NLRP7

NLRP7 NLR family pyrin domain containing 7

Annotation transcript: NM_001127255

1729 unique variant annotations were identified in 585 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
19-55435072-G-A	c.*36C>T	-	3-UTRSNV	11/11	-	1
19-55435072-G-C	c.*36C>G	-	3-UTRSNV	11/11	-	1
19-55435114-A-T	c.3108T>A	p.F1036L	Missense	11/11	-	1
19-55435122-C-A	c.3100G>T	p.D1034Y	Missense	11/11	-	2
19-55435122-C-T	c.3100G>A	p.D1034N	Missense	11/11	-	1
19-55435129-C-T	c.3093G>A	p.P1031=	Synonymous	11/11	-	1
19-55435130-G-A	c.3092C>T	p.P1031L	Missense	11/11	-	1
19-55435130-G-T	c.3092C>A	p.P1031Q	Missense	11/11	-	1
19-55435131-G-A	c.3091C>T	p.P1031S	Missense	11/11	-	1
19-55435131-G-C	c.3091C>G	p.P1031A	Missense	11/11	-	1
19-55435133-G-T	c.3089C>A	p.P1030H	Missense	11/11	-	3
19-55435136-G-A	c.3086C>T	p.A1029V	Missense	11/11	-	1
19-55435138-CG-GA	c.3083_3084delinsTC	p.T1028I	Missense	11/11	-	1
19-55435139-G-A	c.3083C>T	p.T1028M	Missense	11/11	-	1
19-55435140-T-C	c.3082A>G	p.T1028A	Missense	11/11	-	2
19-55435145-C-T	c.3077G>A	p.G1026E	Missense	11/11	-	2
19-55435146-C-T	c.3076G>A	p.G1026R	Missense	11/11	-	1
19-55435147-G-A	c.3075C>T	p.S1025=	Synonymous	11/11	-	4
19-55435147-G-C	c.3075C>G	p.S1025=	Synonymous	11/11	-	1
19-55435147-G-T	c.3075C>A	p.S1025=	Synonymous	11/11	-	1
19-55435148-G-A	c.3074C>T	p.S1025F	Missense	11/11	-	1
19-55435149-A-C	c.3073T>G	p.S1025A	Missense	11/11	-	1
19-55435154-T-A	c.3068A>T	p.N1023I	Missense	11/11	-	1
19-55435157-C-G	c.3065G>C	p.C1022S	Missense	11/11	-	1
19-55435157-C-T	c.3065G>A	p.C1022Y	Missense	11/11	-	1
19-55435160-T-A	c.3062A>T	p.D1021V	Missense	11/11	-	1
19-55435161-C-A	c.3061G>T	p.D1021Y	Missense	11/11	-	1
19-55435165-A-C	c.3057T>G	p.T1019=	Synonymous	11/11	-	1
19-55435165-A-G	c.3057T>C	p.T1019=	Synonymous	11/11	-	1
19-55435165-A-T	c.3057T>A	p.T1019=	Synonymous	11/11	-	1
19-55435176-G-C	c.3046C>G	p.P1016A	Missense	11/11	-	1
19-55435184-T-C	c.3038A>G	p.E1013G	Missense	11/11	-	1
19-55435195-C-T	c.3027G>A	p.E1009=	Synonymous	11/11	-	1
19-55435201-C-A	c.3021G>T	p.L1007=	Synonymous	11/11	-	1
19-55435201-CAG-ACA	c.3019_3021delinsTGT	p.L1007C	Missense	11/11	-	1
19-55435201-C-G	c.3021G>C	p.L1007=	Synonymous	11/11	-	1
19-55435201-C-T	c.3021G>A	p.L1007=	Synonymous	11/11	-	1
19-55435203-G-A	c.3019C>T	p.L1007=	Synonymous	11/11	-	2
19-55435223-G-A	c.2999C>T	p.T1000I	Missense	11/11	-	2
19-55435227-C-T	c.2995G>A	p.E999K	Missense	11/11	-	1
19-55435532-C-T	c.2982-292G>A	-	IntronicSNV	-	10/10	1
19-55438745-G-A	c.2981+228C>T	-	IntronicSNV	-	10/10	1
19-55438757-A-C	c.2981+216T>G	-	IntronicSNV	-	10/10	1
19-55438749-CA-C	c.2981+223del	-	IntronicDeletion	-	10/10	1
19-55438763-G-C	c.2981+210C>G	-	IntronicSNV	-	10/10	1
19-55438769-G-A	c.2981+204C>T	-	IntronicSNV	-	10/10	1
19-55438831-G-A	c.2981+142C>T	-	IntronicSNV	-	10/10	2
19-55438831-G-T	c.2981+142C>A	-	IntronicSNV	-	10/10	3
19-55438850-A-G	c.2981+123T>C	-	IntronicSNV	-	10/10	3
19-55438850-A-T	c.2981+123T>A	-	IntronicSNV	-	10/10	2
19-55438896-C-A	c.2981+77G>T	-	IntronicSNV	-	10/10	1
19-55438937-C-CA	c.2981+35dup	-	IntronicInsertion	-	10/10	1
19-55438940-AAAAC-A	c.2981+29_2981+32del	-	IntronicDeletion	-	10/10	1
19-55438944-C-A	c.2981+29G>T	-	IntronicSNV	-	10/10	1
19-55438973-C-G	c.2981G>C	p.R994T	Missense	10/11	-	1
19-55438981-C-T	c.2973G>A	p.K991=	Synonymous	10/11	-	1
19-55438982-T-G	c.2972A>C	p.K991T	Missense	10/11	-	1
19-55438986-A-G	c.2968T>C	p.L990=	Synonymous	10/11	-	1
19-55438988-G-A	c.2966C>T	p.S989F	Missense	10/11	-	4
19-55438991-C-A	c.2963G>T	p.G988V	Missense	10/11	-	1
19-55438992-C-G	c.2962G>C	p.G988R	Missense	10/11	-	1
19-55438992-C-T	c.2962G>A	p.G988R	Missense	10/11	-	2
19-55438996-T-A	c.2958A>T	p.R986S	Missense	10/11	-	1
19-55438996-T-G	c.2958A>C	p.R986S	Missense	10/11	-	1
19-55438997-C-A	c.2957G>T	p.R986I	Missense	10/11	-	4
19-55439000-T-C	c.2954A>G	p.Q985R	Missense	10/11	-	2
19-55439000-T-G	c.2954A>C	p.Q985P	Missense	10/11	-	2
19-55439003-C-T	c.2951G>A	p.R984K	UnclassifiedSNV	10/11	-	1
19-55439007-G-A	c.2947C>T	p.L983=	Synonymous	10/11	-	1
19-55439013-C-A	c.2941G>T	p.G981W	Missense	10/11	-	1
19-55439013-C-CT	c.2940_2941insA	p.G981Rfs*19	Frameshift	10/11	-	1
19-55439017-G-A	c.2937C>T	p.L979=	Synonymous	10/11	-	1
19-55439017-G-C	c.2937C>G	p.L979=	Synonymous	10/11	-	1
19-55439017-G-T	c.2937C>A	p.L979=	Synonymous	10/11	-	1
19-55439020-C-T	c.2934G>A	p.K978=	Synonymous	10/11	-	1
19-55439025-T-C	c.2929A>G	p.I977V	Missense	10/11	-	1
19-55439031-C-G	c.2923G>C	p.G975R	Missense	10/11	-	1
19-55439034-T-C	c.2920A>G	p.S974G	Missense	10/11	-	1
19-55439035-C-T	c.2919G>A	p.K973=	Synonymous	10/11	-	1
19-55439052-G-A	c.2902C>T	p.Q968*	Nonsense	10/11	-	1
19-55439053-G-A	c.2901C>T	p.G967=	Synonymous	10/11	-	1
19-55439054-C-T	c.2900G>A	p.G967D	Missense	10/11	-	1
19-55439055-C-T	c.2899G>A	p.G967S	Missense	10/11	-	1
19-55439056-C-A	c.2898G>T	p.L966L	UnclassifiedSNV	10/11	-	2
19-55439063-A-G	c.2891T>C	p.L964P	Missense	10/11	-	2
19-55439065-A-C	c.2889T>G	p.T963=	Synonymous	10/11	-	1
19-55439065-A-G	c.2889T>C	p.T963=	Synonymous	10/11	-	1
19-55439065-A-T	c.2889T>A	p.T963=	Synonymous	10/11	-	1
19-55439074-C-A	c.2880G>T	p.K960N	Missense	10/11	-	1
19-55439074-C-G	c.2880G>C	p.K960N	Missense	10/11	-	3
19-55439079-G-A	c.2875C>T	p.Q959*	Nonsense	10/11	-	2
19-55439079-G-C	c.2875C>G	p.Q959E	Missense	10/11	-	2
19-55439089-G-A	c.2865C>T	p.L955=	Synonymous	10/11	-	1
19-55439089-G-C	c.2865C>G	p.L955=	Synonymous	10/11	-	1
19-55439089-G-T	c.2865C>A	p.L955=	Synonymous	10/11	-	1
19-55439091-G-A	c.2863C>T	p.L955F	Missense	10/11	-	1
19-55439093-AGC-A	c.2860_2861del	p.A954Sfs*8	Frameshift	10/11	-	1
19-55439093-G-A	c.2861C>T	p.A954V	Missense	10/11	-	1
19-55439099-C-A	c.2855G>T	p.G952V	UnclassifiedSNV	10/11	-	1
19-55439115-A-G	c.2839T>C	p.Y947H	Missense	10/11	-	2
19-55439116-G-C	c.2838C>G	p.F946L	Missense	10/11	-	1
19-55439116-G-T	c.2838C>A	p.F946L	Missense	10/11	-	1
19-55439118-A-G	c.2836T>C	p.F946L	Missense	10/11	-	1
19-55439120-G-T	c.2834C>A	p.P945H	Missense	10/11	-	1
19-55439121-G-A	c.2833C>T	p.P945S	Missense	10/11	-	2
19-55439123-A-C	c.2831T>G	p.M944R	Missense	10/11	-	1
19-55439128-G-A	c.2826C>T	p.S942=	Synonymous	10/11	-	1
19-55439128-G-C	c.2826C>G	p.S942=	Synonymous	10/11	-	1
19-55439128-G-T	c.2826C>A	p.S942=	Synonymous	10/11	-	1
19-55439129-G-A	c.2825C>T	p.S942F	Missense	10/11	-	2
19-55439138-C-CG	c.2815_2816insC	p.W939Sfs*24	Frameshift	10/11	-	1
19-55439139-A-C	c.2815T>G	p.W939G	Missense	10/11	-	1
19-55439140-G-A	c.2814C>T	p.L938=	Synonymous	10/11	-	2
19-55439140-GAG-CAT	c.2812_2814delinsATG	p.L938M	Missense	10/11	-	1
19-55439140-G-C	c.2814C>G	p.L938=	Synonymous	10/11	-	2
19-55439140-G-T	c.2814C>A	p.L938=	Synonymous	10/11	-	2
19-55439166-T-C	c.2811-23A>G	-	IntronicSNV	-	9/10	3
19-55439168-C-G	c.2811-25G>C	-	IntronicSNV	-	9/10	3
19-55439197-A-C	c.2811-54T>G	-	IntronicSNV	-	9/10	2
19-55439197-A-T	c.2811-54T>A	-	IntronicSNV	-	9/10	2
19-55439371-A-G	c.2811-228T>C	-	IntronicSNV	-	9/10	2
19-55439821-G-T	c.2811-678C>A	-	IntronicSNV	-	9/10	1
19-55440357-G-A	c.2811-1214C>T	-	IntronicSNV	-	9/10	1
19-55441741-A-C	c.2810+126T>G	-	IntronicSNV	-	9/10	2
19-55441741-A-G	c.2810+126T>C	-	IntronicSNV	-	9/10	3
19-55441744-C-A	c.2810+123G>T	-	IntronicSNV	-	9/10	2
19-55441744-C-T	c.2810+123G>A	-	IntronicSNV	-	9/10	3
19-55441763-G-A	c.2810+104C>T	-	IntronicSNV	-	9/10	1
19-55441769-G-A	c.2810+98C>T	-	IntronicSNV	-	9/10	3
19-55441779-G-A	c.2810+88C>T	-	IntronicSNV	-	9/10	1
19-55441862-C-T	c.2810+5G>A	-	IntronicSNV	-	9/10	1
19-55441865-A-C	c.2810+2T>G	-	IntronicSNV	-	9/10	3
19-55441868-G-A	c.2809C>T	p.R937C	Missense	9/11	-	2
19-55441868-G-T	c.2809C>A	p.R937S	Missense	9/11	-	1
19-55441870-A-G	c.2807T>C	p.L936P	Missense	9/11	-	1
19-55441872-G-A	c.2805C>T	p.H935=	Synonymous	9/11	-	1
19-55441875-T-A	c.2802A>T	p.K934N	Missense	9/11	-	1
19-55441875-T-G	c.2802A>C	p.K934N	Missense	9/11	-	1
19-55441880-G-T	c.2797C>A	p.L933I	Missense	9/11	-	1
19-55441883-T-C	c.2794A>G	p.N932D	Missense	9/11	-	1
19-55441884-A-T	c.2793T>A	p.C931*	Nonsense	9/11	-	1
19-55441889-T-A	c.2788A>T	p.N930Y	Missense	9/11	-	1
19-55441891-G-A	c.2786C>T	p.P929L	Missense	9/11	-	2
19-55441892-G-A	c.2785C>T	p.P929S	Missense	9/11	-	2
19-55441893-A-G	c.2784T>C	p.N928=	Synonymous	9/11	-	1
19-55441896-C-A	c.2781G>T	p.E927D	Missense	9/11	-	2
19-55441896-C-G	c.2781G>C	p.E927D	Missense	9/11	-	2
19-55441896-C-T	c.2781G>A	p.E927=	Synonymous	9/11	-	1
19-55441900-A-C	c.2777T>G	p.L926*	Nonsense	9/11	-	1
19-55441900-A-T	c.2777T>A	p.L926*	Nonsense	9/11	-	1
19-55441902-T-A	c.2775A>T	p.A925=	Synonymous	9/11	-	12
19-55441902-T-C	c.2775A>G	p.A925=	Synonymous	9/11	-	22
19-55441905-C-A	c.2772G>T	p.Q924H	Missense	9/11	-	1
19-55441905-C-G	c.2772G>C	p.Q924H	Missense	9/11	-	1
19-55441913-G-A	c.2764C>T	p.L922F	Missense	9/11	-	1
19-55441917-C-T	c.2760G>A	p.W920*	Nonsense	9/11	-	7
19-55441916-TC-T	c.2760del	p.W920*	Frameshift	9/11	-	1
19-55441918-C-T	c.2759G>A	p.W920*	Nonsense	9/11	-	1
19-55441923-TCC-CCA	c.2752_2754delinsTGG	p.G918W	Missense	9/11	-	1
19-55441930-G-A	c.2747C>T	p.A916V	Missense	9/11	-	1
19-55441934-T-A	c.2743A>T	p.I915L	Missense	9/11	-	2
19-55441934-T-C	c.2743A>G	p.I915V	Missense	9/11	-	1
19-55441934-T-G	c.2743A>C	p.I915L	Missense	9/11	-	1
19-55441939-T-C	c.2738A>G	p.N913S	Missense	9/11	-	12
19-55441940-T-C	c.2737A>G	p.N913D	Missense	9/11	-	1
19-55441941-G-C	c.2736C>G	p.I912M	Missense	9/11	-	1
19-55441943-T-G	c.2734A>C	p.I912L	Missense	9/11	-	1
19-55441945-C-A	c.2732G>T	p.S911I	Missense	9/11	-	1
19-55441949-A-T	c.2728T>A	p.L910M	Missense	9/11	-	1
19-55441952-C-T	c.2725G>A	p.D909N	Missense	9/11	-	1
19-55441955-G-A	c.2722C>T	p.L908=	Synonymous	9/11	-	3
19-55441964-G-T	c.2713C>A	p.L905I	Missense	9/11	-	2
19-55441978-T-C	c.2699A>G	p.Q900R	Missense	9/11	-	1
19-55441979-G-A	c.2698C>T	p.Q900*	Nonsense	9/11	-	1
19-55441982-G-A	c.2695C>T	p.L899F	Missense	9/11	-	2
19-55441984-G-A	c.2693C>T	p.A898V	Missense	9/11	-	3
19-55441984-G-C	c.2693C>G	p.A898G	Missense	9/11	-	2
19-55441986-C-A	c.2691G>T	p.E897D	Missense	9/11	-	3
19-55441990-G-C	c.2687C>G	p.S896*	Nonsense	9/11	-	1
19-55441995-A-G	c.2682T>C	p.Y894=	Synonymous	9/11	-	21
19-55441998-TCT-ATG	c.2677_2679delinsCAT	p.R893H	Missense	9/11	-	1
19-55441999-C-A	c.2678G>T	p.R893I	Missense	9/11	-	2
19-55442002-C-A	c.2675G>T	p.C892F	Missense	9/11	-	1
19-55442002-C-T	c.2675G>A	p.C892Y	Missense	9/11	-	1
19-55442011-T-C	c.2666A>G	p.K889R	Missense	9/11	-	1
19-55442013-G-A	c.2664C>T	p.T888=	Synonymous	9/11	-	2
19-55442013-G-C	c.2664C>G	p.T888=	Synonymous	9/11	-	2
19-55442013-G-T	c.2664C>A	p.T888=	Synonymous	9/11	-	1
19-55442021-T-TG	c.2655dup	p.S886Qfs*8	Frameshift	9/11	-	2
19-55442022-G-T	c.2655C>A	p.C885*	Nonsense	9/11	-	1
19-55442028-C-A	c.2649G>T	p.Q883H	Missense	9/11	-	1
19-55442028-C-G	c.2649G>C	p.Q883H	Missense	9/11	-	1
19-55442030-G-A	c.2647C>T	p.Q883*	Nonsense	9/11	-	6
19-55442032-A-C	c.2645T>G	p.L882*	Nonsense	9/11	-	5
19-55442280-A-C	c.2643-246T>G	-	IntronicSNV	-	8/10	1
19-55444906-GCA-G	c.2642+29_2642+30del	-	IntronicDeletion	-	8/10	1
19-55444922-C-A	c.2642+15G>T	-	IntronicSNV	-	8/10	1
19-55444922-C-T	c.2642+15G>A	-	IntronicSNV	-	8/10	1
19-55444936-C-T	c.2642+1G>A	-	IntronicSNV	-	8/10	1
19-55444938-C-T	c.2641G>A	p.V881M	Missense	8/11	-	1
19-55444940-A-G	c.2639T>C	p.L880S	Missense	8/11	-	1
19-55444942-G-A	c.2637C>T	p.T879=	Synonymous	8/11	-	2
19-55444942-G-C	c.2637C>G	p.T879=	Synonymous	8/11	-	2
19-55444942-G-T	c.2637C>A	p.T879=	Synonymous	8/11	-	2
19-55444943-G-A	c.2636C>T	p.T879I	Missense	8/11	-	1
19-55444943-G-C	c.2636C>G	p.T879S	Missense	8/11	-	1
19-55444945-C-A	c.2634G>T	p.Q878H	Missense	8/11	-	2
19-55444954-A-C	c.2625T>G	p.C875W	Missense	8/11	-	1
