PIK3CB

PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta

Annotation transcript: NM_006219.3

1380 unique variant annotations were identified in 711 publications

Gene-Specific Resource Links:

OMIM

Entrez

Ensembl

HGNC

COSMIC

ClinGen

PubMed

GeneReviews

ClinVar

gnomAD v3

gnomAD v2.1

Variant ID	cDot	pDot	Consequence	Exon	Intron	Reference Count
3-138371699-C-A	c.*2532G>T	-	3-UTRSNV	24/24	-	2
3-138371699-C-T	c.*2532G>A	-	3-UTRSNV	24/24	-	2
3-138372052-A-G	c.*2179T>C	-	3-UTRSNV	24/24	-	2
3-138372052-A-T	c.*2179T>A	-	3-UTRSNV	24/24	-	2
3-138372481-G-A	c.*1750C>T	-	3-UTRSNV	24/24	-	1
3-138372984-G-C	c.*1247C>G	-	3-UTRSNV	24/24	-	2
3-138372984-G-T	c.*1247C>A	-	3-UTRSNV	24/24	-	2
3-138374237-T-C	c.3207A>G	p.R1069=	Synonymous	24/24	-	2
3-138374239-T-G	c.3205A>C	p.R1069=	Synonymous	24/24	-	2
3-138374238-C-A	c.3206G>T	p.R1069I	Missense	24/24	-	1
3-138374244-T-A	c.3200A>T	p.D1067V	Missense	24/24	-	41
3-138374244-T-G	c.3200A>C	p.D1067A	Missense	24/24	-	12
3-138374245-C-A	c.3199G>T	p.D1067Y	Missense	24/24	-	17
3-138374245-C-G	c.3199G>C	p.D1067H	Missense	24/24	-	6
3-138374245-C-T	c.3199G>A	p.D1067N	Missense	24/24	-	4
3-138374251-G-A	c.3193C>T	p.R1065W	Missense	24/24	-	4
3-138374251-G-C	c.3193C>G	p.R1065G	Missense	24/24	-	1
3-138374254-C-G	c.3190G>C	p.V1064L	Missense	24/24	-	2
3-138374254-C-T	c.3190G>A	p.V1064I	Missense	24/24	-	1
3-138374260-G-T	c.3184C>A	p.H1062N	Missense	24/24	-	1
3-138374263-C-A	c.3181G>T	p.A1061S	Missense	24/24	-	1
3-138374269-A-C	c.3175T>G	p.W1059G	Missense	24/24	-	1
3-138374275-C-T	c.3169G>A	p.V1057M	Missense	24/24	-	1
3-138374280-G-C	c.3164C>G	p.T1055S	Missense	24/24	-	1
3-138374281-T-A	c.3163A>T	p.T1055S	Missense	24/24	-	1
3-138374281-T-C	c.3163A>G	p.T1055A	Missense	24/24	-	5
3-138374286-C-A	c.3158G>T	p.W1053L	Missense	24/24	-	1
3-138374286-C-T	c.3158G>A	p.W1053*	Nonsense	24/24	-	2
3-138374288-G-C	c.3156C>G	p.S1052R	Missense	24/24	-	1
3-138374288-G-T	c.3156C>A	p.S1052R	Missense	24/24	-	1
3-138374290-T-G	c.3154A>C	p.S1052R	Missense	24/24	-	1
3-138374292-T-C	c.3152A>G	p.E1051G	Missense	24/24	-	5
3-138374293-C-T	c.3151G>A	p.E1051K	Missense	24/24	-	52
3-138374295-C-T	c.3149G>A	p.R1050K	Missense	24/24	-	2
3-138374296-T-C	c.3148A>G	p.R1050G	Missense	24/24	-	2
3-138374298-A-C	c.3146T>G	p.L1049R	Missense	24/24	-	13
3-138374300-C-A	c.3144G>T	p.A1048=	Synonymous	24/24	-	3
3-138374300-C-G	c.3144G>C	p.A1048=	Synonymous	24/24	-	4
3-138374300-C-T	c.3144G>A	p.A1048=	Synonymous	24/24	-	4
3-138374301-G-A	c.3143C>T	p.A1048V	Missense	24/24	-	12
3-138374303-C-A	c.3141G>T	p.E1047D	Missense	24/24	-	1
3-138374303-C-G	c.3141G>C	p.E1047D	Missense	24/24	-	1
3-138374305-C-T	c.3139G>A	p.E1047K	Missense	24/24	-	6
3-138374307-T-C	c.3137A>G	p.D1046G	Missense	24/24	-	1
3-138374308-C-A	c.3136G>T	p.D1046Y	Missense	24/24	-	1
3-138374308-C-T	c.3136G>A	p.D1046N	Missense	24/24	-	5
3-138374336-T-G	c.3108A>C	p.E1036D	Missense	24/24	-	1
3-138374338-C-T	c.3106G>A	p.E1036K	Missense	24/24	-	6
3-138374344-C-T	c.3100G>A	p.E1034K	Missense	24/24	-	2
3-138374347-T-A	c.3097A>T	p.S1033C	Missense	24/24	-	1
3-138374348-C-G	c.3096G>C	p.K1032N	Missense	24/24	-	1
3-138374352-CC-AG	c.3091_3092delinsCT	p.G1031L	Missense	24/24	-	1
3-138374353-C-A	c.3091G>T	p.G1031W	Missense	24/24	-	1
3-138374994-T-C	c.3065A>G	p.Q1022R	Missense	23/24	-	1
3-138374996-T-C	c.3063A>G	p.I1021M	Missense	23/24	-	2
3-138374997-A-G	c.3062T>C	p.I1021T	Missense	23/24	-	1
3-138375001-C-G	c.3058G>C	p.D1020H	Missense	23/24	-	7
3-138375004-T-A	c.3055A>T	p.K1019*	Nonsense	23/24	-	3
3-138375007-C-CT	c.3051dup	p.V1018Sfs*8	Frameshift	23/24	-	1
3-138375009-G-A	c.3050C>T	p.S1017L	Missense	23/24	-	1
3-138375019-C-T	c.3040G>A	p.E1014K	Missense	23/24	-	5
3-138375030-G-A	c.3029C>T	p.A1010V	Missense	23/24	-	1
3-138375030-G-C	c.3029C>G	p.A1010G	Missense	23/24	-	1
3-138375036-A-G	c.3023T>C	p.L1008S	Missense	23/24	-	1
3-138375036-A-T	c.3023T>A	p.L1008*	Nonsense	23/24	-	2
3-138375040-T-A	c.3019A>T	p.M1007L	Missense	23/24	-	1
3-138375045-G-A	c.3014C>T	p.A1005V	Missense	23/24	-	2
3-138375047-A-G	c.3012T>C	p.F1004=	Synonymous	23/24	-	1
3-138375049-A-T	c.3010T>A	p.F1004I	Missense	23/24	-	1
3-138375052-G-A	c.3007C>T	p.L1003F	Missense	23/24	-	2
3-138375048-AAG-A	c.3009_3010del	p.F1004Cfs*10	Frameshift	23/24	-	1
3-138375067-T-G	c.2992A>C	p.N998H	Missense	23/24	-	1
3-138375075-C-A	c.2984G>T	p.R995L	Missense	23/24	-	1
3-138375075-C-T	c.2984G>A	p.R995Q	Missense	23/24	-	1
3-138375077-TC-AT	c.2981_2982delinsAT	p.R994H	Missense	23/24	-	1
3-138375078-C-A	c.2981G>T	p.R994L	Missense	23/24	-	1
3-138375079-G-A	c.2980C>T	p.R994*	Nonsense	23/24	-	1
3-138375084-A-G	c.2975T>C	p.I992T	Missense	23/24	-	7
3-138375088-G-C	c.2971C>G	p.L991V	Missense	23/24	-	1
3-138375092-T-C	c.2967A>G	p.A989=	Synonymous	23/24	-	1
3-138375094-C-T	c.2965G>A	p.A989T	Missense	23/24	-	1
3-138375100-C-T	c.2959G>A	p.E987K	Missense	23/24	-	1
3-138375102-C-T	c.2957G>A	p.C986Y	Missense	23/24	-	1
3-138375111-C-T	c.2948G>A	p.R983H	Missense	23/24	-	2
3-138375112-G-A	c.2947C>T	p.R983C	Missense	23/24	-	4
3-138375113-G-C	c.2946C>G	p.F982L	Missense	23/24	-	1
3-138375113-G-T	c.2946C>A	p.F982L	Missense	23/24	-	1
3-138375115-A-G	c.2944T>C	p.F982L	Missense	23/24	-	1
3-138376323-T-C	c.2942+209A>G	-	IntronicSNV	-	22/23	2
3-138376532-C-A	c.2942G>T	p.R981L	Missense	22/24	-	1
3-138376532-C-G	c.2942G>C	p.R981P	Missense	22/24	-	5
3-138376532-C-T	c.2942G>A	p.R981Q	Missense	22/24	-	2
3-138376533-G-A	c.2941C>T	p.R981W	Missense	22/24	-	2
3-138376533-G-T	c.2941C>A	p.R981=	Synonymous	22/24	-	1
3-138376536-C-T	c.2938G>A	p.G980S	Missense	22/24	-	2
3-138376542-T-A	c.2932A>T	p.K978*	Nonsense	22/24	-	2
3-138376543-T-A	c.2931A>T	p.E977D	Missense	22/24	-	1
3-138376543-T-G	c.2931A>C	p.E977D	Missense	22/24	-	1
3-138376546-T-A	c.2928A>T	p.T976=	Synonymous	22/24	-	1
3-138376553-C-G	c.2921G>C	p.G974A	Missense	22/24	-	1
3-138376554-C-G	c.2920G>C	p.G974R	Missense	22/24	-	1
3-138376554-C-T	c.2920G>A	p.G974R	Missense	22/24	-	2
3-138376556-G-A	c.2918C>T	p.T973I	Missense	22/24	-	1
3-138376557-T-C	c.2917A>G	p.T973A	Missense	22/24	-	1
3-138376560-T-G	c.2914A>C	p.K972Q	Missense	22/24	-	1
3-138376563-C-A	c.2911G>T	p.G971*	Nonsense	22/24	-	1
3-138376564-T-C	c.2910A>G	p.Q970=	Synonymous	22/24	-	1
3-138376566-G-A	c.2908C>T	p.Q970*	Nonsense	22/24	-	6
3-138376569-G-T	c.2905C>A	p.Q969K	Missense	22/24	-	1
3-138376574-A-G	c.2900T>C	p.V967A	Missense	22/24	-	2
3-138376575-C-T	c.2899G>A	p.V967I	Missense	22/24	-	1
3-138376576-A-C	c.2898T>G	p.H966Q	Missense	22/24	-	1
3-138376576-A-T	c.2898T>A	p.H966Q	Missense	22/24	-	1
3-138376578-G-A	c.2896C>T	p.H966Y	Missense	22/24	-	1
3-138376579-GA-CT	c.2894_2895delinsAG	p.I965K	Missense	22/24	-	1
3-138376583-A-C	c.2891T>G	p.F964C	Missense	22/24	-	1
3-138376582-G-C	c.2892C>G	p.F964L	Missense	22/24	-	1
3-138376582-G-T	c.2892C>A	p.F964L	Missense	22/24	-	1
3-138376584-A-G	c.2890T>C	p.F964L	Missense	22/24	-	1
3-138376587-C-T	c.2887G>A	p.D963N	Missense	22/24	-	1
3-138376589-T-C	c.2885A>G	p.Y962C	Missense	22/24	-	1
3-138376590-A-T	c.2884T>A	p.Y962N	Missense	22/24	-	4
3-138376597-A-G	c.2877T>C	p.I959=	Synonymous	22/24	-	1
3-138376597-A-T	c.2877T>A	p.I959=	Synonymous	22/24	-	1
3-138376607-A-G	c.2867T>C	p.V956A	Missense	22/24	-	1
3-138376610-C-T	c.2864G>A	p.R955Q	Missense	22/24	-	1
3-138376614-C-T	c.2860G>A	p.E954K	Missense	22/24	-	1
3-138376617-T-C	c.2857A>G	p.R953G	Missense	22/24	-	1
3-138376618-T-C	c.2856A>G	p.K952=	Synonymous	22/24	-	1
3-138376619-T-A	c.2855A>T	p.K952I	Missense	22/24	-	1
3-138376619-T-C	c.2855A>G	p.K952R	Missense	22/24	-	1
3-138376626-C-T	c.2848G>A	p.G950S	Missense	22/24	-	1
3-138376631-T-C	c.2843A>G	p.K948R	Missense	22/24	-	1
3-138376634-G-A	c.2840C>T	p.S947F	Missense	22/24	-	1
3-138376634-G-C	c.2840C>G	p.S947C	Missense	22/24	-	1
3-138376639-G-C	c.2835C>G	p.F945L	Missense	22/24	-	2
3-138376646-C-A	c.2828G>T	p.G943V	Missense	22/24	-	1
3-138376647-C-A	c.2827G>T	p.G943*	Nonsense	22/24	-	2
3-138376649-A-C	c.2825T>G	p.L942R	Missense	22/24	-	1
3-138376650-G-C	c.2824C>G	p.L942V	Missense	22/24	-	3
3-138376651-A-C	c.2823T>G	p.I941M	Missense	22/24	-	1
3-138376657-T-A	c.2817A>T	p.G939=	Synonymous	22/24	-	1
3-138376657-T-C	c.2817A>G	p.G939=	Synonymous	22/24	-	1
3-138376657-T-G	c.2817A>C	p.G939=	Synonymous	22/24	-	1
3-138376659-C-A	c.2815G>T	p.G939*	Nonsense	22/24	-	1
3-138376659-C-G	c.2815G>C	p.G939R	Missense	22/24	-	1
3-138376664-T-G	c.2810A>C	p.D937A	Missense	22/24	-	1
3-138376666-A-G	c.2808T>C	p.I936=	Synonymous	22/24	-	1
3-138376669-G-T	c.2805C>A	p.H935Q	Missense	22/24	-	1
3-138376676-A-G	c.2798T>C	p.L933P	Missense	22/24	-	1
3-138382751-G-A	c.2793C>T	p.G931=	Synonymous	21/24	-	1
3-138382753-C-A	c.2791G>T	p.G931C	Missense	21/24	-	1
3-138382755-G-GT	c.2788dup	p.T930Nfs*8	Frameshift	21/24	-	2
3-138382755-GT-G	c.2788del	p.T930Lfs*62	Frameshift	21/24	-	5
3-138382763-G-A	c.2781C>T	p.V927=	Synonymous	21/24	-	2
3-138382763-G-C	c.2781C>G	p.V927=	Synonymous	21/24	-	1
3-138382763-G-T	c.2781C>A	p.V927=	Synonymous	21/24	-	2
3-138382770-ATGT-A	c.2771_2773del	p.N924del	InFrameDeletion	21/24	-	1
3-138382774-T-TA	c.2769_2770insT	p.N924*	Nonsense	21/24	-	1
3-138382777-C-G	c.2767G>C	p.D923H	Missense	21/24	-	2
3-138382788-T-C	c.2756A>G	p.D919G	Missense	21/24	-	1
3-138382789-C-T	c.2755G>A	p.D919N	Missense	21/24	-	1
3-138382792-C-G	c.2752G>C	p.G918R	Missense	21/24	-	1
3-138382794-A-C	c.2750T>G	p.I917S	Missense	21/24	-	1
3-138382798-C-A	c.2746G>T	p.G916W	Missense	21/24	-	1
