TF

TF transferrin

Annotation transcript: NM_001063.4

2490 unique variant annotations were identified in 2717 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
3-133465283-A-G c.-2A>G - 5-UTRSNV 1/17 - 19
3-133465283-AGATGAGGCTCGCCGTGGGAGCCCTGCTGGTCTGCGCCGTCCTGGGTGAGTGCGGGCACG-A c.1_43+16del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion 1/17 1/16 1
3-133465286-T-C c.2T>C p.M1? Missense 1/17 - 1
3-133465288-AGG-TGT c.4_6delinsTGT p.R2C Missense 1/17 - 1
3-133465288-AGG-TTT c.4_6delinsTTT p.R2F Missense 1/17 - 1
3-133465288-A-C c.4A>C p.R2= Synonymous 1/17 - 96
3-133465290-G-A c.6G>A p.R2= Synonymous 1/17 - 97
3-133465290-G-C c.6G>C p.R2S Missense 1/17 - 1
3-133465292-TC-AA c.8_9delinsAA p.L3Q Missense 1/17 - 1
3-133465293-C-A c.9C>A p.L3= Synonymous 1/17 - 2
3-133465293-C-G c.9C>G p.L3= Synonymous 1/17 - 2
3-133465293-C-T c.9C>T p.L3= Synonymous 1/17 - 2
3-133465292-TCGC-T c.11_13del p.A4del InFrameDeletion 1/17 - 1
3-133465295-C-CCA c.12_13insAC p.V5Tfs*22 Frameshift 1/17 - 1
3-133465296-C-A c.12C>A p.A4= Synonymous 1/17 - 3
3-133465296-C-G c.12C>G p.A4= Synonymous 1/17 - 1
3-133465296-C-T c.12C>T p.A4= Synonymous 1/17 - 2
3-133465297-G-A c.13G>A p.V5M Missense 1/17 - 2
3-133465297-GTG-ATC c.13_15delinsATC p.V5I Missense 1/17 - 1
3-133465298-T-C c.14T>C p.V5A Missense 1/17 - 2
3-133465299-G-A c.15G>A p.V5= Synonymous 1/17 - 2
3-133465299-G-C c.15G>C p.V5= Synonymous 1/17 - 1
3-133465299-G-T c.15G>T p.V5= Synonymous 1/17 - 1
3-133465297-GTGGGAGCCCTGCTGGTC-G c.16_32del p.G6Rfs*11 Frameshift 1/17 - 1
3-133465300-G-A c.16G>A p.G6R Missense 1/17 - 1
3-133465302-A-C c.18A>C p.G6= Synonymous 1/17 - 2
3-133465302-A-G c.18A>G p.G6= Synonymous 1/17 - 2
3-133465302-A-T c.18A>T p.G6= Synonymous 1/17 - 2
3-133465303-G-T c.19G>T p.A7S Missense 1/17 - 1
3-133465305-C-A c.21C>A p.A7= Synonymous 1/17 - 2
3-133465305-C-G c.21C>G p.A7= Synonymous 1/17 - 2
3-133465305-C-T c.21C>T p.A7= Synonymous 1/17 - 2
3-133465308-G-T c.24G>T p.L8= Synonymous 1/17 - 1
3-133465309-C-CT c.26dup p.V10Gfs*13 Frameshift 1/17 - 1
3-133465310-T-C c.26T>C p.L9P Missense 1/17 - 1
3-133465309-C-T c.25C>T p.L9= Synonymous 1/17 - 1
3-133465311-G-A c.27G>A p.L9= Synonymous 1/17 - 1
3-133465311-G-C c.27G>C p.L9= Synonymous 1/17 - 1
3-133465311-G-T c.27G>T p.L9= Synonymous 1/17 - 2
3-133465312-G-A c.28G>A p.V10I Missense 1/17 - 2
3-133465312-G-C c.28G>C p.V10L Missense 1/17 - 1
3-133465312-GT-AA c.28_29delinsAA p.V10N Missense 1/17 - 1
3-133465312-GT-AG c.28_29delinsAG p.V10S Missense 1/17 - 1
3-133465312-GTC-AAG c.28_30delinsAAG p.V10K Missense 1/17 - 1
3-133465312-GTC-TAA c.28_30delinsTAA p.V10* Nonsense 1/17 - 3
3-133465313-T-C c.29T>C p.V10A Missense 1/17 - 2
3-133465313-TC-AG c.29_30delinsAG p.V10E Missense 1/17 - 2
3-133465315-T-A c.31T>A p.C11S Missense 1/17 - 2
3-133465315-T-C c.31T>C p.C11R Missense 1/17 - 1
3-133465315-T-G c.31T>G p.C11G Missense 1/17 - 1
3-133465315-TG-CA c.31_32inv p.C11H Missense 1/17 - 2
3-133465315-TGC-CAA c.31_33delinsCAA p.C11Q Missense 1/17 - 1
3-133465315-TG-GC c.31_32delinsGC p.C11A Missense 1/17 - 2
3-133465316-G-C c.32G>C p.C11S Missense 1/17 - 2
3-133465316-G-T c.32G>T p.C11F Missense 1/17 - 1
3-133465317-C-T c.33C>T p.C11= Synonymous 1/17 - 9
3-133465318-G-A c.34G>A p.A12T Missense 1/17 - 6
3-133465318-G-C c.34G>C p.A12P Missense 1/17 - 5
3-133465318-GC-AA c.34_35delinsAA p.A12N Missense 1/17 - 1
3-133465318-GC-AT c.34_35delinsAT p.A12I Missense 1/17 - 1
3-133465318-GC-CA c.34_35delinsCA p.A12H Missense 1/17 - 2
3-133465318-GCC-AAG c.34_36delinsAAG p.A12K Missense 1/17 - 2
3-133465318-GCC-ATG c.34_36delinsATG p.A12M Missense 1/17 - 3
3-133465318-GCC-CAA c.34_36delinsCAA p.A12Q Missense 1/17 - 8
3-133465318-GC-CT c.34_35delinsCT p.A12L Missense 1/17 - 4
3-133465318-GCC-TAA c.34_36delinsTAA p.A12* Nonsense 1/17 - 3
3-133465318-GCC-TGG c.34_36delinsTGG p.A12W Missense 1/17 - 5
3-133465318-GC-TA c.34_35delinsTA p.A12Y Missense 1/17 - 2
3-133465318-GC-TG c.34_35delinsTG p.A12C Missense 1/17 - 6
3-133465318-GC-TT c.34_35delinsTT p.A12F Missense 1/17 - 4
3-133465318-G-T c.34G>T p.A12S Missense 1/17 - 2
3-133465319-C-A c.35C>A p.A12D Missense 1/17 - 8
3-133465319-CC-AG c.35_36delinsAG p.A12E Missense 1/17 - 4
3-133465319-C-G c.35C>G p.A12G Missense 1/17 - 2
3-133465319-C-T c.35C>T p.A12V Missense 1/17 - 5
3-133465320-C-A c.36C>A p.A12= Synonymous 1/17 - 15
3-133465320-C-G c.36C>G p.A12= Synonymous 1/17 - 15
3-133465320-C-T c.36C>T p.A12= Synonymous 1/17 - 15
3-133465321-G-A c.37G>A p.V13I Missense 1/17 - 8
3-133465321-G-C c.37G>C p.V13L Missense 1/17 - 1
3-133465321-GT-CC c.37_38delinsCC p.V13P Missense 1/17 - 2
3-133465321-GT-TG c.37_38delinsTG p.V13C Missense 1/17 - 1
3-133465322-T-A c.38T>A p.V13D Missense 1/17 - 1
3-133465322-T-C c.38T>C p.V13A Missense 1/17 - 1
3-133465322-T-G c.38T>G p.V13G Missense 1/17 - 1
3-133465323-C-A c.39C>A p.V13= Synonymous 1/17 - 1
3-133465323-C-G c.39C>G p.V13= Synonymous 1/17 - 1
3-133465323-C-T c.39C>T p.V13= Synonymous 1/17 - 2
3-133465324-C-G c.40C>G p.L14V Missense 1/17 - 1
3-133465324-CT-GA c.40_41delinsGA p.L14E Missense 1/17 - 1
3-133465324-CTG-TTT c.40_42delinsTTT p.L14F Missense 1/17 - 1
3-133465326-G-A c.42G>A p.L14= Synonymous 1/17 - 1
3-133465327-G-A c.43G>A p.G15R Missense 1/17 - 1
3-133465327-G-C c.43G>C p.G15R Missense 1/17 - 1
3-133465335-C-A c.43+8C>A - IntronicSNV - 1/16 1
3-133465353-G-A c.43+26G>A - IntronicSNV - 1/16 1
3-133465353-G-T c.43+26G>T - IntronicSNV - 1/16 1
3-133465699-T-C c.43+372T>C - IntronicSNV - 1/16 2
3-133466155-C-T c.43+828C>T - IntronicSNV - 1/16 1
3-133466222-A-G c.43+895A>G - IntronicSNV - 1/16 2
3-133466374-A-G c.44-882A>G - IntronicSNV - 1/16 5
3-133466457-T-A c.44-799T>A - IntronicSNV - 1/16 3
3-133466457-T-C c.44-799T>C - IntronicSNV - 1/16 3
3-133466588-A-G c.44-668A>G - IntronicSNV - 1/16 1
3-133466885-G-A c.44-371G>A - IntronicSNV - 1/16 1
3-133467256-G-C c.44G>C p.G15A Missense 2/17 - 1
3-133467258-CT-GC c.46_47delinsGC p.L16A Missense 2/17 - 1
3-133467259-T-C c.47T>C p.L16P Missense 2/17 - 3
3-133467259-T-G c.47T>G p.L16R Missense 2/17 - 1
3-133467261-T-A c.49T>A p.C17S Missense 2/17 - 3
3-133467261-T-C c.49T>C p.C17R Missense 2/17 - 1
3-133467261-T-G c.49T>G p.C17G Missense 2/17 - 1
3-133467261-TG-AC c.49_50delinsAC p.C17T Missense 2/17 - 4
3-133467261-TG-CA c.49_50inv p.C17H Missense 2/17 - 2
3-133467261-TG-GA c.49_50delinsGA p.C17D Missense 2/17 - 1
3-133467261-TG-GC c.49_50delinsGC p.C17A Missense 2/17 - 1
3-133467261-TGT-CAA c.49_51delinsCAA p.C17Q Missense 2/17 - 1
3-133467262-G-C c.50G>C p.C17S Missense 2/17 - 3
3-133467262-G-A c.50G>A p.C17Y Missense 2/17 - 1
3-133467262-G-T c.50G>T p.C17F Missense 2/17 - 3
3-133467263-T-C c.51T>C p.C17= Synonymous 2/17 - 1
3-133467264-C-T c.52C>T p.L18= Synonymous 2/17 - 2
3-133467264-CT-GA c.52_53delinsGA p.L18E Missense 2/17 - 4
3-133467264-CT-GC c.52_53delinsGC p.L18A Missense 2/17 - 10
3-133467264-CTG-TTT c.52_54delinsTTT p.L18F Missense 2/17 - 8
3-133467264-CT-TG c.52_53delinsTG p.L18W Missense 2/17 - 2
3-133467265-T-C c.53T>C p.L18P Missense 2/17 - 2
3-133467266-G-A c.54G>A p.L18= Synonymous 2/17 - 1
3-133467266-G-C c.54G>C p.L18= Synonymous 2/17 - 1
3-133467266-G-T c.54G>T p.L18= Synonymous 2/17 - 3
3-133467267-G-A c.55G>A p.A19T Missense 2/17 - 2
3-133467267-GC-AA c.55_56delinsAA p.A19N Missense 2/17 - 2
3-133467267-GCT-AAG c.55_57delinsAAG p.A19K Missense 2/17 - 1
3-133467267-GCT-ATG c.55_57delinsATG p.A19M Missense 2/17 - 2
3-133467267-GC-TG c.55_56delinsTG p.A19C Missense 2/17 - 9
3-133467267-GC-TT c.55_56delinsTT p.A19F Missense 2/17 - 4
3-133467267-GCT-TAA c.55_57delinsTAA p.A19* Nonsense 2/17 - 1
3-133467268-C-A c.56C>A p.A19D Missense 2/17 - 1
3-133467268-C-T c.56C>T p.A19V Missense 2/17 - 1
3-133467269-T-A c.57T>A p.A19= Synonymous 2/17 - 6
3-133467269-T-C c.57T>C p.A19= Synonymous 2/17 - 6
3-133467269-T-G c.57T>G p.A19= Synonymous 2/17 - 6
3-133467270-GTC-ATG c.58_60delinsATG p.V20M Missense 2/17 - 1
3-133467271-T-G c.59T>G p.V20G Missense 2/17 - 1
3-133467272-C-A c.60C>A p.V20= Synonymous 2/17 - 1
3-133467272-C-G c.60C>G p.V20= Synonymous 2/17 - 1
3-133467272-C-T c.60C>T p.V20= Synonymous 2/17 - 1
3-133467273-CC-AA c.61_62delinsAA p.P21N Missense 2/17 - 1
3-133467273-CC-GA c.61_62delinsGA p.P21D Missense 2/17 - 1
3-133467273-CC-GT c.61_62delinsGT p.P21V Missense 2/17 - 1
3-133467273-CCT-GAG c.61_63delinsGAG p.P21E Missense 2/17 - 4
3-133467273-CC-TT c.61_62delinsTT p.P21F Missense 2/17 - 1
3-133467273-CCT-TAA c.61_63delinsTAA p.P21* Nonsense 2/17 - 1
3-133467273-CCT-TGG c.61_63delinsTGG p.P21W Missense 2/17 - 1
3-133467273-C-G c.61C>G p.P21A Missense 2/17 - 1
3-133467273-C-T c.61C>T p.P21S Missense 2/17 - 2
3-133467274-C-A c.62C>A p.P21H Missense 2/17 - 1
3-133467274-C-T c.62C>T p.P21L Missense 2/17 - 1
3-133467275-T-A c.63T>A p.P21= Synonymous 2/17 - 1
3-133467275-T-C c.63T>C p.P21= Synonymous 2/17 - 1
3-133467275-T-G c.63T>G p.P21= Synonymous 2/17 - 1
3-133467276-G-A c.64G>A p.D22N Missense 2/17 - 1
3-133467276-GA-AG c.64_65delinsAG p.D22S Missense 2/17 - 1
3-133467276-GA-TT c.64_65delinsTT p.D22F Missense 2/17 - 1
3-133467277-A-T c.65A>T p.D22V Missense 2/17 - 1
3-133467278-T-A c.66T>A p.D22E Missense 2/17 - 2
3-133467278-T-C c.66T>C p.D22= Synonymous 2/17 - 1
3-133467278-T-G c.66T>G p.D22E Missense 2/17 - 2
3-133467279-AA-GC c.67_68delinsGC p.K23A Missense 2/17 - 1
3-133467279-A-C c.67A>C p.K23Q Missense 2/17 - 1
3-133467279-A-G c.67A>G p.K23E Missense 2/17 - 3
3-133467279-A-T c.67A>T p.K23* Nonsense 2/17 - 1
3-133467280-AA-GC c.68_69delinsGC p.K23S Missense 2/17 - 1
3-133467280-A-G c.68A>G p.K23R Missense 2/17 - 3
3-133467280-A-T c.68A>T p.K23I Missense 2/17 - 1
3-133467281-A-C c.69A>C p.K23N Missense 2/17 - 1
3-133467281-A-G c.69A>G p.K23= Synonymous 2/17 - 1
3-133467281-A-T c.69A>T p.K23N Missense 2/17 - 1
3-133467282-A-C c.70A>C p.T24P Missense 2/17 - 1
3-133467282-AC-CA c.70_71delinsCA p.T24H Missense 2/17 - 8
3-133467282-AC-CT c.70_71delinsCT p.T24L Missense 2/17 - 1
3-133467282-AC-GT c.70_71inv p.T24V Missense 2/17 - 1
3-133467282-AC-TT c.70_71delinsTT p.T24F Missense 2/17 - 1
3-133467282-A-G c.70A>G p.T24A Missense 2/17 - 2
3-133467282-A-T c.70A>T p.T24S Missense 2/17 - 2
3-133467283-C-A c.71C>A p.T24N Missense 2/17 - 1
3-133467283-C-G c.71C>G p.T24S Missense 2/17 - 2
3-133467283-C-T c.71C>T p.T24I Missense 2/17 - 2
3-133467283-CT-GG c.71_72delinsGG p.T24R Missense 2/17 - 1
3-133467284-T-A c.72T>A p.T24= Synonymous 2/17 - 8
3-133467284-T-C c.72T>C p.T24= Synonymous 2/17 - 7
3-133467284-T-G c.72T>G p.T24= Synonymous 2/17 - 7
3-133467285-GTG-AAC c.73_75delinsAAC p.V25N Missense 2/17 - 2
3-133467286-T-G c.74T>G p.V25G Missense 2/17 - 3
3-133467287-G-A c.75G>A p.V25= Synonymous 2/17 - 1
3-133467287-G-C c.75G>C p.V25= Synonymous 2/17 - 1
3-133467288-AGA-CAT c.76_78delinsCAT p.R26H Missense 2/17 - 1
3-133467288-AGA-TAT c.76_78delinsTAT p.R26Y Missense 2/17 - 2
3-133467288-AGA-TGT c.76_78delinsTGT p.R26C Missense 2/17 - 1
3-133467288-AG-CA c.76_77delinsCA p.R26Q Missense 2/17 - 1
3-133467288-AG-CC c.76_77delinsCC p.R26P Missense 2/17 - 1
3-133467288-AG-GC c.76_77delinsGC p.R26A Missense 2/17 - 3
3-133467288-A-T c.76A>T p.R26* Nonsense 2/17 - 1
3-133467289-G-A c.77G>A p.R26K Missense 2/17 - 1
3-133467289-G-C c.77G>C p.R26T Missense 2/17 - 4
3-133467289-G-T c.77G>T p.R26I Missense 2/17 - 1
3-133467288-A-C c.76A>C p.R26= Synonymous 2/17 - 72
3-133467290-A-C c.78A>C p.R26S Missense 2/17 - 3
3-133467290-A-G c.78A>G p.R26= Synonymous 2/17 - 72
3-133467290-A-T c.78A>T p.R26S Missense 2/17 - 3
3-133467291-TG-GC c.79_80delinsGC p.W27A Missense 2/17 - 1
3-133467292-G-A c.80G>A p.W27* Nonsense 2/17 - 1
3-133467292-G-C c.80G>C p.W27S Missense 2/17 - 3
3-133467293-G-A c.81G>A p.W27* Nonsense 2/17 - 1
3-133467294-T-A c.82T>A p.C28S Missense 2/17 - 2
3-133467294-T-G c.82T>G p.C28G Missense 2/17 - 1
3-133467294-TG-AC c.82_83delinsAC p.C28T Missense 2/17 - 1
3-133467294-TG-GA c.82_83delinsGA p.C28D Missense 2/17 - 2
3-133467294-TG-GC c.82_83delinsGC p.C28A Missense 2/17 - 1
3-133467294-TGT-GAG c.82_84delinsGAG p.C28E Missense 2/17 - 1
3-133467295-G-C c.83G>C p.C28S Missense 2/17 - 2
3-133467295-G-A c.83G>A p.C28Y Missense 2/17 - 1
3-133467295-G-T c.83G>T p.C28F Missense 2/17 - 2
3-133467296-T-C c.84T>C p.C28= Synonymous 2/17 - 1
3-133467297-G-A c.85G>A p.A29T Missense 2/17 - 3
3-133467297-G-C c.85G>C p.A29P Missense 2/17 - 1
3-133467297-GCA-AAC c.85_87delinsAAC p.A29N Missense 2/17 - 2
3-133467297-GCA-ATG c.85_87delinsATG p.A29M Missense 2/17 - 5
3-133467297-GCA-CAT c.85_87delinsCAT p.A29H Missense 2/17 - 2
3-133467297-GC-AG c.85_86delinsAG p.A29R Missense 2/17 - 1
3-133467297-GC-AT c.85_86delinsAT p.A29I Missense 2/17 - 2
3-133467297-GCA-TGG c.85_87delinsTGG p.A29W Missense 2/17 - 1
3-133467297-GCA-TGT c.85_87delinsTGT p.A29C Missense 2/17 - 4
3-133467297-GCA-TTT c.85_87delinsTTT p.A29F Missense 2/17 - 3
3-133467297-GC-CA c.85_86delinsCA p.A29Q Missense 2/17 - 1
3-133467297-GC-CT c.85_86delinsCT p.A29L Missense 2/17 - 3
3-133467297-GC-TA c.85_86delinsTA p.A29* Nonsense 2/17 - 1
3-133467297-G-T c.85G>T p.A29S Missense 2/17 - 2
3-133467298-C-A c.86C>A p.A29E Missense 2/17 - 4
3-133467298-CA-AC c.86_87delinsAC p.A29D Missense 2/17 - 12
3-133467298-C-G c.86C>G p.A29G Missense 2/17 - 1
3-133467298-C-T c.86C>T p.A29V Missense 2/17 - 3
3-133467299-A-C c.87A>C p.A29= Synonymous 2/17 - 4
3-133467299-A-G c.87A>G p.A29= Synonymous 2/17 - 4
3-133467299-A-T c.87A>T p.A29= Synonymous 2/17 - 4
3-133467299-A-AG c.88dup p.V30Gfs*5 Frameshift 2/17 - 1
3-133467300-G-A c.88G>A p.V30M Missense 2/17 - 10
3-133467300-GT-AG c.88_89delinsAG p.V30R Missense 2/17 - 2
3-133467303-GT-G c.91del p.S31Rfs*15 Frameshift 2/17 - 1
3-133467303-T-A c.91T>A p.S31T Missense 2/17 - 2
3-133467303-TC-AG c.91_92delinsAG p.S31R Missense 2/17 - 1
3-133467303-TC-AT c.91_92delinsAT p.S31M Missense 2/17 - 1
3-133467303-TCG-AAC c.91_93delinsAAC p.S31N Missense 2/17 - 2
3-133467303-TC-GG c.91_92delinsGG p.S31G Missense 2/17 - 1
3-133467303-TCG-GAC c.91_93delinsGAC p.S31D Missense 2/17 - 2
3-133467303-T-G c.91T>G p.S31A Missense 2/17 - 6
3-133467304-C-G c.92C>G p.S31W Missense 2/17 - 1
3-133467304-CG-GT c.92_93delinsGT p.S31C Missense 2/17 - 2
3-133467304-C-T c.92C>T p.S31L Missense 2/17 - 1
3-133467305-G-A c.93G>A p.S31= Synonymous 2/17 - 1
3-133467305-G-C c.93G>C p.S31= Synonymous 2/17 - 1
3-133467305-G-T c.93G>T p.S31= Synonymous 2/17 - 2
3-133467306-G-A c.94G>A p.E32K Missense 2/17 - 3
3-133467306-GA-CT c.94_95delinsCT p.E32L Missense 2/17 - 1
3-133467306-G-C c.94G>C p.E32Q Missense 2/17 - 1
3-133467307-A-C c.95A>C p.E32A Missense 2/17 - 1
3-133467308-G-C c.96G>C p.E32D Missense 2/17 - 4
3-133467308-G-T c.96G>T p.E32D Missense 2/17 - 4
3-133467309-C-A c.97C>A p.H33N Missense 2/17 - 1
3-133467309-CA-AG c.97_98delinsAG p.H33S Missense 2/17 - 1
3-133467309-C-T c.97C>T p.H33Y Missense 2/17 - 1
3-133467310-A-T c.98A>T p.H33L Missense 2/17 - 1
3-133467311-T-A c.99T>A p.H33Q Missense 2/17 - 3
3-133467311-T-G c.99T>G p.H33Q Missense 2/17 - 4
3-133467312-G-A c.100G>A p.E34K Missense 2/17 - 1
3-133467312-GAG-TGT c.100_102delinsTGT p.E34C Missense 2/17 - 1
3-133467312-G-C c.100G>C p.E34Q Missense 2/17 - 1
3-133467312-G-T c.100G>T p.E34* Nonsense 2/17 - 3
3-133467313-A-G c.101A>G p.E34G Missense 2/17 - 2
3-133467315-GC-CG c.103_104delinsCG p.A35R Missense 2/17 - 1
3-133467315-GC-TG c.103_104delinsTG p.A35C Missense 2/17 - 4
3-133467315-GC-TT c.103_104delinsTT p.A35F Missense 2/17 - 1
3-133467315-G-T c.103G>T p.A35S Missense 2/17 - 2
3-133467316-C-A c.104C>A p.A35D Missense 2/17 - 1
3-133467316-CC-AG c.104_105delinsAG p.A35E Missense 2/17 - 1
3-133467316-C-G c.104C>G p.A35G Missense 2/17 - 2
3-133467316-C-T c.104C>T p.A35V Missense 2/17 - 1
3-133467317-C-A c.105C>A p.A35= Synonymous 2/17 - 4
3-133467317-C-G c.105C>G p.A35= Synonymous 2/17 - 4
3-133467317-C-T c.105C>T p.A35= Synonymous 2/17 - 4
3-133467318-AC-CA c.106_107delinsCA p.T36H Missense 2/17 - 1
3-133467318-ACT-TAA c.106_108delinsTAA p.T36* Nonsense 2/17 - 1
3-133467319-C-A c.107C>A p.T36N Missense 2/17 - 1
3-133467319-C-G c.107C>G p.T36S Missense 2/17 - 1
3-133467319-C-T c.107C>T p.T36I Missense 2/17 - 1
3-133467319-CT-TG c.107_108delinsTG p.T36M Missense 2/17 - 1
3-133467321-A-C c.109A>C p.K37Q Missense 2/17 - 1
3-133467321-A-G c.109A>G p.K37E Missense 2/17 - 1
3-133467322-A-G c.110A>G p.K37R Missense 2/17 - 2
3-133467322-A-T c.110A>T p.K37M Missense 2/17 - 2
3-133467323-G-A c.111G>A p.K37= Synonymous 2/17 - 1
3-133467324-T-A c.112T>A p.C38S Missense 2/17 - 2
3-133467324-T-C c.112T>C p.C38R Missense 2/17 - 2
3-133467324-T-G c.112T>G p.C38G Missense 2/17 - 1
3-133467324-TG-AC c.112_113delinsAC p.C38T Missense 2/17 - 2
3-133467324-TG-CA c.112_113inv p.C38H Missense 2/17 - 1
3-133467324-TG-GC c.112_113delinsGC p.C38A Missense 2/17 - 4
3-133467325-G-C c.113G>C p.C38S Missense 2/17 - 2
3-133467325-G-T c.113G>T p.C38F Missense 2/17 - 1
3-133467326-C-T c.114C>T p.C38= Synonymous 2/17 - 3
3-133467327-C-G c.115C>G p.Q39E Missense 2/17 - 1
3-133467327-C-T c.115C>T p.Q39* Nonsense 2/17 - 1
3-133467328-A-G c.116A>G p.Q39R Missense 2/17 - 1