19-55444961-G-A	c.2618C>T	p.P873L	Missense	8/11	-	4
19-55444962-G-A	c.2617C>T	p.P873S	Missense	8/11	-	1
19-55444966-A-T	c.2613T>A	p.S871R	Missense	8/11	-	1
19-55444974-C-G	c.2605G>C	p.G869R	Missense	8/11	-	2
19-55444983-G-A	c.2596C>T	p.L866=	Synonymous	8/11	-	4
19-55444986-A-G	c.2593T>C	p.F865L	Missense	8/11	-	1
19-55444986-A-T	c.2593T>A	p.F865I	Missense	8/11	-	5
19-55444989-T-C	c.2590A>G	p.K864E	Missense	8/11	-	1
19-55444990-C-T	c.2589G>A	p.V863=	Synonymous	8/11	-	2
19-55444993-C-T	c.2586G>A	p.G862=	Synonymous	8/11	-	2
19-55444994-C-T	c.2585G>A	p.G862E	Missense	8/11	-	2
19-55444995-C-G	c.2584G>C	p.G862R	Missense	8/11	-	2
19-55444995-C-T	c.2584G>A	p.G862R	Missense	8/11	-	3
19-55445001-C-T	c.2578G>A	p.D860N	Missense	8/11	-	7
19-55445002-C-T	c.2577G>A	p.G859=	Synonymous	8/11	-	1
19-55445003-C-A	c.2576G>T	p.G859V	Missense	8/11	-	1
19-55445004-C-T	c.2575G>A	p.G859R	Missense	8/11	-	5
19-55445005-A-G	c.2574T>C	p.I858=	Synonymous	8/11	-	1
19-55445006-A-G	c.2573T>C	p.I858T	Missense	8/11	-	6
19-55445007-T-A	c.2572A>T	p.I858F	Missense	8/11	-	1
19-55445008-G-A	c.2571C>T	p.P857=	Synonymous	8/11	-	1
19-55445009-G-A	c.2570C>T	p.P857L	Missense	8/11	-	2
19-55445009-G-T	c.2570C>A	p.P857H	Missense	8/11	-	1
19-55445010-G-A	c.2569C>T	p.P857S	Missense	8/11	-	3
19-55445007-T-TG	c.2571dup	p.I858Hfs*11	Frameshift	8/11	-	4
19-55445013-T-C	c.2566A>G	p.N856D	Missense	8/11	-	1
19-55445014-C-A	c.2565G>T	p.K855N	Missense	8/11	-	2
19-55445019-C-A	c.2560G>T	p.A854S	Missense	8/11	-	1
19-55445020-C-T	c.2559G>A	p.L853=	Synonymous	8/11	-	1
19-55445022-A-C	c.2557T>G	p.L853V	Missense	8/11	-	1
19-55445022-A-G	c.2557T>C	p.L853=	Synonymous	8/11	-	1
19-55445024-C-G	c.2555G>C	p.C852S	Missense	8/11	-	1
19-55445028-G-A	c.2551C>T	p.L851=	Synonymous	8/11	-	1
19-55445030-T-G	c.2549A>C	p.H850P	Missense	8/11	-	1
19-55445039-CTTCTT-C	c.2536_2540del	p.K846Afs*21	Frameshift	8/11	-	1
19-55445041-C-G	c.2538G>C	p.K846N	Missense	8/11	-	1
19-55445043-T-C	c.2536A>G	p.K846E	Missense	8/11	-	1
19-55445043-T-TAAGAA	c.2535_2536insTTCTT	p.K846Ffs*5	Frameshift	8/11	-	1
19-55445051-A-G	c.2528T>C	p.V843A	Missense	8/11	-	1
19-55445053-C-T	c.2526G>A	p.L842=	Synonymous	8/11	-	1
19-55445055-A-G	c.2524T>C	p.L842=	Synonymous	8/11	-	1
19-55445059-A-C	c.2520T>G	p.A840=	Synonymous	8/11	-	1
19-55445059-A-G	c.2520T>C	p.A840=	Synonymous	8/11	-	1
19-55445059-A-T	c.2520T>A	p.A840=	Synonymous	8/11	-	1
19-55445066-A-C	c.2513T>G	p.L838R	Missense	8/11	-	1
19-55445073-T-C	c.2506A>G	p.K836E	Missense	8/11	-	1
19-55445074-G-A	c.2505C>T	p.C835=	Synonymous	8/11	-	1
19-55445082-C-T	c.2497G>A	p.A833T	Missense	8/11	-	3
19-55445085-C-T	c.2494G>A	p.E832K	Missense	8/11	-	2
19-55445089-A-G	c.2490T>C	p.L830=	Synonymous	8/11	-	1
19-55445091-G-GA	c.2487dup	p.L830Sfs*39	Frameshift	8/11	-	1
19-55445093-C-T	c.2486G>A	p.R829H	Missense	8/11	-	2
19-55445094-G-A	c.2485C>T	p.R829C	Missense	8/11	-	5
19-55445094-GAC-G	c.2483_2484del	p.C828Sfs*40	Frameshift	8/11	-	1
19-55445100-T-A	c.2479A>T	p.N827Y	Missense	8/11	-	1
19-55445103-C-T	c.2476G>A	p.E826K	Missense	8/11	-	2
19-55445105-A-G	c.2474T>C	p.L825S	Missense	8/11	-	1
19-55445105-A-T	c.2474T>A	p.L825*	Nonsense	8/11	-	6
19-55445106-A-G	c.2473T>C	p.L825=	Synonymous	8/11	-	1
19-55445174-T-A	c.2472-67A>T	-	IntronicSNV	-	7/10	3
19-55445174-T-C	c.2472-67A>G	-	IntronicSNV	-	7/10	3
19-55445395-G-A	c.2472-288C>T	-	IntronicSNV	-	7/10	1
19-55445395-G-T	c.2472-288C>A	-	IntronicSNV	-	7/10	1
19-55445775-G-GC	c.2471+81_2471+82insG	-	IntronicInsertion	-	7/10	1
19-55445775-G-GT	c.2471+81_2471+82insA	-	IntronicInsertion	-	7/10	1
19-55445856-C-T	c.2471+1G>A	-	IntronicSNV	-	7/10	8
19-55445857-G-A	c.2471C>T	p.S824L	Missense	7/11	-	2
19-55445860-A-T	c.2468T>A	p.L823*	Nonsense	7/11	-	4
19-55445859-C-T	c.2469G>A	p.L823=	Synonymous	7/11	-	1
19-55445861-A-G	c.2467T>C	p.L823=	Synonymous	7/11	-	1
19-55445865-C-T	c.2463G>A	p.Q821=	Synonymous	7/11	-	1
19-55445866-T-C	c.2462A>G	p.Q821R	Missense	7/11	-	1
19-55445870-G-A	c.2458C>T	p.L820=	Synonymous	7/11	-	1
19-55445871-G-A	c.2457C>T	p.F819=	Synonymous	7/11	-	5
19-55445872-A-C	c.2456T>G	p.F819C	Missense	7/11	-	3
19-55445874-G-C	c.2454C>G	p.H818Q	Missense	7/11	-	1
19-55445874-G-T	c.2454C>A	p.H818Q	Missense	7/11	-	1
19-55445875-T-A	c.2453A>T	p.H818L	Missense	7/11	-	1
19-55445881-G-T	c.2447C>A	p.P816Q	Missense	7/11	-	2
19-55445884-C-A	c.2444G>T	p.R815L	Missense	7/11	-	2
19-55445884-C-T	c.2444G>A	p.R815H	Missense	7/11	-	7
19-55445885-G-A	c.2443C>T	p.R815C	Missense	7/11	-	3
19-55445889-C-A	c.2439G>T	p.M813I	Missense	7/11	-	1
19-55445889-C-G	c.2439G>C	p.M813I	Missense	7/11	-	1
19-55445889-C-T	c.2439G>A	p.M813I	Missense	7/11	-	2
19-55445890-A-C	c.2438T>G	p.M813R	Missense	7/11	-	1
19-55445890-A-G	c.2438T>C	p.M813T	Missense	7/11	-	1
19-55445892-G-A	c.2436C>T	p.T812=	Synonymous	7/11	-	1
19-55445895-C-T	c.2433G>A	p.K811=	Synonymous	7/11	-	1
19-55445901-C-T	c.2427G>A	p.L809=	Synonymous	7/11	-	1
19-55445904-C-T	c.2424G>A	p.L808=	Synonymous	7/11	-	1
19-55445906-A-G	c.2422T>C	p.L808=	Synonymous	7/11	-	1
19-55445908-A-C	c.2420T>G	p.M807R	Missense	7/11	-	1
19-55445910-G-T	c.2418C>A	p.A806=	Synonymous	7/11	-	1
19-55445922-C-A	c.2406G>T	p.L802=	Synonymous	7/11	-	3
19-55445922-C-G	c.2406G>C	p.L802=	Synonymous	7/11	-	3
19-55445922-C-T	c.2406G>A	p.L802=	Synonymous	7/11	-	4
19-55445924-G-A	c.2404C>T	p.L802=	Synonymous	7/11	-	3
19-55445927-G-A	c.2401C>T	p.L801F	Missense	7/11	-	7
19-55445929-A-G	c.2399T>C	p.V800A	Missense	7/11	-	1
19-55445942-G-A	c.2386C>T	p.L796F	Missense	7/11	-	2
19-55445944-C-T	c.2384G>A	p.R795H	Missense	7/11	-	1
19-55445945-G-A	c.2383C>T	p.R795C	Missense	7/11	-	1
19-55445948-G-A	c.2380C>T	p.L794=	Synonymous	7/11	-	1
19-55445952-C-A	c.2376G>T	p.K792N	Missense	7/11	-	2
19-55445959-G-A	c.2369C>T	p.S790F	Missense	7/11	-	4
19-55445959-G-T	c.2369C>A	p.S790Y	Missense	7/11	-	1
19-55445964-G-C	c.2364C>G	p.N788K	Missense	7/11	-	2
19-55445965-T-C	c.2363A>G	p.N788S	Missense	7/11	-	1
19-55445970-T-C	c.2358A>G	p.K786=	Synonymous	7/11	-	1
19-55445979-A-T	c.2349T>A	p.Y783*	Nonsense	7/11	-	1
19-55445980-T-C	c.2348A>G	p.Y783C	Missense	7/11	-	2
19-55445982-G-T	c.2346C>A	p.F782L	Missense	7/11	-	2
19-55445985-G-A	c.2343C>T	p.F781=	Synonymous	7/11	-	1
19-55445985-G-C	c.2343C>G	p.F781L	Missense	7/11	-	1
19-55445987-A-G	c.2341T>C	p.F781L	Missense	7/11	-	1
19-55445990-C-G	c.2338G>C	p.E780Q	Missense	7/11	-	2
19-55445991-A-G	c.2337T>C	p.A779=	Synonymous	7/11	-	1
19-55445992-G-T	c.2336C>A	p.A779D	Missense	7/11	-	1
19-55445993-C-T	c.2335G>A	p.A779T	Missense	7/11	-	1
19-55445994-C-T	c.2334G>A	p.W778*	Nonsense	7/11	-	4
19-55445995-C-T	c.2333G>A	p.W778*	Nonsense	7/11	-	3
19-55445998-T-C	c.2330A>G	p.Q777R	Missense	7/11	-	1
19-55446002-C-T	c.2326G>A	p.E776K	Missense	7/11	-	4
19-55446003-C-A	c.2325G>T	p.P775=	Synonymous	7/11	-	1
19-55446003-C-G	c.2325G>C	p.P775=	Synonymous	7/11	-	1
19-55446003-C-T	c.2325G>A	p.P775=	Synonymous	7/11	-	1
19-55446005-G-T	c.2323C>A	p.P775T	Missense	7/11	-	4
19-55446007-G-A	c.2321C>T	p.T774I	Missense	7/11	-	1
19-55446007-G-C	c.2321C>G	p.T774S	Missense	7/11	-	1
19-55446013-C-A	c.2315G>T	p.C772F	Missense	7/11	-	1
19-55446022-C-T	c.2306G>A	p.G769E	Missense	7/11	-	1
19-55446023-C-A	c.2305G>T	p.G769*	Nonsense	7/11	-	2
19-55446027-C-A	c.2301G>T	p.R767S	Missense	7/11	-	2
19-55446027-C-G	c.2301G>C	p.R767S	Missense	7/11	-	1
19-55446170-C-T	c.2301-143G>A	-	IntronicSNV	-	6/10	1
19-55446325-G-A	c.2301-298C>T	-	IntronicSNV	-	6/10	1
19-55446594-G-A	c.2301-567C>T	-	IntronicSNV	-	6/10	1
19-55447572-A-G	c.2300+57T>C	-	IntronicSNV	-	6/10	3
19-55447595-A-G	c.2300+34T>C	-	IntronicSNV	-	6/10	4
19-55447612-G-A	c.2300+17C>T	-	IntronicSNV	-	6/10	1
19-55447612-G-T	c.2300+17C>A	-	IntronicSNV	-	6/10	3
19-55447617-C-T	c.2300+12G>A	-	IntronicSNV	-	6/10	1
19-55447631-C-A	c.2298G>T	p.L766=	Synonymous	6/11	-	3
19-55447631-C-G	c.2298G>C	p.L766=	Synonymous	6/11	-	4
19-55447631-C-T	c.2298G>A	p.L766=	Synonymous	6/11	-	3
19-55447633-G-A	c.2296C>T	p.L766=	Synonymous	6/11	-	5
19-55447640-C-A	c.2289G>T	p.L763=	Synonymous	6/11	-	1
19-55447643-G-T	c.2286C>A	p.N762K	Missense	6/11	-	2
19-55447647-C-T	c.2282G>A	p.C761Y	Missense	6/11	-	2
19-55447651-T-C	c.2278A>G	p.K760E	Missense	6/11	-	2
19-55447652-A-G	c.2277T>C	p.H759=	Synonymous	6/11	-	2
19-55447654-G-A	c.2275C>T	p.H759Y	Missense	6/11	-	10
19-55447657-T-G	c.2272A>C	p.N758H	Missense	6/11	-	1
19-55447658-T-C	c.2271A>G	p.R757=	Synonymous	6/11	-	1
19-55447660-T-G	c.2269A>C	p.R757=	Synonymous	6/11	-	1
19-55447659-C-A	c.2270G>T	p.R757I	Missense	6/11	-	3
19-55447659-C-G	c.2270G>C	p.R757T	Missense	6/11	-	1
19-55447667-G-C	c.2262C>G	p.D754E	Missense	6/11	-	1
19-55447667-G-T	c.2262C>A	p.D754E	Missense	6/11	-	1
19-55447675-G-C	c.2254C>G	p.L752V	Missense	6/11	-	1
19-55447680-A-T	c.2249T>A	p.L750Q	Missense	6/11	-	2
19-55447681-G-C	c.2248C>G	p.L750V	Missense	6/11	-	13
19-55447686-A-G	c.2243T>C	p.M748T	Missense	6/11	-	2
19-55447688-C-T	c.2241G>A	p.T747=	Synonymous	6/11	-	3
19-55447689-G-A	c.2240C>T	p.T747M	Missense	6/11	-	2
19-55447691-GC-TT	c.2237_2238delinsAA	p.R746Q	Missense	6/11	-	1
19-55447692-C-T	c.2237G>A	p.R746H	Missense	6/11	-	4
19-55447693-G-A	c.2236C>T	p.R746C	Missense	6/11	-	3
19-55447696-C-T	c.2233G>A	p.E745K	Missense	6/11	-	2
19-55447697-C-A	c.2232G>T	p.W744C	Missense	6/11	-	1
19-55447697-C-G	c.2232G>C	p.W744C	Missense	6/11	-	1
19-55447697-C-T	c.2232G>A	p.W744*	Nonsense	6/11	-	1
19-55447698-C-T	c.2231G>A	p.W744*	Nonsense	6/11	-	1
19-55447703-G-A	c.2226C>T	p.I742=	Synonymous	6/11	-	10
19-55447703-G-T	c.2226C>A	p.I742=	Synonymous	6/11	-	3
19-55447708-G-A	c.2221C>T	p.H741Y	Missense	6/11	-	2
19-55447709-C-T	c.2220G>A	p.G740=	Synonymous	6/11	-	2
19-55447710-C-T	c.2219G>A	p.G740E	Missense	6/11	-	1
19-55447713-G-T	c.2216C>A	p.A739E	Missense	6/11	-	5
19-55447715-C-A	c.2214G>T	p.L738=	Synonymous	6/11	-	1
19-55447715-C-G	c.2214G>C	p.L738=	Synonymous	6/11	-	1
19-55447715-C-T	c.2214G>A	p.L738=	Synonymous	6/11	-	1
19-55447716-A-G	c.2213T>C	p.L738P	Missense	6/11	-	1
19-55447717-G-A	c.2212C>T	p.L738=	Synonymous	6/11	-	3
19-55447717-G-C	c.2212C>G	p.L738V	Missense	6/11	-	1
19-55447723-G-A	c.2206C>T	p.L736=	Synonymous	6/11	-	4
19-55447726-G-A	c.2203C>T	p.H735Y	Missense	6/11	-	1
19-55447727-C-A	c.2202G>T	p.T734=	Synonymous	6/11	-	1
19-55447727-C-G	c.2202G>C	p.T734=	Synonymous	6/11	-	1
19-55447727-C-T	c.2202G>A	p.T734=	Synonymous	6/11	-	4
19-55447728-G-A	c.2201C>T	p.T734M	Missense	6/11	-	1
19-55447732-G-A	c.2197C>T	p.L733F	Missense	6/11	-	1
19-55447735-T-C	c.2194A>G	p.T732A	Missense	6/11	-	4
19-55447736-C-A	c.2193G>T	p.K731N	Missense	6/11	-	1
19-55447736-C-G	c.2193G>C	p.K731N	Missense	6/11	-	1
19-55447738-T-C	c.2191A>G	p.K731E	Missense	6/11	-	1
19-55447742-C-T	c.2187G>A	p.G729=	Synonymous	6/11	-	5
19-55447743-C-A	c.2186G>T	p.G729V	Missense	6/11	-	2
19-55447744-C-A	c.2185G>T	p.G729W	Missense	6/11	-	1
19-55447745-A-G	c.2184T>C	p.I728=	Synonymous	6/11	-	1
19-55447745-A-T	c.2184T>A	p.I728=	Synonymous	6/11	-	1
19-55447748-G-A	c.2181C>T	p.F727=	Synonymous	6/11	-	3
19-55447752-G-A	c.2177C>T	p.A726V	Missense	6/11	-	1
19-55447756-G-A	c.2173C>T	p.L725F	Missense	6/11	-	1
19-55447758-C-T	c.2171G>A	p.C724Y	Missense	6/11	-	1
19-55447764-T-C	c.2165A>G	p.D722G	Missense	6/11	-	2
19-55447766-C-T	c.2163G>A	p.R721=	Synonymous	6/11	-	6
19-55447767-C-A	c.2162G>T	p.R721L	Missense	6/11	-	1
19-55447767-C-T	c.2162G>A	p.R721Q	Missense	6/11	-	2
19-55447766-C-A	c.2163G>T	p.R721=	Synonymous	6/11	-	1
19-55447766-C-G	c.2163G>C	p.R721=	Synonymous	6/11	-	1
19-55447768-G-A	c.2161C>T	p.R721W	Missense	6/11	-	12
19-55447768-G-T	c.2161C>A	p.R721=	Synonymous	6/11	-	1
19-55447766-CCGGTACG-C	c.2156_2162del	p.A719Gfs*16	Frameshift	6/11	-	1
