HPS5

HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

Annotation transcript: NM_181507.2

1111 unique variant annotations were identified in 408 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
11-18300309-AAACTTTAGTCATATTTTACATTTATTATTAATATAACATGCTATGTAAATGTACAGGAG-A c.*1062_*1120del - 3-UTRDeletion 23/23 - 1
11-18300625-G-A c.*804C>T - 3-UTRSNV 23/23 - 1
11-18300954-G-A c.*475C>T - 3-UTRSNV 23/23 - 5
11-18300965-G-T c.*464C>A - 3-UTRSNV 23/23 - 4
11-18301129-A-G c.*300T>C - 3-UTRSNV 23/23 - 8
11-18301130-G-A c.*299C>T - 3-UTRSNV 23/23 - 7
11-18301277-C-T c.*152G>A - 3-UTRSNV 23/23 - 1
11-18301359-G-A c.*70C>T - 3-UTRSNV 23/23 - 1
11-18301374-G-A c.*55C>T - 3-UTRSNV 23/23 - 1
11-18301439-T-A c.3380A>T p.Q1127L Missense 23/23 - 1
11-18301447-G-C c.3372C>G p.L1124= Synonymous 23/23 - 1
11-18301449-G-T c.3370C>A p.L1124I Missense 23/23 - 1
11-18301452-A-G c.3367T>C p.F1123L Missense 23/23 - 1
11-18301455-G-A c.3364C>T p.R1122W Missense 23/23 - 5
11-18301459-G-A c.3360C>T p.C1120= Synonymous 23/23 - 3
11-18301471-C-A c.3348G>T p.M1116I Missense 23/23 - 3
11-18301471-C-G c.3348G>C p.M1116I Missense 23/23 - 1
11-18301471-C-T c.3348G>A p.M1116I Missense 23/23 - 1
11-18301473-T-C c.3346A>G p.M1116V Missense 23/23 - 1
11-18301483-C-A c.3336G>T p.L1112F Missense 23/23 - 1
11-18301483-C-G c.3336G>C p.L1112F Missense 23/23 - 1
11-18301487-G-A c.3332C>T p.A1111V Missense 23/23 - 1
11-18301488-C-G c.3331G>C p.A1111P Missense 23/23 - 1
11-18301490-C-T c.3330-1G>A - IntronicSNV - 22/22 1
11-18301605-T-A c.3330-116A>T - IntronicSNV - 22/22 5
11-18301605-T-C c.3330-116A>G - IntronicSNV - 22/22 5
11-18301840-T-C c.3330-351A>G - IntronicSNV - 22/22 1
11-18302094-A-G c.3330-605T>C - IntronicSNV - 22/22 1
11-18302141-C-T c.3330-652G>A - IntronicSNV - 22/22 1
11-18303169-T-C c.3329+328A>G - IntronicSNV - 22/22 1
11-18303404-C-T c.3329+93G>A - IntronicSNV - 22/22 6
11-18303500-T-A c.3326A>T p.Q1109L Missense 22/23 - 1
11-18303501-G-A c.3325C>T p.Q1109* Nonsense 22/23 - 1
11-18303508-C-G c.3318G>C p.E1106D Missense 22/23 - 1
11-18303518-C-A c.3308G>T p.R1103M Missense 22/23 - 1
11-18303523-G-A c.3303C>T p.I1101= Synonymous 22/23 - 3
11-18303526-A-G c.3300T>C p.D1100= Synonymous 22/23 - 1
11-18303528-C-T c.3298G>A p.D1100N Missense 22/23 - 1
11-18303533-G-A c.3293C>T p.T1098I Missense 22/23 - 13
11-18303546-T-G c.3280A>C p.K1094Q Missense 22/23 - 1
11-18303547-C-A c.3279G>T p.E1093D Missense 22/23 - 3
11-18303547-C-G c.3279G>C p.E1093D Missense 22/23 - 3
11-18303548-CT-C c.3278del p.E1093Gfs*10 Frameshift 22/23 - 1
11-18303549-C-A c.3277G>T p.E1093* Nonsense 22/23 - 1
11-18303558-C-G c.3268G>C p.E1090Q Missense 22/23 - 1
11-18303562-G-A c.3264C>T p.A1088= Synonymous 22/23 - 1
11-18303564-C-A c.3262G>T p.A1088S Missense 22/23 - 1
11-18303567-G-A c.3259C>T p.L1087= Synonymous 22/23 - 2
11-18303567-G-C c.3259C>G p.L1087V Missense 22/23 - 1
11-18303571-A-G c.3255T>C p.C1085= Synonymous 22/23 - 1
11-18303576-C-T c.3250G>A p.E1084K Missense 22/23 - 1
11-18303597-G-A c.3229C>T p.R1077W Missense 22/23 - 4
11-18303599-T-G c.3227A>C p.D1076A Missense 22/23 - 1
11-18303600-C-G c.3226G>C p.D1076H Missense 22/23 - 1
11-18303600-C-T c.3226G>A p.D1076N Missense 22/23 - 1
11-18303602-G-C c.3224C>G p.P1075R Missense 22/23 - 1
11-18303622-C-A c.3204G>T p.L1068= Synonymous 22/23 - 1
11-18303622-C-G c.3204G>C p.L1068= Synonymous 22/23 - 1
11-18303622-C-T c.3204G>A p.L1068= Synonymous 22/23 - 1
11-18303624-G-A c.3202C>T p.L1068= Synonymous 22/23 - 1
11-18303627-G-T c.3199C>A p.L1067I Missense 22/23 - 1
11-18303629-G-T c.3197C>A p.A1066E Missense 22/23 - 1
11-18303633-C-T c.3193G>A p.V1065M Missense 22/23 - 1
11-18303642-C-A c.3184G>T p.V1062L Missense 22/23 - 1
11-18303642-C-T c.3184G>A p.V1062M Missense 22/23 - 6
11-18303648-AT-A c.3178del p.I1060Sfs*10 Frameshift 22/23 - 1
11-18303650-G-C c.3176C>G p.P1059R Missense 22/23 - 1
11-18303651-G-A c.3175C>T p.P1059S Missense 22/23 - 1
11-18303659-C-G c.3167G>C p.G1056A Missense 22/23 - 3
11-18303665-C-T c.3161G>A p.S1054N Missense 22/23 - 1
11-18303688-C-T c.3138G>A p.Q1046= Synonymous 22/23 - 1
11-18303689-T-C c.3137A>G p.Q1046R Missense 22/23 - 1
11-18303689-T-TG c.3136dup p.Q1046Pfs*10 Frameshift 22/23 - 1
11-18303699-G-A c.3127C>T p.P1043S Missense 22/23 - 1
11-18303700-CCT-ATG c.3124_3126delinsCAT p.R1042H Missense 22/23 - 1
11-18303703-C-A c.3123G>T p.T1041= Synonymous 22/23 - 2
11-18303703-C-G c.3123G>C p.T1041= Synonymous 22/23 - 2
11-18303703-C-T c.3123G>A p.T1041= Synonymous 22/23 - 3
11-18303704-G-A c.3122C>T p.T1041M Missense 22/23 - 1
11-18303704-G-C c.3122C>G p.T1041R Missense 22/23 - 1
11-18303707-C-T c.3119G>A p.S1040N Missense 22/23 - 1
11-18303708-T-C c.3118A>G p.S1040G Missense 22/23 - 1
11-18303714-T-C c.3112A>G p.S1038G Missense 22/23 - 1
11-18303723-G-T c.3103C>A p.L1035I Missense 22/23 - 2
11-18303729-G-A c.3097C>T p.L1033F Missense 22/23 - 5
11-18303727-AAGG-A c.3096_3098del p.L1033del InFrameDeletion 22/23 - 2
11-18303735-G-T c.3091C>A p.L1031I Missense 22/23 - 1
11-18303739-C-T c.3087G>A p.W1029* Nonsense 22/23 - 1
11-18303740-C-T c.3086G>A p.W1029* Nonsense 22/23 - 1
11-18303741-A-G c.3085T>C p.W1029R Missense 22/23 - 1
11-18303747-C-A c.3079G>T p.E1027* Nonsense 22/23 - 1
11-18303767-C-T c.3059G>A p.G1020D Missense 22/23 - 1
11-18305269-AT-A c.3058+72del - IntronicDeletion - 21/22 1
11-18305333-T-C c.3058+9A>G - IntronicSNV - 21/22 2
11-18305339-T-C c.3058+3A>G - IntronicSNV - 21/22 2
11-18305347-T-A c.3053A>T p.D1018V Missense 21/23 - 1
11-18305352-T-C c.3048A>G p.E1016= Synonymous 21/23 - 1
11-18305354-C-G c.3046G>C p.E1016Q Missense 21/23 - 1
11-18305354-C-T c.3046G>A p.E1016K Missense 21/23 - 4
11-18305355-C-A c.3045G>T p.M1015I Missense 21/23 - 3
11-18305355-C-G c.3045G>C p.M1015I Missense 21/23 - 3
11-18305355-C-T c.3045G>A p.M1015I Missense 21/23 - 10
11-18305359-A-T c.3041T>A p.L1014Q Missense 21/23 - 1
11-18305379-C-A c.3021G>T p.V1007= Synonymous 21/23 - 1
11-18305379-C-G c.3021G>C p.V1007= Synonymous 21/23 - 1
11-18305379-C-T c.3021G>A p.V1007= Synonymous 21/23 - 1
11-18305383-A-G c.3017T>C p.I1006T Missense 21/23 - 1
11-18305386-T-C c.3014A>G p.N1005S Missense 21/23 - 3
11-18305387-T-C c.3013A>G p.N1005D Missense 21/23 - 1
11-18305388-GG-CA c.3011_3012delinsTG p.T1004M Missense 21/23 - 1
11-18305395-G-A c.3005C>T p.A1002V Missense 21/23 - 1
11-18305395-G-C c.3005C>G p.A1002G Missense 21/23 - 1
11-18305396-C-T c.3004G>A p.A1002T Missense 21/23 - 3
11-18305401-C-G c.2999G>C p.R1000T Missense 21/23 - 2
11-18305407-C-G c.2993G>C p.R998T Missense 21/23 - 1
11-18305412-C-T c.2988G>A p.L996= Synonymous 21/23 - 1
11-18305417-CCAAA-C c.2979_2982del p.C993Wfs*16 Frameshift 21/23 - 1
11-18305422-C-G c.2978G>C p.C993S Missense 21/23 - 1
11-18305422-CAGAG-C c.2974_2977del p.L992Vfs*17 Frameshift 21/23 - 1
11-18305426-G-A c.2974C>T p.L992F Missense 21/23 - 1
11-18305426-G-T c.2974C>A p.L992I Missense 21/23 - 1
11-18305432-G-C c.2968C>G p.L990V Missense 21/23 - 1
11-18305438-C-T c.2962G>A p.G988R Missense 21/23 - 1
11-18306399-G-A c.2951+494C>T - IntronicSNV - 20/22 1
11-18306689-TAA-T c.2951+202_2951+203del - IntronicDeletion - 20/22 1
11-18306894-C-A c.2950G>T p.G984C Missense 20/23 - 1
11-18306896-C-T c.2948G>A p.C983Y Missense 20/23 - 1
11-18306897-A-C c.2947T>G p.C983G Missense 20/23 - 3
11-18306901-C-A c.2943G>T p.R981S Missense 20/23 - 1
11-18306901-C-G c.2943G>C p.R981S Missense 20/23 - 1
11-18306904-G-A c.2940C>T p.C980= Synonymous 20/23 - 1
11-18306906-A-C c.2938T>G p.C980G Missense 20/23 - 1
