GLIS3

GLIS3 GLIS family zinc finger 3

Annotation transcript: NM_001042413.2

1600 unique variant annotations were identified in 931 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
9-3824934-A-T	c.*3338T>A	-	3-UTRSNV	11/11	-	1
9-3824936-T-A	c.*3336A>T	-	3-UTRSNV	11/11	-	5
9-3825260-C-G	c.*3012G>C	-	3-UTRSNV	11/11	-	1
9-3825260-C-T	c.*3012G>A	-	3-UTRSNV	11/11	-	1
9-3825540-C-T	c.*2732G>A	-	3-UTRSNV	11/11	-	5
9-3825812-G-A	c.*2460C>T	-	3-UTRSNV	11/11	-	4
9-3826081-C-T	c.*2191G>A	-	3-UTRSNV	11/11	-	2
9-3826440-T-C	c.*1832A>G	-	3-UTRSNV	11/11	-	2
9-3826440-T-G	c.*1832A>C	-	3-UTRSNV	11/11	-	2
9-3826471-T-G	c.*1801A>C	-	3-UTRSNV	11/11	-	1
9-3826471-T-TG	c.1800_1801insC	-	3-UTRInsertion	11/11	-	2
9-3826507-C-T	c.*1765G>A	-	3-UTRSNV	11/11	-	1
9-3826670-A-C	c.*1602T>G	-	3-UTRSNV	11/11	-	1
9-3826710-T-G	c.*1562A>C	-	3-UTRSNV	11/11	-	4
9-3827075-C-G	c.*1197G>C	-	3-UTRSNV	11/11	-	3
9-3827120-A-C	c.*1152T>G	-	3-UTRSNV	11/11	-	3
9-3827560-G-A	c.*712C>T	-	3-UTRSNV	11/11	-	5
9-3827561-G-C	c.*711C>G	-	3-UTRSNV	11/11	-	1
9-3827824-C-T	c.*448G>A	-	3-UTRSNV	11/11	-	3
9-3828276-C-A	c.2789G>T	p.G930V	Missense	11/11	-	1
9-3828277-C-G	c.2788G>C	p.G930R	Missense	11/11	-	1
9-3828280-C-A	c.2785G>T	p.E929*	Nonsense	11/11	-	2
9-3828280-C-T	c.2785G>A	p.E929K	Missense	11/11	-	6
9-3828281-G-A	c.2784C>T	p.T928=	Synonymous	11/11	-	2
9-3828282-G-A	c.2783C>T	p.T928I	Missense	11/11	-	1
9-3828286-A-T	c.2779T>A	p.Y927N	Missense	11/11	-	1
9-3828287-G-C	c.2778C>G	p.V926=	Synonymous	11/11	-	2
9-3828291-G-A	c.2774C>T	p.S925F	Missense	11/11	-	2
9-3828294-G-A	c.2771C>T	p.S924F	Missense	11/11	-	1
9-3828295-A-G	c.2770T>C	p.S924P	Missense	11/11	-	1
9-3828296-G-A	c.2769C>T	p.L923=	Synonymous	11/11	-	1
9-3828296-G-C	c.2769C>G	p.L923=	Synonymous	11/11	-	1
9-3828297-A-C	c.2768T>G	p.L923R	Missense	11/11	-	1
9-3828300-T-A	c.2765A>T	p.Q922L	Missense	11/11	-	1
9-3828301-G-T	c.2764C>A	p.Q922K	Missense	11/11	-	1
9-3828305-A-G	c.2760T>C	p.P920=	Synonymous	11/11	-	2
9-3828306-G-A	c.2759C>T	p.P920L	Missense	11/11	-	1
9-3828306-G-T	c.2759C>A	p.P920H	Missense	11/11	-	1
9-3828309-C-A	c.2756G>T	p.C919F	Missense	11/11	-	1
9-3828309-C-T	c.2756G>A	p.C919Y	Missense	11/11	-	1
9-3828309-C-G	c.2756G>C	p.C919S	Missense	11/11	-	1
9-3828310-A-G	c.2755T>C	p.C919R	Missense	11/11	-	2
9-3828312-C-T	c.2753G>A	p.R918H	Missense	11/11	-	5
9-3828313-G-T	c.2752C>A	p.R918S	Missense	11/11	-	2
9-3828316-C-A	c.2749G>T	p.D917Y	Missense	11/11	-	1
9-3828319-C-A	c.2746G>T	p.V916L	Missense	11/11	-	1
9-3828319-C-G	c.2746G>C	p.V916L	Missense	11/11	-	1
9-3828319-C-T	c.2746G>A	p.V916M	Missense	11/11	-	1
9-3828320-G-A	c.2745C>T	p.T915=	Synonymous	11/11	-	1
9-3828326-G-A	c.2739C>T	p.I913=	Synonymous	11/11	-	1
9-3828329-C-A	c.2736G>T	p.Q912H	Missense	11/11	-	1
9-3828329-C-G	c.2736G>C	p.Q912H	Missense	11/11	-	1
9-3828334-A-C	c.2731T>G	p.L911V	Missense	11/11	-	3
9-3828335-G-A	c.2730C>T	p.F910=	Synonymous	11/11	-	2
9-3828335-G-C	c.2730C>G	p.F910L	Missense	11/11	-	2
9-3828335-G-T	c.2730C>A	p.F910L	Missense	11/11	-	2
9-3828337-A-G	c.2728T>C	p.F910L	Missense	11/11	-	2
9-3828338-G-A	c.2727C>T	p.T909=	Synonymous	11/11	-	1
9-3828342-G-A	c.2723C>T	p.A908V	Missense	11/11	-	4
9-3828346-C-T	c.2719G>A	p.D907N	Missense	11/11	-	1
9-3828350-A-T	c.2715T>A	p.A905=	Synonymous	11/11	-	1
9-3828352-C-T	c.2713G>A	p.A905T	Missense	11/11	-	1
9-3828355-C-A	c.2710G>T	p.G904W	Missense	11/11	-	1
9-3828355-C-G	c.2710G>C	p.G904R	Missense	11/11	-	2
9-3828355-C-T	c.2710G>A	p.G904R	Missense	11/11	-	2
9-3828356-G-A	c.2709C>T	p.S903=	Synonymous	11/11	-	2
9-3828359-GCG-TCA	c.2704_2706delinsTGA	p.R902*	Nonsense	11/11	-	2
9-3828361-G-A	c.2704C>T	p.R902C	Missense	11/11	-	4
9-3828361-G-T	c.2704C>A	p.R902S	Missense	11/11	-	1
9-3828370-C-T	c.2695G>A	p.E899K	Missense	11/11	-	1
9-3828371-C-T	c.2694G>A	p.G898=	Synonymous	11/11	-	1
9-3828372-C-T	c.2693G>A	p.G898E	Missense	11/11	-	1
9-3828373-C-T	c.2692G>A	p.G898R	Missense	11/11	-	1
9-3828375-A-G	c.2690T>C	p.F897S	Missense	11/11	-	1
9-3828379-G-A	c.2686C>T	p.L896F	Missense	11/11	-	5
9-3828384-G-A	c.2681C>T	p.S894L	Missense	11/11	-	1
9-3828385-A-G	c.2680T>C	p.S894P	Missense	11/11	-	1
9-3828386-G-T	c.2679C>A	p.S893=	Synonymous	11/11	-	2
9-3828387-G-A	c.2678C>T	p.S893F	Missense	11/11	-	5
9-3828390-C-T	c.2675G>A	p.S892N	Missense	11/11	-	1
9-3828391-T-C	c.2674A>G	p.S892G	Missense	11/11	-	3
9-3828393-G-T	c.2672C>A	p.S891*	Nonsense	11/11	-	1
9-3828401-A-T	c.2664T>A	p.D888E	Missense	11/11	-	1
9-3828402-T-C	c.2663A>G	p.D888G	Missense	11/11	-	2
9-3828609-A-G	c.2657-201T>C	-	IntronicSNV	-	10/10	2
9-3828714-A-C	c.2657-306T>G	-	IntronicSNV	-	10/10	1
9-3828714-A-G	c.2657-306T>C	-	IntronicSNV	-	10/10	1
9-3829187-C-T	c.2656+123G>A	-	IntronicSNV	-	10/10	2
9-3829188-G-A	c.2656+122C>T	-	IntronicSNV	-	10/10	1
9-3829188-G-T	c.2656+122C>A	-	IntronicSNV	-	10/10	1
9-3829212-T-C	c.2656+98A>G	-	IntronicSNV	-	10/10	3
9-3829225-G-A	c.2656+85C>T	-	IntronicSNV	-	10/10	1
9-3829317-G-A	c.2649C>T	p.G883=	Synonymous	10/11	-	1
9-3829319-C-A	c.2647G>T	p.G883C	Missense	10/11	-	2
9-3829317-GC-G	c.2648del	p.G883Afs*103	Frameshift	10/11	-	1
9-3829320-C-A	c.2646G>T	p.S882=	Synonymous	10/11	-	1
9-3829320-C-T	c.2646G>A	p.S882=	Synonymous	10/11	-	1
9-3829321-G-A	c.2645C>T	p.S882L	Missense	10/11	-	1
9-3829322-AGT-A	c.2642_2643del	p.H881Lfs*7	Frameshift	10/11	-	1
9-3829329-C-T	c.2637G>A	p.S879=	Synonymous	10/11	-	1
9-3829330-G-A	c.2636C>T	p.S879L	Missense	10/11	-	5
9-3829330-G-C	c.2636C>G	p.S879W	Missense	10/11	-	1
9-3829331-A-C	c.2635T>G	p.S879A	Missense	10/11	-	2
9-3829332-G-T	c.2634C>A	p.F878L	Missense	10/11	-	1
9-3829336-G-A	c.2630C>T	p.A877V	Missense	10/11	-	2
9-3829336-G-T	c.2630C>A	p.A877D	Missense	10/11	-	1
9-3829337-C-T	c.2629G>A	p.A877T	Missense	10/11	-	1
9-3829339-C-T	c.2627G>A	p.R876K	Missense	10/11	-	3
9-3829352-C-G	c.2614G>C	p.D872H	Missense	10/11	-	2
9-3829352-C-T	c.2614G>A	p.D872N	Missense	10/11	-	1
9-3829354-A-C	c.2612T>G	p.F871C	Missense	10/11	-	3
9-3829357-C-T	c.2609G>A	p.S870N	Missense	10/11	-	1
9-3829360-G-A	c.2606C>T	p.A869V	Missense	10/11	-	2
9-3829363-T-A	c.2603A>T	p.Q868L	Missense	10/11	-	1
9-3829364-G-A	c.2602C>T	p.Q868*	Nonsense	10/11	-	1
9-3829366-C-T	c.2600G>A	p.G867D	Missense	10/11	-	1
9-3829367-C-A	c.2599G>T	p.G867C	Missense	10/11	-	1
9-3829368-C-A	c.2598G>T	p.M866I	Missense	10/11	-	2
9-3829368-C-G	c.2598G>C	p.M866I	Missense	10/11	-	1
9-3829368-C-T	c.2598G>A	p.M866I	Missense	10/11	-	4
9-3829372-G-A	c.2594C>T	p.S865F	Missense	10/11	-	1
9-3829373-A-C	c.2593T>G	p.S865A	Missense	10/11	-	3
9-3829373-A-G	c.2593T>C	p.S865P	Missense	10/11	-	1
9-3829375-G-A	c.2591C>T	p.T864I	Missense	10/11	-	1
9-3829378-G-T	c.2588C>A	p.P863H	Missense	10/11	-	1
9-3829379-G-A	c.2587C>T	p.P863S	Missense	10/11	-	1
9-3829383-T-C	c.2583A>G	p.L861=	Synonymous	10/11	-	1
9-3829387-CA-GT	c.2578_2579delinsAC	p.C860T	Missense	10/11	-	1
9-3829391-C-T	c.2575G>A	p.D859N	Missense	10/11	-	3
9-3829394-C-A	c.2572G>T	p.E858*	Nonsense	10/11	-	1
9-3829396-A-C	c.2570T>G	p.F857C	Missense	10/11	-	1
9-3829396-A-T	c.2570T>A	p.F857Y	Missense	10/11	-	2
9-3829398-C-T	c.2568G>A	p.S856=	Synonymous	10/11	-	1
9-3829399-G-A	c.2567C>T	p.S856L	Missense	10/11	-	2
9-3829405-A-C	c.2561T>G	p.V854G	Missense	10/11	-	1
9-3829406-C-T	c.2560G>A	p.V854M	Missense	10/11	-	1
9-3829409-C-T	c.2557G>A	p.V853M	Missense	10/11	-	1
9-3829411-C-A	c.2555G>T	p.S852I	Missense	10/11	-	1
9-3829411-C-G	c.2555G>C	p.S852T	Missense	10/11	-	4
9-3829411-C-T	c.2555G>A	p.S852N	Missense	10/11	-	2
9-3829413-G-A	c.2553C>T	p.C851=	Synonymous	10/11	-	1
9-3829417-G-A	c.2549C>T	p.S850F	Missense	10/11	-	1
9-3829424-C-G	c.2542G>C	p.V848L	Missense	10/11	-	1
9-3829426-G-A	c.2540C>T	p.P847L	Missense	10/11	-	1
9-3829428-C-T	c.2538G>A	p.P846=	Synonymous	10/11	-	1
9-3829429-G-A	c.2537C>T	p.P846L	Missense	10/11	-	6
9-3829438-C-T	c.2528G>A	p.R843K	Missense	10/11	-	3
9-3829442-G-A	c.2524C>T	p.Q842*	Nonsense	10/11	-	1
9-3829443-G-A	c.2523C>T	p.S841=	Synonymous	10/11	-	1
9-3829444-G-A	c.2522C>T	p.S841F	Missense	10/11	-	2
9-3829444-G-C	c.2522C>G	p.S841C	Missense	10/11	-	1
9-3829448-C-T	c.2518G>A	p.D840N	Missense	10/11	-	4
9-3829449-G-A	c.2517C>T	p.P839=	Synonymous	10/11	-	6
9-3829449-G-C	c.2517C>G	p.P839=	Synonymous	10/11	-	3
9-3829449-G-T	c.2517C>A	p.P839=	Synonymous	10/11	-	3
9-3829452-G-A	c.2514C>T	p.Y838=	Synonymous	10/11	-	1
9-3829457-G-A	c.2509C>T	p.H837Y	Missense	10/11	-	3
9-3829458-T-A	c.2508A>T	p.P836=	Synonymous	10/11	-	1
9-3829462-G-A	c.2504C>T	p.P835L	Missense	10/11	-	1
9-3829463-G-C	c.2503C>G	p.P835A	Missense	10/11	-	1
9-3829467-G-A	c.2499C>T	p.F833=	Synonymous	10/11	-	1
9-3829467-G-C	c.2499C>G	p.F833L	Missense	10/11	-	1
9-3829470-C-T	c.2496G>A	p.K832=	Synonymous	10/11	-	1
9-3829471-T-G	c.2495A>C	p.K832T	Missense	10/11	-	2
9-3829472-T-C	c.2494A>G	p.K832E	Missense	10/11	-	1
9-3829476-C-A	c.2490G>T	p.L830=	Synonymous	10/11	-	1
9-3829476-C-G	c.2490G>C	p.L830=	Synonymous	10/11	-	1
9-3829476-C-T	c.2490G>A	p.L830=	Synonymous	10/11	-	1
9-3829478-G-A	c.2488C>T	p.L830=	Synonymous	10/11	-	1
9-3829482-C-A	c.2484G>T	p.G828=	Synonymous	10/11	-	2
9-3829482-C-T	c.2484G>A	p.G828=	Synonymous	10/11	-	1
9-3829483-C-A	c.2483G>T	p.G828V	Missense	10/11	-	1
9-3829484-C-T	c.2482G>A	p.G828R	Missense	10/11	-	1
9-3829488-A-C	c.2478T>G	p.F826L	Missense	10/11	-	1
9-3829488-A-T	c.2478T>A	p.F826L	Missense	10/11	-	1
9-3829490-A-G	c.2476T>C	p.F826L	Missense	10/11	-	1
9-3829492-C-G	c.2474G>C	p.G825A	Missense	10/11	-	1
9-3829492-C-T	c.2474G>A	p.G825E	Missense	10/11	-	3
9-3829631-C-G	c.2474-139G>C	-	IntronicSNV	-	9/10	4
9-3829631-C-T	c.2474-139G>A	-	IntronicSNV	-	9/10	4
9-3834063-C-T	c.2474-4571G>A	-	IntronicSNV	-	9/10	1
9-3838888-C-T	c.2474-9396G>A	-	IntronicSNV	-	9/10	1
9-3844061-G-A	c.2473+11948C>T	-	IntronicSNV	-	9/10	1
9-3855961-C-T	c.2473+48G>A	-	IntronicSNV	-	9/10	1
9-3855963-C-CA	c.2473+45dup	-	IntronicInsertion	-	9/10	3
9-3855965-A-AG	c.2473+43_2473+44insC	-	IntronicInsertion	-	9/10	1
9-3856009-C-A	c.2473G>T	p.G825*	Nonsense	9/11	-	1
9-3856009-C-G	c.2473G>C	p.G825R	Missense	9/11	-	1
9-3856009-C-T	c.2473G>A	p.G825R	Missense	9/11	-	2
9-3856011-T-C	c.2471A>G	p.H824R	Missense	9/11	-	2
9-3856011-T-G	c.2471A>C	p.H824P	Missense	9/11	-	2
9-3856014-A-T	c.2468T>A	p.V823D	Missense	9/11	-	1
9-3856015-C-A	c.2467G>T	p.V823F	Missense	9/11	-	1
9-3856023-C-A	c.2459G>T	p.G820V	Missense	9/11	-	1
9-3856024-C-A	c.2458G>T	p.G820C	Missense	9/11	-	1
9-3856029-G-C	c.2453C>G	p.P818R	Missense	9/11	-	1