19-55447772-C-A	c.2157G>T	p.A719=	Synonymous	6/11	-	4
19-55447772-C-G	c.2157G>C	p.A719=	Synonymous	6/11	-	4
19-55447772-C-T	c.2157G>A	p.A719=	Synonymous	6/11	-	6
19-55447773-G-A	c.2156C>T	p.A719V	Missense	6/11	-	17
19-55447774-C-T	c.2155G>A	p.A719T	Missense	6/11	-	4
19-55447775-G-A	c.2154C>T	p.T718=	Synonymous	6/11	-	3
19-55447775-G-C	c.2154C>G	p.T718=	Synonymous	6/11	-	1
19-55447775-G-T	c.2154C>A	p.T718=	Synonymous	6/11	-	1
19-55447780-C-A	c.2149G>T	p.D717Y	Missense	6/11	-	1
19-55447780-C-T	c.2149G>A	p.D717N	Missense	6/11	-	1
19-55447781-A-G	c.2148T>C	p.P716=	Synonymous	6/11	-	1
19-55447782-G-T	c.2147C>A	p.P716H	Missense	6/11	-	1
19-55447783-G-A	c.2146C>T	p.P716S	Missense	6/11	-	2
19-55447783-G-C	c.2146C>G	p.P716A	Missense	6/11	-	2
19-55447783-G-T	c.2146C>A	p.P716T	Missense	6/11	-	1
19-55447781-AG-A	c.2147del	p.P716Lfs*21	Frameshift	6/11	-	1
19-55447787-G-A	c.2142C>T	p.V714=	Synonymous	6/11	-	1
19-55447787-G-C	c.2142C>G	p.V714=	Synonymous	6/11	-	1
19-55447787-G-T	c.2142C>A	p.V714=	Synonymous	6/11	-	1
19-55447788-A-G	c.2141T>C	p.V714A	Missense	6/11	-	3
19-55447790-G-GT	c.2138dup	p.N713Kfs*5	Frameshift	6/11	-	1
19-55447798-ATC-A	c.2130_2131del	p.E710Dfs*2	SpliceAcceptorDeletion	6/11	-	1
19-55447840-A-C	c.2130-41T>G	-	IntronicSNV	-	5/10	4
19-55447840-A-G	c.2130-41T>C	-	IntronicSNV	-	5/10	4
19-55449290-AG-A	c.2129+122del	-	IntronicDeletion	-	5/10	1
19-55449415-A-G	c.2126T>C	p.V709A	Missense	5/11	-	1
19-55449417-T-A	c.2124A>T	p.K708N	Missense	5/11	-	1
19-55449417-T-G	c.2124A>C	p.K708N	Missense	5/11	-	1
19-55449419-T-C	c.2122A>G	p.K708E	Missense	5/11	-	1
19-55449423-C-A	c.2118G>T	p.L706=	Synonymous	5/11	-	1
19-55449423-C-G	c.2118G>C	p.L706=	Synonymous	5/11	-	1
19-55449423-C-T	c.2118G>A	p.L706=	Synonymous	5/11	-	2
19-55449425-G-A	c.2116C>T	p.L706=	Synonymous	5/11	-	1
19-55449430-C-T	c.2111G>A	p.C704Y	Missense	5/11	-	1
19-55449431-A-C	c.2110T>G	p.C704G	Missense	5/11	-	1
19-55449432-G-A	c.2109C>T	p.T703=	Synonymous	5/11	-	1
19-55449432-G-T	c.2109C>A	p.T703=	Synonymous	5/11	-	2
19-55449433-G-C	c.2108C>G	p.T703S	Missense	5/11	-	1
19-55449434-T-A	c.2107A>T	p.T703S	Missense	5/11	-	1
19-55449436-C-A	c.2105G>T	p.S702I	Missense	5/11	-	1
19-55449436-C-T	c.2105G>A	p.S702N	Missense	5/11	-	2
19-55449439-C-A	c.2102G>T	p.R701L	Missense	5/11	-	1
19-55449439-C-T	c.2102G>A	p.R701H	Missense	5/11	-	1
19-55449440-G-A	c.2101C>T	p.R701C	Missense	5/11	-	3
19-55449440-G-C	c.2101C>G	p.R701G	Missense	5/11	-	1
19-55449441-G-A	c.2100C>T	p.T700=	Synonymous	5/11	-	1
19-55449442-G-A	c.2099C>T	p.T700I	Missense	5/11	-	1
19-55449446-C-T	c.2095G>A	p.V699I	Missense	5/11	-	5
19-55449449-G-A	c.2092C>T	p.H698Y	Missense	5/11	-	1
19-55449452-C-A	c.2089G>T	p.D697Y	Missense	5/11	-	1
19-55449452-C-T	c.2089G>A	p.D697N	Missense	5/11	-	1
19-55449458-G-C	c.2083C>G	p.L695V	Missense	5/11	-	1
19-55449462-CCG-GTC	c.2077_2079delinsGAC	p.R693D	Missense	5/11	-	1
19-55449463-C-A	c.2078G>T	p.R693L	Missense	5/11	-	1
19-55449463-C-G	c.2078G>C	p.R693P	Missense	5/11	-	12
19-55449463-CG-AT	c.2077_2078delinsAT	p.R693M	Missense	5/11	-	1
19-55449463-C-T	c.2078G>A	p.R693Q	Missense	5/11	-	5
19-55449462-C-A	c.2079G>T	p.R693=	Synonymous	5/11	-	2
19-55449462-C-G	c.2079G>C	p.R693=	Synonymous	5/11	-	1
19-55449462-C-T	c.2079G>A	p.R693=	Synonymous	5/11	-	1
19-55449464-G-A	c.2077C>T	p.R693W	Missense	5/11	-	13
19-55449464-G-C	c.2077C>G	p.R693G	Missense	5/11	-	1
19-55449464-G-T	c.2077C>A	p.R693=	Synonymous	5/11	-	1
19-55449465-CAC-GAT	c.2074_2076delinsATC	p.V692I	Missense	5/11	-	1
19-55449476-C-T	c.2065G>A	p.D689N	Missense	5/11	-	5
19-55449481-A-C	c.2060T>G	p.L687R	Missense	5/11	-	1
19-55449482-G-C	c.2059C>G	p.L687V	Missense	5/11	-	1
19-55449482-G-T	c.2059C>A	p.L687M	Missense	5/11	-	1
19-55449483-G-A	c.2058C>T	p.F686=	Synonymous	5/11	-	1
19-55449483-G-C	c.2058C>G	p.F686L	Missense	5/11	-	1
19-55449483-G-T	c.2058C>A	p.F686L	Missense	5/11	-	1
19-55449485-A-G	c.2056T>C	p.F686L	Missense	5/11	-	2
19-55449486-G-A	c.2055C>T	p.S685=	Synonymous	5/11	-	1
19-55449487-CT-TA	c.2053_2054delinsTA	p.S685Y	Missense	5/11	-	1
19-55449488-T-C	c.2053A>G	p.S685G	Missense	5/11	-	1
19-55449492-T-C	c.2049A>G	p.K683=	Synonymous	5/11	-	4
19-55449493-T-C	c.2048A>G	p.K683R	Missense	5/11	-	1
19-55449495-C-T	c.2046G>A	p.V682=	Synonymous	5/11	-	2
19-55449498-T-A	c.2043A>T	p.E681D	Missense	5/11	-	1
19-55449498-T-G	c.2043A>C	p.E681D	Missense	5/11	-	1
19-55449499-T-G	c.2042A>C	p.E681A	Missense	5/11	-	1
19-55449500-C-T	c.2041G>A	p.E681K	Missense	5/11	-	4
19-55449503-G-A	c.2038C>T	p.L680=	Synonymous	5/11	-	2
19-55449504-A-G	c.2037T>C	p.F679=	Synonymous	5/11	-	2
19-55449507-C-A	c.2034G>T	p.K678N	Missense	5/11	-	1
19-55449507-C-G	c.2034G>C	p.K678N	Missense	5/11	-	1
19-55449507-C-T	c.2034G>A	p.K678=	Synonymous	5/11	-	1
19-55449508-T-G	c.2033A>C	p.K678T	Missense	5/11	-	1
19-55449510-G-A	c.2031C>T	p.L677=	Synonymous	5/11	-	2
19-55449510-G-C	c.2031C>G	p.L677=	Synonymous	5/11	-	1
19-55449510-G-T	c.2031C>A	p.L677=	Synonymous	5/11	-	1
19-55449511-A-G	c.2030T>C	p.L677P	Missense	5/11	-	2
19-55449511-GA-G	c.2030del	p.L677Pfs*6	Frameshift	5/11	-	1
19-55449512-G-C	c.2029C>G	p.L677V	Missense	5/11	-	1
19-55449513-G-A	c.2028C>T	p.N676=	Synonymous	5/11	-	1
19-55449516-G-T	c.2025C>A	p.S675R	Missense	5/11	-	1
19-55449517-C-G	c.2024G>C	p.S675T	Missense	5/11	-	1
19-55449518-T-C	c.2023A>G	p.S675G	Missense	5/11	-	1
19-55449520-T-A	c.2021A>T	p.N674I	Missense	5/11	-	2
19-55449520-T-C	c.2021A>G	p.N674S	Missense	5/11	-	1
19-55449521-T-G	c.2020A>C	p.N674H	Missense	5/11	-	1
19-55449523-G-C	c.2018C>G	p.S673*	Nonsense	5/11	-	6
19-55449523-G-T	c.2018C>A	p.S673*	Nonsense	5/11	-	1
19-55449524-A-G	c.2017T>C	p.S673P	Missense	5/11	-	1
19-55449525-G-C	c.2016C>G	p.S672R	Missense	5/11	-	1
19-55449525-G-T	c.2016C>A	p.S672R	Missense	5/11	-	1
19-55449527-T-G	c.2014A>C	p.S672R	Missense	5/11	-	1
19-55449528-G-A	c.2013C>T	p.F671=	Synonymous	5/11	-	1
19-55449535-G-A	c.2006C>T	p.S669F	Missense	5/11	-	5
19-55449529-AAG-A	c.2010_2011del	p.F671Qfs*18	Frameshift	5/11	-	2
19-55449539-A-G	c.2002T>C	p.C668R	Missense	5/11	-	1
19-55449540-G-C	c.2001C>G	p.F667L	Missense	5/11	-	1
19-55449540-G-T	c.2001C>A	p.F667L	Missense	5/11	-	1
19-55449545-C-T	c.1996G>A	p.D666N	Missense	5/11	-	1
19-55449547-G-C	c.1994C>G	p.T665R	Missense	5/11	-	1
19-55449547-G-T	c.1994C>A	p.T665K	Missense	5/11	-	1
19-55449550-C-A	c.1991G>T	p.W664L	Missense	5/11	-	1
19-55449552-G-A	c.1989C>T	p.L663=	Synonymous	5/11	-	1
19-55449552-G-C	c.1989C>G	p.L663=	Synonymous	5/11	-	1
19-55449552-G-T	c.1989C>A	p.L663=	Synonymous	5/11	-	1
19-55449554-G-A	c.1987C>T	p.L663F	Missense	5/11	-	1
19-55449557-G-A	c.1984C>T	p.R662C	Missense	5/11	-	12
19-55449557-G-T	c.1984C>A	p.R662S	Missense	5/11	-	1
19-55449560-G-A	c.1981C>T	p.L661F	Missense	5/11	-	3
19-55449562-G-A	c.1979C>T	p.S660F	Missense	5/11	-	1
19-55449562-G-C	c.1979C>G	p.S660C	Missense	5/11	-	3
19-55449565-C-A	c.1976G>T	p.R659L	Missense	5/11	-	2
19-55449565-C-T	c.1976G>A	p.R659H	Missense	5/11	-	5
19-55449566-G-A	c.1975C>T	p.R659C	Missense	5/11	-	11
19-55449571-T-A	c.1970A>T	p.D657V	Missense	5/11	-	2
19-55449572-C-T	c.1969G>A	p.D657N	Missense	5/11	-	2
19-55449577-C-T	c.1964G>A	p.R655Q	Missense	5/11	-	1
19-55449578-G-A	c.1963C>T	p.R655W	Missense	5/11	-	1
19-55449581-C-T	c.1960G>A	p.A654T	Missense	5/11	-	1
19-55449584-A-C	c.1957T>G	p.W653G	Missense	5/11	-	1
19-55449585-G-C	c.1956C>G	p.N652K	Missense	5/11	-	1
19-55449588-C-A	c.1953G>T	p.P651=	Synonymous	5/11	-	5
19-55449588-C-G	c.1953G>C	p.P651=	Synonymous	5/11	-	5
19-55449588-C-T	c.1953G>A	p.P651=	Synonymous	5/11	-	10
19-55449589-G-A	c.1952C>T	p.P651L	Missense	5/11	-	8
19-55449590-G-A	c.1951C>T	p.P651S	Missense	5/11	-	11
19-55449592-A-G	c.1949T>C	p.I650T	Missense	5/11	-	1
19-55449755-G-A	c.1932-146C>T	-	IntronicSNV	-	4/10	3
19-55450232-G-A	c.1931+24C>T	-	IntronicSNV	-	4/10	1
19-55450259-T-A	c.1928A>T	p.E643V	Missense	4/11	-	1
19-55450260-C-T	c.1927G>A	p.E643K	Missense	4/11	-	1
19-55450266-C-T	c.1921G>A	p.E641K	Missense	4/11	-	1
19-55450273-CAG-AAA	c.1912_1914delinsTTT	p.L638F	Missense	4/11	-	1
19-55450275-G-T	c.1912C>A	p.L638M	Missense	4/11	-	1
19-55450278-C-A	c.1909G>T	p.E637*	Nonsense	4/11	-	2
19-55450278-C-G	c.1909G>C	p.E637Q	Missense	4/11	-	1
19-55450285-C-A	c.1902G>T	p.M634I	Missense	4/11	-	2
19-55450285-C-G	c.1902G>C	p.M634I	Missense	4/11	-	2
19-55450285-C-T	c.1902G>A	p.M634I	Missense	4/11	-	10
19-55450294-C-A	c.1893G>T	p.E631D	Missense	4/11	-	1
19-55450294-C-G	c.1893G>C	p.E631D	Missense	4/11	-	1
19-55450294-C-T	c.1893G>A	p.E631=	Synonymous	4/11	-	1
19-55450296-C-T	c.1891G>A	p.E631K	Missense	4/11	-	2
19-55450297-C-T	c.1890G>A	p.L630=	Synonymous	4/11	-	1
19-55450300-G-A	c.1887C>T	p.F629=	Synonymous	4/11	-	5
19-55450300-G-C	c.1887C>G	p.F629L	Missense	4/11	-	1
19-55450300-G-T	c.1887C>A	p.F629L	Missense	4/11	-	1
19-55450302-A-G	c.1885T>C	p.F629L	Missense	4/11	-	3
19-55450305-C-T	c.1882G>A	p.V628M	Missense	4/11	-	1
19-55450306-C-A	c.1881G>T	p.G627=	Synonymous	4/11	-	1
19-55450306-C-G	c.1881G>C	p.G627=	Synonymous	4/11	-	1
19-55450306-C-T	c.1881G>A	p.G627=	Synonymous	4/11	-	1
19-55450308-C-G	c.1879G>C	p.G627R	Missense	4/11	-	2
19-55450308-C-T	c.1879G>A	p.G627R	Missense	4/11	-	3
19-55450313-G-A	c.1874C>T	p.A625V	Missense	4/11	-	1
19-55450315-T-A	c.1872A>T	p.V624=	Synonymous	4/11	-	1
19-55450321-C-A	c.1866G>T	p.L622=	Synonymous	4/11	-	1
19-55450321-C-G	c.1866G>C	p.L622=	Synonymous	4/11	-	1
19-55450321-C-T	c.1866G>A	p.L622=	Synonymous	4/11	-	1
19-55450323-G-A	c.1864C>T	p.L622=	Synonymous	4/11	-	1
19-55450324-T-G	c.1863A>C	p.S621=	Synonymous	4/11	-	1
19-55450327-G-A	c.1860C>T	p.L620=	Synonymous	4/11	-	1
19-55450329-G-C	c.1858C>G	p.L620V	Missense	4/11	-	1
19-55450331-T-G	c.1856A>C	p.K619T	Missense	4/11	-	4
19-55450333-C-A	c.1854G>T	p.Q618H	Missense	4/11	-	2
19-55450333-C-G	c.1854G>C	p.Q618H	Missense	4/11	-	1
19-55450339-G-C	c.1848C>G	p.D616E	Missense	4/11	-	1
19-55450339-G-T	c.1848C>A	p.D616E	Missense	4/11	-	2
19-55450342-T-A	c.1845A>T	p.Q615H	Missense	4/11	-	1
19-55450357-G-C	c.1830C>G	p.S610R	Missense	4/11	-	1
19-55450357-G-T	c.1830C>A	p.S610R	Missense	4/11	-	1
19-55450359-T-G	c.1828A>C	p.S610R	Missense	4/11	-	1
19-55450358-C-CGGAGGTTGCAG	c.1828_1829insCTGCAACCTCC	p.S610Tfs*6	Frameshift	4/11	-	1
19-55450363-G-A	c.1824C>T	p.S608=	Synonymous	4/11	-	1
19-55450364-G-A	c.1823C>T	p.S608F	Missense	4/11	-	2
19-55450364-G-C	c.1823C>G	p.S608C	Missense	4/11	-	1
19-55450366-A-G	c.1821T>C	p.C607=	Synonymous	4/11	-	1
19-55450368-A-G	c.1819T>C	p.C607R	Missense	4/11	-	1
19-55450369-A-T	c.1818T>A	p.H606Q	Missense	4/11	-	1
19-55450371-G-A	c.1816C>T	p.H606Y	Missense	4/11	-	1
19-55450372-C-A	c.1815G>T	p.M605I	Missense	4/11	-	1
19-55450372-C-G	c.1815G>C	p.M605I	Missense	4/11	-	1
19-55450372-C-T	c.1815G>A	p.M605I	Missense	4/11	-	1
19-55450375-C-T	c.1812G>A	p.V604=	Synonymous	4/11	-	2
19-55450376-A-G	c.1811T>C	p.V604A	Missense	4/11	-	1
19-55450378-T-C	c.1809A>G	p.E603=	Synonymous	4/11	-	1
19-55450382-G-A	c.1805C>T	p.S602F	Missense	4/11	-	4
19-55450382-GA-TT	c.1804_1805delinsAA	p.S602N	Missense	4/11	-	1
19-55450393-C-T	c.1794G>A	p.L598=	Synonymous	4/11	-	1
19-55450398-G-A	c.1789C>T	p.H597Y	Missense	4/11	-	3
19-55450403-G-A	c.1784C>T	p.S595F	Missense	4/11	-	2
19-55450403-GA-AG	c.1783_1784delinsCT	p.S595L	Missense	4/11	-	1
19-55450407-T-A	c.1780A>T	p.I594F	Missense	4/11	-	4
19-55450406-AT-A	c.1780del	p.I594Ffs*5	Frameshift	4/11	-	3
19-55450410-C-T	c.1777G>A	p.E593K	Missense	4/11	-	11
19-55450411-C-A	c.1776G>T	p.K592N	Missense	4/11	-	1
19-55450411-C-G	c.1776G>C	p.K592N	Missense	4/11	-	2
19-55450413-T-C	c.1774A>G	p.K592E	Missense	4/11	-	5
19-55450417-C-T	c.1770G>A	p.P590=	Synonymous	4/11	-	1