11-18306907-G-A c.2937C>T p.I979= Synonymous 20/23 - 1
11-18306909-T-C c.2935A>G p.I979V Missense 20/23 - 1
11-18306911-T-G c.2933A>C p.D978A Missense 20/23 - 1
11-18306915-T-C c.2929A>G p.T977A Missense 20/23 - 2
11-18306924-C-G c.2920G>C p.E974Q Missense 20/23 - 1
11-18306930-T-C c.2914A>G p.T972A Missense 20/23 - 1
11-18306943-A-G c.2901T>C p.P967= Synonymous 20/23 - 1
11-18306946-A-G c.2898T>C p.L966= Synonymous 20/23 - 1
11-18306947-A-G c.2897T>C p.L966P Missense 20/23 - 1
11-18306950-T-G c.2894A>C p.K965T Missense 20/23 - 1
11-18306955-T-A c.2889A>T p.L963= Synonymous 20/23 - 2
11-18306955-T-C c.2889A>G p.L963= Synonymous 20/23 - 2
11-18306955-T-G c.2889A>C p.L963= Synonymous 20/23 - 2
11-18306957-G-A c.2887C>T p.L963= Synonymous 20/23 - 3
11-18306959-T-G c.2885A>C p.H962P Missense 20/23 - 1
11-18306974-C-A c.2870G>T p.S957I Missense 20/23 - 1
11-18306974-C-T c.2870G>A p.S957N Missense 20/23 - 1
11-18306975-T-A c.2869A>T p.S957C Missense 20/23 - 1
11-18306976-G-A c.2868C>T p.Y956= Synonymous 20/23 - 1
11-18306978-A-G c.2866T>C p.Y956H Missense 20/23 - 3
11-18306986-G-A c.2858C>T p.S953F Missense 20/23 - 1
11-18307045-T-C c.2838-39A>G - IntronicSNV - 19/22 8
11-18308102-A-G c.2837+36T>C - IntronicSNV - 19/22 1
11-18308138-C-A c.2837G>T p.R946M Missense 19/23 - 2
11-18308140-G-A c.2835C>T p.P945= Synonymous 19/23 - 1
11-18308141-G-T c.2834C>A p.P945H Missense 19/23 - 1
11-18308142-G-A c.2833C>T p.P945S Missense 19/23 - 2
11-18308153-T-A c.2822A>T p.D941V Missense 19/23 - 1
11-18308166-T-C c.2809A>G p.S937G Missense 19/23 - 1
11-18308175-G-C c.2800C>G p.P934A Missense 19/23 - 1
11-18308177-G-A c.2798C>T p.P933L Missense 19/23 - 1
11-18308177-G-T c.2798C>A p.P933Q Missense 19/23 - 1
11-18308180-G-A c.2795C>T p.A932V Missense 19/23 - 1
11-18308181-C-A c.2794G>T p.A932S Missense 19/23 - 1
11-18308184-C-A c.2791G>T p.D931Y Missense 19/23 - 1
11-18308191-CAC-GAT c.2782_2784delinsATC p.V928I Missense 19/23 - 2
11-18308215-C-A c.2760G>T p.R920S Missense 19/23 - 2
11-18308215-C-G c.2760G>C p.R920S Missense 19/23 - 1
11-18308218-T-A c.2757A>T p.L919F Missense 19/23 - 1
11-18308218-T-G c.2757A>C p.L919F Missense 19/23 - 1
11-18308223-ACT-A c.2750_2751del p.E917Vfs*14 Frameshift 19/23 - 1
11-18308228-G-A c.2747C>T p.P916L Missense 19/23 - 1
11-18308238-G-C c.2737C>G p.L913V Missense 19/23 - 2
11-18308240-G-A c.2735C>T p.S912F Missense 19/23 - 3
11-18308251-A-C c.2724T>G p.S908= Synonymous 19/23 - 1
11-18308251-A-G c.2724T>C p.S908= Synonymous 19/23 - 1
11-18308251-A-T c.2724T>A p.S908= Synonymous 19/23 - 1
11-18308254-T-A c.2721A>T p.S907= Synonymous 19/23 - 1
11-18308254-T-C c.2721A>G p.S907= Synonymous 19/23 - 1
11-18308254-T-G c.2721A>C p.S907= Synonymous 19/23 - 1
11-18308255-G-A c.2720C>T p.S907L Missense 19/23 - 2
11-18308256-A-G c.2719T>C p.S907P Missense 19/23 - 1
11-18308265-A-G c.2718-8T>C - IntronicSNV - 18/22 1
11-18308457-G-A c.2718-200C>T - IntronicSNV - 18/22 1
11-18308457-G-T c.2718-200C>A - IntronicSNV - 18/22 1
11-18308458-A-AG c.2718-202_2718-201insC - IntronicInsertion - 18/22 1
11-18309087-A-C c.2712T>G p.D904E Missense 18/23 - 1
11-18309087-A-G c.2712T>C p.D904= Synonymous 18/23 - 1
11-18309087-A-T c.2712T>A p.D904E Missense 18/23 - 1
11-18309092-C-A c.2707G>T p.E903* Nonsense 18/23 - 1
11-18309092-C-T c.2707G>A p.E903K Missense 18/23 - 2
11-18309096-C-T c.2703G>A p.R901= Synonymous 18/23 - 2
11-18309121-T-C c.2678A>G p.Y893C Missense 18/23 - 1
11-18309134-C-T c.2665G>A p.E889K Missense 18/23 - 3
11-18309143-G-A c.2656C>T p.H886Y Missense 18/23 - 2
11-18309145-T-G c.2654A>C p.H885P Missense 18/23 - 1
11-18309150-A-G c.2649T>C p.C883= Synonymous 18/23 - 3
11-18309153-A-G c.2646T>C p.L882= Synonymous 18/23 - 1
11-18309160-A-G c.2639T>C p.I880T Missense 18/23 - 1
11-18309162-G-A c.2637C>T p.I879= Synonymous 18/23 - 2
11-18309162-G-T c.2637C>A p.I879= Synonymous 18/23 - 1
11-18309168-C-A c.2631G>T p.S877= Synonymous 18/23 - 1
11-18309168-C-G c.2631G>C p.S877= Synonymous 18/23 - 1
11-18309168-C-T c.2631G>A p.S877= Synonymous 18/23 - 2
11-18309169-G-A c.2630C>T p.S877L Missense 18/23 - 5
11-18309170-A-G c.2629T>C p.S877P Missense 18/23 - 1
11-18309176-A-G c.2623T>C p.L875= Synonymous 18/23 - 1
11-18309174-CA-C c.2624del p.L875Cfs*20 Frameshift 18/23 - 2
11-18309174-C-CA c.2624dup p.L875Ffs*15 Frameshift 18/23 - 2
11-18309183-T-A c.2616A>T p.P872= Synonymous 18/23 - 1
11-18309183-T-C c.2616A>G p.P872= Synonymous 18/23 - 1
11-18309183-T-G c.2616A>C p.P872= Synonymous 18/23 - 1
11-18309186-A-C c.2613T>G p.F871L Missense 18/23 - 1
11-18309186-A-T c.2613T>A p.F871L Missense 18/23 - 1
11-18309188-A-G c.2611T>C p.F871L Missense 18/23 - 1
11-18309189-G-C c.2610C>G p.F870L Missense 18/23 - 1
11-18309189-G-T c.2610C>A p.F870L Missense 18/23 - 1
11-18309191-A-G c.2608T>C p.F870L Missense 18/23 - 1
11-18309200-A-G c.2599T>C p.L867= Synonymous 18/23 - 1
11-18309205-C-T c.2594G>A p.R865Q Missense 18/23 - 5
11-18309206-G-A c.2593C>T p.R865* Nonsense 18/23 - 6
11-18309207-AAGAGC-A c.2587_2591del p.A863Sfs*25 Frameshift 18/23 - 1
11-18309221-C-T c.2578G>A p.G860R Missense 18/23 - 1
11-18309227-T-TA c.2571_2572insT p.K858* Nonsense 18/23 - 1
11-18309236-A-G c.2563T>C p.L855= Synonymous 18/23 - 1
11-18309423-T-TA c.2561+16dup - IntronicInsertion - 17/22 1
11-18309441-G-A c.2560C>T p.R854W Missense 17/23 - 7
11-18309455-A-G c.2546T>C p.V849A Missense 17/23 - 1
11-18309463-C-A c.2538G>T p.P846= Synonymous 17/23 - 1
11-18309463-C-G c.2538G>C p.P846= Synonymous 17/23 - 1
11-18309463-C-T c.2538G>A p.P846= Synonymous 17/23 - 1
11-18309464-G-A c.2537C>T p.P846L Missense 17/23 - 3
11-18309470-T-G c.2531A>C p.D844A Missense 17/23 - 1
11-18309471-C-T c.2530G>A p.D844N Missense 17/23 - 1
11-18309476-G-A c.2525C>T p.P842L Missense 17/23 - 3
11-18309477-G-C c.2524C>G p.P842A Missense 17/23 - 1
11-18309480-C-A c.2521G>T p.V841F Missense 17/23 - 1
11-18309480-C-T c.2521G>A p.V841I Missense 17/23 - 2
11-18309483-C-T c.2518G>A p.E840K Missense 17/23 - 3
11-18309492-G-A c.2509C>T p.L837= Synonymous 17/23 - 1
11-18309495-A-C c.2506T>G p.L836V Missense 17/23 - 1
11-18309506-G-A c.2495C>T p.T832I Missense 17/23 - 1
11-18309510-G-A c.2491C>T p.P831S Missense 17/23 - 1
11-18309520-T-A c.2481A>T p.K827N Missense 17/23 - 4
11-18309524-T-C c.2477A>G p.E826G Missense 17/23 - 1
11-18309532-C-T c.2469G>A p.M823I Missense 17/23 - 1
11-18309540-C-A c.2461G>T p.V821L Missense 17/23 - 3
11-18309540-C-G c.2461G>C p.V821L Missense 17/23 - 2
11-18309543-G-A c.2458C>T p.P820S Missense 17/23 - 6
11-18309543-G-C c.2458C>G p.P820A Missense 17/23 - 2
11-18309546-T-C c.2455A>G p.N819D Missense 17/23 - 1
11-18309548-GA-CG c.2452_2453delinsCG p.S818R Missense 17/23 - 1
11-18309555-C-T c.2446G>A p.A816T Missense 17/23 - 1
11-18309700-A-G c.2441-140T>C - IntronicSNV - 16/22 2
11-18312953-G-A c.2440+36C>T - IntronicSNV - 16/22 11
11-18312953-G-T c.2440+36C>A - IntronicSNV - 16/22 6
11-18312993-C-A c.2436G>T p.L812F Missense 16/23 - 3
11-18313003-A-G c.2426T>C p.I809T Missense 16/23 - 1
11-18313019-C-T c.2410G>A p.V804I Missense 16/23 - 1
11-18313021-G-T c.2408C>A p.S803Y Missense 16/23 - 2
11-18313024-G-C c.2405C>G p.P802R Missense 16/23 - 1
11-18313026-G-A c.2403C>T p.S801= Synonymous 16/23 - 1
11-18313029-A-C c.2400T>G p.N800K Missense 16/23 - 1
11-18313029-A-T c.2400T>A p.N800K Missense 16/23 - 2
11-18313046-T-G c.2383A>C p.K795Q Missense 16/23 - 1
11-18313049-T-C c.2380A>G p.I794V Missense 16/23 - 1
11-18313050-A-G c.2379T>C p.S793= Synonymous 16/23 - 1
11-18313051-C-A c.2378G>T p.S793I Missense 16/23 - 5