3-133467328-A-T c.116A>T p.Q39L Missense 2/17 - 2
3-133467329-G-A c.117G>A p.Q39= Synonymous 2/17 - 1
3-133467329-G-C c.117G>C p.Q39H Missense 2/17 - 1
3-133467329-G-T c.117G>T p.Q39H Missense 2/17 - 1
3-133467330-AG-GC c.118_119delinsGC p.S40A Missense 2/17 - 1
3-133467330-A-T c.118A>T p.S40C Missense 2/17 - 2
3-133467331-G-A c.119G>A p.S40N Missense 2/17 - 5
3-133467331-GT-TG c.119_120delinsTG p.S40M Missense 2/17 - 1
3-133467333-T-C c.121T>C p.F41L Missense 2/17 - 2
3-133467333-TT-GC c.121_122delinsGC p.F41A Missense 2/17 - 1
3-133467335-C-A c.123C>A p.F41L Missense 2/17 - 1
3-133467334-T-A c.122T>A p.F41Y Missense 2/17 - 1
3-133467334-TC-AA c.122_123delinsAA p.F41* Nonsense 2/17 - 2
3-133467335-C-G c.123C>G p.F41L Missense 2/17 - 2
3-133467336-C-A c.124C>A p.R42S Missense 2/17 - 1
3-133467336-CGC-AAG c.124_126delinsAAG p.R42K Missense 2/17 - 1
3-133467336-CGC-GAG c.124_126delinsGAG p.R42E Missense 2/17 - 1
3-133467336-CG-GC c.124_125delinsGC p.R42A Missense 2/17 - 4
3-133467336-CG-TT c.124_125delinsTT p.R42F Missense 2/17 - 1
3-133467336-C-T c.124C>T p.R42C Missense 2/17 - 3
3-133467337-G-A c.125G>A p.R42H Missense 2/17 - 5
3-133467337-G-C c.125G>C p.R42P Missense 2/17 - 2
3-133467337-GC-AA c.125_126delinsAA p.R42Q Missense 2/17 - 1
3-133467337-G-T c.125G>T p.R42L Missense 2/17 - 5
3-133467338-C-A c.126C>A p.R42= Synonymous 2/17 - 1
3-133467338-C-G c.126C>G p.R42= Synonymous 2/17 - 1
3-133467338-C-T c.126C>T p.R42= Synonymous 2/17 - 2
3-133467338-GCGACCATAT-G c.126_134del p.D43_M45del InFrameDeletion 2/17 - 1
3-133467339-G-A c.127G>A p.D43N Missense 2/17 - 7
3-133467339-GA-TT c.127_128delinsTT p.D43F Missense 2/17 - 1
3-133467341-C-T c.129C>T p.D43= Synonymous 2/17 - 1
3-133467342-C-T c.130C>T p.H44Y Missense 2/17 - 1
3-133467344-T-C c.132T>C p.H44= Synonymous 2/17 - 1
3-133467345-AT-CA c.133_134delinsCA p.M45Q Missense 2/17 - 1
3-133467345-AT-GC c.133_134delinsGC p.M45A Missense 2/17 - 3
3-133467345-ATG-CAT c.133_135inv p.M45H Missense 2/17 - 2
3-133467345-ATG-GAC c.133_135delinsGAC p.M45D Missense 2/17 - 1
3-133467347-G-A c.135G>A p.M45I Missense 2/17 - 3
3-133467347-G-C c.135G>C p.M45I Missense 2/17 - 1
3-133467347-G-T c.135G>T p.M45I Missense 2/17 - 2
3-133467348-AAA-TGT c.136_138delinsTGT p.K46C Missense 2/17 - 1
3-133467348-AA-GC c.136_137delinsGC p.K46A Missense 2/17 - 3
3-133467348-A-C c.136A>C p.K46Q Missense 2/17 - 1
3-133467348-A-G c.136A>G p.K46E Missense 2/17 - 2
3-133467349-A-G c.137A>G p.K46R Missense 2/17 - 2
3-133467350-A-G c.138A>G p.K46= Synonymous 2/17 - 1
3-133467351-A-G c.139A>G p.S47G Missense 2/17 - 2
3-133467351-AGC-GAG c.139_141delinsGAG p.S47E Missense 2/17 - 1
3-133467351-AG-CT c.139_140inv p.S47L Missense 2/17 - 1
3-133467351-AG-GA c.139_140delinsGA p.S47D Missense 2/17 - 1
3-133467351-A-T c.139A>T p.S47C Missense 2/17 - 4
3-133467353-C-T c.141C>T p.S47= Synonymous 2/17 - 1
3-133467354-G-A c.142G>A p.V48I Missense 2/17 - 1
3-133467354-G-T c.142G>T p.V48F Missense 2/17 - 1
3-133467355-T-G c.143T>G p.V48G Missense 2/17 - 1
3-133467357-A-G c.145A>G p.I49V Missense 2/17 - 1
3-133467358-T-G c.146T>G p.I49S Missense 2/17 - 1
3-133467359-T-G c.147T>G p.I49M Missense 2/17 - 2
3-133467360-C-A c.148C>A p.P50T Missense 2/17 - 3
3-133467360-CCA-ATG c.148_150delinsATG p.P50M Missense 2/17 - 2
3-133467360-CC-GG c.148_149inv p.P50G Missense 2/17 - 1
3-133467360-CC-TA c.148_149delinsTA p.P50* Nonsense 2/17 - 1
3-133467360-C-CTTGATAATTTTG c.148_149insTTGATAATTTTG p.P50delinsLDNFA MultiAAMissense 2/17 - 1
3-133467360-C-G c.148C>G p.P50A Missense 2/17 - 2
3-133467360-C-T c.148C>T p.P50S Missense 2/17 - 1
3-133467361-C-T c.149C>T p.P50L Missense 2/17 - 6
3-133467362-A-C c.150A>C p.P50= Synonymous 2/17 - 1
3-133467362-A-G c.150A>G p.P50= Synonymous 2/17 - 1
3-133467362-A-T c.150A>T p.P50= Synonymous 2/17 - 1
3-133467363-TC-AT c.151_152delinsAT p.S51I Missense 2/17 - 1
3-133467363-TC-GA c.151_152inv p.S51D Missense 2/17 - 1
3-133467363-TC-GG c.151_152delinsGG p.S51G Missense 2/17 - 1
3-133467363-T-G c.151T>G p.S51A Missense 2/17 - 14
3-133467366-G-A c.154G>A p.D52N Missense 2/17 - 3
3-133467366-GA-AG c.154_155delinsAG p.D52S Missense 2/17 - 1
3-133467366-G-T c.154G>T p.D52Y Missense 2/17 - 1
3-133467367-A-C c.155A>C p.D52A Missense 2/17 - 3
3-133467368-T-C c.156T>C p.D52= Synonymous 2/17 - 2
3-133467369-G-A c.157G>A p.G53S Missense 2/17 - 2
3-133467370-G-C c.158G>C p.G53A Missense 2/17 - 1
3-133467370-GT-AG c.158_159delinsAG p.G53E Missense 2/17 - 2
3-133467372-CCC-TAA c.160_162delinsTAA p.P54* Nonsense 2/17 - 1
3-133467372-CC-TG c.160_161delinsTG p.P54C Missense 2/17 - 2
3-133467372-C-G c.160C>G p.P54A Missense 2/17 - 1
3-133467372-C-T c.160C>T p.P54S Missense 2/17 - 1
3-133467373-C-A c.161C>A p.P54H Missense 2/17 - 1
3-133467373-C-T c.161C>T p.P54L Missense 2/17 - 3
3-133467375-A-G c.163A>G p.S55G Missense 2/17 - 3
3-133467375-AG-GA c.163_164delinsGA p.S55D Missense 2/17 - 1
3-133467375-AG-GC c.163_164delinsGC p.S55A Missense 2/17 - 2
3-133467375-AG-TT c.163_164delinsTT p.S55F Missense 2/17 - 1
3-133467376-G-A c.164G>A p.S55N Missense 2/17 - 2
3-133467376-G-C c.164G>C p.S55T Missense 2/17 - 3
3-133467375-A-C c.163A>C p.S55R Missense 2/17 - 3
3-133467377-T-A c.165T>A p.S55R Missense 2/17 - 7
3-133467377-T-C c.165T>C p.S55= Synonymous 2/17 - 2
3-133467377-T-G c.165T>G p.S55R Missense 2/17 - 3
3-133467378-GTT-TAA c.166_168delinsTAA p.V56* Nonsense 2/17 - 1
3-133467379-TT-AG c.167_168delinsAG p.V56E Missense 2/17 - 1
3-133467378-G-GT c.168dup p.A57Cfs*10 Frameshift 2/17 - 1
3-133467381-GC-CA c.169_170delinsCA p.A57H Missense 2/17 - 1
3-133467381-GC-CG c.169_170delinsCG p.A57R Missense 2/17 - 1
3-133467381-GCT-ATG c.169_171delinsATG p.A57M Missense 2/17 - 1
3-133467381-GC-TG c.169_170delinsTG p.A57C Missense 2/17 - 2
3-133467381-GC-TT c.169_170delinsTT p.A57F Missense 2/17 - 5
3-133467382-C-A c.170C>A p.A57D Missense 2/17 - 5
3-133467382-C-G c.170C>G p.A57G Missense 2/17 - 1
3-133467382-CT-AG c.170_171inv p.A57E Missense 2/17 - 1
3-133467383-T-A c.171T>A p.A57= Synonymous 2/17 - 5
3-133467383-T-C c.171T>C p.A57= Synonymous 2/17 - 5
3-133467383-T-G c.171T>G p.A57= Synonymous 2/17 - 5
3-133467384-T-C c.172T>C p.C58R Missense 2/17 - 1
3-133467384-TG-GC c.172_173delinsGC p.C58A Missense 2/17 - 3
3-133467385-G-A c.173G>A p.C58Y Missense 2/17 - 1
3-133467385-G-T c.173G>T p.C58F Missense 2/17 - 2
3-133467386-T-C c.174T>C p.C58= Synonymous 2/17 - 4
3-133467387-GTG-ATC c.175_177delinsATC p.V59I Missense 2/17 - 1
3-133467388-T-C c.176T>C p.V59A Missense 2/17 - 1
3-133467390-AA-GC c.178_179delinsGC p.K60A Missense 2/17 - 5
3-133467390-AAG-TGT c.178_180delinsTGT p.K60C Missense 2/17 - 1
3-133467390-A-G c.178A>G p.K60E Missense 2/17 - 3
3-133467391-A-G c.179A>G p.K60R Missense 2/17 - 1
3-133467392-G-A c.180G>A p.K60= Synonymous 2/17 - 2
3-133467393-A-G c.181A>G p.K61E Missense 2/17 - 1
3-133467393-A-T c.181A>T p.K61* Nonsense 2/17 - 4
3-133467396-G-A c.184G>A p.A62T Missense 2/17 - 3
3-133467396-G-C c.184G>C p.A62P Missense 2/17 - 1
3-133467396-GC-AA c.184_185delinsAA p.A62N Missense 2/17 - 1
3-133467396-GCC-TAA c.184_186delinsTAA p.A62* Nonsense 2/17 - 1
3-133467396-GC-TA c.184_185delinsTA p.A62Y Missense 2/17 - 2
3-133467396-GC-TG c.184_185delinsTG p.A62C Missense 2/17 - 5
3-133467396-GC-TT c.184_185delinsTT p.A62F Missense 2/17 - 1
3-133467396-G-T c.184G>T p.A62S Missense 2/17 - 4
3-133467397-C-A c.185C>A p.A62D Missense 2/17 - 2
3-133467397-C-G c.185C>G p.A62G Missense 2/17 - 1
3-133467397-C-T c.185C>T p.A62V Missense 2/17 - 18
3-133467398-C-A c.186C>A p.A62= Synonymous 2/17 - 3
3-133467398-C-G c.186C>G p.A62= Synonymous 2/17 - 3
3-133467398-C-T c.186C>T p.A62= Synonymous 2/17 - 3
3-133467399-TC-AA c.187_188delinsAA p.S63N Missense 2/17 - 1
3-133467399-TC-GA c.187_188inv p.S63D Missense 2/17 - 1
3-133467399-T-G c.187T>G p.S63A Missense 2/17 - 2
3-133467400-C-T c.188C>T p.S63F Missense 2/17 - 1
3-133467401-C-A c.189C>A p.S63= Synonymous 2/17 - 1
3-133467401-C-G c.189C>G p.S63= Synonymous 2/17 - 1
3-133467401-C-T c.189C>T p.S63= Synonymous 2/17 - 1
3-133467402-TA-AT c.190_191delinsAT p.Y64I Missense 2/17 - 1
3-133467402-TA-GC c.190_191delinsGC p.Y64A Missense 2/17 - 1
3-133467402-TA-GT c.190_191delinsGT p.Y64V Missense 2/17 - 1
3-133467403-A-G c.191A>G p.Y64C Missense 2/17 - 1
3-133467405-C-A c.193C>A p.L65I Missense 2/17 - 1
3-133467405-CCTT-C c.193_195del p.L65del InFrameDeletion 2/17 - 1
3-133467405-C-G c.193C>G p.L65V Missense 2/17 - 1
3-133467405-C-T c.193C>T p.L65F Missense 2/17 - 1
3-133467405-CT-GC c.193_194delinsGC p.L65A Missense 2/17 - 1
3-133467405-CTT-ATG c.193_195delinsATG p.L65M Missense 2/17 - 1
3-133467408-G-A c.196G>A p.D66N Missense 2/17 - 2
3-133467408-GA-CG c.196_197delinsCG p.D66R Missense 2/17 - 1
3-133467408-GA-CT c.196_197delinsCT p.D66L Missense 2/17 - 1
3-133467408-GA-TG c.196_197delinsTG p.D66C Missense 2/17 - 1
3-133467408-GA-TT c.196_197delinsTT p.D66F Missense 2/17 - 3
3-133467408-GAT-TAA c.196_198delinsTAA p.D66* Nonsense 2/17 - 1
3-133467408-G-C c.196G>C p.D66H Missense 2/17 - 1
3-133467408-G-T c.196G>T p.D66Y Missense 2/17 - 1
3-133467409-A-C c.197A>C p.D66A Missense 2/17 - 1
3-133467409-A-T c.197A>T p.D66V Missense 2/17 - 2
3-133467410-T-A c.198T>A p.D66E Missense 2/17 - 4
3-133467410-T-G c.198T>G p.D66E Missense 2/17 - 4
3-133467411-T-A c.199T>A p.C67S Missense 2/17 - 1
3-133467411-TGC-GAG c.199_201delinsGAG p.C67E Missense 2/17 - 1
3-133467411-TG-GC c.199_200delinsGC p.C67A Missense 2/17 - 3
3-133467412-G-C c.200G>C p.C67S Missense 2/17 - 1
3-133467412-G-A c.200G>A p.C67Y Missense 2/17 - 1
3-133467412-G-T c.200G>T p.C67F Missense 2/17 - 4
3-133467413-C-A c.201C>A p.C67* Nonsense 2/17 - 2
3-133467413-C-G c.201C>G p.C67W Missense 2/17 - 1
3-133467413-C-T c.201C>T p.C67= Synonymous 2/17 - 2
3-133467414-A-C c.202A>C p.I68L Missense 2/17 - 1
3-133467414-AT-GC c.202_203delinsGC p.I68A Missense 2/17 - 1
3-133467417-A-G c.205A>G p.R69G Missense 2/17 - 2
3-133467417-AG-CC c.205_206delinsCC p.R69P Missense 2/17 - 1
3-133467417-AG-CT c.205_206inv p.R69L Missense 2/17 - 1
3-133467417-AG-GC c.205_206delinsGC p.R69A Missense 2/17 - 3
3-133467419-G-A c.207G>A p.R69= Synonymous 2/17 - 2
3-133467420-GC-TG c.208_209delinsTG p.A70C Missense 2/17 - 3
3-133467420-GC-TT c.208_209delinsTT p.A70F Missense 2/17 - 3
3-133467420-G-T c.208G>T p.A70S Missense 2/17 - 1
3-133467421-C-A c.209C>A p.A70D Missense 2/17 - 1
3-133467421-CC-AG c.209_210delinsAG p.A70E Missense 2/17 - 2
3-133467421-C-T c.209C>T p.A70V Missense 2/17 - 1
3-133467422-C-A c.210C>A p.A70= Synonymous 2/17 - 2
3-133467422-C-G c.210C>G p.A70= Synonymous 2/17 - 2
3-133467422-C-T c.210C>T p.A70= Synonymous 2/17 - 2
3-133467423-A-G c.211A>G p.I71V Missense 2/17 - 1
3-133467424-T-C c.212T>C p.I71T Missense 2/17 - 2
3-133467424-T-G c.212T>G p.I71S Missense 2/17 - 1
3-133467425-T-G c.213T>G p.I71M Missense 2/17 - 1
3-133467426-G-A c.214G>A p.A72T Missense 2/17 - 1
3-133467426-GCG-TGT c.214_216delinsTGT p.A72C Missense 2/17 - 7
3-133467426-GCG-TTT c.214_216delinsTTT p.A72F Missense 2/17 - 3
3-133467427-C-A c.215C>A p.A72E Missense 2/17 - 4
3-133467427-C-G c.215C>G p.A72G Missense 2/17 - 1
3-133467427-CG-AC c.215_216delinsAC p.A72D Missense 2/17 - 3
3-133467427-C-T c.215C>T p.A72V Missense 2/17 - 4
3-133467428-G-A c.216G>A p.A72= Synonymous 2/17 - 2
3-133467428-G-C c.216G>C p.A72= Synonymous 2/17 - 1
3-133467428-G-T c.216G>T p.A72= Synonymous 2/17 - 1
3-133467435-C-T c.216+7C>T - IntronicSNV - 2/16 1
3-133467469-A-T c.216+41A>T - IntronicSNV - 2/16 1
3-133467696-C-T c.216+268C>T - IntronicSNV - 2/16 2
3-133468139-G-A c.216+711G>A - IntronicSNV - 2/16 2
3-133468425-A-G c.216+997A>G - IntronicSNV - 2/16 1
3-133472227-A-C c.217-212A>C - IntronicSNV - 2/16 1
3-133472439-G-A c.217G>A p.A73T Missense 3/17 - 1
3-133472439-GCA-TAT c.217_219delinsTAT p.A73Y Missense 3/17 - 2
3-133472439-GCA-TGG c.217_219delinsTGG p.A73W Missense 3/17 - 1
3-133472439-GCA-TGT c.217_219delinsTGT p.A73C Missense 3/17 - 6
3-133472439-GCA-TTT c.217_219delinsTTT p.A73F Missense 3/17 - 7
3-133472440-C-A c.218C>A p.A73E Missense 3/17 - 4
3-133472440-CA-AC c.218_219delinsAC p.A73D Missense 3/17 - 2
3-133472440-C-G c.218C>G p.A73G Missense 3/17 - 3
3-133472440-C-T c.218C>T p.A73V Missense 3/17 - 2
3-133472441-A-C c.219A>C p.A73= Synonymous 3/17 - 3
3-133472441-A-G c.219A>G p.A73= Synonymous 3/17 - 3
3-133472441-A-T c.219A>T p.A73= Synonymous 3/17 - 3
3-133472442-A-G c.220A>G p.N74D Missense 3/17 - 6
3-133472443-A-C c.221A>C p.N74T Missense 3/17 - 1
3-133472444-C-A c.222C>A p.N74K Missense 3/17 - 2
3-133472444-C-G c.222C>G p.N74K Missense 3/17 - 2
3-133472444-C-T c.222C>T p.N74= Synonymous 3/17 - 4
3-133472445-G-A c.223G>A p.E75K Missense 3/17 - 8
3-133472445-GAA-TGT c.223_225delinsTGT p.E75C Missense 3/17 - 2
3-133472445-G-C c.223G>C p.E75Q Missense 3/17 - 1
3-133472446-A-C c.224A>C p.E75A Missense 3/17 - 5
3-133472447-A-G c.225A>G p.E75= Synonymous 3/17 - 1
3-133472448-G-C c.226G>C p.A76P Missense 3/17 - 1
3-133472448-GCG-TGT c.226_228delinsTGT p.A76C Missense 3/17 - 2
3-133472448-GCG-TTT c.226_228delinsTTT p.A76F Missense 3/17 - 4
3-133472448-G-T c.226G>T p.A76S Missense 3/17 - 2
3-133472449-C-A c.227C>A p.A76E Missense 3/17 - 3
3-133472449-C-G c.227C>G p.A76G Missense 3/17 - 1
3-133472449-C-T c.227C>T p.A76V Missense 3/17 - 8
3-133472450-G-A c.228G>A p.A76= Synonymous 3/17 - 2
3-133472450-G-C c.228G>C p.A76= Synonymous 3/17 - 1
3-133472450-G-T c.228G>T p.A76= Synonymous 3/17 - 1
3-133472451-G-A c.229G>A p.D77N Missense 3/17 - 11
3-133472451-GA-AG c.229_230delinsAG p.D77S Missense 3/17 - 1
3-133472451-GA-TT c.229_230delinsTT p.D77F Missense 3/17 - 1
3-133472451-GAT-TAA c.229_231delinsTAA p.D77* Nonsense 3/17 - 1
3-133472451-G-C c.229G>C p.D77H Missense 3/17 - 1
3-133472452-A-C c.230A>C p.D77A Missense 3/17 - 1
3-133472454-G-A c.232G>A p.A78T Missense 3/17 - 3
3-133472454-G-C c.232G>C p.A78P Missense 3/17 - 1
3-133472454-GC-AA c.232_233delinsAA p.A78N Missense 3/17 - 1
3-133472454-GC-CT c.232_233delinsCT p.A78L Missense 3/17 - 1
3-133472454-GCT-AAG c.232_234delinsAAG p.A78K Missense 3/17 - 1
3-133472454-GCT-ATG c.232_234delinsATG p.A78M Missense 3/17 - 1
3-133472454-GC-TG c.232_233delinsTG p.A78C Missense 3/17 - 1
3-133472454-GC-TT c.232_233delinsTT p.A78F Missense 3/17 - 2
3-133472454-GCT-TGG c.232_234delinsTGG p.A78W Missense 3/17 - 1
3-133472454-G-T c.232G>T p.A78S Missense 3/17 - 1
3-133472455-C-A c.233C>A p.A78D Missense 3/17 - 2
3-133472455-C-G c.233C>G p.A78G Missense 3/17 - 2
3-133472455-C-T c.233C>T p.A78V Missense 3/17 - 4
3-133472455-CT-AG c.233_234inv p.A78E Missense 3/17 - 2
3-133472456-T-A c.234T>A p.A78= Synonymous 3/17 - 3
3-133472456-T-C c.234T>C p.A78= Synonymous 3/17 - 2
3-133472456-T-G c.234T>G p.A78= Synonymous 3/17 - 2
3-133472457-G-A c.235G>A p.V79M Missense 3/17 - 1
3-133472457-G-C c.235G>C p.V79L Missense 3/17 - 1
3-133472457-GT-CA c.235_236delinsCA p.V79Q Missense 3/17 - 1
3-133472457-GTG-TTT c.235_237delinsTTT p.V79F Missense 3/17 - 1
3-133472460-AC-GT c.238_239inv p.T80V Missense 3/17 - 1
3-133472460-AC-TA c.238_239delinsTA p.T80* Nonsense 3/17 - 2
3-133472460-A-G c.238A>G p.T80A Missense 3/17 - 1
3-133472461-CA-AC c.239_240delinsAC p.T80N Missense 3/17 - 2
3-133472463-CT-GC c.241_242delinsGC p.L81A Missense 3/17 - 1
3-133472463-CT-TC c.241_242delinsTC p.L81S Missense 3/17 - 1
3-133472463-C-T c.241C>T p.L81= Synonymous 3/17 - 2
3-133472465-G-A c.243G>A p.L81= Synonymous 3/17 - 2
3-133472465-G-C c.243G>C p.L81= Synonymous 3/17 - 3
3-133472465-G-T c.243G>T p.L81= Synonymous 3/17 - 3
3-133472468-T-A c.246T>A p.D82E Missense 3/17 - 1
3-133472468-T-G c.246T>G p.D82E Missense 3/17 - 1
3-133472469-G-A c.247G>A p.A83T Missense 3/17 - 1
3-133472469-G-C c.247G>C p.A83P Missense 3/17 - 2
3-133472469-GCA-TGT c.247_249delinsTGT p.A83C Missense 3/17 - 2
3-133472469-G-T c.247G>T p.A83S Missense 3/17 - 1
3-133472470-C-A c.248C>A p.A83E Missense 3/17 - 3
3-133472470-CA-AC c.248_249delinsAC p.A83D Missense 3/17 - 4
3-133472470-C-T c.248C>T p.A83V Missense 3/17 - 2
3-133472471-A-C c.249A>C p.A83= Synonymous 3/17 - 1
3-133472471-A-G c.249A>G p.A83= Synonymous 3/17 - 1
3-133472471-A-T c.249A>T p.A83= Synonymous 3/17 - 1
3-133472472-G-A c.250G>A p.G84S Missense 3/17 - 3
3-133472472-G-GCAAA c.250_251insCAAA p.G84Afs*6 Frameshift 3/17 - 1
3-133472472-G-T c.250G>T p.G84C Missense 3/17 - 1
3-133472473-G-T c.251G>T p.G84V Missense 3/17 - 1
3-133472473-GT-AG c.251_252delinsAG p.G84E Missense 3/17 - 1
3-133472475-TT-CA c.253_254delinsCA p.L85Q Missense 3/17 - 1
3-133472475-TT-CC c.253_254delinsCC p.L85P Missense 3/17 - 1
3-133472475-TTG-ATC c.253_255delinsATC p.L85I Missense 3/17 - 1
3-133472476-T-A c.254T>A p.L85* Nonsense 3/17 - 1
3-133472477-G-C c.255G>C p.L85F Missense 3/17 - 1
3-133472477-G-T c.255G>T p.L85F Missense 3/17 - 1
3-133472478-GTG-ATC c.256_258delinsATC p.V86I Missense 3/17 - 1
3-133472478-GTG-TTT c.256_258delinsTTT p.V86F Missense 3/17 - 1
3-133472479-T-C c.257T>C p.V86A Missense 3/17 - 3
3-133472483-T-A c.261T>A p.Y87* Nonsense 3/17 - 2
3-133472483-T-G c.261T>G p.Y87* Nonsense 3/17 - 2
