MSH3

MSH3 mutS homolog 3

Annotation transcript: NM_002439.5

2407 unique variant annotations were identified in 1153 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
5-79950546-C-CA c.1dup p.M1? CdsStartInsertion 1/24 - 1
5-79950547-A-G c.1A>G p.M1? Missense 1/24 - 1
5-79950548-T-G c.2T>G p.M1? Missense 1/24 - 1
5-79950549-TG-T c.3del p.M1? CdsStartDeletion 1/24 - 1
5-79950551-C-G c.5C>G p.S2C Missense 1/24 - 1
5-79950553-CGC-TGG c.7_9delinsTGG p.R3W Missense 1/24 - 1
5-79950553-C-T c.7C>T p.R3C Missense 1/24 - 3
5-79950556-CGG-AGC c.10_12delinsAGC p.R4S Missense 1/24 - 1
5-79950557-G-A c.11G>A p.R4Q Missense 1/24 - 1
5-79950560-A-C c.14A>C p.K5T Missense 1/24 - 2
5-79950562-C-T c.16C>T p.P6S Missense 1/24 - 4
5-79950565-G-A c.19G>A p.A7T Missense 1/24 - 2
5-79950566-C-A c.20C>A p.A7E Missense 1/24 - 3
5-79950566-C-T c.20C>T p.A7V Missense 1/24 - 1
5-79950567-G-A c.21G>A p.A7= Synonymous 1/24 - 6
5-79950569-C-T c.23C>T p.S8L Missense 1/24 - 1
5-79950571-G-A c.25G>A p.G9S Missense 1/24 - 1
5-79950572-G-A c.26G>A p.G9D Missense 1/24 - 2
5-79950575-G-T c.29G>T p.G10V Missense 1/24 - 1
5-79950577-C-G c.31C>G p.L11V Missense 1/24 - 1
5-79950579-C-A c.33C>A p.L11= Synonymous 1/24 - 5
5-79950579-C-G c.33C>G p.L11= Synonymous 1/24 - 6
5-79950579-C-T c.33C>T p.L11= Synonymous 1/24 - 6
5-79950580-G-A c.34G>A p.A12T Missense 1/24 - 1
5-79950580-G-C c.34G>C p.A12P Missense 1/24 - 1
5-79950580-GC-CA c.34_35delinsCA p.A12H Missense 1/24 - 1
5-79950580-GC-CT c.34_35delinsCT p.A12L Missense 1/24 - 2
5-79950580-GC-TA c.34_35delinsTA p.A12Y Missense 1/24 - 1
5-79950580-GCT-CAA c.34_36delinsCAA p.A12Q Missense 1/24 - 4
5-79950580-GC-TT c.34_35delinsTT p.A12F Missense 1/24 - 1
5-79950580-G-T c.34G>T p.A12S Missense 1/24 - 2
5-79950581-C-T c.35C>T p.A12V Missense 1/24 - 1
5-79950581-CT-AG c.35_36inv p.A12E Missense 1/24 - 2
5-79950583-GC-CT c.37_38delinsCT p.A13L Missense 1/24 - 1
5-79950583-GCC-TGG c.37_39delinsTGG p.A13W Missense 1/24 - 1
5-79950583-GC-TA c.37_38delinsTA p.A13Y Missense 1/24 - 1
5-79950584-C-A c.38C>A p.A13D Missense 1/24 - 1
5-79950586-T-G c.40T>G p.S14A Missense 1/24 - 1
5-79950587-C-T c.41C>T p.S14F Missense 1/24 - 1
5-79950589-AG-GC c.43_44delinsGC p.S15A Missense 1/24 - 1
5-79950590-G-A c.44G>A p.S15N Missense 1/24 - 1
5-79950591-C-T c.45C>T p.S15= Synonymous 1/24 - 1
5-79950593-C-A c.47C>A p.S16* Nonsense 1/24 - 2
5-79950593-C-G c.47C>G p.S16* Nonsense 1/24 - 2
5-79950593-C-T c.47C>T p.S16L Missense 1/24 - 1
5-79950595-G-C c.49G>C p.A17P Missense 1/24 - 1
5-79950595-GCC-CAA c.49_51delinsCAA p.A17Q Missense 1/24 - 1
5-79950595-GC-TG c.49_50delinsTG p.A17C Missense 1/24 - 1
5-79950596-C-G c.50C>G p.A17G Missense 1/24 - 1
5-79950597-C-A c.51C>A p.A17= Synonymous 1/24 - 1
5-79950597-C-G c.51C>G p.A17= Synonymous 1/24 - 1
5-79950597-C-T c.51C>T p.A17= Synonymous 1/24 - 1
5-79950598-C-A c.52C>A p.P18T Missense 1/24 - 1
5-79950599-C-T c.53C>T p.P18L Missense 1/24 - 3
5-79950601-G-C c.55G>C p.A19P Missense 1/24 - 3
5-79950602-C-G c.56C>G p.A19G Missense 1/24 - 1
5-79950602-CG-AC c.56_57delinsAC p.A19D Missense 1/24 - 1
5-79950603-G-A c.57G>A p.A19= Synonymous 1/24 - 4
5-79950603-G-C c.57G>C p.A19= Synonymous 1/24 - 3
5-79950603-G-T c.57G>T p.A19= Synonymous 1/24 - 3
5-79950604-AGG-CAT c.58_60delinsCAT p.R20H Missense 1/24 - 1
5-79950605-G-A c.59G>A p.R20K Missense 1/24 - 1
5-79950606-G-A c.60G>A p.R20= Synonymous 1/24 - 1
5-79950607-C-T c.61C>T p.Q21* Nonsense 1/24 - 1
5-79950608-A-G c.62A>G p.Q21R Missense 1/24 - 1
5-79950609-A-AGGCGGT c.64_65insGCGGTG p.Q21_A22insGG InFrameInsertion 1/24 - 1
5-79950610-G-A c.64G>A p.A22T Missense 1/24 - 1
5-79950610-G-C c.64G>C p.A22P Missense 1/24 - 1
5-79950610-G-T c.64G>T p.A22S Missense 1/24 - 2
5-79950611-C-A c.65C>A p.A22E Missense 1/24 - 1
5-79950611-C-T c.65C>T p.A22V Missense 1/24 - 1
5-79950613-G-A c.67G>A p.V23I Missense 1/24 - 2
5-79950613-G-T c.67G>T p.V23F Missense 1/24 - 1
5-79950616-TTG-ATC c.70_72delinsATC p.L24I Missense 1/24 - 1
5-79950617-T-G c.71T>G p.L24W Missense 1/24 - 1
5-79950618-G-C c.72G>C p.L24F Missense 1/24 - 2
5-79950618-G-T c.72G>T p.L24F Missense 1/24 - 2
5-79950619-AG-TA c.73_74delinsTA p.S25Y Missense 1/24 - 1
5-79950620-G-A c.74G>A p.S25N Missense 1/24 - 2
5-79950622-CCG-C c.76_77del p.R26Ifs*58 Frameshift 1/24 - 1
5-79950622-CG-AA c.76_77delinsAA p.R26K Missense 1/24 - 1
5-79950622-CGA-TGG c.76_78delinsTGG p.R26W Missense 1/24 - 1
5-79950622-CGA-TGT c.76_78delinsTGT p.R26C Missense 1/24 - 1
5-79950622-C-T c.76C>T p.R26* Nonsense 1/24 - 3
5-79950623-G-A c.77G>A p.R26Q Missense 1/24 - 5
5-79950623-G-C c.77G>C p.R26P Missense 1/24 - 1
5-79950623-G-T c.77G>T p.R26L Missense 1/24 - 1
5-79950625-T-C c.79T>C p.F27L Missense 1/24 - 1
5-79950625-TT-GC c.79_80delinsGC p.F27A Missense 1/24 - 1
5-79950627-C-A c.81C>A p.F27L Missense 1/24 - 1
5-79950627-C-G c.81C>G p.F27L Missense 1/24 - 1
5-79950628-T-G c.82T>G p.F28V Missense 1/24 - 1
5-79950631-C-A c.85C>A p.Q29K Missense 1/24 - 1
5-79950632-A-T c.86A>T p.Q29L Missense 1/24 - 1
5-79950634-TC-AA c.88_89delinsAA p.S30N Missense 1/24 - 2
5-79950635-C-T c.89C>T p.S30F Missense 1/24 - 1
5-79950640-G-A c.94G>A p.G32R Missense 1/24 - 1
5-79950640-G-C c.94G>C p.G32R Missense 1/24 - 1
5-79950641-G-A c.95G>A p.G32E Missense 1/24 - 3
5-79950641-GA-AC c.95_96delinsAC p.G32D Missense 1/24 - 1
5-79950653-C-T c.107C>T p.S36F Missense 1/24 - 5
5-79950655-A-C c.109A>C p.T37P Missense 1/24 - 1
5-79950656-C-A c.110C>A p.T37N Missense 1/24 - 1
5-79950656-C-T c.110C>T p.T37I Missense 1/24 - 2
5-79950655-AC-A c.111del p.S38Pfs*42 Frameshift 1/24 - 1
5-79950657-C-T c.111C>T p.T37= Synonymous 1/24 - 1
5-79950659-C-G c.113C>G p.S38C Missense 1/24 - 2
5-79950659-C-T c.113C>T p.S38F Missense 1/24 - 3
5-79950661-T-A c.115T>A p.S39T Missense 1/24 - 1
5-79950662-C-A c.116C>A p.S39Y Missense 1/24 - 1
5-79950663-C-A c.117C>A p.S39= Synonymous 1/24 - 1
5-79950663-C-G c.117C>G p.S39= Synonymous 1/24 - 1
5-79950663-C-T c.117C>T p.S39= Synonymous 1/24 - 1
5-79950665-C-T c.119C>T p.S40F Missense 1/24 - 2
5-79950667-A-C c.121A>C p.T41P Missense 1/24 - 2
5-79950667-A-G c.121A>G p.T41A Missense 1/24 - 2
5-79950668-C-T c.122C>T p.T41I Missense 1/24 - 2
5-79950670-G-A c.124G>A p.G42S Missense 1/24 - 1
5-79950670-G-T c.124G>T p.G42C Missense 1/24 - 1
5-79950671-G-A c.125G>A p.G42D Missense 1/24 - 1
5-79950675-A-C c.129A>C p.A43= Synonymous 1/24 - 1
5-79950675-A-G c.129A>G p.A43= Synonymous 1/24 - 2
5-79950675-A-T c.129A>T p.A43= Synonymous 1/24 - 1
5-79950676-G-A c.130G>A p.A44T Missense 1/24 - 1
5-79950677-C-A c.131C>A p.A44D Missense 1/24 - 1
5-79950677-C-G c.131C>G p.A44G Missense 1/24 - 1
5-79950679-G-A c.133G>A p.D45N Missense 1/24 - 1
5-79950679-G-C c.133G>C p.D45H Missense 1/24 - 1
5-79950679-G-T c.133G>T p.D45Y Missense 1/24 - 1
5-79950677-CCGACCAGGTGGACCCTGG-C c.134_151del p.D45_G50del InFrameDeletion 1/24 - 1
5-79950681-C-T c.135C>T p.D45= Synonymous 1/24 - 1
5-79950682-C-A c.136C>A p.Q46K Missense 1/24 - 1
5-79950683-A-G c.137A>G p.Q46R Missense 1/24 - 1
5-79950685-G-C c.139G>C p.V47L Missense 1/24 - 1
5-79950687-G-GT c.141_142insT p.D48* Nonsense 1/24 - 1
5-79950687-TGGACCCTGGCGCTGCAGCGGCTGCAGCGGCCGCAGCGGCCGCAGCGCCCCCAGCGCCCC-T c.141_199del p.D48Sfs*17 InFrameDeletion 1/24 - 1
5-79950689-AC-A c.146del p.P49Lfs*31 Frameshift 1/24 - 2
5-79950693-TG-T c.149del p.G50Afs*30 Frameshift 1/24 - 1
5-79950695-G-T c.149G>T p.G50V Missense 1/24 - 1
5-79950696-C-G c.150C>G p.G50= Synonymous 1/24 - 1
5-79950697-G-T c.151G>T p.A51S Missense 1/24 - 1
5-79950696-CGCTGCAGCGGCTGCAGCG-C c.153_170del p.A57_A62del InFrameDeletion 1/24 - 2
5-79950700-GCA-TGG c.154_156delinsTGG p.A52W Missense 1/24 - 1
5-79950700-GC-CA c.154_155delinsCA p.A52Q Missense 1/24 - 1
5-79950696-C-CGCTGCGGCG c.155_156insGGCGGCTGC p.A60_A62dup InFrameInsertion 1/24 - 1
5-79950701-C-T c.155C>T p.A52V Missense 1/24 - 1
5-79950699-TGCA-T c.156_158del p.A62del InFrameDeletion 1/24 - 2
5-79950703-G-A c.157G>A p.A53T Missense 1/24 - 1
5-79950703-GCG-TTT c.157_159delinsTTT p.A53F Missense 1/24 - 1
5-79950704-C-T c.158C>T p.A53V Missense 1/24 - 1
5-79950702-AGCGGCT-A c.159_164del p.A61_A62del InFrameDeletion 1/24 - 1
5-79950707-C-T c.161C>T p.A54V Missense 1/24 - 1
5-79950696-CGCTGCAGCG-C c.162_170del p.A60_A62del InFrameDeletion 1/24 - 6
5-79950699-TGCAGCGGCTGCAGCGGCC-T c.162_179del p.A57_A62del InFrameDeletion 1/24 - 17
5-79950706-GCTGCAGCGGCCGCAGCGGCCGCAGCGC-G c.162_188del p.A55_P63del InFrameDeletion 1/24 - 1
5-79950708-T-A c.162T>A p.A54= Synonymous 1/24 - 2
5-79950708-T-C c.162T>C p.A54= Synonymous 1/24 - 12
5-79950708-T-G c.162T>G p.A54= Synonymous 1/24 - 2
5-79950708-TGCAGCGGCCGCAGCGGCCGCAGCGCCCC-CG c.162_190delinsCG p.A57_A65del InFrameDeletion 1/24 - 1
5-79950709-G-A c.163G>A p.A55T Missense 1/24 - 1
5-79950709-TGCAGCGGCCGCAGCGGCCGCAGCGCCC-T c.163_189del p.A55_P63del InFrameDeletion 1/24 - 1
5-79950708-T-TGCCGCGGCC c.164_165insCGCGGCCGC p.A60_A62dup InFrameInsertion 1/24 - 2
5-79950708-T-TGCTGCGGCC c.164_165insTGCGGCCGC p.A60_A62dup InFrameInsertion 1/24 - 1
5-79950711-A-C c.165A>C p.A55= Synonymous 1/24 - 1
5-79950711-A-G c.165A>G p.A55= Synonymous 1/24 - 1
5-79950711-A-T c.165A>T p.A55= Synonymous 1/24 - 1
5-79950708-T-TGCAGAGGCC c.166_167insAGGCCGCAG p.A55_A56insEAA InFrameInsertion 1/24 - 1
5-79950712-G-A c.166G>A p.A56T Missense 1/24 - 1
5-79950713-C-G c.167C>G p.A56G Missense 1/24 - 1
5-79950713-C-T c.167C>T p.A56V Missense 1/24 - 3
5-79950711-AGCGGCC-A c.168_173del p.A61_A62del InFrameDeletion 1/24 - 1
5-79950711-AGCGGCCGCAGCG-A c.168_179del p.A59_A62del InFrameDeletion 1/24 - 1
5-79950711-AGCGGCCGCAGCGGCC-A c.168_182del p.A58_A62del InFrameDeletion 1/24 - 1
5-79950708-TGCAGCGGCCGCAGCGGCC-T c.169_186del p.A57_A62del InFrameDeletion 1/24 - 1
5-79950709-GCAGCGGCCGCAGCGGCCGCAGCGCCCC-G c.169_195del p.A57_A65del InFrameDeletion 1/24 - 3
5-79950715-G-A c.169G>A p.A57T Missense 1/24 - 2
5-79950715-G-C c.169G>C p.A57P Missense 1/24 - 28
5-79950715-GCCGCA-CCTCCT c.169_174delinsCCTCCT p.A57_A58delinsPP MultiAAMissense 1/24 - 1
5-79950716-C-T c.170C>T p.A57V Missense 1/24 - 1
5-79950714-GGCC-G c.171_173del p.A62del InFrameDeletion 1/24 - 2
5-79950714-GGCCGCA-G c.171_176del p.A61_A62del InFrameDeletion 1/24 - 1
5-79950717-C-A c.171C>A p.A57= Synonymous 1/24 - 2
5-79950710-C-CAGCGGCCGA c.172_173insAAGCGGCCG p.A57_A58insEAA InFrameInsertion 1/24 - 1
5-79950718-G-C c.172G>C p.A58P Missense 1/24 - 21
5-79950718-GCA-CCTCCT c.172_174delinsCCTCCT p.A58delinsPP MultiAAMissense 1/24 - 1
5-79950711-A-AGCGGCCGCC c.173_174insCGCGGCCGC p.A60_A62dup InFrameInsertion 1/24 - 2
5-79950717-CGCA-C c.174_176del p.A62del InFrameDeletion 1/24 - 1
5-79950720-A-C c.174A>C p.A58= Synonymous 1/24 - 2
5-79950720-A-G c.174A>G p.A58= Synonymous 1/24 - 2
5-79950720-A-T c.174A>T p.A58= Synonymous 1/24 - 2
5-79950721-G-A c.175G>A p.A59T Missense 1/24 - 1
5-79950722-C-T c.176C>T p.A59V Missense 1/24 - 1
5-79950723-G-GCCCCCAGC c.177_178insCCCCCAGC p.A60Pfs*23 Frameshift 1/24 - 2
5-79950708-TGCAGCGGCC-T c.178_186del p.A60_A62del InFrameDeletion 1/24 - 10
5-79950724-GCCG-CCCC c.178_181delinsCCCC p.A60_A61delinsPP MultiAAMissense 1/24 - 1
5-79950724-GCC-TAA c.178_180delinsTAA p.A60* Nonsense 1/24 - 1
5-79950724-G-GTCGCAGCGC c.178_179insTCGCAGCGC p.A60delinsVAAP MultiAAMissense 1/24 - 1
5-79950725-C-G c.179C>G p.A60G Missense 1/24 - 1
5-79950723-GGCC-G c.180_182del p.A62del InFrameDeletion 1/24 - 3
5-79950723-G-GGCCCGCAGC c.180_181insCGCAGCGCC p.A60_A61insRSA InFrameInsertion 1/24 - 1
5-79950726-C-A c.180C>A p.A60= Synonymous 1/24 - 2
5-79950726-C-CCCCA c.180_181insCCCA p.A61Pfs*25 Frameshift 1/24 - 1
5-79950726-C-G c.180C>G p.A60= Synonymous 1/24 - 2
5-79950727-G-C c.181G>C p.A61P Missense 1/24 - 5
5-79950724-G-GCCGCGGCGC c.182_183insGGCGCCCGC p.A61_P63dup InFrameInsertion 1/24 - 4
5-79950727-G-GCGCCCCCAGCGCCCC c.182_183insGCCCCCAGCGCCCCC p.A61_A62insPPAPP InFrameInsertion 1/24 - 1
5-79950728-C-G c.182C>G p.A61G Missense 1/24 - 2
5-79950726-C-CGCACCT c.183_184insCCTGCA p.A61_A62insPA InFrameInsertion 1/24 - 1
5-79950730-AGCG-A c.184_186del p.A62del InFrameDeletion 1/24 - 6
5-79950730-G-C c.184G>C p.A62P Missense 1/24 - 1
5-79950730-GCG-TGT c.184_186delinsTGT p.A62C Missense 1/24 - 1
5-79950730-G-T c.184G>T p.A62S Missense 1/24 - 2
5-79950726-C-CGCAGCACCT c.185_186insACCTGCAGC p.A61_P63dup InFrameInsertion 1/24 - 2
5-79950726-C-CGCAGCAGCACCT c.185_186insAGCACCTGCAGC p.A62_P63insAPAA InFrameInsertion 1/24 - 1
5-79950731-C-G c.185C>G p.A62G Missense 1/24 - 1
5-79950731-CG-AC c.185_186delinsAC p.A62D Missense 1/24 - 1
5-79950724-G-GCCGCAGCGGCCGCAGCGC c.186_187insGCCGCAGCGCCCGCAGCG p.A62_P63insAAAPAA InFrameInsertion 1/24 - 15
5-79950727-G-GCAGCGACCC c.186_187insACCCCAGCG p.A62_P63insTPA InFrameInsertion 1/24 - 1
5-79950732-G-A c.186G>A p.A62= Synonymous 1/24 - 1
5-79950732-G-C c.186G>C p.A62= Synonymous 1/24 - 1
5-79950732-G-GAGCGCAGCA c.186_187insAGCGCAGCA p.A62_P63insSAA InFrameInsertion 1/24 - 1
5-79950732-G-GGCAGCAGCACCTGCAGCA c.186_187insGCAGCAGCACCTGCAGCA p.A62_P63insAAAPAA InFrameInsertion 1/24 - 2
5-79950732-G-T c.186G>T p.A62= Synonymous 1/24 - 1
5-79950733-CCCC-GCCG c.187_190delinsGCCG p.P63_P64delinsAA MultiAAMissense 1/24 - 1
5-79950733-C-G c.187C>G p.P63A Missense 1/24 - 16
5-79950734-C-A c.188C>A p.P63H Missense 1/24 - 2
5-79950727-G-GCAGCGCCCGCAGCGCCCC c.189_190insGCAGCGCCCCCAGCGCCC p.P63_P64insAAPPAP InFrameInsertion 1/24 - 1
5-79950735-C-CAGGAGCGCA c.189_190insAGGAGCGCA p.P63_P64insRSA InFrameInsertion 1/24 - 1
5-79950735-C-CGCAGCACCT c.189_190insGCAGCACCT p.A61_P63dup InFrameInsertion 1/24 - 3
5-79950736-CCCA-C c.190_192del p.P64del InFrameDeletion 1/24 - 1
5-79950736-C-G c.190C>G p.P64A Missense 1/24 - 30
5-79950732-GC-G c.191del p.P64Qfs*16 Frameshift 1/24 - 1
5-79950738-A-C c.192A>C p.P64= Synonymous 1/24 - 1
5-79950738-A-G c.192A>G p.P64= Synonymous 1/24 - 1
5-79950738-A-T c.192A>T p.P64= Synonymous 1/24 - 1
5-79950739-AGCG-A c.193_195del p.A65del InFrameDeletion 1/24 - 2
5-79950739-G-C c.193G>C p.A65P Missense 1/24 - 2
5-79950739-G-T c.193G>T p.A65S Missense 1/24 - 1
5-79950740-C-G c.194C>G p.A65G Missense 1/24 - 1
5-79950727-GCAGCGCCCC-G c.195_203del p.P67_P69del InFrameDeletion 1/24 - 6
5-79950741-CGCCCCCAGCT-C c.195_204del p.A68Sfs*9 Frameshift 1/24 - 2
5-79950742-C-G c.196C>G p.P66A Missense 1/24 - 1
5-79950743-C-T c.197C>T p.P66L Missense 1/24 - 1
5-79950744-C-T c.198C>T p.P66= Synonymous 1/24 - 1
5-79950741-GCCCCCAGCT-G c.199_207del p.P67_P69del InFrameDeletion 1/24 - 19
5-79950745-C-G c.199C>G p.P67A Missense 1/24 - 10
5-79950738-A-AGCGCCCCCC c.200_201insCGCGCCCCC p.P67_P69dup InFrameInsertion 1/24 - 1
5-79950745-CCAGCTCCCG-C c.201_209del p.A68_A70del InFrameDeletion 1/24 - 1
5-79950749-C-ACGAGCT c.203delinsACGAGCT p.A68delinsDEL MultiAAMissense 1/24 - 1
5-79950727-G-GCAGCGCCCCCAGCGCCCCCAGCGCCCC c.203_204insGCCCCCAGCGCCCCCAGCGCCCCCAGC p.P69_A70insPAPPAPPAP InFrameInsertion 1/24 - 1
5-79950748-GCTCC-G c.204_207del p.A70Sfs*9 Frameshift 1/24 - 1
5-79950750-T-A c.204T>A p.A68= Synonymous 1/24 - 1
5-79950750-T-C c.204T>C p.A68= Synonymous 1/24 - 1
5-79950751-C-G c.205C>G p.P69A Missense 1/24 - 1
5-79950751-C-T c.205C>T p.P69S Missense 1/24 - 1
5-79950751-TCCC-T c.205_207del p.P69del InFrameDeletion 1/24 - 2
5-79950750-T-TCCTCCTGCA c.206_207insTCCTGCACC p.P67_P69dup InFrameInsertion 1/24 - 2
5-79950750-T-TCCTCCTGCACCTCCTGCACCTCCTGCA c.206_207insTCCTGCACCTCCTGCACCTCCTGCACC p.P69_A70insPAPPAPPAP InFrameInsertion 1/24 - 1
5-79950752-C-T c.206C>T p.P69L Missense 1/24 - 1
5-79950751-CCCG-C c.208_210del p.A70del InFrameDeletion 1/24 - 1
5-79950751-CCCGCCTTCCCG-C c.208_218del p.A70Pfs*11 Frameshift 1/24 - 1
5-79950754-G-A c.208G>A p.A70T Missense 1/24 - 1
5-79950754-G-C c.208G>C p.A70P Missense 1/24 - 1
5-79950755-C-T c.209C>T p.A70V Missense 1/24 - 1
5-79950757-T-A c.211T>A p.F71I Missense 1/24 - 1
5-79950759-C-A c.213C>A p.F71L Missense 1/24 - 1
5-79950760-C-T c.214C>T p.P72S Missense 1/24 - 2
5-79950761-C-G c.215C>G p.P72R Missense 1/24 - 1
5-79950761-C-T c.215C>T p.P72L Missense 1/24 - 3
5-79950763-C-T c.217C>T p.P73S Missense 1/24 - 1
5-79950764-C-A c.218C>A p.P73H Missense 1/24 - 1
5-79950766-C-T c.220C>T p.Q74* Nonsense 1/24 - 1
