C>T p.L99F Missense 4/10 - 7
12-6923388-CTT-ATG c.295_297delinsATG p.L99M Missense 4/10 - 1
12-6923388-CT-TG c.295_296delinsTG p.L99C Missense 4/10 - 1
12-6923389-T-A c.296T>A p.L99H Missense 4/10 - 1
12-6923389-TT-AA c.296_297inv p.L99Q Missense 4/10 - 1
12-6923390-T-A c.297T>A p.L99= Synonymous 4/10 - 2
12-6923390-T-C c.297T>C p.L99= Synonymous 4/10 - 2
12-6923390-T-G c.297T>G p.L99= Synonymous 4/10 - 2
12-6923391-AA-GC c.298_299delinsGC p.K100A Missense 4/10 - 3
12-6923391-AAG-TTT c.298_300delinsTTT p.K100F Missense 4/10 - 1
12-6923391-A-G c.298A>G p.K100E Missense 4/10 - 2
12-6923392-AG-GC c.299_300delinsGC p.K100S Missense 4/10 - 1
12-6923392-A-T c.299A>T p.K100M Missense 4/10 - 2
12-6923394-A-G c.301A>G p.I101V Missense 4/10 - 3
12-6923397-G-A c.304G>A p.E102K Missense 4/10 - 4
12-6923398-A-C c.305A>C p.E102A Missense 4/10 - 7
12-6923399-A-C c.306A>C p.E102D Missense 4/10 - 1
12-6923399-A-T c.306A>T p.E102D Missense 4/10 - 1
12-6923402-C-T c.309C>T p.D103= Synonymous 4/10 - 1
12-6923403-T-C c.310T>C p.S104P Missense 4/10 - 4
12-6923407-A-C c.314A>C p.D105A Missense 4/10 - 1
12-6923407-A-G c.314A>G p.D105G Missense 4/10 - 1
12-6923409-AC-TG c.316_317delinsTG p.T106C Missense 4/10 - 1
12-6923409-ACT-GAG c.316_318delinsGAG p.T106E Missense 4/10 - 1
12-6923409-A-G c.316A>G p.T106A Missense 4/10 - 1
12-6923410-CT-TG c.317_318delinsTG p.T106M Missense 4/10 - 1
12-6923412-T-C c.319T>C p.Y107H Missense 4/10 - 1
12-6923415-A-G c.322A>G p.I108V Missense 4/10 - 2
12-6923415-AT-GC c.322_323delinsGC p.I108A Missense 4/10 - 1
12-6923418-T-A c.325T>A p.C109S Missense 4/10 - 1
12-6923419-G-C c.326G>C p.C109S Missense 4/10 - 1
12-6923421-G-A c.328G>A p.E110K Missense 4/10 - 2
12-6923421-GAA-CAT c.328_330delinsCAT p.E110H Missense 4/10 - 1
12-6923421-G-T c.328G>T p.E110* Nonsense 4/10 - 1
12-6923424-GT-AA c.331_332delinsAA p.V111K Missense 4/10 - 1
12-6923424-GTG-ATC c.331_333delinsATC p.V111I Missense 4/10 - 7
12-6923427-G-A c.334G>A p.E112K Missense 4/10 - 9
12-6923427-G-T c.334G>T p.E112* Nonsense 4/10 - 1
12-6923430-G-A c.337G>A p.D113N Missense 4/10 - 2
12-6923430-GA-TG c.337_338delinsTG p.D113C Missense 4/10 - 1
12-6923431-A-C c.338A>C p.D113A Missense 4/10 - 5
12-6923432-C-A c.339C>A p.D113E Missense 4/10 - 2
12-6923432-C-G c.339C>G p.D113E Missense 4/10 - 2
12-6923433-CAG-AAC c.340_342delinsAAC p.Q114N Missense 4/10 - 2
12-6923433-CA-GC c.340_341delinsGC p.Q114A Missense 4/10 - 1
12-6923433-C-T c.340C>T p.Q114* Nonsense 4/10 - 1
12-6923434-A-T c.341A>T p.Q114L Missense 4/10 - 3
12-6923439-G-A c.346G>A p.E116K Missense 4/10 - 1
12-6923439-GA-AT c.346_347delinsAT p.E116M Missense 4/10 - 1
12-6923439-GA-CT c.346_347delinsCT p.E116L Missense 4/10 - 1
12-6923439-GAG-ATC c.346_348delinsATC p.E116I Missense 4/10 - 1
12-6923439-GAG-TAT c.346_348delinsTAT p.E116Y Missense 4/10 - 1
12-6923439-GAG-TTT c.346_348delinsTTT p.E116F Missense 4/10 - 1
12-6923439-GA-TG c.346_347delinsTG p.E116W Missense 4/10 - 1
12-6923440-A-T c.347A>T p.E116V Missense 4/10 - 1
12-6923443-A-C c.350A>C p.E117A Missense 4/10 - 1
12-6923445-G-C c.352G>C p.V118L Missense 4/10 - 1
12-6923445-G-T c.352G>T p.V118L Missense 4/10 - 1
12-6923445-GTG-AAC c.352_354delinsAAC p.V118N Missense 4/10 - 1
12-6923445-GTG-ATC c.352_354delinsATC p.V118I Missense 4/10 - 123
12-6923445-GTG-TGT c.352_354delinsTGT p.V118C Missense 4/10 - 2
12-6923445-GTG-TTT c.352_354delinsTTT p.V118F Missense 4/10 - 1
12-6923446-TG-AC c.353_354delinsAC p.V118D Missense 4/10 - 1
12-6923447-G-A c.354G>A p.V118= Synonymous 4/10 - 1
12-6923447-G-C c.354G>C p.V118= Synonymous 4/10 - 1
12-6923447-G-T c.354G>T p.V118= Synonymous 4/10 - 1
12-6923448-CAA-GAC c.355_357delinsGAC p.Q119D Missense 4/10 - 1
12-6923448-CA-GC c.355_356delinsGC p.Q119A Missense 4/10 - 1
12-6923448-CA-GG c.355_356delinsGG p.Q119G Missense 4/10 - 1
12-6923448-C-G c.355C>G p.Q119E Missense 4/10 - 1
12-6923449-A-G c.356A>G p.Q119R Missense 4/10 - 1
12-6923449-A-T c.356A>T p.Q119L Missense 4/10 - 1
12-6923450-A-C c.357A>C p.Q119H Missense 4/10 - 1
12-6923450-A-T c.357A>T p.Q119H Missense 4/10 - 1
12-6923451-T-G c.358T>G p.L120V Missense 4/10 - 1
12-6923452-T-C c.359T>C p.L120S Missense 4/10 - 1
12-6923452-TG-GT c.359_360delinsGT p.L120C Missense 4/10 - 17
12-6923453-G-C c.360G>C p.L120F Missense 4/10 - 1
12-6923453-G-T c.360G>T p.L120F Missense 4/10 - 1
12-6923455-T-A c.362T>A p.L121Q Missense 4/10 - 1
12-6923457-GTG-ATC c.364_366delinsATC p.V122I Missense 4/10 - 2
12-6923459-TG-T c.366del p.F123Sfs*3 Frameshift 4/10 - 1
12-6923462-C-A c.369C>A p.F123L Missense 4/10 - 1
12-6923464-GA-AC c.371_372delinsAC p.G124D Missense 4/10 - 1
12-6923925-T-C c.374T>C p.L125S Missense 5/10 - 1
12-6923926-G-C c.375G>C p.L125F Missense 5/10 - 5
12-6923926-G-T c.375G>T p.L125F Missense 5/10 - 5
12-6923930-G-A c.379G>A p.A127T Missense 5/10 - 1
12-6923933-A-G c.382A>G p.N128D Missense 5/10 - 1
12-6923934-A-C c.383A>C p.N128T Missense 5/10 - 1
12-6923936-TC-AA c.385_386delinsAA p.S129N Missense 5/10 - 2
12-6923936-TC-GA c.385_386inv p.S129D Missense 5/10 - 3