11-18313051-CT-AG c.2377_2378inv p.S793L Missense 16/23 - 1
11-18313056-C-T c.2373G>A p.K791= Synonymous 16/23 - 1
11-18313060-G-A c.2369C>T p.A790V Missense 16/23 - 2
11-18313060-G-C c.2369C>G p.A790G Missense 16/23 - 1
11-18313069-A-C c.2360T>G p.L787W Missense 16/23 - 1
11-18313077-G-A c.2352C>T p.L784= Synonymous 16/23 - 1
11-18313077-G-C c.2352C>G p.L784= Synonymous 16/23 - 1
11-18313077-G-T c.2352C>A p.L784= Synonymous 16/23 - 1
11-18313087-T-G c.2342A>C p.Y781S Missense 16/23 - 1
11-18313094-T-G c.2335A>C p.K779Q Missense 16/23 - 1
11-18313095-C-T c.2334G>A p.L778= Synonymous 16/23 - 1
11-18313103-G-A c.2326C>T p.Q776* Nonsense 16/23 - 1
11-18313117-T-G c.2312A>C p.E771A Missense 16/23 - 1
11-18313118-C-T c.2311G>A p.E771K Missense 16/23 - 1
11-18313123-G-A c.2306C>T p.S769F Missense 16/23 - 2
11-18313126-T-C c.2303A>G p.Y768C Missense 16/23 - 1
11-18313127-A-G c.2302T>C p.Y768H Missense 16/23 - 1
11-18313146-C-CA c.2282dup p.D762Gfs*10 Frameshift 16/23 - 1
11-18313152-T-C c.2277A>G p.G759= Synonymous 16/23 - 1
11-18313159-G-T c.2270C>A p.T757N Missense 16/23 - 1
11-18313160-T-C c.2269A>G p.T757A Missense 16/23 - 2
11-18313170-C-A c.2259G>T p.K753N Missense 16/23 - 1
11-18313170-C-G c.2259G>C p.K753N Missense 16/23 - 1
11-18313173-A-G c.2256T>C p.S752= Synonymous 16/23 - 2
11-18313174-G-C c.2255C>G p.S752C Missense 16/23 - 1
11-18313174-G-T c.2255C>A p.S752Y Missense 16/23 - 1
11-18313184-C-A c.2245G>T p.V749L Missense 16/23 - 1
11-18313188-C-T c.2241G>A p.L747= Synonymous 16/23 - 1
11-18313195-A-G c.2234T>C p.L745S Missense 16/23 - 1
11-18313197-A-T c.2232T>A p.C744* Nonsense 16/23 - 1
11-18313207-G-A c.2222C>T p.T741I Missense 16/23 - 1
11-18313210-A-G c.2219T>C p.L740S Missense 16/23 - 2
11-18313218-C-CA c.2210dup p.A738Gfs*2 Frameshift 16/23 - 1
11-18313224-G-A c.2205C>T p.N735= Synonymous 16/23 - 2
11-18313229-G-A c.2200C>T p.R734W Missense 16/23 - 1
11-18313236-A-G c.2193T>C p.S731= Synonymous 16/23 - 1
11-18313238-T-C c.2191A>G p.S731G Missense 16/23 - 3
11-18313241-C-T c.2188G>A p.A730T Missense 16/23 - 1
11-18313244-T-C c.2185A>G p.I729V Missense 16/23 - 1
11-18313246-G-A c.2183C>T p.A728V Missense 16/23 - 1
11-18313247-C-T c.2182G>A p.A728T Missense 16/23 - 1
11-18313248-G-A c.2181C>T p.C727= Synonymous 16/23 - 2
11-18313250-A-G c.2179T>C p.C727R Missense 16/23 - 1
11-18313255-G-A c.2174C>T p.S725F Missense 16/23 - 1
11-18313260-T-C c.2169A>G p.I723M Missense 16/23 - 1
11-18313264-T-C c.2165A>G p.Q722R Missense 16/23 - 1
11-18313265-G-C c.2164C>G p.Q722E Missense 16/23 - 1
11-18313267-A-C c.2162T>G p.F721C Missense 16/23 - 1
11-18313271-G-T c.2158C>A p.L720M Missense 16/23 - 1
11-18313277-C-T c.2152G>A p.D718N Missense 16/23 - 1
11-18313287-C-T c.2142G>A p.R714= Synonymous 16/23 - 1
11-18313289-T-G c.2140A>C p.R714= Synonymous 16/23 - 1
11-18313288-C-G c.2141G>C p.R714T Missense 16/23 - 1
11-18313300-A-G c.2129T>C p.V710A Missense 16/23 - 1
11-18313312-G-A c.2117C>T p.A706V Missense 16/23 - 1
11-18313313-C-T c.2116G>A p.A706T Missense 16/23 - 1
11-18313325-C-T c.2104G>A p.V702I Missense 16/23 - 1
11-18313326-A-G c.2103T>C p.S701= Synonymous 16/23 - 1
11-18313334-C-T c.2095G>A p.E699K Missense 16/23 - 4
11-18313344-A-C c.2085T>G p.S695= Synonymous 16/23 - 1
11-18313344-A-G c.2085T>C p.S695= Synonymous 16/23 - 1
11-18313344-A-T c.2085T>A p.S695= Synonymous 16/23 - 1
11-18313345-G-A c.2084C>T p.S695F Missense 16/23 - 1
11-18313351-C-T c.2078G>A p.R693K Missense 16/23 - 1
11-18313351-C-CT c.2077dup p.R693Kfs*7 Frameshift 16/23 - 1
11-18313351-CT-C c.2077del p.R693Gfs*4 Frameshift 16/23 - 2
11-18313373-C-T c.2056G>A p.E686K Missense 16/23 - 3
11-18313376-C-A c.2053G>T p.D685Y Missense 16/23 - 3
11-18313376-C-G c.2053G>C p.D685H Missense 16/23 - 1
11-18313391-T-C c.2038A>G p.K680E Missense 16/23 - 1
11-18313393-G-A c.2036C>T p.S679L Missense 16/23 - 1
11-18313393-G-C c.2036C>G p.S679* Nonsense 16/23 - 1
11-18313393-G-T c.2036C>A p.S679* Nonsense 16/23 - 2
11-18313399-TTAAC-T c.2026_2029del p.V676Mfs*8 Frameshift 16/23 - 3
11-18313412-C-T c.2017G>A p.V673M Missense 16/23 - 1
11-18313427-T-C c.2002A>G p.K668E Missense 16/23 - 1
11-18313428-C-A c.2001G>T p.M667I Missense 16/23 - 4
11-18313428-C-G c.2001G>C p.M667I Missense 16/23 - 2
11-18313428-C-T c.2001G>A p.M667I Missense 16/23 - 2
11-18313429-A-G c.2000T>C p.M667T Missense 16/23 - 1
11-18313430-T-C c.1999A>G p.M667V Missense 16/23 - 1
11-18313432-G-A c.1997C>T p.S666F Missense 16/23 - 1
11-18313438-T-C c.1991A>G p.N664S Missense 16/23 - 2
11-18313440-G-A c.1989C>T p.D663= Synonymous 16/23 - 1
11-18313442-C-G c.1987G>C p.D663H Missense 16/23 - 1
11-18313456-C-A c.1973G>T p.G658V Missense 16/23 - 1
11-18313457-C-A c.1972G>T p.G658C Missense 16/23 - 2
11-18313458-TG-AA c.1970_1971delinsTT p.S657F Missense 16/23 - 1
11-18313462-A-G c.1967T>C p.F656S Missense 16/23 - 1
11-18313465-T-C c.1964A>G p.D655G Missense 16/23 - 1
11-18313467-C-A c.1962G>T p.K654N Missense 16/23 - 2
11-18313467-C-G c.1962G>C p.K654N Missense 16/23 - 2
11-18313469-T-A c.1960A>T p.K654* Nonsense 16/23 - 1
11-18313472-T-A c.1957A>T p.M653L Missense 16/23 - 1
11-18313472-T-C c.1957A>G p.M653V Missense 16/23 - 1
11-18313473-G-A c.1956C>T p.A652= Synonymous 16/23 - 1
11-18313473-G-C c.1956C>G p.A652= Synonymous 16/23 - 1
11-18313473-G-T c.1956C>A p.A652= Synonymous 16/23 - 1
11-18313474-G-A c.1955C>T p.A652V Missense 16/23 - 3
11-18313474-G-C c.1955C>G p.A652G Missense 16/23 - 1
11-18313483-T-G c.1946A>C p.K649T Missense 16/23 - 1
11-18313489-A-G c.1940T>C p.L647S Missense 16/23 - 1
11-18313499-G-A c.1930C>T p.L644F Missense 16/23 - 2
11-18313522-A-C c.1907T>G p.L636R Missense 16/23 - 1
11-18313522-A-G c.1907T>C p.L636P Missense 16/23 - 1
11-18313525-G-A c.1904C>T p.S635F Missense 16/23 - 2
11-18313529-C-A c.1900G>T p.E634* Nonsense 16/23 - 1
11-18313529-C-T c.1900G>A p.E634K Missense 16/23 - 5
11-18313529-TC-T c.1900del p.E634Sfs*3 Frameshift 16/23 - 1
11-18313531-G-A c.1898C>T p.S633F Missense 16/23 - 1
11-18313535-C-A c.1894G>T p.E632* Nonsense 16/23 - 1
11-18313537-A-G c.1892T>C p.F631S Missense 16/23 - 1
11-18313539-TAA-T c.1888_1889del p.L630Ifs*2 Frameshift 16/23 - 1
11-18313546-A-T c.1883T>A p.L628Q Missense 16/23 - 1
11-18313555-T-C c.1874A>G p.Q625R Missense 16/23 - 3
11-18313556-G-A c.1873C>T p.Q625* Nonsense 16/23 - 2
11-18313558-A-C c.1871T>G p.L624R Missense 16/23 - 2
11-18313563-G-A c.1866C>T p.T622= Synonymous 16/23 - 1
11-18313563-G-C c.1866C>G p.T622= Synonymous 16/23 - 1
11-18313563-G-T c.1866C>A p.T622= Synonymous 16/23 - 1
11-18313566-C-T c.1863G>A p.M621I Missense 16/23 - 1
11-18313911-A-C c.1863-345T>G - IntronicSNV - 15/22 1
11-18314359-G-A c.1862+87C>T - IntronicSNV - 15/22 1
11-18314458-G-A c.1850C>T p.T617I Missense 15/23 - 4
11-18314471-G-T c.1837C>A p.L613I Missense 15/23 - 2
11-18314481-C-A c.1827G>T p.R609S Missense 15/23 - 1
11-18314481-C-G c.1827G>C p.R609S Missense 15/23 - 1
11-18314485-T-C c.1823A>G p.D608G Missense 15/23 - 1
11-18314486-C-A c.1822G>T p.D608Y Missense 15/23 - 1
11-18314492-C-T c.1816G>A p.E606K Missense 15/23 - 1
11-18314493-T-A c.1815A>T p.P605= Synonymous 15/23 - 2
11-18314494-G-T c.1814C>A p.P605Q Missense 15/23 - 3
11-18314495-G-A c.1813C>T p.P605S Missense 15/23 - 1
11-18314498-G-A c.1810C>T p.P604S Missense 15/23 - 1
11-18314501-G-A c.1807C>T p.P603S Missense 15/23 - 2
11-18314503-C-G c.1805G>C p.S602T Missense 15/23 - 1
11-18314503-C-T c.1805G>A p.S602N Missense 15/23 - 2
11-18314504-T-TA c.1803dup p.S602* Nonsense 15/23 - 1
