KCNH5

KCNH5 potassium voltage-gated channel subfamily H member 5

Annotation transcript: NM_139318.5

1651 unique variant annotations were identified in 527 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
14-63171569-C-T	c.*2657G>A	-	IntergenicSNV	11/11	-	1
14-63173290-A-C	c.*936T>G	-	IntergenicSNV	11/11	-	1
14-63173290-A-T	c.*936T>A	-	IntergenicSNV	11/11	-	1
14-63173826-C-T	c.*400G>A	-	3-UTRSNV	11/11	-	1
14-63174229-A-T	c.2964T>A	p.F988L	Missense	11/11	-	2
14-63174233-T-A	c.2960A>T	p.H987L	Missense	11/11	-	1
14-63174237-T-C	c.2956A>G	p.I986V	Missense	11/11	-	1
14-63174240-C-A	c.2953G>T	p.E985*	Nonsense	11/11	-	2
14-63174240-C-T	c.2953G>A	p.E985K	Missense	11/11	-	9
14-63174242-T-A	c.2951A>T	p.D984V	Missense	11/11	-	2
14-63174245-T-C	c.2948A>G	p.K983R	Missense	11/11	-	1
14-63174245-T-G	c.2948A>C	p.K983T	Missense	11/11	-	3
14-63174249-C-T	c.2944G>A	p.D982N	Missense	11/11	-	1
14-63174257-G-A	c.2936C>T	p.P979L	Missense	11/11	-	1
14-63174260-G-A	c.2933C>T	p.S978L	Missense	11/11	-	2
14-63174264-C-T	c.2929G>A	p.E977K	Missense	11/11	-	1
14-63174266-G-A	c.2927C>T	p.P976L	Missense	11/11	-	1
14-63174267-G-A	c.2926C>T	p.P976S	Missense	11/11	-	4
14-63174274-G-A	c.2919C>T	p.V973=	Synonymous	11/11	-	1
14-63174274-G-T	c.2919C>A	p.V973=	Synonymous	11/11	-	1
14-63174282-A-G	c.2911T>C	p.F971L	Missense	11/11	-	1
14-63174286-A-G	c.2907T>C	p.D969=	Synonymous	11/11	-	1
14-63174288-C-T	c.2905G>A	p.D969N	Missense	11/11	-	11
14-63174289-C-T	c.2904G>A	p.Q968=	Synonymous	11/11	-	3
14-63174291-G-A	c.2902C>T	p.Q968*	Nonsense	11/11	-	1
14-63174291-G-T	c.2902C>A	p.Q968K	Missense	11/11	-	1
14-63174294-A-G	c.2899T>C	p.C967R	Missense	11/11	-	7
14-63174297-G-A	c.2896C>T	p.P966S	Missense	11/11	-	1
14-63174299-A-G	c.2894T>C	p.I965T	Missense	11/11	-	1
14-63174302-CT-C	c.2891del	p.Q964Rfs*59	Frameshift	11/11	-	1
14-63174302-T-C	c.2891A>G	p.Q964R	Missense	11/11	-	1
14-63174303-G-C	c.2890C>G	p.Q964E	Missense	11/11	-	3
14-63174303-G-T	c.2890C>A	p.Q964K	Missense	11/11	-	2
14-63174305-G-A	c.2888C>T	p.P963L	Missense	11/11	-	1
14-63174305-G-C	c.2888C>G	p.P963R	Missense	11/11	-	1
14-63174306-G-A	c.2887C>T	p.P963S	Missense	11/11	-	1
14-63174307-G-A	c.2886C>T	p.P962=	Synonymous	11/11	-	4
14-63174308-G-T	c.2885C>A	p.P962H	Missense	11/11	-	1
14-63174302-TG-T	c.2890del	p.Q964Rfs*59	Frameshift	11/11	-	1
14-63174302-T-TG	c.2890dup	p.Q964Pfs*9	Frameshift	11/11	-	10
14-63174309-G-A	c.2884C>T	p.P962S	Missense	11/11	-	2
14-63174312-C-A	c.2881G>T	p.V961L	Missense	11/11	-	1
14-63174313-T-C	c.2880A>G	p.Q960=	Synonymous	11/11	-	1
14-63174313-T-G	c.2880A>C	p.Q960H	Missense	11/11	-	4
14-63174319-T-A	c.2874A>T	p.P958=	Synonymous	11/11	-	1
14-63174319-T-C	c.2874A>G	p.P958=	Synonymous	11/11	-	1
14-63174319-T-G	c.2874A>C	p.P958=	Synonymous	11/11	-	1
14-63174320-G-A	c.2873C>T	p.P958L	Missense	11/11	-	1
14-63174320-G-C	c.2873C>G	p.P958R	Missense	11/11	-	1
14-63174321-G-A	c.2872C>T	p.P958S	Missense	11/11	-	2
14-63174327-G-C	c.2866C>G	p.Q956E	Missense	11/11	-	1
14-63174327-G-T	c.2866C>A	p.Q956K	Missense	11/11	-	1
14-63174329-G-A	c.2864C>T	p.S955F	Missense	11/11	-	8
14-63174329-GA-TT	c.2863_2864delinsAA	p.S955N	Missense	11/11	-	2
14-63174330-A-T	c.2863T>A	p.S955T	Missense	11/11	-	1
14-63174333-T-G	c.2860A>C	p.K954Q	Missense	11/11	-	1
14-63174334-G-A	c.2859C>T	p.P953=	Synonymous	11/11	-	3
14-63174335-G-A	c.2858C>T	p.P953L	Missense	11/11	-	4
14-63174336-G-A	c.2857C>T	p.P953S	Missense	11/11	-	3
14-63174336-G-C	c.2857C>G	p.P953A	Missense	11/11	-	3
14-63174343-G-A	c.2850C>T	p.A950=	Synonymous	11/11	-	1
14-63174344-G-A	c.2849C>T	p.A950V	Missense	11/11	-	1
14-63174345-C-T	c.2848G>A	p.A950T	Missense	11/11	-	2
14-63174348-G-A	c.2845C>T	p.Q949*	Nonsense	11/11	-	2
14-63174350-G-A	c.2843C>T	p.P948L	Missense	11/11	-	4
14-63174352-T-A	c.2841A>T	p.V947=	Synonymous	11/11	-	2
14-63174352-T-C	c.2841A>G	p.V947=	Synonymous	11/11	-	4
14-63174352-T-G	c.2841A>C	p.V947=	Synonymous	11/11	-	3
14-63174354-C-A	c.2839G>T	p.V947L	Missense	11/11	-	2
14-63174354-C-G	c.2839G>C	p.V947L	Missense	11/11	-	4
14-63174354-C-T	c.2839G>A	p.V947I	Missense	11/11	-	3
14-63174355-G-A	c.2838C>T	p.S946=	Synonymous	11/11	-	4
14-63174356-C-T	c.2837G>A	p.S946N	Missense	11/11	-	2
14-63174357-T-C	c.2836A>G	p.S946G	Missense	11/11	-	1
14-63174358-T-A	c.2835A>T	p.K945N	Missense	11/11	-	6
14-63174358-T-G	c.2835A>C	p.K945N	Missense	11/11	-	1
14-63174360-T-C	c.2833A>G	p.K945E	Missense	11/11	-	2
14-63174356-C-CT	c.2836dup	p.S946Kfs*27	Frameshift	11/11	-	1
14-63174362-T-C	c.2831A>G	p.E944G	Missense	11/11	-	2
14-63174363-C-T	c.2830G>A	p.E944K	Missense	11/11	-	1
14-63174364-C-A	c.2829G>T	p.S943=	Synonymous	11/11	-	1
14-63174364-C-G	c.2829G>C	p.S943=	Synonymous	11/11	-	1
14-63174364-C-T	c.2829G>A	p.S943=	Synonymous	11/11	-	5
14-63174365-G-A	c.2828C>T	p.S943L	Missense	11/11	-	5
14-63174366-A-G	c.2827T>C	p.S943P	Missense	11/11	-	1
14-63174367-C-A	c.2826G>T	p.L942=	Synonymous	11/11	-	1
14-63174367-C-G	c.2826G>C	p.L942=	Synonymous	11/11	-	2
14-63174367-C-T	c.2826G>A	p.L942=	Synonymous	11/11	-	1
14-63174369-G-A	c.2824C>T	p.L942=	Synonymous	11/11	-	1
14-63174369-GTA-G	c.2822_2823del	p.I941Tfs*31	Frameshift	11/11	-	1
14-63174371-A-T	c.2822T>A	p.I941K	Missense	11/11	-	1
14-63174375-T-C	c.2818A>G	p.K940E	Missense	11/11	-	2
14-63174376-T-C	c.2817A>G	p.L939=	Synonymous	11/11	-	1
14-63174378-A-G	c.2815T>C	p.L939=	Synonymous	11/11	-	1
14-63174378-A-T	c.2815T>A	p.L939I	Missense	11/11	-	1
14-63174381-T-A	c.2812A>T	p.I938F	Missense	11/11	-	1
14-63174381-T-C	c.2812A>G	p.I938V	Missense	11/11	-	1
14-63174382-T-C	c.2811A>G	p.E937=	Synonymous	11/11	-	1
14-63174390-C-T	c.2803G>A	p.V935M	Missense	11/11	-	1
14-63174394-C-A	c.2799G>T	p.K933N	Missense	11/11	-	1
14-63174394-C-G	c.2799G>C	p.K933N	Missense	11/11	-	1
14-63174400-T-C	c.2793A>G	p.L931=	Synonymous	11/11	-	1
14-63174402-G-T	c.2791C>A	p.L931I	Missense	11/11	-	1
14-63174404-G-T	c.2789C>A	p.A930D	Missense	11/11	-	5
14-63174405-C-A	c.2788G>T	p.A930S	Missense	11/11	-	4
14-63174411-T-C	c.2782A>G	p.M928V	Missense	11/11	-	1
14-63174421-G-A	c.2772C>T	p.L924=	Synonymous	11/11	-	1
14-63174421-G-C	c.2772C>G	p.L924=	Synonymous	11/11	-	1
14-63174421-G-T	c.2772C>A	p.L924=	Synonymous	11/11	-	2
14-63174426-G-T	c.2767C>A	p.L923M	Missense	11/11	-	1
14-63174427-C-A	c.2766G>T	p.Q922H	Missense	11/11	-	1
14-63174427-C-G	c.2766G>C	p.Q922H	Missense	11/11	-	2
14-63174428-T-A	c.2765A>T	p.Q922L	Missense	11/11	-	1
14-63174428-T-C	c.2765A>G	p.Q922R	Missense	11/11	-	2
14-63174438-C-T	c.2755G>A	p.E919K	Missense	11/11	-	1
14-63174447-C-T	c.2746G>A	p.E916K	Missense	11/11	-	21
14-63174448-G-A	c.2745C>T	p.H915=	Synonymous	11/11	-	3
14-63174459-C-T	c.2734G>A	p.E912K	Missense	11/11	-	4
14-63174460-C-A	c.2733G>T	p.Q911H	Missense	11/11	-	3
14-63174460-C-G	c.2733G>C	p.Q911H	Missense	11/11	-	1
14-63174460-C-T	c.2733G>A	p.Q911=	Synonymous	11/11	-	1
14-63174464-A-G	c.2729T>C	p.L910P	Missense	11/11	-	1
14-63174470-G-A	c.2723C>T	p.T908I	Missense	11/11	-	1
14-63174471-T-A	c.2722A>T	p.T908S	Missense	11/11	-	1
14-63174471-T-C	c.2722A>G	p.T908A	Missense	11/11	-	1
14-63174472-C-G	c.2721G>C	p.Q907H	Missense	11/11	-	1
14-63174472-C-T	c.2721G>A	p.Q907=	Synonymous	11/11	-	3
14-63174475-T-C	c.2718A>G	p.L906=	Synonymous	11/11	-	1
14-63174477-A-G	c.2716T>C	p.L906=	Synonymous	11/11	-	1
14-63174477-A-T	c.2716T>A	p.L906I	Missense	11/11	-	1
14-63174479-G-A	c.2714C>T	p.A905V	Missense	11/11	-	1
14-63174481-C-T	c.2712G>A	p.Q904=	Synonymous	11/11	-	2
14-63174483-G-A	c.2710C>T	p.Q904*	Nonsense	11/11	-	1
14-63174486-C-T	c.2707G>A	p.E903K	Missense	11/11	-	11
14-63174489-G-A	c.2704C>T	p.P902S	Missense	11/11	-	1
14-63174493-G-A	c.2700C>T	p.P900=	Synonymous	11/11	-	1
14-63174494-G-A	c.2699C>T	p.P900L	Missense	11/11	-	2
14-63174495-G-A	c.2698C>T	p.P900S	Missense	11/11	-	1
14-63174495-G-T	c.2698C>A	p.P900T	Missense	11/11	-	1
14-63174503-G-T	c.2690C>A	p.P897H	Missense	11/11	-	1
14-63174508-C-T	c.2685G>A	p.K895=	Synonymous	11/11	-	1
14-63174510-T-C	c.2683A>G	p.K895E	Missense	11/11	-	2
14-63174512-G-A	c.2681C>T	p.A894V	Missense	11/11	-	1
14-63174517-A-T	c.2676T>A	p.A892=	Synonymous	11/11	-	1
14-63174521-T-G	c.2672A>C	p.Q891P	Missense	11/11	-	1
14-63174523-G-C	c.2670C>G	p.I890M	Missense	11/11	-	1
14-63174526-G-A	c.2667C>T	p.P889=	Synonymous	11/11	-	1
14-63174526-G-C	c.2667C>G	p.P889=	Synonymous	11/11	-	1
14-63174526-G-T	c.2667C>A	p.P889=	Synonymous	11/11	-	1
14-63174527-G-A	c.2666C>T	p.P889L	Missense	11/11	-	5
14-63174528-G-A	c.2665C>T	p.P889S	Missense	11/11	-	2
14-63174531-T-C	c.2662A>G	p.S888G	Missense	11/11	-	1
14-63174535-C-T	c.2658G>A	p.E886=	Synonymous	11/11	-	1
14-63174536-T-C	c.2657A>G	p.E886G	Missense	11/11	-	1
14-63174537-C-A	c.2656G>T	p.E886*	Nonsense	11/11	-	1
14-63174537-C-T	c.2656G>A	p.E886K	Missense	11/11	-	1
14-63174541-C-A	c.2652G>T	p.P884=	Synonymous	11/11	-	1
14-63174542-G-A	c.2651C>T	p.P884L	Missense	11/11	-	2
14-63174542-G-T	c.2651C>A	p.P884Q	Missense	11/11	-	3
14-63174543-G-A	c.2650C>T	p.P884S	Missense	11/11	-	3
14-63174543-G-T	c.2650C>A	p.P884T	Missense	11/11	-	2
14-63174546-T-G	c.2647A>C	p.S883R	Missense	11/11	-	1
14-63174545-C-T	c.2648G>A	p.S883N	Missense	11/11	-	1
14-63174548-C-A	c.2645G>T	p.R882L	Missense	11/11	-	1
14-63174548-C-T	c.2645G>A	p.R882Q	Missense	11/11	-	2
14-63174549-G-A	c.2644C>T	p.R882*	Nonsense	11/11	-	3
14-63174551-G-A	c.2642C>T	p.A881V	Missense	11/11	-	1
14-63174556-C-T	c.2637G>A	p.G879=	Synonymous	11/11	-	1
14-63174557-C-G	c.2636G>C	p.G879A	Missense	11/11	-	4
14-63174561-C-T	c.2632G>A	p.A878T	Missense	11/11	-	5
14-63174563-T-C	c.2630A>G	p.K877R	Missense	11/11	-	1
14-63174567-C-A	c.2626G>T	p.D876Y	Missense	11/11	-	1
14-63174573-G-A	c.2620C>T	p.R874C	Missense	11/11	-	14
14-63174573-G-T	c.2620C>A	p.R874S	Missense	11/11	-	1
14-63174580-A-C	c.2613T>G	p.S871R	Missense	11/11	-	3
14-63174580-A-T	c.2613T>A	p.S871R	Missense	11/11	-	3
14-63174582-T-G	c.2611A>C	p.S871R	Missense	11/11	-	4
14-63174583-T-A	c.2610A>T	p.K870N	Missense	11/11	-	1
14-63174583-T-G	c.2610A>C	p.K870N	Missense	11/11	-	2
14-63174587-G-A	c.2606C>T	p.T869I	Missense	11/11	-	2
14-63174587-G-T	c.2606C>A	p.T869K	Missense	11/11	-	3
14-63174591-T-C	c.2602A>G	p.I868V	Missense	11/11	-	1
14-63174593-C-T	c.2600G>A	p.G867E	Missense	11/11	-	1
14-63174599-T-A	c.2594A>T	p.D865V	Missense	11/11	-	1
14-63174599-T-C	c.2594A>G	p.D865G	Missense	11/11	-	1
14-63174602-C-T	c.2591G>A	p.C864Y	Missense	11/11	-	1
14-63174604-A-C	c.2589T>G	p.S863=	Synonymous	11/11	-	1
14-63174604-A-G	c.2589T>C	p.S863=	Synonymous	11/11	-	1
14-63174604-A-T	c.2589T>A	p.S863=	Synonymous	11/11	-	1
14-63174608-T-C	c.2585A>G	p.D862G	Missense	11/11	-	1
14-63174609-C-G	c.2584G>C	p.D862H	Missense	11/11	-	1
14-63174609-C-T	c.2584G>A	p.D862N	Missense	11/11	-	5
14-63174612-T-A	c.2581A>T	p.T861S	Missense	11/11	-	2
14-63174616-T-C	c.2577A>G	p.R859=	Synonymous	11/11	-	21
14-63174617-C-G	c.2576G>C	p.R859T	Missense	11/11	-	1
14-63174624-G-T	c.2569C>A	p.P857T	Missense	11/11	-	1
14-63174627-T-G	c.2566A>C	p.N856H	Missense	11/11	-	2
14-63174627-T-TA	c.2565_2566insT	p.N856*	Nonsense	11/11	-	1
14-63174629-T-C	c.2564A>G	p.K855R	Missense	11/11	-	1
14-63174630-T-A	c.2563A>T	p.K855*	Nonsense	11/11	-	7