3-138382800-A-G	c.2744T>C	p.L915P	Missense	21/24	-	1
3-138382809-G-A	c.2735C>T	p.S912F	Missense	21/24	-	1
3-138382813-C-T	c.2731G>A	p.A911T	Missense	21/24	-	1
3-138382827-G-A	c.2717C>T	p.A906V	Missense	21/24	-	2
3-138382835-C-T	c.2709G>A	p.L903=	Synonymous	21/24	-	1
3-138382842-A-G	c.2702T>C	p.F901S	Missense	21/24	-	1
3-138382846-C-T	c.2698G>A	p.E900K	Missense	21/24	-	1
3-138382849-C-G	c.2695G>C	p.E899Q	Missense	21/24	-	1
3-138382857-C-A	c.2687G>T	p.R896L	Missense	21/24	-	15
3-138382857-C-G	c.2687G>C	p.R896P	Missense	21/24	-	6
3-138382857-C-T	c.2687G>A	p.R896Q	Missense	21/24	-	10
3-138382858-G-A	c.2686C>T	p.R896*	Nonsense	21/24	-	1
3-138382870-C-A	c.2674G>T	p.D892Y	Missense	21/24	-	1
3-138383144-A-C	c.2673-273T>G	-	IntronicSNV	-	20/23	1
3-138383144-A-G	c.2673-273T>C	-	IntronicSNV	-	20/23	1
3-138383881-G-T	c.2669C>A	p.S890Y	Missense	20/24	-	1
3-138383891-C-A	c.2659G>T	p.E887*	Nonsense	20/24	-	5
3-138383893-T-C	c.2657A>G	p.K886R	Missense	20/24	-	1
3-138383899-C-A	c.2651G>T	p.W884L	Missense	20/24	-	1
3-138383904-C-A	c.2646G>T	p.L882=	Synonymous	20/24	-	1
3-138383904-CA-AT	c.2645_2646delinsAT	p.L882H	Missense	20/24	-	1
3-138383904-C-G	c.2646G>C	p.L882=	Synonymous	20/24	-	1
3-138383904-C-T	c.2646G>A	p.L882=	Synonymous	20/24	-	2
3-138383906-G-A	c.2644C>T	p.L882=	Synonymous	20/24	-	1
3-138383906-GAAGGGCATCTTTGTTGA-G	c.2627_2643del	p.F876Sfs*5	Frameshift	20/24	-	1
3-138383908-A-G	c.2642T>C	p.L881P	Missense	20/24	-	1
3-138383908-A-T	c.2642T>A	p.L881H	Missense	20/24	-	5
3-138383910-G-A	c.2640C>T	p.A880=	Synonymous	20/24	-	1
3-138383915-C-A	c.2635G>T	p.D879Y	Missense	20/24	-	1
3-138383915-C-G	c.2635G>C	p.D879H	Missense	20/24	-	1
3-138383922-G-C	c.2628C>G	p.F876L	Missense	20/24	-	6
3-138383922-G-T	c.2628C>A	p.F876L	Missense	20/24	-	6
3-138383924-A-G	c.2626T>C	p.F876L	Missense	20/24	-	7
3-138383926-G-T	c.2624C>A	p.A875D	Missense	20/24	-	6
3-138383929-G-T	c.2621C>A	p.A874E	Missense	20/24	-	1
3-138383932-G-A	c.2618C>T	p.A873V	Missense	20/24	-	1
3-138383934-A-C	c.2616T>G	p.A872=	Synonymous	20/24	-	2
3-138383934-A-G	c.2616T>C	p.A872=	Synonymous	20/24	-	2
3-138383934-A-T	c.2616T>A	p.A872=	Synonymous	20/24	-	3
3-138383944-T-C	c.2606A>G	p.N869S	Missense	20/24	-	1
3-138383947-C-T	c.2603G>A	p.S868N	Missense	20/24	-	1
3-138383958-C-A	c.2592G>T	p.Q864H	Missense	20/24	-	2
3-138383960-G-T	c.2590C>A	p.Q864K	Missense	20/24	-	1
3-138383964-GTC-TTG	c.2584_2586delinsCAA	p.D862Q	Missense	20/24	-	1
3-138383965-T-C	c.2585A>G	p.D862G	Missense	20/24	-	1
3-138383967-A-C	c.2583T>G	p.A861=	Synonymous	20/24	-	1
3-138383967-A-G	c.2583T>C	p.A861=	Synonymous	20/24	-	1
3-138383967-A-T	c.2583T>A	p.A861=	Synonymous	20/24	-	1
3-138383974-G-T	c.2576C>A	p.T859K	Missense	20/24	-	1
3-138383975-T-C	c.2575A>G	p.T859A	Missense	20/24	-	6
3-138383978-C-T	c.2572G>A	p.E858K	Missense	20/24	-	1
3-138383980-G-A	c.2570C>T	p.S857F	Missense	20/24	-	1
3-138383980-G-C	c.2570C>G	p.S857C	Missense	20/24	-	2
3-138383986-C-G	c.2564G>C	p.S855T	Missense	20/24	-	1
3-138383990-C-T	c.2560G>A	p.V854M	Missense	20/24	-	1
3-138383996-C-T	c.2554G>A	p.E852K	Missense	20/24	-	1
3-138383998-A-G	c.2552T>C	p.I851T	Missense	20/24	-	1
3-138384003-G-A	c.2547C>T	p.G849=	Synonymous	20/24	-	1
3-138384004-C-T	c.2546G>A	p.G849D	Missense	20/24	-	1
3-138384010-C-CG	c.2539dup	p.R847Pfs*6	Frameshift	20/24	-	1
3-138384011-G-A	c.2539C>T	p.R847C	Missense	20/24	-	9
3-138384011-G-C	c.2539C>G	p.R847G	Missense	20/24	-	3
3-138384016-C-T	c.2534G>A	p.G845E	Missense	20/24	-	1
3-138384017-C-A	c.2533G>T	p.G845*	Nonsense	20/24	-	1
3-138384023-C-G	c.2527G>C	p.A843P	Missense	20/24	-	1
3-138384023-C-T	c.2527G>A	p.A843T	Missense	20/24	-	1
3-138384025-A-G	c.2525T>C	p.L842S	Missense	20/24	-	2
3-138384027-A-C	c.2523T>G	p.C841W	Missense	20/24	-	1
3-138384042-C-A	c.2508G>T	p.M836I	Missense	20/24	-	1
3-138384042-C-G	c.2508G>C	p.M836I	Missense	20/24	-	1
3-138384042-C-T	c.2508G>A	p.M836I	Missense	20/24	-	1
3-138384073-C-T	c.2505-28G>A	-	IntronicSNV	-	19/23	5
3-138385415-C-A	c.2505-1370G>T	-	IntronicSNV	-	19/23	1
3-138385415-C-T	c.2505-1370G>A	-	IntronicSNV	-	19/23	1
3-138400332-C-G	c.2504+477G>C	-	IntronicSNV	-	19/23	2
3-138400332-C-T	c.2504+477G>A	-	IntronicSNV	-	19/23	2
3-138400782-GA-G	c.2504+26del	-	IntronicDeletion	-	19/23	1
3-138400782-G-GA	c.2504+26dup	-	IntronicInsertion	-	19/23	1
3-138400810-G-A	c.2503C>T	p.R835W	Missense	19/24	-	6
3-138400819-A-T	c.2494T>A	p.L832M	Missense	19/24	-	1
3-138400822-C-T	c.2491G>A	p.G831S	Missense	19/24	-	3
3-138400825-C-T	c.2488G>A	p.A830T	Missense	19/24	-	5
3-138400828-C-A	c.2485G>T	p.E829*	Nonsense	19/24	-	1
3-138400833-C-A	c.2480G>T	p.W827L	Missense	19/24	-	1
3-138400835-G-A	c.2478C>T	p.L826=	Synonymous	19/24	-	1
3-138400841-A-C	c.2472T>G	p.D824E	Missense	19/24	-	1
3-138400841-A-G	c.2472T>C	p.D824=	Synonymous	19/24	-	1
3-138400841-A-T	c.2472T>A	p.D824E	Missense	19/24	-	6
3-138400842-T-A	c.2471A>T	p.D824V	Missense	19/24	-	1
3-138400843-C-A	c.2470G>T	p.D824Y	Missense	19/24	-	1
3-138400843-C-T	c.2470G>A	p.D824N	Missense	19/24	-	1
3-138400850-G-A	c.2463C>T	p.R821=	Synonymous	19/24	-	2
3-138400851-C-A	c.2462G>T	p.R821L	Missense	19/24	-	1
3-138400851-C-G	c.2462G>C	p.R821P	Missense	19/24	-	1
3-138400852-CG-C	c.2461del	p.R821Afs*2	Frameshift	19/24	-	1
3-138400852-G-A	c.2461C>T	p.R821C	Missense	19/24	-	1
3-138400852-G-C	c.2461C>G	p.R821G	Missense	19/24	-	1
3-138400852-G-T	c.2461C>A	p.R821S	Missense	19/24	-	1
3-138400858-T-A	c.2455A>T	p.M819L	Missense	19/24	-	3
3-138400858-T-G	c.2455A>C	p.M819L	Missense	19/24	-	3
3-138400859-T-A	c.2454A>T	p.Q818H	Missense	19/24	-	2
3-138400859-T-G	c.2454A>C	p.Q818H	Missense	19/24	-	3
3-138400859-TTTG-T	c.2452_2454del	p.Q818del	InFrameDeletion	19/24	-	1
3-138400862-G-A	c.2451C>T	p.L817=	Synonymous	19/24	-	1
3-138400864-G-A	c.2449C>T	p.L817F	Missense	19/24	-	1
3-138400867-T-C	c.2446A>G	p.T816A	Missense	19/24	-	1
3-138400871-C-A	c.2442G>T	p.M814I	Missense	19/24	-	3
3-138400871-C-G	c.2442G>C	p.M814I	Missense	19/24	-	2
3-138400871-C-T	c.2442G>A	p.M814I	Missense	19/24	-	2
3-138400874-A-C	c.2439T>G	p.D813E	Missense	19/24	-	1
3-138400874-A-T	c.2439T>A	p.D813E	Missense	19/24	-	1
3-138400876-C-T	c.2437G>A	p.D813N	Missense	19/24	-	1
3-138400880-TCG-CCA	c.2431_2433delinsTGG	p.R811W	Missense	19/24	-	1
3-138400882-G-A	c.2431C>T	p.R811*	Nonsense	19/24	-	3
3-138401299-A-C	c.2426-412T>G	-	IntronicSNV	-	18/23	2
3-138401299-A-G	c.2426-412T>C	-	IntronicSNV	-	18/23	2
3-138402351-A-G	c.2425+169T>C	-	IntronicSNV	-	18/23	1
3-138402350-GA-G	c.2425+169del	-	IntronicDeletion	-	18/23	1
3-138402531-T-C	c.2414A>G	p.K805R	Missense	18/24	-	8
3-138402532-T-C	c.2413A>G	p.K805E	Missense	18/24	-	4
3-138402538-T-A	c.2407A>T	p.I803F	Missense	18/24	-	1
3-138402539-C-T	c.2406G>A	p.V802=	Synonymous	18/24	-	1
3-138402541-C-A	c.2404G>T	p.V802L	Missense	18/24	-	4
3-138402541-C-G	c.2404G>C	p.V802L	Missense	18/24	-	1
3-138402543-C-T	c.2402G>A	p.G801E	Missense	18/24	-	1
3-138402547-C-T	c.2398G>A	p.V800I	Missense	18/24	-	2
3-138402559-C-T	c.2386G>A	p.G796S	Missense	18/24	-	1
3-138402568-T-C	c.2377A>G	p.K793E	Missense	18/24	-	6
3-138402567-TTG-T	c.2376_2377del	p.N792Kfs*5	Frameshift	18/24	-	1
3-138402576-GT-G	c.2369del	p.Y790Sfs*13	Frameshift	18/24	-	1
3-138402579-A-C	c.2366T>G	p.V789G	Missense	18/24	-	3
3-138402580-C-T	c.2365G>A	p.V789I	Missense	18/24	-	1
3-138402587-C-T	c.2358G>A	p.L786=	Synonymous	18/24	-	1
3-138402591-G-T	c.2354C>A	p.P785H	Missense	18/24	-	3
3-138402592-G-C	c.2353C>G	p.P785A	Missense	18/24	-	1
3-138402596-C-A	c.2349G>T	p.M783I	Missense	18/24	-	1
3-138402596-C-G	c.2349G>C	p.M783I	Missense	18/24	-	1
3-138402596-C-T	c.2349G>A	p.M783I	Missense	18/24	-	1
3-138402603-G-C	c.2342C>G	p.S781C	Missense	18/24	-	1
3-138402607-C-A	c.2338G>T	p.D780Y	Missense	18/24	-	1
3-138402610-T-C	c.2335A>G	p.M779V	Missense	18/24	-	1
3-138402619-A-G	c.2326T>C	p.C776R	Missense	18/24	-	1
3-138402620-C-T	c.2325G>A	p.K775=	Synonymous	18/24	-	4
3-138402625-C-G	c.2320G>C	p.E774Q	Missense	18/24	-	1
3-138402628-C-A	c.2317G>T	p.V773F	Missense	18/24	-	1
3-138402628-C-G	c.2317G>C	p.V773L	Missense	18/24	-	2
3-138403390-C-T	c.2315+77G>A	-	IntronicSNV	-	17/23	4
3-138403474-C-T	c.2308G>A	p.E770K	Missense	17/24	-	1
3-138403475-TG-AA	c.2306_2307delinsTT	p.S769F	Missense	17/24	-	1
3-138403476-G-A	c.2306C>T	p.S769L	Missense	17/24	-	1
3-138403476-G-C	c.2306C>G	p.S769*	Nonsense	17/24	-	1
3-138403480-G-A	c.2302C>T	p.L768F	Missense	17/24	-	12
3-138403481-G-A	c.2301C>T	p.I767=	Synonymous	17/24	-	1
3-138403483-T-A	c.2299A>T	p.I767F	Missense	17/24	-	1
3-138403486-C-A	c.2296G>T	p.V766F	Missense	17/24	-	1
3-138403488-C-A	c.2294G>T	p.C765F	Missense	17/24	-	1
3-138403491-G-A	c.2291C>T	p.P764L	Missense	17/24	-	1
3-138403493-G-A	c.2289C>T	p.N763=	Synonymous	17/24	-	1
3-138403493-G-C	c.2289C>G	p.N763K	Missense	17/24	-	3
3-138403497-A-G	c.2285T>C	p.L762P	Missense	17/24	-	1
3-138403507-G-A	c.2275C>T	p.Q759*	Nonsense	17/24	-	1
3-138403508-C-T	c.2274G>A	p.L758=	Synonymous	17/24	-	1
3-138403510-G-T	c.2272C>A	p.L758M	Missense	17/24	-	1
3-138403511-G-A	c.2271C>T	p.D757=	Synonymous	17/24	-	2
3-138403513-C-CA	c.2268dup	p.D757*	Nonsense	17/24	-	1
3-138403515-G-C	c.2267C>G	p.S756C	Missense	17/24	-	1
3-138403521-G-A	c.2261C>T	p.A754V	Missense	17/24	-	1
3-138403527-C-A	c.2255G>T	p.R752L	Missense	17/24	-	2
3-138403527-CG-AT	c.2254_2255delinsAT	p.R752M	Missense	17/24	-	2
3-138403527-C-T	c.2255G>A	p.R752Q	Missense	17/24	-	1