12-6923936-T-G c.385T>G p.S129A Missense 5/10 - 2
12-6923939-G-A c.388G>A p.D130N Missense 5/10 - 2
12-6923939-GAC-AAG c.388_390delinsAAG p.D130K Missense 5/10 - 1
12-6923940-A-C c.389A>C p.D130A Missense 5/10 - 2
12-6923942-A-G c.391A>G p.T131A Missense 5/10 - 2
12-6923945-C-T c.394C>T p.H132Y Missense 5/10 - 1
12-6923947-C-A c.396C>A p.H132Q Missense 5/10 - 1
12-6923947-C-G c.396C>G p.H132Q Missense 5/10 - 1
12-6923948-C-T c.397C>T p.L133= Synonymous 5/10 - 1
12-6923950-G-A c.399G>A p.L133= Synonymous 5/10 - 1
12-6923950-G-C c.399G>C p.L133= Synonymous 5/10 - 1
12-6923950-G-T c.399G>T p.L133= Synonymous 5/10 - 1
12-6923951-CT-GA c.400_401delinsGA p.L134D Missense 5/10 - 1
12-6923951-CT-GC c.400_401delinsGC p.L134A Missense 5/10 - 1
12-6923953-T-A c.402T>A p.L134= Synonymous 5/10 - 1
12-6923953-T-C c.402T>C p.L134= Synonymous 5/10 - 2
12-6923953-T-G c.402T>G p.L134= Synonymous 5/10 - 1
12-6923954-C-A c.403C>A p.Q135K Missense 5/10 - 1
12-6923957-G-A c.406G>A p.G136R Missense 5/10 - 1
12-6923957-G-C c.406G>C p.G136R Missense 5/10 - 1
12-6923957-GG-AC c.406_407delinsAC p.G136T Missense 5/10 - 1
12-6923960-C-G c.409C>G p.Q137E Missense 5/10 - 1
12-6923963-A-G c.412A>G p.S138G Missense 5/10 - 3
12-6923963-AG-CA c.412_413delinsCA p.S138H Missense 5/10 - 1
12-6923963-AG-CC c.412_413delinsCC p.S138P Missense 5/10 - 1
12-6923963-AGC-CAA c.412_414delinsCAA p.S138Q Missense 5/10 - 1
12-6923963-AGC-GAG c.412_414delinsGAG p.S138E Missense 5/10 - 1
12-6923963-AG-CT c.412_413inv p.S138L Missense 5/10 - 1
12-6923963-AGC-TGA c.412_414delinsTGA p.S138* Nonsense 5/10 - 1
12-6923963-AGC-TGG c.412_414delinsTGG p.S138W Missense 5/10 - 1
12-6923963-AG-GA c.412_413delinsGA p.S138D Missense 5/10 - 1
12-6923963-AG-GC c.412_413delinsGC p.S138A Missense 5/10 - 20
12-6923963-AG-GT c.412_413delinsGT p.S138V Missense 5/10 - 1
12-6923963-AG-TA c.412_413delinsTA p.S138Y Missense 5/10 - 1
12-6923963-AG-TT c.412_413delinsTT p.S138F Missense 5/10 - 1
12-6923964-G-A c.413G>A p.S138N Missense 5/10 - 1
12-6923964-G-C c.413G>C p.S138T Missense 5/10 - 1
12-6923964-GC-AG c.413_414delinsAG p.S138K Missense 5/10 - 1
12-6923964-GC-TG c.413_414delinsTG p.S138M Missense 5/10 - 1
12-6923964-G-T c.413G>T p.S138I Missense 5/10 - 1
12-6923963-A-C c.412A>C p.S138R Missense 5/10 - 1
12-6923965-C-A c.414C>A p.S138R Missense 5/10 - 2
12-6923965-C-G c.414C>G p.S138R Missense 5/10 - 1
12-6923967-T-C c.416T>C p.L139P Missense 5/10 - 1
12-6923967-T-G c.416T>G p.L139R Missense 5/10 - 1
12-6923966-C-T c.415C>T p.L139= Synonymous 5/10 - 2
12-6923968-G-A c.417G>A p.L139= Synonymous 5/10 - 1
12-6923968-G-C c.417G>C p.L139= Synonymous 5/10 - 1
12-6923968-G-T c.417G>T p.L139= Synonymous 5/10 - 1
12-6923969-AC-GA c.418_419delinsGA p.T140D Missense 5/10 - 1
12-6923970-C-T c.419C>T p.T140I Missense 5/10 - 1
12-6923972-C-A c.421C>A p.L141M Missense 5/10 - 1
12-6923972-CCTG-C c.421_423del p.L141del InFrameDeletion 5/10 - 1
12-6923972-C-G c.421C>G p.L141V Missense 5/10 - 1
12-6923972-CT-TG c.421_422delinsTG p.L141W Missense 5/10 - 1
12-6923978-TT-CA c.427_428delinsCA p.L143Q Missense 5/10 - 1
12-6923984-AG-GC c.433_434delinsGC p.S145A Missense 5/10 - 2
12-6923985-G-A c.434G>A p.S145N Missense 5/10 - 1
12-6923987-C-G c.436C>G p.P146A Missense 5/10 - 3
12-6923987-C-T c.436C>T p.P146S Missense 5/10 - 2
12-6923988-C-G c.437C>G p.P146R Missense 5/10 - 1
12-6923990-C-G c.439C>G p.P147A Missense 5/10 - 1
12-6923991-C-T c.440C>T p.P147L Missense 5/10 - 1
12-6923993-G-C c.442G>C p.G148R Missense 5/10 - 3
12-6923993-GG-CA c.442_443delinsCA p.G148H Missense 5/10 - 1
12-6923994-G-C c.443G>C p.G148A Missense 5/10 - 1
12-6923994-G-T c.443G>T p.G148V Missense 5/10 - 4
12-6923994-G-GT c.444dup p.S149* Nonsense 5/10 - 1
12-6923996-AG-CC c.445_446delinsCC p.S149P Missense 5/10 - 1
12-6923996-AG-GC c.445_446delinsGC p.S149A Missense 5/10 - 2
12-6923996-AGT-GAG c.445_447delinsGAG p.S149E Missense 5/10 - 1
12-6923997-G-A c.446G>A p.S149N Missense 5/10 - 1
12-6924002-C-G c.451C>G p.P151A Missense 5/10 - 1
12-6924002-C-T c.451C>T p.P151S Missense 5/10 - 1
12-6924003-C-T c.452C>T p.P151L Missense 5/10 - 1
12-6924005-T-G c.454T>G p.S152A Missense 5/10 - 1
12-6924006-CA-GG c.455_456delinsGG p.S152W Missense 5/10 - 1
12-6924008-G-A c.457G>A p.V153M Missense 5/10 - 1
12-6924008-G-C c.457G>C p.V153L Missense 5/10 - 2
12-6924008-G-T c.457G>T p.V153L Missense 5/10 - 2
12-6924008-GTG-AAC c.457_459delinsAAC p.V153N Missense 5/10 - 1
12-6924008-GT-TA c.457_458delinsTA p.V153* Nonsense 5/10 - 3
12-6924011-CA-TC c.460_461delinsTC p.Q154S Missense 5/10 - 1
12-6924017-AG-CA c.466_467delinsCA p.R156Q Missense 5/10 - 1
12-6924017-AG-GA c.466_467delinsGA p.R156E Missense 5/10 - 1
12-6924017-AGG-CAT c.466_468delinsCAT p.R156H Missense 5/10 - 1
12-6924018-GG-AC c.467_468delinsAC p.R156N Missense 5/10 - 1
12-6924020-AG-GC c.469_470delinsGC p.S157A Missense 5/10 - 1
12-6924026-AG-GC c.475_476delinsGC p.R159A Missense 5/10 - 1
12-6924027-G-T c.476G>T p.R159M Missense 5/10 - 1
12-6924033-A-G c.482A>G p.K161R Missense 5/10 - 3
