DDX58

DDX58 DExD/H-box helicase 58

Annotation transcript: NM_014314.4

1337 unique variant annotations were identified in 1409 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
9-32455320-C-T	c.*1800G>A	-	3-UTRSNV	18/18	-	4
9-32455542-G-A	c.*1578C>T	-	3-UTRSNV	18/18	-	2
9-32455542-G-T	c.*1578C>A	-	3-UTRSNV	18/18	-	2
9-32455674-A-G	c.*1446T>C	-	3-UTRSNV	18/18	-	7
9-32456017-G-A	c.*1103C>T	-	3-UTRSNV	18/18	-	8
9-32456656-G-A	c.*464C>T	-	3-UTRSNV	18/18	-	3
9-32456727-A-G	c.*393T>C	-	3-UTRSNV	18/18	-	2
9-32457125-T-C	c.2773A>G	p.K925E	Missense	18/18	-	1
9-32457126-G-A	c.2772C>T	p.S924=	Synonymous	18/18	-	1
9-32457126-G-C	c.2772C>G	p.S924=	Synonymous	18/18	-	1
9-32457126-G-T	c.2772C>A	p.S924=	Synonymous	18/18	-	2
9-32457132-T-A	c.2766A>T	p.E922D	Missense	18/18	-	1
9-32457132-T-G	c.2766A>C	p.E922D	Missense	18/18	-	1
9-32457134-C-T	c.2764G>A	p.E922K	Missense	18/18	-	1
9-32457137-C-T	c.2761G>A	p.A921T	Missense	18/18	-	1
9-32457142-T-G	c.2756A>C	p.D919A	Missense	18/18	-	1
9-32457143-C-T	c.2755G>A	p.D919N	Missense	18/18	-	2
9-32457149-G-A	c.2749C>T	p.P917S	Missense	18/18	-	2
9-32457151-A-G	c.2747T>C	p.I916T	Missense	18/18	-	1
9-32457153-C-T	c.2745G>A	p.K915=	Synonymous	18/18	-	1
9-32457161-A-AG	c.2736_2737insC	p.F913Lfs*2	Frameshift	18/18	-	1
9-32457168-G-C	c.2730C>G	p.D910E	Missense	18/18	-	1
9-32457168-G-T	c.2730C>A	p.D910E	Missense	18/18	-	1
9-32457170-C-T	c.2728G>A	p.D910N	Missense	18/18	-	1
9-32457171-C-T	c.2727G>A	p.K909=	Synonymous	18/18	-	1
9-32457172-T-C	c.2726A>G	p.K909R	Missense	18/18	-	3
9-32457172-TT-GC	c.2725_2726delinsGC	p.K909A	Missense	18/18	-	1
9-32457173-T-G	c.2725A>C	p.K909Q	Missense	18/18	-	2
9-32457178-T-C	c.2720A>G	p.K907R	Missense	18/18	-	1
9-32457178-TT-GC	c.2719_2720delinsGC	p.K907A	Missense	18/18	-	3
9-32457179-T-A	c.2719A>T	p.K907*	Nonsense	18/18	-	2
9-32457179-T-C	c.2719A>G	p.K907E	Missense	18/18	-	2
9-32457181-G-A	c.2717C>T	p.S906L	Missense	18/18	-	1
9-32457186-C-A	c.2712G>T	p.L904=	Synonymous	18/18	-	2
9-32457186-C-G	c.2712G>C	p.L904=	Synonymous	18/18	-	2
9-32457186-C-T	c.2712G>A	p.L904=	Synonymous	18/18	-	3
9-32457188-G-A	c.2710C>T	p.L904=	Synonymous	18/18	-	2
9-32457187-AG-GC	c.2710_2711delinsGC	p.L904A	Missense	18/18	-	1
9-32457188-G-T	c.2710C>A	p.L904M	Missense	18/18	-	1
9-32457189-T-A	c.2709A>T	p.T903=	Synonymous	18/18	-	2
9-32457189-T-C	c.2709A>G	p.T903=	Synonymous	18/18	-	6
9-32457189-T-G	c.2709A>C	p.T903=	Synonymous	18/18	-	2
9-32457191-T-C	c.2707A>G	p.T903A	Missense	18/18	-	1
9-32457192-C-A	c.2706G>T	p.Q902H	Missense	18/18	-	1
9-32457198-TCC-GCT	c.2698_2700delinsAGC	p.G900S	Missense	18/18	-	1