14-63174633-T-C	c.2560A>G	p.T854A	Missense	11/11	-	1
14-63174636-C-T	c.2557G>A	p.V853M	Missense	11/11	-	2
14-63174641-T-C	c.2552A>G	p.N851S	Missense	11/11	-	1
14-63174643-C-T	c.2550G>A	p.E850=	Synonymous	11/11	-	2
14-63174645-C-T	c.2548G>A	p.E850K	Missense	11/11	-	4
14-63174649-A-G	c.2544T>C	p.D848=	Synonymous	11/11	-	1
14-63174651-C-G	c.2542G>C	p.D848H	Missense	11/11	-	2
14-63174653-CT-AA	c.2539_2540delinsTT	p.S847F	Missense	11/11	-	1
14-63174656-C-A	c.2537G>T	p.S846I	Missense	11/11	-	1
14-63174656-C-T	c.2537G>A	p.S846N	Missense	11/11	-	1
14-63174659-T-C	c.2534A>G	p.K845R	Missense	11/11	-	1
14-63174661-G-A	c.2532C>T	p.P844=	Synonymous	11/11	-	2
14-63174662-G-A	c.2531C>T	p.P844L	Missense	11/11	-	3
14-63174663-G-A	c.2530C>T	p.P844S	Missense	11/11	-	2
14-63174666-C-A	c.2527G>T	p.D843Y	Missense	11/11	-	1
14-63174666-C-T	c.2527G>A	p.D843N	Missense	11/11	-	1
14-63174667-C-A	c.2526G>T	p.E842D	Missense	11/11	-	1
14-63174667-C-G	c.2526G>C	p.E842D	Missense	11/11	-	1
14-63174668-T-G	c.2525A>C	p.E842A	Missense	11/11	-	3
14-63174669-C-T	c.2524G>A	p.E842K	Missense	11/11	-	1
14-63174690-C-A	c.2503G>T	p.E835*	Nonsense	11/11	-	1
14-63174692-G-A	c.2501C>T	p.A834V	Missense	11/11	-	2
14-63174693-C-A	c.2500G>T	p.A834S	Missense	11/11	-	1
14-63174693-C-T	c.2500G>A	p.A834T	Missense	11/11	-	1
14-63174694-T-A	c.2499A>T	p.K833N	Missense	11/11	-	2
14-63174694-T-G	c.2499A>C	p.K833N	Missense	11/11	-	2
14-63174697-A-G	c.2496T>C	p.T832=	Synonymous	11/11	-	1
14-63174706-A-G	c.2487T>C	p.N829=	Synonymous	11/11	-	1
14-63174712-G-A	c.2481C>T	p.D827=	Synonymous	11/11	-	2
14-63174717-C-G	c.2476G>C	p.E826Q	Missense	11/11	-	1
14-63174717-C-T	c.2476G>A	p.E826K	Missense	11/11	-	7
14-63174719-T-C	c.2474A>G	p.K825R	Missense	11/11	-	1
14-63174720-T-A	c.2473A>T	p.K825*	Nonsense	11/11	-	2
14-63174724-C-T	c.2469G>A	p.E823=	Synonymous	11/11	-	4
14-63174726-C-T	c.2467G>A	p.E823K	Missense	11/11	-	2
14-63174729-C-T	c.2464G>A	p.E822K	Missense	11/11	-	2
14-63174735-C-T	c.2458G>A	p.A820T	Missense	11/11	-	1
14-63174737-C-T	c.2456G>A	p.G819E	Missense	11/11	-	1
14-63174743-T-C	c.2450A>G	p.N817S	Missense	11/11	-	4
14-63174746-T-C	c.2447A>G	p.N816S	Missense	11/11	-	1
14-63174751-G-A	c.2442C>T	p.L814=	Synonymous	11/11	-	3
14-63174751-G-C	c.2442C>G	p.L814=	Synonymous	11/11	-	1
14-63174752-A-T	c.2441T>A	p.L814H	Missense	11/11	-	1
14-63174755-C-T	c.2438G>A	p.R813Q	Missense	11/11	-	2
14-63174754-T-A	c.2439A>T	p.R813=	Synonymous	11/11	-	1
14-63174754-T-C	c.2439A>G	p.R813=	Synonymous	11/11	-	1
14-63174754-T-G	c.2439A>C	p.R813=	Synonymous	11/11	-	1
14-63174756-G-A	c.2437C>T	p.R813*	Nonsense	11/11	-	3
14-63174756-G-T	c.2437C>A	p.R813=	Synonymous	11/11	-	1
14-63174757-C-T	c.2436G>A	p.L812=	Synonymous	11/11	-	1
14-63174764-C-T	c.2429G>A	p.G810E	Missense	11/11	-	1
14-63174765-C-G	c.2428G>C	p.G810R	Missense	11/11	-	1
14-63174765-C-T	c.2428G>A	p.G810R	Missense	11/11	-	4
14-63174769-T-A	c.2424A>T	p.G808=	Synonymous	11/11	-	1
14-63174769-T-C	c.2424A>G	p.G808=	Synonymous	11/11	-	1
14-63174769-T-G	c.2424A>C	p.G808=	Synonymous	11/11	-	1
14-63174770-C-A	c.2423G>T	p.G808V	Missense	11/11	-	1
14-63174770-C-T	c.2423G>A	p.G808E	Missense	11/11	-	3
14-63174774-T-C	c.2419A>G	p.N807D	Missense	11/11	-	1
14-63174776-C-A	c.2417G>T	p.G806V	Missense	11/11	-	1
14-63174776-C-T	c.2417G>A	p.G806E	Missense	11/11	-	5
14-63174777-C-A	c.2416G>T	p.G806*	Nonsense	11/11	-	2
14-63174777-C-G	c.2416G>C	p.G806R	Missense	11/11	-	1
14-63174777-C-T	c.2416G>A	p.G806R	Missense	11/11	-	5
14-63174781-C-T	c.2412G>A	p.K804=	Synonymous	11/11	-	1
14-63174784-C-A	c.2409G>T	p.M803I	Missense	11/11	-	2
14-63174784-C-G	c.2409G>C	p.M803I	Missense	11/11	-	2
14-63174784-C-T	c.2409G>A	p.M803I	Missense	11/11	-	4
14-63174789-T-A	c.2404A>T	p.R802*	Nonsense	11/11	-	1
14-63174789-T-C	c.2404A>G	p.R802G	Missense	11/11	-	1
14-63174791-A-G	c.2402T>C	p.I801T	Missense	11/11	-	1
14-63174792-T-C	c.2401A>G	p.I801V	Missense	11/11	-	1
14-63174794-G-A	c.2399C>T	p.P800L	Missense	11/11	-	1
14-63174795-G-A	c.2398C>T	p.P800S	Missense	11/11	-	1
14-63174796-G-A	c.2397C>T	p.S799=	Synonymous	11/11	-	3
14-63174796-G-C	c.2397C>G	p.S799R	Missense	11/11	-	1
14-63174796-G-T	c.2397C>A	p.S799R	Missense	11/11	-	2
14-63174798-T-G	c.2395A>C	p.S799R	Missense	11/11	-	1
14-63174802-G-A	c.2391C>T	p.V797=	Synonymous	11/11	-	3
14-63174802-G-C	c.2391C>G	p.V797=	Synonymous	11/11	-	2
14-63174802-G-T	c.2391C>A	p.V797=	Synonymous	11/11	-	2
14-63174810-G-A	c.2383C>T	p.L795F	Missense	11/11	-	4
14-63174816-T-TA	c.2376_2377insT	p.K793*	Nonsense	11/11	-	1
14-63174819-G-T	c.2374C>A	p.Q792K	Missense	11/11	-	1
14-63174821-T-C	c.2372A>G	p.D791G	Missense	11/11	-	1
14-63174827-C-A	c.2366G>T	p.G789V	Missense	11/11	-	3
14-63174827-C-T	c.2366G>A	p.G789D	Missense	11/11	-	4
14-63174828-C-A	c.2365G>T	p.G789C	Missense	11/11	-	1
14-63174828-C-T	c.2365G>A	p.G789S	Missense	11/11	-	1
14-63174829-G-A	c.2364C>T	p.G788=	Synonymous	11/11	-	1
14-63174830-C-A	c.2363G>T	p.G788V	Missense	11/11	-	1
14-63174830-C-T	c.2363G>A	p.G788D	Missense	11/11	-	2
14-63174832-G-A	c.2361C>T	p.N787=	Synonymous	11/11	-	6
14-63174833-T-C	c.2360A>G	p.N787S	Missense	11/11	-	2
14-63174835-G-A	c.2358C>T	p.P786=	Synonymous	11/11	-	1
14-63174843-G-T	c.2350C>A	p.L784I	Missense	11/11	-	1
14-63174846-C-T	c.2347G>A	p.E783K	Missense	11/11	-	3
14-63174848-A-G	c.2345T>C	p.M782T	Missense	11/11	-	1
14-63174850-G-A	c.2343C>T	p.A781=	Synonymous	11/11	-	2
14-63174850-G-C	c.2343C>G	p.A781=	Synonymous	11/11	-	2
14-63174850-G-T	c.2343C>A	p.A781=	Synonymous	11/11	-	3
14-63174853-A-G	c.2340T>C	p.D780=	Synonymous	11/11	-	2
14-63174856-ACG-TCA	c.2335_2337delinsTGA	p.R779*	Nonsense	11/11	-	1
14-63174856-A-G	c.2337T>C	p.R779=	Synonymous	11/11	-	1
14-63174859-G-A	c.2334C>T	p.N778=	Synonymous	11/11	-	5
14-63174862-G-C	c.2331C>G	p.N777K	Missense	11/11	-	1
14-63174862-G-T	c.2331C>A	p.N777K	Missense	11/11	-	2
14-63174865-C-G	c.2328G>C	p.Q776H	Missense	11/11	-	2
14-63174870-T-C	c.2323A>G	p.K775E	Missense	11/11	-	2
14-63174872-A-G	c.2321T>C	p.L774P	Missense	11/11	-	3
14-63174875-G-A	c.2318C>T	p.S773F	Missense	11/11	-	2
14-63174878-T-C	c.2315A>G	p.E772G	Missense	11/11	-	1
14-63174879-C-T	c.2314G>A	p.E772K	Missense	11/11	-	1
14-63174884-G-T	c.2309C>A	p.T770N	Missense	11/11	-	1
14-63174889-C-A	c.2304G>T	p.V768=	Synonymous	11/11	-	1
14-63174889-C-G	c.2304G>C	p.V768=	Synonymous	11/11	-	1
14-63174889-C-T	c.2304G>A	p.V768=	Synonymous	11/11	-	4
14-63174892-A-G	c.2301T>C	p.Y767=	Synonymous	11/11	-	1
14-63174898-C-A	c.2295G>T	p.L765=	Synonymous	11/11	-	3
14-63174898-C-G	c.2295G>C	p.L765=	Synonymous	11/11	-	2
14-63174898-C-T	c.2295G>A	p.L765=	Synonymous	11/11	-	2
14-63174900-G-A	c.2293C>T	p.L765=	Synonymous	11/11	-	2
14-63174900-G-C	c.2293C>G	p.L765V	Missense	11/11	-	1
14-63174902-G-A	c.2291C>T	p.S764F	Missense	11/11	-	1
14-63174904-C-A	c.2289G>T	p.T763=	Synonymous	11/11	-	4
14-63174904-C-G	c.2289G>C	p.T763=	Synonymous	11/11	-	3
14-63174904-C-T	c.2289G>A	p.T763=	Synonymous	11/11	-	4
14-63174905-G-A	c.2288C>T	p.T763M	Missense	11/11	-	2
14-63174905-G-T	c.2288C>A	p.T763K	Missense	11/11	-	1
14-63174909-G-A	c.2284C>T	p.Q762*	Nonsense	11/11	-	2
14-63174910-A-T	c.2283T>A	p.I761=	Synonymous	11/11	-	1
14-63174914-G-A	c.2279C>T	p.P760L	Missense	11/11	-	5
14-63174915-G-A	c.2278C>T	p.P760S	Missense	11/11	-	2
14-63174921-T-C	c.2272A>G	p.I758V	Missense	11/11	-	1
14-63174922-C-T	c.2271G>A	p.Q757=	Synonymous	11/11	-	3
14-63174929-A-C	c.2264T>G	p.V755G	Missense	11/11	-	1
14-63174931-A-C	c.2262T>G	p.T754=	Synonymous	11/11	-	1
14-63174931-A-G	c.2262T>C	p.T754=	Synonymous	11/11	-	1
14-63174931-AG-CA	c.2261_2262delinsTG	p.T754M	Missense	11/11	-	1
14-63174931-A-T	c.2262T>A	p.T754=	Synonymous	11/11	-	1
14-63174939-C-T	c.2254G>A	p.V752M	Missense	11/11	-	4
14-63174940-G-A	c.2253C>T	p.S751=	Synonymous	11/11	-	1
14-63174940-G-T	c.2253C>A	p.S751R	Missense	11/11	-	1
14-63174941-C-T	c.2252G>A	p.S751N	Missense	11/11	-	1
14-63174944-G-A	c.2249C>T	p.T750I	Missense	11/11	-	1
14-63174948-C-A	c.2245G>T	p.G749*	Nonsense	11/11	-	1
14-63174948-C-G	c.2245G>C	p.G749R	Missense	11/11	-	1
14-63174948-C-T	c.2245G>A	p.G749R	Missense	11/11	-	8
14-63174949-G-A	c.2244C>T	p.T748=	Synonymous	11/11	-	5
14-63174949-G-C	c.2244C>G	p.T748=	Synonymous	11/11	-	1
14-63174949-G-T	c.2244C>A	p.T748=	Synonymous	11/11	-	1
14-63174950-G-A	c.2243C>T	p.T748I	Missense	11/11	-	3
14-63174954-T-C	c.2239A>G	p.I747V	Missense	11/11	-	1
14-63174955-G-A	c.2238C>T	p.S746=	Synonymous	11/11	-	2
14-63174957-A-G	c.2236T>C	p.S746P	Missense	11/11	-	1
14-63174958-G-A	c.2235C>T	p.A745=	Synonymous	11/11	-	2
14-63174958-G-C	c.2235C>G	p.A745=	Synonymous	11/11	-	2
14-63174958-G-T	c.2235C>A	p.A745=	Synonymous	11/11	-	2
14-63174960-C-A	c.2233G>T	p.A745S	Missense	11/11	-	6
14-63174960-C-G	c.2233G>C	p.A745P	Missense	11/11	-	5
14-63174960-C-T	c.2233G>A	p.A745T	Missense	11/11	-	31
14-63174962-C-T	c.2231G>A	p.G744E	Missense	11/11	-	2
14-63174963-C-T	c.2230G>A	p.G744R	Missense	11/11	-	1
14-63174965-T-A	c.2228A>T	p.N743I	Missense	11/11	-	1
14-63174967-C-A	c.2226G>T	p.Q742H	Missense	11/11	-	1
14-63174967-C-G	c.2226G>C	p.Q742H	Missense	11/11	-	1
14-63174967-C-T	c.2226G>A	p.Q742=	Synonymous	11/11	-	3
14-63174973-G-A	c.2220C>T	p.S740=	Synonymous	11/11	-	1
14-63174974-G-A	c.2219C>T	p.S740F	Missense	11/11	-	4
14-63174977-C-T	c.2216G>A	p.R739H	Missense	11/11	-	1
14-63174979-G-A	c.2214C>T	p.S738=	Synonymous	11/11	-	1
14-63174983-T-A	c.2210A>T	p.E737V	Missense	11/11	-	2
14-63174986-A-G	c.2207T>C	p.V736A	Missense	11/11	-	2
14-63174988-C-T	c.2205G>A	p.Q735=	Synonymous	11/11	-	1
14-63174989-T-C	c.2204A>G	p.Q735R	Missense	11/11	-	1
14-63174990-G-A	c.2203C>T	p.Q735*	Nonsense	11/11	-	1
14-63174993-G-A	c.2200C>T	p.L734F	Missense	11/11	-	1
14-63174996-G-C	c.2197C>G	p.Q733E	Missense	11/11	-	1
14-63175003-C-T	c.2190G>A	p.E730=	Synonymous	11/11	-	3
14-63175005-C-G	c.2188G>C	p.E730Q	Missense	11/11	-	2
14-63175005-C-T	c.2188G>A	p.E730K	Missense	11/11	-	1
14-63175006-A-T	c.2187T>A	p.P729=	Synonymous	11/11	-	1
14-63175007-G-A	c.2186C>T	p.P729L	Missense	11/11	-	1
14-63175008-G-A	c.2185C>T	p.P729S	Missense	11/11	-	2
14-63175008-G-T	c.2185C>A	p.P729T	Missense	11/11	-	1
14-63175011-C-T	c.2182G>A	p.D728N	Missense	11/11	-	1
14-63175013-C-T	c.2180G>A	p.G727D	Missense	11/11	-	1
14-63175015-C-T	c.2178G>A	p.Q726=	Synonymous	11/11	-	1
14-63175022-G-A	c.2171C>T	p.S724L	Missense	11/11	-	1
14-63175023-A-C	c.2170T>G	p.S724A	Missense	11/11	-	4
14-63175026-C-A	c.2167G>T	p.G723C	Missense	11/11	-	2
14-63175026-C-T	c.2167G>A	p.G723S	Missense	11/11	-	2
14-63175027-C-T	c.2166G>A	p.Q722=	Synonymous	11/11	-	3
14-63175029-G-A	c.2164C>T	p.Q722*	Nonsense	11/11	-	4
14-63175029-G-T	c.2164C>A	p.Q722K	Missense	11/11	-	4
14-63175031-T-A	c.2162A>T	p.N721I	Missense	11/11	-	1
14-63175034-C-T	c.2159G>A	p.R720Q	Missense	11/11	-	3
14-63175035-G-A	c.2158C>T	p.R720W	Missense	11/11	-	3
14-63175040-T-A	c.2153A>T	p.E718V	Missense	11/11	-	1
14-63175041-C-A	c.2152G>T	p.E718*	Nonsense	11/11	-	1
14-63175041-C-T	c.2152G>A	p.E718K	Missense	11/11	-	6
14-63175043-T-C	c.2150A>G	p.K717R	Missense	11/11	-	1
14-63175044-T-A	c.2149A>T	p.K717*	Nonsense	11/11	-	1
14-63175050-G-A	c.2143C>T	p.Q715*	Nonsense	11/11	-	2