12-6924035-AA-CC c.484_485delinsCC p.N162P Missense 5/10 - 1
12-6924035-A-C c.484A>C p.N162H Missense 5/10 - 1
12-6924036-A-C c.485A>C p.N162T Missense 5/10 - 1
12-6924036-A-G c.485A>G p.N162S Missense 5/10 - 1
12-6924047-G-A c.496G>A p.G166R Missense 5/10 - 1
12-6924047-G-C c.496G>C p.G166R Missense 5/10 - 1
12-6924042-AG-A c.498del p.K167Rfs*31 Frameshift 5/10 - 1
12-6924049-G-A c.498G>A p.G166= Synonymous 5/10 - 1
12-6924049-G-C c.498G>C p.G166= Synonymous 5/10 - 1
12-6924049-G-GT c.498_499insT p.K167* Nonsense 5/10 - 1
12-6924049-G-T c.498G>T p.G166= Synonymous 5/10 - 1
12-6924050-AA-GC c.499_500delinsGC p.K167A Missense 5/10 - 1
12-6924052-G-C c.501G>C p.K167N Missense 5/10 - 2
12-6924052-G-T c.501G>T p.K167N Missense 5/10 - 2
12-6924053-A-T c.502A>T p.T168S Missense 5/10 - 1
12-6924054-C-G c.503C>G p.T168S Missense 5/10 - 1
12-6924056-C-A c.505C>A p.L169I Missense 5/10 - 1
12-6924056-C-T c.505C>T p.L169F Missense 5/10 - 2
12-6924056-CTC-AAG c.505_507delinsAAG p.L169K Missense 5/10 - 1
12-6924059-TC-AA c.508_509delinsAA p.S170N Missense 5/10 - 1
12-6924062-GTG-ATC c.511_513delinsATC p.V171I Missense 5/10 - 1
12-6924063-T-C c.512T>C p.V171A Missense 5/10 - 1
12-6924065-T-A c.514T>A p.S172T Missense 5/10 - 1
12-6924066-C-T c.515C>T p.S172F Missense 5/10 - 1
12-6924068-C-A c.517C>A p.Q173K Missense 5/10 - 1
12-6924068-C-T c.517C>T p.Q173* Nonsense 5/10 - 1
12-6924070-G-C c.519G>C p.Q173H Missense 5/10 - 2
12-6924070-G-T c.519G>T p.Q173H Missense 5/10 - 2
12-6924071-CTG-TTT c.520_522delinsTTT p.L174F Missense 5/10 - 1
12-6924071-CT-TG c.520_521delinsTG p.L174W Missense 5/10 - 1
12-6924072-T-C c.521T>C p.L174P Missense 5/10 - 1
12-6924072-T-G c.521T>G p.L174R Missense 5/10 - 1
12-6924074-G-A c.523G>A p.E175K Missense 5/10 - 1
12-6924074-GA-AC c.523_524delinsAC p.E175T Missense 5/10 - 1
12-6924076-G-A c.525G>A p.E175= Synonymous 5/10 - 1
12-6924077-C-A c.526C>A p.L176I Missense 5/10 - 1
12-6924077-C-T c.526C>T p.L176F Missense 5/10 - 4
12-6924077-CT-GC c.526_527delinsGC p.L176A Missense 5/10 - 2
12-6924078-T-C c.527T>C p.L176P Missense 5/10 - 2
12-6924081-A-G c.530A>G p.Q177R Missense 5/10 - 1
12-6924083-G-C c.532G>C p.D178H Missense 5/10 - 1
12-6924086-AG-GA c.535_536delinsGA p.S179D Missense 5/10 - 1
12-6924086-A-T c.535A>T p.S179C Missense 5/10 - 1
12-6924087-G-A c.536G>A p.S179N Missense 5/10 - 1
12-6924086-A-C c.535A>C p.S179R Missense 5/10 - 1
12-6924088-T-A c.537T>A p.S179R Missense 5/10 - 1
12-6924088-T-G c.537T>G p.S179R Missense 5/10 - 1
12-6924090-G-C c.539G>C p.G180A Missense 5/10 - 1
12-6924093-C-T c.542C>T p.T181I Missense 5/10 - 3
12-6924098-ACA-GAC c.547_549delinsGAC p.T183D Missense 5/10 - 1
12-6924098-AC-GG c.547_548delinsGG p.T183G Missense 5/10 - 1
12-6924098-A-G c.547A>G p.T183A Missense 5/10 - 2
12-6924099-C-T c.548C>T p.T183I Missense 5/10 - 3
12-6924101-T-A c.550T>A p.C184S Missense 5/10 - 2
12-6924102-G-C c.551G>C p.C184S Missense 5/10 - 2
12-6924107-GTC-AAG c.556_558delinsAAG p.V186K Missense 5/10 - 1
12-6924109-C-T c.558C>T p.V186= Synonymous 5/10 - 1
12-6924113-C-T c.562C>T p.Q188* Nonsense 5/10 - 1
12-6924114-A-G c.563A>G p.Q188R Missense 5/10 - 1
12-6924116-AA-GC c.565_566delinsGC p.N189A Missense 5/10 - 9
12-6924116-A-G c.565A>G p.N189D Missense 5/10 - 1
12-6924117-A-C c.566A>C p.N189T Missense 5/10 - 1
12-6924119-CAG-AAC c.568_570delinsAAC p.Q190N Missense 5/10 - 1
12-6924123-AG-GC c.572_573delinsGC p.K191S Missense 5/10 - 1
12-6924125-A-C c.574A>C p.K192Q Missense 5/10 - 1
12-6924126-AG-GC c.575_576delinsGC p.K192S Missense 5/10 - 2
12-6924131-G-A c.580G>A p.E194K Missense 5/10 - 2
12-6924132-A-C c.581A>C p.E194A Missense 5/10 - 3
12-6924132-A-G c.581A>G p.E194G Missense 5/10 - 2
12-6924132-A-T c.581A>T p.E194V Missense 5/10 - 1
12-6924133-G-A c.582G>A p.E194= Synonymous 5/10 - 1
12-6924134-T-A c.583T>A p.F195I Missense 5/10 - 2
12-6924134-TT-CG c.583_584delinsCG p.F195R Missense 5/10 - 1
12-6924134-TT-GC c.583_584delinsGC p.F195A Missense 5/10 - 10
12-6924136-C-A c.585C>A p.F195L Missense 5/10 - 1
12-6924137-AA-GC c.586_587delinsGC p.K196A Missense 5/10 - 1
12-6924137-A-C c.586A>C p.K196Q Missense 5/10 - 1
12-6924138-A-C c.587A>C p.K196T Missense 5/10 - 2
12-6924138-A-G c.587A>G p.K196R Missense 5/10 - 3
12-6924139-A-C c.588A>C p.K196N Missense 5/10 - 2
12-6924139-A-T c.588A>T p.K196N Missense 5/10 - 2
12-6924140-A-G c.589A>G p.I197V Missense 5/10 - 1
12-6924141-T-G c.590T>G p.I197R Missense 5/10 - 1
12-6924142-A-G c.591A>G p.I197M Missense 5/10 - 1
12-6924147-T-A c.596T>A p.I199N Missense 5/10 - 2
12-6924148-C-A c.597C>A p.I199= Synonymous 5/10 - 1
12-6924149-GT-AC c.598_599inv p.V200T Missense 5/10 - 1
12-6924149-GTG-ATC c.598_600delinsATC p.V200I Missense 5/10 - 2
12-6924149-GTG-TGT c.598_600delinsTGT p.V200C Missense 5/10 - 1
12-6924150-T-A c.599T>A p.V200E Missense 5/10 - 2
12-6924150-T-C c.599T>C p.V200A Missense 5/10 - 1
12-6924152-GTG-ATC c.601_603delinsATC p.V201I Missense 5/10 - 26
12-6924153-T-C c.602T>C p.V201A Missense 5/10 - 2
12-6924154-G-A c.603G>A p.V201= Synonymous 5/10 - 1