9-3856038-G-T	c.2444C>A	p.S815Y	Missense	9/11	-	2
9-3856043-G-A	c.2439C>T	p.N813=	Synonymous	9/11	-	1
9-3856043-G-C	c.2439C>G	p.N813K	Missense	9/11	-	1
9-3856045-T-C	c.2437A>G	p.N813D	Missense	9/11	-	1
9-3856051-C-G	c.2431G>C	p.E811Q	Missense	9/11	-	2
9-3856059-T-C	c.2423A>G	p.Y808C	Missense	9/11	-	1
9-3856061-G-C	c.2421C>G	p.S807=	Synonymous	9/11	-	2
9-3856061-G-T	c.2421C>A	p.S807=	Synonymous	9/11	-	1
9-3856063-A-G	c.2419T>C	p.S807P	Missense	9/11	-	1
9-3856064-C-A	c.2418G>T	p.K806N	Missense	9/11	-	1
9-3856064-C-G	c.2418G>C	p.K806N	Missense	9/11	-	1
9-3856074-G-A	c.2408C>T	p.S803L	Missense	9/11	-	1
9-3856074-G-T	c.2408C>A	p.S803*	Nonsense	9/11	-	1
9-3856075-A-T	c.2407T>A	p.S803T	Missense	9/11	-	2
9-3856078-C-G	c.2404G>C	p.G802R	Missense	9/11	-	1
9-3856078-C-T	c.2404G>A	p.G802S	Missense	9/11	-	1
9-3856080-G-A	c.2402C>T	p.S801L	Missense	9/11	-	3
9-3856086-T-A	c.2396A>T	p.Q799L	Missense	9/11	-	1
9-3856088-C-T	c.2394G>A	p.Q798=	Synonymous	9/11	-	1
9-3856090-G-A	c.2392C>T	p.Q798*	Nonsense	9/11	-	2
9-3856099-G-C	c.2383C>G	p.P795A	Missense	9/11	-	5
9-3856103-C-A	c.2379G>T	p.Q793H	Missense	9/11	-	1
9-3856103-C-G	c.2379G>C	p.Q793H	Missense	9/11	-	2
9-3856103-C-T	c.2379G>A	p.Q793=	Synonymous	9/11	-	1
9-3856105-G-A	c.2377C>T	p.Q793*	Nonsense	9/11	-	1
9-3856110-C-T	c.2372G>A	p.R791K	Missense	9/11	-	2
9-3856114-G-A	c.2368C>T	p.Q790*	Nonsense	9/11	-	2
9-3856122-G-A	c.2360C>T	p.S787L	Missense	9/11	-	2
9-3856122-GA-CT	c.2359_2360delinsAG	p.S787R	Missense	9/11	-	1
9-3856125-G-A	c.2357C>T	p.S786F	Missense	9/11	-	1
9-3856131-G-C	c.2351C>G	p.A784G	Missense	9/11	-	1
9-3856132-C-G	c.2350G>C	p.A784P	Missense	9/11	-	1
9-3856136-AAC-CAT	c.2344_2346delinsATG	p.V782M	Missense	9/11	-	1
9-3856140-CT-GG	c.2341_2342delinsCC	p.R781P	Missense	9/11	-	1
9-3856143-C-T	c.2339G>A	p.R780Q	Missense	9/11	-	2
9-3856144-G-A	c.2338C>T	p.R780W	Missense	9/11	-	1
9-3856144-G-T	c.2338C>A	p.R780=	Synonymous	9/11	-	1
9-3856146-G-T	c.2336C>A	p.P779H	Missense	9/11	-	2
9-3856143-C-CG	c.2338dup	p.R780Pfs*79	Frameshift	9/11	-	2
9-3856148-G-A	c.2334C>T	p.S778=	Synonymous	9/11	-	1
9-3856148-G-C	c.2334C>G	p.S778R	Missense	9/11	-	1
9-3856151-G-C	c.2331C>G	p.I777M	Missense	9/11	-	1
9-3856152-A-T	c.2330T>A	p.I777N	Missense	9/11	-	1
9-3856153-T-A	c.2329A>T	p.I777F	Missense	9/11	-	1
9-3856154-G-C	c.2328C>G	p.H776Q	Missense	9/11	-	2
9-3856167-G-GTA	c.2314_2315insTA	p.P772Lfs*35	Frameshift	9/11	-	1
9-3856175-A-C	c.2307T>G	p.P769=	Synonymous	9/11	-	1
9-3856176-G-T	c.2306C>A	p.P769H	Missense	9/11	-	2
9-3856177-G-T	c.2305C>A	p.P769T	Missense	9/11	-	2
9-3856181-A-C	c.2301T>G	p.F767L	Missense	9/11	-	1
9-3856319-T-C	c.2298-135A>G	-	IntronicSNV	-	8/10	1
9-3862693-G-A	c.2298-6509C>T	-	IntronicSNV	-	8/10	1
9-3868229-A-G	c.2297+11198T>C	-	IntronicSNV	-	8/10	1
9-3869315-T-C	c.2297+10112A>G	-	IntronicSNV	-	8/10	1
9-3872622-C-T	c.2297+6805G>A	-	IntronicSNV	-	8/10	2
9-3879403-G-C	c.2297+24C>G	-	IntronicSNV	-	8/10	1
9-3879403-G-T	c.2297+24C>A	-	IntronicSNV	-	8/10	1
9-3879435-T-G	c.2289A>C	p.G763=	Synonymous	8/11	-	1
9-3879437-C-T	c.2287G>A	p.G763R	Missense	8/11	-	1
9-3879441-G-A	c.2283C>T	p.D761=	Synonymous	8/11	-	2
9-3879441-G-T	c.2283C>A	p.D761E	Missense	8/11	-	2
9-3879443-C-T	c.2281G>A	p.D761N	Missense	8/11	-	2
9-3879454-A-G	c.2270T>C	p.L757P	Missense	8/11	-	2
9-3879458-G-A	c.2266C>T	p.P756S	Missense	8/11	-	1
9-3879462-T-C	c.2262A>G	p.L754=	Synonymous	8/11	-	2
9-3879464-A-G	c.2260T>C	p.L754=	Synonymous	8/11	-	2
9-3879466-T-C	c.2258A>G	p.Q753R	Missense	8/11	-	1
9-3879469-G-C	c.2255C>G	p.S752C	Missense	8/11	-	1
9-3879475-G-A	c.2249C>T	p.P750L	Missense	8/11	-	1
9-3879479-T-A	c.2245A>T	p.N749Y	Missense	8/11	-	1
9-3879482-G-A	c.2242C>T	p.H748Y	Missense	8/11	-	1
9-3879485-G-T	c.2239C>A	p.P747T	Missense	8/11	-	1
9-3879487-C-T	c.2237G>A	p.S746N	Missense	8/11	-	1
9-3879494-G-A	c.2230C>T	p.Q744*	Nonsense	8/11	-	1
9-3879497-C-A	c.2227G>T	p.V743L	Missense	8/11	-	1
9-3879497-C-T	c.2227G>A	p.V743I	Missense	8/11	-	1
9-3879501-A-T	c.2223T>A	p.H741Q	Missense	8/11	-	1
9-3879503-G-A	c.2221C>T	p.H741Y	Missense	8/11	-	1
9-3879505-C-T	c.2219G>A	p.G740E	Missense	8/11	-	1
9-3879508-G-A	c.2216C>T	p.P739L	Missense	8/11	-	2
9-3879511-G-A	c.2213C>T	p.S738F	Missense	8/11	-	3
9-3879513-A-C	c.2211T>G	p.P737=	Synonymous	8/11	-	1
9-3879514-G-T	c.2210C>A	p.P737H	Missense	8/11	-	1
9-3879516-G-A	c.2208C>T	p.H736=	Synonymous	8/11	-	1
9-3879518-G-T	c.2206C>A	p.H736N	Missense	8/11	-	1
9-3879522-G-C	c.2202C>G	p.V734=	Synonymous	8/11	-	1
9-3879526-G-A	c.2198C>T	p.P733L	Missense	8/11	-	1
9-3879526-G-C	c.2198C>G	p.P733R	Missense	8/11	-	1
9-3879527-G-A	c.2197C>T	p.P733S	Missense	8/11	-	1
9-3879532-G-A	c.2192C>T	p.P731L	Missense	8/11	-	1
9-3879532-G-T	c.2192C>A	p.P731Q	Missense	8/11	-	4
9-3879533-G-T	c.2191C>A	p.P731T	Missense	8/11	-	1
9-3879535-G-A	c.2189C>T	p.P730L	Missense	8/11	-	1
9-3879540-TAC-AAA	c.2182_2184delinsTTT	p.V728F	Missense	8/11	-	1
9-3879540-T-C	c.2184A>G	p.V728=	Synonymous	8/11	-	1
9-3879541-A-C	c.2183T>G	p.V728G	Missense	8/11	-	1
9-3879541-A-G	c.2183T>C	p.V728A	Missense	8/11	-	1
9-3879542-C-A	c.2182G>T	p.V728L	Missense	8/11	-	1
9-3879543-G-A	c.2181C>T	p.A727=	Synonymous	8/11	-	1
9-3879543-G-T	c.2181C>A	p.A727=	Synonymous	8/11	-	1
9-3879547-C-A	c.2177G>T	p.G726V	Missense	8/11	-	1
9-3879548-C-G	c.2176G>C	p.G726R	Missense	8/11	-	1
9-3879548-C-T	c.2176G>A	p.G726R	Missense	8/11	-	2
9-3879549-A-G	c.2175T>C	p.A725=	Synonymous	8/11	-	1
9-3879551-C-T	c.2173G>A	p.A725T	Missense	8/11	-	1
9-3879553-G-A	c.2171C>T	p.A724V	Missense	8/11	-	4
9-3879554-GCTGTTCCACTTCGGCTTGAATAATTGCTGGAGAAAATGGGAGCTGAAATCAAGGGAGAA-G	c.2129-17_2170del	-	Multi:SpliceDonorDeletion,SpliceAcceptorDeletion	8/11	7/10	1
9-3879557-T-C	c.2167A>G	p.T723A	Missense	8/11	-	1
9-3879562-C-T	c.2162G>A	p.S721N	Missense	8/11	-	2
9-3879564-TC-AT	c.2159_2160delinsAT	p.R720H	Missense	8/11	-	1
9-3879565-C-T	c.2159G>A	p.R720Q	Missense	8/11	-	2
9-3879567-G-A	c.2157C>T	p.S719=	Synonymous	8/11	-	2
9-3879568-C-G	c.2156G>C	p.S719T	Missense	8/11	-	1
9-3879569-T-C	c.2155A>G	p.S719G	Missense	8/11	-	1
9-3879571-G-C	c.2153C>G	p.S718*	Nonsense	8/11	-	1
9-3879573-A-T	c.2151T>A	p.Y717*	Nonsense	8/11	-	1
9-3879575-A-G	c.2149T>C	p.Y717H	Missense	8/11	-	1
9-3879584-A-C	c.2140T>G	p.S714A	Missense	8/11	-	1
9-3879585-G-C	c.2139C>G	p.F713L	Missense	8/11	-	1
9-3879585-G-T	c.2139C>A	p.F713L	Missense	8/11	-	1
9-3879587-A-G	c.2137T>C	p.F713L	Missense	8/11	-	1
9-3879646-G-A	c.2129-51C>T	-	IntronicSNV	-	7/10	2
9-3879693-C-T	c.2129-98G>A	-	IntronicSNV	-	7/10	5
9-3879791-G-A	c.2129-196C>T	-	IntronicSNV	-	7/10	2
9-3879791-G-T	c.2129-196C>A	-	IntronicSNV	-	7/10	2
9-3879818-C-T	c.2129-223G>A	-	IntronicSNV	-	7/10	1
9-3886787-A-G	c.2129-7192T>C	-	IntronicSNV	-	7/10	1
9-3890677-G-A	c.2128+8014C>T	-	IntronicSNV	-	7/10	1
9-3895360-C-A	c.2128+3331G>T	-	IntronicSNV	-	7/10	1
9-3895399-T-G	c.2128+3292A>C	-	IntronicSNV	-	7/10	1
9-3896887-G-A	c.2128+1804C>T	-	IntronicSNV	-	7/10	1
9-3897192-C-T	c.2128+1499G>A	-	IntronicSNV	-	7/10	1
9-3898271-T-G	c.2128+420A>C	-	IntronicSNV	-	7/10	1
9-3898436-A-G	c.2128+255T>C	-	IntronicSNV	-	7/10	1
9-3898509-A-T	c.2128+182T>A	-	IntronicSNV	-	7/10	3
9-3898627-T-C	c.2128+64A>G	-	IntronicSNV	-	7/10	1
9-3898635-G-T	c.2128+56C>A	-	IntronicSNV	-	7/10	1
9-3898693-G-A	c.2126C>T	p.S709L	Missense	7/11	-	1
9-3898697-A-G	c.2122T>C	p.Y708H	Missense	7/11	-	1
9-3898706-G-A	c.2113C>T	p.P705S	Missense	7/11	-	1
9-3898709-C-G	c.2110G>C	p.G704R	Missense	7/11	-	1
9-3898709-C-T	c.2110G>A	p.G704R	Missense	7/11	-	5
9-3898710-G-A	c.2109C>T	p.P703=	Synonymous	7/11	-	1
9-3898710-G-C	c.2109C>G	p.P703=	Synonymous	7/11	-	1
9-3898710-G-T	c.2109C>A	p.P703=	Synonymous	7/11	-	1
9-3898712-G-A	c.2107C>T	p.P703S	Missense	7/11	-	2
9-3898717-G-A	c.2102C>T	p.P701L	Missense	7/11	-	4
9-3898718-G-A	c.2101C>T	p.P701S	Missense	7/11	-	1
9-3898719-G-A	c.2100C>T	p.S700=	Synonymous	7/11	-	1
9-3898719-G-C	c.2100C>G	p.S700=	Synonymous	7/11	-	1
9-3898719-G-T	c.2100C>A	p.S700=	Synonymous	7/11	-	2
9-3898720-G-A	c.2099C>T	p.S700F	Missense	7/11	-	5
9-3898723-C-G	c.2096G>C	p.R699P	Missense	7/11	-	1
9-3898723-C-T	c.2096G>A	p.R699H	Missense	7/11	-	2
9-3898724-G-A	c.2095C>T	p.R699C	Missense	7/11	-	1
9-3898725-T-A	c.2094A>T	p.G698=	Synonymous	7/11	-	1
9-3898725-T-C	c.2094A>G	p.G698=	Synonymous	7/11	-	1
9-3898725-T-G	c.2094A>C	p.G698=	Synonymous	7/11	-	1
9-3898730-C-T	c.2089G>A	p.V697M	Missense	7/11	-	1
9-3898731-G-A	c.2088C>T	p.T696=	Synonymous	7/11	-	1
9-3898731-G-C	c.2088C>G	p.T696=	Synonymous	7/11	-	1
9-3898731-GG-CA	c.2087_2088delinsTG	p.T696M	Missense	7/11	-	1
9-3898731-G-T	c.2088C>A	p.T696=	Synonymous	7/11	-	1
9-3898735-C-T	c.2084G>A	p.G695E	Missense	7/11	-	1
9-3898742-C-T	c.2077G>A	p.A693T	Missense	7/11	-	1
9-3898747-G-A	c.2072C>T	p.A691V	Missense	7/11	-	1
9-3898751-C-CG	c.2067_2068insC	p.D690Rfs*5	Frameshift	7/11	-	1
9-3898751-C-T	c.2068G>A	p.D690N	Missense	7/11	-	1
9-3898758-G-A	c.2061C>T	p.S687=	Synonymous	7/11	-	1
9-3898762-G-A	c.2057C>T	p.T686I	Missense	7/11	-	4
9-3898767-C-A	c.2052G>T	p.P684=	Synonymous	7/11	-	2
9-3898767-C-G	c.2052G>C	p.P684=	Synonymous	7/11	-	2
9-3898767-C-T	c.2052G>A	p.P684=	Synonymous	7/11	-	2
9-3898768-G-A	c.2051C>T	p.P684L	Missense	7/11	-	1
9-3898769-G-A	c.2050C>T	p.P684S	Missense	7/11	-	2
9-3898769-G-T	c.2050C>A	p.P684T	Missense	7/11	-	2
9-3898778-A-G	c.2041T>C	p.S681P	Missense	7/11	-	1
9-3898783-A-G	c.2036T>C	p.V679A	Missense	7/11	-	1
9-3898784-C-T	c.2035G>A	p.V679M	Missense	7/11	-	2
9-3898785-G-A	c.2034C>T	p.T678=	Synonymous	7/11	-	1
9-3898791-G-A	c.2028C>T	p.C676=	Synonymous	7/11	-	1
9-3898792-C-A	c.2027G>T	p.C676F	Missense	7/11	-	1
9-3898796-C-G	c.2023G>C	p.D675H	Missense	7/11	-	2
9-3898796-C-T	c.2023G>A	p.D675N	Missense	7/11	-	2
9-3898798-G-A	c.2021C>T	p.T674I	Missense	7/11	-	1
9-3898798-G-T	c.2021C>A	p.T674K	Missense	7/11	-	2
9-3898802-G-A	c.2017C>T	p.L673F	Missense	7/11	-	1
9-3898806-G-C	c.2013C>G	p.D671E	Missense	7/11	-	1
9-3898813-T-G	c.2006A>C	p.H669P	Missense	7/11	-	1
9-3898816-A-G	c.2003T>C	p.L668P	Missense	7/11	-	1
9-3898818-C-A	c.2001G>T	p.E667D	Missense	7/11	-	1
9-3898818-C-G	c.2001G>C	p.E667D	Missense	7/11	-	1
9-3898819-T-G	c.2000A>C	p.E667A	Missense	7/11	-	1
9-3898823-T-C	c.1996A>G	p.T666A	Missense	7/11	-	2
9-3898824-G-C	c.1995C>G	p.S665R	Missense	7/11	-	1
9-3898825-C-T	c.1994G>A	p.S665N	Missense	7/11	-	1
9-3898828-G-A	c.1991C>T	p.S664F	Missense	7/11	-	1
9-3898833-C-A	c.1986G>T	p.L662F	Missense	7/11	-	1
