TET2 tet methylcytosine dioxygenase 2

Annotation transcript: NM_001127208.3

2527 unique variant annotations were identified in 948 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
4-106069013-G-T c.-193+877G>T - intron_variant - 1/10 5
4-106071064-A-G c.-193+2928A>G - intron_variant - 1/10 9
4-106071597-T-A c.-193+3461T>A - intron_variant - 1/10 1
4-106071597-T-C c.-193+3461T>C - intron_variant - 1/10 1
4-106075498-T-G c.-193+7362T>G - intron_variant - 1/10 5
4-106078097-A-G c.-193+9961A>G - intron_variant - 1/10 1
4-106081636-T-C c.-193+13500T>C - intron_variant - 1/10 12
4-106084643-G-A c.-193+16507G>A - intron_variant - 1/10 2
4-106084643-G-T c.-193+16507G>T - intron_variant - 1/10 2
4-106084778-C-T c.-193+16642C>T - intron_variant - 1/10 29
4-106106353-C-A c.-192-5164C>A - intron_variant - 1/10 4
4-106106353-C-G c.-192-5164C>G - intron_variant - 1/10 4
4-106106353-C-T c.-192-5164C>T - intron_variant - 1/10 4
4-106108902-T-C c.-192-2615T>C - intron_variant - 1/10 2
4-106114071-A-G c.-47+2409A>G - intron_variant - 2/10 6
4-106114071-A-T c.-47+2409A>T - intron_variant - 2/10 6
4-106115450-G-T c.-47+3788G>T - intron_variant - 2/10 1
4-106118756-T-C c.-47+7094T>C - intron_variant - 2/10 2
4-106125385-A-T c.-47+13723A>T - intron_variant - 2/10 1
4-106128760-G-A c.-47+17098G>A - intron_variant - 2/10 8
4-106128954-C-T c.-47+17292C>T - intron_variant - 2/10 2
4-106131210-C-T c.-47+19548C>T - intron_variant - 2/10 2
4-106133184-C-T c.-47+21522C>T - intron_variant - 2/10 1
4-106134316-G-A c.-46-20738G>A - IntronicSNV - 2/10 1
4-106134316-G-T c.-46-20738G>T - IntronicSNV - 2/10 1
4-106135316-G-A c.-46-19738G>A - IntronicSNV - 2/10 1
4-106135316-G-T c.-46-19738G>T - IntronicSNV - 2/10 1
4-106137033-G-A c.-46-18021G>A - IntronicSNV - 2/10 8
4-106139387-T-C c.-46-15667T>C - IntronicSNV - 2/10 5
4-106140501-G-T c.-46-14553G>T - IntronicSNV - 2/10 3
4-106142960-C-T c.-46-12094C>T - IntronicSNV - 2/10 1
4-106143492-C-T c.-46-11562C>T - IntronicSNV - 2/10 1
4-106143797-G-A c.-46-11257G>A - IntronicSNV - 2/10 1
4-106144735-A-C c.-46-10319A>C - IntronicSNV - 2/10 6
4-106148222-A-G c.-46-6832A>G - IntronicSNV - 2/10 1
4-106150555-C-T c.-46-4499C>T - IntronicSNV - 2/10 1
4-106151642-G-A c.-46-3412G>A - IntronicSNV - 2/10 1
4-106151843-T-C c.-46-3211T>C - IntronicSNV - 2/10 3
4-106068129-A-C c.-200A>C - IntronicSNV 1/11 - 1
4-106155044-T-A c.-46-10T>A - IntronicSNV - 2/10 1
4-106155044-T-G c.-46-10T>G - IntronicSNV - 2/10 1
4-106155101-TG-T c.4del p.E2Nfs*13 Frameshift 3/11 - 1
4-106155104-A-T c.5A>T p.E2V Missense 3/11 - 1
4-106155130-GGC-TGG c.31_33delinsTGG p.G11W Missense 3/11 - 1
4-106155135-C-T c.36C>T p.N12= Synonymous 3/11 - 1
4-106155136-A-C c.37A>C p.R13= Synonymous 3/11 - 1
4-106155137-G-A c.38G>A p.R13K Missense 3/11 - 2
4-106155142-A-T c.43A>T p.S15C Missense 3/11 - 5
4-106155142-AG-GC c.43_44delinsGC p.S15A Missense 3/11 - 4
4-106155142-AG-GA c.43_44delinsGA p.S15D Missense 3/11 - 1
4-106155145-C-G c.46C>G p.P16A Missense 3/11 - 1
4-106155145-CCA-AAC c.46_48delinsAAC p.P16N Missense 3/11 - 1
4-106155145-CCA-ATG c.46_48delinsATG p.P16M Missense 3/11 - 1
4-106155145-CC-AT c.46_47delinsAT p.P16I Missense 3/11 - 1
4-106155146-CA-AT c.47_48delinsAT p.P16H Missense 3/11 - 1
4-106155147-A-T c.48A>T p.P16= Synonymous 3/11 - 1
4-106155158-C-CT c.59_60insT p.S21Ifs*22 Frameshift 3/11 - 1
4-106155160-T-C c.61T>C p.S21P Missense 3/11 - 1
4-106155161-CA-GT c.62_63delinsGT p.S21C Missense 3/11 - 1
4-106155166-C-T c.67C>T p.P23S Missense 3/11 - 1
4-106155172-TG-GC c.73_74delinsGC p.C25A Missense 3/11 - 1
4-106155172-T-C c.73T>C p.C25R Missense 3/11 - 1
4-106155172-TGC-GAG c.73_75delinsGAG p.C25E Missense 3/11 - 1
4-106155175-C-A c.76C>A p.Q26K Missense 3/11 - 1
4-106155175-C-T c.76C>T p.Q26* Nonsense 3/11 - 1
4-106155182-A-G c.83A>G p.E28G Missense 3/11 - 1
4-106155185-C-G c.86C>G p.P29R Missense 3/11 - 24
4-106155185-C-T c.86C>T p.P29L Missense 3/11 - 4
4-106155187-CTG-TTT c.88_90delinsTTT p.L30F Missense 3/11 - 1
4-106155188-T-C c.89T>C p.L30P Missense 3/11 - 1
4-106155188-TG-AT c.89_90delinsAT p.L30H Missense 3/11 - 1
4-106155192-T-A c.93T>A p.A31= Synonymous 3/11 - 1
4-106155192-T-C c.93T>C p.A31= Synonymous 3/11 - 1
4-106155192-T-G c.93T>G p.A31= Synonymous 3/11 - 1
4-106155199-C-T c.100C>T p.L34F Missense 3/11 - 11
4-106155199-C-A c.100C>A p.L34I Missense 3/11 - 1
4-106155202-C-T c.103C>T p.Q35* Nonsense 3/11 - 3
4-106155206-A-G c.107A>G p.N36S Missense 3/11 - 2
4-106155209-G-T c.110G>T p.G37V Missense 3/11 - 1
4-106155209-G-GATAC c.111_112insTACA p.S38Yfs*6 Frameshift 3/11 - 1
4-106155214-C-T c.115C>T p.P39S Missense 3/11 - 1
4-106155220-C-G c.121C>G p.P41A Missense 3/11 - 1
4-106155221-C-T c.122C>T p.P41L Missense 3/11 - 1
4-106155221-C-CT c.123dup p.E42* Nonsense 3/11 - 1
4-106155223-GAG-TGT c.124_126delinsTGT p.E42C Missense 3/11 - 1
4-106155226-GAGAGCTCATCCA-G c.127_138del p.R43_P46del InFrameDeletion 3/11 - 1
4-106155227-G-T c.128G>T p.R43I Missense 3/11 - 1
4-106155232-CA-GC c.133_134delinsGC p.H45A Missense 3/11 - 1
4-106155233-A-C c.134A>C p.H45P Missense 3/11 - 1
4-106155238-GAA-TTT c.139_141delinsTTT p.E47F Missense 3/11 - 2
4-106155238-G-C c.139G>C p.E47Q Missense 3/11 - 1
4-106155252-C-A c.153C>A p.D51E Missense 3/11 - 1
4-106155256-A-G c.157A>G p.K53E Missense 3/11 - 1
4-106155259-T-A c.160T>A p.W54R Missense 3/11 - 3
4-106155259-T-C c.160T>C p.W54R Missense 3/11 - 3
4-106155260-G-A c.161G>A p.W54* Nonsense 3/11 - 1
4-106155268-TTC-GAG c.169_171delinsGAG p.F57E Missense 3/11 - 1
4-106155269-T-A c.170T>A p.F57Y Missense 3/11 - 1
4-106155275-G-A c.176G>A p.S59N Missense 3/11 - 1
4-106155291-C-CG c.192_193insG p.C65Vfs*8 Frameshift 3/11 - 1
4-106155295-AT-GC c.196_197delinsGC p.M66A Missense 3/11 - 1
4-106155294-TATGA-T c.197_200del p.M66Rfs*8 Frameshift 3/11 - 1
4-106155296-T-C c.197T>C p.M66T Missense 3/11 - 1
4-106155297-TG-T c.198del p.M66Ifs*9 Frameshift 3/11 - 1
4-106155302-G-A c.203G>A p.G68E Missense 3/11 - 2
4-106155309-G-GC c.210_211insC p.N71Qfs*2 Frameshift 3/11 - 1
4-106155307-CAGAATAGTCGTGTGAGTCCTGACTTTACACA-C c.213_243del p.N71Kfs*14 Frameshift 3/11 - 1
4-106155312-ATAGTC-A c.213_217del p.N71Kfs*5 Frameshift 3/11 - 1
4-106155317-G-A c.218G>A p.R73H Missense 3/11 - 1
4-106155323-G-A c.224G>A p.S75N Missense 3/11 - 1
4-106155328-G-GGA c.229_230insGA p.D77Gfs*19 Frameshift 3/11 - 1
4-106155330-C-T c.231C>T p.D77= Synonymous 3/11 - 1
4-106155337-C-T c.238C>T p.Q80* Nonsense 3/11 - 3
4-106155337-C-G c.238C>G p.Q80E Missense 3/11 - 1
4-106155340-G-C c.241G>C p.E81Q Missense 3/11 - 1
4-106155346-A-T c.247A>T p.R83* Nonsense 3/11 - 1
4-106155346-A-C c.247A>C p.R83= Synonymous 3/11 - 1
4-106155350-G-A c.251G>A p.G84E Missense 3/11 - 2
4-106155353-AT-A c.256del p.S86Pfs*9 Frameshift 3/11 - 1
4-106155355-T-G c.256T>G p.S86A Missense 3/11 - 1
4-106155356-C-T c.257C>T p.S86F Missense 3/11 - 1
4-106155358-A-G c.259A>G p.K87E Missense 3/11 - 1
4-106155361-T-C c.262T>C p.C88R Missense 3/11 - 1
4-106155367-C-T c.268C>T p.Q90* Nonsense 3/11 - 4
4-106155373-G-A c.274G>A p.G92R Missense 3/11 - 1
4-106155374-G-A c.275G>A p.G92E Missense 3/11 - 1
4-106155376-G-T c.277G>T p.G93* Nonsense 3/11 - 1
4-106155377-G-C c.278G>C p.G93A Missense 3/11 - 1
4-106155385-C-T c.286C>T p.R96C Missense 3/11 - 4
4-106155385-ACGCACAGTTAGTG-A c.286_298del p.R96Nfs*13 Frameshift 3/11 - 1
4-106155386-CG-C c.287del p.R96Pfs*17 Frameshift 3/11 - 1
4-106155387-C-T c.288C>T p.R96= Synonymous 3/11 - 1
4-106155388-A-G c.289A>G p.T97A Missense 3/11 - 1
4-106155386-GCA-G c.290_291del p.T97Sfs*2 Frameshift 3/11 - 1
4-106155389-C-T c.290C>T p.T97I Missense 3/11 - 1
4-106155391-G-A c.292G>A p.V98I Missense 3/11 - 1
4-106155394-AG-GC c.295_296delinsGC p.S99A Missense 3/11 - 3
4-106155394-AG-GA c.295_296delinsGA p.S99D Missense 3/11 - 1
4-106155395-G-GCT c.296_297insCT p.E100Lfs*14 Frameshift 3/11 - 1
4-106155397-G-T c.298G>T p.E100* Nonsense 3/11 - 1
4-106155400-C-A c.301C>A p.P101T Missense 3/11 - 1
4-106155401-C-A c.302C>A p.P101H Missense 3/11 - 1
4-106155406-C-G c.307C>G p.L103V Missense 3/11 - 1
4-106155407-CT-C c.308del p.L103Pfs*10 Frameshift 3/11 - 1
4-106155407-T-C c.308T>C p.L103P Missense 3/11 - 1
4-106155409-T-G c.310T>G p.S104A Missense 3/11 - 1
4-106155402-TTC-T c.311_312del p.S104Wfs*15 Frameshift 3/11 - 1
4-106155411-T-TG c.315dup p.L106Afs*14 Frameshift 3/11 - 1
4-106155415-C-G c.316C>G p.L106V Missense 3/11 - 1
4-106155417-TCCTTCAGATCAAGA-T c.318_331del p.L107Ifs*8 Frameshift 3/11 - 1
4-106155418-C-T c.319C>T p.L107F Missense 3/11 - 1
4-106155418-CTT-TAA c.319_321delinsTAA p.L107* Nonsense 3/11 - 1
4-106155419-T-A c.320T>A p.L107H Missense 3/11 - 1
4-106155419-T-G c.320T>G p.L107R Missense 3/11 - 1
4-106155418-CT-C c.321del p.Q108Rfs*5 Frameshift 3/11 - 1
4-106155421-C-T c.322C>T p.Q108* Nonsense 3/11 - 1
4-106155422-A-G c.323A>G p.Q108R Missense 3/11 - 1
4-106155422-A-T c.323A>T p.Q108L Missense 3/11 - 1
4-106155426-C-CT c.327_328insT p.K110* Nonsense 3/11 - 1
4-106155427-A-T c.328A>T p.K110* Nonsense 3/11 - 1
4-106155428-A-G c.329A>G p.K110R Missense 3/11 - 1
4-106155430-A-T c.331A>T p.K111* Nonsense 3/11 - 1
4-106155434-T-C c.335T>C p.L112S Missense 3/11 - 1
4-106155445-C-T c.346C>T p.Q116* Nonsense 3/11 - 1
4-106155453-CT-C c.354del p.N119Mfs*9 Frameshift 3/11 - 1
4-106155455-A-G c.356A>G p.N119S Missense 3/11 - 1
4-106155457-G-A c.358G>A p.G120R Missense 3/11 - 1
4-106155463-AG-CT c.364_365inv p.R122L Missense 3/11 - 1
4-106155466-C-T c.367C>T p.R123C Missense 3/11 - 3
4-106155466-C-G c.367C>G p.R123G Missense 3/11 - 1
4-106155466-C-A c.367C>A p.R123S Missense 3/11 - 1
4-106155466-CGT-TGA c.367_369delinsTGA p.R123* Nonsense 3/11 - 1
4-106155467-G-A c.368G>A p.R123H Missense 3/11 - 5
4-106155467-G-T c.368G>T p.R123L Missense 3/11 - 2
4-106155467-G-C c.368G>C p.R123P Missense 3/11 - 1
4-106155467-CG-C c.368del p.R123Lfs*5 Frameshift 3/11 - 2
4-106155467-G-GT c.369dup p.N124* Nonsense 3/11 - 2
4-106155472-TT-CC c.373_374delinsCC p.F125P Missense 3/11 - 1
4-106155478-G-T c.379G>T p.V127L Missense 3/11 - 1
4-106155478-G-C c.379G>C p.V127L Missense 3/11 - 1
4-106155479-T-C c.380T>C p.V127A Missense 3/11 - 1
4-106155482-G-A c.383G>A p.S128N Missense 3/11 - 1
4-106155484-C-A c.385C>A p.Q129K Missense 3/11 - 1
4-106155489-A-ATGGT c.390_391insTGGT p.R131Wfs*2 Frameshift 3/11 - 1
4-106155491-GA-G c.395del p.N132Ifs*13 Frameshift 3/11 - 2
4-106155495-TC-T c.398del p.P133Qfs*12 Frameshift 3/11 - 1
4-106155504-A-AT c.405_406insT p.S136* Nonsense 3/11 - 1
4-106155507-GCAGTCAACCAAATGTCTCCGAT-G c.408_429del p.S137* Frameshift 3/11 - 1
4-106155511-C-T c.412C>T p.Q138* Nonsense 3/11 - 2
4-106155511-C-G c.412C>G p.Q138E Missense 3/11 - 1
4-106155512-A-T c.413A>T p.Q138L Missense 3/11 - 1
4-106155514-C-T c.415C>T p.P139S Missense 3/11 - 1
4-106155515-CCA-C c.416_417del p.P139Qfs*7 Frameshift 3/11 - 1
4-106155515-CA-C c.419del p.N140Mfs*5 Frameshift 3/11 - 1
4-106155523-CTCCG-C c.424_427del p.S142Ifs*2 Frameshift 3/11 - 1
4-106155526-G-A c.427G>A p.D143N Missense 3/11 - 1
4-106155526-G-GA c.428dup p.D143Efs*4 Frameshift 3/11 - 1
4-106155528-ATTTGAGTGAT-A c.429_438del p.D143Efs*6 Frameshift 3/11 - 1
4-106155530-T-TA c.431_432insA p.S145Efs*2 Frameshift 3/11 - 1
4-106155531-G-C c.432G>C p.L144F Missense 3/11 - 1
4-106155533-G-A c.434G>A p.S145N Missense 3/11 - 3
4-106155534-T-G c.435T>G p.S145R Missense 3/11 - 2
4-106155535-G-C c.436G>C p.D146H Missense 3/11 - 2
4-106155538-TAA-T c.439_440del p.K147Efs*14 Frameshift 3/11 - 1
4-106155544-G-T c.445G>T p.E149* Nonsense 3/11 - 2
4-106155547-AT-A c.448del p.S150Lfs*2 Frameshift 3/11 - 1
4-106155549-T-TTTCTTATC c.450_451insTTCTTATC p.V151Ffs*4 Frameshift 3/11 - 1
4-106155554-G-A c.455G>A p.S152N Missense 3/11 - 1
4-106155554-G-GT c.457dup p.S153Ffs*9 Frameshift 3/11 - 1
4-106155557-C-CT c.459dup p.V154Cfs*8 Frameshift 3/11 - 1
4-106155562-AG-A c.463del p.A155Pfs*28 Frameshift 3/11 - 1
4-106155568-G-A c.469G>A p.E157K Missense 3/11 - 1
4-106155569-A-C c.470A>C p.E157A Missense 3/11 - 3
4-106155574-G-A c.475G>A p.A159T Missense 3/11 - 1
4-106155575-C-CGTATGA c.476_477insGTATGA p.A159_V160insYE InFrameInsertion 3/11 - 1
4-106155590-C-T c.491C>T p.T164I Missense 3/11 - 1
4-106155599-C-A c.500C>A p.S167* Nonsense 3/11 - 1
4-106155599-C-G c.500C>G p.S167* Nonsense 3/11 - 1
4-106155604-C-T c.505C>T p.H169Y Missense 3/11 - 1
4-106155604-CAT-C c.507_508del p.H169Qfs*6 Frameshift 3/11 - 1
4-106155607-AAC-TAA c.508_510delinsTAA p.N170* Nonsense 3/11 - 1
4-106155606-T-TA c.509dup p.N170Kfs*6 Frameshift 3/11 - 1
4-106155611-G-T c.512G>T p.C171F Missense 3/11 - 1
4-106155616-G-A c.517G>A p.G173R Missense 3/11 - 1
4-106155620-C-A c.521C>A p.P174H Missense 3/11 - 9
4-106155623-A-G c.524A>G p.E175G Missense 3/11 - 1
4-106155626-A-G c.527A>G p.N176S Missense 3/11 - 1
4-106155627-TC-T c.530del p.P177Qfs*6 Frameshift 3/11 - 1
4-106155631-G-T c.532G>T p.E178* Nonsense 3/11 - 1
4-106155637-C-T c.538C>T p.Q180* Nonsense 3/11 - 1
4-106155638-CA-C c.539del p.Q180Rfs*3 Frameshift 3/11 - 1
4-106155640-AT-A c.543del p.L182* Frameshift 3/11 - 2
4-106155652-C-T c.553C>T p.Q185* Nonsense 3/11 - 2
4-106155655-G-A c.556G>A p.E186K Missense 3/11 - 1
4-106155658-G-A c.559G>A p.G187R Missense 3/11 - 1
4-106155656-A-AG c.561dup p.K188Efs*4 Frameshift 3/11 - 1
4-106155661-A-C c.562A>C p.K188Q Missense 3/11 - 1
4-106155661-A-G c.562A>G p.K188E Missense 3/11 - 1
4-106155668-C-T c.569C>T p.A190V Missense 3/11 - 1
4-106155669-CT-C c.570del p.N191Ifs*16 Frameshift 3/11 - 1
4-106155673-T-C c.574T>C p.Y192H Missense 3/11 - 1
4-106155674-A-AAAT c.575_576insAAT p.Y192delins* Nonsense 3/11 - 1
4-106155675-C-G c.576C>G p.Y192* Nonsense 3/11 - 1
4-106155676-C-T c.577C>T p.H193Y Missense 3/11 - 1
4-106155680-A-C c.581A>C p.D194A Missense 3/11 - 1
4-106155687-C-G c.588C>G p.N196K Missense 3/11 - 1
4-106155687-C-A c.588C>A p.N196K Missense 3/11 - 1
4-106155688-CA-C c.589del p.I197Lfs*10 Frameshift 3/11 - 1
4-106155690-T-G c.591T>G p.I197M Missense 3/11 - 1
4-106155693-A-AT c.596dup p.L199Ffs*3 Frameshift 3/11 - 1
4-106155700-A-T c.601A>T p.K201* Nonsense 3/11 - 1
4-106155699-TAA-T c.604_605del p.N202Qfs*7 Frameshift 3/11 - 1
4-106155705-C-T c.606C>T p.N202= Synonymous 3/11 - 1
4-106155709-G-A c.610G>A p.A204T Missense 3/11 - 1
4-106155727-G-C c.628G>C p.G210R Missense 3/11 - 1
4-106155739-T-TA c.640_641insA p.S214Yfs*11 Frameshift 3/11 - 1
4-106155736-GT-G c.640del p.S214Lfs*36 Frameshift 3/11 - 1
4-106155739-TC-CT c.640_641delinsCT p.S214L Missense 3/11 - 1
4-106155740-CT-AA c.641_642delinsAA p.S214* Nonsense 3/11 - 1
4-106155743-C-T c.644C>T p.A215V Missense 3/11 - 2
4-106155749-C-T c.650C>T p.S217F Missense 3/11 - 1
4-106155748-TC-T c.651del p.V218Wfs*32 Frameshift 3/11 - 4
4-106155751-G-A c.652G>A p.V218M Missense 3/11 - 17
4-106155751-G-T c.652G>T p.V218L Missense 3/11 - 1
4-106155751-CG-C c.652del p.V218Wfs*32 Frameshift 3/11 - 1
4-106155754-G-T c.655G>T p.E219* Nonsense 3/11 - 2
4-106155754-G-A c.655G>A p.E219K Missense 3/11 - 1
4-106155757-C-T c.658C>T p.H220Y Missense 3/11 - 1
4-106155763-CAT-TGG c.664_666delinsTGG p.H222W Missense 3/11 - 1
4-106155767-G-A c.668G>A p.G223D Missense 3/11 - 1
4-106155773-TC-T c.676del p.L226Wfs*24 Frameshift 3/11 - 1
4-106155777-G-GT c.678_679insT p.E227* Nonsense 3/11 - 1
4-106155778-G-T c.679G>T p.E227* Nonsense 3/11 - 2
4-106155778-G-GGGCT c.679_680insGGCT p.E227Gfs*28 Frameshift 3/11 - 1
4-106155782-A-G c.683A>G p.K228R Missense 3/11 - 1
4-106155778-G-GA c.685dup p.T229Nfs*25 Frameshift 3/11 - 4
4-106155778-GA-G c.685del p.T229Hfs*21 Frameshift 3/11 - 1
4-106155785-AC-A c.686del p.T229Nfs*21 Frameshift 3/11 - 1
4-106155787-ACT-A c.688_689del p.L230Vfs*23 Frameshift 3/11 - 1
4-106155793-C-T c.694C>T p.Q232* Nonsense 3/11 - 4
4-106155794-A-G c.695A>G p.Q232R Missense 3/11 - 1
4-106155794-A-C c.695A>C p.Q232P Missense 3/11 - 1
4-106155800-A-G c.701A>G p.Y234C Missense 3/11 - 1
4-106155801-T-A c.702T>A p.Y234* Nonsense 3/11 - 1
4-106155801-T-G c.702T>G p.Y234* Nonsense 3/11 - 1
4-106155810-T-A c.711T>A p.C237* Nonsense 3/11 - 1
4-106155811-G-T c.712G>T p.V238F Missense 3/11 - 1
4-106155817-A-G c.718A>G p.I240V Missense 3/11 - 1
4-106155820-G-A c.721G>A p.A241T Missense 3/11 - 1
4-106155821-C-T c.722C>T p.A241V Missense 3/11 - 2
4-106155838-TCTCA-T c.741_744del p.H248* Frameshift 3/11 - 1
4-106155841-CA-AG c.742_743delinsAG p.H248S Missense 3/11 - 2
4-106155841-C-T c.742C>T p.H248Y Missense 3/11 - 1
4-106155843-C-A c.744C>A p.H248Q Missense 3/11 - 3
4-106155853-A-G c.754A>G p.I252V Missense 3/11 - 1
4-106155857-ACAGT-A c.762_765del p.S254Rfs*38 Frameshift 3/11 - 2
4-106155862-C-T c.763C>T p.Q255* Nonsense 3/11 - 1
4-106155865-G-A c.766G>A p.A256T Missense 3/11 - 2
4-106155866-C-G c.767C>G p.A256G Missense 3/11 - 1
4-106155872-A-G c.773A>G p.N258S Missense 3/11 - 1
4-106155872-A-AT c.774dup p.E259* Nonsense 3/11 - 1
4-106155876-G-GT c.779dup p.L260Ffs*4 Frameshift 3/11 - 1
4-106155877-TTG-T c.780_781del p.L260Ffs*3 Frameshift 3/11 - 1
4-106155879-TG-T c.780del p.L260Ffs*33 Frameshift 3/11 - 1
4-106155886-G-C c.787G>C p.E263Q Missense 3/11 - 1
4-106155886-G-T c.787G>T p.E263* Nonsense 3/11 - 1
4-106155895-C-G c.796C>G p.H266D Missense 3/11 - 1
4-106155898-C-T c.799C>T p.P267S Missense 3/11 - 2
4-106155901-T-G c.802T>G p.S268A Missense 3/11 - 1
4-106155902-C-A c.803C>A p.S268* Nonsense 3/11 - 1
4-106155906-T-A c.807T>A p.H269Q Missense 3/11 - 1
4-106155910-T-C c.811T>C p.S271P Missense 3/11 - 1
4-106155916-C-T c.817C>T p.Q273* Nonsense 3/11 - 1
4-106155921-TC-T c.822del p.N275Ifs*18 Frameshift 3/11 - 11
4-106155921-C-CT c.822_823insT p.N275* Nonsense 3/11 - 1
4-106155921-CA-C c.824del p.N275Ifs*18 Frameshift 3/11 - 3
4-106155928-G-A c.829G>A p.A277T Missense 3/11 - 1
4-106155928-GC-CA c.829_830delinsCA p.A277Q Missense 3/11 - 1
4-106155930-A-C c.831A>C p.A277= Synonymous 3/11 - 1
4-106155930-A-G c.831A>G p.A277= Synonymous 3/11 - 1
4-106155930-A-T c.831A>T p.A277= Synonymous 3/11 - 1
4-106155931-C-T c.832C>T p.Q278* Nonsense 3/11 - 3
4-106155938-C-CT c.840dup p.N281* Nonsense 3/11 - 2