12-6924154-G-C c.603G>C p.V201= Synonymous 5/10 - 1
12-6924154-G-T c.603G>T p.V201= Synonymous 5/10 - 1
12-6924155-CT-AA c.604_605delinsAA p.L202K Missense 5/10 - 1
12-6924155-CT-GC c.604_605delinsGC p.L202A Missense 5/10 - 2
12-6924158-G-A c.607G>A p.A203T Missense 5/10 - 2
12-6924297-C-T c.607+139C>T - IntronicSNV - 5/9 2
12-6924718-C-A c.608-504C>A - IntronicSNV - 5/9 1
12-6924718-C-T c.608-504C>T - IntronicSNV - 5/9 1
12-6925228-A-G c.614A>G p.Q205R Missense 6/10 - 1
12-6925228-A-T c.614A>T p.Q205L Missense 6/10 - 1
12-6925230-A-G c.616A>G p.K206E Missense 6/10 - 1
12-6925233-G-A c.619G>A p.A207T Missense 6/10 - 1
12-6925234-C-G c.620C>G p.A207G Missense 6/10 - 1
12-6925237-C-T c.623C>T p.S208F Missense 6/10 - 1
12-6925239-AG-GC c.625_626delinsGC p.S209A Missense 6/10 - 8
12-6925242-A-G c.628A>G p.I210V Missense 6/10 - 1
12-6925243-T-C c.629T>C p.I210T Missense 6/10 - 1
12-6925248-TAT-GAG c.634_636delinsGAG p.Y212E Missense 6/10 - 1
12-6925249-A-G c.635A>G p.Y212C Missense 6/10 - 1
12-6925249-A-T c.635A>T p.Y212F Missense 6/10 - 1
12-6925251-AA-GC c.637_638delinsGC p.K213A Missense 6/10 - 1
12-6925251-A-G c.637A>G p.K213E Missense 6/10 - 2
12-6925253-G-A c.639G>A p.K213= Synonymous 6/10 - 1
12-6925255-A-C c.641A>C p.K214T Missense 6/10 - 1
12-6925260-G-A c.646G>A p.G216R Missense 6/10 - 1
12-6925267-A-T c.653A>T p.Q218L Missense 6/10 - 1
12-6925268-G-C c.654G>C p.Q218H Missense 6/10 - 1
12-6925268-G-T c.654G>T p.Q218H Missense 6/10 - 1
12-6925275-T-C c.661T>C p.F221L Missense 6/10 - 1
12-6925277-C-A c.663C>A p.F221L Missense 6/10 - 1
12-6925277-C-G c.663C>G p.F221L Missense 6/10 - 1
12-6925276-T-C c.662T>C p.F221S Missense 6/10 - 1
12-6925278-T-C c.664T>C p.S222P Missense 6/10 - 1
12-6925278-T-G c.664T>G p.S222A Missense 6/10 - 1
12-6925281-T-C c.667T>C p.F223L Missense 6/10 - 1
12-6925281-TT-GC c.667_668delinsGC p.F223A Missense 6/10 - 2
12-6925283-C-A c.669C>A p.F223L Missense 6/10 - 1
12-6925283-C-G c.669C>G p.F223L Missense 6/10 - 1
12-6925282-T-A c.668T>A p.F223Y Missense 6/10 - 3
12-6925282-TC-GG c.668_669delinsGG p.F223W Missense 6/10 - 1
12-6925284-C-G c.670C>G p.P224A Missense 6/10 - 2
12-6925284-C-T c.670C>T p.P224S Missense 6/10 - 1
12-6925287-CT-GC c.673_674delinsGC p.L225A Missense 6/10 - 1
12-6925291-C-T c.677C>T p.A226V Missense 6/10 - 17
12-6925293-T-C c.679T>C p.F227L Missense 6/10 - 82
12-6925293-T-G c.679T>G p.F227V Missense 6/10 - 3
12-6925293-TT-GC c.679_680delinsGC p.F227A Missense 6/10 - 2
12-6925295-T-A c.681T>A p.F227L Missense 6/10 - 82
12-6925295-T-G c.681T>G p.F227L Missense 6/10 - 82
12-6925294-T-C c.680T>C p.F227S Missense 6/10 - 1
12-6925294-T-G c.680T>G p.F227C Missense 6/10 - 28
12-6925294-TT-AA c.680_681inv p.F227* Nonsense 6/10 - 1
12-6925295-T-C c.681T>C p.F227= Synonymous 6/10 - 3
12-6925296-A-C c.682A>C p.T228P Missense 6/10 - 1
12-6925296-A-G c.682A>G p.T228A Missense 6/10 - 4
12-6925300-T-G c.686T>G p.V229G Missense 6/10 - 1
12-6925303-A-C c.689A>C p.E230A Missense 6/10 - 1
12-6925305-AAG-TGT c.691_693delinsTGT p.K231C Missense 6/10 - 1
12-6925305-A-G c.691A>G p.K231E Missense 6/10 - 1
12-6925309-CTGACG-C c.695_699del p.L232Rfs*22 Frameshift 6/10 - 1
12-6925311-A-C c.697A>C p.T233P Missense 6/10 - 1
12-6925312-C-T c.698C>T p.T233M Missense 6/10 - 1
12-6925315-G-A c.701G>A p.G234D Missense 6/10 - 1
12-6925317-AG-TT c.703_704delinsTT p.S235F Missense 6/10 - 11
12-6925320-G-C c.706G>C p.G236R Missense 6/10 - 8
12-6925320-GGC-TGG c.706_708delinsTGG p.G236W Missense 6/10 - 2
12-6925319-TGGC-T c.707_709del p.G236del InFrameDeletion 6/10 - 3
12-6925321-G-C c.707G>C p.G236A Missense 6/10 - 17
12-6925322-C-A c.708C>A p.G236= Synonymous 6/10 - 1
12-6925322-GC-G c.708del p.E237Sfs*20 Frameshift 6/10 - 1
12-6925324-A-G c.710A>G p.E237G Missense 6/10 - 1
12-6925326-CT-GC c.712_713delinsGC p.L238A Missense 6/10 - 1
12-6925329-TG-GC c.715_716delinsGC p.W239A Missense 6/10 - 1
12-6925331-G-A c.717G>A p.W239* Nonsense 6/10 - 1
12-6925332-T-A c.718T>A p.W240R Missense 6/10 - 1
12-6925332-T-C c.718T>C p.W240R Missense 6/10 - 1
12-6925334-G-A c.720G>A p.W240* Nonsense 6/10 - 1
12-6925333-GGCA-G c.721_723del p.Q241del InFrameDeletion 6/10 - 1
12-6925336-A-G c.722A>G p.Q241R Missense 6/10 - 1
12-6925339-C-T c.725C>T p.A242V Missense 6/10 - 1
12-6925340-G-GAACCCATGC c.726_727insAACCCATGC p.A242_E243insNPC InFrameInsertion 6/10 - 1
12-6925342-A-AGGTATCTT c.729_730insGTATCTTG p.R244Vfs*3 Frameshift 6/10 - 1
12-6925342-AGAG-A c.730_732del p.R244del InFrameDeletion 6/10 - 1
12-6925345-G-GTTGTCCCAC c.731_732insTTGTCCCAC p.R244delinsSCPT MultiAAMissense 6/10 - 2
12-6925347-G-A c.733G>A p.A245T Missense 6/10 - 2
12-6925347-GCT-AAG c.733_735delinsAAG p.A245K Missense 6/10 - 1
12-6925348-C-T c.734C>T p.A245V Missense 6/10 - 10
12-6925350-TC-GG c.736_737delinsGG p.S246G Missense 6/10 - 1
12-6925350-T-G c.736T>G p.S246A Missense 6/10 - 1
12-6925351-C-A c.737C>A p.S246Y Missense 6/10 - 1
12-6925351-C-T c.737C>T p.S246F Missense 6/10 - 1
12-6925353-TC-CG c.739_740delinsCG p.S247R Missense 6/10 - 2