11-18314515-T-G c.1793A>C p.K598T Missense 15/23 - 1
11-18314518-T-C c.1790A>G p.E597G Missense 15/23 - 3
11-18314519-C-G c.1789G>C p.E597Q Missense 15/23 - 1
11-18314579-C-CTTT c.1785-59_1785-57dup - IntronicInsertion - 14/22 5
11-18314579-C-CTT c.1785-58_1785-57dup - IntronicInsertion - 14/22 5
11-18314579-C-CT c.1785-57dup - IntronicInsertion - 14/22 5
11-18314865-A-G c.1785-342T>C - IntronicSNV - 14/22 1
11-18314865-A-T c.1785-342T>A - IntronicSNV - 14/22 1
11-18316420-T-C c.1784+147A>G - IntronicSNV - 14/22 1
11-18316429-G-A c.1784+138C>T - IntronicSNV - 14/22 1
11-18316429-G-C c.1784+138C>G - IntronicSNV - 14/22 1
11-18316560-G-A c.1784+7C>T - IntronicSNV - 14/22 1
11-18316570-G-A c.1781C>T p.T594I Missense 14/23 - 1
11-18316571-T-C c.1780A>G p.T594A Missense 14/23 - 1
11-18316577-C-T c.1774G>A p.E592K Missense 14/23 - 1
11-18316582-T-G c.1769A>C p.K590T Missense 14/23 - 2
11-18316586-G-T c.1765C>A p.P589T Missense 14/23 - 1
11-18316587-G-A c.1764C>T p.C588= Synonymous 14/23 - 1
11-18316591-G-A c.1760C>T p.T587I Missense 14/23 - 1
11-18316606-T-A c.1745A>T p.D582V Missense 14/23 - 1
11-18316607-C-A c.1744G>T p.D582Y Missense 14/23 - 1
11-18316609-T-C c.1742A>G p.E581G Missense 14/23 - 1
11-18316615-C-G c.1736G>C p.C579S Missense 14/23 - 1
11-18316616-CA-C c.1735del p.C579Vfs*5 Frameshift 14/23 - 1
11-18316622-G-T c.1729C>A p.Q577K Missense 14/23 - 1
11-18316624-T-C c.1727A>G p.E576G Missense 14/23 - 1
11-18316627-T-A c.1724A>T p.D575V Missense 14/23 - 1
11-18316627-T-C c.1724A>G p.D575G Missense 14/23 - 1
11-18316631-C-T c.1720G>A p.G574S Missense 14/23 - 1
11-18316633-CT-TG c.1717_1718delinsCA p.R573Q Missense 14/23 - 1
11-18316634-T-C c.1717A>G p.R573G Missense 14/23 - 1
11-18316635-G-A c.1716C>T p.L572= Synonymous 14/23 - 1
11-18316635-G-C c.1716C>G p.L572= Synonymous 14/23 - 1
11-18316635-G-T c.1716C>A p.L572= Synonymous 14/23 - 1
11-18316638-C-A c.1713G>T p.E571D Missense 14/23 - 1
11-18316643-G-T c.1708C>A p.P570T Missense 14/23 - 2
11-18316644-TCT-ACA c.1705_1707delinsTGT p.R569C Missense 14/23 - 1
11-18316650-T-A c.1701A>T p.K567N Missense 14/23 - 1
11-18316650-T-G c.1701A>C p.K567N Missense 14/23 - 1
11-18316660-G-A c.1691C>T p.P564L Missense 14/23 - 1
11-18316661-G-A c.1690C>T p.P564S Missense 14/23 - 1
11-18316664-T-G c.1687A>C p.S563R Missense 14/23 - 1
11-18316666-G-A c.1685C>T p.T562M Missense 14/23 - 2
11-18316666-G-C c.1685C>G p.T562R Missense 14/23 - 1
11-18316672-A-G c.1679T>C p.L560P Missense 14/23 - 1
11-18316673-G-A c.1678C>T p.L560F Missense 14/23 - 1
11-18316678-C-A c.1673G>T p.G558V Missense 14/23 - 1
11-18316688-C-T c.1663G>A p.E555K Missense 14/23 - 4
11-18316699-C-T c.1652G>A p.R551H Missense 14/23 - 2
11-18316700-G-A c.1651C>T p.R551C Missense 14/23 - 1
11-18316700-G-C c.1651C>G p.R551G Missense 14/23 - 1
11-18316701-C-T c.1650G>A p.V550= Synonymous 14/23 - 1
11-18316703-C-T c.1648G>A p.V550M Missense 14/23 - 1
11-18316708-CT-AA c.1642_1643delinsTT p.S548F Missense 14/23 - 1
11-18316711-G-C c.1640C>G p.S547C Missense 14/23 - 1
11-18316715-C-A c.1636G>T p.V546F Missense 14/23 - 2
11-18316720-G-C c.1635-4C>G - IntronicSNV - 13/22 2
11-18317458-T-A c.1634+88A>T - IntronicSNV - 13/22 10
11-18317544-A-C c.1634+2T>G - IntronicSNV - 13/22 1
11-18317545-C-T c.1634+1G>A - IntronicSNV - 13/22 2
11-18317547-T-C c.1633A>G p.S545G Missense 13/23 - 1
11-18317552-T-A c.1628A>T p.K543I Missense 13/23 - 1
11-18317559-C-A c.1621G>T p.A541S Missense 13/23 - 1
11-18317559-C-G c.1621G>C p.A541P Missense 13/23 - 1
11-18317562-G-A c.1618C>T p.Q540* Nonsense 13/23 - 2
11-18317567-G-A c.1613C>T p.S538F Missense 13/23 - 1
11-18317567-G-T c.1613C>A p.S538Y Missense 13/23 - 2
11-18317568-A-G c.1612T>C p.S538P Missense 13/23 - 1
11-18317571-C-A c.1609G>T p.V537L Missense 13/23 - 2
11-18317571-C-G c.1609G>C p.V537L Missense 13/23 - 1
11-18317585-G-A c.1595C>T p.S532F Missense 13/23 - 1
11-18317586-A-G c.1594T>C p.S532P Missense 13/23 - 1
11-18317588-C-T c.1592G>A p.R531H Missense 13/23 - 1
11-18317589-G-A c.1591C>T p.R531C Missense 13/23 - 4
11-18317594-G-A c.1586C>T p.P529L Missense 13/23 - 1
11-18317599-AT-A c.1581del p.L528Yfs*39 Frameshift 13/23 - 1
11-18317607-C-G c.1573G>C p.G525R Missense 13/23 - 1
11-18317611-C-A c.1569G>T p.P523= Synonymous 13/23 - 1
11-18317611-C-G c.1569G>C p.P523= Synonymous 13/23 - 1
11-18317611-C-T c.1569G>A p.P523= Synonymous 13/23 - 1
11-18317612-G-A c.1568C>T p.P523L Missense 13/23 - 2
11-18317616-G-T c.1564C>A p.L522I Missense 13/23 - 1
11-18317619-A-C c.1561T>G p.F521V Missense 13/23 - 1
11-18317622-T-G c.1558A>C p.T520P Missense 13/23 - 1
11-18317629-C-A c.1551G>T p.K517N Missense 13/23 - 1
11-18317629-C-G c.1551G>C p.K517N Missense 13/23 - 1
11-18317630-T-G c.1550A>C p.K517T Missense 13/23 - 1
11-18317640-C-G c.1540G>C p.E514Q Missense 13/23 - 3
11-18317644-C-T c.1536G>A p.M512I Missense 13/23 - 1
11-18317657-T-A c.1523A>T p.H508L Missense 13/23 - 1
11-18317663-A-G c.1517T>C p.V506A Missense 13/23 - 1
11-18317666-T-C c.1514A>G p.N505S Missense 13/23 - 1
11-18317669-T-C c.1511A>G p.D504G Missense 13/23 - 2
11-18317673-A-C c.1511-4T>G - IntronicSNV - 12/22 1
11-18317699-C-A c.1511-30G>T - IntronicSNV - 12/22 11
11-18317699-C-T c.1511-30G>A - IntronicSNV - 12/22 11
11-18317864-C-A c.1511-195G>T - IntronicSNV - 12/22 2
11-18318287-G-A c.1510+58C>T - IntronicSNV - 12/22 2
11-18318330-A-C c.1510+15T>G - IntronicSNV - 12/22 1
11-18318330-A-G c.1510+15T>C - IntronicSNV - 12/22 1
11-18318342-C-T c.1510+3G>A - IntronicSNV - 12/22 1
11-18318347-T-C c.1508A>G p.E503G Missense 12/23 - 1
11-18318348-C-A c.1507G>T p.E503* Nonsense 12/23 - 1
11-18318348-C-T c.1507G>A p.E503K Missense 12/23 - 1
11-18318353-C-A c.1502G>T p.G501V Missense 12/23 - 2
11-18318354-C-G c.1501G>C p.G501R Missense 12/23 - 2
11-18318354-C-T c.1501G>A p.G501R Missense 12/23 - 5
11-18318355-G-A c.1500C>T p.H500= Synonymous 12/23 - 2
11-18318357-G-T c.1498C>A p.H500N Missense 12/23 - 1
11-18318359-G-A c.1496C>T p.S499L Missense 12/23 - 1
11-18318365-C-T c.1490G>A p.C497Y Missense 12/23 - 1
11-18318368-C-T c.1487G>A p.C496Y Missense 12/23 - 1
11-18318369-A-G c.1486T>C p.C496R Missense 12/23 - 1
11-18318370-C-G c.1485G>C p.Q495H Missense 12/23 - 1
11-18318375-C-T c.1480G>A p.D494N Missense 12/23 - 1
11-18318376-T-C c.1479A>G p.P493= Synonymous 12/23 - 1
11-18318378-G-A c.1477C>T p.P493S Missense 12/23 - 1
11-18318379-C-T c.1476G>A p.L492= Synonymous 12/23 - 1
11-18318380-A-G c.1475T>C p.L492P Missense 12/23 - 1
11-18318380-A-T c.1475T>A p.L492Q Missense 12/23 - 1
11-18318390-C-A c.1465G>T p.E489* Nonsense 12/23 - 2
11-18318390-C-T c.1465G>A p.E489K Missense 12/23 - 1
11-18318396-G-C c.1459C>G p.Q487E Missense 12/23 - 1
11-18318401-G-A c.1454C>T p.T485I Missense 12/23 - 1
11-18318407-T-G c.1448A>C p.E483A Missense 12/23 - 1
11-18318408-C-A c.1447G>T p.E483* Nonsense 12/23 - 5
11-18318408-C-T c.1447G>A p.E483K Missense 12/23 - 1
11-18318415-T-A c.1440A>T p.R480S Missense 12/23 - 1
11-18318415-T-G c.1440A>C p.R480S Missense 12/23 - 1
11-18318416-CT-AG c.1438_1439inv p.R480L Missense 12/23 - 1
11-18318430-G-C c.1425C>G p.L475= Synonymous 12/23 - 1
11-18318431-AG-CT c.1423_1424inv p.L475S Missense 12/23 - 1
11-18318432-G-C c.1423C>G p.L475V Missense 12/23 - 1
11-18318433-G-A c.1422C>T p.T474= Synonymous 12/23 - 1
11-18318433-G-C c.1422C>G p.T474= Synonymous 12/23 - 1
11-18318433-G-T c.1422C>A p.T474= Synonymous 12/23 - 1
11-18318431-AG-A c.1423del p.L475Sfs*37 Frameshift 12/23 - 3
11-18318434-G-A c.1421C>T p.T474I Missense 12/23 - 1