14-63175053-T-A	c.2140A>T	p.K714*	Nonsense	11/11	-	1
14-63175055-A-C	c.2138T>G	p.F713C	Missense	11/11	-	1
14-63175058-T-C	c.2135A>G	p.K712R	Missense	11/11	-	2
14-63175058-T-G	c.2135A>C	p.K712T	Missense	11/11	-	1
14-63175062-G-T	c.2131C>A	p.Q711K	Missense	11/11	-	4
14-63175068-G-A	c.2125C>T	p.L709F	Missense	11/11	-	3
14-63175071-T-G	c.2122A>C	p.K708Q	Missense	11/11	-	2
14-63175073-C-T	c.2120G>A	p.R707K	Missense	11/11	-	2
14-63175075-G-A	c.2118C>T	p.V706=	Synonymous	11/11	-	3
14-63175079-G-C	c.2114C>G	p.P705R	Missense	11/11	-	1
14-63175080-G-T	c.2113C>A	p.P705T	Missense	11/11	-	1
14-63175081-G-A	c.2112C>T	p.H704=	Synonymous	11/11	-	1
14-63175089-C-A	c.2104G>T	p.V702L	Missense	11/11	-	1
14-63175089-C-G	c.2104G>C	p.V702L	Missense	11/11	-	1
14-63175089-C-T	c.2104G>A	p.V702M	Missense	11/11	-	4
14-63175090-G-A	c.2103C>T	p.P701=	Synonymous	11/11	-	4
14-63175090-G-C	c.2103C>G	p.P701=	Synonymous	11/11	-	1
14-63175090-G-T	c.2103C>A	p.P701=	Synonymous	11/11	-	1
14-63175092-G-A	c.2101C>T	p.P701S	Missense	11/11	-	10
14-63175098-T-C	c.2095A>G	p.S699G	Missense	11/11	-	2
14-63175099-G-A	c.2094C>T	p.L698=	Synonymous	11/11	-	1
14-63175099-G-C	c.2094C>G	p.L698=	Synonymous	11/11	-	1
14-63175099-G-T	c.2094C>A	p.L698=	Synonymous	11/11	-	2
14-63175100-A-T	c.2093T>A	p.L698H	Missense	11/11	-	1
14-63175101-G-A	c.2092C>T	p.L698F	Missense	11/11	-	5
14-63175104-T-A	c.2089A>T	p.T697S	Missense	11/11	-	1
14-63175105-C-A	c.2088G>T	p.V696=	Synonymous	11/11	-	1
14-63175105-C-G	c.2088G>C	p.V696=	Synonymous	11/11	-	1
14-63175105-C-T	c.2088G>A	p.V696=	Synonymous	11/11	-	5
14-63175114-C-A	c.2079G>T	p.K693N	Missense	11/11	-	1
14-63175116-T-G	c.2077A>C	p.K693Q	Missense	11/11	-	1
14-63175117-C-T	c.2076G>A	p.Q692=	Synonymous	11/11	-	2
14-63175118-T-C	c.2075A>G	p.Q692R	Missense	11/11	-	1
14-63175119-G-A	c.2074C>T	p.Q692*	Nonsense	11/11	-	1
14-63175120-CC-AT	c.2072_2073delinsAT	p.R691H	Missense	11/11	-	1
14-63175121-C-A	c.2072G>T	p.R691L	Missense	11/11	-	1
14-63175121-C-T	c.2072G>A	p.R691Q	Missense	11/11	-	2
14-63175120-C-A	c.2073G>T	p.R691=	Synonymous	11/11	-	1
14-63175120-C-G	c.2073G>C	p.R691=	Synonymous	11/11	-	1
14-63175120-C-T	c.2073G>A	p.R691=	Synonymous	11/11	-	1
14-63175122-G-A	c.2071C>T	p.R691W	Missense	11/11	-	10
14-63175122-G-T	c.2071C>A	p.R691=	Synonymous	11/11	-	2
14-63175125-G-A	c.2068C>T	p.L690F	Missense	11/11	-	1
14-63175126-G-C	c.2067C>G	p.R689=	Synonymous	11/11	-	1
14-63175127-C-A	c.2066G>T	p.R689L	Missense	11/11	-	2
14-63175127-C-T	c.2066G>A	p.R689H	Missense	11/11	-	2
14-63175132-C-T	c.2061G>A	p.E687=	Synonymous	11/11	-	1
14-63175134-C-T	c.2059G>A	p.E687K	Missense	11/11	-	3
14-63175135-C-T	c.2058G>A	p.E686=	Synonymous	11/11	-	1
14-63175137-C-T	c.2056G>A	p.E686K	Missense	11/11	-	1
14-63175140-C-A	c.2053G>T	p.E685*	Nonsense	11/11	-	1
14-63175149-C-T	c.2044G>A	p.V682M	Missense	11/11	-	1
14-63175152-C-T	c.2041G>A	p.D681N	Missense	11/11	-	3
14-63175163-C-A	c.2030G>T	p.R677L	Missense	11/11	-	1
14-63175163-C-T	c.2030G>A	p.R677H	Missense	11/11	-	3
14-63175164-G-A	c.2029C>T	p.R677C	Missense	11/11	-	16
14-63175170-T-A	c.2023A>T	p.I675F	Missense	11/11	-	1
14-63175170-T-C	c.2023A>G	p.I675V	Missense	11/11	-	2
14-63177144-T-C	c.2020-1971A>G	-	IntronicSNV	-	10/10	1
14-63177682-C-A	c.2020-2509G>T	-	IntronicSNV	-	10/10	1
14-63177682-C-G	c.2020-2509G>C	-	IntronicSNV	-	10/10	1
14-63178994-T-A	c.2020-3821A>T	-	IntronicSNV	-	10/10	2
14-63178994-T-G	c.2020-3821A>C	-	IntronicSNV	-	10/10	2
14-63179070-T-C	c.2020-3897A>G	-	IntronicSNV	-	10/10	2
14-63179333-C-T	c.2020-4160G>A	-	IntronicSNV	-	10/10	8
14-63179414-G-A	c.2020-4241C>T	-	IntronicSNV	-	10/10	1
14-63179414-G-T	c.2020-4241C>A	-	IntronicSNV	-	10/10	1
14-63179427-A-G	c.2020-4254T>C	-	IntronicSNV	-	10/10	1
14-63179427-A-T	c.2020-4254T>A	-	IntronicSNV	-	10/10	1
14-63179433-C-T	c.2020-4260G>A	-	IntronicSNV	-	10/10	1
14-63179593-T-C	c.2020-4420A>G	-	IntronicSNV	-	10/10	4
14-63182738-A-G	c.2020-7565T>C	-	IntronicSNV	-	10/10	1
14-63207288-T-C	c.2020-32115A>G	-	IntronicSNV	-	10/10	1
14-63230298-G-A	c.2019+16148C>T	-	IntronicSNV	-	10/10	1
14-63238115-T-C	c.2019+8331A>G	-	IntronicSNV	-	10/10	1
14-63242167-GA-G	c.2019+4278del	-	IntronicDeletion	-	10/10	1
14-63246447-C-A	c.2018G>T	p.R673L	Missense	10/11	-	2
14-63246447-C-T	c.2018G>A	p.R673Q	Missense	10/11	-	1
14-63246448-G-A	c.2017C>T	p.R673W	Missense	10/11	-	8
14-63246448-G-T	c.2017C>A	p.R673=	Synonymous	10/11	-	1
14-63246452-C-T	c.2013G>A	p.R671=	Synonymous	10/11	-	3
14-63246453-C-T	c.2012G>A	p.R671K	Missense	10/11	-	1
14-63246454-T-A	c.2011A>T	p.R671W	Missense	10/11	-	1
14-63246455-C-A	c.2010G>T	p.L670=	Synonymous	10/11	-	1
14-63246455-C-G	c.2010G>C	p.L670=	Synonymous	10/11	-	3
14-63246455-C-T	c.2010G>A	p.L670=	Synonymous	10/11	-	1
14-63246457-G-A	c.2008C>T	p.L670=	Synonymous	10/11	-	1
14-63246466-T-C	c.1999A>G	p.T667A	Missense	10/11	-	1
14-63246468-AG-CA	c.1996_1997delinsTG	p.L666C	Missense	10/11	-	1
14-63246469-G-A	c.1996C>T	p.L666F	Missense	10/11	-	1
14-63246472-T-G	c.1993A>C	p.T665P	Missense	10/11	-	1
14-63246475-G-A	c.1990C>T	p.L664F	Missense	10/11	-	1
14-63246477-T-G	c.1988A>C	p.N663T	Missense	10/11	-	1
14-63246479-C-T	c.1986G>A	p.R662=	Synonymous	10/11	-	3
14-63246481-T-G	c.1984A>C	p.R662=	Synonymous	10/11	-	1
14-63246483-G-A	c.1982C>T	p.S661L	Missense	10/11	-	1
14-63246483-G-C	c.1982C>G	p.S661*	Nonsense	10/11	-	1
14-63246483-G-T	c.1982C>A	p.S661*	Nonsense	10/11	-	1
14-63246485-G-A	c.1980C>T	p.F660=	Synonymous	10/11	-	3
14-63246489-G-C	c.1976C>G	p.S659C	Missense	10/11	-	1
14-63246489-G-T	c.1976C>A	p.S659Y	Missense	10/11	-	1
14-63246493-T-A	c.1972A>T	p.N658Y	Missense	10/11	-	1
14-63246495-G-C	c.1970C>G	p.A657G	Missense	10/11	-	1
14-63246498-A-C	c.1967T>G	p.F656C	Missense	10/11	-	4
14-63246500-A-C	c.1965T>G	p.A655=	Synonymous	10/11	-	1
14-63246500-A-G	c.1965T>C	p.A655=	Synonymous	10/11	-	1
14-63246500-A-T	c.1965T>A	p.A655=	Synonymous	10/11	-	1
14-63246504-G-A	c.1961C>T	p.T654I	Missense	10/11	-	2
14-63246505-T-C	c.1960A>G	p.T654A	Missense	10/11	-	2
14-63246508-A-C	c.1957T>G	p.Y653D	Missense	10/11	-	1
14-63246514-C-A	c.1951G>T	p.D651Y	Missense	10/11	-	1
14-63246515-C-A	c.1950G>T	p.L650=	Synonymous	10/11	-	1
14-63246515-C-G	c.1950G>C	p.L650=	Synonymous	10/11	-	1
14-63246515-C-T	c.1950G>A	p.L650=	Synonymous	10/11	-	1
14-63246517-G-A	c.1948C>T	p.L650=	Synonymous	10/11	-	2
14-63246517-G-T	c.1948C>A	p.L650M	Missense	10/11	-	1
14-63246518-G-A	c.1947C>T	p.V649=	Synonymous	10/11	-	3
14-63246523-T-G	c.1942A>C	p.K648Q	Missense	10/11	-	1
14-63246526-G-A	c.1939C>T	p.L647F	Missense	10/11	-	4
14-63246527-C-A	c.1938G>T	p.L646F	Missense	10/11	-	3
14-63246527-C-G	c.1938G>C	p.L646F	Missense	10/11	-	1
14-63246532-C-T	c.1933G>A	p.A645T	Missense	10/11	-	1
14-63246534-T-C	c.1931A>G	p.E644G	Missense	10/11	-	5
14-63246535-C-A	c.1930G>T	p.E644*	Nonsense	10/11	-	8
14-63246535-C-T	c.1930G>A	p.E644K	Missense	10/11	-	2
14-63246537-C-T	c.1928G>A	p.R643Q	Missense	10/11	-	4
14-63246538-G-A	c.1927C>T	p.R643W	Missense	10/11	-	2
14-63246542-G-T	c.1923C>A	p.I641=	Synonymous	10/11	-	2
14-63246548-G-C	c.1917C>G	p.H639Q	Missense	10/11	-	2
14-63246548-G-T	c.1917C>A	p.H639Q	Missense	10/11	-	4
14-63246558-C-G	c.1907G>C	p.C636S	Missense	10/11	-	2
14-63246559-A-T	c.1906T>A	p.C636S	Missense	10/11	-	1
14-63246564-G-A	c.1901C>T	p.T634M	Missense	10/11	-	2
14-63246566-C-A	c.1899G>T	p.L633=	Synonymous	10/11	-	1
14-63246566-C-G	c.1899G>C	p.L633=	Synonymous	10/11	-	1
14-63246566-C-T	c.1899G>A	p.L633=	Synonymous	10/11	-	1
14-63246568-G-A	c.1897C>T	p.L633=	Synonymous	10/11	-	1
14-63246573-C-T	c.1892G>A	p.R631Q	Missense	10/11	-	1
14-63246574-G-A	c.1891C>T	p.R631W	Missense	10/11	-	1
14-63246579-T-C	c.1886A>G	p.N629S	UnclassifiedSNV	10/11	-	2
14-63246581-C-T	c.1884G>A	p.A628=	Synonymous	10/11	-	1
14-63246582-G-A	c.1883C>T	p.A628V	Missense	10/11	-	6
14-63246583-C-A	c.1882G>T	p.A628S	Missense	10/11	-	1
14-63246588-G-A	c.1877C>T	p.A626V	Missense	10/11	-	1
14-63246590-A-G	c.1875T>C	p.H625=	Synonymous	10/11	-	1
14-63246591-T-C	c.1874A>G	p.H625R	Missense	10/11	-	1
14-63246594-G-A	c.1871C>T	p.A624V	Missense	10/11	-	1
14-63246594-G-C	c.1871C>G	p.A624G	Missense	10/11	-	1
14-63246596-A-T	c.1869T>A	p.L623=	Synonymous	10/11	-	1
14-63246595-C-CA	c.1869dup	p.A624Cfs*14	Frameshift	10/11	-	2
14-63246599-G-A	c.1866C>T	p.T622=	Synonymous	10/11	-	4
14-63246600-G-A	c.1865C>T	p.T622I	Missense	10/11	-	1
14-63246602-G-A	c.1863C>T	p.T621=	Synonymous	10/11	-	1
14-63246607-C-T	c.1858G>A	p.E620K	Missense	10/11	-	11
14-63246608-C-A	c.1857G>T	p.K619N	Missense	10/11	-	1
14-63246608-C-T	c.1857G>A	p.K619=	Synonymous	10/11	-	1
14-63246610-T-A	c.1855A>T	p.K619*	Nonsense	10/11	-	1
14-63246611-C-T	c.1854G>A	p.W618*	Nonsense	10/11	-	1
14-63246612-C-T	c.1853G>A	p.W618*	Nonsense	10/11	-	1
14-63246614-G-A	c.1851C>T	p.F617=	Synonymous	10/11	-	2
14-63246617-G-A	c.1848C>T	p.I616=	Synonymous	10/11	-	2
14-63246617-G-C	c.1848C>G	p.I616M	Missense	10/11	-	1
14-63246617-G-T	c.1848C>A	p.I616=	Synonymous	10/11	-	1
14-63246618-A-T	c.1847T>A	p.I616N	Missense	10/11	-	2
14-63246619-T-A	c.1846A>T	p.I616F	Missense	10/11	-	2
14-63246622-C-T	c.1843G>A	p.D615N	Missense	10/11	-	1
14-63246624-C-G	c.1841G>C	p.G614A	Missense	10/11	-	1
14-63246624-C-T	c.1841G>A	p.G614E	Missense	10/11	-	6
14-63246625-C-A	c.1840G>T	p.G614*	Nonsense	10/11	-	1
14-63246630-A-G	c.1835T>C	p.V612A	Missense	10/11	-	2
14-63246632-A-G	c.1833T>C	p.D611=	Synonymous	10/11	-	1
14-63246634-C-T	c.1831G>A	p.D611N	Missense	10/11	-	1
14-63246637-C-T	c.1828G>A	p.G610S	Missense	10/11	-	3
14-63246640-T-G	c.1825A>C	p.K609Q	Missense	10/11	-	1
14-63246641-C-A	c.1824G>T	p.G608=	Synonymous	10/11	-	2
14-63246641-C-G	c.1824G>C	p.G608=	Synonymous	10/11	-	2
14-63246641-C-T	c.1824G>A	p.G608=	Synonymous	10/11	-	7
14-63248300-G-A	c.1823-1658C>T	-	IntronicSNV	-	9/10	1
14-63248300-G-T	c.1823-1658C>A	-	IntronicSNV	-	9/10	1
14-63260388-C-T	c.1822+8659G>A	-	IntronicSNV	-	9/10	1
14-63264114-C-T	c.1822+4933G>A	-	IntronicSNV	-	9/10	1
14-63265898-G-T	c.1822+3149C>A	-	IntronicSNV	-	9/10	1
14-63268894-A-C	c.1822+153T>G	-	IntronicSNV	-	9/10	1
14-63269047-C-A	c.1822G>T	p.G608W	Missense	9/11	-	1
14-63269052-A-G	c.1817T>C	p.I606T	Missense	9/11	-	2
14-63269055-G-C	c.1814C>G	p.A605G	Missense	9/11	-	2
14-63269056-C-T	c.1813G>A	p.A605T	Missense	9/11	-	3
14-63269057-CAC-GAT	c.1810_1812delinsATC	p.V604I	Missense	9/11	-	1
14-63269060-C-T	c.1809G>A	p.V603=	Synonymous	9/11	-	1
14-63269063-C-A	c.1806G>T	p.E602D	Missense	9/11	-	3
14-63269063-C-G	c.1806G>C	p.E602D	Missense	9/11	-	2
14-63269065-C-T	c.1804G>A	p.E602K	Missense	9/11	-	5
14-63269072-C-T	c.1797G>A	p.Q599=	Synonymous	9/11	-	1
14-63269075-G-A	c.1794C>T	p.I598=	Synonymous	9/11	-	1
14-63269075-G-T	c.1794C>A	p.I598=	Synonymous	9/11	-	4
14-63269083-C-T	c.1786G>A	p.E596K	Missense	9/11	-	1
14-63269088-G-A	c.1781C>T	p.S594F	Missense	9/11	-	3
14-63269091-C-T	c.1778G>A	p.G593E	Missense	9/11	-	3
14-63269093-TG-AA	c.1775_1776delinsTT	p.S592F	Missense	9/11	-	1
14-63269096-C-A	c.1773G>T	p.V591=	Synonymous	9/11	-	1
14-63269096-C-G	c.1773G>C	p.V591=	Synonymous	9/11	-	1
14-63269096-C-T	c.1773G>A	p.V591=	Synonymous	9/11	-	1
14-63269104-A-T	c.1765T>A	p.F589I	Missense	9/11	-	1