19-55450418-G-A	c.1769C>T	p.P590L	Missense	4/11	-	2
19-55450419-G-T	c.1768C>A	p.P590T	Missense	4/11	-	1
19-55450425-C-T	c.1762G>A	p.V588M	Missense	4/11	-	1
19-55450426-C-A	c.1761G>T	p.V587=	Synonymous	4/11	-	2
19-55450430-A-G	c.1757T>C	p.V586A	Missense	4/11	-	2
19-55450431-C-A	c.1756G>T	p.V586L	Missense	4/11	-	1
19-55450435-C-T	c.1752G>A	p.A584=	Synonymous	4/11	-	4
19-55450436-G-A	c.1751C>T	p.A584V	Missense	4/11	-	4
19-55450437-C-A	c.1750G>T	p.A584S	Missense	4/11	-	1
19-55450438-C-A	c.1749G>T	p.L583=	Synonymous	4/11	-	1
19-55450438-C-G	c.1749G>C	p.L583=	Synonymous	4/11	-	1
19-55450438-C-T	c.1749G>A	p.L583=	Synonymous	4/11	-	1
19-55450440-G-A	c.1747C>T	p.L583=	Synonymous	4/11	-	2
19-55450441-C-A	c.1746G>T	p.E582D	Missense	4/11	-	3
19-55450441-C-G	c.1746G>C	p.E582D	Missense	4/11	-	2
19-55450444-C-T	c.1743G>A	p.E581=	Synonymous	4/11	-	1
19-55450446-C-A	c.1741G>T	p.E581*	Nonsense	4/11	-	3
19-55450446-C-T	c.1741G>A	p.E581K	Missense	4/11	-	2
19-55450447-C-T	c.1740G>A	p.E580=	Synonymous	4/11	-	4
19-55450449-C-T	c.1738G>A	p.E580K	Missense	4/11	-	3
19-55450450-C-T	c.1737G>A	p.Q579=	Synonymous	4/11	-	4
19-55450456-C-G	c.1731G>C	p.E577D	Missense	4/11	-	1
19-55450457-T-C	c.1730A>G	p.E577G	Missense	4/11	-	2
19-55450462-C-A	c.1725G>T	p.L575=	Synonymous	4/11	-	5
19-55450465-G-A	c.1722C>T	p.C574=	Synonymous	4/11	-	1
19-55450469-C-T	c.1718G>A	p.G573D	Missense	4/11	-	2
19-55450471-C-A	c.1716G>T	p.L572F	Missense	4/11	-	1
19-55450479-C-A	c.1708G>T	p.E570*	Nonsense	4/11	-	1
19-55450479-C-T	c.1708G>A	p.E570K	Missense	4/11	-	2
19-55450480-C-T	c.1707G>A	p.K569=	Synonymous	4/11	-	1
19-55450484-A-T	c.1703T>A	p.L568Q	Missense	4/11	-	1
19-55450485-G-A	c.1702C>T	p.L568=	Synonymous	4/11	-	1
19-55450485-G-C	c.1702C>G	p.L568V	Missense	4/11	-	1
19-55450488-C-T	c.1699G>A	p.D567N	Missense	4/11	-	3
19-55450489-G-A	c.1698C>T	p.T566=	Synonymous	4/11	-	3
19-55450489-G-C	c.1698C>G	p.T566=	Synonymous	4/11	-	2
19-55450489-G-T	c.1698C>A	p.T566=	Synonymous	4/11	-	2
19-55450492-C-A	c.1695G>T	p.V565=	Synonymous	4/11	-	1
19-55450492-C-G	c.1695G>C	p.V565=	Synonymous	4/11	-	1
19-55450492-C-T	c.1695G>A	p.V565=	Synonymous	4/11	-	1
19-55450495-G-A	c.1692C>T	p.S564=	Synonymous	4/11	-	2
19-55450495-G-C	c.1692C>G	p.S564=	Synonymous	4/11	-	1
19-55450497-A-T	c.1690T>A	p.S564T	Missense	4/11	-	1
19-55450501-G-A	c.1686C>T	p.P562=	Synonymous	4/11	-	1
19-55450501-G-C	c.1686C>G	p.P562=	Synonymous	4/11	-	1
19-55450501-G-T	c.1686C>A	p.P562=	Synonymous	4/11	-	3
19-55450502-G-A	c.1685C>T	p.P562L	Missense	4/11	-	1
19-55450502-G-T	c.1685C>A	p.P562H	Missense	4/11	-	1
19-55450511-G-A	c.1676C>T	p.A559V	Missense	4/11	-	1
19-55450515-G-A	c.1672C>T	p.H558Y	Missense	4/11	-	1
19-55450518-G-A	c.1669C>T	p.L557F	Missense	4/11	-	1
19-55450523-G-A	c.1664C>T	p.A555V	Missense	4/11	-	1
19-55450527-T-G	c.1660A>C	p.K554Q	Missense	4/11	-	1
19-55450534-C-A	c.1653G>T	p.L551=	Synonymous	4/11	-	1
19-55450534-C-G	c.1653G>C	p.L551=	Synonymous	4/11	-	1
19-55450534-C-T	c.1653G>A	p.L551=	Synonymous	4/11	-	1
19-55450536-G-A	c.1651C>T	p.L551=	Synonymous	4/11	-	3
19-55450538-A-G	c.1649T>C	p.L550S	Missense	4/11	-	2
19-55450541-T-G	c.1646A>C	p.E549A	Missense	4/11	-	1
19-55450542-C-G	c.1645G>C	p.E549Q	Missense	4/11	-	1
19-55450542-C-T	c.1645G>A	p.E549K	Missense	4/11	-	7
19-55450553-T-A	c.1634A>T	p.D545V	Missense	4/11	-	1
19-55450554-C-T	c.1633G>A	p.D545N	Missense	4/11	-	2
19-55450556-G-A	c.1631C>T	p.P544L	Missense	4/11	-	1
19-55450557-G-A	c.1630C>T	p.P544S	Missense	4/11	-	3
19-55450560-A-T	c.1627T>A	p.S543T	Missense	4/11	-	1
19-55450562-A-G	c.1625T>C	p.M542T	Missense	4/11	-	1
19-55450565-C-A	c.1622G>T	p.R541L	Missense	4/11	-	1
19-55450565-C-T	c.1622G>A	p.R541Q	Missense	4/11	-	2
19-55450564-C-A	c.1623G>T	p.R541=	Synonymous	4/11	-	2
19-55450564-C-G	c.1623G>C	p.R541=	Synonymous	4/11	-	2
19-55450564-C-T	c.1623G>A	p.R541=	Synonymous	4/11	-	3
19-55450566-G-T	c.1621C>A	p.R541=	Synonymous	4/11	-	2
19-55450565-CG-C	c.1621del	p.R541Gfs*25	Frameshift	4/11	-	1
19-55450569-A-G	c.1618T>C	p.C540R	Missense	4/11	-	1
19-55450572-C-T	c.1615G>A	p.G539S	Missense	4/11	-	1
19-55450573-A-T	c.1614T>A	p.F538L	Missense	4/11	-	1
19-55450581-C-T	c.1606G>A	p.A536T	Missense	4/11	-	1
19-55450587-A-G	c.1600T>C	p.L534=	Synonymous	4/11	-	4
19-55450590-C-G	c.1597G>C	p.E533Q	Missense	4/11	-	1
19-55450590-C-T	c.1597G>A	p.E533K	Missense	4/11	-	1
19-55450592-T-C	c.1595A>G	p.K532R	Missense	4/11	-	2
19-55450593-T-G	c.1594A>C	p.K532Q	Missense	4/11	-	3
19-55450596-C-T	c.1591G>A	p.A531T	Missense	4/11	-	2
19-55450598-C-T	c.1589G>A	p.R530K	Missense	4/11	-	1
19-55450605-C-T	c.1582G>A	p.E528K	Missense	4/11	-	4
19-55450606-G-A	c.1581C>T	p.N527=	Synonymous	4/11	-	1
19-55450608-T-C	c.1579A>G	p.N527D	Missense	4/11	-	1
19-55450608-T-G	c.1579A>C	p.N527H	Missense	4/11	-	1
19-55450609-A-C	c.1578T>G	p.A526=	Synonymous	4/11	-	1
19-55450609-A-G	c.1578T>C	p.A526=	Synonymous	4/11	-	1
19-55450609-A-T	c.1578T>A	p.A526=	Synonymous	4/11	-	1
19-55450611-C-G	c.1576G>C	p.A526P	Missense	4/11	-	2
19-55450611-C-T	c.1576G>A	p.A526T	Missense	4/11	-	2
19-55450612-G-A	c.1575C>T	p.L525=	Synonymous	4/11	-	4
19-55450612-G-C	c.1575C>G	p.L525=	Synonymous	4/11	-	2
19-55450612-G-T	c.1575C>A	p.L525=	Synonymous	4/11	-	2
19-55450615-G-A	c.1572C>T	p.G524=	Synonymous	4/11	-	1
19-55450616-C-T	c.1571G>A	p.G524D	Missense	4/11	-	6
19-55450617-C-A	c.1570G>T	p.G524C	Missense	4/11	-	1
19-55450617-C-T	c.1570G>A	p.G524S	Missense	4/11	-	3
19-55450618-G-A	c.1569C>T	p.F523=	Synonymous	4/11	-	6
19-55450622-A-G	c.1565T>C	p.L522S	Missense	4/11	-	3
19-55450632-C-T	c.1555G>A	p.G519R	Missense	4/11	-	2
19-55450634-A-G	c.1553T>C	p.V518A	Missense	4/11	-	1
19-55450639-A-G	c.1548T>C	p.I516=	Synonymous	4/11	-	1
19-55450642-C-T	c.1545G>A	p.L515=	Synonymous	4/11	-	2
19-55450643-A-T	c.1544T>A	p.L515Q	Missense	4/11	-	2
19-55450644-G-A	c.1543C>T	p.L515=	Synonymous	4/11	-	1
19-55450645-G-C	c.1542C>G	p.D514E	Missense	4/11	-	1
19-55450647-C-T	c.1540G>A	p.D514N	Missense	4/11	-	4
19-55450648-G-A	c.1539C>T	p.P513=	Synonymous	4/11	-	2
19-55450650-G-T	c.1537C>A	p.P513T	Missense	4/11	-	1
19-55450654-C-G	c.1533G>C	p.K511N	Missense	4/11	-	1
19-55450655-T-C	c.1532A>G	p.K511R	Missense	4/11	-	9
19-55450661-C-T	c.1526G>A	p.R509K	Missense	4/11	-	1
19-55450664-T-A	c.1523A>T	p.E508V	Missense	4/11	-	1
19-55450664-T-C	c.1523A>G	p.E508G	Missense	4/11	-	1
19-55450665-C-A	c.1522G>T	p.E508*	Nonsense	4/11	-	1
19-55450665-C-T	c.1522G>A	p.E508K	Missense	4/11	-	3
19-55450666-T-A	c.1521A>T	p.E507D	Missense	4/11	-	1
19-55450666-T-G	c.1521A>C	p.E507D	Missense	4/11	-	2
19-55450667-T-A	c.1520A>T	p.E507V	Missense	4/11	-	6
19-55450668-C-T	c.1519G>A	p.E507K	Missense	4/11	-	2
19-55450669-TCC-GCT	c.1516_1518delinsAGC	p.G506S	Missense	4/11	-	1
19-55450671-C-A	c.1516G>T	p.G506*	Nonsense	4/11	-	1
19-55450671-C-T	c.1516G>A	p.G506R	Missense	4/11	-	1
19-55450672-G-A	c.1515C>T	p.S505=	Synonymous	4/11	-	3
19-55450672-G-C	c.1515C>G	p.S505=	Synonymous	4/11	-	3
19-55450672-G-T	c.1515C>A	p.S505=	Synonymous	4/11	-	3
19-55450673-G-A	c.1514C>T	p.S505F	Missense	4/11	-	2
19-55450673-G-C	c.1514C>G	p.S505C	Missense	4/11	-	3
19-55450673-G-T	c.1514C>A	p.S505Y	Missense	4/11	-	1
19-55450676-A-G	c.1511T>C	p.L504P	Missense	4/11	-	1
19-55450678-C-G	c.1509G>C	p.L503=	Synonymous	4/11	-	1
19-55450682-T-C	c.1505A>G	p.K502R	Missense	4/11	-	2
19-55450687-TAC-CAT	c.1498_1500delinsATG	p.V500M	Missense	4/11	-	1
19-55450687-T-C	c.1500A>G	p.V500=	Synonymous	4/11	-	1
19-55450689-C-T	c.1498G>A	p.V500I	Missense	4/11	-	6
19-55450690-G-C	c.1497C>G	p.D499E	Missense	4/11	-	1
19-55450692-C-T	c.1495G>A	p.D499N	Missense	4/11	-	1
19-55450694-C-T	c.1493G>A	p.G498E	Missense	4/11	-	2
19-55450696-G-A	c.1491C>T	p.I497=	Synonymous	4/11	-	4
19-55450696-G-T	c.1491C>A	p.I497=	Synonymous	4/11	-	4
19-55450698-T-C	c.1489A>G	p.I497V	Missense	4/11	-	1
19-55450698-T-G	c.1489A>C	p.I497L	Missense	4/11	-	1
19-55450699-G-A	c.1488C>T	p.D496=	Synonymous	4/11	-	1
19-55450701-C-T	c.1486G>A	p.D496N	Missense	4/11	-	1
19-55450703-C-T	c.1484G>A	p.W495*	Nonsense	4/11	-	2
19-55450707-C-A	c.1480G>T	p.A494S	Missense	4/11	-	2
19-55450707-C-T	c.1480G>A	p.A494T	Missense	4/11	-	3
19-55450708-G-A	c.1479C>T	p.H493=	Synonymous	4/11	-	4
19-55450710-G-A	c.1477C>T	p.H493Y	Missense	4/11	-	3
19-55450711-G-A	c.1476C>T	p.G492=	Synonymous	4/11	-	1
19-55450713-C-A	c.1474G>T	p.G492C	Missense	4/11	-	1
19-55450717-CCT-ACA	c.1468_1470delinsTGT	p.R490C	Missense	4/11	-	1
19-55450717-C-T	c.1470G>A	p.R490=	Synonymous	4/11	-	2
19-55450718-CT-AG	c.1468_1469inv	p.R490L	Missense	4/11	-	1
19-55450725-C-T	c.1462G>A	p.E488K	Missense	4/11	-	1
19-55450726-C-A	c.1461G>T	p.G487=	Synonymous	4/11	-	2
19-55450726-C-CT	c.1460_1461insA	p.E488Gfs*40	Frameshift	4/11	-	1
19-55450726-C-G	c.1461G>C	p.G487=	Synonymous	4/11	-	1
19-55450726-C-T	c.1461G>A	p.G487=	Synonymous	4/11	-	2
19-55450724-TCCC-T	c.1460_1462del	p.G487del	InFrameDeletion	4/11	-	1
19-55450727-C-T	c.1460G>A	p.G487E	Missense	4/11	-	16
19-55450727-C-CCT	c.1459_1460insAG	p.G487Efs*30	Frameshift	4/11	-	1
19-55450728-C-G	c.1459G>C	p.G487R	Missense	4/11	-	1
19-55450728-C-T	c.1459G>A	p.G487R	Missense	4/11	-	1
19-55450729-C-T	c.1458G>A	p.E486=	Synonymous	4/11	-	1
19-55450730-T-C	c.1457A>G	p.E486G	Missense	4/11	-	1
19-55450731-C-T	c.1456G>A	p.E486K	Missense	4/11	-	1
19-55450730-T-TC	c.1456dup	p.E486Gfs*42	Frameshift	4/11	-	1
19-55450732-C-A	c.1455G>T	p.E485D	Missense	4/11	-	3
19-55450732-C-G	c.1455G>C	p.E485D	Missense	4/11	-	3
19-55450734-C-T	c.1453G>A	p.E485K	Missense	4/11	-	4
19-55450735-C-T	c.1452G>A	p.K484=	Synonymous	4/11	-	1
19-55450736-T-C	c.1451A>G	p.K484R	Missense	4/11	-	2
19-55450740-C-A	c.1447G>T	p.E483*	Nonsense	4/11	-	2
19-55450741-C-T	c.1446G>A	p.L482=	Synonymous	4/11	-	3
19-55450745-G-C	c.1442C>G	p.A481G	Missense	4/11	-	2
19-55450746-C-A	c.1441G>T	p.A481S	Missense	4/11	-	1
19-55450746-C-T	c.1441G>A	p.A481T	Missense	4/11	-	13
19-55450747-G-T	c.1440C>A	p.Y480*	Nonsense	4/11	-	1
19-55450755-G-A	c.1432C>T	p.L478=	Synonymous	4/11	-	1
19-55450758-C-T	c.1429G>A	p.A477T	Missense	4/11	-	1
19-55450760-AG-A	c.1427del	p.T476Mfs*40	Frameshift	4/11	-	1
19-55450770-G-A	c.1417C>T	p.Q473*	Nonsense	4/11	-	1
19-55450774-G-A	c.1413C>T	p.F471=	Synonymous	4/11	-	1
19-55450782-G-T	c.1405C>A	p.L469I	Missense	4/11	-	1
19-55450785-G-A	c.1402C>T	p.H468Y	Missense	4/11	-	4
19-55450786-G-A	c.1401C>T	p.I467=	Synonymous	4/11	-	4
19-55450789-G-A	c.1398C>T	p.F466=	Synonymous	4/11	-	1
19-55450793-G-C	c.1394C>G	p.S465C	Missense	4/11	-	2
19-55450798-G-C	c.1389C>G	p.C463W	Missense	4/11	-	1
19-55450802-C-T	c.1385G>A	p.G462D	Missense	4/11	-	2
19-55450803-C-T	c.1384G>A	p.G462S	Missense	4/11	-	1
19-55450805-T-A	c.1382A>T	p.K461I	Missense	4/11	-	2
19-55450805-T-C	c.1382A>G	p.K461R	Missense	4/11	-	2
19-55450806-T-G	c.1381A>C	p.K461Q	Missense	4/11	-	1
19-55450811-ACT-A	c.1374_1375del	p.R458Sfs*69	Frameshift	4/11	-	1
19-55450816-G-A	c.1371C>T	p.D457=	Synonymous	4/11	-	2
19-55450817-T-G	c.1370A>C	p.D457A	Missense	4/11	-	1
19-55450818-C-A	c.1369G>T	p.D457Y	Missense	4/11	-	1
19-55450818-C-T	c.1369G>A	p.D457N	Missense	4/11	-	4
19-55450823-C-T	c.1364G>A	p.R455H	Missense	4/11	-	10
19-55450824-G-A	c.1363C>T	p.R455C	Missense	4/11	-	1
19-55450827-G-A	c.1360C>T	p.L454F	Missense	4/11	-	1
19-55450828-G-A	c.1359C>T	p.I453=	Synonymous	4/11	-	1
19-55450828-G-T	c.1359C>A	p.I453=	Synonymous	4/11	-	1
19-55450832-GT-G	c.1355del	p.D452Afs*64	Frameshift	4/11	-	1
19-55450833-C-A	c.1354G>T	p.D452Y	Missense	4/11	-	2
19-55450833-C-G	c.1354G>C	p.D452H	Missense	4/11	-	5
19-55450835-CC-TT	c.1351_1352delinsAA	p.G451K	Missense	4/11	-	1
19-55450835-C-T	c.1352G>A	p.G451E	Missense	4/11	-	4