9-32457200-C-G	c.2698G>C	p.G900R	Missense	18/18	-	2
9-32457200-C-T	c.2698G>A	p.G900R	Missense	18/18	-	5
9-32457215-C-T	c.2683G>A	p.E895K	Missense	18/18	-	1
9-32457217-A-C	c.2681T>G	p.V894G	Missense	18/18	-	1
9-32457226-C-CGAA	c.2671_2672insTTC	p.S891delinsIR	MultiAAMissense	18/18	-	1
9-32457227-T-A	c.2671A>T	p.S891C	Missense	18/18	-	1
9-32457229-T-C	c.2669A>G	p.E890G	Missense	18/18	-	1
9-32457230-C-T	c.2668G>A	p.E890K	Missense	18/18	-	1
9-32457231-A-C	c.2667T>G	p.I889M	Missense	18/18	-	1
9-32457232-A-G	c.2666T>C	p.I889T	Missense	18/18	-	1
9-32457232-A-T	c.2666T>A	p.I889N	Missense	18/18	-	1
9-32457233-T-G	c.2665A>C	p.I889L	Missense	18/18	-	4
9-32457235-T-C	c.2663A>G	p.K888R	Missense	18/18	-	1
9-32457235-TT-GC	c.2662_2663delinsGC	p.K888A	Missense	18/18	-	5
9-32457236-T-C	c.2662A>G	p.K888E	Missense	18/18	-	2
9-32457238-A-G	c.2660T>C	p.I887T	Missense	18/18	-	3
9-32457240-AAC-CAT	c.2656_2658delinsATG	p.V886M	Missense	18/18	-	1
9-32457241-A-G	c.2657T>C	p.V886A	Missense	18/18	-	1
9-32457245-G-A	c.2653C>T	p.P885S	Missense	18/18	-	8
9-32457249-C-T	c.2649G>A	p.E883=	Synonymous	18/18	-	1
9-32457251-C-T	c.2647G>A	p.E883K	Missense	18/18	-	1
9-32457258-C-A	c.2640G>T	p.K880N	Missense	18/18	-	1
9-32457258-C-G	c.2640G>C	p.K880N	Missense	18/18	-	1
9-32457258-C-T	c.2640G>A	p.K880=	Synonymous	18/18	-	1
9-32457263-A-G	c.2635T>C	p.Y879H	Missense	18/18	-	1
9-32457264-C-T	c.2634G>A	p.K878=	Synonymous	18/18	-	2
9-32457281-A-C	c.2617T>G	p.W873G	Missense	18/18	-	1
9-32457283-T-G	c.2615A>C	p.D872A	Missense	18/18	-	1
9-32457285-ATG-CTC	c.2611_2613delinsGAG	p.H871E	Missense	18/18	-	1
9-32457287-G-A	c.2611C>T	p.H871Y	Missense	18/18	-	1
9-32457289-C-T	c.2609G>A	p.S870N	Missense	18/18	-	1
9-32457292-CA-GT	c.2605_2606delinsAC	p.C869T	Missense	18/18	-	1
9-32457292-C-G	c.2606G>C	p.C869S	Missense	18/18	-	1
9-32457293-A-T	c.2605T>A	p.C869S	Missense	18/18	-	1
9-32457294-G-C	c.2604C>G	p.N868K	Missense	18/18	-	1
9-32457294-G-T	c.2604C>A	p.N868K	Missense	18/18	-	1
9-32457296-T-G	c.2602A>C	p.N868H	Missense	18/18	-	2
9-32457301-CG-TC	c.2596_2597delinsGA	p.R866E	Missense	18/18	-	1
9-32457301-C-T	c.2597G>A	p.R866Q	Missense	18/18	-	6
9-32457307-C-T	c.2591G>A	p.C864Y	Missense	18/18	-	1
9-32457308-A-G	c.2590T>C	p.C864R	Missense	18/18	-	1
9-32457312-T-C	c.2586A>G	p.I862M	Missense	18/18	-	1
9-32457316-T-G	c.2582A>C	p.K861T	Missense	18/18	-	1
9-32457316-TT-GC	c.2581_2582delinsGC	p.K861A	Missense	18/18	-	4
9-32457317-T-C	c.2581A>G	p.K861E	Missense	18/18	-	1
9-32457320-C-T	c.2578G>A	p.A860T	Missense	18/18	-	4
9-32457322-C-T	c.2576G>A	p.R859K	Missense	18/18	-	2
9-32457323-T-C	c.2575A>G	p.R859G	Missense	18/18	-	2