3-138403528-G-A	c.2254C>T	p.R752W	Missense	17/24	-	1
3-138403529-G-A	c.2253C>T	p.Y751=	Synonymous	17/24	-	1
3-138403534-C-G	c.2248G>C	p.A750P	Missense	17/24	-	1
3-138403535-A-C	c.2247T>G	p.S749R	Missense	17/24	-	1
3-138403535-A-T	c.2247T>A	p.S749R	Missense	17/24	-	1
3-138403537-T-G	c.2245A>C	p.S749R	Missense	17/24	-	1
3-138403548-C-G	c.2234G>C	p.C745S	Missense	17/24	-	1
3-138403549-A-T	c.2233T>A	p.C745S	Missense	17/24	-	1
3-138403554-T-C	c.2228A>G	p.H743R	Missense	17/24	-	1
3-138403560-G-A	c.2222C>T	p.A741V	Missense	17/24	-	2
3-138403561-C-A	c.2221G>T	p.A741S	Missense	17/24	-	2
3-138403561-C-T	c.2221G>A	p.A741T	Missense	17/24	-	1
3-138403565-C-A	c.2217G>T	p.K739N	Missense	17/24	-	1
3-138403565-C-G	c.2217G>C	p.K739N	Missense	17/24	-	1
3-138403591-C-A	c.2191G>T	p.V731L	Missense	17/24	-	1
3-138403591-C-G	c.2191G>C	p.V731L	Missense	17/24	-	1
3-138403591-C-T	c.2191G>A	p.V731M	Missense	17/24	-	2
3-138403593-G-A	c.2189C>T	p.A730V	Missense	17/24	-	8
3-138403596-T-C	c.2186A>G	p.N729S	Missense	17/24	-	3
3-138403597-T-A	c.2185A>T	p.N729Y	Missense	17/24	-	1
3-138403604-G-C	c.2178C>G	p.I726M	Missense	17/24	-	1
3-138403607-T-A	c.2175A>T	p.L725F	Missense	17/24	-	3
3-138403607-T-G	c.2175A>C	p.L725F	Missense	17/24	-	3
3-138403608-A-G	c.2174T>C	p.L725S	Missense	17/24	-	1
3-138403611-C-A	c.2171G>T	p.S724I	Missense	17/24	-	1
3-138403620-G-A	c.2162C>T	p.T721I	Missense	17/24	-	1
3-138403621-T-G	c.2161A>C	p.T721P	Missense	17/24	-	1
3-138403622-T-A	c.2160A>T	p.K720N	Missense	17/24	-	1
3-138403622-T-G	c.2160A>C	p.K720N	Missense	17/24	-	3
3-138403629-T-C	c.2153A>G	p.K718R	Missense	17/24	-	3
3-138403630-T-C	c.2152A>G	p.K718E	Missense	17/24	-	1
3-138403632-T-C	c.2150A>G	p.N717S	Missense	17/24	-	7
3-138403636-G-T	c.2146C>A	p.L716I	Missense	17/24	-	1
3-138404262-A-G	c.2137-617T>C	-	IntronicSNV	-	16/23	1
3-138405597-A-G	c.2137-1952T>C	-	IntronicSNV	-	16/23	1
3-138407709-G-A	c.2136+8C>T	-	IntronicSNV	-	16/23	1
3-138407716-C-T	c.2136+1G>A	-	IntronicSNV	-	16/23	1
3-138407724-G-C	c.2129C>G	p.S710C	Missense	16/24	-	1
3-138407738-G-A	c.2115C>T	p.H705=	Synonymous	16/24	-	2
3-138407745-AC-TT	c.2107_2108delinsAA	p.V703K	Missense	16/24	-	1
3-138407747-ACTTCC-A	c.2101_2105del	p.G701Cfs*9	Frameshift	16/24	-	1
3-138407755-G-A	c.2098C>T	p.R700W	Missense	16/24	-	1
3-138407755-G-C	c.2098C>G	p.R700G	Missense	16/24	-	1
3-138407757-C-A	c.2096G>T	p.C699F	Missense	16/24	-	3
3-138407764-C-G	c.2089G>C	p.A697P	Missense	16/24	-	1
3-138407767-C-T	c.2086G>A	p.E696K	Missense	16/24	-	1
3-138407769-A-G	c.2084T>C	p.L695P	Missense	16/24	-	1
3-138407770-G-C	c.2083C>G	p.L695V	Missense	16/24	-	1
3-138407773-T-A	c.2080A>T	p.I694F	Missense	16/24	-	1
3-138407773-T-TA	c.2079_2080insT	p.I694Yfs*3	Frameshift	16/24	-	1
3-138407783-T-A	c.2070A>T	p.Q690H	Missense	16/24	-	2
3-138407783-T-G	c.2070A>C	p.Q690H	Missense	16/24	-	2
3-138407790-G-C	c.2063C>G	p.S688*	Nonsense	16/24	-	4
3-138407790-G-T	c.2063C>A	p.S688*	Nonsense	16/24	-	1
3-138407796-G-A	c.2057C>T	p.A686V	Missense	16/24	-	3
3-138407797-C-T	c.2056G>A	p.A686T	Missense	16/24	-	4
3-138407799-G-A	c.2054C>T	p.P685L	Missense	16/24	-	1
3-138407807-C-T	c.2046G>A	p.V682=	Synonymous	16/24	-	1
3-138407812-C-G	c.2041G>C	p.E681Q	Missense	16/24	-	1
3-138407816-C-T	c.2037G>A	p.R679=	Synonymous	16/24	-	2
3-138409176-C-T	c.2036+666G>A	-	IntronicSNV	-	15/23	1
3-138409200-GA-G	c.2036+641del	-	IntronicDeletion	-	15/23	1
3-138409842-C-A	c.2036G>T	p.R679M	Missense	15/24	-	2
3-138409844-A-G	c.2034T>C	p.L678=	Synonymous	15/24	-	1
3-138409846-G-C	c.2032C>G	p.L678V	Missense	15/24	-	1
3-138409851-C-A	c.2027G>T	p.W676L	Missense	15/24	-	1
3-138409852-A-G	c.2026T>C	p.W676R	Missense	15/24	-	1
3-138409852-A-T	c.2026T>A	p.W676R	Missense	15/24	-	1
3-138409854-A-C	c.2024T>G	p.F675C	Missense	15/24	-	1
3-138409857-A-G	c.2021T>C	p.L674P	Missense	15/24	-	4
3-138409862-C-A	c.2016G>T	p.Q672H	Missense	15/24	-	1
3-138409867-C-A	c.2011G>T	p.G671W	Missense	15/24	-	1
3-138409868-T-A	c.2010A>T	p.I670=	Synonymous	15/24	-	1
3-138409870-T-A	c.2008A>T	p.I670L	Missense	15/24	-	4
3-138409870-T-G	c.2008A>C	p.I670L	Missense	15/24	-	3
3-138409871-C-A	c.2007G>T	p.R669S	Missense	15/24	-	1
3-138409871-C-G	c.2007G>C	p.R669S	Missense	15/24	-	1
3-138409871-C-T	c.2007G>A	p.R669=	Synonymous	15/24	-	1
3-138409873-T-G	c.2005A>C	p.R669=	Synonymous	15/24	-	1
3-138409872-CT-TA	c.2005_2006delinsTA	p.R669*	Nonsense	15/24	-	1
3-138409875-C-T	c.2003G>A	p.R668Q	Missense	15/24	-	4
3-138409876-G-A	c.2002C>T	p.R668W	Missense	15/24	-	4
3-138409878-T-C	c.2000A>G	p.N667S	Missense	15/24	-	1
3-138409882-C-A	c.1996G>T	p.G666C	Missense	15/24	-	1
3-138409884-A-G	c.1994T>C	p.L665P	Missense	15/24	-	1
3-138409891-T-A	c.1987A>T	p.R663*	Nonsense	15/24	-	1
3-138409894-C-A	c.1984G>T	p.E662*	Nonsense	15/24	-	1
3-138409894-C-T	c.1984G>A	p.E662K	Missense	15/24	-	1
3-138409895-T-C	c.1983A>G	p.L661=	Synonymous	15/24	-	1
3-138409897-A-G	c.1981T>C	p.L661=	Synonymous	15/24	-	1
3-138409905-C-G	c.1973G>C	p.R658T	Missense	15/24	-	1
3-138409908-G-A	c.1970C>T	p.S657F	Missense	15/24	-	1
3-138409908-GA-TT	c.1969_1970delinsAA	p.S657N	Missense	15/24	-	1
3-138409908-G-C	c.1970C>G	p.S657C	Missense	15/24	-	1
3-138409912-G-A	c.1966C>T	p.L656F	Missense	15/24	-	1
3-138409912-G-C	c.1966C>G	p.L656V	Missense	15/24	-	2
3-138409920-T-C	c.1958A>G	p.D653G	Missense	15/24	-	1
3-138409924-G-A	c.1954C>T	p.L652F	Missense	15/24	-	3
3-138409931-C-A	c.1947G>T	p.E649D	Missense	15/24	-	1
3-138409931-C-G	c.1947G>C	p.E649D	Missense	15/24	-	1
3-138409939-T-G	c.1939A>C	p.K647Q	Missense	15/24	-	1
3-138409943-CAC-GAT	c.1933_1935delinsATC	p.V645I	Missense	15/24	-	1
3-138409943-C-T	c.1935G>A	p.V645=	Synonymous	15/24	-	1
3-138409944-A-G	c.1934T>C	p.V645A	Missense	15/24	-	1
3-138409945-C-A	c.1933G>T	p.V645L	Missense	15/24	-	1
3-138409945-C-G	c.1933G>C	p.V645L	Missense	15/24	-	1
3-138409946-T-A	c.1932A>T	p.Q644H	Missense	15/24	-	1
3-138409946-T-G	c.1932A>C	p.Q644H	Missense	15/24	-	1
3-138409963-G-T	c.1915C>A	p.L639I	Missense	15/24	-	2
3-138409964-A-T	c.1914T>A	p.Y638*	Nonsense	15/24	-	1
3-138409972-A-G	c.1906T>C	p.S636P	Missense	15/24	-	1
3-138409974-A-G	c.1904T>C	p.L635P	Missense	15/24	-	1
3-138409981-C-T	c.1897G>A	p.E633K	Missense	15/24	-	8
3-138412248-AT-A	c.1892+1379del	-	IntronicDeletion	-	14/23	1
3-138413629-T-G	c.1891A>C	p.S631R	Missense	14/24	-	1
3-138413630-C-G	c.1890G>C	p.M630I	Missense	14/24	-	1
3-138413631-A-C	c.1889T>G	p.M630R	Missense	14/24	-	1
3-138413637-C-T	c.1883G>A	p.R628Q	Missense	14/24	-	5
3-138413638-G-A	c.1882C>T	p.R628*	Nonsense	14/24	-	4
3-138413659-C-A	c.1861G>T	p.E621*	Nonsense	14/24	-	1
3-138413659-C-T	c.1861G>A	p.E621K	Missense	14/24	-	1
3-138413660-T-C	c.1860A>G	p.R620=	Synonymous	14/24	-	3
3-138413661-C-T	c.1859G>A	p.R620Q	Missense	14/24	-	1
3-138413660-T-A	c.1860A>T	p.R620=	Synonymous	14/24	-	1
3-138413660-T-G	c.1860A>C	p.R620=	Synonymous	14/24	-	1
3-138413662-G-A	c.1858C>T	p.R620*	Nonsense	14/24	-	1
3-138413662-G-T	c.1858C>A	p.R620=	Synonymous	14/24	-	1
3-138413664-A-G	c.1856T>C	p.V619A	Missense	14/24	-	6
3-138413665-C-T	c.1855G>A	p.V619I	Missense	14/24	-	1
3-138413668-A-G	c.1852T>C	p.Y618H	Missense	14/24	-	2
3-138413677-G-A	c.1843C>T	p.P615S	Missense	14/24	-	3
3-138413677-G-C	c.1843C>G	p.P615A	Missense	14/24	-	1
3-138413681-G-A	c.1839C>T	p.N613=	Synonymous	14/24	-	1
3-138413683-T-A	c.1837A>T	p.N613Y	Missense	14/24	-	1
3-138413684-G-C	c.1836C>G	p.F612L	Missense	14/24	-	1
3-138413684-G-T	c.1836C>A	p.F612L	Missense	14/24	-	1
3-138413688-T-A	c.1832A>T	p.D611V	Missense	14/24	-	4
3-138413689-C-T	c.1831G>A	p.D611N	Missense	14/24	-	1
3-138413690-C-A	c.1830G>T	p.L610=	Synonymous	14/24	-	1
3-138413690-CA-AT	c.1829_1830delinsAT	p.L610H	Missense	14/24	-	1
3-138413690-C-T	c.1830G>A	p.L610=	Synonymous	14/24	-	1
3-138413703-G-A	c.1817C>T	p.A606V	Missense	14/24	-	1
3-138413704-C-T	c.1816G>A	p.A606T	Missense	14/24	-	1
3-138413707-C-A	c.1813G>T	p.E605*	Nonsense	14/24	-	1
3-138413707-C-T	c.1813G>A	p.E605K	Missense	14/24	-	1
3-138413709-C-A	c.1811G>T	p.R604L	Missense	14/24	-	1
3-138413709-C-G	c.1811G>C	p.R604P	Missense	14/24	-	3
3-138413709-C-T	c.1811G>A	p.R604Q	Missense	14/24	-	3
3-138413710-G-A	c.1810C>T	p.R604W	Missense	14/24	-	3
3-138413710-G-C	c.1810C>G	p.R604G	Missense	14/24	-	1
3-138413711-G-A	c.1809C>T	p.P603=	Synonymous	14/24	-	3
3-138413711-G-C	c.1809C>G	p.P603=	Synonymous	14/24	-	1
3-138413711-G-T	c.1809C>A	p.P603=	Synonymous	14/24	-	1
3-138413712-G-A	c.1808C>T	p.P603L	Missense	14/24	-	1
3-138413712-G-C	c.1808C>G	p.P603R	Missense	14/24	-	1
3-138413714-G-A	c.1806C>T	p.P602=	Synonymous	14/24	-	1
3-138413709-C-CG	c.1810dup	p.R604Pfs*29	Frameshift	14/24	-	8
3-138413709-CG-C	c.1810del	p.R604Gfs*4	Frameshift	14/24	-	3
3-138413719-G-A	c.1801C>T	p.L601=	Synonymous	14/24	-	1
3-138413729-A-C	c.1791T>G	p.I597M	Missense	14/24	-	2
3-138413730-A-C	c.1790T>G	p.I597S	Missense	14/24	-	1
3-138413731-T-A	c.1789A>T	p.I597F	Missense	14/24	-	1
3-138413732-C-A	c.1788G>T	p.Q596H	Missense	14/24	-	2
3-138413732-C-G	c.1788G>C	p.Q596H	Missense	14/24	-	2
3-138413732-CTG-ACA	c.1786_1788delinsTGT	p.Q596C	Missense	14/24	-	1
3-138413734-G-A	c.1786C>T	p.Q596*	Nonsense	14/24	-	6
3-138413735-AAG-CAT	c.1783_1785delinsATG	p.L595M	Missense	14/24	-	1
3-138413736-A-G	c.1784T>C	p.L595P	Missense	14/24	-	6
3-138413742-G-A	c.1778C>T	p.A593V	Missense	14/24	-	1
3-138413743-C-G	c.1777G>C	p.A593P	Missense	14/24	-	2
3-138413744-C-G	c.1776G>C	p.Q592H	Missense	14/24	-	1