9-3898834-AA-GG	c.1984_1985delinsCC	p.L662P	Missense	7/11	-	1
9-3900982-T-C	c.1984-2147A>G	-	IntronicSNV	-	6/10	1
9-3901081-C-T	c.1984-2246G>A	-	IntronicSNV	-	6/10	2
9-3905204-A-G	c.1984-6369T>C	-	IntronicSNV	-	6/10	1
9-3908216-T-A	c.1984-9381A>T	-	IntronicSNV	-	6/10	1
9-3908216-T-C	c.1984-9381A>G	-	IntronicSNV	-	6/10	1
9-3908705-T-G	c.1984-9870A>C	-	IntronicSNV	-	6/10	1
9-3911353-C-G	c.1984-12518G>C	-	IntronicSNV	-	6/10	1
9-3915326-A-G	c.1984-16491T>C	-	IntronicSNV	-	6/10	2
9-3915494-T-A	c.1984-16659A>T	-	IntronicSNV	-	6/10	2
9-3916648-A-G	c.1983+15712T>C	-	IntronicSNV	-	6/10	1
9-3916716-C-T	c.1983+15644G>A	-	IntronicSNV	-	6/10	1
9-3916723-C-T	c.1983+15637G>A	-	IntronicSNV	-	6/10	1
9-3916729-C-T	c.1983+15631G>A	-	IntronicSNV	-	6/10	1
9-3916761-C-T	c.1983+15599G>A	-	IntronicSNV	-	6/10	1
9-3916762-A-G	c.1983+15598T>C	-	IntronicSNV	-	6/10	1
9-3916763-T-A	c.1983+15597A>T	-	IntronicSNV	-	6/10	1
9-3916763-T-C	c.1983+15597A>G	-	IntronicSNV	-	6/10	1
9-3916766-C-A	c.1983+15594G>T	-	IntronicSNV	-	6/10	1
9-3922050-A-G	c.1983+10310T>C	-	IntronicSNV	-	6/10	1
9-3922235-C-A	c.1983+10125G>T	-	IntronicSNV	-	6/10	1
9-3923670-CAGAAAGTTTAAGATTACATGAAGA-C	c.1983+8666_1983+8689del	-	IntronicDeletion	-	6/10	1
9-3927704-T-C	c.1983+4656A>G	-	IntronicSNV	-	6/10	1
9-3927704-T-G	c.1983+4656A>C	-	IntronicSNV	-	6/10	1
9-3927841-A-C	c.1983+4519T>G	-	IntronicSNV	-	6/10	1
9-3928115-C-A	c.1983+4245G>T	-	IntronicSNV	-	6/10	1
9-3928115-C-T	c.1983+4245G>A	-	IntronicSNV	-	6/10	1
9-3928361-T-C	c.1983+3999A>G	-	IntronicSNV	-	6/10	1
9-3929424-C-A	c.1983+2936G>T	-	IntronicSNV	-	6/10	14
9-3929424-C-T	c.1983+2936G>A	-	IntronicSNV	-	6/10	14
9-3930251-T-A	c.1983+2109A>T	-	IntronicSNV	-	6/10	1
9-3932283-C-G	c.1983+77G>C	-	IntronicSNV	-	6/10	7
9-3932332-C-T	c.1983+28G>A	-	IntronicSNV	-	6/10	1
9-3932360-C-G	c.1983G>C	p.K661N	Missense	6/11	-	1
9-3932362-T-A	c.1981A>T	p.K661*	Nonsense	6/11	-	1
9-3932360-CT-C	c.1982del	p.K661Sfs*145	Frameshift	6/11	-	2
9-3932366-CCT-ACA	c.1975_1977delinsTGT	p.R659C	Missense	6/11	-	1
9-3932370-G-A	c.1973C>T	p.A658V	Missense	6/11	-	1
9-3932370-G-C	c.1973C>G	p.A658G	Missense	6/11	-	1
9-3932371-C-T	c.1972G>A	p.A658T	Missense	6/11	-	1
9-3932385-G-A	c.1958C>T	p.S653F	Missense	6/11	-	1
9-3932395-C-G	c.1948G>C	p.A650P	Missense	6/11	-	1
9-3932396-C-T	c.1947G>A	p.K649=	Synonymous	6/11	-	2
9-3932399-CAC-GAT	c.1942_1944delinsATC	p.V648I	Missense	6/11	-	1
9-3932403-T-C	c.1940A>G	p.H647R	Missense	6/11	-	2
9-3932421-G-A	c.1922C>T	p.P641L	Missense	6/11	-	3
9-3932425-C-G	c.1918G>C	p.D640H	Missense	6/11	-	1
9-3932427-G-T	c.1916C>A	p.T639K	Missense	6/11	-	1
9-3932428-T-C	c.1915A>G	p.T639A	Missense	6/11	-	2
9-3932430-T-C	c.1913A>G	p.Y638C	Missense	6/11	-	1
9-3932432-GCG-TCA	c.1909_1911delinsTGA	p.R637*	Nonsense	6/11	-	2
9-3932433-C-T	c.1910G>A	p.R637H	Missense	6/11	-	2
9-3932434-G-A	c.1909C>T	p.R637C	Missense	6/11	-	2
9-3932439-G-A	c.1904C>T	p.T635I	Missense	6/11	-	1
9-3932444-T-A	c.1899A>T	p.G633=	Synonymous	6/11	-	1
9-3932444-T-C	c.1899A>G	p.G633=	Synonymous	6/11	-	1
9-3932444-T-G	c.1899A>C	p.G633=	Synonymous	6/11	-	1
9-3932445-C-T	c.1898G>A	p.G633E	Missense	6/11	-	1
9-3932448-G-A	c.1895C>T	p.P632L	Missense	6/11	-	4
9-3932449-G-A	c.1894C>T	p.P632S	Missense	6/11	-	1
9-3932459-A-C	c.1884T>G	p.A628=	Synonymous	6/11	-	1
9-3932459-A-G	c.1884T>C	p.A628=	Synonymous	6/11	-	1
9-3932459-A-T	c.1884T>A	p.A628=	Synonymous	6/11	-	1
9-3932460-G-C	c.1883C>G	p.A628G	Missense	6/11	-	1
9-3932521-T-C	c.1873-51A>G	-	IntronicSNV	-	5/10	7
9-3932521-T-G	c.1873-51A>C	-	IntronicSNV	-	5/10	7
9-3932940-A-G	c.1873-470T>C	-	IntronicSNV	-	5/10	1
9-3936153-G-T	c.1872+875C>A	-	IntronicSNV	-	5/10	1
9-3937027-C-T	c.1872+1G>A	-	IntronicSNV	-	5/10	1
9-3937029-G-A	c.1871C>T	p.T624I	Missense	5/11	-	4
9-3937030-T-C	c.1870A>G	p.T624A	Missense	5/11	-	1
9-3937035-A-T	c.1865T>A	p.L622Q	Missense	5/11	-	1
9-3937037-A-C	c.1863T>G	p.H621Q	Missense	5/11	-	1
9-3937037-A-T	c.1863T>A	p.H621Q	Missense	5/11	-	1
9-3937041-G-A	c.1859C>T	p.T620M	Missense	5/11	-	1
9-3937044-C-T	c.1856G>A	p.R619Q	Missense	5/11	-	1
9-3937045-G-A	c.1855C>T	p.R619W	Missense	5/11	-	2
9-3937051-G-C	c.1849C>G	p.H617D	Missense	5/11	-	1
9-3937056-G-A	c.1844C>T	p.A615V	Missense	5/11	-	1
9-3937058-G-A	c.1842C>T	p.R614=	Synonymous	5/11	-	1
9-3937059-C-T	c.1841G>A	p.R614H	Missense	5/11	-	2
9-3937060-G-A	c.1840C>T	p.R614C	Missense	5/11	-	1
9-3937060-G-C	c.1840C>G	p.R614G	Missense	5/11	-	1
9-3937061-G-A	c.1839C>T	p.D613=	Synonymous	5/11	-	1
9-3937068-G-A	c.1832C>T	p.S611F	Missense	5/11	-	1
9-3937073-A-G	c.1827T>C	p.S609=	Synonymous	5/11	-	1
9-3937081-C-G	c.1819G>C	p.A607P	Missense	5/11	-	1
9-3937082-C-T	c.1818G>A	p.K606=	Synonymous	5/11	-	1
9-3937084-T-G	c.1816A>C	p.K606Q	Missense	5/11	-	2
9-3937085-C-T	c.1815G>A	p.Q605=	Synonymous	5/11	-	1
9-3937087-G-A	c.1813C>T	p.Q605*	Nonsense	5/11	-	1
9-3937095-G-A	c.1805C>T	p.P602L	Missense	5/11	-	1
9-3937098-T-A	c.1802A>T	p.H601L	Missense	5/11	-	1
9-3937102-G-T	c.1798C>A	p.Q600K	Missense	5/11	-	1
9-3937104-C-G	c.1796G>C	p.C599S	Missense	5/11	-	1
9-3937105-A-T	c.1795T>A	p.C599S	Missense	5/11	-	1
9-3937106-C-A	c.1794G>T	p.L598F	Missense	5/11	-	1
9-3937106-C-G	c.1794G>C	p.L598F	Missense	5/11	-	2
9-3937108-A-C	c.1792T>G	p.L598V	Missense	5/11	-	1
9-3937112-C-A	c.1788G>T	p.P596=	Synonymous	5/11	-	1
9-3937112-C-G	c.1788G>C	p.P596=	Synonymous	5/11	-	1
9-3937112-C-T	c.1788G>A	p.P596=	Synonymous	5/11	-	1
9-3937114-G-A	c.1786C>T	p.P596S	Missense	5/11	-	2
9-3937116-T-A	c.1784A>T	p.K595M	Missense	5/11	-	1
9-3937119-T-A	c.1781A>T	p.E594V	Missense	5/11	-	1
9-3937120-C-T	c.1780G>A	p.E594K	Missense	5/11	-	3
9-3937121-G-A	c.1779C>T	p.G593=	Synonymous	5/11	-	1
9-3937125-G-C	c.1775C>G	p.T592R	Missense	5/11	-	2
9-3937126-T-C	c.1774A>G	p.T592A	Missense	5/11	-	1
9-3937129-G-A	c.1771C>T	p.H591Y	Missense	5/11	-	1
9-3937133-C-T	c.1767G>A	p.R589=	Synonymous	5/11	-	3
9-3937133-C-A	c.1767G>T	p.R589=	Synonymous	5/11	-	3
9-3937133-C-G	c.1767G>C	p.R589=	Synonymous	5/11	-	1
9-3937135-CG-C	c.1765del	p.R589Gfs*56	Frameshift	5/11	-	1
9-3937135-G-A	c.1765C>T	p.R589W	Missense	5/11	-	5
9-3937135-G-T	c.1765C>A	p.R589=	Synonymous	5/11	-	1
9-3937141-G-A	c.1759C>T	p.H587Y	Missense	5/11	-	2
9-3937140-T-TG	c.1759dup	p.H587Pfs*24	Frameshift	5/11	-	1
9-3937156-C-G	c.1744G>C	p.E582Q	Missense	5/11	-	1
9-3937158-A-G	c.1742T>C	p.L581P	Missense	5/11	-	2
9-3937160-C-A	c.1740G>T	p.R580S	Missense	5/11	-	1
9-3937160-C-G	c.1740G>C	p.R580S	Missense	5/11	-	1
9-3937164-G-A	c.1736C>T	p.S579L	Missense	5/11	-	4
9-3937167-A-T	c.1733T>A	p.F578Y	Missense	5/11	-	1
9-3937168-A-G	c.1732T>C	p.F578L	Missense	5/11	-	1
9-3937169-G-A	c.1731C>T	p.A577=	Synonymous	5/11	-	2
9-3937169-G-C	c.1731C>G	p.A577=	Synonymous	5/11	-	1
9-3937169-G-T	c.1731C>A	p.A577=	Synonymous	5/11	-	1
9-3937170-G-A	c.1730C>T	p.A577V	Missense	5/11	-	2
9-3937170-G-C	c.1730C>G	p.A577G	Missense	5/11	-	1
9-3937174-T-C	c.1726A>G	p.K576E	Missense	5/11	-	1
9-3937177-C-T	c.1723G>A	p.E575K	Missense	5/11	-	3
9-3937181-A-C	c.1719T>G	p.G573=	Synonymous	5/11	-	1
9-3937181-A-G	c.1719T>C	p.G573=	Synonymous	5/11	-	1
9-3937181-A-T	c.1719T>A	p.G573=	Synonymous	5/11	-	1
9-3937183-C-T	c.1717G>A	p.G573S	Missense	5/11	-	2
9-3937255-T-A	c.1711-66A>T	-	IntronicSNV	-	4/10	9
9-3937255-T-G	c.1711-66A>C	-	IntronicSNV	-	4/10	9
9-3937288-G-A	c.1711-99C>T	-	IntronicSNV	-	4/10	7
9-3937351-A-G	c.1711-162T>C	-	IntronicSNV	-	4/10	4
9-3937351-A-T	c.1711-162T>A	-	IntronicSNV	-	4/10	4
9-3943125-C-T	c.1711-5936G>A	-	IntronicSNV	-	4/10	2
9-3944989-G-A	c.1711-7800C>T	-	IntronicSNV	-	4/10	1
9-3965689-C-A	c.1711-28500G>T	-	IntronicSNV	-	4/10	1
9-3965689-C-T	c.1711-28500G>A	-	IntronicSNV	-	4/10	1
9-3969013-T-C	c.1711-31824A>G	-	IntronicSNV	-	4/10	1
9-3971787-C-T	c.1711-34598G>A	-	IntronicSNV	-	4/10	1
9-3977035-C-T	c.1711-39846G>A	-	IntronicSNV	-	4/10	1
9-3994170-G-A	c.1711-56981C>T	-	IntronicSNV	-	4/10	1
9-4006296-A-G	c.1711-69107T>C	-	IntronicSNV	-	4/10	1
9-4006296-A-T	c.1711-69107T>A	-	IntronicSNV	-	4/10	1
9-4010513-A-C	c.1711-73324T>G	-	IntronicSNV	-	4/10	1
9-4013529-T-C	c.1711-76340A>G	-	IntronicSNV	-	4/10	1
9-4019624-C-A	c.1711-82435G>T	-	IntronicSNV	-	4/10	1
9-4019624-C-T	c.1711-82435G>A	-	IntronicSNV	-	4/10	1
9-4020237-C-A	c.1711-83048G>T	-	IntronicSNV	-	4/10	1
9-4020237-C-G	c.1711-83048G>C	-	IntronicSNV	-	4/10	1
9-4044350-T-A	c.1710+73418A>T	-	IntronicSNV	-	4/10	2
9-4047711-G-A	c.1710+70057C>T	-	IntronicSNV	-	4/10	1
9-4049808-G-A	c.1710+67960C>T	-	IntronicSNV	-	4/10	2
9-4050113-T-A	c.1710+67655A>T	-	IntronicSNV	-	4/10	1
9-4051538-C-T	c.1710+66230G>A	-	IntronicSNV	-	4/10	2
9-4054470-C-T	c.1710+63298G>A	-	IntronicSNV	-	4/10	1
9-4056475-T-C	c.1710+61293A>G	-	IntronicSNV	-	4/10	1
9-4057783-T-C	c.1710+59985A>G	-	IntronicSNV	-	4/10	1
9-4057785-A-G	c.1710+59983T>C	-	IntronicSNV	-	4/10	1
9-4059829-T-A	c.1710+57939A>T	-	IntronicSNV	-	4/10	1
9-4063089-CA-C	c.1710+54678del	-	IntronicDeletion	-	4/10	1
9-4067726-G-A	c.1710+50042C>T	-	IntronicSNV	-	4/10	1
9-4069657-T-C	c.1710+48111A>G	-	IntronicSNV	-	4/10	1
9-4069813-A-C	c.1710+47955T>G	-	IntronicSNV	-	4/10	1
9-4069813-A-G	c.1710+47955T>C	-	IntronicSNV	-	4/10	1
9-4069813-A-T	c.1710+47955T>A	-	IntronicSNV	-	4/10	1
9-4074238-C-T	c.1710+43530G>A	-	IntronicSNV	-	4/10	1
9-4076172-C-A	c.1710+41596G>T	-	IntronicSNV	-	4/10	1
9-4078237-C-G	c.1710+39531G>C	-	IntronicSNV	-	4/10	1
9-4078851-T-C	c.1710+38917A>G	-	IntronicSNV	-	4/10	2
9-4082124-T-C	c.1710+35644A>G	-	IntronicSNV	-	4/10	1
9-4082130-T-C	c.1710+35638A>G	-	IntronicSNV	-	4/10	1
9-4082303-A-G	c.1710+35465T>C	-	IntronicSNV	-	4/10	1
9-4082321-T-G	c.1710+35447A>C	-	IntronicSNV	-	4/10	1
9-4082610-A-C	c.1710+35158T>G	-	IntronicSNV	-	4/10	1
9-4082643-T-C	c.1710+35125A>G	-	IntronicSNV	-	4/10	1
9-4083665-T-G	c.1710+34103A>C	-	IntronicSNV	-	4/10	1
9-4083863-T-C	c.1710+33905A>G	-	IntronicSNV	-	4/10	1
9-4090455-A-T	c.1710+27313T>A	-	IntronicSNV	-	4/10	1
9-4090454-TA-T	c.1710+27313del	-	IntronicDeletion	-	4/10	1
9-4090876-T-C	c.1710+26892A>G	-	IntronicSNV	-	4/10	2
9-4090876-T-G	c.1710+26892A>C	-	IntronicSNV	-	4/10	2
9-4090931-T-G	c.1710+26837A>C	-	IntronicSNV	-	4/10	1
9-4091933-TA-T	c.1710+25834del	-	IntronicDeletion	-	4/10	1
9-4092700-C-T	c.1710+25068G>A	-	IntronicSNV	-	4/10	1
9-4099868-T-A	c.1710+17900A>T	-	IntronicSNV	-	4/10	1
9-4104571-C-G	c.1710+13197G>C	-	IntronicSNV	-	4/10	1
9-4104581-C-T	c.1710+13187G>A	-	IntronicSNV	-	4/10	2
9-4105330-A-C	c.1710+12438T>G	-	IntronicSNV	-	4/10	1