3-133472484-G-A c.262G>A p.D88N Missense 3/17 - 1
3-133472484-GA-CG c.262_263delinsCG p.D88R Missense 3/17 - 2
3-133472484-GA-TT c.262_263delinsTT p.D88F Missense 3/17 - 2
3-133472485-A-C c.263A>C p.D88A Missense 3/17 - 3
3-133472485-A-G c.263A>G p.D88G Missense 3/17 - 1
3-133472486-T-C c.264T>C p.D88= Synonymous 3/17 - 3
3-133472487-G-A c.265G>A p.A89T Missense 3/17 - 2
3-133472487-GC-CA c.265_266delinsCA p.A89H Missense 3/17 - 1
3-133472487-GC-TG c.265_266delinsTG p.A89C Missense 3/17 - 6
3-133472487-GC-TT c.265_266delinsTT p.A89F Missense 3/17 - 1
3-133472488-C-A c.266C>A p.A89D Missense 3/17 - 3
3-133472488-C-T c.266C>T p.A89V Missense 3/17 - 3
3-133472488-CT-AG c.266_267inv p.A89E Missense 3/17 - 2
3-133472489-T-A c.267T>A p.A89= Synonymous 3/17 - 6
3-133472489-T-C c.267T>C p.A89= Synonymous 3/17 - 7
3-133472489-T-G c.267T>G p.A89= Synonymous 3/17 - 6
3-133472490-TAC-GAG c.268_270delinsGAG p.Y90E Missense 3/17 - 1
3-133472491-A-G c.269A>G p.Y90C Missense 3/17 - 1
3-133472491-A-T c.269A>T p.Y90F Missense 3/17 - 1
3-133472492-C-A c.270C>A p.Y90* Nonsense 3/17 - 1
3-133472492-C-G c.270C>G p.Y90* Nonsense 3/17 - 1
3-133472492-C-T c.270C>T p.Y90= Synonymous 3/17 - 1
3-133472493-C-G c.271C>G p.L91V Missense 3/17 - 2
3-133472493-C-T c.271C>T p.L91= Synonymous 3/17 - 1
3-133472495-G-A c.273G>A p.L91= Synonymous 3/17 - 1
3-133472496-GC-TG c.274_275delinsTG p.A92C Missense 3/17 - 1
3-133472496-GC-TT c.274_275delinsTT p.A92F Missense 3/17 - 1
3-133472496-GCT-TAA c.274_276delinsTAA p.A92* Nonsense 3/17 - 1
3-133472497-C-A c.275C>A p.A92D Missense 3/17 - 1
3-133472497-C-T c.275C>T p.A92V Missense 3/17 - 3
3-133472497-CT-AG c.275_276inv p.A92E Missense 3/17 - 2
3-133472498-T-A c.276T>A p.A92= Synonymous 3/17 - 2
3-133472498-T-C c.276T>C p.A92= Synonymous 3/17 - 4
3-133472498-T-G c.276T>G p.A92= Synonymous 3/17 - 2
3-133472501-C-T c.279C>T p.P93= Synonymous 3/17 - 1
3-133472502-A-T c.280A>T p.N94Y Missense 3/17 - 1
3-133472503-A-C c.281A>C p.N94T Missense 3/17 - 1
3-133472503-A-G c.281A>G p.N94S Missense 3/17 - 2
3-133472504-T-G c.282T>G p.N94K Missense 3/17 - 1
3-133472505-AA-TG c.283_284delinsTG p.N95C Missense 3/17 - 1
3-133472506-A-G c.284A>G p.N95S Missense 3/17 - 1
3-133472507-C-A c.285C>A p.N95K Missense 3/17 - 1
3-133472507-C-T c.285C>T p.N95= Synonymous 3/17 - 1
3-133472509-T-G c.287T>G p.L96R Missense 3/17 - 1
3-133472511-AA-GC c.289_290delinsGC p.K97A Missense 3/17 - 1
3-133472511-A-G c.289A>G p.K97E Missense 3/17 - 3
3-133472512-A-G c.290A>G p.K97R Missense 3/17 - 1
3-133472513-G-A c.291G>A p.K97= Synonymous 3/17 - 2
3-133472513-G-C c.291G>C p.K97N Missense 3/17 - 2
3-133472513-G-T c.291G>T p.K97N Missense 3/17 - 2
3-133472515-C-T c.293C>T p.P98L Missense 3/17 - 5
3-133472517-G-A c.295G>A p.V99M Missense 3/17 - 1
3-133472517-GTG-ATC c.295_297delinsATC p.V99I Missense 3/17 - 1
3-133472518-T-C c.296T>C p.V99A Missense 3/17 - 3
3-133472520-G-A c.298G>A p.V100M Missense 3/17 - 1
3-133472520-GTG-ATC c.298_300delinsATC p.V100I Missense 3/17 - 1
3-133472520-GTG-TGT c.298_300delinsTGT p.V100C Missense 3/17 - 2
3-133472520-GT-TC c.298_299delinsTC p.V100S Missense 3/17 - 1
3-133472521-T-C c.299T>C p.V100A Missense 3/17 - 1
3-133472521-TG-AC c.299_300delinsAC p.V100D Missense 3/17 - 4
3-133472523-G-C c.301G>C p.A101P Missense 3/17 - 1
3-133472524-C-A c.302C>A p.A101E Missense 3/17 - 1
3-133472524-CA-AC c.302_303delinsAC p.A101D Missense 3/17 - 1
3-133472524-C-G c.302C>G p.A101G Missense 3/17 - 1
3-133472524-C-T c.302C>T p.A101V Missense 3/17 - 1
3-133472525-A-C c.303A>C p.A101= Synonymous 3/17 - 1
3-133472525-A-G c.303A>G p.A101= Synonymous 3/17 - 1
3-133472525-A-T c.303A>T p.A101= Synonymous 3/17 - 1
3-133472526-G-C c.304G>C p.E102Q Missense 3/17 - 3
3-133472527-A-C c.305A>C p.E102A Missense 3/17 - 1
3-133472529-T-C c.307T>C p.F103L Missense 3/17 - 2
3-133472531-C-G c.309C>G p.F103L Missense 3/17 - 2
3-133472530-T-A c.308T>A p.F103Y Missense 3/17 - 1
3-133472531-C-A c.309C>A p.F103L Missense 3/17 - 3
3-133472534-T-A c.312T>A p.Y104* Nonsense 3/17 - 1
3-133472534-T-G c.312T>G p.Y104* Nonsense 3/17 - 1
3-133472536-G-T c.314G>T p.G105V Missense 3/17 - 1
3-133472538-GTCA-G c.316_318del p.S106del InFrameDeletion 3/17 - 1
3-133472538-T-G c.316T>G p.S106A Missense 3/17 - 1
3-133472539-C-A c.317C>A p.S106* Nonsense 3/17 - 2
3-133472539-CA-GT c.317_318delinsGT p.S106C Missense 3/17 - 1
3-133472539-C-G c.317C>G p.S106* Nonsense 3/17 - 3
3-133472541-AA-GC c.319_320delinsGC p.K107A Missense 3/17 - 1
3-133472541-A-G c.319A>G p.K107E Missense 3/17 - 2
3-133472543-A-C c.321A>C p.K107N Missense 3/17 - 1
3-133472543-A-T c.321A>T p.K107N Missense 3/17 - 1
3-133472544-G-A c.322G>A p.E108K Missense 3/17 - 2
3-133472544-G-C c.322G>C p.E108Q Missense 3/17 - 2
3-133472544-G-T c.322G>T p.E108* Nonsense 3/17 - 1
3-133472545-A-C c.323A>C p.E108A Missense 3/17 - 2
3-133472546-G-A c.324G>A p.E108= Synonymous 3/17 - 1
3-133472546-G-T c.324G>T p.E108D Missense 3/17 - 1
3-133472547-G-T c.325G>T p.D109Y Missense 3/17 - 1
3-133472548-G-A c.325+1G>A - IntronicSNV - 3/16 1
3-133472775-C-G c.325+228C>G - IntronicSNV - 3/16 5
3-133472958-G-A c.326-381G>A - IntronicSNV - 3/16 1
3-133473340-T-A c.327T>A p.D109E Missense 4/17 - 1
3-133473340-T-G c.327T>G p.D109E Missense 4/17 - 2
3-133473341-CCA-GAC c.328_330delinsGAC p.P110D Missense 4/17 - 12
3-133473341-CCA-TGT c.328_330delinsTGT p.P110C Missense 4/17 - 3
3-133473341-CC-GG c.328_329inv p.P110G Missense 4/17 - 6
3-133473341-C-G c.328C>G p.P110A Missense 4/17 - 22
3-133473341-C-T c.328C>T p.P110S Missense 4/17 - 6
3-133473342-C-T c.329C>T p.P110L Missense 4/17 - 1
3-133473343-A-AG c.330_331insG p.Q111Afs*14 Frameshift 4/17 - 1
3-133473344-C-A c.331C>A p.Q111K Missense 4/17 - 1
3-133473344-CA-AC c.331_332delinsAC p.Q111T Missense 4/17 - 1
3-133473344-CA-GT c.331_332delinsGT p.Q111V Missense 4/17 - 1
3-133473345-A-T c.332A>T p.Q111L Missense 4/17 - 1
3-133473346-G-A c.333G>A p.Q111= Synonymous 4/17 - 2
3-133473346-G-C c.333G>C p.Q111H Missense 4/17 - 1
3-133473346-G-T c.333G>T p.Q111H Missense 4/17 - 1
3-133473347-A-C c.334A>C p.T112P Missense 4/17 - 1
3-133473347-AC-GT c.334_335inv p.T112V Missense 4/17 - 1
3-133473347-ACT-CAA c.334_336delinsCAA p.T112Q Missense 4/17 - 1
3-133473347-AC-TG c.334_335delinsTG p.T112C Missense 4/17 - 1
3-133473347-A-G c.334A>G p.T112A Missense 4/17 - 4
3-133473348-C-T c.335C>T p.T112I Missense 4/17 - 4
3-133473350-T-C c.337T>C p.F113L Missense 4/17 - 5
3-133473352-C-A c.339C>A p.F113L Missense 4/17 - 5
3-133473352-C-G c.339C>G p.F113L Missense 4/17 - 4
3-133473351-T-C c.338T>C p.F113S Missense 4/17 - 1
3-133473353-T-C c.340T>C p.Y114H Missense 4/17 - 3
3-133473354-A-T c.341A>T p.Y114F Missense 4/17 - 1
3-133473357-A-T c.344A>T p.Y115F Missense 4/17 - 19
3-133473359-G-A c.346G>A p.A116T Missense 4/17 - 1
3-133473359-GC-CA c.346_347delinsCA p.A116H Missense 4/17 - 1
3-133473359-GC-TG c.346_347delinsTG p.A116C Missense 4/17 - 2
3-133473360-C-T c.347C>T p.A116V Missense 4/17 - 1
3-133473362-G-C c.349G>C p.V117L Missense 4/17 - 1
3-133473362-GT-CC c.349_350delinsCC p.V117P Missense 4/17 - 1
3-133473363-T-C c.350T>C p.V117A Missense 4/17 - 2
3-133473365-G-A c.352G>A p.A118T Missense 4/17 - 4
3-133473365-GC-CG c.352_353delinsCG p.A118R Missense 4/17 - 1
3-133473365-G-T c.352G>T p.A118S Missense 4/17 - 1
3-133473366-C-G c.353C>G p.A118G Missense 4/17 - 22
3-133473366-C-T c.353C>T p.A118V Missense 4/17 - 2
3-133473366-CT-AG c.353_354inv p.A118E Missense 4/17 - 1
3-133473368-G-A c.355G>A p.V119M Missense 4/17 - 1
3-133473368-GTG-ATC c.355_357delinsATC p.V119I Missense 4/17 - 1
3-133473368-GTG-TGT c.355_357delinsTGT p.V119C Missense 4/17 - 2
3-133473369-T-C c.356T>C p.V119A Missense 4/17 - 1
3-133473370-G-A c.357G>A p.V119= Synonymous 4/17 - 1
3-133473371-G-A c.358G>A p.V120M Missense 4/17 - 2
3-133473373-G-A c.360G>A p.V120= Synonymous 4/17 - 2
3-133473373-G-C c.360G>C p.V120= Synonymous 4/17 - 1
3-133473373-G-T c.360G>T p.V120= Synonymous 4/17 - 1
3-133473374-AA-GC c.361_362delinsGC p.K121A Missense 4/17 - 1
3-133473374-A-C c.361A>C p.K121Q Missense 4/17 - 3
3-133473374-A-G c.361A>G p.K121E Missense 4/17 - 1
3-133473376-G-A c.363G>A p.K121= Synonymous 4/17 - 1
3-133473377-AA-GC c.364_365delinsGC p.K122A Missense 4/17 - 3
3-133473377-AAG-TGT c.364_366delinsTGT p.K122C Missense 4/17 - 1
3-133473377-A-G c.364A>G p.K122E Missense 4/17 - 1
3-133473378-A-G c.365A>G p.K122R Missense 4/17 - 1
3-133473380-GA-AG c.367_368delinsAG p.D123S Missense 4/17 - 1
3-133473380-G-T c.367G>T p.D123Y Missense 4/17 - 1
3-133473381-A-C c.368A>C p.D123A Missense 4/17 - 1
3-133473381-A-G c.368A>G p.D123G Missense 4/17 - 2
3-133473382-T-A c.369T>A p.D123E Missense 4/17 - 2
3-133473382-T-G c.369T>G p.D123E Missense 4/17 - 2
3-133473384-G-A c.371G>A p.S124N Missense 4/17 - 1
3-133473386-G-A c.373G>A p.G125S Missense 4/17 - 2
3-133473386-G-C c.373G>C p.G125R Missense 4/17 - 2
3-133473386-GG-AC c.373_374delinsAC p.G125T Missense 4/17 - 1
3-133473387-G-A c.374G>A p.G125D Missense 4/17 - 2
3-133473388-C-T c.375C>T p.G125= Synonymous 4/17 - 2
3-133473389-T-C c.376T>C p.F126L Missense 4/17 - 2
3-133473389-TT-AC c.376_377delinsAC p.F126T Missense 4/17 - 1
3-133473391-C-A c.378C>A p.F126L Missense 4/17 - 2
3-133473391-C-G c.378C>G p.F126L Missense 4/17 - 2
3-133473393-A-G c.380A>G p.Q127R Missense 4/17 - 2
3-133473393-A-T c.380A>T p.Q127L Missense 4/17 - 1
3-133473394-G-A c.381G>A p.Q127= Synonymous 4/17 - 1
3-133473395-A-G c.382A>G p.M128V Missense 4/17 - 2
3-133473395-AT-CC c.382_383delinsCC p.M128P Missense 4/17 - 1
3-133473396-T-C c.383T>C p.M128T Missense 4/17 - 1
3-133473398-AA-GC c.385_386delinsGC p.N129A Missense 4/17 - 1
3-133473398-A-G c.385A>G p.N129D Missense 4/17 - 1
3-133473400-C-A c.387C>A p.N129K Missense 4/17 - 5
3-133473400-C-G c.387C>G p.N129K Missense 4/17 - 3
3-133473401-C-T c.388C>T p.Q130* Nonsense 4/17 - 1
3-133473404-C-A c.391C>A p.L131I Missense 4/17 - 1
3-133473404-C-G c.391C>G p.L131V Missense 4/17 - 1
3-133473404-C-T c.391C>T p.L131F Missense 4/17 - 1
3-133473405-T-C c.392T>C p.L131P Missense 4/17 - 1
3-133473407-CG-AA c.394_395delinsAA p.R132K Missense 4/17 - 1
3-133473407-CG-AC c.394_395delinsAC p.R132T Missense 4/17 - 1
3-133473407-CG-AT c.394_395delinsAT p.R132I Missense 4/17 - 1
3-133473407-CGA-TGG c.394_396delinsTGG p.R132W Missense 4/17 - 1
3-133473407-C-T c.394C>T p.R132* Nonsense 4/17 - 10
3-133473408-G-A c.395G>A p.R132Q Missense 4/17 - 4
3-133473408-GA-AT c.395_396delinsAT p.R132H Missense 4/17 - 19
3-133473408-G-C c.395G>C p.R132P Missense 4/17 - 2
3-133473408-G-T c.395G>T p.R132L Missense 4/17 - 1
3-133473409-AG-A c.398del p.G133Afs*9 Frameshift 4/17 - 1
3-133473411-G-C c.398G>C p.G133A Missense 4/17 - 1
3-133473412-C-A c.399C>A p.G133= Synonymous 4/17 - 1
3-133473412-C-G c.399C>G p.G133= Synonymous 4/17 - 1
3-133473412-C-T c.399C>T p.G133= Synonymous 4/17 - 1
3-133473413-AAG-CAT c.400_402delinsCAT p.K134H Missense 4/17 - 1
3-133473413-A-G c.400A>G p.K134E Missense 4/17 - 1
3-133473414-A-C c.401A>C p.K134T Missense 4/17 - 1
3-133473414-A-G c.401A>G p.K134R Missense 4/17 - 2
3-133473416-AA-CT c.403_404delinsCT p.K135L Missense 4/17 - 1
3-133473416-AA-GC c.403_404delinsGC p.K135A Missense 4/17 - 1
3-133473417-A-G c.404A>G p.K135R Missense 4/17 - 1
3-133473419-TC-AA c.406_407delinsAA p.S136N Missense 4/17 - 1
3-133473419-T-G c.406T>G p.S136A Missense 4/17 - 1
3-133473420-C-G c.407C>G p.S136C Missense 4/17 - 1
3-133473420-C-T c.407C>T p.S136F Missense 4/17 - 1
3-133473421-C-T c.408C>T p.S136= Synonymous 4/17 - 1
3-133473422-T-C c.409T>C p.C137R Missense 4/17 - 2
3-133473422-TG-GC c.409_410delinsGC p.C137A Missense 4/17 - 1
3-133473423-G-T c.410G>T p.C137F Missense 4/17 - 1
3-133473425-CA-GC c.412_413delinsGC p.H138A Missense 4/17 - 1
3-133473425-C-G c.412C>G p.H138D Missense 4/17 - 1
3-133473426-A-C c.413A>C p.H138P Missense 4/17 - 1
3-133473427-ACACGGG-A c.414_419del p.T139_G140del InFrameDeletion 4/17 - 1
3-133473427-C-T c.414C>T p.H138= Synonymous 4/17 - 1
3-133473428-ACG-TGT c.415_417delinsTGT p.T139C Missense 4/17 - 2
3-133473428-A-G c.415A>G p.T139A Missense 4/17 - 1
3-133473429-C-A c.416C>A p.T139K Missense 4/17 - 1
3-133473429-CG-AC c.416_417delinsAC p.T139N Missense 4/17 - 1
3-133473429-CG-TC c.416_417delinsTC p.T139I Missense 4/17 - 1
3-133473431-G-A c.418G>A p.G140S Missense 4/17 - 9
3-133473431-G-C c.418G>C p.G140R Missense 4/17 - 2
3-133473431-G-T c.418G>T p.G140C Missense 4/17 - 3
3-133473432-G-C c.419G>C p.G140A Missense 4/17 - 5
3-133473433-T-A c.420T>A p.G140= Synonymous 4/17 - 1
3-133473433-T-C c.420T>C p.G140= Synonymous 4/17 - 1
3-133473433-T-G c.420T>G p.G140= Synonymous 4/17 - 1
3-133473434-C-G c.421C>G p.L141V Missense 4/17 - 1
3-133473435-T-C c.422T>C p.L141P Missense 4/17 - 1
3-133473434-C-T c.421C>T p.L141= Synonymous 4/17 - 1
3-133473436-A-C c.423A>C p.L141= Synonymous 4/17 - 1
3-133473436-A-G c.423A>G p.L141= Synonymous 4/17 - 1
3-133473436-A-T c.423A>T p.L141= Synonymous 4/17 - 1
3-133473437-AGGC-A c.424_426del p.G142del InFrameDeletion 4/17 - 1
3-133473437-G-A c.424G>A p.G142S Missense 4/17 - 13
3-133473438-G-A c.425G>A p.G142D Missense 4/17 - 10
3-133473439-C-A c.426C>A p.G142= Synonymous 4/17 - 1
3-133473439-C-G c.426C>G p.G142= Synonymous 4/17 - 1
3-133473439-C-T c.426C>T p.G142= Synonymous 4/17 - 1
3-133473440-AG-CT c.427_428inv p.R143L Missense 4/17 - 1
3-133473440-AG-GC c.427_428delinsGC p.R143A Missense 4/17 - 4
3-133473440-AGG-TGT c.427_429delinsTGT p.R143C Missense 4/17 - 1
3-133473440-A-T c.427A>T p.R143W Missense 4/17 - 1
3-133473441-G-C c.428G>C p.R143T Missense 4/17 - 1
3-133473443-T-C c.430T>C p.S144P Missense 4/17 - 1
3-133473444-C-G c.431C>G p.S144C Missense 4/17 - 1
3-133473445-C-A c.432C>A p.S144= Synonymous 4/17 - 2
3-133473445-C-G c.432C>G p.S144= Synonymous 4/17 - 2
3-133473445-C-T c.432C>T p.S144= Synonymous 4/17 - 4
3-133473446-G-A c.433G>A p.A145T Missense 4/17 - 1
3-133473446-GCT-TAA c.433_435delinsTAA p.A145* Nonsense 4/17 - 1
3-133473447-C-A c.434C>A p.A145D Missense 4/17 - 1
3-133473448-T-C c.435T>C p.A145= Synonymous 4/17 - 1
3-133473449-GGG-AGC c.436_438delinsAGC p.G146S Missense 4/17 - 2
3-133473449-G-T c.436G>T p.G146W Missense 4/17 - 2
3-133473450-GG-AC c.437_438delinsAC p.G146D Missense 4/17 - 1
3-133473450-G-T c.437G>T p.G146V Missense 4/17 - 1
3-133473448-T-TG c.438dup p.W147Vfs*11 Frameshift 4/17 - 1
3-133473451-G-C c.438G>C p.G146= Synonymous 4/17 - 1
3-133473452-T-A c.439T>A p.W147R Missense 4/17 - 1
3-133473452-T-C c.439T>C p.W147R Missense 4/17 - 2
3-133473453-G-A c.440G>A p.W147* Nonsense 4/17 - 2
3-133473453-G-T c.440G>T p.W147L Missense 4/17 - 1
3-133473454-G-A c.441G>A p.W147* Nonsense 4/17 - 2
3-133473454-G-C c.441G>C p.W147C Missense 4/17 - 2
3-133473456-A-T c.443A>T p.N148I Missense 4/17 - 1
3-133473458-A-T c.445A>T p.I149F Missense 4/17 - 4
3-133473458-AT-GC c.445_446delinsGC p.I149A Missense 4/17 - 1
3-133473459-T-C c.446T>C p.I149T Missense 4/17 - 1
3-133473459-T-G c.446T>G p.I149S Missense 4/17 - 1
3-133473460-C-T c.447C>T p.I149= Synonymous 4/17 - 1
3-133473461-CC-TG c.448_449delinsTG p.P150C Missense 4/17 - 1
3-133473461-CC-TT c.448_449delinsTT p.P150F Missense 4/17 - 1
3-133473461-C-T c.448C>T p.P150S Missense 4/17 - 2
3-133473459-TCC-T c.449_450del p.P150Hfs*7 Frameshift 4/17 - 1
3-133473462-C-A c.449C>A p.P150H Missense 4/17 - 1
3-133473462-C-T c.449C>T p.P150L Missense 4/17 - 3
3-133473463-C-A c.450C>A p.P150= Synonymous 4/17 - 1
3-133473463-C-G c.450C>G p.P150= Synonymous 4/17 - 1
3-133473463-C-T c.450C>T p.P150= Synonymous 4/17 - 1
3-133473464-A-C c.451A>C p.I151L Missense 4/17 - 2
3-133473464-A-G c.451A>G p.I151V Missense 4/17 - 1
3-133473464-A-T c.451A>T p.I151L Missense 4/17 - 2
3-133473464-ATA-TAT c.451_453inv p.I151Y Missense 4/17 - 1
3-133473465-TA-GC c.452_453delinsGC p.I151S Missense 4/17 - 1
3-133473465-T-C c.452T>C p.I151T Missense 4/17 - 4
3-133473467-G-A c.454G>A p.G152S Missense 4/17 - 3
3-133473467-G-T c.454G>T p.G152C Missense 4/17 - 1
3-133473468-G-A c.455G>A p.G152D Missense 4/17 - 1
3-133473468-G-C c.455G>C p.G152A Missense 4/17 - 2
3-133473468-GC-AG c.455_456delinsAG p.G152E Missense 4/17 - 1
3-133473470-TTA-AAC c.457_459delinsAAC p.L153N Missense 4/17 - 1
3-133473470-TT-GA c.457_458delinsGA p.L153E Missense 4/17 - 1
3-133473471-T-C c.458T>C p.L153S Missense 4/17 - 1
3-133473473-C-A c.460C>A p.L154I Missense 4/17 - 1
3-133473473-CT-GC c.460_461delinsGC p.L154A Missense 4/17 - 2
3-133473477-A-C c.464A>C p.Y155S Missense 4/17 - 1
3-133473479-T-C c.466T>C p.C156R Missense 4/17 - 2
3-133473480-G-T c.467G>T p.C156F Missense 4/17 - 1
3-133473481-T-C c.468T>C p.C156= Synonymous 4/17 - 2
3-133473482-G-A c.469G>A p.D157N Missense 4/17 - 1
3-133473482-G-C c.469G>C p.D157H Missense 4/17 - 1
3-133473482-G-T c.469G>T p.D157Y Missense 4/17 - 2
3-133473483-A-G c.470A>G p.D157G Missense 4/17 - 1
3-133473484-C-G c.471C>G p.D157E Missense 4/17 - 1
3-133473485-T-C c.472T>C p.L158= Synonymous 4/17 - 1
3-133473485-T-G c.472T>G p.L158V Missense 4/17 - 2
3-133473485-TT-CC c.472_473delinsCC p.L158P Missense 4/17 - 2
3-133473487-A-G c.474A>G p.L158= Synonymous 4/17 - 1