3-138413746-G-A	c.1774C>T	p.Q592*	Nonsense	14/24	-	1
3-138413748-A-C	c.1772T>G	p.L591R	Missense	14/24	-	1
3-138417751-G-T	c.1768C>A	p.Q590K	Missense	13/24	-	1
3-138417757-C-T	c.1762G>A	p.V588I	Missense	13/24	-	2
3-138417766-G-A	c.1753C>T	p.L585F	Missense	13/24	-	1
3-138417766-GT-G	c.1752del	p.K584Nfs*24	Frameshift	13/24	-	1
3-138417771-T-C	c.1748A>G	p.N583S	Missense	13/24	-	1
3-138417773-C-T	c.1746G>A	p.W582*	Nonsense	13/24	-	1
3-138417774-C-T	c.1745G>A	p.W582*	Nonsense	13/24	-	6
3-138417775-A-G	c.1744T>C	p.W582R	Missense	13/24	-	4
3-138417775-A-T	c.1744T>A	p.W582R	Missense	13/24	-	3
3-138417776-C-T	c.1743G>A	p.K581=	Synonymous	13/24	-	1
3-138417781-T-C	c.1738A>G	p.I580V	Missense	13/24	-	2
3-138417785-C-A	c.1734G>T	p.L578=	Synonymous	13/24	-	3
3-138417785-C-G	c.1734G>C	p.L578=	Synonymous	13/24	-	1
3-138417785-C-T	c.1734G>A	p.L578=	Synonymous	13/24	-	1
3-138417787-G-A	c.1732C>T	p.L578=	Synonymous	13/24	-	1
3-138417790-G-T	c.1729C>A	p.L577M	Missense	13/24	-	1
3-138417809-T-C	c.1710A>G	p.P570=	Synonymous	13/24	-	1
3-138417812-G-T	c.1707C>A	p.F569L	Missense	13/24	-	1
3-138417813-A-C	c.1706T>G	p.F569C	Missense	13/24	-	1
3-138417818-C-A	c.1701G>T	p.E567D	Missense	13/24	-	4
3-138417818-C-G	c.1701G>C	p.E567D	Missense	13/24	-	5
3-138417822-CG-AT	c.1696_1697delinsAT	p.R566I	Missense	13/24	-	2
3-138417823-G-A	c.1696C>T	p.R566*	Nonsense	13/24	-	3
3-138417826-A-G	c.1693T>C	p.C565R	Missense	13/24	-	1
3-138417829-C-G	c.1690G>C	p.D564H	Missense	13/24	-	1
3-138417830-T-C	c.1689A>G	p.Q563=	Synonymous	13/24	-	1
3-138417834-C-G	c.1685G>C	p.R562P	Missense	13/24	-	1
3-138417834-CG-TT	c.1684_1685delinsAA	p.R562K	Missense	13/24	-	1
3-138417834-C-T	c.1685G>A	p.R562Q	Missense	13/24	-	9
3-138417835-G-A	c.1684C>T	p.R562*	Nonsense	13/24	-	6
3-138417835-G-C	c.1684C>G	p.R562G	Missense	13/24	-	3
3-138417837-A-C	c.1682T>G	p.L561W	Missense	13/24	-	1
3-138417844-A-G	c.1675T>C	p.W559R	Missense	13/24	-	4
3-138417847-T-G	c.1672A>C	p.I558L	Missense	13/24	-	1
3-138417851-A-C	c.1668T>G	p.D556E	Missense	13/24	-	1
3-138417851-A-T	c.1668T>A	p.D556E	Missense	13/24	-	1
3-138417853-C-A	c.1666G>T	p.D556Y	Missense	13/24	-	1
3-138417856-T-C	c.1663A>G	p.M555V	Missense	13/24	-	1
3-138417858-T-C	c.1661A>G	p.E554G	Missense	13/24	-	5
3-138417859-C-T	c.1660G>A	p.E554K	Missense	13/24	-	6
3-138417860-CATT-C	c.1657_1659del	p.N553del	InFrameDeletion	13/24	-	1
3-138417861-T-C	c.1658A>G	p.N553S	Missense	13/24	-	13
3-138417862-T-C	c.1657A>G	p.N553D	Missense	13/24	-	1
3-138417864-T-C	c.1655A>G	p.E552G	Missense	13/24	-	1
3-138417865-C-T	c.1654G>A	p.E552K	Missense	13/24	-	19
3-138417867-C-G	c.1652G>C	p.C551S	Missense	13/24	-	1
3-138417867-C-T	c.1652G>A	p.C551Y	Missense	13/24	-	3
3-138417868-A-G	c.1651T>C	p.C551R	Missense	13/24	-	8
3-138417874-G-A	c.1645C>T	p.Q549*	Nonsense	13/24	-	1
3-138417878-C-T	c.1641G>A	p.L547=	Synonymous	13/24	-	1
3-138417883-G-A	c.1636C>T	p.P546S	Missense	13/24	-	1
3-138417883-G-T	c.1636C>A	p.P546T	Missense	13/24	-	1
3-138417890-G-T	c.1629C>A	p.D543E	Missense	13/24	-	1
3-138417891-T-C	c.1628A>G	p.D543G	Missense	13/24	-	2
3-138417892-C-T	c.1627G>A	p.D543N	Missense	13/24	-	2
3-138417896-G-C	c.1623C>G	p.I541M	Missense	13/24	-	1
3-138417897-AT-A	c.1621del	p.I541Sfs*67	Frameshift	13/24	-	1
3-138417900-T-A	c.1619A>T	p.E540V	Missense	13/24	-	1
3-138417901-C-A	c.1618G>T	p.E540*	Nonsense	13/24	-	3
3-138417901-C-G	c.1618G>C	p.E540Q	Missense	13/24	-	1
3-138417901-C-T	c.1618G>A	p.E540K	Missense	13/24	-	1
3-138417905-C-A	c.1614G>T	p.L538F	Missense	13/24	-	1
3-138417907-A-T	c.1612T>A	p.L538M	Missense	13/24	-	1
3-138417910-C-A	c.1609G>T	p.V537L	Missense	13/24	-	1
3-138417912-G-A	c.1607C>T	p.P536L	Missense	13/24	-	2
3-138417913-G-A	c.1606C>T	p.P536S	Missense	13/24	-	1
3-138417915-A-C	c.1604T>G	p.L535R	Missense	13/24	-	2
3-138417917-A-C	c.1602T>G	p.F534L	Missense	13/24	-	1
3-138417917-A-T	c.1602T>A	p.F534L	Missense	13/24	-	1
3-138417919-A-G	c.1600T>C	p.F534L	Missense	13/24	-	1
3-138417922-T-A	c.1597A>T	p.K533*	Nonsense	13/24	-	1
3-138417922-T-C	c.1597A>G	p.K533E	Missense	13/24	-	1
3-138417922-T-TA	c.1596_1597insT	p.K533*	Nonsense	13/24	-	1
3-138417923-TTT-GTC	c.1594_1596delinsGAC	p.K532D	Missense	13/24	-	1
3-138417927-C-A	c.1592G>T	p.G531V	Missense	13/24	-	1
3-138417933-C-T	c.1586G>A	p.R529Q	Missense	13/24	-	2
3-138417934-G-A	c.1585C>T	p.R529*	Nonsense	13/24	-	3
3-138417936-C-G	c.1583G>C	p.S528T	Missense	13/24	-	2
3-138417989-G-A	c.1582-52C>T	-	IntronicSNV	-	12/23	4
3-138417989-G-T	c.1582-52C>A	-	IntronicSNV	-	12/23	4
3-138418082-T-A	c.1582-145A>T	-	IntronicSNV	-	12/23	1
3-138418082-T-C	c.1582-145A>G	-	IntronicSNV	-	12/23	1
3-138418082-T-G	c.1582-145A>C	-	IntronicSNV	-	12/23	1
3-138423286-G-A	c.1580C>T	p.S527L	Missense	12/24	-	1
3-138423290-C-A	c.1576G>T	p.V526L	Missense	12/24	-	1
3-138423290-C-G	c.1576G>C	p.V526L	Missense	12/24	-	1
3-138423290-CATT-C	c.1573_1575del	p.N525del	InFrameDeletion	12/24	-	3
3-138423296-C-T	c.1570G>A	p.A524T	Missense	12/24	-	1
3-138423299-T-G	c.1567A>C	p.S523R	Missense	12/24	-	1
3-138423301-T-TCAG	c.1564_1565insCTG	p.S521_D522insA	InFrameInsertion	12/24	-	3
3-138423303-A-C	c.1563T>G	p.S521R	Missense	12/24	-	4
3-138423304-C-A	c.1562G>T	p.S521I	Missense	12/24	-	1
3-138423304-C-T	c.1562G>A	p.S521N	Missense	12/24	-	1
3-138423308-T-C	c.1558A>G	p.S520G	Missense	12/24	-	3
3-138423313-A-G	c.1553T>C	p.I518T	Missense	12/24	-	1
3-138423323-C-T	c.1543G>A	p.A515T	Missense	12/24	-	2
3-138423330-A-C	c.1536T>G	p.I512M	Missense	12/24	-	7
3-138423334-A-T	c.1532T>A	p.I511N	Missense	12/24	-	1
3-138426003-T-G	c.1528A>C	p.K510Q	Missense	11/24	-	1
3-138426006-C-T	c.1525G>A	p.D509N	Missense	11/24	-	2
3-138426007-G-A	c.1524C>T	p.F508=	Synonymous	11/24	-	7
3-138426011-G-A	c.1520C>T	p.P507L	Missense	11/24	-	1
3-138426012-G-A	c.1519C>T	p.P507S	Missense	11/24	-	1
3-138426017-T-G	c.1514A>C	p.Y505S	Missense	11/24	-	1
3-138426019-A-T	c.1512T>A	p.Y504*	Nonsense	11/24	-	1
3-138426020-T-C	c.1511A>G	p.Y504C	Missense	11/24	-	1
3-138426021-A-T	c.1510T>A	p.Y504N	Missense	11/24	-	1
3-138426023-T-A	c.1508A>T	p.Y503F	Missense	11/24	-	1
3-138426026-G-T	c.1505C>A	p.P502H	Missense	11/24	-	1
3-138426027-G-A	c.1504C>T	p.P502S	Missense	11/24	-	1
3-138426029-T-C	c.1502A>G	p.Q501R	Missense	11/24	-	1
3-138426031-T-A	c.1500A>T	p.K500N	Missense	11/24	-	1
3-138426031-T-G	c.1500A>C	p.K500N	Missense	11/24	-	1
3-138426036-T-C	c.1495A>G	p.K499E	Missense	11/24	-	1
3-138426040-C-A	c.1491G>T	p.E497D	Missense	11/24	-	12
3-138426040-C-G	c.1491G>C	p.E497D	Missense	11/24	-	13
3-138426042-C-G	c.1489G>C	p.E497Q	Missense	11/24	-	1
3-138426042-C-T	c.1489G>A	p.E497K	Missense	11/24	-	1
3-138426053-A-G	c.1478T>C	p.V493A	Missense	11/24	-	4
3-138426058-C-T	c.1473G>A	p.L491=	Synonymous	11/24	-	1
3-138426063-C-A	c.1468G>T	p.A490S	Missense	11/24	-	1
3-138426069-C-T	c.1462G>A	p.A488T	Missense	11/24	-	5
3-138426070-A-C	c.1461T>G	p.N487K	Missense	11/24	-	1
3-138426070-A-T	c.1461T>A	p.N487K	Missense	11/24	-	1
3-138426080-T-C	c.1451A>G	p.Y484C	Missense	11/24	-	2
3-138426083-G-A	c.1448C>T	p.P483L	Missense	11/24	-	1
3-138426084-G-A	c.1447C>T	p.P483S	Missense	11/24	-	2
3-138426088-T-A	c.1443A>T	p.T481=	Synonymous	11/24	-	1
3-138426088-T-C	c.1443A>G	p.T481=	Synonymous	11/24	-	1
3-138426088-T-G	c.1443A>C	p.T481=	Synonymous	11/24	-	1
3-138426088-TG-CA	c.1442_1443inv	p.T481M	Missense	11/24	-	1
3-138426096-C-T	c.1435G>A	p.V479I	Missense	11/24	-	1
3-138426098-G-A	c.1433C>T	p.T478I	Missense	11/24	-	1
3-138426098-G-C	c.1433C>G	p.T478S	Missense	11/24	-	1
3-138426098-GTTCCCA-G	c.1427_1432del	p.M476_G477del	InFrameDeletion	11/24	-	1
3-138426103-C-A	c.1428G>T	p.M476I	Missense	11/24	-	1
3-138426103-C-G	c.1428G>C	p.M476I	Missense	11/24	-	1
3-138426103-C-T	c.1428G>A	p.M476I	Missense	11/24	-	1
3-138426120-C-T	c.1411G>A	p.E471K	Missense	11/24	-	1
3-138426123-C-T	c.1408G>A	p.E470K	Missense	11/24	-	10
3-138426124-G-A	c.1407C>T	p.L469=	Synonymous	11/24	-	1
3-138426129-C-T	c.1402G>A	p.E468K	Missense	11/24	-	1
3-138426130-A-C	c.1401T>G	p.D467E	Missense	11/24	-	1
3-138426130-A-G	c.1401T>C	p.D467=	Synonymous	11/24	-	1
3-138426130-A-T	c.1401T>A	p.D467E	Missense	11/24	-	1
3-138426411-T-C	c.1400-280A>G	-	IntronicSNV	-	10/23	1
3-138426411-T-G	c.1400-280A>C	-	IntronicSNV	-	10/23	1
3-138426428-T-C	c.1400-297A>G	-	IntronicSNV	-	10/23	6
3-138427924-A-C	c.1400-1793T>G	-	IntronicSNV	-	10/23	1
3-138430999-T-C	c.1399+51A>G	-	IntronicSNV	-	10/23	1
3-138431051-A-C	c.1398T>G	p.P466=	Synonymous	10/24	-	1
3-138431051-A-G	c.1398T>C	p.P466=	Synonymous	10/24	-	1
3-138431051-A-T	c.1398T>A	p.P466=	Synonymous	10/24	-	1
3-138431052-G-T	c.1397C>A	p.P466H	Missense	10/24	-	4
3-138431053-G-C	c.1396C>G	p.P466A	Missense	10/24	-	2
3-138431056-A-C	c.1393T>G	p.F465V	Missense	10/24	-	1
3-138431058-G-A	c.1391C>T	p.S464L	Missense	10/24	-	1
3-138431061-G-A	c.1388C>T	p.S463F	Missense	10/24	-	1
3-138431064-C-A	c.1385G>T	p.W462L	Missense	10/24	-	1
3-138431064-C-G	c.1385G>C	p.W462S	Missense	10/24	-	3
3-138431065-A-C	c.1384T>G	p.W462G	Missense	10/24	-	1
3-138431070-T-C	c.1379A>G	p.H460R	Missense	10/24	-	1
3-138431080-T-C	c.1369A>G	p.I457V	Missense	10/24	-	1
3-138431081-G-C	c.1368C>G	p.D456E	Missense	10/24	-	1
3-138431083-C-A	c.1366G>T	p.D456Y	Missense	10/24	-	1
3-138431086-C-A	c.1363G>T	p.G455*	Nonsense	10/24	-	1
3-138431090-T-G	c.1359A>C	p.R453S	Missense	10/24	-	1
3-138431092-T-TA	c.1356_1357insT	p.R453*	Nonsense	10/24	-	1
3-138431097-T-G	c.1352A>C	p.Q451P	Missense	10/24	-	1