9-4106283-T-C	c.1710+11485A>G	-	IntronicSNV	-	4/10	1
9-4106287-C-T	c.1710+11481G>A	-	IntronicSNV	-	4/10	1
9-4106298-C-T	c.1710+11470G>A	-	IntronicSNV	-	4/10	1
9-4106335-T-C	c.1710+11433A>G	-	IntronicSNV	-	4/10	1
9-4106357-T-C	c.1710+11411A>G	-	IntronicSNV	-	4/10	1
9-4106381-G-A	c.1710+11387C>T	-	IntronicSNV	-	4/10	1
9-4106521-C-T	c.1710+11247G>A	-	IntronicSNV	-	4/10	1
9-4107752-TAA-T	c.1710+10014_1710+10015del	-	IntronicDeletion	-	4/10	1
9-4110947-G-A	c.1710+6821C>T	-	IntronicSNV	-	4/10	1
9-4110947-G-C	c.1710+6821C>G	-	IntronicSNV	-	4/10	1
9-4112703-T-C	c.1710+5065A>G	-	IntronicSNV	-	4/10	2
9-4116004-G-A	c.1710+1764C>T	-	IntronicSNV	-	4/10	1
9-4116004-G-C	c.1710+1764C>G	-	IntronicSNV	-	4/10	1
9-4117713-C-A	c.1710+55G>T	-	IntronicSNV	-	4/10	5
9-4117713-C-G	c.1710+55G>C	-	IntronicSNV	-	4/10	5
9-4117713-C-T	c.1710+55G>A	-	IntronicSNV	-	4/10	5
9-4117765-C-T	c.1710+3G>A	-	IntronicSNV	-	4/10	1
9-4117769-G-A	c.1709C>T	p.T570M	Missense	4/11	-	2
9-4117773-A-G	c.1705T>C	p.C569R	Missense	4/11	-	2
9-4117779-T-G	c.1699A>C	p.N567H	Missense	4/11	-	1
9-4117786-C-G	c.1692G>C	p.E564D	Missense	4/11	-	1
9-4117788-C-T	c.1690G>A	p.E564K	Missense	4/11	-	1
9-4117792-CA-C	c.1686del	p.E564Rfs*81	Frameshift	4/11	-	1
9-4117795-G-A	c.1683C>T	p.H561=	Synonymous	4/11	-	2
9-4117797-G-A	c.1681C>T	p.H561Y	Missense	4/11	-	5
9-4117798-G-T	c.1680C>A	p.V560=	Synonymous	4/11	-	1
9-4117800-C-A	c.1678G>T	p.V560F	Missense	4/11	-	1
9-4117803-T-A	c.1675A>T	p.R559*	Nonsense	4/11	-	2
9-4117813-C-T	c.1665G>A	p.L555=	Synonymous	4/11	-	1
9-4117821-T-C	c.1657A>G	p.K553E	Missense	4/11	-	2
9-4117826-C-T	c.1652G>A	p.R551H	Missense	4/11	-	2
9-4117824-AGCGG-A	c.1650_1653del	p.R551Ifs*4	Frameshift	4/11	-	1
9-4117830-C-T	c.1648G>A	p.A550T	Missense	4/11	-	2
9-4117839-G-A	c.1639C>T	p.P547S	Missense	4/11	-	1
9-4117843-G-A	c.1635C>T	p.Y545=	Synonymous	4/11	-	1
9-4117846-TCT-ACA	c.1630_1632delinsTGT	p.R544C	Missense	4/11	-	1
9-4117847-C-G	c.1631G>C	p.R544T	Missense	4/11	-	1
9-4117847-C-T	c.1631G>A	p.R544K	Missense	4/11	-	1
9-4117851-G-C	c.1627C>G	p.R543G	Missense	4/11	-	1
9-4117853-G-A	c.1625C>T	p.P542L	Missense	4/11	-	1
9-4117855-G-T	c.1623C>A	p.C541*	Nonsense	4/11	-	1
9-4117856-C-T	c.1622G>A	p.C541Y	Missense	4/11	-	1
9-4117860-C-A	c.1618G>T	p.G540C	Missense	4/11	-	1
9-4117860-C-G	c.1618G>C	p.G540R	Missense	4/11	-	2
9-4117860-C-T	c.1618G>A	p.G540S	Missense	4/11	-	3
9-4117861-G-A	c.1617C>T	p.A539=	Synonymous	4/11	-	1
9-4117863-C-T	c.1615G>A	p.A539T	Missense	4/11	-	1
9-4117864-C-T	c.1614G>A	p.W538*	Nonsense	4/11	-	1
9-4117870-G-C	c.1608C>G	p.C536W	Missense	4/11	-	5
9-4117871-C-CA	c.1606dup	p.C536Lfs*18	Frameshift	4/11	-	1
9-4117874-G-A	c.1604C>T	p.T535I	Missense	4/11	-	1
9-4117875-T-C	c.1603A>G	p.T535A	Missense	4/11	-	1
9-4117876-G-C	c.1602C>G	p.F534L	Missense	4/11	-	1
9-4117876-G-T	c.1602C>A	p.F534L	Missense	4/11	-	1
9-4117878-A-G	c.1600T>C	p.F534L	Missense	4/11	-	1
9-4117881-C-T	c.1597G>A	p.D533N	Missense	4/11	-	2
9-4117890-T-C	c.1588A>G	p.K530E	Missense	4/11	-	1
9-4117892-C-T	c.1586G>A	p.R529H	Missense	4/11	-	3
9-4117893-G-A	c.1585C>T	p.R529C	Missense	4/11	-	1
9-4117896-G-A	c.1582C>T	p.Q528*	Nonsense	4/11	-	1
9-4117899-C-T	c.1579G>A	p.D527N	Missense	4/11	-	5
9-4117900-G-A	c.1578C>T	p.I526=	Synonymous	4/11	-	1
9-4117903-G-A	c.1575C>T	p.H525=	Synonymous	4/11	-	2
9-4117906-GAC-CAT	c.1570_1572delinsATG	p.V524M	Missense	4/11	-	2
9-4117907-A-G	c.1571T>C	p.V524A	Missense	4/11	-	2
9-4117908-C-T	c.1570G>A	p.V524I	Missense	4/11	-	2
9-4117909-C-A	c.1569G>T	p.K523N	Missense	4/11	-	1
9-4117911-T-C	c.1567A>G	p.K523E	Missense	4/11	-	2
9-4117914-C-G	c.1564G>C	p.E522Q	Missense	4/11	-	1
9-4117914-C-T	c.1564G>A	p.E522K	Missense	4/11	-	1
9-4117915-G-A	c.1563C>T	p.I521=	Synonymous	4/11	-	3
9-4117915-G-T	c.1563C>A	p.I521=	Synonymous	4/11	-	3
9-4117916-A-G	c.1562T>C	p.I521T	Missense	4/11	-	2
9-4117917-T-C	c.1561A>G	p.I521V	Missense	4/11	-	1
9-4117918-G-C	c.1560C>G	p.H520Q	Missense	4/11	-	1
9-4117918-G-T	c.1560C>A	p.H520Q	Missense	4/11	-	1
9-4117921-CC-AT	c.1556_1557delinsAT	p.R519H	Missense	4/11	-	1
9-4117922-C-T	c.1556G>A	p.R519Q	Missense	4/11	-	3
9-4117923-G-A	c.1555C>T	p.R519W	Missense	4/11	-	2
9-4117929-G-C	c.1549C>G	p.L517V	Missense	4/11	-	1
9-4117933-C-A	c.1545G>T	p.E515D	Missense	4/11	-	5
9-4117933-C-G	c.1545G>C	p.E515D	Missense	4/11	-	10
9-4117942-G-A	c.1536C>T	p.D512=	Synonymous	4/11	-	1
9-4117942-G-C	c.1536C>G	p.D512E	Missense	4/11	-	4
9-4117942-G-T	c.1536C>A	p.D512E	Missense	4/11	-	4
9-4117944-C-T	c.1534G>A	p.D512N	Missense	4/11	-	1
9-4117945-G-A	c.1533C>T	p.Y511=	Synonymous	4/11	-	3
9-4117945-G-C	c.1533C>G	p.Y511*	Nonsense	4/11	-	1
9-4117947-A-C	c.1531T>G	p.Y511D	Missense	4/11	-	3
9-4117952-G-A	c.1526C>T	p.A509V	Missense	4/11	-	1
9-4117955-C-T	c.1523G>A	p.S508N	Missense	4/11	-	1
9-4117959-A-C	c.1519T>G	p.C507G	Missense	4/11	-	1
9-4117962-C-A	c.1516G>T	p.D506Y	Missense	4/11	-	1
9-4117962-C-T	c.1516G>A	p.D506N	Missense	4/11	-	2
9-4117963-G-A	c.1515C>T	p.I505=	Synonymous	4/11	-	1
9-4117966-C-A	c.1512G>T	p.W504C	Missense	4/11	-	1
9-4117970-C-T	c.1508G>A	p.R503H	Missense	4/11	-	1
9-4117971-G-A	c.1507C>T	p.R503C	Missense	4/11	-	1
9-4117972-G-A	c.1506C>T	p.C502=	Synonymous	4/11	-	1
9-4117976-C-A	c.1502G>T	p.C501F	Missense	4/11	-	1
9-4117978-A-C	c.1500T>G	p.H500Q	Missense	4/11	-	1
9-4117978-A-T	c.1500T>A	p.H500Q	Missense	4/11	-	1
9-4117981-C-T	c.1497G>A	p.K499=	Synonymous	4/11	-	1
9-4117986-C-A	c.1492G>T	p.G498C	Missense	4/11	-	1
9-4117989-C-G	c.1489G>C	p.G497R	Missense	4/11	-	1
9-4117989-C-T	c.1489G>A	p.G497R	Missense	4/11	-	1
9-4117990-G-A	c.1488C>T	p.I496=	Synonymous	4/11	-	1
9-4117990-GA-CT	c.1487_1488delinsAG	p.I496K	Missense	4/11	-	1
9-4117990-G-C	c.1488C>G	p.I496M	Missense	4/11	-	1
9-4117990-G-T	c.1488C>A	p.I496=	Synonymous	4/11	-	1
9-4117991-A-T	c.1487T>A	p.I496N	Missense	4/11	-	1
9-4117993-G-A	c.1485C>T	p.G495=	Synonymous	4/11	-	1
9-4117997-T-C	c.1481A>G	p.D494G	Missense	4/11	-	1
9-4118000-A-G	c.1478T>C	p.M493T	Missense	4/11	-	1
9-4118004-C-T	c.1474G>A	p.E492K	Missense	4/11	-	1
9-4118007-C-G	c.1471G>C	p.G491R	Missense	4/11	-	1
9-4118007-C-T	c.1471G>A	p.G491R	Missense	4/11	-	2
9-4118008-G-T	c.1470C>A	p.D490E	Missense	4/11	-	1
9-4118009-T-C	c.1469A>G	p.D490G	Missense	4/11	-	1
9-4118010-C-T	c.1468G>A	p.D490N	Missense	4/11	-	3
9-4118012-T-A	c.1466A>T	p.D489V	Missense	4/11	-	1
9-4118013-C-T	c.1465G>A	p.D489N	Missense	4/11	-	3
9-4118023-TGGC-T	c.1453_1455del	p.A485del	InFrameDeletion	4/11	-	1
9-4118024-G-A	c.1454C>T	p.A485V	Missense	4/11	-	1
9-4118025-C-T	c.1453G>A	p.A485T	Missense	4/11	-	1
9-4118026-C-T	c.1452G>A	p.Q484=	Synonymous	4/11	-	1
9-4118027-T-C	c.1451A>G	p.Q484R	Missense	4/11	-	1
9-4118030-G-A	c.1448C>T	p.P483L	Missense	4/11	-	3
9-4118031-G-A	c.1447C>T	p.P483S	Missense	4/11	-	1
9-4118031-G-T	c.1447C>A	p.P483T	Missense	4/11	-	1
9-4118044-C-A	c.1434G>T	p.Q478H	Missense	4/11	-	1
9-4118048-G-A	c.1430C>T	p.A477V	Missense	4/11	-	1
9-4118049-C-T	c.1429G>A	p.A477T	Missense	4/11	-	1
9-4118050-G-T	c.1428C>A	p.H476Q	Missense	4/11	-	1
9-4118054-G-A	c.1424C>T	p.P475L	Missense	4/11	-	1
9-4118054-G-T	c.1424C>A	p.P475H	Missense	4/11	-	1
9-4118055-G-C	c.1423C>G	p.P475A	Missense	4/11	-	1
9-4118056-C-T	c.1422G>A	p.G474=	Synonymous	4/11	-	1
9-4118058-C-G	c.1420G>C	p.G474R	Missense	4/11	-	1
9-4118061-G-A	c.1417C>T	p.L473F	Missense	4/11	-	2
9-4118061-G-C	c.1417C>G	p.L473V	Missense	4/11	-	1
9-4118062-C-A	c.1416G>T	p.E472D	Missense	4/11	-	2
9-4118065-C-A	c.1413G>T	p.P471=	Synonymous	4/11	-	2
9-4118065-C-G	c.1413G>C	p.P471=	Synonymous	4/11	-	2
9-4118065-C-T	c.1413G>A	p.P471=	Synonymous	4/11	-	2
9-4118066-G-C	c.1412C>G	p.P471R	Missense	4/11	-	1
9-4118067-G-A	c.1411C>T	p.P471S	Missense	4/11	-	1
9-4118073-G-A	c.1405C>T	p.H469Y	Missense	4/11	-	1
9-4118075-A-G	c.1403T>C	p.L468P	Missense	4/11	-	1
9-4118075-A-T	c.1403T>A	p.L468H	Missense	4/11	-	1
9-4118078-T-C	c.1400A>G	p.H467R	Missense	4/11	-	1
9-4118080-C-T	c.1398G>A	p.A466=	Synonymous	4/11	-	1
9-4118083-A-C	c.1395T>G	p.H465Q	Missense	4/11	-	1
9-4118083-A-T	c.1395T>A	p.H465Q	Missense	4/11	-	1
9-4118084-T-A	c.1394A>T	p.H465L	Missense	4/11	-	1
9-4118087-G-A	c.1391C>T	p.A464V	Missense	4/11	-	1
9-4118090-T-G	c.1388A>C	p.H463P	Missense	4/11	-	1
9-4118091-G-A	c.1387C>T	p.H463Y	Missense	4/11	-	2
9-4118095-A-T	c.1383T>A	p.P461=	Synonymous	4/11	-	1
9-4118095-AG-A	c.1382del	p.P461Lfs*95	Frameshift	4/11	-	1
9-4118103-G-A	c.1375C>T	p.P459S	Missense	4/11	-	1
9-4118109-C-G	c.1369G>C	p.G457R	Missense	4/11	-	1
9-4118109-C-T	c.1369G>A	p.G457S	Missense	4/11	-	2
9-4118110-T-A	c.1368A>T	p.P456=	Synonymous	4/11	-	1
9-4118110-T-C	c.1368A>G	p.P456=	Synonymous	4/11	-	1
9-4118110-T-G	c.1368A>C	p.P456=	Synonymous	4/11	-	1
9-4118111-G-T	c.1367C>A	p.P456Q	Missense	4/11	-	36
9-4118116-C-A	c.1362G>T	p.P454=	Synonymous	4/11	-	3
9-4118116-C-G	c.1362G>C	p.P454=	Synonymous	4/11	-	1
9-4118116-C-T	c.1362G>A	p.P454=	Synonymous	4/11	-	1
9-4118119-C-A	c.1359G>T	p.P453=	Synonymous	4/11	-	2
9-4118119-C-G	c.1359G>C	p.P453=	Synonymous	4/11	-	1
9-4118119-C-T	c.1359G>A	p.P453=	Synonymous	4/11	-	1
9-4118120-G-T	c.1358C>A	p.P453Q	Missense	4/11	-	1
9-4118124-G-A	c.1354C>T	p.L452=	Synonymous	4/11	-	1
9-4118127-G-A	c.1351C>T	p.P451S	Missense	4/11	-	1
9-4118132-A-G	c.1346T>C	p.L449P	Missense	4/11	-	1
9-4118134-C-T	c.1344G>A	p.P448=	Synonymous	4/11	-	1
9-4118138-G-A	c.1340C>T	p.P447L	Missense	4/11	-	4
9-4118141-G-A	c.1337C>T	p.A446V	Missense	4/11	-	3
9-4118143-G-A	c.1335C>T	p.P445=	Synonymous	4/11	-	1
9-4118143-G-C	c.1335C>G	p.P445=	Synonymous	4/11	-	1
9-4118143-G-T	c.1335C>A	p.P445=	Synonymous	4/11	-	1
9-4118145-G-A	c.1333C>T	p.P445S	Missense	4/11	-	1
9-4118146-G-T	c.1332C>A	p.P444=	Synonymous	4/11	-	1
9-4118142-C-CG	c.1335dup	p.A446Rfs*108	Frameshift	4/11	-	1
9-4118142-CG-C	c.1335del	p.A446Rfs*110	Frameshift	4/11	-	2
9-4118148-G-A	c.1330C>T	p.P444S	Missense	4/11	-	3
9-4118151-G-A	c.1327C>T	p.L443=	Synonymous	4/11	-	2
9-4118160-T-C	c.1318A>G	p.T440A	Missense	4/11	-	1
9-4118161-G-T	c.1317C>A	p.S439R	Missense	4/11	-	1
9-4118164-G-A	c.1314C>T	p.G438=	Synonymous	4/11	-	1
9-4118167-C-A	c.1311G>T	p.P437=	Synonymous	4/11	-	1
9-4118167-C-G	c.1311G>C	p.P437=	Synonymous	4/11	-	1
9-4118167-C-T	c.1311G>A	p.P437=	Synonymous	4/11	-	1
9-4118168-G-A	c.1310C>T	p.P437L	Missense	4/11	-	2
9-4118170-G-A	c.1308C>T	p.F436=	Synonymous	4/11	-	1
9-4118172-A-C	c.1306T>G	p.F436V	Missense	4/11	-	1
9-4118178-C-A	c.1300G>T	p.E434*	Nonsense	4/11	-	1
9-4118180-AG-A	c.1297del	p.L433Wfs*9	Frameshift	4/11	-	1