4-106155940-AAC-TAA c.841_843delinsTAA p.N281* Nonsense 3/11 - 1
4-106155941-ACT-A c.845_846del p.S282* Frameshift 3/11 - 1
4-106155946-G-C c.847G>C p.E283Q Missense 3/11 - 1
4-106155948-G-C c.849G>C p.E283D Missense 3/11 - 1
4-106155948-G-T c.849G>T p.E283D Missense 3/11 - 1
4-106155957-A-C c.858A>C p.P286= Synonymous 3/11 - 1
4-106155958-A-T c.859A>T p.K287* Nonsense 3/11 - 1
4-106155961-C-A c.862C>A p.P288T Missense 3/11 - 1
4-106155962-C-G c.863C>G p.P288R Missense 3/11 - 1
4-106155963-CAG-C c.864_865del p.A289Cfs*5 Frameshift 3/11 - 1
4-106155968-C-G c.869C>G p.A290G Missense 3/11 - 1
4-106155973-GTG-TTT c.874_876delinsTTT p.V292F Missense 3/11 - 1
4-106155972-GGTGA-G c.879_882del p.S293Rfs*14 Frameshift 3/11 - 1
4-106155978-T-C c.879T>C p.S293= Synonymous 3/11 - 1
4-106155979-G-T c.880G>T p.E294* Nonsense 3/11 - 1
4-106155994-G-T c.895G>T p.D299Y Missense 3/11 - 1
4-106155996-AT-A c.897del p.D299Efs*9 Frameshift 3/11 - 1
4-106155998-A-G c.899A>G p.D300G Missense 3/11 - 1
4-106156003-G-C c.904G>C p.D302H Missense 3/11 - 4
4-106156003-TGATAA-T c.904_908del p.D302Cfs*3 Frameshift 3/11 - 1
4-106156003-GAT-G c.906_907del p.D302Efs*4 Frameshift 3/11 - 1
4-106156009-G-T c.910G>T p.A304S Missense 3/11 - 1
4-106156010-C-T c.911C>T p.A304V Missense 3/11 - 1
4-106156009-GC-G c.912del p.S305Vfs*3 Frameshift 3/11 - 1
4-106156013-G-GT c.915dup p.K306* Nonsense 3/11 - 1
4-106156015-TAAAC-T c.916_919del p.K306* Frameshift 3/11 - 1
4-106156019-T-G c.920T>G p.L307R Missense 3/11 - 2
4-106156021-G-A c.922G>A p.A308T Missense 3/11 - 1
4-106156028-T-G c.929T>G p.M310R Missense 3/11 - 1
4-106156025-CAATGCTA-C c.930_936del p.M310Ifs*35 Frameshift 3/11 - 1
4-106156034-A-G c.935A>G p.N312S Missense 3/11 - 1
4-106156041-T-TA c.942_943insA p.S315Ifs*16 Frameshift 3/11 - 1
4-106156040-GT-G c.943del p.S315Pfs*32 Frameshift 3/11 - 1
4-106156043-TCC-T c.944_945del p.S315Ffs*15 Frameshift 3/11 - 2
4-106156042-TC-T c.945del p.Q317Rfs*30 Frameshift 3/11 - 3
4-106156048-C-T c.949C>T p.Q317* Nonsense 3/11 - 3
4-106156049-A-T c.950A>T p.Q317L Missense 3/11 - 1
4-106156049-CA-C c.950del p.Q317Rfs*30 Frameshift 3/11 - 1
4-106156050-G-T c.951G>T p.Q317H Missense 3/11 - 1
4-106156050-G-C c.951G>C p.Q317H Missense 3/11 - 3
4-106156051-A-T c.952A>T p.K318* Nonsense 3/11 - 1
4-106156050-GA-G c.954del p.K318Nfs*29 Frameshift 3/11 - 1
4-106156053-AC-A c.956del p.P319Qfs*28 Frameshift 3/11 - 1
4-106156060-C-T c.961C>T p.Q321* Nonsense 3/11 - 1
4-106156057-GAAC-G c.962_964del p.Q321del InFrameDeletion 3/11 - 2
4-106156063-AC-A c.964del p.L322Yfs*25 Frameshift 3/11 - 1
4-106156066-C-T c.967C>T p.Q323* Nonsense 3/11 - 2
4-106156069-C-T c.970C>T p.Q324* Nonsense 3/11 - 2
4-106156069-C-A c.970C>A p.Q324K Missense 3/11 - 1
4-106156071-A-T c.972A>T p.Q324H Missense 3/11 - 4
4-106156071-A-C c.972A>C p.Q324H Missense 3/11 - 4
4-106156071-A-G c.972A>G p.Q324= Synonymous 3/11 - 1
4-106156072-C-T c.973C>T p.Q325* Nonsense 3/11 - 6
4-106156072-CA-C c.978del p.K326Nfs*21 Frameshift 3/11 - 1
4-106156079-C-A c.980C>A p.S327* Nonsense 3/11 - 2
4-106156079-C-G c.980C>G p.S327* Nonsense 3/11 - 2
4-106156081-G-GT c.987dup p.E330* Nonsense 3/11 - 1
4-106156081-GT-G c.987del p.F329Lfs*18 Frameshift 3/11 - 1
4-106156088-A-T c.989A>T p.E330V Missense 3/11 - 1
4-106156094-G-A c.995G>A p.C332Y Missense 3/11 - 1
4-106156097-C-T c.998C>T p.P333L Missense 3/11 - 1
4-106156094-G-GC c.998dup p.S334Ifs*6 Frameshift 3/11 - 1
4-106156100-C-T c.1001C>T p.S334F Missense 3/11 - 2
4-106156105-G-A c.1006G>A p.A336T Missense 3/11 - 1
4-106156106-GCA-G c.1007_1008del p.A336Gfs*3 Frameshift 3/11 - 1
4-106156106-C-CA c.1008dup p.E337Rfs*3 Frameshift 3/11 - 1
4-106156108-G-T c.1009G>T p.E337* Nonsense 3/11 - 1
4-106156108-GA-G c.1013del p.N338Ifs*9 Frameshift 3/11 - 1
4-106156111-AATAAC-A c.1015_1019del p.N339Pfs*10 Frameshift 3/11 - 1
4-106156113-TAACATCC-T c.1016_1022del p.N339Rfs*6 Frameshift 3/11 - 1
4-106156113-TA-T c.1016del p.N339Tfs*8 Frameshift 3/11 - 1
4-106156121-A-G c.1022A>G p.Q341R Missense 3/11 - 1
4-106156123-G-T c.1024G>T p.G342* Nonsense 3/11 - 1
4-106156129-A-G c.1030A>G p.T344A Missense 3/11 - 1
4-106156136-T-TC c.1037_1038insC p.A347Sfs*4 Frameshift 3/11 - 1
4-106156135-C-CT c.1037dup p.A347Sfs*4 Frameshift 3/11 - 1
4-106156136-T-C c.1037T>C p.L346P Missense 3/11 - 1
4-106156139-C-T c.1040C>T p.A347V Missense 3/11 - 2
4-106156144-GGT-TGG c.1045_1047delinsTGG p.G349W Missense 3/11 - 1
4-106156144-GGT-G c.1047_1048del p.E350Rfs*18 Frameshift 3/11 - 1
4-106156147-G-A c.1048G>A p.E350K Missense 3/11 - 1
4-106156150-G-T c.1051G>T p.E351* Nonsense 3/11 - 1
4-106156160-C-A c.1061C>A p.S354* Nonsense 3/11 - 3
4-106156160-C-G c.1061C>G p.S354* Nonsense 3/11 - 3
4-106156160-TC-T c.1061del p.S354* Frameshift 3/11 - 1
4-106156162-GG-AA c.1063_1064delinsAA p.G355N Missense 3/11 - 1
4-106156163-G-A c.1064G>A p.G355D Missense 3/11 - 16
4-106156171-A-G c.1072A>G p.S358G Missense 3/11 - 1
4-106156174-A-T c.1075A>T p.N359Y Missense 3/11 - 1
4-106156174-CAAT-C c.1075_1077del p.N359del InFrameDeletion 3/11 - 1
4-106156177-T-A c.1078T>A p.L360M Missense 3/11 - 1
4-106156180-C-T c.1081C>T p.Q361* Nonsense 3/11 - 3
4-106156187-C-T c.1088C>T p.P363L Missense 3/11 - 13
4-106156201-G-T c.1102G>T p.E368* Nonsense 3/11 - 1
4-106156204-C-T c.1105C>T p.R369W Missense 3/11 - 1
4-106156209-T-A c.1110T>A p.Y370* Nonsense 3/11 - 1
4-106156209-T-G c.1110T>G p.Y370* Nonsense 3/11 - 1
4-106156211-T-A c.1112T>A p.L371* Nonsense 3/11 - 1
4-106156217-CAAAAT-C c.1118_1122del p.Q373Rfs*15 Frameshift 3/11 - 2
4-106156216-C-CA c.1121dup p.N374Kfs*2 Frameshift 3/11 - 1
4-106156220-A-T c.1121A>T p.N374I Missense 3/11 - 1
4-106156222-G-T c.1123G>T p.E375* Nonsense 3/11 - 3
4-106156227-TG-T c.1128del p.M376Ifs*51 Frameshift 3/11 - 1
4-106156235-C-T c.1136C>T p.A379V Missense 3/11 - 1
4-106156242-TC-T c.1143del p.F381Lfs*46 Frameshift 3/11 - 1
4-106156244-A-T c.1145A>T p.K382M Missense 3/11 - 1
4-106156246-C-T c.1147C>T p.Q383* Nonsense 3/11 - 1
4-106156251-C-G c.1152C>G p.S384R Missense 3/11 - 1
4-106156251-C-A c.1152C>A p.S384R Missense 3/11 - 1
4-106156249-A-C c.1150A>C p.S384R Missense 3/11 - 1
4-106156253-C-A c.1154C>A p.S385* Nonsense 3/11 - 1
4-106156253-C-G c.1154C>G p.S385* Nonsense 3/11 - 1
4-106156253-TC-T c.1154del p.S385* Frameshift 3/11 - 1
4-106156255-G-C c.1156G>C p.V386L Missense 3/11 - 1
4-106156255-G-T c.1156G>T p.V386L Missense 3/11 - 3
4-106156257-GTTCAC-G c.1160_1164del p.F387* Frameshift 3/11 - 1
4-106156264-A-T c.1165A>T p.K389* Nonsense 3/11 - 1
4-106156264-A-C c.1165A>C p.K389Q Missense 3/11 - 1
4-106156265-A-T c.1166A>T p.K389M Missense 3/11 - 1
4-106156277-TC-T c.1178del p.S393Lfs*34 Frameshift 3/11 - 2
4-106156283-AC-A c.1184del p.T395Ifs*32 Frameshift 3/11 - 1
4-106156286-C-T c.1187C>T p.T396I Missense 3/11 - 1
4-106156284-TACCACACCACCACCACCATCACA-T c.1187_1209del p.T396Ifs*39 Frameshift 3/11 - 1
4-106156285-AC-A c.1188del p.T397Hfs*30 Frameshift 3/11 - 1
4-106156292-C-CA c.1194dup p.P399Tfs*44 Frameshift 3/11 - 1
4-106156295-C-T c.1196C>T p.P399L Missense 3/11 - 1
4-106156301-C-T c.1202C>T p.P401L Missense 3/11 - 1
4-106156303-T-TCGACGCACCTCGGCGGCTCCAGCTGCTCCACCTGCAGCGCGC c.1205_1206insGACGCACCTCGGCGGCTCCAGCTGCTCCACCTGCAGCGCGCC p.S402_Q403insTHLGGSSCSTCSAP InFrameInsertion 3/11 - 1
4-106156306-C-T c.1207C>T p.Q403* Nonsense 3/11 - 3
4-106156312-CT-C c.1215del p.L406Ffs*21 Frameshift 3/11 - 1
4-106156312-CTTCT-C c.1218_1221del p.S407Pfs*19 Frameshift 3/11 - 1
4-106156315-CT-C c.1219del p.S407Lfs*20 Frameshift 3/11 - 2
4-106156318-TTCTC-T c.1219_1222del p.S407Pfs*19 Frameshift 3/11 - 1
4-106156322-CCCCT-C c.1226_1229del p.P409Lfs*17 Frameshift 3/11 - 1
4-106156328-C-T c.1229C>T p.P410L Missense 3/11 - 1
4-106156323-CCCT-C c.1232_1234del p.P411del InFrameDeletion 3/11 - 1
4-106156333-CT-C c.1236del p.P413Hfs*14 Frameshift 3/11 - 1
4-106156334-TTCCACAGG-T c.1237_1244del p.P413Sfs*27 Frameshift 3/11 - 1
4-106156335-TC-T c.1238del p.P413Hfs*14 Frameshift 3/11 - 2
4-106156339-C-T c.1240C>T p.Q414* Nonsense 3/11 - 1
4-106156340-A-G c.1241A>G p.Q414R Missense 3/11 - 1
4-106156340-A-T c.1241A>T p.Q414L Missense 3/11 - 1
4-106156340-AG-A c.1243del p.V415Ffs*12 Frameshift 3/11 - 1
4-106156342-G-GT c.1245dup p.P416Sfs*27 Frameshift 3/11 - 1
4-106156345-C-A c.1246C>A p.P416T Missense 3/11 - 1
4-106156348-C-T c.1249C>T p.Q417* Nonsense 3/11 - 2
4-106156351-GC-G c.1252del p.L418Ffs*9 Frameshift 3/11 - 1
4-106156352-T-TTA c.1254_1255insAT p.P419Ifs*9 Frameshift 3/11 - 1
4-106156353-TC-T c.1256del p.P419Lfs*8 Frameshift 3/11 - 1
4-106156350-GCTTC-G c.1256_1259del p.P419Qfs*7 Frameshift 3/11 - 1
4-106156358-C-A c.1259C>A p.S420* Nonsense 3/11 - 1
4-106156358-C-G c.1259C>G p.S420* Nonsense 3/11 - 1
4-106156362-AG-A c.1265del p.G422Efs*5 Frameshift 3/11 - 1
4-106156371-GC-G c.1272del p.S424Rfs*3 Frameshift 3/11 - 1
4-106156372-ACT-A c.1276_1277del p.L426Efs*16 Frameshift 3/11 - 1
4-106156384-G-A c.1285G>A p.G429R Missense 3/11 - 10
4-106156384-G-C c.1285G>C p.G429R Missense 3/11 - 3
4-106156390-T-G c.1291T>G p.L431V Missense 3/11 - 1
4-106156391-T-A c.1292T>A p.L431* Nonsense 3/11 - 1
4-106156391-T-G c.1292T>G p.L431* Nonsense 3/11 - 1
4-106156391-TAGA-T c.1297_1299del p.E433del InFrameDeletion 3/11 - 2
4-106156396-G-A c.1297G>A p.E433K Missense 3/11 - 1
4-106156396-G-GA c.1299dup p.H434Tfs*9 Frameshift 3/11 - 1
4-106156408-T-C c.1309T>C p.Y437H Missense 3/11 - 1
4-106156406-ACTACCCCAAC-A c.1309_1318del p.Y437Kfs*7 Frameshift 3/11 - 1
4-106156409-A-G c.1310A>G p.Y437C Missense 3/11 - 1
4-106156410-C-A c.1311C>A p.Y437* Nonsense 3/11 - 1
4-106156410-C-G c.1311C>G p.Y437* Nonsense 3/11 - 1
4-106156414-A-G c.1315A>G p.N439D Missense 3/11 - 1
4-106156417-C-T c.1318C>T p.Q440* Nonsense 3/11 - 2
4-106156423-AAC-A c.1328_1329del p.T443Nfs*11 Frameshift 3/11 - 1
4-106156427-CA-C c.1330del p.T444Hfs*3 Frameshift 3/11 - 1
4-106156436-T-A c.1337T>A p.L446* Nonsense 3/11 - 1
4-106156436-T-G c.1337T>G p.L446* Nonsense 3/11 - 2
4-106156441-G-T c.1342G>T p.E448* Nonsense 3/11 - 1
4-106156445-T-C c.1346T>C p.V449A Missense 3/11 - 1
4-106156446-GA-G c.1351del p.I451* Frameshift 3/11 - 1
4-106156453-G-T c.1354G>T p.E452* Nonsense 3/11 - 1
4-106156454-A-C c.1355A>C p.E452A Missense 3/11 - 1
4-106156460-A-G c.1361A>G p.K454R Missense 3/11 - 1
4-106156462-C-T c.1363C>T p.P455S Missense 3/11 - 1
4-106156461-AC-A c.1364del p.P455Lfs*31 Frameshift 3/11 - 1
4-106156465-G-A c.1366G>A p.E456K Missense 3/11 - 1
4-106156475-CT-C c.1378del p.S460Pfs*26 Frameshift 3/11 - 1
4-106156478-C-T c.1379C>T p.S460F Missense 3/11 - 4
4-106156480-C-T c.1381C>T p.Q461* Nonsense 3/11 - 2
4-106156485-T-C c.1386T>C p.S462= Synonymous 3/11 - 1
4-106156487-C-T c.1388C>T p.P463L Missense 3/11 - 1
4-106156486-CCTAAT-C c.1389_1393del p.N464Ifs*13 Frameshift 3/11 - 1
4-106156488-CT-C c.1389del p.N464Ifs*22 Frameshift 3/11 - 1
4-106156493-C-T c.1394C>T p.P465L Missense 3/11 - 1
4-106156508-G-A c.1409G>A p.C470Y Missense 3/11 - 1
4-106156509-C-CT c.1410_1411insT p.S471* Nonsense 3/11 - 1
4-106156513-C-T c.1414C>T p.P472S Missense 3/11 - 2
4-106156517-C-A c.1418C>A p.S473Y Missense 3/11 - 1
4-106156531-G-T c.1432G>T p.E478* Nonsense 3/11 - 1
4-106156537-C-T c.1438C>T p.P480S Missense 3/11 - 1
4-106156540-C-T c.1441C>T p.Q481* Nonsense 3/11 - 1
4-106156543-AAT-TAA c.1444_1446delinsTAA p.N482* Nonsense 3/11 - 1
4-106156544-A-G c.1445A>G p.N482S Missense 3/11 - 1
4-106156544-A-AT c.1446dup p.N483* Nonsense 3/11 - 1
4-106156550-TG-T c.1451del p.C484Lfs*2 Frameshift 3/11 - 1
4-106156551-T-A c.1452T>A p.C484* Nonsense 3/11 - 1
4-106156553-T-C c.1454T>C p.V485A Missense 3/11 - 1
4-106156556-A-C c.1457A>C p.N486T Missense 3/11 - 1
4-106156565-A-G c.1466A>G p.D489G Missense 3/11 - 1
4-106156570-C-T c.1471C>T p.Q491* Nonsense 3/11 - 3
4-106156574-ACT-A c.1475_1476del p.T492Sfs*11 Frameshift 3/11 - 1
4-106156577-GCAGGGACA-G c.1478_1485del p.A493Dfs*8 Frameshift 3/11 - 1
4-106156577-C-CA c.1479dup p.G494Rfs*10 Frameshift 3/11 - 1
4-106156580-G-T c.1481G>T p.G494V Missense 3/11 - 1
4-106156589-C-G c.1490C>G p.T497S Missense 3/11 - 1
4-106156593-TC-T c.1496del p.P499Hfs*34 Frameshift 3/11 - 2
4-106156601-G-GT c.1504dup p.S502Ffs*2 Frameshift 3/11 - 1
4-106156606-G-T c.1507G>T p.E503* Nonsense 3/11 - 1
4-106156609-GAAAA-G c.1510_1513del p.K504Qfs*28 Frameshift 3/11 - 2
4-106156609-A-T c.1510A>T p.K504* Nonsense 3/11 - 1
4-106156619-C-T c.1520C>T p.P507L Missense 3/11 - 1
4-106156623-G-A c.1524G>A p.M508I Missense 3/11 - 1
4-106156625-C-A c.1526C>A p.S509* Nonsense 3/11 - 4
4-106156625-C-G c.1526C>G p.S509* Nonsense 3/11 - 5
4-106156626-A-AT c.1527_1528insT p.E510* Nonsense 3/11 - 1
4-106156627-G-GA c.1530dup p.H511Tfs*5 Frameshift 3/11 - 1
4-106156636-A-T c.1537A>T p.K513* Nonsense 3/11 - 2
4-106156638-G-A c.1539G>A p.K513= Synonymous 3/11 - 1
4-106156640-A-G c.1541A>G p.H514R Missense 3/11 - 1
4-106156645-CCCACCAATTT-C c.1546_1555del p.P516Lfs*14 Frameshift 3/11 - 1
4-106156645-C-A c.1546C>A p.P516T Missense 3/11 - 1
4-106156643-AC-A c.1547del p.P516Hfs*17 Frameshift 3/11 - 1
4-106156647-CA-C c.1548del p.P517Qfs*16 Frameshift 3/11 - 1
4-106156651-AT-A c.1557del p.F519Lfs*14 Frameshift 3/11 - 3
4-106156666-G-T c.1567G>T p.G523* Nonsense 3/11 - 1
4-106156666-G-GA c.1567_1568insA p.G523Efs*44 Frameshift 3/11 - 1
4-106156665-T-TG c.1568dup p.E524Rfs*43 Frameshift 3/11 - 1
4-106156675-C-T c.1576C>T p.Q526* Nonsense 3/11 - 2
4-106156678-GGA-G c.1579_1580del p.D527Qfs*39 Frameshift 3/11 - 1
4-106156676-A-AG c.1579dup p.D527Gfs*40 Frameshift 3/11 - 1
4-106156680-AC-A c.1581del p.D527Efs*6 Frameshift 3/11 - 1
4-106156683-C-G c.1584C>G p.N528K Missense 3/11 - 1
4-106156683-C-A c.1584C>A p.N528K Missense 3/11 - 1
4-106156687-CA-TG c.1588_1589inv p.Q530W Missense 3/11 - 1
4-106156687-C-T c.1588C>T p.Q530* Nonsense 3/11 - 2
4-106156690-C-T c.1591C>T p.Q531* Nonsense 3/11 - 2
4-106156692-GT-G c.1595del p.L532* Frameshift 3/11 - 1
4-106156694-T-A c.1595T>A p.L532* Nonsense 3/11 - 1
4-106156696-A-G c.1597A>G p.M533V Missense 3/11 - 1
4-106156697-T-C c.1598T>C p.M533T Missense 3/11 - 2
4-106156697-AT-A c.1598del p.M533Rfs*9 Frameshift 3/11 - 1
4-106156698-G-A c.1599G>A p.M533I Missense 3/11 - 1
4-106156700-GAAAC-G c.1605_1608del p.N535Kfs*6 Frameshift 3/11 - 1
4-106156704-C-CA c.1608dup p.E537Rfs*30 Frameshift 3/11 - 1
4-106156708-G-T c.1609G>T p.E537* Nonsense 3/11 - 2
4-106156711-C-T c.1612C>T p.Q538* Nonsense 3/11 - 1
4-106156711-GC-G c.1612del p.Q538Kfs*4 Frameshift 3/11 - 1
4-106156714-G-T c.1615G>T p.E539* Nonsense 3/11 - 1
4-106156717-GA-G c.1618del p.I540Ffs*2 Frameshift 3/11 - 1
4-106156717-AT-A c.1620del p.L541* Frameshift 3/11 - 2
4-106156723-A-T c.1624A>T p.K542* Nonsense 3/11 - 1
4-106156727-G-A c.1628G>A p.G543D Missense 3/11 - 1
4-106156727-G-T c.1628G>T p.G543V Missense 3/11 - 1
4-106156727-G-C c.1628G>C p.G543A Missense 3/11 - 1
4-106156729-C-T c.1630C>T p.R544* Nonsense 3/11 - 15
4-106156733-A-C c.1634A>C p.D545A Missense 3/11 - 1
4-106156736-A-G c.1637A>G p.K546R Missense 3/11 - 1
4-106156741-C-T c.1642C>T p.Q548* Nonsense 3/11 - 2
4-106156741-C-G c.1642C>G p.Q548E Missense 3/11 - 1
4-106156741-C-A c.1642C>A p.Q548K Missense 3/11 - 1
4-106156746-CA-C c.1647del p.R550Efs*11 Frameshift 3/11 - 1
4-106156747-C-T c.1648C>T p.R550* Nonsense 3/11 - 23
4-106156747-C-A c.1648C>A p.R550= Synonymous 3/11 - 1
4-106156748-G-A c.1649G>A p.R550Q Missense 3/11 - 3
4-106156751-GAT-G c.1652_1653del p.D551Afs*15 Frameshift 3/11 - 1
4-106156751-A-C c.1652A>C p.D551A Missense 3/11 - 2
4-106156754-T-C c.1655T>C p.L552P Missense 3/11 - 1
4-106156768-C-T c.1669C>T p.Q557* Nonsense 3/11 - 1
4-106156770-GCA-G c.1673_1674del p.H558Lfs*8 Frameshift 3/11 - 1
4-106156776-T-A c.1677T>A p.Y559* Nonsense 3/11 - 2
4-106156776-T-G c.1677T>G p.Y559* Nonsense 3/11 - 2
4-106156777-TC-T c.1678del p.L560* Frameshift 3/11 - 1
4-106156779-G-GA c.1683dup p.P562Tfs*5 Frameshift 3/11 - 1
4-106156783-C-G c.1684C>G p.P562A Missense 3/11 - 2
4-106156784-CCAGGATGGATTGAA-C c.1685_1698del p.P562Lfs*16 Frameshift 3/11 - 1
4-106156790-G-A c.1691G>A p.W564* Nonsense 3/11 - 5
4-106156791-G-A c.1692G>A p.W564* Nonsense 3/11 - 4
4-106156791-GATTGA-G c.1699_1703del p.L567Gfs*14 Frameshift 3/11 - 1
4-106156799-T-C c.1700T>C p.L567S Missense 3/11 - 1
4-106156800-GA-AT c.1701_1702delinsAT p.K568* Missense 3/11 - 1
4-106156801-A-T c.1702A>T p.K568* Nonsense 3/11 - 1
4-106156802-A-G c.1703A>G p.K568R Missense 3/11 - 1
4-106156810-CGT-TGA c.1711_1713delinsTGA p.R571* Nonsense 3/11 - 3
4-106156810-C-T c.1711C>T p.R571C Missense 3/11 - 3
4-106156811-G-T c.1712G>T p.R571L Missense 3/11 - 1
4-106156811-G-A c.1712G>A p.R571H Missense 3/11 - 2
4-106156812-GTTTTC-G c.1713_1717del p.F572Pfs*9 Frameshift 3/11 - 1
4-106156813-T-G c.1714T>G p.F572V Missense 3/11 - 1
4-106156819-C-T c.1720C>T p.Q574* Nonsense 3/11 - 2
4-106156823-C-T c.1724C>T p.A575V Missense 3/11 - 2
4-106156823-CG-C c.1726del p.E576Nfs*4 Frameshift 3/11 - 1
4-106156828-TC-T c.1732del p.H578Ifs*2 Frameshift 3/11 - 1
4-106156840-C-T c.1741C>T p.R581C Missense 3/11 - 2
4-106156841-G-A c.1742G>A p.R581H Missense 3/11 - 1
4-106156844-A-G c.1745A>G p.N582S Missense 3/11 - 2
4-106156846-GAGGC-G c.1749_1752del p.E583Dfs*17 Frameshift 3/11 - 1
4-106156850-C-T c.1751C>T p.A584V Missense 3/11 - 1
4-106156853-C-A c.1754C>A p.S585* Nonsense 3/11 - 2
4-106156853-C-G c.1754C>G p.S585* Nonsense 3/11 - 3
4-106156853-C-T c.1754C>T p.S585L Missense 3/11 - 1
4-106156862-C-A c.1763C>A p.S588* Nonsense 3/11 - 2
4-106156862-C-G c.1763C>G p.S588* Nonsense 3/11 - 2
4-106156861-T-TC c.1763dup p.I589Nfs*49 Frameshift 3/11 - 1
4-106156862-CA-C c.1765del p.I589Ffs*12 Frameshift 3/11 - 1
4-106156870-TC-T c.1771del p.Q591Sfs*10 Frameshift 3/11 - 2
4-106156870-C-T c.1771C>T p.Q591* Nonsense 3/11 - 4
4-106156872-G-GT c.1774dup p.Y592Lfs*46 Frameshift 3/11 - 1
4-106156875-T-A c.1776T>A p.Y592* Nonsense 3/11 - 1
4-106156875-T-G c.1776T>G p.Y592* Nonsense 3/11 - 1
4-106156875-ATCAAC-A c.1776_1780del p.P594Sfs*42 Frameshift 3/11 - 1
4-106156876-C-T c.1777C>T p.Q593* Nonsense 3/11 - 3