9-32457324-T-C	c.2574A>G	p.K858=	Synonymous	18/18	-	1
9-32457324-T-G	c.2574A>C	p.K858N	Missense	18/18	-	1
9-32457325-T-C	c.2573A>G	p.K858R	Missense	18/18	-	2
9-32457325-TT-GC	c.2572_2573delinsGC	p.K858A	Missense	18/18	-	8
9-32457326-T-C	c.2572A>G	p.K858E	Missense	18/18	-	2
9-32457326-T-G	c.2572A>C	p.K858Q	Missense	18/18	-	2
9-32457327-T-C	c.2571A>G	p.E857=	Synonymous	18/18	-	1
9-32457322-C-CT	c.2575dup	p.R859Kfs*14	Frameshift	18/18	-	1
9-32457328-T-C	c.2570A>G	p.E857G	Missense	18/18	-	1
9-32457331-A-G	c.2567T>C	p.F856S	Missense	18/18	-	1
9-32457334-C-T	c.2564G>A	p.S855N	Missense	18/18	-	1
9-32457338-A-C	c.2560T>G	p.S854A	Missense	18/18	-	1
9-32457340-AA-GC	c.2557_2558delinsGC	p.F853A	Missense	18/18	-	2
9-32457340-A-C	c.2558T>G	p.F853C	Missense	18/18	-	1
9-32457343-T-A	c.2555A>T	p.Q852L	Missense	18/18	-	1
9-32457346-T-C	c.2552A>G	p.K851R	Missense	18/18	-	1
9-32457346-TT-GC	c.2551_2552delinsGC	p.K851A	Missense	18/18	-	2
9-32457349-G-A	c.2549C>T	p.P850L	Missense	18/18	-	1
9-32457349-G-T	c.2549C>A	p.P850Q	Missense	18/18	-	3
9-32457351-C-G	c.2547G>C	p.K849N	Missense	18/18	-	1
9-32457352-T-C	c.2546A>G	p.K849R	Missense	18/18	-	1
9-32457352-TT-GC	c.2545_2546delinsGC	p.K849A	Missense	18/18	-	1
9-32457353-T-C	c.2545A>G	p.K849E	Missense	18/18	-	1
9-32457356-G-A	c.2542C>T	p.P848S	Missense	18/18	-	1
9-32457358-T-C	c.2540A>G	p.H847R	Missense	18/18	-	1
9-32457358-TG-GC	c.2539_2540delinsGC	p.H847A	Missense	18/18	-	3
9-32457359-G-A	c.2539C>T	p.H847Y	Missense	18/18	-	1
9-32457362-G-A	c.2536C>T	p.P846S	Missense	18/18	-	1
9-32457363-T-A	c.2535A>T	p.R845S	Missense	18/18	-	1
9-32457363-T-G	c.2535A>C	p.R845S	Missense	18/18	-	1
9-32457367-C-T	c.2531G>A	p.S844N	Missense	18/18	-	2
9-32457373-A-G	c.2525T>C	p.F842S	Missense	18/18	-	1
9-32457375-G-A	c.2523C>T	p.C841=	Synonymous	18/18	-	1
9-32457379-T-C	c.2519A>G	p.E840G	Missense	18/18	-	3
9-32457382-T-G	c.2516A>C	p.K839T	Missense	18/18	-	1
9-32457394-C-A	c.2504G>T	p.G835V	Missense	18/18	-	1
9-32457398-G-A	c.2500C>T	p.L834F	Missense	18/18	-	1
9-32457402-A-C	c.2496T>G	p.T832=	Synonymous	18/18	-	1
9-32457402-A-G	c.2496T>C	p.T832=	Synonymous	18/18	-	1
9-32457402-A-T	c.2496T>A	p.T832=	Synonymous	18/18	-	1
9-32457404-T-C	c.2494A>G	p.T832A	Missense	18/18	-	1
9-32457406-T-C	c.2492A>G	p.Y831C	Missense	18/18	-	1
9-32457409-TG-GC	c.2488_2489delinsGC	p.H830A	Missense	18/18	-	7
9-32457410-G-A	c.2488C>T	p.H830Y	Missense	18/18	-	1
9-32457411-G-A	c.2487C>T	p.C829=	Synonymous	18/18	-	1
9-32457412-CA-GC	c.2485_2486delinsGC	p.C829A	Missense	18/18	-	1
9-32457412-CA-GT	c.2485_2486delinsAC	p.C829T	Missense	18/18	-	1