3-133473488-C-T c.475C>T p.P159S Missense 4/17 - 1
3-133473489-C-A c.476C>A p.P159H Missense 4/17 - 1
3-133473491-G-A c.478G>A p.E160K Missense 4/17 - 1
3-133473491-GAG-TAT c.478_480delinsTAT p.E160Y Missense 4/17 - 1
3-133473491-GA-TG c.478_479delinsTG p.E160W Missense 4/17 - 1
3-133473492-A-C c.479A>C p.E160A Missense 4/17 - 1
3-133473492-A-G c.479A>G p.E160G Missense 4/17 - 1
3-133473493-G-A c.480G>A p.E160= Synonymous 4/17 - 1
3-133473493-G-C c.480G>C p.E160D Missense 4/17 - 1
3-133473493-G-T c.480G>T p.E160D Missense 4/17 - 1
3-133473494-C-G c.481C>G p.P161A Missense 4/17 - 1
3-133473495-C-G c.482C>G p.P161R Missense 4/17 - 1
3-133473497-CGT-TGG c.484_486delinsTGG p.R162W Missense 4/17 - 3
3-133473497-C-T c.484C>T p.R162C Missense 4/17 - 1
3-133473498-G-C c.485G>C p.R162P Missense 4/17 - 1
3-133473498-G-T c.485G>T p.R162L Missense 4/17 - 1
3-133473498-GT-AA c.485_486delinsAA p.R162Q Missense 4/17 - 1
3-133473500-AAA-GAC c.487_489delinsGAC p.K163D Missense 4/17 - 1
3-133473502-A-C c.489A>C p.K163N Missense 4/17 - 1
3-133473502-A-T c.489A>T p.K163N Missense 4/17 - 1
3-133473503-C-T c.490C>T p.P164S Missense 4/17 - 2
3-133473504-C-A c.491C>A p.P164H Missense 4/17 - 1
3-133473504-C-G c.491C>G p.P164R Missense 4/17 - 1
3-133473504-C-T c.491C>T p.P164L Missense 4/17 - 2
3-133473506-C-G c.493C>G p.L165V Missense 4/17 - 6
3-133473506-C-T c.493C>T p.L165F Missense 4/17 - 3
3-133473506-CT-GC c.493_494delinsGC p.L165A Missense 4/17 - 1
3-133473507-T-C c.494T>C p.L165P Missense 4/17 - 1
3-133473509-G-A c.496G>A p.E166K Missense 4/17 - 2
3-133473509-GA-TC c.496_497inv p.E166S Missense 4/17 - 1
3-133473510-A-C c.497A>C p.E166A Missense 4/17 - 3
3-133473511-G-A c.498G>A p.E166= Synonymous 4/17 - 1
3-133473511-G-C c.498G>C p.E166D Missense 4/17 - 1
3-133473511-G-T c.498G>T p.E166D Missense 4/17 - 1
3-133473512-AA-GC c.499_500delinsGC p.K167A Missense 4/17 - 3
3-133473512-A-C c.499A>C p.K167Q Missense 4/17 - 1
3-133473512-A-G c.499A>G p.K167E Missense 4/17 - 1
3-133473513-A-C c.500A>C p.K167T Missense 4/17 - 1
3-133473513-A-G c.500A>G p.K167R Missense 4/17 - 3
3-133473515-G-A c.502G>A p.A168T Missense 4/17 - 2
3-133473625-G-T c.502+110G>T - IntronicSNV - 4/16 1
3-133473643-G-A c.502+128G>A - IntronicSNV - 4/16 1
3-133473742-G-C c.502+227G>C - IntronicSNV - 4/16 1
3-133474003-C-G c.503-204C>G - IntronicSNV - 4/16 1
3-133474147-T-G c.503-60T>G - IntronicSNV - 4/16 1
3-133474207-C-G c.503C>G p.A168G Missense 5/17 - 1
3-133474207-C-T c.503C>T p.A168V Missense 5/17 - 1
3-133474209-G-A c.505G>A p.V169M Missense 5/17 - 1
3-133474212-G-A c.508G>A p.A170T Missense 5/17 - 1
3-133474214-C-T c.510C>T p.A170= Synonymous 5/17 - 1
3-133474215-A-G c.511A>G p.N171D Missense 5/17 - 1
3-133474217-T-A c.513T>A p.N171K Missense 5/17 - 2
3-133474217-T-G c.513T>G p.N171K Missense 5/17 - 2
3-133474218-T-A c.514T>A p.F172I Missense 5/17 - 1
3-133474221-T-C c.517T>C p.F173L Missense 5/17 - 1
3-133474223-C-A c.519C>A p.F173L Missense 5/17 - 2
3-133474223-C-G c.519C>G p.F173L Missense 5/17 - 1
3-133474224-TC-GA c.520_521inv p.S174E Missense 5/17 - 1
3-133474224-T-G c.520T>G p.S174A Missense 5/17 - 3
3-133474225-C-A c.521C>A p.S174* Nonsense 5/17 - 1
3-133474225-CG-GT c.521_522delinsGT p.S174C Missense 5/17 - 1
3-133474225-C-T c.521C>T p.S174L Missense 5/17 - 11
3-133474227-G-T c.523G>T p.G175C Missense 5/17 - 1
3-133474228-G-C c.524G>C p.G175A Missense 5/17 - 1
3-133474228-G-T c.524G>T p.G175V Missense 5/17 - 1
3-133474230-AGC-TGG c.526_528delinsTGG p.S176W Missense 5/17 - 1
3-133474230-A-T c.526A>T p.S176C Missense 5/17 - 1
3-133474231-G-A c.527G>A p.S176N Missense 5/17 - 1
3-133474233-CTGT-C c.529_531del p.C177del InFrameDeletion 5/17 - 3
3-133474235-T-C c.531T>C p.C177= Synonymous 5/17 - 1
3-133474236-G-A c.532G>A p.A178T Missense 5/17 - 2
3-133474237-C-T c.533C>T p.A178V Missense 5/17 - 1
3-133474239-C-T c.535C>T p.P179S Missense 5/17 - 2
3-133474240-C-G c.536C>G p.P179R Missense 5/17 - 2
3-133474242-T-A c.538T>A p.C180S Missense 5/17 - 2
3-133474242-T-G c.538T>G p.C180G Missense 5/17 - 1
3-133474242-TG-AC c.538_539delinsAC p.C180T Missense 5/17 - 1
3-133474243-G-C c.539G>C p.C180S Missense 5/17 - 2
3-133474244-T-A c.540T>A p.C180* Nonsense 5/17 - 1
3-133474245-GCG-TGT c.541_543delinsTGT p.A181C Missense 5/17 - 1
3-133474246-C-T c.542C>T p.A181V Missense 5/17 - 1
3-133474248-G-A c.544G>A p.D182N Missense 5/17 - 2
3-133474248-G-T c.544G>T p.D182Y Missense 5/17 - 1
3-133474251-GGG-TGT c.547_549delinsTGT p.G183C Missense 5/17 - 1
3-133474252-G-C c.548G>C p.G183A Missense 5/17 - 1
3-133474253-G-A c.549G>A p.G183= Synonymous 5/17 - 2
3-133474254-ACG-TGT c.550_552delinsTGT p.T184C Missense 5/17 - 1
3-133474254-A-G c.550A>G p.T184A Missense 5/17 - 2
3-133474255-CG-AC c.551_552delinsAC p.T184N Missense 5/17 - 1
3-133474256-G-A c.552G>A p.T184= Synonymous 5/17 - 4
3-133474256-G-C c.552G>C p.T184= Synonymous 5/17 - 1
3-133474256-G-GT c.552_553insT p.D185* Nonsense 5/17 - 1
3-133474256-G-T c.552G>T p.T184= Synonymous 5/17 - 1
3-133474257-G-A c.553G>A p.D185N Missense 5/17 - 3
3-133474257-GAC-AAG c.553_555delinsAAG p.D185K Missense 5/17 - 1
3-133474257-GGAC-G c.553_555del p.D185del InFrameDeletion 5/17 - 1
3-133474258-A-C c.554A>C p.D185A Missense 5/17 - 1
3-133474258-A-T c.554A>T p.D185V Missense 5/17 - 1
3-133474262-C-G c.558C>G p.F186L Missense 5/17 - 2
3-133474262-C-T c.558C>T p.F186= Synonymous 5/17 - 3
3-133474263-C-G c.559C>G p.P187A Missense 5/17 - 1
3-133474263-C-T c.559C>T p.P187S Missense 5/17 - 1
3-133474264-CC-AA c.560_561delinsAA p.P187Q Missense 5/17 - 1
3-133474264-C-T c.560C>T p.P187L Missense 5/17 - 2
3-133474269-C-A c.565C>A p.L189M Missense 5/17 - 1
3-133474269-C-G c.565C>G p.L189V Missense 5/17 - 1
3-133474270-T-G c.566T>G p.L189R Missense 5/17 - 1
3-133474269-C-T c.565C>T p.L189= Synonymous 5/17 - 1
3-133474271-G-A c.567G>A p.L189= Synonymous 5/17 - 1
3-133474271-G-C c.567G>C p.L189= Synonymous 5/17 - 1
3-133474271-G-T c.567G>T p.L189= Synonymous 5/17 - 1
3-133474272-T-A c.568T>A p.C190S Missense 5/17 - 2
3-133474272-T-C c.568T>C p.C190R Missense 5/17 - 2
3-133474272-T-G c.568T>G p.C190G Missense 5/17 - 1
3-133474272-TG-GC c.568_569delinsGC p.C190A Missense 5/17 - 2
3-133474273-G-C c.569G>C p.C190S Missense 5/17 - 2
3-133474273-G-T c.569G>T p.C190F Missense 5/17 - 1
3-133474278-C-G c.574C>G p.L192V Missense 5/17 - 1
3-133474278-CTG-ATC c.574_576delinsATC p.L192I Missense 5/17 - 1
3-133474281-T-A c.577T>A p.C193S Missense 5/17 - 13
3-133474281-TG-AC c.577_578delinsAC p.C193T Missense 5/17 - 2
3-133474281-TG-GC c.577_578delinsGC p.C193A Missense 5/17 - 2
3-133474281-TGT-AAG c.577_579delinsAAG p.C193K Missense 5/17 - 1
3-133474282-G-C c.578G>C p.C193S Missense 5/17 - 13
3-133474282-G-T c.578G>T p.C193F Missense 5/17 - 1
3-133474284-C-T c.580C>T p.P194S Missense 5/17 - 3
3-133474285-C-A c.581C>A p.P194Q Missense 5/17 - 1
3-133474285-C-T c.581C>T p.P194L Missense 5/17 - 2
3-133474286-A-C c.582A>C p.P194= Synonymous 5/17 - 1
3-133474286-A-G c.582A>G p.P194= Synonymous 5/17 - 2
3-133474286-A-T c.582A>T p.P194= Synonymous 5/17 - 1
3-133474287-G-A c.583G>A p.G195R Missense 5/17 - 1
3-133474288-G-C c.584G>C p.G195A Missense 5/17 - 2
3-133474289-G-A c.585G>A p.G195= Synonymous 5/17 - 2
3-133474289-G-C c.585G>C p.G195= Synonymous 5/17 - 1
3-133474289-G-T c.585G>T p.G195= Synonymous 5/17 - 2
3-133474290-T-A c.586T>A p.C196S Missense 5/17 - 1
3-133474290-TG-GC c.586_587delinsGC p.C196A Missense 5/17 - 2
3-133474291-G-C c.587G>C p.C196S Missense 5/17 - 1
3-133474294-G-C c.590G>C p.G197A Missense 5/17 - 1
3-133474294-GC-AG c.590_591delinsAG p.G197E Missense 5/17 - 1
3-133474294-G-T c.590G>T p.G197V Missense 5/17 - 1
3-133474295-C-A c.591C>A p.G197= Synonymous 5/17 - 1
3-133474295-C-G c.591C>G p.G197= Synonymous 5/17 - 1
3-133474295-C-T c.591C>T p.G197= Synonymous 5/17 - 1
3-133474296-T-C c.592T>C p.C198R Missense 5/17 - 1
3-133474296-T-G c.592T>G p.C198G Missense 5/17 - 1
3-133474296-TG-AC c.592_593delinsAC p.C198T Missense 5/17 - 1
3-133474296-TG-GC c.592_593delinsGC p.C198A Missense 5/17 - 1
3-133474297-G-T c.593G>T p.C198F Missense 5/17 - 1
3-133474299-T-C c.595T>C p.S199P Missense 5/17 - 1
3-133474299-TC-GA c.595_596inv p.S199D Missense 5/17 - 1
3-133474299-TC-GG c.595_596delinsGG p.S199G Missense 5/17 - 1
3-133474300-C-G c.596C>G p.S199C Missense 5/17 - 1
3-133474301-C-G c.597C>G p.S199= Synonymous 5/17 - 1
3-133474301-C-T c.597C>T p.S199= Synonymous 5/17 - 1
3-133474302-A-C c.598A>C p.T200P Missense 5/17 - 1
3-133474303-C-T c.599C>T p.T200I Missense 5/17 - 1
3-133474305-C-A c.601C>A p.L201I Missense 5/17 - 1
3-133474305-C-T c.601C>T p.L201F Missense 5/17 - 1
3-133474305-CTT-GAG c.601_603delinsGAG p.L201E Missense 5/17 - 1
3-133474306-T-A c.602T>A p.L201H Missense 5/17 - 1
3-133474306-T-C c.602T>C p.L201P Missense 5/17 - 1
3-133474306-T-G c.602T>G p.L201R Missense 5/17 - 1
3-133474309-A-T c.605A>T p.N202I Missense 5/17 - 1
3-133474310-C-G c.606C>G p.N202K Missense 5/17 - 1
3-133474311-CAA-TGG c.607_609delinsTGG p.Q203W Missense 5/17 - 1
3-133474311-C-T c.607C>T p.Q203* Nonsense 5/17 - 3
3-133474312-A-G c.608A>G p.Q203R Missense 5/17 - 1
3-133474311-C-CA c.609dup p.Y204Ifs*28 Frameshift 5/17 - 1
3-133474313-A-G c.609A>G p.Q203= Synonymous 5/17 - 1
3-133474314-T-A c.610T>A p.Y204N Missense 5/17 - 1
3-133474315-A-G c.611A>G p.Y204C Missense 5/17 - 1
3-133474315-A-T c.611A>T p.Y204F Missense 5/17 - 4
3-133474317-T-C c.613T>C p.F205L Missense 5/17 - 1
3-133474319-C-A c.615C>A p.F205L Missense 5/17 - 1
3-133474319-C-G c.615C>G p.F205L Missense 5/17 - 1
3-133474320-G-A c.616G>A p.G206S Missense 5/17 - 2
3-133474320-G-C c.616G>C p.G206R Missense 5/17 - 1
3-133474321-G-A c.617G>A p.G206D Missense 5/17 - 1
3-133474321-G-C c.617G>C p.G206A Missense 5/17 - 1
3-133474321-GC-AG c.617_618delinsAG p.G206E Missense 5/17 - 1
3-133474323-T-C c.619T>C p.Y207H Missense 5/17 - 1
3-133474327-C-T c.623C>T p.S208L Missense 5/17 - 5
3-133474328-G-A c.624G>A p.S208= Synonymous 5/17 - 17
3-133474328-G-C c.624G>C p.S208= Synonymous 5/17 - 11
3-133474328-G-T c.624G>T p.S208= Synonymous 5/17 - 1
3-133474330-G-C c.626G>C p.G209A Missense 5/17 - 4
3-133474332-G-C c.628G>C p.A210P Missense 5/17 - 1
3-133474333-C-G c.629C>G p.A210G Missense 5/17 - 2
3-133474333-C-T c.629C>T p.A210V Missense 5/17 - 3
3-133474335-T-A c.631T>A p.F211I Missense 5/17 - 2
3-133474339-A-C c.635A>C p.K212T Missense 5/17 - 1
3-133474339-A-G c.635A>G p.K212R Missense 5/17 - 2
3-133474344-G-C c.635+5G>C - IntronicSNV - 5/16 1
3-133474352-T-A c.635+13T>A - IntronicSNV - 5/16 1
3-133474378-C-A c.635+39C>A - IntronicSNV - 5/16 1
3-133474554-G-A c.635+215G>A - IntronicSNV - 5/16 1
3-133475127-T-C c.637T>C p.C213R Missense 6/17 - 2
3-133475127-T-G c.637T>G p.C213G Missense 6/17 - 2
3-133475127-TG-GC c.637_638delinsGC p.C213A Missense 6/17 - 1
3-133475128-G-A c.638G>A p.C213Y Missense 6/17 - 1
3-133475130-C-G c.640C>G p.L214V Missense 6/17 - 2
3-133475130-CTG-TTT c.640_642delinsTTT p.L214F Missense 6/17 - 1
3-133475131-T-C c.641T>C p.L214P Missense 6/17 - 1
3-133475130-C-T c.640C>T p.L214= Synonymous 6/17 - 1
3-133475132-G-A c.642G>A p.L214= Synonymous 6/17 - 1
3-133475132-G-C c.642G>C p.L214= Synonymous 6/17 - 1
3-133475132-G-T c.642G>T p.L214= Synonymous 6/17 - 1
3-133475132-TG-T c.642del p.K215Rfs*40 Frameshift 6/17 - 1
3-133475133-A-C c.643A>C p.K215Q Missense 6/17 - 1
3-133475134-A-G c.644A>G p.K215R Missense 6/17 - 1
3-133475136-G-A c.646G>A p.D216N Missense 6/17 - 2
3-133475136-G-T c.646G>T p.D216Y Missense 6/17 - 2
3-133475139-G-T c.649G>T p.G217C Missense 6/17 - 1
3-133475140-G-C c.650G>C p.G217A Missense 6/17 - 1
3-133475142-GC-TG c.652_653delinsTG p.A218C Missense 6/17 - 2
3-133475142-G-T c.652G>T p.A218S Missense 6/17 - 1
3-133475143-C-A c.653C>A p.A218D Missense 6/17 - 1
3-133475143-C-G c.653C>G p.A218G Missense 6/17 - 1
3-133475145-GGG-AGC c.655_657delinsAGC p.G219S Missense 6/17 - 1
3-133475146-GG-AC c.656_657delinsAC p.G219D Missense 6/17 - 1
3-133475148-G-A c.658G>A p.D220N Missense 6/17 - 1
3-133475148-G-T c.658G>T p.D220Y Missense 6/17 - 2
3-133475149-A-G c.659A>G p.D220G Missense 6/17 - 1
3-133475151-G-A c.661G>A p.V221M Missense 6/17 - 1
3-133475152-T-G c.662T>G p.V221G Missense 6/17 - 2
3-133475153-G-A c.663G>A p.V221= Synonymous 6/17 - 1
3-133475154-G-A c.664G>A p.A222T Missense 6/17 - 1
3-133475154-G-T c.664G>T p.A222S Missense 6/17 - 1
3-133475155-C-G c.665C>G p.A222G Missense 6/17 - 2
3-133475155-C-T c.665C>T p.A222V Missense 6/17 - 8
3-133475156-C-T c.666C>T p.A222= Synonymous 6/17 - 1
3-133475157-T-C c.667T>C p.F223L Missense 6/17 - 1
3-133475157-TT-CG c.667_668delinsCG p.F223R Missense 6/17 - 1
3-133475159-T-A c.669T>A p.F223L Missense 6/17 - 1
3-133475159-T-G c.669T>G p.F223L Missense 6/17 - 1
3-133475160-G-A c.670G>A p.V224I Missense 6/17 - 1
3-133475161-T-C c.671T>C p.V224A Missense 6/17 - 1
3-133475161-T-G c.671T>G p.V224G Missense 6/17 - 1
3-133475162-TC-T c.672del p.K225Sfs*30 Frameshift 6/17 - 1
3-133475163-A-C c.673A>C p.K225Q Missense 6/17 - 1
3-133475163-A-G c.673A>G p.K225E Missense 6/17 - 1
3-133475164-A-G c.674A>G p.K225R Missense 6/17 - 1
3-133475165-G-A c.675G>A p.K225= Synonymous 6/17 - 1
3-133475166-CAC-GAG c.676_678delinsGAG p.H226E Missense 6/17 - 1
3-133475166-CA-GC c.676_677delinsGC p.H226A Missense 6/17 - 1
3-133475166-C-T c.676C>T p.H226Y Missense 6/17 - 1
3-133475170-C-A c.680C>A p.S227* Nonsense 6/17 - 2
3-133475170-C-G c.680C>G p.S227W Missense 6/17 - 1
3-133475171-G-A c.681G>A p.S227= Synonymous 6/17 - 2
3-133475171-G-C c.681G>C p.S227= Synonymous 6/17 - 1
3-133475171-G-T c.681G>T p.S227= Synonymous 6/17 - 1
3-133475172-AC-GG c.682_683delinsGG p.T228G Missense 6/17 - 1
3-133475172-A-G c.682A>G p.T228A Missense 6/17 - 2
3-133475178-T-A c.688T>A p.F230I Missense 6/17 - 1
3-133475181-G-A c.691G>A p.E231K Missense 6/17 - 2
3-133475182-G-A c.691+1G>A - IntronicSNV - 6/16 2
3-133475563-G-T c.692-112G>T - IntronicSNV - 6/16 5
3-133475614-G-A c.692-61G>A - IntronicSNV - 6/16 2
3-133475614-G-C c.692-61G>C - IntronicSNV - 6/16 2
3-133475614-G-T c.692-61G>T - IntronicSNV - 6/16 2
3-133475675-A-G c.692A>G p.E231G Missense 7/17 - 1
3-133475676-G-C c.693G>C p.E231D Missense 7/17 - 2
3-133475676-G-T c.693G>T p.E231D Missense 7/17 - 5
3-133475677-A-C c.694A>C p.N232H Missense 7/17 - 1
3-133475679-C-T c.696C>T p.N232= Synonymous 7/17 - 2
3-133475680-T-A c.697T>A p.L233M Missense 7/17 - 1
3-133475683-G-A c.700G>A p.A234T Missense 7/17 - 1
3-133475684-C-G c.701C>G p.A234G Missense 7/17 - 1
3-133475684-C-T c.701C>T p.A234V Missense 7/17 - 2
3-133475685-A-C c.702A>C p.A234= Synonymous 7/17 - 1
3-133475685-A-G c.702A>G p.A234= Synonymous 7/17 - 1
3-133475685-A-T c.702A>T p.A234= Synonymous 7/17 - 1
3-133475686-A-G c.703A>G p.N235D Missense 7/17 - 1
3-133475687-A-C c.704A>C p.N235T Missense 7/17 - 1
3-133475687-A-G c.704A>G p.N235S Missense 7/17 - 2
3-133475689-AA-GC c.706_707delinsGC p.K236A Missense 7/17 - 1
3-133475690-A-G c.707A>G p.K236R Missense 7/17 - 1
3-133475691-G-C c.708G>C p.K236N Missense 7/17 - 1
3-133475691-G-T c.708G>T p.K236N Missense 7/17 - 1
3-133475692-G-A c.709G>A p.A237T Missense 7/17 - 3
3-133475693-C-G c.710C>G p.A237G Missense 7/17 - 2
3-133475693-C-T c.710C>T p.A237V Missense 7/17 - 2
3-133475694-T-A c.711T>A p.A237= Synonymous 7/17 - 1
3-133475694-T-C c.711T>C p.A237= Synonymous 7/17 - 2
3-133475694-T-G c.711T>G p.A237= Synonymous 7/17 - 1
3-133475695-G-A c.712G>A p.D238N Missense 7/17 - 2
3-133475696-A-C c.713A>C p.D238A Missense 7/17 - 1
3-133475697-C-G c.714C>G p.D238E Missense 7/17 - 1
3-133475698-AG-CA c.715_716delinsCA p.R239Q Missense 7/17 - 1
3-133475698-AGG-TGT c.715_717delinsTGT p.R239C Missense 7/17 - 1
3-133475698-A-T c.715A>T p.R239W Missense 7/17 - 1
3-133475700-G-A c.717G>A p.R239= Synonymous 7/17 - 2
3-133475701-G-A c.718G>A p.D240N Missense 7/17 - 1
3-133475701-GAC-TAA c.718_720delinsTAA p.D240* Nonsense 7/17 - 1
3-133475702-A-G c.719A>G p.D240G Missense 7/17 - 1
3-133475703-C-A c.720C>A p.D240E Missense 7/17 - 1
3-133475703-C-G c.720C>G p.D240E Missense 7/17 - 4
3-133475704-C-T c.721C>T p.Q241* Nonsense 7/17 - 1
3-133475705-A-C c.722A>C p.Q241P Missense 7/17 - 1
3-133475705-A-G c.722A>G p.Q241R Missense 7/17 - 1
3-133475706-G-A c.723G>A p.Q241= Synonymous 7/17 - 1
3-133475706-G-C c.723G>C p.Q241H Missense 7/17 - 1
3-133475706-G-T c.723G>T p.Q241H Missense 7/17 - 1
3-133475707-T-C c.724T>C p.Y242H Missense 7/17 - 2
3-133475709-T-A c.726T>A p.Y242* Nonsense 7/17 - 1
3-133475709-T-G c.726T>G p.Y242* Nonsense 7/17 - 1
3-133475710-G-A c.727G>A p.E243K Missense 7/17 - 4
3-133475710-G-C c.727G>C p.E243Q Missense 7/17 - 3
3-133475711-A-G c.728A>G p.E243G Missense 7/17 - 1
3-133475714-T-C c.731T>C p.L244P Missense 7/17 - 1
3-133475716-C-G c.733C>G p.L245V Missense 7/17 - 1
3-133475716-CT-GC c.733_734delinsGC p.L245A Missense 7/17 - 1
3-133475717-T-C c.734T>C p.L245P Missense 7/17 - 1
3-133475719-T-C c.736T>C p.C246R Missense 7/17 - 1
3-133475719-T-G c.736T>G p.C246G Missense 7/17 - 2
3-133475720-G-A c.737G>A p.C246Y Missense 7/17 - 4
3-133475721-C-T c.738C>T p.C246= Synonymous 7/17 - 2