11-18318436-T-G c.1419A>C p.Q473H Missense 12/23 - 1
11-18318438-G-A c.1417C>T p.Q473* Nonsense 12/23 - 2
11-18318439-G-A c.1416C>T p.S472= Synonymous 12/23 - 1
11-18318444-G-A c.1411C>T p.H471Y Missense 12/23 - 2
11-18318447-G-A c.1408C>T p.L470F Missense 12/23 - 1
11-18318449-G-C c.1406C>G p.S469C Missense 12/23 - 2
11-18318451-G-A c.1404C>T p.C468= Synonymous 12/23 - 1
11-18318455-GA-TT c.1399_1400delinsAA p.S467N Missense 12/23 - 1
11-18318459-C-G c.1396G>C p.D466H Missense 12/23 - 1
11-18318467-G-A c.1388C>T p.S463L Missense 12/23 - 1
11-18318476-C-A c.1379G>T p.G460V Missense 12/23 - 2
11-18318477-C-A c.1378G>T p.G460C Missense 12/23 - 1
11-18318478-TCT-CCA c.1375_1377delinsTGG p.R459W Missense 12/23 - 1
11-18318481-TCT-ATG c.1372_1374delinsCAT p.R458H Missense 12/23 - 1
11-18318485-CT-AG c.1369_1370inv p.S457L Missense 12/23 - 1
11-18318498-G-A c.1357C>T p.R453C Missense 12/23 - 2
11-18318508-A-C c.1347T>G p.S449= Synonymous 12/23 - 1
11-18318508-A-G c.1347T>C p.S449= Synonymous 12/23 - 1
11-18318508-A-T c.1347T>A p.S449= Synonymous 12/23 - 1
11-18318512-T-C c.1343A>G p.D448G Missense 12/23 - 1
11-18318513-C-A c.1342G>T p.D448Y Missense 12/23 - 2
11-18318514-C-A c.1341G>T p.L447F Missense 12/23 - 1
11-18318514-C-G c.1341G>C p.L447F Missense 12/23 - 1
11-18318516-A-T c.1339T>A p.L447M Missense 12/23 - 1
11-18318517-G-C c.1338C>G p.I446M Missense 12/23 - 2
11-18318519-T-C c.1336A>G p.I446V Missense 12/23 - 1
11-18318521-C-T c.1334G>A p.S445N Missense 12/23 - 1
11-18318522-T-C c.1333A>G p.S445G Missense 12/23 - 1
11-18318523-G-A c.1332C>T p.F444= Synonymous 12/23 - 1
11-18318529-T-G c.1326A>C p.E442D Missense 12/23 - 1
11-18318550-C-A c.1324-19G>T - IntronicSNV - 11/22 1
11-18319109-TG-AT c.1319_1320delinsAT p.S440Y Missense 11/23 - 1
11-18319117-T-C c.1312A>G p.I438V Missense 11/23 - 1
11-18319120-A-C c.1309T>G p.S437A Missense 11/23 - 1
11-18319122-CT-AA c.1306_1307delinsTT p.S436F Missense 11/23 - 1
11-18319125-C-T c.1304G>A p.R435K Missense 11/23 - 1
11-18319137-CA-GT c.1291_1292delinsAC p.C431T Missense 11/23 - 1
11-18319137-C-G c.1292G>C p.C431S Missense 11/23 - 1
11-18319137-C-T c.1292G>A p.C431Y Missense 11/23 - 1
11-18319143-G-A c.1286C>T p.S429L Missense 11/23 - 1
11-18319156-C-T c.1273G>A p.E425K Missense 11/23 - 1
11-18319166-G-T c.1263C>A p.I421= Synonymous 11/23 - 1
11-18319175-T-C c.1254A>G p.E418= Synonymous 11/23 - 2
11-18319177-C-T c.1252G>A p.E418K Missense 11/23 - 2
11-18319180-G-A c.1249C>T p.L417= Synonymous 11/23 - 8
11-18319180-G-T c.1249C>A p.L417M Missense 11/23 - 20
11-18319181-T-G c.1248A>C p.Q416H Missense 11/23 - 1
11-18319183-G-C c.1246C>G p.Q416E Missense 11/23 - 1
11-18319185-G-A c.1244C>T p.S415F Missense 11/23 - 1
11-18319191-A-G c.1238T>C p.L413P Missense 11/23 - 1
11-18319197-T-A c.1232A>T p.N411I Missense 11/23 - 1
11-18319197-T-C c.1232A>G p.N411S Missense 11/23 - 2
11-18319198-T-C c.1231A>G p.N411D Missense 11/23 - 1
11-18319201-A-C c.1228T>G p.Y410D Missense 11/23 - 1
11-18319202-G-T c.1227C>A p.T409= Synonymous 11/23 - 1
11-18319203-G-A c.1226C>T p.T409I Missense 11/23 - 1
11-18319210-G-A c.1219C>T p.H407Y Missense 11/23 - 1
11-18319217-C-A c.1212G>T p.Q404H Missense 11/23 - 1
11-18319221-G-A c.1208C>T p.S403F Missense 11/23 - 2
11-18319232-C-T c.1197G>A p.E399= Synonymous 11/23 - 1
11-18319240-T-A c.1189A>T p.K397* Nonsense 11/23 - 1
11-18319248-G-A c.1181C>T p.T394I Missense 11/23 - 1
11-18319250-C-A c.1179G>T p.L393F Missense 11/23 - 1
11-18319250-C-G c.1179G>C p.L393F Missense 11/23 - 1
11-18319255-T-C c.1174A>G p.T392A Missense 11/23 - 1
11-18319259-TCT-CCA c.1168_1170delinsTGG p.R390W Missense 11/23 - 1
11-18319260-C-T c.1169G>A p.R390K Missense 11/23 - 1
11-18319260-CT-TG c.1168_1169delinsCA p.R390Q Missense 11/23 - 1
11-18319261-T-A c.1168A>T p.R390* Nonsense 11/23 - 1
11-18319279-G-T c.1165-15C>A - IntronicSNV - 10/22 2
11-18319559-A-G c.1165-295T>C - IntronicSNV - 10/22 1
11-18319559-A-T c.1165-295T>A - IntronicSNV - 10/22 1
11-18320340-C-G c.1163G>C p.R388T Missense 10/23 - 1
11-18320341-T-C c.1162A>G p.R388G Missense 10/23 - 1
11-18320343-C-A c.1160G>T p.S387I Missense 10/23 - 1
11-18320353-C-A c.1150G>T p.V384F Missense 10/23 - 1
11-18320353-C-T c.1150G>A p.V384I Missense 10/23 - 1
11-18320363-G-T c.1140C>A p.F380L Missense 10/23 - 1
11-18320379-C-T c.1124G>A p.R375H Missense 10/23 - 1
11-18320380-G-A c.1123C>T p.R375C Missense 10/23 - 1
11-18320382-G-A c.1121C>T p.A374V Missense 10/23 - 1
11-18320382-G-C c.1121C>G p.A374G Missense 10/23 - 1
11-18320386-C-A c.1117G>T p.A373S Missense 10/23 - 2
11-18320386-C-G c.1117G>C p.A373P Missense 10/23 - 1
11-18320386-C-T c.1117G>A p.A373T Missense 10/23 - 1
11-18320391-T-A c.1112A>T p.N371I Missense 10/23 - 1
11-18320394-C-A c.1109G>T p.W370L Missense 10/23 - 1
11-18320396-T-A c.1107A>T p.L369= Synonymous 10/23 - 1
11-18320396-T-C c.1107A>G p.L369= Synonymous 10/23 - 1
11-18320396-T-G c.1107A>C p.L369= Synonymous 10/23 - 1
11-18320398-G-A c.1105C>T p.L369= Synonymous 10/23 - 1
11-18320403-CT-TG c.1099_1100delinsCA p.R367Q Missense 10/23 - 2
11-18320406-C-A c.1097G>T p.R366I Missense 10/23 - 1
11-18320408-T-A c.1095A>T p.L365= Synonymous 10/23 - 1
11-18320408-T-C c.1095A>G p.L365= Synonymous 10/23 - 1
11-18320408-T-G c.1095A>C p.L365= Synonymous 10/23 - 1
11-18320410-G-A c.1093C>T p.L365= Synonymous 10/23 - 1
11-18320415-C-A c.1088G>T p.R363L Missense 10/23 - 1
11-18320415-C-T c.1088G>A p.R363H Missense 10/23 - 2
11-18320416-G-A c.1087C>T p.R363C Missense 10/23 - 4
11-18320416-G-T c.1087C>A p.R363S Missense 10/23 - 1
11-18320423-A-G c.1080T>C p.C360= Synonymous 10/23 - 1
11-18320425-A-G c.1078T>C p.C360R Missense 10/23 - 1
11-18320427-C-T c.1076G>A p.R359H Missense 10/23 - 1
11-18320428-G-A c.1075C>T p.R359C Missense 10/23 - 1
11-18320432-C-T c.1071G>A p.V357= Synonymous 10/23 - 1
11-18320436-G-T c.1067C>A p.S356Y Missense 10/23 - 1
11-18320439-A-T c.1064T>A p.I355K Missense 10/23 - 1
11-18320440-T-A c.1063A>T p.I355L Missense 10/23 - 1
11-18320444-G-A c.1059C>T p.S353= Synonymous 10/23 - 1
11-18320444-G-C c.1059C>G p.S353= Synonymous 10/23 - 1
11-18320444-G-T c.1059C>A p.S353= Synonymous 10/23 - 1
11-18320445-G-A c.1058C>T p.S353F Missense 10/23 - 1
11-18320446-A-C c.1057T>G p.S353A Missense 10/23 - 1
11-18320447-G-A c.1056C>T p.L352= Synonymous 10/23 - 1
11-18320447-G-C c.1056C>G p.L352= Synonymous 10/23 - 1
11-18320447-G-T c.1056C>A p.L352= Synonymous 10/23 - 1
11-18320452-G-A c.1051C>T p.H351Y Missense 10/23 - 1
11-18320454-G-A c.1049C>T p.S350L Missense 10/23 - 2
11-18320454-G-C c.1049C>G p.S350* Nonsense 10/23 - 2
11-18320454-G-T c.1049C>A p.S350* Nonsense 10/23 - 1
11-18320456-G-A c.1047C>T p.V349= Synonymous 10/23 - 2
11-18320456-G-C c.1047C>G p.V349= Synonymous 10/23 - 2
11-18320456-G-T c.1047C>A p.V349= Synonymous 10/23 - 2
11-18320457-A-G c.1046T>C p.V349A Missense 10/23 - 2
11-18320463-C-T c.1040G>A p.G347E Missense 10/23 - 1
11-18320464-C-A c.1039G>T p.G347W Missense 10/23 - 1
11-18320466-T-C c.1037A>G p.N346S Missense 10/23 - 1
11-18320469-A-G c.1034T>C p.L345P Missense 10/23 - 1
11-18320475-A-G c.1028T>C p.L343S Missense 10/23 - 1
11-18320474-C-T c.1029G>A p.L343= Synonymous 10/23 - 1
11-18320476-A-G c.1027T>C p.L343= Synonymous 10/23 - 1
11-18320483-C-A c.1020G>T p.L340F Missense 10/23 - 1
11-18320491-T-G c.1012A>C p.N338H Missense 10/23 - 1
11-18320500-C-G c.1003G>C p.V335L Missense 10/23 - 1
11-18320509-C-G c.994G>C p.D332H Missense 10/23 - 1
11-18320512-G-C c.991C>G p.Q331E Missense 10/23 - 1
11-18320557-A-C c.986-40T>G - IntronicSNV - 9/22 1