9-32457412-C-G	c.2486G>C	p.C829S	Missense	18/18	-	1
9-32457413-A-T	c.2485T>A	p.C829S	Missense	18/18	-	1
9-32457455-G-A	c.2482-39C>T	-	IntronicSNV	-	17/17	1
9-32457455-G-T	c.2482-39C>A	-	IntronicSNV	-	17/17	1
9-32457529-G-A	c.2482-113C>T	-	IntronicSNV	-	17/17	3
9-32457558-A-G	c.2482-142T>C	-	IntronicSNV	-	17/17	6
9-32458053-A-G	c.2482-637T>C	-	IntronicSNV	-	17/17	7
9-32458081-T-C	c.2482-665A>G	-	IntronicSNV	-	17/17	3
9-32458243-G-A	c.2482-827C>T	-	IntronicSNV	-	17/17	1
9-32458565-T-G	c.2481+804A>C	-	IntronicSNV	-	17/17	1
9-32459124-A-AT	c.2481+244dup	-	IntronicInsertion	-	17/17	1
9-32459369-C-T	c.2481G>A	p.E827=	Synonymous	17/18	-	1
9-32459372-T-C	c.2478A>G	p.I826M	Missense	17/18	-	1
9-32459375-C-T	c.2475G>A	p.V825=	Synonymous	17/18	-	1
9-32459383-C-T	c.2467G>A	p.V823I	Missense	17/18	-	6
9-32459384-G-A	c.2466C>T	p.D822=	Synonymous	17/18	-	1
9-32459385-T-C	c.2465A>G	p.D822G	Missense	17/18	-	1
9-32459387-A-C	c.2463T>G	p.A821=	Synonymous	17/18	-	1
9-32459387-A-G	c.2463T>C	p.A821=	Synonymous	17/18	-	1
9-32459387-A-T	c.2463T>A	p.A821=	Synonymous	17/18	-	1
9-32459393-G-A	c.2457C>T	p.Y819=	Synonymous	17/18	-	2
9-32459397-CA-GT	c.2452_2453delinsAC	p.C818T	Missense	17/18	-	1
9-32459401-C-T	c.2449G>A	p.A817T	Missense	17/18	-	1
9-32459403-A-C	c.2447T>G	p.L816W	Missense	17/18	-	1
9-32459403-A-G	c.2447T>C	p.L816S	Missense	17/18	-	1
9-32459409-T-C	c.2441A>G	p.K814R	Missense	17/18	-	2
9-32459409-TT-GC	c.2440_2441delinsGC	p.K814A	Missense	17/18	-	1
9-32459413-A-C	c.2437T>G	p.C813G	Missense	17/18	-	1
9-32459413-A-G	c.2437T>C	p.C813R	Missense	17/18	-	1
9-32459414-CT-GC	c.2435_2436delinsGC	p.K812S	Missense	17/18	-	1
9-32459415-T-C	c.2435A>G	p.K812R	Missense	17/18	-	2
9-32459416-T-C	c.2434A>G	p.K812E	Missense	17/18	-	1
9-32459417-T-A	c.2433A>T	p.R811S	Missense	17/18	-	1
9-32459417-T-G	c.2433A>C	p.R811S	Missense	17/18	-	1
9-32459418-CT-TC	c.2431_2432delinsGA	p.R811E	Missense	17/18	-	1
9-32459420-G-T	c.2430C>A	p.C810*	Nonsense	17/18	-	1
9-32459425-G-A	c.2425C>T	p.L809F	Missense	17/18	-	1
9-32459425-G-C	c.2425C>G	p.L809V	Missense	17/18	-	1
9-32459428-G-GT	c.2421dup	p.L808Tfs*15	Frameshift	17/18	-	1
9-32459428-GT-G	c.2421del	p.K807Nfs*17	Frameshift	17/18	-	2
9-32459440-C-G	c.2410G>C	p.E804Q	Missense	17/18	-	1
9-32459449-G-A	c.2401C>T	p.P801S	Missense	17/18	-	1
9-32459450-T-A	c.2400A>T	p.V800=	Synonymous	17/18	-	20
9-32459450-T-C	c.2400A>G	p.V800=	Synonymous	17/18	-	15
9-32459450-T-G	c.2400A>C	p.V800=	Synonymous	17/18	-	19
9-32459462-T-C	c.2388A>G	p.K796=	Synonymous	17/18	-	1
9-32459463-T-C	c.2387A>G	p.K796R	Missense	17/18	-	1