3-133475722-C-T c.739C>T p.L247= Synonymous 7/17 - 49
3-133475722-CTG-TTT c.739_741delinsTTT p.L247F Missense 7/17 - 1
3-133475724-G-A c.741G>A p.L247= Synonymous 7/17 - 5
3-133475724-G-C c.741G>C p.L247= Synonymous 7/17 - 5
3-133475724-G-T c.741G>T p.L247= Synonymous 7/17 - 5
3-133475725-G-A c.742G>A p.D248N Missense 7/17 - 1
3-133475727-C-A c.744C>A p.D248E Missense 7/17 - 1
3-133475727-C-G c.744C>G p.D248E Missense 7/17 - 1
3-133475728-AA-GG c.745_746delinsGG p.N249G Missense 7/17 - 1
3-133475730-C-A c.747C>A p.N249K Missense 7/17 - 1
3-133475732-CC-TG c.749_750delinsTG p.T250M Missense 7/17 - 1
3-133475732-C-T c.749C>T p.T250I Missense 7/17 - 1
3-133475734-C-G c.751C>G p.R251G Missense 7/17 - 1
3-133475734-CGG-TGT c.751_753delinsTGT p.R251C Missense 7/17 - 1
3-133475734-C-T c.751C>T p.R251W Missense 7/17 - 2
3-133475735-G-A c.752G>A p.R251Q Missense 7/17 - 3
3-133475736-G-A c.753G>A p.R251= Synonymous 7/17 - 1
3-133475736-G-T c.753G>T p.R251= Synonymous 7/17 - 1
3-133475737-AA-GC c.754_755delinsGC p.K252A Missense 7/17 - 18
3-133475737-A-C c.754A>C p.K252Q Missense 7/17 - 2
3-133475738-A-G c.755A>G p.K252R Missense 7/17 - 2
3-133475739-G-A c.756G>A p.K252= Synonymous 7/17 - 1
3-133475740-C-T c.757C>T p.P253S Missense 7/17 - 3
3-133475741-C-T c.758C>T p.P253L Missense 7/17 - 1
3-133475743-G-A c.760G>A p.V254I Missense 7/17 - 3
3-133475744-T-G c.761T>G p.V254G Missense 7/17 - 1
3-133475746-G-A c.763G>A p.D255N Missense 7/17 - 1
3-133475746-G-T c.763G>T p.D255Y Missense 7/17 - 1
3-133475747-A-G c.764A>G p.D255G Missense 7/17 - 1
3-133475748-T-A c.765T>A p.D255E Missense 7/17 - 1
3-133475748-T-G c.765T>G p.D255E Missense 7/17 - 1
3-133475749-G-A c.766G>A p.E256K Missense 7/17 - 3
3-133475749-G-T c.766G>T p.E256* Nonsense 7/17 - 1
3-133475750-A-C c.767A>C p.E256A Missense 7/17 - 1
3-133475752-T-A c.769T>A p.Y257N Missense 7/17 - 1
3-133475753-A-G c.770A>G p.Y257C Missense 7/17 - 3
3-133475754-C-A c.771C>A p.Y257* Nonsense 7/17 - 1
3-133475757-G-A c.774G>A p.K258= Synonymous 7/17 - 5
3-133475757-G-C c.774G>C p.K258N Missense 7/17 - 2
3-133475757-G-T c.774G>T p.K258N Missense 7/17 - 1
3-133475758-G-A c.775G>A p.D259N Missense 7/17 - 1
3-133475758-G-T c.775G>T p.D259Y Missense 7/17 - 1
3-133475759-A-C c.776A>C p.D259A Missense 7/17 - 1
3-133475761-TG-AC c.778_779delinsAC p.C260T Missense 7/17 - 1
3-133475761-TG-GT c.778_779delinsGT p.C260V Missense 7/17 - 1
3-133475762-G-T c.779G>T p.C260F Missense 7/17 - 1
3-133475763-C-T c.780C>T p.C260= Synonymous 7/17 - 3
3-133475764-C-T c.781C>T p.H261Y Missense 7/17 - 1
3-133475768-T-G c.785T>G p.L262W Missense 7/17 - 1
3-133475770-G-A c.787G>A p.A263T Missense 7/17 - 2
3-133475770-G-T c.787G>T p.A263S Missense 7/17 - 2
3-133475771-C-G c.788C>G p.A263G Missense 7/17 - 3
3-133475773-CA-GT c.790_791delinsGT p.Q264V Missense 7/17 - 1
3-133475773-C-T c.790C>T p.Q264* Nonsense 7/17 - 1
3-133475778-C-T c.795C>T p.V265= Synonymous 7/17 - 3
3-133475779-C-T c.796C>T p.P266S Missense 7/17 - 4
3-133475780-C-T c.797C>T p.P266L Missense 7/17 - 2
3-133475782-T-G c.799T>G p.S267A Missense 7/17 - 1
3-133475785-CA-GC c.802_803delinsGC p.H268A Missense 7/17 - 1
3-133475785-CA-TT c.802_803delinsTT p.H268F Missense 7/17 - 1
3-133475785-C-G c.802C>G p.H268D Missense 7/17 - 2
3-133475785-C-T c.802C>T p.H268Y Missense 7/17 - 3
3-133475787-T-C c.804T>C p.H268= Synonymous 7/17 - 1
3-133475789-C-T c.806C>T p.T269I Missense 7/17 - 2
3-133475790-C-A c.807C>A p.T269= Synonymous 7/17 - 2
3-133475790-C-G c.807C>G p.T269= Synonymous 7/17 - 2
3-133475790-C-T c.807C>T p.T269= Synonymous 7/17 - 3
3-133475791-G-A c.808G>A p.V270I Missense 7/17 - 2
3-133475792-T-A c.809T>A p.V270D Missense 7/17 - 1
3-133475793-C-A c.810C>A p.V270= Synonymous 7/17 - 1
3-133475793-C-G c.810C>G p.V270= Synonymous 7/17 - 1
3-133475793-C-T c.810C>T p.V270= Synonymous 7/17 - 6
3-133475794-G-A c.811G>A p.V271M Missense 7/17 - 3
3-133475796-G-A c.813G>A p.V271= Synonymous 7/17 - 2
3-133475797-G-A c.814G>A p.A272T Missense 7/17 - 1
3-133475797-G-C c.814G>C p.A272P Missense 7/17 - 1
3-133475798-C-G c.815C>G p.A272G Missense 7/17 - 2
3-133475798-C-T c.815C>T p.A272V Missense 7/17 - 1
3-133475800-CGA-TGG c.817_819delinsTGG p.R273W Missense 7/17 - 1
3-133475800-CGA-TGT c.817_819delinsTGT p.R273C Missense 7/17 - 1
3-133475800-C-T c.817C>T p.R273* Nonsense 7/17 - 4
3-133475801-G-A c.818G>A p.R273Q Missense 7/17 - 12
3-133475801-GA-AT c.818_819delinsAT p.R273H Missense 7/17 - 3
3-133475803-AG-GC c.820_821delinsGC p.S274A Missense 7/17 - 1
3-133475806-A-G c.823A>G p.M275V Missense 7/17 - 1
3-133475806-AT-TA c.823_824delinsTA p.M275* Nonsense 7/17 - 1
3-133475809-G-A c.826G>A p.G276S Missense 7/17 - 1
3-133475809-G-C c.826G>C p.G276R Missense 7/17 - 1
3-133475810-GC-AG c.827_828delinsAG p.G276E Missense 7/17 - 1
3-133475811-C-A c.828C>A p.G276= Synonymous 7/17 - 1
3-133475811-C-G c.828C>G p.G276= Synonymous 7/17 - 1
3-133475811-C-T c.828C>T p.G276= Synonymous 7/17 - 1
3-133475812-G-A c.829G>A p.G277S Missense 7/17 - 36
3-133475812-GG-AC c.829_830delinsAC p.G277T Missense 7/17 - 1
3-133475812-G-T c.829G>T p.G277C Missense 7/17 - 1
3-133475813-G-A c.830G>A p.G277D Missense 7/17 - 3
3-133475813-G-C c.830G>C p.G277A Missense 7/17 - 1
3-133475814-C-A c.831C>A p.G277= Synonymous 7/17 - 1
3-133475814-C-G c.831C>G p.G277= Synonymous 7/17 - 1
3-133475814-C-T c.831C>T p.G277= Synonymous 7/17 - 2
3-133475815-AA-GC c.832_833delinsGC p.K278A Missense 7/17 - 2
3-133475815-A-G c.832A>G p.K278E Missense 7/17 - 1
3-133475816-A-C c.833A>C p.K278T Missense 7/17 - 1
3-133475816-A-G c.833A>G p.K278R Missense 7/17 - 1
3-133475817-G-A c.834G>A p.K278= Synonymous 7/17 - 1
3-133475817-G-C c.834G>C p.K278N Missense 7/17 - 2
3-133475817-G-T c.834G>T p.K278N Missense 7/17 - 2
3-133475818-G-A c.835G>A p.E279K Missense 7/17 - 5
3-133475819-AG-A c.838del p.D280Tfs*2 Frameshift 7/17 - 1
3-133475821-G-A c.838G>A p.D280N Missense 7/17 - 2
3-133475822-A-T c.839A>T p.D280V Missense 7/17 - 1
3-133475824-T-G c.841T>G p.L281V Missense 7/17 - 1
3-133475824-TT-AC c.841_842delinsAC p.L281T Missense 7/17 - 1
3-133475824-TT-GG c.841_842delinsGG p.L281G Missense 7/17 - 1
3-133475825-T-C c.842T>C p.L281S Missense 7/17 - 1
3-133475825-TG-AT c.842_843delinsAT p.L281Y Missense 7/17 - 1
3-133475826-G-C c.843G>C p.L281F Missense 7/17 - 1
3-133475826-G-T c.843G>T p.L281F Missense 7/17 - 1
3-133475826-TG-T c.843del p.I282Sfs*41 Frameshift 7/17 - 1
3-133475827-A-G c.844A>G p.I282V Missense 7/17 - 1
3-133475827-A-T c.844A>T p.I282F Missense 7/17 - 1
3-133475828-T-C c.845T>C p.I282T Missense 7/17 - 1
3-133475829-C-T c.846C>T p.I282= Synonymous 7/17 - 1
3-133475830-T-G c.847T>G p.W283G Missense 7/17 - 1
3-133475833-G-A c.850G>A p.E284K Missense 7/17 - 1
3-133475833-GAG-TGT c.850_852delinsTGT p.E284C Missense 7/17 - 2
3-133475836-C-A c.853C>A p.L285I Missense 7/17 - 1
3-133475836-C-G c.853C>G p.L285V Missense 7/17 - 3
3-133475837-T-C c.854T>C p.L285P Missense 7/17 - 1
3-133475839-C-G c.856C>G p.L286V Missense 7/17 - 5
3-133475839-CT-AA c.856_857delinsAA p.L286N Missense 7/17 - 1
3-133475839-CTC-TAA c.856_858delinsTAA p.L286* Nonsense 7/17 - 1
3-133475841-C-A c.858C>A p.L286= Synonymous 7/17 - 1
3-133475841-C-G c.858C>G p.L286= Synonymous 7/17 - 1
3-133475841-C-T c.858C>T p.L286= Synonymous 7/17 - 1
3-133475844-C-T c.861C>T p.N287= Synonymous 7/17 - 3
3-133475848-G-C c.865G>C p.A289P Missense 7/17 - 1
3-133475848-G-T c.865G>T p.A289S Missense 7/17 - 1
3-133475849-C-G c.866C>G p.A289G Missense 7/17 - 1
3-133475849-C-T c.866C>T p.A289V Missense 7/17 - 1
3-133475851-CA-GC c.868_869delinsGC p.Q290A Missense 7/17 - 2
3-133475851-C-T c.868C>T p.Q290* Nonsense 7/17 - 1
3-133475852-A-G c.869A>G p.Q290R Missense 7/17 - 1
3-133475960-C-A c.870+107C>A - IntronicSNV - 7/16 1
3-133476078-C-A c.870+225C>A - IntronicSNV - 7/16 1
3-133476083-G-A c.870+230G>A - IntronicSNV - 7/16 4
3-133476327-T-C c.871-286T>C - IntronicSNV - 7/16 1
3-133476421-C-G c.871-192C>G - IntronicSNV - 7/16 3
3-133476421-C-T c.871-192C>T - IntronicSNV - 7/16 3
3-133476613-G-T c.871G>T p.E291* Nonsense 8/17 - 1
3-133476616-C-G c.874C>G p.H292D Missense 8/17 - 1
3-133476617-A-G c.875A>G p.H292R Missense 8/17 - 1
3-133476622-G-T c.880G>T p.G294C Missense 8/17 - 1
3-133476623-G-A c.881G>A p.G294D Missense 8/17 - 1
3-133476623-G-T c.881G>T p.G294V Missense 8/17 - 3
3-133476624-C-A c.882C>A p.G294= Synonymous 8/17 - 1
3-133476624-C-G c.882C>G p.G294= Synonymous 8/17 - 1
3-133476624-C-T c.882C>T p.G294= Synonymous 8/17 - 1
3-133476625-A-G c.883A>G p.K295E Missense 8/17 - 1
3-133476626-A-G c.884A>G p.K295R Missense 8/17 - 1
3-133476628-G-A c.886G>A p.D296N Missense 8/17 - 1
3-133476628-GAC-AAG c.886_888delinsAAG p.D296K Missense 8/17 - 1
3-133476628-G-C c.886G>C p.D296H Missense 8/17 - 1
3-133476628-G-T c.886G>T p.D296Y Missense 8/17 - 4
3-133476628-G-GA c.887dup p.D296Efs*20 Frameshift 8/17 - 1
3-133476629-A-C c.887A>C p.D296A Missense 8/17 - 1
3-133476629-A-G c.887A>G p.D296G Missense 8/17 - 7
3-133476632-A-T c.890A>T p.K297I Missense 8/17 - 1
3-133476633-A-C c.891A>C p.K297N Missense 8/17 - 1
3-133476633-A-T c.891A>T p.K297N Missense 8/17 - 1
3-133476634-T-C c.892T>C p.S298P Missense 8/17 - 1
3-133476634-T-G c.892T>G p.S298A Missense 8/17 - 1
3-133476635-C-T c.893C>T p.S298L Missense 8/17 - 1
3-133476637-AA-GC c.895_896delinsGC p.K299A Missense 8/17 - 2
3-133476637-A-G c.895A>G p.K299E Missense 8/17 - 1
3-133476638-A-C c.896A>C p.K299T Missense 8/17 - 6
3-133476639-A-G c.897A>G p.K299= Synonymous 8/17 - 1
3-133476640-G-A c.898G>A p.E300K Missense 8/17 - 1
3-133476640-G-T c.898G>T p.E300* Nonsense 8/17 - 2
3-133476642-A-G c.900A>G p.E300= Synonymous 8/17 - 1
3-133476643-TT-GC c.901_902delinsGC p.F301A Missense 8/17 - 1
3-133476645-C-A c.903C>A p.F301L Missense 8/17 - 1
3-133476645-C-T c.903C>T p.F301= Synonymous 8/17 - 3
3-133476646-C-A c.904C>A p.Q302K Missense 8/17 - 1
3-133476646-C-T c.904C>T p.Q302* Nonsense 8/17 - 1
3-133476650-T-C c.908T>C p.L303P Missense 8/17 - 1
3-133476652-T-C c.910T>C p.F304L Missense 8/17 - 1
3-133476654-C-A c.912C>A p.F304L Missense 8/17 - 1
3-133476654-C-G c.912C>G p.F304L Missense 8/17 - 1
3-133476653-T-C c.911T>C p.F304S Missense 8/17 - 1
3-133476656-G-A c.914G>A p.S305N Missense 8/17 - 4
3-133476656-G-T c.914G>T p.S305I Missense 8/17 - 3
3-133476657-C-T c.915C>T p.S305= Synonymous 8/17 - 3
3-133476661-CC-TT c.919_920delinsTT p.P307F Missense 8/17 - 1
3-133476661-C-T c.919C>T p.P307S Missense 8/17 - 1
3-133476662-C-T c.920C>T p.P307L Missense 8/17 - 2
3-133476663-T-A c.921T>A p.P307= Synonymous 8/17 - 1
3-133476663-T-C c.921T>C p.P307= Synonymous 8/17 - 1
3-133476663-T-G c.921T>G p.P307= Synonymous 8/17 - 1
3-133476664-CA-GC c.922_923delinsGC p.H308A Missense 8/17 - 1
3-133476664-C-T c.922C>T p.H308Y Missense 8/17 - 1
3-133476668-G-A c.926G>A p.G309E Missense 8/17 - 6
3-133476668-G-C c.926G>C p.G309A Missense 8/17 - 1
3-133476668-GG-AC c.926_927delinsAC p.G309D Missense 8/17 - 1
3-133476668-G-T c.926G>T p.G309V Missense 8/17 - 1
3-133476669-G-A c.927G>A p.G309= Synonymous 8/17 - 1
3-133476669-G-C c.927G>C p.G309= Synonymous 8/17 - 1
3-133476669-G-T c.927G>T p.G309= Synonymous 8/17 - 2
3-133476670-A-T c.928A>T p.K310* Nonsense 8/17 - 1
3-133476671-A-G c.929A>G p.K310R Missense 8/17 - 1
3-133476672-G-A c.930G>A p.K310= Synonymous 8/17 - 2
3-133476673-G-A c.931G>A p.D311N Missense 8/17 - 1
3-133476673-G-T c.931G>T p.D311Y Missense 8/17 - 2
3-133476674-A-C c.932A>C p.D311A Missense 8/17 - 1
3-133476674-A-G c.932A>G p.D311G Missense 8/17 - 1
3-133476675-C-T c.933C>T p.D311= Synonymous 8/17 - 1
3-133476676-CTG-TTT c.934_936delinsTTT p.L312F Missense 8/17 - 1
3-133476676-CT-TA c.934_935delinsTA p.L312* Nonsense 8/17 - 1
3-133476677-T-G c.935T>G p.L312R Missense 8/17 - 1
3-133476679-C-T c.937C>T p.L313= Synonymous 8/17 - 3
3-133476681-G-A c.939G>A p.L313= Synonymous 8/17 - 1
3-133476681-G-C c.939G>C p.L313= Synonymous 8/17 - 1
3-133476681-G-T c.939G>T p.L313= Synonymous 8/17 - 1
3-133476684-T-A c.942T>A p.F314L Missense 8/17 - 1
3-133476684-T-C c.942T>C p.F314= Synonymous 8/17 - 1
3-133476685-TAAG-T c.943_945del p.K315del InFrameDeletion 8/17 - 1
3-133476687-G-A c.945G>A p.K315= Synonymous 8/17 - 3
3-133476687-G-C c.945G>C p.K315N Missense 8/17 - 2
3-133476687-G-T c.945G>T p.K315N Missense 8/17 - 1
3-133476688-G-A c.946G>A p.D316N Missense 8/17 - 1
3-133476689-A-C c.947A>C p.D316A Missense 8/17 - 1
3-133476691-T-G c.949T>G p.S317A Missense 8/17 - 1
3-133476692-C-G c.950C>G p.S317C Missense 8/17 - 3
3-133476694-G-A c.952G>A p.A318T Missense 8/17 - 1
3-133476694-G-C c.952G>C p.A318P Missense 8/17 - 1
3-133476695-C-G c.953C>G p.A318G Missense 8/17 - 1
3-133476696-C-A c.954C>A p.A318= Synonymous 8/17 - 1
3-133476696-C-G c.954C>G p.A318= Synonymous 8/17 - 1
3-133476696-C-T c.954C>T p.A318= Synonymous 8/17 - 1
3-133476697-C-G c.955C>G p.H319D Missense 8/17 - 1
3-133476698-A-G c.956A>G p.H319R Missense 8/17 - 8
3-133476699-C-A c.957C>A p.H319Q Missense 8/17 - 1
3-133476699-C-G c.957C>G p.H319Q Missense 8/17 - 1
3-133476699-C-T c.957C>T p.H319= Synonymous 8/17 - 1
3-133476700-G-A c.958G>A p.G320R Missense 8/17 - 2
3-133476700-G-C c.958G>C p.G320R Missense 8/17 - 2
3-133476700-GG-AC c.958_959delinsAC p.G320T Missense 8/17 - 2
3-133476701-G-C c.959G>C p.G320A Missense 8/17 - 1
3-133476701-GG-AC c.959_960delinsAC p.G320D Missense 8/17 - 1
3-133476704-T-A c.962T>A p.F321Y Missense 8/17 - 3
3-133476709-AA-GC c.967_968delinsGC p.K323A Missense 8/17 - 1
3-133476711-A-AG c.970dup p.V324Gfs*14 Frameshift 8/17 - 1
3-133476712-G-A c.970G>A p.V324I Missense 8/17 - 2
3-133476712-G-T c.970G>T p.V324F Missense 8/17 - 1
3-133476713-T-C c.971T>C p.V324A Missense 8/17 - 1
3-133476714-C-A c.972C>A p.V324= Synonymous 8/17 - 1
3-133476714-C-T c.972C>T p.V324= Synonymous 8/17 - 1
3-133476715-C-T c.973C>T p.P325S Missense 8/17 - 2
3-133476717-C-T c.975C>T p.P325= Synonymous 8/17 - 2
3-133476718-C-T c.976C>T p.P326S Missense 8/17 - 3
3-133476719-C-A c.977C>A p.P326H Missense 8/17 - 3
3-133476719-C-T c.977C>T p.P326L Missense 8/17 - 2
3-133476713-TC-T c.978del p.R327Gfs*35 Frameshift 8/17 - 2
3-133476713-T-TC c.978dup p.R327Qfs*11 Frameshift 8/17 - 5
3-133476721-AG-GC c.979_980delinsGC p.R327A Missense 8/17 - 1
3-133476721-AGG-TGT c.979_981delinsTGT p.R327C Missense 8/17 - 1
3-133476721-AG-TA c.979_980delinsTA p.R327* Nonsense 8/17 - 1
3-133476722-G-A c.980G>A p.R327K Missense 8/17 - 2
3-133476721-A-C c.979A>C p.R327= Synonymous 8/17 - 1
3-133476723-G-A c.981G>A p.R327= Synonymous 8/17 - 2
3-133476727-G-A c.985G>A p.D329N Missense 8/17 - 2
3-133476730-G-A c.988G>A p.A330T Missense 8/17 - 1
3-133476730-GC-CT c.988_989delinsCT p.A330L Missense 8/17 - 1
3-133476731-C-G c.989C>G p.A330G Missense 8/17 - 1
3-133476731-C-T c.989C>T p.A330V Missense 8/17 - 1
3-133476734-A-G c.992A>G p.K331R Missense 8/17 - 1
3-133476734-AG-TC c.992_993delinsTC p.K331I Missense 8/17 - 1
3-133476735-G-A c.993G>A p.K331= Synonymous 8/17 - 1
3-133476735-G-C c.993G>C p.K331N Missense 8/17 - 2
3-133476735-G-T c.993G>T p.K331N Missense 8/17 - 2
3-133476739-T-C c.997T>C p.Y333H Missense 8/17 - 1
3-133476742-CTG-TTT c.1000_1002delinsTTT p.L334F Missense 8/17 - 1
3-133476744-G-C c.1002G>C p.L334= Synonymous 8/17 - 1
3-133476745-G-A c.1003G>A p.G335S Missense 8/17 - 2
3-133476746-G-A c.1004G>A p.G335D Missense 8/17 - 2
3-133476746-GC-AG c.1004_1005delinsAG p.G335E Missense 8/17 - 1
3-133476746-G-T c.1004G>T p.G335V Missense 8/17 - 1
3-133476748-T-C c.1006T>C p.Y336H Missense 8/17 - 1
3-133476749-A-T c.1007A>T p.Y336F Missense 8/17 - 1
3-133476750-T-A c.1008T>A p.Y336* Nonsense 8/17 - 2
3-133476751-G-A c.1009G>A p.E337K Missense 8/17 - 2
3-133476751-G-C c.1009G>C p.E337Q Missense 8/17 - 9
3-133476753-G-A c.1011G>A p.E337= Synonymous 8/17 - 1
3-133476754-T-TA c.1013dup p.Y338* Nonsense 8/17 - 1
3-133476755-AT-GG c.1013_1014delinsGG p.Y338W Missense 8/17 - 1
3-133476759-C-T c.1017C>T p.V339= Synonymous 8/17 - 1
3-133476760-A-T c.1018A>T p.T340S Missense 8/17 - 1
3-133476761-C-G c.1019C>G p.T340S Missense 8/17 - 1
3-133476764-C-G c.1022C>G p.A341G Missense 8/17 - 1
3-133476765-C-T c.1023C>T p.A341= Synonymous 8/17 - 1
3-133476766-A-C c.1024A>C p.I342L Missense 8/17 - 1
3-133476768-C-T c.1026C>T p.I342= Synonymous 8/17 - 1
3-133476769-CG-GC c.1027_1028delinsGC p.R343A Missense 8/17 - 3
3-133476769-C-T c.1027C>T p.R343W Missense 8/17 - 12
3-133476770-G-A c.1028G>A p.R343Q Missense 8/17 - 4
3-133476770-GG-AT c.1028_1029delinsAT p.R343H Missense 8/17 - 1
3-133476772-A-G c.1030A>G p.N344D Missense 8/17 - 1
3-133476776-T-C c.1034T>C p.L345P Missense 8/17 - 2
3-133476778-C-A c.1036C>A p.R346= Synonymous 8/17 - 1
3-133476778-C-G c.1036C>G p.R346G Missense 8/17 - 1
3-133476778-CG-AA c.1036_1037delinsAA p.R346K Missense 8/17 - 11
3-133476778-CG-AC c.1036_1037delinsAC p.R346T Missense 8/17 - 3
3-133476778-CG-AT c.1036_1037delinsAT p.R346M Missense 8/17 - 1
3-133476778-CGG-AGC c.1036_1038delinsAGC p.R346S Missense 8/17 - 6
3-133476778-CGG-ATC c.1036_1038delinsATC p.R346I Missense 8/17 - 1
3-133476778-CG-GC c.1036_1037delinsGC p.R346A Missense 8/17 - 1