19-55450836-C-T	c.1351G>A	p.G451R	Missense	4/11	-	8
19-55450837-G-A	c.1350C>T	p.D450=	Synonymous	4/11	-	1
19-55450843-G-A	c.1344C>T	p.F448=	Synonymous	4/11	-	2
19-55450843-G-C	c.1344C>G	p.F448L	Missense	4/11	-	1
19-55450843-G-T	c.1344C>A	p.F448L	Missense	4/11	-	1
19-55450845-A-G	c.1342T>C	p.F448L	Missense	4/11	-	1
19-55450846-C-A	c.1341G>T	p.L447=	Synonymous	4/11	-	1
19-55450847-A-G	c.1340T>C	p.L447P	Missense	4/11	-	2
19-55450848-G-A	c.1339C>T	p.L447=	Synonymous	4/11	-	1
19-55450850-C-T	c.1337G>A	p.R446H	Missense	4/11	-	3
19-55450851-G-A	c.1336C>T	p.R446C	Missense	4/11	-	4
19-55450851-G-T	c.1336C>A	p.R446S	Missense	4/11	-	1
19-55450854-G-C	c.1333C>G	p.L445V	Missense	4/11	-	1
19-55450854-G-T	c.1333C>A	p.L445I	Missense	4/11	-	1
19-55450855-G-T	c.1332C>A	p.D444E	Missense	4/11	-	1
19-55450856-T-C	c.1331A>G	p.D444G	Missense	4/11	-	1
19-55450857-C-G	c.1330G>C	p.D444H	Missense	4/11	-	1
19-55450857-C-T	c.1330G>A	p.D444N	Missense	4/11	-	2
19-55450858-G-A	c.1329C>T	p.S443=	Synonymous	4/11	-	4
19-55450859-G-T	c.1328C>A	p.S443Y	Missense	4/11	-	1
19-55450863-C-G	c.1324G>C	p.E442Q	Missense	4/11	-	1
19-55450865-T-C	c.1322A>G	p.Q441R	Missense	4/11	-	3
19-55450868-A-C	c.1319T>G	p.V440G	Missense	4/11	-	1
19-55450869-C-T	c.1318G>A	p.V440M	Missense	4/11	-	3
19-55450870-C-T	c.1317G>A	p.G439=	Synonymous	4/11	-	3
19-55450871-C-T	c.1316G>A	p.G439E	Missense	4/11	-	1
19-55450868-AC-A	c.1318del	p.V440Cfs*76	Frameshift	4/11	-	1
19-55450869-CCCCGAG-C	c.1312_1317del	p.L438_G439del	InFrameDeletion	4/11	-	1
19-55450872-C-A	c.1315G>T	p.G439W	Missense	4/11	-	3
19-55450873-G-A	c.1314C>T	p.L438=	Synonymous	4/11	-	1
19-55450876-C-G	c.1311G>C	p.R437S	Missense	4/11	-	1
19-55450877-C-A	c.1310G>T	p.R437M	Missense	4/11	-	1
19-55450877-C-T	c.1310G>A	p.R437K	Missense	4/11	-	1
19-55450880-T-C	c.1307A>G	p.E436G	Missense	4/11	-	2
19-55450883-A-T	c.1304T>A	p.L435Q	Missense	4/11	-	1
19-55450885-G-A	c.1302C>T	p.D434=	Synonymous	4/11	-	2
19-55450888-C-G	c.1299G>C	p.E433D	Missense	4/11	-	1
19-55450890-C-CA	c.1296_1297insT	p.E433*	Nonsense	4/11	-	1
19-55450892-C-A	c.1295G>T	p.R432L	Missense	4/11	-	2
19-55450892-C-G	c.1295G>C	p.R432P	Missense	4/11	-	1
19-55450892-C-T	c.1295G>A	p.R432Q	Missense	4/11	-	6
19-55450893-G-A	c.1294C>T	p.R432*	Nonsense	4/11	-	4
19-55450897-G-A	c.1290C>T	p.F430=	Synonymous	4/11	-	1
19-55450899-A-G	c.1288T>C	p.F430L	Missense	4/11	-	2
19-55450902-C-T	c.1285G>A	p.V429M	Missense	4/11	-	1
19-55450903-G-A	c.1284C>T	p.S428=	Synonymous	4/11	-	5
19-55450903-G-C	c.1284C>G	p.S428=	Synonymous	4/11	-	3
19-55450903-G-T	c.1284C>A	p.S428=	Synonymous	4/11	-	3
19-55450907-A-G	c.1280T>C	p.M427T	Missense	4/11	-	6
19-55450908-T-A	c.1279A>T	p.M427L	Missense	4/11	-	1
19-55450911-G-A	c.1276C>T	p.Q426*	Nonsense	4/11	-	2
19-55450911-G-C	c.1276C>G	p.Q426E	Missense	4/11	-	1
19-55450911-G-T	c.1276C>A	p.Q426K	Missense	4/11	-	1
19-55450912-C-A	c.1275G>T	p.A425=	Synonymous	4/11	-	1
19-55450912-C-G	c.1275G>C	p.A425=	Synonymous	4/11	-	1
19-55450912-C-T	c.1275G>A	p.A425=	Synonymous	4/11	-	2
19-55450913-G-A	c.1274C>T	p.A425V	Missense	4/11	-	8
19-55450920-G-A	c.1267C>T	p.L423=	Synonymous	4/11	-	2
19-55450922-C-T	c.1265G>A	p.G422D	Missense	4/11	-	5
19-55450923-C-A	c.1264G>T	p.G422C	Missense	4/11	-	1
19-55450923-C-T	c.1264G>A	p.G422S	Missense	4/11	-	1
19-55450924-C-A	c.1263G>T	p.Q421H	Missense	4/11	-	1
19-55450924-C-G	c.1263G>C	p.Q421H	Missense	4/11	-	1
19-55450924-C-T	c.1263G>A	p.Q421=	Synonymous	4/11	-	1
19-55450928-G-A	c.1259C>T	p.A420V	Missense	4/11	-	1
19-55450929-C-T	c.1258G>A	p.A420T	Missense	4/11	-	2
19-55450930-G-A	c.1257C>T	p.A419=	Synonymous	4/11	-	3
19-55450930-G-C	c.1257C>G	p.A419=	Synonymous	4/11	-	3
19-55450930-G-T	c.1257C>A	p.A419=	Synonymous	4/11	-	5
19-55450931-G-A	c.1256C>T	p.A419V	Missense	4/11	-	5
19-55450931-G-T	c.1256C>A	p.A419D	Missense	4/11	-	3
19-55450935-G-A	c.1252C>T	p.L418=	Synonymous	4/11	-	2
19-55450938-G-A	c.1249C>T	p.L417F	Missense	4/11	-	1
19-55450939-G-C	c.1248C>G	p.S416R	Missense	4/11	-	1
19-55450939-G-T	c.1248C>A	p.S416R	Missense	4/11	-	2
19-55450941-T-G	c.1246A>C	p.S416R	Missense	4/11	-	1
19-55450940-C-A	c.1247G>T	p.S416I	Missense	4/11	-	1
19-55450940-CT-AA	c.1246_1247delinsTT	p.S416F	Missense	4/11	-	1
19-55450942-C-G	c.1245G>C	p.L415=	Synonymous	4/11	-	1
19-55450945-C-A	c.1242G>T	p.T414=	Synonymous	4/11	-	2
19-55450945-C-G	c.1242G>C	p.T414=	Synonymous	4/11	-	2
19-55450945-C-T	c.1242G>A	p.T414=	Synonymous	4/11	-	3
19-55450946-G-A	c.1241C>T	p.T414M	Missense	4/11	-	1
19-55450948-CCG-GAT	c.1237_1239delinsATC	p.R413I	Missense	4/11	-	1
19-55450949-C-T	c.1238G>A	p.R413Q	Missense	4/11	-	4
19-55450950-G-A	c.1237C>T	p.R413W	Missense	4/11	-	2
19-55450952-A-G	c.1235T>C	p.L412P	Missense	4/11	-	1
19-55450955-G-A	c.1232C>T	p.A411V	Missense	4/11	-	4
19-55450955-G-C	c.1232C>G	p.A411G	Missense	4/11	-	1
19-55450956-C-T	c.1231G>A	p.A411T	Missense	4/11	-	1
19-55450952-AGC-A	c.1233_1234del	p.L412Afs*115	Frameshift	4/11	-	3
19-55450957-GC-CT	c.1229_1230delinsAG	p.G410E	Missense	4/11	-	1
19-55450959-C-A	c.1228G>T	p.G410C	Missense	4/11	-	1
19-55450961-C-A	c.1226G>T	p.R409L	Missense	4/11	-	1
19-55450961-CG-GT	c.1225_1226delinsAC	p.R409T	Missense	4/11	-	1
19-55450962-G-A	c.1225C>T	p.R409W	Missense	4/11	-	4
19-55450962-G-T	c.1225C>A	p.R409=	Synonymous	4/11	-	1
19-55450963-C-A	c.1224G>T	p.L408=	Synonymous	4/11	-	1
19-55450964-A-T	c.1223T>A	p.L408Q	Missense	4/11	-	1
19-55450965-G-A	c.1222C>T	p.L408=	Synonymous	4/11	-	1
19-55450966-C-G	c.1221G>C	p.Q407H	Missense	4/11	-	1
19-55450966-C-T	c.1221G>A	p.Q407=	Synonymous	4/11	-	2
19-55450967-T-G	c.1220A>C	p.Q407P	Missense	4/11	-	1
19-55450970-G-A	c.1217C>T	p.A406V	Missense	4/11	-	2
19-55450971-C-A	c.1216G>T	p.A406S	Missense	4/11	-	2
19-55450971-C-G	c.1216G>C	p.A406P	Missense	4/11	-	1
19-55450972-G-A	c.1215C>T	p.G405=	Synonymous	4/11	-	1
19-55450974-C-G	c.1213G>C	p.G405R	Missense	4/11	-	1
19-55450974-C-T	c.1213G>A	p.G405S	Missense	4/11	-	1
19-55450978-C-A	c.1209G>T	p.P403=	Synonymous	4/11	-	2
19-55450978-C-G	c.1209G>C	p.P403=	Synonymous	4/11	-	3
19-55450978-C-T	c.1209G>A	p.P403=	Synonymous	4/11	-	2
19-55450979-G-A	c.1208C>T	p.P403L	Missense	4/11	-	2
19-55450980-G-A	c.1207C>T	p.P403S	Missense	4/11	-	1
19-55450980-G-T	c.1207C>A	p.P403T	Missense	4/11	-	3
19-55450985-C-T	c.1202G>A	p.R401Q	Missense	4/11	-	1
19-55450986-G-A	c.1201C>T	p.R401W	Missense	4/11	-	1
19-55450989-T-A	c.1198A>T	p.S400C	Missense	4/11	-	1
19-55450991-C-T	c.1196G>A	p.C399Y	Missense	4/11	-	5
19-55450992-A-G	c.1195T>C	p.C399R	Missense	4/11	-	1
19-55450993-G-T	c.1194C>A	p.L398=	Synonymous	4/11	-	1
19-55450994-A-C	c.1193T>G	p.L398R	Missense	4/11	-	5
19-55450994-A-G	c.1193T>C	p.L398P	Missense	4/11	-	1
19-55450996-G-A	c.1191C>T	p.F397=	Synonymous	4/11	-	4
19-55451000-C-A	c.1187G>T	p.R396L	Missense	4/11	-	2
19-55451000-C-T	c.1187G>A	p.R396H	Missense	4/11	-	4
19-55451001-G-A	c.1186C>T	p.R396C	Missense	4/11	-	6
19-55451001-G-C	c.1186C>G	p.R396G	Missense	4/11	-	1
19-55451005-G-A	c.1182C>T	p.F394=	Synonymous	4/11	-	5
19-55451005-G-T	c.1182C>A	p.F394L	Missense	4/11	-	2
19-55451012-C-T	c.1175G>A	p.G392E	Missense	4/11	-	1
19-55451016-T-C	c.1171A>G	p.T391A	Missense	4/11	-	2
19-55451018-C-T	c.1169G>A	p.R390H	Missense	4/11	-	2
19-55451019-G-A	c.1168C>T	p.R390C	Missense	4/11	-	1
19-55451021-G-A	c.1166C>T	p.T389I	Missense	4/11	-	1
19-55451033-G-A	c.1154C>T	p.P385L	Missense	4/11	-	5
19-55451034-G-A	c.1153C>T	p.P385S	Missense	4/11	-	6
19-55451038-C-A	c.1149G>T	p.P383=	Synonymous	4/11	-	2
19-55451038-C-T	c.1149G>A	p.P383=	Synonymous	4/11	-	2
19-55451040-G-T	c.1147C>A	p.P383T	Missense	4/11	-	1
19-55451038-CG-C	c.1148del	p.P383Rfs*33	Frameshift	4/11	-	1
19-55451046-C-T	c.1141G>A	p.E381K	Missense	4/11	-	3
19-55451047-C-A	c.1140G>T	p.G380=	Synonymous	4/11	-	1
19-55451047-C-G	c.1140G>C	p.G380=	Synonymous	4/11	-	1
19-55451047-C-T	c.1140G>A	p.G380=	Synonymous	4/11	-	4
19-55451048-C-CA	c.1138_1139insT	p.G380Vfs*148	Frameshift	4/11	-	1
19-55451048-C-T	c.1139G>A	p.G380E	Missense	4/11	-	2
19-55451049-C-G	c.1138G>C	p.G380R	Missense	4/11	-	4
19-55451049-C-T	c.1138G>A	p.G380R	Missense	4/11	-	4
19-55451045-TC-T	c.1141del	p.E381Rfs*35	Frameshift	4/11	-	3
19-55451050-C-A	c.1137G>T	p.K379N	Missense	4/11	-	2
19-55451050-C-G	c.1137G>C	p.K379N	Missense	4/11	-	10
19-55451050-C-T	c.1137G>A	p.K379=	Synonymous	4/11	-	16
19-55451051-T-C	c.1136A>G	p.K379R	Missense	4/11	-	2
19-55451056-C-A	c.1131G>T	p.M377I	Missense	4/11	-	1
19-55451063-A-G	c.1124T>C	p.L375P	Missense	4/11	-	1
19-55451065-C-T	c.1122G>A	p.K374=	Synonymous	4/11	-	2
19-55451066-T-C	c.1121A>G	p.K374R	Missense	4/11	-	3
19-55451068-C-T	c.1119G>A	p.L373=	Synonymous	4/11	-	1
19-55451073-T-C	c.1114A>G	p.T372A	Missense	4/11	-	1
19-55451078-C-G	c.1109G>C	p.C370S	Missense	4/11	-	2
19-55451080-C-A	c.1107G>T	p.V369=	Synonymous	4/11	-	1
19-55451080-C-G	c.1107G>C	p.V369=	Synonymous	4/11	-	1
19-55451080-C-T	c.1107G>A	p.V369=	Synonymous	4/11	-	1
19-55451081-A-T	c.1106T>A	p.V369E	Missense	4/11	-	1
19-55451082-C-T	c.1105G>A	p.V369M	Missense	4/11	-	1
19-55451083-A-C	c.1104T>G	p.I368M	Missense	4/11	-	6
19-55451083-A-G	c.1104T>C	p.I368=	Synonymous	4/11	-	2
19-55451085-T-C	c.1102A>G	p.I368V	Missense	4/11	-	1
19-55451086-C-T	c.1101G>A	p.W367*	Nonsense	4/11	-	7
19-55451087-C-T	c.1100G>A	p.W367*	Nonsense	4/11	-	3
19-55451090-C-T	c.1097G>A	p.C366Y	Missense	4/11	-	1
19-55451093-A-G	c.1094T>C	p.V365A	Missense	4/11	-	1
19-55451094-C-T	c.1093G>A	p.V365M	Missense	4/11	-	2
19-55451096-G-A	c.1091C>T	p.A364V	Missense	4/11	-	4
19-55451097-C-T	c.1090G>A	p.A364T	Missense	4/11	-	2
19-55451098-G-A	c.1089C>T	p.P363=	Synonymous	4/11	-	3
19-55451101-G-T	c.1086C>A	p.A362=	Synonymous	4/11	-	1
19-55451102-G-A	c.1085C>T	p.A362V	Missense	4/11	-	1
19-55451103-C-T	c.1084G>A	p.A362T	Missense	4/11	-	1
19-55451104-C-G	c.1083G>C	p.S361=	Synonymous	4/11	-	1
19-55451104-C-T	c.1083G>A	p.S361=	Synonymous	4/11	-	1
19-55451105-G-A	c.1082C>T	p.S361L	Missense	4/11	-	7
19-55451111-A-G	c.1076T>C	p.L359P	Missense	4/11	-	1
19-55451111-CA-C	c.1076del	p.L359Rfs*15	Frameshift	4/11	-	1
19-55451113-C-A	c.1074G>T	p.Q358H	Missense	4/11	-	1
19-55451115-G-A	c.1072C>T	p.Q358*	Nonsense	4/11	-	1
19-55451116-G-A	c.1071C>T	p.F357=	Synonymous	4/11	-	1
19-55451116-G-T	c.1071C>A	p.F357L	Missense	4/11	-	1
19-55451121-G-A	c.1066C>T	p.L356=	Synonymous	4/11	-	1
19-55451124-C-T	c.1063G>A	p.A355T	Missense	4/11	-	2
19-55451127-C-A	c.1060G>T	p.A354S	Missense	4/11	-	1
19-55451127-C-T	c.1060G>A	p.A354T	Missense	4/11	-	4
19-55451128-G-A	c.1059C>T	p.N353=	Synonymous	4/11	-	2
19-55451130-T-G	c.1057A>C	p.N353H	Missense	4/11	-	1
19-55451134-C-A	c.1053G>T	p.R351S	Missense	4/11	-	1
19-55451134-C-G	c.1053G>C	p.R351S	Missense	4/11	-	1
19-55451134-C-T	c.1053G>A	p.R351=	Synonymous	4/11	-	2
19-55451135-C-G	c.1052G>C	p.R351T	Missense	4/11	-	1
19-55451136-T-C	c.1051A>G	p.R351G	Missense	4/11	-	1
19-55451137-C-T	c.1050G>A	p.M350I	Missense	4/11	-	1
19-55451140-T-C	c.1047A>G	p.L349=	Synonymous	4/11	-	1
19-55451145-C-T	c.1042G>A	p.E348K	Missense	4/11	-	4
19-55451150-G-T	c.1037C>A	p.A346D	Missense	4/11	-	1
19-55451153-C-T	c.1034G>A	p.R345H	Missense	4/11	-	3
19-55451156-A-G	c.1031T>C	p.M344T	Missense	4/11	-	1
19-55451158-G-A	c.1029C>T	p.A343=	Synonymous	4/11	-	2
19-55451163-G-A	c.1024C>T	p.Q342*	Nonsense	4/11	-	2
19-55451164-G-A	c.1023C>T	p.D341=	Synonymous	4/11	-	3
19-55451164-G-C	c.1023C>G	p.D341E	Missense	4/11	-	1
19-55451169-C-CTG	c.1017_1018insCA	p.E340Qfs*11	Frameshift	4/11	-	1
19-55451169-C-T	c.1018G>A	p.E340K	Missense	4/11	-	2
19-55451171-T-C	c.1016A>G	p.D339G	Missense	4/11	-	1
19-55451178-A-G	c.1009T>C	p.F337L	Missense	4/11	-	1
19-55451179-G-C	c.1008C>G	p.H336Q	Missense	4/11	-	2