5-79950768-AGCTGC-A c.222_226del p.Q74Hfs*9 Frameshift 1/24 - 1
5-79950768-G-C c.222G>C p.Q74H Missense 1/24 - 1
5-79950768-G-T c.222G>T p.Q74H Missense 1/24 - 1
5-79950770-T-G c.224T>G p.L75R Missense 1/24 - 1
5-79950771-G-C c.225G>C p.L75= Synonymous 1/24 - 1
5-79950774-G-A c.228G>A p.P76= Synonymous 1/24 - 1
5-79950777-G-A c.231G>A p.P77= Synonymous 1/24 - 3
5-79950777-G-C c.231G>C p.P77= Synonymous 1/24 - 4
5-79950777-G-T c.231G>T p.P77= Synonymous 1/24 - 3
5-79950779-A-G c.233A>G p.H78R Missense 1/24 - 1
5-79950780-C-A c.234C>A p.H78Q Missense 1/24 - 1
5-79950780-C-G c.234C>G p.H78Q Missense 1/24 - 1
5-79950783-A-C c.237A>C p.I79= Synonymous 1/24 - 1
5-79950783-A-T c.237A>T p.I79= Synonymous 1/24 - 1
5-79950784-G-C c.237+1G>C - IntronicSNV - 1/23 1
5-79950789-T-G c.237+6T>G - IntronicSNV - 1/23 1
5-79950801-C-T c.237+18C>T - IntronicSNV - 1/23 1
5-79950859-G-T c.237+76G>T - IntronicSNV - 1/23 4
5-79951032-A-C c.237+249A>C - IntronicSNV - 1/23 1
5-79951032-A-G c.237+249A>G - IntronicSNV - 1/23 1
5-79951133-T-C c.237+350T>C - IntronicSNV - 1/23 16
5-79951280-T-A c.237+497T>A - IntronicSNV - 1/23 1
5-79951280-T-C c.237+497T>C - IntronicSNV - 1/23 1
5-79951382-A-G c.237+599A>G - IntronicSNV - 1/23 1
5-79951491-T-C c.237+708T>C - IntronicSNV - 1/23 1
5-79951496-G-T c.237+713G>T - IntronicSNV - 1/23 7
5-79952034-A-C c.238-196A>C - IntronicSNV - 1/23 6
5-79952034-A-G c.238-196A>G - IntronicSNV - 1/23 6
5-79952154-G-A c.238-76G>A - IntronicSNV - 1/23 6
5-79952165-C-G c.238-65C>G - IntronicSNV - 1/23 2
5-79952230-G-A c.238G>A p.A80T Missense 2/24 - 1
5-79952230-G-C c.238G>C p.A80P Missense 2/24 - 1
5-79952231-CT-AG c.239_240inv p.A80E Missense 2/24 - 1
5-79952233-A-C c.241A>C p.T81P Missense 2/24 - 1
5-79952234-C-A c.242C>A p.T81K Missense 2/24 - 2
5-79952238-A-C c.246A>C p.E82D Missense 2/24 - 1
5-79952238-A-T c.246A>T p.E82D Missense 2/24 - 1
5-79952240-T-C c.248T>C p.I83T Missense 2/24 - 1
5-79952244-C-A c.252C>A p.D84E Missense 2/24 - 1
5-79952244-C-G c.252C>G p.D84E Missense 2/24 - 1
5-79952245-AGA-CAT c.253_255delinsCAT p.R85H Missense 2/24 - 1
5-79952245-AGA-TGT c.253_255delinsTGT p.R85C Missense 2/24 - 1
5-79952245-A-T c.253A>T p.R85* Nonsense 2/24 - 1
5-79952246-G-A c.254G>A p.R85K Missense 2/24 - 1
5-79952245-A-C c.253A>C p.R85= Synonymous 2/24 - 1
5-79952247-A-G c.255A>G p.R85= Synonymous 2/24 - 1
5-79952249-G-C c.257G>C p.R86T Missense 2/24 - 1
5-79952246-GAAGA-G c.260_263del p.K87Rfs*14 Frameshift 2/24 - 1
5-79952255-A-G c.263A>G p.K88R Missense 2/24 - 1
5-79952256-G-C c.264G>C p.K88N Missense 2/24 - 1
5-79952256-G-T c.264G>T p.K88N Missense 2/24 - 1
5-79952258-G-T c.266G>T p.R89I Missense 2/24 - 1
5-79952260-C-A c.268C>A p.P90T Missense 2/24 - 3
5-79952260-CCA-TGT c.268_270delinsTGT p.P90C Missense 2/24 - 1
5-79952264-T-G c.272T>G p.L91W Missense 2/24 - 1
5-79952266-G-A c.274G>A p.E92K Missense 2/24 - 1
5-79952267-A-C c.275A>C p.E92A Missense 2/24 - 1
5-79952270-A-C c.278A>C p.N93T Missense 2/24 - 1
5-79952272-G-A c.280G>A p.D94N Missense 2/24 - 1
5-79952274-T-A c.282T>A p.D94E Missense 2/24 - 1
5-79952274-T-G c.282T>G p.D94E Missense 2/24 - 1
5-79952275-G-A c.283G>A p.G95R Missense 2/24 - 2
5-79952275-G-C c.283G>C p.G95R Missense 2/24 - 1
5-79952277-G-T c.285G>T p.G95= Synonymous 2/24 - 1
5-79952278-C-T c.286C>T p.P96S Missense 2/24 - 1
5-79952279-C-T c.287C>T p.P96L Missense 2/24 - 2
5-79952281-G-A c.289G>A p.V97I Missense 2/24 - 1
5-79952284-A-G c.292A>G p.K98E Missense 2/24 - 1
5-79952293-G-A c.301G>A p.V101I Missense 2/24 - 1
5-79952293-GTA-ATG c.301_303delinsATG p.V101M Missense 2/24 - 2
5-79952294-GT-G c.302del p.V101Efs*25 Frameshift 2/24 - 1
5-79952294-T-A c.302T>A p.V101E Missense 2/24 - 1
5-79952294-T-G c.302T>G p.V101G Missense 2/24 - 2
5-79952298-G-C c.306G>C p.K102N Missense 2/24 - 3
5-79952298-G-T c.306G>T p.K102N Missense 2/24 - 3
5-79952294-TAAAG-T c.307_310del p.K103Sfs*22 Frameshift 2/24 - 1
5-79952303-T-C c.311T>C p.V104A Missense 2/24 - 1
5-79952303-T-G c.311T>G p.V104G Missense 2/24 - 1
5-79952304-C-A c.312C>A p.V104= Synonymous 2/24 - 1
5-79952304-C-G c.312C>G p.V104= Synonymous 2/24 - 1
5-79952304-C-T c.312C>T p.V104= Synonymous 2/24 - 1
5-79952307-A-G c.315A>G p.Q105= Synonymous 2/24 - 1
5-79952308-C-G c.316C>G p.Q106E Missense 2/24 - 3
5-79952308-C-T c.316C>T p.Q106* Nonsense 2/24 - 2
5-79952314-G-A c.322G>A p.E108K Missense 2/24 - 2
5-79952314-G-T c.322G>T p.E108* Nonsense 2/24 - 1
5-79952317-G-A c.325G>A p.G109R Missense 2/24 - 1
5-79952317-G-C c.325G>C p.G109R Missense 2/24 - 1
5-79952318-G-C c.326G>C p.G109A Missense 2/24 - 1
5-79952320-G-A c.328G>A p.G110R Missense 2/24 - 1
5-79952320-G-C c.328G>C p.G110R Missense 2/24 - 1
5-79952321-G-A c.329G>A p.G110E Missense 2/24 - 3
5-79952321-G-T c.329G>T p.G110V Missense 2/24 - 3
5-79952324-G-A c.332G>A p.S111N Missense 2/24 - 1
5-79952326-G-A c.334G>A p.D112N Missense 2/24 - 1
5-79952329-C-G c.337C>G p.L113V Missense 2/24 - 1
5-79952329-CTG-TTT c.337_339delinsTTT p.L113F Missense 2/24 - 1
5-79952329-C-T c.337C>T p.L113= Synonymous 2/24 - 1
5-79952331-G-A c.339G>A p.L113= Synonymous 2/24 - 1
5-79952331-G-C c.339G>C p.L113= Synonymous 2/24 - 1
5-79952331-G-T c.339G>T p.L113= Synonymous 2/24 - 1
5-79952335-A-C c.343A>C p.M115L Missense 2/24 - 2
5-79952335-A-T c.343A>T p.M115L Missense 2/24 - 1
5-79952336-T-C c.344T>C p.M115T Missense 2/24 - 2
5-79952337-G-A c.345G>A p.M115I Missense 2/24 - 3
5-79952337-G-C c.345G>C p.M115I Missense 2/24 - 2
5-79952337-G-T c.345G>T p.M115I Missense 2/24 - 3
5-79952338-T-A c.346T>A p.S116T Missense 2/24 - 1
5-79952338-T-G c.346T>G p.S116A Missense 2/24 - 1
5-79952339-C-T c.347C>T p.S116F Missense 2/24 - 4
5-79952340-CT-C c.348del p.G117Afs*9 Frameshift 2/24 - 1
5-79952340-T-A c.348T>A p.S116= Synonymous 2/24 - 1
5-79952340-T-C c.348T>C p.S116= Synonymous 2/24 - 1
5-79952340-T-G c.348T>G p.S116= Synonymous 2/24 - 1
5-79952341-G-A c.349G>A p.G117S Missense 2/24 - 1
5-79952341-G-T c.349G>T p.G117C Missense 2/24 - 2
5-79952342-G-A c.350G>A p.G117D Missense 2/24 - 2
5-79952342-GC-AG c.350_351delinsAG p.G117E Missense 2/24 - 1
5-79952343-C-A c.351C>A p.G117= Synonymous 2/24 - 1
5-79952343-C-G c.351C>G p.G117= Synonymous 2/24 - 1
5-79952343-C-T c.351C>T p.G117= Synonymous 2/24 - 1
5-79952345-A-T c.353A>T p.N118I Missense 2/24 - 2
5-79952348-C-T c.356C>T p.S119F Missense 2/24 - 8
5-79952350-G-C c.358G>C p.E120Q Missense 2/24 - 1
5-79952352-T-G c.358+2T>G - IntronicSNV - 2/23 1
5-79952355-G-A c.358+5G>A - IntronicSNV - 2/23 1
5-79952390-T-C c.358+40T>C - IntronicSNV - 2/23 2
5-79952390-T-G c.358+40T>G - IntronicSNV - 2/23 2
5-79952402-G-T c.358+52G>T - IntronicSNV - 2/23 1
5-79952426-G-A c.358+76G>A - IntronicSNV - 2/23 6
5-79952426-G-C c.358+76G>C - IntronicSNV - 2/23 5
5-79952426-G-T c.358+76G>T - IntronicSNV - 2/23 5
5-79952506-G-A c.358+156G>A - IntronicSNV - 2/23 1
5-79953677-T-C c.358+1327T>C - IntronicSNV - 2/23 1
5-79955991-T-G c.358+3641T>G - IntronicSNV - 2/23 1
5-79957717-G-A c.359-3245G>A - IntronicSNV - 2/23 1
5-79957737-C-T c.359-3225C>T - IntronicSNV - 2/23 1
5-79957835-A-G c.359-3127A>G - IntronicSNV - 2/23 1
5-79959371-T-G c.359-1591T>G - IntronicSNV - 2/23 1
5-79960955-G-A c.359-7G>A - IntronicSNV - 2/23 4
5-79960960-A-G c.359-2A>G - IntronicSNV - 2/23 1
5-79960963-G-A c.360G>A p.E120= Synonymous 3/24 - 2
5-79960963-G-C c.360G>C p.E120D Missense 3/24 - 1
5-79960963-G-T c.360G>T p.E120D Missense 3/24 - 1
5-79960965-C-T c.362C>T p.P121L Missense 3/24 - 1
5-79960969-G-C c.366G>C p.K122N Missense 3/24 - 2
5-79960969-G-T c.366G>T p.K122N Missense 3/24 - 4
5-79960970-A-C c.367A>C p.K123Q Missense 3/24 - 1
5-79960971-A-G c.368A>G p.K123R Missense 3/24 - 1
5-79960974-G-A c.371G>A p.C124Y Missense 3/24 - 3
5-79960976-C-T c.373C>T p.L125= Synonymous 3/24 - 1
5-79960978-G-A c.375G>A p.L125= Synonymous 3/24 - 1
5-79960978-G-C c.375G>C p.L125= Synonymous 3/24 - 1
5-79960978-G-T c.375G>T p.L125= Synonymous 3/24 - 1
5-79960980-G-A c.377G>A p.R126K Missense 3/24 - 1
5-79960983-C-T c.380C>T p.T127I Missense 3/24 - 1
5-79960985-A-G c.382A>G p.R128G Missense 3/24 - 1
5-79960985-AG-CA c.382_383delinsCA p.R128Q Missense 3/24 - 1
5-79960985-AGG-TGT c.382_384delinsTGT p.R128C Missense 3/24 - 1
5-79960985-A-T c.382A>T p.R128W Missense 3/24 - 1
5-79960986-G-A c.383G>A p.R128K Missense 3/24 - 1
5-79960986-G-T c.383G>T p.R128M Missense 3/24 - 1
5-79960992-T-C c.389T>C p.V130A Missense 3/24 - 1
5-79960992-T-G c.389T>G p.V130G Missense 3/24 - 1
5-79960995-C-A c.392C>A p.S131* Nonsense 3/24 - 2
5-79960995-C-G c.392C>G p.S131* Nonsense 3/24 - 1
5-79960997-A-C c.394A>C p.K132Q Missense 3/24 - 1
5-79961004-T-C c.401T>C p.L134P Missense 3/24 - 1
5-79961005-G-A c.402G>A p.L134= Synonymous 3/24 - 1
5-79961006-G-A c.403G>A p.E135K Missense 3/24 - 1
5-79961013-T-C c.410T>C p.L137S Missense 3/24 - 1
5-79961015-A-G c.412A>G p.K138E Missense 3/24 - 1
5-79961018-G-T c.415G>T p.E139* Nonsense 3/24 - 3
5-79961019-A-G c.416A>G p.E139G Missense 3/24 - 1
5-79961024-T-C c.421T>C p.C141R Missense 3/24 - 1
5-79961025-G-A c.422G>A p.C141Y Missense 3/24 - 2
5-79961026-C-A c.423C>A p.C141* Nonsense 3/24 - 1
5-79961026-C-T c.423C>T p.C141= Synonymous 3/24 - 1
5-79961029-C-T c.426C>T p.C142= Synonymous 3/24 - 2
5-79961030-G-A c.427G>A p.D143N Missense 3/24 - 6
5-79961030-G-T c.427G>T p.D143Y Missense 3/24 - 1
5-79961033-T-C c.430T>C p.S144P Missense 3/24 - 1
5-79961036-G-A c.433G>A p.A145T Missense 3/24 - 1
5-79961036-G-T c.433G>T p.A145S Missense 3/24 - 2
5-79961036-GC-G c.436del p.L146Ffs*87 Frameshift 3/24 - 1
5-79961042-C-T c.439C>T p.P147S Missense 3/24 - 2
5-79961043-C-T c.440C>T p.P147L Missense 3/24 - 1
5-79961049-G-A c.446G>A p.S149N Missense 3/24 - 1
5-79961052-G-A c.449G>A p.R150K Missense 3/24 - 1
5-79961052-G-T c.449G>T p.R150I Missense 3/24 - 3
5-79961054-G-A c.451G>A p.V151I Missense 3/24 - 1
5-79961056-C-A c.453C>A p.V151= Synonymous 3/24 - 1
5-79961056-C-G c.453C>G p.V151= Synonymous 3/24 - 1
5-79961056-C-T c.453C>T p.V151= Synonymous 3/24 - 1
5-79961057-C-T c.454C>T p.Q152* Nonsense 3/24 - 2
5-79961058-A-G c.455A>G p.Q152R Missense 3/24 - 2
5-79961060-A-G c.457A>G p.T153A Missense 3/24 - 1
5-79961061-C-T c.458C>T p.T153I Missense 3/24 - 1
5-79961063-G-A c.460G>A p.E154K Missense 3/24 - 1
5-79961063-G-T c.460G>T p.E154* Nonsense 3/24 - 1
5-79961064-A-G c.461A>G p.E154G Missense 3/24 - 1
5-79961066-T-A c.463T>A p.S155T Missense 3/24 - 1
5-79961068-T-A c.465T>A p.S155= Synonymous 3/24 - 1
5-79961069-C-A c.466C>A p.L156M Missense 3/24 - 4
5-79961072-C-A c.469C>A p.Q157K Missense 3/24 - 1
5-79961075-G-A c.472G>A p.E158K Missense 3/24 - 1
5-79961075-G-T c.472G>T p.E158* Nonsense 3/24 - 1
5-79961079-G-A c.476G>A p.R159K Missense 3/24 - 1
5-79961084-G-A c.481G>A p.A161T Missense 3/24 - 1
5-79961085-C-T c.482C>T p.A161V Missense 3/24 - 2
5-79961087-G-A c.484G>A p.V162I Missense 3/24 - 1
5-79961090-C-G c.487C>G p.L163V Missense 3/24 - 1
5-79961094-C-T c.491C>T p.P164L Missense 3/24 - 1
5-79961097-A-C c.494A>C p.K165T Missense 3/24 - 1
5-79961099-T-C c.496T>C p.C166R Missense 3/24 - 1
5-79961100-G-A c.497G>A p.C166Y Missense 3/24 - 1
5-79961100-G-T c.497G>T p.C166F Missense 3/24 - 1
5-79961103-C-T c.500C>T p.T167I Missense 3/24 - 1
5-79961105-G-A c.502G>A p.D168N Missense 3/24 - 1
5-79961106-A-G c.503A>G p.D168G Missense 3/24 - 1
5-79961109-T-C c.506T>C p.F169S Missense 3/24 - 1
5-79961111-G-A c.508G>A p.D170N Missense 3/24 - 1
5-79961114-G-A c.511G>A p.D171N Missense 3/24 - 1
5-79961115-A-G c.512A>G p.D171G Missense 3/24 - 1
5-79961118-T-C c.515T>C p.I172T Missense 3/24 - 1
5-79961119-C-A c.516C>A p.I172= Synonymous 3/24 - 1
5-79961119-C-T c.516C>T p.I172= Synonymous 3/24 - 1
5-79961120-A-C c.517A>C p.S173R Missense 3/24 - 1
5-79961121-G-A c.518G>A p.S173N Missense 3/24 - 1
5-79961123-C-G c.520C>G p.L174V Missense 3/24 - 1
5-79961126-C-G c.523C>G p.L175V Missense 3/24 - 3
5-79961130-A-G c.527A>G p.H176R Missense 3/24 - 1
5-79961131-C-T c.528C>T p.H176= Synonymous 3/24 - 1
5-79961132-G-A c.529G>A p.A177T Missense 3/24 - 6
5-79961133-C-T c.530C>T p.A177V Missense 3/24 - 1
5-79961135-A-G c.532A>G p.K178E Missense 3/24 - 2
5-79961137-G-T c.534G>T p.K178N Missense 3/24 - 2
5-79961139-A-G c.536A>G p.N179S Missense 3/24 - 1
5-79961141-G-A c.538G>A p.A180T Missense 3/24 - 1
5-79961143-A-C c.540A>C p.A180= Synonymous 3/24 - 1
5-79961143-A-G c.540A>G p.A180= Synonymous 3/24 - 1
5-79961143-A-T c.540A>T p.A180= Synonymous 3/24 - 1
5-79961144-G-A c.541G>A p.V181I Missense 3/24 - 1
5-79961148-C-T c.545C>T p.S182F Missense 3/24 - 4
5-79961149-T-A c.546T>A p.S182= Synonymous 3/24 - 1
5-79961149-T-C c.546T>C p.S182= Synonymous 3/24 - 1
5-79961149-T-G c.546T>G p.S182= Synonymous 3/24 - 1
5-79961148-CT-C c.547del p.S183Lfs*50 Frameshift 3/24 - 1
5-79961151-C-G c.548C>G p.S183C Missense 3/24 - 1
5-79961151-C-T c.548C>T p.S183F Missense 3/24 - 1
5-79961153-G-T c.550G>T p.E184* Nonsense 3/24 - 1
5-79961157-A-G c.554A>G p.D185G Missense 3/24 - 1
5-79961158-T-C c.555T>C p.D185= Synonymous 3/24 - 1
5-79961160-C-A c.557C>A p.S186* Nonsense 3/24 - 1
5-79961160-C-T c.557C>T p.S186L Missense 3/24 - 3
5-79961161-G-A c.558G>A p.S186= Synonymous 3/24 - 1
5-79961162-AAA-TTT c.559_561inv p.K187F Missense 3/24 - 1
5-79961162-AA-GC c.559_560delinsGC p.K187A Missense 3/24 - 1
5-79961162-A-C c.559A>C p.K187Q Missense 3/24 - 1
5-79961163-AA-TG c.560_561delinsTG p.K187M Missense 3/24 - 1
5-79961163-A-G c.560A>G p.K187R Missense 3/24 - 1
5-79961165-C-A c.562C>A p.R188S Missense 3/24 - 1
5-79961165-C-CT c.562_563insT p.R188Lfs*4 Frameshift 3/24 - 1
5-79961165-C-G c.562C>G p.R188G Missense 3/24 - 1
5-79961165-CGT-TGA c.562_564delinsTGA p.R188* Nonsense 3/24 - 1
5-79961165-C-T c.562C>T p.R188C Missense 3/24 - 2
5-79961166-G-A c.563G>A p.R188H Missense 3/24 - 3
5-79961168-C-T c.565C>T p.Q189* Nonsense 3/24 - 1
5-79961170-A-C c.567A>C p.Q189H Missense 3/24 - 1
5-79961174-A-G c.571A>G p.N191D Missense 3/24 - 1
5-79961177-C-T c.574C>T p.Q192* Nonsense 3/24 - 5
5-79961181-A-T c.578A>T p.K193M Missense 3/24 - 1
5-79961241-G-A c.579+59G>A - IntronicSNV - 3/23 1
5-79961643-A-G c.579+461A>G - IntronicSNV - 3/23 1
5-79962343-C-G c.579+1161C>G - IntronicSNV - 3/23 1
5-79962343-C-T c.579+1161C>T - IntronicSNV - 3/23 1
5-79962439-G-A c.579+1257G>A - IntronicSNV - 3/23 1
5-79962548-G-A c.579+1366G>A - IntronicSNV - 3/23 1
5-79962578-C-T c.579+1396C>T - IntronicSNV - 3/23 1
5-79962676-C-T c.579+1494C>T - IntronicSNV - 3/23 1
5-79963197-T-C c.579+2015T>C - IntronicSNV - 3/23 3
5-79965020-G-A c.580-896G>A - IntronicSNV - 3/23 1
5-79965536-A-G c.580-380A>G - IntronicSNV - 3/23 7
5-79965735-T-C c.580-181T>C - IntronicSNV - 3/23 2
5-79965916-G-A c.580G>A p.D194N Missense 4/24 - 1
5-79965918-C-G c.582C>G p.D194E Missense 4/24 - 1
5-79965919-A-G c.583A>G p.T195A Missense 4/24 - 1
5-79965920-CA-C c.586del p.T196Hfs*37 Frameshift 4/24 - 3
5-79965923-C-T c.587C>T p.T196I Missense 4/24 - 4
5-79965925-C-G c.589C>G p.L197V Missense 4/24 - 1
5-79965925-C-T c.589C>T p.L197F Missense 4/24 - 3
5-79965928-T-C c.592T>C p.F198L Missense 4/24 - 1
5-79965931-G-A c.595G>A p.D199N Missense 4/24 - 1
5-79965932-A-C c.596A>C p.D199A Missense 4/24 - 1
5-79965934-C-G c.598C>G p.L200V Missense 4/24 - 1
5-79965937-A-G c.601A>G p.S201G Missense 4/24 - 1
5-79965937-AG-CT c.601_602inv p.S201L Missense 4/24 - 1
5-79965937-AG-GA c.601_602delinsGA p.S201D Missense 4/24 - 1
5-79965937-AG-TA c.601_602delinsTA p.S201Y Missense 4/24 - 1
5-79965938-G-A c.602G>A p.S201N Missense 4/24 - 1
5-79965937-A-C c.601A>C p.S201R Missense 4/24 - 1
5-79965939-T-A c.603T>A p.S201R Missense 4/24 - 1
5-79965939-T-G c.603T>G p.S201R Missense 4/24 - 1
5-79965940-C-G c.604C>G p.Q202E Missense 4/24 - 1
5-79965944-T-C c.608T>C p.F203S Missense 4/24 - 1
5-79965945-TTG-T c.609_610del p.F203Lfs*8 Frameshift 4/24 - 1
5-79965946-G-A c.610G>A p.G204R Missense 4/24 - 1
5-79965946-G-C c.610G>C p.G204R Missense 4/24 - 1
5-79965946-GGA-TGT c.610_612delinsTGT p.G204C Missense 4/24 - 1
5-79965946-G-T c.610G>T p.G204* Nonsense 4/24 - 1
5-79965947-G-A c.611G>A p.G204E Missense 4/24 - 1
5-79965947-G-C c.611G>C p.G204A Missense 4/24 - 1
5-79965947-G-T c.611G>T p.G204V Missense 4/24 - 1
5-79965950-C-A c.614C>A p.S205* Nonsense 4/24 - 1
5-79965950-C-G c.614C>G p.S205* Nonsense 4/24 - 1