14-63269105-G-A	c.1764C>T	p.C588=	Synonymous	9/11	-	2
14-63269108-G-A	c.1761C>T	p.L587=	Synonymous	9/11	-	2
14-63269108-G-C	c.1761C>G	p.L587=	Synonymous	9/11	-	2
14-63269108-G-T	c.1761C>A	p.L587=	Synonymous	9/11	-	2
14-63269116-C-T	c.1753G>A	p.D585N	Missense	9/11	-	3
14-63269121-CT-AA	c.1747_1748delinsTT	p.S583F	Missense	9/11	-	4
14-63269125-C-T	c.1744G>A	p.E582K	Missense	9/11	-	3
14-63269127-C-A	c.1742G>T	p.G581V	Missense	9/11	-	4
14-63269128-C-G	c.1741G>C	p.G581R	Missense	9/11	-	1
14-63269128-C-T	c.1741G>A	p.G581R	Missense	9/11	-	1
14-63269129-A-C	c.1740T>G	p.A580=	Synonymous	9/11	-	1
14-63269129-A-G	c.1740T>C	p.A580=	Synonymous	9/11	-	1
14-63269129-A-T	c.1740T>A	p.A580=	Synonymous	9/11	-	1
14-63269132-A-C	c.1737T>G	p.H579Q	Missense	9/11	-	4
14-63269132-A-T	c.1737T>A	p.H579Q	Missense	9/11	-	3
14-63269135-G-A	c.1734C>T	p.Y578=	Synonymous	9/11	-	3
14-63269139-A-C	c.1730T>G	p.I577S	Missense	9/11	-	1
14-63269146-C-A	c.1723G>T	p.D575Y	Missense	9/11	-	1
14-63269146-C-T	c.1723G>A	p.D575N	Missense	9/11	-	4
14-63269148-C-A	c.1721G>T	p.G574V	Missense	9/11	-	2
14-63269151-G-A	c.1718C>T	p.P573L	Missense	9/11	-	2
14-63269154-AG-A	c.1715del	p.A572Vfs*36	Frameshift	9/11	-	1
14-63269154-G-C	c.1715C>G	p.A572G	Missense	9/11	-	1
14-63269155-C-A	c.1714G>T	p.A572S	Missense	9/11	-	1
14-63269155-C-G	c.1714G>C	p.A572P	Missense	9/11	-	1
14-63269157-C-A	c.1712G>T	p.C571F	Missense	9/11	-	3
14-63269157-C-G	c.1712G>C	p.C571S	Missense	9/11	-	1
14-63269158-A-T	c.1711T>A	p.C571S	Missense	9/11	-	1
14-63269159-G-A	c.1710C>T	p.H570=	Synonymous	9/11	-	1
14-63269161-G-A	c.1708C>T	p.H570Y	Missense	9/11	-	1
14-63269166-G-A	c.1703C>T	p.T568I	Missense	9/11	-	2
14-63269167-T-C	c.1702A>G	p.T568A	Missense	9/11	-	2
14-63269170-G-A	c.1699C>T	p.Q567*	Nonsense	9/11	-	1
14-63269171-G-A	c.1698C>T	p.F566=	Synonymous	9/11	-	6
14-63269173-A-T	c.1696T>A	p.F566I	Missense	9/11	-	1
14-63269176-C-T	c.1693G>A	p.E565K	Missense	9/11	-	2
14-63269177-T-A	c.1692A>T	p.V564=	Synonymous	9/11	-	1
14-63269177-T-C	c.1692A>G	p.V564=	Synonymous	9/11	-	1
14-63269177-T-G	c.1692A>C	p.V564=	Synonymous	9/11	-	1
14-63269179-C-A	c.1690G>T	p.V564L	Missense	9/11	-	1
14-63269180-C-A	c.1689G>T	p.A563=	Synonymous	9/11	-	1
14-63269180-C-G	c.1689G>C	p.A563=	Synonymous	9/11	-	1
14-63269180-C-T	c.1689G>A	p.A563=	Synonymous	9/11	-	2
14-63269181-G-A	c.1688C>T	p.A563V	Missense	9/11	-	3
14-63269187-G-A	c.1682C>T	p.A561V	Missense	9/11	-	3
14-63269188-C-T	c.1681G>A	p.A561T	Missense	9/11	-	2
14-63269189-G-A	c.1680C>T	p.R560=	Synonymous	9/11	-	2
14-63269189-G-C	c.1680C>G	p.R560=	Synonymous	9/11	-	1
14-63269189-G-T	c.1680C>A	p.R560=	Synonymous	9/11	-	2
14-63269190-C-T	c.1679G>A	p.R560H	Missense	9/11	-	3
14-63269191-G-A	c.1678C>T	p.R560C	Missense	9/11	-	1
14-63269191-G-T	c.1678C>A	p.R560S	Missense	9/11	-	1
14-63269193-A-C	c.1676T>G	p.L559R	Missense	9/11	-	3
14-63269194-G-A	c.1675C>T	p.L559=	Synonymous	9/11	-	1
14-63269198-CCC-GTT	c.1669_1671delinsAAC	p.G557N	Missense	9/11	-	1
14-63269198-C-T	c.1671G>A	p.G557=	Synonymous	9/11	-	1
14-63269199-C-T	c.1670G>A	p.G557E	Missense	9/11	-	1
14-63269200-C-T	c.1669G>A	p.G557R	Missense	9/11	-	1
14-63269203-C-T	c.1666G>A	p.D556N	Missense	9/11	-	8
14-63269205-C-T	c.1664G>A	p.S555N	Missense	9/11	-	1
14-63269208-G-A	c.1661C>T	p.A554V	Missense	9/11	-	1
14-63269208-G-T	c.1661C>A	p.A554D	Missense	9/11	-	1
14-63269210-C-T	c.1659G>A	p.L553=	Synonymous	9/11	-	1
14-63269211-A-G	c.1658T>C	p.L553S	Missense	9/11	-	2
14-63269214-C-A	c.1655G>T	p.R552L	Missense	9/11	-	4
14-63269214-C-T	c.1655G>A	p.R552Q	Missense	9/11	-	4
14-63269215-G-A	c.1654C>T	p.R552*	Nonsense	9/11	-	8
14-63269216-A-G	c.1653T>C	p.F551=	Synonymous	9/11	-	2
14-63269219-A-C	c.1650T>G	p.A550=	Synonymous	9/11	-	2
14-63269220-G-A	c.1649C>T	p.A550V	Missense	9/11	-	1
14-63269221-C-T	c.1648G>A	p.A550T	Missense	9/11	-	2
14-63269224-G-A	c.1645C>T	p.P549S	Missense	9/11	-	7
14-63269224-G-T	c.1645C>A	p.P549T	Missense	9/11	-	1
14-63269228-T-A	c.1641A>T	p.E547D	Missense	9/11	-	1
14-63269228-T-C	c.1641A>G	p.E547=	Synonymous	9/11	-	1
14-63269228-T-G	c.1641A>C	p.E547D	Missense	9/11	-	1
14-63269230-C-T	c.1639G>A	p.E547K	Missense	9/11	-	1
14-63269231-A-C	c.1638T>G	p.N546K	Missense	9/11	-	1
14-63269231-A-T	c.1638T>A	p.N546K	Missense	9/11	-	1
14-63269238-A-C	c.1631T>G	p.V544G	Missense	9/11	-	2
14-63269238-A-T	c.1631T>A	p.V544D	Missense	9/11	-	1
14-63269240-C-T	c.1629G>A	p.K543=	Synonymous	9/11	-	3
14-63269241-T-A	c.1628A>T	p.K543M	Missense	9/11	-	1
14-63269243-C-G	c.1626G>C	p.R542=	Synonymous	9/11	-	2
14-63269244-C-A	c.1625G>T	p.R542L	Missense	9/11	-	1
14-63269244-C-T	c.1625G>A	p.R542Q	Missense	9/11	-	4
14-63269243-C-A	c.1626G>T	p.R542=	Synonymous	9/11	-	1
14-63269243-C-T	c.1626G>A	p.R542=	Synonymous	9/11	-	1
14-63269245-G-A	c.1624C>T	p.R542W	Missense	9/11	-	3
14-63269245-G-T	c.1624C>A	p.R542=	Synonymous	9/11	-	1
14-63269244-C-CG	c.1624dup	p.R542Pfs*5	Frameshift	9/11	-	1
14-63269251-G-T	c.1618C>A	p.L540I	Missense	9/11	-	1
14-63269252-A-C	c.1617T>G	p.H539Q	Missense	9/11	-	1
14-63269253-T-G	c.1616A>C	p.H539P	Missense	9/11	-	1
14-63269259-C-T	c.1610G>A	p.C537Y	Missense	9/11	-	1
14-63269261-G-A	c.1608C>T	p.I536=	Synonymous	9/11	-	2
14-63269270-T-C	c.1599A>G	p.R533=	Synonymous	9/11	-	1
14-63269273-C-T	c.1596G>A	p.M532I	Missense	9/11	-	2
14-63269274-AT-CA	c.1594_1595delinsTG	p.M532W	Missense	9/11	-	1
14-63269276-G-C	c.1593C>G	p.D531E	Missense	9/11	-	1
14-63269276-G-T	c.1593C>A	p.D531E	Missense	9/11	-	1
14-63269277-T-C	c.1592A>G	p.D531G	Missense	9/11	-	2
14-63269278-C-T	c.1591G>A	p.D531N	Missense	9/11	-	6
14-63269279-C-A	c.1590G>T	p.K530N	Missense	9/11	-	1
14-63269279-C-T	c.1590G>A	p.K530=	Synonymous	9/11	-	3
14-63269283-G-A	c.1586C>T	p.P529L	Missense	9/11	-	4
14-63269290-T-A	c.1579A>T	p.I527F	Missense	9/11	-	3
14-63269296-G-C	c.1573C>G	p.L525V	Missense	9/11	-	1
14-63269298-A-G	c.1571T>C	p.V524A	Missense	9/11	-	1
14-63269317-T-C	c.1570-18A>G	-	IntronicSNV	-	8/10	9
14-63275552-A-T	c.1570-6253T>A	-	IntronicSNV	-	8/10	1
14-63288002-C-T	c.1570-18703G>A	-	IntronicSNV	-	8/10	1
14-63291663-T-C	c.1570-22364A>G	-	IntronicSNV	-	8/10	1
14-63291663-T-G	c.1570-22364A>C	-	IntronicSNV	-	8/10	1
14-63301357-T-C	c.1569+15014A>G	-	IntronicSNV	-	8/10	1
14-63305145-A-G	c.1569+11226T>C	-	IntronicSNV	-	8/10	1
14-63310254-T-C	c.1569+6117A>G	-	IntronicSNV	-	8/10	1
14-63310623-A-G	c.1569+5748T>C	-	IntronicSNV	-	8/10	1
14-63313617-C-T	c.1569+2754G>A	-	IntronicSNV	-	8/10	1
14-63316371-C-A	c.1569G>T	p.K523N	Missense	8/11	-	1
14-63316371-C-G	c.1569G>C	p.K523N	Missense	8/11	-	1
14-63316376-C-T	c.1564G>A	p.E522K	Missense	8/11	-	2
14-63316382-C-T	c.1558G>A	p.D520N	Missense	8/11	-	7
14-63316389-T-C	c.1551A>G	p.K517=	Synonymous	8/11	-	2
14-63316392-T-C	c.1548A>G	p.S516=	Synonymous	8/11	-	1
14-63316396-A-G	c.1544T>C	p.M515T	Missense	8/11	-	1
14-63316401-C-T	c.1539G>A	p.W513*	Nonsense	8/11	-	4
14-63316402-C-T	c.1538G>A	p.W513*	Nonsense	8/11	-	2
14-63316403-A-G	c.1537T>C	p.W513R	Missense	8/11	-	1
14-63316403-A-T	c.1537T>A	p.W513R	Missense	8/11	-	1
14-63316406-T-G	c.1534A>C	p.T512P	Missense	8/11	-	1
14-63316408-G-C	c.1532C>G	p.S511*	Nonsense	8/11	-	1
14-63316410-G-A	c.1530C>T	p.V510=	Synonymous	8/11	-	1
14-63316419-A-C	c.1521T>G	p.D507E	Missense	8/11	-	4
14-63316419-A-T	c.1521T>A	p.D507E	Missense	8/11	-	5
14-63316421-C-T	c.1519G>A	p.D507N	Missense	8/11	-	6
14-63316424-T-C	c.1516A>G	p.M506V	Missense	8/11	-	1
14-63316427-C-T	c.1513G>A	p.V505I	Missense	8/11	-	1
14-63316429-C-G	c.1511G>C	p.R504P	Missense	8/11	-	2
14-63316430-G-A	c.1510C>T	p.R504*	Nonsense	8/11	-	2
14-63316439-G-A	c.1501C>T	p.L501F	Missense	8/11	-	6
14-63316440-G-A	c.1500C>T	p.G500=	Synonymous	8/11	-	4
14-63316440-G-C	c.1500C>G	p.G500=	Synonymous	8/11	-	1
14-63316440-G-GTCTT	c.1499_1500insAAGA	p.L501Rfs*3	Frameshift	8/11	-	1
14-63316440-G-T	c.1500C>A	p.G500=	Synonymous	8/11	-	2
14-63316441-C-G	c.1499G>C	p.G500A	Missense	8/11	-	1
14-63316448-G-A	c.1492C>T	p.P498S	Missense	8/11	-	2
14-63316449-GAC-CAT	c.1489_1491delinsATG	p.V497M	Missense	8/11	-	1
14-63316454-G-A	c.1486C>T	p.Q496*	Nonsense	8/11	-	2
14-63316457-A-G	c.1483T>C	p.Y495H	Missense	8/11	-	1
14-63316460-G-C	c.1480C>G	p.L494V	Missense	8/11	-	2
14-63316461-T-C	c.1479A>G	p.K493=	Synonymous	8/11	-	1
14-63316464-T-A	c.1476A>T	p.L492=	Synonymous	8/11	-	2
14-63316464-T-C	c.1476A>G	p.L492=	Synonymous	8/11	-	4
14-63316464-T-G	c.1476A>C	p.L492=	Synonymous	8/11	-	2
14-63316465-A-T	c.1475T>A	p.L492Q	Missense	8/11	-	6
14-63316466-G-A	c.1474C>T	p.L492=	Synonymous	8/11	-	3
14-63316467-G-A	c.1473C>T	p.F491=	Synonymous	8/11	-	5
14-63316474-C-A	c.1466G>T	p.R489L	Missense	8/11	-	2
14-63316474-C-T	c.1466G>A	p.R489Q	Missense	8/11	-	1
14-63316475-G-A	c.1465C>T	p.R489W	Missense	8/11	-	5
14-63316476-TAC-CAT	c.1462_1464delinsATG	p.V488M	Missense	8/11	-	1
14-63316483-T-C	c.1457A>G	p.N486S	Missense	8/11	-	1
14-63316486-A-G	c.1454T>C	p.L485P	Missense	8/11	-	1
14-63316490-T-A	c.1450A>T	p.M484L	Missense	8/11	-	1
14-63316491-C-A	c.1449G>T	p.E483D	Missense	8/11	-	1
14-63316493-C-T	c.1447G>A	p.E483K	Missense	8/11	-	1
14-63316494-A-C	c.1446T>G	p.H482Q	Missense	8/11	-	3
14-63316494-A-T	c.1446T>A	p.H482Q	Missense	8/11	-	2
14-63316495-T-A	c.1445A>T	p.H482L	Missense	8/11	-	1
14-63316495-T-G	c.1445A>C	p.H482P	Missense	8/11	-	1
14-63316496-G-A	c.1444C>T	p.H482Y	Missense	8/11	-	3
14-63316501-C-T	c.1439G>A	p.R480Q	Missense	8/11	-	8
14-63316502-G-A	c.1438C>T	p.R480*	Nonsense	8/11	-	2
14-63316502-G-T	c.1438C>A	p.R480=	Synonymous	8/11	-	1
14-63316505-T-C	c.1435A>G	p.N479D	Missense	8/11	-	2
14-63316508-T-C	c.1432A>G	p.T478A	Missense	8/11	-	1
14-63316512-G-A	c.1428C>T	p.A476=	Synonymous	8/11	-	3
14-63316512-G-C	c.1428C>G	p.A476=	Synonymous	8/11	-	1
14-63316512-G-T	c.1428C>A	p.A476=	Synonymous	8/11	-	1
14-63316513-G-C	c.1427C>G	p.A476G	Missense	8/11	-	1
14-63316518-CAT-ACA	c.1420_1422delinsTGT	p.M474C	Missense	8/11	-	1
14-63316520-T-C	c.1420A>G	p.M474V	Missense	8/11	-	1
14-63316525-T-C	c.1415A>G	p.Q472R	Missense	8/11	-	1
14-63316527-G-A	c.1413C>T	p.F471=	Synonymous	8/11	-	6
14-63316538-T-C	c.1402A>G	p.T468A	Missense	8/11	-	1
14-63316538-T-G	c.1402A>C	p.T468P	Missense	8/11	-	1
14-63316540-A-G	c.1400T>C	p.V467A	Missense	8/11	-	2
14-63316546-C-T	c.1394G>A	p.G465E	Missense	8/11	-	2
14-63316547-C-T	c.1393G>A	p.G465R	Missense	8/11	-	3
14-63316551-A-C	c.1389T>G	p.I463M	Missense	8/11	-	1
14-63316552-A-G	c.1388T>C	p.I463T	Missense	8/11	-	1
14-63316554-A-C	c.1386T>G	p.T462=	Synonymous	8/11	-	2
14-63316554-A-G	c.1386T>C	p.T462=	Synonymous	8/11	-	3
14-63316554-A-T	c.1386T>A	p.T462=	Synonymous	8/11	-	2
14-63316555-G-T	c.1385C>A	p.T462N	Missense	8/11	-	1
14-63316558-G-T	c.1382C>A	p.A461E	Missense	8/11	-	1
14-63316564-A-T	c.1376T>A	p.L459H	Missense	8/11	-	1
14-63316565-G-A	c.1375C>T	p.L459F	Missense	8/11	-	4
14-63316565-G-C	c.1375C>G	p.L459V	Missense	8/11	-	2
14-63316567-A-C	c.1373T>G	p.L458R	Missense	8/11	-	1
14-63316568-G-A	c.1372C>T	p.L458F	Missense	8/11	-	2
14-63316677-C-A	c.1370-107G>T	-	IntronicSNV	-	7/10	1
14-63316746-T-C	c.1370-176A>G	-	IntronicSNV	-	7/10	1
14-63320212-A-G	c.1370-3642T>C	-	IntronicSNV	-	7/10	1
14-63322151-C-T	c.1370-5581G>A	-	IntronicSNV	-	7/10	1