3-133476780-G-C c.1038G>C p.R346= Synonymous 8/17 - 1
3-133476780-G-T c.1038G>T p.R346= Synonymous 8/17 - 1
3-133476779-G-A c.1037G>A p.R346Q Missense 8/17 - 3
3-133476779-GG-AT c.1037_1038delinsAT p.R346H Missense 8/17 - 1
3-133476780-G-A c.1038G>A p.R346= Synonymous 8/17 - 2
3-133476781-G-A c.1039G>A p.E347K Missense 8/17 - 2
3-133476781-G-C c.1039G>C p.E347Q Missense 8/17 - 1
3-133476781-G-T c.1039G>T p.E347* Nonsense 8/17 - 1
3-133476784-G-A c.1042G>A p.G348S Missense 8/17 - 1
3-133476784-G-C c.1042G>C p.G348R Missense 8/17 - 1
3-133476784-G-T c.1042G>T p.G348C Missense 8/17 - 2
3-133476785-GC-AG c.1043_1044delinsAG p.G348E Missense 8/17 - 2
3-133476785-G-T c.1043G>T p.G348V Missense 8/17 - 1
3-133476787-A-T c.1045A>T p.T349S Missense 8/17 - 2
3-133476788-C-G c.1046C>G p.T349R Missense 8/17 - 1
3-133476788-C-T c.1046C>T p.T349I Missense 8/17 - 1
3-133476790-T-C c.1048T>C p.C350R Missense 8/17 - 1
3-133476818-C-T c.1048+28C>T - IntronicSNV - 8/16 1
3-133476852-C-G c.1048+62C>G - IntronicSNV - 8/16 6
3-133476852-C-T c.1048+62C>T - IntronicSNV - 8/16 6
3-133477701-T-C c.1049-318T>C - IntronicSNV - 8/16 21
3-133477701-T-G c.1049-318T>G - IntronicSNV - 8/16 21
3-133477961-C-T c.1049-58C>T - IntronicSNV - 8/16 1
3-133478019-G-A c.1049G>A p.C350Y Missense 9/17 - 1
3-133478020-C-A c.1050C>A p.C350* Nonsense 9/17 - 1
3-133478020-C-T c.1050C>T p.C350= Synonymous 9/17 - 1
3-133478021-C-T c.1051C>T p.P351S Missense 9/17 - 2
3-133478022-C-T c.1052C>T p.P351L Missense 9/17 - 1
3-133478024-G-A c.1054G>A p.E352K Missense 9/17 - 3
3-133478024-G-C c.1054G>C p.E352Q Missense 9/17 - 1
3-133478027-G-A c.1057G>A p.A353T Missense 9/17 - 1
3-133478028-C-G c.1058C>G p.A353G Missense 9/17 - 1
3-133478031-C-T c.1061C>T p.P354L Missense 9/17 - 3
3-133478033-ACA-TGT c.1063_1065inv p.T355C Missense 9/17 - 1
3-133478034-C-A c.1064C>A p.T355K Missense 9/17 - 1
3-133478034-C-T c.1064C>T p.T355I Missense 9/17 - 1
3-133478037-A-C c.1067A>C p.D356A Missense 9/17 - 2
3-133478037-A-G c.1067A>G p.D356G Missense 9/17 - 1
3-133478039-G-C c.1069G>C p.E357Q Missense 9/17 - 1
3-133478040-A-C c.1070A>C p.E357A Missense 9/17 - 2
3-133478042-T-A c.1072T>A p.C358S Missense 9/17 - 1
3-133478042-TG-AC c.1072_1073delinsAC p.C358T Missense 9/17 - 1
3-133478042-TG-GC c.1072_1073delinsGC p.C358A Missense 9/17 - 2
3-133478043-G-C c.1073G>C p.C358S Missense 9/17 - 2
3-133478043-G-A c.1073G>A p.C358Y Missense 9/17 - 1
3-133478043-G-T c.1073G>T p.C358F Missense 9/17 - 4
3-133478044-C-T c.1074C>T p.C358= Synonymous 9/17 - 1
3-133478047-G-A c.1077G>A p.K359= Synonymous 9/17 - 1
3-133478048-C-T c.1078C>T p.P360S Missense 9/17 - 1
3-133478049-C-A c.1079C>A p.P360H Missense 9/17 - 2
3-133478049-C-T c.1079C>T p.P360L Missense 9/17 - 1
3-133478051-G-C c.1081G>C p.V361L Missense 9/17 - 1
3-133478054-A-G c.1084A>G p.K362E Missense 9/17 - 1
3-133478058-G-A c.1088G>A p.W363* Nonsense 9/17 - 2
3-133478058-G-T c.1088G>T p.W363L Missense 9/17 - 1
3-133478059-G-A c.1089G>A p.W363* Nonsense 9/17 - 1
3-133478059-G-C c.1089G>C p.W363C Missense 9/17 - 4
3-133478059-G-T c.1089G>T p.W363C Missense 9/17 - 7
3-133478060-T-A c.1090T>A p.C364S Missense 9/17 - 1
3-133478060-T-G c.1090T>G p.C364G Missense 9/17 - 1
3-133478060-TG-AC c.1090_1091delinsAC p.C364T Missense 9/17 - 1
3-133478061-G-T c.1091G>T p.C364F Missense 9/17 - 1
3-133478062-T-C c.1092T>C p.C364= Synonymous 9/17 - 2
3-133478063-G-A c.1093G>A p.A365T Missense 9/17 - 2
3-133478063-GC-AG c.1093_1094delinsAG p.A365R Missense 9/17 - 2
3-133478063-GCG-TGT c.1093_1095delinsTGT p.A365C Missense 9/17 - 1
3-133478064-C-T c.1094C>T p.A365V Missense 9/17 - 1
3-133478065-G-A c.1095G>A p.A365= Synonymous 9/17 - 3
3-133478065-G-C c.1095G>C p.A365= Synonymous 9/17 - 1
3-133478065-G-T c.1095G>T p.A365= Synonymous 9/17 - 1
3-133478066-C-T c.1096C>T p.L366= Synonymous 9/17 - 1
3-133478068-G-A c.1098G>A p.L366= Synonymous 9/17 - 2
3-133478068-G-C c.1098G>C p.L366= Synonymous 9/17 - 1
3-133478068-G-T c.1098G>T p.L366= Synonymous 9/17 - 1
3-133478069-AG-GC c.1099_1100delinsGC p.S367A Missense 9/17 - 1
3-133478070-G-T c.1100G>T p.S367I Missense 9/17 - 1
3-133478074-C-T c.1104C>T p.H368= Synonymous 9/17 - 1
3-133478075-C-A c.1105C>A p.H369N Missense 9/17 - 1
3-133478075-C-T c.1105C>T p.H369Y Missense 9/17 - 1
3-133478076-A-G c.1106A>G p.H369R Missense 9/17 - 1
3-133478077-C-T c.1107C>T p.H369= Synonymous 9/17 - 1
3-133478078-G-A c.1108G>A p.E370K Missense 9/17 - 10
3-133478078-GA-AG c.1108_1109delinsAG p.E370R Missense 9/17 - 1
3-133478081-A-G c.1111A>G p.R371G Missense 9/17 - 1
3-133478081-AG-CA c.1111_1112delinsCA p.R371Q Missense 9/17 - 3
3-133478081-AG-GC c.1111_1112delinsGC p.R371A Missense 9/17 - 1
3-133478081-AGG-CAT c.1111_1113delinsCAT p.R371H Missense 9/17 - 1
3-133478081-AGG-TGT c.1111_1113delinsTGT p.R371C Missense 9/17 - 1
3-133478081-AG-TA c.1111_1112delinsTA p.R371* Nonsense 9/17 - 1
3-133478082-G-A c.1112G>A p.R371K Missense 9/17 - 1
3-133478084-CTC-ATG c.1114_1116delinsATG p.L372M Missense 9/17 - 1
3-133478085-T-C c.1115T>C p.L372P Missense 9/17 - 2
3-133478085-TC-AA c.1115_1116delinsAA p.L372Q Missense 9/17 - 1
3-133478085-T-G c.1115T>G p.L372R Missense 9/17 - 1
3-133478086-C-A c.1116C>A p.L372= Synonymous 9/17 - 1
3-133478086-C-G c.1116C>G p.L372= Synonymous 9/17 - 1
3-133478086-C-T c.1116C>T p.L372= Synonymous 9/17 - 1
3-133478092-T-C c.1122T>C p.C374= Synonymous 9/17 - 1
3-133478099-T-C c.1129T>C p.W377R Missense 9/17 - 1
3-133478100-G-A c.1130G>A p.W377* Nonsense 9/17 - 1
3-133478101-G-A c.1131G>A p.W377* Nonsense 9/17 - 1
3-133478101-G-C c.1131G>C p.W377C Missense 9/17 - 3
3-133478101-G-T c.1131G>T p.W377C Missense 9/17 - 2
3-133478102-A-T c.1132A>T p.S378C Missense 9/17 - 1
3-133478104-T-C c.1134T>C p.S378= Synonymous 9/17 - 1
3-133478105-G-A c.1135G>A p.V379I Missense 9/17 - 1
3-133478106-T-C c.1136T>C p.V379A Missense 9/17 - 1
3-133478107-T-A c.1137T>A p.V379= Synonymous 9/17 - 1
3-133478107-T-C c.1137T>C p.V379= Synonymous 9/17 - 1
3-133478107-T-G c.1137T>G p.V379= Synonymous 9/17 - 1
3-133478108-AA-GC c.1138_1139delinsGC p.N380A Missense 9/17 - 1
3-133478110-C-A c.1140C>A p.N380K Missense 9/17 - 1
3-133478111-A-T c.1141A>T p.S381C Missense 9/17 - 1
3-133478112-G-A c.1142G>A p.S381N Missense 9/17 - 2
3-133478112-G-T c.1142G>T p.S381I Missense 9/17 - 1
3-133478111-A-C c.1141A>C p.S381R Missense 9/17 - 1
3-133478114-G-A c.1144G>A p.V382I Missense 9/17 - 1
3-133478114-G-C c.1144G>C p.V382L Missense 9/17 - 3
3-133478114-G-T c.1144G>T p.V382L Missense 9/17 - 5
3-133478115-T-A c.1145T>A p.V382E Missense 9/17 - 1
3-133478117-G-A c.1147G>A p.G383R Missense 9/17 - 3
3-133478117-G-C c.1147G>C p.G383R Missense 9/17 - 4
3-133478118-G-C c.1148G>C p.G383A Missense 9/17 - 1
3-133478118-GG-AC c.1148_1149delinsAC p.G383D Missense 9/17 - 1
3-133478119-G-A c.1149G>A p.G383= Synonymous 9/17 - 2
3-133478119-G-C c.1149G>C p.G383= Synonymous 9/17 - 1
3-133478119-G-T c.1149G>T p.G383= Synonymous 9/17 - 1
3-133478121-A-G c.1151A>G p.K384R Missense 9/17 - 1
3-133478123-A-T c.1153A>T p.I385L Missense 9/17 - 1
3-133478126-GA-CT c.1156_1157delinsCT p.E386L Missense 9/17 - 1
3-133478126-G-C c.1156G>C p.E386Q Missense 9/17 - 1
3-133478128-G-C c.1158G>C p.E386D Missense 9/17 - 1
3-133478129-T-A c.1159T>A p.C387S Missense 9/17 - 1
3-133478130-G-C c.1160G>C p.C387S Missense 9/17 - 1
3-133478132-G-A c.1162G>A p.V388I Missense 9/17 - 1
3-133478134-A-C c.1164A>C p.V388= Synonymous 9/17 - 1
3-133478134-A-G c.1164A>G p.V388= Synonymous 9/17 - 1
3-133478134-A-T c.1164A>T p.V388= Synonymous 9/17 - 1
3-133478135-TC-AG c.1165_1166delinsAG p.S389R Missense 9/17 - 1
3-133478135-TC-GA c.1165_1166inv p.S389E Missense 9/17 - 1
3-133478135-TC-GG c.1165_1166delinsGG p.S389G Missense 9/17 - 1
3-133478135-T-G c.1165T>G p.S389A Missense 9/17 - 5
3-133478136-CA-TT c.1166_1167delinsTT p.S389F Missense 9/17 - 1
3-133478137-A-C c.1167A>C p.S389= Synonymous 9/17 - 1
3-133478137-A-G c.1167A>G p.S389= Synonymous 9/17 - 2
3-133478137-A-T c.1167A>T p.S389= Synonymous 9/17 - 1
3-133478138-G-C c.1168G>C p.A390P Missense 9/17 - 1
3-133478139-C-T c.1169C>T p.A390V Missense 9/17 - 1
3-133478138-G-GCACTTCTTA c.1170_1171insCTTCTTACA p.A390_E391insLLT InFrameInsertion 9/17 - 1
3-133478141-G-A c.1171G>A p.E391K Missense 9/17 - 2
3-133478141-GAG-TGT c.1171_1173delinsTGT p.E391C Missense 9/17 - 1
3-133478142-A-C c.1172A>C p.E391A Missense 9/17 - 1
3-133478143-G-C c.1173G>C p.E391D Missense 9/17 - 1
3-133478143-G-T c.1173G>T p.E391D Missense 9/17 - 1
3-133478144-A-G c.1174A>G p.T392A Missense 9/17 - 2
3-133478145-C-CT c.1175_1176insT p.T393Hfs*14 Frameshift 9/17 - 1
3-133478145-C-T c.1175C>T p.T392I Missense 9/17 - 1
3-133478147-AC-TG c.1177_1178delinsTG p.T393C Missense 9/17 - 3
3-133478148-C-T c.1178C>T p.T393I Missense 9/17 - 2
3-133478149-C-A c.1179C>A p.T393= Synonymous 9/17 - 3
3-133478149-C-G c.1179C>G p.T393= Synonymous 9/17 - 3
3-133478149-C-T c.1179C>T p.T393= Synonymous 9/17 - 3
3-133478150-G-A c.1180G>A p.E394K Missense 9/17 - 16
3-133478151-A-C c.1181A>C p.E394A Missense 9/17 - 2
3-133478153-G-T c.1183G>T p.D395Y Missense 9/17 - 1
3-133478154-A-C c.1184A>C p.D395A Missense 9/17 - 1
3-133478155-C-A c.1185C>A p.D395E Missense 9/17 - 4
3-133478155-C-G c.1185C>G p.D395E Missense 9/17 - 2
3-133478156-T-A c.1186T>A p.C396S Missense 9/17 - 1
3-133478156-T-G c.1186T>G p.C396G Missense 9/17 - 1
3-133478157-G-C c.1187G>C p.C396S Missense 9/17 - 1
3-133478158-C-T c.1188C>T p.C396= Synonymous 9/17 - 1
3-133478161-C-A c.1191C>A p.I397= Synonymous 9/17 - 4
3-133478161-C-T c.1191C>T p.I397= Synonymous 9/17 - 6
3-133478162-G-A c.1192G>A p.A398T Missense 9/17 - 4
3-133478162-G-T c.1192G>T p.A398S Missense 9/17 - 4
3-133478163-C-G c.1193C>G p.A398G Missense 9/17 - 1
3-133478165-AA-GC c.1195_1196delinsGC p.K399A Missense 9/17 - 2
3-133478165-A-C c.1195A>C p.K399Q Missense 9/17 - 1
3-133478165-A-G c.1195A>G p.K399E Missense 9/17 - 1
3-133478167-G-C c.1197G>C p.K399N Missense 9/17 - 1
3-133478167-G-T c.1197G>T p.K399N Missense 9/17 - 2
3-133478170-C-A c.1200C>A p.I400= Synonymous 9/17 - 3
3-133478170-C-G c.1200C>G p.I400M Missense 9/17 - 2
3-133478170-C-T c.1200C>T p.I400= Synonymous 9/17 - 5
3-133478171-A-G c.1201A>G p.M401V Missense 9/17 - 2
3-133478173-G-T c.1203G>T p.M401I Missense 9/17 - 1
3-133478354-G-A c.1203+181G>A - IntronicSNV - 9/16 1
3-133478557-T-A c.1203+384T>A - IntronicSNV - 9/16 1
3-133478557-T-G c.1203+384T>G - IntronicSNV - 9/16 2
3-133478671-T-A c.1203+498T>A - IntronicSNV - 9/16 1
3-133478670-AT-A c.1203+507del - IntronicDeletion - 9/16 1
3-133479200-G-C c.1203+1027G>C - IntronicSNV - 9/16 2
3-133479230-A-G c.1203+1057A>G - IntronicSNV - 9/16 1
3-133479230-A-T c.1203+1057A>T - IntronicSNV - 9/16 1
3-133479499-T-G c.1203+1326T>G - IntronicSNV - 9/16 1
3-133479626-C-T c.1203+1453C>T - IntronicSNV - 9/16 2
3-133480174-C-A c.1203+2001C>A - IntronicSNV - 9/16 1
3-133480174-C-G c.1203+2001C>G - IntronicSNV - 9/16 1
3-133480192-C-T c.1203+2019C>T - IntronicSNV - 9/16 4
3-133480458-T-A c.1203+2285T>A - IntronicSNV - 9/16 1
3-133480817-A-G c.1204-2209A>G - IntronicSNV - 9/16 2
3-133481128-T-C c.1204-1898T>C - IntronicSNV - 9/16 3
3-133481216-C-A c.1204-1810C>A - IntronicSNV - 9/16 1
3-133481718-C-T c.1204-1308C>T - IntronicSNV - 9/16 1
3-133482870-G-A c.1204-156G>A - IntronicSNV - 9/16 4
3-133482889-T-G c.1204-137T>G - IntronicSNV - 9/16 2
3-133483028-T-A c.1206T>A p.N402K Missense 10/17 - 1
3-133483028-T-G c.1206T>G p.N402K Missense 10/17 - 1
3-133483030-GA-AC c.1208_1209delinsAC p.G403D Missense 10/17 - 1
3-133483030-G-C c.1208G>C p.G403A Missense 10/17 - 1
3-133483032-GA-CT c.1210_1211delinsCT p.E404L Missense 10/17 - 1
3-133483037-T-A c.1215T>A p.A405= Synonymous 10/17 - 1
3-133483037-T-C c.1215T>C p.A405= Synonymous 10/17 - 1
3-133483037-T-G c.1215T>G p.A405= Synonymous 10/17 - 1
3-133483038-GA-CG c.1216_1217delinsCG p.D406R Missense 10/17 - 1
3-133483039-A-C c.1217A>C p.D406A Missense 10/17 - 1
3-133483041-G-A c.1219G>A p.A407T Missense 10/17 - 1
3-133483042-C-G c.1220C>G p.A407G Missense 10/17 - 2
3-133483042-C-T c.1220C>T p.A407V Missense 10/17 - 1
3-133483043-C-T c.1221C>T p.A407= Synonymous 10/17 - 2
3-133483047-A-C c.1225A>C p.S409R Missense 10/17 - 1
3-133483047-AG-GA c.1225_1226delinsGA p.S409D Missense 10/17 - 1
3-133483047-AG-GC c.1225_1226delinsGC p.S409A Missense 10/17 - 1
3-133483048-G-C c.1226G>C p.S409T Missense 10/17 - 1
3-133483051-T-C c.1229T>C p.L410S Missense 10/17 - 1
3-133483053-G-A c.1231G>A p.D411N Missense 10/17 - 1
3-133483054-A-C c.1232A>C p.D411A Missense 10/17 - 1
3-133483056-GGA-AGC c.1234_1236delinsAGC p.G412S Missense 10/17 - 1
3-133483056-GGA-TGT c.1234_1236delinsTGT p.G412C Missense 10/17 - 1
3-133483058-A-C c.1236A>C p.G412= Synonymous 10/17 - 3
3-133483058-A-G c.1236A>G p.G412= Synonymous 10/17 - 3
3-133483058-A-T c.1236A>T p.G412= Synonymous 10/17 - 3
3-133483059-GG-AT c.1237_1238delinsAT p.G413M Missense 10/17 - 1
3-133483059-GGG-AGC c.1237_1239delinsAGC p.G413S Missense 10/17 - 1
3-133483059-GGG-TGT c.1237_1239delinsTGT p.G413C Missense 10/17 - 2
3-133483060-G-A c.1238G>A p.G413E Missense 10/17 - 1
3-133483059-GGGTTTGTCTACATAGC-G c.1240_1255del p.F414Afs*30 Frameshift 10/17 - 1
3-133483063-T-C c.1241T>C p.F414S Missense 10/17 - 1
3-133483063-T-G c.1241T>G p.F414C Missense 10/17 - 1
3-133483067-C-G c.1245C>G p.V415= Synonymous 10/17 - 1
3-133483069-A-T c.1247A>T p.Y416F Missense 10/17 - 1
3-133483071-A-C c.1249A>C p.I417L Missense 10/17 - 1
3-133483072-T-A c.1250T>A p.I417K Missense 10/17 - 1
3-133483075-C-A c.1253C>A p.A418E Missense 10/17 - 1
3-133483075-C-G c.1253C>G p.A418G Missense 10/17 - 1
3-133483075-C-T c.1253C>T p.A418V Missense 10/17 - 4
3-133483076-G-A c.1254G>A p.A418= Synonymous 10/17 - 1
3-133483077-GG-AA c.1255_1256delinsAA p.G419N Missense 10/17 - 1
3-133483078-G-C c.1256G>C p.G419A Missense 10/17 - 1
3-133483079-C-A c.1257C>A p.G419= Synonymous 10/17 - 1
3-133483079-C-G c.1257C>G p.G419= Synonymous 10/17 - 1
3-133483079-C-T c.1257C>T p.G419= Synonymous 10/17 - 1
3-133483083-T-C c.1261T>C p.C421R Missense 10/17 - 1
3-133483083-T-G c.1261T>G p.C421G Missense 10/17 - 1
3-133483083-TG-GC c.1261_1262delinsGC p.C421A Missense 10/17 - 5
3-133483086-G-A c.1264G>A p.G422S Missense 10/17 - 1
3-133483086-GG-AC c.1264_1265delinsAC p.G422T Missense 10/17 - 1
3-133483087-G-A c.1265G>A p.G422D Missense 10/17 - 1
3-133483088-T-C c.1266T>C p.G422= Synonymous 10/17 - 1
3-133483089-C-T c.1267C>T p.L423= Synonymous 10/17 - 1
3-133483091-G-A c.1269G>A p.L423= Synonymous 10/17 - 1
3-133483091-G-C c.1269G>C p.L423= Synonymous 10/17 - 1
3-133483091-G-T c.1269G>T p.L423= Synonymous 10/17 - 1
3-133483095-C-T c.1273C>T p.P425S Missense 10/17 - 2
3-133483096-C-A c.1274C>A p.P425H Missense 10/17 - 1
3-133483096-CTGTCTTGGCAGAAAACTACAATAG-C c.1276_1297+2del - SpliceDonorDeletion 10/17 10/16 1
3-133483098-G-A c.1276G>A p.V426I Missense 10/17 - 1
3-133483098-G-T c.1276G>T p.V426F Missense 10/17 - 1
3-133483099-T-C c.1277T>C p.V426A Missense 10/17 - 1
3-133483100-C-T c.1278C>T p.V426= Synonymous 10/17 - 1
3-133483101-TT-GG c.1279_1280delinsGG p.L427G Missense 10/17 - 1
3-133483104-G-T c.1282G>T p.A428S Missense 10/17 - 1
3-133483105-C-G c.1283C>G p.A428G Missense 10/17 - 1
3-133483105-C-T c.1283C>T p.A428V Missense 10/17 - 1
3-133483107-G-A c.1285G>A p.E429K Missense 10/17 - 1
3-133483107-GA-TC c.1285_1286inv p.E429S Missense 10/17 - 1
3-133483108-A-C c.1286A>C p.E429A Missense 10/17 - 1
3-133483110-A-G c.1288A>G p.N430D Missense 10/17 - 1
3-133483116-AAT-TAA c.1294_1296delinsTAA p.N432* Nonsense 10/17 - 1
3-133483116-A-C c.1294A>C p.N432H Missense 10/17 - 1
3-133483117-A-T c.1295A>T p.N432I Missense 10/17 - 1
3-133483119-A-C c.1297A>C p.K433Q Missense 10/17 - 1
3-133483131-G-A c.1297+12G>A - IntronicSNV - 10/16 1
3-133483682-G-A c.1298-37G>A - IntronicSNV - 10/16 1
3-133483682-G-C c.1298-37G>C - IntronicSNV - 10/16 1
3-133483682-G-T c.1298-37G>T - IntronicSNV - 10/16 1
3-133483696-T-C c.1298-23T>C - IntronicSNV - 10/16 11
3-133483719-A-C c.1298A>C p.K433T Missense 11/17 - 1
3-133483719-A-G c.1298A>G p.K433R Missense 11/17 - 1
3-133483719-AG-GC c.1298_1299delinsGC p.K433S Missense 11/17 - 1
3-133483720-G-C c.1299G>C p.K433N Missense 11/17 - 1
3-133483720-G-T c.1299G>T p.K433N Missense 11/17 - 1
3-133483721-AG-GC c.1300_1301delinsGC p.S434A Missense 11/17 - 1
3-133483722-G-A c.1301G>A p.S434N Missense 11/17 - 1
3-133483722-G-C c.1301G>C p.S434T Missense 11/17 - 1
3-133483724-G-A c.1303G>A p.D435N Missense 11/17 - 3
3-133483727-A-G c.1306A>G p.N436D Missense 11/17 - 1
3-133483728-A-G c.1307A>G p.N436S Missense 11/17 - 2
3-133483729-T-C c.1308T>C p.N436= Synonymous 11/17 - 1
3-133483730-T-C c.1309T>C p.C437R Missense 11/17 - 3
3-133483730-T-G c.1309T>G p.C437G Missense 11/17 - 1
3-133483730-TG-GC c.1309_1310delinsGC p.C437A Missense 11/17 - 1
3-133483731-G-T c.1310G>T p.C437F Missense 11/17 - 3
3-133483732-T-C c.1311T>C p.C437= Synonymous 11/17 - 1
3-133483733-G-A c.1312G>A p.E438K Missense 11/17 - 2
3-133483733-GAG-TGT c.1312_1314delinsTGT p.E438C Missense 11/17 - 1
3-133483735-G-C c.1314G>C p.E438D Missense 11/17 - 1