4-106156878-AC-A c.1782del p.N595Ifs*6 Frameshift 3/11 - 1
4-106156881-CA-C c.1784del p.N595Ifs*6 Frameshift 3/11 - 1
4-106156890-CA-C c.1793del p.N598Ifs*3 Frameshift 3/11 - 1
4-106156894-C-T c.1795C>T p.Q599* Nonsense 3/11 - 1
4-106156895-A-G c.1796A>G p.Q599R Missense 3/11 - 2
4-106156899-G-C c.1800G>C p.M600I Missense 3/11 - 2
4-106156899-G-A c.1800G>A p.M600I Missense 3/11 - 2
4-106156899-G-T c.1800G>T p.M600I Missense 3/11 - 2
4-106156901-C-CTTGAATATGATCTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTTG c.1802_1803insTTGAATATGATCTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTTG p.T601_S602ins* Nonsense 3/11 - 1
4-106156900-AC-A c.1803del p.S602Pfs*37 Frameshift 3/11 - 1
4-106156903-TC-T c.1806del p.K603Nfs*36 Frameshift 3/11 - 1
4-106156909-C-T c.1810C>T p.Q604* Nonsense 3/11 - 2
4-106156909-C-A c.1810C>A p.Q604K Missense 3/11 - 1
4-106156913-A-T c.1814A>T p.Y605F Missense 3/11 - 1
4-106156918-G-A c.1819G>A p.G607R Missense 3/11 - 1
4-106156918-G-T c.1819G>T p.G607* Nonsense 3/11 - 1
4-106156929-AC-A c.1830del p.N610Kfs*29 Frameshift 3/11 - 1
4-106156930-CAT-C c.1831_1832del p.M611Afs*26 Frameshift 3/11 - 1
4-106156932-GC-G c.1835del p.P612Lfs*27 Frameshift 3/11 - 3
4-106156935-T-TG c.1842dup p.L615Afs*23 Frameshift 3/11 - 1
4-106156935-TG-T c.1842del p.L615Sfs*24 Frameshift 3/11 - 2
4-106156943-CT-C c.1844del p.L615Pfs*24 Frameshift 3/11 - 1
4-106156946-C-T c.1847C>T p.P616L Missense 3/11 - 1
4-106156947-AAGGCAAGCTT-A c.1850_1859del p.R617Tfs*19 Frameshift 3/11 - 1
4-106156951-C-T c.1852C>T p.Q618* Nonsense 3/11 - 1
4-106156952-AAGCTT-A c.1855_1859del p.A619Hfs*17 Frameshift 3/11 - 1
4-106156959-C-A c.1860C>A p.Y620* Nonsense 3/11 - 1
4-106156959-C-G c.1860C>G p.Y620* Nonsense 3/11 - 1
4-106156963-C-T c.1864C>T p.Q622* Nonsense 3/11 - 4
4-106156965-AG-A c.1866del p.T624Qfs*15 Frameshift 3/11 - 1
4-106156966-A-T c.1867A>T p.K623* Nonsense 3/11 - 1
4-106156973-C-T c.1874C>T p.T625I Missense 3/11 - 1
4-106156975-C-T c.1876C>T p.Q626* Nonsense 3/11 - 2
4-106156981-G-T c.1882G>T p.E628* Nonsense 3/11 - 1
4-106156983-G-A c.1884G>A p.E628= Synonymous 3/11 - 2
4-106156984-C-G c.1885C>G p.H629D Missense 3/11 - 1
4-106156991-C-A c.1892C>A p.S631* Nonsense 3/11 - 3
4-106156991-C-G c.1892C>G p.S631* Nonsense 3/11 - 3
4-106156993-C-T c.1894C>T p.Q632* Nonsense 3/11 - 2
4-106156994-A-G c.1895A>G p.Q632R Missense 3/11 - 1
4-106157001-C-A c.1902C>A p.Y634* Nonsense 3/11 - 1
4-106157001-C-G c.1902C>G p.Y634* Nonsense 3/11 - 1
4-106157002-C-T c.1903C>T p.Q635* Nonsense 3/11 - 4
4-106157002-C-A c.1903C>A p.Q635K Missense 3/11 - 1
4-106157002-CA-C c.1905del p.V636Lfs*3 Frameshift 3/11 - 1
4-106157005-G-T c.1906G>T p.V636F Missense 3/11 - 1
4-106157006-T-C c.1907T>C p.V636A Missense 3/11 - 1
4-106157008-G-T c.1909G>T p.E637* Nonsense 3/11 - 1
4-106157011-A-G c.1912A>G p.M638V Missense 3/11 - 1
4-106157014-A-T c.1915A>T p.N639Y Missense 3/11 - 1
4-106157013-G-GA c.1916dup p.N639Kfs*42 Frameshift 3/11 - 1
4-106157013-GAATC-G c.1917_1920del p.N639Kfs*60 Frameshift 3/11 - 1
4-106157017-C-T c.1918C>T p.Q640* Nonsense 3/11 - 1
4-106157020-G-T c.1921G>T p.G641W Missense 3/11 - 1
4-106157022-GGCAGTCC-G c.1923_1929del p.Q642Kfs*56 Frameshift 3/11 - 1
4-106157019-AG-A c.1923del p.Q642Sfs*58 Frameshift 3/11 - 1
4-106157023-C-T c.1924C>T p.Q642* Nonsense 3/11 - 1
4-106157029-C-T c.1930C>T p.Q644* Nonsense 3/11 - 3
4-106157032-GG-AC c.1933_1934delinsAC p.G645T Missense 3/11 - 1
4-106157031-A-AG c.1934dup p.T646Yfs*35 Frameshift 3/11 - 2
4-106157034-T-TA c.1936dup p.T646Nfs*35 Frameshift 3/11 - 1
4-106157038-G-A c.1939G>A p.V647M Missense 3/11 - 1
4-106157044-C-T c.1945C>T p.Q649* Nonsense 3/11 - 2
4-106157053-C-T c.1954C>T p.Q652* Nonsense 3/11 - 5
4-106157051-TC-T c.1954del p.Q652Sfs*48 Frameshift 3/11 - 1
4-106157054-CA-C c.1955del p.Q652Rfs*48 Frameshift 3/11 - 2
4-106157059-C-T c.1960C>T p.Q654* Nonsense 3/11 - 1
4-106157057-TC-T c.1960del p.Q654Kfs*46 Frameshift 3/11 - 2
4-106157059-CA-C c.1965del p.K655Nfs*45 Frameshift 3/11 - 1
4-106157065-CC-GT c.1966_1967delinsGT p.P656V Missense 3/11 - 1
4-106157064-A-AC c.1968dup p.S657Lfs*24 Frameshift 3/11 - 1
4-106157069-C-A c.1970C>A p.S657* Nonsense 3/11 - 1
4-106157072-A-C c.1973A>C p.H658P Missense 3/11 - 1
4-106157074-C-T c.1975C>T p.Q659* Nonsense 3/11 - 2
4-106157075-CAGGT-C c.1976_1979del p.Q659Rfs*40 Frameshift 3/11 - 1
4-106157075-CA-C c.1976del p.Q659Rfs*41 Frameshift 3/11 - 1
4-106157076-G-A c.1977G>A p.Q659= Synonymous 3/11 - 1
4-106157077-G-C c.1978G>C p.V660L Missense 3/11 - 1
4-106157075-AG-A c.1978del p.V660Cfs*40 Frameshift 3/11 - 1
4-106157085-C-A c.1986C>A p.F662L Missense 3/11 - 1
4-106157092-A-T c.1993A>T p.T665S Missense 3/11 - 1
4-106157096-A-G c.1997A>G p.D666G Missense 3/11 - 1
4-106157097-C-G c.1998C>G p.D666E Missense 3/11 - 1
4-106157098-C-CTG c.1999_2000insTG p.H667Lfs*34 Frameshift 3/11 - 1
4-106157103-AC-A c.2006del p.P669Qfs*31 Frameshift 3/11 - 1
4-106157106-CAAAAG-C c.2007_2011del p.K670Sfs*9 Frameshift 3/11 - 1
4-106157112-TCATGTGCAGTCA-T c.2015_2026del p.H672_S675del InFrameDeletion 3/11 - 1
4-106157119-C-T c.2020C>T p.Q674* Nonsense 3/11 - 3
4-106157120-CAGTCACTG-C c.2021_2028del p.Q674Lfs*4 Frameshift 3/11 - 1
4-106157123-C-G c.2024C>G p.S675* Nonsense 3/11 - 2
4-106157128-TG-AC c.2029_2030delinsAC p.C677T Missense 3/11 - 1
4-106157125-CTG-C c.2031_2032del p.C677Wfs*3 Frameshift 3/11 - 1
4-106157132-G-A c.2033G>A p.G678D Missense 3/11 - 2
4-106157133-C-CA c.2035dup p.T679Nfs*2 Frameshift 3/11 - 1
4-106157139-A-C c.2040A>C p.R680S Missense 3/11 - 1
4-106157139-A-T c.2040A>T p.R680S Missense 3/11 - 1
4-106157144-A-AT c.2049dup p.Q684Sfs*9 Frameshift 3/11 - 1
4-106157149-C-T c.2050C>T p.Q684* Nonsense 3/11 - 2
4-106157152-C-T c.2053C>T p.Q685* Nonsense 3/11 - 1
4-106157152-C-CA c.2056dup p.R686Kfs*7 Frameshift 3/11 - 1
4-106157156-GA-AGG c.2057_2058delinsAGG p.R686Kfs*7 Frameshift 3/11 - 1
4-106157159-C-T c.2060C>T p.A687V Missense 3/11 - 3
4-106157163-T-A c.2064T>A p.D688E Missense 3/11 - 1
4-106157162-AT-A c.2065del p.S689Pfs*11 Frameshift 3/11 - 1
4-106157167-C-T c.2068C>T p.Q690* Nonsense 3/11 - 1
4-106157171-ACTGAAAAACT-A c.2072_2081del p.T691Ifs*6 Frameshift 3/11 - 1
4-106157173-GAA-G c.2078_2079del p.K693Tfs*18 Frameshift 3/11 - 1
4-106157173-GA-G c.2079del p.K693Nfs*7 Frameshift 3/11 - 3
4-106157181-T-TA c.2083dup p.M695Nfs*17 Frameshift 3/11 - 1
4-106157180-TTA-T c.2083_2084del p.M695Vfs*16 Frameshift 3/11 - 1
4-106157185-T-TC c.2090dup p.V698Sfs*14 Frameshift 3/11 - 1
4-106157195-T-A c.2096T>A p.L699* Nonsense 3/11 - 1
4-106157197-A-G c.2098A>G p.K700E Missense 3/11 - 14
4-106157196-GA-G c.2100del p.K700Nfs*4 Frameshift 3/11 - 1
4-106157200-C-T c.2101C>T p.Q701* Nonsense 3/11 - 2
4-106157207-T-A c.2108T>A p.L703* Nonsense 3/11 - 1
4-106157209-A-G c.2110A>G p.N704D Missense 3/11 - 1
4-106157208-G-GA c.2111dup p.N704Kfs*8 Frameshift 3/11 - 1
4-106157210-A-AT c.2112dup p.Q705Sfs*7 Frameshift 3/11 - 1
4-106157212-C-T c.2113C>T p.Q705* Nonsense 3/11 - 2
4-106157215-C-T c.2116C>T p.Q706* Nonsense 3/11 - 3
4-106157218-G-A c.2119G>A p.A707T Missense 3/11 - 1
4-106157222-C-A c.2123C>A p.S708* Nonsense 3/11 - 1
4-106157222-C-G c.2123C>G p.S708* Nonsense 3/11 - 1
4-106157224-G-A c.2125G>A p.E709K Missense 3/11 - 2
4-106157224-G-C c.2125G>C p.E709Q Missense 3/11 - 1
4-106157230-G-T c.2131G>T p.E711* Nonsense 3/11 - 1
4-106157230-G-C c.2131G>C p.E711Q Missense 3/11 - 1
4-106157232-AG-A c.2133del p.E711Dfs*40 Frameshift 3/11 - 1
4-106157246-C-A c.2147C>A p.S716* Nonsense 3/11 - 1
4-106157246-C-G c.2147C>G p.S716* Nonsense 3/11 - 1
4-106157246-C-CA c.2148dup p.H717Tfs*6 Frameshift 3/11 - 1
4-106157245-TCA-T c.2150_2151del p.H717Pfs*5 Frameshift 3/11 - 1
4-106157251-C-G c.2152C>G p.L718V Missense 3/11 - 1
4-106157251-CT-C c.2156del p.L719Cfs*32 Frameshift 3/11 - 1
4-106157256-TG-T c.2157del p.L719Ffs*32 Frameshift 3/11 - 1
4-106157257-C-T c.2158C>T p.Q720* Nonsense 3/11 - 1
4-106157275-C-T c.2176C>T p.Q726* Nonsense 3/11 - 2
4-106157276-CA-C c.2177del p.Q726Rfs*25 Frameshift 3/11 - 1
4-106157278-G-A c.2179G>A p.A727T Missense 3/11 - 1
4-106157278-G-T c.2179G>T p.A727S Missense 3/11 - 2
4-106157279-C-T c.2180C>T p.A727V Missense 3/11 - 1
4-106157278-GCAGCACAAACA-G c.2182_2192del p.A728Tfs*22 Frameshift 3/11 - 1
4-106157284-C-T c.2185C>T p.Q729* Nonsense 3/11 - 4
4-106157290-C-T c.2191C>T p.Q731* Nonsense 3/11 - 3
4-106157286-AAC-A c.2191_2192del p.Q731Tfs*22 Frameshift 3/11 - 1
4-106157299-C-T c.2200C>T p.Q734* Nonsense 3/11 - 2
4-106157302-GAGTTCACA-G c.2203_2210del p.S736Pfs*15 Frameshift 3/11 - 1
4-106157317-C-T c.2218C>T p.Q740* Nonsense 3/11 - 7
4-106157323-C-T c.2224C>T p.Q742* Nonsense 3/11 - 2
4-106157326-GC-G c.2227del p.Q743Nfs*8 Frameshift 3/11 - 1
4-106157326-CA-C c.2229del p.Q743Hfs*8 Frameshift 3/11 - 1
4-106157329-C-T c.2230C>T p.Q744* Nonsense 3/11 - 6
4-106157332-C-T c.2233C>T p.Q745* Nonsense 3/11 - 1
4-106157335-C-T c.2236C>T p.Q746* Nonsense 3/11 - 2
4-106157335-C-CA c.2241dup p.L748Ifs*6 Frameshift 3/11 - 1
4-106157335-CA-C c.2241del p.K747Nfs*4 Frameshift 3/11 - 1
4-106157344-C-T c.2245C>T p.Q749* Nonsense 3/11 - 2
4-106157344-C-A c.2245C>A p.Q749K Missense 3/11 - 1
4-106157344-CAAATA-C c.2248_2252del p.I750Efs*2 Frameshift 3/11 - 1
4-106157344-CAAATAAAGAAT-C c.2249_2259del p.I750Rfs*15 Frameshift 3/11 - 1
4-106157344-CAAAT-C c.2249_2252del p.I750Rfs*62 Frameshift 3/11 - 1
4-106157348-T-C c.2249T>C p.I750T Missense 3/11 - 1
4-106157350-A-T c.2251A>T p.K751* Nonsense 3/11 - 1
4-106157348-TAAAG-T c.2252_2255del p.K751Ifs*61 Frameshift 3/11 - 2
4-106157345-AAATAAAG-A c.2255_2261del p.N752Rfs*59 Frameshift 3/11 - 1
4-106157355-ATAAAGAG-A c.2256_2262del p.N752Kfs*59 Frameshift 3/11 - 1
4-106157356-A-T c.2257A>T p.K753* Nonsense 3/11 - 2
4-106157355-TA-T c.2259del p.E754Rfs*59 Frameshift 3/11 - 1
4-106157355-TAAAGAGG-T c.2260_2266del p.E754Yfs*57 Frameshift 3/11 - 1
4-106157362-GA-G c.2266del p.I756Yfs*57 Frameshift 3/11 - 1
4-106157366-T-TA c.2268dup p.L757Tfs*12 Frameshift 3/11 - 2
4-106157369-CT-C c.2270del p.L757Pfs*56 Frameshift 3/11 - 1
4-106157371-C-T c.2272C>T p.Q758* Nonsense 3/11 - 1
4-106157375-C-CT c.2280dup p.P761Sfs*8 Frameshift 3/11 - 1
4-106157381-C-T c.2282C>T p.P761L Missense 3/11 - 1
4-106157389-C-T c.2290C>T p.Q764* Nonsense 3/11 - 2
4-106157384-AC-A c.2290del p.Q764Kfs*49 Frameshift 3/11 - 1
4-106157384-A-AC c.2290dup p.Q764Pfs*5 Frameshift 3/11 - 9
4-106157389-C-A c.2290C>A p.Q764K Missense 3/11 - 1
4-106157390-A-C c.2291A>C p.Q764P Missense 3/11 - 1
4-106157398-A-G c.2299A>G p.N767D Missense 3/11 - 2
4-106157397-C-CA c.2300dup p.N767Kfs*2 Frameshift 3/11 - 1
4-106157404-C-T c.2305C>T p.Q769* Nonsense 3/11 - 7
4-106157404-TC-T c.2305del p.Q769Sfs*44 Frameshift 3/11 - 2
4-106157407-C-T c.2308C>T p.Q770* Nonsense 3/11 - 3
4-106157410-AG-CA c.2311_2312delinsCA p.R771Q Missense 3/11 - 1
4-106157411-G-A c.2312G>A p.R771K Missense 3/11 - 1
4-106157413-AG-A c.2314del p.E772Kfs*41 Frameshift 3/11 - 1
4-106157413-GA-G c.2316del p.G773Dfs*40 Frameshift 3/11 - 1
4-106157416-G-A c.2317G>A p.G773R Missense 3/11 - 1
4-106157416-G-T c.2317G>T p.G773* Nonsense 3/11 - 2
4-106157429-GC-G c.2332del p.Q778Rfs*35 Frameshift 3/11 - 1
4-106157431-C-T c.2332C>T p.Q778* Nonsense 3/11 - 3
4-106157435-C-G c.2336C>G p.T779S Missense 3/11 - 1
4-106157434-A-T c.2335A>T p.T779S Missense 3/11 - 1
4-106157443-GGAAGAATGTT-G c.2344_2353del p.E782Ffs*28 Frameshift 3/11 - 1
4-106157443-G-T c.2344G>T p.E782* Nonsense 3/11 - 1
4-106157446-G-T c.2347G>T p.E783* Nonsense 3/11 - 1
4-106157449-T-A c.2350T>A p.C784S Missense 3/11 - 1
4-106157450-G-C c.2351G>C p.C784S Missense 3/11 - 1
4-106157450-G-A c.2351G>A p.C784Y Missense 3/11 - 1
4-106157451-T-A c.2352T>A p.C784* Nonsense 3/11 - 1
4-106157450-GTT-G c.2354_2355del p.F785Sfs*3 Frameshift 3/11 - 1
4-106157456-A-G c.2357A>G p.H786R Missense 3/11 - 1
4-106157461-TG-T c.2362del p.E788Kfs*25 Frameshift 3/11 - 1
4-106157467-TCAGTATTCAAAATCA-T c.2368_2382del p.Q790_S794del InFrameDeletion 3/11 - 1
4-106157467-C-T c.2368C>T p.Q790* Nonsense 3/11 - 4
4-106157472-T-A c.2373T>A p.Y791* Nonsense 3/11 - 1
4-106157471-AT-A c.2374del p.S792Qfs*21 Frameshift 3/11 - 1
4-106157474-TC-T c.2375del p.S792* Frameshift 3/11 - 1
4-106157477-A-G c.2378A>G p.K793R Missense 3/11 - 1
4-106157480-C-A c.2381C>A p.S794* Nonsense 3/11 - 5
4-106157480-C-G c.2381C>G p.S794* Nonsense 3/11 - 5
4-106157481-A-AT c.2382_2383insT p.S795* Nonsense 3/11 - 1
4-106157484-C-A c.2385C>A p.S795R Missense 3/11 - 1
4-106157485-G-C c.2386G>C p.E796Q Missense 3/11 - 2
4-106157485-G-A c.2386G>A p.E796K Missense 3/11 - 1
4-106157491-G-A c.2392G>A p.E798K Missense 3/11 - 1
4-106157497-CAT-C c.2400_2401del p.H800Qfs*15 Frameshift 3/11 - 3
4-106157506-C-T c.2407C>T p.Q803* Nonsense 3/11 - 2
4-106157506-CA-C c.2410del p.M804Wfs*9 Frameshift 3/11 - 1
4-106157510-AT-A c.2411del p.M804Rfs*9 Frameshift 3/11 - 1
4-106157510-TG-T c.2414del p.G805Dfs*8 Frameshift 3/11 - 1
4-106157521-G-T c.2422G>T p.E808* Nonsense 3/11 - 1
4-106157521-GA-G c.2424del p.V809Yfs*4 Frameshift 3/11 - 1
4-106157527-C-T c.2428C>T p.Q810* Nonsense 3/11 - 15
4-106157525-TACAGAATATA-T c.2428_2437del p.Q810Ifs*11 Frameshift 3/11 - 1
4-106157528-A-G c.2429A>G p.Q810R Missense 3/11 - 2
4-106157533-TATAAATCGTA-T c.2434_2443del p.I812Efs*9 Frameshift 3/11 - 1
4-106157539-C-T c.2440C>T p.R814C Missense 3/11 - 7
4-106157540-G-T c.2441G>T p.R814L Missense 3/11 - 1
4-106157542-AGA-TGG c.2443_2445delinsTGG p.R815W Missense 3/11 - 1
4-106157544-A-AT c.2445_2446insT p.N816* Nonsense 3/11 - 1
4-106157543-GAAATTCCCCTTAT-G c.2446_2458del p.N816Vfs*4 Frameshift 3/11 - 2
4-106157546-AT-A c.2449del p.S817Pfs*7 Frameshift 3/11 - 2
4-106157548-T-A c.2449T>A p.S817T Missense 3/11 - 1
4-106157549-TCCCCTTA-T c.2450_2456del p.S817Lfs*5 Frameshift 3/11 - 1
4-106157547-TTCCCC-T c.2450_2454del p.S817Lfs*2 Frameshift 3/11 - 1
4-106157548-TC-T c.2453del p.P818Lfs*6 Frameshift 3/11 - 1
4-106157555-TATAG-T c.2456_2459del p.Y819Ffs*4 Frameshift 3/11 - 1
4-106157558-G-T c.2459G>T p.S820I Missense 3/11 - 1
4-106157560-C-T c.2461C>T p.Q821* Nonsense 3/11 - 1
4-106157563-A-C c.2464A>C p.T822P Missense 3/11 - 1
4-106157573-TC-T c.2474del p.S825* Frameshift 3/11 - 4
4-106157573-C-A c.2474C>A p.S825* Nonsense 3/11 - 2
4-106157573-C-G c.2474C>G p.S825* Nonsense 3/11 - 2
4-106157578-G-A c.2479G>A p.A827T Missense 3/11 - 1
4-106157582-G-A c.2483G>A p.C828Y Missense 3/11 - 1
4-106157585-A-C c.2486A>C p.K829T Missense 3/11 - 1
4-106157590-C-T c.2491C>T p.Q831* Nonsense 3/11 - 2
4-106157591-A-T c.2492A>T p.Q831L Missense 3/11 - 1
4-106157592-G-T c.2493G>T p.Q831H Missense 3/11 - 1
4-106157592-G-C c.2493G>C p.Q831H Missense 3/11 - 1
4-106157592-GGTTTCTT-G c.2497_2503del p.S833Qfs*6 Frameshift 3/11 - 1
4-106157603-C-A c.2504C>A p.S835* Nonsense 3/11 - 2
4-106157603-C-G c.2504C>G p.S835* Nonsense 3/11 - 3
4-106157602-TCAAA-T c.2507_2510del p.N836Ifs*4 Frameshift 3/11 - 1
4-106157607-C-A c.2508C>A p.N836K Missense 3/11 - 1
4-106157610-T-TA c.2512dup p.T838Nfs*8 Frameshift 3/11 - 1
4-106157615-A-C c.2516A>C p.H839P Missense 3/11 - 1
4-106157610-TAC-T c.2516_2517del p.H839Pfs*6 Frameshift 3/11 - 1
4-106157616-C-A c.2517C>A p.H839Q Missense 3/11 - 1
4-106157617-CT-TA c.2518_2519delinsTA p.L840* Nonsense 3/11 - 1
4-106157620-G-GT c.2524dup p.S842Ffs*4 Frameshift 3/11 - 1
4-106157624-C-A c.2525C>A p.S842* Nonsense 3/11 - 2
4-106157624-C-G c.2525C>G p.S842* Nonsense 3/11 - 2
4-106157624-TC-T c.2525del p.S842* Frameshift 3/11 - 2
4-106157626-G-C c.2527G>C p.E843Q Missense 3/11 - 1
4-106157627-GA-G c.2528del p.E843Gfs*30 Frameshift 3/11 - 1
4-106157628-GAATA-G c.2532_2535del p.N844Kfs*28 Frameshift 3/11 - 1
4-106157635-G-T c.2536G>T p.E846* Nonsense 3/11 - 1
4-106157638-C-T c.2539C>T p.Q847* Nonsense 3/11 - 2
4-106157644-TA-T c.2545del p.T849Hfs*24 Frameshift 3/11 - 1
4-106157647-AC-A c.2548del p.H850Ifs*23 Frameshift 3/11 - 1
4-106157648-A-G c.2549A>G p.H850R Missense 3/11 - 1
4-106157649-TC-T c.2552del p.P851Lfs*22 Frameshift 3/11 - 2
4-106157653-G-T c.2554G>T p.E852* Nonsense 3/11 - 1
4-106157656-CT-C c.2562del p.F854Lfs*19 Frameshift 3/11 - 1
4-106157663-C-T c.2564C>T p.A855V Missense 3/11 - 1
4-106157668-A-C c.2569A>C p.N857H Missense 3/11 - 1
4-106157666-G-GA c.2570dup p.N857Kfs*15 Frameshift 3/11 - 1
4-106157673-G-T c.2574G>T p.K858N Missense 3/11 - 1
4-106157684-T-TG c.2586dup p.H863Afs*9 Frameshift 3/11 - 3
4-106157686-C-T c.2587C>T p.H863Y Missense 3/11 - 1
4-106157688-T-TG c.2589_2590insG p.H864Afs*8 Frameshift 3/11 - 1
4-106157689-TCACATGCA-T c.2590_2597del p.H864Ifs*5 Frameshift 3/11 - 1
4-106157692-A-C c.2593A>C p.M865L Missense 3/11 - 1
4-106157692-A-T c.2593A>T p.M865L Missense 3/11 - 1
4-106157694-G-A c.2595G>A p.M865I Missense 3/11 - 1
4-106157695-C-T c.2596C>T p.Q866* Nonsense 3/11 - 1
4-106157698-T-C c.2599T>C p.Y867H Missense 3/11 - 24
4-106157700-T-A c.2601T>A p.Y867* Nonsense 3/11 - 3
4-106157700-T-G c.2601T>G p.Y867* Nonsense 3/11 - 3
4-106157701-T-C c.2602T>C p.F868L Missense 3/11 - 9
4-106157703-T-A c.2604T>A p.F868L Missense 3/11 - 9
4-106157703-T-G c.2604T>G p.F868L Missense 3/11 - 16
4-106157705-CA-C c.2609del p.N870Ifs*3 Frameshift 3/11 - 1
4-106157711-A-AT c.2613dup p.V872Cfs*29 Frameshift 3/11 - 1
4-106157714-T-TG c.2616dup p.I873Dfs*28 Frameshift 3/11 - 1
4-106157725-C-T c.2626C>T p.Q876* Nonsense 3/11 - 3
4-106157728-G-A c.2629G>A p.D877N Missense 3/11 - 1
4-106157736-T-TA c.2637_2638insA p.H880Tfs*21 Frameshift 3/11 - 1
4-106157737-TC-T c.2638del p.H880Tfs*41 Frameshift 3/11 - 1
4-106157740-CA-C c.2641del p.R881Gfs*40 Frameshift 3/11 - 2
4-106157740-A-T c.2641A>T p.R881W Missense 3/11 - 1
4-106157740-AG-GC c.2641_2642delinsGC p.R881A Missense 3/11 - 1
4-106157744-G-A c.2645G>A p.C882Y Missense 3/11 - 5
4-106157752-G-A c.2653G>A p.E885K Missense 3/11 - 1
4-106157755-C-T c.2656C>T p.Q886* Nonsense 3/11 - 2
4-106157756-CA-C c.2657del p.Q886Rfs*35 Frameshift 3/11 - 1
4-106157761-C-T c.2662C>T p.Q888* Nonsense 3/11 - 2
4-106157764-A-T c.2665A>T p.K889* Nonsense 3/11 - 1
4-106157768-C-A c.2669C>A p.S890* Nonsense 3/11 - 1