3-138431100-C-T	c.1349G>A	p.G450E	Missense	10/24	-	1
3-138431103-T-C	c.1346A>G	p.K449R	Missense	10/24	-	1
3-138431109-T-C	c.1340A>G	p.D447G	Missense	10/24	-	1
3-138431112-A-C	c.1337T>G	p.F446C	Missense	10/24	-	1
3-138431116-C-T	c.1333G>A	p.V445I	Missense	10/24	-	1
3-138431117-C-A	c.1332G>T	p.M444I	Missense	10/24	-	1
3-138431117-C-G	c.1332G>C	p.M444I	Missense	10/24	-	1
3-138431117-C-T	c.1332G>A	p.M444I	Missense	10/24	-	1
3-138431118-A-G	c.1331T>C	p.M444T	Missense	10/24	-	1
3-138431122-T-C	c.1327A>G	p.T443A	Missense	10/24	-	1
3-138431123-A-C	c.1326T>G	p.N442K	Missense	10/24	-	4
3-138431123-A-T	c.1326T>A	p.N442K	Missense	10/24	-	5
3-138431127-A-G	c.1322T>C	p.V441A	Missense	10/24	-	2
3-138431129-C-A	c.1320G>T	p.W440C	Missense	10/24	-	1
3-138431129-C-G	c.1320G>C	p.W440C	Missense	10/24	-	1
3-138431130-C-G	c.1319G>C	p.W440S	Missense	10/24	-	3
3-138431131-A-G	c.1318T>C	p.W440R	Missense	10/24	-	1
3-138431132-C-A	c.1317G>T	p.A439=	Synonymous	10/24	-	1
3-138431132-C-G	c.1317G>C	p.A439=	Synonymous	10/24	-	1
3-138431132-C-T	c.1317G>A	p.A439=	Synonymous	10/24	-	2
3-138431133-G-A	c.1316C>T	p.A439V	Missense	10/24	-	2
3-138431134-C-T	c.1315G>A	p.A439T	Missense	10/24	-	1
3-138431146-G-A	c.1303C>T	p.H435Y	Missense	10/24	-	1
3-138433216-T-TA	c.1302+93dup	-	IntronicInsertion	-	9/23	1
3-138433270-C-A	c.1302+40G>T	-	IntronicSNV	-	9/23	1
3-138433270-C-T	c.1302+40G>A	-	IntronicSNV	-	9/23	1
3-138433314-T-C	c.1298A>G	p.K433R	Missense	9/24	-	1
3-138433317-C-T	c.1295G>A	p.G432E	Missense	9/24	-	1
3-138433321-C-T	c.1291G>A	p.A431T	Missense	9/24	-	1
3-138433330-T-A	c.1282A>T	p.I428F	Missense	9/24	-	1
3-138433333-T-A	c.1279A>T	p.T427S	Missense	9/24	-	1
3-138433334-C-A	c.1278G>T	p.Q426H	Missense	9/24	-	1
3-138433334-C-G	c.1278G>C	p.Q426H	Missense	9/24	-	1
3-138433337-A-T	c.1275T>A	p.Y425*	Nonsense	9/24	-	1
3-138433338-T-G	c.1274A>C	p.Y425S	Missense	9/24	-	1
3-138433339-A-T	c.1273T>A	p.Y425N	Missense	9/24	-	1
3-138433341-T-C	c.1271A>G	p.K424R	Missense	9/24	-	1
3-138433346-G-A	c.1266C>T	p.P422=	Synonymous	9/24	-	2
3-138433346-G-C	c.1266C>G	p.P422=	Synonymous	9/24	-	1
3-138433346-G-T	c.1266C>A	p.P422=	Synonymous	9/24	-	1
3-138433348-G-A	c.1264C>T	p.P422S	Missense	9/24	-	2
3-138433348-G-T	c.1264C>A	p.P422T	Missense	9/24	-	1
3-138433350-T-C	c.1262A>G	p.N421S	Missense	9/24	-	1
3-138433350-T-G	c.1262A>C	p.N421T	Missense	9/24	-	3
3-138433351-T-G	c.1261A>C	p.N421H	Missense	9/24	-	5
3-138433353-A-G	c.1259T>C	p.I420T	Missense	9/24	-	1
3-138433354-T-C	c.1258A>G	p.I420V	Missense	9/24	-	1
3-138433361-C-A	c.1251G>T	p.T417=	Synonymous	9/24	-	4
3-138433361-C-G	c.1251G>C	p.T417=	Synonymous	9/24	-	4
3-138433361-CG-GA	c.1250_1251delinsTC	p.T417I	Missense	9/24	-	1
3-138433361-C-T	c.1251G>A	p.T417=	Synonymous	9/24	-	6
3-138433362-G-A	c.1250C>T	p.T417M	Missense	9/24	-	7
3-138433363-T-C	c.1249A>G	p.T417A	Missense	9/24	-	1
3-138433364-T-A	c.1248A>T	p.S416=	Synonymous	9/24	-	1
3-138433364-T-C	c.1248A>G	p.S416=	Synonymous	9/24	-	1
3-138433364-T-G	c.1248A>C	p.S416=	Synonymous	9/24	-	1
3-138433365-G-T	c.1247C>A	p.S416*	Nonsense	9/24	-	1
3-138433369-T-G	c.1243A>C	p.K415Q	Missense	9/24	-	2
3-138433373-C-A	c.1239G>T	p.T413=	Synonymous	9/24	-	1
3-138433373-C-G	c.1239G>C	p.T413=	Synonymous	9/24	-	1
3-138433373-C-T	c.1239G>A	p.T413=	Synonymous	9/24	-	2
3-138433374-G-A	c.1238C>T	p.T413M	Missense	9/24	-	1
3-138433377-T-G	c.1235A>C	p.K412T	Missense	9/24	-	2
3-138433380-A-T	c.1232T>A	p.V411E	Missense	9/24	-	1
3-138433393-C-T	c.1219G>A	p.V407I	Missense	9/24	-	1
3-138433395-G-A	c.1217C>T	p.A406V	Missense	9/24	-	1
3-138433396-C-A	c.1216G>T	p.A406S	Missense	9/24	-	1
3-138433396-C-T	c.1216G>A	p.A406T	Missense	9/24	-	1
3-138433403-A-G	c.1209T>C	p.A403=	Synonymous	9/24	-	1
3-138433416-C-T	c.1196G>A	p.R399Q	Missense	9/24	-	4
3-138433417-G-A	c.1195C>T	p.R399*	Nonsense	9/24	-	2
3-138433419-G-A	c.1193C>T	p.A398V	Missense	9/24	-	2
3-138433420-C-T	c.1192G>A	p.A398T	Missense	9/24	-	1
3-138433425-C-G	c.1187G>C	p.R396T	Missense	9/24	-	1
3-138433425-C-T	c.1187G>A	p.R396K	Missense	9/24	-	1
3-138433425-CT-TG	c.1186_1187delinsCA	p.R396Q	Missense	9/24	-	1
3-138433429-G-A	c.1183C>T	p.P395S	Missense	9/24	-	1
3-138433437-C-T	c.1175G>A	p.C392Y	Missense	9/24	-	1
3-138433447-T-C	c.1165A>G	p.I389V	Missense	9/24	-	2
3-138433450-C-G	c.1162G>C	p.D388H	Missense	9/24	-	1
3-138433450-C-T	c.1162G>A	p.D388N	Missense	9/24	-	1
3-138433461-G-T	c.1151C>A	p.P384Q	Missense	9/24	-	2
3-138433464-T-G	c.1148A>C	p.E383A	Missense	9/24	-	1
3-138433465-C-A	c.1147G>T	p.E383*	Nonsense	9/24	-	1
3-138433469-C-T	c.1143G>A	p.W381*	Nonsense	9/24	-	1
3-138433470-C-T	c.1142G>A	p.W381*	Nonsense	9/24	-	1
3-138433472-A-C	c.1140T>G	p.I380M	Missense	9/24	-	1
3-138433474-T-G	c.1138A>C	p.I380L	Missense	9/24	-	1
3-138433477-G-A	c.1135C>T	p.H379Y	Missense	9/24	-	4
3-138433479-TC-AG	c.1132_1133delinsCT	p.D378L	Missense	9/24	-	1
3-138433485-T-G	c.1127A>C	p.K376T	Missense	9/24	-	1
3-138433481-AT-A	c.1130del	p.N377Mfs*35	Frameshift	9/24	-	1
3-138433487-C-A	c.1125G>T	p.G375=	Synonymous	9/24	-	1
3-138433487-C-G	c.1125G>C	p.G375=	Synonymous	9/24	-	1
3-138433487-C-T	c.1125G>A	p.G375=	Synonymous	9/24	-	1
3-138433489-C-A	c.1123G>T	p.G375W	Missense	9/24	-	1
3-138433495-C-T	c.1117G>A	p.V373I	Missense	9/24	-	2
3-138433496-C-A	c.1116G>T	p.E372D	Missense	9/24	-	1
3-138433496-C-G	c.1116G>C	p.E372D	Missense	9/24	-	2
3-138433502-G-C	c.1110C>G	p.S370R	Missense	9/24	-	1
3-138433505-T-A	c.1107A>T	p.V369=	Synonymous	9/24	-	1
3-138433506-A-G	c.1106T>C	p.V369A	Missense	9/24	-	1
3-138433507-C-A	c.1105G>T	p.V369L	Missense	9/24	-	2
3-138433507-C-G	c.1105G>C	p.V369L	Missense	9/24	-	4
3-138433507-C-T	c.1105G>A	p.V369I	Missense	9/24	-	4
3-138433508-G-A	c.1104C>T	p.I368=	Synonymous	9/24	-	4
3-138433508-G-T	c.1104C>A	p.I368=	Synonymous	9/24	-	2
3-138433510-T-C	c.1102A>G	p.I368V	Missense	9/24	-	1
3-138433510-T-G	c.1102A>C	p.I368L	Missense	9/24	-	1
3-138433511-GG-CA	c.1100_1101delinsTG	p.T367M	Missense	9/24	-	1
3-138433514-T-A	c.1098A>T	p.K366N	Missense	9/24	-	1
3-138433514-T-G	c.1098A>C	p.K366N	Missense	9/24	-	1
3-138433515-T-A	c.1097A>T	p.K366I	Missense	9/24	-	1
3-138433521-AG-CA	c.1090_1091delinsTG	p.L364W	Missense	9/24	-	1
3-138433523-G-A	c.1089C>T	p.L363=	Synonymous	9/24	-	1
3-138433523-G-C	c.1089C>G	p.L363=	Synonymous	9/24	-	1
3-138433523-G-T	c.1089C>A	p.L363=	Synonymous	9/24	-	1
3-138433526-C-T	c.1086G>A	p.E362=	Synonymous	9/24	-	1
3-138433528-C-T	c.1084G>A	p.E362K	Missense	9/24	-	2
3-138433529-A-G	c.1083T>C	p.T361=	Synonymous	9/24	-	1
3-138433532-A-C	c.1080T>G	p.G360=	Synonymous	9/24	-	2
3-138433532-A-G	c.1080T>C	p.G360=	Synonymous	9/24	-	3
3-138433532-A-T	c.1080T>A	p.G360=	Synonymous	9/24	-	2
3-138433533-C-A	c.1079G>T	p.G360V	Missense	9/24	-	1
3-138433534-C-A	c.1078G>T	p.G360C	Missense	9/24	-	1
3-138433537-G-A	c.1075C>T	p.H359Y	Missense	9/24	-	2
3-138433537-G-C	c.1075C>G	p.H359D	Missense	9/24	-	1
3-138433546-C-A	c.1066G>T	p.G356C	Missense	9/24	-	1
3-138433547-A-C	c.1065T>G	p.A355=	Synonymous	9/24	-	1
3-138433547-A-G	c.1065T>C	p.A355=	Synonymous	9/24	-	1
3-138433547-A-T	c.1065T>A	p.A355=	Synonymous	9/24	-	1
3-138433548-G-A	c.1064C>T	p.A355V	Missense	9/24	-	1
3-138433548-G-C	c.1064C>G	p.A355G	Missense	9/24	-	1
3-138433553-G-T	c.1059C>A	p.V353=	Synonymous	9/24	-	1
3-138433554-A-G	c.1058T>C	p.V353A	Missense	9/24	-	2
3-138433555-C-A	c.1057G>T	p.V353F	Missense	9/24	-	1
3-138433568-C-T	c.1051-7G>A	-	IntronicSNV	-	8/23	8
3-138451352-T-G	c.1050+851A>C	-	IntronicSNV	-	8/23	4
3-138451913-T-C	c.1050+290A>G	-	IntronicSNV	-	8/23	1
3-138452207-A-T	c.1046T>A	p.V349E	Missense	8/24	-	1
3-138452210-G-A	c.1043C>T	p.T348I	Missense	8/24	-	3
3-138452213-T-C	c.1040A>G	p.E347G	Missense	8/24	-	2
3-138452216-T-A	c.1037A>T	p.E346V	Missense	8/24	-	1
3-138452225-A-C	c.1028T>G	p.L343R	Missense	8/24	-	1
3-138452225-A-G	c.1028T>C	p.L343P	Missense	8/24	-	1
3-138452232-T-G	c.1021A>C	p.N341H	Missense	8/24	-	1
3-138452236-C-A	c.1017G>T	p.K339N	Missense	8/24	-	2
3-138452254-G-C	c.999C>G	p.F333L	Missense	8/24	-	1
3-138452254-G-T	c.999C>A	p.F333L	Missense	8/24	-	1
3-138452256-A-G	c.997T>C	p.F333L	Missense	8/24	-	1
3-138452258-G-A	c.995C>T	p.P332L	Missense	8/24	-	1
3-138452258-G-T	c.995C>A	p.P332H	Missense	8/24	-	1
3-138452259-G-A	c.994C>T	p.P332S	Missense	8/24	-	1
3-138452260-G-A	c.993C>T	p.N331=	Synonymous	8/24	-	2
3-138452272-CC-AA	c.980_981delinsTT	p.W327F	Missense	8/24	-	2
3-138452272-C-T	c.981G>A	p.W327*	Nonsense	8/24	-	1
3-138452273-C-A	c.980G>T	p.W327L	Missense	8/24	-	2
3-138452277-C-A	c.976G>T	p.V326F	Missense	8/24	-	1
3-138452277-C-T	c.976G>A	p.V326I	Missense	8/24	-	1
3-138452279-T-A	c.974A>T	p.H325L	Missense	8/24	-	1
3-138453445-G-A	c.972+31C>T	-	IntronicSNV	-	7/23	1
3-138453475-C-T	c.972+1G>A	-	IntronicSNV	-	7/23	1
3-138453477-G-T	c.971C>A	p.S324Y	Missense	7/24	-	1
3-138453485-T-G	c.963A>C	p.R321=	Synonymous	7/24	-	1
3-138453486-C-A	c.962G>T	p.R321L	Missense	7/24	-	1
3-138453486-C-T	c.962G>A	p.R321Q	Missense	7/24	-	17
3-138453487-G-A	c.961C>T	p.R321*	Nonsense	7/24	-	1
3-138453494-C-A	c.954G>T	p.K318N	Missense	7/24	-	2
3-138453494-C-G	c.954G>C	p.K318N	Missense	7/24	-	2
3-138453496-T-C	c.952A>G	p.K318E	Missense	7/24	-	1
3-138453498-G-A	c.950C>T	p.P317L	Missense	7/24	-	1
3-138453498-G-C	c.950C>G	p.P317R	Missense	7/24	-	1
3-138453498-G-T	c.950C>A	p.P317Q	Missense	7/24	-	1
3-138453499-G-A	c.949C>T	p.P317S	Missense	7/24	-	1
3-138453499-G-T	c.949C>A	p.P317T	Missense	7/24	-	1