3-133483735-G-T c.1314G>T p.E438D Missense 11/17 - 1
3-133483736-G-A c.1315G>A p.D439N Missense 11/17 - 3
3-133483736-GA-TG c.1315_1316delinsTG p.D439C Missense 11/17 - 1
3-133483736-G-T c.1315G>T p.D439Y Missense 11/17 - 1
3-133483737-A-C c.1316A>C p.D439A Missense 11/17 - 1
3-133483740-C-T c.1319C>T p.T440I Missense 11/17 - 3
3-133483741-A-C c.1320A>C p.T440= Synonymous 11/17 - 1
3-133483743-C-T c.1322C>T p.P441L Missense 11/17 - 3
3-133483744-A-C c.1323A>C p.P441= Synonymous 11/17 - 1
3-133483744-A-G c.1323A>G p.P441= Synonymous 11/17 - 2
3-133483744-A-T c.1323A>T p.P441= Synonymous 11/17 - 1
3-133483745-G-A c.1324G>A p.E442K Missense 11/17 - 1
3-133483748-G-A c.1327G>A p.A443T Missense 11/17 - 1
3-133483748-GCA-TGT c.1327_1329delinsTGT p.A443C Missense 11/17 - 1
3-133483749-C-T c.1328C>T p.A443V Missense 11/17 - 2
3-133483753-T-G c.1330+2T>G - IntronicSNV - 11/16 1
3-133483887-T-A c.1330+136T>A - IntronicSNV - 11/16 1
3-133483936-CACAGGA-C c.1330+185_1330+190del - IntronicDeletion - 11/16 1
3-133484029-G-A c.1330+278G>A - IntronicSNV - 11/16 54
3-133484188-C-T c.1330+437C>T - IntronicSNV - 11/16 6
3-133484712-G-A c.1331-410G>A - IntronicSNV - 11/16 5
3-133484712-G-T c.1331-410G>T - IntronicSNV - 11/16 5
3-133484985-C-G c.1331-137C>G - IntronicSNV - 11/16 1
3-133484988-A-T c.1331-134A>T - IntronicSNV - 11/16 1
3-133485125-A-T c.1334A>T p.Y445F Missense 12/17 - 1
3-133485127-T-A c.1336T>A p.F446I Missense 12/17 - 3
3-133485127-T-C c.1336T>C p.F446L Missense 12/17 - 1
3-133485129-T-A c.1338T>A p.F446L Missense 12/17 - 1
3-133485129-T-G c.1338T>G p.F446L Missense 12/17 - 1
3-133485133-A-G c.1342A>G p.I448V Missense 12/17 - 37
3-133485136-G-A c.1345G>A p.A449T Missense 12/17 - 1
3-133485136-G-T c.1345G>T p.A449S Missense 12/17 - 1
3-133485137-C-A c.1346C>A p.A449E Missense 12/17 - 1
3-133485137-C-T c.1346C>T p.A449V Missense 12/17 - 1
3-133485139-G-A c.1348G>A p.V450M Missense 12/17 - 3
3-133485142-G-A c.1351G>A p.V451M Missense 12/17 - 2
3-133485143-T-C c.1352T>C p.V451A Missense 12/17 - 1
3-133485147-G-A c.1356G>A p.K452= Synonymous 12/17 - 3
3-133485147-G-C c.1356G>C p.K452N Missense 12/17 - 1
3-133485147-G-T c.1356G>T p.K452N Missense 12/17 - 1
3-133485148-A-T c.1357A>T p.K453* Nonsense 12/17 - 1
3-133485151-T-C c.1360T>C p.S454P Missense 12/17 - 1
3-133485151-TCA-GAC c.1360_1362delinsGAC p.S454D Missense 12/17 - 1
3-133485151-T-G c.1360T>G p.S454A Missense 12/17 - 5
3-133485154-G-C c.1363G>C p.A455P Missense 12/17 - 1
3-133485154-G-T c.1363G>T p.A455S Missense 12/17 - 2
3-133485155-C-T c.1364C>T p.A455V Missense 12/17 - 4
3-133485157-TC-AA c.1366_1367delinsAA p.S456N Missense 12/17 - 1
3-133485157-TC-CT c.1366_1367delinsCT p.S456L Missense 12/17 - 1
3-133485158-C-T c.1367C>T p.S456F Missense 12/17 - 1
3-133485160-G-A c.1369G>A p.D457N Missense 12/17 - 1
3-133485160-G-C c.1369G>C p.D457H Missense 12/17 - 1
3-133485162-C-A c.1371C>A p.D457E Missense 12/17 - 1
3-133485162-C-G c.1371C>G p.D457E Missense 12/17 - 1
3-133485163-C-A c.1372C>A p.L458I Missense 12/17 - 1
3-133485164-T-A c.1373T>A p.L458H Missense 12/17 - 1
3-133485165-C-A c.1374C>A p.L458= Synonymous 12/17 - 1
3-133485165-C-G c.1374C>G p.L458= Synonymous 12/17 - 1
3-133485165-C-T c.1374C>T p.L458= Synonymous 12/17 - 3
3-133485166-ACC-GAG c.1375_1377delinsGAG p.T459E Missense 12/17 - 1
3-133485166-A-T c.1375A>T p.T459S Missense 12/17 - 1
3-133485167-C-G c.1376C>G p.T459S Missense 12/17 - 1
3-133485170-GG-TT c.1379_1380delinsTT p.W460F Missense 12/17 - 1
3-133485172-G-A c.1381G>A p.D461N Missense 12/17 - 2
3-133485175-AA-GC c.1384_1385delinsGC p.N462A Missense 12/17 - 2
3-133485177-T-C c.1386T>C p.N462= Synonymous 12/17 - 1
3-133485178-C-A c.1387C>A p.L463M Missense 12/17 - 4
3-133485178-CTG-TTT c.1387_1389delinsTTT p.L463F Missense 12/17 - 1
3-133485181-A-C c.1390A>C p.K464Q Missense 12/17 - 1
3-133485183-A-G c.1392A>G p.K464= Synonymous 12/17 - 1
3-133485189-G-A c.1398G>A p.K466= Synonymous 12/17 - 2
3-133485190-AA-GC c.1399_1400delinsGC p.K467A Missense 12/17 - 1
3-133485194-CCTG-C c.1405_1407del p.C469del InFrameDeletion 12/17 - 1
3-133485196-T-C c.1405T>C p.C469R Missense 12/17 - 2
3-133485197-G-A c.1406G>A p.C469Y Missense 12/17 - 1
3-133485198-C-T c.1407C>T p.C469= Synonymous 12/17 - 1
3-133485202-A-G c.1411A>G p.T471A Missense 12/17 - 1
3-133485202-A-T c.1411A>T p.T471S Missense 12/17 - 1
3-133485203-C-T c.1412C>T p.T471M Missense 12/17 - 4
3-133485206-C-G c.1415C>G p.A472G Missense 12/17 - 1
3-133485208-G-T c.1417G>T p.V473F Missense 12/17 - 1
3-133485211-GG-CC c.1420_1421inv p.G474P Missense 12/17 - 1
3-133485212-G-A c.1421G>A p.G474D Missense 12/17 - 2
3-133485214-AGA-TGG c.1423_1425delinsTGG p.R475W Missense 12/17 - 1
3-133485215-G-A c.1424G>A p.R475K Missense 12/17 - 2
3-133485215-G-C c.1424G>C p.R475T Missense 12/17 - 4
3-133485215-G-T c.1424G>T p.R475I Missense 12/17 - 1
3-133485219-C-A c.1428C>A p.T476= Synonymous 12/17 - 2
3-133485219-C-G c.1428C>G p.T476= Synonymous 12/17 - 2
3-133485219-C-T c.1428C>T p.T476= Synonymous 12/17 - 2
3-133485220-G-A c.1429G>A p.A477T Missense 12/17 - 7
3-133485220-G-C c.1429G>C p.A477P Missense 12/17 - 3
3-133485220-G-T c.1429G>T p.A477S Missense 12/17 - 1
3-133485222-T-C c.1431T>C p.A477= Synonymous 12/17 - 1
3-133485224-G-C c.1433G>C p.G478A Missense 12/17 - 1
3-133485227-G-A c.1436G>A p.W479* Nonsense 12/17 - 2
3-133485228-G-A c.1437G>A p.W479* Nonsense 12/17 - 3
3-133485228-G-GT c.1437_1438insT p.N480* Nonsense 12/17 - 1
3-133485228-G-GA c.1439dup p.N480Kfs*10 Frameshift 12/17 - 1
3-133485234-C-T c.1443C>T p.I481= Synonymous 12/17 - 1
3-133485235-C-A c.1444C>A p.P482T Missense 12/17 - 1
3-133485235-C-T c.1444C>T p.P482S Missense 12/17 - 6
3-133485236-C-A c.1445C>A p.P482H Missense 12/17 - 1
3-133485236-C-T c.1445C>T p.P482L Missense 12/17 - 5
3-133485237-C-T c.1446C>T p.P482= Synonymous 12/17 - 2
3-133485238-A-G c.1447A>G p.M483V Missense 12/17 - 1
3-133485239-T-A c.1448T>A p.M483K Missense 12/17 - 1
3-133485239-TG-GC c.1448_1449delinsGC p.M483S Missense 12/17 - 1
3-133485240-G-A c.1449G>A p.M483I Missense 12/17 - 6
3-133485240-G-C c.1449G>C p.M483I Missense 12/17 - 1
3-133485240-G-T c.1449G>T p.M483I Missense 12/17 - 1
3-133485242-G-C c.1451G>C p.G484A Missense 12/17 - 1
3-133485244-C-A c.1453C>A p.L485M Missense 12/17 - 1
3-133485247-C-T c.1456C>T p.L486F Missense 12/17 - 3
3-133485254-A-G c.1463A>G p.N488S Missense 12/17 - 1
3-133485254-A-T c.1463A>T p.N488I Missense 12/17 - 1
3-133485257-A-C c.1466A>C p.K489T Missense 12/17 - 1
3-133485258-G-A c.1467G>A p.K489= Synonymous 12/17 - 1
3-133485258-G-C c.1467G>C p.K489N Missense 12/17 - 3
3-133485258-G-T c.1467G>T p.K489N Missense 12/17 - 3
3-133485262-AAC-TAA c.1471_1473delinsTAA p.N491* Nonsense 12/17 - 2
3-133485263-A-C c.1472A>C p.N491T Missense 12/17 - 1
3-133485263-A-G c.1472A>G p.N491S Missense 12/17 - 2
3-133485263-A-AC c.1474dup p.H492Pfs*5 Frameshift 12/17 - 1
3-133485265-C-CA c.1475dup p.H492Qfs*5 Frameshift 12/17 - 1
3-133485268-T-A c.1477T>A p.C493S Missense 12/17 - 1
3-133485269-G-C c.1478G>C p.C493S Missense 12/17 - 1
3-133485271-AGA-CAT c.1480_1482delinsCAT p.R494H Missense 12/17 - 1
3-133485273-A-C c.1482A>C p.R494S Missense 12/17 - 1
3-133485273-A-T c.1482A>T p.R494S Missense 12/17 - 1
3-133485275-T-C c.1484T>C p.F495S Missense 12/17 - 1
3-133485371-G-C c.1486+94G>C - IntronicSNV - 12/16 3
3-133485371-G-T c.1486+94G>T - IntronicSNV - 12/16 1
3-133485454-A-G c.1486+177A>G - IntronicSNV - 12/16 3
3-133486093-G-A c.1487-780G>A - IntronicSNV - 12/16 1
3-133486875-G-A c.1489G>A p.E497K Missense 13/17 - 1
3-133486875-G-T c.1489G>T p.E497* Nonsense 13/17 - 1
3-133486877-A-C c.1491A>C p.E497D Missense 13/17 - 1
3-133486877-A-T c.1491A>T p.E497D Missense 13/17 - 1
3-133486878-T-A c.1492T>A p.F498I Missense 13/17 - 1
3-133486881-TT-GC c.1495_1496delinsGC p.F499A Missense 13/17 - 1
3-133486883-C-T c.1497C>T p.F499= Synonymous 13/17 - 1
3-133486884-AG-CC c.1498_1499delinsCC p.S500P Missense 13/17 - 1
3-133486884-AG-CT c.1498_1499inv p.S500L Missense 13/17 - 1
3-133486884-AG-GC c.1498_1499delinsGC p.S500A Missense 13/17 - 1
3-133486884-A-T c.1498A>T p.S500C Missense 13/17 - 1
3-133486888-A-C c.1502A>C p.E501A Missense 13/17 - 2
3-133486889-A-C c.1503A>C p.E501D Missense 13/17 - 1
3-133486890-GGT-TGA c.1504_1506delinsTGA p.G502* Nonsense 13/17 - 1
3-133486891-G-T c.1505G>T p.G502V Missense 13/17 - 1
3-133486891-GT-AG c.1505_1506delinsAG p.G502E Missense 13/17 - 1
3-133486895-T-C c.1509T>C p.C503= Synonymous 13/17 - 2
3-133486901-T-A c.1515T>A p.P505= Synonymous 13/17 - 1
3-133486901-T-C c.1515T>C p.P505= Synonymous 13/17 - 1
3-133486901-T-G c.1515T>G p.P505= Synonymous 13/17 - 1
3-133486903-G-C c.1517G>C p.G506A Missense 13/17 - 1
3-133486910-G-A c.1524G>A p.K508= Synonymous 13/17 - 1
3-133486911-AA-GC c.1525_1526delinsGC p.K509A Missense 13/17 - 1
3-133486914-G-C c.1528G>C p.D510H Missense 13/17 - 2
3-133486915-A-C c.1529A>C p.D510A Missense 13/17 - 1
3-133486917-TC-AA c.1531_1532delinsAA p.S511N Missense 13/17 - 1
3-133486919-C-T c.1533C>T p.S511= Synonymous 13/17 - 1
3-133486920-AG-CT c.1534_1535inv p.S512L Missense 13/17 - 1
3-133486923-C-A c.1537C>A p.L513I Missense 13/17 - 1
3-133486926-TG-AC c.1540_1541delinsAC p.C514T Missense 13/17 - 1
3-133486926-TG-GC c.1540_1541delinsGC p.C514A Missense 13/17 - 1
3-133486927-G-T c.1541G>T p.C514F Missense 13/17 - 1
3-133486930-A-G c.1544A>G p.K515R Missense 13/17 - 1
3-133486930-A-T c.1544A>T p.K515M Missense 13/17 - 1
3-133486932-CT-GC c.1546_1547delinsGC p.L516A Missense 13/17 - 1
3-133486932-CTG-TTT c.1546_1548delinsTTT p.L516F Missense 13/17 - 1
3-133486934-G-A c.1548G>A p.L516= Synonymous 13/17 - 1
3-133486935-T-A c.1549T>A p.C517S Missense 13/17 - 2
3-133486935-T-C c.1549T>C p.C517R Missense 13/17 - 1
3-133486935-TG-AC c.1549_1550delinsAC p.C517T Missense 13/17 - 2
3-133486935-TG-GC c.1549_1550delinsGC p.C517A Missense 13/17 - 1
3-133486936-G-C c.1550G>C p.C517S Missense 13/17 - 1
3-133486936-G-A c.1550G>A p.C517Y Missense 13/17 - 1
3-133486940-G-A c.1554G>A p.M518I Missense 13/17 - 1
3-133486941-G-A c.1555G>A p.G519S Missense 13/17 - 2
3-133486942-G-A c.1556G>A p.G519D Missense 13/17 - 1
3-133486942-G-C c.1556G>C p.G519A Missense 13/17 - 1
3-133486947-GG-AC c.1561_1562delinsAC p.G521T Missense 13/17 - 1
3-133486948-G-A c.1562G>A p.G521D Missense 13/17 - 1
3-133486949-C-T c.1563C>T p.G521= Synonymous 13/17 - 1
3-133486950-C-A c.1564C>A p.L522I Missense 13/17 - 1
3-133486956-C-T c.1570C>T p.L524= Synonymous 13/17 - 1
3-133486958-G-A c.1572G>A p.L524= Synonymous 13/17 - 1
3-133486958-G-C c.1572G>C p.L524= Synonymous 13/17 - 13
3-133486958-G-T c.1572G>T p.L524= Synonymous 13/17 - 11
3-133486959-T-C c.1573T>C p.C525R Missense 13/17 - 1
3-133486960-G-T c.1574G>T p.C525F Missense 13/17 - 1
3-133486965-CC-AT c.1579_1580delinsAT p.P527I Missense 13/17 - 1
3-133486965-CCC-ATG c.1579_1581delinsATG p.P527M Missense 13/17 - 1
3-133486969-A-C c.1583A>C p.N528T Missense 13/17 - 1
3-133486970-C-A c.1584C>A p.N528K Missense 13/17 - 2
3-133486970-C-T c.1584C>T p.N528= Synonymous 13/17 - 1
3-133486974-AA-GC c.1588_1589delinsGC p.K530A Missense 13/17 - 2
3-133486975-A-G c.1589A>G p.K530R Missense 13/17 - 1
3-133486976-A-G c.1590A>G p.K530= Synonymous 13/17 - 1
3-133486979-G-A c.1593G>A p.E531= Synonymous 13/17 - 1
3-133486980-G-A c.1594G>A p.G532R Missense 13/17 - 1
3-133486981-G-A c.1595G>A p.G532E Missense 13/17 - 2
3-133486981-G-C c.1595G>C p.G532A Missense 13/17 - 1
3-133486983-T-A c.1597T>A p.Y533N Missense 13/17 - 1
3-133486984-A-G c.1598A>G p.Y533C Missense 13/17 - 1
3-133486988-C-T c.1602C>T p.Y534= Synonymous 13/17 - 1
3-133486989-G-A c.1603G>A p.G535S Missense 13/17 - 3
3-133486989-G-C c.1603G>C p.G535R Missense 13/17 - 1
3-133486990-G-C c.1604G>C p.G535A Missense 13/17 - 1
3-133486992-TA-GC c.1606_1607delinsGC p.Y536A Missense 13/17 - 1
3-133486993-AC-TTATCGTA c.1607_1608delinsTTATCGTA p.Y536delinsFIV MultiAAMissense 13/17 - 1
3-133486993-A-TTATCGTACTTAT c.1607delinsTTATCGTACTTAT p.Y536delinsFIVLI MultiAAMissense 13/17 - 1
3-133486999-G-C c.1613G>C p.G538A Missense 13/17 - 1
3-133486999-G-T c.1613G>T p.G538V Missense 13/17 - 1
3-133486999-G-GC c.1614dup p.A539Rfs*7 Frameshift 13/17 - 1
3-133487000-C-A c.1614C>A p.G538= Synonymous 13/17 - 1
3-133487000-C-G c.1614C>G p.G538= Synonymous 13/17 - 1
3-133487000-C-T c.1614C>T p.G538= Synonymous 13/17 - 3
3-133487001-G-A c.1615G>A p.A539T Missense 13/17 - 10
3-133487001-G-T c.1615G>T p.A539S Missense 13/17 - 1
3-133487004-T-C c.1618T>C p.F540L Missense 13/17 - 1
3-133487006-C-A c.1620C>A p.F540L Missense 13/17 - 1
3-133487006-C-G c.1620C>G p.F540L Missense 13/17 - 1
3-133487005-T-C c.1619T>C p.F540S Missense 13/17 - 1
3-133487006-C-T c.1620C>T p.F540= Synonymous 13/17 - 5
3-133487022-C-A c.1622+14C>A - IntronicSNV - 13/16 2
3-133487022-C-T c.1622+14C>T - IntronicSNV - 13/16 2
3-133487621-C-G c.1622+613C>G - IntronicSNV - 13/16 1
3-133487811-AT-A c.1622+810del - IntronicDeletion - 13/16 1
3-133489353-T-C c.1624T>C p.C542R Missense 14/17 - 2
3-133489353-TG-AC c.1624_1625delinsAC p.C542T Missense 14/17 - 1
3-133489354-G-T c.1625G>T p.C542F Missense 14/17 - 1
3-133489356-C-G c.1627C>G p.L543V Missense 14/17 - 2
3-133489356-C-T c.1627C>T p.L543= Synonymous 14/17 - 3
3-133489356-CT-GC c.1627_1628delinsGC p.L543A Missense 14/17 - 4
3-133489358-G-A c.1629G>A p.L543= Synonymous 14/17 - 1
3-133489358-G-C c.1629G>C p.L543= Synonymous 14/17 - 1
3-133489358-G-T c.1629G>T p.L543= Synonymous 14/17 - 1
3-133489359-G-A c.1630G>A p.V544I Missense 14/17 - 1
3-133489362-G-A c.1633G>A p.E545K Missense 14/17 - 4
3-133489362-G-C c.1633G>C p.E545Q Missense 14/17 - 1
3-133489362-G-T c.1633G>T p.E545* Nonsense 14/17 - 1
3-133489363-A-C c.1634A>C p.E545A Missense 14/17 - 1
3-133489364-G-C c.1635G>C p.E545D Missense 14/17 - 1
3-133489364-G-T c.1635G>T p.E545D Missense 14/17 - 1
3-133489366-A-C c.1637A>C p.K546T Missense 14/17 - 1
3-133489366-A-G c.1637A>G p.K546R Missense 14/17 - 1
3-133489368-G-A c.1639G>A p.G547R Missense 14/17 - 1
3-133489368-G-C c.1639G>C p.G547R Missense 14/17 - 1
3-133489369-G-A c.1640G>A p.G547E Missense 14/17 - 7
3-133489369-G-C c.1640G>C p.G547A Missense 14/17 - 1
3-133489370-A-C c.1641A>C p.G547= Synonymous 14/17 - 1
3-133489370-A-G c.1641A>G p.G547= Synonymous 14/17 - 2
3-133489370-A-T c.1641A>T p.G547= Synonymous 14/17 - 1
3-133489371-G-A c.1642G>A p.D548N Missense 14/17 - 1
3-133489371-G-T c.1642G>T p.D548Y Missense 14/17 - 1
3-133489376-G-A c.1647G>A p.V549= Synonymous 14/17 - 2
3-133489376-G-C c.1647G>C p.V549= Synonymous 14/17 - 2
3-133489376-G-T c.1647G>T p.V549= Synonymous 14/17 - 2
3-133489377-G-A c.1648G>A p.A550T Missense 14/17 - 1
3-133489378-C-G c.1649C>G p.A550G Missense 14/17 - 1
3-133489383-G-A c.1654G>A p.V552M Missense 14/17 - 1
3-133489383-G-C c.1654G>C p.V552L Missense 14/17 - 1
3-133489383-G-T c.1654G>T p.V552L Missense 14/17 - 1
3-133489388-A-C c.1659A>C p.K553N Missense 14/17 - 1
3-133489388-A-G c.1659A>G p.K553= Synonymous 14/17 - 1
3-133489388-A-T c.1659A>T p.K553N Missense 14/17 - 1
3-133489389-C-T c.1660C>T p.H554Y Missense 14/17 - 1
3-133489390-A-G c.1661A>G p.H554R Missense 14/17 - 1
3-133489392-C-T c.1663C>T p.Q555* Nonsense 14/17 - 1
3-133489395-AC-TG c.1666_1667delinsTG p.T556C Missense 14/17 - 1
3-133489395-A-G c.1666A>G p.T556A Missense 14/17 - 1
3-133489396-C-T c.1667C>T p.T556I Missense 14/17 - 1
3-133489398-G-A c.1669G>A p.V557I Missense 14/17 - 1
3-133489398-G-C c.1669G>C p.V557L Missense 14/17 - 4
3-133489399-T-C c.1670T>C p.V557A Missense 14/17 - 1
3-133489401-C-A c.1672C>A p.P558T Missense 14/17 - 2
3-133489401-C-T c.1672C>T p.P558S Missense 14/17 - 4
3-133489405-A-T c.1676A>T p.Q559L Missense 14/17 - 1
3-133489408-A-C c.1679A>C p.N560T Missense 14/17 - 1
3-133489408-A-G c.1679A>G p.N560S Missense 14/17 - 1
3-133489409-C-T c.1680C>T p.N560= Synonymous 14/17 - 1
3-133489413-GGG-TGT c.1684_1686delinsTGT p.G562C Missense 14/17 - 1
3-133489413-GG-TA c.1684_1685delinsTA p.G562* Nonsense 14/17 - 1
3-133489414-G-A c.1685G>A p.G562E Missense 14/17 - 2
3-133489414-G-C c.1685G>C p.G562A Missense 14/17 - 1
3-133489414-GG-AC c.1685_1686delinsAC p.G562D Missense 14/17 - 1
3-133489414-G-T c.1685G>T p.G562V Missense 14/17 - 4
3-133489415-G-A c.1686G>A p.G562= Synonymous 14/17 - 1
3-133489415-G-C c.1686G>C p.G562= Synonymous 14/17 - 1
3-133489415-G-T c.1686G>T p.G562= Synonymous 14/17 - 1
3-133489416-G-A c.1687G>A p.G563R Missense 14/17 - 1
3-133489476-T-C c.1687+60T>C - IntronicSNV - 14/16 1
3-133489583-G-A c.1687+167G>A - IntronicSNV - 14/16 2
3-133490033-A-C c.1687+617A>C - IntronicSNV - 14/16 1
3-133491445-C-A c.1687+2029C>A - IntronicSNV - 14/16 1
3-133491445-C-T c.1687+2029C>T - IntronicSNV - 14/16 1
3-133492329-T-TTC c.1688-1947_1688-1946insCT - IntronicInsertion - 14/16 1
3-133492471-G-A c.1688-1806G>A - IntronicSNV - 14/16 1
3-133493827-T-C c.1688-450T>C - IntronicSNV - 14/16 3
3-133494238-C-A c.1688-39C>A - IntronicSNV - 14/16 1
3-133494277-G-A c.1688G>A p.G563E Missense 15/17 - 3
3-133494277-G-C c.1688G>C p.G563A Missense 15/17 - 1
3-133494277-G-GA c.1694dup p.N565Kfs*3 Frameshift 15/17 - 2