9-32459464-T-TA	c.2385_2386insT	p.K796*	Nonsense	17/18	-	1
9-32459461-GT-G	c.2388del	p.K796Nfs*28	Frameshift	17/18	-	3
9-32459470-G-A	c.2380C>T	p.Q794*	Nonsense	17/18	-	2
9-32459476-C-A	c.2374G>T	p.D792Y	Missense	17/18	-	1
9-32459476-C-CA	c.2373_2374insT	p.D792*	Nonsense	17/18	-	1
9-32459478-CT-GC	c.2371_2372delinsGC	p.R791A	Missense	17/18	-	1
9-32459479-T-C	c.2371A>G	p.R791G	Missense	17/18	-	1
9-32459483-G-T	c.2367C>A	p.F789L	Missense	17/18	-	3
9-32459486-T-C	c.2364A>G	p.K788=	Synonymous	17/18	-	1
9-32459487-T-C	c.2363A>G	p.K788R	Missense	17/18	-	1
9-32459487-T-G	c.2363A>C	p.K788T	Missense	17/18	-	1
9-32459487-TT-GC	c.2362_2363delinsGC	p.K788A	Missense	17/18	-	1
9-32459485-A-AT	c.2364dup	p.F789Ifs*5	Frameshift	17/18	-	1
9-32459491-C-T	c.2359G>A	p.E787K	Missense	17/18	-	1
9-32459494-G-A	c.2356C>T	p.H786Y	Missense	17/18	-	7
9-32459496-G-A	c.2354C>T	p.T785I	Missense	17/18	-	1
9-32459496-GT-CA	c.2353_2354delinsTG	p.T785C	Missense	17/18	-	1
9-32459499-TG-GC	c.2350_2351delinsGC	p.Q784A	Missense	17/18	-	2
9-32459512-T-G	c.2338A>C	p.I780L	Missense	17/18	-	1
9-32461331-G-A	c.2338-1819C>T	-	IntronicSNV	-	16/17	2
9-32464135-G-C	c.2337+2153C>G	-	IntronicSNV	-	16/17	4
9-32464483-G-T	c.2337+1805C>A	-	IntronicSNV	-	16/17	2
9-32465650-C-G	c.2337+638G>C	-	IntronicSNV	-	16/17	1
9-32465770-G-A	c.2337+518C>T	-	IntronicSNV	-	16/17	2
9-32466184-G-A	c.2337+104C>T	-	IntronicSNV	-	16/17	5
9-32466277-C-T	c.2337+11G>A	-	IntronicSNV	-	16/17	3
9-32466287-C-T	c.2337+1G>A	-	IntronicSNV	-	16/17	1
9-32466288-C-G	c.2337G>C	p.K779N	Missense	16/18	-	1
9-32466288-C-T	c.2337G>A	p.K779=	Synonymous	16/18	-	1
9-32466288-CT-C	c.2336del	p.K779Rfs*45	Frameshift	16/18	-	1
9-32466308-C-T	c.2317G>A	p.E773K	Missense	16/18	-	5
9-32466316-G-A	c.2309C>T	p.T770I	Missense	16/18	-	1
9-32466319-TG-GC	c.2305_2306delinsGC	p.Q769A	Missense	16/18	-	1
9-32466323-G-A	c.2302C>T	p.L768F	Missense	16/18	-	1
9-32466325-C-T	c.2300G>A	p.R767H	Missense	16/18	-	5
9-32466326-G-A	c.2299C>T	p.R767C	Missense	16/18	-	1
9-32466330-A-C	c.2295T>G	p.I765M	Missense	16/18	-	1
9-32466327-TA-T	c.2297del	p.L766Yfs*58	Frameshift	16/18	-	1
9-32466334-G-A	c.2291C>T	p.S764F	Missense	16/18	-	2
9-32466334-G-C	c.2291C>G	p.S764C	Missense	16/18	-	2
9-32466343-A-C	c.2282T>G	p.M761R	Missense	16/18	-	1
9-32466345-C-A	c.2280G>T	p.M760I	Missense	16/18	-	1
9-32466345-C-G	c.2280G>C	p.M760I	Missense	16/18	-	1
9-32466345-C-T	c.2280G>A	p.M760I	Missense	16/18	-	2
9-32466346-A-C	c.2279T>G	p.M760R	Missense	16/18	-	1
9-32466346-A-G	c.2279T>C	p.M760T	Missense	16/18	-	1
9-32466349-T-C	c.2276A>G	p.K759R	Missense	16/18	-	1
9-32466353-C-A	c.2272G>T	p.E758*	Nonsense	16/18	-	2