14-63344807-G-A	c.1370-28237C>T	-	IntronicSNV	-	7/10	1
14-63344807-G-C	c.1370-28237C>G	-	IntronicSNV	-	7/10	1
14-63344807-G-T	c.1370-28237C>A	-	IntronicSNV	-	7/10	1
14-63353479-G-A	c.1370-36909C>T	-	IntronicSNV	-	7/10	2
14-63353479-G-C	c.1370-36909C>G	-	IntronicSNV	-	7/10	2
14-63356253-T-C	c.1370-39683A>G	-	IntronicSNV	-	7/10	2
14-63361863-G-C	c.1370-45293C>G	-	IntronicSNV	-	7/10	1
14-63361863-G-T	c.1370-45293C>A	-	IntronicSNV	-	7/10	1
14-63365094-T-G	c.1370-48524A>C	-	IntronicSNV	-	7/10	1
14-63374605-T-C	c.1369+42246A>G	-	IntronicSNV	-	7/10	1
14-63375059-A-G	c.1369+41792T>C	-	IntronicSNV	-	7/10	1
14-63379155-G-T	c.1369+37696C>A	-	IntronicSNV	-	7/10	1
14-63380460-G-A	c.1369+36391C>T	-	IntronicSNV	-	7/10	1
14-63382434-A-G	c.1369+34417T>C	-	IntronicSNV	-	7/10	1
14-63388241-C-T	c.1369+28610G>A	-	IntronicSNV	-	7/10	1
14-63388909-AT-A	c.1369+27941del	-	IntronicDeletion	-	7/10	1
14-63399425-A-C	c.1369+17426T>G	-	IntronicSNV	-	7/10	1
14-63399424-TA-T	c.1369+17426del	-	IntronicDeletion	-	7/10	1
14-63402456-T-C	c.1369+14395A>G	-	IntronicSNV	-	7/10	1
14-63404216-T-C	c.1369+12635A>G	-	IntronicSNV	-	7/10	1
14-63406429-G-A	c.1369+10422C>T	-	IntronicSNV	-	7/10	1
14-63415479-T-A	c.1369+1372A>T	-	IntronicSNV	-	7/10	1
14-63416269-G-T	c.1369+582C>A	-	IntronicSNV	-	7/10	1
14-63416693-AT-A	c.1369+157del	-	IntronicDeletion	-	7/10	1
14-63416708-G-T	c.1369+143C>A	-	IntronicSNV	-	7/10	1
14-63416715-T-TA	c.1369+135dup	-	IntronicInsertion	-	7/10	2
14-63416772-C-T	c.1369+79G>A	-	IntronicSNV	-	7/10	1
14-63416790-G-A	c.1369+61C>T	-	IntronicSNV	-	7/10	1
14-63416806-A-G	c.1369+45T>C	-	IntronicSNV	-	7/10	2
14-63416857-C-T	c.1363G>A	p.V455I	Missense	7/11	-	2
14-63416858-C-A	c.1362G>T	p.M454I	Missense	7/11	-	1
14-63416858-C-G	c.1362G>C	p.M454I	Missense	7/11	-	1
14-63416858-C-T	c.1362G>A	p.M454I	Missense	7/11	-	1
14-63416862-A-T	c.1358T>A	p.M453K	Missense	7/11	-	3
14-63416864-C-A	c.1356G>T	p.M452I	Missense	7/11	-	2
14-63416864-C-G	c.1356G>C	p.M452I	Missense	7/11	-	2
14-63416864-C-T	c.1356G>A	p.M452I	Missense	7/11	-	2
14-63416870-C-G	c.1350G>C	p.V450=	Synonymous	7/11	-	2
14-63416872-C-A	c.1348G>T	p.V450L	Missense	7/11	-	7
14-63416872-C-G	c.1348G>C	p.V450L	Missense	7/11	-	4
14-63416872-C-T	c.1348G>A	p.V450M	Missense	7/11	-	2
14-63416873-C-A	c.1347G>T	p.S449=	Synonymous	7/11	-	3
14-63416873-C-G	c.1347G>C	p.S449=	Synonymous	7/11	-	3
14-63416873-C-T	c.1347G>A	p.S449=	Synonymous	7/11	-	4
14-63416874-G-A	c.1346C>T	p.S449L	Missense	7/11	-	11
14-63416881-T-C	c.1339A>G	p.M447V	Missense	7/11	-	1
14-63416882-C-A	c.1338G>T	p.K446N	Missense	7/11	-	2
14-63416882-C-G	c.1338G>C	p.K446N	Missense	7/11	-	2
14-63416882-C-T	c.1338G>A	p.K446=	Synonymous	7/11	-	2
14-63416886-T-A	c.1334A>T	p.E445V	Missense	7/11	-	1
14-63416886-T-C	c.1334A>G	p.E445G	Missense	7/11	-	1
14-63416895-G-C	c.1325C>G	p.T442R	Missense	7/11	-	2
14-63416898-G-A	c.1322C>T	p.T441I	Missense	7/11	-	1
14-63416899-T-A	c.1321A>T	p.T441S	Missense	7/11	-	1
14-63416902-G-A	c.1318C>T	p.P440S	Missense	7/11	-	2
14-63416904-G-A	c.1316C>T	p.A439V	Missense	7/11	-	1
14-63416905-C-T	c.1315G>A	p.A439T	Missense	7/11	-	1
14-63416907-A-T	c.1313T>A	p.I438K	Missense	7/11	-	1
14-63416913-C-A	c.1307G>T	p.G436V	Missense	7/11	-	1
14-63416913-C-G	c.1307G>C	p.G436A	Missense	7/11	-	1
14-63416913-C-T	c.1307G>A	p.G436E	Missense	7/11	-	7
14-63416924-G-A	c.1296C>T	p.T432=	Synonymous	7/11	-	1
14-63416926-T-C	c.1294A>G	p.T432A	Missense	7/11	-	1
14-63416932-G-C	c.1288C>G	p.L430V	Missense	7/11	-	1
14-63416937-G-A	c.1283C>T	p.T428I	Missense	7/11	-	2
14-63416939-C-A	c.1281G>T	p.M427I	Missense	7/11	-	1
14-63416939-C-T	c.1281G>A	p.M427I	Missense	7/11	-	1
14-63416940-A-G	c.1280T>C	p.M427T	Missense	7/11	-	1
14-63416941-T-G	c.1279A>C	p.M427L	Missense	7/11	-	1
14-63416944-T-C	c.1276A>G	p.T426A	Missense	7/11	-	1
14-63416946-A-C	c.1274T>G	p.F425C	Missense	7/11	-	1
14-63416947-A-C	c.1273T>G	p.F425V	Missense	7/11	-	1
14-63416953-G-A	c.1267C>T	p.L423F	Missense	7/11	-	1
14-63416953-G-C	c.1267C>G	p.L423V	Missense	7/11	-	2
14-63416953-G-T	c.1267C>A	p.L423I	Missense	7/11	-	2
14-63416957-G-T	c.1263C>A	p.S421=	Synonymous	7/11	-	1
14-63416958-G-A	c.1262C>T	p.S421F	Missense	7/11	-	1
14-63416959-A-G	c.1261T>C	p.S421P	Missense	7/11	-	1
14-63416960-C-G	c.1260G>C	p.V420=	Synonymous	7/11	-	2
14-63416962-C-A	c.1258G>T	p.V420L	Missense	7/11	-	4
14-63416962-C-G	c.1258G>C	p.V420L	Missense	7/11	-	3
14-63416962-C-T	c.1258G>A	p.V420M	Missense	7/11	-	1
14-63416963-G-A	c.1257C>T	p.Y419=	Synonymous	7/11	-	1
14-63416963-G-C	c.1257C>G	p.Y419*	Nonsense	7/11	-	3
14-63416963-G-T	c.1257C>A	p.Y419*	Nonsense	7/11	-	3
14-63416964-T-C	c.1256A>G	p.Y419C	Missense	7/11	-	5
14-63416970-G-A	c.1250C>T	p.S417L	Missense	7/11	-	1
14-63416970-G-T	c.1250C>A	p.S417*	Nonsense	7/11	-	1
14-63416974-C-A	c.1246G>T	p.D416Y	Missense	7/11	-	2
14-63416975-C-A	c.1245G>T	p.K415N	Missense	7/11	-	5
14-63416975-C-G	c.1245G>C	p.K415N	Missense	7/11	-	3
14-63416975-C-T	c.1245G>A	p.K415=	Synonymous	7/11	-	1
14-63416976-T-C	c.1244A>G	p.K415R	Missense	7/11	-	2
14-63416978-G-C	c.1242C>G	p.S414R	Missense	7/11	-	1
14-63416978-G-T	c.1242C>A	p.S414R	Missense	7/11	-	1
14-63416980-T-G	c.1240A>C	p.S414R	Missense	7/11	-	1
14-63416979-C-A	c.1241G>T	p.S414I	Missense	7/11	-	1
14-63416980-T-C	c.1240A>G	p.S414G	Missense	7/11	-	1
14-63416984-T-A	c.1236A>T	p.G412=	Synonymous	7/11	-	1
14-63416985-C-T	c.1235G>A	p.G412E	Missense	7/11	-	1
14-63416986-C-G	c.1234G>C	p.G412R	Missense	7/11	-	3
14-63416986-C-T	c.1234G>A	p.G412R	Missense	7/11	-	4
14-63416993-C-T	c.1227G>A	p.W409*	Nonsense	7/11	-	2
14-63416994-C-T	c.1226G>A	p.W409*	Nonsense	7/11	-	4
14-63416996-T-G	c.1224A>C	p.I408=	Synonymous	7/11	-	1
14-63417000-C-T	c.1220G>A	p.G407E	Missense	7/11	-	1
14-63417001-C-A	c.1219G>T	p.G407W	Missense	7/11	-	4
14-63417001-C-G	c.1219G>C	p.G407R	Missense	7/11	-	2
14-63417001-C-T	c.1219G>A	p.G407R	Missense	7/11	-	2
14-63417002-A-T	c.1218T>A	p.A406=	Synonymous	7/11	-	1
14-63417003-G-C	c.1217C>G	p.A406G	Missense	7/11	-	1
14-63417004-C-T	c.1216G>A	p.A406T	Missense	7/11	-	1
14-63417006-C-A	c.1214G>T	p.S405I	Missense	7/11	-	2
14-63417008-G-A	c.1212C>T	p.T404=	Synonymous	7/11	-	1
14-63417008-GG-CA	c.1211_1212delinsTG	p.T404M	Missense	7/11	-	1
14-63417013-T-A	c.1207A>T	p.N403Y	Missense	7/11	-	1
14-63417013-T-C	c.1207A>G	p.N403D	Missense	7/11	-	1
14-63417013-T-G	c.1207A>C	p.N403H	Missense	7/11	-	1
14-63417018-C-G	c.1202G>C	p.R401P	Missense	7/11	-	1
14-63417018-C-T	c.1202G>A	p.R401H	Missense	7/11	-	5
14-63417019-G-A	c.1201C>T	p.R401C	Missense	7/11	-	1
14-63417024-G-A	c.1196C>T	p.P399L	Missense	7/11	-	1
14-63417025-G-A	c.1195C>T	p.P399S	Missense	7/11	-	2
14-63417027-G-A	c.1193C>T	p.T398I	Missense	7/11	-	1
14-63417029-C-G	c.1191G>C	p.G397=	Synonymous	7/11	-	1
14-63417029-C-T	c.1191G>A	p.G397=	Synonymous	7/11	-	1
14-63417030-C-T	c.1190G>A	p.G397E	Missense	7/11	-	2
14-63417034-T-C	c.1186A>G	p.I396V	Missense	7/11	-	1
14-63417036-CT-AA	c.1183_1184delinsTT	p.S395F	Missense	7/11	-	1
14-63417043-C-A	c.1177G>T	p.A393S	Missense	7/11	-	3
14-63417045-A-G	c.1175T>C	p.L392P	Missense	7/11	-	1
14-63417049-G-T	c.1171C>A	p.Q391K	Missense	7/11	-	1
14-63417050-G-A	c.1170C>T	p.Y390=	Synonymous	7/11	-	2
14-63417050-G-GTCTT	c.1169_1170insAAGA	p.Y390*	Nonsense	7/11	-	1
14-63417056-C-A	c.1164G>T	p.W388C	Missense	7/11	-	1
14-63417060-C-A	c.1160G>T	p.S387I	Missense	7/11	-	1
14-63417064-C-T	c.1156G>A	p.D386N	Missense	7/11	-	1
14-63417065-T-A	c.1155A>T	p.I385=	Synonymous	7/11	-	1
14-63417065-T-G	c.1155A>C	p.I385=	Synonymous	7/11	-	1
14-63417071-G-A	c.1149C>T	p.I383=	Synonymous	7/11	-	3
14-63417074-G-A	c.1146C>T	p.T382=	Synonymous	7/11	-	1
14-63417074-G-C	c.1146C>G	p.T382=	Synonymous	7/11	-	1
14-63417074-G-T	c.1146C>A	p.T382=	Synonymous	7/11	-	1
14-63417078-T-A	c.1142A>T	p.N381I	Missense	7/11	-	2
14-63417080-A-G	c.1140T>C	p.T380=	Synonymous	7/11	-	1
14-63417080-AG-CA	c.1139_1140delinsTG	p.T380M	Missense	7/11	-	1
14-63417088-C-T	c.1132G>A	p.E378K	Missense	7/11	-	4
14-63417092-A-G	c.1128T>C	p.I376=	Synonymous	7/11	-	1
14-63417092-A-T	c.1128T>A	p.I376=	Synonymous	7/11	-	1
14-63417094-T-C	c.1126A>G	p.I376V	Missense	7/11	-	1
14-63417095-G-A	c.1125C>T	p.V375=	Synonymous	7/11	-	1
14-63417095-G-C	c.1125C>G	p.V375=	Synonymous	7/11	-	1
14-63417095-G-T	c.1125C>A	p.V375=	Synonymous	7/11	-	1
14-63417096-A-G	c.1124T>C	p.V375A	Missense	7/11	-	1
14-63417098-C-A	c.1122G>T	p.E374D	Missense	7/11	-	1
14-63417100-C-A	c.1120G>T	p.E374*	Nonsense	7/11	-	1
14-63417101-G-A	c.1119C>T	p.Y373=	Synonymous	7/11	-	2
14-63417101-G-C	c.1119C>G	p.Y373*	Nonsense	7/11	-	1
14-63417101-G-T	c.1119C>A	p.Y373*	Nonsense	7/11	-	1
14-63417103-A-G	c.1117T>C	p.Y373H	Missense	7/11	-	1
14-63417106-C-A	c.1114G>T	p.D372Y	Missense	7/11	-	2
14-63417107-T-A	c.1113A>T	p.G371=	Synonymous	7/11	-	1
14-63417107-T-C	c.1113A>G	p.G371=	Synonymous	7/11	-	1
14-63417107-T-G	c.1113A>C	p.G371=	Synonymous	7/11	-	2
14-63417109-C-G	c.1111G>C	p.G371R	Missense	7/11	-	2
14-63417109-C-T	c.1111G>A	p.G371R	Missense	7/11	-	5
14-63417110-G-A	c.1110C>T	p.I370=	Synonymous	7/11	-	3
14-63417110-G-T	c.1110C>A	p.I370=	Synonymous	7/11	-	1
14-63417111-A-C	c.1109T>G	p.I370S	Missense	7/11	-	1
14-63417112-T-C	c.1108A>G	p.I370V	Missense	7/11	-	3
14-63417114-C-A	c.1106G>T	p.S369I	Missense	7/11	-	1
14-63417114-C-T	c.1106G>A	p.S369N	Missense	7/11	-	1
14-63417119-C-T	c.1101G>A	p.W367*	Nonsense	7/11	-	2
14-63417120-C-T	c.1100G>A	p.W367*	Nonsense	7/11	-	1
14-63417122-T-C	c.1098A>G	p.I366M	Missense	7/11	-	3
14-63417124-T-C	c.1096A>G	p.I366V	Missense	7/11	-	1
14-63417125-G-A	c.1095C>T	p.C365=	Synonymous	7/11	-	1
14-63417129-G-T	c.1091C>A	p.A364D	Missense	7/11	-	1
14-63417130-C-T	c.1090G>A	p.A364T	Missense	7/11	-	1
14-63417134-C-T	c.1086G>A	p.W362*	Nonsense	7/11	-	1
14-63417135-C-T	c.1085G>A	p.W362*	Nonsense	7/11	-	1
14-63417138-T-C	c.1082A>G	p.H361R	Missense	7/11	-	1
14-63417140-G-A	c.1080C>T	p.A360=	Synonymous	7/11	-	1
14-63417140-G-C	c.1080C>G	p.A360=	Synonymous	7/11	-	1
14-63417140-G-T	c.1080C>A	p.A360=	Synonymous	7/11	-	1
14-63417142-C-T	c.1078G>A	p.A360T	Missense	7/11	-	1
14-63417143-C-A	c.1077G>T	p.V359=	Synonymous	7/11	-	2
14-63417143-C-G	c.1077G>C	p.V359=	Synonymous	7/11	-	2
14-63417143-C-T	c.1077G>A	p.V359=	Synonymous	7/11	-	4
14-63417145-C-A	c.1075G>T	p.V359L	Missense	7/11	-	1
14-63417146-C-A	c.1074G>T	p.L358=	Synonymous	7/11	-	1
14-63417148-G-T	c.1072C>A	p.L358M	Missense	7/11	-	1
14-63417150-C-A	c.1070G>T	p.G357V	Missense	7/11	-	1
14-63417153-A-T	c.1067T>A	p.F356Y	Missense	7/11	-	1
14-63417159-C-A	c.1061G>T	p.C354F	Missense	7/11	-	4
14-63417161-C-T	c.1059G>A	p.V353=	Synonymous	7/11	-	1
14-63417164-C-A	c.1056G>T	p.L352=	Synonymous	7/11	-	1
14-63417164-C-G	c.1056G>C	p.L352=	Synonymous	7/11	-	1
14-63417164-C-T	c.1056G>A	p.L352=	Synonymous	7/11	-	1
14-63417166-G-A	c.1054C>T	p.L352=	Synonymous	7/11	-	3
14-63417165-A-C	c.1055T>G	p.L352R	Missense	7/11	-	2
14-63417165-A-G	c.1055T>C	p.L352P	Missense	7/11	-	2
14-63417166-G-C	c.1054C>G	p.L352V	Missense	7/11	-	2
14-63417167-G-A	c.1053C>T	p.L351=	Synonymous	7/11	-	1
14-63417171-A-G	c.1049T>C	p.V350A	Missense	7/11	-	1
14-63417172-C-T	c.1048G>A	p.V350M	Missense	7/11	-	3
14-63417173-G-T	c.1047C>A	p.L349=	Synonymous	7/11	-	1