19-55451179-G-T	c.1008C>A	p.H336Q	Missense	4/11	-	2
19-55451182-T-A	c.1005A>T	p.R335S	Missense	4/11	-	1
19-55451182-T-C	c.1005A>G	p.R335=	Synonymous	4/11	-	1
19-55451182-T-G	c.1005A>C	p.R335S	Missense	4/11	-	1
19-55451184-T-G	c.1003A>C	p.R335=	Synonymous	4/11	-	1
19-55451184-T-C	c.1003A>G	p.R335G	Missense	4/11	-	2
19-55451186-A-G	c.1001T>C	p.L334P	Missense	4/11	-	3
19-55451187-G-C	c.1000C>G	p.L334V	Missense	4/11	-	1
19-55451186-AG-A	c.1000del	p.L334*	Frameshift	4/11	-	1
19-55451188-G-A	c.999C>T	p.F333=	Synonymous	4/11	-	6
19-55451188-G-T	c.999C>A	p.F333L	Missense	4/11	-	1
19-55451190-A-T	c.997T>A	p.F333I	Missense	4/11	-	1
19-55451196-C-A	c.991G>T	p.A331S	Missense	4/11	-	1
19-55451199-T-A	c.988A>T	p.R330W	Missense	4/11	-	2
19-55451201-C-T	c.986G>A	p.R329K	Missense	4/11	-	1
19-55451201-CT-AG	c.985_986inv	p.R329L	Missense	4/11	-	1
19-55451202-T-A	c.985A>T	p.R329W	Missense	4/11	-	1
19-55451205-C-G	c.982G>C	p.D328H	Missense	4/11	-	1
19-55451205-C-T	c.982G>A	p.D328N	Missense	4/11	-	1
19-55451207-T-G	c.980A>C	p.E327A	Missense	4/11	-	1
19-55451208-C-A	c.979G>T	p.E327*	Nonsense	4/11	-	1
19-55451208-C-G	c.979G>C	p.E327Q	Missense	4/11	-	1
19-55451208-C-T	c.979G>A	p.E327K	Missense	4/11	-	5
19-55451209-C-A	c.978G>T	p.E326D	Missense	4/11	-	1
19-55451209-C-G	c.978G>C	p.E326D	Missense	4/11	-	1
19-55451211-C-T	c.976G>A	p.E326K	Missense	4/11	-	2
19-55451215-G-A	c.972C>T	p.F324=	Synonymous	4/11	-	2
19-55451220-C-T	c.967G>A	p.G323S	Missense	4/11	-	1
19-55451223-C-T	c.964G>A	p.E322K	Missense	4/11	-	3
19-55451227-C-T	c.960G>A	p.R320=	Synonymous	4/11	-	1
19-55451232-C-A	c.955G>T	p.V319L	Missense	4/11	-	4
19-55451232-C-G	c.955G>C	p.V319L	Missense	4/11	-	4
19-55451232-C-T	c.955G>A	p.V319I	Missense	4/11	-	25
19-55451233-CGT-C	c.953_954del	p.Y318Cfs*30	Frameshift	4/11	-	1
19-55451233-G-A	c.954C>T	p.Y318=	Synonymous	4/11	-	3
19-55451234-T-C	c.953A>G	p.Y318C	Missense	4/11	-	1
19-55451236-G-A	c.951C>T	p.I317=	Synonymous	4/11	-	1
19-55451236-G-T	c.951C>A	p.I317=	Synonymous	4/11	-	2
19-55451237-A-T	c.950T>A	p.I317N	Missense	4/11	-	1
19-55451240-G-A	c.947C>T	p.P316L	Missense	4/11	-	3
19-55451240-G-C	c.947C>G	p.P316R	Missense	4/11	-	1
19-55451241-G-T	c.946C>A	p.P316T	Missense	4/11	-	1
19-55451242-C-A	c.945G>T	p.Q315H	Missense	4/11	-	1
19-55451245-C-T	c.942G>A	p.Q314=	Synonymous	4/11	-	1
19-55451248-C-A	c.939G>T	p.A313=	Synonymous	4/11	-	1
19-55451248-C-G	c.939G>C	p.A313=	Synonymous	4/11	-	1
19-55451248-C-T	c.939G>A	p.A313=	Synonymous	4/11	-	1
19-55451249-G-A	c.938C>T	p.A313V	Missense	4/11	-	4
19-55451249-G-T	c.938C>A	p.A313E	Missense	4/11	-	1
19-55451253-G-A	c.934C>T	p.L312=	Synonymous	4/11	-	4
19-55451253-G-T	c.934C>A	p.L312M	Missense	4/11	-	1
19-55451254-G-A	c.933C>T	p.L311=	Synonymous	4/11	-	3
19-55451254-G-C	c.933C>G	p.L311=	Synonymous	4/11	-	1
19-55451254-G-T	c.933C>A	p.L311=	Synonymous	4/11	-	1
19-55451256-G-A	c.931C>T	p.L311F	Missense	4/11	-	1
19-55451256-G-C	c.931C>G	p.L311V	Missense	4/11	-	2
19-55451256-G-T	c.931C>A	p.L311I	Missense	4/11	-	7
19-55451257-C-A	c.930G>T	p.Q310H	Missense	4/11	-	8
19-55451257-C-G	c.930G>C	p.Q310H	Missense	4/11	-	3
19-55451257-GC-G	c.930del	p.Q310Hfs*10	Frameshift	4/11	-	1
19-55451258-T-C	c.929A>G	p.Q310R	Missense	4/11	-	7
19-55451258-T-G	c.929A>C	p.Q310P	Missense	4/11	-	1
19-55451259-G-A	c.928C>T	p.Q310*	Nonsense	4/11	-	2
19-55451259-G-T	c.928C>A	p.Q310K	Missense	4/11	-	3
19-55451260-G-A	c.927C>T	p.L309=	Synonymous	4/11	-	1
19-55451265-C-T	c.922G>A	p.D308N	Missense	4/11	-	8
19-55451267-C-T	c.920G>A	p.R307K	Missense	4/11	-	1
19-55451268-T-C	c.919A>G	p.R307G	Missense	4/11	-	2
19-55451270-A-G	c.917T>C	p.L306P	Missense	4/11	-	3
19-55451276-C-T	c.911G>A	p.R304K	Missense	4/11	-	1
19-55451278-G-A	c.909C>T	p.P303=	Synonymous	4/11	-	1
19-55451278-G-C	c.909C>G	p.P303=	Synonymous	4/11	-	1
19-55451278-G-T	c.909C>A	p.P303=	Synonymous	4/11	-	1
19-55451282-C-A	c.905G>T	p.R302L	Missense	4/11	-	1
19-55451282-C-T	c.905G>A	p.R302Q	Missense	4/11	-	3
19-55451281-C-A	c.906G>T	p.R302=	Synonymous	4/11	-	3
19-55451281-C-G	c.906G>C	p.R302=	Synonymous	4/11	-	2
19-55451281-C-T	c.906G>A	p.R302=	Synonymous	4/11	-	5
19-55451283-G-A	c.904C>T	p.R302W	Missense	4/11	-	2
19-55451283-G-C	c.904C>G	p.R302G	Missense	4/11	-	1
19-55451283-G-T	c.904C>A	p.R302=	Synonymous	4/11	-	2
19-55451284-C-A	c.903G>T	p.T301=	Synonymous	4/11	-	3
19-55451284-C-G	c.903G>C	p.T301=	Synonymous	4/11	-	3
19-55451284-C-T	c.903G>A	p.T301=	Synonymous	4/11	-	4
19-55451285-G-A	c.902C>T	p.T301M	Missense	4/11	-	1
19-55451295-G-A	c.892C>T	p.L298=	Synonymous	4/11	-	1
19-55451296-C-T	c.891G>A	p.L297=	Synonymous	4/11	-	2
19-55451298-A-G	c.889T>C	p.L297=	Synonymous	4/11	-	2
19-55451301-C-T	c.886G>A	p.A296T	Missense	4/11	-	1
19-55451303-G-T	c.884C>A	p.A295E	Missense	4/11	-	1
19-55451305-C-T	c.882G>A	p.R294=	Synonymous	4/11	-	2
19-55451306-C-G	c.881G>C	p.R294T	Missense	4/11	-	3
19-55451314-C-A	c.873G>T	p.M291I	Missense	4/11	-	1
19-55451314-C-G	c.873G>C	p.M291I	Missense	4/11	-	1
19-55451314-C-T	c.873G>A	p.M291I	Missense	4/11	-	1
19-55451315-A-C	c.872T>G	p.M291R	Missense	4/11	-	2
19-55451318-T-C	c.869A>G	p.K290R	Missense	4/11	-	1
19-55451318-T-G	c.869A>C	p.K290T	Missense	4/11	-	2
19-55451320-C-T	c.867G>A	p.R289=	Synonymous	4/11	-	4
19-55451321-C-T	c.866G>A	p.R289K	Missense	4/11	-	1
19-55451324-T-C	c.863A>G	p.K288R	Missense	4/11	-	1
19-55451326-C-T	c.861G>A	p.L287=	Synonymous	4/11	-	2
19-55451328-G-C	c.859C>G	p.L287V	Missense	4/11	-	1
19-55451328-G-T	c.859C>A	p.L287M	Missense	4/11	-	1
19-55451335-C-T	c.852G>A	p.G284=	Synonymous	4/11	-	4
19-55451338-C-A	c.849G>T	p.L283=	Synonymous	4/11	-	1
19-55451338-C-G	c.849G>C	p.L283=	Synonymous	4/11	-	1
19-55451338-C-T	c.849G>A	p.L283=	Synonymous	4/11	-	1
19-55451340-G-A	c.847C>T	p.L283=	Synonymous	4/11	-	1
19-55451339-A-G	c.848T>C	p.L283P	Missense	4/11	-	1
19-55451341-G-A	c.846C>T	p.L282=	Synonymous	4/11	-	5
19-55451341-G-T	c.846C>A	p.L282=	Synonymous	4/11	-	2
19-55451344-G-A	c.843C>T	p.V281=	Synonymous	4/11	-	2
19-55451346-C-G	c.841G>C	p.V281L	Missense	4/11	-	1
19-55451346-C-T	c.841G>A	p.V281I	Missense	4/11	-	2
19-55451347-G-A	c.840C>T	p.P280=	Synonymous	4/11	-	3
19-55451352-C-A	c.835G>T	p.V279L	Missense	4/11	-	1
19-55451352-C-T	c.835G>A	p.V279M	Missense	4/11	-	2
19-55451353-C-A	c.834G>T	p.P278=	Synonymous	4/11	-	1
19-55451353-C-G	c.834G>C	p.P278=	Synonymous	4/11	-	1
19-55451353-C-T	c.834G>A	p.P278=	Synonymous	4/11	-	2
19-55451355-G-A	c.832C>T	p.P278S	Missense	4/11	-	1
19-55451360-T-C	c.827A>G	p.K276R	Missense	4/11	-	1
19-55451362-C-A	c.825G>T	p.K275N	Missense	4/11	-	2
19-55451362-C-G	c.825G>C	p.K275N	Missense	4/11	-	2
19-55451362-C-T	c.825G>A	p.K275=	Synonymous	4/11	-	2
19-55451364-T-C	c.823A>G	p.K275E	Missense	4/11	-	2
19-55451364-T-G	c.823A>C	p.K275Q	Missense	4/11	-	1
19-55451367-C-A	c.820G>T	p.E274*	Nonsense	4/11	-	1
19-55451367-C-T	c.820G>A	p.E274K	Missense	4/11	-	1
19-55451369-C-A	c.818G>T	p.W273L	Missense	4/11	-	2
19-55451369-C-G	c.818G>C	p.W273S	Missense	4/11	-	1
19-55451370-A-G	c.817T>C	p.W273R	Missense	4/11	-	1
19-55451370-A-T	c.817T>A	p.W273R	Missense	4/11	-	1
19-55451371-G-A	c.816C>T	p.D272=	Synonymous	4/11	-	1
19-55451373-C-A	c.814G>T	p.D272Y	Missense	4/11	-	1
19-55451374-C-A	c.813G>T	p.G271=	Synonymous	4/11	-	1
19-55451374-C-G	c.813G>C	p.G271=	Synonymous	4/11	-	1
19-55451374-C-T	c.813G>A	p.G271=	Synonymous	4/11	-	5
19-55451372-TC-T	c.814del	p.D272Tfs*16	Frameshift	4/11	-	1
19-55451376-C-A	c.811G>T	p.G271W	Missense	4/11	-	1
19-55451376-C-G	c.811G>C	p.G271R	Missense	4/11	-	2
19-55451376-C-T	c.811G>A	p.G271R	Missense	4/11	-	3
19-55451377-G-A	c.810C>T	p.C270=	Synonymous	4/11	-	4
19-55451377-G-T	c.810C>A	p.C270*	Nonsense	4/11	-	3
19-55451378-C-T	c.809G>A	p.C270Y	Missense	4/11	-	1
19-55451380-G-A	c.807C>T	p.I269=	Synonymous	4/11	-	1
19-55451380-G-C	c.807C>G	p.I269M	Missense	4/11	-	1
19-55451380-G-T	c.807C>A	p.I269=	Synonymous	4/11	-	1
19-55451385-C-T	c.802G>A	p.D268N	Missense	4/11	-	3
19-55451386-C-A	c.801G>T	p.Q267H	Missense	4/11	-	1
19-55451386-C-G	c.801G>C	p.Q267H	Missense	4/11	-	1
19-55451394-G-T	c.793C>A	p.L265M	Missense	4/11	-	1
19-55451395-C-T	c.792G>A	p.A264=	Synonymous	4/11	-	1
19-55451396-G-A	c.791C>T	p.A264V	Missense	4/11	-	3
19-55451396-G-T	c.791C>A	p.A264E	Missense	4/11	-	2
19-55451397-C-T	c.790G>A	p.A264T	Missense	4/11	-	1
19-55451398-C-T	c.789G>A	p.G263=	Synonymous	4/11	-	1
19-55451400-C-T	c.787G>A	p.G263R	Missense	4/11	-	1
19-55451403-G-A	c.784C>T	p.P262S	Missense	4/11	-	2
19-55451405-G-A	c.782C>T	p.P261L	Missense	4/11	-	2
19-55451406-G-A	c.781C>T	p.P261S	Missense	4/11	-	1
19-55451407-G-A	c.780C>T	p.V260=	Synonymous	4/11	-	1
19-55451413-C-G	c.774G>C	p.L258=	Synonymous	4/11	-	1
19-55451413-C-T	c.774G>A	p.L258=	Synonymous	4/11	-	4
19-55451416-C-T	c.771G>A	p.E257=	Synonymous	4/11	-	1
19-55451418-C-A	c.769G>T	p.E257*	Nonsense	4/11	-	1
19-55451418-C-T	c.769G>A	p.E257K	Missense	4/11	-	1
19-55451420-T-A	c.767A>T	p.D256V	Missense	4/11	-	1
19-55451425-G-T	c.762C>A	p.G254=	Synonymous	4/11	-	2
19-55451427-C-A	c.760G>T	p.G254C	Missense	4/11	-	1
19-55451427-C-T	c.760G>A	p.G254S	Missense	4/11	-	2
19-55451430-C-T	c.757G>A	p.D253N	Missense	4/11	-	2
19-55451437-G-A	c.750C>T	p.F250=	Synonymous	4/11	-	7
19-55451438-A-C	c.749T>G	p.F250C	Missense	4/11	-	7
19-55451437-G-C	c.750C>G	p.F250L	Missense	4/11	-	1
19-55451437-G-T	c.750C>A	p.F250L	Missense	4/11	-	2
19-55451439-A-G	c.748T>C	p.F250L	Missense	4/11	-	1
19-55451443-G-A	c.744C>T	p.I248=	Synonymous	4/11	-	1
19-55451443-G-T	c.744C>A	p.I248=	Synonymous	4/11	-	1
19-55451444-A-G	c.743T>C	p.I248T	Missense	4/11	-	1
19-55451445-T-G	c.742A>C	p.I248L	Missense	4/11	-	1
19-55451447-C-A	c.740G>T	p.R247I	Missense	4/11	-	4
19-55451449-C-T	c.738G>A	p.Q246=	Synonymous	4/11	-	2
19-55451451-G-T	c.736C>A	p.Q246K	Missense	4/11	-	5
19-55451453-G-A	c.734C>T	p.A245V	Missense	4/11	-	1
19-55451455-T-A	c.732A>T	p.Q244H	Missense	4/11	-	1
19-55451455-T-G	c.732A>C	p.Q244H	Missense	4/11	-	1
19-55451458-G-A	c.729C>T	p.A243=	Synonymous	4/11	-	3
19-55451458-G-C	c.729C>G	p.A243=	Synonymous	4/11	-	3
19-55451458-G-T	c.729C>A	p.A243=	Synonymous	4/11	-	4
19-55451460-C-G	c.727G>C	p.A243P	Missense	4/11	-	1
19-55451463-G-A	c.724C>T	p.L242=	Synonymous	4/11	-	3
19-55451464-G-A	c.723C>T	p.I241=	Synonymous	4/11	-	2
19-55451464-G-T	c.723C>A	p.I241=	Synonymous	4/11	-	1
19-55451466-T-A	c.721A>T	p.I241F	Missense	4/11	-	1
19-55451468-C-T	c.719G>A	p.S240N	Missense	4/11	-	2
19-55451471-G-T	c.716C>A	p.P239Q	Missense	4/11	-	1
19-55451472-G-A	c.715C>T	p.P239S	Missense	4/11	-	2
19-55451478-C-T	c.709G>A	p.D237N	Missense	4/11	-	3
19-55451483-T-C	c.704A>G	p.Q235R	Missense	4/11	-	1
19-55451484-G-T	c.703C>A	p.Q235K	Missense	4/11	-	1
19-55451488-T-A	c.699A>T	p.E233D	Missense	4/11	-	1
19-55451488-T-C	c.699A>G	p.E233=	Synonymous	4/11	-	1
19-55451490-C-G	c.697G>C	p.E233Q	Missense	4/11	-	1
19-55451490-C-T	c.697G>A	p.E233K	Missense	4/11	-	5
19-55451491-A-C	c.696T>G	p.P232=	Synonymous	4/11	-	1
19-55451491-A-G	c.696T>C	p.P232=	Synonymous	4/11	-	1
19-55451491-A-T	c.696T>A	p.P232=	Synonymous	4/11	-	1
19-55451494-C-A	c.693G>T	p.W231C	Missense	4/11	-	2
19-55451494-C-G	c.693G>C	p.W231C	Missense	4/11	-	3
19-55451494-C-T	c.693G>A	p.W231*	Nonsense	4/11	-	5
19-55451495-C-A	c.692G>T	p.W231L	Missense	4/11	-	1
19-55451495-C-T	c.692G>A	p.W231*	Nonsense	4/11	-	4
19-55451499-C-A	c.688G>T	p.D230Y	Missense	4/11	-	2
19-55451501-T-A	c.686A>T	p.K229I	Missense	4/11	-	1
19-55451502-T-C	c.685A>G	p.K229E	Missense	4/11	-	1
19-55451504-GA-AG	c.682_683delinsCT	p.S228L	Missense	4/11	-	1
19-55451506-G-A	c.681C>T	p.I227=	Synonymous	4/11	-	1
19-55451506-G-T	c.681C>A	p.I227=	Synonymous	4/11	-	1