9-4118182-G-A	c.1296C>T	p.R432=	Synonymous	4/11	-	1
9-4118182-G-C	c.1296C>G	p.R432=	Synonymous	4/11	-	1
9-4118182-G-T	c.1296C>A	p.R432=	Synonymous	4/11	-	1
9-4118183-C-T	c.1295G>A	p.R432H	Missense	4/11	-	1
9-4118184-G-A	c.1294C>T	p.R432C	Missense	4/11	-	4
9-4118188-G-A	c.1290C>T	p.T430=	Synonymous	4/11	-	1
9-4118189-G-C	c.1289C>G	p.T430S	Missense	4/11	-	2
9-4118195-A-G	c.1283T>C	p.F428S	Missense	4/11	-	2
9-4118201-C-T	c.1277G>A	p.G426D	Missense	4/11	-	1
9-4118204-G-A	c.1274C>T	p.A425V	Missense	4/11	-	1
9-4118207-G-A	c.1271C>T	p.S424L	Missense	4/11	-	1
9-4118208-A-G	c.1270T>C	p.S424P	Missense	4/11	-	37
9-4118212-G-A	c.1266C>T	p.S422=	Synonymous	4/11	-	2
9-4118212-G-C	c.1266C>G	p.S422R	Missense	4/11	-	1
9-4118212-G-T	c.1266C>A	p.S422R	Missense	4/11	-	1
9-4118214-T-G	c.1264A>C	p.S422R	Missense	4/11	-	1
9-4118217-C-A	c.1261G>T	p.D421Y	Missense	4/11	-	1
9-4118216-TCGGGGCCCGGCAGGCCATGCTGCACCA-T	c.1235_1261del	p.V412_P420del	InFrameDeletion	4/11	-	1
9-4118218-GG-TT	c.1259_1260delinsAA	p.P420Q	Missense	4/11	-	1
9-4118219-G-A	c.1259C>T	p.P420L	Missense	4/11	-	1
9-4118219-G-T	c.1259C>A	p.P420H	Missense	4/11	-	1
9-4118226-G-A	c.1252C>T	p.P418S	Missense	4/11	-	1
9-4118231-C-A	c.1247G>T	p.G416V	Missense	4/11	-	1
9-4118231-C-T	c.1247G>A	p.G416D	Missense	4/11	-	1
9-4118232-C-G	c.1246G>C	p.G416R	Missense	4/11	-	1
9-4118232-C-T	c.1246G>A	p.G416S	Missense	4/11	-	3
9-4118234-T-C	c.1244A>G	p.H415R	Missense	4/11	-	1
9-4118234-T-G	c.1244A>C	p.H415P	Missense	4/11	-	1
9-4118236-C-T	c.1242G>A	p.Q414=	Synonymous	4/11	-	1
9-4118249-TG-T	c.1228del	p.H410Tfs*32	Frameshift	4/11	-	1
9-4118251-G-T	c.1227C>A	p.N409K	Missense	4/11	-	1
9-4118256-C-T	c.1222G>A	p.V408I	Missense	4/11	-	2
9-4118260-G-A	c.1218C>T	p.G406=	Synonymous	4/11	-	1
9-4118265-G-T	c.1213C>A	p.P405T	Missense	4/11	-	1
9-4118266-C-T	c.1212G>A	p.Q404=	Synonymous	4/11	-	1
9-4118272-G-T	c.1206C>A	p.G402=	Synonymous	4/11	-	1
9-4118276-GCC-G	c.1201_1202del	p.G401Rfs*152	Frameshift	4/11	-	1
9-4118278-G-A	c.1200C>T	p.H400=	Synonymous	4/11	-	1
9-4118278-G-C	c.1200C>G	p.H400Q	Missense	4/11	-	7
9-4118278-G-T	c.1200C>A	p.H400Q	Missense	4/11	-	4
9-4118279-T-C	c.1199A>G	p.H400R	Missense	4/11	-	4
9-4118284-CAG-AAA	c.1192_1194delinsTTT	p.L398F	Missense	4/11	-	1
9-4118287-C-A	c.1191G>T	p.Q397H	Missense	4/11	-	4
9-4118287-C-G	c.1191G>C	p.Q397H	Missense	4/11	-	5
9-4118290-T-C	c.1188A>G	p.Q396=	Synonymous	4/11	-	1
9-4118292-G-A	c.1186C>T	p.Q396*	Nonsense	4/11	-	1
9-4118293-C-A	c.1185G>T	p.M395I	Missense	4/11	-	1
9-4118293-C-G	c.1185G>C	p.M395I	Missense	4/11	-	1
9-4118293-C-T	c.1185G>A	p.M395I	Missense	4/11	-	1
9-4118296-G-A	c.1182C>T	p.R394=	Synonymous	4/11	-	1
9-4118296-GC-TT	c.1181_1182delinsAA	p.R394Q	Missense	4/11	-	1
9-4118297-C-T	c.1181G>A	p.R394H	Missense	4/11	-	1
9-4118298-G-A	c.1180C>T	p.R394C	Missense	4/11	-	1
9-4118301-C-A	c.1177G>T	p.E393*	Nonsense	4/11	-	1
9-4118301-C-T	c.1177G>A	p.E393K	Missense	4/11	-	2
9-4118303-T-TG	c.1174dup	p.H392Pfs*162	Frameshift	4/11	-	1
9-4118306-T-C	c.1172A>G	p.E391G	Missense	4/11	-	2
9-4118315-C-T	c.1163G>A	p.G388E	Missense	4/11	-	1
9-4118316-C-T	c.1162G>A	p.G388R	Missense	4/11	-	1
9-4118317-G-A	c.1161C>T	p.D387=	Synonymous	4/11	-	1
9-4118319-C-T	c.1159G>A	p.D387N	Missense	4/11	-	1
9-4118322-C-T	c.1156G>A	p.E386K	Missense	4/11	-	1
9-4118323-G-A	c.1155C>T	p.G385=	Synonymous	4/11	-	1
9-4118324-C-A	c.1154G>T	p.G385V	Missense	4/11	-	1
9-4118325-C-G	c.1153G>C	p.G385R	Missense	4/11	-	4
9-4118325-C-T	c.1153G>A	p.G385S	Missense	4/11	-	2
9-4118333-G-T	c.1145C>A	p.P382Q	Missense	4/11	-	1
9-4118338-C-A	c.1140G>T	p.A380=	Synonymous	4/11	-	1
9-4118338-C-G	c.1140G>C	p.A380=	Synonymous	4/11	-	1
9-4118338-C-T	c.1140G>A	p.A380=	Synonymous	4/11	-	1
9-4118341-C-A	c.1137G>T	p.L379=	Synonymous	4/11	-	1
9-4118341-C-G	c.1137G>C	p.L379=	Synonymous	4/11	-	1
9-4118341-C-T	c.1137G>A	p.L379=	Synonymous	4/11	-	1
9-4118343-G-A	c.1135C>T	p.L379=	Synonymous	4/11	-	1
9-4118344-G-A	c.1134C>T	p.G378=	Synonymous	4/11	-	1
9-4118344-G-C	c.1134C>G	p.G378=	Synonymous	4/11	-	1
9-4118344-G-T	c.1134C>A	p.G378=	Synonymous	4/11	-	1
9-4118346-C-T	c.1132G>A	p.G378S	Missense	4/11	-	1
9-4118351-G-A	c.1127C>T	p.P376L	Missense	4/11	-	1
9-4118352-G-A	c.1126C>T	p.P376S	Missense	4/11	-	2
9-4118354-G-A	c.1124C>T	p.A375V	Missense	4/11	-	3
9-4118358-C-A	c.1120G>T	p.V374L	Missense	4/11	-	1
9-4118358-C-G	c.1120G>C	p.V374L	Missense	4/11	-	1
9-4118361-G-C	c.1117C>G	p.L373V	Missense	4/11	-	3
9-4118364-C-T	c.1114G>A	p.V372M	Missense	4/11	-	4
9-4118369-T-C	c.1109A>G	p.K370R	Missense	4/11	-	1
9-4118371-C-A	c.1107G>T	p.Q369H	Missense	4/11	-	1
9-4118374-G-A	c.1104C>T	p.S368=	Synonymous	4/11	-	1
9-4118379-C-T	c.1099G>A	p.G367S	Missense	4/11	-	2
9-4118385-C-T	c.1093G>A	p.V365M	Missense	4/11	-	1
9-4118387-G-A	c.1091C>T	p.P364L	Missense	4/11	-	1
9-4118388-G-A	c.1090C>T	p.P364S	Missense	4/11	-	4
9-4118390-C-T	c.1088G>A	p.R363H	Missense	4/11	-	1
9-4118392-C-A	c.1086G>T	p.P362=	Synonymous	4/11	-	1
9-4118392-C-G	c.1086G>C	p.P362=	Synonymous	4/11	-	1
9-4118392-C-T	c.1086G>A	p.P362=	Synonymous	4/11	-	2
9-4118393-G-A	c.1085C>T	p.P362L	Missense	4/11	-	1
9-4118393-G-C	c.1085C>G	p.P362R	Missense	4/11	-	1
9-4118393-G-T	c.1085C>A	p.P362Q	Missense	4/11	-	3
9-4118396-T-C	c.1082A>G	p.Q361R	Missense	4/11	-	2
9-4118400-G-A	c.1078C>T	p.P360S	Missense	4/11	-	2
9-4118400-G-T	c.1078C>A	p.P360T	Missense	4/11	-	1
9-4118413-G-A	c.1065C>T	p.R355=	Synonymous	4/11	-	2
9-4118415-G-A	c.1063C>T	p.R355C	Missense	4/11	-	1
9-4118418-C-T	c.1060G>A	p.V354M	Missense	4/11	-	1
9-4118419-G-A	c.1059C>T	p.G353=	Synonymous	4/11	-	1
9-4118419-G-C	c.1059C>G	p.G353=	Synonymous	4/11	-	1
9-4118419-G-T	c.1059C>A	p.G353=	Synonymous	4/11	-	1
9-4118425-G-A	c.1053C>T	p.F351=	Synonymous	4/11	-	1
9-4118434-G-A	c.1044C>T	p.Y348=	Synonymous	4/11	-	1
9-4118439-C-T	c.1039G>A	p.V347I	Missense	4/11	-	1
9-4118444-G-A	c.1034C>T	p.P345L	Missense	4/11	-	1
9-4118445-G-A	c.1033C>T	p.P345S	Missense	4/11	-	1
9-4118451-G-T	c.1027C>A	p.P343T	Missense	4/11	-	1
9-4118452-G-A	c.1026C>T	p.S342=	Synonymous	4/11	-	1
9-4118452-G-C	c.1026C>G	p.S342=	Synonymous	4/11	-	1
9-4118452-G-T	c.1026C>A	p.S342=	Synonymous	4/11	-	1
9-4118453-G-T	c.1025C>A	p.S342Y	Missense	4/11	-	3
9-4118456-A-G	c.1022T>C	p.L341P	Missense	4/11	-	1
9-4118457-G-A	c.1021C>T	p.L341=	Synonymous	4/11	-	1
9-4118457-G-C	c.1021C>G	p.L341V	Missense	4/11	-	1
9-4118462-G-T	c.1016C>A	p.A339D	Missense	4/11	-	1
9-4118463-C-G	c.1015G>C	p.A339P	Missense	4/11	-	1
9-4118463-C-T	c.1015G>A	p.A339T	Missense	4/11	-	2
9-4118467-C-A	c.1011G>T	p.S337=	Synonymous	4/11	-	1
9-4118467-C-G	c.1011G>C	p.S337=	Synonymous	4/11	-	1
9-4118467-C-T	c.1011G>A	p.S337=	Synonymous	4/11	-	1
9-4118468-G-A	c.1010C>T	p.S337L	Missense	4/11	-	4
9-4118471-G-A	c.1007C>T	p.A336V	Missense	4/11	-	1
9-4118471-G-C	c.1007C>G	p.A336G	Missense	4/11	-	1
9-4118472-C-T	c.1006G>A	p.A336T	Missense	4/11	-	2
9-4118474-C-T	c.1004G>A	p.R335K	Missense	4/11	-	1
9-4118476-C-A	c.1002G>T	p.S334=	Synonymous	4/11	-	1
9-4118476-C-G	c.1002G>C	p.S334=	Synonymous	4/11	-	1
9-4118476-C-T	c.1002G>A	p.S334=	Synonymous	4/11	-	1
9-4118480-C-T	c.998G>A	p.G333E	Missense	4/11	-	2
9-4118481-C-G	c.997G>C	p.G333R	Missense	4/11	-	2
9-4118481-C-T	c.997G>A	p.G333R	Missense	4/11	-	4
9-4118484-T-A	c.994A>T	p.N332Y	Missense	4/11	-	1
9-4118486-A-G	c.992T>C	p.I331T	Missense	4/11	-	2
9-4118486-A-T	c.992T>A	p.I331N	Missense	4/11	-	1
9-4118488-G-T	c.990C>A	p.Y330*	Nonsense	4/11	-	1
9-4118489-T-A	c.989A>T	p.Y330F	Missense	4/11	-	1
9-4118493-C-A	c.985G>T	p.A329S	Missense	4/11	-	1
9-4118497-C-T	c.981G>A	p.L327=	Synonymous	4/11	-	1
9-4118499-A-G	c.979T>C	p.L327=	Synonymous	4/11	-	1
9-4118501-GA-AG	c.976_977delinsCT	p.S326L	Missense	4/11	-	1
9-4118501-G-C	c.977C>G	p.S326C	Missense	4/11	-	1
9-4118504-G-A	c.974C>T	p.T325M	Missense	4/11	-	1
9-4118509-C-A	c.969G>T	p.S323=	Synonymous	4/11	-	1
9-4118509-C-G	c.969G>C	p.S323=	Synonymous	4/11	-	1
9-4118509-C-T	c.969G>A	p.S323=	Synonymous	4/11	-	1
9-4118510-G-A	c.968C>T	p.S323L	Missense	4/11	-	2
9-4118512-C-A	c.966G>T	p.T322=	Synonymous	4/11	-	2
9-4118512-C-G	c.966G>C	p.T322=	Synonymous	4/11	-	2
9-4118512-C-T	c.966G>A	p.T322=	Synonymous	4/11	-	3
9-4118513-G-A	c.965C>T	p.T322M	Missense	4/11	-	1
9-4118513-G-T	c.965C>A	p.T322K	Missense	4/11	-	1
9-4118514-T-A	c.964A>T	p.T322S	Missense	4/11	-	1
9-4118516-C-T	c.962G>A	p.R321H	Missense	4/11	-	2
9-4118517-G-A	c.961C>T	p.R321C	Missense	4/11	-	1
9-4118518-G-C	c.960C>G	p.I320M	Missense	4/11	-	1
9-4118521-G-A	c.957C>T	p.I319=	Synonymous	4/11	-	1
9-4118523-T-C	c.955A>G	p.I319V	Missense	4/11	-	1
9-4118524-G-A	c.954C>T	p.T318=	Synonymous	4/11	-	3
9-4118526-T-A	c.952A>T	p.T318S	Missense	4/11	-	1
9-4118528-T-C	c.950A>G	p.N317S	Missense	4/11	-	1
9-4118529-T-C	c.949A>G	p.N317D	Missense	4/11	-	1
9-4118530-G-A	c.948C>T	p.F316=	Synonymous	4/11	-	1
9-4118538-T-A	c.940A>T	p.I314L	Missense	4/11	-	1
9-4118538-T-G	c.940A>C	p.I314L	Missense	4/11	-	1
9-4118540-C-G	c.938G>C	p.G313A	Missense	4/11	-	11
9-4118540-C-T	c.938G>A	p.G313E	Missense	4/11	-	1
9-4118541-C-G	c.937G>C	p.G313R	Missense	4/11	-	2
9-4118541-C-T	c.937G>A	p.G313R	Missense	4/11	-	3
9-4118545-GC-G	c.932del	p.G311Afs*4	Frameshift	4/11	-	4
9-4118550-C-T	c.928G>A	p.D310N	Missense	4/11	-	1
9-4118552-G-C	c.926C>G	p.S309C	Missense	4/11	-	2
9-4118556-G-A	c.922C>T	p.L308=	Synonymous	4/11	-	3
9-4118561-G-A	c.917C>T	p.S306F	Missense	4/11	-	1
9-4118563-C-A	c.915G>T	p.L305F	Missense	4/11	-	1
9-4118568-A-C	c.910T>G	p.S304A	Missense	4/11	-	1
9-4118568-A-G	c.910T>C	p.S304P	Missense	4/11	-	1
9-4118573-G-A	c.905C>T	p.A302V	Missense	4/11	-	3
9-4118574-C-T	c.904G>A	p.A302T	Missense	4/11	-	2
9-4118581-C-A	c.897G>T	p.K299N	Missense	4/11	-	1
9-4118581-C-G	c.897G>C	p.K299N	Missense	4/11	-	1
9-4118582-T-C	c.896A>G	p.K299R	Missense	4/11	-	1
9-4118583-T-TA	c.894_895insT	p.K299*	Nonsense	4/11	-	1
9-4118585-G-C	c.893C>G	p.S298C	Missense	4/11	-	1
9-4118585-G-T	c.893C>A	p.S298Y	Missense	4/11	-	9
9-4118586-A-G	c.892T>C	p.S298P	Missense	4/11	-	1
9-4118587-G-C	c.891C>G	p.R297=	Synonymous	4/11	-	1
9-4118589-G-A	c.889C>T	p.R297C	Missense	4/11	-	4
9-4118593-C-A	c.885G>T	p.S295=	Synonymous	4/11	-	1
9-4118593-C-T	c.885G>A	p.S295=	Synonymous	4/11	-	1
9-4118599-G-A	c.879C>T	p.S293=	Synonymous	4/11	-	1
9-4118599-G-C	c.879C>G	p.S293=	Synonymous	4/11	-	1
9-4118599-G-T	c.879C>A	p.S293=	Synonymous	4/11	-	1
9-4118600-G-A	c.878C>T	p.S293F	Missense	4/11	-	1