4-106157768-C-G c.2669C>G p.S890* Nonsense 3/11 - 1
4-106157770-C-T c.2671C>T p.Q891* Nonsense 3/11 - 2
4-106157773-C-T c.2674C>T p.Q892* Nonsense 3/11 - 2
4-106157782-G-A c.2683G>A p.V895I Missense 3/11 - 1
4-106157785-C-T c.2686C>T p.L896= Synonymous 3/11 - 1
4-106157788-C-T c.2689C>T p.Q897* Nonsense 3/11 - 1
4-106157789-A-G c.2690A>G p.Q897R Missense 3/11 - 1
4-106157791-G-T c.2692G>T p.G898* Nonsense 3/11 - 4
4-106157795-A-AT c.2697dup p.K900* Nonsense 3/11 - 1
4-106157794-TATAA-T c.2697_2700del p.Y899* Frameshift 3/11 - 1
4-106157796-T-A c.2697T>A p.Y899* Nonsense 3/11 - 2
4-106157796-T-G c.2697T>G p.Y899* Nonsense 3/11 - 1
4-106157798-A-G c.2699A>G p.K900R Missense 3/11 - 1
4-106157809-C-T c.2710C>T p.Q904* Nonsense 3/11 - 2
4-106157807-AC-A c.2710del p.Q904Kfs*17 Frameshift 3/11 - 1
4-106157814-T-TA c.2716dup p.M906Nfs*18 Frameshift 3/11 - 2
4-106157821-G-T c.2722G>T p.G908C Missense 3/11 - 1
4-106157824-C-T c.2725C>T p.Q909* Nonsense 3/11 - 4
4-106157824-C-CA c.2727dup p.Q910Tfs*14 Frameshift 3/11 - 1
4-106157827-C-T c.2728C>T p.Q910* Nonsense 3/11 - 2
4-106157827-CA-C c.2730del p.A911Lfs*10 Frameshift 3/11 - 1
4-106157830-G-GC c.2732dup p.A912Cfs*12 Frameshift 3/11 - 1
4-106157835-CG-C c.2736del p.Q913Nfs*8 Frameshift 3/11 - 1
4-106157836-C-T c.2737C>T p.Q913* Nonsense 3/11 - 4
4-106157837-A-G c.2738A>G p.Q913R Missense 3/11 - 1
4-106157843-C-T c.2744C>T p.A915V Missense 3/11 - 1
4-106157845-C-T c.2746C>T p.Q916* Nonsense 3/11 - 24
4-106157846-CA-C c.2747del p.Q916Rfs*5 Frameshift 3/11 - 1
4-106157848-C-T c.2749C>T p.Q917* Nonsense 3/11 - 2
4-106157848-CA-C c.2752del p.R918Gfs*3 Frameshift 3/11 - 1
4-106157853-G-GT c.2755dup p.Y919Lfs*5 Frameshift 3/11 - 1
4-106157854-T-C c.2755T>C p.Y919H Missense 3/11 - 1
4-106157854-TACTTG-T c.2757_2761del p.L920Tfs*2 Frameshift 3/11 - 1
4-106157856-C-A c.2757C>A p.Y919* Nonsense 3/11 - 1
4-106157856-C-G c.2757C>G p.Y919* Nonsense 3/11 - 1
4-106157859-G-C c.2760G>C p.L920F Missense 3/11 - 1
4-106157860-A-G c.2761A>G p.I921V Missense 3/11 - 1
4-106157870-A-G c.2771A>G p.H924R Missense 3/11 - 4
4-106157872-G-A c.2773G>A p.A925T Missense 3/11 - 1
4-106157875-A-G c.2776A>G p.N926D Missense 3/11 - 1
4-106157876-A-G c.2777A>G p.N926S Missense 3/11 - 1
4-106157878-GT-G c.2784del p.P929Lfs*24 Frameshift 3/11 - 1
4-106157884-C-T c.2785C>T p.P929S Missense 3/11 - 1
4-106157883-TC-T c.2786del p.P929Lfs*24 Frameshift 3/11 - 2
4-106157890-C-T c.2791C>T p.P931S Missense 3/11 - 2
4-106157891-CCT-C c.2792_2793del p.P931Rfs*40 Frameshift 3/11 - 1
4-106157896-C-T c.2797C>T p.Q933* Nonsense 3/11 - 1
4-106157899-G-T c.2800G>T p.G934* Nonsense 3/11 - 2
4-106157908-C-T c.2809C>T p.H937Y Missense 3/11 - 1
4-106157914-C-T c.2815C>T p.Q939* Nonsense 3/11 - 5
4-106157914-C-CA c.2816dup p.T940Dfs*32 Frameshift 3/11 - 1
4-106157916-G-GCTGTGACTTCCTCCCTGGTCAGACA c.2817_2818insCTGTGACTTCCTCCCTGGTCAGACA p.T940Lfs*2 Frameshift 3/11 - 1
4-106157918-C-A c.2819C>A p.T940N Missense 3/11 - 1
4-106157919-C-T c.2820C>T p.T940= Synonymous 3/11 - 1
4-106157920-C-T c.2821C>T p.P941S Missense 3/11 - 1
4-106157924-C-T c.2825C>T p.P942L Missense 3/11 - 1
4-106157925-CCCAGAAGGACACTCAAAAGCAT-C c.2826_2847del p.Q943Lfs*3 Frameshift 3/11 - 1
4-106157926-C-T c.2827C>T p.Q943* Nonsense 3/11 - 5
4-106157922-TC-T c.2827del p.Q943Rfs*10 Frameshift 3/11 - 1
4-106157930-AG-A c.2833del p.D945Tfs*8 Frameshift 3/11 - 1
4-106157937-CT-C c.2838del p.Q947Kfs*6 Frameshift 3/11 - 1
4-106157938-C-T c.2839C>T p.Q947* Nonsense 3/11 - 2
4-106157939-A-C c.2840A>C p.Q947P Missense 3/11 - 1
4-106157943-AG-A c.2844del p.K948Nfs*5 Frameshift 3/11 - 1
4-106157945-A-G c.2846A>G p.H949R Missense 3/11 - 1
4-106157946-AT-A c.2847del p.H949Qfs*4 Frameshift 3/11 - 1
4-106157946-ATGCTG-A c.2847_2851del p.A950Sfs*20 Frameshift 3/11 - 1
4-106157953-TC-T c.2854del p.L952* Frameshift 3/11 - 1
4-106157957-G-A c.2858G>A p.R953K Missense 3/11 - 1
4-106157958-G-GT c.2860dup p.W954Lfs*18 Frameshift 3/11 - 1
4-106157960-G-A c.2861G>A p.W954* Nonsense 3/11 - 4
4-106157961-G-A c.2862G>A p.W954* Nonsense 3/11 - 5
4-106157961-G-T c.2862G>T p.W954C Missense 3/11 - 1
4-106157961-G-C c.2862G>C p.W954C Missense 3/11 - 1
4-106157965-C-A c.2866C>A p.L956I Missense 3/11 - 1
4-106157969-T-A c.2870T>A p.L957* Nonsense 3/11 - 1
4-106157969-T-G c.2870T>G p.L957* Nonsense 3/11 - 1
4-106157969-T-TA c.2871dup p.Q958Tfs*14 Frameshift 3/11 - 3
4-106157971-C-T c.2872C>T p.Q958* Nonsense 3/11 - 4
4-106157972-A-G c.2873A>G p.Q958R Missense 3/11 - 1
4-106157972-A-C c.2873A>C p.Q958P Missense 3/11 - 1
4-106157974-A-T c.2875A>T p.K959* Nonsense 3/11 - 1
4-106157977-C-T c.2878C>T p.Q960* Nonsense 3/11 - 1
4-106157980-G-T c.2881G>T p.E961* Nonsense 3/11 - 1
4-106157983-C-T c.2884C>T p.Q962* Nonsense 3/11 - 2
4-106157985-G-T c.2886G>T p.Q962H Missense 3/11 - 1
4-106157986-C-T c.2887C>T p.Q963* Nonsense 3/11 - 4
4-106157985-GCAGCAAACACAGCAACC-G c.2888_2904del p.Q963Pfs*3 Frameshift 3/11 - 1
4-106157989-C-T c.2890C>T p.Q964* Nonsense 3/11 - 2
4-106157989-C-CA c.2893dup p.T965Nfs*7 Frameshift 3/11 - 1
4-106157991-AACAC-A c.2894_2897del p.T965Sfs*41 Frameshift 3/11 - 1
4-106157993-C-CA c.2895dup p.Q966Tfs*6 Frameshift 3/11 - 1
4-106157991-AAC-A c.2896_2897del p.Q966Afs*5 Frameshift 3/11 - 1
4-106157995-C-T c.2896C>T p.Q966* Nonsense 3/11 - 1
4-106157995-CA-GT c.2896_2897delinsGT p.Q966V Missense 3/11 - 1
4-106157998-C-T c.2899C>T p.Q967* Nonsense 3/11 - 4
4-106158003-C-A c.2904C>A p.P968= Synonymous 3/11 - 1
4-106158004-C-T c.2905C>T p.Q969* Nonsense 3/11 - 2
4-106158008-AC-A c.2909del p.T970Mfs*37 Frameshift 3/11 - 1
4-106158014-CT-C c.2917del p.C973Afs*34 Frameshift 3/11 - 2
4-106158016-T-TG c.2918dup p.C973Wfs*3 Frameshift 3/11 - 1
4-106158017-G-T c.2918G>T p.C973F Missense 3/11 - 1
4-106158018-C-A c.2919C>A p.C973* Nonsense 3/11 - 1
4-106158023-G-C c.2924G>C p.S975T Missense 3/11 - 1
4-106158025-C-T c.2926C>T p.Q976* Nonsense 3/11 - 1
4-106158026-CA-C c.2927del p.Q976Rfs*31 Frameshift 3/11 - 1
4-106158034-A-G c.2935A>G p.R979G Missense 3/11 - 1
4-106158034-A-AG c.2937dup p.P980Afs*3 Frameshift 3/11 - 1
4-106158034-AG-A c.2937del p.R979Sfs*28 Frameshift 3/11 - 1
4-106158041-T-C c.2942T>C p.I981T Missense 3/11 - 1
4-106158045-G-T c.2946G>T p.K982N Missense 3/11 - 1
4-106158047-TG-T c.2950del p.E984Nfs*23 Frameshift 3/11 - 1
4-106158053-C-CT c.2955dup p.G986Wfs*23 Frameshift 3/11 - 1
4-106158059-G-A c.2960G>A p.C987Y Missense 3/11 - 1
4-106158061-A-AAGCC c.2964_2967dup p.H990Afs*20 Frameshift 3/11 - 1
4-106158063-G-C c.2964G>C p.K988N Missense 3/11 - 1
4-106158063-G-T c.2964G>T p.K988N Missense 3/11 - 1
4-106158063-G-GC c.2966dup p.H990Tfs*19 Frameshift 3/11 - 1
4-106158063-GC-G c.2966del p.P989Hfs*18 Frameshift 3/11 - 1
4-106158082-A-C c.2983A>C p.T995P Missense 3/11 - 1
4-106158094-G-T c.2995G>T p.E999* Nonsense 3/11 - 1
4-106158094-GA-G c.2999del p.N1000Tfs*7 Frameshift 3/11 - 1
4-106158101-A-G c.3002A>G p.K1001R Missense 3/11 - 1
4-106158107-G-A c.3008G>A p.W1003* Nonsense 3/11 - 2
4-106158108-G-A c.3009G>A p.W1003* Nonsense 3/11 - 2
4-106158108-GA-G c.3014del p.K1005Rfs*2 Frameshift 3/11 - 1
4-106158115-G-GT c.3017dup p.T1007Nfs*2 Frameshift 3/11 - 2
4-106158124-C-T c.3025C>T p.Q1009* Nonsense 3/11 - 2
4-106158127-G-T c.3028G>T p.E1010* Nonsense 3/11 - 1
4-106158134-C-T c.3035C>T p.P1012L Missense 3/11 - 3
4-106158147-GT-G c.3048del p.C1016Wfs*17 Frameshift 3/11 - 1
4-106158153-ATGTGCAGCAAAAG-A c.3054_3066del p.N1018Kfs*11 Frameshift 3/11 - 1
4-106158154-G-A c.3055G>A p.V1019M Missense 3/11 - 1
4-106158157-C-T c.3058C>T p.Q1020* Nonsense 3/11 - 5
4-106158157-GC-G c.3058del p.Q1020Sfs*13 Frameshift 3/11 - 1
4-106158157-CA-GC c.3058_3059delinsGC p.Q1020A Missense 3/11 - 1
4-106158159-AG-A c.3060del p.Q1020Hfs*13 Frameshift 3/11 - 1
4-106158160-C-CA c.3065dup p.S1023Efs*4 Frameshift 3/11 - 2
4-106158168-GCATCATTGAGACC-G c.3069_3081del p.S1023Rfs*6 Frameshift 3/11 - 1
4-106158168-C-CCA c.3069_3070insCA p.I1024Qfs*10 Frameshift 3/11 - 1
4-106158172-CATT-C c.3073_3075del p.I1025del InFrameDeletion 3/11 - 1
4-106158187-C-T c.3088C>T p.Q1030* Nonsense 3/11 - 6
4-106158189-G-A c.3090G>A p.Q1030= Synonymous 3/11 - 2
4-106158189-AG-A c.3090del p.Q1030Hfs*3 Frameshift 3/11 - 1
4-106158199-C-T c.3100C>T p.Q1034* Nonsense 3/11 - 1
4-106158201-G-GT c.3105dup p.H1036Sfs*7 Frameshift 3/11 - 1
4-106158205-C-T c.3106C>T p.H1036Y Missense 3/11 - 1
4-106158206-CACGCCAAG-C c.3107_3114del p.H1036Lfs*4 Frameshift 3/11 - 1
4-106158208-CG-C c.3109del p.A1037Pfs*18 Frameshift 3/11 - 1
4-106158211-CAAGTCGTTAT-C c.3112_3121del p.K1038Lfs*14 Frameshift 3/11 - 1
4-106158215-C-T c.3116C>T p.S1039L Missense 3/11 - 8
4-106158215-C-A c.3116C>A p.S1039* Nonsense 3/11 - 2
4-106158216-G-A c.3117G>A p.S1039= Synonymous 3/11 - 2
4-106158218-T-A c.3119T>A p.L1040* Nonsense 3/11 - 1
4-106158218-T-G c.3119T>G p.L1040* Nonsense 3/11 - 1
4-106158218-T-TA c.3120dup p.F1041Ifs*2 Frameshift 3/11 - 1
4-106158229-A-T c.3130A>T p.K1044* Nonsense 3/11 - 1
4-106158235-CT-C c.3138del p.T1047Lfs*8 Frameshift 3/11 - 1
4-106158238-AC-CT c.3139_3140delinsCT p.T1047L Missense 3/11 - 1
4-106158248-C-G c.3149C>G p.S1050* Nonsense 3/11 - 2
4-106158248-C-A c.3149C>A p.S1050* Nonsense 3/11 - 2
4-106158248-C-CTT c.3149_3150insTT p.Q1051Yfs*5 Frameshift 3/11 - 1
4-106158250-C-T c.3151C>T p.Q1051* Nonsense 3/11 - 3
4-106158256-C-T c.3157C>T p.Q1053* Nonsense 3/11 - 4
4-106158260-TA-T c.3165del p.V1056Lfs*10 Frameshift 3/11 - 1
4-106158275-C-G c.3176C>G p.S1059* Nonsense 3/11 - 5
4-106158275-C-A c.3176C>A p.S1059* Nonsense 3/11 - 1
4-106158276-A-AAG c.3177_3178insAG p.G1060Rfs*7 Frameshift 3/11 - 1
4-106158276-A-AG c.3180dup p.P1061Afs*7 Frameshift 3/11 - 1
4-106158279-GC-G c.3182del p.P1061Qfs*5 Frameshift 3/11 - 1
4-106158289-GTTTTGAC-G c.3192_3198del p.L1065Dfs*15 Frameshift 3/11 - 2
4-106158293-T-A c.3194T>A p.L1065* Nonsense 3/11 - 1
4-106158292-TTGAC-T c.3195_3198del p.T1066Dfs*15 Frameshift 3/11 - 1
4-106158294-G-T c.3195G>T p.L1065F Missense 3/11 - 1
4-106158294-G-C c.3195G>C p.L1065F Missense 3/11 - 1
4-106158301-C-T c.3202C>T p.Q1068* Nonsense 3/11 - 3
4-106158305-CC-TG c.3206_3207delinsTG p.T1069M Missense 3/11 - 1
4-106158304-AC-A c.3207del p.T1070Lfs*12 Frameshift 3/11 - 1
4-106158316-G-T c.3217G>T p.E1073* Nonsense 3/11 - 1
4-106158317-A-T c.3218A>T p.E1073V Missense 3/11 - 1
4-106158321-TTGATA-T c.3222_3226del p.D1075Pfs*27 Frameshift 3/11 - 1
4-106158331-A-C c.3232A>C p.T1078P Missense 3/11 - 1
4-106158341-T-A c.3242T>A p.L1081* Nonsense 3/11 - 1
4-106158341-T-G c.3242T>G p.L1081* Nonsense 3/11 - 1
4-106158341-T-TA c.3243dup p.E1082Rfs*22 Frameshift 3/11 - 1
4-106158346-C-T c.3247C>T p.Q1083* Nonsense 3/11 - 2
4-106158349-C-T c.3250C>T p.Q1084* Nonsense 3/11 - 3
4-106158350-A-C c.3251A>C p.Q1084P Missense 3/11 - 12
4-106158355-A-G c.3256A>G p.T1086A Missense 3/11 - 1
4-106158357-TTC-T c.3260_3261del p.S1087Ffs*16 Frameshift 3/11 - 1
4-106158362-C-T c.3263C>T p.S1088L Missense 3/11 - 1
4-106158362-C-A c.3263C>A p.S1088* Nonsense 3/11 - 1
4-106158367-A-G c.3268A>G p.K1090E Missense 3/11 - 1
4-106158364-GA-G c.3269del p.K1090Rfs*16 Frameshift 3/11 - 2
4-106158372-CA-C c.3273del p.P1092Qfs*14 Frameshift 3/11 - 1
4-106158380-A-T c.3281A>T p.K1094I Missense 3/11 - 1
4-106158383-G-C c.3284G>C p.R1095T Missense 3/11 - 1
4-106158386-C-A c.3287C>A p.T1096K Missense 3/11 - 1
4-106158392-CTTCTGTTCTCAATAATTTTA-C c.3295_3314del p.S1099Rfs*24 Frameshift 3/11 - 1
4-106158398-GTT-G c.3299_3300del p.V1100Afs*3 Frameshift 3/11 - 1
4-106158400-C-CGT c.3301_3302insGT p.L1101Rfs*6 Frameshift 3/11 - 1
4-106158400-C-G c.3301C>G p.L1101V Missense 3/11 - 1
4-106158398-TTC-T c.3302_3303del p.L1101Qfs*2 Frameshift 3/11 - 1
4-106158402-C-CTG c.3303_3304insTG p.N1102* Nonsense 3/11 - 1
4-106158402-TCAATA-T c.3303_3307del p.N1102Ffs*26 Frameshift 3/11 - 1
4-106158404-A-AT c.3306dup p.N1103* Nonsense 3/11 - 1
4-106158405-TA-T c.3308del p.N1103Ifs*3 Frameshift 3/11 - 1
4-106158407-AATTT-A c.3308_3311del p.N1103Ifs*2 Frameshift 3/11 - 1
4-106158409-T-TTA c.3311_3312insAT p.F1104Lfs*3 Frameshift 3/11 - 1
4-106158407-AT-A c.3312del p.F1104Lfs*2 Frameshift 3/11 - 4
4-106158410-TTA-T c.3314_3315del p.I1105Rfs*24 Frameshift 3/11 - 2
4-106158413-T-G c.3314T>G p.I1105R Missense 3/11 - 1
4-106158413-T-TA c.3315dup p.E1106Rfs*24 Frameshift 3/11 - 1
4-106158413-TAG-T c.3317_3318del p.E1106Vfs*23 Frameshift 3/11 - 1
4-106158416-A-G c.3317A>G p.E1106G Missense 3/11 - 1
4-106158417-AGT-A c.3318_3319del p.E1106Dfs*23 Frameshift 3/11 - 1
4-106158418-T-C c.3319T>C p.S1107P Missense 3/11 - 1
4-106158419-C-A c.3320C>A p.S1107* Nonsense 3/11 - 1
4-106158419-C-G c.3320C>G p.S1107* Nonsense 3/11 - 1
4-106158424-TC-CT c.3325_3326delinsCT p.S1109L Missense 3/11 - 1
4-106158424-T-C c.3325T>C p.S1109P Missense 3/11 - 1
4-106158425-C-A c.3326C>A p.S1109Y Missense 3/11 - 1
4-106158429-AT-A c.3332del p.L1111Yfs*2 Frameshift 3/11 - 1
4-106158431-T-A c.3332T>A p.L1111* Nonsense 3/11 - 2
4-106158431-T-G c.3332T>G p.L1111* Nonsense 3/11 - 1
4-106158432-TA-T c.3333del p.L1111Ffs*2 Frameshift 3/11 - 1
4-106158435-TA-T c.3336del p.D1113Ifs*4 Frameshift 3/11 - 1
4-106158438-T-TA c.3340dup p.T1114Nfs*16 Frameshift 3/11 - 1
4-106158441-TC-T c.3344del p.P1115Lfs*2 Frameshift 3/11 - 3
4-106158446-AT-A c.3347del p.I1116Kfs*21 Frameshift 3/11 - 1
4-106158449-A-G c.3350A>G p.K1117R Missense 3/11 - 2
4-106158446-T-TA c.3353dup p.N1118Kfs*12 Frameshift 3/11 - 4
4-106158454-T-A c.3355T>A p.L1119I Missense 3/11 - 1
4-106158455-T-A c.3356T>A p.L1119* Nonsense 3/11 - 1
4-106158455-T-G c.3356T>G p.L1119* Nonsense 3/11 - 1
4-106158456-A-T c.3357A>T p.L1119F Missense 3/11 - 1
4-106158456-A-C c.3357A>C p.L1119F Missense 3/11 - 1
4-106158458-T-A c.3359T>A p.L1120* Nonsense 3/11 - 1
4-106158465-AC-A c.3368del p.P1123Lfs*14 Frameshift 3/11 - 1
4-106158478-C-T c.3379C>T p.Q1127* Nonsense 3/11 - 1
4-106158483-T-A c.3384T>A p.Y1128* Nonsense 3/11 - 2
4-106158483-T-G c.3384T>G p.Y1128* Nonsense 3/11 - 2
4-106158483-ATGATTTCCCATCTTGCAGATGTGT-A c.3384_3407del p.Y1128_V1136delins* MultiAAMissense 3/11 - 1
4-106158484-G-GT c.3385_3386insT p.D1129Vfs*13 Frameshift 3/11 - 1
4-106158484-G-T c.3385G>T p.D1129Y Missense 3/11 - 1
4-106158484-G-A c.3385G>A p.D1129N Missense 3/11 - 1
4-106158490-CCA-AAC c.3391_3393delinsAAC p.P1131N Missense 3/11 - 1
4-106158497-G-A c.3398G>A p.C1133Y Missense 3/11 - 1
4-106158497-TG-T c.3398del p.C1133Sfs*4 Frameshift 3/11 - 1
4-106158502-T-C c.3403T>C p.C1135R Missense 3/11 - 1
4-106158502-T-TA c.3403_3404insA p.C1135* Nonsense 3/11 - 1
4-106158503-G-A c.3404G>A p.C1135Y Missense 3/11 - 6
4-106158504-T-G c.3405T>G p.C1135W Missense 3/11 - 2
4-106158505-G-GT c.3407dup p.E1137Rfs*5 SpliceDonorInsertion 3/11 - 1
4-106158508-G-GT c.3409_3409+1insT p.E1137Vfs*5 SpliceDonorInsertion - - 1
4-106158508-G-A c.3409G>A p.E1137K Missense 3/11 - 1
4-106158509-G-A c.3409+1G>A - IntronicSNV - 3/10 5
4-106158509-G-T c.3409+1G>T - IntronicSNV - 3/10 1
4-106158509-G-C c.3409+1G>C - IntronicSNV - 3/10 1
4-106158510-T-G c.3409+2T>G - IntronicSNV - 3/10 1
4-106158508-GGTAA-G c.3409+3_3409+6del - IntronicDeletion - 3/10 1
4-106158523-T-A c.3409+15T>A - IntronicSNV - 3/10 1
4-106158523-T-C c.3409+15T>C - IntronicSNV - 3/10 1
4-106158526-A-G c.3409+18A>G - IntronicSNV - 3/10 1
4-106158550-G-T c.3409+42G>T - IntronicSNV - 3/10 2
4-106158578-G-A c.3409+70G>A - IntronicSNV - 3/10 2
4-106158588-C-CT c.3409+87dup - IntronicInsertion - 3/10 1
4-106160365-A-C c.3409+1857A>C - IntronicSNV - 3/10 2
4-106162072-G-A c.3410-424G>A - IntronicSNV - 3/10 1
4-106162072-G-T c.3410-424G>T - IntronicSNV - 3/10 1
4-106162498-C-T c.3412C>T p.Q1138* Nonsense 4/11 - 1
4-106162498-CA-C c.3415del p.I1139Lfs*13 Frameshift 4/11 - 3
4-106162505-T-C c.3419T>C p.I1140T Missense 4/11 - 1
4-106162510-A-T c.3424A>T p.K1142* Nonsense 4/11 - 1
4-106162513-G-C c.3427G>C p.D1143H Missense 4/11 - 1
4-106162510-AAAGATG-A c.3428_3433del p.D1143_E1144del InFrameDeletion 4/11 - 1
4-106162517-A-C c.3431A>C p.E1144A Missense 4/11 - 1
4-106162518-A-C c.3432A>C p.E1144D Missense 4/11 - 1
4-106162518-A-T c.3432A>T p.E1144D Missense 4/11 - 1
4-106162523-CTT-C c.3441_3442del p.F1147Lfs*9 Frameshift 4/11 - 1
4-106162523-CT-C c.3442del p.Y1148Ifs*4 Frameshift 4/11 - 1
4-106162529-A-G c.3443A>G p.Y1148C Missense 4/11 - 2
4-106162534-C-G c.3448C>G p.H1150D Missense 4/11 - 2
4-106162538-T-C c.3452T>C p.L1151P Missense 4/11 - 1
4-106162538-T-G c.3452T>G p.L1151R Missense 4/11 - 1
4-106162540-G-T c.3454G>T p.G1152* Nonsense 4/11 - 1
4-106162541-G-A c.3455G>A p.G1152E Missense 4/11 - 1
4-106162542-A-AT c.3456_3457insT p.A1153Cfs*4 Frameshift 4/11 - 1
4-106162544-C-T c.3458C>T p.A1153V Missense 4/11 - 3
4-106162544-C-CG c.3458_3459insG p.G1154Rfs*3 Frameshift 4/11 - 1
4-106162546-G-A c.3460G>A p.G1154S Missense 4/11 - 1
4-106162547-G-A c.3461G>A p.G1154D Missense 4/11 - 1
4-106162547-G-T c.3461G>T p.G1154V Missense 4/11 - 1
4-106162555-G-A c.3469G>A p.V1157M Missense 4/11 - 1
4-106162556-T-G c.3470T>G p.V1157G Missense 4/11 - 1
4-106162557-G-T c.3471G>T p.V1157= Synonymous 4/11 - 1
4-106162564-A-T c.3478A>T p.I1160F Missense 4/11 - 1
4-106162565-T-A c.3479T>A p.I1160N Missense 4/11 - 1
4-106162566-TTAGAG-T c.3480_3484del p.R1161Nfs*11 Frameshift 4/11 - 1
4-106162568-G-C c.3482G>C p.R1161T Missense 4/11 - 2
4-106162569-A-C c.3483A>C p.R1161S Missense 4/11 - 2
4-106162569-A-T c.3483A>T p.R1161S Missense 4/11 - 2
4-106162573-A-C c.3487A>C p.I1163L Missense 4/11 - 1
4-106162577-T-G c.3491T>G p.M1164R Missense 4/11 - 1
4-106162577-T-A c.3491T>A p.M1164K Missense 4/11 - 1
4-106162578-G-C c.3492G>C p.M1164I Missense 4/11 - 4
4-106162578-G-A c.3492G>A p.M1164I Missense 4/11 - 4
4-106162578-G-T c.3492G>T p.M1164I Missense 4/11 - 4
4-106162580-A-T c.3494A>T p.E1165V Missense 4/11 - 1
4-106162582-G-T c.3496G>T p.E1166* Nonsense 4/11 - 1
4-106162585-A-G c.3499A>G p.R1167G Missense 4/11 - 1
4-106162586-G-A c.3500G>A p.R1167K Missense 4/11 - 6
4-106162586-G-T c.3500G>T p.R1167M Missense 4/11 - 3
4-106162586-G-C c.3500G>C p.R1167T Missense 4/11 - 2