3-138453507-G-A	c.941C>T	p.P314L	Missense	7/24	-	1
3-138453508-G-A	c.940C>T	p.P314S	Missense	7/24	-	2
3-138453508-G-C	c.940C>G	p.P314A	Missense	7/24	-	1
3-138453511-G-A	c.937C>T	p.L313F	Missense	7/24	-	8
3-138453511-G-C	c.937C>G	p.L313V	Missense	7/24	-	1
3-138453514-G-A	c.934C>T	p.P312S	Missense	7/24	-	2
3-138453517-G-A	c.931C>T	p.L311F	Missense	7/24	-	1
3-138453522-GA-AG	c.925_926delinsCT	p.S309L	Missense	7/24	-	1
3-138453524-TG-AC	c.923_924delinsGT	p.S308C	Missense	7/24	-	1
3-138453525-G-A	c.923C>T	p.S308L	Missense	7/24	-	2
3-138453530-TCG-ACA	c.916_918delinsTGT	p.R306C	Missense	7/24	-	1
3-138453531-C-T	c.917G>A	p.R306Q	Missense	7/24	-	3
3-138453532-G-A	c.916C>T	p.R306*	Nonsense	7/24	-	1
3-138453535-T-G	c.913A>C	p.N305H	Missense	7/24	-	1
3-138453537-A-C	c.911T>G	p.I304R	Missense	7/24	-	9
3-138453540-G-A	c.908C>T	p.A303V	Missense	7/24	-	1
3-138453541-C-A	c.907G>T	p.A303S	Missense	7/24	-	1
3-138453543-G-A	c.905C>T	p.A302V	Missense	7/24	-	1
3-138453544-C-T	c.904G>A	p.A302T	Missense	7/24	-	1
3-138453545-C-T	c.903G>A	p.E301=	Synonymous	7/24	-	1
3-138453546-T-A	c.902A>T	p.E301V	Missense	7/24	-	2
3-138453548-T-A	c.900A>T	p.I300=	Synonymous	7/24	-	1
3-138453548-T-G	c.900A>C	p.I300=	Synonymous	7/24	-	2
3-138453549-A-G	c.899T>C	p.I300T	Missense	7/24	-	1
3-138453552-G-A	c.896C>T	p.A299V	Missense	7/24	-	2
3-138453553-C-T	c.895G>A	p.A299T	Missense	7/24	-	1
3-138453557-C-A	c.891G>T	p.M297I	Missense	7/24	-	1
3-138453557-C-G	c.891G>C	p.M297I	Missense	7/24	-	1
3-138453557-C-T	c.891G>A	p.M297I	Missense	7/24	-	1
3-138453564-T-A	c.884A>T	p.Q295L	Missense	7/24	-	1
3-138453558-ATTTCTTGTTCATACAT-A	c.874_889del	p.M292*	Frameshift	7/24	-	1
3-138453567-T-C	c.881A>G	p.E294G	Missense	7/24	-	1
3-138453568-C-G	c.880G>C	p.E294Q	Missense	7/24	-	3
3-138453568-C-T	c.880G>A	p.E294K	Missense	7/24	-	2
3-138453571-A-G	c.877T>C	p.Y293H	Missense	7/24	-	2
3-138453574-T-G	c.874A>C	p.M292L	Missense	7/24	-	1
3-138453576-T-C	c.872A>G	p.K291R	Missense	7/24	-	1
3-138453578-C-A	c.870G>T	p.K290N	Missense	7/24	-	3
3-138453578-C-G	c.870G>C	p.K290N	Missense	7/24	-	3
3-138453578-C-T	c.870G>A	p.K290=	Synonymous	7/24	-	1
3-138453579-T-G	c.869A>C	p.K290T	Missense	7/24	-	1
3-138453580-T-A	c.868A>T	p.K290*	Nonsense	7/24	-	1
3-138453581-G-C	c.867C>G	p.I289M	Missense	7/24	-	4
3-138453588-C-T	c.860G>A	p.C287Y	Missense	7/24	-	1
3-138453591-C-A	c.857G>T	p.C286F	Missense	7/24	-	1
3-138453591-C-T	c.857G>A	p.C286Y	Missense	7/24	-	1
3-138453592-A-G	c.856T>C	p.C286R	Missense	7/24	-	1
3-138453593-T-A	c.855A>T	p.E285D	Missense	7/24	-	1
3-138453593-T-G	c.855A>C	p.E285D	Missense	7/24	-	2
3-138453594-T-C	c.854A>G	p.E285G	Missense	7/24	-	1
3-138453595-C-G	c.853G>C	p.E285Q	Missense	7/24	-	1
3-138453602-T-C	c.846A>G	p.I282M	Missense	7/24	-	1
3-138453609-T-C	c.839A>G	p.H280R	Missense	7/24	-	1
3-138453617-G-A	c.831C>T	p.A277=	Synonymous	7/24	-	1
3-138453618-G-A	c.830C>T	p.A277V	Missense	7/24	-	7
3-138453621-CT-TG	c.826_827delinsCA	p.R276Q	Missense	7/24	-	1
3-138453623-G-A	c.825C>T	p.N275=	Synonymous	7/24	-	1
3-138453623-G-C	c.825C>G	p.N275K	Missense	7/24	-	1
3-138453623-G-T	c.825C>A	p.N275K	Missense	7/24	-	1
3-138453637-T-C	c.811A>G	p.N271D	Missense	7/24	-	1
3-138453639-C-T	c.809G>A	p.R270Q	Missense	7/24	-	2
3-138453640-G-A	c.808C>T	p.R270W	Missense	7/24	-	7
3-138453641-G-A	c.807C>T	p.I269=	Synonymous	7/24	-	2
3-138453641-G-T	c.807C>A	p.I269=	Synonymous	7/24	-	1
3-138453643-T-A	c.805A>T	p.I269F	Missense	7/24	-	1
3-138453794-A-T	c.802-148T>A	-	IntronicSNV	-	6/23	1
3-138456488-AT-A	c.801+61del	-	IntronicDeletion	-	6/23	1
3-138456486-AAT-A	c.801+61_801+62del	-	IntronicDeletion	-	6/23	3
3-138456546-T-A	c.801+3A>T	-	IntronicSNV	-	6/23	1
3-138456557-G-A	c.793C>T	p.Q265*	Nonsense	6/24	-	1
3-138456557-G-T	c.793C>A	p.Q265K	Missense	6/24	-	1
3-138456559-A-C	c.791T>G	p.I264S	Missense	6/24	-	2
3-138456560-T-C	c.790A>G	p.I264V	Missense	6/24	-	1
3-138456563-G-T	c.787C>A	p.L263I	Missense	6/24	-	1
3-138456569-G-A	c.781C>T	p.H261Y	Missense	6/24	-	3
3-138456572-C-A	c.778G>T	p.D260Y	Missense	6/24	-	2
3-138456574-C-A	c.776G>T	p.G259V	Missense	6/24	-	2
3-138456581-C-A	c.769G>T	p.V257F	Missense	6/24	-	1
3-138456581-C-T	c.769G>A	p.V257I	Missense	6/24	-	1
3-138456584-A-C	c.766T>G	p.Y256D	Missense	6/24	-	1
3-138456587-C-G	c.763G>C	p.E255Q	Missense	6/24	-	1
3-138456587-C-T	c.763G>A	p.E255K	Missense	6/24	-	1
3-138456588-T-A	c.762A>T	p.V254=	Synonymous	6/24	-	1
3-138456588-T-C	c.762A>G	p.V254=	Synonymous	6/24	-	2
3-138456588-T-G	c.762A>C	p.V254=	Synonymous	6/24	-	1
3-138456592-C-T	c.758G>A	p.R253K	Missense	6/24	-	1
3-138456596-C-A	c.754G>T	p.G252W	Missense	6/24	-	2
3-138456596-C-G	c.754G>C	p.G252R	Missense	6/24	-	3
3-138456596-C-T	c.754G>A	p.G252R	Missense	6/24	-	3
3-138456598-C-A	c.752G>T	p.S251I	Missense	6/24	-	1
3-138456598-C-T	c.752G>A	p.S251N	Missense	6/24	-	1
3-138456609-C-T	c.741G>A	p.V247=	Synonymous	6/24	-	1
3-138456610-A-C	c.740T>G	p.V247G	Missense	6/24	-	1
3-138456615-A-G	c.735T>C	p.D245=	Synonymous	6/24	-	1
3-138456620-A-G	c.730T>C	p.Y244H	Missense	6/24	-	7
3-138456621-GG-TT	c.728_729delinsAA	p.P243Q	Missense	6/24	-	1
3-138456621-G-T	c.729C>A	p.P243=	Synonymous	6/24	-	1
3-138456623-G-A	c.727C>T	p.P243S	Missense	6/24	-	1
3-138456624-GCT-TCA	c.724_726delinsTGA	p.S242*	Nonsense	6/24	-	1
3-138456627-A-C	c.723T>G	p.V241=	Synonymous	6/24	-	1
3-138456627-A-G	c.723T>C	p.V241=	Synonymous	6/24	-	1
3-138456627-A-T	c.723T>A	p.V241=	Synonymous	6/24	-	1
3-138456634-T-C	c.716A>G	p.D239G	Missense	6/24	-	1
3-138456638-C-T	c.712G>A	p.E238K	Missense	6/24	-	1
3-138456640-T-C	c.710A>G	p.K237R	Missense	6/24	-	1
3-138456643-C-T	c.707G>A	p.G236E	Missense	6/24	-	3
3-138456644-C-A	c.706G>T	p.G236W	Missense	6/24	-	1
3-138456647-G-C	c.703C>G	p.H235D	Missense	6/24	-	4
3-138456650-T-C	c.700A>G	p.I234V	Missense	6/24	-	1
3-138456658-C-T	c.692G>A	p.R231H	Missense	6/24	-	4
3-138456659-G-C	c.691C>G	p.R231G	Missense	6/24	-	1
3-138456661-T-C	c.689A>G	p.K230R	Missense	6/24	-	1
3-138456659-GT-G	c.690del	p.K230Nfs*3	Frameshift	6/24	-	1
3-138456664-T-C	c.686A>G	p.Q229R	Missense	6/24	-	1
3-138456668-T-G	c.682A>C	p.I228L	Missense	6/24	-	1
3-138456671-C-T	c.679G>A	p.A227T	Missense	6/24	-	1
3-138456674-A-C	c.676T>G	p.L226V	Missense	6/24	-	1
3-138456675-T-A	c.675A>T	p.E225D	Missense	6/24	-	2
3-138456675-T-C	c.675A>G	p.E225=	Synonymous	6/24	-	1
3-138456675-T-G	c.675A>C	p.E225D	Missense	6/24	-	2
3-138456677-C-G	c.673G>C	p.E225Q	Missense	6/24	-	1
3-138456677-C-T	c.673G>A	p.E225K	Missense	6/24	-	2
3-138456687-G-T	c.663C>A	p.I221=	Synonymous	6/24	-	1
3-138456688-GA-G	c.662del	p.I221Tfs*3	Frameshift	6/24	-	1
3-138456690-A-C	c.660T>G	p.P220=	Synonymous	6/24	-	1
3-138456690-A-G	c.660T>C	p.P220=	Synonymous	6/24	-	1
3-138456690-A-T	c.660T>A	p.P220=	Synonymous	6/24	-	1
3-138456692-G-C	c.658C>G	p.P220A	Missense	6/24	-	1
3-138456692-G-T	c.658C>A	p.P220T	Missense	6/24	-	1
3-138456696-C-A	c.654G>T	p.M218I	Missense	6/24	-	1
3-138456698-T-A	c.652A>T	p.M218L	Missense	6/24	-	1
3-138456698-T-C	c.652A>G	p.M218V	Missense	6/24	-	1
3-138456698-T-G	c.652A>C	p.M218L	Missense	6/24	-	1
3-138456701-T-A	c.649A>T	p.N217Y	Missense	6/24	-	1
3-138456704-G-T	c.646C>A	p.P216T	Missense	6/24	-	1
3-138456706-G-C	c.644C>G	p.S215C	Missense	6/24	-	2
3-138456717-G-C	c.633C>G	p.S211R	Missense	6/24	-	1
3-138456717-G-T	c.633C>A	p.S211R	Missense	6/24	-	1
3-138456719-T-G	c.631A>C	p.S211R	Missense	6/24	-	1
3-138456718-C-A	c.632G>T	p.S211I	Missense	6/24	-	5
3-138456719-T-C	c.631A>G	p.S211G	Missense	6/24	-	8
3-138456725-C-G	c.625G>C	p.V209L	Missense	6/24	-	1
3-138456725-C-T	c.625G>A	p.V209M	Missense	6/24	-	1
3-138456726-G-A	c.624C>T	p.D208=	Synonymous	6/24	-	2
3-138456735-G-A	c.622-7C>T	-	IntronicSNV	-	5/23	1
3-138456735-G-C	c.622-7C>G	-	IntronicSNV	-	5/23	1
3-138459502-CT-C	c.621+1897del	-	IntronicDeletion	-	5/23	1
3-138460203-G-A	c.621+1197C>T	-	IntronicSNV	-	5/23	1
3-138460203-G-C	c.621+1197C>G	-	IntronicSNV	-	5/23	1
3-138460203-G-T	c.621+1197C>A	-	IntronicSNV	-	5/23	1
3-138460496-C-T	c.621+904G>A	-	IntronicSNV	-	5/23	1
3-138461393-A-G	c.621+7T>C	-	IntronicSNV	-	5/23	1
3-138461407-T-C	c.614A>G	p.N205S	Missense	5/24	-	2
3-138461414-A-T	c.607T>A	p.F203I	Missense	5/24	-	1
3-138461423-C-T	c.598G>A	p.A200T	Missense	5/24	-	1
3-138461426-C-T	c.595G>A	p.V199I	Missense	5/24	-	1
3-138461427-G-T	c.594C>A	p.I198=	Synonymous	5/24	-	2
3-138461430-G-A	c.591C>T	p.L197=	Synonymous	5/24	-	1
3-138461430-G-C	c.591C>G	p.L197=	Synonymous	5/24	-	1
3-138461430-G-T	c.591C>A	p.L197=	Synonymous	5/24	-	1
3-138461437-C-A	c.584G>T	p.G195V	Missense	5/24	-	1
3-138461440-C-A	c.581G>T	p.G194V	Missense	5/24	-	2
3-138461440-C-T	c.581G>A	p.G194E	Missense	5/24	-	2
3-138461441-C-G	c.580G>C	p.G194R	Missense	5/24	-	1
3-138461441-C-T	c.580G>A	p.G194R	Missense	5/24	-	1
3-138461442-A-G	c.579T>C	p.Y193=	Synonymous	5/24	-	1
3-138461444-A-G	c.577T>C	p.Y193H	Missense	5/24	-	1
3-138461446-A-C	c.575T>G	p.L192R	Missense	5/24	-	1
3-138461446-A-G	c.575T>C	p.L192P	Missense	5/24	-	1
3-138461447-G-C	c.574C>G	p.L192V	Missense	5/24	-	1
3-138461452-TC-CT	c.568_569delinsAG	p.D190S	Missense	5/24	-	1
3-138461453-C-A	c.568G>T	p.D190Y	Missense	5/24	-	2
3-138461453-C-T	c.568G>A	p.D190N	Missense	5/24	-	1
3-138461456-C-G	c.565G>C	p.E189Q	Missense	5/24	-	3
3-138461459-A-C	c.562T>G	p.L188V	Missense	5/24	-	4
3-138461459-A-G	c.562T>C	p.L188=	Synonymous	5/24	-	4
3-138461463-T-A	c.558A>T	p.E186D	Missense	5/24	-	1