5-79965950-C-T c.614C>T p.S205L Missense 4/24 - 1
5-79965951-A-C c.615A>C p.S205= Synonymous 4/24 - 1
5-79965951-A-G c.615A>G p.S205= Synonymous 4/24 - 1
5-79965951-A-T c.615A>T p.S205= Synonymous 4/24 - 1
5-79965957-AT-A c.621del p.N207Kfs*26 Frameshift 4/24 - 1
5-79965959-C-T c.623C>T p.T208I Missense 4/24 - 3
5-79965962-G-A c.626G>A p.S209N Missense 4/24 - 1
5-79965961-A-C c.625A>C p.S209R Missense 4/24 - 1
5-79965963-T-A c.627T>A p.S209R Missense 4/24 - 1
5-79965963-T-C c.627T>C p.S209= Synonymous 4/24 - 1
5-79965963-T-G c.627T>G p.S209R Missense 4/24 - 1
5-79965964-CA-GC c.628_629delinsGC p.H210A Missense 4/24 - 1
5-79965964-C-T c.628C>T p.H210Y Missense 4/24 - 1
5-79965967-G-A c.631G>A p.E211K Missense 4/24 - 2
5-79965972-T-C c.636T>C p.N212= Synonymous 4/24 - 1
5-79965975-A-C c.639A>C p.L213F Missense 4/24 - 1
5-79965975-A-T c.639A>T p.L213F Missense 4/24 - 1
5-79965976-C-T c.640C>T p.Q214* Nonsense 4/24 - 1
5-79965977-A-G c.641A>G p.Q214R Missense 4/24 - 4
5-79965978-G-C c.642G>C p.Q214H Missense 4/24 - 1
5-79965983-C-T c.647C>T p.T216I Missense 4/24 - 1
5-79965985-G-A c.649G>A p.A217T Missense 4/24 - 2
5-79965989-C-T c.653C>T p.S218F Missense 4/24 - 2
5-79965991-A-C c.655A>C p.K219Q Missense 4/24 - 1
5-79965992-A-C c.656A>C p.K219T Missense 4/24 - 1
5-79965995-C-A c.659C>A p.S220* Nonsense 4/24 - 2
5-79965995-C-G c.659C>G p.S220* Nonsense 4/24 - 1
5-79965995-C-T c.659C>T p.S220L Missense 4/24 - 4
5-79965997-G-C c.661G>C p.A221P Missense 4/24 - 1
5-79965998-C-T c.662C>T p.A221V Missense 4/24 - 1
5-79965999-T-C c.663T>C p.A221= Synonymous 4/24 - 1
5-79966002-C-A c.666C>A p.N222K Missense 4/24 - 2
5-79966002-C-G c.666C>G p.N222K Missense 4/24 - 3
5-79966002-C-T c.666C>T p.N222= Synonymous 4/24 - 1
5-79966005-A-C c.669A>C p.K223N Missense 4/24 - 1
5-79966006-CG-TA c.670_671delinsTA p.R224* Nonsense 4/24 - 1
5-79966006-C-T c.670C>T p.R224W Missense 4/24 - 8
5-79966010-C-T c.674C>T p.S225F Missense 4/24 - 1
5-79966017-C-A c.681C>A p.S227R Missense 4/24 - 1
5-79966017-C-G c.681C>G p.S227R Missense 4/24 - 1
5-79966021-T-A c.685T>A p.Y229N Missense 4/24 - 1
5-79966021-T-C c.685T>C p.Y229H Missense 4/24 - 1
5-79966025-C-T c.689C>T p.T230M Missense 4/24 - 3
5-79966028-C-A c.692C>A p.P231Q Missense 4/24 - 1
5-79966028-C-G c.692C>G p.P231R Missense 4/24 - 1
5-79966028-C-T c.692C>T p.P231L Missense 4/24 - 2
5-79966029-G-A c.693G>A p.P231= Synonymous 4/24 - 31
5-79966029-G-C c.693G>C p.P231= Synonymous 4/24 - 7
5-79966029-G-T c.693G>T p.P231= Synonymous 4/24 - 7
5-79966030-C-G c.694C>G p.L232V Missense 4/24 - 1
5-79966033-G-A c.697G>A p.E233K Missense 4/24 - 2
5-79966033-G-T c.697G>T p.E233* Nonsense 4/24 - 4
5-79966039-C-T c.703C>T p.Q235* Nonsense 4/24 - 3
5-79966043-A-G c.707A>G p.Y236C Missense 4/24 - 1
5-79966044-C-A c.708C>A p.Y236* Nonsense 4/24 - 1
5-79966044-C-G c.708C>G p.Y236* Nonsense 4/24 - 1
5-79966045-A-G c.709A>G p.I237V Missense 4/24 - 1
5-79966048-G-A c.712G>A p.E238K Missense 4/24 - 1
5-79966048-GA-TC c.712_713inv p.E238S Missense 4/24 - 1
5-79966050-A-G c.714A>G p.E238= Synonymous 4/24 - 1
5-79966053-G-A c.717G>A p.M239I Missense 4/24 - 1
5-79966053-G-C c.717G>C p.M239I Missense 4/24 - 1
5-79966053-G-T c.717G>T p.M239I Missense 4/24 - 1
5-79966058-A-T c.722A>T p.Q241L Missense 4/24 - 1
5-79966059-G-A c.723G>A p.Q241= Synonymous 4/24 - 1
5-79966060-C-T c.724C>T p.Q242* Nonsense 4/24 - 1
5-79966063-C-A c.727C>A p.H243N Missense 4/24 - 1
5-79966065-C-A c.729C>A p.H243Q Missense 4/24 - 1
5-79966068-A-G c.732A>G p.K244= Synonymous 4/24 - 1
5-79966069-G-A c.733G>A p.D245N Missense 4/24 - 1
5-79966069-G-T c.733G>T p.D245Y Missense 4/24 - 2
5-79966070-A-G c.734A>G p.D245G Missense 4/24 - 1
5-79966072-G-A c.736G>A p.A246T Missense 4/24 - 2
5-79966073-C-T c.737C>T p.A246V Missense 4/24 - 1
5-79966075-G-A c.739G>A p.V247I Missense 4/24 - 2
5-79966078-T-A c.742T>A p.L248M Missense 4/24 - 1
5-79966080-G-T c.744G>T p.L248F Missense 4/24 - 1
5-79966082-G-A c.746G>A p.C249Y Missense 4/24 - 7
5-79966082-G-T c.746G>T p.C249F Missense 4/24 - 1
5-79966084-G-A c.748G>A p.V250M Missense 4/24 - 4
5-79966085-T-C c.749T>C p.V250A Missense 4/24 - 1
5-79966087-G-A c.751G>A p.E251K Missense 4/24 - 1
5-79966087-G-T c.751G>T p.E251* Nonsense 4/24 - 2
5-79966091-G-A c.755G>A p.C252Y Missense 4/24 - 1
5-79966099-AA-GC c.763_764delinsGC p.K255A Missense 4/24 - 1
5-79966099-A-T c.763A>T p.K255* Nonsense 4/24 - 1
5-79966102-T-C c.766T>C p.Y256H Missense 4/24 - 1
5-79966105-AGA-TGT c.769_771delinsTGT p.R257C Missense 4/24 - 1
5-79966105-AG-CA c.769_770delinsCA p.R257Q Missense 4/24 - 1
5-79966106-G-A c.770G>A p.R257K Missense 4/24 - 1
5-79966110-C-A c.774C>A p.F258L Missense 4/24 - 2
5-79966114-G-A c.778G>A p.G260R Missense 4/24 - 1
5-79966114-G-C c.778G>C p.G260R Missense 4/24 - 1
5-79966117-G-A c.781G>A p.E261K Missense 4/24 - 1
5-79966119-A-G c.783A>G p.E261= Synonymous 4/24 - 1
5-79966123-G-A c.787G>A p.A263T Missense 4/24 - 1
5-79966123-GCA-TGT c.787_789delinsTGT p.A263C Missense 4/24 - 1
5-79966126-G-T c.790G>T p.E264* Nonsense 4/24 - 1
5-79966129-G-A c.792+1G>A - IntronicSNV - 4/23 2
5-79966132-A-G c.792+4A>G - IntronicSNV - 4/23 1
5-79966146-G-A c.792+18G>A - IntronicSNV - 4/23 1
5-79966178-G-A c.792+50G>A - IntronicSNV - 4/23 1
5-79966197-G-A c.792+69G>A - IntronicSNV - 4/23 3
5-79967129-C-G c.793-934C>G - IntronicSNV - 4/23 2
5-79967129-C-T c.793-934C>T - IntronicSNV - 4/23 2
5-79968063-GATT-G c.793_795del p.I265del InFrameDeletion 5/24 - 1
5-79968065-T-G c.795T>G p.I265M Missense 5/24 - 1
5-79968066-G-A c.796G>A p.A266T Missense 5/24 - 1
5-79968067-C-T c.797C>T p.A266V Missense 5/24 - 1
5-79968069-G-A c.799G>A p.A267T Missense 5/24 - 2
5-79968070-C-G c.800C>G p.A267G Missense 5/24 - 1
5-79968070-C-T c.800C>T p.A267V Missense 5/24 - 1
5-79968071-C-T c.801C>T p.A267= Synonymous 5/24 - 1
5-79968072-C-A c.802C>A p.R268= Synonymous 5/24 - 1
5-79968072-C-T c.802C>T p.R268* Nonsense 5/24 - 2
5-79968074-A-C c.804A>C p.R268= Synonymous 5/24 - 1
5-79968074-A-G c.804A>G p.R268= Synonymous 5/24 - 1
5-79968074-A-T c.804A>T p.R268= Synonymous 5/24 - 1
5-79968073-G-A c.803G>A p.R268Q Missense 5/24 - 2
5-79968075-G-A c.805G>A p.E269K Missense 5/24 - 1
5-79968076-A-G c.806A>G p.E269G Missense 5/24 - 3
5-79968078-C-T c.808C>T p.L270F Missense 5/24 - 1
5-79968079-T-A c.809T>A p.L270H Missense 5/24 - 1
5-79968079-T-C c.809T>C p.L270P Missense 5/24 - 2
5-79968084-A-G c.814A>G p.I272V Missense 5/24 - 1
5-79968087-T-C c.817T>C p.Y273H Missense 5/24 - 1
5-79968087-T-G c.817T>G p.Y273D Missense 5/24 - 1
5-79968088-A-G c.818A>G p.Y273C Missense 5/24 - 1
5-79968091-G-T c.821G>T p.C274F Missense 5/24 - 1
5-79968093-C-T c.823C>T p.H275Y Missense 5/24 - 2
5-79968096-T-C c.826T>C p.L276= Synonymous 5/24 - 1
5-79968098-A-G c.828A>G p.L276= Synonymous 5/24 - 1
5-79968103-A-C c.833A>C p.H278P Missense 5/24 - 1
5-79968105-A-G c.835A>G p.N279D Missense 5/24 - 1
5-79968106-A-C c.836A>C p.N279T Missense 5/24 - 1
5-79968107-C-A c.837C>A p.N279K Missense 5/24 - 1
5-79968107-C-G c.837C>G p.N279K Missense 5/24 - 1
5-79968109-T-G c.839T>G p.F280C Missense 5/24 - 1
5-79968111-A-G c.841A>G p.M281V Missense 5/24 - 1
5-79968114-A-T c.844A>T p.T282S Missense 5/24 - 1
5-79968115-C-T c.845C>T p.T282I Missense 5/24 - 3
5-79968117-G-T c.847G>T p.A283S Missense 5/24 - 1
5-79968118-CA-AC c.848_849delinsAC p.A283D Missense 5/24 - 1
5-79968118-C-T c.848C>T p.A283V Missense 5/24 - 1
5-79968120-A-G c.850A>G p.S284G Missense 5/24 - 1
5-79968122-T-C c.852T>C p.S284= Synonymous 5/24 - 2
5-79968123-A-G c.853A>G p.I285V Missense 5/24 - 1
5-79968125-A-G c.855A>G p.I285M Missense 5/24 - 1
5-79968126-C-A c.856C>A p.P286T Missense 5/24 - 2
5-79968126-C-T c.856C>T p.P286S Missense 5/24 - 1
5-79968127-C-A c.857C>A p.P286H Missense 5/24 - 1
5-79968128-T-C c.858T>C p.P286= Synonymous 5/24 - 1
5-79968129-A-G c.859A>G p.T287A Missense 5/24 - 1
5-79968130-C-T c.860C>T p.T287I Missense 5/24 - 1
5-79968132-C-T c.862C>T p.H288Y Missense 5/24 - 1
5-79968134-C-A c.864C>A p.H288Q Missense 5/24 - 1
5-79968134-C-G c.864C>G p.H288Q Missense 5/24 - 1
5-79968135-AG-GA c.865_866delinsGA p.R289E Missense 5/24 - 1
5-79968136-G-A c.866G>A p.R289K Missense 5/24 - 1
5-79968142-T-G c.872T>G p.F291C Missense 5/24 - 1
5-79968138-CTGTT-C c.873_876del p.V292Mfs*15 Frameshift 5/24 - 1
5-79968144-G-C c.874G>C p.V292L Missense 5/24 - 4
5-79968147-C-T c.877C>T p.H293Y Missense 5/24 - 1
5-79968150-G-A c.880G>A p.V294I Missense 5/24 - 1
5-79968150-G-T c.880G>T p.V294L Missense 5/24 - 1
5-79968153-C-A c.883C>A p.R295S Missense 5/24 - 1
5-79968153-CGC-TGA c.883_885delinsTGA p.R295* Nonsense 5/24 - 1
5-79968153-C-T c.883C>T p.R295C Missense 5/24 - 1
5-79968154-G-A c.884G>A p.R295H Missense 5/24 - 3
5-79968154-GC-AA c.884_885delinsAA p.R295Q Missense 5/24 - 1
5-79968156-C-A c.886C>A p.R296S Missense 5/24 - 1
5-79968156-C-T c.886C>T p.R296C Missense 5/24 - 3
5-79968157-GC-AA c.887_888delinsAA p.R296Q Missense 5/24 - 1
5-79968157-G-T c.887G>T p.R296L Missense 5/24 - 1
5-79968158-C-A c.888C>A p.R296= Synonymous 5/24 - 1
5-79968158-C-G c.888C>G p.R296= Synonymous 5/24 - 1
5-79968158-C-T c.888C>T p.R296= Synonymous 5/24 - 1
5-79968157-GC-G c.889del p.L297Wfs*11 Frameshift 5/24 - 1
5-79968159-C-T c.889C>T p.L297= Synonymous 5/24 - 1
5-79968159-CT-TA c.889_890delinsTA p.L297* Nonsense 5/24 - 1
5-79968160-T-C c.890T>C p.L297P Missense 5/24 - 2
5-79968162-G-A c.892G>A p.V298M Missense 5/24 - 1
5-79968162-GTG-ATC c.892_894delinsATC p.V298I Missense 5/24 - 1
5-79968163-T-C c.893T>C p.V298A Missense 5/24 - 1
5-79968164-G-A c.894G>A p.V298= Synonymous 5/24 - 1
5-79968164-G-C c.894G>C p.V298= Synonymous 5/24 - 1
5-79968164-G-T c.894G>T p.V298= Synonymous 5/24 - 1
5-79968165-G-A c.895G>A p.A299T Missense 5/24 - 1
5-79968166-C-A c.896C>A p.A299E Missense 5/24 - 1
5-79968170-A-G c.900A>G p.K300= Synonymous 5/24 - 1
5-79968171-G-T c.901G>T p.G301* Nonsense 5/24 - 2
5-79968172-G-A c.902G>A p.G301E Missense 5/24 - 2
5-79968173-A-C c.903A>C p.G301= Synonymous 5/24 - 1
5-79968173-A-G c.903A>G p.G301= Synonymous 5/24 - 1
5-79968173-A-T c.903A>T p.G301= Synonymous 5/24 - 1
5-79968175-A-G c.905A>G p.Y302C Missense 5/24 - 1
5-79968177-A-G c.907A>G p.K303E Missense 5/24 - 1
5-79968179-G-C c.909G>C p.K303N Missense 5/24 - 1
5-79968258-T-A c.909+79T>A - IntronicSNV - 5/23 2
5-79968271-A-G c.909+92A>G - IntronicSNV - 5/23 3
5-79968454-A-G c.910-106A>G - IntronicSNV - 5/23 2
5-79968496-C-T c.910-64C>T - IntronicSNV - 5/23 3
5-79968560-G-A c.910G>A p.V304M Missense 6/24 - 1
5-79968560-G-C c.910G>C p.V304L Missense 6/24 - 1
5-79968560-G-T c.910G>T p.V304L Missense 6/24 - 1
5-79968562-G-T c.912G>T p.V304= Synonymous 6/24 - 1
5-79968563-G-A c.913G>A p.G305R Missense 6/24 - 1
5-79968563-G-C c.913G>C p.G305R Missense 6/24 - 1
5-79968563-GGA-AGC c.913_915delinsAGC p.G305S Missense 6/24 - 1
5-79968564-G-T c.914G>T p.G305V Missense 6/24 - 2
5-79968566-G-A c.916G>A p.V306I Missense 6/24 - 1
5-79968567-T-C c.917T>C p.V306A Missense 6/24 - 1
5-79968569-G-A c.919G>A p.V307M Missense 6/24 - 1
5-79968570-T-C c.920T>C p.V307A Missense 6/24 - 1
5-79968573-A-T c.923A>T p.K308M Missense 6/24 - 1
5-79968577-A-C c.927A>C p.Q309H Missense 6/24 - 1
5-79968577-A-T c.927A>T p.Q309H Missense 6/24 - 1
5-79968585-C-T c.935C>T p.T312I Missense 6/24 - 2
5-79968586-T-C c.936T>C p.T312= Synonymous 6/24 - 1
5-79968587-G-T c.937G>T p.A313S Missense 6/24 - 1
5-79968588-C-A c.938C>A p.A313E Missense 6/24 - 1
5-79968588-C-G c.938C>G p.A313G Missense 6/24 - 3
5-79968588-C-T c.938C>T p.A313V Missense 6/24 - 1
5-79968589-A-C c.939A>C p.A313= Synonymous 6/24 - 1
5-79968589-A-G c.939A>G p.A313= Synonymous 6/24 - 1
5-79968589-A-T c.939A>T p.A313= Synonymous 6/24 - 1
5-79968591-C-T c.941C>T p.A314V Missense 6/24 - 1
5-79968598-G-A c.948G>A p.K316= Synonymous 6/24 - 1
5-79968599-G-A c.949G>A p.A317T Missense 6/24 - 2
5-79968600-C-T c.950C>T p.A317V Missense 6/24 - 1
5-79968602-A-T c.952A>T p.I318F Missense 6/24 - 1
5-79968604-T-C c.954T>C p.I318= Synonymous 6/24 - 1
5-79968604-T-G c.954T>G p.I318M Missense 6/24 - 1
5-79968605-G-A c.955G>A p.G319R Missense 6/24 - 1
5-79968605-G-C c.955G>C p.G319R Missense 6/24 - 2
5-79968606-G-A c.956G>A p.G319E Missense 6/24 - 1
5-79968608-G-A c.958G>A p.D320N Missense 6/24 - 1
5-79968610-AC-A c.960del p.D320Efs*11 Frameshift 6/24 - 1
5-79968614-AGA-CAT c.964_966delinsCAT p.R322H Missense 6/24 - 1
5-79968614-AGA-TGG c.964_966delinsTGG p.R322W Missense 6/24 - 1
5-79968617-A-G c.967A>G p.S323G Missense 6/24 - 1
5-79968618-G-A c.968G>A p.S323N Missense 6/24 - 1
5-79968621-C-T c.971C>T p.S324L Missense 6/24 - 2
5-79968627-T-C c.977T>C p.F326S Missense 6/24 - 1
5-79968628-TTTCCCGG-T c.978_984del p.F326Lfs*3 Frameshift 6/24 - 1
5-79968625-CT-C c.979del p.S327Pfs*4 Frameshift 6/24 - 1
5-79968629-T-A c.979T>A p.S327T Missense 6/24 - 1
5-79968630-C-T c.980C>T p.S327F Missense 6/24 - 4
5-79968632-C-G c.982C>G p.R328G Missense 6/24 - 1
5-79968632-CGG-ATC c.982_984delinsATC p.R328I Missense 6/24 - 1
5-79968632-C-T c.982C>T p.R328W Missense 6/24 - 2
5-79968633-G-A c.983G>A p.R328Q Missense 6/24 - 1
5-79968636-A-G c.986A>G p.K329R Missense 6/24 - 1
5-79968638-T-C c.988T>C p.L330= Synonymous 6/24 - 1
5-79968639-T-G c.989T>G p.L330W Missense 6/24 - 1
5-79968641-A-G c.991A>G p.T331A Missense 6/24 - 1
5-79968643-T-A c.993T>A p.T331= Synonymous 6/24 - 1
5-79968644-G-A c.994G>A p.A332T Missense 6/24 - 2
5-79968645-C-T c.995C>T p.A332V Missense 6/24 - 1
5-79968647-C-T c.997C>T p.L333F Missense 6/24 - 1
5-79968651-A-T c.1001A>T p.Y334F Missense 6/24 - 1
5-79968651-A-AT c.1002dup p.T335Yfs*18 Frameshift 6/24 - 1
5-79968656-A-C c.1006A>C p.K336Q Missense 6/24 - 1
5-79968656-A-G c.1006A>G p.K336E Missense 6/24 - 1
5-79968660-C-T c.1010C>T p.S337F Missense 6/24 - 1
5-79968663-C-T c.1013C>T p.T338I Missense 6/24 - 1
5-79968669-T-C c.1019T>C p.I340T Missense 6/24 - 1
5-79968672-G-A c.1022G>A p.G341E Missense 6/24 - 2
5-79968674-G-A c.1024G>A p.E342K Missense 6/24 - 1
5-79968676-A-T c.1026A>T p.E342D Missense 6/24 - 1
5-79968677-G-A c.1027G>A p.D343N Missense 6/24 - 1
5-79968677-G-C c.1027G>C p.D343H Missense 6/24 - 1
5-79968677-G-T c.1027G>T p.D343Y Missense 6/24 - 3
5-79968679-T-A c.1027+2T>A - IntronicSNV - 6/23 1
5-79968681-T-C c.1027+4T>C - IntronicSNV - 6/23 1
5-79968692-C-T c.1027+15C>T - IntronicSNV - 6/23 2
5-79970805-T-G c.1031T>G p.V344G Missense 7/24 - 1
5-79970806-G-A c.1032G>A p.V344= Synonymous 7/24 - 1
5-79970806-G-C c.1032G>C p.V344= Synonymous 7/24 - 1
5-79970806-G-T c.1032G>T p.V344= Synonymous 7/24 - 1
5-79970808-A-C c.1034A>C p.N345T Missense 7/24 - 1
5-79970809-AT-A c.1035del p.L347* Frameshift 7/24 - 3
5-79970809-T-A c.1035T>A p.N345K Missense 7/24 - 1
5-79970811-C-A c.1037C>A p.P346H Missense 7/24 - 1
5-79970811-C-G c.1037C>G p.P346R Missense 7/24 - 1
5-79970811-C-T c.1037C>T p.P346L Missense 7/24 - 2
5-79970812-C-T c.1038C>T p.P346= Synonymous 7/24 - 1
5-79970814-CT-C c.1040del p.L347Qfs*8 Frameshift 7/24 - 1
5-79970818-C-G c.1044C>G p.I348M Missense 7/24 - 1
5-79970818-C-T c.1044C>T p.I348= Synonymous 7/24 - 3
5-79970825-G-A c.1051G>A p.D351N Missense 7/24 - 2
5-79970825-G-T c.1051G>T p.D351Y Missense 7/24 - 1
5-79970826-A-G c.1052A>G p.D351G Missense 7/24 - 1
5-79970833-T-A c.1059T>A p.A353= Synonymous 7/24 - 1
5-79970833-T-C c.1059T>C p.A353= Synonymous 7/24 - 1
5-79970833-T-G c.1059T>G p.A353= Synonymous 7/24 - 1
5-79970833-T-TG c.1060dup p.V354Gfs*4 Frameshift 7/24 - 1
5-79970834-G-A c.1060G>A p.V354I Missense 7/24 - 1
5-79970835-T-C c.1061T>C p.V354A Missense 7/24 - 1
5-79970840-G-A c.1066G>A p.V356I Missense 7/24 - 1
5-79970840-G-C c.1066G>C p.V356L Missense 7/24 - 1
5-79970840-G-T c.1066G>T p.V356F Missense 7/24 - 1
5-79970844-A-C c.1070A>C p.D357A Missense 7/24 - 1
5-79970845-T-A c.1071T>A p.D357E Missense 7/24 - 1
5-79970845-T-G c.1071T>G p.D357E Missense 7/24 - 1
5-79970849-A-C c.1075A>C p.I359L Missense 7/24 - 1
5-79970849-A-T c.1075A>T p.I359L Missense 7/24 - 1
5-79970851-A-G c.1077A>G p.I359M Missense 7/24 - 1
5-79970856-C-T c.1082C>T p.T361I Missense 7/24 - 1
5-79970858-G-A c.1084G>A p.D362N Missense 7/24 - 1
5-79970859-A-C c.1085A>C p.D362A Missense 7/24 - 1
5-79970859-A-G c.1085A>G p.D362G Missense 7/24 - 1