4-106162587-G-T c.3500+1G>T - IntronicSNV - 4/10 1
4-106162893-G-A c.3500+307G>A - IntronicSNV - 4/10 2
4-106163095-CTT-C c.3500+523_3500+524del - IntronicDeletion - 4/10 1
4-106163975-T-A c.3501-16T>A - IntronicSNV - 4/10 1
4-106163991-G-C c.3501G>C p.R1167S Missense 5/11 - 1
4-106163991-G-T c.3501G>T p.R1167S Missense 5/11 - 1
4-106163992-TT-GC c.3502_3503delinsGC p.F1168A Missense 5/11 - 1
4-106163998-C-T c.3508C>T p.Q1170* Nonsense 5/11 - 3
4-106164003-G-C c.3513G>C p.K1171N Missense 5/11 - 1
4-106164003-G-T c.3513G>T p.K1171N Missense 5/11 - 1
4-106164004-G-GT c.3514_3515insT p.G1172Vfs*2 Frameshift 5/11 - 1
4-106164005-G-T c.3515G>T p.G1172V Missense 5/11 - 1
4-106164005-G-A c.3515G>A p.G1172D Missense 5/11 - 1
4-106164006-T-G c.3516T>G p.G1172= Synonymous 5/11 - 1
4-106164006-T-A c.3516T>A p.G1172= Synonymous 5/11 - 1
4-106164006-T-C c.3516T>C p.G1172= Synonymous 5/11 - 1
4-106164013-A-G c.3523A>G p.I1175V Missense 5/11 - 1
4-106164016-A-G c.3526A>G p.R1176G Missense 5/11 - 2
4-106164022-TG-T c.3532del p.E1178Kfs*48 Frameshift 5/11 - 3
4-106164023-AAAGAGTCATCT-A c.3535_3545del p.R1179Yfs*3 Frameshift 5/11 - 1
4-106164022-G-GA c.3535dup p.R1179Kfs*7 Frameshift 5/11 - 1
4-106164027-A-G c.3537A>G p.R1179= Synonymous 5/11 - 1
4-106164029-T-A c.3539T>A p.V1180D Missense 5/11 - 2
4-106164032-T-C c.3542T>C p.I1181T Missense 5/11 - 1
4-106164031-ATC-A c.3543_3544del p.T1183Wfs*2 Frameshift 5/11 - 1
4-106164039-TG-T c.3551del p.G1184Vfs*42 Frameshift 5/11 - 1
4-106164050-G-GAA c.3560_3561insAA p.K1188Tfs*39 Frameshift 5/11 - 1
4-106164052-A-T c.3562A>T p.K1188* Nonsense 5/11 - 1
4-106164051-CA-C c.3565del p.S1189Vfs*37 Frameshift 5/11 - 1
4-106164057-T-G c.3567T>G p.S1189R Missense 5/11 - 1
4-106164057-T-A c.3567T>A p.S1189R Missense 5/11 - 1
4-106164055-A-C c.3565A>C p.S1189R Missense 5/11 - 2
4-106164059-C-A c.3569C>A p.S1190Y Missense 5/11 - 1
4-106164061-C-T c.3571C>T p.Q1191* Nonsense 5/11 - 3
4-106164064-G-T c.3574G>T p.G1192* Nonsense 5/11 - 1
4-106164065-G-T c.3575G>T p.G1192V Missense 5/11 - 2
4-106164067-T-TA c.3577_3578insA p.C1193* Nonsense 5/11 - 1
4-106164067-T-C c.3577T>C p.C1193R Missense 5/11 - 1
4-106164068-G-A c.3578G>A p.C1193Y Missense 5/11 - 3
4-106164068-G-T c.3578G>T p.C1193F Missense 5/11 - 1
4-106164069-T-G c.3579T>G p.C1193W Missense 5/11 - 4
4-106164070-C-T c.3580C>T p.P1194S Missense 5/11 - 1
4-106164071-C-G c.3581C>G p.P1194R Missense 5/11 - 4
4-106164071-C-T c.3581C>T p.P1194L Missense 5/11 - 1
4-106164071-C-A c.3581C>A p.P1194H Missense 5/11 - 1
4-106164073-A-G c.3583A>G p.I1195V Missense 5/11 - 2
4-106164077-C-A c.3587C>A p.A1196D Missense 5/11 - 1
4-106164079-A-G c.3589A>G p.K1197E Missense 5/11 - 2
4-106164079-TAAGTGG-T c.3589_3594del p.K1197_W1198del SpliceDonorDeletion 5/11 - 1
4-106164080-A-T c.3590A>T p.K1197M Missense 5/11 - 1
4-106164083-G-A c.3593G>A p.W1198* Nonsense 5/11 - 2
4-106164084-G-A c.3594G>A p.W1198* Nonsense 5/11 - 3
4-106164083-G-T c.3593G>T p.W1198L Missense 5/11 - 1
4-106164085-G-GT c.3594+2dup - IntronicInsertion - 5/10 1
4-106164086-T-C c.3594+2T>C - IntronicSNV - 5/10 2
4-106164089-G-A c.3594+5G>A - IntronicSNV - 5/10 1
4-106164089-G-T c.3594+5G>T - IntronicSNV - 5/10 1
4-106164723-G-A c.3595-4G>A - IntronicSNV - 5/10 2
4-106164727-GTG-ATC c.3595_3597delinsATC p.V1199I Missense 6/11 - 1
4-106164728-GT-G c.3596del p.V1199Gfs*27 Frameshift 6/11 - 1
4-106164733-C-T c.3601C>T p.R1201C Missense 6/11 - 1
4-106164734-G-T c.3602G>T p.R1201L Missense 6/11 - 1
4-106164734-G-A c.3602G>A p.R1201H Missense 6/11 - 2
4-106164737-G-C c.3605G>C p.R1202T Missense 6/11 - 1
4-106164741-C-G c.3609C>G p.S1203R Missense 6/11 - 3
4-106164741-C-A c.3609C>A p.S1203R Missense 6/11 - 1
4-106164739-A-C c.3607A>C p.S1203R Missense 6/11 - 1
4-106164741-GC-G c.3609del p.S1203Rfs*23 Frameshift 6/11 - 1
4-106164742-A-T c.3610A>T p.S1204C Missense 6/11 - 2
4-106164744-C-G c.3612C>G p.S1204R Missense 6/11 - 1
4-106164744-C-A c.3612C>A p.S1204R Missense 6/11 - 1
4-106164742-A-C c.3610A>C p.S1204R Missense 6/11 - 1
4-106164745-AG-GC c.3613_3614delinsGC p.S1205A Missense 6/11 - 1
4-106164748-G-A c.3616G>A p.E1206K Missense 6/11 - 1
4-106164751-G-A c.3619G>A p.E1207K Missense 6/11 - 1
4-106164751-G-C c.3619G>C p.E1207Q Missense 6/11 - 1
4-106164747-TGAAGA-T c.3620_3624del p.E1207Afs*14 Frameshift 6/11 - 1
4-106164752-A-G c.3620A>G p.E1207G Missense 6/11 - 2
4-106164754-A-T c.3622A>T p.K1208* Nonsense 6/11 - 1
4-106164757-CT-TA c.3625_3626delinsTA p.L1209* Nonsense 6/11 - 1
4-106164758-T-C c.3626T>C p.L1209P Missense 6/11 - 2
4-106164758-T-A c.3626T>A p.L1209Q Missense 6/11 - 1
4-106164760-CT-TC c.3628_3629delinsTC p.L1210S Missense 6/11 - 1
4-106164761-T-C c.3629T>C p.L1210P Missense 6/11 - 4
4-106164761-T-G c.3629T>G p.L1210R Missense 6/11 - 2
4-106164763-T-A c.3631T>A p.C1211S Missense 6/11 - 1
4-106164764-G-C c.3632G>C p.C1211S Missense 6/11 - 1
4-106164764-G-A c.3632G>A p.C1211Y Missense 6/11 - 2
4-106164765-T-G c.3633T>G p.C1211W Missense 6/11 - 1
4-106164767-T-A c.3635T>A p.L1212* Nonsense 6/11 - 2
4-106164767-T-C c.3635T>C p.L1212S Missense 6/11 - 1
4-106164769-G-A c.3637G>A p.V1213M Missense 6/11 - 3
4-106164770-T-G c.3638T>G p.V1213G Missense 6/11 - 1
4-106164772-C-T c.3640C>T p.R1214W Missense 6/11 - 9
4-106164773-G-T c.3641G>T p.R1214L Missense 6/11 - 1
4-106164773-G-C c.3641G>C p.R1214P Missense 6/11 - 1
4-106164773-G-A c.3641G>A p.R1214Q Missense 6/11 - 4
4-106164775-G-T c.3643G>T p.E1215* Nonsense 6/11 - 4
4-106164778-C-T c.3646C>T p.R1216* Nonsense 6/11 - 22
4-106164778-C-G c.3646C>G p.R1216G Missense 6/11 - 1
4-106164779-G-A c.3647G>A p.R1216Q Missense 6/11 - 1
4-106164782-C-G c.3650C>G p.A1217G Missense 6/11 - 1
4-106164784-G-C c.3652G>C p.G1218R Missense 6/11 - 1
4-106164787-C-T c.3655C>T p.H1219Y Missense 6/11 - 1
4-106164787-C-G c.3655C>G p.H1219D Missense 6/11 - 1
4-106164788-A-G c.3656A>G p.H1219R Missense 6/11 - 2
4-106164790-CA-C c.3658del p.T1220Pfs*6 Frameshift 6/11 - 1
4-106164793-T-A c.3661T>A p.C1221S Missense 6/11 - 1
4-106164794-G-C c.3662G>C p.C1221S Missense 6/11 - 3
4-106164793-T-C c.3661T>C p.C1221R Missense 6/11 - 1
4-106164793-CT-C c.3661del p.C1221Vfs*5 Frameshift 6/11 - 1
4-106164794-G-A c.3662G>A p.C1221Y Missense 6/11 - 6
4-106164794-G-T c.3662G>T p.C1221F Missense 6/11 - 3
4-106164795-GT-G c.3663del p.C1221Wfs*5 Frameshift 6/11 - 2
4-106164796-G-A c.3664G>A p.E1222K Missense 6/11 - 1
4-106164797-A-G c.3665A>G p.E1222G Missense 6/11 - 1
4-106164802-G-C c.3670G>C p.A1224P Missense 6/11 - 1
4-106164803-C-G c.3671C>G p.A1224G Missense 6/11 - 1
4-106164806-T-G c.3674T>G p.V1225G Missense 6/11 - 1
4-106164808-A-AG c.3676_3677insG p.I1226Sfs*17 Frameshift 6/11 - 1
4-106164814-A-T c.3682A>T p.I1228F Missense 6/11 - 1
4-106164813-G-GACAC c.3682_3683insCACA p.I1228Tfs*16 Frameshift 6/11 - 1
4-106164817-C-A c.3685C>A p.L1229I Missense 6/11 - 1
4-106164818-T-C c.3686T>C p.L1229P Missense 6/11 - 1
4-106164818-T-G c.3686T>G p.L1229R Missense 6/11 - 1
4-106164818-T-A c.3686T>A p.L1229H Missense 6/11 - 1
4-106164819-C-T c.3687C>T p.L1229= Synonymous 6/11 - 1
4-106164824-T-G c.3692T>G p.L1231R Missense 6/11 - 1
4-106164824-T-C c.3692T>C p.L1231P Missense 6/11 - 3
4-106164827-GT-G c.3695del p.V1232Gfs*21 Frameshift 6/11 - 1
4-106164829-T-G c.3697T>G p.W1233G Missense 6/11 - 1
4-106164829-T-A c.3697T>A p.W1233R Missense 6/11 - 1
4-106164829-T-C c.3697T>C p.W1233R Missense 6/11 - 1
4-106164830-G-A c.3698G>A p.W1233* Nonsense 6/11 - 5
4-106164831-G-A c.3699G>A p.W1233* Nonsense 6/11 - 3
4-106164832-G-T c.3700G>T p.E1234* Nonsense 6/11 - 1
4-106164835-G-A c.3703G>A p.G1235R Missense 6/11 - 2
4-106164835-G-C c.3703G>C p.G1235R Missense 6/11 - 1
4-106164835-G-T c.3703G>T p.G1235* Nonsense 6/11 - 1
4-106164836-G-A c.3704G>A p.G1235E Missense 6/11 - 1
4-106164839-T-A c.3707T>A p.I1236N Missense 6/11 - 1
4-106164840-C-G c.3708C>G p.I1236M Missense 6/11 - 1
4-106164840-TCCCGCTGTC-T c.3708_3716del p.P1237_S1239del InFrameDeletion 6/11 - 1
4-106164841-C-T c.3709C>T p.P1237S Missense 6/11 - 1
4-106164842-C-T c.3710C>T p.P1237L Missense 6/11 - 1
4-106164839-TC-T c.3710del p.P1237Rfs*16 Frameshift 6/11 - 1
4-106164857-A-G c.3725A>G p.D1242G Missense 6/11 - 1
4-106164857-A-T c.3725A>T p.D1242V Missense 6/11 - 4
4-106164857-GACAAA-G c.3725_3729del p.D1242Afs*24 Frameshift 6/11 - 1
4-106164860-A-G c.3728A>G p.K1243R Missense 6/11 - 3
4-106164863-T-C c.3731T>C p.L1244P Missense 6/11 - 2
4-106164861-ACT-A c.3732_3733del p.Y1245Lfs*22 Frameshift 6/11 - 4
4-106164865-CTACTCGG-C c.3733_3739del p.Y1245Sfs*6 Frameshift 6/11 - 1
4-106164865-CTA-C c.3733_3734del p.Y1245Lfs*22 Frameshift 6/11 - 1
4-106164866-A-G c.3734A>G p.Y1245C Missense 6/11 - 5
4-106164866-A-C c.3734A>C p.Y1245S Missense 6/11 - 2
4-106164867-C-A c.3735C>A p.Y1245* Nonsense 6/11 - 1
4-106164869-C-A c.3737C>A p.S1246* Nonsense 6/11 - 2
4-106164871-G-T c.3739G>T p.E1247* Nonsense 6/11 - 1
4-106164870-GGAGCTTACCGA-G c.3741_3751del p.E1247Dfs*17 Frameshift 6/11 - 1
4-106164875-T-C c.3743T>C p.L1248P Missense 6/11 - 4
4-106164875-T-G c.3743T>G p.L1248R Missense 6/11 - 1
4-106164874-CT-C c.3744del p.T1249Pfs*4 Frameshift 6/11 - 1
4-106164878-ACC-A c.3746_3747del p.T1249Rfs*18 Frameshift 6/11 - 1
4-106164880-G-T c.3748G>T p.E1250* Nonsense 6/11 - 1
4-106164884-C-T c.3752C>T p.T1251M Missense 6/11 - 1
4-106164884-ACGCTG-A c.3752_3756del p.T1251Kfs*15 Frameshift 6/11 - 1
4-106164887-T-C c.3755T>C p.L1252P Missense 6/11 - 1
4-106164891-GGA-G c.3759_3760del p.K1254Ifs*13 Frameshift 6/11 - 1
4-106164892-A-T c.3760A>T p.K1254* Nonsense 6/11 - 1
4-106164894-A-AT c.3763dup p.Y1255Lfs*13 Frameshift 6/11 - 1
4-106164893-AAT-A c.3763_3764del p.Y1255Rfs*12 Frameshift 6/11 - 1
4-106164895-ATACGG-A c.3763_3767del p.Y1255Hfs*11 Frameshift 6/11 - 1
4-106164895-T-TA c.3764dup p.Y1255* Nonsense 6/11 - 4
4-106164896-AC-GA c.3764_3765delinsGA p.Y1255* Missense 6/11 - 1
4-106164897-C-A c.3765C>A p.Y1255* Nonsense 6/11 - 8
4-106164897-AC-A c.3765del p.Y1255* Frameshift 6/11 - 1
4-106164897-C-G c.3765C>G p.Y1255* Nonsense 6/11 - 6
4-106164898-G-C c.3766G>C p.G1256R Missense 6/11 - 2
4-106164899-G-A c.3767G>A p.G1256D Missense 6/11 - 3
4-106164904-C-CA c.3772_3773insA p.L1258Hfs*10 Frameshift 6/11 - 1
4-106164907-A-G c.3775A>G p.T1259A Missense 6/11 - 1
4-106164908-CC-AG c.3776_3777delinsAG p.T1259K Missense 6/11 - 1
4-106164909-C-CA c.3779dup p.N1260Kfs*8 Frameshift 6/11 - 1
4-106164913-C-T c.3781C>T p.R1261C Missense 6/11 - 12
4-106164913-C-G c.3781C>G p.R1261G Missense 6/11 - 3
4-106164913-C-A c.3781C>A p.R1261S Missense 6/11 - 4
4-106164914-G-A c.3782G>A p.R1261H Missense 6/11 - 15
4-106164914-G-C c.3782G>C p.R1261P Missense 6/11 - 1
4-106164916-C-T c.3784C>T p.R1262W Missense 6/11 - 3
4-106164916-CG-GC c.3784_3785delinsGC p.R1262A Missense 6/11 - 1
4-106164917-G-C c.3785G>C p.R1262P Missense 6/11 - 2
4-106164919-T-G c.3787T>G p.C1263G Missense 6/11 - 1
4-106164919-T-A c.3787T>A p.C1263S Missense 6/11 - 1
4-106164920-G-C c.3788G>C p.C1263S Missense 6/11 - 1
4-106164920-G-A c.3788G>A p.C1263Y Missense 6/11 - 5
4-106164922-G-C c.3790G>C p.A1264P Missense 6/11 - 1
4-106164923-C-T c.3791C>T p.A1264V Missense 6/11 - 1
4-106164929-A-G c.3797A>G p.N1266S Missense 6/11 - 2
4-106164931-G-A c.3799G>A p.E1267K Missense 6/11 - 2
4-106164934-AGAGT-A c.3802_3803+2del - SpliceDonorDeletion 6/11 6/10 1
4-106164936-G-A c.3803+1G>A - IntronicSNV - 6/10 2
4-106164937-T-G c.3803+2T>G - IntronicSNV - 6/10 1
4-106164937-T-C c.3803+2T>C - IntronicSNV - 6/10 1
4-106164980-G-A c.3803+45G>A - IntronicSNV - 6/10 2
4-106165743-G-C c.3803+808G>C - IntronicSNV - 6/10 1
4-106165743-G-T c.3803+808G>T - IntronicSNV - 6/10 1
4-106170514-C-T c.3803+5579C>T - IntronicSNV - 6/10 1
4-106173199-A-C c.3804-7577A>C - IntronicSNV - 6/10 2
4-106178902-A-G c.3804-1874A>G - IntronicSNV - 6/10 1
4-106178902-A-T c.3804-1874A>T - IntronicSNV - 6/10 1
4-106180264-T-A c.3804-512T>A - IntronicSNV - 6/10 2
4-106180264-T-C c.3804-512T>C - IntronicSNV - 6/10 2
4-106180774-AG-A c.3804del p.R1269Efs*94 Frameshift 7/11 - 1
4-106180775-GGAGAACTTGCGCCT-G c.3805_3818del p.R1269Sfs*26 SpliceAcceptorDeletion 7/11 - 1
4-106180780-A-C c.3808A>C p.T1270P Missense 7/11 - 1
4-106180780-A-G c.3808A>G p.T1270A Missense 7/11 - 1
4-106180781-C-T c.3809C>T p.T1270I Missense 7/11 - 1
4-106180783-T-TA c.3811_3812insA p.C1271* Nonsense 7/11 - 1
4-106180781-C-CT c.3811dup p.C1271Lfs*29 Frameshift 7/11 - 1
4-106180783-T-TG c.3812dup p.C1271Wfs*29 Frameshift 7/11 - 8
4-106180784-TGCGCCTGTC-T c.3812_3820del p.C1271_Q1274delins* MultiAAMissense 7/11 - 1
4-106180784-G-A c.3812G>A p.C1271Y Missense 7/11 - 1
4-106180784-G-C c.3812G>C p.C1271S Missense 7/11 - 1
4-106180785-C-T c.3813C>T p.C1271= Synonymous 7/11 - 1
4-106180785-C-A c.3813C>A p.C1271* Nonsense 7/11 - 3
4-106180785-GC-G c.3813del p.C1271Wfs*92 Frameshift 7/11 - 2
4-106180786-G-C c.3814G>C p.A1272P Missense 7/11 - 1
4-106180786-GCCTGT-G c.3816_3820del p.C1273Gfs*25 Frameshift 7/11 - 1
4-106180789-T-A c.3817T>A p.C1273S Missense 7/11 - 2
4-106180790-G-C c.3818G>C p.C1273S Missense 7/11 - 3
4-106180789-T-C c.3817T>C p.C1273R Missense 7/11 - 1
4-106180789-T-TA c.3817_3818insA p.C1273* Nonsense 7/11 - 1
4-106180790-G-A c.3818G>A p.C1273Y Missense 7/11 - 2
4-106180790-G-T c.3818G>T p.C1273F Missense 7/11 - 2
4-106180791-T-G c.3819T>G p.C1273W Missense 7/11 - 1
4-106180792-C-G c.3820C>G p.Q1274E Missense 7/11 - 3
4-106180792-C-T c.3820C>T p.Q1274* Nonsense 7/11 - 3
4-106180793-A-T c.3821A>T p.Q1274L Missense 7/11 - 1
4-106180793-A-G c.3821A>G p.Q1274R Missense 7/11 - 2
4-106180794-G-T c.3822G>T p.Q1274H Missense 7/11 - 1
4-106180794-G-C c.3822G>C p.Q1274H Missense 7/11 - 1
4-106180795-G-A c.3823G>A p.G1275R Missense 7/11 - 3
4-106180795-G-C c.3823G>C p.G1275R Missense 7/11 - 1
4-106180796-G-A c.3824G>A p.G1275E Missense 7/11 - 4
4-106180796-G-T c.3824G>T p.G1275V Missense 7/11 - 1
4-106180793-AG-A c.3825del p.L1276Wfs*87 Frameshift 7/11 - 1
4-106180805-C-A c.3833C>A p.P1278Q Missense 7/11 - 1
4-106180807-G-T c.3835G>T p.E1279* Nonsense 7/11 - 1
4-106180811-C-T c.3839C>T p.T1280I Missense 7/11 - 1
4-106180813-CT-C c.3841del p.C1281Vfs*82 Frameshift 7/11 - 1
4-106180815-T-C c.3843T>C p.C1281= Synonymous 7/11 - 1
4-106180816-G-C c.3844G>C p.G1282R Missense 7/11 - 1
4-106180816-G-A c.3844G>A p.G1282S Missense 7/11 - 2
4-106180817-G-A c.3845G>A p.G1282D Missense 7/11 - 1
4-106180815-TG-T c.3845del p.G1282Vfs*81 Frameshift 7/11 - 1
4-106180819-G-C c.3847G>C p.A1283P Missense 7/11 - 1
4-106180822-T-G c.3850T>G p.S1284A Missense 7/11 - 2
4-106180823-C-T c.3851C>T p.S1284F Missense 7/11 - 3
4-106180819-GCCT-G c.3851_3853del p.S1284del InFrameDeletion 7/11 - 1
4-106180824-C-A c.3852C>A p.S1284= Synonymous 7/11 - 1
4-106180826-T-TTA c.3854_3855insTA p.S1286Tfs*78 Frameshift 7/11 - 1
4-106180823-CCTTCT-C c.3855_3859del p.S1286Wfs*12 Frameshift 7/11 - 1
4-106180831-T-C c.3859T>C p.F1287L Missense 7/11 - 2
4-106180833-T-A c.3861T>A p.F1287L Missense 7/11 - 2
4-106180833-T-G c.3861T>G p.F1287L Missense 7/11 - 2
4-106180832-T-C c.3860T>C p.F1287S Missense 7/11 - 3
4-106180829-CT-C c.3861del p.F1287Lfs*76 Frameshift 7/11 - 1
4-106180834-G-T c.3862G>T p.G1288C Missense 7/11 - 1
4-106180834-G-A c.3862G>A p.G1288S Missense 7/11 - 1
4-106180835-G-A c.3863G>A p.G1288D Missense 7/11 - 3
4-106180835-G-T c.3863G>T p.G1288V Missense 7/11 - 1
4-106180837-T-A c.3865T>A p.C1289S Missense 7/11 - 1
4-106180838-G-C c.3866G>C p.C1289S Missense 7/11 - 1
4-106180838-G-A c.3866G>A p.C1289Y Missense 7/11 - 7
4-106180838-G-T c.3866G>T p.C1289F Missense 7/11 - 6
4-106180838-TG-T c.3866del p.C1289Ffs*74 Frameshift 7/11 - 1
4-106180834-GGTT-G c.3866_3868del p.C1289del InFrameDeletion 7/11 - 1
4-106180839-TTCATGGAGCATGTA-C c.3867_3881delinsC p.S1290Lfs*5 Frameshift 7/11 - 1
4-106180839-T-G c.3867T>G p.C1289W Missense 7/11 - 1
4-106180841-C-A c.3869C>A p.S1290* Nonsense 7/11 - 1
4-106180841-C-G c.3869C>G p.S1290* Nonsense 7/11 - 1
4-106180841-C-T c.3869C>T p.S1290L Missense 7/11 - 2
4-106180843-T-A c.3871T>A p.W1291R Missense 7/11 - 5
4-106180843-T-C c.3871T>C p.W1291R Missense 7/11 - 5
4-106180844-G-T c.3872G>T p.W1291L Missense 7/11 - 1
4-106180844-G-A c.3872G>A p.W1291* Nonsense 7/11 - 2
4-106180845-G-A c.3873G>A p.W1291* Nonsense 7/11 - 2
4-106180845-G-T c.3873G>T p.W1291C Missense 7/11 - 1
4-106180845-G-C c.3873G>C p.W1291C Missense 7/11 - 1
4-106180848-C-A c.3876C>A p.S1292R Missense 7/11 - 2
4-106180852-T-G c.3880T>G p.Y1294D Missense 7/11 - 1
4-106180848-CATGTACTACA-C c.3880_3889del p.Y1294Dfs*66 Frameshift 7/11 - 1
4-106180852-T-C c.3880T>C p.Y1294H Missense 7/11 - 2
4-106180853-A-G c.3881A>G p.Y1294C Missense 7/11 - 1
4-106180857-C-A c.3885C>A p.Y1295* Nonsense 7/11 - 1
4-106180857-C-G c.3885C>G p.Y1295* Nonsense 7/11 - 1
4-106180857-AC-A c.3885del p.Y1295* Frameshift 7/11 - 1
4-106180859-A-T c.3887A>T p.N1296I Missense 7/11 - 1
4-106180862-G-A c.3890G>A p.G1297E Missense 7/11 - 1
4-106180862-G-GA c.3891dup p.C1298Mfs*2 Frameshift 7/11 - 1
4-106180861-GGAT-G c.3891_3893del p.C1298del InFrameDeletion 7/11 - 1
4-106180865-G-A c.3893G>A p.C1298Y Missense 7/11 - 10
4-106180865-TG-T c.3893del p.C1298Lfs*65 Frameshift 7/11 - 1
4-106180866-T-G c.3894T>G p.C1298W Missense 7/11 - 1
4-106180866-GT-G c.3894del p.C1298* Frameshift 7/11 - 1
4-106180867-A-G c.3895A>G p.K1299E Missense 7/11 - 7
4-106180868-A-C c.3896A>C p.K1299T Missense 7/11 - 3
4-106180868-A-G c.3896A>G p.K1299R Missense 7/11 - 1
4-106180869-G-C c.3897G>C p.K1299N Missense 7/11 - 6
4-106180869-G-T c.3897G>T p.K1299N Missense 7/11 - 6
4-106180870-T-G c.3898T>G p.F1300V Missense 7/11 - 1
4-106180870-T-A c.3898T>A p.F1300I Missense 7/11 - 2
4-106180871-T-C c.3899T>C p.F1300S Missense 7/11 - 2
4-106180871-T-G c.3899T>G p.F1300C Missense 7/11 - 2
4-106180873-G-A c.3901G>A p.A1301T Missense 7/11 - 1
4-106180874-C-A c.3902C>A p.A1301D Missense 7/11 - 1
4-106180876-A-G c.3904A>G p.R1302G Missense 7/11 - 7
4-106180878-A-C c.3906A>C p.R1302S Missense 7/11 - 1
4-106180878-A-T c.3906A>T p.R1302S Missense 7/11 - 1