14-63417175-G-A	c.1045C>T	p.L349F	Missense	7/11	-	2
14-63417180-G-A	c.1040C>T	p.A347V	Missense	7/11	-	1
14-63417184-C-T	c.1036G>A	p.A346T	Missense	7/11	-	3
14-63417185-TCC-CCA	c.1033_1035delinsTGG	p.G345W	Missense	7/11	-	1
14-63417186-C-T	c.1034G>A	p.G345E	Missense	7/11	-	6
14-63417187-C-T	c.1033G>A	p.G345R	Missense	7/11	-	1
14-63417189-T-A	c.1031A>T	p.Y344F	Missense	7/11	-	1
14-63417189-TA-GC	c.1030_1031delinsGC	p.Y344A	Missense	7/11	-	1
14-63417189-T-C	c.1031A>G	p.Y344C	Missense	7/11	-	1
14-63417191-TTC-ACA	c.1027_1029delinsTGT	p.E343C	Missense	7/11	-	1
14-63417193-C-G	c.1027G>C	p.E343Q	Missense	7/11	-	2
14-63417194-T-A	c.1026A>T	p.L342=	Synonymous	7/11	-	1
14-63417194-T-C	c.1026A>G	p.L342=	Synonymous	7/11	-	1
14-63417194-T-G	c.1026A>C	p.L342=	Synonymous	7/11	-	1
14-63417196-G-A	c.1024C>T	p.L342=	Synonymous	7/11	-	1
14-63417198-T-C	c.1022A>G	p.Y341C	Missense	7/11	-	1
14-63417199-A-G	c.1021T>C	p.Y341H	Missense	7/11	-	1
14-63417204-TC-CA	c.1015_1016delinsTG	p.D339C	Missense	7/11	-	1
14-63417205-C-A	c.1015G>T	p.D339Y	Missense	7/11	-	1
14-63417206-C-A	c.1014G>T	p.L338=	Synonymous	7/11	-	2
14-63417206-C-G	c.1014G>C	p.L338=	Synonymous	7/11	-	2
14-63417206-C-T	c.1014G>A	p.L338=	Synonymous	7/11	-	2
14-63417208-G-A	c.1012C>T	p.L338=	Synonymous	7/11	-	2
14-63417210-TT-GC	c.1009_1010delinsGC	p.K337A	Missense	7/11	-	1
14-63417212-C-T	c.1008G>A	p.R336=	Synonymous	7/11	-	5
14-63417214-T-G	c.1006A>C	p.R336=	Synonymous	7/11	-	1
14-63417213-C-T	c.1007G>A	p.R336K	Missense	7/11	-	1
14-63417213-CT-TG	c.1006_1007delinsCA	p.R336Q	Missense	7/11	-	2
14-63417217-C-T	c.1003G>A	p.A335T	Missense	7/11	-	2
14-63417219-CA-C	c.1001del	p.V334Gfs*9	Frameshift	7/11	-	1
14-63417221-ACG-TCA	c.997_999delinsTGA	p.R333*	Nonsense	7/11	-	1
14-63417222-C-A	c.998G>T	p.R333L	Missense	7/11	-	1
14-63417222-CG-GC	c.997_998delinsGC	p.R333A	Missense	7/11	-	1
14-63417222-C-T	c.998G>A	p.R333H	Missense	7/11	-	2
14-63417223-G-T	c.997C>A	p.R333S	Missense	7/11	-	2
14-63417225-C-G	c.995G>C	p.G332A	Missense	7/11	-	1
14-63417226-C-A	c.994G>T	p.G332C	Missense	7/11	-	3
14-63417226-C-T	c.994G>A	p.G332S	Missense	7/11	-	3
14-63417230-TCG-CCA	c.988_990delinsTGG	p.R330W	Missense	7/11	-	1
14-63417231-CG-GC	c.988_989delinsGC	p.R330A	Missense	7/11	-	1
14-63417231-C-T	c.989G>A	p.R330Q	Missense	7/11	-	1
14-63417232-G-A	c.988C>T	p.R330*	Nonsense	7/11	-	2
14-63417236-G-A	c.984C>T	p.L328=	Synonymous	7/11	-	3
14-63417238-G-A	c.982C>T	p.L328F	Missense	7/11	-	2
14-63417238-G-T	c.982C>A	p.L328I	Missense	7/11	-	1
14-63417240-C-A	c.980G>T	p.R327L	Missense	7/11	-	1
14-63417240-C-T	c.980G>A	p.R327H	Missense	7/11	-	22
14-63417241-G-A	c.979C>T	p.R327C	Missense	7/11	-	1
14-63417244-C-A	c.976G>T	p.V326L	Missense	7/11	-	2
14-63417247-C-T	c.973G>A	p.V325M	Missense	7/11	-	2
14-63417252-A-C	c.968T>G	p.L323*	Nonsense	7/11	-	1
14-63417252-A-T	c.968T>A	p.L323*	Nonsense	7/11	-	1
14-63417255-G-A	c.965C>T	p.S322F	Missense	7/11	-	4
14-63417256-A-C	c.964T>G	p.S322A	Missense	7/11	-	1
14-63417257-A-C	c.963T>G	p.S321R	Missense	7/11	-	1
14-63417257-A-G	c.963T>C	p.S321=	Synonymous	7/11	-	3
14-63417257-A-T	c.963T>A	p.S321R	Missense	7/11	-	1
14-63417259-T-G	c.961A>C	p.S321R	Missense	7/11	-	1
14-63417258-C-T	c.962G>A	p.S321N	Missense	7/11	-	1
14-63417258-CT-GC	c.961_962delinsGC	p.S321A	Missense	7/11	-	1
14-63417258-CT-TG	c.961_962delinsCA	p.S321H	Missense	7/11	-	1
14-63417259-T-A	c.961A>T	p.S321C	Missense	7/11	-	1
14-63417264-A-T	c.956T>A	p.L319H	Missense	7/11	-	1
14-63417265-G-A	c.955C>T	p.L319F	Missense	7/11	-	3
14-63417265-G-C	c.955C>G	p.L319V	Missense	7/11	-	1
14-63417267-AC-A	c.953del	p.S318Ifs*6	Frameshift	7/11	-	1
14-63417267-CT-AA	c.952_953delinsTT	p.S318F	Missense	7/11	-	1
14-63417268-T-A	c.952A>T	p.S318C	Missense	7/11	-	2
14-63417270-C-T	c.950G>A	p.S317N	Missense	7/11	-	2
14-63417275-T-A	c.945A>T	p.G315=	Synonymous	7/11	-	1
14-63417275-T-C	c.945A>G	p.G315=	Synonymous	7/11	-	1
14-63417275-T-G	c.945A>C	p.G315=	Synonymous	7/11	-	1
14-63417276-C-T	c.944G>A	p.G315E	Missense	7/11	-	2
14-63445135-C-G	c.942+2455G>C	-	IntronicSNV	-	6/10	1
14-63447592-C-T	c.940G>A	p.E314K	Missense	6/11	-	5
14-63447595-C-G	c.937G>C	p.D313H	Missense	6/11	-	4
14-63447595-C-T	c.937G>A	p.D313N	Missense	6/11	-	1
14-63447597-A-T	c.935T>A	p.V312E	Missense	6/11	-	1
14-63447599-A-T	c.933T>A	p.N311K	Missense	6/11	-	1
14-63447599-A-AT	c.932dup	p.N311Kfs*4	Frameshift	6/11	-	1
14-63447604-C-T	c.928G>A	p.E310K	Missense	6/11	-	6
14-63447605-A-G	c.927T>C	p.F309=	Synonymous	6/11	-	1
14-63447607-A-T	c.925T>A	p.F309I	Missense	6/11	-	1
14-63447609-G-A	c.923C>T	p.A308V	Missense	6/11	-	1
14-63447612-T-A	c.920A>T	p.N307I	Missense	6/11	-	3
14-63447620-G-C	c.912C>G	p.D304E	Missense	6/11	-	2
14-63447620-G-T	c.912C>A	p.D304E	Missense	6/11	-	2
14-63447621-T-C	c.911A>G	p.D304G	Missense	6/11	-	2
14-63447622-C-A	c.910G>T	p.D304Y	Missense	6/11	-	2
14-63447622-C-T	c.910G>A	p.D304N	Missense	6/11	-	1
14-63447625-A-G	c.907T>C	p.Y303H	Missense	6/11	-	1
14-63447636-G-A	c.896C>T	p.S299F	Missense	6/11	-	2
14-63447636-G-C	c.896C>G	p.S299C	Missense	6/11	-	2
14-63447643-G-A	c.889C>T	p.L297=	Synonymous	6/11	-	2
14-63447646-C-T	c.886G>A	p.D296N	Missense	6/11	-	7
14-63447647-G-A	c.885C>T	p.I295=	Synonymous	6/11	-	3
14-63447648-A-G	c.884T>C	p.I295T	Missense	6/11	-	1
14-63447650-C-T	c.882G>A	p.V294=	Synonymous	6/11	-	3
14-63447659-AG-CA	c.872_873delinsTG	p.T291M	Missense	6/11	-	1
14-63447665-C-A	c.867G>T	p.L289=	Synonymous	6/11	-	1
14-63447665-C-G	c.867G>C	p.L289=	Synonymous	6/11	-	1
14-63447665-C-T	c.867G>A	p.L289=	Synonymous	6/11	-	3
14-63447667-G-A	c.865C>T	p.L289=	Synonymous	6/11	-	1
14-63447667-G-T	c.865C>A	p.L289M	Missense	6/11	-	1
14-63447674-C-A	c.858G>T	p.M286I	Missense	6/11	-	1
14-63447677-C-A	c.855G>T	p.R285S	Missense	6/11	-	2
14-63447677-C-G	c.855G>C	p.R285S	Missense	6/11	-	1
14-63447677-C-T	c.855G>A	p.R285=	Synonymous	6/11	-	3
14-63447678-C-A	c.854G>T	p.R285M	Missense	6/11	-	1
14-63447678-C-T	c.854G>A	p.R285K	Missense	6/11	-	1
14-63447679-T-C	c.853A>G	p.R285G	Missense	6/11	-	3
14-63447680-T-C	c.852A>G	p.I284M	Missense	6/11	-	1
14-63447682-T-C	c.850A>G	p.I284V	Missense	6/11	-	1
14-63447680-TATGAGCTTAGGGTCAGAA-T	c.834_851del	p.S279_I284del	InFrameDeletion	6/11	-	1
14-63447691-G-C	c.841C>G	p.P281A	Missense	6/11	-	1
14-63447696-G-A	c.836C>T	p.S279F	Missense	6/11	-	1
14-63447701-G-A	c.831C>T	p.V277=	Synonymous	6/11	-	4
14-63447701-GAC-CAT	c.829_831delinsATG	p.V277M	Missense	6/11	-	1
14-63447701-G-C	c.831C>G	p.V277=	Synonymous	6/11	-	1
14-63447701-G-T	c.831C>A	p.V277=	Synonymous	6/11	-	1
14-63447703-C-T	c.829G>A	p.V277I	Missense	6/11	-	1
14-63447705-T-C	c.827A>G	p.E276G	Missense	6/11	-	1
14-63447706-C-A	c.826G>T	p.E276*	Nonsense	6/11	-	2
14-63447706-C-T	c.826G>A	p.E276K	Missense	6/11	-	1
14-63447708-C-A	c.824G>T	p.G275V	Missense	6/11	-	1
14-63447709-C-T	c.823G>A	p.G275R	Missense	6/11	-	2
14-63447711-C-A	c.821G>T	p.G274V	Missense	6/11	-	1
14-63447711-C-G	c.821G>C	p.G274A	Missense	6/11	-	1
14-63447711-C-T	c.821G>A	p.G274D	Missense	6/11	-	2
14-63447712-C-A	c.820G>T	p.G274C	Missense	6/11	-	1
14-63447712-C-T	c.820G>A	p.G274S	Missense	6/11	-	2
14-63447713-G-A	c.819C>T	p.P273=	Synonymous	6/11	-	1
14-63447713-G-C	c.819C>G	p.P273=	Synonymous	6/11	-	1
14-63447715-G-A	c.817C>T	p.P273S	Missense	6/11	-	1
14-63447716-C-T	c.816G>A	p.G272=	Synonymous	6/11	-	2
14-63447717-C-A	c.815G>T	p.G272V	Missense	6/11	-	1
14-63447720-A-G	c.812T>C	p.V271A	Missense	6/11	-	2
14-63447721-C-T	c.811G>A	p.V271M	Missense	6/11	-	2
14-63447722-G-A	c.810C>T	p.F270=	Synonymous	6/11	-	9
14-63447722-G-T	c.810C>A	p.F270L	Missense	6/11	-	2
14-63447723-A-G	c.809T>C	p.F270S	Missense	6/11	-	1
14-63447722-G-C	c.810C>G	p.F270L	Missense	6/11	-	1
14-63447724-A-G	c.808T>C	p.F270L	Missense	6/11	-	1
14-63447728-C-T	c.804G>A	p.T268=	Synonymous	6/11	-	4
14-63447729-G-A	c.803C>T	p.T268M	Missense	6/11	-	3
14-63447736-A-G	c.796T>C	p.F266L	Missense	6/11	-	1
14-63447739-T-G	c.793A>C	p.N265H	Missense	6/11	-	3
14-63447745-C-T	c.787G>A	p.V263I	Missense	6/11	-	7
14-63447746-G-A	c.786C>T	p.I262=	Synonymous	6/11	-	7
14-63447746-G-T	c.786C>A	p.I262=	Synonymous	6/11	-	5
14-63447751-C-T	c.781G>A	p.D261N	Missense	6/11	-	1
14-63447753-A-T	c.779T>A	p.V260D	Missense	6/11	-	2
14-63447755-C-T	c.777G>A	p.L259=	Synonymous	6/11	-	3
14-63447756-A-G	c.776T>C	p.L259P	Missense	6/11	-	1
14-63447758-A-G	c.774T>C	p.F258=	Synonymous	6/11	-	1
14-63447764-A-C	c.768T>G	p.V256=	Synonymous	6/11	-	1
14-63447764-A-G	c.768T>C	p.V256=	Synonymous	6/11	-	1
14-63447764-A-T	c.768T>A	p.V256=	Synonymous	6/11	-	1
14-63447763-TA-T	c.768del	p.I257Ffs*8	Frameshift	6/11	-	1
14-63447765-A-T	c.767T>A	p.V256D	Missense	6/11	-	1
14-63447766-C-T	c.766G>A	p.V256I	Missense	6/11	-	6
14-63447767-G-A	c.765C>T	p.D255=	Synonymous	6/11	-	2
14-63447767-G-C	c.765C>G	p.D255E	Missense	6/11	-	1
14-63447768-GT-G	c.764del	p.D255Afs*10	Frameshift	6/11	-	1
14-63447768-TC-CA	c.763_764delinsTG	p.D255C	Missense	6/11	-	1
14-63447770-C-A	c.762G>T	p.V254=	Synonymous	6/11	-	1
14-63447770-C-G	c.762G>C	p.V254=	Synonymous	6/11	-	1
14-63447770-C-T	c.762G>A	p.V254=	Synonymous	6/11	-	1
14-63447771-AC-TT	c.760_761delinsAA	p.V254K	Missense	6/11	-	1
14-63447771-A-T	c.761T>A	p.V254E	Missense	6/11	-	2
14-63447772-C-T	c.760G>A	p.V254M	Missense	6/11	-	2
14-63447773-C-A	c.759G>T	p.V253=	Synonymous	6/11	-	1
14-63447773-C-G	c.759G>C	p.V253=	Synonymous	6/11	-	1
14-63447773-C-T	c.759G>A	p.V253=	Synonymous	6/11	-	1
14-63447774-A-G	c.758T>C	p.V253A	Missense	6/11	-	1
14-63447777-CT-TA	c.754_755delinsTA	p.S252Y	Missense	6/11	-	1
14-63447778-T-C	c.754A>G	p.S252G	Missense	6/11	-	1
14-63447781-C-T	c.751G>A	p.D251N	Missense	6/11	-	1
14-63447783-A-G	c.749T>C	p.L250P	Missense	6/11	-	1
14-63447785-TA-GT	c.746_747delinsAC	p.V249D	Missense	6/11	-	1
14-63447788-C-A	c.744G>T	p.L248=	Synonymous	6/11	-	2
14-63447788-C-G	c.744G>C	p.L248=	Synonymous	6/11	-	1
14-63447788-C-T	c.744G>A	p.L248=	Synonymous	6/11	-	3
14-63447790-G-A	c.742C>T	p.L248=	Synonymous	6/11	-	1
14-63447789-A-G	c.743T>C	p.L248P	Missense	6/11	-	1
14-63447796-C-A	c.736G>T	p.A246S	Missense	6/11	-	2
14-63447796-C-T	c.736G>A	p.A246T	Missense	6/11	-	2
14-63447799-T-C	c.733A>G	p.I245V	Missense	6/11	-	1
14-63447800-G-A	c.732C>T	p.N244=	Synonymous	6/11	-	1
14-63447801-T-C	c.731A>G	p.N244S	Missense	6/11	-	1
14-63447803-G-A	c.729C>T	p.N243=	Synonymous	6/11	-	1
14-63447809-C-G	c.723G>C	p.K241N	Missense	6/11	-	1
14-63447809-C-T	c.723G>A	p.K241=	Synonymous	6/11	-	5
14-63447810-T-C	c.722A>G	p.K241R	Missense	6/11	-	1
14-63447813-G-C	c.719C>G	p.T240R	Missense	6/11	-	1
14-63447817-T-A	c.715A>T	p.K239*	Nonsense	6/11	-	4
14-63447818-G-A	c.714C>T	p.F238=	Synonymous	6/11	-	2
14-63447821-G-A	c.711C>T	p.S237=	Synonymous	6/11	-	2
14-63447821-G-C	c.711C>G	p.S237=	Synonymous	6/11	-	3
14-63447821-G-T	c.711C>A	p.S237=	Synonymous	6/11	-	2
14-63447822-G-A	c.710C>T	p.S237F	Missense	6/11	-	7
14-63447824-A-C	c.708T>G	p.V236=	Synonymous	6/11	-	2
14-63447824-A-G	c.708T>C	p.V236=	Synonymous	6/11	-	2
14-63447824-A-T	c.708T>A	p.V236=	Synonymous	6/11	-	2
14-63447825-A-G	c.707T>C	p.V236A	Missense	6/11	-	5
14-63447825-A-T	c.707T>A	p.V236D	Missense	6/11	-	2