5-79970862-C-A c.1088C>A p.T363N Missense 7/24 - 1
5-79970862-C-T c.1088C>T p.T363I Missense 7/24 - 4
5-79970865-C-T c.1091C>T p.S364F Missense 7/24 - 2
5-79970867-A-C c.1093A>C p.T365P Missense 7/24 - 1
5-79970868-C-T c.1094C>T p.T365I Missense 7/24 - 1
5-79970871-G-A c.1097G>A p.S366N Missense 7/24 - 1
5-79970873-T-C c.1099T>C p.Y367H Missense 7/24 - 1
5-79970879-C-T c.1105C>T p.L369= Synonymous 7/24 - 1
5-79970879-CT-TC c.1105_1106delinsTC p.L369S Missense 7/24 - 1
5-79970882-T-A c.1108T>A p.C370S Missense 7/24 - 1
5-79970882-T-G c.1108T>G p.C370G Missense 7/24 - 1
5-79970882-TG-AC c.1108_1109delinsAC p.C370T Missense 7/24 - 1
5-79970884-C-T c.1110C>T p.C370= Synonymous 7/24 - 1
5-79970886-T-C c.1112T>C p.I371T Missense 7/24 - 1
5-79970889-C-T c.1115C>T p.S372F Missense 7/24 - 2
5-79970891-G-A c.1117G>A p.E373K Missense 7/24 - 1
5-79970894-A-C c.1120A>C p.N374H Missense 7/24 - 2
5-79970896-T-G c.1122T>G p.N374K Missense 7/24 - 1
5-79970890-TGAAAATAAG-T c.1123_1131del p.K375_N377del InFrameDeletion 7/24 - 1
5-79970897-A-C c.1123A>C p.K375Q Missense 7/24 - 1
5-79970898-A-T c.1124A>T p.K375M Missense 7/24 - 1
5-79970901-A-G c.1127A>G p.E376G Missense 7/24 - 1
5-79970903-AAAT-A c.1129_1131del p.N377del InFrameDeletion 7/24 - 1
5-79970903-A-C c.1129A>C p.N377H Missense 7/24 - 2
5-79970907-T-C c.1133T>C p.V378A Missense 7/24 - 2
5-79970909-A-T c.1135A>T p.R379W Missense 7/24 - 1
5-79970911-G-GT c.1137_1138insT p.D380* Nonsense 7/24 - 2
5-79970912-G-A c.1138G>A p.D380N Missense 7/24 - 1
5-79970912-G-C c.1138G>C p.D380H Missense 7/24 - 2
5-79970914-C-A c.1140C>A p.D380E Missense 7/24 - 2
5-79970914-C-CT c.1140_1141insT p.K381* Nonsense 7/24 - 5
5-79970914-C-G c.1140C>G p.D380E Missense 7/24 - 1
5-79970915-A-C c.1141A>C p.K381Q Missense 7/24 - 2
5-79970915-A-T c.1141A>T p.K381* Nonsense 7/24 - 1
5-79970917-A-C c.1143A>C p.K381N Missense 7/24 - 1
5-79970917-A-T c.1143A>T p.K381N Missense 7/24 - 1
5-79970914-CAAA-C c.1146_1148del p.K383del InFrameDeletion 7/24 - 1
5-79970920-A-AT c.1146_1147insT p.K383* Nonsense 7/24 - 7
5-79970914-CAA-C c.1147_1148del p.K383Gfs*20 Frameshift 7/24 - 4
5-79970914-CA-C c.1148del p.K383Rfs*32 Frameshift 7/24 - 46
5-79970914-C-CA c.1148dup p.N385Qfs*19 Frameshift 7/24 - 7
5-79970922-A-G c.1148A>G p.K383R Missense 7/24 - 1
5-79970924-G-A c.1150G>A p.G384S Missense 7/24 - 1
5-79970922-A-AG c.1151dup p.N385Qfs*19 Frameshift 7/24 - 1
5-79970925-G-GC c.1152dup p.N385Qfs*19 Frameshift 7/24 - 2
5-79970927-A-T c.1153A>T p.N385Y Missense 7/24 - 1
5-79970928-A-T c.1154A>T p.N385I Missense 7/24 - 1
5-79970932-T-A c.1158T>A p.I386= Synonymous 7/24 - 1
5-79970932-T-C c.1158T>C p.I386= Synonymous 7/24 - 1
5-79970934-T-A c.1160T>A p.F387Y Missense 7/24 - 2
5-79970936-A-G c.1162A>G p.I388V Missense 7/24 - 1
5-79970936-A-T c.1162A>T p.I388F Missense 7/24 - 1
5-79970938-T-A c.1164T>A p.I388= Synonymous 7/24 - 1
5-79970938-T-C c.1164T>C p.I388= Synonymous 7/24 - 1
5-79970939-G-T c.1165G>T p.G389C Missense 7/24 - 1
5-79970940-G-A c.1166G>A p.G389D Missense 7/24 - 1
5-79970942-ATT-TAA c.1168_1170delinsTAA p.I390* Nonsense 7/24 - 1
5-79970945-G-A c.1171G>A p.V391M Missense 7/24 - 1
5-79973270-G-A c.1174-1476G>A - IntronicSNV - 7/23 4
5-79974570-G-A c.1174-176G>A - IntronicSNV - 7/23 2
5-79974646-T-C c.1174-100T>C - IntronicSNV - 7/23 5
5-79974747-G-A c.1175G>A p.G392E Missense 8/24 - 1
5-79974749-G-A c.1177G>A p.V393M Missense 8/24 - 6
5-79974750-T-C c.1178T>C p.V393A Missense 8/24 - 2
5-79974752-C-T c.1180C>T p.Q394* Nonsense 8/24 - 1
5-79974756-C-T c.1184C>T p.P395L Missense 8/24 - 2
5-79974758-G-A c.1186G>A p.A396T Missense 8/24 - 1
5-79974759-C-T c.1187C>T p.A396V Missense 8/24 - 2
5-79974762-CA-TG c.1190_1191inv p.T397M Missense 8/24 - 1
5-79974762-C-T c.1190C>T p.T397I Missense 8/24 - 1
5-79974764-G-A c.1192G>A p.G398S Missense 8/24 - 1
5-79974764-GGC-TGA c.1192_1194delinsTGA p.G398* Nonsense 8/24 - 1
5-79974766-C-A c.1194C>A p.G398= Synonymous 8/24 - 1
5-79974766-C-G c.1194C>G p.G398= Synonymous 8/24 - 1
5-79974766-C-T c.1194C>T p.G398= Synonymous 8/24 - 1
5-79974767-G-A c.1195G>A p.E399K Missense 8/24 - 2
5-79974768-A-C c.1196A>C p.E399A Missense 8/24 - 1
5-79974768-A-G c.1196A>G p.E399G Missense 8/24 - 2
5-79974769-G-C c.1197G>C p.E399D Missense 8/24 - 1
5-79974773-G-A c.1201G>A p.V401M Missense 8/24 - 1
5-79974774-T-A c.1202T>A p.V401E Missense 8/24 - 1
5-79974781-T-G c.1209T>G p.D403E Missense 8/24 - 1
5-79974782-A-C c.1210A>C p.S404R Missense 8/24 - 1
5-79974784-T-A c.1212T>A p.S404R Missense 8/24 - 1
5-79974784-T-G c.1212T>G p.S404R Missense 8/24 - 1
5-79974786-T-C c.1214T>C p.F405S Missense 8/24 - 1
5-79974787-C-T c.1215C>T p.F405= Synonymous 8/24 - 1
5-79974786-TC-T c.1216del p.Q406Rfs*9 Frameshift 8/24 - 1
5-79974788-C-G c.1216C>G p.Q406E Missense 8/24 - 1
5-79974791-G-A c.1219G>A p.D407N Missense 8/24 - 2
5-79974792-A-G c.1220A>G p.D407G Missense 8/24 - 1
5-79974794-T-G c.1222T>G p.S408A Missense 8/24 - 1
5-79974795-C-T c.1223C>T p.S408F Missense 8/24 - 1
5-79974797-GC-TG c.1225_1226delinsTG p.A409C Missense 8/24 - 1
5-79974798-C-G c.1226C>G p.A409G Missense 8/24 - 1
5-79974801-C-T c.1229C>T p.S410F Missense 8/24 - 1
5-79974803-C-T c.1231C>T p.R411C Missense 8/24 - 7
5-79974804-G-A c.1232G>A p.R411H Missense 8/24 - 2
5-79974804-G-T c.1232G>T p.R411L Missense 8/24 - 1
5-79974807-C-A c.1235C>A p.S412* Nonsense 8/24 - 1
5-79974807-C-G c.1235C>G p.S412* Nonsense 8/24 - 2
5-79974807-C-T c.1235C>T p.S412L Missense 8/24 - 1
5-79974808-A-G c.1236A>G p.S412= Synonymous 8/24 - 2
5-79974809-G-A c.1237G>A p.E413K Missense 8/24 - 1
5-79974809-G-T c.1237G>T p.E413* Nonsense 8/24 - 1
5-79974810-A-C c.1238A>C p.E413A Missense 8/24 - 1
5-79974812-C-T c.1240C>T p.L414= Synonymous 8/24 - 1
5-79974813-T-C c.1241T>C p.L414P Missense 8/24 - 1
5-79974818-A-C c.1246A>C p.T416P Missense 8/24 - 1
5-79974821-C-T c.1249C>T p.R417W Missense 8/24 - 9
5-79974822-G-A c.1250G>A p.R417Q Missense 8/24 - 3
5-79974822-G-T c.1250G>T p.R417L Missense 8/24 - 1
5-79974828-C-T c.1256C>T p.S419L Missense 8/24 - 1
5-79974830-A-G c.1258A>G p.S420G Missense 8/24 - 1
5-79974832-C-T c.1260C>T p.S420= Synonymous 8/24 - 1
5-79974834-T-C c.1262T>C p.L421P Missense 8/24 - 1
5-79974835-G-A c.1263G>A p.L421= Synonymous 8/24 - 1
5-79974840-C-A c.1268C>A p.P423Q Missense 8/24 - 1
5-79974840-C-T c.1268C>T p.P423L Missense 8/24 - 1
5-79974841-A-C c.1269A>C p.P423= Synonymous 8/24 - 1
5-79974841-A-G c.1269A>G p.P423= Synonymous 8/24 - 1
5-79974841-A-T c.1269A>T p.P423= Synonymous 8/24 - 1
5-79974842-G-A c.1270G>A p.V424I Missense 8/24 - 2
5-79974842-GTA-ATG c.1270_1272delinsATG p.V424M Missense 8/24 - 1
5-79974845-G-A c.1273G>A p.E425K Missense 8/24 - 1
5-79974845-G-C c.1273G>C p.E425Q Missense 8/24 - 1
5-79974846-A-G c.1274A>G p.E425G Missense 8/24 - 1
5-79974847-G-T c.1275G>T p.E425D Missense 8/24 - 1
5-79974848-CTG-TTT c.1276_1278delinsTTT p.L426F Missense 8/24 - 1
5-79974849-T-C c.1277T>C p.L426P Missense 8/24 - 1
5-79974850-G-C c.1278G>C p.L426= Synonymous 8/24 - 1
5-79974854-C-T c.1282C>T p.L428F Missense 8/24 - 2
5-79974857-C-T c.1285C>T p.P429S Missense 8/24 - 2
5-79974858-C-G c.1286C>G p.P429R Missense 8/24 - 1
5-79974858-C-T c.1286C>T p.P429L Missense 8/24 - 1
5-79974861-C-T c.1289C>T p.S430L Missense 8/24 - 5
5-79974864-C-G c.1292C>G p.A431G Missense 8/24 - 1
5-79974866-T-G c.1294T>G p.L432V Missense 8/24 - 1
5-79974867-T-G c.1295T>G p.L432W Missense 8/24 - 1
5-79974869-TC-AT c.1297_1298delinsAT p.S433I Missense 8/24 - 1
5-79974870-C-T c.1298C>T p.S433F Missense 8/24 - 1
5-79974871-C-A c.1299C>A p.S433= Synonymous 8/24 - 1
5-79974871-C-T c.1299C>T p.S433= Synonymous 8/24 - 1
5-79974872-G-A c.1300G>A p.E434K Missense 8/24 - 1
5-79974872-G-C c.1300G>C p.E434Q Missense 8/24 - 1
5-79974872-G-T c.1300G>T p.E434* Nonsense 8/24 - 1
5-79974878-A-G c.1306A>G p.T436A Missense 8/24 - 1
5-79974879-C-T c.1307C>T p.T436I Missense 8/24 - 1
5-79974881-G-C c.1309G>C p.E437Q Missense 8/24 - 1
5-79974879-CAG-C c.1310_1311del p.E437Gfs*10 Frameshift 8/24 - 1
5-79974880-AGAGGC-A c.1310_1314del p.E437Afs*9 Frameshift 8/24 - 1
5-79974883-AGG-A c.1311_1312del p.E437Dfs*10 Frameshift 8/24 - 1
5-79974885-C-T c.1313C>T p.A438V Missense 8/24 - 6
5-79974887-CT-AG c.1315_1316inv p.L439S Missense 8/24 - 1
5-79974892-C-G c.1320C>G p.I440M Missense 8/24 - 1
5-79974893-C-T c.1321C>T p.H441Y Missense 8/24 - 3
5-79974895-C-A c.1323C>A p.H441Q Missense 8/24 - 1
5-79974896-A-G c.1324A>G p.R442G Missense 8/24 - 1
5-79974901-C-T c.1329C>T p.A443= Synonymous 8/24 - 1
5-79974902-AC-GG c.1330_1331delinsGG p.T444G Missense 8/24 - 1
5-79974902-A-G c.1330A>G p.T444A Missense 8/24 - 1
5-79974903-CA-TG c.1331_1332inv p.T444M Missense 8/24 - 1
5-79974903-C-T c.1331C>T p.T444I Missense 8/24 - 1
5-79974908-G-C c.1336G>C p.V446L Missense 8/24 - 1
5-79974909-T-G c.1337T>G p.V446G Missense 8/24 - 1
5-79974912-G-C c.1340G>C p.S447T Missense 8/24 - 1
5-79974913-G-A c.1340+1G>A - IntronicSNV - 8/23 2
5-79974983-T-C c.1340+71T>C - IntronicSNV - 8/23 1
5-79976241-CA-C c.1340+1339del - IntronicDeletion - 8/23 1
5-79978223-GT-G c.1340+3322del - IntronicDeletion - 8/23 1
5-79983215-C-G c.1340+8303C>G - IntronicSNV - 8/23 3
5-79983800-G-C c.1340+8888G>C - IntronicSNV - 8/23 2
5-79984577-A-T c.1340+9665A>T - IntronicSNV - 8/23 1
5-79984679-T-C c.1340+9767T>C - IntronicSNV - 8/23 1
5-79987421-A-T c.1340+12509A>T - IntronicSNV - 8/23 2
5-79987706-G-A c.1340+12794G>A - IntronicSNV - 8/23 1
5-79988372-G-T c.1340+13460G>T - IntronicSNV - 8/23 1
5-79988644-A-G c.1340+13732A>G - IntronicSNV - 8/23 1
5-79990503-C-T c.1340+15591C>T - IntronicSNV - 8/23 1
5-79990883-T-C c.1340+15971T>C - IntronicSNV - 8/23 4
5-79990883-T-G c.1340+15971T>G - IntronicSNV - 8/23 4
5-79996384-GT-G c.1340+21482del - IntronicDeletion - 8/23 1
5-79996632-A-G c.1340+21720A>G - IntronicSNV - 8/23 1
5-79996632-A-T c.1340+21720A>T - IntronicSNV - 8/23 1
5-80001170-C-T c.1341-20102C>T - IntronicSNV - 8/23 3
5-80001785-A-G c.1341-19487A>G - IntronicSNV - 8/23 2
5-80004042-A-G c.1341-17230A>G - IntronicSNV - 8/23 1
5-80004739-G-A c.1341-16533G>A - IntronicSNV - 8/23 1
5-80004739-G-T c.1341-16533G>T - IntronicSNV - 8/23 1
5-80006558-C-T c.1341-14714C>T - IntronicSNV - 8/23 1
5-80006982-G-A c.1341-14290G>A - IntronicSNV - 8/23 1
5-80008564-A-G c.1341-12708A>G - IntronicSNV - 8/23 1
5-80008704-T-C c.1341-12568T>C - IntronicSNV - 8/23 3
5-80016874-T-C c.1341-4398T>C - IntronicSNV - 8/23 3
5-80018244-A-G c.1341-3028A>G - IntronicSNV - 8/23 1
5-80018857-G-A c.1341-2415G>A - IntronicSNV - 8/23 1
5-80019172-A-G c.1341-2100A>G - IntronicSNV - 8/23 1
5-80021168-A-C c.1341-104A>C - IntronicSNV - 8/23 1
5-80021193-C-T c.1341-79C>T - IntronicSNV - 8/23 4
5-80021270-A-G c.1341-2A>G - IntronicSNV - 8/23 1
5-80021271-G-T c.1341-1G>T - IntronicSNV - 8/23 2
5-80021273-G-A c.1342G>A p.V448M Missense 9/24 - 1
5-80021276-C-G c.1345C>G p.Q449E Missense 9/24 - 1
5-80021276-C-T c.1345C>T p.Q449* Nonsense 9/24 - 1
5-80021279-G-A c.1348G>A p.D450N Missense 9/24 - 1
5-80021279-G-T c.1348G>T p.D450Y Missense 9/24 - 2
5-80021280-A-C c.1349A>C p.D450A Missense 9/24 - 1
5-80021280-A-G c.1349A>G p.D450G Missense 9/24 - 1
5-80021285-A-G c.1354A>G p.R452G Missense 9/24 - 1
5-80021286-G-A c.1355G>A p.R452K Missense 9/24 - 1
5-80021288-A-G c.1357A>G p.I453V Missense 9/24 - 1
5-80021291-CGA-TGG c.1360_1362delinsTGG p.R454W Missense 9/24 - 1
5-80021291-C-T c.1360C>T p.R454* Nonsense 9/24 - 6
5-80021292-G-A c.1361G>A p.R454Q Missense 9/24 - 5
5-80021292-G-T c.1361G>T p.R454L Missense 9/24 - 7
5-80021293-A-T c.1362A>T p.R454= Synonymous 9/24 - 1
5-80021295-T-C c.1364T>C p.V455A Missense 9/24 - 1
5-80021296-C-T c.1365C>T p.V455= Synonymous 9/24 - 4
5-80021297-G-A c.1366G>A p.E456K Missense 9/24 - 2
5-80021300-AG-CA c.1369_1370delinsCA p.R457Q Missense 9/24 - 1
5-80021299-AAGGATGGAT-A c.1370_1378del p.R457_D459del InFrameDeletion 9/24 - 1
5-80021301-G-A c.1370G>A p.R457K Missense 9/24 - 1
5-80021301-G-T c.1370G>T p.R457M Missense 9/24 - 1
5-80021303-A-G c.1372A>G p.M458V Missense 9/24 - 1
5-80021305-G-A c.1374G>A p.M458I Missense 9/24 - 2
5-80021305-G-C c.1374G>C p.M458I Missense 9/24 - 1
5-80021305-G-T c.1374G>T p.M458I Missense 9/24 - 1
5-80021306-G-T c.1375G>T p.D459Y Missense 9/24 - 1
5-80021308-T-A c.1377T>A p.D459E Missense 9/24 - 1
5-80021308-T-G c.1377T>G p.D459E Missense 9/24 - 1
5-80021309-A-G c.1378A>G p.N460D Missense 9/24 - 1
5-80021310-A-C c.1379A>C p.N460T Missense 9/24 - 1
5-80021310-A-G c.1379A>G p.N460S Missense 9/24 - 1
5-80021312-A-G c.1381A>G p.I461V Missense 9/24 - 1
5-80021313-T-A c.1382T>A p.I461N Missense 9/24 - 1
5-80021321-G-A c.1390G>A p.E464K Missense 9/24 - 1
5-80021325-A-G c.1394A>G p.Y465C Missense 9/24 - 7
5-80021327-A-G c.1396A>G p.S466G Missense 9/24 - 5
5-80021328-G-A c.1397G>A p.S466N Missense 9/24 - 2
5-80021329-C-T c.1398C>T p.S466= Synonymous 9/24 - 2
5-80021328-GC-G c.1399del p.H467Mfs*29 Frameshift 9/24 - 1
5-80021330-C-A c.1399C>A p.H467N Missense 9/24 - 2
5-80021330-C-T c.1399C>T p.H467Y Missense 9/24 - 1
5-80021333-G-C c.1402G>C p.A468P Missense 9/24 - 2
5-80021335-T-A c.1404T>A p.A468= Synonymous 9/24 - 1
5-80021338-C-T c.1407C>T p.F469= Synonymous 9/24 - 2
5-80021339-C-A c.1408C>A p.Q470K Missense 9/24 - 1
5-80021342-G-A c.1411G>A p.A471T Missense 9/24 - 1
5-80021343-C-A c.1412C>A p.A471E Missense 9/24 - 1
5-80021343-C-T c.1412C>T p.A471V Missense 9/24 - 2
5-80021346-T-A c.1415T>A p.V472D Missense 9/24 - 1
5-80021347-T-TA c.1417dup p.T473Nfs*10 Frameshift 9/24 - 1
5-80021349-C-T c.1418C>T p.T473I Missense 9/24 - 1
5-80021351-G-T c.1420G>T p.E474* Nonsense 9/24 - 2
5-80021349-CAG-C c.1421_1422del p.E474Vfs*8 Frameshift 9/24 - 1
5-80021352-A-G c.1421A>G p.E474G Missense 9/24 - 1
5-80021353-G-T c.1422G>T p.E474D Missense 9/24 - 1
5-80021354-T-G c.1423T>G p.F475V Missense 9/24 - 1
5-80021360-G-T c.1429G>T p.A477S Missense 9/24 - 1
5-80021361-C-T c.1430C>T p.A477V Missense 9/24 - 1
5-80021362-A-C c.1431A>C p.A477= Synonymous 9/24 - 1
5-80021363-A-G c.1432A>G p.K478E Missense 9/24 - 1
5-80021366-G-A c.1435G>A p.D479N Missense 9/24 - 1
5-80021366-G-C c.1435G>C p.D479H Missense 9/24 - 1
5-80021366-G-T c.1435G>T p.D479Y Missense 9/24 - 3
5-80021367-A-G c.1436A>G p.D479G Missense 9/24 - 2
5-80021370-C-T c.1439C>T p.T480I Missense 9/24 - 1
5-80021375-G-A c.1444G>A p.D482N Missense 9/24 - 2
5-80021381-A-G c.1450A>G p.K484E Missense 9/24 - 1
5-80021384-G-A c.1453G>A p.G485S Missense 9/24 - 1
5-80021384-G-T c.1453G>T p.G485C Missense 9/24 - 1
5-80021386-T-C c.1453+2T>C - IntronicSNV - 9/23 1
5-80021399-T-C c.1453+15T>C - IntronicSNV - 9/23 1
5-80021445-A-C c.1453+61A>C - IntronicSNV - 9/23 3
5-80021445-A-T c.1453+61A>T - IntronicSNV - 9/23 1
5-80024608-A-G c.1454-62A>G - IntronicSNV - 9/23 2
5-80024619-T-C c.1454-51T>C - IntronicSNV - 9/23 1
5-80024619-T-G c.1454-51T>G - IntronicSNV - 9/23 1
5-80024670-G-A c.1454G>A p.G485D Missense 10/24 - 2
5-80024673-C-T c.1457C>T p.S486F Missense 10/24 - 1
5-80024675-C-A c.1459C>A p.Q487K Missense 10/24 - 1
5-80024675-C-G c.1459C>G p.Q487E Missense 10/24 - 5
5-80024675-C-T c.1459C>T p.Q487* Nonsense 10/24 - 1
5-80024677-A-C c.1461A>C p.Q487H Missense 10/24 - 1
5-80024678-A-C c.1462A>C p.I488L Missense 10/24 - 1
5-80024679-T-C c.1463T>C p.I488T Missense 10/24 - 2
5-80024682-TTTC-T c.1468_1470del p.S490del InFrameDeletion 10/24 - 1
5-80024685-C-A c.1469C>A p.S490Y Missense 10/24 - 4
5-80024685-C-T c.1469C>T p.S490F Missense 10/24 - 1
5-80024690-A-G c.1474A>G p.I492V Missense 10/24 - 1
5-80024690-A-T c.1474A>T p.I492F Missense 10/24 - 1
5-80024693-G-A c.1477G>A p.V493I Missense 10/24 - 1
5-80024694-T-C c.1478T>C p.V493A Missense 10/24 - 2
5-80024695-TA-T c.1481del p.N494Tfs*2 Frameshift 10/24 - 1
5-80024705-A-G c.1489A>G p.K497E Missense 10/24 - 1
5-80024707-G-C c.1491G>C p.K497N Missense 10/24 - 1
5-80024707-G-T c.1491G>T p.K497N Missense 10/24 - 1
5-80024712-T-A c.1496T>A p.V499E Missense 10/24 - 1
5-80024718-G-A c.1502G>A p.C501Y Missense 10/24 - 1
5-80024719-C-G c.1503C>G p.C501W Missense 10/24 - 1
5-80024719-C-T c.1503C>T p.C501= Synonymous 10/24 - 1
5-80024721-C-G c.1505C>G p.S502C Missense 10/24 - 3
5-80024721-C-T c.1505C>T p.S502F Missense 10/24 - 1