4-106180875-CAGA-C c.3906_3908del p.R1302del InFrameDeletion 7/11 - 1
4-106180881-C-G c.3909C>G p.S1303R Missense 7/11 - 2
4-106180881-C-A c.3909C>A p.S1303R Missense 7/11 - 1
4-106180879-A-C c.3907A>C p.S1303R Missense 7/11 - 1
4-106180882-A-G c.3910A>G p.K1304E Missense 7/11 - 1
4-106180885-GA-G c.3913del p.I1305Sfs*58 Frameshift 7/11 - 1
4-106180889-C-T c.3917C>T p.P1306L Missense 7/11 - 1
4-106180886-T-TC c.3917dup p.R1307Kfs*4 Frameshift 7/11 - 1
4-106180890-A-AT c.3918_3919insT p.R1307* Nonsense 7/11 - 1
4-106180891-A-G c.3919A>G p.R1307G Missense 7/11 - 1
4-106180891-AG-A c.3921del p.K1308Sfs*55 Frameshift 7/11 - 1
4-106180899-T-G c.3927T>G p.F1309L Missense 7/11 - 1
4-106180900-A-C c.3928A>C p.K1310Q Missense 7/11 - 1
4-106180904-T-A c.3932T>A p.L1311Q Missense 7/11 - 2
4-106180906-C-G c.3934C>G p.L1312V Missense 7/11 - 1
4-106180908-TG-T c.3940del p.D1314Mfs*49 Frameshift 7/11 - 1
4-106180913-A-G c.3941A>G p.D1314G Missense 7/11 - 1
4-106180919-C-T c.3947C>T p.P1316L Missense 7/11 - 2
4-106180921-A-G c.3949A>G p.K1317E Missense 7/11 - 1
4-106180921-A-T c.3949A>T p.K1317* Nonsense 7/11 - 1
4-106180919-CA-C c.3951del p.E1318Rfs*45 Frameshift 7/11 - 2
4-106180923-A-T c.3951A>T p.K1317N Missense 7/11 - 1
4-106180925-A-T c.3953A>T p.E1318V Missense 7/11 - 1
4-106180925-A-G c.3953A>G p.E1318G Missense 7/11 - 4
4-106180926-G-T c.3954G>T p.E1318D Missense 7/11 - 1
4-106180926-G-C c.3954G>C p.E1318D Missense 7/11 - 1
4-106180927-G-A c.3954+1G>A - IntronicSNV - 7/10 5
4-106180927-G-T c.3954+1G>T - IntronicSNV - 7/10 2
4-106180929-T-G c.3954+3T>G - IntronicSNV - 7/10 1
4-106182917-A-G c.3956A>G p.E1319G Missense 8/11 - 1
4-106182918-A-C c.3957A>C p.E1319D Missense 8/11 - 1
4-106182918-A-T c.3957A>T p.E1319D Missense 8/11 - 1
4-106182916-GA-G c.3957del p.E1320Rfs*43 Frameshift 8/11 - 1
4-106182919-G-T c.3958G>T p.E1320* Nonsense 8/11 - 1
4-106182920-A-T c.3959A>T p.E1320V Missense 8/11 - 1
4-106182920-A-C c.3959A>C p.E1320A Missense 8/11 - 1
4-106182921-G-C c.3960G>C p.E1320D Missense 8/11 - 1
4-106182921-G-T c.3960G>T p.E1320D Missense 8/11 - 1
4-106182922-A-T c.3961A>T p.K1321* Nonsense 8/11 - 1
4-106182925-C-A c.3964C>A p.L1322M Missense 8/11 - 1
4-106182926-T-A c.3965T>A p.L1322Q Missense 8/11 - 4
4-106182926-T-G c.3965T>G p.L1322R Missense 8/11 - 1
4-106182928-G-T c.3967G>T p.E1323* Nonsense 8/11 - 3
4-106182930-G-C c.3969G>C p.E1323D Missense 8/11 - 1
4-106182930-G-T c.3969G>T p.E1323D Missense 8/11 - 1
4-106182931-T-C c.3970T>C p.S1324P Missense 8/11 - 1
4-106182932-C-A c.3971C>A p.S1324Y Missense 8/11 - 1
4-106182934-TCA-T c.3973_3974del p.H1325Ffs*13 Frameshift 8/11 - 1
4-106182934-C-T c.3973C>T p.H1325Y Missense 8/11 - 1
4-106182935-A-C c.3974A>C p.H1325P Missense 8/11 - 1
4-106182935-CA-C c.3974del p.H1325Lfs*38 Frameshift 8/11 - 1
4-106182940-C-T c.3979C>T p.Q1327* Nonsense 8/11 - 1
4-106182946-C-A c.3985C>A p.L1329M Missense 8/11 - 1
4-106182946-C-G c.3985C>G p.L1329V Missense 8/11 - 2
4-106182947-T-C c.3986T>C p.L1329P Missense 8/11 - 1
4-106182947-T-A c.3986T>A p.L1329Q Missense 8/11 - 1
4-106182950-C-A c.3989C>A p.S1330Y Missense 8/11 - 1
4-106182950-C-T c.3989C>T p.S1330F Missense 8/11 - 1
4-106182952-A-C c.3991A>C p.T1331P Missense 8/11 - 1
4-106182953-C-A c.3992C>A p.T1331N Missense 8/11 - 1
4-106182955-C-T c.3994C>T p.L1332F Missense 8/11 - 1
4-106182956-T-C c.3995T>C p.L1332P Missense 8/11 - 2
4-106182955-CT-C c.3996del p.M1333Wfs*30 Frameshift 8/11 - 1
4-106182958-A-AAAG c.3997_3998insAAG p.M1333delinsKV MultiAAMissense 8/11 - 1
4-106182959-T-G c.3998T>G p.M1333R Missense 8/11 - 1
4-106182959-TG-AC c.3998_3999delinsAC p.M1333N Missense 8/11 - 1
4-106182962-C-A c.4001C>A p.A1334E Missense 8/11 - 1
4-106182962-C-CGCA c.4001_4002insGCA p.A1334_P1335insQ InFrameInsertion 8/11 - 1
4-106182965-C-A c.4004C>A p.P1335Q Missense 8/11 - 1
4-106182970-T-A c.4009T>A p.Y1337N Missense 8/11 - 1
4-106182970-T-TA c.4010dup p.Y1337* Nonsense 8/11 - 1
4-106182971-A-T c.4010A>T p.Y1337F Missense 8/11 - 1
4-106182972-T-A c.4011T>A p.Y1337* Nonsense 8/11 - 3
4-106182972-T-G c.4011T>G p.Y1337* Nonsense 8/11 - 3
4-106182972-AT-A c.4011del p.Y1337* Frameshift 8/11 - 1
4-106182973-A-T c.4012A>T p.K1338* Nonsense 8/11 - 1
4-106182976-A-T c.4015A>T p.K1339* Nonsense 8/11 - 1
4-106182977-A-G c.4016A>G p.K1339R Missense 8/11 - 1
4-106182978-A-C c.4017A>C p.K1339N Missense 8/11 - 1
4-106182978-A-T c.4017A>T p.K1339N Missense 8/11 - 1
4-106182979-C-A c.4018C>A p.L1340I Missense 8/11 - 1
4-106182980-T-G c.4019T>G p.L1340R Missense 8/11 - 3
4-106182979-C-CT c.4020dup p.A1341Cfs*3 Frameshift 8/11 - 2
4-106182981-T-TG c.4021dup p.A1341Gfs*3 Frameshift 8/11 - 3
4-106182982-TG-T c.4021del p.A1341Hfs*22 Frameshift 8/11 - 1
4-106182983-C-A c.4022C>A p.A1341E Missense 8/11 - 2
4-106182985-C-A c.4024C>A p.P1342T Missense 8/11 - 1
4-106182986-C-A c.4025C>A p.P1342H Missense 8/11 - 1
4-106182984-AC-A c.4025del p.P1342Lfs*21 Frameshift 8/11 - 1
4-106182988-G-T c.4027G>T p.D1343Y Missense 8/11 - 1
4-106182989-A-T c.4028A>T p.D1343V Missense 8/11 - 1
4-106182991-G-A c.4030G>A p.A1344T Missense 8/11 - 1
4-106182990-T-TG c.4030dup p.A1344Gfs*3 Frameshift 8/11 - 1
4-106182992-C-A c.4031C>A p.A1344E Missense 8/11 - 1
4-106182992-C-T c.4031C>T p.A1344V Missense 8/11 - 1
4-106182994-T-A c.4033T>A p.Y1345N Missense 8/11 - 1
4-106182995-A-G c.4034A>G p.Y1345C Missense 8/11 - 2
4-106182995-A-C c.4034A>C p.Y1345S Missense 8/11 - 1
4-106182996-T-A c.4035T>A p.Y1345* Nonsense 8/11 - 1
4-106182997-A-T c.4036A>T p.N1346Y Missense 8/11 - 1
4-106182996-TA-T c.4037del p.N1346Ifs*17 Frameshift 8/11 - 1
4-106182999-T-G c.4038T>G p.N1346K Missense 8/11 - 1
4-106182999-T-A c.4038T>A p.N1346K Missense 8/11 - 1
4-106183002-T-G c.4041T>G p.N1347K Missense 8/11 - 1
4-106183002-T-A c.4041T>A p.N1347K Missense 8/11 - 1
4-106183003-C-T c.4042C>T p.Q1348* Nonsense 8/11 - 1
4-106183004-A-C c.4043A>C p.Q1348P Missense 8/11 - 1
4-106183004-A-G c.4043A>G p.Q1348R Missense 8/11 - 1
4-106183005-G-T c.4044G>T p.Q1348H Missense 8/11 - 1
4-106183005-G-C c.4044G>C p.Q1348H Missense 8/11 - 1
4-106183005-G-GATTGAATATGAACACAGAGCACCAGAGTGCCGTCTGGGTCTGAAGGAAGGCCGTCCATTCTCA c.4044_4044+1insATTGAATATGAACACAGAGCACCAGAGTGCCGTCTGGGTCTGAAGGAAGGCCGTCCATTCTCA p.I1349_S1369dup SpliceDonorInsertion - - 1
4-106183006-G-A c.4044+1G>A - IntronicSNV - 8/10 1
4-106183006-G-C c.4044+1G>C - IntronicSNV - 8/10 1
4-106183007-T-A c.4044+2T>A - IntronicSNV - 8/10 1
4-106183006-G-GT c.4044+2dup - IntronicInsertion - 8/10 1
4-106184597-A-C c.4044+1592A>C - IntronicSNV - 8/10 1
4-106184597-A-G c.4044+1592A>G - IntronicSNV - 8/10 1
4-106190732-C-A c.4045-35C>A - IntronicSNV - 8/10 1
4-106190767-A-T c.4045A>T p.I1349F Missense 9/11 - 1
4-106190770-G-A c.4048G>A p.E1350K Missense 9/11 - 1
4-106190775-T-A c.4053T>A p.Y1351* Nonsense 9/11 - 2
4-106190775-T-G c.4053T>G p.Y1351* Nonsense 9/11 - 2
4-106190776-G-T c.4054G>T p.E1352* Nonsense 9/11 - 1
4-106190777-A-T c.4055A>T p.E1352V Missense 9/11 - 1
4-106190781-CAG-C c.4062_4063del p.R1354Sfs*46 Frameshift 9/11 - 2
4-106190782-AGAGCACCAGAGTGCCGTCTGGGTCT-A c.4063_4087del p.A1355Rfs*85 Frameshift 9/11 - 1
4-106190786-GC-G c.4064del p.A1355Dfs*8 Frameshift 9/11 - 1
4-106190786-C-T c.4064C>T p.A1355V Missense 9/11 - 1
4-106190791-G-T c.4069G>T p.E1357* Nonsense 9/11 - 1
4-106190791-G-C c.4069G>C p.E1357Q Missense 9/11 - 1
4-106190794-T-C c.4072T>C p.C1358R Missense 9/11 - 1
4-106190794-T-A c.4072T>A p.C1358S Missense 9/11 - 1
4-106190795-G-C c.4073G>C p.C1358S Missense 9/11 - 1
4-106190792-AGT-A c.4072_4073del p.C1358Pfs*42 Frameshift 9/11 - 1
4-106190795-G-A c.4073G>A p.C1358Y Missense 9/11 - 2
4-106190797-C-T c.4075C>T p.R1359C Missense 9/11 - 10
4-106190797-C-A c.4075C>A p.R1359S Missense 9/11 - 3
4-106190797-C-G c.4075C>G p.R1359G Missense 9/11 - 1
4-106190798-G-A c.4076G>A p.R1359H Missense 9/11 - 4
4-106190798-G-C c.4076G>C p.R1359P Missense 9/11 - 2
4-106190798-G-T c.4076G>T p.R1359L Missense 9/11 - 1
4-106190800-C-A c.4078C>A p.L1360M Missense 9/11 - 1
4-106190801-T-A c.4079T>A p.L1360Q Missense 9/11 - 1
4-106190801-T-G c.4079T>G p.L1360R Missense 9/11 - 1
4-106190803-G-A c.4081G>A p.G1361S Missense 9/11 - 3
4-106190803-G-T c.4081G>T p.G1361C Missense 9/11 - 4
4-106190804-G-A c.4082G>A p.G1361D Missense 9/11 - 2
4-106190807-T-C c.4085T>C p.L1362P Missense 9/11 - 1
4-106190808-G-GT c.4086_4087insT p.K1363* Nonsense 9/11 - 1
4-106190809-A-T c.4087A>T p.K1363* Nonsense 9/11 - 1
4-106190812-G-A c.4090G>A p.E1364K Missense 9/11 - 1
4-106190812-G-T c.4090G>T p.E1364* Nonsense 9/11 - 1
4-106190815-G-A c.4093G>A p.G1365S Missense 9/11 - 1
4-106190815-G-C c.4093G>C p.G1365R Missense 9/11 - 1
4-106190816-G-A c.4094G>A p.G1365D Missense 9/11 - 1
4-106190816-G-T c.4094G>T p.G1365V Missense 9/11 - 1
4-106190818-C-A c.4096C>A p.R1366S Missense 9/11 - 3
4-106190818-C-T c.4096C>T p.R1366C Missense 9/11 - 2
4-106190816-G-GC c.4096dup p.R1366Pfs*35 Frameshift 9/11 - 1
4-106190819-G-A c.4097G>A p.R1366H Missense 9/11 - 9
4-106190819-G-C c.4097G>C p.R1366P Missense 9/11 - 1
4-106190819-G-T c.4097G>T p.R1366L Missense 9/11 - 1
4-106190821-C-T c.4099C>T p.P1367S Missense 9/11 - 2
4-106190822-C-A c.4100C>A p.P1367Q Missense 9/11 - 1
4-106190824-T-C c.4102T>C p.F1368L Missense 9/11 - 1
4-106190826-C-A c.4104C>A p.F1368L Missense 9/11 - 1
4-106190826-C-G c.4104C>G p.F1368L Missense 9/11 - 2
4-106190824-T-G c.4102T>G p.F1368V Missense 9/11 - 1
4-106190826-TCTCAGGG-T c.4104_4110del p.F1368Lfs*78 Frameshift 9/11 - 1
4-106190827-T-C c.4105T>C p.S1369P Missense 9/11 - 1
4-106190828-C-G c.4106C>G p.S1369* Nonsense 9/11 - 3
4-106190828-C-A c.4106C>A p.S1369* Nonsense 9/11 - 2
4-106190828-C-T c.4106C>T p.S1369L Missense 9/11 - 1
4-106190830-G-A c.4108G>A p.G1370R Missense 9/11 - 2
4-106190830-G-C c.4108G>C p.G1370R Missense 9/11 - 2
4-106190830-G-T c.4108G>T p.G1370W Missense 9/11 - 1
4-106190831-G-A c.4109G>A p.G1370E Missense 9/11 - 2
4-106190831-G-T c.4109G>T p.G1370V Missense 9/11 - 1
4-106190833-G-T c.4111G>T p.V1371F Missense 9/11 - 1
4-106190829-AG-A c.4111del p.V1371Sfs*77 Frameshift 9/11 - 1
4-106190834-T-A c.4112T>A p.V1371D Missense 9/11 - 1
4-106190833-GTCACTGCA-G c.4113_4120del p.T1372Ffs*26 Frameshift 9/11 - 1
4-106190836-ACT-GAG c.4114_4116delinsGAG p.T1372E Missense 9/11 - 3
4-106190836-AC-GT c.4114_4115inv p.T1372V Missense 9/11 - 1
4-106190836-AC-GA c.4114_4115delinsGA p.T1372D Missense 9/11 - 1
4-106190836-A-G c.4114A>G p.T1372A Missense 9/11 - 1
4-106190836-A-C c.4114A>C p.T1372P Missense 9/11 - 1
4-106190837-C-T c.4115C>T p.T1372I Missense 9/11 - 3
4-106190837-C-A c.4115C>A p.T1372N Missense 9/11 - 1
4-106190837-C-G c.4115C>G p.T1372S Missense 9/11 - 1
4-106190836-A-T c.4114A>T p.T1372S Missense 9/11 - 1
4-106190839-G-C c.4117G>C p.A1373P Missense 9/11 - 2
4-106190842-T-TAAAC c.4120_4121insAAAC p.C1374* Nonsense 9/11 - 1
4-106190843-G-A c.4121G>A p.C1374Y Missense 9/11 - 4
4-106190844-T-G c.4122T>G p.C1374W Missense 9/11 - 1
4-106190848-G-A c.4126G>A p.D1376N Missense 9/11 - 2
4-106190849-A-G c.4127A>G p.D1376G Missense 9/11 - 1
4-106190851-T-G c.4129T>G p.F1377V Missense 9/11 - 2
4-106190851-TT-GC c.4129_4130delinsGC p.F1377A Missense 9/11 - 1
4-106190851-T-C c.4129T>C p.F1377L Missense 9/11 - 1
4-106190850-CT-C c.4130del p.F1377Sfs*71 Frameshift 9/11 - 1
4-106190851-TTC-T c.4131_4132del p.F1377Lfs*23 Frameshift 9/11 - 1
4-106190854-T-C c.4132T>C p.C1378R Missense 9/11 - 1
4-106190855-G-A c.4133G>A p.C1378Y Missense 9/11 - 6
4-106190856-T-G c.4134T>G p.C1378W Missense 9/11 - 1
4-106190858-C-A c.4136C>A p.A1379D Missense 9/11 - 1
4-106190860-C-T c.4138C>T p.H1380Y Missense 9/11 - 15
4-106190860-C-G c.4138C>G p.H1380D Missense 9/11 - 3
4-106190861-A-G c.4139A>G p.H1380R Missense 9/11 - 3
4-106190861-A-T c.4139A>T p.H1380L Missense 9/11 - 2
4-106190861-A-C c.4139A>C p.H1380P Missense 9/11 - 1
4-106190862-T-A c.4140T>A p.H1380Q Missense 9/11 - 5
4-106190862-T-C c.4140T>C p.H1380= Synonymous 9/11 - 6
4-106190863-G-A c.4141G>A p.A1381T Missense 9/11 - 1
4-106190866-C-T c.4144C>T p.H1382Y Missense 9/11 - 8
4-106190866-C-G c.4144C>G p.H1382D Missense 9/11 - 1
4-106190864-CCCA-C c.4144_4146del p.H1382del InFrameDeletion 9/11 - 1
4-106190867-A-G c.4145A>G p.H1382R Missense 9/11 - 5
4-106190867-A-C c.4145A>C p.H1382P Missense 9/11 - 2
4-106190869-A-G c.4147A>G p.R1383G Missense 9/11 - 4
4-106190871-A-C c.4149A>C p.R1383S Missense 9/11 - 1
4-106190871-A-T c.4149A>T p.R1383S Missense 9/11 - 2
4-106190872-G-A c.4150G>A p.D1384N Missense 9/11 - 3
4-106190872-G-C c.4150G>C p.D1384H Missense 9/11 - 4
4-106190873-A-T c.4151A>T p.D1384V Missense 9/11 - 4
4-106190873-A-G c.4151A>G p.D1384G Missense 9/11 - 2
4-106190873-A-C c.4151A>C p.D1384A Missense 9/11 - 3
4-106190875-T-TA c.4153_4154insA p.L1385Yfs*16 Frameshift 9/11 - 1
4-106190876-T-TG c.4155dup p.H1386Afs*15 Frameshift 9/11 - 2
4-106190878-C-T c.4156C>T p.H1386Y Missense 9/11 - 1
4-106190881-AA-GC c.4159_4160delinsGC p.N1387A Missense 9/11 - 2
4-106190882-A-G c.4160A>G p.N1387S Missense 9/11 - 3
4-106190882-A-T c.4160A>T p.N1387I Missense 9/11 - 1
4-106190883-C-G c.4161C>G p.N1387K Missense 9/11 - 1
4-106190883-C-A c.4161C>A p.N1387K Missense 9/11 - 1
4-106190886-TG-T c.4164del p.M1388Ifs*60 Frameshift 9/11 - 1
4-106190886-G-C c.4164G>C p.M1388I Missense 9/11 - 1
4-106190886-G-A c.4164G>A p.M1388I Missense 9/11 - 1
4-106190886-G-T c.4164G>T p.M1388I Missense 9/11 - 1
4-106190887-C-T c.4165C>T p.Q1389* Nonsense 9/11 - 6
4-106190890-A-C c.4168A>C p.N1390H Missense 9/11 - 1
4-106190893-G-T c.4171G>T p.G1391C Missense 9/11 - 1
4-106190893-G-C c.4171G>C p.G1391R Missense 9/11 - 1
4-106190894-G-A c.4172G>A p.G1391D Missense 9/11 - 1
4-106190898-C-G c.4176C>G p.S1392R Missense 9/11 - 1
4-106190898-C-A c.4176C>A p.S1392R Missense 9/11 - 1
4-106190896-A-C c.4174A>C p.S1392R Missense 9/11 - 1
4-106190899-A-T c.4177A>T p.T1393S Missense 9/11 - 1
4-106190900-C-T c.4178C>T p.T1393I Missense 9/11 - 3
4-106190901-CATTG-C c.4179_4182del p.L1394Yfs*53 SpliceDonorDeletion 9/11 - 1
4-106190904-G-T c.4182G>T p.L1394F Missense 9/11 - 1
4-106190904-G-C c.4182G>C p.L1394F Missense 9/11 - 1
4-106190905-G-A c.4182+1G>A - IntronicSNV - 9/10 1
4-106190913-G-A c.4182+9G>A - IntronicSNV - 9/10 2
4-106192563-T-C c.4183-1158T>C - IntronicSNV - 9/10 1
4-106193721-G-A c.4183G>A p.V1395I Missense 10/11 - 1
4-106193722-T-TTG c.4184_4185insTG p.C1396Dfs*53 SpliceAcceptorInsertion 10/11 - 1
4-106193722-T-A c.4184T>A p.V1395E Missense 10/11 - 1
4-106193722-T-G c.4184T>G p.V1395G Missense 10/11 - 1
4-106193722-T-C c.4184T>C p.V1395A Missense 10/11 - 1
4-106193724-T-C c.4186T>C p.C1396R Missense 10/11 - 1
4-106193723-A-AT c.4186dup p.C1396Lfs*5 Frameshift 10/11 - 1
4-106193724-T-TAC c.4186_4187insAC p.C1396Yfs*53 Frameshift 10/11 - 1
4-106193726-C-A c.4188C>A p.C1396* Nonsense 10/11 - 1
4-106193728-C-T c.4190C>T p.T1397I Missense 10/11 - 1
4-106193728-C-A c.4190C>A p.T1397N Missense 10/11 - 1
4-106193730-C-A c.4192C>A p.L1398I Missense 10/11 - 1
4-106193731-T-C c.4193T>C p.L1398P Missense 10/11 - 1
4-106193733-A-C c.4195A>C p.T1399P Missense 10/11 - 1
4-106193737-G-A c.4199G>A p.R1400K Missense 10/11 - 1
4-106193739-G-T c.4201G>T p.E1401* Nonsense 10/11 - 1
4-106193748-C-T c.4210C>T p.R1404* Nonsense 10/11 - 11
4-106193751-G-T c.4213G>T p.E1405* Nonsense 10/11 - 1
4-106193751-G-C c.4213G>C p.E1405Q Missense 10/11 - 1
4-106193760-G-T c.4222G>T p.G1408* Nonsense 10/11 - 2
4-106193760-G-A c.4222G>A p.G1408R Missense 10/11 - 1
4-106193765-AC-A c.4229del p.P1410Lfs*38 Frameshift 10/11 - 1
4-106193769-G-A c.4231G>A p.E1411K Missense 10/11 - 1
4-106193772-G-T c.4234G>T p.D1412Y Missense 10/11 - 2
4-106193775-G-A c.4237G>A p.E1413K Missense 10/11 - 1
4-106193778-C-T c.4240C>T p.Q1414* Nonsense 10/11 - 2
4-106193778-C-A c.4240C>A p.Q1414K Missense 10/11 - 2
4-106193778-C-G c.4240C>G p.Q1414E Missense 10/11 - 1
4-106193779-CAGCT-C c.4241_4244del p.Q1414Lfs*33 Frameshift 10/11 - 1
4-106193779-A-G c.4241A>G p.Q1414R Missense 10/11 - 1
4-106193780-G-C c.4242G>C p.Q1414H Missense 10/11 - 1
4-106193784-C-G c.4246C>G p.H1416D Missense 10/11 - 1
4-106193784-C-T c.4246C>T p.H1416Y Missense 10/11 - 1
4-106193784-C-A c.4246C>A p.H1416N Missense 10/11 - 1
4-106193787-G-T c.4249G>T p.V1417F Missense 10/11 - 8
4-106193788-TTC-T c.4252_4253del p.L1418Afs*7 Frameshift 10/11 - 1
4-106193790-C-CTT c.4253_4254insTT p.P1419Cfs*30 Frameshift 10/11 - 1
4-106193794-C-G c.4256C>G p.P1419R Missense 10/11 - 3
4-106193792-GC-G c.4256del p.P1419Lfs*29 Frameshift 10/11 - 1
4-106193796-TTTATACA-T c.4258_4264del p.L1420Kfs*26 Frameshift 10/11 - 1
4-106193797-T-A c.4259T>A p.L1420* Nonsense 10/11 - 1
4-106193797-T-G c.4259T>G p.L1420* Nonsense 10/11 - 1
4-106193799-T-C c.4261T>C p.Y1421H Missense 10/11 - 1
4-106193803-AA-GC c.4265_4266delinsGC p.K1422S Missense 10/11 - 1
4-106193801-CAA-C c.4265_4266del p.K1422Sfs*3 Frameshift 10/11 - 1
4-106193801-CA-C c.4266del p.V1423Sfs*25 Frameshift 10/11 - 1
4-106193813-AC-A c.4275del p.D1425Efs*23 Frameshift 10/11 - 1
4-106193815-T-G c.4277T>G p.V1426G Missense 10/11 - 1
4-106193817-G-A c.4279G>A p.D1427N Missense 10/11 - 1
4-106193819-T-G c.4281T>G p.D1427E Missense 10/11 - 1
4-106193819-T-A c.4281T>A p.D1427E Missense 10/11 - 1
4-106193822-GT-G c.4287del p.F1429Lfs*19 Frameshift 10/11 - 1
4-106193824-TTGGGAGTG-T c.4290_4297del p.V1432Sfs*43 Frameshift 10/11 - 1
4-106193834-G-A c.4296G>A p.V1432= Synonymous 10/11 - 1
4-106193835-G-T c.4297G>T p.E1433* Nonsense 10/11 - 1
4-106193834-GGAAGCTCAGGAGGAGAAAAAAC-G c.4298_4319del p.E1433Gfs*8 Frameshift 10/11 - 1
4-106193841-C-T c.4303C>T p.Q1435* Nonsense 10/11 - 4
4-106193849-G-GT c.4311_4312insT p.K1438* Nonsense 10/11 - 1
4-106193849-G-GA c.4317dup p.R1440Tfs*38 Frameshift 10/11 - 8
4-106193849-GA-G c.4317del p.K1439Nfs*9 Frameshift 10/11 - 1
4-106193857-G-A c.4319G>A p.R1440Q Missense 10/11 - 2
4-106193856-CG-C c.4320del p.S1441Vfs*7 Frameshift 10/11 - 1
4-106193860-GTGGTGCCA-G c.4324_4331del p.G1442Sfs*33 Frameshift 10/11 - 1
4-106193865-G-A c.4327G>A p.A1443T Missense 10/11 - 2
4-106193866-C-T c.4328C>T p.A1443V Missense 10/11 - 1