11-18322373-A-G c.985+2T>C - IntronicSNV - 9/22 1
11-18322388-C-A c.972G>T p.W324C Missense 9/23 - 1
11-18322388-C-G c.972G>C p.W324C Missense 9/23 - 1
11-18322389-C-A c.971G>T p.W324L Missense 9/23 - 1
11-18322390-A-G c.970T>C p.W324R Missense 9/23 - 1
11-18322401-T-C c.959A>G p.Q320R Missense 9/23 - 1
11-18322402-G-C c.958C>G p.Q320E Missense 9/23 - 1
11-18322403-A-C c.957T>G p.V319= Synonymous 9/23 - 1
11-18322403-A-G c.957T>C p.V319= Synonymous 9/23 - 1
11-18322403-A-T c.957T>A p.V319= Synonymous 9/23 - 1
11-18322409-C-T c.951G>A p.Q317= Synonymous 9/23 - 3
11-18322412-A-C c.948T>G p.P316= Synonymous 9/23 - 2
11-18322412-A-G c.948T>C p.P316= Synonymous 9/23 - 2
11-18322412-A-T c.948T>A p.P316= Synonymous 9/23 - 2
11-18322418-G-A c.942C>T p.F314= Synonymous 9/23 - 3
11-18322419-AA-TT c.940_941inv p.F314N Missense 9/23 - 2
11-18322423-T-C c.937A>G p.I313V Missense 9/23 - 1
11-18322431-C-G c.929G>C p.G310A Missense 9/23 - 1
11-18322433-T-A c.927A>T p.R309S Missense 9/23 - 1
11-18322433-TCT-ACA c.925_927delinsTGT p.R309C Missense 9/23 - 1
11-18322433-T-G c.927A>C p.R309S Missense 9/23 - 1
11-18322431-CCT-C c.927_928del p.G310Nfs*16 Frameshift 9/23 - 1
11-18322438-C-G c.922G>C p.E308Q Missense 9/23 - 1
11-18322446-G-C c.914C>G p.T305S Missense 9/23 - 2
11-18322447-T-A c.913A>T p.T305S Missense 9/23 - 3
11-18322449-A-T c.911T>A p.L304Q Missense 9/23 - 2
11-18322457-A-C c.903T>G p.H301Q Missense 9/23 - 4
11-18322457-A-T c.903T>A p.H301Q Missense 9/23 - 2
11-18322515-A-C c.897-52T>G - IntronicSNV - 8/22 1
11-18322515-A-G c.897-52T>C - IntronicSNV - 8/22 1
11-18322545-G-T c.897-82C>A - IntronicSNV - 8/22 5
11-18323316-G-A c.897-853C>T - IntronicSNV - 8/22 1
11-18323316-G-C c.897-853C>G - IntronicSNV - 8/22 1
11-18323316-G-T c.897-853C>A - IntronicSNV - 8/22 1
11-18323517-T-A c.897-1054A>T - IntronicSNV - 8/22 2
11-18323517-T-C c.897-1054A>G - IntronicSNV - 8/22 2
11-18325146-C-G c.896+1823G>C - IntronicSNV - 8/22 8
11-18325146-C-T c.896+1823G>A - IntronicSNV - 8/22 8
11-18326056-G-A c.896+913C>T - IntronicSNV - 8/22 1
11-18326056-G-T c.896+913C>A - IntronicSNV - 8/22 1
11-18326758-C-T c.896+211G>A - IntronicSNV - 8/22 2
11-18326968-C-A c.896+1G>T - IntronicSNV - 8/22 1
11-18326972-A-C c.893T>G p.L298R Missense 8/23 - 1
11-18326976-G-GT c.888dup p.H297Tfs*3 Frameshift 8/23 - 2
11-18326977-T-C c.888A>G p.L296= Synonymous 8/23 - 1
11-18326979-A-G c.886T>C p.L296= Synonymous 8/23 - 1
11-18326980-G-A c.885C>T p.L295= Synonymous 8/23 - 1
11-18326980-G-C c.885C>G p.L295= Synonymous 8/23 - 2
11-18326980-G-T c.885C>A p.L295= Synonymous 8/23 - 1
11-18326985-T-TG c.879dup p.K294Qfs*6 Frameshift 8/23 - 2
11-18326992-A-G c.873T>C p.S291= Synonymous 8/23 - 1
11-18326993-G-A c.872C>T p.S291F Missense 8/23 - 1
11-18326993-G-C c.872C>G p.S291C Missense 8/23 - 1
11-18326996-A-G c.869T>C p.L290S Missense 8/23 - 2
11-18327000-A-T c.865T>A p.S289T Missense 8/23 - 2
11-18327003-G-A c.862C>T p.Q288* Nonsense 8/23 - 1
11-18327005-G-A c.860C>T p.S287F Missense 8/23 - 1
11-18327005-GA-CC c.859_860delinsGG p.S287G Missense 8/23 - 1
11-18327008-GA-CG c.856_857delinsCG p.S286R Missense 8/23 - 1
11-18327008-GA-TT c.856_857delinsAA p.S286N Missense 8/23 - 1
11-18327008-G-C c.857C>G p.S286C Missense 8/23 - 1
11-18327012-C-A c.853G>T p.G285* Nonsense 8/23 - 1
11-18327012-C-G c.853G>C p.G285R Missense 8/23 - 1
11-18327013-A-C c.852T>G p.A284= Synonymous 8/23 - 1
11-18327014-G-T c.851C>A p.A284D Missense 8/23 - 1
11-18327015-C-T c.850G>A p.A284T Missense 8/23 - 1
11-18327021-G-A c.844C>T p.H282Y Missense 8/23 - 2
11-18327024-C-A c.841G>T p.D281Y Missense 8/23 - 1
11-18327024-C-G c.841G>C p.D281H Missense 8/23 - 2
11-18327027-A-G c.838T>C p.Y280H Missense 8/23 - 1
11-18327033-G-C c.832C>G p.P278A Missense 8/23 - 1
11-18327036-C-G c.829G>C p.E277Q Missense 8/23 - 1
11-18327038-G-A c.827C>T p.S276L Missense 8/23 - 1
11-18327248-C-T c.825-208G>A - IntronicSNV - 7/22 1
11-18327324-C-A c.825-284G>T - IntronicSNV - 7/22 3
11-18327324-C-G c.825-284G>C - IntronicSNV - 7/22 3
11-18327324-C-T c.825-284G>A - IntronicSNV - 7/22 3
11-18327515-CAA-C c.824+166_824+167del - IntronicDeletion - 7/22 1
11-18327648-T-G c.824+34A>C - IntronicSNV - 7/22 2
11-18327684-G-A c.822C>T p.L274= Synonymous 7/23 - 3
11-18327684-G-C c.822C>G p.L274= Synonymous 7/23 - 26
11-18327684-G-T c.822C>A p.L274= Synonymous 7/23 - 27
11-18327684-TGAGAG-T c.818_822del p.T273Kfs*7 Frameshift 7/23 - 1
11-18327686-G-T c.820C>A p.L274I Missense 7/23 - 1
11-18327688-AGTAAT-A c.814_818del p.I272Sfs*8 Frameshift 7/23 - 1
11-18327693-C-A c.813G>T p.V271= Synonymous 7/23 - 1
11-18327693-C-G c.813G>C p.V271= Synonymous 7/23 - 1
11-18327693-C-T c.813G>A p.V271= Synonymous 7/23 - 1
11-18327701-G-A c.805C>T p.L269F Missense 7/23 - 1
11-18327703-G-C c.803C>G p.P268R Missense 7/23 - 1
11-18327702-AG-A c.803del p.P268Lfs*4 Frameshift 7/23 - 1
11-18327704-G-A c.802C>T p.P268S Missense 7/23 - 1
11-18327704-G-T c.802C>A p.P268T Missense 7/23 - 1
11-18327712-G-A c.794C>T p.S265L Missense 7/23 - 1
11-18327713-A-T c.793T>A p.S265T Missense 7/23 - 1
11-18327717-G-A c.789C>T p.L263= Synonymous 7/23 - 1
11-18327722-T-C c.784A>G p.K262E Missense 7/23 - 1
11-18327726-G-C c.780C>G p.F260L Missense 7/23 - 1
11-18327726-G-T c.780C>A p.F260L Missense 7/23 - 1
11-18327728-A-G c.778T>C p.F260L Missense 7/23 - 5
11-18327731-G-T c.775C>A p.Q259K Missense 7/23 - 1
11-18327736-G-A c.770C>T p.T257I Missense 7/23 - 1
11-18327746-C-A c.760G>T p.V254F Missense 7/23 - 2
11-18327746-C-T c.760G>A p.V254I Missense 7/23 - 1
11-18327749-C-A c.757G>T p.E253* Nonsense 7/23 - 1
11-18327751-C-T c.755G>A p.G252E Missense 7/23 - 2
11-18327769-C-T c.737G>A p.W246* Nonsense 7/23 - 1
11-18327772-A-G c.734T>C p.M245T Missense 7/23 - 1
11-18327774-C-T c.732G>A p.R244= Synonymous 7/23 - 2
11-18327776-T-G c.730A>C p.R244= Synonymous 7/23 - 1
11-18327784-G-A c.722C>T p.P241L Missense 7/23 - 1
11-18327785-G-A c.721C>T p.P241S Missense 7/23 - 1
11-18327786-GC-TT c.719_720delinsAA p.R240Q Missense 7/23 - 1
11-18327787-C-G c.719G>C p.R240P Missense 7/23 - 2
11-18327787-C-T c.719G>A p.R240H Missense 7/23 - 4
11-18327788-G-A c.718C>T p.R240C Missense 7/23 - 3
11-18327791-C-G c.715G>C p.A239P Missense 7/23 - 1
11-18327791-C-T c.715G>A p.A239T Missense 7/23 - 1
11-18327796-T-C c.710A>G p.Y237C Missense 7/23 - 1
11-18327797-A-G c.709T>C p.Y237H Missense 7/23 - 1
11-18327799-A-G c.707T>C p.I236T Missense 7/23 - 1
11-18327814-C-G c.692G>C p.G231A Missense 7/23 - 1
11-18327816-C-A c.690G>T p.G230= Synonymous 7/23 - 2
11-18327816-C-G c.690G>C p.G230= Synonymous 7/23 - 2
11-18327816-C-T c.690G>A p.G230= Synonymous 7/23 - 2
11-18327817-C-A c.689G>T p.G230V Missense 7/23 - 2
11-18327817-C-T c.689G>A p.G230E Missense 7/23 - 1
11-18327818-C-T c.688G>A p.G230R Missense 7/23 - 1
11-18327819-A-C c.687T>G p.S229= Synonymous 7/23 - 2
11-18327819-A-G c.687T>C p.S229= Synonymous 7/23 - 2
11-18327819-A-T c.687T>A p.S229= Synonymous 7/23 - 2
11-18327825-TCT-ATG c.679_681delinsCAT p.R227H Missense 7/23 - 1
11-18327833-G-A c.673C>T p.P225S Missense 7/23 - 1
11-18327835-A-T c.671T>A p.F224Y Missense 7/23 - 2
11-18327841-C-T c.665G>A p.C222Y Missense 7/23 - 1
11-18327842-A-G c.664T>C p.C222R Missense 7/23 - 1
11-18327843-A-C c.663T>G p.A221= Synonymous 7/23 - 1
11-18327843-A-G c.663T>C p.A221= Synonymous 7/23 - 1
11-18327843-A-T c.663T>A p.A221= Synonymous 7/23 - 1
11-18327845-C-G c.661G>C p.A221P Missense 7/23 - 1
11-18327847-C-T c.659G>A p.G220E Missense 7/23 - 1
11-18327851-A-G c.655T>C p.Y219H Missense 7/23 - 1