19-55451509-C-A	c.678G>T	p.L226=	Synonymous	4/11	-	2
19-55451509-CAG-AAA	c.676_678delinsTTT	p.L226F	Missense	4/11	-	1
19-55451509-C-G	c.678G>C	p.L226=	Synonymous	4/11	-	2
19-55451509-C-T	c.678G>A	p.L226=	Synonymous	4/11	-	5
19-55451511-G-A	c.676C>T	p.L226=	Synonymous	4/11	-	2
19-55451510-A-G	c.677T>C	p.L226P	Missense	4/11	-	2
19-55451514-C-T	c.673G>A	p.E225K	Missense	4/11	-	2
19-55451516-G-A	c.671C>T	p.A224V	Missense	4/11	-	2
19-55451518-A-G	c.669T>C	p.F223=	Synonymous	4/11	-	1
19-55451520-A-G	c.667T>C	p.F223L	Missense	4/11	-	1
19-55451522-C-T	c.665G>A	p.S222N	Missense	4/11	-	1
19-55451528-G-A	c.659C>T	p.P220L	Missense	4/11	-	3
19-55451528-G-T	c.659C>A	p.P220H	Missense	4/11	-	3
19-55451532-C-A	c.655G>T	p.G219C	Missense	4/11	-	1
19-55451532-C-T	c.655G>A	p.G219S	Missense	4/11	-	1
19-55451534-A-G	c.653T>C	p.M218T	Missense	4/11	-	1
19-55451535-T-A	c.652A>T	p.M218L	Missense	4/11	-	1
19-55451535-T-G	c.652A>C	p.M218L	Missense	4/11	-	2
19-55451536-G-A	c.651C>T	p.R217=	Synonymous	4/11	-	1
19-55451536-G-C	c.651C>G	p.R217=	Synonymous	4/11	-	2
19-55451536-G-T	c.651C>A	p.R217=	Synonymous	4/11	-	1
19-55451537-C-A	c.650G>T	p.R217L	Missense	4/11	-	2
19-55451540-C-A	c.647G>T	p.S216I	Missense	4/11	-	1
19-55451540-C-G	c.647G>C	p.S216T	Missense	4/11	-	2
19-55451541-T-A	c.646A>T	p.S216C	Missense	4/11	-	2
19-55451544-G-A	c.643C>T	p.L215F	Missense	4/11	-	2
19-55451547-C-T	c.640G>A	p.E214K	Missense	4/11	-	1
19-55451546-TC-T	c.640del	p.E214Sfs*13	Frameshift	4/11	-	1
19-55451552-C-A	c.635G>T	p.C212F	Missense	4/11	-	2
19-55451553-A-G	c.634T>C	p.C212R	Missense	4/11	-	1
19-55451555-C-T	c.632G>A	p.S211N	Missense	4/11	-	1
19-55451557-G-A	c.630C>T	p.L210=	Synonymous	4/11	-	2
19-55451557-G-C	c.630C>G	p.L210=	Synonymous	4/11	-	2
19-55451557-G-T	c.630C>A	p.L210=	Synonymous	4/11	-	2
19-55451561-T-C	c.626A>G	p.Y209C	Missense	4/11	-	1
19-55451562-A-G	c.625T>C	p.Y209H	Missense	4/11	-	1
19-55451563-G-A	c.624C>T	p.F208=	Synonymous	4/11	-	2
19-55451564-A-G	c.623T>C	p.F208S	Missense	4/11	-	1
19-55451566-C-A	c.621G>T	p.A207=	Synonymous	4/11	-	4
19-55451566-C-G	c.621G>C	p.A207=	Synonymous	4/11	-	3
19-55451566-C-T	c.621G>A	p.A207=	Synonymous	4/11	-	4
19-55451567-G-A	c.620C>T	p.A207V	Missense	4/11	-	1
19-55451568-C-A	c.619G>T	p.A207S	Missense	4/11	-	1
19-55451568-C-T	c.619G>A	p.A207T	Missense	4/11	-	5
19-55451569-G-A	c.618C>T	p.Y206=	Synonymous	4/11	-	1
19-55451569-G-T	c.618C>A	p.Y206*	Nonsense	4/11	-	1
19-55451572-TCT-CCA	c.613_615delinsTGG	p.R205W	Missense	4/11	-	1
19-55451574-T-C	c.613A>G	p.R205G	Missense	4/11	-	1
19-55451575-G-A	c.612C>T	p.L204=	Synonymous	4/11	-	1
19-55451575-G-C	c.612C>G	p.L204=	Synonymous	4/11	-	1
19-55451575-G-T	c.612C>A	p.L204=	Synonymous	4/11	-	1
19-55451578-C-A	c.609G>T	p.T203=	Synonymous	4/11	-	3
19-55451578-C-G	c.609G>C	p.T203=	Synonymous	4/11	-	2
19-55451578-C-T	c.609G>A	p.T203=	Synonymous	4/11	-	3
19-55451579-G-A	c.608C>T	p.T203M	Missense	4/11	-	2
19-55451579-G-C	c.608C>G	p.T203R	Missense	4/11	-	1
19-55451580-T-C	c.607A>G	p.T203A	Missense	4/11	-	1
19-55451581-C-A	c.606G>T	p.P202=	Synonymous	4/11	-	1
19-55451581-C-T	c.606G>A	p.P202=	Synonymous	4/11	-	1
19-55451582-G-A	c.605C>T	p.P202L	Missense	4/11	-	1
19-55451582-G-T	c.605C>A	p.P202Q	Missense	4/11	-	1
19-55451583-G-A	c.604C>T	p.P202S	Missense	4/11	-	1
19-55451583-G-T	c.604C>A	p.P202T	Missense	4/11	-	1
19-55451584-G-A	c.603C>T	p.S201=	Synonymous	4/11	-	1
19-55451584-G-C	c.603C>G	p.S201R	Missense	4/11	-	1
19-55451585-C-T	c.602G>A	p.S201N	Missense	4/11	-	2
19-55451587-G-A	c.600C>T	p.L200=	Synonymous	4/11	-	1
19-55451591-T-G	c.596A>C	p.N199T	Missense	4/11	-	1
19-55451592-T-C	c.595A>G	p.N199D	Missense	4/11	-	4
19-55451597-T-A	c.590A>T	p.D197V	Missense	4/11	-	1
19-55451598-C-T	c.589G>A	p.D197N	Missense	4/11	-	3
19-55451608-C-A	c.579G>T	p.L193=	Synonymous	4/11	-	1
19-55451609-CA-C	c.578del	p.L193Rfs*34	Frameshift	4/11	-	1
19-55451613-T-A	c.574A>T	p.M192L	Missense	4/11	-	2
19-55451613-T-C	c.574A>G	p.M192V	Missense	4/11	-	2
19-55451613-T-G	c.574A>C	p.M192L	Missense	4/11	-	12
19-55451615-C-T	c.572G>A	p.C191Y	Missense	4/11	-	1
19-55451617-C-T	c.570G>A	p.K190=	Synonymous	4/11	-	1
19-55451619-T-G	c.568A>C	p.K190Q	Missense	4/11	-	1
19-55451625-C-G	c.562G>C	p.A188P	Missense	4/11	-	2
19-55451626-C-A	c.561G>T	p.L187=	Synonymous	4/11	-	1
19-55451626-C-G	c.561G>C	p.L187=	Synonymous	4/11	-	1
19-55451626-C-T	c.561G>A	p.L187=	Synonymous	4/11	-	1
19-55451628-G-A	c.559C>T	p.L187=	Synonymous	4/11	-	1
19-55451628-G-C	c.559C>G	p.L187V	Missense	4/11	-	3
19-55451629-C-T	c.558G>A	p.T186=	Synonymous	4/11	-	2
19-55451630-G-A	c.557C>T	p.T186M	Missense	4/11	-	1
19-55451629-CGTG-C	c.555_557del	p.T186del	InFrameDeletion	4/11	-	1
19-55451632-G-A	c.555C>T	p.T185=	Synonymous	4/11	-	1
19-55451638-C-T	c.549G>A	p.G183=	Synonymous	4/11	-	5
19-55451639-C-T	c.548G>A	p.G183E	Missense	4/11	-	1
19-55451643-C-T	c.544G>A	p.V182M	Missense	4/11	-	10
19-55451644-G-A	c.543C>T	p.G181=	Synonymous	4/11	-	3
19-55451644-G-C	c.543C>G	p.G181=	Synonymous	4/11	-	2
19-55451644-G-T	c.543C>A	p.G181=	Synonymous	4/11	-	2
19-55451645-C-T	c.542G>A	p.G181D	Missense	4/11	-	1
19-55451648-G-T	c.539C>A	p.A180E	Missense	4/11	-	1
19-55451649-C-T	c.538G>A	p.A180T	Missense	4/11	-	1
19-55451652-G-A	c.535C>T	p.P179S	Missense	4/11	-	1
19-55451653-G-A	c.534C>T	p.G178=	Synonymous	4/11	-	1
19-55451653-G-T	c.534C>A	p.G178=	Synonymous	4/11	-	1
19-55451655-C-G	c.532G>C	p.G178R	Missense	4/11	-	1
19-55451655-C-T	c.532G>A	p.G178S	Missense	4/11	-	2
19-55451656-G-A	c.531C>T	p.H177=	Synonymous	4/11	-	2
19-55451659-C-A	c.528G>T	p.L176=	Synonymous	4/11	-	1
19-55451659-C-G	c.528G>C	p.L176=	Synonymous	4/11	-	1
19-55451659-C-T	c.528G>A	p.L176=	Synonymous	4/11	-	1
19-55451661-G-A	c.526C>T	p.L176=	Synonymous	4/11	-	1
19-55451663-A-C	c.524T>G	p.V175G	Missense	4/11	-	1
19-55451665-C-A	c.522G>T	p.V174=	Synonymous	4/11	-	1
19-55451665-C-G	c.522G>C	p.V174=	Synonymous	4/11	-	1
19-55451665-C-T	c.522G>A	p.V174=	Synonymous	4/11	-	5
19-55451666-A-G	c.521T>C	p.V174A	Missense	4/11	-	1
19-55451668-C-T	c.519G>A	p.T173=	Synonymous	4/11	-	1
19-55451669-G-A	c.518C>T	p.T173M	Missense	4/11	-	3
19-55451671-G-T	c.516C>A	p.Y172*	Nonsense	4/11	-	2
19-55451674-A-C	c.513T>G	p.P171=	Synonymous	4/11	-	1
19-55451674-A-G	c.513T>C	p.P171=	Synonymous	4/11	-	1
19-55451674-A-T	c.513T>A	p.P171=	Synonymous	4/11	-	1
19-55451675-G-A	c.512C>T	p.P171L	Missense	4/11	-	1
19-55451677-TG-CA	c.509_510inv	p.T170M	Missense	4/11	-	1
19-55451680-T-A	c.507A>T	p.L169=	Synonymous	4/11	-	1
19-55451680-T-C	c.507A>G	p.L169=	Synonymous	4/11	-	1
19-55451680-T-G	c.507A>C	p.L169=	Synonymous	4/11	-	1
19-55451682-G-A	c.505C>T	p.L169=	Synonymous	4/11	-	2
19-55451683-C-A	c.504G>T	p.K168N	Missense	4/11	-	1
19-55451683-C-G	c.504G>C	p.K168N	Missense	4/11	-	1
19-55451686-CCT-ACA	c.499_501delinsTGT	p.R167C	Missense	4/11	-	1
19-55451687-C-A	c.500G>T	p.R167M	Missense	4/11	-	2
19-55451690-G-A	c.497C>T	p.P166L	Missense	4/11	-	1
19-55451696-C-G	c.491G>C	p.R164T	Missense	4/11	-	1
19-55451698-G-A	c.489C>T	p.P163=	Synonymous	4/11	-	1
19-55451699-G-A	c.488C>T	p.P163L	Missense	4/11	-	5
19-55451700-G-A	c.487C>T	p.P163S	Missense	4/11	-	1
19-55451704-C-T	c.483G>A	p.L161=	Synonymous	4/11	-	5
19-55451706-A-G	c.481T>C	p.L161=	Synonymous	4/11	-	1
19-55451707-G-A	c.480C>T	p.F160=	Synonymous	4/11	-	2
19-55451707-G-C	c.480C>G	p.F160L	Missense	4/11	-	1
19-55451719-CCG-ACA	c.466_468delinsTGT	p.R156C	Missense	4/11	-	1
19-55451720-C-A	c.467G>T	p.R156L	Missense	4/11	-	1
19-55451720-C-T	c.467G>A	p.R156Q	Missense	4/11	-	15
19-55451721-G-A	c.466C>T	p.R156W	Missense	4/11	-	2
19-55451722-T-C	c.465A>G	p.Q155=	Synonymous	4/11	-	1
19-55451724-G-T	c.463C>A	p.Q155K	Missense	4/11	-	1
19-55451725-G-C	c.462C>G	p.N154K	Missense	4/11	-	1
19-55451725-G-T	c.462C>A	p.N154K	Missense	4/11	-	1
19-55451726-T-A	c.461A>T	p.N154I	Missense	4/11	-	1
19-55451728-TCT-ACA	c.457_459delinsTGT	p.R153C	Missense	4/11	-	1
19-55451729-C-A	c.458G>T	p.R153I	Missense	4/11	-	1
19-55451731-C-A	c.456G>T	p.L152=	Synonymous	4/11	-	1
19-55451731-C-G	c.456G>C	p.L152=	Synonymous	4/11	-	1
19-55451731-C-T	c.456G>A	p.L152=	Synonymous	4/11	-	1
19-55451733-G-A	c.454C>T	p.L152=	Synonymous	4/11	-	1
19-55451733-G-T	c.454C>A	p.L152M	Missense	4/11	-	1
19-55451734-A-C	c.453T>G	p.T151=	Synonymous	4/11	-	1
19-55451734-A-G	c.453T>C	p.T151=	Synonymous	4/11	-	1
19-55451734-A-T	c.453T>A	p.T151=	Synonymous	4/11	-	1
19-55451739-C-T	c.448G>A	p.V150I	Missense	4/11	-	2
19-55451740-G-A	c.447C>T	p.D149=	Synonymous	4/11	-	3
19-55451742-C-T	c.445G>A	p.D149N	Missense	4/11	-	2
19-55451743-G-A	c.444C>T	p.D148=	Synonymous	4/11	-	3
19-55451745-C-T	c.442G>A	p.D148N	Missense	4/11	-	1
19-55451749-G-A	c.438C>T	p.F146=	Synonymous	4/11	-	1
19-55451754-T-C	c.433A>G	p.N145D	Missense	4/11	-	1
19-55451758-A-G	c.429T>C	p.I143=	Synonymous	4/11	-	1
19-55451763-C-A	c.424G>T	p.D142Y	Missense	4/11	-	6
19-55451763-C-T	c.424G>A	p.D142N	Missense	4/11	-	1
19-55451765-C-T	c.422G>A	p.G141E	Missense	4/11	-	6
19-55451766-C-T	c.421G>A	p.G141R	Missense	4/11	-	4
19-55451768-T-G	c.419A>C	p.Q140P	Missense	4/11	-	1
19-55451770-C-T	c.417G>A	p.W139*	Nonsense	4/11	-	1
19-55451775-A-G	c.412T>C	p.F138L	Missense	4/11	-	1
19-55451776-G-T	c.411C>A	p.T137=	Synonymous	4/11	-	1
19-55451782-C-A	c.405G>T	p.K135N	Missense	4/11	-	1
19-55451782-C-T	c.405G>A	p.K135=	Synonymous	4/11	-	1
19-55451785-C-T	c.402G>A	p.W134*	Nonsense	4/11	-	1
19-55451786-C-A	c.401G>T	p.W134L	Missense	4/11	-	1
19-55451786-C-T	c.401G>A	p.W134*	Nonsense	4/11	-	1
19-55451792-A-G	c.395T>C	p.L132S	Missense	4/11	-	1
19-55451794-A-T	c.393T>A	p.S131=	Synonymous	4/11	-	4
19-55451797-C-T	c.390G>A	p.Q130=	Synonymous	4/11	-	19
19-55451799-G-A	c.388C>T	p.Q130*	Nonsense	4/11	-	1
19-55451803-C-A	c.384G>T	p.E128D	Missense	4/11	-	1
19-55451803-C-G	c.384G>C	p.E128D	Missense	4/11	-	1
19-55451805-C-T	c.382G>A	p.E128K	Missense	4/11	-	5
19-55451809-TGA-GTT	c.376_378delinsAAC	p.S126N	Missense	4/11	-	1
19-55451810-G-A	c.377C>T	p.S126L	Missense	4/11	-	1
19-55451811-A-C	c.376T>G	p.S126A	Missense	4/11	-	1
19-55451814-T-C	c.373A>G	p.N125D	Missense	4/11	-	1
19-55451816-C-T	c.371G>A	p.R124K	Missense	4/11	-	2
19-55451818-C-T	c.369G>A	p.W123*	Nonsense	4/11	-	5
19-55451819-C-A	c.368G>T	p.W123L	Missense	4/11	-	1
19-55451819-C-T	c.368G>A	p.W123*	Nonsense	4/11	-	5
19-55451824-T-G	c.363A>C	p.E121D	Missense	4/11	-	1
19-55451825-T-A	c.362A>T	p.E121V	Missense	4/11	-	1
19-55451828-T-A	c.359A>T	p.K120M	Missense	4/11	-	1
19-55451828-T-C	c.359A>G	p.K120R	Missense	4/11	-	1
19-55451830-T-C	c.357A>G	p.E119=	Synonymous	4/11	-	1
19-55451834-C-T	c.353G>A	p.G118D	Missense	4/11	-	1
19-55451890-T-C	c.353-56A>G	-	IntronicSNV	-	3/10	2
19-55452050-G-C	c.353-216C>G	-	IntronicSNV	-	3/10	1
19-55452169-T-C	c.352+130A>G	-	IntronicSNV	-	3/10	2
19-55452194-C-CA	c.352+104dup	-	IntronicInsertion	-	3/10	1
19-55452293-A-C	c.352+6T>G	-	IntronicSNV	-	3/10	1
19-55452297-A-C	c.352+2T>G	-	IntronicSNV	-	3/10	1
19-55452299-C-G	c.352G>C	p.G118R	Missense	3/11	-	1
19-55452301-G-A	c.350C>T	p.P117L	Missense	3/11	-	2
19-55452301-G-T	c.350C>A	p.P117Q	Missense	3/11	-	1
19-55452303-C-T	c.348G>A	p.K116=	Synonymous	3/11	-	4
19-55452304-T-A	c.347A>T	p.K116M	Missense	3/11	-	1
19-55452305-T-A	c.346A>T	p.K116*	Nonsense	3/11	-	1
19-55452313-T-TC	c.337dup	p.E113Gfs*7	Frameshift	3/11	-	2
19-55452315-C-A	c.336G>T	p.S112=	Synonymous	3/11	-	1
19-55452315-C-G	c.336G>C	p.S112=	Synonymous	3/11	-	1
19-55452315-C-T	c.336G>A	p.S112=	Synonymous	3/11	-	4
19-55452316-G-A	c.335C>T	p.S112L	Missense	3/11	-	2
19-55452322-T-C	c.329A>G	p.E110G	Missense	3/11	-	1
19-55452323-C-G	c.328G>C	p.E110Q	Missense	3/11	-	1