4-106193871-C-T c.4333C>T p.Q1445* Nonsense 10/11 - 4
4-106193877-C-T c.4339C>T p.L1447= Synonymous 10/11 - 1
4-106193889-C-T c.4351C>T p.R1451W Missense 10/11 - 1
4-106193892-C-T c.4354C>T p.R1452* Nonsense 10/11 - 14
4-106193893-G-A c.4355G>A p.R1452Q Missense 10/11 - 2
4-106193893-CG-C c.4355del p.R1452Qfs*6 Frameshift 10/11 - 1
4-106193895-A-T c.4357A>T p.K1453* Nonsense 10/11 - 2
4-106193898-G-A c.4360G>A p.V1454I Missense 10/11 - 1
4-106193899-T-TG c.4361_4362insG p.R1455Qfs*23 Frameshift 10/11 - 1
4-106193912-A-ACT c.4374_4375insCT p.E1459Lfs*12 Frameshift 10/11 - 1
4-106193912-A-AG c.4375dup p.E1459Gfs*19 Frameshift 10/11 - 1
4-106193917-C-CA c.4380dup p.V1461Sfs*17 Frameshift 10/11 - 1
4-106193920-T-TC c.4383dup p.K1462Qfs*16 Frameshift 10/11 - 1
4-106193930-C-A c.4392C>A p.C1464* Nonsense 10/11 - 2
4-106193931-C-T c.4393C>T p.R1465* Nonsense 10/11 - 17
4-106193934-C-T c.4396C>T p.Q1466* Nonsense 10/11 - 1
4-106193941-A-G c.4403A>G p.K1468R Missense 10/11 - 1
4-106193943-C-CA c.4405_4406insA p.L1469Hfs*9 Frameshift 10/11 - 1
4-106193946-GA-G c.4410del p.A1471Pfs*100 Frameshift 10/11 - 1
4-106193951-C-A c.4413C>A p.A1471= Synonymous 10/11 - 1
4-106193951-C-G c.4413C>G p.A1471= Synonymous 10/11 - 1
4-106193951-C-T c.4413C>T p.A1471= Synonymous 10/11 - 1
4-106193952-A-C c.4414A>C p.K1472Q Missense 10/11 - 1
4-106193953-A-G c.4415A>G p.K1472R Missense 10/11 - 1
4-106193955-A-C c.4417A>C p.K1473Q Missense 10/11 - 1
4-106193956-A-G c.4418A>G p.K1473R Missense 10/11 - 1
4-106193967-G-T c.4429G>T p.E1477* Nonsense 10/11 - 1
4-106193970-A-C c.4432A>C p.K1478Q Missense 10/11 - 1
4-106193967-GA-G c.4433del p.K1478Sfs*93 Frameshift 10/11 - 1
4-106193971-A-G c.4433A>G p.K1478R Missense 10/11 - 1
4-106193973-C-G c.4435C>G p.L1479V Missense 10/11 - 1
4-106193977-C-A c.4439C>A p.S1480Y Missense 10/11 - 1
4-106193981-CCCTGGAGAACA-C c.4443_4453del p.E1483Kfs*2 Frameshift 10/11 - 1
4-106193985-G-T c.4447G>T p.E1483* Nonsense 10/11 - 1
4-106193989-A-G c.4451A>G p.N1484S Missense 10/11 - 1
4-106193991-CA-C c.4453del p.S1485Afs*86 Frameshift 10/11 - 1
4-106193993-C-A c.4455C>A p.S1485R Missense 10/11 - 1
4-106193995-C-A c.4457C>A p.S1486* Nonsense 10/11 - 1
4-106193995-C-G c.4457C>G p.S1486* Nonsense 10/11 - 2
4-106193999-TA-T c.4466del p.N1489Mfs*82 Frameshift 10/11 - 1
4-106194006-G-T c.4468G>T p.E1490* Nonsense 10/11 - 2
4-106194009-A-T c.4471A>T p.K1491* Nonsense 10/11 - 1
4-106194010-A-G c.4472A>G p.K1491R Missense 10/11 - 3
4-106194011-G-C c.4473G>C p.K1491N Missense 10/11 - 1
4-106194011-G-T c.4473G>T p.K1491N Missense 10/11 - 1
4-106194012-G-T c.4474G>T p.E1492* Nonsense 10/11 - 1
4-106194012-GA-G c.4478del p.K1493Sfs*78 Frameshift 10/11 - 2
4-106194019-C-A c.4481C>A p.S1494* Nonsense 10/11 - 1
4-106194019-C-G c.4481C>G p.S1494* Nonsense 10/11 - 1
4-106194027-T-C c.4489T>C p.S1497P Missense 10/11 - 1
4-106194030-C-T c.4492C>T p.R1498C Missense 10/11 - 1
4-106194031-G-A c.4493G>A p.R1498H Missense 10/11 - 1
4-106194033-ACA-TGT c.4495_4497inv p.T1499C Missense 10/11 - 1
4-106194034-C-G c.4496C>G p.T1499R Missense 10/11 - 1
4-106194037-A-T c.4499A>T p.K1500I Missense 10/11 - 1
4-106194034-CA-C c.4500del p.K1500Nfs*71 Frameshift 10/11 - 2
4-106194039-C-T c.4501C>T p.Q1501* Nonsense 10/11 - 1
4-106194043-AC-A c.4505del p.T1502Mfs*69 Frameshift 10/11 - 1
4-106194051-G-A c.4513G>A p.A1505T Missense 10/11 - 6
4-106194057-C-T c.4519C>T p.Q1507* Nonsense 10/11 - 2
4-106194060-G-A c.4522G>A p.A1508T Missense 10/11 - 1
4-106194058-AG-A c.4522del p.A1508Lfs*63 Frameshift 10/11 - 2
4-106194061-GCT-G c.4523_4524del p.A1508Efs*69 Frameshift 10/11 - 1
4-106194062-T-TA c.4527dup p.Q1510Tfs*68 Frameshift 10/11 - 1
4-106194066-C-T c.4528C>T p.Q1510* Nonsense 10/11 - 2
4-106194066-C-G c.4528C>G p.Q1510E Missense 10/11 - 1
4-106194070-TG-T c.4534del p.A1512Qfs*59 Frameshift 10/11 - 1
4-106194073-C-G c.4535C>G p.A1512G Missense 10/11 - 1
4-106194074-CA-C c.4536del p.E1513Nfs*58 Frameshift 10/11 - 1
4-106194075-G-T c.4537G>T p.E1513* Nonsense 10/11 - 1
4-106194076-G-A c.4537+1G>A - IntronicSNV - 10/10 2
4-106194077-T-A c.4537+2T>A - IntronicSNV - 10/10 1
4-106196205-A-G c.4538A>G p.E1513G Missense 11/11 - 1
4-106196207-CT-C c.4544del p.L1515Cfs*56 Frameshift 11/11 - 2
4-106196213-C-T c.4546C>T p.R1516* Nonsense 11/11 - 18
4-106196219-T-C c.4552T>C p.S1518P Missense 11/11 - 1
4-106196219-T-G c.4552T>G p.S1518A Missense 11/11 - 1
4-106196220-C-A c.4553C>A p.S1518* Nonsense 11/11 - 2
4-106196220-C-G c.4553C>G p.S1518* Nonsense 11/11 - 2
4-106196220-C-T c.4553C>T p.S1518L Missense 11/11 - 1
4-106196221-AG-A c.4556del p.G1519Dfs*52 Frameshift 11/11 - 1
4-106196226-C-A c.4559C>A p.P1520Q Missense 11/11 - 1
4-106196230-C-CCT c.4563_4564insCT p.M1522Lfs*50 Frameshift 11/11 - 1
4-106196234-C-T c.4567C>T p.Q1523* Nonsense 11/11 - 2
4-106196234-C-CA c.4568dup p.Q1524Afs*54 Frameshift 11/11 - 1
4-106196237-C-T c.4570C>T p.Q1524* Nonsense 11/11 - 1
4-106196243-C-T c.4576C>T p.Q1526* Nonsense 11/11 - 1
4-106196246-C-T c.4579C>T p.Q1527* Nonsense 11/11 - 1
4-106196245-G-GCCC c.4579_4580insCCC p.Q1526_Q1527insP InFrameInsertion 11/11 - 1
4-106196247-CAG-C c.4580_4581del p.Q1527Pfs*50 Frameshift 11/11 - 1
4-106196252-C-T c.4585C>T p.Q1529* Nonsense 11/11 - 3
4-106196249-C-CCCCAGCCGGACTG c.4589_4590insGGACTGCCCAGCC p.L1531Dfs*51 Frameshift 11/11 - 1
4-106196245-GCAGCCCCAGCCTCTACAGAAGCAGCCACCA-G c.4589_4618del p.P1530_Q1539del InFrameDeletion 11/11 - 2
4-106196255-CCTCTACAGAAG-C c.4590_4600del p.L1531Afs*43 Frameshift 11/11 - 1
4-106196258-CTA-ATG c.4591_4593delinsATG p.L1531M Missense 11/11 - 1
4-106196261-C-T c.4594C>T p.Q1532* Nonsense 11/11 - 4
4-106196264-A-T c.4597A>T p.K1533* Nonsense 11/11 - 1
4-106196265-A-G c.4598A>G p.K1533R Missense 11/11 - 1
4-106196266-G-C c.4599G>C p.K1533N Missense 11/11 - 1
4-106196266-G-T c.4599G>T p.K1533N Missense 11/11 - 1
4-106196267-C-T c.4600C>T p.Q1534* Nonsense 11/11 - 1
4-106196269-GC-G c.4604del p.P1535Hfs*36 Frameshift 11/11 - 1
4-106196276-C-T c.4609C>T p.Q1537* Nonsense 11/11 - 4
4-106196279-C-T c.4612C>T p.P1538S Missense 11/11 - 1
4-106196278-G-GC c.4615dup p.Q1539Pfs*39 Frameshift 11/11 - 2
4-106196282-C-T c.4615C>T p.Q1539* Nonsense 11/11 - 1
4-106196285-C-T c.4618C>T p.Q1540* Nonsense 11/11 - 2
4-106196288-C-T c.4621C>T p.Q1541* Nonsense 11/11 - 1
4-106196289-A-G c.4622A>G p.Q1541R Missense 11/11 - 1
4-106196291-C-T c.4624C>T p.Q1542* Nonsense 11/11 - 2
4-106196303-C-T c.4636C>T p.Q1546* Nonsense 11/11 - 3
4-106196305-G-C c.4638G>C p.Q1546H Missense 11/11 - 1
4-106196306-C-T c.4639C>T p.Q1547* Nonsense 11/11 - 1
4-106196309-C-T c.4642C>T p.Q1548* Nonsense 11/11 - 2
4-106196299-CCAG-C c.4643_4645del p.Q1548del InFrameDeletion 11/11 - 1
4-106196317-T-A c.4650T>A p.H1550Q Missense 11/11 - 1
4-106196317-T-G c.4650T>G p.H1550Q Missense 11/11 - 1
4-106196324-C-T c.4657C>T p.Q1553* Nonsense 11/11 - 2
4-106196323-TCAGA-T c.4661_4664del p.T1554Sfs*16 Frameshift 11/11 - 2
4-106196330-G-T c.4663G>T p.E1555* Nonsense 11/11 - 1
4-106196328-CAG-C c.4664_4665del p.E1555Vfs*22 Frameshift 11/11 - 1
4-106196334-C-A c.4667C>A p.S1556Y Missense 11/11 - 1
4-106196338-C-GA c.4671delinsGA p.N1558Kfs*20 Frameshift 11/11 - 1
4-106196345-T-TA c.4679dup p.Y1560* Nonsense 11/11 - 2
4-106196347-T-A c.4680T>A p.Y1560* Nonsense 11/11 - 1
4-106196347-T-G c.4680T>G p.Y1560* Nonsense 11/11 - 1
4-106196348-T-C c.4681T>C p.S1561P Missense 11/11 - 1
4-106196346-A-AT c.4681dup p.S1561Ffs*17 Frameshift 11/11 - 1
4-106196349-C-CTT c.4683_4684insTT p.A1562Lfs*10 Frameshift 11/11 - 1
4-106196351-GCTTCTGGATCCA-G c.4686_4697del p.S1563_T1566del InFrameDeletion 11/11 - 1
4-106196351-GCTTCTGGAT-G c.4686_4694del p.S1563_S1565del InFrameDeletion 11/11 - 1
4-106196355-TC-T c.4688del p.S1563Lfs*8 Frameshift 11/11 - 1
4-106196355-C-T c.4688C>T p.S1563F Missense 11/11 - 1
4-106196365-CCAA-C c.4698_4700del p.N1567del InFrameDeletion 11/11 - 1
4-106196368-T-TC c.4703dup p.Y1569Ifs*9 Frameshift 11/11 - 1
4-106196373-TA-T c.4706del p.Y1569Sfs*2 Frameshift 11/11 - 1
4-106196374-C-A c.4707C>A p.Y1569* Nonsense 11/11 - 1
4-106196374-C-G c.4707C>G p.Y1569* Nonsense 11/11 - 1
4-106196378-A-T c.4711A>T p.R1571* Nonsense 11/11 - 1
4-106196381-C-T c.4714C>T p.R1572W Missense 11/11 - 3
4-106196382-G-A c.4715G>A p.R1572Q Missense 11/11 - 1
4-106196383-G-GT c.4716_4717insT p.P1573Sfs*5 Frameshift 11/11 - 1
4-106196391-C-T c.4724C>T p.P1575L Missense 11/11 - 1
4-106196389-TC-T c.4724del p.P1575Qfs*21 Frameshift 11/11 - 2
4-106196399-TCC-T c.4732_4733del p.P1578Lfs*35 Frameshift 11/11 - 1
4-106196404-T-A c.4737T>A p.Y1579* Nonsense 11/11 - 1
4-106196404-T-G c.4737T>G p.Y1579* Nonsense 11/11 - 1
4-106196405-TCCAAACTC-T c.4738_4745del p.P1580Ffs*31 Frameshift 11/11 - 1
4-106196411-TC-GG c.4744_4745delinsGG p.S1582G Missense 11/11 - 1
4-106196415-C-A c.4748C>A p.S1583* Nonsense 11/11 - 3
4-106196415-C-G c.4748C>G p.S1583* Nonsense 11/11 - 3
4-106196414-TCA-T c.4753_4754del p.T1585Ffs*28 Frameshift 11/11 - 1
4-106196427-A-G c.4760A>G p.D1587G Missense 11/11 - 2
4-106196433-A-G c.4766A>G p.Y1589C Missense 11/11 - 1
4-106196434-T-TG c.4769dup p.S1591Kfs*23 Frameshift 11/11 - 1
4-106196440-C-CA c.4774dup p.T1592Nfs*22 Frameshift 11/11 - 1
4-106196442-C-T c.4775C>T p.T1592I Missense 11/11 - 1
4-106196444-CA-C c.4777del p.S1593Afs*3 Frameshift 11/11 - 1
4-106196443-C-CA c.4777dup p.S1593Kfs*21 Frameshift 11/11 - 1
4-106196445-G-A c.4778G>A p.S1593N Missense 11/11 - 1
4-106196445-GC-G c.4781del p.P1594Lfs*2 Frameshift 11/11 - 1
4-106196456-T-C c.4789T>C p.F1597L Missense 11/11 - 1
4-106196458-C-A c.4791C>A p.F1597L Missense 11/11 - 1
4-106196458-C-G c.4791C>G p.F1597L Missense 11/11 - 1
4-106196455-CT-C c.4790del p.F1597Sfs*13 Frameshift 11/11 - 1
4-106196458-TC-T c.4791del p.Y1598Ifs*12 Frameshift 11/11 - 1
4-106196458-C-CAG c.4791_4792insAG p.Y1598Sfs*13 Frameshift 11/11 - 1
4-106196455-CTTCTA-C c.4792_4796del p.Y1598Hfs*14 Frameshift 11/11 - 1
4-106196459-T-C c.4792T>C p.Y1598H Missense 11/11 - 1
4-106196460-A-T c.4793A>T p.Y1598F Missense 11/11 - 1
4-106196460-TA-T c.4793del p.Y1598Ffs*12 Frameshift 11/11 - 2
4-106196463-C-A c.4796C>A p.S1599Y Missense 11/11 - 1
4-106196467-C-T c.4800C>T p.T1600= Synonymous 11/11 - 1
4-106196465-ACCTCATCT-A c.4800_4807del p.S1602Cfs*9 Frameshift 11/11 - 1
4-106196469-C-A c.4802C>A p.S1601* Nonsense 11/11 - 2
4-106196469-C-G c.4802C>G p.S1601* Nonsense 11/11 - 3
4-106196474-C-T c.4807C>T p.Q1603* Nonsense 11/11 - 2
4-106196481-C-T c.4814C>T p.A1605V Missense 11/11 - 1
4-106196483-G-C c.4816G>C p.G1606R Missense 11/11 - 1
4-106196484-G-C c.4817G>C p.G1606A Missense 11/11 - 2
4-106196484-GGTTCA-G c.4817_4821del p.G1606Vfs*6 Frameshift 11/11 - 1
4-106196482-AG-A c.4817del p.G1606Vfs*4 Frameshift 11/11 - 1
4-106196494-GA-G c.4829del p.N1610Ifs*6 Frameshift 11/11 - 1
4-106196494-G-GA c.4829dup p.N1610Kfs*4 Frameshift 11/11 - 1
4-106196496-ATTCT-A c.4831_4834del p.S1611Lfs*4 Frameshift 11/11 - 1
4-106196499-C-A c.4832C>A p.S1611Y Missense 11/11 - 1
4-106196500-TTCTAA-T c.4836_4840del p.N1613Hfs*46 Frameshift 11/11 - 1
4-106196502-C-CT c.4836dup p.N1613* Nonsense 11/11 - 1
4-106196501-TCTAATCC-T c.4836_4842del p.N1613* Frameshift 11/11 - 1
4-106196510-AT-TA c.4843_4844delinsTA p.M1615* Nonsense 11/11 - 1
4-106196517-C-A c.4850C>A p.P1617H Missense 11/11 - 2
4-106196516-CCTTA-C c.4851_4854del p.Y1618Lfs*4 Frameshift 11/11 - 1
4-106196532-T-A c.4865T>A p.L1622* Nonsense 11/11 - 2
4-106196537-C-T c.4870C>T p.Q1624* Nonsense 11/11 - 7
4-106196543-A-AC c.4879dup p.Q1627Pfs*34 Frameshift 11/11 - 1
4-106196546-C-T c.4879C>T p.Q1627* Nonsense 11/11 - 2
4-106196551-T-G c.4884T>G p.Y1628* Nonsense 11/11 - 1
4-106196552-C-G c.4885C>G p.P1629A Missense 11/11 - 1
4-106196556-C-A c.4889C>A p.S1630* Nonsense 11/11 - 1
4-106196556-C-G c.4889C>G p.S1630* Nonsense 11/11 - 1
4-106196557-CA-C c.4890del p.Y1631Ifs*64 Frameshift 11/11 - 1
4-106196560-T-A c.4893T>A p.Y1631* Nonsense 11/11 - 1
4-106196560-T-G c.4893T>G p.Y1631* Nonsense 11/11 - 1
4-106196561-C-A c.4894C>A p.Q1632K Missense 11/11 - 1
4-106196566-C-A c.4899C>A p.C1633* Nonsense 11/11 - 1
4-106196583-T-TG c.4918dup p.D1640Gfs*21 Frameshift 11/11 - 1
4-106196587-AC-A c.4920del p.D1640Efs*55 Frameshift 11/11 - 1
4-106196592-TG-T c.4925del p.C1642Sfs*53 Frameshift 11/11 - 1
4-106196597-C-T c.4930C>T p.P1644S Missense 11/11 - 1
4-106196594-TC-T c.4931del p.P1644Hfs*51 Frameshift 11/11 - 1
4-106196598-C-T c.4931C>T p.P1644L Missense 11/11 - 2
4-106196599-CA-C c.4932del p.Y1645Ifs*50 Frameshift 11/11 - 1
4-106196597-CCATAT-C c.4932_4936del p.Y1645Gfs*14 Frameshift 11/11 - 1
4-106196599-A-AT c.4933dup p.Y1645Lfs*16 Frameshift 11/11 - 1
4-106196602-T-C c.4935T>C p.Y1645= Synonymous 11/11 - 1
4-106196609-TC-T c.4944del p.Y1649Ifs*46 Frameshift 11/11 - 1
4-106196613-A-C c.4946A>C p.Y1649S Missense 11/11 - 1
4-106196614-T-A c.4947T>A p.Y1649* Nonsense 11/11 - 2
4-106196614-T-G c.4947T>G p.Y1649* Nonsense 11/11 - 1
4-106196616-C-G c.4949C>G p.S1650C Missense 11/11 - 1
4-106196621-C-T c.4954C>T p.Q1652* Nonsense 11/11 - 3
4-106196617-TC-T c.4954del p.Q1652Sfs*43 Frameshift 11/11 - 1
4-106196623-AG-A c.4956del p.Q1652Hfs*43 Frameshift 11/11 - 1
4-106196624-GTCTCA-G c.4957_4961del p.S1653Afs*6 Frameshift 11/11 - 1
4-106196623-GTC-G c.4959_4960del p.Q1654Afs*6 Frameshift 11/11 - 1
4-106196627-C-T c.4960C>T p.Q1654* Nonsense 11/11 - 3
4-106196630-CCGATGGAT-C c.4965_4972del p.M1656Vfs*2 Frameshift 11/11 - 1
4-106196639-C-G c.4972C>G p.L1658V Missense 11/11 - 1
4-106196640-T-C c.4973T>C p.L1658P Missense 11/11 - 1
4-106196641-TG-T c.4974del p.Y1659Ifs*36 Frameshift 11/11 - 1
4-106196642-GT-G c.4975del p.Y1659Ifs*36 Frameshift 11/11 - 1
4-106196644-T-A c.4977T>A p.Y1659* Nonsense 11/11 - 2
4-106196644-T-G c.4977T>G p.Y1659* Nonsense 11/11 - 2
4-106196644-T-C c.4977T>C p.Y1659= Synonymous 11/11 - 1
4-106196645-AG-CA c.4978_4979delinsCA p.R1660Q Missense 11/11 - 1
4-106196645-AG-A c.4980del p.R1660Sfs*35 Frameshift 11/11 - 1
4-106196650-T-A c.4983T>A p.Y1661* Nonsense 11/11 - 1
4-106196650-T-G c.4983T>G p.Y1661* Nonsense 11/11 - 1
4-106196657-C-T c.4990C>T p.Q1664* Nonsense 11/11 - 2
4-106196661-A-G c.4994A>G p.D1665G Missense 11/11 - 1
4-106196661-AC-A c.4997del p.P1666Lfs*29 Frameshift 11/11 - 1
4-106196666-TCTGTCTAA-T c.4999_5006del p.L1667Afs*17 Frameshift 11/11 - 1
4-106196666-C-CT c.5000dup p.S1668Vfs*2 Frameshift 11/11 - 1
4-106196674-AG-A c.5007del p.K1669Nfs*26 Frameshift 11/11 - 1
4-106196675-C-T c.5008C>T p.L1670F Missense 11/11 - 1
4-106196677-CAGTCT-C c.5012_5016del p.S1671Tfs*14 Frameshift 11/11 - 1
4-106196681-C-CT c.5015dup p.P1673Tfs*14 Frameshift 11/11 - 1
4-106196686-CA-C c.5019del p.I1675Sfs*20 Frameshift 11/11 - 1
4-106196686-A-AC c.5022dup p.I1675Hfs*12 Frameshift 11/11 - 1
4-106196693-C-T c.5026C>T p.H1676Y Missense 11/11 - 1
4-106196694-A-T c.5027A>T p.H1676L Missense 11/11 - 1
4-106196695-T-TA c.5029dup p.T1677Nfs*10 Frameshift 11/11 - 1
4-106196702-T-C c.5035T>C p.Y1679H Missense 11/11 - 1
4-106196704-C-A c.5037C>A p.Y1679* Nonsense 11/11 - 3
4-106196704-C-G c.5037C>G p.Y1679* Nonsense 11/11 - 1
4-106196705-C-T c.5038C>T p.Q1680* Nonsense 11/11 - 7
4-106196707-G-C c.5040G>C p.Q1680H Missense 11/11 - 1
4-106196708-GCCAAGGTT-G c.5041_5048del p.P1681Wfs*3 Frameshift 11/11 - 1
4-106196707-GC-G c.5042del p.P1681Qfs*14 Frameshift 11/11 - 1
4-106196726-C-T c.5059C>T p.Q1687* Nonsense 11/11 - 6
4-106196726-C-A c.5059C>A p.Q1687K Missense 11/11 - 1
4-106196726-CAG-C c.5062_5063del p.S1688Ffs*4 Frameshift 11/11 - 1
4-106196730-GT-G c.5067del p.F1689Lfs*6 Frameshift 11/11 - 1
4-106196744-T-A c.5077T>A p.Y1693N Missense 11/11 - 1
4-106196746-C-A c.5079C>A p.Y1693* Nonsense 11/11 - 1
4-106196746-C-G c.5079C>G p.Y1693* Nonsense 11/11 - 1
4-106196754-A-G c.5087A>G p.Y1696C Missense 11/11 - 1
4-106196754-A-T c.5087A>T p.Y1696F Missense 11/11 - 1
4-106196755-T-A c.5088T>A p.Y1696* Nonsense 11/11 - 1
4-106196759-A-C c.5092A>C p.N1698H Missense 11/11 - 1
4-106196762-C-T c.5095C>T p.Q1699* Nonsense 11/11 - 1
4-106196770-G-A c.5103G>A p.M1701I Missense 11/11 - 8
4-106196770-G-C c.5103G>C p.M1701I Missense 11/11 - 2
4-106196770-G-T c.5103G>T p.M1701I Missense 11/11 - 2
4-106196771-C-T c.5104C>T p.Q1702* Nonsense 11/11 - 5
4-106196778-A-G c.5111A>G p.D1704G Missense 11/11 - 1
4-106196777-G-GA c.5111dup p.D1704Efs*9 Frameshift 11/11 - 1
4-106196780-G-T c.5113G>T p.G1705C Missense 11/11 - 1
4-106196786-CAGCAGTT-C c.5119_5125del p.S1707Vfs*10 Frameshift 11/11 - 1
4-106196792-T-C c.5125T>C p.C1709R Missense 11/11 - 1
4-106196790-GT-G c.5125del p.C1709Vfs*10 Frameshift 11/11 - 1
4-106196793-TG-T c.5126del p.C1709Lfs*10 Frameshift 11/11 - 2
4-106196794-T-A c.5127T>A p.C1709* Nonsense 11/11 - 3
4-106196793-G-GT c.5127dup p.T1710Yfs*3 Frameshift 11/11 - 1
4-106196802-AGACC-A c.5135_5138del p.R1712Kfs*6 Frameshift 11/11 - 1
4-106196803-AC-A c.5138del p.P1713Qfs*6 Frameshift 11/11 - 1
4-106196805-CA-C c.5141del p.N1714Mfs*5 Frameshift 11/11 - 1
4-106196816-C-A c.5149C>A p.H1717N Missense 11/11 - 1
4-106196819-G-T c.5152G>T p.V1718L Missense 11/11 - 17
4-106196819-G-C c.5152G>C p.V1718L Missense 11/11 - 4
4-106196822-G-A c.5155G>A p.G1719R Missense 11/11 - 1
4-106196822-G-C c.5155G>C p.G1719R Missense 11/11 - 1
4-106196829-T-G c.5162T>G p.L1721W Missense 11/11 - 24
4-106196829-T-C c.5162T>C p.L1721S Missense 11/11 - 1
4-106196834-C-T c.5167C>T p.P1723S Missense 11/11 - 19
4-106196837-TA-CT c.5170_5171delinsCT p.Y1724L Missense 11/11 - 1
4-106196839-T-A c.5172T>A p.Y1724* Nonsense 11/11 - 1
4-106196839-T-G c.5172T>G p.Y1724* Nonsense 11/11 - 1
4-106196845-CT-C c.5178del p.H1727Mfs*18 Frameshift 11/11 - 1
4-106196848-ATGAG-A c.5181_5184del p.H1727Qfs*17 Frameshift 11/11 - 1
4-106196849-G-T c.5182G>T p.E1728* Nonsense 11/11 - 3
4-106196859-G-A c.5192G>A p.G1731D Missense 11/11 - 1
4-106196863-CT-C c.5198del p.F1733Sfs*12 Frameshift 11/11 - 1
4-106196867-CA-C c.5200del p.M1734Wfs*11 Frameshift 11/11 - 1
4-106196869-G-GTA c.5202_5203insTA p.G1735* Nonsense 11/11 - 1