9-4118601-A-G	c.877T>C	p.S293P	Missense	4/11	-	1
9-4118605-G-T	c.873C>A	p.T291=	Synonymous	4/11	-	1
9-4118606-G-A	c.872C>T	p.T291I	Missense	4/11	-	1
9-4118606-G-T	c.872C>A	p.T291N	Missense	4/11	-	1
9-4118608-G-A	c.870C>T	p.S290=	Synonymous	4/11	-	1
9-4118608-G-C	c.870C>G	p.S290=	Synonymous	4/11	-	1
9-4118608-G-T	c.870C>A	p.S290=	Synonymous	4/11	-	1
9-4118607-TG-T	c.870del	p.T291Pfs*24	Frameshift	4/11	-	1
9-4118612-G-A	c.866C>T	p.S289L	Missense	4/11	-	2
9-4118612-G-C	c.866C>G	p.S289*	Nonsense	4/11	-	1
9-4118612-G-T	c.866C>A	p.S289*	Nonsense	4/11	-	1
9-4118614-G-T	c.864C>A	p.H288Q	Missense	4/11	-	1
9-4118618-C-G	c.860G>C	p.R287P	Missense	4/11	-	1
9-4118618-C-T	c.860G>A	p.R287Q	Missense	4/11	-	3
9-4118619-G-A	c.859C>T	p.R287W	Missense	4/11	-	3
9-4118622-G-A	c.856C>T	p.P286S	Missense	4/11	-	1
9-4118625-T-A	c.853A>T	p.S285C	Missense	4/11	-	2
9-4118627-G-C	c.851C>G	p.P284R	Missense	4/11	-	2
9-4118628-G-A	c.850C>T	p.P284S	Missense	4/11	-	1
9-4118630-T-C	c.848A>G	p.Y283C	Missense	4/11	-	1
9-4118632-A-C	c.846T>G	p.P282=	Synonymous	4/11	-	1
9-4118632-A-G	c.846T>C	p.P282=	Synonymous	4/11	-	1
9-4118632-A-T	c.846T>A	p.P282=	Synonymous	4/11	-	1
9-4118633-G-A	c.845C>T	p.P282L	Missense	4/11	-	4
9-4118634-G-C	c.844C>G	p.P282A	Missense	4/11	-	2
9-4118636-G-A	c.842C>T	p.S281F	Missense	4/11	-	1
9-4118636-G-C	c.842C>G	p.S281C	Missense	4/11	-	1
9-4118637-A-G	c.841T>C	p.S281P	Missense	4/11	-	1
9-4118640-G-A	c.838C>T	p.H280Y	Missense	4/11	-	1
9-4118645-C-G	c.833G>C	p.S278T	Missense	4/11	-	1
9-4118647-T-A	c.831A>T	p.E277D	Missense	4/11	-	2
9-4118647-T-G	c.831A>C	p.E277D	Missense	4/11	-	1
9-4118650-C-A	c.828G>T	p.T276=	Synonymous	4/11	-	1
9-4118650-C-G	c.828G>C	p.T276=	Synonymous	4/11	-	1
9-4118650-C-T	c.828G>A	p.T276=	Synonymous	4/11	-	2
9-4118651-G-A	c.827C>T	p.T276M	Missense	4/11	-	2
9-4118655-C-A	c.823G>T	p.G275C	Missense	4/11	-	1
9-4118663-T-C	c.815A>G	p.Y272C	Missense	4/11	-	1
9-4118663-T-G	c.815A>C	p.Y272S	Missense	4/11	-	1
9-4118664-A-T	c.814T>A	p.Y272N	Missense	4/11	-	1
9-4118666-G-C	c.812C>G	p.S271C	Missense	4/11	-	1
9-4118667-A-G	c.811T>C	p.S271P	Missense	4/11	-	1
9-4118667-A-T	c.811T>A	p.S271T	Missense	4/11	-	1
9-4118668-T-A	c.810A>T	p.P270=	Synonymous	4/11	-	1
9-4118668-T-C	c.810A>G	p.P270=	Synonymous	4/11	-	1
9-4118668-T-G	c.810A>C	p.P270=	Synonymous	4/11	-	1
9-4118670-G-A	c.808C>T	p.P270S	Missense	4/11	-	2
9-4118673-A-G	c.805T>C	p.L269=	Synonymous	4/11	-	8
9-4118675-G-A	c.803C>T	p.S268L	Missense	4/11	-	1
9-4118682-A-G	c.796T>C	p.S266P	Missense	4/11	-	2
9-4118682-A-T	c.796T>A	p.S266T	Missense	4/11	-	1
9-4118685-C-A	c.793G>T	p.V265F	Missense	4/11	-	1
9-4118685-C-G	c.793G>C	p.V265L	Missense	4/11	-	2
9-4118687-C-T	c.791G>A	p.S264N	Missense	4/11	-	1
9-4118693-C-G	c.785G>C	p.S262T	Missense	4/11	-	1
9-4118698-C-A	c.780G>T	p.M260I	Missense	4/11	-	1
9-4118698-C-G	c.780G>C	p.M260I	Missense	4/11	-	1
9-4118698-C-T	c.780G>A	p.M260I	Missense	4/11	-	1
9-4118702-G-A	c.776C>T	p.S259F	Missense	4/11	-	6
9-4118705-G-A	c.773C>T	p.T258I	Missense	4/11	-	1
9-4118711-G-A	c.767C>T	p.P256L	Missense	4/11	-	1
9-4118712-G-A	c.766C>T	p.P256S	Missense	4/11	-	3
9-4118714-G-A	c.764C>T	p.P255L	Missense	4/11	-	2
9-4118717-A-T	c.761T>A	p.L254H	Missense	4/11	-	1
9-4118718-G-A	c.760C>T	p.L254F	Missense	4/11	-	1
9-4118719-GCT-TCA	c.757_759delinsTGA	p.S253*	Nonsense	4/11	-	1
9-4118720-C-A	c.758G>T	p.S253I	Missense	4/11	-	1
9-4118720-CT-AG	c.757_758inv	p.S253L	Missense	4/11	-	1
9-4118733-C-G	c.745G>C	p.G249R	Missense	4/11	-	1
9-4118733-C-T	c.745G>A	p.G249R	Missense	4/11	-	1
9-4118734-T-C	c.744A>G	p.L248=	Synonymous	4/11	-	1
9-4118736-G-A	c.742C>T	p.L248=	Synonymous	4/11	-	1
9-4118739-C-A	c.739G>T	p.D247Y	Missense	4/11	-	2
9-4118739-C-T	c.739G>A	p.D247N	Missense	4/11	-	2
9-4118741-A-T	c.737T>A	p.L246H	Missense	4/11	-	1
9-4118742-G-A	c.736C>T	p.L246F	Missense	4/11	-	1
9-4118743-G-C	c.735C>G	p.G245=	Synonymous	4/11	-	1
9-4118749-C-A	c.729G>T	p.Q243H	Missense	4/11	-	1
9-4118749-C-G	c.729G>C	p.Q243H	Missense	4/11	-	1
9-4118751-G-C	c.727C>G	p.Q243E	Missense	4/11	-	1
9-4118753-G-A	c.725C>T	p.S242F	Missense	4/11	-	2
9-4118759-T-C	c.719A>G	p.H240R	Missense	4/11	-	1
9-4118761-G-A	c.717C>T	p.N239=	Synonymous	4/11	-	2
9-4118765-G-A	c.713C>T	p.S238F	Missense	4/11	-	1
9-4118771-G-A	c.707C>T	p.S236L	Missense	4/11	-	2
9-4118772-A-C	c.706T>G	p.S236A	Missense	4/11	-	1
9-4118774-G-C	c.704C>G	p.P235R	Missense	4/11	-	1
9-4118776-G-C	c.702C>G	p.L234=	Synonymous	4/11	-	1
9-4118778-G-A	c.700C>T	p.L234F	Missense	4/11	-	1
9-4118779-G-A	c.699C>T	p.A233=	Synonymous	4/11	-	1
9-4118779-G-C	c.699C>G	p.A233=	Synonymous	4/11	-	1
9-4118779-G-T	c.699C>A	p.A233=	Synonymous	4/11	-	1
9-4118780-G-A	c.698C>T	p.A233V	Missense	4/11	-	1
9-4118780-G-C	c.698C>G	p.A233G	Missense	4/11	-	1
9-4118781-C-A	c.697G>T	p.A233S	Missense	4/11	-	2
9-4118781-C-T	c.697G>A	p.A233T	Missense	4/11	-	2
9-4118789-C-A	c.689G>T	p.G230V	Missense	4/11	-	1
9-4118789-C-CCTTGGCTCCACTCTTGCT	c.688_689insAGCAAGAGTGGAGCCAAG	p.Q229_G230insEQEWSQ	InFrameInsertion	4/11	-	1
9-4118792-T-G	c.686A>C	p.Q229P	Missense	4/11	-	1
9-4118795-GA-TT	c.682_683delinsAA	p.S228N	Missense	4/11	-	1
9-4118799-A-G	c.679T>C	p.W227R	Missense	4/11	-	2
9-4118803-C-G	c.675G>C	p.Q225H	Missense	4/11	-	1
9-4118803-C-T	c.675G>A	p.Q225=	Synonymous	4/11	-	2
9-4118807-T-C	c.671A>G	p.K224R	Missense	4/11	-	1
9-4118809-C-T	c.669G>A	p.M223I	Missense	4/11	-	1
9-4118816-G-T	c.662C>A	p.S221*	Nonsense	4/11	-	1
9-4118817-A-T	c.661T>A	p.S221T	Missense	4/11	-	1
9-4118819-G-A	c.659C>T	p.A220V	Missense	4/11	-	5
9-4118820-C-T	c.658G>A	p.A220T	Missense	4/11	-	4
9-4118822-G-A	c.656C>T	p.S219L	Missense	4/11	-	2
9-4118825-T-A	c.653A>T	p.Q218L	Missense	4/11	-	1
9-4118826-G-C	c.652C>G	p.Q218E	Missense	4/11	-	1
9-4118832-C-T	c.646G>A	p.E216K	Missense	4/11	-	3
9-4118834-G-A	c.644C>T	p.T215M	Missense	4/11	-	2
9-4118835-T-C	c.643A>G	p.T215A	Missense	4/11	-	1
9-4118839-A-G	c.639T>C	p.S213=	Synonymous	4/11	-	1
9-4118840-C-A	c.638G>T	p.S213I	Missense	4/11	-	1
9-4118842-C-A	c.636G>T	p.L212F	Missense	4/11	-	1
9-4118843-A-C	c.635T>G	p.L212W	Missense	4/11	-	1
9-4118846-G-A	c.632C>T	p.T211I	Missense	4/11	-	1
9-4118848-C-T	c.630G>A	p.T210=	Synonymous	4/11	-	2
9-4118849-G-C	c.629C>G	p.T210R	Missense	4/11	-	1
9-4118852-G-A	c.626C>T	p.S209F	Missense	4/11	-	1
9-4118854-CG-GT	c.623_624delinsAC	p.A208D	Missense	4/11	-	1
9-4118855-G-C	c.623C>G	p.A208G	Missense	4/11	-	2
9-4118855-G-T	c.623C>A	p.A208E	Missense	4/11	-	2
9-4118855-GC-G	c.622del	p.A208Rfs*5	Frameshift	4/11	-	1
9-4118857-C-T	c.621G>A	p.L207=	Synonymous	4/11	-	3
9-4118865-C-T	c.613G>A	p.E205K	Missense	4/11	-	1
9-4118866-AC-TT	c.611_612delinsAA	p.R204Q	Missense	4/11	-	1
9-4118868-G-A	c.610C>T	p.R204C	Missense	4/11	-	2
9-4118870-G-A	c.608C>T	p.S203L	Missense	4/11	-	2
9-4118878-G-A	c.600C>T	p.S200=	Synonymous	4/11	-	4
9-4118878-G-C	c.600C>G	p.S200=	Synonymous	4/11	-	1
9-4118878-G-T	c.600C>A	p.S200=	Synonymous	4/11	-	1
9-4118879-G-C	c.599C>G	p.S200C	Missense	4/11	-	1
9-4119049-C-T	c.597-168G>A	-	IntronicSNV	-	3/10	2
9-4120648-G-A	c.597-1767C>T	-	IntronicSNV	-	3/10	1
9-4120648-G-C	c.597-1767C>G	-	IntronicSNV	-	3/10	1
9-4124377-C-T	c.596+1357G>A	-	IntronicSNV	-	3/10	1
9-4125624-A-G	c.596+110T>C	-	IntronicSNV	-	3/10	1
9-4125625-A-T	c.596+109T>A	-	IntronicSNV	-	3/10	1
9-4125630-A-G	c.596+104T>C	-	IntronicSNV	-	3/10	1
9-4125632-G-A	c.596+102C>T	-	IntronicSNV	-	3/10	1
9-4125633-AGTGT-A	c.596+97_596+100del	-	IntronicDeletion	-	3/10	1
9-4125712-GA-G	c.596+21del	-	IntronicDeletion	-	3/10	1
9-4125740-T-A	c.590A>T	p.D197V	Missense	3/11	-	1
9-4125741-C-A	c.589G>T	p.D197Y	Missense	3/11	-	2
9-4125748-A-C	c.582T>G	p.P194=	Synonymous	3/11	-	1
9-4125748-A-G	c.582T>C	p.P194=	Synonymous	3/11	-	1
9-4125748-A-T	c.582T>A	p.P194=	Synonymous	3/11	-	1
9-4125753-T-C	c.577A>G	p.I193V	Missense	3/11	-	2
9-4125756-T-TTTA	c.573_574insTAA	p.L191_N192ins*	InFrameInsertion	3/11	-	1
9-4125761-T-C	c.569A>G	p.N190S	Missense	3/11	-	1
9-4125766-T-A	c.564A>T	p.A188=	Synonymous	3/11	-	1
9-4125766-T-C	c.564A>G	p.A188=	Synonymous	3/11	-	1
9-4125766-T-G	c.564A>C	p.A188=	Synonymous	3/11	-	1
9-4125771-T-C	c.559A>G	p.N187D	Missense	3/11	-	1
9-4125774-T-A	c.556A>T	p.M186L	Missense	3/11	-	1
9-4125774-T-C	c.556A>G	p.M186V	Missense	3/11	-	3
9-4125782-T-C	c.548A>G	p.Q183R	Missense	3/11	-	1
9-4125782-T-G	c.548A>C	p.Q183P	Missense	3/11	-	1
9-4125783-G-A	c.547C>T	p.Q183*	Nonsense	3/11	-	1
9-4125786-A-C	c.544T>G	p.L182V	Missense	3/11	-	1
9-4125787-G-A	c.543C>T	p.S181=	Synonymous	3/11	-	1
9-4125788-CT-AG	c.541_542inv	p.S181L	Missense	3/11	-	1
9-4125796-G-C	c.534C>G	p.I178M	Missense	3/11	-	1
9-4125802-G-C	c.528C>G	p.N176K	Missense	3/11	-	2
9-4125806-C-T	c.524G>A	p.C175Y	Missense	3/11	-	1
9-4125807-A-G	c.523T>C	p.C175R	Missense	3/11	-	1
9-4125810-C-T	c.520G>A	p.A174T	Missense	3/11	-	1
9-4125813-T-A	c.517A>T	p.T173S	Missense	3/11	-	1
9-4125813-T-C	c.517A>G	p.T173A	Missense	3/11	-	1
9-4125816-A-T	c.514T>A	p.S172T	Missense	3/11	-	1
9-4125825-T-C	c.505A>G	p.S169G	Missense	3/11	-	1
9-4125827-G-A	c.503C>T	p.A168V	Missense	3/11	-	2
9-4125828-C-A	c.502G>T	p.A168S	Missense	3/11	-	1
9-4125830-G-A	c.500C>T	p.P167L	Missense	3/11	-	1
9-4125830-G-C	c.500C>G	p.P167R	Missense	3/11	-	1
9-4125834-G-A	c.496C>T	p.P166S	Missense	3/11	-	1
9-4125834-G-C	c.496C>G	p.P166A	Missense	3/11	-	1
9-4125834-G-T	c.496C>A	p.P166T	Missense	3/11	-	1
9-4125836-G-A	c.494C>T	p.S165L	Missense	3/11	-	1
9-4125838-A-G	c.492T>C	p.I164=	Synonymous	3/11	-	1
9-4125838-A-T	c.492T>A	p.I164=	Synonymous	3/11	-	1
9-4125839-A-T	c.491T>A	p.I164N	Missense	3/11	-	1
9-4125840-T-C	c.490A>G	p.I164V	Missense	3/11	-	1
9-4125841-G-A	c.489C>T	p.L163=	Synonymous	3/11	-	1
9-4125842-A-G	c.488T>C	p.L163P	Missense	3/11	-	2
9-4125844-TCC-CCA	c.484_486delinsTGG	p.G162W	Missense	3/11	-	1
9-4125846-C-G	c.484G>C	p.G162R	Missense	3/11	-	2
9-4125846-C-T	c.484G>A	p.G162R	Missense	3/11	-	1
9-4125847-C-A	c.483G>T	p.L161=	Synonymous	3/11	-	1
9-4125847-C-G	c.483G>C	p.L161=	Synonymous	3/11	-	1
9-4125847-C-T	c.483G>A	p.L161=	Synonymous	3/11	-	1
9-4125849-G-A	c.481C>T	p.L161=	Synonymous	3/11	-	1
9-4125851-C-T	c.479G>A	p.R160Q	Missense	3/11	-	2
9-4125852-G-A	c.478C>T	p.R160*	Nonsense	3/11	-	3
9-4125858-C-T	c.472G>A	p.V158I	Missense	3/11	-	1
9-4125859-C-A	c.471G>T	p.M157I	Missense	3/11	-	4
9-4125859-C-G	c.471G>C	p.M157I	Missense	3/11	-	4
9-4125859-C-T	c.471G>A	p.M157I	Missense	3/11	-	5
9-4125862-C-A	c.468G>T	p.M156I	Missense	3/11	-	1