5-80024726-G-T c.1510G>T p.A504S Missense 10/24 - 1
5-80024727-C-A c.1511C>A p.A504D Missense 10/24 - 1
5-80024727-C-T c.1511C>T p.A504V Missense 10/24 - 2
5-80024729-G-A c.1513G>A p.A505T Missense 10/24 - 2
5-80024730-C-G c.1514C>G p.A505G Missense 10/24 - 1
5-80024733-T-C c.1517T>C p.I506T Missense 10/24 - 1
5-80024734-C-A c.1518C>A p.I506= Synonymous 10/24 - 1
5-80024734-C-T c.1518C>T p.I506= Synonymous 10/24 - 1
5-80024735-A-G c.1519A>G p.I507V Missense 10/24 - 2
5-80024738-A-G c.1522A>G p.K508E Missense 10/24 - 2
5-80024739-A-G c.1523A>G p.K508R Missense 10/24 - 2
5-80024743-C-A c.1527C>A p.Y509* Nonsense 10/24 - 1
5-80024743-C-G c.1527C>G p.Y509* Nonsense 10/24 - 1
5-80024743-C-T c.1527C>T p.Y509= Synonymous 10/24 - 4
5-80024744-C-G c.1528C>G p.L510V Missense 10/24 - 1
5-80024744-C-T c.1528C>T p.L510F Missense 10/24 - 3
5-80024746-C-G c.1530C>G p.L510= Synonymous 10/24 - 2
5-80024748-A-G c.1532A>G p.K511R Missense 10/24 - 1
5-80024750-G-A c.1534G>A p.E512K Missense 10/24 - 2
5-80024750-G-T c.1534G>T p.E512* Nonsense 10/24 - 4
5-80024755-C-G c.1539C>G p.F513L Missense 10/24 - 1
5-80024763-A-G c.1547A>G p.E516G Missense 10/24 - 2
5-80024767-G-A c.1551G>A p.K517= Synonymous 10/24 - 4
5-80024774-T-G c.1558T>G p.S520A Missense 10/24 - 1
5-80024776-C-A c.1560C>A p.S520= Synonymous 10/24 - 1
5-80024776-C-G c.1560C>G p.S520= Synonymous 10/24 - 1
5-80024776-C-T c.1560C>T p.S520= Synonymous 10/24 - 1
5-80024780-C-T c.1564C>T p.P522S Missense 10/24 - 1
5-80024779-AC-A c.1565del p.P522Lfs*14 Frameshift 10/24 - 1
5-80024781-C-A c.1565C>A p.P522H Missense 10/24 - 1
5-80024781-C-T c.1565C>T p.P522L Missense 10/24 - 1
5-80024783-G-A c.1567G>A p.E523K Missense 10/24 - 5
5-80024784-A-G c.1568A>G p.E523G Missense 10/24 - 1
5-80025001-G-A c.1568+217G>A - IntronicSNV - 10/23 1
5-80025281-A-G c.1568+497A>G - IntronicSNV - 10/23 1
5-80025471-G-A c.1568+687G>A - IntronicSNV - 10/23 1
5-80026268-C-T c.1568+1484C>T - IntronicSNV - 10/23 1
5-80026377-C-T c.1568+1593C>T - IntronicSNV - 10/23 1
5-80026713-A-G c.1568+1929A>G - IntronicSNV - 10/23 1
5-80026713-A-T c.1568+1929A>T - IntronicSNV - 10/23 1
5-80033835-A-G c.1569-3448A>G - IntronicSNV - 10/23 3
5-80035750-A-T c.1569-1533A>T - IntronicSNV - 10/23 2
5-80037283-G-C c.1569G>C p.E523D Missense 11/24 - 1
5-80037283-G-T c.1569G>T p.E523D Missense 11/24 - 1
5-80037285-A-C c.1571A>C p.N524T Missense 11/24 - 5
5-80037288-T-C c.1574T>C p.F525S Missense 11/24 - 1
5-80037289-T-G c.1575T>G p.F525L Missense 11/24 - 1
5-80037290-A-C c.1576A>C p.K526Q Missense 11/24 - 1
5-80037292-A-T c.1578A>T p.K526N Missense 11/24 - 1
5-80037293-C-T c.1579C>T p.Q527* Nonsense 11/24 - 1
5-80037295-GC-AG c.1581_1582delinsAG p.L528V Missense 11/24 - 1
5-80037299-AT-A c.1585del p.S529Qfs*7 Frameshift 11/24 - 1
5-80037300-C-A c.1586C>A p.S529* Nonsense 11/24 - 1
5-80037300-C-G c.1586C>G p.S529* Nonsense 11/24 - 1
5-80037300-C-T c.1586C>T p.S529L Missense 11/24 - 1
5-80037302-A-T c.1588A>T p.S530C Missense 11/24 - 1
5-80037303-G-A c.1589G>A p.S530N Missense 11/24 - 1
5-80037303-G-T c.1589G>T p.S530I Missense 11/24 - 1
5-80037306-A-G c.1592A>G p.K531R Missense 11/24 - 1
5-80037310-G-A c.1596G>A p.M532I Missense 11/24 - 1
5-80037314-T-A c.1600T>A p.F534I Missense 11/24 - 1
5-80037316-T-C c.1602T>C p.F534= Synonymous 11/24 - 1
5-80037319-G-A c.1605G>A p.M535I Missense 11/24 - 1
5-80037319-G-C c.1605G>C p.M535I Missense 11/24 - 1
5-80037319-G-T c.1605G>T p.M535I Missense 11/24 - 1
5-80037321-C-T c.1607C>T p.T536I Missense 11/24 - 1
5-80037326-A-G c.1612A>G p.N538D Missense 11/24 - 1
5-80037330-G-A c.1616G>A p.G539E Missense 11/24 - 1
5-80037330-G-T c.1616G>T p.G539V Missense 11/24 - 1
5-80037333-C-A c.1619C>A p.T540K Missense 11/24 - 1
5-80037333-CA-TG c.1619_1620inv p.T540M Missense 11/24 - 1
5-80037335-A-G c.1621A>G p.T541A Missense 11/24 - 1
5-80037337-A-AT c.1625dup p.L542Ffs*12 Frameshift 11/24 - 1
5-80037341-AG-TA c.1627_1628delinsTA p.R543* Nonsense 11/24 - 1
5-80037343-G-C c.1629G>C p.R543S Missense 11/24 - 3
5-80037343-G-T c.1629G>T p.R543S Missense 11/24 - 1
5-80037347-C-A c.1633C>A p.L545M Missense 11/24 - 1
5-80037350-G-A c.1636G>A p.E546K Missense 11/24 - 1
5-80037353-A-G c.1639A>G p.I547V Missense 11/24 - 1
5-80037355-C-T c.1641C>T p.I547= Synonymous 11/24 - 3
5-80037354-TC-T c.1642del p.L548Yfs*7 Frameshift 11/24 - 1
5-80037361-G-C c.1647G>C p.Q549H Missense 11/24 - 1
5-80037363-A-G c.1649A>G p.N550S Missense 11/24 - 1
5-80037364-T-A c.1650T>A p.N550K Missense 11/24 - 2
5-80037364-T-G c.1650T>G p.N550K Missense 11/24 - 1
5-80037365-C-G c.1651C>G p.Q551E Missense 11/24 - 3
5-80037366-A-T c.1652A>T p.Q551L Missense 11/24 - 2
5-80037367-G-C c.1653G>C p.Q551H Missense 11/24 - 1
5-80037368-G-A c.1653+1G>A - IntronicSNV - 11/23 2
5-80037371-A-G c.1653+4A>G - IntronicSNV - 11/23 1
5-80040326-C-T c.1655C>T p.T552I Missense 12/24 - 2
5-80040328-G-A c.1657G>A p.D553N Missense 12/24 - 1
5-80040330-T-A c.1659T>A p.D553E Missense 12/24 - 1
5-80040330-T-C c.1659T>C p.D553= Synonymous 12/24 - 1
5-80040330-T-G c.1659T>G p.D553E Missense 12/24 - 1
5-80040333-G-A c.1662G>A p.M554I Missense 12/24 - 2
5-80040333-G-C c.1662G>C p.M554I Missense 12/24 - 1
5-80040333-G-T c.1662G>T p.M554I Missense 12/24 - 1
5-80040337-AC-TG c.1666_1667delinsTG p.T556C Missense 12/24 - 1
5-80040338-C-T c.1667C>T p.T556I Missense 12/24 - 1
5-80040339-C-CT c.1668_1669insT p.K557* Nonsense 12/24 - 1
5-80040341-A-G c.1670A>G p.K557R Missense 12/24 - 1
5-80040343-G-A c.1672G>A p.G558R Missense 12/24 - 1
5-80040343-G-C c.1672G>C p.G558R Missense 12/24 - 1
5-80040347-G-A c.1676G>A p.S559N Missense 12/24 - 1
5-80040351-G-C c.1680G>C p.L560F Missense 12/24 - 1
5-80040351-G-T c.1680G>T p.L560F Missense 12/24 - 1
5-80040352-C-G c.1681C>G p.L561V Missense 12/24 - 1
5-80040352-C-T c.1681C>T p.L561= Synonymous 12/24 - 1
5-80040354-G-A c.1683G>A p.L561= Synonymous 12/24 - 1
5-80040354-G-C c.1683G>C p.L561= Synonymous 12/24 - 1
5-80040354-G-T c.1683G>T p.L561= Synonymous 12/24 - 1
5-80040356-G-A c.1685G>A p.W562* Nonsense 12/24 - 1
5-80040357-G-A c.1686G>A p.W562* Nonsense 12/24 - 1
5-80040358-G-A c.1687G>A p.V563I Missense 12/24 - 1
5-80040370-A-G c.1699A>G p.T567A Missense 12/24 - 1
5-80040371-C-A c.1700C>A p.T567N Missense 12/24 - 1
5-80040371-C-T c.1700C>T p.T567I Missense 12/24 - 2
5-80040373-A-C c.1702A>C p.K568Q Missense 12/24 - 1
5-80040374-A-T c.1703A>T p.K568I Missense 12/24 - 1
5-80040376-A-G c.1705A>G p.T569A Missense 12/24 - 1
5-80040377-C-T c.1706C>T p.T569I Missense 12/24 - 1
5-80040380-C-A c.1709C>A p.S570* Nonsense 12/24 - 2
5-80040380-CA-TT c.1709_1710delinsTT p.S570F Missense 12/24 - 1
5-80040380-C-G c.1709C>G p.S570* Nonsense 12/24 - 2
5-80040385-G-A c.1714G>A p.G572R Missense 12/24 - 1
5-80040385-G-C c.1714G>C p.G572R Missense 12/24 - 1
5-80040385-G-T c.1714G>T p.G572W Missense 12/24 - 1
5-80040388-AG-CA c.1717_1718delinsCA p.R573Q Missense 12/24 - 1
5-80040389-G-A c.1718G>A p.R573K Missense 12/24 - 4
5-80040391-C-A c.1720C>A p.R574= Synonymous 12/24 - 1
5-80040391-CG-TA c.1720_1721delinsTA p.R574* Nonsense 12/24 - 1
5-80040391-C-T c.1720C>T p.R574W Missense 12/24 - 1
5-80040392-G-A c.1721G>A p.R574Q Missense 12/24 - 5
5-80040395-A-G c.1724A>G p.K575R Missense 12/24 - 2
5-80040402-G-A c.1731G>A p.K577= Synonymous 12/24 - 2
5-80040407-G-T c.1736G>T p.W579L Missense 12/24 - 1
5-80040410-T-C c.1739T>C p.V580A Missense 12/24 - 3
5-80040412-A-C c.1741A>C p.T581P Missense 12/24 - 4
5-80040413-C-T c.1742C>T p.T581I Missense 12/24 - 1
5-80040415-C-A c.1744C>A p.Q582K Missense 12/24 - 1
5-80040418-C-T c.1747C>T p.P583S Missense 12/24 - 1
5-80040420-CA-C c.1749del p.L584Sfs*4 Frameshift 12/24 - 1
5-80040421-C-T c.1750C>T p.L584F Missense 12/24 - 1
5-80040422-T-C c.1751T>C p.L584P Missense 12/24 - 1
5-80040423-C-T c.1752C>T p.L584= Synonymous 12/24 - 1
5-80040424-C-T c.1753C>T p.L585F Missense 12/24 - 1
5-80040428-A-C c.1757A>C p.K586T Missense 12/24 - 1
5-80040424-CTTAAA-C c.1758_1762del p.L587Gfs*7 SpliceDonorDeletion 12/24 - 1
5-80040434-G-A c.1763G>A p.R588K Missense 12/24 - 2
5-80040509-G-A c.1763+75G>A - IntronicSNV - 12/23 1
5-80040532-A-G c.1763+98A>G - IntronicSNV - 12/23 6
5-80040674-T-G c.1763+240T>G - IntronicSNV - 12/23 2
5-80040694-T-C c.1763+260T>C - IntronicSNV - 12/23 3
5-80040694-T-G c.1763+260T>G - IntronicSNV - 12/23 2
5-80042275-T-G c.1763+1841T>G - IntronicSNV - 12/23 7
5-80043099-C-CT c.1763+2674dup - IntronicInsertion - 12/23 1
5-80045866-CT-C c.1763+5442del - IntronicDeletion - 12/23 1
5-80047017-A-C c.1763+6583A>C - IntronicSNV - 12/23 1
5-80047057-A-C c.1763+6623A>C - IntronicSNV - 12/23 1
5-80047076-A-C c.1763+6642A>C - IntronicSNV - 12/23 3
5-80049892-A-G c.1764-7473A>G - IntronicSNV - 12/23 3
5-80050981-T-A c.1764-6384T>A - IntronicSNV - 12/23 2
5-80050981-T-G c.1764-6384T>G - IntronicSNV - 12/23 2
5-80056961-C-T c.1764-404C>T - IntronicSNV - 12/23 1
5-80057337-G-A c.1764-28G>A - IntronicSNV - 12/23 1
5-80057363-A-G c.1764-2A>G - IntronicSNV - 12/23 1
5-80057364-G-A c.1764-1G>A - IntronicSNV - 12/23 3
5-80057366-G-A c.1765G>A p.E589K Missense 13/24 - 2
5-80057372-A-C c.1771A>C p.N591H Missense 13/24 - 1
5-80057375-G-A c.1774G>A p.A592T Missense 13/24 - 1
5-80057375-G-C c.1774G>C p.A592P Missense 13/24 - 1
5-80057376-C-G c.1775C>G p.A592G Missense 13/24 - 1
5-80057376-C-T c.1775C>T p.A592V Missense 13/24 - 1
5-80057378-C-A c.1777C>A p.R593= Synonymous 13/24 - 1
5-80057378-C-T c.1777C>T p.R593W Missense 13/24 - 6
5-80057380-G-A c.1779G>A p.R593= Synonymous 13/24 - 1
5-80057380-G-C c.1779G>C p.R593= Synonymous 13/24 - 1
5-80057380-G-T c.1779G>T p.R593= Synonymous 13/24 - 1
5-80057379-G-A c.1778G>A p.R593Q Missense 13/24 - 1
5-80057379-G-T c.1778G>T p.R593L Missense 13/24 - 1
5-80057386-T-G c.1785T>G p.D595E Missense 13/24 - 1
5-80057387-G-A c.1786G>A p.A596T Missense 13/24 - 1
5-80057388-C-G c.1787C>G p.A596G Missense 13/24 - 1
5-80057390-G-A c.1789G>A p.V597I Missense 13/24 - 1
5-80057393-TC-AG c.1792_1793delinsAG p.S598R Missense 13/24 - 1
5-80057394-C-G c.1793C>G p.S598W Missense 13/24 - 1
5-80057394-C-T c.1793C>T p.S598L Missense 13/24 - 6
5-80057395-G-A c.1794G>A p.S598= Synonymous 13/24 - 2
5-80057395-G-C c.1794G>C p.S598= Synonymous 13/24 - 1
5-80057395-G-T c.1794G>T p.S598= Synonymous 13/24 - 1
5-80057396-G-A c.1795G>A p.E599K Missense 13/24 - 1
5-80057399-G-A c.1798G>A p.V600I Missense 13/24 - 2
5-80057400-T-A c.1799T>A p.V600D Missense 13/24 - 3
5-80057400-T-C c.1799T>C p.V600A Missense 13/24 - 1
5-80057400-TT-AG c.1799_1800delinsAG p.V600E Missense 13/24 - 10
5-80057402-C-T c.1801C>T p.L601F Missense 13/24 - 1
5-80057404-C-A c.1803C>A p.L601= Synonymous 13/24 - 1
5-80057404-C-G c.1803C>G p.L601= Synonymous 13/24 - 1
5-80057404-C-T c.1803C>T p.L601= Synonymous 13/24 - 1
5-80057405-C-T c.1804C>T p.H602Y Missense 13/24 - 1
5-80057409-C-T c.1808C>T p.S603L Missense 13/24 - 1
5-80057411-G-A c.1810G>A p.E604K Missense 13/24 - 1
5-80057414-T-C c.1813T>C p.S605P Missense 13/24 - 1
5-80057415-C-T c.1814C>T p.S605F Missense 13/24 - 1
5-80057417-A-G c.1816A>G p.S606G Missense 13/24 - 1
5-80057420-GTG-ATC c.1819_1821delinsATC p.V607I Missense 13/24 - 1
5-80057427-G-A c.1826G>A p.G609D Missense 13/24 - 1
5-80057431-G-A c.1830G>A p.Q610= Synonymous 13/24 - 1
5-80057432-A-G c.1831A>G p.I611V Missense 13/24 - 1
5-80057435-G-A c.1834G>A p.E612K Missense 13/24 - 2
5-80057437-AAAATCAT-A c.1836_1842del p.E612Dfs*8 Frameshift 13/24 - 1
5-80057441-C-A c.1840C>A p.H614N Missense 13/24 - 1
5-80057441-C-G c.1840C>G p.H614D Missense 13/24 - 1
5-80057441-C-T c.1840C>T p.H614Y Missense 13/24 - 9
5-80057444-C-T c.1843C>T p.L615= Synonymous 13/24 - 1
5-80057447-C-G c.1846C>G p.R616G Missense 13/24 - 1
5-80057447-C-T c.1846C>T p.R616C Missense 13/24 - 3
5-80057448-G-A c.1847G>A p.R616H Missense 13/24 - 2
5-80057451-A-T c.1850A>T p.K617I Missense 13/24 - 1
5-80057453-ATTG-A c.1852_1854del p.L618del InFrameDeletion 13/24 - 1
5-80057454-T-G c.1853T>G p.L618W Missense 13/24 - 5
5-80057459-G-A c.1858G>A p.D620N Missense 13/24 - 7
5-80057460-A-G c.1859A>G p.D620G Missense 13/24 - 1
5-80057461-AC-A c.1860del p.D620Efs*2 Frameshift 13/24 - 1
5-80057468-A-G c.1867A>G p.R623G Missense 13/24 - 2
5-80057468-A-T c.1867A>T p.R623W Missense 13/24 - 1
5-80057469-G-A c.1868G>A p.R623K Missense 13/24 - 5
5-80057470-G-A c.1869G>A p.R623= Synonymous 13/24 - 1
5-80057470-G-T c.1869G>T p.R623S Missense 13/24 - 1
5-80057471-G-A c.1870G>A p.G624R Missense 13/24 - 1
5-80057471-G-T c.1870G>T p.G624* Nonsense 13/24 - 1
5-80057473-A-G c.1872A>G p.G624= Synonymous 13/24 - 1
5-80057473-A-T c.1872A>T p.G624= Synonymous 13/24 - 1
5-80057476-C-A c.1875C>A p.L625= Synonymous 13/24 - 3
5-80057476-C-G c.1875C>G p.L625= Synonymous 13/24 - 3
5-80057476-C-T c.1875C>T p.L625= Synonymous 13/24 - 4
5-80057484-T-C c.1883T>C p.I628T Missense 13/24 - 1
5-80057488-T-A c.1887T>A p.Y629* Nonsense 13/24 - 1
5-80057489-C-G c.1888C>G p.H630D Missense 13/24 - 4
5-80057489-C-T c.1888C>T p.H630Y Missense 13/24 - 1
5-80057496-A-C c.1895A>C p.K632T Missense 13/24 - 3
5-80057491-C-CA c.1896dup p.C633Mfs*28 SpliceDonorInsertion - - 1
5-80057497-A-G c.1896A>G p.K632= Synonymous 13/24 - 3
5-80057498-G-A c.1896+1G>A - IntronicSNV - 13/23 1
5-80057825-GA-G c.1896+338del - IntronicDeletion - 13/23 1
5-80058439-AT-A c.1896+952del - IntronicDeletion - 13/23 1
5-80059203-C-T c.1896+1706C>T - IntronicSNV - 13/23 5
5-80060016-G-A c.1896+2519G>A - IntronicSNV - 13/23 4
5-80063548-C-G c.1897-204C>G - IntronicSNV - 13/23 1
5-80063744-A-G c.1897-8A>G - IntronicSNV - 13/23 1
5-80063746-T-C c.1897-6T>C - IntronicSNV - 13/23 1
5-80063753-G-A c.1898G>A p.C633Y Missense 14/24 - 2
5-80063756-C-A c.1901C>A p.S634Y Missense 14/24 - 1
5-80063761-C-A c.1906C>A p.Q636K Missense 14/24 - 1
5-80063765-A-C c.1910A>C p.E637A Missense 14/24 - 4
5-80063765-A-G c.1910A>G p.E637G Missense 14/24 - 1
5-80063766-G-C c.1911G>C p.E637D Missense 14/24 - 2
5-80063766-G-T c.1911G>T p.E637D Missense 14/24 - 4
5-80063769-C-T c.1914C>T p.F638= Synonymous 14/24 - 1
5-80063770-T-A c.1915T>A p.F639I Missense 14/24 - 1
5-80063772-C-G c.1917C>G p.F639L Missense 14/24 - 1
5-80063766-GTTC-G c.1917_1919del p.F639del InFrameDeletion 14/24 - 1
5-80063775-G-C c.1920G>C p.L640F Missense 14/24 - 4
5-80063775-G-T c.1920G>T p.L640F Missense 14/24 - 2
5-80063779-G-T c.1924G>T p.V642F Missense 14/24 - 1
5-80063780-T-C c.1925T>C p.V642A Missense 14/24 - 1
5-80063781-TC-T c.1926del p.T644Lfs*5 Frameshift 14/24 - 1
5-80063783-A-G c.1928A>G p.K643R Missense 14/24 - 1
5-80063786-C-T c.1931C>T p.T644I Missense 14/24 - 1
5-80063791-TA-GC c.1936_1937delinsGC p.Y646A Missense 14/24 - 1
5-80063792-A-G c.1937A>G p.Y646C Missense 14/24 - 1
5-80063792-A-T c.1937A>T p.Y646F Missense 14/24 - 1
5-80063794-C-A c.1939C>A p.H647N Missense 14/24 - 1
5-80063794-C-G c.1939C>G p.H647D Missense 14/24 - 2
5-80063796-C-T c.1941C>T p.H647= Synonymous 14/24 - 2
5-80063801-A-C c.1946A>C p.K649T Missense 14/24 - 1
5-80063804-C-T c.1949C>T p.S650L Missense 14/24 - 1
5-80063806-G-T c.1951G>T p.E651* Nonsense 14/24 - 1
5-80063808-A-C c.1953A>C p.E651D Missense 14/24 - 1
5-80063808-A-T c.1953A>T p.E651D Missense 14/24 - 1
5-80063812-C-G c.1957C>G p.Q653E Missense 14/24 - 1
5-80063812-C-T c.1957C>T p.Q653* Nonsense 14/24 - 1
5-80063813-A-G c.1958A>G p.Q653R Missense 14/24 - 1
5-80063814-A-T c.1959A>T p.Q653H Missense 14/24 - 1
5-80063815-G-A c.1960G>A p.A654T Missense 14/24 - 2
5-80063817-A-C c.1962A>C p.A654= Synonymous 14/24 - 1
5-80063817-A-G c.1962A>G p.A654= Synonymous 14/24 - 1
5-80063817-A-T c.1962A>T p.A654= Synonymous 14/24 - 1
5-80063818-A-G c.1963A>G p.I655V Missense 14/24 - 1
5-80063819-T-C c.1964T>C p.I655T Missense 14/24 - 1
5-80063823-A-G c.1968A>G p.I656M Missense 14/24 - 2
5-80063824-C-T c.1969C>T p.P657S Missense 14/24 - 2
5-80063825-C-A c.1970C>A p.P657H Missense 14/24 - 1
5-80063825-C-T c.1970C>T p.P657L Missense 14/24 - 1
5-80063827-G-A c.1972G>A p.A658T Missense 14/24 - 1
5-80063832-T-A c.1977T>A p.V659= Synonymous 14/24 - 1
5-80063832-T-C c.1977T>C p.V659= Synonymous 14/24 - 1
5-80063832-T-G c.1977T>G p.V659= Synonymous 14/24 - 1
5-80063834-A-T c.1979A>T p.N660I Missense 14/24 - 1
5-80063845-C-T c.1990C>T p.Q664* Nonsense 14/24 - 3