3-133494284-C-T c.1695C>T p.N565= Synonymous 15/17 - 3
3-133494285-C-T c.1696C>T p.P566S Missense 15/17 - 1
3-133494286-C-A c.1697C>A p.P566H Missense 15/17 - 2
3-133494288-G-A c.1699G>A p.D567N Missense 15/17 - 2
3-133494291-C-A c.1702C>A p.P568T Missense 15/17 - 1
3-133494292-C-T c.1703C>T p.P568L Missense 15/17 - 1
3-133494293-A-G c.1704A>G p.P568= Synonymous 15/17 - 1
3-133494295-G-C c.1706G>C p.W569S Missense 15/17 - 2
3-133494298-C-A c.1709C>A p.A570D Missense 15/17 - 17
3-133494302-G-A c.1713G>A p.K571= Synonymous 15/17 - 2
3-133494302-G-C c.1713G>C p.K571N Missense 15/17 - 1
3-133494302-G-T c.1713G>T p.K571N Missense 15/17 - 1
3-133494304-A-C c.1715A>C p.N572T Missense 15/17 - 1
3-133494306-C-A c.1717C>A p.L573M Missense 15/17 - 1
3-133494306-C-T c.1717C>T p.L573= Synonymous 15/17 - 3
3-133494308-G-A c.1719G>A p.L573= Synonymous 15/17 - 1
3-133494308-G-C c.1719G>C p.L573= Synonymous 15/17 - 6
3-133494308-G-T c.1719G>T p.L573= Synonymous 15/17 - 1
3-133494311-T-C c.1722T>C p.N574= Synonymous 15/17 - 1
3-133494312-G-A c.1723G>A p.E575K Missense 15/17 - 2
3-133494312-G-C c.1723G>C p.E575Q Missense 15/17 - 1
3-133494313-A-C c.1724A>C p.E575A Missense 15/17 - 1
3-133494315-AA-GC c.1726_1727delinsGC p.K576A Missense 15/17 - 1
3-133494320-C-CG c.1731_1732insG p.Y578Vfs*2 Frameshift 15/17 - 1
3-133494320-CTA-C c.1733_1734del p.Y578* Frameshift 15/17 - 1
3-133494321-T-TA c.1733dup p.Y578* Nonsense 15/17 - 1
3-133494322-A-G c.1733A>G p.Y578C Missense 15/17 - 1
3-133494323-T-A c.1734T>A p.Y578* Nonsense 15/17 - 1
3-133494323-T-G c.1734T>G p.Y578* Nonsense 15/17 - 1
3-133494324-G-C c.1735G>C p.E579Q Missense 15/17 - 2
3-133494325-A-G c.1736A>G p.E579G Missense 15/17 - 1
3-133494326-G-C c.1737G>C p.E579D Missense 15/17 - 2
3-133494326-G-T c.1737G>T p.E579D Missense 15/17 - 2
3-133494327-T-A c.1738T>A p.L580M Missense 15/17 - 1
3-133494329-TGC-T c.1740_1741del p.L580Ffs*4 Frameshift 15/17 - 1
3-133494330-C-T c.1741C>T p.L581= Synonymous 15/17 - 3
3-133494332-G-A c.1743G>A p.L581= Synonymous 15/17 - 2
3-133494332-G-C c.1743G>C p.L581= Synonymous 15/17 - 2
3-133494332-G-T c.1743G>T p.L581= Synonymous 15/17 - 2
3-133494333-T-C c.1744T>C p.C582R Missense 15/17 - 1
3-133494333-T-G c.1744T>G p.C582G Missense 15/17 - 2
3-133494334-G-A c.1745G>A p.C582Y Missense 15/17 - 1
3-133494334-G-T c.1745G>T p.C582F Missense 15/17 - 1
3-133494335-C-T c.1746C>T p.C582= Synonymous 15/17 - 1
3-133494338-T-C c.1749T>C p.L583= Synonymous 15/17 - 1
3-133494340-A-G c.1751A>G p.D584G Missense 15/17 - 2
3-133494342-G-A c.1753G>A p.G585S Missense 15/17 - 1
3-133494343-GT-AG c.1754_1755delinsAG p.G585E Missense 15/17 - 1
3-133494345-AC-TG c.1756_1757delinsTG p.T586C Missense 15/17 - 3
3-133494345-A-T c.1756A>T p.T586S Missense 15/17 - 2
3-133494348-AG-CC c.1759_1760delinsCC p.R587P Missense 15/17 - 1
3-133494348-AG-GC c.1759_1760delinsGC p.R587A Missense 15/17 - 2
3-133494349-G-A c.1760G>A p.R587K Missense 15/17 - 1
3-133494348-A-C c.1759A>C p.R587= Synonymous 15/17 - 1
3-133494350-G-A c.1761G>A p.R587= Synonymous 15/17 - 1
3-133494353-A-G c.1764A>G p.K588= Synonymous 15/17 - 1
3-133494354-C-T c.1765C>T p.P589S Missense 15/17 - 80
3-133494355-C-A c.1766C>A p.P589H Missense 15/17 - 4
3-133494355-C-T c.1766C>T p.P589L Missense 15/17 - 3
3-133494356-T-A c.1767T>A p.P589= Synonymous 15/17 - 2
3-133494356-T-C c.1767T>C p.P589= Synonymous 15/17 - 2
3-133494356-T-G c.1767T>G p.P589= Synonymous 15/17 - 2
3-133494358-T-G c.1769T>G p.V590G Missense 15/17 - 1
3-133494358-TG-AC c.1769_1770delinsAC p.V590D Missense 15/17 - 1
3-133494360-G-A c.1771G>A p.E591K Missense 15/17 - 1
3-133494362-G-A c.1773G>A p.E591= Synonymous 15/17 - 4
3-133494363-G-A c.1774G>A p.E592K Missense 15/17 - 4
3-133494363-G-C c.1774G>C p.E592Q Missense 15/17 - 1
3-133494369-G-A c.1780G>A p.A594T Missense 15/17 - 1
3-133494369-G-C c.1780G>C p.A594P Missense 15/17 - 1
3-133494370-C-T c.1781C>T p.A594V Missense 15/17 - 6
3-133494371-G-A c.1782G>A p.A594= Synonymous 15/17 - 7
3-133494371-G-C c.1782G>C p.A594= Synonymous 15/17 - 3
3-133494371-G-T c.1782G>T p.A594= Synonymous 15/17 - 4
3-133494374-C-T c.1785C>T p.N595= Synonymous 15/17 - 1
3-133494375-T-C c.1786T>C p.C596R Missense 15/17 - 1
3-133494376-G-T c.1787G>T p.C596F Missense 15/17 - 1
3-133494377-C-T c.1788C>T p.C596= Synonymous 15/17 - 2
3-133494378-C-G c.1789C>G p.H597D Missense 15/17 - 1
3-133494379-A-T c.1790A>T p.H597L Missense 15/17 - 1
3-133494381-CT-GC c.1792_1793delinsGC p.L598A Missense 15/17 - 1
3-133494384-G-A c.1795G>A p.A599T Missense 15/17 - 1
3-133494384-GC-TG c.1795_1796delinsTG p.A599C Missense 15/17 - 1
3-133494385-C-T c.1796C>T p.A599V Missense 15/17 - 1
3-133494387-AGA-TGT c.1798_1800delinsTGT p.R600C Missense 15/17 - 1
3-133494387-AG-GC c.1798_1799delinsGC p.R600A Missense 15/17 - 1
3-133494390-GC-CT c.1801_1802delinsCT p.A601L Missense 15/17 - 1
3-133494390-GCC-TAA c.1801_1803delinsTAA p.A601* Nonsense 15/17 - 2
3-133494390-GC-TT c.1801_1802delinsTT p.A601F Missense 15/17 - 1
3-133494391-C-G c.1802C>G p.A601G Missense 15/17 - 1
3-133494392-C-A c.1803C>A p.A601= Synonymous 15/17 - 1
3-133494392-C-G c.1803C>G p.A601= Synonymous 15/17 - 1
3-133494392-C-T c.1803C>T p.A601= Synonymous 15/17 - 2
3-133494394-C-A c.1805C>A p.P602Q Missense 15/17 - 1
3-133494394-C-T c.1805C>T p.P602L Missense 15/17 - 3
3-133494395-G-A c.1806G>A p.P602= Synonymous 15/17 - 3
3-133494395-G-C c.1806G>C p.P602= Synonymous 15/17 - 1
3-133494395-G-T c.1806G>T p.P602= Synonymous 15/17 - 1
3-133494396-A-G c.1807A>G p.N603D Missense 15/17 - 1
3-133494400-A-C c.1811A>C p.H604P Missense 15/17 - 1
3-133494402-G-C c.1813G>C p.A605P Missense 15/17 - 1
3-133494402-GC-TG c.1813_1814delinsTG p.A605C Missense 15/17 - 1
3-133494403-C-A c.1814C>A p.A605D Missense 15/17 - 1
3-133494403-C-G c.1814C>G p.A605G Missense 15/17 - 2
3-133494403-C-T c.1814C>T p.A605V Missense 15/17 - 1
3-133494405-G-A c.1816G>A p.V606M Missense 15/17 - 1
3-133494405-GTG-ATC c.1816_1818delinsATC p.V606I Missense 15/17 - 1
3-133494408-G-A c.1819G>A p.V607I Missense 15/17 - 2
3-133494411-ACA-TGT c.1822_1824inv p.T608C Missense 15/17 - 1
3-133494414-C-T c.1825C>T p.R609W Missense 15/17 - 3
3-133494415-G-A c.1826G>A p.R609Q Missense 15/17 - 5
3-133494418-A-C c.1829A>C p.K610T Missense 15/17 - 1
3-133494420-G-T c.1831G>T p.D611Y Missense 15/17 - 1
3-133494425-G-A c.1836G>A p.K612= Synonymous 15/17 - 1
3-133494426-G-A c.1837G>A p.E613K Missense 15/17 - 1
3-133494426-GA-AG c.1837_1838delinsAG p.E613R Missense 15/17 - 2
3-133494430-C-A c.1841C>A p.A614D Missense 15/17 - 1
3-133494430-C-G c.1841C>G p.A614G Missense 15/17 - 1
3-133494432-T-C c.1843T>C p.C615R Missense 15/17 - 1
3-133494432-TG-GC c.1843_1844delinsGC p.C615A Missense 15/17 - 1
3-133494434-C-G c.1845C>G p.C615W Missense 15/17 - 2
3-133494434-C-T c.1845C>T p.C615= Synonymous 15/17 - 4
3-133494435-G-A c.1846G>A p.V616I Missense 15/17 - 5
3-133494440-C-T c.1851C>T p.H617= Synonymous 15/17 - 1
3-133494441-AA-GC c.1852_1853delinsGC p.K618A Missense 15/17 - 1
3-133494442-A-G c.1853A>G p.K618R Missense 15/17 - 1
3-133494443-G-A c.1854G>A p.K618= Synonymous 15/17 - 1
3-133494443-G-C c.1854G>C p.K618N Missense 15/17 - 2
3-133494443-G-T c.1854G>T p.K618N Missense 15/17 - 2
3-133494444-A-C c.1855A>C p.I619L Missense 15/17 - 1
3-133494444-A-G c.1855A>G p.I619V Missense 15/17 - 1
3-133494444-A-T c.1855A>T p.I619L Missense 15/17 - 1
3-133494446-A-G c.1857A>G p.I619M Missense 15/17 - 1
3-133494447-T-C c.1858T>C p.L620= Synonymous 15/17 - 2
3-133494449-A-G c.1860A>G p.L620= Synonymous 15/17 - 1
3-133494450-C-T c.1861C>T p.R621C Missense 15/17 - 6
3-133494451-G-A c.1862G>A p.R621H Missense 15/17 - 1
3-133494453-C-A c.1864C>A p.Q622K Missense 15/17 - 1
3-133494453-C-T c.1864C>T p.Q622* Nonsense 15/17 - 1
3-133494454-A-G c.1865A>G p.Q622R Missense 15/17 - 1
3-133494456-C-A c.1867C>A p.Q623K Missense 15/17 - 5
3-133494457-A-C c.1868A>C p.Q623P Missense 15/17 - 1
3-133494459-C-T c.1870C>T p.Q624* Nonsense 15/17 - 1
3-133494461-G-A c.1872G>A p.Q624= Synonymous 15/17 - 1
3-133494529-C-A c.1872+68C>A - IntronicSNV - 15/16 3
3-133494849-T-C c.1872+388T>C - IntronicSNV - 15/16 1
3-133495017-T-C c.1872+556T>C - IntronicSNV - 15/16 2
3-133495383-T-G c.1873-510T>G - IntronicSNV - 15/16 1
3-133495461-A-G c.1873-432A>G - IntronicSNV - 15/16 3
3-133495901-T-A c.1881T>A p.F627L Missense 16/17 - 1
3-133495903-G-C c.1883G>C p.G628A Missense 16/17 - 2
3-133495903-G-T c.1883G>T p.G628V Missense 16/17 - 1
3-133495905-AG-CC c.1885_1886delinsCC p.S629P Missense 16/17 - 1
3-133495905-AG-TT c.1885_1886delinsTT p.S629F Missense 16/17 - 1
3-133495906-AG-A c.1886del p.S629Tfs*3 Frameshift 16/17 - 1
3-133495906-G-C c.1886G>C p.S629T Missense 16/17 - 1
3-133495908-AAC-TAA c.1888_1890delinsTAA p.N630* Nonsense 16/17 - 1
3-133495909-A-C c.1889A>C p.N630T Missense 16/17 - 1
3-133495910-C-T c.1890C>T p.N630= Synonymous 16/17 - 4
3-133495911-G-A c.1891G>A p.V631I Missense 16/17 - 3
3-133495917-G-A c.1897G>A p.D633N Missense 16/17 - 1
3-133495917-G-T c.1897G>T p.D633Y Missense 16/17 - 2
3-133495918-A-G c.1898A>G p.D633G Missense 16/17 - 1
3-133495919-C-A c.1899C>A p.D633E Missense 16/17 - 1
3-133495919-C-G c.1899C>G p.D633E Missense 16/17 - 1
3-133495920-T-G c.1900T>G p.C634G Missense 16/17 - 1
3-133495923-T-G c.1903T>G p.S635A Missense 16/17 - 1
3-133495924-C-T c.1904C>T p.S635L Missense 16/17 - 3
3-133495926-G-T c.1906G>T p.G636C Missense 16/17 - 3
3-133495927-G-T c.1907G>T p.G636V Missense 16/17 - 4
3-133495930-A-G c.1910A>G p.N637S Missense 16/17 - 1
3-133495932-T-A c.1912T>A p.F638I Missense 16/17 - 1
3-133495937-T-C c.1917T>C p.C639= Synonymous 16/17 - 1
3-133495938-TT-AG c.1918_1919delinsAG p.L640R Missense 16/17 - 1
3-133495941-T-C c.1921T>C p.F641L Missense 16/17 - 1
3-133495943-C-A c.1923C>A p.F641L Missense 16/17 - 1
3-133495943-C-G c.1923C>G p.F641L Missense 16/17 - 2
3-133495943-TCC-T c.1923_1924del p.F641Lfs*12 Frameshift 16/17 - 1
3-133495944-CG-TA c.1924_1925delinsTA p.R642* Nonsense 16/17 - 1
3-133495944-C-T c.1924C>T p.R642W Missense 16/17 - 2
3-133495945-G-A c.1925G>A p.R642Q Missense 16/17 - 2
3-133495948-C-T c.1928C>T p.S643L Missense 16/17 - 1
3-133495948-TCG-T c.1928_1929del p.S643* Frameshift 16/17 - 1
3-133495949-G-A c.1929G>A p.S643= Synonymous 16/17 - 5
3-133495949-G-C c.1929G>C p.S643= Synonymous 16/17 - 3
3-133495949-G-T c.1929G>T p.S643= Synonymous 16/17 - 3
3-133495950-G-T c.1930G>T p.E644* Nonsense 16/17 - 1
3-133495950-GAA-G c.1932_1933del p.E644Dfs*9 Frameshift 16/17 - 1
3-133495953-A-C c.1933A>C p.T645P Missense 16/17 - 3
3-133495953-A-G c.1933A>G p.T645A Missense 16/17 - 1
3-133495954-C-T c.1934C>T p.T645I Missense 16/17 - 6
3-133495955-C-CT c.1935_1936insT p.K646* Nonsense 16/17 - 1
3-133495956-A-G c.1936A>G p.K646E Missense 16/17 - 3
3-133495957-A-C c.1937A>C p.K646T Missense 16/17 - 1
3-133495962-C-T c.1942C>T p.L648F Missense 16/17 - 1
3-133495965-CT-TC c.1945_1946delinsTC p.L649S Missense 16/17 - 1
3-133495970-C-T c.1950C>T p.F650= Synonymous 16/17 - 1
3-133495971-AG-CA c.1951_1952delinsCA p.R651Q Missense 16/17 - 1
3-133495972-G-A c.1952G>A p.R651K Missense 16/17 - 1
3-133495972-G-C c.1952G>C p.R651T Missense 16/17 - 1
3-133495974-G-A c.1954G>A p.D652N Missense 16/17 - 1
3-133495974-G-C c.1954G>C p.D652H Missense 16/17 - 1
3-133495977-G-C c.1957G>C p.D653H Missense 16/17 - 1
3-133495981-C-G c.1961C>G p.T654R Missense 16/17 - 5
3-133495981-C-T c.1961C>T p.T654I Missense 16/17 - 2
3-133495982-A-C c.1962A>C p.T654= Synonymous 16/17 - 1
3-133495982-A-G c.1962A>G p.T654= Synonymous 16/17 - 1
3-133495982-A-T c.1962A>T p.T654= Synonymous 16/17 - 1
3-133495984-T-C c.1964T>C p.V655A Missense 16/17 - 1
3-133495986-T-G c.1966T>G p.C656G Missense 16/17 - 2
3-133495986-TG-AC c.1966_1967delinsAC p.C656T Missense 16/17 - 1
3-133495987-G-A c.1967G>A p.C656Y Missense 16/17 - 3
3-133495990-T-C c.1970T>C p.L657S Missense 16/17 - 1
3-133495992-G-T c.1972G>T p.A658S Missense 16/17 - 1
3-133495993-C-A c.1973C>A p.A658D Missense 16/17 - 1
3-133495993-C-G c.1973C>G p.A658G Missense 16/17 - 1
3-133495997-A-G c.1977A>G p.K659= Synonymous 16/17 - 1
3-133495998-C-G c.1978C>G p.L660V Missense 16/17 - 1
3-133495998-C-T c.1978C>T p.L660F Missense 16/17 - 2
3-133495998-CT-GC c.1978_1979delinsGC p.L660A Missense 16/17 - 1
3-133496001-C-T c.1981C>T p.H661Y Missense 16/17 - 4
3-133496001-CATGACAGAAACACAT-C c.1986_2000del p.D662_Y666del InFrameDeletion 16/17 - 1
3-133496006-C-T c.1986C>T p.D662= Synonymous 16/17 - 1
3-133496007-AGA-TGT c.1987_1989delinsTGT p.R663C Missense 16/17 - 1
3-133496008-G-A c.1988G>A p.R663K Missense 16/17 - 2
3-133496010-A-C c.1990A>C p.N664H Missense 16/17 - 1
3-133496013-ACA-TGT c.1993_1995inv p.T665C Missense 16/17 - 1
3-133496017-A-G c.1997A>G p.Y666C Missense 16/17 - 1
3-133496021-A-G c.2001A>G p.E667= Synonymous 16/17 - 1
3-133496024-A-G c.2004A>G p.K668= Synonymous 16/17 - 1
3-133496026-A-T c.2006A>T p.Y669F Missense 16/17 - 1
3-133496027-C-G c.2007C>G p.Y669* Nonsense 16/17 - 2
3-133496028-T-C c.2008T>C p.L670= Synonymous 16/17 - 1
3-133496028-T-G c.2008T>G p.L670V Missense 16/17 - 1
3-133496028-TT-AG c.2008_2009delinsAG p.L670R Missense 16/17 - 1
3-133496030-A-G c.2010A>G p.L670= Synonymous 16/17 - 1
3-133496031-GGA-AGC c.2011_2013delinsAGC p.G671S Missense 16/17 - 2
3-133496032-G-A c.2012G>A p.G671E Missense 16/17 - 18
3-133496032-G-C c.2012G>C p.G671A Missense 16/17 - 1
3-133496032-G-T c.2012G>T p.G671V Missense 16/17 - 5
3-133496033-A-C c.2013A>C p.G671= Synonymous 16/17 - 1
3-133496034-G-A c.2014G>A p.E672K Missense 16/17 - 3
3-133496035-A-C c.2015A>C p.E672A Missense 16/17 - 1
3-133496041-A-G c.2021A>G p.Y674C Missense 16/17 - 1
3-133496045-C-T c.2025C>T p.V675= Synonymous 16/17 - 1
3-133496048-G-A c.2028G>A p.K676= Synonymous 16/17 - 1
3-133496049-G-C c.2029G>C p.A677P Missense 16/17 - 1
3-133496049-G-T c.2029G>T p.A677S Missense 16/17 - 2
3-133496050-C-G c.2030C>G p.A677G Missense 16/17 - 3
3-133496050-CTGT-C c.2033_2035del p.V678del InFrameDeletion 16/17 - 1
3-133496053-T-C c.2033T>C p.V678A Missense 16/17 - 3
3-133496056-G-C c.2036G>C p.G679A Missense 16/17 - 1
3-133496056-G-T c.2036G>T p.G679V Missense 16/17 - 1
3-133496058-AA-GC c.2038_2039delinsGC p.N680A Missense 16/17 - 1
3-133496059-A-G c.2039A>G p.N680S Missense 16/17 - 7
3-133496060-C-T c.2040C>T p.N680= Synonymous 16/17 - 1
3-133496061-CT-GA c.2041_2042delinsGA p.L681E Missense 16/17 - 1
3-133496061-CTG-TTT c.2041_2043delinsTTT p.L681F Missense 16/17 - 2
3-133496061-CT-TC c.2041_2042delinsTC p.L681S Missense 16/17 - 1
3-133496062-T-C c.2042T>C p.L681P Missense 16/17 - 3
3-133496063-G-T c.2043G>T p.L681= Synonymous 16/17 - 1
3-133496064-AG-GC c.2044_2045delinsGC p.R682A Missense 16/17 - 1
3-133496065-G-T c.2045G>T p.R682I Missense 16/17 - 1
3-133496066-A-C c.2046A>C p.R682S Missense 16/17 - 1
3-133496066-A-T c.2046A>T p.R682S Missense 16/17 - 1
3-133496067-A-G c.2047A>G p.K683E Missense 16/17 - 1
3-133496068-A-G c.2048A>G p.K683R Missense 16/17 - 2
3-133496068-A-T c.2048A>T p.K683I Missense 16/17 - 1
3-133496071-G-A c.2051G>A p.C684Y Missense 16/17 - 1
3-133496072-C-T c.2052C>T p.C684= Synonymous 16/17 - 1
3-133496073-TC-AA c.2053_2054delinsAA p.S685N Missense 16/17 - 1
3-133496073-T-G c.2053T>G p.S685A Missense 16/17 - 1
3-133496076-AC-TG c.2056_2057delinsTG p.T686C Missense 16/17 - 1
3-133496080-C-A c.2060C>A p.S687* Nonsense 16/17 - 1
3-133496080-CA-TT c.2060_2061delinsTT p.S687F Missense 16/17 - 1
3-133496080-C-G c.2060C>G p.S687* Nonsense 16/17 - 1
3-133496080-C-T c.2060C>T p.S687L Missense 16/17 - 7
3-133496082-T-A c.2062T>A p.S688T Missense 16/17 - 2
3-133496553-T-C c.2062+471T>C - IntronicSNV - 16/16 2
3-133496553-T-G c.2062+471T>G - IntronicSNV - 16/16 2
3-133497435-CTG-TTT c.2068_2070delinsTTT p.L690F Missense 17/17 - 1
3-133497438-G-A c.2071G>A p.E691K Missense 17/17 - 1
3-133497438-GA-TC c.2071_2072inv p.E691S Missense 17/17 - 1
3-133497441-G-A c.2074G>A p.A692T Missense 17/17 - 1
3-133497444-T-G c.2077T>G p.C693G Missense 17/17 - 1
3-133497445-G-A c.2078G>A p.C693Y Missense 17/17 - 1
3-133497445-G-T c.2078G>T p.C693F Missense 17/17 - 1
3-133497447-A-G c.2080A>G p.T694A Missense 17/17 - 1
3-133497448-C-A c.2081C>A p.T694N Missense 17/17 - 1
3-133497448-CT-C c.2084del p.F695Sfs*15 Frameshift 17/17 - 1
3-133497451-T-C c.2084T>C p.F695S Missense 17/17 - 1
3-133497452-C-T c.2085C>T p.F695= Synonymous 17/17 - 4
3-133497453-C-T c.2086C>T p.R696C Missense 17/17 - 1
3-133497454-G-C c.2087G>C p.R696P Missense 17/17 - 1
3-133497455-T-A c.2088T>A p.R696= Synonymous 17/17 - 1
3-133497455-T-C c.2088T>C p.R696= Synonymous 17/17 - 1
3-133497455-T-G c.2088T>G p.R696= Synonymous 17/17 - 1
3-133497456-A-G c.2089A>G p.R697G Missense 17/17 - 1
3-133497460-C-T c.2093C>T p.P698L Missense 17/17 - 1
3-133497512-G-T c.*48G>T - 3-UTRSNV 17/17 - 1
3-133498741-A-G c.*1277A>G - IntergenicSNV 17/17 - 2
3-133498789-G-A c.*1325G>A - IntergenicSNV 17/17 - 1
3-133504246-T-G c.*6782T>G - IntergenicSNV 17/17 - 1
3-133508464-A-G c.*11000A>G - IntergenicSNV 17/17 - 6
3-133508464-A-T c.*11000A>T - IntergenicSNV 17/17 - 6