9-32466353-C-T	c.2272G>A	p.E758K	Missense	16/18	-	2
9-32466354-T-C	c.2271A>G	p.K757=	Synonymous	16/18	-	1
9-32466362-T-A	c.2263A>T	p.M755L	Missense	16/18	-	1
9-32466364-TT-GC	c.2260_2261delinsGC	p.N754A	Missense	16/18	-	1
9-32466365-T-G	c.2260A>C	p.N754H	Missense	16/18	-	1
9-32466367-A-G	c.2258T>C	p.I753T	Missense	16/18	-	1
9-32466373-T-G	c.2252A>C	p.E751A	Missense	16/18	-	1
9-32466376-TT-GC	c.2248_2249delinsGC	p.K750A	Missense	16/18	-	1
9-32466378-T-A	c.2247A>T	p.E749D	Missense	16/18	-	1
9-32466382-A-G	c.2243T>C	p.I748T	Missense	16/18	-	1
9-32466383-T-C	c.2242A>G	p.I748V	Missense	16/18	-	1
9-32466386-C-T	c.2239G>A	p.V747I	Missense	16/18	-	1
9-32466387-A-C	c.2238T>G	p.G746=	Synonymous	16/18	-	1
9-32466388-C-T	c.2237G>A	p.G746D	Missense	16/18	-	1
9-32466392-C-A	c.2233G>T	p.A745S	Missense	16/18	-	1
9-32466401-T-C	c.2224A>G	p.T742A	Missense	16/18	-	1
9-32466404-G-A	c.2221C>T	p.L741=	Synonymous	16/18	-	1
9-32466404-G-C	c.2221C>G	p.L741V	Missense	16/18	-	1
9-32466412-C-G	c.2213G>C	p.C738S	Missense	16/18	-	1
9-32466414-C-T	c.2211G>A	p.K737=	Synonymous	16/18	-	1
9-32466424-C-G	c.2201G>C	p.R734T	Missense	16/18	-	1
9-32466426-T-C	c.2199A>G	p.A733=	Synonymous	16/18	-	1
9-32466427-G-C	c.2198C>G	p.A733G	Missense	16/18	-	1
9-32466435-T-C	c.2190A>G	p.R730=	Synonymous	16/18	-	1
9-32466436-C-G	c.2189G>C	p.R730T	Missense	16/18	-	3
9-32466462-G-C	c.2186-23C>G	-	IntronicSNV	-	15/17	1
9-32466462-G-T	c.2186-23C>A	-	IntronicSNV	-	15/17	1
9-32467129-G-A	c.2185+631C>T	-	IntronicSNV	-	15/17	3
9-32467708-T-A	c.2185+52A>T	-	IntronicSNV	-	15/17	3
9-32467708-T-C	c.2185+52A>G	-	IntronicSNV	-	15/17	1
9-32467759-C-T	c.2185+1G>A	-	IntronicSNV	-	15/17	1
9-32467762-C-G	c.2183G>C	p.R728T	Missense	15/18	-	1
9-32467762-C-T	c.2183G>A	p.R728K	Missense	15/18	-	1
9-32467764-G-A	c.2181C>T	p.T727=	Synonymous	15/18	-	1
9-32467765-G-A	c.2180C>T	p.T727I	Missense	15/18	-	1
9-32467765-GT-CA	c.2179_2180delinsTG	p.T727C	Missense	15/18	-	1
9-32467766-T-C	c.2179A>G	p.T727A	Missense	15/18	-	1
9-32467766-T-G	c.2179A>C	p.T727P	Missense	15/18	-	1
9-32467779-G-A	c.2166C>T	p.I722=	Synonymous	15/18	-	1
9-32467782-G-T	c.2163C>A	p.V721=	Synonymous	15/18	-	1
9-32467790-C-T	c.2155G>A	p.G719S	Missense	15/18	-	2
9-32467791-C-A	c.2154G>T	p.V718=	Synonymous	15/18	-	1
9-32467798-T-G	c.2147A>C	p.E716A	Missense	15/18	-	1
9-32467799-C-A	c.2146G>T	p.E716*	Nonsense	15/18	-	1
9-32467804-A-C	c.2141T>G	p.L714R	Missense	15/18	-	1
9-32467809-G-T	c.2136C>A	p.V712=	Synonymous	15/18	-	1
9-32467816-T-A	c.2129A>T	p.N710I	Missense	15/18	-	2
9-32467816-T-C	c.2129A>G	p.N710S	Missense	15/18	-	1