11-18327855-TCC-GCT c.649_651delinsAGC p.G217S Missense 7/23 - 1
11-18327856-C-G c.650G>C p.G217A Missense 7/23 - 1
11-18327857-C-T c.649G>A p.G217R Missense 7/23 - 1
11-18327863-T-C c.643A>G p.R215G Missense 7/23 - 1
11-18327865-T-C c.641A>G p.E214G Missense 7/23 - 1
11-18327874-C-A c.632G>T p.G211V Missense 7/23 - 1
11-18327878-T-A c.628A>T p.I210F Missense 7/23 - 1
11-18327881-T-C c.625A>G p.K209E Missense 7/23 - 1
11-18327882-C-A c.624G>T p.W208C Missense 7/23 - 1
11-18327893-C-A c.613G>T p.E205* Nonsense 7/23 - 1
11-18330385-G-GA c.611+107dup - IntronicInsertion - 6/22 2
11-18330494-T-A c.610A>T p.R204* Nonsense 6/23 - 1
11-18330499-G-A c.605C>T p.T202I Missense 6/23 - 2
11-18330500-T-C c.604A>G p.T202A Missense 6/23 - 1
11-18330501-G-A c.603C>T p.D201= Synonymous 6/23 - 1
11-18330504-A-T c.600T>A p.C200* Nonsense 6/23 - 2
11-18330505-C-T c.599G>A p.C200Y Missense 6/23 - 1
11-18330505-C-CAG c.598_599insCT p.C200Sfs*37 Frameshift 6/23 - 2
11-18330506-A-G c.598T>C p.C200R Missense 6/23 - 1
11-18330517-C-T c.587G>A p.R196Q Missense 6/23 - 3
11-18330529-G-A c.575C>T p.S192F Missense 6/23 - 2
11-18330532-A-G c.572T>C p.I191T Missense 6/23 - 2
11-18330538-A-G c.566T>C p.L189P Missense 6/23 - 1
11-18330540-C-T c.564G>A p.R188= Synonymous 6/23 - 1
11-18330542-T-G c.562A>C p.R188= Synonymous 6/23 - 1
11-18330541-CT-TG c.562_563delinsCA p.R188Q Missense 6/23 - 1
11-18330545-C-T c.559G>A p.G187R Missense 6/23 - 1
11-18330549-C-A c.555G>T p.L185F Missense 6/23 - 1
11-18330550-A-G c.554T>C p.L185S Missense 6/23 - 1
11-18330551-A-T c.553T>A p.L185M Missense 6/23 - 1
11-18330553-T-C c.551A>G p.Y184C Missense 6/23 - 1
11-18330556-T-A c.548A>T p.D183V Missense 6/23 - 1
11-18330557-C-T c.547G>A p.D183N Missense 6/23 - 3
11-18330560-A-T c.544T>A p.L182I Missense 6/23 - 1
11-18330561-AC-A c.543del p.Q181Hfs*2 Frameshift 6/23 - 1
11-18330561-C-T c.543G>A p.Q181= Synonymous 6/23 - 1
11-18330562-T-A c.542A>T p.Q181L Missense 6/23 - 1
11-18330564-T-A c.540A>T p.V180= Synonymous 6/23 - 1
11-18330564-TAC-AAA c.538_540delinsTTT p.V180F Missense 6/23 - 1
11-18330564-T-C c.540A>G p.V180= Synonymous 6/23 - 1
11-18330564-T-G c.540A>C p.V180= Synonymous 6/23 - 1
11-18330568-A-C c.536T>G p.V179G Missense 6/23 - 1
11-18330568-A-G c.536T>C p.V179A Missense 6/23 - 3
11-18330569-C-T c.535G>A p.V179I Missense 6/23 - 1
11-18330571-C-T c.533G>A p.C178Y Missense 6/23 - 2
11-18330572-A-T c.532T>A p.C178S Missense 6/23 - 1
11-18330573-G-A c.531C>T p.S177= Synonymous 6/23 - 1
11-18330576-G-C c.528C>G p.D176E Missense 6/23 - 1
11-18330577-T-G c.527A>C p.D176A Missense 6/23 - 1
11-18330579-A-C c.525T>G p.V175= Synonymous 6/23 - 1
11-18330579-A-G c.525T>C p.V175= Synonymous 6/23 - 1
11-18330579-A-T c.525T>A p.V175= Synonymous 6/23 - 1
11-18330581-C-G c.523G>C p.V175L Missense 6/23 - 1
11-18330585-T-A c.519A>T p.T173= Synonymous 6/23 - 1
11-18330599-C-T c.505G>A p.V169I Missense 6/23 - 1
11-18330601-G-A c.503C>T p.P168L Missense 6/23 - 1
11-18330602-G-A c.502C>T p.P168S Missense 6/23 - 2
11-18330608-T-G c.496A>C p.M166L Missense 6/23 - 1
11-18330609-C-A c.495G>T p.V165= Synonymous 6/23 - 2
11-18330619-G-C c.485C>G p.A162G Missense 6/23 - 8
11-18330620-C-A c.484G>T p.A162S Missense 6/23 - 1
11-18330620-C-T c.484G>A p.A162T Missense 6/23 - 1
11-18330623-C-T c.481G>A p.A161T Missense 6/23 - 1
11-18330625-G-A c.479C>T p.A160V Missense 6/23 - 1
11-18332289-T-G c.476A>C p.K159T Missense 5/23 - 1
11-18332292-G-A c.473C>T p.A158V Missense 5/23 - 2
11-18332293-C-A c.472G>T p.A158S Missense 5/23 - 1
11-18332294-T-A c.471A>T p.Q157H Missense 5/23 - 1
11-18332294-T-C c.471A>G p.Q157= Synonymous 5/23 - 1
11-18332294-T-G c.471A>C p.Q157H Missense 5/23 - 3
11-18332295-T-C c.470A>G p.Q157R Missense 5/23 - 1
11-18332300-AG-TT c.464_465delinsAA p.S155* Nonsense 5/23 - 1
11-18332301-G-T c.464C>A p.S155Y Missense 5/23 - 1
11-18332304-G-T c.461C>A p.T154N Missense 5/23 - 1
11-18332306-A-C c.459T>G p.N153K Missense 5/23 - 1
11-18332307-T-C c.458A>G p.N153S Missense 5/23 - 1
11-18332308-T-A c.457A>T p.N153Y Missense 5/23 - 1
11-18332308-T-C c.457A>G p.N153D Missense 5/23 - 1
11-18332313-T-G c.452A>C p.K151T Missense 5/23 - 1
11-18332331-C-G c.434G>C p.G145A Missense 5/23 - 1
11-18332331-C-T c.434G>A p.G145E Missense 5/23 - 2
11-18332332-C-T c.433G>A p.G145R Missense 5/23 - 1
11-18332334-G-A c.431C>T p.A144V Missense 5/23 - 3
11-18332335-C-A c.430G>T p.A144S Missense 5/23 - 1
11-18332336-A-G c.429T>C p.H143= Synonymous 5/23 - 1
11-18332339-A-T c.426T>A p.D142E Missense 5/23 - 1
11-18332340-T-C c.425A>G p.D142G Missense 5/23 - 1
11-18332346-A-C c.419T>G p.V140G Missense 5/23 - 1
11-18332348-A-C c.417T>G p.F139L Missense 5/23 - 1
11-18332348-A-T c.417T>A p.F139L Missense 5/23 - 1
11-18332350-A-G c.415T>C p.F139L Missense 5/23 - 1
11-18332353-C-T c.412G>A p.V138I Missense 5/23 - 1
11-18332355-C-A c.410G>T p.R137I Missense 5/23 - 1
11-18332359-G-C c.406C>G p.L136V Missense 5/23 - 1
11-18332362-T-C c.403A>G p.I135V Missense 5/23 - 3
11-18332368-T-C c.397A>G p.T133A Missense 5/23 - 1
11-18332372-C-T c.393G>A p.W131* Nonsense 5/23 - 1
11-18332377-A-G c.388T>C p.C130R Missense 5/23 - 1
11-18332378-G-A c.387C>T p.L129= Synonymous 5/23 - 1
11-18332378-G-C c.387C>G p.L129= Synonymous 5/23 - 1
11-18332378-G-T c.387C>A p.L129= Synonymous 5/23 - 1
11-18332382-G-C c.383C>G p.A128G Missense 5/23 - 2
11-18332388-A-C c.377T>G p.V126G Missense 5/23 - 1
11-18332392-T-A c.373A>T p.R125* Nonsense 5/23 - 1
11-18332392-T-C c.373A>G p.R125G Missense 5/23 - 1
11-18332393-TCG-ACA c.370_372delinsTGT p.R124C Missense 5/23 - 1
11-18332395-G-A c.370C>T p.R124* Nonsense 5/23 - 2
11-18332395-G-T c.370C>A p.R124= Synonymous 5/23 - 1
11-18332396-G-T c.369C>A p.G123= Synonymous 5/23 - 1
11-18332397-C-A c.368G>T p.G123V Missense 5/23 - 1
11-18332397-C-T c.368G>A p.G123D Missense 5/23 - 1
11-18332403-T-C c.362A>G p.H121R Missense 5/23 - 1
11-18332408-TG-AA c.356_357delinsTT p.S119F Missense 5/23 - 1
11-18332411-A-C c.354T>G p.S118= Synonymous 5/23 - 1
11-18332411-A-G c.354T>C p.S118= Synonymous 5/23 - 1
11-18332411-A-T c.354T>A p.S118= Synonymous 5/23 - 1
11-18332412-GA-AG c.352_353delinsCT p.S118L Missense 5/23 - 1
11-18332412-GA-TT c.352_353delinsAA p.S118N Missense 5/23 - 1
11-18332418-T-C c.347A>G p.Y116C Missense 5/23 - 1
11-18332419-A-G c.346T>C p.Y116H Missense 5/23 - 1
11-18332420-C-A c.345G>T p.M115I Missense 5/23 - 2
11-18332420-C-G c.345G>C p.M115I Missense 5/23 - 2
11-18332420-C-T c.345G>A p.M115I Missense 5/23 - 6
11-18332421-A-G c.344T>C p.M115T Missense 5/23 - 1
11-18332423-T-A c.342A>T p.Q114H Missense 5/23 - 1
11-18332423-T-G c.342A>C p.Q114H Missense 5/23 - 1
11-18332428-C-G c.337G>C p.E113Q Missense 5/23 - 1
11-18332430-G-A c.335C>T p.P112L Missense 5/23 - 1
11-18332435-C-A c.330G>T p.G110= Synonymous 5/23 - 1
11-18332435-C-G c.330G>C p.G110= Synonymous 5/23 - 1
11-18332435-C-T c.330G>A p.G110= Synonymous 5/23 - 1
11-18332439-C-T c.326G>A p.R109H Missense 5/23 - 3
11-18332440-G-A c.325C>T p.R109C Missense 5/23 - 1
11-18332441-ACG-CTT c.322_324delinsAAG p.R108K Missense 5/23 - 1
11-18332441-AC-TT c.323_324delinsAA p.R108Q Missense 5/23 - 1
11-18332442-C-A c.323G>T p.R108L Missense 5/23 - 1
11-18332443-G-T c.322C>A p.R108S Missense 5/23 - 1
11-18332446-C-T c.319G>A p.E107K Missense 5/23 - 1
11-18332449-G-C c.316C>G p.Q106E Missense 5/23 - 3
11-18332453-TAA-CAT c.310_312delinsATG p.L104M Missense 5/23 - 1
11-18332453-T-C c.312A>G p.L104L UnclassifiedSNV 5/23 - 1
11-18332456-T-C c.309A>G p.E103= Synonymous 5/23 - 2