5-80063847-G-A c.1992G>A p.Q664= Synonymous 14/24 - 2
5-80063849-C-T c.1994C>T p.S665L Missense 14/24 - 1
5-80063857-C-T c.2002C>T p.L668F Missense 14/24 - 1
5-80063860-C-T c.2005C>T p.R669W Missense 14/24 - 6
5-80063861-G-A c.2006G>A p.R669Q Missense 14/24 - 5
5-80063861-G-T c.2006G>T p.R669L Missense 14/24 - 1
5-80063863-AC-TG c.2008_2009delinsTG p.T670C Missense 14/24 - 1
5-80063864-C-T c.2009C>T p.T670I Missense 14/24 - 1
5-80063865-C-A c.2010C>A p.T670= Synonymous 14/24 - 1
5-80063865-C-G c.2010C>G p.T670= Synonymous 14/24 - 1
5-80063865-C-T c.2010C>T p.T670= Synonymous 14/24 - 1
5-80063866-G-A c.2011G>A p.V671I Missense 14/24 - 2
5-80063867-T-C c.2012T>C p.V671A Missense 14/24 - 1
5-80063868-T-A c.2013T>A p.V671= Synonymous 14/24 - 1
5-80063868-T-C c.2013T>C p.V671= Synonymous 14/24 - 1
5-80063868-T-G c.2013T>G p.V671= Synonymous 14/24 - 1
5-80063875-G-T c.2020G>T p.E674* Nonsense 14/24 - 1
5-80063879-T-A c.2024T>A p.I675N Missense 14/24 - 3
5-80063879-T-G c.2024T>G p.I675S Missense 14/24 - 1
5-80063881-C-T c.2026C>T p.P676S Missense 14/24 - 1
5-80063882-C-A c.2027C>A p.P676H Missense 14/24 - 1
5-80063884-G-A c.2029G>A p.E677K Missense 14/24 - 1
5-80063886-A-T c.2031A>T p.E677D Missense 14/24 - 1
5-80063887-C-T c.2032C>T p.L678F Missense 14/24 - 2
5-80063888-T-C c.2033T>C p.L678P Missense 14/24 - 1
5-80063890-C-T c.2035C>T p.L679F Missense 14/24 - 1
5-80063891-T-C c.2036T>C p.L679P Missense 14/24 - 1
5-80063896-C-T c.2041C>T p.P681S Missense 14/24 - 13
5-80063897-C-T c.2042C>T p.P681L Missense 14/24 - 1
5-80063899-G-A c.2044G>A p.V682M Missense 14/24 - 1
5-80063899-G-C c.2044G>C p.V682L Missense 14/24 - 6
5-80063899-G-T c.2044G>T p.V682L Missense 14/24 - 2
5-80063902-G-C c.2047G>C p.E683Q Missense 14/24 - 1
5-80063902-G-T c.2047G>T p.E683* Nonsense 14/24 - 1
5-80063904-G-C c.2049G>C p.E683D Missense 14/24 - 2
5-80063904-G-T c.2049G>T p.E683D Missense 14/24 - 1
5-80063909-A-T c.2054A>T p.Y685F Missense 14/24 - 1
5-80063915-A-C c.2060A>C p.K687T Missense 14/24 - 1
5-80063915-A-G c.2060A>G p.K687R Missense 14/24 - 1
5-80063916-G-C c.2061G>C p.K687N Missense 14/24 - 2
5-80063916-G-T c.2061G>T p.K687N Missense 14/24 - 1
5-80063919-A-G c.2064A>G p.I688M Missense 14/24 - 1
5-80063920-C-T c.2065C>T p.L689F Missense 14/24 - 1
5-80063921-T-C c.2066T>C p.L689P Missense 14/24 - 1
5-80063922-C-T c.2067C>T p.L689= Synonymous 14/24 - 1
5-80063924-A-G c.2069A>G p.N690S Missense 14/24 - 1
5-80063924-A-T c.2069A>T p.N690I Missense 14/24 - 1
5-80063926-G-A c.2071G>A p.E691K Missense 14/24 - 3
5-80063926-G-C c.2071G>C p.E691Q Missense 14/24 - 1
5-80063933-C-T c.2078C>T p.A693V Missense 14/24 - 1
5-80063935-G-A c.2080G>A p.A694T Missense 14/24 - 1
5-80063935-G-T c.2080G>T p.A694S Missense 14/24 - 1
5-80063937-C-A c.2082C>A p.A694= Synonymous 14/24 - 1
5-80063937-C-G c.2082C>G p.A694= Synonymous 14/24 - 1
5-80063937-C-T c.2082C>T p.A694= Synonymous 14/24 - 1
5-80064101-A-G c.2084+162A>G - IntronicSNV - 14/23 1
5-80064654-A-T c.2085A>T p.K695N Missense 15/24 - 1
5-80064655-AG-A c.2086del p.V696Lfs*16 Frameshift 15/24 - 1
5-80064655-G-A c.2086G>A p.V696I Missense 15/24 - 1
5-80064660-G-T c.2091G>T p.G697= Synonymous 15/24 - 1
5-80064661-G-A c.2092G>A p.D698N Missense 15/24 - 1
5-80064662-A-G c.2093A>G p.D698G Missense 15/24 - 1
5-80064664-A-T c.2095A>T p.K699* Nonsense 15/24 - 1
5-80064663-TA-T c.2098del p.T700Lfs*12 Frameshift 15/24 - 1
5-80064667-AC-TG c.2098_2099delinsTG p.T700C Missense 15/24 - 1
5-80064671-A-T c.2102A>T p.E701V Missense 15/24 - 1
5-80064677-T-C c.2108T>C p.F703S Missense 15/24 - 1
5-80064679-A-G c.2110A>G p.K704E Missense 15/24 - 1
5-80064680-A-G c.2111A>G p.K704R Missense 15/24 - 1
5-80064682-G-A c.2113G>A p.D705N Missense 15/24 - 1
5-80064683-A-G c.2114A>G p.D705G Missense 15/24 - 1
5-80064684-C-A c.2115C>A p.D705E Missense 15/24 - 2
5-80064684-C-G c.2115C>G p.D705E Missense 15/24 - 2
5-80064688-T-C c.2119T>C p.S707P Missense 15/24 - 1
5-80064689-C-T c.2120C>T p.S707F Missense 15/24 - 1
5-80064691-G-A c.2122G>A p.D708N Missense 15/24 - 3
5-80064694-T-C c.2125T>C p.F709L Missense 15/24 - 4
5-80064696-C-A c.2127C>A p.F709L Missense 15/24 - 2
5-80064696-C-G c.2127C>G p.F709L Missense 15/24 - 2
5-80064695-T-G c.2126T>G p.F709C Missense 15/24 - 1
5-80064696-C-T c.2127C>T p.F709= Synonymous 15/24 - 1
5-80064697-C-T c.2128C>T p.P710S Missense 15/24 - 1
5-80064698-C-A c.2129C>A p.P710H Missense 15/24 - 1
5-80064700-TT-CA c.2131_2132delinsCA p.L711Q Missense 15/24 - 1
5-80064701-T-A c.2132T>A p.L711* Nonsense 15/24 - 1
5-80064701-TTAATAAAAA-T c.2132_2140del p.L711_K714delins* MultiAAMissense 15/24 - 1
5-80064704-T-A c.2135T>A p.I712K Missense 15/24 - 2
5-80064704-T-C c.2135T>C p.I712T Missense 15/24 - 2
5-80064704-TA-T c.2141del p.K714Rfs*24 Frameshift 15/24 - 1
5-80064704-T-TA c.2141dup p.R715Efs*4 Frameshift 15/24 - 3
5-80064710-A-G c.2141A>G p.K714R Missense 15/24 - 1
5-80064711-G-A c.2142G>A p.K714= Synonymous 15/24 - 1
5-80064719-A-G c.2150A>G p.D717G Missense 15/24 - 1
5-80064726-T-G c.2157T>G p.I719M Missense 15/24 - 1
5-80064731-G-C c.2162G>C p.G721A Missense 15/24 - 3
5-80064733-G-A c.2164G>A p.V722I Missense 15/24 - 1
5-80064733-G-T c.2164G>T p.V722F Missense 15/24 - 1
5-80064741-C-G c.2172C>G p.D724E Missense 15/24 - 1
5-80064741-C-T c.2172C>T p.D724= Synonymous 15/24 - 4
5-80064742-G-A c.2173G>A p.E725K Missense 15/24 - 7
5-80064742-G-T c.2173G>T p.E725* Nonsense 15/24 - 1
5-80064743-A-G c.2174A>G p.E725G Missense 15/24 - 1
5-80064744-G-C c.2175G>C p.E725D Missense 15/24 - 2
5-80064744-G-T c.2175G>T p.E725D Missense 15/24 - 4
5-80064745-A-C c.2176A>C p.I726L Missense 15/24 - 2
5-80064747-C-T c.2178C>T p.I726= Synonymous 15/24 - 1
5-80064748-C-T c.2179C>T p.R727* Nonsense 15/24 - 5
5-80064749-G-A c.2180G>A p.R727Q Missense 15/24 - 5
5-80064753-G-A c.2184G>A p.M728I Missense 15/24 - 1
5-80064753-G-C c.2184G>C p.M728I Missense 15/24 - 1
5-80064753-G-T c.2184G>T p.M728I Missense 15/24 - 1
5-80064754-C-A c.2185C>A p.H729N Missense 15/24 - 2
5-80064754-C-G c.2185C>G p.H729D Missense 15/24 - 1
5-80064754-C-T c.2185C>T p.H729Y Missense 15/24 - 1
5-80064755-A-G c.2186A>G p.H729R Missense 15/24 - 1
5-80064756-T-A c.2187T>A p.H729Q Missense 15/24 - 9
5-80064756-T-G c.2187T>G p.H729Q Missense 15/24 - 6
5-80064758-T-C c.2189T>C p.L730S Missense 15/24 - 1
5-80064760-C-G c.2191C>G p.Q731E Missense 15/24 - 1
5-80064760-C-T c.2191C>T p.Q731* Nonsense 15/24 - 1
5-80064762-A-T c.2193A>T p.Q731H Missense 15/24 - 1
5-80064763-G-T c.2194G>T p.E732* Nonsense 15/24 - 1
5-80064764-A-C c.2195A>C p.E732A Missense 15/24 - 1
5-80064769-C-T c.2200C>T p.R734* Nonsense 15/24 - 1
5-80064770-CG-C c.2201del p.R734Qfs*4 Frameshift 15/24 - 1
5-80064773-A-G c.2204A>G p.K735R Missense 15/24 - 1
5-80064781-A-T c.2212A>T p.K738* Nonsense 15/24 - 1
5-80064779-T-TA c.2216dup p.N739Kfs*29 Frameshift 15/24 - 1
5-80064785-A-G c.2216A>G p.N739S Missense 15/24 - 2
5-80064786-T-A c.2217T>A p.N739K Missense 15/24 - 1
5-80064786-T-G c.2217T>G p.N739K Missense 15/24 - 1
5-80064787-C-T c.2218C>T p.P740S Missense 15/24 - 5
5-80064788-C-T c.2219C>T p.P740L Missense 15/24 - 1
5-80064793-G-A c.2224G>A p.A742T Missense 15/24 - 2
5-80064794-C-G c.2225C>G p.A742G Missense 15/24 - 1
5-80064794-C-T c.2225C>T p.A742V Missense 15/24 - 1
5-80064796-C-T c.2227C>T p.Q743* Nonsense 15/24 - 1
5-80064800-A-C c.2231A>C p.Y744S Missense 15/24 - 2
5-80064800-A-T c.2231A>T p.Y744F Missense 15/24 - 1
5-80064806-C-T c.2237C>T p.T746I Missense 15/24 - 1
5-80064808-G-A c.2239G>A p.V747I Missense 15/24 - 2
5-80064808-GT-AA c.2239_2240delinsAA p.V747K Missense 15/24 - 1
5-80064809-T-C c.2240T>C p.V747A Missense 15/24 - 1
5-80064810-A-C c.2241A>C p.V747= Synonymous 15/24 - 1
5-80064812-C-G c.2243C>G p.S748* Nonsense 15/24 - 3
5-80064812-C-T c.2243C>T p.S748L Missense 15/24 - 1
5-80064815-G-A c.2246G>A p.G749E Missense 15/24 - 1
5-80064817-C-T c.2248C>T p.Q750* Nonsense 15/24 - 2
5-80064819-G-C c.2250G>C p.Q750H Missense 15/24 - 1
5-80064819-G-T c.2250G>T p.Q750H Missense 15/24 - 1
5-80064820-G-A c.2251G>A p.E751K Missense 15/24 - 2
5-80064823-G-T c.2253+1G>T - IntronicSNV - 15/23 1
5-80065428-A-T c.2253+606A>T - IntronicSNV - 15/23 1
5-80067446-T-C c.2253+2624T>C - IntronicSNV - 15/23 2
5-80071494-T-G c.2254-19T>G - IntronicSNV - 15/23 2
5-80071519-A-G c.2260A>G p.I754V Missense 16/24 - 1
5-80071521-A-G c.2262A>G p.I754M Missense 16/24 - 3
5-80071522-G-A c.2263G>A p.E755K Missense 16/24 - 1
5-80071527-A-T c.2268A>T p.I756= Synonymous 16/24 - 1
5-80071530-G-C c.2271G>C p.K757N Missense 16/24 - 2
5-80071530-G-T c.2271G>T p.K757N Missense 16/24 - 5
5-80071532-A-G c.2273A>G p.N758S Missense 16/24 - 2
5-80071534-T-C c.2275T>C p.S759P Missense 16/24 - 1
5-80071535-C-T c.2276C>T p.S759F Missense 16/24 - 4
5-80071537-G-A c.2278G>A p.A760T Missense 16/24 - 1
5-80071538-C-G c.2279C>G p.A760G Missense 16/24 - 1
5-80071538-C-T c.2279C>T p.A760V Missense 16/24 - 1
5-80071540-G-A c.2281G>A p.V761I Missense 16/24 - 1
5-80071540-G-T c.2281G>T p.V761L Missense 16/24 - 2
5-80071544-C-G c.2285C>G p.S762C Missense 16/24 - 1
5-80071544-C-T c.2285C>T p.S762F Missense 16/24 - 3
5-80071547-G-A c.2288G>A p.C763Y Missense 16/24 - 3
5-80071547-G-T c.2288G>T p.C763F Missense 16/24 - 2
5-80071549-AT-GC c.2290_2291delinsGC p.I764A Missense 16/24 - 1
5-80071550-T-C c.2291T>C p.I764T Missense 16/24 - 1
5-80071550-T-G c.2291T>G p.I764R Missense 16/24 - 1
5-80071550-T-TA c.2292dup p.P765Tfs*3 Frameshift 16/24 - 1
5-80071552-CC-TG c.2293_2294delinsTG p.P765* Missense 16/24 - 1
5-80071553-C-T c.2294C>T p.P765L Missense 16/24 - 5
5-80071554-A-C c.2295A>C p.P765= Synonymous 16/24 - 3
5-80071554-A-G c.2295A>G p.P765= Synonymous 16/24 - 3
5-80071554-A-T c.2295A>T p.P765= Synonymous 16/24 - 3
5-80071555-AC-GG c.2296_2297delinsGG p.T766G Missense 16/24 - 1
5-80071555-A-G c.2296A>G p.T766A Missense 16/24 - 1
5-80071556-C-T c.2297C>T p.T766I Missense 16/24 - 2
5-80071556-CTGAT-C c.2300_2303del p.D767Gfs*2 Frameshift 16/24 - 1
5-80071559-A-G c.2300A>G p.D767G Missense 16/24 - 1
5-80071562-G-T c.2303G>T p.W768L Missense 16/24 - 2
5-80071561-TG-T c.2305del p.V769* Frameshift 16/24 - 1
5-80071564-G-A c.2305G>A p.V769I Missense 16/24 - 2
5-80071570-G-A c.2311G>A p.V771I Missense 16/24 - 1
5-80071570-G-T c.2311G>T p.V771F Missense 16/24 - 1
5-80071573-G-A c.2314G>A p.G772R Missense 16/24 - 5
5-80071574-G-C c.2315G>C p.G772A Missense 16/24 - 1
5-80071574-G-T c.2315G>T p.G772V Missense 16/24 - 1
5-80071720-T-C c.2318+143T>C - IntronicSNV - 16/23 1
5-80071709-C-CT c.2318+145dup - IntronicInsertion - 16/23 1
5-80071709-CT-C c.2318+145del - IntronicDeletion - 16/23 1
5-80071763-T-C c.2318+186T>C - IntronicSNV - 16/23 1
5-80073634-C-T c.2319-905C>T - IntronicSNV - 16/23 1
5-80074503-C-T c.2319-36C>T - IntronicSNV - 16/23 1
5-80074538-G-A c.2319-1G>A - IntronicSNV - 16/23 1
5-80074538-G-C c.2319-1G>C - IntronicSNV - 16/23 1
5-80074539-C-CA c.2320dup p.T774Nfs*29 SpliceAcceptorInsertion 17/24 - 1
5-80074544-A-G c.2324A>G p.K775R Missense 17/24 - 1
5-80074546-G-A c.2326G>A p.A776T Missense 17/24 - 1
5-80074547-C-T c.2327C>T p.A776V Missense 17/24 - 1
5-80074549-G-A c.2329G>A p.V777M Missense 17/24 - 2
5-80074550-GTGA-G c.2330_2332del p.V777_S778delinsG MultiAAMissense 17/24 - 1
5-80074553-G-A c.2333G>A p.S778N Missense 17/24 - 1
5-80074556-G-A c.2336G>A p.R779H Missense 17/24 - 5
5-80074556-G-T c.2336G>T p.R779L Missense 17/24 - 1
5-80074558-T-G c.2338T>G p.F780V Missense 17/24 - 1
5-80074561-C-T c.2341C>T p.H781Y Missense 17/24 - 1
5-80074562-A-G c.2342A>G p.H781R Missense 17/24 - 1
5-80074562-A-T c.2342A>T p.H781L Missense 17/24 - 1
5-80074565-C-T c.2345C>T p.S782F Missense 17/24 - 6
5-80074567-C-A c.2347C>A p.P783T Missense 17/24 - 4
5-80074567-C-T c.2347C>T p.P783S Missense 17/24 - 3
5-80074568-C-A c.2348C>A p.P783H Missense 17/24 - 1
5-80074568-C-T c.2348C>T p.P783L Missense 17/24 - 1
5-80074572-T-A c.2352T>A p.F784L Missense 17/24 - 1
5-80074576-G-A c.2356G>A p.V786I Missense 17/24 - 1
5-80074577-T-A c.2357T>A p.V786E Missense 17/24 - 1
5-80074577-T-C c.2357T>C p.V786A Missense 17/24 - 1
5-80074579-G-A c.2359G>A p.E787K Missense 17/24 - 5
5-80074579-G-C c.2359G>C p.E787Q Missense 17/24 - 1
5-80074580-A-G c.2360A>G p.E787G Missense 17/24 - 1
5-80074583-A-C c.2363A>C p.N788T Missense 17/24 - 1
5-80074585-T-C c.2365T>C p.Y789H Missense 17/24 - 1
5-80074586-A-G c.2366A>G p.Y789C Missense 17/24 - 3
5-80074586-A-T c.2366A>T p.Y789F Missense 17/24 - 3
5-80074590-A-G c.2370A>G p.R790= Synonymous 17/24 - 1
5-80074594-C-CACTTTAGAAAA c.2374_2375insACTTTAGAAAA p.L792Hfs*5 Frameshift 17/24 - 1
5-80074594-C-T c.2374C>T p.L792= Synonymous 17/24 - 1
5-80074598-A-C c.2378A>C p.N793T Missense 17/24 - 1
5-80074600-C-T c.2380C>T p.Q794* Nonsense 17/24 - 3
5-80074602-G-T c.2382G>T p.Q794H Missense 17/24 - 1
5-80074604-T-A c.2384T>A p.L795H Missense 17/24 - 1
5-80074605-C-G c.2385C>G p.L795= Synonymous 17/24 - 1
5-80074606-C-T c.2386C>T p.R796W Missense 17/24 - 3
5-80074607-G-A c.2387G>A p.R796Q Missense 17/24 - 2
5-80074607-GG-AT c.2387_2388delinsAT p.R796H Missense 17/24 - 1
5-80074607-G-T c.2387G>T p.R796L Missense 17/24 - 2
5-80074609-G-A c.2389G>A p.E797K Missense 17/24 - 2
5-80074609-G-T c.2389G>T p.E797* Nonsense 17/24 - 3
5-80074612-C-T c.2392C>T p.Q798* Nonsense 17/24 - 1
5-80074615-CT-TA c.2395_2396delinsTA p.L799* Nonsense 17/24 - 1
5-80074618-G-A c.2398G>A p.V800I Missense 17/24 - 1
5-80074619-T-C c.2399T>C p.V800A Missense 17/24 - 1
5-80074623-T-A c.2403T>A p.L801= Synonymous 17/24 - 1
5-80074623-T-C c.2403T>C p.L801= Synonymous 17/24 - 1
5-80074623-T-G c.2403T>G p.L801= Synonymous 17/24 - 1
5-80074624-G-C c.2404G>C p.D802H Missense 17/24 - 1
5-80074624-G-T c.2404G>T p.D802Y Missense 17/24 - 6
5-80074627-T-TA c.2407_2408insA p.C803* Nonsense 17/24 - 1
5-80074628-G-GCTGAATGGCTTGATTCAGC c.2409_2410insTGAATGGCTTGATTCAGCC p.S804* Nonsense 17/24 - 1
5-80074629-C-A c.2409C>A p.C803* Nonsense 17/24 - 1
5-80074630-A-G c.2410A>G p.S804G Missense 17/24 - 1
5-80074631-G-C c.2411G>C p.S804T Missense 17/24 - 1
5-80074635-T-TG c.2416dup p.E806Gfs*4 Frameshift 17/24 - 1
5-80074636-G-A c.2416G>A p.E806K Missense 17/24 - 1
5-80074639-T-G c.2419T>G p.W807G Missense 17/24 - 1
5-80074640-G-A c.2420G>A p.W807* Nonsense 17/24 - 4
5-80074641-G-A c.2421G>A p.W807* Nonsense 17/24 - 4
5-80074641-G-T c.2421G>T p.W807C Missense 17/24 - 1
5-80074642-C-G c.2422C>G p.L808V Missense 17/24 - 1
5-80074645-G-A c.2425G>A p.D809N Missense 17/24 - 2
5-80074645-G-C c.2425G>C p.D809H Missense 17/24 - 1
5-80074646-AT-A c.2430del p.L811* Frameshift 17/24 - 1
5-80074651-C-A c.2431C>A p.L811I Missense 17/24 - 1
5-80074651-C-G c.2431C>G p.L811V Missense 17/24 - 1
5-80074654-G-C c.2434G>C p.E812Q Missense 17/24 - 1
5-80077128-G-T c.2435+2473G>T - IntronicSNV - 17/23 4
5-80078581-G-A c.2435+3926G>A - IntronicSNV - 17/23 3
5-80078581-G-C c.2435+3926G>C - IntronicSNV - 17/23 3
5-80078581-G-T c.2435+3926G>T - IntronicSNV - 17/23 3
5-80082865-A-G c.2436-519A>G - IntronicSNV - 17/23 1
5-80083371-G-T c.2436-13G>T - IntronicSNV - 17/23 1
5-80083383-G-A c.2436-1G>A - IntronicSNV - 17/23 1
5-80083384-G-GT c.2436_2437insT p.K813* SpliceAcceptorInsertion 18/24 - 1
5-80083385-A-T c.2437A>T p.K813* Nonsense 18/24 - 2
5-80083386-A-G c.2438A>G p.K813R Missense 18/24 - 3
5-80083387-A-T c.2439A>T p.K813N Missense 18/24 - 1
5-80083388-T-C c.2440T>C p.F814L Missense 18/24 - 1
5-80083388-T-G c.2440T>G p.F814V Missense 18/24 - 1
5-80083390-C-A c.2442C>A p.F814L Missense 18/24 - 1
5-80083389-T-G c.2441T>G p.F814C Missense 18/24 - 1
5-80083390-C-G c.2442C>G p.F814L Missense 18/24 - 2
5-80083392-G-A c.2444G>A p.S815N Missense 18/24 - 1
5-80083394-G-C c.2446G>C p.E816Q Missense 18/24 - 1
5-80083395-A-G c.2447A>G p.E816G Missense 18/24 - 3
5-80083399-T-A c.2451T>A p.H817Q Missense 18/24 - 1
5-80083399-T-G c.2451T>G p.H817Q Missense 18/24 - 1
5-80083403-C-T c.2455C>T p.H819Y Missense 18/24 - 1
5-80083404-A-G c.2456A>G p.H819R Missense 18/24 - 1
5-80083407-C-T c.2459C>T p.S820F Missense 18/24 - 1
5-80083411-G-C c.2463G>C p.L821F Missense 18/24 - 2
5-80083411-G-T c.2463G>T p.L821F Missense 18/24 - 2
5-80083413-G-A c.2465G>A p.C822Y Missense 18/24 - 1
5-80083418-G-A c.2470G>A p.A824T Missense 18/24 - 1