14-63447830-A-G	c.702T>C	p.Y234=	Synonymous	6/11	-	1
14-63447831-T-C	c.701A>G	p.Y234C	Missense	6/11	-	1
14-63447835-G-A	c.697C>T	p.P233S	Missense	6/11	-	8
14-63447836-A-C	c.696T>G	p.V232=	Synonymous	6/11	-	1
14-63447836-A-G	c.696T>C	p.V232=	Synonymous	6/11	-	1
14-63447836-A-T	c.696T>A	p.V232=	Synonymous	6/11	-	2
14-63447841-T-C	c.691A>G	p.M231V	Missense	6/11	-	2
14-63447842-A-G	c.690T>C	p.I230=	Synonymous	6/11	-	1
14-63447847-C-T	c.685G>A	p.A229T	Missense	6/11	-	9
14-63447847-CG-C	c.684del	p.A229Pfs*17	Frameshift	6/11	-	1
14-63447849-G-T	c.683C>A	p.T228N	Missense	6/11	-	2
14-63447848-GGT-G	c.682_683del	p.T228Rfs*7	Frameshift	6/11	-	1
14-63447854-G-C	c.678C>G	p.F226L	Missense	6/11	-	4
14-63447854-G-T	c.678C>A	p.F226L	Missense	6/11	-	3
14-63447856-A-G	c.676T>C	p.F226L	Missense	6/11	-	3
14-63447861-A-G	c.671T>C	p.L224P	Missense	6/11	-	1
14-63447862-G-A	c.670C>T	p.L224F	Missense	6/11	-	2
14-63447862-G-C	c.670C>G	p.L224V	Missense	6/11	-	2
14-63447862-G-T	c.670C>A	p.L224I	Missense	6/11	-	2
14-63447863-A-G	c.669T>C	p.I223=	Synonymous	6/11	-	1
14-63447865-T-G	c.667A>C	p.I223L	Missense	6/11	-	1
14-63447870-A-G	c.662T>C	p.I221T	Missense	6/11	-	1
14-63447872-C-T	c.660G>A	p.V220=	Synonymous	6/11	-	2
14-63447875-C-A	c.657G>T	p.W219C	Missense	6/11	-	1
14-63447879-T-A	c.653A>T	p.D218V	Missense	6/11	-	1
14-63447880-C-T	c.652G>A	p.D218N	Missense	6/11	-	2
14-63447881-C-A	c.651G>T	p.W217C	Missense	6/11	-	1
14-63447881-C-G	c.651G>C	p.W217C	Missense	6/11	-	1
14-63447881-C-T	c.651G>A	p.W217*	Nonsense	6/11	-	1
14-63447882-C-T	c.650G>A	p.W217*	Nonsense	6/11	-	1
14-63447883-A-G	c.649T>C	p.W217R	Missense	6/11	-	1
14-63447886-T-G	c.646A>C	p.T216P	Missense	6/11	-	1
14-63447888-G-T	c.644C>A	p.T215N	Missense	6/11	-	1
14-63447894-A-T	c.638T>A	p.F213Y	Missense	6/11	-	2
14-63447896-AAG-A	c.635_636del	p.A212Vfs*2	Frameshift	6/11	-	1
14-63447897-G-A	c.635C>T	p.A212V	Missense	6/11	-	1
14-63447899-A-C	c.633T>G	p.C211W	Missense	6/11	-	1
14-63447901-A-G	c.631T>C	p.C211R	Missense	6/11	-	1
14-63447903-T-G	c.629A>C	p.Y210S	Missense	6/11	-	1
14-63447904-A-G	c.628T>C	p.Y210H	Missense	6/11	-	2
14-63447907-G-A	c.625C>T	p.H209Y	Missense	6/11	-	1
14-63447907-G-C	c.625C>G	p.H209D	Missense	6/11	-	1
14-63447908-TA-T	c.623del	p.L208Yfs*13	Frameshift	6/11	-	1
14-63447912-A-G	c.620T>C	p.I207T	Missense	6/11	-	1
14-63447919-G-T	c.613C>A	p.H205N	Missense	6/11	-	1
14-63447921-G-A	c.611C>T	p.P204L	Missense	6/11	-	1
14-63447924-G-A	c.608C>T	p.P203L	Missense	6/11	-	1
14-63447926-C-A	c.606G>T	p.T202=	Synonymous	6/11	-	2
14-63447926-C-G	c.606G>C	p.T202=	Synonymous	6/11	-	2
14-63447926-C-T	c.606G>A	p.T202=	Synonymous	6/11	-	3
14-63447927-G-A	c.605C>T	p.T202M	Missense	6/11	-	6
14-63447930-T-C	c.602A>G	p.K201R	Missense	6/11	-	2
14-63447931-T-C	c.601A>G	p.K201E	Missense	6/11	-	1
14-63447933-G-A	c.599C>T	p.P200L	Missense	6/11	-	1
14-63447933-G-T	c.599C>A	p.P200Q	Missense	6/11	-	1
14-63447935-C-A	c.597G>T	p.A199=	Synonymous	6/11	-	2
14-63447935-C-G	c.597G>C	p.A199=	Synonymous	6/11	-	1
14-63447935-C-T	c.597G>A	p.A199=	Synonymous	6/11	-	3
14-63447936-G-A	c.596C>T	p.A199V	Missense	6/11	-	2
14-63447937-C-T	c.595G>A	p.A199T	Missense	6/11	-	1
14-63447940-CTTG-C	c.589_591del	p.Q197del	InFrameDeletion	6/11	-	1
14-63447944-T-A	c.588A>T	p.K196N	Missense	6/11	-	4
14-63447944-T-G	c.588A>C	p.K196N	Missense	6/11	-	2
14-63447950-C-CTCTT	c.581_582insAAGA	p.Y195Rfs*3	Frameshift	6/11	-	1
14-63447951-T-A	c.581A>T	p.Q194L	Missense	6/11	-	1
14-63447952-G-C	c.580C>G	p.Q194E	Missense	6/11	-	1
14-63447955-G-A	c.577C>T	p.P193S	Missense	6/11	-	1
14-63447955-G-T	c.577C>A	p.P193T	Missense	6/11	-	1
14-63447958-G-A	c.574C>T	p.L192F	Missense	6/11	-	2
14-63447959-G-A	c.573C>T	p.I191=	Synonymous	6/11	-	4
14-63447960-A-C	c.572T>G	p.I191S	Missense	6/11	-	1
14-63447964-C-T	c.568G>A	p.D190N	Missense	6/11	-	2
14-63447966-G-C	c.566C>G	p.S189*	Nonsense	6/11	-	2
14-63447966-G-T	c.566C>A	p.S189*	Nonsense	6/11	-	2
14-63447969-C-T	c.563G>A	p.G188E	Missense	6/11	-	2
14-63447970-C-A	c.562G>T	p.G188*	Nonsense	6/11	-	1
14-63447970-C-T	c.562G>A	p.G188R	Missense	6/11	-	2
14-63447979-G-T	c.553C>A	p.L185I	Missense	6/11	-	1
14-63447982-C-G	c.550G>C	p.V184L	Missense	6/11	-	1
14-63447982-C-T	c.550G>A	p.V184I	Missense	6/11	-	1
14-63453773-A-G	c.549+17T>C	-	IntronicSNV	-	5/10	13
14-63453789-C-A	c.549+1G>T	-	IntronicSNV	-	5/10	1
14-63453795-C-T	c.544G>A	p.A182T	Missense	5/11	-	1
14-63453797-A-G	c.542T>C	p.L181P	Missense	5/11	-	2
14-63453802-T-A	c.537A>T	p.S179=	Synonymous	5/11	-	1
14-63453802-T-C	c.537A>G	p.S179=	Synonymous	5/11	-	1
14-63453802-T-G	c.537A>C	p.S179=	Synonymous	5/11	-	1
14-63453802-TG-AA	c.536_537delinsTT	p.S179F	Missense	5/11	-	2
14-63453803-G-C	c.536C>G	p.S179*	Nonsense	5/11	-	2
14-63453803-G-T	c.536C>A	p.S179*	Nonsense	5/11	-	5
14-63453811-A-G	c.528T>C	p.H176=	Synonymous	5/11	-	1
14-63453812-T-G	c.527A>C	p.H176P	Missense	5/11	-	1
14-63453814-G-A	c.525C>T	p.V175=	Synonymous	5/11	-	2
14-63453815-A-C	c.524T>G	p.V175G	Missense	5/11	-	1
14-63453815-A-G	c.524T>C	p.V175A	Missense	5/11	-	1
14-63453819-C-T	c.520G>A	p.V174M	Missense	5/11	-	5
14-63453822-C-G	c.517G>C	p.E173Q	Missense	5/11	-	1
14-63453824-G-C	c.515C>G	p.T172R	Missense	5/11	-	1
14-63453824-GT-G	c.514del	p.T172Qfs*10	Frameshift	5/11	-	1
14-63453832-C-A	c.507G>T	p.M169I	Missense	5/11	-	1
14-63453832-C-G	c.507G>C	p.M169I	Missense	5/11	-	1
14-63453832-C-T	c.507G>A	p.M169I	Missense	5/11	-	1
14-63453838-C-A	c.501G>T	p.T167=	Synonymous	5/11	-	1
14-63453838-C-G	c.501G>C	p.T167=	Synonymous	5/11	-	1
14-63453838-C-T	c.501G>A	p.T167=	Synonymous	5/11	-	1
14-63453839-G-A	c.500C>T	p.T167M	Missense	5/11	-	3
14-63453849-G-A	c.490C>T	p.Q164*	Nonsense	5/11	-	1
14-63453852-A-T	c.487T>A	p.L163M	Missense	5/11	-	2
14-63453857-C-A	c.482G>T	p.S161I	Missense	5/11	-	2
14-63453860-C-T	c.479G>A	p.R160Q	Missense	5/11	-	9
14-63453861-G-A	c.478C>T	p.R160*	Nonsense	5/11	-	1
14-63453868-T-G	c.471A>C	p.T157=	Synonymous	5/11	-	1
14-63453869-G-T	c.470C>A	p.T157K	Missense	5/11	-	2
14-63453877-CC-AT	c.461_462delinsAT	p.R154H	Missense	5/11	-	1
14-63453878-C-A	c.461G>T	p.R154L	Missense	5/11	-	2
14-63453879-G-A	c.460C>T	p.R154W	Missense	5/11	-	8
14-63453879-G-T	c.460C>A	p.R154=	Synonymous	5/11	-	1
14-63453880-TG-CA	c.458_459inv	p.T153M	Missense	5/11	-	1
14-63453881-G-T	c.458C>A	p.T153K	Missense	5/11	-	1
14-63453883-C-T	c.456G>A	p.L152=	Synonymous	5/11	-	1
14-63453885-A-G	c.454T>C	p.L152=	Synonymous	5/11	-	1
14-63453886-TC-AT	c.452_453delinsAT	p.R151H	Missense	5/11	-	1
14-63453887-C-G	c.452G>C	p.R151P	Missense	5/11	-	1
14-63453887-C-T	c.452G>A	p.R151Q	Missense	5/11	-	10
14-63453891-C-T	c.448G>A	p.A150T	Missense	5/11	-	2
14-63453892-A-G	c.447T>C	p.F149=	Synonymous	5/11	-	1
14-63453896-T-G	c.443A>C	p.K148T	Missense	5/11	-	2
14-63453898-C-A	c.441G>T	p.T147=	Synonymous	5/11	-	5
14-63453898-C-G	c.441G>C	p.T147=	Synonymous	5/11	-	4
14-63453898-C-T	c.441G>A	p.T147=	Synonymous	5/11	-	13
14-63453899-G-A	c.440C>T	p.T147M	Missense	5/11	-	5
14-63453901-C-T	c.438G>A	p.W146*	Nonsense	5/11	-	5
14-63453902-C-A	c.437G>T	p.W146L	Missense	5/11	-	1
14-63453902-C-T	c.437G>A	p.W146*	Nonsense	5/11	-	1
14-63453905-C-A	c.434G>T	p.G145V	Missense	5/11	-	2
14-63462620-GA-G	c.433+5428del	-	IntronicDeletion	-	4/10	1
14-63463002-C-G	c.433+5047G>C	-	IntronicSNV	-	4/10	1
14-63467873-A-C	c.433+176T>G	-	IntronicSNV	-	4/10	1
14-63467879-C-T	c.433+170G>A	-	IntronicSNV	-	4/10	2
14-63468044-A-G	c.433+5T>C	-	IntronicSNV	-	4/10	1
14-63468049-C-T	c.433G>A	p.G145S	Missense	4/11	-	1
14-63468051-T-A	c.431A>T	p.K144I	Missense	4/11	-	1
14-63468054-G-A	c.428C>T	p.T143I	Missense	4/11	-	1
14-63468054-G-T	c.428C>A	p.T143K	Missense	4/11	-	1
14-63468057-G-A	c.425C>T	p.S142L	Missense	4/11	-	3
14-63468057-GA-CT	c.424_425delinsAG	p.S142R	Missense	4/11	-	1
14-63468058-A-G	c.424T>C	p.S142P	Missense	4/11	-	1
14-63468061-C-T	c.421G>A	p.D141N	Missense	4/11	-	2
14-63468064-C-T	c.418G>A	p.D140N	Missense	4/11	-	3
14-63468065-C-T	c.417G>A	p.E139=	Synonymous	4/11	-	1
14-63468067-C-T	c.415G>A	p.E139K	Missense	4/11	-	1
14-63468070-T-A	c.412A>T	p.I138L	Missense	4/11	-	1
14-63468070-T-C	c.412A>G	p.I138V	Missense	4/11	-	1
14-63468074-C-A	c.408G>T	p.Q136H	Missense	4/11	-	1
14-63468074-C-G	c.408G>C	p.Q136H	Missense	4/11	-	1
14-63468076-G-T	c.406C>A	p.Q136K	Missense	4/11	-	2
14-63468077-TTT-AAA	c.403_405inv	p.K135F	Missense	4/11	-	1
14-63468078-T-G	c.404A>C	p.K135T	Missense	4/11	-	1
14-63468080-G-A	c.402C>T	p.F134=	Synonymous	4/11	-	1
14-63468080-G-C	c.402C>G	p.F134L	Missense	4/11	-	1
14-63468080-G-T	c.402C>A	p.F134L	Missense	4/11	-	1
14-63468082-A-C	c.400T>G	p.F134V	Missense	4/11	-	1
14-63468082-A-G	c.400T>C	p.F134L	Missense	4/11	-	1
14-63468084-A-T	c.398T>A	p.L133*	Nonsense	4/11	-	1
14-63468086-C-A	c.396G>T	p.T132=	Synonymous	4/11	-	1
14-63468086-C-G	c.396G>C	p.T132=	Synonymous	4/11	-	1
14-63468086-C-T	c.396G>A	p.T132=	Synonymous	4/11	-	1
14-63468087-G-A	c.395C>T	p.T132M	Missense	4/11	-	7
14-63468094-C-T	c.388G>A	p.D130N	Missense	4/11	-	5
14-63468095-C-A	c.387G>T	p.K129N	Missense	4/11	-	1
14-63468095-C-G	c.387G>C	p.K129N	Missense	4/11	-	1
14-63468102-G-A	c.380C>T	p.T127I	Missense	4/11	-	1
14-63468105-C-A	c.377G>T	p.C126F	Missense	4/11	-	1
14-63468108-A-G	c.374T>C	p.L125P	Missense	4/11	-	1
14-63468109-G-A	c.373C>T	p.L125=	Synonymous	4/11	-	1
14-63468109-G-T	c.373C>A	p.L125M	Missense	4/11	-	1
14-63468110-G-A	c.372C>T	p.F124=	Synonymous	4/11	-	1
14-63468112-A-C	c.370T>G	p.F124V	Missense	4/11	-	1
14-63468114-A-G	c.368T>C	p.L123S	Missense	4/11	-	1
14-63468116-G-A	c.366C>T	p.V122=	Synonymous	4/11	-	1
14-63468116-G-C	c.366C>G	p.V122=	Synonymous	4/11	-	1
14-63468116-G-T	c.366C>A	p.V122=	Synonymous	4/11	-	1
14-63468119-C-A	c.363G>T	p.V121=	Synonymous	4/11	-	1
14-63468119-C-G	c.363G>C	p.V121=	Synonymous	4/11	-	1
14-63468119-C-T	c.363G>A	p.V121=	Synonymous	4/11	-	1
14-63468127-C-T	c.355G>A	p.E119K	Missense	4/11	-	3
14-63468130-G-A	c.352C>T	p.H118Y	Missense	4/11	-	2
14-63468130-G-C	c.352C>G	p.H118D	Missense	4/11	-	1
14-63468132-T-C	c.350A>G	p.E117G	Missense	4/11	-	1
14-63468133-C-A	c.349G>T	p.E117*	Nonsense	4/11	-	1
14-63468138-C-A	c.344G>T	p.R115I	Missense	4/11	-	1
14-63468138-C-T	c.344G>A	p.R115K	Missense	4/11	-	2
14-63468140-T-A	c.342A>T	p.I114=	Synonymous	4/11	-	1
14-63468140-T-C	c.342A>G	p.I114M	Missense	4/11	-	7
14-63468145-G-A	c.337C>T	p.P113S	Missense	4/11	-	3
14-63468145-G-T	c.337C>A	p.P113T	Missense	4/11	-	1
14-63468147-G-A	c.335C>T	p.A112V	Missense	4/11	-	1
14-63468148-C-T	c.334G>A	p.A112T	Missense	4/11	-	3
14-63468149-A-C	c.333T>G	p.I111M	Missense	4/11	-	1
14-63468150-A-G	c.332T>C	p.I111T	Missense	4/11	-	3
14-63468158-A-G	c.324T>C	p.Y108=	Synonymous	4/11	-	1
14-63468158-A-T	c.324T>A	p.Y108*	Nonsense	4/11	-	1
14-63468159-T-C	c.323A>G	p.Y108C	Missense	4/11	-	1
14-63468160-A-G	c.322T>C	p.Y108H	Missense	4/11	-	2
14-63468159-TA-T	c.322del	p.Y108Ifs*7	Frameshift	4/11	-	1
14-63468164-C-T	c.318G>A	p.W106*	Nonsense	4/11	-	4
14-63468165-C-T	c.317G>A	p.W106*	Nonsense	4/11	-	2
14-63468166-A-C	c.316T>G	p.W106G	Missense	4/11	-	1
14-63468166-A-T	c.316T>A	p.W106R	Missense	4/11	-	1
14-63468165-CA-C	c.316del	p.W106Gfs*9	Frameshift	4/11	-	3
14-63468168-A-C	c.314T>G	p.V105G	Missense	4/11	-	1