11-18332458-C-A c.307G>T p.E103* Nonsense 5/23 - 1
11-18332460-C-A c.305G>T p.W102L Missense 5/23 - 1
11-18332462-AAC-CAT c.301_303delinsATG p.V101M Missense 5/23 - 1
11-18332459-CCAAA-C c.302_305del p.V101Gfs*3 Frameshift 5/23 - 3
11-18332463-A-C c.302T>G p.V101G Missense 5/23 - 1
11-18332475-C-A c.290G>T p.G97V Missense 5/23 - 2
11-18332475-C-T c.290G>A p.G97D Missense 5/23 - 2
11-18332478-T-C c.287A>G p.Q96R Missense 5/23 - 1
11-18332479-G-GGCTACAGCT c.285_286insAGCTGTAGC p.S95_Q96insSCS InFrameInsertion 5/23 - 1
11-18332938-T-C c.280A>G p.T94A Missense 4/23 - 1
11-18332939-A-C c.279T>G p.A93= Synonymous 4/23 - 2
11-18332939-A-G c.279T>C p.A93= Synonymous 4/23 - 3
11-18332939-A-T c.279T>A p.A93= Synonymous 4/23 - 2
11-18332943-A-G c.275T>C p.V92A Missense 4/23 - 4
11-18332952-T-C c.266A>G p.Y89C Missense 4/23 - 1
11-18332956-C-A c.262G>T p.D88Y Missense 4/23 - 3
11-18332962-C-G c.256G>C p.D86H Missense 4/23 - 1
11-18332965-G-A c.253C>T p.H85Y Missense 4/23 - 1
11-18332975-GG-CT c.242_243delinsAG p.A81E Missense 4/23 - 1
11-18332977-C-T c.241G>A p.A81T Missense 4/23 - 2
11-18332980-C-G c.238G>C p.V80L Missense 4/23 - 2
11-18332987-A-C c.231T>G p.I77M Missense 4/23 - 2
11-18332989-T-C c.229A>G p.I77V Missense 4/23 - 2
11-18332990-T-A c.228A>T p.A76= Synonymous 4/23 - 1
11-18332998-C-A c.220G>T p.E74* Nonsense 4/23 - 1
11-18333042-C-CGTT c.220-45_220-44insAAC - IntronicInsertion - 3/22 1
11-18333057-T-TA c.220-60dup - IntronicInsertion - 3/22 1
11-18333058-A-T c.220-60T>A - IntronicSNV - 3/22 1
11-18333059-T-TTA c.220-62_220-61insTA - IntronicInsertion - 3/22 1
11-18333059-T-TTATTA c.220-62_220-61insTAATA - IntronicInsertion - 3/22 1
11-18333061-T-A c.220-63A>T - IntronicSNV - 3/22 4
11-18333064-T-A c.220-66A>T - IntronicSNV - 3/22 1
11-18333096-T-C c.220-98A>G - IntronicSNV - 3/22 1
11-18333370-C-A c.219+91G>T - IntronicSNV - 3/22 1
11-18333436-A-T c.219+25T>A - IntronicSNV - 3/22 7
11-18333456-C-G c.219+5G>C - IntronicSNV - 3/22 1
11-18333458-T-TA c.219+2dup - SpliceDonorInsertion - 3/22 1
11-18333461-C-T c.219G>A p.R73= Synonymous 3/23 - 1
11-18333462-C-T c.218G>A p.R73K Missense 3/23 - 1
11-18333462-CT-AG c.217_218inv p.R73L Missense 3/23 - 1
11-18333463-T-A c.217A>T p.R73W Missense 3/23 - 1
11-18333469-A-G c.211T>C p.S71P Missense 3/23 - 1
11-18333472-G-C c.208C>G p.L70V Missense 3/23 - 1
11-18333473-A-G c.207T>C p.F69= Synonymous 3/23 - 3
11-18333484-G-A c.196C>T p.H66Y Missense 3/23 - 1
11-18333488-C-T c.192G>A p.W64* Nonsense 3/23 - 1
11-18333491-GC-CT c.188_189delinsAG p.G63E Missense 3/23 - 1
11-18333492-C-A c.188G>T p.G63V Missense 3/23 - 1
11-18333496-C-T c.184G>A p.E62K Missense 3/23 - 1
11-18333502-G-A c.178C>T p.Q60* Nonsense 3/23 - 1
11-18333502-G-T c.178C>A p.Q60K Missense 3/23 - 1
11-18333507-A-T c.173T>A p.L58H Missense 3/23 - 4
11-18333509-A-C c.171T>G p.H57Q Missense 3/23 - 1
11-18333509-A-T c.171T>A p.H57Q Missense 3/23 - 1
11-18333515-TCC-GCT c.163_165delinsAGC p.G55S Missense 3/23 - 2
11-18333516-C-T c.164G>A p.G55E Missense 3/23 - 1
11-18333517-C-A c.163G>T p.G55* Nonsense 3/23 - 1
11-18333521-T-A c.159A>T p.G53= Synonymous 3/23 - 1
11-18333521-T-C c.159A>G p.G53= Synonymous 3/23 - 3
11-18333521-T-G c.159A>C p.G53= Synonymous 3/23 - 1
11-18333522-C-A c.158G>T p.G53V Missense 3/23 - 1
11-18333523-C-G c.157G>C p.G53R Missense 3/23 - 1
11-18333523-C-T c.157G>A p.G53R Missense 3/23 - 1
11-18333524-TG-CC c.155_156delinsGG p.S52W Missense 3/23 - 1
11-18333525-G-C c.155C>G p.S52* Nonsense 3/23 - 1
11-18333522-CCTGAA-C c.153_157del p.S51Rfs*34 Frameshift 3/23 - 1
11-18333526-A-G c.154T>C p.S52P Missense 3/23 - 1
11-18333531-C-T c.149G>A p.G50D Missense 3/23 - 1
11-18333535-A-C c.145T>G p.L49V Missense 3/23 - 1
11-18333536-A-C c.144T>G p.A48= Synonymous 3/23 - 2
11-18333536-A-G c.144T>C p.A48= Synonymous 3/23 - 2
11-18333536-A-T c.144T>A p.A48= Synonymous 3/23 - 3
11-18333537-G-A c.143C>T p.A48V Missense 3/23 - 1
11-18333537-GC-AA c.142_143delinsTT p.A48F Missense 3/23 - 1
11-18333538-C-A c.142G>T p.A48S Missense 3/23 - 1
11-18333541-A-G c.139T>C p.L47= Synonymous 3/23 - 1
11-18333543-C-A c.137G>T p.W46L Missense 3/23 - 1
11-18333549-C-T c.131G>A p.R44Q Missense 3/23 - 1
11-18333550-G-A c.130C>T p.R44W Missense 3/23 - 1
11-18333552-G-C c.128C>G p.S43C Missense 3/23 - 1
11-18333554-CAC-GAT c.124_126delinsATC p.V42I Missense 3/23 - 1
11-18333556-C-T c.124G>A p.V42M Missense 3/23 - 1
11-18333557-A-C c.123T>G p.A41= Synonymous 3/23 - 1
11-18333557-A-G c.123T>C p.A41= Synonymous 3/23 - 1
11-18333557-A-T c.123T>A p.A41= Synonymous 3/23 - 1
11-18333566-CG-GT c.113_114delinsAC p.T38N Missense 3/23 - 1
11-18333570-C-T c.110G>A p.C37Y Missense 3/23 - 1
11-18338682-A-C c.108+616T>G - IntronicSNV - 2/22 1
11-18339261-G-A c.108+37C>T - IntronicSNV - 2/22 1
11-18339298-C-T c.108G>A p.K36= Synonymous 2/23 - 1
11-18339303-G-C c.103C>G p.L35V Missense 2/23 - 5
11-18339305-C-T c.101G>A p.R34H Missense 2/23 - 1
11-18339307-A-G c.99T>C p.S33= Synonymous 2/23 - 1
11-18339308-C-A c.98G>T p.S33I Missense 2/23 - 1
11-18339308-CT-TA c.97_98delinsTA p.S33Y Missense 2/23 - 1
11-18339315-C-G c.91G>C p.D31H Missense 2/23 - 1
11-18339320-C-T c.86G>A p.R29Q Missense 2/23 - 4
11-18339321-G-A c.85C>T p.R29W Missense 2/23 - 5
11-18339325-G-A c.81C>T p.A27= Synonymous 2/23 - 1
11-18339325-G-C c.81C>G p.A27= Synonymous 2/23 - 1
11-18339325-G-T c.81C>A p.A27= Synonymous 2/23 - 1
11-18339326-GC-AA c.79_80delinsTT p.A27F Missense 2/23 - 1
11-18339328-T-A c.78A>T p.S26= Synonymous 2/23 - 2
11-18339328-T-C c.78A>G p.S26= Synonymous 2/23 - 2
11-18339328-T-G c.78A>C p.S26= Synonymous 2/23 - 2
11-18339331-G-A c.75C>T p.L25= Synonymous 2/23 - 2
11-18339331-G-C c.75C>G p.L25= Synonymous 2/23 - 5
11-18339331-G-T c.75C>A p.L25= Synonymous 2/23 - 2
11-18339339-G-A c.67C>T p.P23S Missense 2/23 - 2
11-18339342-C-A c.64G>T p.D22Y Missense 2/23 - 1
11-18339347-G-T c.59C>A p.S20Y Missense 2/23 - 1
11-18339358-TG-GT c.47_48delinsAC p.A16D Missense 2/23 - 2
11-18339359-GC-AT c.46_47delinsAT p.A16I Missense 2/23 - 1
11-18339359-GC-TA c.46_47delinsTA p.A16* Nonsense 2/23 - 1
11-18339363-G-A c.43C>T p.L15F Missense 2/23 - 1
11-18339364-A-G c.42T>C p.V14= Synonymous 2/23 - 1
11-18339368-T-C c.38A>G p.H13R Missense 2/23 - 1
11-18339369-G-A c.37C>T p.H13Y Missense 2/23 - 1
11-18339369-G-T c.37C>A p.H13N Missense 2/23 - 1
11-18339371-C-A c.35G>T p.S12I Missense 2/23 - 1
11-18339371-C-T c.35G>A p.S12N Missense 2/23 - 1
11-18339373-G-C c.33C>G p.Y11* Nonsense 2/23 - 1
11-18339380-T-C c.26A>G p.E9G Missense 2/23 - 1
11-18339384-G-GT c.21dup p.P8Tfs*12 Frameshift 2/23 - 1
11-18339386-A-G c.20T>C p.I7T Missense 2/23 - 1
11-18339392-G-A c.14C>T p.P5L Missense 2/23 - 2
11-18339393-G-A c.13C>T p.P5S Missense 2/23 - 1
11-18339393-G-C c.13C>G p.P5A Missense 2/23 - 1
11-18339394-C-A c.12G>T p.V4= Synonymous 2/23 - 1
11-18339394-C-G c.12G>C p.V4= Synonymous 2/23 - 1
11-18339394-C-T c.12G>A p.V4= Synonymous 2/23 - 1
11-18339396-C-T c.10G>A p.V4M Missense 2/23 - 1
11-18339400-A-C c.6T>G p.A2= Synonymous 2/23 - 2
11-18339400-A-G c.6T>C p.A2= Synonymous 2/23 - 2
11-18339400-A-T c.6T>A p.A2= Synonymous 2/23 - 2
11-18339403-C-A c.3G>T p.M1? Missense 2/23 - 2
11-18339403-C-G c.3G>C p.M1? Missense 2/23 - 2
11-18339403-C-T c.3G>A p.M1? Missense 2/23 - 2
11-18339568-C-A c.-163G>T - IntronicSNV 1/23 - 1
11-18339568-C-T c.-163G>A - IntronicSNV 1/23 - 1
11-18340241-T-A c.-49-787A>T - IntronicSNV - 1/22 1
11-18340241-T-G c.-49-787A>C - IntronicSNV - 1/22 1
11-18342081-T-C c.-50+1412A>G - intron_variant - 1/22 1