19-55452324-T-C	c.327A>G	p.E109=	Synonymous	3/11	-	2
19-55452326-C-T	c.325G>A	p.E109K	Missense	3/11	-	1
19-55452327-T-C	c.324A>G	p.A108=	Synonymous	3/11	-	1
19-55452328-G-A	c.323C>T	p.A108V	Missense	3/11	-	2
19-55452329-C-T	c.322G>A	p.A108T	Missense	3/11	-	3
19-55452333-T-A	c.318A>T	p.G106=	Synonymous	3/11	-	1
19-55452333-T-C	c.318A>G	p.G106=	Synonymous	3/11	-	1
19-55452333-T-G	c.318A>C	p.G106=	Synonymous	3/11	-	1
19-55452335-C-G	c.316G>C	p.G106R	Missense	3/11	-	1
19-55452335-C-T	c.316G>A	p.G106R	Missense	3/11	-	2
19-55452336-C-A	c.315G>T	p.L105=	Synonymous	3/11	-	1
19-55452344-G-A	c.307C>T	p.P103S	Missense	3/11	-	2
19-55452346-T-G	c.305A>C	p.N102T	Missense	3/11	-	1
19-55452348-A-C	c.303T>G	p.D101E	Missense	3/11	-	2
19-55452348-A-T	c.303T>A	p.D101E	Missense	3/11	-	3
19-55452354-T-A	c.297A>T	p.E99D	Missense	3/11	-	1
19-55452354-T-G	c.297A>C	p.E99D	Missense	3/11	-	1
19-55452356-C-A	c.295G>T	p.E99*	Nonsense	3/11	-	3
19-55452356-C-T	c.295G>A	p.E99K	Missense	3/11	-	3
19-55452364-T-C	c.287A>G	p.Q96R	Missense	3/11	-	1
19-55452365-G-C	c.286C>G	p.Q96E	Missense	3/11	-	1
19-55452367-C-T	c.284G>A	p.G95E	Missense	3/11	-	2
19-55452368-C-A	c.283G>T	p.G95*	Nonsense	3/11	-	1
19-55452368-C-G	c.283G>C	p.G95R	Missense	3/11	-	2
19-55452368-C-T	c.283G>A	p.G95R	Missense	3/11	-	4
19-55452369-G-A	c.282C>T	p.D94=	Synonymous	3/11	-	1
19-55452371-C-T	c.280G>A	p.D94N	Missense	3/11	-	3
19-55452418-C-T	c.278-45G>A	-	IntronicSNV	-	2/10	1
19-55452749-C-CA	c.277+53dup	-	IntronicInsertion	-	2/10	1
19-55452796-T-C	c.277+7A>G	-	IntronicSNV	-	2/10	1
19-55452802-C-G	c.277+1G>C	-	IntronicSNV	-	2/10	3
19-55452803-C-A	c.277G>T	p.E93*	Nonsense	2/11	-	1
19-55452807-C-T	c.273G>A	p.M91I	Missense	2/11	-	1
19-55452810-C-A	c.270G>T	p.E90D	Missense	2/11	-	1
19-55452810-C-G	c.270G>C	p.E90D	Missense	2/11	-	1
19-55452812-C-G	c.268G>C	p.E90Q	Missense	2/11	-	1
19-55452814-G-A	c.266C>T	p.A89V	Missense	2/11	-	1
19-55452814-GC-CA	c.265_266delinsTG	p.A89C	Missense	2/11	-	2
19-55452814-G-T	c.266C>A	p.A89D	Missense	2/11	-	2
19-55452815-C-A	c.265G>T	p.A89S	Missense	2/11	-	1
19-55452819-TGC-GTT	c.259_261delinsAAC	p.A87N	Missense	2/11	-	1
19-55452819-TG-GT	c.260_261delinsAC	p.A87D	Missense	2/11	-	1
19-55452820-G-A	c.260C>T	p.A87V	Missense	2/11	-	2
19-55452820-GC-TG	c.259_260delinsCA	p.A87Q	Missense	2/11	-	1
19-55452823-A-G	c.257T>C	p.M86T	Missense	2/11	-	1
19-55452825-C-T	c.255G>A	p.K85=	Synonymous	2/11	-	1
19-55452826-T-A	c.254A>T	p.K85M	Missense	2/11	-	1
19-55452826-T-G	c.254A>C	p.K85T	Missense	2/11	-	4
19-55452829-C-T	c.251G>A	p.C84Y	Missense	2/11	-	9
19-55452831-C-A	c.249G>T	p.L83F	Missense	2/11	-	1
19-55452831-C-G	c.249G>C	p.L83F	Missense	2/11	-	1
19-55452831-C-T	c.249G>A	p.L83=	Synonymous	2/11	-	1
19-55452836-C-T	c.244G>A	p.E82K	Missense	2/11	-	1
19-55452837-C-A	c.243G>T	p.T81=	Synonymous	2/11	-	1
19-55452837-C-G	c.243G>C	p.T81=	Synonymous	2/11	-	1
19-55452837-C-T	c.243G>A	p.T81=	Synonymous	2/11	-	1
19-55452838-G-A	c.242C>T	p.T81M	Missense	2/11	-	2
19-55452839-T-G	c.241A>C	p.T81P	Missense	2/11	-	2
19-55452840-G-A	c.240C>T	p.L80=	Synonymous	2/11	-	1
19-55452840-G-C	c.240C>G	p.L80=	Synonymous	2/11	-	2
19-55452840-G-T	c.240C>A	p.L80=	Synonymous	2/11	-	1
19-55452843-A-G	c.237T>C	p.N79=	Synonymous	2/11	-	1
19-55452844-T-G	c.236A>C	p.N79T	Missense	2/11	-	1
19-55452846-C-A	c.234G>T	p.M78I	Missense	2/11	-	2
19-55452846-C-G	c.234G>C	p.M78I	Missense	2/11	-	2
19-55452846-C-T	c.234G>A	p.M78I	Missense	2/11	-	5
19-55452848-T-C	c.232A>G	p.M78V	Missense	2/11	-	1
19-55452849-C-G	c.231G>C	p.E77D	Missense	2/11	-	2
19-55452849-C-T	c.231G>A	p.E77=	Synonymous	2/11	-	1
19-55452851-C-T	c.229G>A	p.E77K	Missense	2/11	-	3
19-55452858-G-A	c.222C>T	p.I74=	Synonymous	2/11	-	1
19-55452858-G-T	c.222C>A	p.I74=	Synonymous	2/11	-	1
19-55452860-T-C	c.220A>G	p.I74V	Missense	2/11	-	1
19-55452863-T-C	c.217A>G	p.N73D	Missense	2/11	-	1
19-55452864-C-A	c.216G>T	p.V72=	Synonymous	2/11	-	1
19-55452864-C-G	c.216G>C	p.V72=	Synonymous	2/11	-	1
19-55452864-C-T	c.216G>A	p.V72=	Synonymous	2/11	-	2
19-55452868-G-A	c.212C>T	p.T71I	Missense	2/11	-	1
19-55452870-C-T	c.210G>A	p.A70=	Synonymous	2/11	-	5
19-55452871-G-A	c.209C>T	p.A70V	Missense	2/11	-	3
19-55452878-T-C	c.202A>G	p.R68G	Missense	2/11	-	1
19-55452880-A-G	c.200T>C	p.I67T	Missense	2/11	-	1
19-55452882-C-G	c.198G>C	p.W66C	Missense	2/11	-	1
19-55452888-T-C	c.192A>G	p.E64=	Synonymous	2/11	-	4
19-55452892-G-A	c.188C>T	p.S63L	Missense	2/11	-	4
19-55452894-G-T	c.186C>A	p.S62=	Synonymous	2/11	-	1
19-55452895-G-A	c.185C>T	p.S62F	Missense	2/11	-	1
19-55452896-GA-G	c.184del	p.S62Pfs*6	Frameshift	2/11	-	1
19-55452898-G-A	c.182C>T	p.T61I	Missense	2/11	-	1
19-55452898-G-C	c.182C>G	p.T61S	Missense	2/11	-	1
19-55452898-G-T	c.182C>A	p.T61N	Missense	2/11	-	4
19-55452899-T-A	c.181A>T	p.T61S	Missense	2/11	-	1
19-55452899-T-C	c.181A>G	p.T61A	Missense	2/11	-	1
19-55452900-G-C	c.180C>G	p.N60K	Missense	2/11	-	1
19-55452901-T-C	c.179A>G	p.N60S	Missense	2/11	-	1
19-55452905-C-A	c.175G>T	p.V59F	Missense	2/11	-	1
19-55452905-C-T	c.175G>A	p.V59I	Missense	2/11	-	2
19-55452912-T-C	c.168A>G	p.E56=	Synonymous	2/11	-	1
19-55452915-T-A	c.165A>T	p.A55=	Synonymous	2/11	-	1
19-55452915-T-C	c.165A>G	p.A55=	Synonymous	2/11	-	1
19-55452915-T-G	c.165A>C	p.A55=	Synonymous	2/11	-	1
19-55452916-GC-CT	c.163_164delinsAG	p.A55R	Missense	2/11	-	1
19-55452917-C-T	c.163G>A	p.A55T	Missense	2/11	-	2
19-55452922-T-G	c.158A>C	p.K53T	Missense	2/11	-	2
19-55452924-C-T	c.156G>A	p.K52=	Synonymous	2/11	-	1
19-55452926-T-G	c.154A>C	p.K52Q	Missense	2/11	-	1
19-55452928-C-A	c.152G>T	p.G51V	Missense	2/11	-	2
19-55452928-C-T	c.152G>A	p.G51D	Missense	2/11	-	1
19-55452932-C-T	c.148G>A	p.D50N	Missense	2/11	-	1
19-55452934-GC-CA	c.145_146delinsTG	p.A49C	Missense	2/11	-	1
19-55452934-G-T	c.146C>A	p.A49D	Missense	2/11	-	1
19-55452936-CTC-ACA	c.142_144delinsTGT	p.E48C	Missense	2/11	-	1
19-55452939-T-A	c.141A>T	p.E47D	Missense	2/11	-	1
19-55452939-T-G	c.141A>C	p.E47D	Missense	2/11	-	1
19-55452942-C-T	c.138G>A	p.V46=	Synonymous	2/11	-	1
19-55452944-C-T	c.136G>A	p.V46M	Missense	2/11	-	2
19-55452945-C-A	c.135G>T	p.E45D	Missense	2/11	-	1
19-55452945-C-G	c.135G>C	p.E45D	Missense	2/11	-	1
19-55452948-A-C	c.132T>G	p.S44=	Synonymous	2/11	-	1
19-55452948-A-G	c.132T>C	p.S44=	Synonymous	2/11	-	1
19-55452948-A-T	c.132T>A	p.S44=	Synonymous	2/11	-	1
19-55452949-G-A	c.131C>T	p.S44F	Missense	2/11	-	2
19-55452951-C-T	c.129G>A	p.W43*	Nonsense	2/11	-	4
19-55452952-C-T	c.128G>A	p.W43*	Nonsense	2/11	-	1
19-55452955-G-T	c.125C>A	p.P42Q	Missense	2/11	-	1
19-55452956-G-C	c.124C>G	p.P42A	Missense	2/11	-	2
19-55452958-G-A	c.122C>T	p.T41I	Missense	2/11	-	1
19-55452960-C-A	c.120G>T	p.K40N	Missense	2/11	-	1
19-55452960-C-G	c.120G>C	p.K40N	Missense	2/11	-	1
19-55452960-C-T	c.120G>A	p.K40=	Synonymous	2/11	-	2
19-55452962-T-C	c.118A>G	p.K40E	Missense	2/11	-	1
19-55452966-T-A	c.114A>T	p.L38=	Synonymous	2/11	-	1
19-55452966-T-C	c.114A>G	p.L38=	Synonymous	2/11	-	1
19-55452966-T-G	c.114A>C	p.L38=	Synonymous	2/11	-	1
19-55452968-G-A	c.112C>T	p.L38=	Synonymous	2/11	-	1
19-55452970-A-G	c.110T>C	p.V37A	Missense	2/11	-	1
19-55452970-A-T	c.110T>A	p.V37E	Missense	2/11	-	1
19-55452971-AC-A	c.109del	p.V37Cfs*31	Frameshift	2/11	-	1
19-55452971-C-T	c.109G>A	p.V37M	Missense	2/11	-	1
19-55452972-G-A	c.108C>T	p.D36=	Synonymous	2/11	-	1
19-55452977-C-T	c.103G>A	p.E35K	Missense	2/11	-	2
19-55452978-G-A	c.102C>T	p.L34=	Synonymous	2/11	-	5
19-55452978-G-C	c.102C>G	p.L34=	Synonymous	2/11	-	5
19-55452978-G-T	c.102C>A	p.L34=	Synonymous	2/11	-	2
19-55452980-G-A	c.100C>T	p.L34F	Missense	2/11	-	2
19-55452981-G-A	c.99C>T	p.P33=	Synonymous	2/11	-	4
19-55452982-G-A	c.98C>T	p.P33L	Missense	2/11	-	6
19-55452983-G-A	c.97C>T	p.P33S	Missense	2/11	-	6
19-55452987-A-G	c.93T>C	p.A31=	Synonymous	2/11	-	1
19-55452989-C-A	c.91G>T	p.A31S	Missense	2/11	-	1
19-55452990-C-A	c.90G>T	p.W30C	Missense	2/11	-	1
19-55452990-C-G	c.90G>C	p.W30C	Missense	2/11	-	1
19-55452991-C-T	c.89G>A	p.W30*	Nonsense	2/11	-	1
19-55452994-A-G	c.86T>C	p.L29S	Missense	2/11	-	1
19-55452995-A-C	c.85T>G	p.L29V	Missense	2/11	-	1
19-55452996-AAG-CTC	c.82_84delinsGAG	p.L28E	Missense	2/11	-	1
19-55452997-A-C	c.83T>G	p.L28R	Missense	2/11	-	1
19-55452998-G-A	c.82C>T	p.L28F	Missense	2/11	-	1
19-55452999-G-A	c.81C>T	p.S27=	Synonymous	2/11	-	4
19-55453000-G-A	c.80C>T	p.S27F	Missense	2/11	-	2
19-55453001-A-C	c.79T>G	p.S27A	Missense	2/11	-	1
19-55453001-AT-A	c.78del	p.K26Nfs*42	Frameshift	2/11	-	1
19-55453005-G-T	c.75C>A	p.F25L	Missense	2/11	-	1
19-55453008-ACT-TCA	c.70_72delinsTGA	p.S24*	Nonsense	2/11	-	1
19-55453010-T-G	c.70A>C	p.S24R	Missense	2/11	-	1
19-55453011-C-A	c.69G>T	p.K23N	Missense	2/11	-	2
19-55453011-C-G	c.69G>C	p.K23N	Missense	2/11	-	2
19-55453012-T-C	c.68A>G	p.K23R	Missense	2/11	-	2
19-55453014-T-C	c.66A>G	p.L22=	Synonymous	2/11	-	1
19-55453019-C-T	c.61G>A	p.E21K	Missense	2/11	-	1
19-55453022-C-T	c.58G>A	p.D20N	Missense	2/11	-	1
19-55453023-C-A	c.57G>T	p.E19D	Missense	2/11	-	2
19-55453023-C-G	c.57G>C	p.E19D	Missense	2/11	-	1
19-55453025-C-T	c.55G>A	p.E19K	Missense	2/11	-	5
19-55453026-G-A	c.54C>T	p.N18=	Synonymous	2/11	-	2
19-55453026-G-C	c.54C>G	p.N18K	Missense	2/11	-	2
19-55453026-G-T	c.54C>A	p.N18K	Missense	2/11	-	1
19-55453029-C-T	c.51G>A	p.L17=	Synonymous	2/11	-	2
19-55453034-G-A	c.46C>T	p.Q16*	Nonsense	2/11	-	1
19-55453037-C-T	c.43G>A	p.E15K	Missense	2/11	-	1
19-55453041-A-C	c.39T>G	p.L13=	Synonymous	2/11	-	1
19-55453041-A-G	c.39T>C	p.L13=	Synonymous	2/11	-	1
19-55453041-A-T	c.39T>A	p.L13=	Synonymous	2/11	-	1
19-55453043-G-A	c.37C>T	p.L13F	Missense	2/11	-	1
19-55453043-G-C	c.37C>G	p.L13V	Missense	2/11	-	1
19-55453044-G-A	c.36C>T	p.T12=	Synonymous	2/11	-	3
19-55453044-G-T	c.36C>A	p.T12=	Synonymous	2/11	-	1
19-55453049-G-C	c.31C>G	p.Q11E	Missense	2/11	-	2
19-55453050-C-A	c.30G>T	p.L10=	Synonymous	2/11	-	2
19-55453050-C-G	c.30G>C	p.L10=	Synonymous	2/11	-	2
19-55453050-C-T	c.30G>A	p.L10=	Synonymous	2/11	-	2
19-55453052-G-A	c.28C>T	p.L10=	Synonymous	2/11	-	4
19-55453055-T-G	c.25A>C	p.T9P	Missense	2/11	-	1
19-55453056-C-A	c.24G>T	p.W8C	Missense	2/11	-	1
19-55453056-C-G	c.24G>C	p.W8C	Missense	2/11	-	1
19-55453058-A-G	c.22T>C	p.W8R	Missense	2/11	-	1
19-55453058-A-T	c.22T>A	p.W8R	Missense	2/11	-	2
19-55453059-C-T	c.21G>A	p.E7=	Synonymous	2/11	-	1
19-55453062-T-C	c.18A>G	p.L6=	Synonymous	2/11	-	3
19-55453063-A-G	c.17T>C	p.L6P	Missense	2/11	-	1
19-55453067-G-A	c.13C>T	p.Q5*	Nonsense	2/11	-	1
19-55453068-G-A	c.12C>T	p.P4=	Synonymous	2/11	-	1
19-55453068-G-C	c.12C>G	p.P4=	Synonymous	2/11	-	1
19-55453068-G-T	c.12C>A	p.P4=	Synonymous	2/11	-	1
19-55453070-G-A	c.10C>T	p.P4S	Missense	2/11	-	1
19-55453070-G-C	c.10C>G	p.P4A	Missense	2/11	-	1
19-55453071-C-T	c.9G>A	p.S3=	Synonymous	2/11	-	1
19-55453072-G-A	c.8C>T	p.S3L	Missense	2/11	-	2
19-55453076-T-C	c.4A>G	p.T2A	Missense	2/11	-	1
19-55453077-C-T	c.3G>A	p.M1?	Missense	2/11	-	1
19-55453083-G-A	c.-40+36C>T	-	5-UTRSNV	-	1/10	2
19-55453088-G-A	c.-9C>T	-	5-UTRSNV	2/11	-	2
19-55453088-G-C	c.-9C>G	-	5-UTRSNV	2/11	-	2
19-55453088-G-T	c.-9C>A	-	5-UTRSNV	2/11	-	2
19-55453127-A-G	c.-39-9T>C	-	IntronicSNV	-	1/10	1
19-55453134-G-A	c.-39-16C>T	-	IntronicSNV	-	1/10	5
19-55453134-G-T	c.-39-16C>A	-	IntronicSNV	-	1/10	5
19-55453418-G-A	c.-39-300C>T	-	IntronicSNV	-	1/10	1
19-55455577-T-C	c.-39-2459A>G	-	IntronicSNV	-	1/10	1
19-55457640-C-G	c.-40+1197G>C	-	intron_variant	-	1/10	1
19-55457640-C-T	c.-40+1197G>A	-	intron_variant	-	1/10	1
19-55458673-C-A	c.-40+164G>T	-	intron_variant	-	1/10	1
19-55458673-C-T	c.-40+164G>A	-	intron_variant	-	1/10	1
19-55458705-A-G	c.-40+132T>C	-	intron_variant	-	1/10	1
19-55458816-G-A	c.-40+21C>T	-	intron_variant	-	1/10	2