12-6925349-TTCC-T c.742_744del p.S248del InFrameDeletion 6/10 - 2
12-6925356-TC-AA c.742_743delinsAA p.S248N Missense 6/10 - 1
12-6925357-C-T c.743C>T p.S248F Missense 6/10 - 1
12-6925359-A-C c.745A>C p.K249Q Missense 6/10 - 1
12-6925360-A-G c.746A>G p.K249R Missense 6/10 - 1
12-6925362-TC-AT c.748_749delinsAT p.S250I Missense 6/10 - 1
12-6925362-TC-GA c.748_749inv p.S250D Missense 6/10 - 2
12-6925362-T-G c.748T>G p.S250A Missense 6/10 - 1
12-6925365-TG-T c.753del p.W251* Frameshift 6/10 - 1
12-6925371-ACC-TAA c.757_759delinsTAA p.T253* Nonsense 6/10 - 1
12-6925371-A-G c.757A>G p.T253A Missense 6/10 - 1
12-6925378-A-C c.764A>C p.D255A Missense 6/10 - 1
12-6925378-A-G c.764A>G p.D255G Missense 6/10 - 1
12-6925381-T-C c.767T>C p.L256P Missense 6/10 - 1
12-6925384-A-C c.770A>C p.K257T Missense 6/10 - 1
12-6925386-AA-CC c.772_773delinsCC p.N258P Missense 6/10 - 1
12-6925391-G-C c.777G>C p.K259N Missense 6/10 - 1
12-6925391-G-T c.777G>T p.K259N Missense 6/10 - 1
12-6925392-G-C c.778G>C p.E260Q Missense 6/10 - 1
12-6925393-A-C c.779A>C p.E260A Missense 6/10 - 2
12-6925393-A-T c.779A>T p.E260V Missense 6/10 - 1
12-6925394-A-C c.780A>C p.E260D Missense 6/10 - 7
12-6925394-A-T c.780A>T p.E260D Missense 6/10 - 7
12-6925398-TC-CG c.784_785delinsCG p.S262R Missense 6/10 - 2
12-6925398-TC-GA c.784_785inv p.S262D Missense 6/10 - 1
12-6925398-TC-GG c.784_785delinsGG p.S262G Missense 6/10 - 1
12-6925398-T-G c.784T>G p.S262A Missense 6/10 - 1
12-6925404-AA-GC c.790_791delinsGC p.K264A Missense 6/10 - 3
12-6925404-A-G c.790A>G p.K264E Missense 6/10 - 2
12-6925405-A-G c.791A>G p.K264R Missense 6/10 - 2
12-6925407-CG-AA c.793_794delinsAA p.R265K Missense 6/10 - 1
12-6925407-CG-GC c.793_794delinsGC p.R265A Missense 6/10 - 1
12-6925407-C-T c.793C>T p.R265W Missense 6/10 - 11
12-6925410-G-A c.796G>A p.V266I Missense 6/10 - 1
12-6925410-G-T c.796G>T p.V266F Missense 6/10 - 1
12-6925416-C-T c.802C>T p.Q268* Nonsense 6/10 - 2
12-6925417-A-G c.803A>G p.Q268R Missense 6/10 - 1
12-6925423-C-A c.809C>A p.P270H Missense 6/10 - 1
12-6925429-T-C c.815T>C p.L272P Missense 6/10 - 5
12-6925432-AGATG-A c.820_823del p.M274Afs*38 Frameshift 6/10 - 1
12-6925437-G-C c.823G>C p.G275R Missense 6/10 - 1
12-6925440-A-C c.826A>C p.K276Q Missense 6/10 - 1
12-6925440-A-G c.826A>G p.K276E Missense 6/10 - 1
12-6925440-A-T c.826A>T p.K276* Nonsense 6/10 - 6
12-6925443-A-T c.829A>T p.K277* Nonsense 6/10 - 1
12-6925444-A-G c.830A>G p.K277R Missense 6/10 - 6
12-6925445-G-T c.831G>T p.K277N Missense 6/10 - 1
12-6925446-C-T c.832C>T p.L278F Missense 6/10 - 1
12-6925446-CT-AG c.832_833inv p.L278S Missense 6/10 - 1
12-6925448-C-T c.834C>T p.L278= Synonymous 6/10 - 1
12-6925452-C-G c.838C>G p.L280V Missense 6/10 - 1
12-6925452-C-T c.838C>T p.L280F Missense 6/10 - 1
12-6925453-T-C c.839T>C p.L280P Missense 6/10 - 1
12-6925455-CA-GC c.841_842delinsGC p.H281A Missense 6/10 - 1
12-6925458-CT-TG c.844_845delinsTG p.L282C Missense 6/10 - 2
12-6925460-C-A c.846C>A p.L282= Synonymous 6/10 - 1
12-6925460-C-G c.846C>G p.L282= Synonymous 6/10 - 1
12-6925460-C-T c.846C>T p.L282= Synonymous 6/10 - 1
12-6925461-A-C c.847A>C p.T283P Missense 6/10 - 1
12-6925461-A-G c.847A>G p.T283A Missense 6/10 - 6
12-6925462-C-A c.848C>A p.T283N Missense 6/10 - 4
12-6925462-C-T c.848C>T p.T283I Missense 6/10 - 1
12-6925464-C-T c.850C>T p.L284= Synonymous 6/10 - 1
12-6925470-C-T c.856C>T p.Q286* Nonsense 6/10 - 1
12-6925473-G-A c.859G>A p.A287T Missense 6/10 - 1
12-6925473-G-T c.859G>T p.A287S Missense 6/10 - 1
12-6925474-C-A c.860C>A p.A287D Missense 6/10 - 1
12-6925474-C-T c.860C>T p.A287V Missense 6/10 - 1
12-6925476-TT-GC c.862_863delinsGC p.L288A Missense 6/10 - 1
12-6925477-T-A c.863T>A p.L288* Nonsense 6/10 - 1
12-6925482-C-A c.868C>A p.Q290K Missense 6/10 - 2
12-6925482-CA-TC c.868_869delinsTC p.Q290S Missense 6/10 - 1
12-6925484-G-C c.870G>C p.Q290H Missense 6/10 - 1
12-6925484-G-T c.870G>T p.Q290H Missense 6/10 - 1
12-6925488-G-T c.874G>T p.A292S Missense 6/10 - 2
12-6925491-G-T c.877G>T p.G293C Missense 6/10 - 1
12-6925492-G-A c.878G>A p.G293D Missense 6/10 - 1
12-6925495-C-T c.881C>T p.S294F Missense 6/10 - 1
12-6925500-AA-CC c.886_887delinsCC p.N296P Missense 6/10 - 1
12-6925501-A-C c.887A>C p.N296T Missense 6/10 - 1
12-6925502-C-A c.888C>A p.N296K Missense 6/10 - 1
12-6925502-C-G c.888C>G p.N296K Missense 6/10 - 1
12-6925503-C-G c.889C>G p.L297V Missense 6/10 - 1
12-6925503-CT-GC c.889_890delinsGC p.L297A Missense 6/10 - 1
12-6925507-C-T c.893C>T p.T298I Missense 6/10 - 1
12-6925513-C-A c.899C>A p.A300D Missense 6/10 - 1
12-6925513-CC-AG c.899_900delinsAG p.A300E Missense 6/10 - 4
12-6925513-GCCCT-G c.899_902del p.A300Vfs*12 Frameshift 6/10 - 1
12-6925514-C-A c.900C>A p.A300= Synonymous 6/10 - 1
12-6925515-CTT-GAG c.901_903delinsGAG p.L301E Missense 6/10 - 1
12-6925520-A-C c.906A>C p.E302D Missense 6/10 - 1
12-6925520-A-T c.906A>T p.E302D Missense 6/10 - 1
12-6925525-A-G c.911A>G p.K304R Missense 6/10 - 1
12-6925527-A-C c.913A>C p.T305P Missense 6/10 - 1
12-6925527-A-G c.913A>G p.T305A Missense 6/10 - 2