5-80083418-G-T c.2470G>T p.A824S Missense 18/24 - 3
5-80083419-C-T c.2471C>T p.A824V Missense 18/24 - 1
5-80083421-G-A c.2473G>A p.V825M Missense 18/24 - 1
5-80083427-C-A c.2479C>A p.H827N Missense 18/24 - 2
5-80083428-A-G c.2480A>G p.H827R Missense 18/24 - 5
5-80083429-C-G c.2481C>G p.H827Q Missense 18/24 - 1
5-80083429-C-T c.2481C>T p.H827= Synonymous 18/24 - 1
5-80083430-C-T c.2482C>T p.L828= Synonymous 18/24 - 1
5-80083439-GTT-ATG c.2491_2493delinsATG p.V831M Missense 18/24 - 1
5-80083442-G-T c.2494G>T p.D832Y Missense 18/24 - 1
5-80083446-G-A c.2498G>A p.C833Y Missense 18/24 - 1
5-80083446-G-T c.2498G>T p.C833F Missense 18/24 - 1
5-80083447-C-A c.2499C>A p.C833* Nonsense 18/24 - 1
5-80083450-T-C c.2502T>C p.I834= Synonymous 18/24 - 1
5-80083455-C-T c.2507C>T p.S836F Missense 18/24 - 3
5-80083456-C-A c.2508C>A p.S836= Synonymous 18/24 - 1
5-80083456-C-G c.2508C>G p.S836= Synonymous 18/24 - 1
5-80083456-C-T c.2508C>T p.S836= Synonymous 18/24 - 1
5-80083459-G-A c.2511G>A p.L837= Synonymous 18/24 - 1
5-80083463-A-G c.2515A>G p.K839E Missense 18/24 - 3
5-80083466-G-A c.2518G>A p.V840I Missense 18/24 - 2
5-80083468-C-A c.2520C>A p.V840= Synonymous 18/24 - 1
5-80083469-G-T c.2521G>T p.A841S Missense 18/24 - 3
5-80083470-C-G c.2522C>G p.A841G Missense 18/24 - 1
5-80083470-C-T c.2522C>T p.A841V Missense 18/24 - 1
5-80083475-C-G c.2527C>G p.Q843E Missense 18/24 - 1
5-80083475-C-T c.2527C>T p.Q843* Nonsense 18/24 - 1
5-80083478-G-A c.2530G>A p.G844R Missense 18/24 - 1
5-80083478-G-C c.2530G>C p.G844R Missense 18/24 - 1
5-80083479-G-A c.2531G>A p.G844E Missense 18/24 - 2
5-80083485-A-C c.2537A>C p.Y846S Missense 18/24 - 1
5-80083491-G-A c.2543G>A p.R848K Missense 18/24 - 1
5-80083491-G-T c.2543G>T p.R848I Missense 18/24 - 2
5-80083602-C-T c.2543+111C>T - IntronicSNV - 18/23 1
5-80083631-G-A c.2543+140G>A - IntronicSNV - 18/23 3
5-80084270-A-T c.2543+779A>T - IntronicSNV - 18/23 1
5-80086504-A-G c.2544-2048A>G - IntronicSNV - 18/23 1
5-80087876-C-T c.2544-676C>T - IntronicSNV - 18/23 1
5-80088494-T-G c.2544-58T>G - IntronicSNV - 18/23 1
5-80088553-C-A c.2545C>A p.P849T Missense 19/24 - 1
5-80088553-C-T c.2545C>T p.P849S Missense 19/24 - 1
5-80088552-AC-A c.2546del p.P849Qfs*10 Frameshift 19/24 - 1
5-80088557-C-T c.2549C>T p.T850I Missense 19/24 - 1
5-80088559-G-A c.2551G>A p.V851I Missense 19/24 - 1
5-80088562-C-T c.2554C>T p.Q852* Nonsense 19/24 - 1
5-80088563-A-G c.2555A>G p.Q852R Missense 19/24 - 3
5-80088565-G-A c.2557G>A p.E853K Missense 19/24 - 2
5-80088565-G-C c.2557G>C p.E853Q Missense 19/24 - 4
5-80088572-G-T c.2564G>T p.R855I Missense 19/24 - 2
5-80088582-A-T c.2574A>T p.V858= Synonymous 19/24 - 1
5-80088584-TA-T c.2582del p.N861Mfs*6 Frameshift 19/24 - 3
5-80088590-A-G c.2582A>G p.N861S Missense 19/24 - 1
5-80088593-G-A c.2585G>A p.G862E Missense 19/24 - 1
5-80088595-AG-TA c.2587_2588delinsTA p.R863* Nonsense 19/24 - 1
5-80088597-G-C c.2589G>C p.R863S Missense 19/24 - 1
5-80088599-A-C c.2591A>C p.H864P Missense 19/24 - 1
5-80088600-C-T c.2592C>T p.H864= Synonymous 19/24 - 1
5-80088601-C-T c.2593C>T p.P865S Missense 19/24 - 2
5-80088602-C-T c.2594C>T p.P865L Missense 19/24 - 1
5-80088607-A-C c.2599A>C p.I867L Missense 19/24 - 1
5-80088607-A-G c.2599A>G p.I867V Missense 19/24 - 7
5-80088608-T-C c.2600T>C p.I867T Missense 19/24 - 1
5-80088610-G-A c.2602G>A p.D868N Missense 19/24 - 2
5-80088611-A-G c.2603A>G p.D868G Missense 19/24 - 2
5-80088611-A-T c.2603A>T p.D868V Missense 19/24 - 1
5-80088613-G-A c.2605G>A p.V869M Missense 19/24 - 1
5-80088613-G-T c.2605G>T p.V869L Missense 19/24 - 2
5-80088615-G-A c.2607G>A p.V869= Synonymous 19/24 - 1
5-80088616-T-C c.2608T>C p.L870= Synonymous 19/24 - 1
5-80088618-G-A c.2610G>A p.L870= Synonymous 19/24 - 1
5-80088618-G-T c.2610G>T p.L870F Missense 19/24 - 1
5-80088619-C-T c.2611C>T p.L871= Synonymous 19/24 - 2
5-80088621-G-A c.2613G>A p.L871= Synonymous 19/24 - 2
5-80088621-G-C c.2613G>C p.L871= Synonymous 19/24 - 2
5-80088621-G-T c.2613G>T p.L871= Synonymous 19/24 - 2
5-80088622-G-A c.2614G>A p.G872R Missense 19/24 - 1
5-80088622-G-C c.2614G>C p.G872R Missense 19/24 - 1
5-80088622-G-T c.2614G>T p.G872* Nonsense 19/24 - 1
5-80088623-G-A c.2615G>A p.G872E Missense 19/24 - 4
5-80088623-G-T c.2615G>T p.G872V Missense 19/24 - 2
5-80088625-G-A c.2617G>A p.E873K Missense 19/24 - 1
5-80088625-G-T c.2617G>T p.E873* Nonsense 19/24 - 1
5-80088628-C-T c.2620C>T p.Q874* Nonsense 19/24 - 2
5-80088631-G-A c.2623G>A p.D875N Missense 19/24 - 2
5-80088631-G-C c.2623G>C p.D875H Missense 19/24 - 1
5-80088632-A-C c.2624A>C p.D875A Missense 19/24 - 1
5-80088634-C-A c.2626C>A p.Q876K Missense 19/24 - 1
5-80088634-C-G c.2626C>G p.Q876E Missense 19/24 - 3
5-80088637-T-C c.2629T>C p.Y877H Missense 19/24 - 1
5-80088637-T-G c.2629T>G p.Y877D Missense 19/24 - 1
5-80088641-GTC-G c.2633_2634del p.V878Afs*3 Frameshift 19/24 - 1
5-80088641-T-C c.2633T>C p.V878A Missense 19/24 - 1
5-80088642-C-T c.2634C>T p.V878= Synonymous 19/24 - 1
5-80088643-C-T c.2635C>T p.P879S Missense 19/24 - 1
5-80088644-C-A c.2636C>A p.P879Q Missense 19/24 - 1
5-80088644-C-T c.2636C>T p.P879L Missense 19/24 - 1
5-80088647-A-G c.2639A>G p.N880S Missense 19/24 - 1
5-80088649-TAATACAGATTTATCA-T c.2641_2655del p.N881_S885del SpliceDonorDeletion 19/24 - 1
5-80088654-A-C c.2646A>C p.T882= Synonymous 19/24 - 1
5-80088654-A-G c.2646A>G p.T882= Synonymous 19/24 - 1
5-80088654-A-T c.2646A>T p.T882= Synonymous 19/24 - 1
5-80088655-G-A c.2647G>A p.D883N Missense 19/24 - 1
5-80088656-A-G c.2648A>G p.D883G Missense 19/24 - 1
5-80088658-T-G c.2650T>G p.L884V Missense 19/24 - 1
5-80088662-C-T c.2654C>T p.S885L Missense 19/24 - 1
5-80088663-A-G c.2655A>G p.S885= Synonymous 19/24 - 1
5-80088664-G-A c.2655+1G>A - IntronicSNV - 19/23 1
5-80088901-A-G c.2655+238A>G - IntronicSNV - 19/23 1
5-80093800-C-G c.2655+5137C>G - IntronicSNV - 19/23 3
5-80093964-C-G c.2655+5301C>G - IntronicSNV - 19/23 1
5-80100052-A-G c.2656-9351A>G - IntronicSNV - 19/23 1
5-80101306-T-G c.2656-8097T>G - IntronicSNV - 19/23 1
5-80101773-T-A c.2656-7630T>A - IntronicSNV - 19/23 1
5-80101773-T-C c.2656-7630T>C - IntronicSNV - 19/23 1
5-80102444-G-A c.2656-6959G>A - IntronicSNV - 19/23 1
5-80109258-T-C c.2656-145T>C - IntronicSNV - 19/23 1
5-80109403-G-A c.2656G>A p.E886K Missense 20/24 - 3
5-80109406-G-A c.2659G>A p.D887N Missense 20/24 - 4
5-80109406-G-T c.2659G>T p.D887Y Missense 20/24 - 1
5-80109407-A-G c.2660A>G p.D887G Missense 20/24 - 1
5-80109407-A-T c.2660A>T p.D887V Missense 20/24 - 1
5-80109408-C-A c.2661C>A p.D887E Missense 20/24 - 1
5-80109408-C-G c.2661C>G p.D887E Missense 20/24 - 1
5-80109410-C-G c.2663C>G p.S888* Nonsense 20/24 - 2
5-80109410-CAGAG-C c.2668_2671del p.R890* Frameshift 20/24 - 1
5-80109415-A-G c.2668A>G p.R890G Missense 20/24 - 2
5-80109418-G-A c.2671G>A p.V891I Missense 20/24 - 5
5-80109418-G-C c.2671G>C p.V891L Missense 20/24 - 2
5-80109418-G-T c.2671G>T p.V891L Missense 20/24 - 3
5-80109419-T-A c.2672T>A p.V891E Missense 20/24 - 1
5-80109421-A-G c.2674A>G p.M892V Missense 20/24 - 1
5-80109423-G-A c.2676G>A p.M892I Missense 20/24 - 1
5-80109423-G-C c.2676G>C p.M892I Missense 20/24 - 1
5-80109423-G-T c.2676G>T p.M892I Missense 20/24 - 1
5-80109430-A-G c.2683A>G p.T895A Missense 20/24 - 1
5-80109432-C-T c.2685C>T p.T895= Synonymous 20/24 - 1
5-80109433-G-A c.2686G>A p.G896R Missense 20/24 - 12
5-80109433-G-C c.2686G>C p.G896R Missense 20/24 - 6
5-80109433-G-T c.2686G>T p.G896* Nonsense 20/24 - 8
5-80109434-G-T c.2687G>T p.G896V Missense 20/24 - 3
5-80109436-C-T c.2689C>T p.P897S Missense 20/24 - 1
5-80109437-C-G c.2690C>G p.P897R Missense 20/24 - 1
5-80109439-A-C c.2692A>C p.N898H Missense 20/24 - 1
5-80109442-A-G c.2695A>G p.M899V Missense 20/24 - 1
5-80109445-G-A c.2698G>A p.G900S Missense 20/24 - 2
5-80109445-G-T c.2698G>T p.G900C Missense 20/24 - 2
5-80109446-G-A c.2699G>A p.G900D Missense 20/24 - 3
5-80109447-T-A c.2700T>A p.G900= Synonymous 20/24 - 2
5-80109447-T-C c.2700T>C p.G900= Synonymous 20/24 - 2
5-80109447-T-G c.2700T>G p.G900= Synonymous 20/24 - 2
5-80109448-GG-AC c.2701_2702delinsAC p.G901T Missense 20/24 - 1
5-80109449-G-A c.2702G>A p.G901E Missense 20/24 - 2
5-80109449-G-C c.2702G>C p.G901A Missense 20/24 - 1
5-80109449-G-T c.2702G>T p.G901V Missense 20/24 - 1
5-80109451-AA-GC c.2704_2705delinsGC p.K902A Missense 20/24 - 1
5-80109451-A-C c.2704A>C p.K902Q Missense 20/24 - 3
5-80109453-G-C c.2706G>C p.K902N Missense 20/24 - 1
5-80109453-G-T c.2706G>T p.K902N Missense 20/24 - 1
5-80109454-A-G c.2707A>G p.S903G Missense 20/24 - 1
5-80109459-C-G c.2712C>G p.S904= Synonymous 20/24 - 1
5-80109463-A-G c.2716A>G p.I906V Missense 20/24 - 1
5-80109463-A-T c.2716A>T p.I906L Missense 20/24 - 1
5-80109465-A-C c.2718A>C p.I906= Synonymous 20/24 - 1
5-80109465-A-T c.2718A>T p.I906= Synonymous 20/24 - 1
5-80109466-A-G c.2719A>G p.K907E Missense 20/24 - 1
5-80109469-C-G c.2722C>G p.Q908E Missense 20/24 - 2
5-80109469-C-T c.2722C>T p.Q908* Nonsense 20/24 - 1
5-80109470-A-G c.2723A>G p.Q908R Missense 20/24 - 1
5-80109473-T-C c.2726T>C p.V909A Missense 20/24 - 1
5-80109475-G-A c.2728G>A p.A910T Missense 20/24 - 1
5-80109476-C-T c.2729C>T p.A910V Missense 20/24 - 1
5-80109478-T-G c.2731T>G p.L911V Missense 20/24 - 6
5-80109479-T-G c.2732T>G p.L911W Missense 20/24 - 24
5-80109480-G-C c.2733G>C p.L911F Missense 20/24 - 1
5-80109480-G-T c.2733G>T p.L911F Missense 20/24 - 1
5-80109481-A-G c.2734A>G p.I912V Missense 20/24 - 2
5-80109482-T-C c.2735T>C p.I912T Missense 20/24 - 1
5-80109483-T-A c.2736T>A p.I912= Synonymous 20/24 - 1
5-80109483-T-C c.2736T>C p.I912= Synonymous 20/24 - 1
5-80109484-A-G c.2737A>G p.T913A Missense 20/24 - 1
5-80109485-C-G c.2738C>G p.T913S Missense 20/24 - 1
5-80109487-A-G c.2740A>G p.I914V Missense 20/24 - 2
5-80109489-C-T c.2742C>T p.I914= Synonymous 20/24 - 1
5-80109490-A-C c.2743A>C p.M915L Missense 20/24 - 1
5-80109490-A-G c.2743A>G p.M915V Missense 20/24 - 1
5-80109493-G-A c.2746G>A p.A916T Missense 20/24 - 3
5-80109493-G-C c.2746G>C p.A916P Missense 20/24 - 1
5-80109493-G-T c.2746G>T p.A916S Missense 20/24 - 1
5-80109497-A-T c.2750A>T p.Q917L Missense 20/24 - 1
5-80109498-G-T c.2751G>T p.Q917H Missense 20/24 - 1
5-80109499-A-G c.2752A>G p.I918V Missense 20/24 - 1
5-80109500-T-C c.2753T>C p.I918T Missense 20/24 - 1
5-80109502-G-A c.2755G>A p.G919S Missense 20/24 - 1
5-80109503-G-A c.2756G>A p.G919D Missense 20/24 - 1
5-80109506-C-A c.2759C>A p.S920Y Missense 20/24 - 1
5-80109505-TC-T c.2760del p.Y921Mfs*36 Frameshift 20/24 - 12
5-80109513-T-A c.2766T>A p.V922= Synonymous 20/24 - 1
5-80109513-T-C c.2766T>C p.V922= Synonymous 20/24 - 1
5-80109513-T-G c.2766T>G p.V922= Synonymous 20/24 - 1
5-80109514-C-A c.2767C>A p.P923T Missense 20/24 - 1
5-80109514-C-T c.2767C>T p.P923S Missense 20/24 - 3
5-80109515-C-T c.2768C>T p.P923L Missense 20/24 - 4
5-80109518-C-A c.2771C>A p.A924E Missense 20/24 - 1
5-80109518-C-T c.2771C>T p.A924V Missense 20/24 - 2
5-80109519-A-C c.2772A>C p.A924= Synonymous 20/24 - 1
5-80109519-A-G c.2772A>G p.A924= Synonymous 20/24 - 1
5-80109519-A-T c.2772A>T p.A924= Synonymous 20/24 - 1
5-80109520-G-A c.2773G>A p.E925K Missense 20/24 - 1
5-80109521-A-G c.2774A>G p.E925G Missense 20/24 - 1
5-80109522-A-C c.2775A>C p.E925D Missense 20/24 - 1
5-80109523-G-A c.2776G>A p.E926K Missense 20/24 - 1
5-80109523-G-T c.2776G>T p.E926* Nonsense 20/24 - 1
5-80109525-A-G c.2778A>G p.E926= Synonymous 20/24 - 1
5-80109526-G-A c.2779G>A p.A927T Missense 20/24 - 1
5-80109527-C-T c.2780C>T p.A927V Missense 20/24 - 1
5-80109528-G-A c.2781G>A p.A927= Synonymous 20/24 - 1
5-80109528-G-C c.2781G>C p.A927= Synonymous 20/24 - 1
5-80109528-G-T c.2781G>T p.A927= Synonymous 20/24 - 1
5-80109530-AC-A c.2783del p.T928Kfs*29 Frameshift 20/24 - 1
5-80109532-A-G c.2785A>G p.I929V Missense 20/24 - 2
5-80109533-T-C c.2786T>C p.I929T Missense 20/24 - 1
5-80109535-G-T c.2788G>T p.G930W Missense 20/24 - 3
5-80109536-G-A c.2789G>A p.G930E Missense 20/24 - 3
5-80109538-A-G c.2791A>G p.I931V Missense 20/24 - 1
5-80109541-G-A c.2794G>A p.V932M Missense 20/24 - 2
5-80109543-G-A c.2796G>A p.V932= Synonymous 20/24 - 1
5-80109545-A-G c.2798A>G p.D933G Missense 20/24 - 1
5-80109547-G-A c.2800G>A p.G934S Missense 20/24 - 1
5-80109547-G-T c.2800G>T p.G934C Missense 20/24 - 2
5-80109548-G-A c.2801G>A p.G934D Missense 20/24 - 1
5-80109548-G-C c.2801G>C p.G934A Missense 20/24 - 1
5-80109548-GC-AG c.2801_2802delinsAG p.G934E Missense 20/24 - 1
5-80109549-C-A c.2802C>A p.G934= Synonymous 20/24 - 1
5-80109549-C-G c.2802C>G p.G934= Synonymous 20/24 - 1
5-80109549-C-T c.2802C>T p.G934= Synonymous 20/24 - 1
5-80109549-C-CAA c.2803_2804insAA p.I935Kfs*23 Frameshift 20/24 - 1
5-80109550-CA-C c.2803del p.I935Ffs*22 Frameshift 20/24 - 2
5-80109552-T-A c.2805T>A p.I935= Synonymous 20/24 - 1
5-80109550-AT-A c.2807del p.F936Sfs*21 Frameshift 20/24 - 1
5-80109554-T-C c.2807T>C p.F936S Missense 20/24 - 1
5-80109555-C-T c.2808C>T p.F936= Synonymous 20/24 - 1
5-80109557-C-T c.2810C>T p.T937I Missense 20/24 - 2
5-80109558-A-T c.2811A>T p.T937= Synonymous 20/24 - 1
5-80109568-C-T c.2813+8C>T - IntronicSNV - 20/23 1
5-80109795-C-G c.2813+235C>G - IntronicSNV - 20/23 1
5-80111739-T-C c.2813+2179T>C - IntronicSNV - 20/23 1
5-80116090-G-A c.2813+6530G>A - IntronicSNV - 20/23 1
5-80118572-G-A c.2813+9012G>A - IntronicSNV - 20/23 1
5-80118881-T-A c.2813+9321T>A - IntronicSNV - 20/23 2
5-80118976-A-G c.2813+9416A>G - IntronicSNV - 20/23 1
5-80120361-T-C c.2813+10801T>C - IntronicSNV - 20/23 1
5-80120530-C-G c.2813+10970C>G - IntronicSNV - 20/23 1
5-80121653-A-AT c.2813+12100dup - IntronicInsertion - 20/23 1
5-80124801-G-A c.2813+15241G>A - IntronicSNV - 20/23 1
5-80126153-A-G c.2813+16593A>G - IntronicSNV - 20/23 1
5-80126593-C-T c.2813+17033C>T - IntronicSNV - 20/23 2
5-80127085-A-C c.2813+17525A>C - IntronicSNV - 20/23 1
5-80129952-A-G c.2814-19997A>G - IntronicSNV - 20/23 1
5-80132033-A-G c.2814-17916A>G - IntronicSNV - 20/23 1
5-80142517-C-T c.2814-7432C>T - IntronicSNV - 20/23 1
5-80144041-C-T c.2814-5908C>T - IntronicSNV - 20/23 1
5-80148234-C-T c.2814-1715C>T - IntronicSNV - 20/23 5
5-80149702-C-A c.2814-247C>A - IntronicSNV - 20/23 2
5-80149702-C-G c.2814-247C>G - IntronicSNV - 20/23 2
5-80149702-C-T c.2814-247C>T - IntronicSNV - 20/23 2
5-80149949-G-C c.2814G>C p.R938S Missense 21/24 - 3
5-80149949-G-T c.2814G>T p.R938S Missense 21/24 - 5
5-80149950-A-C c.2815A>C p.M939L Missense 21/24 - 2
5-80149950-A-G c.2815A>G p.M939V Missense 21/24 - 1
5-80149950-A-T c.2815A>T p.M939L Missense 21/24 - 1
5-80149951-T-C c.2816T>C p.M939T Missense 21/24 - 1
5-80149951-T-G c.2816T>G p.M939R Missense 21/24 - 1
5-80149953-G-T c.2818G>T p.G940C Missense 21/24 - 1
5-80149954-G-A c.2819G>A p.G940D Missense 21/24 - 2
5-80149954-G-C c.2819G>C p.G940A Missense 21/24 - 1
5-80149957-C-T c.2822C>T p.A941V Missense 21/24 - 1
5-80149959-G-A c.2824G>A p.A942T Missense 21/24 - 1
5-80149962-G-A c.2827G>A p.D943N Missense 21/24 - 2
5-80149963-A-G c.2828A>G p.D943G Missense 21/24 - 1
5-80149964-C-T c.2829C>T p.D943= Synonymous 21/24 - 2
5-80149969-T-C c.2834T>C p.I945T Missense 21/24 - 1
5-80149970-A-G c.2835A>G p.I945M Missense 21/24 - 1
5-80149971-T-C c.2836T>C p.Y946H Missense 21/24 - 1
5-80149972-A-C c.2837A>C p.Y946S Missense 21/24 - 2
5-80149972-A-G c.2837A>G p.Y946C Missense 21/24 - 1
5-80149977-G-A c.2842G>A p.G948R Missense 21/24 - 1
5-80149977-G-C c.2842G>C p.G948R Missense 21/24 - 1
5-80149977-G-T c.2842G>T p.G948* Nonsense 21/24 - 1
5-80149978-G-C c.2843G>C p.G948A Missense 21/24 - 1
5-80149980-C-T c.2845C>T p.Q949* Nonsense 21/24 - 4
5-80149981-A-G c.2846A>G p.Q949R Missense 21/24 - 73
5-80149981-A-T c.2846A>T p.Q949L Missense 21/24 - 24
5-80149982-G-A c.2847G>A p.Q949= Synonymous 21/24 - 1
5-80149983-A-G c.2848A>G p.S950G Missense 21/24 - 1
5-80149986-A-T c.2851A>T p.T951S Missense 21/24 - 1
5-80149992-A-C c.2857A>C p.M953L Missense 21/24 - 2
5-80149992-A-G c.2857A>G p.M953V Missense 21/24 - 1
5-80149992-A-T c.2857A>T p.M953L Missense 21/24 - 2
5-80149995-G-A c.2860G>A p.E954K Missense 21/24 - 4
5-80150000-A-C c.2865A>C p.E955D Missense 21/24 - 1
5-80150000-A-T c.2865A>T p.E955D Missense 21/24 - 1
5-80150001-C-T c.2866C>T p.L956= Synonymous 21/24 - 1