9-4125862-C-G	c.468G>C	p.M156I	Missense	3/11	-	1
9-4125862-C-T	c.468G>A	p.M156I	Missense	3/11	-	1
9-4125865-G-A	c.465C>T	p.P155=	Synonymous	3/11	-	1
9-4125866-G-T	c.464C>A	p.P155H	Missense	3/11	-	1
9-4125867-G-A	c.463C>T	p.P155S	Missense	3/11	-	1
9-4125867-G-C	c.463C>G	p.P155A	Missense	3/11	-	1
9-4125869-CT-AA	c.460_461delinsTT	p.S154F	Missense	3/11	-	1
9-4125872-CT-AA	c.457_458delinsTT	p.S153F	Missense	3/11	-	1
9-4125875-G-A	c.455C>T	p.T152I	Missense	3/11	-	2
9-4125877-GAC-CAT	c.451_453delinsATG	p.V151M	Missense	3/11	-	2
9-4125877-G-T	c.453C>A	p.V151=	Synonymous	3/11	-	1
9-4125878-A-G	c.452T>C	p.V151A	Missense	3/11	-	1
9-4125880-C-A	c.450G>T	p.V150=	Synonymous	3/11	-	1
9-4125881-A-G	c.449T>C	p.V150A	Missense	3/11	-	2
9-4125883-TAG-AAA	c.445_447delinsTTT	p.L149F	Missense	3/11	-	2
9-4125889-G-C	c.441C>G	p.N147K	Missense	3/11	-	1
9-4125889-G-T	c.441C>A	p.N147K	Missense	3/11	-	1
9-4125890-T-C	c.440A>G	p.N147S	Missense	3/11	-	1
9-4125893-C-G	c.437G>C	p.C146S	Missense	3/11	-	1
9-4125898-G-A	c.432C>T	p.G144=	Synonymous	3/11	-	1
9-4125898-G-C	c.432C>G	p.G144=	Synonymous	3/11	-	1
9-4125898-G-T	c.432C>A	p.G144=	Synonymous	3/11	-	1
9-4125902-T-C	c.428A>G	p.K143R	Missense	3/11	-	1
9-4125904-TCC-GCT	c.424_426delinsAGC	p.G142S	Missense	3/11	-	1
9-4125905-C-T	c.425G>A	p.G142E	Missense	3/11	-	1
9-4125908-A-G	c.422T>C	p.I141T	Missense	3/11	-	3
9-4125914-T-A	c.416A>T	p.K139M	Missense	3/11	-	1
9-4125916-G-A	c.414C>T	p.C138=	Synonymous	3/11	-	1
9-4125919-C-T	c.411G>A	p.Q137=	Synonymous	3/11	-	1
9-4125921-G-T	c.409C>A	p.Q137K	Missense	3/11	-	1
9-4125927-C-A	c.403G>T	p.G135W	Missense	3/11	-	1
9-4125927-C-G	c.403G>C	p.G135R	Missense	3/11	-	1
9-4125928-A-G	c.402T>C	p.F134=	Synonymous	3/11	-	1
9-4125936-G-A	c.394C>T	p.L132F	Missense	3/11	-	2
9-4125939-C-T	c.391G>A	p.A131T	Missense	3/11	-	1
9-4125941-C-A	c.389G>T	p.G130V	Missense	3/11	-	2
9-4126053-A-T	c.389-112T>A	-	IntronicSNV	-	2/10	2
9-4129657-G-C	c.389-3716C>G	-	IntronicSNV	-	2/10	1
9-4131657-A-G	c.389-5716T>C	-	IntronicSNV	-	2/10	2
9-4140955-C-A	c.389-15014G>T	-	IntronicSNV	-	2/10	1
9-4140955-C-T	c.389-15014G>A	-	IntronicSNV	-	2/10	1
9-4143530-G-A	c.389-17589C>T	-	IntronicSNV	-	2/10	2
9-4143530-G-C	c.389-17589C>G	-	IntronicSNV	-	2/10	2
9-4143635-A-G	c.389-17694T>C	-	IntronicSNV	-	2/10	1
9-4143749-A-T	c.389-17808T>A	-	IntronicSNV	-	2/10	2
9-4145163-G-A	c.389-19222C>T	-	IntronicSNV	-	2/10	1
9-4145163-G-C	c.389-19222C>G	-	IntronicSNV	-	2/10	1
9-4145560-T-A	c.389-19619A>T	-	IntronicSNV	-	2/10	1
9-4145648-A-C	c.389-19707T>G	-	IntronicSNV	-	2/10	1
9-4145648-A-T	c.389-19707T>A	-	IntronicSNV	-	2/10	1
9-4147254-A-C	c.389-21313T>G	-	IntronicSNV	-	2/10	1
9-4148717-G-C	c.389-22776C>G	-	IntronicSNV	-	2/10	1
9-4151884-G-A	c.389-25943C>T	-	IntronicSNV	-	2/10	1
9-4151884-G-C	c.389-25943C>G	-	IntronicSNV	-	2/10	1
9-4153419-C-A	c.389-27478G>T	-	IntronicSNV	-	2/10	1
9-4153419-C-T	c.389-27478G>A	-	IntronicSNV	-	2/10	1
9-4164690-A-C	c.389-38749T>G	-	IntronicSNV	-	2/10	1
9-4168161-C-T	c.389-42220G>A	-	IntronicSNV	-	2/10	1
9-4170457-A-G	c.389-44516T>C	-	IntronicSNV	-	2/10	1
9-4170967-T-G	c.389-45026A>C	-	IntronicSNV	-	2/10	1
9-4171212-T-C	c.389-45271A>G	-	IntronicSNV	-	2/10	1
9-4171920-C-A	c.389-45979G>T	-	IntronicSNV	-	2/10	1
9-4171920-C-T	c.389-45979G>A	-	IntronicSNV	-	2/10	1
9-4172815-T-C	c.389-46874A>G	-	IntronicSNV	-	2/10	1
9-4175223-A-C	c.389-49282T>G	-	IntronicSNV	-	2/10	1
9-4175324-T-C	c.389-49383A>G	-	IntronicSNV	-	2/10	1
9-4178004-C-G	c.389-52063G>C	-	IntronicSNV	-	2/10	1
9-4180887-T-C	c.389-54946A>G	-	IntronicSNV	-	2/10	1
9-4183510-A-T	c.389-57569T>A	-	IntronicSNV	-	2/10	1
9-4190248-A-C	c.389-64307T>G	-	IntronicSNV	-	2/10	1
9-4190501-G-A	c.389-64560C>T	-	IntronicSNV	-	2/10	1
9-4190544-G-A	c.389-64603C>T	-	IntronicSNV	-	2/10	1
9-4190546-C-A	c.389-64605G>T	-	IntronicSNV	-	2/10	1
9-4190546-C-G	c.389-64605G>C	-	IntronicSNV	-	2/10	1
9-4190845-G-C	c.389-64904C>G	-	IntronicSNV	-	2/10	1
9-4195278-G-T	c.389-69337C>A	-	IntronicSNV	-	2/10	2
9-4195280-T-C	c.389-69339A>G	-	IntronicSNV	-	2/10	1
9-4195597-G-A	c.389-69656C>T	-	IntronicSNV	-	2/10	1
9-4195597-G-C	c.389-69656C>G	-	IntronicSNV	-	2/10	1
9-4203214-A-G	c.389-77273T>C	-	IntronicSNV	-	2/10	1
9-4206388-A-C	c.388+79650T>G	-	IntronicSNV	-	2/10	1
9-4206388-A-G	c.388+79650T>C	-	IntronicSNV	-	2/10	1
9-4206813-C-A	c.388+79225G>T	-	IntronicSNV	-	2/10	1
9-4206813-C-T	c.388+79225G>A	-	IntronicSNV	-	2/10	1
9-4207004-G-A	c.388+79034C>T	-	IntronicSNV	-	2/10	1
9-4207004-G-T	c.388+79034C>A	-	IntronicSNV	-	2/10	1
9-4207974-G-C	c.388+78064C>G	-	IntronicSNV	-	2/10	1
9-4210748-C-T	c.388+75290G>A	-	IntronicSNV	-	2/10	1
9-4212347-A-G	c.388+73691T>C	-	IntronicSNV	-	2/10	2
9-4213321-G-A	c.388+72717C>T	-	IntronicSNV	-	2/10	1
9-4215308-G-A	c.388+70730C>T	-	IntronicSNV	-	2/10	1
9-4216751-T-C	c.388+69287A>G	-	IntronicSNV	-	2/10	1
9-4217028-G-A	c.388+69010C>T	-	IntronicSNV	-	2/10	9
9-4217028-G-C	c.388+69010C>G	-	IntronicSNV	-	2/10	9
9-4220832-C-G	c.388+65206G>C	-	IntronicSNV	-	2/10	1
9-4221241-G-A	c.388+64797C>T	-	IntronicSNV	-	2/10	1
9-4221555-G-A	c.388+64483C>T	-	IntronicSNV	-	2/10	1
9-4221555-G-C	c.388+64483C>G	-	IntronicSNV	-	2/10	1
9-4223660-T-C	c.388+62378A>G	-	IntronicSNV	-	2/10	4
9-4223660-T-G	c.388+62378A>C	-	IntronicSNV	-	2/10	4
9-4224002-GAA-G	c.388+62034_388+62035del	-	IntronicDeletion	-	2/10	1
9-4225787-CAG-C	c.388+60249_388+60250del	-	IntronicDeletion	-	2/10	1
9-4230047-T-C	c.388+55991A>G	-	IntronicSNV	-	2/10	1
9-4232743-T-C	c.388+53295A>G	-	IntronicSNV	-	2/10	1
9-4237546-A-G	c.388+48492T>C	-	IntronicSNV	-	2/10	3
9-4242479-C-A	c.388+43559G>T	-	IntronicSNV	-	2/10	2
9-4242479-C-T	c.388+43559G>A	-	IntronicSNV	-	2/10	2
9-4242523-A-G	c.388+43515T>C	-	IntronicSNV	-	2/10	1
9-4247074-C-A	c.388+38964G>T	-	IntronicSNV	-	2/10	1
9-4253323-C-G	c.388+32715G>C	-	IntronicSNV	-	2/10	1
9-4253323-C-T	c.388+32715G>A	-	IntronicSNV	-	2/10	1
9-4256046-T-TA	c.388+29991dup	-	IntronicInsertion	-	2/10	1
9-4256908-A-C	c.388+29130T>G	-	IntronicSNV	-	2/10	1
9-4256908-A-G	c.388+29130T>C	-	IntronicSNV	-	2/10	1
9-4256912-A-G	c.388+29126T>C	-	IntronicSNV	-	2/10	1
9-4256912-A-T	c.388+29126T>A	-	IntronicSNV	-	2/10	1
9-4256919-T-A	c.388+29119A>T	-	IntronicSNV	-	2/10	1
9-4257004-A-T	c.388+29034T>A	-	IntronicSNV	-	2/10	1
9-4261496-A-G	c.388+24542T>C	-	IntronicSNV	-	2/10	1
9-4262516-G-A	c.388+23522C>T	-	IntronicSNV	-	2/10	1
9-4263509-A-AG	c.388+22528dup	-	IntronicInsertion	-	2/10	2
9-4265208-C-T	c.388+20830G>A	-	IntronicSNV	-	2/10	1
9-4265865-G-A	c.388+20173C>T	-	IntronicSNV	-	2/10	1
9-4267209-A-G	c.388+18829T>C	-	IntronicSNV	-	2/10	10
9-4267787-G-T	c.388+18251C>A	-	IntronicSNV	-	2/10	1
9-4269287-C-T	c.388+16751G>A	-	IntronicSNV	-	2/10	1
9-4275018-A-C	c.388+11020T>G	-	IntronicSNV	-	2/10	1
9-4275419-T-C	c.388+10619A>G	-	IntronicSNV	-	2/10	1
9-4276975-G-A	c.388+9063C>T	-	IntronicSNV	-	2/10	1
9-4277029-GA-G	c.388+9008del	-	IntronicDeletion	-	2/10	1
9-4277500-A-G	c.388+8538T>C	-	IntronicSNV	-	2/10	1
9-4279106-C-G	c.388+6932G>C	-	IntronicSNV	-	2/10	1
9-4279106-C-T	c.388+6932G>A	-	IntronicSNV	-	2/10	1
9-4279314-A-T	c.388+6724T>A	-	IntronicSNV	-	2/10	1
9-4282536-A-G	c.388+3502T>C	-	IntronicSNV	-	2/10	2
9-4282942-T-G	c.388+3096A>C	-	IntronicSNV	-	2/10	3
9-4283137-G-T	c.388+2901C>A	-	IntronicSNV	-	2/10	5
9-4283682-T-C	c.388+2356A>G	-	IntronicSNV	-	2/10	2
9-4285119-C-G	c.388+919G>C	-	IntronicSNV	-	2/10	2
9-4285119-C-T	c.388+919G>A	-	IntronicSNV	-	2/10	2
9-4285697-G-A	c.388+341C>T	-	IntronicSNV	-	2/10	1
9-4285701-C-A	c.388+337G>T	-	IntronicSNV	-	2/10	1
9-4285707-C-A	c.388+331G>T	-	IntronicSNV	-	2/10	3
9-4285986-G-A	c.388+52C>T	-	IntronicSNV	-	2/10	9
9-4285986-G-C	c.388+52C>G	-	IntronicSNV	-	2/10	11
9-4285986-G-T	c.388+52C>A	-	IntronicSNV	-	2/10	9
9-4285999-C-T	c.388+39G>A	-	IntronicSNV	-	2/10	1
9-4286015-A-G	c.388+23T>C	-	IntronicSNV	-	2/10	1
9-4286043-C-G	c.383G>C	p.G128A	Missense	2/11	-	1
9-4286046-G-C	c.380C>G	p.P127R	Missense	2/11	-	1
9-4286050-T-C	c.376A>G	p.N126D	Missense	2/11	-	1
9-4286052-G-A	c.374C>T	p.P125L	Missense	2/11	-	1
9-4286052-G-T	c.374C>A	p.P125Q	Missense	2/11	-	1
9-4286053-G-A	c.373C>T	p.P125S	Missense	2/11	-	1
9-4286055-G-A	c.371C>T	p.P124L	Missense	2/11	-	1
9-4286056-G-A	c.370C>T	p.P124S	Missense	2/11	-	1
9-4286059-A-C	c.367T>G	p.F123V	Missense	2/11	-	1
9-4286061-G-A	c.365C>T	p.P122L	Missense	2/11	-	1
9-4286064-C-T	c.362G>A	p.S121N	Missense	2/11	-	2
9-4286066-TC-GT	c.359_360delinsAC	p.G120D	Missense	2/11	-	1
9-4286070-A-G	c.356T>C	p.F119S	Missense	2/11	-	1
9-4286068-C-CA	c.357dup	p.G120Wfs*62	Frameshift	2/11	-	1
9-4286072-C-A	c.354G>T	p.E118D	Missense	2/11	-	1
9-4286074-C-T	c.352G>A	p.E118K	Missense	2/11	-	1
9-4286084-T-A	c.342A>T	p.P114=	Synonymous	2/11	-	1
9-4286084-T-C	c.342A>G	p.P114=	Synonymous	2/11	-	1
9-4286084-T-G	c.342A>C	p.P114=	Synonymous	2/11	-	1
9-4286086-G-A	c.340C>T	p.P114S	Missense	2/11	-	2
9-4286089-T-C	c.337A>G	p.K113E	Missense	2/11	-	1
9-4286091-A-G	c.335T>C	p.L112S	Missense	2/11	-	1
9-4286094-G-T	c.332C>A	p.T111N	Missense	2/11	-	1
9-4286098-G-T	c.328C>A	p.H110N	Missense	2/11	-	1
9-4286101-A-G	c.325T>C	p.S109P	Missense	2/11	-	1
9-4286103-C-A	c.323G>T	p.G108V	Missense	2/11	-	1
9-4286103-C-T	c.323G>A	p.G108E	Missense	2/11	-	2
9-4286104-C-A	c.322G>T	p.G108W	Missense	2/11	-	1
9-4286106-G-A	c.320C>T	p.S107L	Missense	2/11	-	1
9-4286108-C-G	c.318G>C	p.M106I	Missense	2/11	-	1
9-4286110-T-C	c.316A>G	p.M106V	Missense	2/11	-	1
9-4286112-C-CA	c.313_314insT	p.G105Vfs*77	Frameshift	2/11	-	1
9-4286113-C-G	c.313G>C	p.G105R	Missense	2/11	-	1
9-4286114-TCC-GCT	c.310_312delinsAGC	p.G104S	Missense	2/11	-	1
9-4286115-C-G	c.311G>C	p.G104A	Missense	2/11	-	1
9-4286116-C-G	c.310G>C	p.G104R	Missense	2/11	-	3
9-4286116-C-T	c.310G>A	p.G104R	Missense	2/11	-	7
9-4286118-G-A	c.308C>T	p.A103V	Missense	2/11	-	1
9-4286119-C-T	c.307G>A	p.A103T	Missense	2/11	-	1
9-4286121-T-G	c.305A>C	p.Q102P	Missense	2/11	-	1
9-4286122-G-A	c.304C>T	p.Q102*	Nonsense	2/11	-	4
9-4286122-G-C	c.304C>G	p.Q102E	Missense	2/11	-	2
9-4286131-G-T	c.295C>A	p.Q99K	Missense	2/11	-	1
9-4286132-G-A	c.294C>T	p.F98=	Synonymous	2/11	-	1
9-4286132-G-C	c.294C>G	p.F98L	Missense	2/11	-	1
9-4286132-G-T	c.294C>A	p.F98L	Missense	2/11	-	1
9-4286134-A-G	c.292T>C	p.F98L	Missense	2/11	-	1
9-4286136-C-T	c.290G>A	p.R97Q	Missense	2/11	-	5
9-4286138-C-T	c.288G>A	p.P96=	Synonymous	2/11	-	2
9-4286139-G-A	c.287C>T	p.P96L	Missense	2/11	-	2
9-4286140-G-C	c.286C>G	p.P96A	Missense	2/11	-	2