12-6925528-C-T c.914C>T p.T305I Missense 6/10 - 1
12-6925530-GGA-AGC c.916_918delinsAGC p.G306S Missense 6/10 - 2
12-6925530-GG-CC c.916_917inv p.G306P Missense 6/10 - 2
12-6925531-G-A c.917G>A p.G306E Missense 6/10 - 1
12-6925533-AA-GC c.919_920delinsGC p.K307A Missense 6/10 - 1
12-6925533-A-G c.919A>G p.K307E Missense 6/10 - 1
12-6925534-A-G c.920A>G p.K307R Missense 6/10 - 1
12-6925536-T-C c.922T>C p.L308= Synonymous 6/10 - 1
12-6925536-T-G c.922T>G p.L308V Missense 6/10 - 2
12-6925542-C-A c.928C>A p.Q310K Missense 6/10 - 1
12-6925542-CA-GC c.928_929delinsGC p.Q310A Missense 6/10 - 1
12-6925544-G-C c.930G>C p.Q310H Missense 6/10 - 1
12-6925544-G-T c.930G>T p.Q310H Missense 6/10 - 1
12-6925551-A-G c.937A>G p.N313D Missense 6/10 - 1
12-6925554-CT-GG c.940_941delinsGG p.L314G Missense 6/10 - 1
12-6925555-T-A c.941T>A p.L314Q Missense 6/10 - 1
12-6925558-T-C c.944T>C p.V315A Missense 6/10 - 1
12-6925561-T-C c.947T>C p.V316A Missense 6/10 - 2
12-6925564-T-A c.950T>A p.M317K Missense 6/10 - 1
12-6925564-T-C c.950T>C p.M317T Missense 6/10 - 1
12-6925565-G-A c.951G>A p.M317I Missense 6/10 - 1
12-6925565-G-C c.951G>C p.M317I Missense 6/10 - 1
12-6925565-G-T c.951G>T p.M317I Missense 6/10 - 1
12-6925566-A-G c.952A>G p.R318G Missense 6/10 - 1
12-6925566-AGA-TAT c.952_954delinsTAT p.R318Y Missense 6/10 - 1
12-6925566-AG-CA c.952_953delinsCA p.R318Q Missense 6/10 - 1
12-6925569-G-A c.955G>A p.A319T Missense 6/10 - 1
12-6925569-G-T c.955G>T p.A319S Missense 6/10 - 1
12-6926298-AC-CA c.958_959delinsCA p.T320H Missense 7/10 - 1
12-6926298-AC-CT c.958_959delinsCT p.T320L Missense 7/10 - 4
12-6926298-AC-TT c.958_959delinsTT p.T320F Missense 7/10 - 1
12-6926298-ACT-TGG c.958_960delinsTGG p.T320W Missense 7/10 - 1
12-6926299-C-T c.959C>T p.T320I Missense 7/10 - 1
12-6926299-CT-TG c.959_960delinsTG p.T320M Missense 7/10 - 1
12-6926306-C-A c.966C>A p.L322= Synonymous 7/10 - 1
12-6926306-C-G c.966C>G p.L322= Synonymous 7/10 - 1
12-6926306-C-T c.966C>T p.L322= Synonymous 7/10 - 1
12-6926312-A-C c.972A>C p.K324N Missense 7/10 - 1
12-6926312-A-T c.972A>T p.K324N Missense 7/10 - 1
12-6926313-AA-GC c.973_974delinsGC p.N325A Missense 7/10 - 1
12-6926313-AA-GT c.973_974delinsGT p.N325V Missense 7/10 - 1
12-6926313-A-G c.973A>G p.N325D Missense 7/10 - 4
12-6926314-A-G c.974A>G p.N325S Missense 7/10 - 1
12-6926315-T-A c.975T>A p.N325K Missense 7/10 - 1
12-6926315-T-G c.975T>G p.N325K Missense 7/10 - 2
12-6926318-G-T c.978G>T p.L326F Missense 7/10 - 1
12-6926320-C-T c.980C>T p.T327I Missense 7/10 - 2
12-6926321-C-G c.981C>G p.T327= Synonymous 7/10 - 1
12-6926324-T-C c.984T>C p.C328= Synonymous 7/10 - 1
12-6926325-GA-CC c.985_986delinsCC p.E329P Missense 7/10 - 1
12-6926326-A-G c.986A>G p.E329G Missense 7/10 - 1
12-6926327-G-C c.987G>C p.E329D Missense 7/10 - 1
12-6926327-G-T c.987G>T p.E329D Missense 7/10 - 1
12-6926328-G-C c.988G>C p.V330L Missense 7/10 - 1
12-6926328-G-T c.988G>T p.V330L Missense 7/10 - 1
12-6926329-T-A c.989T>A p.V330E Missense 7/10 - 1
12-6926332-G-T c.992G>T p.W331L Missense 7/10 - 1
12-6926334-G-A c.994G>A p.G332R Missense 7/10 - 1
12-6926334-G-C c.994G>C p.G332R Missense 7/10 - 1
12-6926335-G-A c.995G>A p.G332E Missense 7/10 - 1
12-6926337-C-T c.997C>T p.P333S Missense 7/10 - 1
12-6926338-C-G c.998C>G p.P333R Missense 7/10 - 2
12-6926343-T-A c.1003T>A p.S335T Missense 7/10 - 1
12-6926343-TC-AA c.1003_1004delinsAA p.S335N Missense 7/10 - 1
12-6926343-TCC-CAA c.1003_1005delinsCAA p.S335Q Missense 7/10 - 1
12-6926346-C-T c.1006C>T p.P336S Missense 7/10 - 1
12-6926350-A-G c.1010A>G p.K337R Missense 7/10 - 1
12-6926351-G-A c.1011G>A p.K337= Synonymous 7/10 - 1
12-6926352-CT-TC c.1012_1013delinsTC p.L338S Missense 7/10 - 1
12-6926357-G-T c.1017G>T p.M339I Missense 7/10 - 1
12-6926358-CTG-TTT c.1018_1020delinsTTT p.L340F Missense 7/10 - 1
12-6926367-AA-GC c.1027_1028delinsGC p.K343A Missense 7/10 - 2
12-6926367-A-G c.1027A>G p.K343E Missense 7/10 - 2
12-6926368-A-G c.1028A>G p.K343R Missense 7/10 - 1
12-6926369-A-G c.1029A>G p.K343= Synonymous 7/10 - 1
12-6926371-T-C c.1031T>C p.L344P Missense 7/10 - 1
12-6926373-G-A c.1033G>A p.E345K Missense 7/10 - 1
12-6926373-GA-AG c.1033_1034delinsAG p.E345R Missense 7/10 - 6
12-6926374-A-C c.1034A>C p.E345A Missense 7/10 - 1
12-6926376-A-T c.1036A>T p.N346Y Missense 7/10 - 1
12-6926379-A-T c.1039A>T p.K347* Nonsense 7/10 - 1
12-6926386-C-G c.1046C>G p.A349G Missense 7/10 - 1
12-6926388-AA-GC c.1048_1049delinsGC p.K350A Missense 7/10 - 3
12-6926388-A-G c.1048A>G p.K350E Missense 7/10 - 3
12-6926389-A-G c.1049A>G p.K350R Missense 7/10 - 1
12-6926395-C-G c.1055C>G p.S352W Missense 7/10 - 1
12-6926397-AA-CT c.1057_1058delinsCT p.K353L Missense 7/10 - 2
12-6926398-A-G c.1058A>G p.K353R Missense 7/10 - 1
12-6926403-G-A c.1063G>A p.E355K Missense 7/10 - 1
12-6926408-G-C c.1068G>C p.K356N Missense 7/10 - 1
12-6926408-G-T c.1068G>T p.K356N Missense 7/10 - 1
12-6926411-G-A c.1071G>A p.A357= Synonymous 7/10 - 1
12-6926411-G-C c.1071G>C p.A357= Synonymous 7/10 - 1
12-6926411-G-T c.1071G>T p.A357= Synonymous 7/10 - 1