3-138461465-C-G	c.556G>C	p.E186Q	Missense	5/24	-	1
3-138461465-C-T	c.556G>A	p.E186K	Missense	5/24	-	2
3-138461467-GG-TT	c.553_554delinsAA	p.P185N	Missense	5/24	-	1
3-138461468-G-T	c.553C>A	p.P185T	Missense	5/24	-	2
3-138461469-G-A	c.552C>T	p.I184=	Synonymous	5/24	-	2
3-138461473-G-A	c.548C>T	p.S183F	Missense	5/24	-	3
3-138461472-GGAT-G	c.546_548del	p.S183del	InFrameDeletion	5/24	-	1
3-138461476-G-A	c.545C>T	p.P182L	Missense	5/24	-	1
3-138461477-G-A	c.544C>T	p.P182S	Missense	5/24	-	1
3-138461480-C-T	c.541G>A	p.E181K	Missense	5/24	-	1
3-138461482-T-C	c.539A>G	p.H180R	Missense	5/24	-	1
3-138461485-T-A	c.536A>T	p.E179V	Missense	5/24	-	1
3-138461485-T-C	c.536A>G	p.E179G	Missense	5/24	-	1
3-138461486-C-G	c.535G>C	p.E179Q	Missense	5/24	-	1
3-138461486-C-T	c.535G>A	p.E179K	Missense	5/24	-	1
3-138461488-G-A	c.533C>T	p.P178L	Missense	5/24	-	3
3-138461489-G-T	c.532C>A	p.P178T	Missense	5/24	-	1
3-138461491-G-A	c.530C>T	p.P177L	Missense	5/24	-	1
3-138461492-G-T	c.529C>A	p.P177T	Missense	5/24	-	1
3-138461493-A-T	c.528T>A	p.Y176*	Nonsense	5/24	-	1
3-138461502-T-C	c.519A>G	p.K173=	Synonymous	5/24	-	1
3-138461507-GC-G	c.513del	p.W171Cfs*2	Frameshift	5/24	-	1
3-138461509-C-A	c.512G>T	p.W171L	Missense	5/24	-	1
3-138461512-T-G	c.509A>C	p.D170A	Missense	5/24	-	1
3-138461513-C-T	c.508G>A	p.D170N	Missense	5/24	-	1
3-138461514-C-A	c.507G>T	p.M169I	Missense	5/24	-	1
3-138461514-C-G	c.507G>C	p.M169I	Missense	5/24	-	1
3-138461514-C-T	c.507G>A	p.M169I	Missense	5/24	-	1
3-138461527-C-T	c.494G>A	p.G165E	Missense	5/24	-	1
3-138461531-C-A	c.490G>T	p.V164L	Missense	5/24	-	1
3-138461531-C-G	c.490G>C	p.V164L	Missense	5/24	-	1
3-138461531-C-T	c.490G>A	p.V164M	Missense	5/24	-	2
3-138461533-A-G	c.488T>C	p.L163P	Missense	5/24	-	1
3-138461536-G-A	c.485C>T	p.S162L	Missense	5/24	-	1
3-138461541-G-A	c.480C>T	p.I160=	Synonymous	5/24	-	3
3-138461545-T-C	c.476A>G	p.K159R	Missense	5/24	-	2
3-138461549-C-T	c.472G>A	p.E158K	Missense	5/24	-	4
3-138461553-G-A	c.468C>T	p.S156=	Synonymous	5/24	-	4
3-138461560-T-G	c.461A>C	p.K154T	Missense	5/24	-	2
3-138461562-GCG-TCA	c.457_459delinsTGA	p.R153*	Nonsense	5/24	-	1
3-138461563-CG-AT	c.457_458delinsAT	p.R153I	Missense	5/24	-	1
3-138461563-C-T	c.458G>A	p.R153H	Missense	5/24	-	2
3-138461564-G-A	c.457C>T	p.R153C	Missense	5/24	-	5
3-138461565-C-A	c.456G>T	p.M152I	Missense	5/24	-	1
3-138461565-C-G	c.456G>C	p.M152I	Missense	5/24	-	1
3-138461565-C-T	c.456G>A	p.M152I	Missense	5/24	-	2
3-138461575-C-T	c.446G>A	p.R149Q	Missense	5/24	-	6
3-138461576-G-A	c.445C>T	p.R149*	Nonsense	5/24	-	2
3-138461584-T-C	c.437A>G	p.N146S	Missense	5/24	-	2
3-138461585-T-C	c.436A>G	p.N146D	Missense	5/24	-	1
3-138461598-C-A	c.423G>T	p.K141N	Missense	5/24	-	1
3-138461598-C-G	c.423G>C	p.K141N	Missense	5/24	-	1
3-138461599-T-C	c.422A>G	p.K141R	Missense	5/24	-	1
3-138461602-A-G	c.419T>C	p.L140S	Missense	5/24	-	4
3-138461605-G-A	c.416C>T	p.S139F	Missense	5/24	-	1
3-138461605-GA-G	c.415del	p.S139Pfs*2	Frameshift	5/24	-	1
3-138461609-C-G	c.412G>C	p.D138H	Missense	5/24	-	1
3-138461609-C-T	c.412G>A	p.D138N	Missense	5/24	-	1
3-138461610-AA-TT	c.410_411inv	p.F137*	Nonsense	5/24	-	1
3-138461611-A-G	c.410T>C	p.F137S	Missense	5/24	-	1
3-138461618-G-T	c.403C>A	p.H135N	Missense	5/24	-	3
3-138461622-A-C	c.399T>G	p.G133=	Synonymous	5/24	-	1
3-138461622-A-G	c.399T>C	p.G133=	Synonymous	5/24	-	1
3-138461622-A-T	c.399T>A	p.G133=	Synonymous	5/24	-	1
3-138474598-T-G	c.395A>C	p.K132T	Missense	4/24	-	1
3-138474603-T-C	c.390A>G	p.I130M	Missense	4/24	-	1
3-138474608-G-A	c.385C>T	p.L129F	Missense	4/24	-	6
3-138474613-C-T	c.380G>A	p.G127E	Missense	4/24	-	1
3-138474615-A-G	c.378T>C	p.I126=	Synonymous	4/24	-	2
3-138474615-A-T	c.378T>A	p.I126=	Synonymous	4/24	-	1
3-138474618-T-A	c.375A>T	p.K125N	Missense	4/24	-	1
3-138474618-T-G	c.375A>C	p.K125N	Missense	4/24	-	1
3-138474620-T-G	c.373A>C	p.K125Q	Missense	4/24	-	1
3-138474622-G-A	c.371C>T	p.S124L	Missense	4/24	-	1
3-138474622-G-C	c.371C>G	p.S124*	Nonsense	4/24	-	3
3-138474622-G-T	c.371C>A	p.S124*	Nonsense	4/24	-	2
3-138474626-C-T	c.367G>A	p.D123N	Missense	4/24	-	1
3-138474623-AGTCTAATTTTTCCCCTGG-A	c.352_369del	p.P118_D123del	InFrameDeletion	4/24	-	1
3-138474627-T-C	c.366A>G	p.L122=	Synonymous	4/24	-	1
3-138474629-A-G	c.364T>C	p.L122=	Synonymous	4/24	-	1
3-138474630-T-A	c.363A>T	p.K121N	Missense	4/24	-	1
3-138474630-T-G	c.363A>C	p.K121N	Missense	4/24	-	1
3-138474631-T-G	c.362A>C	p.K121T	Missense	4/24	-	1
3-138474635-C-T	c.358G>A	p.E120K	Missense	4/24	-	1
3-138474636-C-T	c.357G>A	p.G119=	Synonymous	4/24	-	3
3-138474637-C-G	c.356G>C	p.G119A	Missense	4/24	-	1
3-138474639-T-G	c.354A>C	p.P118=	Synonymous	4/24	-	1
3-138474640-G-A	c.353C>T	p.P118L	Missense	4/24	-	1
3-138474640-GG-TT	c.352_353delinsAA	p.P118K	Missense	4/24	-	1
3-138474641-G-A	c.352C>T	p.P118S	Missense	4/24	-	1
3-138474642-GGTCACAACTTCTTGT-G	c.337_351del	p.T113_D117del	InFrameDeletion	4/24	-	1
3-138474643-T-G	c.350A>C	p.D117A	Missense	4/24	-	1
3-138474648-A-G	c.345T>C	p.S115=	Synonymous	4/24	-	1
3-138474649-C-G	c.344G>C	p.S115T	Missense	4/24	-	1
3-138474649-C-T	c.344G>A	p.S115N	Missense	4/24	-	2
3-138474652-C-G	c.341G>C	p.R114T	Missense	4/24	-	2
3-138474652-CT-TG	c.340_341delinsCA	p.R114Q	Missense	4/24	-	1
3-138474654-T-A	c.339A>T	p.T113=	Synonymous	4/24	-	1
3-138474655-G-A	c.338C>T	p.T113I	Missense	4/24	-	2
3-138474656-T-C	c.337A>G	p.T113A	Missense	4/24	-	1
3-138474659-C-A	c.334G>T	p.V112L	Missense	4/24	-	1
3-138474659-C-G	c.334G>C	p.V112L	Missense	4/24	-	1
3-138474662-A-G	c.331T>C	p.L111=	Synonymous	4/24	-	1
3-138474663-T-A	c.330A>T	p.K110N	Missense	4/24	-	2
3-138474663-T-G	c.330A>C	p.K110N	Missense	4/24	-	2
3-138474669-AAC-CAT	c.322_324delinsATG	p.V108M	Missense	4/24	-	1
3-138474677-G-A	c.316C>T	p.L106F	Missense	4/24	-	1
3-138474678-A-C	c.315T>G	p.F105L	Missense	4/24	-	1
3-138474678-A-T	c.315T>A	p.F105L	Missense	4/24	-	1
3-138474680-A-G	c.313T>C	p.F105L	Missense	4/24	-	1
3-138474683-G-A	c.310C>T	p.P104S	Missense	4/24	-	1
3-138474685-C-T	c.308G>A	p.R103K	Missense	4/24	-	10
3-138474689-C-T	c.304G>A	p.V102I	Missense	4/24	-	1
3-138474691-T-A	c.302A>T	p.D101V	Missense	4/24	-	1
3-138474694-C-A	c.299G>T	p.C100F	Missense	4/24	-	1
3-138474696-G-A	c.297C>T	p.L99=	Synonymous	4/24	-	1
3-138474697-A-C	c.296T>G	p.L99R	Missense	4/24	-	1
3-138474700-C-T	c.293G>A	p.R98K	Missense	4/24	-	1
3-138474703-C-A	c.290G>T	p.R97L	Missense	4/24	-	1
3-138474703-CG-TT	c.289_290delinsAA	p.R97K	Missense	4/24	-	1
3-138474703-C-T	c.290G>A	p.R97Q	Missense	4/24	-	3
3-138474704-G-A	c.289C>T	p.R97*	Nonsense	4/24	-	1
3-138474704-G-C	c.289C>G	p.R97G	Missense	4/24	-	3
3-138474707-T-A	c.286A>T	p.T96S	Missense	4/24	-	1
3-138474711-A-G	c.282T>C	p.D94=	Synonymous	4/24	-	1
3-138474713-C-G	c.280G>C	p.D94H	Missense	4/24	-	2
3-138474716-C-A	c.277G>T	p.E93*	Nonsense	4/24	-	1
3-138474716-C-G	c.277G>C	p.E93Q	Missense	4/24	-	2
3-138474716-C-T	c.277G>A	p.E93K	Missense	4/24	-	1
3-138474717-A-C	c.276T>G	p.L92=	Synonymous	4/24	-	1
3-138474716-C-CA	c.276dup	p.E93*	Nonsense	4/24	-	1
3-138474720-C-T	c.273G>A	p.E91=	Synonymous	4/24	-	1
3-138474722-C-A	c.271G>T	p.E91*	Nonsense	4/24	-	1
3-138474723-C-A	c.270G>T	p.E90D	Missense	4/24	-	1
3-138474725-C-T	c.268G>A	p.E90K	Missense	4/24	-	1
3-138474728-A-G	c.265T>C	p.Y89H	Missense	4/24	-	1
3-138474732-A-C	c.261T>G	p.A87=	Synonymous	4/24	-	1
3-138474732-A-G	c.261T>C	p.A87=	Synonymous	4/24	-	1
3-138474732-AGC-CTT	c.259_261delinsAAG	p.A87K	Missense	4/24	-	1
3-138474732-AG-CT	c.260_261inv	p.A87E	Missense	4/24	-	1
3-138474732-A-T	c.261T>A	p.A87=	Synonymous	4/24	-	1
3-138474733-G-A	c.260C>T	p.A87V	Missense	4/24	-	1
3-138474733-GC-CA	c.259_260delinsTG	p.A87C	Missense	4/24	-	3
3-138474733-GC-TG	c.259_260delinsCA	p.A87H	Missense	4/24	-	1
3-138474733-G-T	c.260C>A	p.A87D	Missense	4/24	-	3
3-138474737-T-C	c.256A>G	p.T86A	Missense	4/24	-	1
3-138474739-T-C	c.254A>G	p.Q85R	Missense	4/24	-	2
3-138474750-T-A	c.243A>T	p.A81=	Synonymous	4/24	-	1
3-138474750-T-C	c.243A>G	p.A81=	Synonymous	4/24	-	2
3-138474750-T-G	c.243A>C	p.A81=	Synonymous	4/24	-	1
3-138474750-TGC-CCA	c.241_243delinsTGG	p.A81W	Missense	4/24	-	1
3-138474751-G-A	c.242C>T	p.A81V	Missense	4/24	-	2
3-138474754-A-C	c.239T>G	p.F80C	Missense	4/24	-	1
3-138474757-A-G	c.236T>C	p.M79T	Missense	4/24	-	2
3-138474760-T-C	c.233A>G	p.Y78C	Missense	4/24	-	1
3-138474764-AGTCAATATCCATAAGGAGGTT-A	c.208_228del	p.N70_D76del	InFrameDeletion	4/24	-	1
3-138474767-C-G	c.226G>C	p.D76H	Missense	4/24	-	1
3-138474769-A-G	c.224T>C	p.I75T	Missense	4/24	-	1
3-138474773-C-G	c.220G>C	p.D74H	Missense	4/24	-	1
3-138474773-C-T	c.220G>A	p.D74N	Missense	4/24	-	3
3-138474778-A-C	c.215T>G	p.L72R	Missense	4/24	-	3
3-138474778-A-T	c.215T>A	p.L72H	Missense	4/24	-	1
3-138474780-G-A	c.213C>T	p.L71=	Synonymous	4/24	-	1
3-138474783-G-T	c.210C>A	p.N70K	Missense	4/24	-	1
3-138474786-G-A	c.207C>T	p.F69=	Synonymous	4/24	-	4
3-138474789-C-A	c.204G>T	p.M68I	Missense	4/24	-	5
3-138474789-C-G	c.204G>C	p.M68I	Missense	4/24	-	4
3-138474789-C-T	c.204G>A	p.M68I	Missense	4/24	-	5
3-138474791-T-C	c.202A>G	p.M68V	Missense	4/24	-	1
3-138474793-G-A	c.200C>T	p.P67L	Missense	4/24	-	1
3-138474795-G-A	c.198C>T	p.Y66=	Synonymous	4/24	-	1
3-138474795-G-C	c.198C>G	p.Y66*	Nonsense	4/24	-	1
3-138474796-T-C	c.197A>G	p.Y66C	Missense	4/24	-	1
3-138474797-A-G	c.196T>C	p.Y66H	Missense	4/24	-	1
3-138474798-A-G	c.195T>C	p.N65=	Synonymous	4/24	-	1
3-138474799-T-C	c.194A>G	p.N65S	Missense	4/24	-	3