4-106196870-GGGAGCCACCTC-G c.5203_5213del p.G1735* Frameshift 11/11 - 1
4-106196886-T-A c.5219T>A p.L1740* Nonsense 11/11 - 1
4-106196889-CA-AT c.5222_5223delinsAT p.P1741H Missense 11/11 - 1
4-106196897-C-T c.5230C>T p.L1744= Synonymous 11/11 - 1
4-106196894-AATCTGAGCAATCCAAAC-A c.5230_5246del p.L1744Gfs*3 Frameshift 11/11 - 1
4-106196907-C-A c.5240C>A p.P1747Q Missense 11/11 - 1
4-106196916-A-C c.5249A>C p.D1750A Missense 11/11 - 1
4-106196915-GACTAT-G c.5250_5254del p.D1750Efs*4 Frameshift 11/11 - 1
4-106196917-ACT-A c.5250_5251del p.D1750Efs*2 Frameshift 11/11 - 1
4-106196925-AT-TG c.5258_5259delinsTG p.N1753M Missense 11/11 - 1
4-106196927-G-C c.5260G>C p.G1754R Missense 11/11 - 3
4-106196927-G-T c.5260G>T p.G1754C Missense 11/11 - 1
4-106196930-G-A c.5263G>A p.E1755K Missense 11/11 - 1
4-106196930-G-T c.5263G>T p.E1755* Nonsense 11/11 - 1
4-106196936-TC-T c.5269del p.H1757Ifs*6 Frameshift 11/11 - 1
4-106196936-C-G c.5269C>G p.H1757D Missense 11/11 - 2
4-106196940-C-G c.5273C>G p.S1758* Nonsense 11/11 - 1
4-106196951-A-G c.5284A>G p.I1762V Missense 11/11 - 46
4-106196951-A-T c.5284A>T p.I1762L Missense 11/11 - 10
4-106196960-AAC-TAA c.5293_5295delinsTAA p.N1765* Nonsense 11/11 - 1
4-106196962-C-G c.5295C>G p.N1765K Missense 11/11 - 2
4-106196962-C-A c.5295C>A p.N1765K Missense 11/11 - 1
4-106196965-C-A c.5298C>A p.Y1766* Nonsense 11/11 - 2
4-106196965-C-G c.5298C>G p.Y1766* Nonsense 11/11 - 2
4-106196965-AC-A c.5298del p.Y1766* Frameshift 11/11 - 1
4-106196967-G-A c.5300G>A p.S1767N Missense 11/11 - 1
4-106196970-C-T c.5303C>T p.A1768V Missense 11/11 - 1
4-106196972-G-C c.5305G>C p.A1769P Missense 11/11 - 1
4-106196976-C-A c.5309C>A p.P1770Q Missense 11/11 - 1
4-106196981-A-G c.5314A>G p.M1772V Missense 11/11 - 1
4-106196994-C-T c.5327C>T p.S1776F Missense 11/11 - 1
4-106197000-A-G c.5333A>G p.H1778R Missense 11/11 - 9
4-106197000-CAT-C c.5333_5334del p.H1778Rfs*10 Frameshift 11/11 - 1
4-106197014-C-T c.5347C>T p.Q1783* Nonsense 11/11 - 1
4-106197019-C-A c.5352C>A p.N1784K Missense 11/11 - 1
4-106197019-C-T c.5352C>T p.N1784= Synonymous 11/11 - 1
4-106197020-A-T c.5353A>T p.K1785* Nonsense 11/11 - 1
4-106197023-GAGAATGAC-G c.5358_5365del p.E1786Dfs*7 Frameshift 11/11 - 1
4-106197030-GA-G c.5363del p.D1788Afs*32 Frameshift 11/11 - 1
4-106197034-G-C c.5367G>C p.M1789I Missense 11/11 - 1
4-106197034-G-A c.5367G>A p.M1789I Missense 11/11 - 1
4-106197034-G-T c.5367G>T p.M1789I Missense 11/11 - 1
4-106197048-GCTAAT-G c.5381_5385del p.A1794Gfs*10 Frameshift 11/11 - 1
4-106197054-G-T c.5387G>T p.G1796V Missense 11/11 - 1
4-106197057-T-A c.5390T>A p.L1797* Nonsense 11/11 - 1
4-106197057-T-G c.5390T>G p.L1797* Nonsense 11/11 - 1
4-106197059-T-G c.5392T>G p.S1798A Missense 11/11 - 1
4-106197060-C-A c.5393C>A p.S1798* Nonsense 11/11 - 4
4-106197060-C-G c.5393C>G p.S1798* Nonsense 11/11 - 4
4-106197060-C-CA c.5396dup p.M1800Dfs*6 Frameshift 11/11 - 1
4-106197064-G-A c.5397G>A p.K1799= Synonymous 11/11 - 1
4-106197063-A-AG c.5397dup p.M1800Dfs*6 Frameshift 11/11 - 1
4-106197064-G-GA c.5398dup p.M1800Nfs*6 Frameshift 11/11 - 1
4-106197068-CTT-TAA c.5401_5403delinsTAA p.L1801* Nonsense 11/11 - 1
4-106197071-TCCAGCTCTTAACCA-T c.5404_5417del p.P1802* Frameshift 11/11 - 1
4-106197070-T-TC c.5405dup p.A1803Sfs*3 Frameshift 11/11 - 1
4-106197079-T-TA c.5414dup p.N1805Kfs*3 Frameshift 11/11 - 1
4-106197086-TG-T c.5419del p.D1807Ifs*13 Frameshift 11/11 - 1
4-106197089-A-T c.5422A>T p.R1808* Nonsense 11/11 - 1
4-106197088-T-TATCA c.5422_5423insTCAA p.R1808Ifs*15 Frameshift 11/11 - 1
4-106197089-A-G c.5422A>G p.R1808G Missense 11/11 - 1
4-106197090-G-C c.5423G>C p.R1808T Missense 11/11 - 1
4-106197093-ACT-A c.5426_5427del p.T1809Sfs*12 Frameshift 11/11 - 1
4-106197096-CT-C c.5431del p.C1811Vfs*9 Frameshift 11/11 - 1
4-106197098-T-C c.5431T>C p.C1811R Missense 11/11 - 1
4-106197104-C-T c.5437C>T p.Q1813* Nonsense 11/11 - 3
4-106197108-GGAGGCTTACACAAA-G c.5441_5454del p.G1814Vfs*3 Frameshift 11/11 - 1
4-106197109-GAGGCT-G c.5442_5446del p.G1815Tfs*5 Frameshift 11/11 - 1
4-106197114-T-A c.5447T>A p.L1816* Nonsense 11/11 - 1
4-106197114-T-G c.5447T>G p.L1816* Nonsense 11/11 - 1
4-106197114-T-TAA c.5448_5449insAA p.H1817Nfs*4 Frameshift 11/11 - 1
4-106197116-C-A c.5449C>A p.H1817N Missense 11/11 - 2
4-106197120-A-T c.5453A>T p.K1818I Missense 11/11 - 1
4-106197123-T-A c.5456T>A p.L1819* Nonsense 11/11 - 4
4-106197123-T-G c.5456T>G p.L1819* Nonsense 11/11 - 4
4-106197123-T-TCC c.5456_5457insCC p.L1819Ffs*15 Frameshift 11/11 - 1
4-106197122-TTAAGTGA-T c.5457_5463del p.S1820Lfs*11 Frameshift 11/11 - 1
4-106197140-C-T c.5473C>T p.Q1825* Nonsense 11/11 - 4
4-106197143-G-T c.5476G>T p.E1826* Nonsense 11/11 - 1
4-106197147-A-C c.5480A>C p.K1827T Missense 11/11 - 1
4-106197149-C-T c.5482C>T p.Q1828* Nonsense 11/11 - 5
4-106197150-A-T c.5483A>T p.Q1828L Missense 11/11 - 1
4-106197158-G-A c.5491G>A p.A1831T Missense 11/11 - 1
4-106197163-TAGTC-T c.5496_5499del p.V1833Rfs*53 Frameshift 11/11 - 1
4-106197167-C-T c.5500C>T p.Q1834* Nonsense 11/11 - 3
4-106197168-CA-C c.5501del p.Q1834Rfs*53 Frameshift 11/11 - 1
4-106197168-CAGGGTGTGGCTTCT-C c.5501_5514del p.Q1834Rfs*7 Frameshift 11/11 - 1
4-106197168-AG-A c.5504del p.G1835Vfs*52 Frameshift 11/11 - 2
4-106197173-G-A c.5506G>A p.V1836M Missense 11/11 - 1
4-106197177-C-T c.5510C>T p.A1837V Missense 11/11 - 1
4-106197185-GCA-TGT c.5518_5520delinsTGT p.A1840C Missense 11/11 - 1
4-106197185-G-A c.5518G>A p.A1840T Missense 11/11 - 1
4-106197186-C-T c.5519C>T p.A1840V Missense 11/11 - 1
4-106197188-G-T c.5521G>T p.E1841* Nonsense 11/11 - 1
4-106197188-G-C c.5521G>C p.E1841Q Missense 11/11 - 1
4-106197194-A-T c.5527A>T p.N1843Y Missense 11/11 - 1
4-106197197-G-A c.5530G>A p.D1844N Missense 11/11 - 2
4-106197200-G-T c.5533G>T p.E1845* Nonsense 11/11 - 1
4-106197201-A-G c.5534A>G p.E1845G Missense 11/11 - 1
4-106197202-G-GATCGGCGCGTTAGAAGACA c.5535_5536insATCGGCGCGTTAGAAGACA p.V1846Ifs*19 Frameshift 11/11 - 1
4-106197203-G-T c.5536G>T p.V1846F Missense 11/11 - 1
4-106197201-AGGTCT-A c.5539_5543del p.W1847Rfs*10 Frameshift 11/11 - 1
4-106197207-G-A c.5540G>A p.W1847* Nonsense 11/11 - 5
4-106197208-G-A c.5541G>A p.W1847* Nonsense 11/11 - 6
4-106197206-T-TG c.5541dup p.S1848Vfs*11 Frameshift 11/11 - 1
4-106197209-T-G c.5542T>G p.S1848A Missense 11/11 - 1
4-106197210-C-A c.5543C>A p.S1848* Nonsense 11/11 - 3
4-106197210-C-G c.5543C>G p.S1848* Nonsense 11/11 - 3
4-106197213-A-T c.5546A>T p.D1849V Missense 11/11 - 1
4-106197218-G-T c.5551G>T p.E1851* Nonsense 11/11 - 3
4-106197218-G-A c.5551G>A p.E1851K Missense 11/11 - 1
4-106197221-C-T c.5554C>T p.Q1852* Nonsense 11/11 - 2
4-106197222-A-C c.5555A>C p.Q1852P Missense 11/11 - 1
4-106197221-C-CA c.5555dup p.S1853Efs*6 Frameshift 11/11 - 1
4-106197224-A-AG c.5558dup p.S1853Rfs*6 Frameshift 11/11 - 1
4-106197226-C-T c.5559C>T p.S1853= Synonymous 11/11 - 1
4-106197226-CT-C c.5562del p.L1855Wfs*32 Frameshift 11/11 - 1
4-106197237-C-A c.5570C>A p.P1857H Missense 11/11 - 1
4-106197237-CCTGACATTGGG-C c.5570_5580del p.P1857Rfs*14 Frameshift 11/11 - 1
4-106197237-C-CT c.5571dup p.D1858* Nonsense 11/11 - 1
4-106197239-GAC-G c.5574_5575del p.I1859Wfs*15 Frameshift 11/11 - 1
4-106197241-C-A c.5574C>A p.D1858E Missense 11/11 - 1
4-106197242-A-G c.5575A>G p.I1859V Missense 11/11 - 1
4-106197242-AT-A c.5577del p.I1859Mfs*28 Frameshift 11/11 - 1
4-106197242-A-AT c.5577dup p.G1860Wfs*15 Frameshift 11/11 - 1
4-106197246-G-A c.5579G>A p.G1860E Missense 11/11 - 1
4-106197248-G-A c.5581G>A p.G1861R Missense 11/11 - 3
4-106197248-G-C c.5581G>C p.G1861R Missense 11/11 - 3
4-106197249-G-T c.5582G>T p.G1861V Missense 11/11 - 3
4-106197249-G-A c.5582G>A p.G1861E Missense 11/11 - 4
4-106197252-T-G c.5585T>G p.V1862G Missense 11/11 - 3
4-106197254-G-T c.5587G>T p.A1863S Missense 11/11 - 1
4-106197254-G-A c.5587G>A p.A1863T Missense 11/11 - 1
4-106197255-C-T c.5588C>T p.A1863V Missense 11/11 - 3
4-106197255-C-A c.5588C>A p.A1863D Missense 11/11 - 1
4-106197257-G-A c.5590G>A p.V1864M Missense 11/11 - 1
4-106197258-T-A c.5591T>A p.V1864E Missense 11/11 - 2
4-106197260-G-A c.5593G>A p.A1865T Missense 11/11 - 1
4-106197264-C-G c.5597C>G p.P1866R Missense 11/11 - 1
4-106197266-A-G c.5599A>G p.T1867A Missense 11/11 - 1
4-106197269-C-T c.5602C>T p.H1868Y Missense 11/11 - 4
4-106197270-A-T c.5603A>T p.H1868L Missense 11/11 - 1
4-106197270-A-G c.5603A>G p.H1868R Missense 11/11 - 1
4-106197272-G-T c.5605G>T p.G1869W Missense 11/11 - 1
4-106197273-G-A c.5606G>A p.G1869E Missense 11/11 - 3
4-106197273-G-T c.5606G>T p.G1869V Missense 11/11 - 1
4-106197271-T-TG c.5607dup p.S1870Vfs*5 Frameshift 11/11 - 1
4-106197276-C-T c.5609C>T p.S1870L Missense 11/11 - 2
4-106197276-C-A c.5609C>A p.S1870* Nonsense 11/11 - 1
4-106197276-C-G c.5609C>G p.S1870* Nonsense 11/11 - 2
4-106197276-C-CCAATTCTCATTGAGTGTGCAAAGCGTGAGCTGCATGCCA c.5609_5610insCAATTCTCATTGAGTGTGCAAAGCGTGAGCTGCATGCCA p.S1870_I1871insNSH* Frameshift 11/11 - 1
4-106197276-CA-C c.5611del p.I1871Ffs*16 Frameshift 11/11 - 1
4-106197279-T-G c.5612T>G p.I1871S Missense 11/11 - 1
4-106197282-T-G c.5615T>G p.L1872R Missense 11/11 - 1
4-106197285-T-C c.5618T>C p.I1873T Missense 11/11 - 27
4-106197285-T-A c.5618T>A p.I1873N Missense 11/11 - 2
4-106197285-T-G c.5618T>G p.I1873S Missense 11/11 - 1
4-106197284-AT-A c.5619del p.I1873Mfs*14 Frameshift 11/11 - 2
4-106197287-G-A c.5620G>A p.E1874K Missense 11/11 - 4
4-106197287-G-C c.5620G>C p.E1874Q Missense 11/11 - 1
4-106197287-G-T c.5620G>T p.E1874* Nonsense 11/11 - 1
4-106197288-A-G c.5621A>G p.E1874G Missense 11/11 - 1
4-106197285-TTGAG-T c.5621_5624del p.E1874Vfs*12 Frameshift 11/11 - 2
4-106197290-T-C c.5623T>C p.C1875R Missense 11/11 - 2
4-106197293-G-A c.5626G>A p.A1876T Missense 11/11 - 6
4-106197294-C-G c.5627C>G p.A1876G Missense 11/11 - 1
4-106197294-C-T c.5627C>T p.A1876V Missense 11/11 - 2
4-106197294-C-A c.5627C>A p.A1876E Missense 11/11 - 1
4-106197296-A-G c.5629A>G p.K1877E Missense 11/11 - 2
4-106197297-A-G c.5630A>G p.K1877R Missense 11/11 - 1
4-106197299-C-T c.5632C>T p.R1878C Missense 11/11 - 1
4-106197300-G-C c.5633G>C p.R1878P Missense 11/11 - 1
4-106197300-G-A c.5633G>A p.R1878H Missense 11/11 - 2
4-106197300-G-T c.5633G>T p.R1878L Missense 11/11 - 1
4-106197300-G-GT c.5634dup p.E1879* Nonsense 11/11 - 1
4-106197302-G-C c.5635G>C p.E1879Q Missense 11/11 - 3
4-106197302-G-T c.5635G>T p.E1879* Nonsense 11/11 - 1
4-106197303-A-T c.5636A>T p.E1879V Missense 11/11 - 1
4-106197303-A-C c.5636A>C p.E1879A Missense 11/11 - 1
4-106197306-T-C c.5639T>C p.L1880P Missense 11/11 - 2
4-106197308-C-T c.5641C>T p.H1881Y Missense 11/11 - 5
4-106197308-C-A c.5641C>A p.H1881N Missense 11/11 - 1
4-106197309-A-G c.5642A>G p.H1881R Missense 11/11 - 11
4-106197309-A-T c.5642A>T p.H1881L Missense 11/11 - 1
4-106197310-T-A c.5643T>A p.H1881Q Missense 11/11 - 3
4-106197310-T-G c.5643T>G p.H1881Q Missense 11/11 - 3
4-106197311-G-T c.5644G>T p.A1882S Missense 11/11 - 2
4-106197312-C-A c.5645C>A p.A1882D Missense 11/11 - 1
4-106197312-C-T c.5645C>T p.A1882V Missense 11/11 - 2
4-106197314-A-C c.5647A>C p.T1883P Missense 11/11 - 1
4-106197315-C-T c.5648C>T p.T1883I Missense 11/11 - 1
4-106197317-A-G c.5650A>G p.T1884A Missense 11/11 - 14
4-106197318-C-T c.5651C>T p.T1884I Missense 11/11 - 2
4-106197316-AACCCCTTTAAAG-A c.5651_5662del p.T1884_K1887del InFrameDeletion 11/11 - 1
4-106197319-C-G c.5652C>G p.T1884= Synonymous 11/11 - 1
4-106197321-C-A c.5654C>A p.P1885H Missense 11/11 - 1
4-106197324-T-C c.5657T>C p.L1886S Missense 11/11 - 1
4-106197324-TAAAGA-T c.5659_5663del p.K1887Sfs*3 Frameshift 11/11 - 1
4-106197324-T-TA c.5660dup p.N1888Efs*4 Frameshift 11/11 - 1
4-106197333-C-G c.5666C>G p.P1889R Missense 11/11 - 2
4-106197333-C-T c.5666C>T p.P1889L Missense 11/11 - 1
4-106197333-C-A c.5666C>A p.P1889H Missense 11/11 - 1
4-106197331-TC-T c.5667del p.N1890Ifs*18 Frameshift 11/11 - 1
4-106197336-A-T c.5669A>T p.N1890I Missense 11/11 - 1
4-106197336-A-G c.5669A>G p.N1890S Missense 11/11 - 4
4-106197338-A-G c.5671A>G p.R1891G Missense 11/11 - 2
4-106197338-A-T c.5671A>T p.R1891W Missense 11/11 - 1
4-106197338-AG-A c.5673del p.N1892Ifs*16 Frameshift 11/11 - 1
4-106197343-AT-A c.5676del p.H1893Tfs*15 Frameshift 11/11 - 1
4-106197347-C-A c.5680C>A p.P1894T Missense 11/11 - 1
4-106197348-C-A c.5681C>A p.P1894H Missense 11/11 - 3
4-106197348-C-T c.5681C>T p.P1894L Missense 11/11 - 1
4-106197353-A-T c.5686A>T p.R1896W Missense 11/11 - 1
4-106197353-A-G c.5686A>G p.R1896G Missense 11/11 - 1
4-106197354-G-T c.5687G>T p.R1896M Missense 11/11 - 3
4-106197355-G-C c.5688G>C p.R1896S Missense 11/11 - 6
4-106197355-G-T c.5688G>T p.R1896S Missense 11/11 - 6
4-106197357-T-G c.5690T>G p.I1897S Missense 11/11 - 2
4-106197357-T-C c.5690T>C p.I1897T Missense 11/11 - 1
4-106197357-T-A c.5690T>A p.I1897N Missense 11/11 - 1
4-106197359-T-C c.5692T>C p.S1898P Missense 11/11 - 1
4-106197360-C-T c.5693C>T p.S1898F Missense 11/11 - 4
4-106197360-C-G c.5693C>G p.S1898C Missense 11/11 - 1
4-106197359-TC-T c.5695del p.L1899Sfs*9 Frameshift 11/11 - 1
4-106197363-CT-C c.5696del p.L1899Pfs*9 Frameshift 11/11 - 1
4-106197365-G-T c.5698G>T p.V1900F Missense 11/11 - 2
4-106197365-G-A c.5698G>A p.V1900I Missense 11/11 - 2
4-106197365-G-C c.5698G>C p.V1900L Missense 11/11 - 1
4-106197366-T-G c.5699T>G p.V1900G Missense 11/11 - 2
4-106197366-T-C c.5699T>C p.V1900A Missense 11/11 - 2
4-106197366-T-A c.5699T>A p.V1900D Missense 11/11 - 1
4-106197367-CTT-C c.5703_5704del p.F1901Lfs*4 Frameshift 11/11 - 2
4-106197371-TA-GC c.5704_5705delinsGC p.Y1902A Missense 11/11 - 3
4-106197371-T-C c.5704T>C p.Y1902H Missense 11/11 - 2
4-106197372-A-T c.5705A>T p.Y1902F Missense 11/11 - 2
4-106197372-A-G c.5705A>G p.Y1902C Missense 11/11 - 1
4-106197374-C-T c.5707C>T p.Q1903* Nonsense 11/11 - 4
4-106197374-C-G c.5707C>G p.Q1903E Missense 11/11 - 1
4-106197375-A-AG c.5709dup p.H1904Afs*2 Frameshift 11/11 - 1
4-106197376-AG-A c.5709del p.Q1903Hfs*5 Frameshift 11/11 - 1
4-106197377-C-T c.5710C>T p.H1904Y Missense 11/11 - 1
4-106197378-A-G c.5711A>G p.H1904R Missense 11/11 - 14
4-106197379-T-A c.5712T>A p.H1904Q Missense 11/11 - 2
4-106197379-T-G c.5712T>G p.H1904Q Missense 11/11 - 2
4-106197380-A-G c.5713A>G p.K1905E Missense 11/11 - 4
4-106197381-AGAGCAT-A c.5717_5722del p.S1906_M1907del InFrameDeletion 11/11 - 1
4-106197387-T-C c.5720T>C p.M1907T Missense 11/11 - 1
4-106197387-T-A c.5720T>A p.M1907K Missense 11/11 - 2
4-106197391-T-A c.5724T>A p.N1908K Missense 11/11 - 1
4-106197392-G-T c.5725G>T p.E1909* Nonsense 11/11 - 1
4-106197396-CA-C c.5733del p.K1911Nfs*39 Frameshift 11/11 - 1
4-106197401-C-T c.5734C>T p.H1912Y Missense 11/11 - 5
4-106197401-C-G c.5734C>G p.H1912D Missense 11/11 - 1
4-106197405-G-C c.5738G>C p.G1913A Missense 11/11 - 1
4-106197405-G-A c.5738G>A p.G1913D Missense 11/11 - 4
4-106197408-T-A c.5741T>A p.L1914* Nonsense 11/11 - 1
4-106197419-G-A c.5752G>A p.E1918K Missense 11/11 - 1
4-106197422-G-A c.5755G>A p.A1919T Missense 11/11 - 2
4-106197423-C-T c.5756C>T p.A1919V Missense 11/11 - 2
4-106197425-A-G c.5758A>G p.K1920E Missense 11/11 - 1
4-106197424-CA-C c.5761del p.M1921Wfs*29 Frameshift 11/11 - 2
4-106197431-G-C c.5764G>C p.A1922P Missense 11/11 - 1
4-106197431-G-A c.5764G>A p.A1922T Missense 11/11 - 2
4-106197433-T-A c.5766T>A p.A1922= Synonymous 11/11 - 1
4-106197433-T-C c.5766T>C p.A1922= Synonymous 11/11 - 1
4-106197433-T-G c.5766T>G p.A1922= Synonymous 11/11 - 1
4-106197437-A-G c.5770A>G p.K1924E Missense 11/11 - 1
4-106197438-A-C c.5771A>C p.K1924T Missense 11/11 - 1
4-106197434-GA-G c.5772del p.A1925Pfs*25 Frameshift 11/11 - 2
4-106197443-C-T c.5776C>T p.R1926C Missense 11/11 - 1
4-106197444-G-A c.5777G>A p.R1926H Missense 11/11 - 1
4-106197458-G-C c.5791G>C p.E1931Q Missense 11/11 - 1
4-106197459-A-G c.5792A>G p.E1931G Missense 11/11 - 1
4-106197462-G-T c.5795G>T p.C1932F Missense 11/11 - 1
4-106197471-A-C c.5804A>C p.Y1935S Missense 11/11 - 1
4-106197482-TA-GC c.5815_5816delinsGC p.Y1939A Missense 11/11 - 1
4-106197483-A-G c.5816A>G p.Y1939C Missense 11/11 - 1
4-106197488-C-G c.5821C>G p.P1941A Missense 11/11 - 1
4-106197488-C-T c.5821C>T p.P1941S Missense 11/11 - 1
4-106197493-G-T c.5826G>T p.Q1942H Missense 11/11 - 1
4-106197493-G-C c.5826G>C p.Q1942H Missense 11/11 - 1
4-106197497-ATCCCATGGC-A c.5830_5838del p.S1944_G1946del InFrameDeletion 11/11 - 1
4-106197497-TC-T c.5833del p.H1945Mfs*5 Frameshift 11/11 - 1
4-106197503-G-A c.5836G>A p.G1946S Missense 11/11 - 1
4-106197504-G-C c.5837G>C p.G1946A Missense 11/11 - 1
4-106197505-C-CA c.5844dup p.V1949Sfs*7 Frameshift 11/11 - 3
4-106197519-G-A c.5852G>A p.R1951Q Missense 11/11 - 1
4-106197523-G-C c.5856G>C p.E1952D Missense 11/11 - 1
4-106197523-G-T c.5856G>T p.E1952D Missense 11/11 - 1
4-106197527-G-A c.5860G>A p.A1954T Missense 11/11 - 1
4-106197528-C-T c.5861C>T p.A1954V Missense 11/11 - 1
4-106197551-C-A c.5884C>A p.P1962T Missense 11/11 - 2
4-106197552-C-T c.5885C>T p.P1962L Missense 11/11 - 7
4-106197557-TA-GC c.5890_5891delinsGC p.Y1964A Missense 11/11 - 1
4-106197561-T-C c.5894T>C p.L1965P Missense 11/11 - 1
4-106197563-C-T c.5896C>T p.R1966C Missense 11/11 - 2
4-106197564-G-A c.5897G>A p.R1966H Missense 11/11 - 2
4-106197581-G-C c.5914G>C p.A1972P Missense 11/11 - 1
4-106197584-G-A c.5917G>A p.E1973K Missense 11/11 - 3
4-106197588-G-T c.5921G>T p.R1974M Missense 11/11 - 1
4-106197596-TC-GG c.5929_5930delinsGG p.S1977G Missense 11/11 - 1
4-106197606-C-T c.5939C>T p.T1980I Missense 11/11 - 1
4-106197609-A-G c.5942A>G p.D1981G Missense 11/11 - 1
4-106197617-AGTAACTAC-A c.5950_5957del p.V1984Ifs*28 Frameshift 11/11 - 1
4-106197619-AAC-T c.5952_5954delinsT p.T1985Yfs*29 Frameshift 11/11 - 1
4-106197621-C-T c.5954C>T p.T1985I Missense 11/11 - 1
4-106197645-G-A c.5978G>A p.R1993Q Missense 11/11 - 1
4-106197646-G-C c.5979G>C p.R1993= Synonymous 11/11 - 1
4-106197647-G-A c.5980G>A p.V1994I Missense 11/11 - 1
4-106197666-G-A c.5999G>A p.R2000K Missense 11/11 - 2
4-106197671-A-G c.6004A>G p.I2002V Missense 11/11 - 1
4-106197750-G-A c.*74G>A - 3-UTRSNV 11/11 - 1
4-106199505-A-T c.*1829A>T - 3-UTRSNV 11/11 - 3