12-6926415-TG-GC c.1075_1076delinsGC p.W359A Missense 7/10 - 1
12-6926419-T-C c.1079T>C p.V360A Missense 7/10 - 1
12-6926421-CT-TC c.1081_1082delinsTC p.L361S Missense 7/10 - 1
12-6926424-AAC-CAA c.1084_1086delinsCAA p.N362Q Missense 7/10 - 1
12-6926424-AAC-GAG c.1084_1086delinsGAG p.N362E Missense 7/10 - 1
12-6926424-AA-GC c.1084_1085delinsGC p.N362A Missense 7/10 - 1
12-6926424-A-G c.1084A>G p.N362D Missense 7/10 - 1
12-6926425-A-C c.1085A>C p.N362T Missense 7/10 - 2
12-6926425-A-G c.1085A>G p.N362S Missense 7/10 - 1
12-6926426-C-A c.1086C>A p.N362K Missense 7/10 - 3
12-6926426-C-G c.1086C>G p.N362K Missense 7/10 - 3
12-6926427-CC-AA c.1087_1088delinsAA p.P363N Missense 7/10 - 23
12-6926427-C-G c.1087C>G p.P363A Missense 7/10 - 1
12-6926433-G-A c.1093G>A p.A365T Missense 7/10 - 1
12-6926433-G-T c.1093G>T p.A365S Missense 7/10 - 1
12-6926436-G-A c.1096G>A p.G366R Missense 7/10 - 1
12-6926436-G-C c.1096G>C p.G366R Missense 7/10 - 1
12-6926436-GGG-AGC c.1096_1098delinsAGC p.G366S Missense 7/10 - 1
12-6926437-G-A c.1097G>A p.G366E Missense 7/10 - 4
12-6926437-G-C c.1097G>C p.G366A Missense 7/10 - 3
12-6926437-G-T c.1097G>T p.G366V Missense 7/10 - 1
12-6926441-G-T c.1101G>T p.M367I Missense 7/10 - 1
12-6926444-G-T c.1104G>T p.W368C Missense 7/10 - 1
12-6926447-G-C c.1107G>C p.Q369H Missense 7/10 - 1
12-6926447-G-T c.1107G>T p.Q369H Missense 7/10 - 1
12-6926448-TG-GC c.1108_1109delinsGC p.C370A Missense 7/10 - 1
12-6926451-CTG-TGT c.1111_1113delinsTGT p.L371C Missense 7/10 - 1
12-6926455-T-C c.1115T>C p.L372P Missense 7/10 - 1
12-6926457-AG-CC c.1117_1118delinsCC p.S373P Missense 7/10 - 37
12-6926457-AG-GC c.1117_1118delinsGC p.S373A Missense 7/10 - 2
12-6926457-AGT-CAA c.1117_1119delinsCAA p.S373Q Missense 7/10 - 1
12-6926458-G-C c.1118G>C p.S373T Missense 7/10 - 1
12-6926461-A-C c.1121A>C p.D374A Missense 7/10 - 1
12-6926463-T-A c.1123T>A p.S375T Missense 7/10 - 9
12-6926463-TC-AG c.1123_1124delinsAG p.S375R Missense 7/10 - 2
12-6926463-TC-AT c.1123_1124delinsAT p.S375M Missense 7/10 - 7
12-6926463-TCG-AAC c.1123_1125delinsAAC p.S375N Missense 7/10 - 8
12-6926463-TCG-ATC c.1123_1125delinsATC p.S375I Missense 7/10 - 4
12-6926463-TCG-CAT c.1123_1125delinsCAT p.S375H Missense 7/10 - 14
12-6926463-T-G c.1123T>G p.S375A Missense 7/10 - 10
12-6926464-C-A c.1124C>A p.S375* Nonsense 7/10 - 1
12-6926464-C-G c.1124C>G p.S375W Missense 7/10 - 67
12-6926464-CG-AT c.1124_1125delinsAT p.S375Y Missense 7/10 - 6
12-6926464-CG-TT c.1124_1125delinsTT p.S375F Missense 7/10 - 37
12-6926464-C-T c.1124C>T p.S375L Missense 7/10 - 1
12-6926465-G-A c.1125G>A p.S375= Synonymous 7/10 - 2
12-6926465-G-C c.1125G>C p.S375= Synonymous 7/10 - 2
12-6926465-G-T c.1125G>T p.S375= Synonymous 7/10 - 2
12-6926465-GGGACA-G c.1128_1132del p.Q377Pfs*63 Frameshift 7/10 - 1
12-6926469-CA-GC c.1129_1130delinsGC p.Q377A Missense 7/10 - 1
12-6926469-C-G c.1129C>G p.Q377E Missense 7/10 - 5
12-6926472-G-A c.1132G>A p.V378I Missense 7/10 - 3
12-6926473-T-C c.1133T>C p.V378A Missense 7/10 - 1
12-6926475-C-G c.1135C>G p.L379V Missense 7/10 - 1
12-6926478-C-T c.1138C>T p.L380= Synonymous 7/10 - 1
12-6926481-GAA-ATG c.1141_1143delinsATG p.E381M Missense 7/10 - 2
12-6926482-A-C c.1142A>C p.E381A Missense 7/10 - 1
12-6926482-A-G c.1142A>G p.E381G Missense 7/10 - 1
12-6926484-TC-CG c.1144_1145delinsCG p.S382R Missense 7/10 - 1
12-6926484-T-G c.1144T>G p.S382A Missense 7/10 - 1
12-6926487-AA-GC c.1147_1148delinsGC p.N383A Missense 7/10 - 1
12-6926487-AA-TG c.1147_1148delinsTG p.N383C Missense 7/10 - 1
12-6926487-A-G c.1147A>G p.N383D Missense 7/10 - 1
12-6926490-A-G c.1150A>G p.I384V Missense 7/10 - 1
12-6926492-C-CT c.1152_1153insT p.K385* Nonsense 7/10 - 1
12-6926493-AA-GG c.1153_1154delinsGG p.K385G Missense 7/10 - 1
12-6926496-G-T c.1156G>T p.V386F Missense 7/10 - 1
12-6926494-AGGGTAAGGACCCAGGTTCCAAGGCCTCTGCCTCCTGGGCTGCGGGACCTTCCTGTGGTT-A c.1156+1_1156+59del - SpliceDonorDeletion - 7/9 1
12-6927581-TTGCAGTTCTGCCCACATGGTCCACCCCGG-T c.1157_1185del p.V386Afs*46 SpliceAcceptorDeletion 8/10 - 1
12-6927587-GTTCTGCCCACATGGTCCACCCCGGTGCAGCCAATGGCCCTGATTGTGCTGGGGGGCGTC-G c.1157_1215del p.V386Gfs*36 Unclassified 8/10 - 1
12-6927589-C-A c.1159C>A p.L387M Missense 8/10 - 2
12-6927589-CT-AC c.1159_1160delinsAC p.L387T Missense 8/10 - 1
12-6927590-T-C c.1160T>C p.L387P Missense 8/10 - 1
12-6927591-G-T c.1161G>T p.L387= Synonymous 8/10 - 1
12-6927592-CC-GA c.1162_1163delinsGA p.P388D Missense 8/10 - 12
12-6927592-CC-TG c.1162_1163delinsTG p.P388C Missense 8/10 - 1
12-6927593-C-G c.1163C>G p.P388R Missense 8/10 - 1
12-6927596-C-T c.1166C>T p.T389I Missense 8/10 - 1
12-6927598-TG-GC c.1168_1169delinsGC p.W390A Missense 8/10 - 2
12-6927607-CC-TA c.1177_1178delinsTA p.P393* Nonsense 8/10 - 1
12-6927611-TG-AC c.1181_1182delinsAC p.V394D Missense 8/10 - 5
12-6927614-A-G c.1184A>G p.Q395R Missense 8/10 - 1
12-6927617-C-T c.1187C>T p.P396L Missense 8/10 - 4
12-6927622-G-T c.1192G>T p.A398S Missense 8/10 - 1
12-6927625-CTG-TTT c.1195_1197delinsTTT p.L399F Missense 8/10 - 1