3-138474802-T-A	c.191A>T	p.H64L	Missense	4/24	-	1
3-138474803-G-A	c.190C>T	p.H64Y	Missense	4/24	-	1
3-138474806-C-G	c.187G>C	p.V63L	Missense	4/24	-	1
3-138474811-T-A	c.182A>T	p.K61M	Missense	4/24	-	1
3-138474811-T-C	c.182A>G	p.K61R	Missense	4/24	-	1
3-138474811-T-G	c.182A>C	p.K61T	Missense	4/24	-	6
3-138474813-C-G	c.180G>C	p.W60C	Missense	4/24	-	2
3-138474815-A-G	c.178T>C	p.W60R	Missense	4/24	-	1
3-138474815-A-T	c.178T>A	p.W60R	Missense	4/24	-	1
3-138474986-T-A	c.172-165A>T	-	IntronicSNV	-	3/23	2
3-138474986-T-C	c.172-165A>G	-	IntronicSNV	-	3/23	2
3-138478020-T-A	c.166A>T	p.K56*	Nonsense	3/24	-	2
3-138478025-T-C	c.161A>G	p.Y54C	Missense	3/24	-	1
3-138478026-A-T	c.160T>A	p.Y54N	Missense	3/24	-	1
3-138478027-A-C	c.159T>G	p.S53=	Synonymous	3/24	-	1
3-138478027-A-G	c.159T>C	p.S53=	Synonymous	3/24	-	1
3-138478027-A-T	c.159T>A	p.S53=	Synonymous	3/24	-	3
3-138478028-G-A	c.158C>T	p.S53F	Missense	3/24	-	2
3-138478030-A-T	c.156T>A	p.I52=	Synonymous	3/24	-	2
3-138478028-GA-G	c.157del	p.S53Lfs*31	Frameshift	3/24	-	1
3-138478033-G-A	c.153C>T	p.T51=	Synonymous	3/24	-	1
3-138478033-G-C	c.153C>G	p.T51=	Synonymous	3/24	-	1
3-138478033-G-T	c.153C>A	p.T51=	Synonymous	3/24	-	1
3-138478037-G-A	c.149C>T	p.A50V	Missense	3/24	-	1
3-138478038-C-A	c.148G>T	p.A50S	Missense	3/24	-	1
3-138478038-C-G	c.148G>C	p.A50P	Missense	3/24	-	5
3-138478038-C-T	c.148G>A	p.A50T	Missense	3/24	-	1
3-138478043-C-A	c.143G>T	p.R48L	Missense	3/24	-	2
3-138478043-C-T	c.143G>A	p.R48Q	Missense	3/24	-	5
3-138478044-G-A	c.142C>T	p.R48W	Missense	3/24	-	7
3-138478046-G-A	c.140C>T	p.P47L	Missense	3/24	-	2
3-138478049-A-T	c.137T>A	p.V46E	Missense	3/24	-	2
3-138478054-C-G	c.132G>C	p.L44F	Missense	3/24	-	1
3-138478054-C-T	c.132G>A	p.L44=	Synonymous	3/24	-	1
3-138478056-A-G	c.130T>C	p.L44=	Synonymous	3/24	-	1
3-138478057-C-A	c.129G>T	p.Q43H	Missense	3/24	-	1
3-138478057-C-G	c.129G>C	p.Q43H	Missense	3/24	-	1
3-138478057-C-T	c.129G>A	p.Q43=	Synonymous	3/24	-	1
3-138478059-G-C	c.127C>G	p.Q43E	Missense	3/24	-	2
3-138478061-A-G	c.125T>C	p.I42T	Missense	3/24	-	1
3-138478065-A-G	c.121T>C	p.Y41H	Missense	3/24	-	1
3-138478070-C-T	c.116G>A	p.G39E	Missense	3/24	-	1
3-138478071-C-T	c.115G>A	p.G39R	Missense	3/24	-	1
3-138478075-G-A	c.111C>T	p.P37=	Synonymous	3/24	-	1
3-138478076-G-A	c.110C>T	p.P37L	Missense	3/24	-	1
3-138478078-C-A	c.108G>T	p.L36F	Missense	3/24	-	2
3-138478078-C-G	c.108G>C	p.L36F	Missense	3/24	-	1
3-138478083-G-C	c.103C>G	p.L35V	Missense	3/24	-	1
3-138478084-G-A	c.102C>T	p.F34=	Synonymous	3/24	-	2
3-138478091-A-C	c.95T>G	p.V32G	Missense	3/24	-	1
3-138478092-C-A	c.94G>T	p.V32L	Missense	3/24	-	1
3-138478092-C-T	c.94G>A	p.V32M	Missense	3/24	-	1
3-138478094-G-A	c.92C>T	p.P31L	Missense	3/24	-	1
3-138478099-G-A	c.87C>T	p.S29=	Synonymous	3/24	-	1
3-138478100-G-A	c.86C>T	p.S29F	Missense	3/24	-	2
3-138478103-C-T	c.83G>A	p.G28D	Missense	3/24	-	1
3-138478104-C-T	c.82G>A	p.G28S	Missense	3/24	-	3
3-138478110-A-C	c.76T>G	p.S26A	Missense	3/24	-	1
3-138478111-T-A	c.75A>T	p.A25=	Synonymous	3/24	-	1
3-138478111-T-C	c.75A>G	p.A25=	Synonymous	3/24	-	1
3-138478111-T-G	c.75A>C	p.A25=	Synonymous	3/24	-	1
3-138478111-TGC-ACA	c.73_75delinsTGT	p.A25C	Missense	3/24	-	1
3-138478111-TG-GT	c.74_75delinsAC	p.A25D	Missense	3/24	-	2
3-138478113-C-A	c.73G>T	p.A25S	Missense	3/24	-	2
3-138478117-TCTG-T	c.67_69del	p.Q23del	InFrameDeletion	3/24	-	1
3-138478120-TG-AA	c.65_66delinsTT	p.S22F	Missense	3/24	-	1
3-138478122-A-G	c.64T>C	p.S22P	Missense	3/24	-	1
3-138478125-C-G	c.61G>C	p.D21H	Missense	3/24	-	5
3-138478125-C-T	c.61G>A	p.D21N	Missense	3/24	-	2
3-138478129-C-A	c.57G>T	p.A19=	Synonymous	3/24	-	3
3-138478129-C-G	c.57G>C	p.A19=	Synonymous	3/24	-	4
3-138478129-CGC-AAA	c.55_57delinsTTT	p.A19F	Missense	3/24	-	2
3-138478129-CGC-ACA	c.55_57delinsTGT	p.A19C	Missense	3/24	-	1
3-138478129-CGC-ATA	c.55_57delinsTAT	p.A19Y	Missense	3/24	-	1
3-138478129-CGC-ATG	c.55_57delinsCAT	p.A19H	Missense	3/24	-	1
3-138478129-CGC-GTT	c.55_57delinsAAC	p.A19N	Missense	3/24	-	1
3-138478129-CG-GT	c.56_57delinsAC	p.A19D	Missense	3/24	-	2
3-138478129-C-T	c.57G>A	p.A19=	Synonymous	3/24	-	3
3-138478130-G-A	c.56C>T	p.A19V	Missense	3/24	-	7
3-138478130-G-C	c.56C>G	p.A19G	Missense	3/24	-	2
3-138478130-GC-AG	c.55_56delinsCT	p.A19L	Missense	3/24	-	1
3-138478130-GC-AT	c.55_56delinsAT	p.A19M	Missense	3/24	-	1
3-138478130-GC-CA	c.55_56delinsTG	p.A19W	Missense	3/24	-	3
3-138478130-GC-TG	c.55_56delinsCA	p.A19Q	Missense	3/24	-	1
3-138478130-GC-TT	c.55_56delinsAA	p.A19K	Missense	3/24	-	6
3-138478130-G-T	c.56C>A	p.A19E	Missense	3/24	-	4
3-138478131-C-A	c.55G>T	p.A19S	Missense	3/24	-	1
3-138478131-C-G	c.55G>C	p.A19P	Missense	3/24	-	4
3-138478131-C-T	c.55G>A	p.A19T	Missense	3/24	-	1
3-138478132-CC-TA	c.53_54delinsTA	p.W18L	Missense	3/24	-	1
3-138478132-C-T	c.54G>A	p.W18*	Nonsense	3/24	-	2
3-138478133-C-A	c.53G>T	p.W18L	Missense	3/24	-	4
3-138478133-C-T	c.53G>A	p.W18*	Nonsense	3/24	-	2
3-138478135-G-A	c.51C>T	p.I17=	Synonymous	3/24	-	1
3-138478135-G-T	c.51C>A	p.I17=	Synonymous	3/24	-	1
3-138478136-A-C	c.50T>G	p.I17S	Missense	3/24	-	1
3-138478136-A-G	c.50T>C	p.I17T	Missense	3/24	-	1
3-138478137-T-A	c.49A>T	p.I17F	Missense	3/24	-	1
3-138478139-TC-AA	c.46_47delinsTT	p.D16F	Missense	3/24	-	1
3-138478142-A-G	c.44T>C	p.L15P	Missense	3/24	-	1
3-138478143-G-T	c.43C>A	p.L15I	Missense	3/24	-	1
3-138478145-A-T	c.41T>A	p.I14N	Missense	3/24	-	1
3-138478146-T-G	c.40A>C	p.I14L	Missense	3/24	-	1
3-138478147-G-A	c.39C>T	p.D13=	Synonymous	3/24	-	1
3-138478148-T-C	c.38A>G	p.D13G	Missense	3/24	-	1
3-138478149-C-A	c.37G>T	p.D13Y	Missense	3/24	-	2
3-138478150-T-A	c.36A>T	p.A12=	Synonymous	3/24	-	4
3-138478150-T-C	c.36A>G	p.A12=	Synonymous	3/24	-	4
3-138478150-T-G	c.36A>C	p.A12=	Synonymous	3/24	-	4
3-138478150-TGC-AAA	c.34_36delinsTTT	p.A12F	Missense	3/24	-	1
3-138478150-TGC-ACA	c.34_36delinsTGT	p.A12C	Missense	3/24	-	1
3-138478150-TGC-ATA	c.34_36delinsTAT	p.A12Y	Missense	3/24	-	1
3-138478150-TGC-ATG	c.34_36delinsCAT	p.A12H	Missense	3/24	-	2
3-138478150-TGC-CAT	c.34_36delinsATG	p.A12M	Missense	3/24	-	1
3-138478150-TGC-CCA	c.34_36delinsTGG	p.A12W	Missense	3/24	-	2
3-138478150-TGC-GTT	c.34_36delinsAAC	p.A12N	Missense	3/24	-	2
3-138478150-TG-GT	c.35_36delinsAC	p.A12D	Missense	3/24	-	1
3-138478151-G-A	c.35C>T	p.A12V	Missense	3/24	-	1
3-138478151-G-C	c.35C>G	p.A12G	Missense	3/24	-	1
3-138478151-GC-AG	c.34_35delinsCT	p.A12L	Missense	3/24	-	1
3-138478151-GC-TA	c.34_35delinsTA	p.A12*	Nonsense	3/24	-	3
3-138478151-GC-TG	c.34_35delinsCA	p.A12Q	Missense	3/24	-	4
3-138478151-GC-TT	c.34_35delinsAA	p.A12K	Missense	3/24	-	1
3-138478151-G-T	c.35C>A	p.A12E	Missense	3/24	-	1
3-138478152-C-G	c.34G>C	p.A12P	Missense	3/24	-	2
3-138478152-C-T	c.34G>A	p.A12T	Missense	3/24	-	2
3-138478153-C-A	c.33G>T	p.M11I	Missense	3/24	-	1
3-138478156-A-C	c.30T>G	p.A10=	Synonymous	3/24	-	3
3-138478156-A-G	c.30T>C	p.A10=	Synonymous	3/24	-	3
3-138478156-AGC-CAT	c.28_30delinsATG	p.A10M	Missense	3/24	-	3
3-138478156-AGC-CCA	c.28_30delinsTGG	p.A10W	Missense	3/24	-	1
3-138478156-AG-CT	c.29_30inv	p.A10E	Missense	3/24	-	2
3-138478156-AGC-TTA	c.28_30delinsTAA	p.A10*	Nonsense	3/24	-	1
3-138478156-AGC-TTG	c.28_30delinsCAA	p.A10Q	Missense	3/24	-	1
3-138478156-A-T	c.30T>A	p.A10=	Synonymous	3/24	-	4
3-138478157-G-A	c.29C>T	p.A10V	Missense	3/24	-	1
3-138478157-G-C	c.29C>G	p.A10G	Missense	3/24	-	2
3-138478157-GC-AA	c.28_29delinsTT	p.A10F	Missense	3/24	-	3
3-138478157-GC-CA	c.28_29delinsTG	p.A10C	Missense	3/24	-	4
3-138478157-GC-CG	c.28_29delinsCG	p.A10R	Missense	3/24	-	1
3-138478157-GC-TA	c.28_29delinsTA	p.A10Y	Missense	3/24	-	2
3-138478157-GC-TG	c.28_29delinsCA	p.A10H	Missense	3/24	-	1
3-138478157-GC-TT	c.28_29delinsAA	p.A10N	Missense	3/24	-	1
3-138478158-C-A	c.28G>T	p.A10S	Missense	3/24	-	5
3-138478158-C-T	c.28G>A	p.A10T	Missense	3/24	-	1
3-138478168-T-A	c.18A>T	p.I6=	Synonymous	3/24	-	1
3-138478168-T-G	c.18A>C	p.I6=	Synonymous	3/24	-	2
3-138478172-A-G	c.14T>C	p.F5S	Missense	3/24	-	1
3-138478175-C-A	c.11G>T	p.S4I	Missense	3/24	-	1
3-138478176-T-A	c.10A>T	p.S4C	Missense	3/24	-	2
3-138478176-T-C	c.10A>G	p.S4G	Missense	3/24	-	2
3-138478177-G-C	c.9C>G	p.F3L	Missense	3/24	-	1
3-138478178-AAGC-A	c.5_7del	p.C2del	InFrameDeletion	3/24	-	1
3-138478180-G-A	c.6C>T	p.C2=	Synonymous	3/24	-	5
3-138478180-G-T	c.6C>A	p.C2*	Nonsense	3/24	-	1
3-138478195-C-T	c.-10G>A	-	5-UTRSNV	3/24	-	1
3-138478224-T-A	c.-16-23A>T	-	IntergenicSNV	-	2/23	1
3-138478224-T-C	c.-16-23A>G	-	IntergenicSNV	-	2/23	1
3-138478544-G-A	c.-16-343C>T	-	IntergenicSNV	-	2/23	6
3-138478544-G-C	c.-16-343C>G	-	IntergenicSNV	-	2/23	6
3-138517384-A-G	c.-121-1975T>C	-	IntergenicSNV	-	1/23	1
3-138487815-G-C	c.-16-9614C>G	-	IntergenicSNV	-	2/23	1
3-138496809-T-A	c.-17+18496A>T	-	intron_variant	-	2/23	2
3-138496809-T-C	c.-17+18496A>G	-	intron_variant	-	2/23	2
3-138496809-T-G	c.-17+18496A>C	-	intron_variant	-	2/23	2
3-138510383-A-G	c.-17+4922T>C	-	intron_variant	-	2/23	1
3-138511762-C-T	c.-17+3543G>A	-	intron_variant	-	2/23	1
3-138514661-C-T	c.-17+644G>A	-	intron_variant	-	2/23	1
3-138522636-T-C	c.-121-7227A>G	-	intron_variant	-	1/23	1
3-138533503-G-C	c.-121-18094C>G	-	intron_variant	-	1/23	2
3-138537022-G-C	c.-122+16515C>G	-	intron_variant	-	1/23	1
3-138537022-G-T	c.-122+16515C>A	-	intron_variant	-	1/23	1
3-138544607-C-T	c.-122+8930G>A	-	intron_variant	-	1/23	1
3-138546889-G-A	c.-122+6648C>T	-	intron_variant	-	1/23	1
3-138549009-A-G	c.-122+4528T>C	-	intron_variant	-	1/23	1