5-80150003-G-A c.2868G>A p.L956= Synonymous 21/24 - 1
5-80150003-G-C c.2868G>C p.L956= Synonymous 21/24 - 1
5-80150003-G-T c.2868G>T p.L956= Synonymous 21/24 - 1
5-80150005-C-T c.2870C>T p.T957I Missense 21/24 - 1
5-80150007-G-A c.2872G>A p.D958N Missense 21/24 - 1
5-80150009-C-A c.2874C>A p.D958E Missense 21/24 - 1
5-80150009-C-G c.2874C>G p.D958E Missense 21/24 - 1
5-80150010-ACA-TGT c.2875_2877inv p.T959C Missense 21/24 - 1
5-80150010-A-G c.2875A>G p.T959A Missense 21/24 - 1
5-80150011-C-G c.2876C>G p.T959R Missense 21/24 - 1
5-80150011-C-T c.2876C>T p.T959I Missense 21/24 - 2
5-80150013-G-A c.2878G>A p.A960T Missense 21/24 - 1
5-80150016-G-C c.2881G>C p.E961Q Missense 21/24 - 1
5-80150018-A-G c.2883A>G p.E961= Synonymous 21/24 - 1
5-80150021-A-G c.2886A>G p.I962M Missense 21/24 - 2
5-80150024-C-G c.2889C>G p.I963M Missense 21/24 - 2
5-80150025-A-T c.2890A>T p.R964* Nonsense 21/24 - 1
5-80150026-G-A c.2891G>A p.R964K Missense 21/24 - 1
5-80150026-G-C c.2891G>C p.R964T Missense 21/24 - 1
5-80150030-A-C c.2895A>C p.K965N Missense 21/24 - 1
5-80150030-A-T c.2895A>T p.K965N Missense 21/24 - 1
5-80150031-G-A c.2896G>A p.A966T Missense 21/24 - 1
5-80150034-A-G c.2899A>G p.T967A Missense 21/24 - 1
5-80150035-C-T c.2900C>T p.T967I Missense 21/24 - 1
5-80150037-T-C c.2902T>C p.S968P Missense 21/24 - 1
5-80150038-C-G c.2903C>G p.S968* Nonsense 21/24 - 1
5-80150042-G-C c.2907G>C p.Q969H Missense 21/24 - 2
5-80150042-G-T c.2907G>T p.Q969H Missense 21/24 - 1
5-80150043-T-G c.2908T>G p.S970A Missense 21/24 - 1
5-80150044-C-T c.2909C>T p.S970F Missense 21/24 - 2
5-80150047-T-C c.2912T>C p.L971S Missense 21/24 - 1
5-80150048-G-C c.2913G>C p.L971F Missense 21/24 - 2
5-80150048-G-T c.2913G>T p.L971F Missense 21/24 - 1
5-80150049-G-C c.2914G>C p.V972L Missense 21/24 - 1
5-80150052-A-G c.2917A>G p.I973V Missense 21/24 - 1
5-80150053-T-C c.2918T>C p.I973T Missense 21/24 - 2
5-80150054-C-T c.2919C>T p.I973= Synonymous 21/24 - 1
5-80150058-G-A c.2923G>A p.D975N Missense 21/24 - 1
5-80150058-G-T c.2923G>T p.D975Y Missense 21/24 - 4
5-80150060-T-C c.2925T>C p.D975= Synonymous 21/24 - 1
5-80150062-A-C c.2927A>C p.E976A Missense 21/24 - 1
5-80150066-A-G c.2931A>G p.L977= Synonymous 21/24 - 1
5-80150067-G-A c.2932G>A p.G978R Missense 21/24 - 1
5-80150067-G-C c.2932G>C p.G978R Missense 21/24 - 1
5-80150073-G-A c.2938G>A p.G980R Missense 21/24 - 1
5-80150074-G-C c.2939G>C p.G980A Missense 21/24 - 1
5-80150076-A-G c.2941A>G p.T981A Missense 21/24 - 1
5-80150077-C-T c.2942C>T p.T981M Missense 21/24 - 2
5-80150079-A-T c.2944A>T p.S982C Missense 21/24 - 1
5-80150081-C-T c.2946C>T p.S982= Synonymous 21/24 - 1
5-80150086-A-G c.2951A>G p.H984R Missense 21/24 - 1
5-80150088-G-T c.2953G>T p.D985Y Missense 21/24 - 1
5-80150089-A-G c.2954A>G p.D985G Missense 21/24 - 1
5-80150093-A-C c.2958A>C p.G986= Synonymous 21/24 - 1
5-80150093-A-G c.2958A>G p.G986= Synonymous 21/24 - 1
5-80150093-A-T c.2958A>T p.G986= Synonymous 21/24 - 1
5-80150097-G-A c.2962G>A p.A988T Missense 21/24 - 1
5-80150098-C-G c.2963C>G p.A988G Missense 21/24 - 1
5-80150098-C-T c.2963C>T p.A988V Missense 21/24 - 2
5-80150099-C-A c.2964C>A p.A988= Synonymous 21/24 - 1
5-80150099-C-G c.2964C>G p.A988= Synonymous 21/24 - 1
5-80150099-C-T c.2964C>T p.A988= Synonymous 21/24 - 2
5-80150103-G-A c.2968G>A p.A990T Missense 21/24 - 2
5-80150104-C-T c.2969C>T p.A990V Missense 21/24 - 4
5-80150106-T-C c.2971T>C p.Y991H Missense 21/24 - 4
5-80150107-A-G c.2972A>G p.Y991C Missense 21/24 - 2
5-80150109-G-A c.2974G>A p.A992T Missense 21/24 - 1
5-80150110-C-G c.2975C>G p.A992G Missense 21/24 - 2
5-80150112-A-G c.2977A>G p.T993A Missense 21/24 - 1
5-80150113-C-T c.2978C>T p.T993I Missense 21/24 - 1
5-80150115-C-G c.2980C>G p.L994V Missense 21/24 - 1
5-80150116-T-A c.2981T>A p.L994H Missense 21/24 - 1
5-80150118-G-C c.2983G>C p.E995Q Missense 21/24 - 3
5-80150122-A-G c.2987A>G p.Y996C Missense 21/24 - 2
5-80150126-C-T c.2991C>T p.F997= Synonymous 21/24 - 1
5-80150127-A-G c.2992A>G p.I998V Missense 21/24 - 2
5-80150133-G-A c.2998G>A p.D1000N Missense 21/24 - 2
5-80150135-T-A c.3000T>A p.D1000E Missense 21/24 - 1
5-80150135-T-G c.3000T>G p.D1000E Missense 21/24 - 1
5-80150586-CT-C c.3000+458del - IntronicDeletion - 21/23 1
5-80150881-C-T c.3000+746C>T - IntronicSNV - 21/23 2
5-80153476-G-A c.3000+3341G>A - IntronicSNV - 21/23 3
5-80156059-A-G c.3001-4573A>G - IntronicSNV - 21/23 3
5-80157514-C-T c.3001-3118C>T - IntronicSNV - 21/23 1
5-80160393-A-G c.3001-239A>G - IntronicSNV - 21/23 1
5-80160393-A-T c.3001-239A>T - IntronicSNV - 21/23 1
5-80160600-G-A c.3001-32G>A - IntronicSNV - 21/23 1
5-80160600-G-T c.3001-32G>T - IntronicSNV - 21/23 1
5-80160610-T-A c.3001-22T>A - IntronicSNV - 21/23 1
5-80160632-G-C c.3001G>C p.V1001L Missense 22/24 - 1
5-80160632-G-T c.3001G>T p.V1001L Missense 22/24 - 1
5-80160633-T-C c.3002T>C p.V1001A Missense 22/24 - 1
5-80160639-C-T c.3008C>T p.S1003F Missense 22/24 - 5
5-80160643-A-C c.3012A>C p.L1004F Missense 22/24 - 1
5-80160645-CC-TG c.3014_3015delinsTG p.T1005M Missense 22/24 - 1
5-80160645-C-T c.3014C>T p.T1005I Missense 22/24 - 1
5-80160647-CCT-C c.3016_3017del p.L1006Vfs*10 Frameshift 22/24 - 1
5-80160658-C-A c.3027C>A p.T1009= Synonymous 22/24 - 1
5-80160658-C-G c.3027C>G p.T1009= Synonymous 22/24 - 1
5-80160658-C-T c.3027C>T p.T1009= Synonymous 22/24 - 1
5-80160663-A-G c.3032A>G p.Y1011C Missense 22/24 - 1
5-80160663-A-T c.3032A>T p.Y1011F Missense 22/24 - 1
5-80160665-C-T c.3034C>T p.P1012S Missense 22/24 - 2
5-80160666-C-A c.3035C>A p.P1012Q Missense 22/24 - 1
5-80160666-C-T c.3035C>T p.P1012L Missense 22/24 - 1
5-80160667-G-A c.3036G>A p.P1012= Synonymous 22/24 - 1
5-80160667-G-C c.3036G>C p.P1012= Synonymous 22/24 - 1
5-80160667-G-T c.3036G>T p.P1012= Synonymous 22/24 - 1
5-80160668-C-T c.3037C>T p.P1013S Missense 22/24 - 1
5-80160675-G-A c.3044G>A p.C1015Y Missense 22/24 - 1
5-80160677-G-A c.3046G>A p.E1016K Missense 22/24 - 1
5-80160677-G-T c.3046G>T p.E1016* Nonsense 22/24 - 1
5-80160683-G-C c.3052G>C p.E1018Q Missense 22/24 - 2
5-80160683-G-T c.3052G>T p.E1018* Nonsense 22/24 - 1
5-80160686-A-G c.3055A>G p.K1019E Missense 22/24 - 1
5-80160683-GA-G c.3059del p.N1020Ifs*40 Frameshift 22/24 - 2
5-80160693-A-G c.3062A>G p.Y1021C Missense 22/24 - 1
5-80160698-C-T c.3067C>T p.H1023Y Missense 22/24 - 1
5-80160700-C-T c.3069C>T p.H1023= Synonymous 22/24 - 1
5-80160701-C-A c.3070C>A p.Q1024K Missense 22/24 - 1
5-80160701-C-T c.3070C>T p.Q1024* Nonsense 22/24 - 1
5-80160703-G-C c.3072G>C p.Q1024H Missense 22/24 - 3
5-80160703-G-T c.3072G>T p.Q1024H Missense 22/24 - 2
5-80160704-G-A c.3073G>A p.V1025M Missense 22/24 - 4
5-80160704-G-T c.3073G>T p.V1025L Missense 22/24 - 1
5-80160707-G-A c.3076G>A p.G1026R Missense 22/24 - 1
5-80160707-G-C c.3076G>C p.G1026R Missense 22/24 - 1
5-80160708-G-A c.3077G>A p.G1026E Missense 22/24 - 1
5-80160710-A-G c.3079A>G p.N1027D Missense 22/24 - 1
5-80160716-C-A c.3085C>A p.H1029N Missense 22/24 - 1
5-80160716-C-T c.3085C>T p.H1029Y Missense 22/24 - 1
5-80160718-C-A c.3087C>A p.H1029Q Missense 22/24 - 1
5-80160721-G-A c.3090G>A p.M1030I Missense 22/24 - 1
5-80160721-G-C c.3090G>C p.M1030I Missense 22/24 - 1
5-80160721-G-T c.3090G>T p.M1030I Missense 22/24 - 1
5-80160722-G-C c.3091G>C p.G1031R Missense 22/24 - 1
5-80160722-GGA-TGT c.3091_3093delinsTGT p.G1031C Missense 22/24 - 1
5-80160724-A-G c.3093A>G p.G1031= Synonymous 22/24 - 1
5-80160725-T-C c.3094T>C p.F1032L Missense 22/24 - 1
5-80160727-C-G c.3096C>G p.F1032L Missense 22/24 - 1
5-80160727-C-A c.3096C>A p.F1032L Missense 22/24 - 2
5-80160730-G-C c.3099G>C p.L1033F Missense 22/24 - 1
5-80160731-G-A c.3100G>A p.V1034I Missense 22/24 - 1
5-80160735-G-A c.3104G>A p.S1035N Missense 22/24 - 1
5-80160737-G-A c.3106G>A p.E1036K Missense 22/24 - 4
5-80160739-G-C c.3108G>C p.E1036D Missense 22/24 - 1
5-80160739-G-T c.3108G>T p.E1036D Missense 22/24 - 1
5-80160740-G-A c.3109G>A p.D1037N Missense 22/24 - 2
5-80160747-G-A c.3116G>A p.S1039N Missense 22/24 - 1
5-80160761-G-A c.3130G>A p.G1044S Missense 22/24 - 1
5-80160763-T-C c.3130+2T>C - IntronicSNV - 22/23 1
5-80160975-C-G c.3130+214C>G - IntronicSNV - 22/23 2
5-80160975-C-T c.3130+214C>T - IntronicSNV - 22/23 1
5-80161500-G-A c.3130+739G>A - IntronicSNV - 22/23 2
5-80161500-G-T c.3130+739G>T - IntronicSNV - 22/23 2
5-80163406-C-T c.3130+2645C>T - IntronicSNV - 22/23 1
5-80164943-A-G c.3131-3992A>G - IntronicSNV - 22/23 1
5-80165378-A-T c.3131-3557A>T - IntronicSNV - 22/23 1
5-80165414-C-G c.3131-3521C>G - IntronicSNV - 22/23 1
5-80168934-G-A c.3131-1G>A - IntronicSNV - 22/23 1
5-80168935-G-A c.3131G>A p.G1044D Missense 23/24 - 1
5-80168935-GGCGCAGCAGAACAAGTCCCTGATTTTGTCACCTTC-G c.3131_3165del p.G1044Afs*6 SpliceAcceptorDeletion 23/24 - 1
5-80168937-G-A c.3133G>A p.A1045T Missense 23/24 - 108
5-80168938-C-G c.3134C>G p.A1045G Missense 23/24 - 1
5-80168938-C-T c.3134C>T p.A1045V Missense 23/24 - 1
5-80168939-A-C c.3135A>C p.A1045= Synonymous 23/24 - 3
5-80168939-A-G c.3135A>G p.A1045= Synonymous 23/24 - 3
5-80168939-A-T c.3135A>T p.A1045= Synonymous 23/24 - 4
5-80168940-G-A c.3136G>A p.A1046T Missense 23/24 - 1
5-80168941-C-A c.3137C>A p.A1046E Missense 23/24 - 3
5-80168944-A-T c.3140A>T p.E1047V Missense 23/24 - 1
5-80168946-C-A c.3142C>A p.Q1048K Missense 23/24 - 1
5-80168946-C-T c.3142C>T p.Q1048* Nonsense 23/24 - 1
5-80168947-A-G c.3143A>G p.Q1048R Missense 23/24 - 1
5-80168949-G-T c.3145G>T p.V1049F Missense 23/24 - 1
5-80168952-C-A c.3148C>A p.P1050T Missense 23/24 - 1
5-80168953-C-T c.3149C>T p.P1050L Missense 23/24 - 1
5-80168954-T-C c.3150T>C p.P1050= Synonymous 23/24 - 1
5-80168955-G-A c.3151G>A p.D1051N Missense 23/24 - 1
5-80168959-T-C c.3155T>C p.F1052S Missense 23/24 - 1
5-80168964-A-G c.3160A>G p.T1054A Missense 23/24 - 2
5-80168970-C-T c.3166C>T p.L1056F Missense 23/24 - 1
5-80168976-C-A c.3172C>A p.Q1058K Missense 23/24 - 1
5-80168976-C-T c.3172C>T p.Q1058* Nonsense 23/24 - 1
5-80168980-TA-AC c.3176_3177delinsAC p.I1059N Missense 23/24 - 1
5-80168983-C-T c.3179C>T p.T1060I Missense 23/24 - 3
5-80168985-A-G c.3181A>G p.R1061G Missense 23/24 - 8
5-80168986-G-A c.3182G>A p.R1061K Missense 23/24 - 3
5-80168986-G-T c.3182G>T p.R1061I Missense 23/24 - 4
5-80168988-G-A c.3184G>A p.G1062R Missense 23/24 - 3
5-80168988-G-C c.3184G>C p.G1062R Missense 23/24 - 2
5-80168992-T-C c.3188T>C p.I1063T Missense 23/24 - 1
5-80168993-T-G c.3189T>G p.I1063M Missense 23/24 - 1
5-80168994-G-A c.3190G>A p.A1064T Missense 23/24 - 2
5-80168995-C-T c.3191C>T p.A1064V Missense 23/24 - 1
5-80168997-G-A c.3193G>A p.A1065T Missense 23/24 - 1
5-80168997-G-T c.3193G>T p.A1065S Missense 23/24 - 1
5-80168998-C-T c.3194C>T p.A1065V Missense 23/24 - 3
5-80168999-A-C c.3195A>C p.A1065= Synonymous 23/24 - 1
5-80168999-A-G c.3195A>G p.A1065= Synonymous 23/24 - 1
5-80168999-A-T c.3195A>T p.A1065= Synonymous 23/24 - 1
5-80169000-A-G c.3196A>G p.R1066G Missense 23/24 - 1
5-80169001-G-A c.3197G>A p.R1066K Missense 23/24 - 5
5-80169004-G-A c.3200G>A p.S1067N Missense 23/24 - 2
5-80169005-T-C c.3201T>C p.S1067= Synonymous 23/24 - 2
5-80169007-A-G c.3203A>G p.Y1068C Missense 23/24 - 1
5-80169010-G-C c.3206G>C p.G1069A Missense 23/24 - 1
5-80169014-A-C c.3210A>C p.L1070F Missense 23/24 - 2
5-80169014-A-T c.3210A>T p.L1070F Missense 23/24 - 2
5-80169016-A-T c.3212A>T p.N1071I Missense 23/24 - 1
5-80169018-G-A c.3214G>A p.V1072M Missense 23/24 - 1
5-80169022-C-T c.3218C>T p.A1073V Missense 23/24 - 2
5-80169024-A-G c.3220A>G p.K1074E Missense 23/24 - 1
5-80169024-A-T c.3220A>T p.K1074* Nonsense 23/24 - 1
5-80169028-T-C c.3224T>C p.L1075P Missense 23/24 - 1
5-80169033-G-A c.3229G>A p.D1077N Missense 23/24 - 1
5-80169034-A-T c.3230A>T p.D1077V Missense 23/24 - 2
5-80169036-G-A c.3232G>A p.V1078I Missense 23/24 - 1
5-80169040-C-G c.3236C>G p.P1079R Missense 23/24 - 1
5-80169042-G-C c.3238G>C p.G1080R Missense 23/24 - 1
5-80169045-G-A c.3241G>A p.E1081K Missense 23/24 - 1
5-80169049-T-C c.3245T>C p.I1082T Missense 23/24 - 1
5-80169049-T-G c.3245T>G p.I1082S Missense 23/24 - 1
5-80169050-T-G c.3246T>G p.I1082M Missense 23/24 - 2
5-80169057-A-G c.3253A>G p.K1085E Missense 23/24 - 1
5-80169063-G-A c.3259G>A p.A1087T Missense 23/24 - 1
5-80169063-G-C c.3259G>C p.A1087P Missense 23/24 - 2
5-80169066-C-G c.3262C>G p.H1088D Missense 23/24 - 1
5-80169069-A-T c.3265A>T p.K1089* Nonsense 23/24 - 1
5-80169071-G-C c.3267G>C p.K1089N Missense 23/24 - 1
5-80169071-G-T c.3267G>T p.K1089N Missense 23/24 - 1
5-80169073-C-T c.3269C>T p.S1090L Missense 23/24 - 2
5-80169084-G-A c.3280G>A p.E1094K Missense 23/24 - 1
5-80169087-G-A c.3283G>A p.G1095R Missense 23/24 - 2
5-80169093-A-G c.3289A>G p.I1097V Missense 23/24 - 1
5-80169100-C-T c.3296C>T p.T1099M Missense 23/24 - 1
5-80171134-A-C c.3303-436A>C - IntronicSNV - 23/23 7
5-80171134-A-G c.3303-436A>G - IntronicSNV - 23/23 7
5-80171134-A-T c.3303-436A>T - IntronicSNV - 23/23 7
5-80171135-A-G c.3303-435A>G - IntronicSNV - 23/23 1
5-80171569-G-A c.3303-1G>A - IntronicSNV - 23/23 2
5-80171571-A-G c.3304A>G p.K1102E Missense 24/24 - 1
5-80171575-G-A c.3308G>A p.R1103K Missense 24/24 - 1
5-80171575-G-C c.3308G>C p.R1103T Missense 24/24 - 1
5-80171579-C-A c.3312C>A p.L1104= Synonymous 24/24 - 1
5-80171579-C-G c.3312C>G p.L1104= Synonymous 24/24 - 2
5-80171579-C-T c.3312C>T p.L1104= Synonymous 24/24 - 1
5-80171582-G-A c.3315G>A p.K1105= Synonymous 24/24 - 1
5-80171589-G-T c.3322G>T p.A1108S Missense 24/24 - 1
5-80171590-C-T c.3323C>T p.A1108V Missense 24/24 - 1
5-80171598-T-A c.3331T>A p.W1111R Missense 24/24 - 1
5-80171598-T-C c.3331T>C p.W1111R Missense 24/24 - 1
5-80171599-G-A c.3332G>A p.W1111* Nonsense 24/24 - 2
5-80171600-G-A c.3333G>A p.W1111* Nonsense 24/24 - 2
5-80171601-A-G c.3334A>G p.T1112A Missense 24/24 - 1
5-80171601-A-T c.3334A>T p.T1112S Missense 24/24 - 1
5-80171602-C-G c.3335C>G p.T1112R Missense 24/24 - 1
5-80171602-C-T c.3335C>T p.T1112M Missense 24/24 - 11
5-80171603-G-A c.3336G>A p.T1112= Synonymous 24/24 - 1
5-80171603-G-T c.3336G>T p.T1112= Synonymous 24/24 - 2
5-80171605-T-C c.3338T>C p.M1113T Missense 24/24 - 2
5-80171605-T-G c.3338T>G p.M1113R Missense 24/24 - 1
5-80171606-G-A c.3339G>A p.M1113I Missense 24/24 - 7
5-80171606-G-C c.3339G>C p.M1113I Missense 24/24 - 1
5-80171606-G-T c.3339G>T p.M1113I Missense 24/24 - 1
5-80171608-A-G c.3341A>G p.H1114R Missense 24/24 - 2
5-80171613-G-T c.3346G>T p.A1116S Missense 24/24 - 3
5-80171614-C-T c.3347C>T p.A1116V Missense 24/24 - 1
5-80171617-A-G c.3350A>G p.Q1117R Missense 24/24 - 2
5-80171619-G-A c.3352G>A p.D1118N Missense 24/24 - 1
5-80171619-G-T c.3352G>T p.D1118Y Missense 24/24 - 1
5-80171620-A-G c.3353A>G p.D1118G Missense 24/24 - 1
5-80171622-C-T c.3355C>T p.L1119= Synonymous 24/24 - 3
5-80171623-T-C c.3356T>C p.L1119P Missense 24/24 - 1
5-80171626-A-T c.3359A>T p.Q1120L Missense 24/24 - 1
5-80171631-T-C c.3364T>C p.W1122R Missense 24/24 - 1
5-80171632-G-A c.3365G>A p.W1122* Nonsense 24/24 - 2
5-80171633-G-A c.3366G>A p.W1122* Nonsense 24/24 - 3
5-80171635-C-G c.3368C>G p.T1123R Missense 24/24 - 1
5-80171635-C-T c.3368C>T p.T1123I Missense 24/24 - 1
5-80171640-G-A c.3373G>A p.E1125K Missense 24/24 - 2
5-80171645-C-T c.3378C>T p.F1126= Synonymous 24/24 - 1
5-80171649-A-G c.3382A>G p.M1128V Missense 24/24 - 1
5-80171651-G-A c.3384G>A p.M1128I Missense 24/24 - 1
5-80171651-G-T c.3384G>T p.M1128I Missense 24/24 - 1
5-80171652-G-C c.3385G>C p.E1129Q Missense 24/24 - 1
5-80171652-G-T c.3385G>T p.E1129* Nonsense 24/24 - 1
5-80171655-G-A c.3388G>A p.E1130K Missense 24/24 - 1
5-80171655-G-T c.3388G>T p.E1130* Nonsense 24/24 - 1
5-80171658-A-G c.3391A>G p.T1131A Missense 24/24 - 2
5-80171661-C-T c.3394C>T p.Q1132* Nonsense 24/24 - 1
5-80171665-C-T c.3398C>T p.T1133I Missense 24/24 - 6
5-80171671-T-G c.3404T>G p.L1135R Missense 24/24 - 2
5-80171672-T-A c.3405T>A p.L1135= Synonymous 24/24 - 1
5-80171672-T-C c.3405T>C p.L1135= Synonymous 24/24 - 1
5-80171672-T-G c.3405T>G p.L1135= Synonymous 24/24 - 1
5-80171673-C-T c.3406C>T p.L1136F Missense 24/24 - 3
5-80171674-T-A c.3407T>A p.L1136H Missense 24/24 - 1
5-80171676-C-A c.3409C>A p.H1137N Missense 24/24 - 1
5-80172317-G-A c.*636G>A - 3-UTRSNV 24/24 - 1
5-80172448-A-C c.*767A>C - 3-UTRSNV 24/24 - 1