12-6927631-GT-AA c.1201_1202delinsAA p.V401K Missense 8/10 - 1
12-6927632-T-C c.1202T>C p.V401A Missense 8/10 - 1
12-6927637-GG-CT c.1207_1208delinsCT p.G403L Missense 8/10 - 1
12-6927638-G-C c.1208G>C p.G403A Missense 8/10 - 3
12-6927638-G-T c.1208G>T p.G403V Missense 8/10 - 1
12-6927640-G-C c.1210G>C p.G404R Missense 8/10 - 1
12-6927640-GG-CT c.1210_1211delinsCT p.G404L Missense 8/10 - 1
12-6927641-G-A c.1211G>A p.G404D Missense 8/10 - 1
12-6927647-C-G c.1217C>G p.A406G Missense 8/10 - 1
12-6927649-GG-CT c.1219_1220delinsCT p.G407L Missense 8/10 - 1
12-6927652-CT-GA c.1222_1223delinsGA p.L408D Missense 8/10 - 1
12-6927653-T-G c.1223T>G p.L408R Missense 8/10 - 1
12-6927661-T-C c.1231T>C p.F411L Missense 8/10 - 1
12-6927663-C-A c.1233C>A p.F411L Missense 8/10 - 1
12-6927663-C-G c.1233C>G p.F411L Missense 8/10 - 1
12-6927666-T-C c.1236T>C p.I412= Synonymous 8/10 - 1
12-6927667-GG-CT c.1237_1238delinsCT p.G413L Missense 8/10 - 1
12-6927667-G-T c.1237G>T p.G413W Missense 8/10 - 1
12-6927670-C-G c.1240C>G p.L414V Missense 8/10 - 1
12-6927670-CT-GC c.1240_1241delinsGC p.L414A Missense 8/10 - 1
12-6927673-GG-CT c.1243_1244delinsCT p.G415L Missense 8/10 - 1
12-6927677-TC-AG c.1247_1248delinsAG p.I416K Missense 8/10 - 1
12-6927682-T-C c.1252T>C p.F418L Missense 8/10 - 1
12-6927684-C-A c.1254C>A p.F418L Missense 8/10 - 1
12-6927684-C-G c.1254C>G p.F418L Missense 8/10 - 1
12-6927685-T-A c.1255T>A p.C419S Missense 8/10 - 1
12-6927686-G-C c.1256G>C p.C419S Missense 8/10 - 1
12-6927688-G-A c.1258G>A p.V420I Missense 8/10 - 2
12-6927695-GC-G c.1267del p.R423Gfs*62 Frameshift 8/10 - 1
12-6927698-G-A c.1268G>A p.R423Q Missense 8/10 - 1
12-6927703-C-G c.1273C>G p.R425G Missense 8/10 - 1
12-6927706-AGG-CAT c.1276_1278delinsCAT p.R426H Missense 8/10 - 1
12-6927707-G-C c.1277G>C p.R426T Missense 8/10 - 1
12-6928013-CG-GC c.1279_1280delinsGC p.R427A Missense 9/10 - 2
12-6928016-C-A c.1282C>A p.Q428K Missense 9/10 - 1
12-6928016-CA-GC c.1282_1283delinsGC p.Q428A Missense 9/10 - 3
12-6928016-C-T c.1282C>T p.Q428* Nonsense 9/10 - 2
12-6928017-A-G c.1283A>G p.Q428R Missense 9/10 - 1
12-6928019-G-C c.1285G>C p.A429P Missense 9/10 - 1
12-6928019-GC-AG c.1285_1286delinsAG p.A429R Missense 9/10 - 1
12-6928022-GAG-TTT c.1288_1290delinsTTT p.E430F Missense 9/10 - 1
12-6928022-GA-TC c.1288_1289inv p.E430S Missense 9/10 - 1
12-6928023-A-G c.1289A>G p.E430G Missense 9/10 - 4
12-6928026-G-A c.1292G>A p.R431Q Missense 9/10 - 1
12-6928028-AT-GC c.1294_1295delinsGC p.M432A Missense 9/10 - 1
12-6928031-TC-CA c.1297_1298delinsCA p.S433H Missense 9/10 - 1
12-6928031-T-G c.1297T>G p.S433A Missense 9/10 - 1
12-6928032-C-T c.1298C>T p.S433F Missense 9/10 - 1
12-6928040-AA-GG c.1306_1307delinsGG p.K436G Missense 9/10 - 1
12-6928040-A-G c.1306A>G p.K436E Missense 9/10 - 3
12-6928041-A-G c.1307A>G p.K436R Missense 9/10 - 7
12-6928043-AGA-GAC c.1309_1311delinsGAC p.R437D Missense 9/10 - 1
12-6928046-C-A c.1312C>A p.L438I Missense 9/10 - 1
12-6928047-T-C c.1313T>C p.L438P Missense 9/10 - 2
12-6928052-AG-TA c.1318_1319delinsTA p.S440Y Missense 9/10 - 2
12-6928052-AGT-GAG c.1318_1320delinsGAG p.S440E Missense 9/10 - 1
12-6928053-G-A c.1319G>A p.S440N Missense 9/10 - 1
12-6928053-GT-AG c.1319_1320delinsAG p.S440K Missense 9/10 - 1
12-6928052-A-C c.1318A>C p.S440R Missense 9/10 - 5
12-6928054-T-A c.1320T>A p.S440R Missense 9/10 - 5
12-6928054-T-G c.1320T>G p.S440R Missense 9/10 - 5
12-6928059-A-G c.1325A>G p.K442R Missense 9/10 - 1
12-6928063-G-C c.1329G>C p.K443N Missense 9/10 - 1
12-6928063-G-T c.1329G>T p.K443N Missense 9/10 - 1
12-6928064-A-G c.1330A>G p.T444A Missense 9/10 - 1
12-6928065-CC-AG c.1331_1332delinsAG p.T444K Missense 9/10 - 1
12-6928067-T-A c.1333T>A p.C445S Missense 9/10 - 1
12-6928067-T-G c.1333T>G p.C445G Missense 9/10 - 1
12-6928067-TG-GC c.1333_1334delinsGC p.C445A Missense 9/10 - 2
12-6928068-G-C c.1334G>C p.C445S Missense 9/10 - 1
12-6928073-T-C c.1339T>C p.C447R Missense 9/10 - 1
12-6928079-C-A c.1345C>A p.H449N Missense 9/10 - 1
12-6928465-C-T c.1347C>T p.H449= Synonymous 10/10 - 2
12-6928466-CG-GC c.1348_1349delinsGC p.R450A Missense 10/10 - 1
12-6928466-CGG-TGT c.1348_1350delinsTGT p.R450C Missense 10/10 - 1
12-6928466-C-T c.1348C>T p.R450W Missense 10/10 - 2
12-6928476-A-G c.1358A>G p.K453R Missense 10/10 - 1
12-6928478-AC-TA c.1360_1361delinsTA p.T454* Nonsense 10/10 - 1
12-6928481-T-A c.1363T>A p.C455S Missense 10/10 - 1
12-6928481-TG-CA c.1363_1364inv p.C455H Missense 10/10 - 1
12-6928482-G-C c.1364G>C p.C455S Missense 10/10 - 1
12-6928483-GT-G c.1365del p.C455* Frameshift 10/10 - 1
12-6928484-AG-TA c.1366_1367delinsTA p.S456Y Missense 10/10 - 1
12-6928486-C-A c.1368C>A p.S456R Missense 10/10 - 1
12-6928486-C-T c.1368C>T p.S456= Synonymous 10/10 - 1
12-6928487-C-G c.1369C>G p.P457A Missense 10/10 - 1
12-6928490-AT-A c.1375del p.*459Efs*26 CdsStopDeletion 10/10 - 1
12-6928747-T-A c.*252T>A - 3-UTRSNV 10/10 - 2
12-6928747-T-C c.*252T>C - 3-UTRSNV 10/10 - 2
12-6929018-A-G c.*523A>G - 3-UTRSNV 10/10 - 1
12-6929912-G-A c.*1417G>A - 3-UTRSNV 10/10 - 1