9-4286141-C-T	c.285G>A	p.K95=	Synonymous	2/11	-	1
9-4286142-T-C	c.284A>G	p.K95R	Missense	2/11	-	1
9-4286143-T-C	c.283A>G	p.K95E	Missense	2/11	-	1
9-4286147-A-G	c.279T>C	p.N93=	Synonymous	2/11	-	2
9-4286148-T-C	c.278A>G	p.N93S	Missense	2/11	-	1
9-4286149-T-C	c.277A>G	p.N93D	Missense	2/11	-	2
9-4286153-G-A	c.273C>T	p.L91=	Synonymous	2/11	-	1
9-4286155-G-A	c.271C>T	p.L91F	Missense	2/11	-	3
9-4286159-T-G	c.267A>C	p.Q89H	Missense	2/11	-	1
9-4286166-C-A	c.260G>T	p.R87M	Missense	2/11	-	1
9-4286168-G-A	c.258C>T	p.P86=	Synonymous	2/11	-	1
9-4286168-G-C	c.258C>G	p.P86=	Synonymous	2/11	-	1
9-4286168-G-T	c.258C>A	p.P86=	Synonymous	2/11	-	1
9-4286169-G-C	c.257C>G	p.P86R	Missense	2/11	-	1
9-4286169-G-T	c.257C>A	p.P86H	Missense	2/11	-	3
9-4286174-T-A	c.252A>T	p.L84F	Missense	2/11	-	1
9-4286178-G-T	c.248C>A	p.A83D	Missense	2/11	-	1
9-4286183-C-A	c.243G>T	p.L81=	Synonymous	2/11	-	3
9-4286183-C-G	c.243G>C	p.L81=	Synonymous	2/11	-	1
9-4286183-C-T	c.243G>A	p.L81=	Synonymous	2/11	-	1
9-4286185-G-A	c.241C>T	p.L81=	Synonymous	2/11	-	1
9-4286185-G-T	c.241C>A	p.L81M	Missense	2/11	-	1
9-4286187-T-C	c.239A>G	p.H80R	Missense	2/11	-	2
9-4286188-G-A	c.238C>T	p.H80Y	Missense	2/11	-	3
9-4286190-A-G	c.236T>C	p.I79T	Missense	2/11	-	1
9-4286191-T-C	c.235A>G	p.I79V	Missense	2/11	-	1
9-4286194-G-T	c.232C>A	p.R78S	Missense	2/11	-	2
9-4286195-G-T	c.231C>A	p.S77R	Missense	2/11	-	1
9-4286196-CT-AA	c.229_230delinsTT	p.S77F	Missense	2/11	-	1
9-4286197-T-A	c.229A>T	p.S77C	Missense	2/11	-	1
9-4286200-C-T	c.226G>A	p.E76K	Missense	2/11	-	1
9-4286206-C-T	c.220G>A	p.V74M	Missense	2/11	-	2
9-4286207-G-A	c.219C>T	p.N73=	Synonymous	2/11	-	3
9-4286209-T-G	c.217A>C	p.N73H	Missense	2/11	-	1
9-4286213-C-A	c.213G>T	p.Q71H	Missense	2/11	-	3
9-4286213-C-G	c.213G>C	p.Q71H	Missense	2/11	-	3
9-4286213-C-T	c.213G>A	p.Q71=	Synonymous	2/11	-	1
9-4286214-T-C	c.212A>G	p.Q71R	Missense	2/11	-	2
9-4286215-G-C	c.211C>G	p.Q71E	Missense	2/11	-	1
9-4286217-G-A	c.209C>T	p.P70L	Missense	2/11	-	1
9-4286221-C-T	c.205G>A	p.A69T	Missense	2/11	-	1
9-4286224-T-C	c.202A>G	p.M68V	Missense	2/11	-	1
9-4286225-C-A	c.201G>T	p.G67=	Synonymous	2/11	-	1
9-4286226-C-A	c.200G>T	p.G67V	Missense	2/11	-	1
9-4286226-C-T	c.200G>A	p.G67E	Missense	2/11	-	2
9-4286229-C-T	c.197G>A	p.G66E	Missense	2/11	-	1
9-4286233-C-G	c.193G>C	p.G65R	Missense	2/11	-	1
9-4286233-C-T	c.193G>A	p.G65R	Missense	2/11	-	2
9-4286234-TGA-GTT	c.190_192delinsAAC	p.S64N	Missense	2/11	-	1
9-4286235-G-A	c.191C>T	p.S64L	Missense	2/11	-	1
9-4286238-G-A	c.188C>T	p.P63L	Missense	2/11	-	2
9-4286239-G-A	c.187C>T	p.P63S	Missense	2/11	-	2
9-4286239-G-C	c.187C>G	p.P63A	Missense	2/11	-	1
9-4286240-C-A	c.186G>T	p.M62I	Missense	2/11	-	1
9-4286240-C-G	c.186G>C	p.M62I	Missense	2/11	-	1
9-4286240-C-T	c.186G>A	p.M62I	Missense	2/11	-	1
9-4286243-C-A	c.183G>T	p.K61N	Missense	2/11	-	1
9-4286243-C-T	c.183G>A	p.K61=	Synonymous	2/11	-	1
9-4286246-G-A	c.180C>T	p.L60=	Synonymous	2/11	-	1
9-4286246-G-C	c.180C>G	p.L60=	Synonymous	2/11	-	1
9-4286246-G-T	c.180C>A	p.L60=	Synonymous	2/11	-	1
9-4286252-G-A	c.174C>T	p.L58=	Synonymous	2/11	-	1
9-4286254-G-C	c.172C>G	p.L58V	Missense	2/11	-	2
9-4286255-G-A	c.171C>T	p.N57=	Synonymous	2/11	-	3
9-4286262-G-C	c.164C>G	p.A55G	Missense	2/11	-	2
9-4286262-G-T	c.164C>A	p.A55D	Missense	2/11	-	1
9-4286267-G-A	c.159C>T	p.S53=	Synonymous	2/11	-	1
9-4286275-T-C	c.151A>G	p.M51V	Missense	2/11	-	2
9-4286277-G-C	c.149C>G	p.T50S	Missense	2/11	-	1
9-4286278-T-A	c.148A>T	p.T50S	Missense	2/11	-	1
9-4286280-G-T	c.146C>A	p.P49H	Missense	2/11	-	1
9-4286281-G-A	c.145C>T	p.P49S	Missense	2/11	-	1
9-4286283-C-G	c.143G>C	p.S48T	Missense	2/11	-	1
9-4286283-CT-AG	c.142_143inv	p.S48L	Missense	2/11	-	2
9-4286285-C-T	c.141G>A	p.S47=	Synonymous	2/11	-	1
9-4286286-G-A	c.140C>T	p.S47L	Missense	2/11	-	8
9-4286289-G-A	c.137C>T	p.T46I	Missense	2/11	-	1
9-4286291-G-A	c.135C>T	p.S45=	Synonymous	2/11	-	1
9-4286292-CT-AA	c.133_134delinsTT	p.S45F	Missense	2/11	-	2
9-4286299-A-C	c.127T>G	p.C43G	Missense	2/11	-	1
9-4286304-G-A	c.122C>T	p.S41L	Missense	2/11	-	4
9-4286307-G-C	c.119C>G	p.P40R	Missense	2/11	-	1
9-4286313-G-C	c.113C>G	p.P38R	Missense	2/11	-	1
9-4286316-G-A	c.110C>T	p.T37I	Missense	2/11	-	2
9-4286318-C-A	c.108G>T	p.G36=	Synonymous	2/11	-	1
9-4286318-C-G	c.108G>C	p.G36=	Synonymous	2/11	-	1
9-4286318-C-T	c.108G>A	p.G36=	Synonymous	2/11	-	1
9-4286319-C-G	c.107G>C	p.G36A	Missense	2/11	-	1
9-4286320-C-G	c.106G>C	p.G36R	Missense	2/11	-	1
9-4286320-C-T	c.106G>A	p.G36R	Missense	2/11	-	2
9-4286321-G-A	c.105C>T	p.S35=	Synonymous	2/11	-	3
9-4286321-G-C	c.105C>G	p.S35=	Synonymous	2/11	-	1
9-4286321-G-T	c.105C>A	p.S35=	Synonymous	2/11	-	1
9-4286322-G-T	c.104C>A	p.S35Y	Missense	2/11	-	1
9-4286325-T-C	c.101A>G	p.H34R	Missense	2/11	-	1
9-4286326-G-A	c.100C>T	p.H34Y	Missense	2/11	-	2
9-4286326-G-C	c.100C>G	p.H34D	Missense	2/11	-	1
9-4286326-G-T	c.100C>A	p.H34N	Missense	2/11	-	1
9-4286327-G-A	c.99C>T	p.A33=	Synonymous	2/11	-	1
9-4286327-G-C	c.99C>G	p.A33=	Synonymous	2/11	-	1
9-4286327-G-T	c.99C>A	p.A33=	Synonymous	2/11	-	1
9-4286328-G-A	c.98C>T	p.A33V	Missense	2/11	-	1
9-4286328-GC-CG	c.97_98delinsCG	p.A33R	Missense	2/11	-	1
9-4286329-C-T	c.97G>A	p.A33T	Missense	2/11	-	1
9-4286330-TCG-CCA	c.94_96delinsTGG	p.R32W	Missense	2/11	-	1
9-4286331-C-G	c.95G>C	p.R32P	Missense	2/11	-	2
9-4286331-C-T	c.95G>A	p.R32Q	Missense	2/11	-	1
9-4286332-G-A	c.94C>T	p.R32*	Nonsense	2/11	-	2
9-4286332-G-C	c.94C>G	p.R32G	Missense	2/11	-	1
9-4286334-A-G	c.92T>C	p.I31T	Missense	2/11	-	1
9-4286336-GG-CT	c.89_90delinsAG	p.A30E	Missense	2/11	-	1
9-4286337-G-A	c.89C>T	p.A30V	Missense	2/11	-	3
9-4286337-G-T	c.89C>A	p.A30D	Missense	2/11	-	2
9-4286339-A-G	c.87T>C	p.P29=	Synonymous	2/11	-	1
9-4286340-G-A	c.86C>T	p.P29L	Missense	2/11	-	1
9-4286341-G-A	c.85C>T	p.P29S	Missense	2/11	-	3
9-4286344-T-C	c.82A>G	p.I28V	Missense	2/11	-	2
9-4286345-G-C	c.81C>G	p.H27Q	Missense	2/11	-	1
9-4286346-T-A	c.80A>T	p.H27L	Missense	2/11	-	1
9-4286346-T-C	c.80A>G	p.H27R	Missense	2/11	-	1
9-4286347-G-A	c.79C>T	p.H27Y	Missense	2/11	-	10
9-4286348-A-C	c.78T>G	p.H26Q	Missense	2/11	-	1
9-4286348-A-T	c.78T>A	p.H26Q	Missense	2/11	-	1
9-4286352-C-T	c.74G>A	p.G25D	Missense	2/11	-	1
9-4286355-C-T	c.71G>A	p.S24N	Missense	2/11	-	1
9-4286357-G-A	c.69C>T	p.V23=	Synonymous	2/11	-	4
9-4286357-G-C	c.69C>G	p.V23=	Synonymous	2/11	-	2
9-4286357-G-T	c.69C>A	p.V23=	Synonymous	2/11	-	2
9-4286359-C-G	c.67G>C	p.V23L	Missense	2/11	-	2
9-4286362-T-C	c.64A>G	p.M22V	Missense	2/11	-	1
9-4286363-C-T	c.63G>A	p.R21=	Synonymous	2/11	-	2
9-4286365-T-G	c.61A>C	p.R21=	Synonymous	2/11	-	1
9-4286365-T-C	c.61A>G	p.R21G	Missense	2/11	-	1
9-4286370-C-A	c.56G>T	p.G19V	Missense	2/11	-	1
9-4286371-C-G	c.55G>C	p.G19R	Missense	2/11	-	1
9-4286371-C-T	c.55G>A	p.G19R	Missense	2/11	-	5
9-4286374-G-A	c.52C>T	p.Q18*	Nonsense	2/11	-	1
9-4286374-G-C	c.52C>G	p.Q18E	Missense	2/11	-	1
9-4286376-G-C	c.50C>G	p.P17R	Missense	2/11	-	1
9-4286376-G-T	c.50C>A	p.P17Q	Missense	2/11	-	1
9-4286377-G-C	c.49C>G	p.P17A	Missense	2/11	-	1
9-4286382-C-T	c.44G>A	p.G15E	Missense	2/11	-	1
9-4286385-G-A	c.41C>T	p.S14L	Missense	2/11	-	3
9-4286387-TG-CA	c.38_39inv	p.T13M	Missense	2/11	-	1
9-4286391-C-A	c.35G>T	p.R12L	Missense	2/11	-	1
9-4286391-C-T	c.35G>A	p.R12Q	Missense	2/11	-	2
9-4286390-C-A	c.36G>T	p.R12=	Synonymous	2/11	-	1
9-4286390-C-G	c.36G>C	p.R12=	Synonymous	2/11	-	1
9-4286390-C-T	c.36G>A	p.R12=	Synonymous	2/11	-	1
9-4286392-G-A	c.34C>T	p.R12W	Missense	2/11	-	4
9-4286392-G-T	c.34C>A	p.R12=	Synonymous	2/11	-	1
9-4286395-G-C	c.31C>G	p.H11D	Missense	2/11	-	1
9-4286395-G-T	c.31C>A	p.H11N	Missense	2/11	-	1
9-4286403-A-G	c.23T>C	p.M8T	Missense	2/11	-	4
9-4286408-G-GC	c.17dup	p.C6Wfs*16	Frameshift	2/11	-	1
9-4286410-A-C	c.16T>G	p.C6G	Missense	2/11	-	1
9-4286410-A-G	c.16T>C	p.C6R	Missense	2/11	-	2
9-4286418-C-T	c.8G>A	p.G3E	Missense	2/11	-	1
9-4286419-C-A	c.7G>T	p.G3*	Nonsense	2/11	-	1
9-4286423-C-A	c.3G>T	p.M1?	Missense	2/11	-	2
9-4286423-C-G	c.3G>C	p.M1?	Missense	2/11	-	2
9-4286423-C-T	c.3G>A	p.M1?	Missense	2/11	-	2
9-4286435-C-T	c.-10G>A	-	5-UTRSNV	2/11	-	1
9-4286672-C-T	c.-98-149G>A	-	IntronicSNV	-	1/10	1
9-4286700-T-A	c.-98-177A>T	-	IntronicSNV	-	1/10	1
9-4286700-T-C	c.-98-177A>G	-	IntronicSNV	-	1/10	1
9-4287113-C-T	c.-98-590G>A	-	IntronicSNV	-	1/10	1
9-4287179-A-C	c.-98-656T>G	-	IntronicSNV	-	1/10	1
9-4287190-C-T	c.-98-667G>A	-	IntronicSNV	-	1/10	1
9-4287211-G-C	c.-98-688C>G	-	IntronicSNV	-	1/10	3
9-4287450-C-T	c.-98-927G>A	-	IntronicSNV	-	1/10	1
9-4287466-A-G	c.-98-943T>C	-	IntronicSNV	-	1/10	59
9-4289050-C-A	c.-98-2527G>T	-	IntronicSNV	-	1/10	65
9-4289050-C-G	c.-98-2527G>C	-	IntronicSNV	-	1/10	65
9-4289196-T-C	c.-98-2673A>G	-	IntronicSNV	-	1/10	4
9-4289809-G-C	c.-98-3286C>G	-	IntronicSNV	-	1/10	3
9-4289809-G-T	c.-98-3286C>A	-	IntronicSNV	-	1/10	3
9-4290085-G-A	c.-98-3562C>T	-	IntronicSNV	-	1/10	14
9-4290085-G-C	c.-98-3562C>G	-	IntronicSNV	-	1/10	14
9-4290085-G-T	c.-98-3562C>A	-	IntronicSNV	-	1/10	14
9-4290541-C-A	c.-98-4018G>T	-	IntronicSNV	-	1/10	8
9-4290541-C-T	c.-98-4018G>A	-	IntronicSNV	-	1/10	8
9-4290544-T-C	c.-98-4021A>G	-	IntronicSNV	-	1/10	10
9-4290730-C-A	c.-98-4207G>T	-	IntronicSNV	-	1/10	1
9-4290730-C-T	c.-98-4207G>A	-	IntronicSNV	-	1/10	1
9-4290823-A-C	c.-98-4300T>G	-	IntronicSNV	-	1/10	8
9-4290823-A-T	c.-98-4300T>A	-	IntronicSNV	-	1/10	8
9-4291268-C-T	c.-98-4745G>A	-	IntronicSNV	-	1/10	2
9-4291747-C-A	c.-98-5224G>T	-	IntronicSNV	-	1/10	41
9-4291747-C-G	c.-98-5224G>C	-	IntronicSNV	-	1/10	41
9-4291928-A-C	c.-98-5405T>G	-	IntronicSNV	-	1/10	13
9-4292012-T-A	c.-98-5489A>T	-	IntronicSNV	-	1/10	1
9-4292012-T-C	c.-98-5489A>G	-	IntronicSNV	-	1/10	1
9-4292083-G-A	c.-98-5560C>T	-	IntronicSNV	-	1/10	24
9-4292119-C-G	c.-98-5596G>C	-	IntronicSNV	-	1/10	1
9-4292152-A-C	c.-98-5629T>G	-	IntronicSNV	-	1/10	5
9-4292152-A-G	c.-98-5629T>C	-	IntronicSNV	-	1/10	5
9-4292307-C-G	c.-98-5784G>C	-	IntronicSNV	-	1/10	1
9-4293150-A-C	c.-99+6271T>G	-	intron_variant	-	1/10	21
9-4295583-A-G	c.-99+3838T>C	-	intron_variant	-	1/10	6
9-4295880-T-G	c.-99+3541A>C	-	intron_variant	-	1/10	2
9-4296430-A-G	c.-99+2991T>C	-	intron_variant	-	1/10	2
9-4297892-T-C	c.-99+1529A>G	-	intron_variant	-	1/10	2
9-4298537-G-A	c.-99+884C>T	-	intron_variant	-	1/10	2
9-4298589-G-A	c.-99+832C>T	-	intron_variant	-	1/10	3
9-4299453-C-A	c.-131G>T	-	5_prime_UTR_variant	1/11	-	3
9-4299453-C-T	c.-131G>A	-	5_prime_UTR_variant	1/11	-	3
9-4300003-G-A	c.-681C>T	-	5_prime_UTR_variant	1/11	-	2