14-63468171-G-A	c.311C>T	p.P104L	Missense	4/11	-	1
14-63468172-G-C	c.310C>G	p.P104A	Missense	4/11	-	1
14-63468172-G-T	c.310C>A	p.P104T	Missense	4/11	-	1
14-63468173-G-A	c.309C>T	p.T103=	Synonymous	4/11	-	1
14-63468173-G-C	c.309C>G	p.T103=	Synonymous	4/11	-	1
14-63468173-G-T	c.309C>A	p.T103=	Synonymous	4/11	-	1
14-63468177-C-T	c.305G>A	p.R102K	Missense	4/11	-	4
14-63468298-A-C	c.305-121T>G	-	IntronicSNV	-	3/10	3
14-63471499-C-T	c.304+1585G>A	-	IntronicSNV	-	3/10	1
14-63473089-T-A	c.299A>T	p.K100I	Missense	3/11	-	2
14-63473085-G-GT	c.302dup	p.N101Kfs*17	SpliceDonorInsertion	3/11	-	2
14-63473091-C-A	c.297G>T	p.K99N	Missense	3/11	-	3
14-63473091-C-G	c.297G>C	p.K99N	Missense	3/11	-	1
14-63473091-C-T	c.297G>A	p.K99=	Synonymous	3/11	-	4
14-63473094-G-C	c.294C>G	p.Y98*	Nonsense	3/11	-	2
14-63473094-G-T	c.294C>A	p.Y98*	Nonsense	3/11	-	3
14-63473097-C-A	c.291G>T	p.L97=	Synonymous	3/11	-	2
14-63473097-C-G	c.291G>C	p.L97=	Synonymous	3/11	-	2
14-63473097-C-T	c.291G>A	p.L97=	Synonymous	3/11	-	2
14-63473099-G-A	c.289C>T	p.L97=	Synonymous	3/11	-	4
14-63473097-CAGA-C	c.288_290del	p.L97del	InFrameDeletion	3/11	-	1
14-63473102-G-A	c.286C>T	p.L96F	Missense	3/11	-	1
14-63473105-C-A	c.283G>T	p.V95F	Missense	3/11	-	1
14-63473108-C-T	c.280G>A	p.E94K	Missense	3/11	-	1
14-63473109-A-G	c.279T>C	p.F93=	Synonymous	3/11	-	1
14-63473110-A-T	c.278T>A	p.F93Y	Missense	3/11	-	1
14-63473112-G-A	c.276C>T	p.C92=	Synonymous	3/11	-	1
14-63473113-C-A	c.275G>T	p.C92F	Missense	3/11	-	1
14-63473115-G-A	c.273C>T	p.N91=	Synonymous	3/11	-	1
14-63473115-GT-G	c.272del	p.N91Tfs*24	Frameshift	3/11	-	1
14-63473123-C-G	c.265G>C	p.E89Q	Missense	3/11	-	1
14-63473123-C-T	c.265G>A	p.E89K	Missense	3/11	-	6
14-63473124-G-A	c.264C>T	p.Y88=	Synonymous	3/11	-	2
14-63473125-T-C	c.263A>G	p.Y88C	Missense	3/11	-	1
14-63473127-G-A	c.261C>T	p.N87=	Synonymous	3/11	-	1
14-63473129-T-C	c.259A>G	p.N87D	Missense	3/11	-	1
14-63473132-C-T	c.256G>A	p.D86N	Missense	3/11	-	1
14-63473136-A-C	c.252T>G	p.T84=	Synonymous	3/11	-	2
14-63473136-A-G	c.252T>C	p.T84=	Synonymous	3/11	-	1
14-63473139-T-C	c.249A>G	p.Q83=	Synonymous	3/11	-	1
14-63473141-G-A	c.247C>T	p.Q83*	Nonsense	3/11	-	2
14-63473142-C-T	c.246G>A	p.R82=	Synonymous	3/11	-	2
14-63473144-T-G	c.244A>C	p.R82=	Synonymous	3/11	-	1
14-63473143-C-T	c.245G>A	p.R82K	Missense	3/11	-	1
14-63473143-CT-TG	c.244_245delinsCA	p.R82Q	Missense	3/11	-	1
14-63473144-T-C	c.244A>G	p.R82G	Missense	3/11	-	1
14-63473147-C-G	c.241G>C	p.V81L	Missense	3/11	-	1
14-63473149-T-G	c.239A>C	p.K80T	Missense	3/11	-	1
14-63473151-CTC-AAA	c.235_237delinsTTT	p.E79F	Missense	3/11	-	1
14-63473152-T-G	c.236A>C	p.E79A	Missense	3/11	-	1
14-63473153-C-G	c.235G>C	p.E79Q	Missense	3/11	-	1
14-63473153-C-T	c.235G>A	p.E79K	Missense	3/11	-	1
14-63473155-A-G	c.233T>C	p.I78T	Missense	3/11	-	1
14-63473158-G-C	c.230C>G	p.T77S	Missense	3/11	-	1
14-63473160-C-A	c.228G>T	p.K76N	Missense	3/11	-	1
14-63473161-T-A	c.227A>T	p.K76M	Missense	3/11	-	1
14-63473164-T-C	c.224A>G	p.K75R	Missense	3/11	-	2
14-63473168-C-G	c.220G>C	p.D74H	Missense	3/11	-	1
14-63473168-C-T	c.220G>A	p.D74N	Missense	3/11	-	2
14-63473170-G-C	c.218C>G	p.T73S	Missense	3/11	-	1
14-63473170-G-T	c.218C>A	p.T73N	Missense	3/11	-	2
14-63473171-T-A	c.217A>T	p.T73S	Missense	3/11	-	1
14-63473172-C-A	c.216G>T	p.L72F	Missense	3/11	-	1
14-63473173-A-G	c.215T>C	p.L72S	Missense	3/11	-	4
14-63473176-T-C	c.212A>G	p.E71G	Missense	3/11	-	1
14-63473177-C-T	c.211G>A	p.E71K	Missense	3/11	-	4
14-63473178-CCC-GCT	c.208_210delinsAGC	p.G70S	Missense	3/11	-	1
14-63473180-C-T	c.208G>A	p.G70R	Missense	3/11	-	1
14-63473181-A-G	c.207T>C	p.Y69=	Synonymous	3/11	-	3
14-63473182-T-A	c.206A>T	p.Y69F	Missense	3/11	-	1
14-63473183-A-G	c.205T>C	p.Y69H	Missense	3/11	-	2
14-63473184-C-G	c.204G>C	p.M68I	Missense	3/11	-	1
14-63473185-A-G	c.203T>C	p.M68T	Missense	3/11	-	1
14-63473186-T-A	c.202A>T	p.M68L	Missense	3/11	-	1
14-63473186-T-G	c.202A>C	p.M68L	Missense	3/11	-	1
14-63473187-A-C	c.201T>G	p.F67L	Missense	3/11	-	1
14-63473187-A-T	c.201T>A	p.F67L	Missense	3/11	-	1
14-63473189-A-G	c.199T>C	p.F67L	Missense	3/11	-	1
14-63480961-A-T	c.197+2588T>A	-	IntronicSNV	-	2/10	1
14-63483450-T-C	c.197+99A>G	-	IntronicSNV	-	2/10	1
14-63483546-T-C	c.197+3A>G	-	IntronicSNV	-	2/10	1
14-63483549-C-T	c.197G>A	p.S66N	Missense	2/11	-	2
14-63483551-G-A	c.195C>T	p.C65=	Synonymous	2/11	-	1
14-63483555-G-C	c.191C>G	p.T64S	Missense	2/11	-	1
14-63483555-G-T	c.191C>A	p.T64N	Missense	2/11	-	1
14-63483556-T-A	c.190A>T	p.T64S	Missense	2/11	-	3
14-63483557-G-A	c.189C>T	p.S63=	Synonymous	2/11	-	1
14-63483558-C-A	c.188G>T	p.S63I	Missense	2/11	-	1
14-63483558-CT-AA	c.187_188delinsTT	p.S63F	Missense	2/11	-	1
14-63483568-G-A	c.178C>T	p.Q60*	Nonsense	2/11	-	1
14-63483574-C-A	c.172G>T	p.V58F	Missense	2/11	-	2
14-63483575-G-A	c.171C>T	p.D57=	Synonymous	2/11	-	3
14-63483577-C-A	c.169G>T	p.D57Y	Missense	2/11	-	2
14-63483579-G-A	c.167C>T	p.A56V	Missense	2/11	-	3
14-63483580-C-A	c.166G>T	p.A56S	Missense	2/11	-	3
14-63483582-CG-GT	c.163_164delinsAC	p.R55T	Missense	2/11	-	1
14-63483582-C-T	c.164G>A	p.R55Q	Missense	2/11	-	2
14-63483583-G-C	c.163C>G	p.R55G	Missense	2/11	-	1
14-63483584-A-T	c.162T>A	p.H54Q	Missense	2/11	-	2
14-63483586-G-C	c.160C>G	p.H54D	Missense	2/11	-	1
14-63483589-A-G	c.157T>C	p.Y53H	Missense	2/11	-	1
14-63483590-T-A	c.156A>T	p.G52=	Synonymous	2/11	-	1
14-63483591-C-A	c.155G>T	p.G52V	Missense	2/11	-	1
14-63483591-C-T	c.155G>A	p.G52E	Missense	2/11	-	4
14-63483593-AG-TT	c.152_153delinsAA	p.S51*	Nonsense	2/11	-	1
14-63483594-G-A	c.152C>T	p.S51F	Missense	2/11	-	1
14-63483594-GA-AG	c.151_152delinsCT	p.S51L	Missense	2/11	-	1
14-63483596-G-A	c.150C>T	p.L50=	Synonymous	2/11	-	1
14-63483596-G-C	c.150C>G	p.L50=	Synonymous	2/11	-	1
14-63483596-G-T	c.150C>A	p.L50=	Synonymous	2/11	-	2
14-63483597-A-G	c.149T>C	p.L50P	Missense	2/11	-	2
14-63483601-T-C	c.145A>G	p.K49E	Missense	2/11	-	1
14-63483603-C-G	c.143G>C	p.C48S	Missense	2/11	-	1
14-63483609-C-A	c.137G>T	p.G46V	Missense	2/11	-	8
14-63483609-C-G	c.137G>C	p.G46A	Missense	2/11	-	1
14-63483609-C-T	c.137G>A	p.G46D	Missense	2/11	-	2
14-63483610-C-T	c.136G>A	p.G46S	Missense	2/11	-	1
14-63483611-G-A	c.135C>T	p.D45=	Synonymous	2/11	-	2
14-63483613-C-T	c.133G>A	p.D45N	Missense	2/11	-	1
14-63483618-C-G	c.128G>C	p.S43T	Missense	2/11	-	2
14-63483619-T-A	c.127A>T	p.S43C	Missense	2/11	-	2
14-63483619-T-C	c.127A>G	p.S43G	Missense	2/11	-	1
14-63483620-TA-T	c.126del	p.Y42*	Frameshift	2/11	-	1
14-63483623-A-C	c.123T>G	p.V41=	Synonymous	2/11	-	1
14-63483623-A-G	c.123T>C	p.V41=	Synonymous	2/11	-	1
14-63483623-A-T	c.123T>A	p.V41=	Synonymous	2/11	-	1
14-63483630-G-A	c.116C>T	p.P39L	Missense	2/11	-	2
14-63483632-C-A	c.114G>T	p.W38C	Missense	2/11	-	1
14-63483632-C-T	c.114G>A	p.W38*	Nonsense	2/11	-	1
14-63483637-C-T	c.109G>A	p.D37N	Missense	2/11	-	1
14-63483638-C-A	c.108G>T	p.V36=	Synonymous	2/11	-	1
14-63483638-C-T	c.108G>A	p.V36=	Synonymous	2/11	-	2
14-63483639-A-G	c.107T>C	p.V36A	Missense	2/11	-	1
14-63483640-C-G	c.106G>C	p.V36L	Missense	2/11	-	1
14-63483642-A-T	c.104T>A	p.I35N	Missense	2/11	-	4
14-63483647-G-A	c.99C>T	p.A33=	Synonymous	2/11	-	1
14-63483647-G-C	c.99C>G	p.A33=	Synonymous	2/11	-	1
14-63483647-G-T	c.99C>A	p.A33=	Synonymous	2/11	-	1
14-63483653-T-A	c.93A>T	p.G31=	Synonymous	2/11	-	1
14-63483653-T-C	c.93A>G	p.G31=	Synonymous	2/11	-	1
14-63483653-T-G	c.93A>C	p.G31=	Synonymous	2/11	-	1
14-63483654-C-T	c.92G>A	p.G31E	Missense	2/11	-	5
14-63483655-C-G	c.91G>C	p.G31R	Missense	2/11	-	1
14-63483655-C-T	c.91G>A	p.G31R	Missense	2/11	-	1
14-63483658-G-T	c.88C>A	p.L30M	Missense	2/11	-	1
14-63483659-T-A	c.87A>T	p.L29F	Missense	2/11	-	1
14-63483661-A-C	c.85T>G	p.L29V	Missense	2/11	-	2
14-63483662-G-A	c.84C>T	p.F28=	Synonymous	2/11	-	1
14-63483662-G-C	c.84C>G	p.F28L	Missense	2/11	-	2
14-63483662-G-T	c.84C>A	p.F28L	Missense	2/11	-	1
14-63483664-A-G	c.82T>C	p.F28L	Missense	2/11	-	1
14-63483666-C-A	c.80G>T	p.S27I	Missense	2/11	-	1
14-63483667-T-C	c.79A>G	p.S27G	Missense	2/11	-	2
14-63483668-T-A	c.78A>T	p.S26=	Synonymous	2/11	-	1
14-63483668-T-C	c.78A>G	p.S26=	Synonymous	2/11	-	1
14-63483668-T-G	c.78A>C	p.S26=	Synonymous	2/11	-	1
14-63483668-TG-AT	c.77_78delinsAT	p.S26Y	Missense	2/11	-	1
14-63483671-T-C	c.75A>G	p.E25=	Synonymous	2/11	-	1
14-63490931-A-T	c.74-7259T>A	-	IntronicSNV	-	1/10	1
14-63499833-C-T	c.73+11999G>A	-	IntronicSNV	-	1/10	1
14-63510074-G-A	c.73+1758C>T	-	IntronicSNV	-	1/10	1
14-63511825-T-C	c.73+7A>G	-	IntronicSNV	-	1/10	1
14-63511832-C-A	c.73G>T	p.E25*	Nonsense	1/11	-	1
14-63511832-C-G	c.73G>C	p.E25Q	Missense	1/11	-	1
14-63511832-C-T	c.73G>A	p.E25K	Missense	1/11	-	1
14-63511834-CT-AG	c.70_71inv	p.S24L	Missense	1/11	-	1
14-63511835-T-A	c.70A>T	p.S24C	Missense	1/11	-	1
14-63511836-G-A	c.69C>T	p.S23=	Synonymous	1/11	-	2
14-63511836-G-C	c.69C>G	p.S23=	Synonymous	1/11	-	1
14-63511836-G-T	c.69C>A	p.S23=	Synonymous	1/11	-	1
14-63511837-G-C	c.68C>G	p.S23C	Missense	1/11	-	1
14-63511838-A-C	c.67T>G	p.S23A	Missense	1/11	-	1
14-63511839-G-A	c.66C>T	p.R22=	Synonymous	1/11	-	1
14-63511839-G-C	c.66C>G	p.R22=	Synonymous	1/11	-	1
14-63511839-GC-TT	c.65_66delinsAA	p.R22Q	Missense	1/11	-	1
14-63511839-G-T	c.66C>A	p.R22=	Synonymous	1/11	-	1
14-63511840-C-T	c.65G>A	p.R22H	Missense	1/11	-	2
14-63511843-C-T	c.62G>A	p.R21K	Missense	1/11	-	1
14-63511847-C-T	c.58G>A	p.V20I	Missense	1/11	-	1
14-63511854-C-A	c.51G>T	p.E17D	Missense	1/11	-	2
14-63511854-C-G	c.51G>C	p.E17D	Missense	1/11	-	1
14-63511856-C-T	c.49G>A	p.E17K	Missense	1/11	-	2
14-63511862-A-T	c.43T>A	p.F15I	Missense	1/11	-	1
14-63511869-C-A	c.36G>T	p.Q12H	Missense	1/11	-	1
14-63511869-C-G	c.36G>C	p.Q12H	Missense	1/11	-	1
14-63511869-C-T	c.36G>A	p.Q12=	Synonymous	1/11	-	2
14-63511871-G-A	c.34C>T	p.Q12*	Nonsense	1/11	-	1
14-63511871-G-C	c.34C>G	p.Q12E	Missense	1/11	-	1
14-63511873-G-A	c.32C>T	p.P11L	Missense	1/11	-	2
14-63511874-G-A	c.31C>T	p.P11S	Missense	1/11	-	2
14-63511875-T-A	c.30A>T	p.A10=	Synonymous	1/11	-	1
14-63511875-TGC-ATA	c.28_30delinsTAT	p.A10Y	Missense	1/11	-	1
14-63511875-TGC-CAT	c.28_30delinsATG	p.A10M	Missense	1/11	-	1
14-63511876-G-C	c.29C>G	p.A10G	Missense	1/11	-	2
14-63511877-C-T	c.28G>A	p.A10T	Missense	1/11	-	1
14-63511879-A-G	c.26T>C	p.V9A	Missense	1/11	-	2
14-63511879-A-T	c.26T>A	p.V9E	Missense	1/11	-	1
14-63511884-C-T	c.21G>A	p.G7=	Synonymous	1/11	-	1
14-63511888-C-T	c.17G>A	p.R6K	Missense	1/11	-	1
14-63511890-C-G	c.15G>C	p.K5N	Missense	1/11	-	2
14-63511892-T-TG	c.12dup	p.K5Qfs*21	Frameshift	1/11	-	1
14-63511893-G-T	c.12C>A	p.G4=	Synonymous	1/11	-	1
14-63511894-C-A	c.11G>T	p.G4V	Missense	1/11	-	1
14-63511895-C-A	c.10G>T	p.G4C	Missense	1/11	-	1
14-63511893-G-GC	c.11dup	p.K5Qfs*21	Frameshift	1/11	-	2
14-63511896-CCCCGGCAT-C	c.1_8del	p.M1_?3	CdsStartDeletion	1/11	-	1
14-63511900-G-A	c.5C>T	p.P2L	Missense	1/11	-	1
14-63511901-G-A	c.4C>T	p.P2S	Missense	1/11	-	2
14-63511902-C-A	c.3G>T	p.M1?	Missense	1/11	-	1
14-63511902-C-G	c.3G>C	p.M1?	Missense	1/11	-	1
14-63511902-C-T	c.3G>A	p.M1?	Missense	1/11	-	1
14-63511951-G-A	c.-47C>T	-	5-UTRSNV	1/11	-	1
14-63511977-G-A	c.-73C>T	-	IntergenicSNV	1/11	-	1
14-63512023-C-CGCG	c.-122_-120dup	-	UnclassifiedInsertion	1/11	-	1