9-32467822-T-A	c.2123A>T	p.Q708L	Missense	15/18	-	1
9-32467822-T-C	c.2123A>G	p.Q708R	Missense	15/18	-	1
9-32467828-A-G	c.2117T>C	p.I706T	Missense	15/18	-	2
9-32467829-T-C	c.2116A>G	p.I706V	Missense	15/18	-	1
9-32467830-G-A	c.2115C>T	p.D705=	Synonymous	15/18	-	1
9-32467834-A-G	c.2111T>C	p.I704T	Missense	15/18	-	1
9-32467840-T-G	c.2105A>C	p.E702A	Missense	15/18	-	2
9-32467844-C-T	c.2101G>A	p.D701N	Missense	15/18	-	11
9-32467849-A-C	c.2096T>G	p.V699G	Missense	15/18	-	1
9-32467849-A-G	c.2096T>C	p.V699A	Missense	15/18	-	2
9-32467849-A-T	c.2096T>A	p.V699D	Missense	15/18	-	1
9-32467853-A-C	c.2092T>G	p.S698A	Missense	15/18	-	1
9-32467854-GG-CA	c.2090_2091delinsTG	p.T697M	Missense	15/18	-	1
9-32467856-T-C	c.2089A>G	p.T697A	Missense	15/18	-	2
9-32467857-G-A	c.2088C>T	p.A696=	Synonymous	15/18	-	1
9-32467857-G-C	c.2088C>G	p.A696=	Synonymous	15/18	-	1
9-32467857-G-T	c.2088C>A	p.A696=	Synonymous	15/18	-	1
9-32467863-C-A	c.2082G>T	p.L694=	Synonymous	15/18	-	1
9-32467863-C-G	c.2082G>C	p.L694=	Synonymous	15/18	-	1
9-32467863-C-T	c.2082G>A	p.L694=	Synonymous	15/18	-	1
9-32467865-G-A	c.2080C>T	p.L694=	Synonymous	15/18	-	1
9-32467864-AG-TC	c.2080_2081delinsGA	p.L694E	Missense	15/18	-	1
9-32467870-TT-GC	c.2074_2075delinsGC	p.N692A	Missense	15/18	-	1
9-32467873-T-C	c.2072A>G	p.H691R	Missense	15/18	-	1
9-32467874-G-A	c.2071C>T	p.H691Y	Missense	15/18	-	2
9-32467878-T-C	c.2067A>G	p.G689=	Synonymous	15/18	-	1
9-32467891-A-G	c.2054T>C	p.F685S	Missense	15/18	-	1
9-32467897-T-C	c.2048A>G	p.D683G	Missense	15/18	-	1
9-32467905-A-G	c.2040T>C	p.C680=	Synonymous	15/18	-	1
9-32467908-C-T	c.2037G>A	p.K679=	Synonymous	15/18	-	1
9-32467913-G-A	c.2032C>T	p.Q678*	Nonsense	15/18	-	3
9-32467918-G-A	c.2027C>T	p.P676L	Missense	15/18	-	1
9-32467920-G-A	c.2025C>T	p.L675=	Synonymous	15/18	-	1
9-32467920-G-C	c.2025C>G	p.L675=	Synonymous	15/18	-	1
9-32467920-G-T	c.2025C>A	p.L675=	Synonymous	15/18	-	1
9-32467922-G-C	c.2023C>G	p.L675V	Missense	15/18	-	1
9-32467927-A-G	c.2018T>C	p.M673T	Missense	15/18	-	1
9-32467930-C-T	c.2015G>A	p.G672E	Missense	15/18	-	1
9-32467960-C-T	c.2015-30G>A	-	IntronicSNV	-	14/17	1
9-32468875-G-A	c.2015-945C>T	-	IntronicSNV	-	14/17	1
9-32468894-A-C	c.2015-964T>G	-	IntronicSNV	-	14/17	1
9-32469905-T-C	c.2015-1975A>G	-	IntronicSNV	-	14/17	1
9-32472895-A-G	c.2014+78T>C	-	IntronicSNV	-	14/17	3
9-32472975-GT-TC	c.2011_2012delinsGA	p.T671E	Missense	14/18	-	1
9-32472977-G-C	c.2010C>G	p.N670K	Missense	14/18	-	1
9-32472977-G-T	c.2010C>A	p.N670K	Missense	14/18	-	1
9-32472984-TT-GC	c.2002_2003delinsGC	p.N668A	Missense	14/18	-	1
9-32472985-T-C	c.2002A>G	p.N668D	Missense	14/18	-	1
9-32472987-GT-TC	c.1999_2000delinsGA	p.T667E	Missense	14/18	-	1
9-32472989-T-C	c.1998A>G	p.K666=	Synonymous	14/18	-	1
9-32472993-CC-TT	c.1993_1994delinsAA	p.G665N	Missense	14/18	-	1
9-32472993-C-T	c.1994G>A	p.G665D	Missense	14/18	-	1
9-32472994-C-T	c.1993G>A	p.G665S	Missense	14/18	-	1
9-32472995-AC-TT	c.1991_1992delinsAA	p.R664Q	Missense	14/18	-	1
9-32472996-CG-TT	c.1990_1991delinsAA	p.R664N	Missense	14/18	-	1
9-32472996-C-T	c.1991G>A	p.R664H	Missense	14/18	-	2
9-32472997-G-A	c.1990C>T	p.R664C	Missense	14/18	-	2
9-32473004-TCAATATGCCAGG-T	c.1972_1983del	p.P658_L661del	InFrameDeletion	14/18	-	2
9-32473011-C-A	c.1976G>T	p.G659V	Missense	14/18	-	1
9-32473011-C-T	c.1976G>A	p.G659D	Missense	14/18	-	1
9-32473012-C-A	c.1975G>T	p.G659C	Missense	14/18	-	1
9-32473016-T-C	c.1971A>G	p.K657=	Synonymous	14/18	-	1
9-32473025-A-C	c.1962T>G	p.S654R	Missense	14/18	-	1
9-32473025-A-T	c.1962T>A	p.S654R	Missense	14/18	-	1
9-32473027-T-G	c.1960A>C	p.S654R	Missense	14/18	-	1
9-32473026-AC-A	c.1961del	p.S654Ifs*3	Frameshift	14/18	-	1
9-32473031-T-C	c.1956A>G	p.K652=	Synonymous	14/18	-	1
9-32473032-T-C	c.1955A>G	p.K652R	Missense	14/18	-	1
9-32473035-G-A	c.1952C>T	p.P651L	Missense	14/18	-	1
9-32473047-A-G	c.1940T>C	p.I647T	Missense	14/18	-	1
9-32473048-T-C	c.1939A>G	p.I647V	Missense	14/18	-	1
9-32473055-T-C	c.1932A>G	p.K644=	Synonymous	14/18	-	1
9-32473052-AT-A	c.1934del	p.N645Ifs*12	Frameshift	14/18	-	1
9-32473058-T-A	c.1929A>T	p.L643F	Missense	14/18	-	1
9-32473063-C-G	c.1924G>C	p.A642P	Missense	14/18	-	2
9-32473088-T-C	c.1924-25A>G	-	IntronicSNV	-	13/17	1
9-32474690-G-A	c.1924-1627C>T	-	IntronicSNV	-	13/17	1
9-32476513-A-G	c.1923+468T>C	-	IntronicSNV	-	13/17	1
9-32476512-GA-G	c.1923+468del	-	IntronicDeletion	-	13/17	1
9-32476899-C-T	c.1923+82G>A	-	IntronicSNV	-	13/17	1
9-32476979-A-G	c.1923+2T>C	-	IntronicSNV	-	13/17	1
9-32476982-T-C	c.1922A>G	p.D641G	Missense	13/18	-	1
9-32476986-C-T	c.1918G>A	p.V640M	Missense	13/18	-	1
9-32476988-A-G	c.1916T>C	p.L639P	Missense	13/18	-	1
9-32476993-TC-GT	c.1910_1911delinsAC	p.R637N	Missense	13/18	-	1
9-32476995-T-C	c.1909A>G	p.R637G	Missense	13/18	-	1
9-32476996-G-A	c.1908C>T	p.T636=	Synonymous	13/18	-	1
9-32476997-G-C	c.1907C>G	p.T636S	Missense	13/18	-	1
9-32477000-TT-GC	c.1903_1904delinsGC	p.K635A	Missense	13/18	-	1
9-32477004-CAA-C	c.1898_1899del	p.F633Cfs*15	Frameshift	13/18	-	1
9-32477010-G-A	c.1894C>T	p.L632F	Missense	13/18	-	1
9-32477015-G-A	c.1889C>T	p.T630I	Missense	13/18	-	1
9-32477019-T-C	c.1885A>G	p.I629V	Missense	13/18	-	1
9-32477024-T-G	c.1880A>C	p.E627A	Missense	13/18	-	1
9-32477025-C-G	c.1879G>C	p.E627Q	Missense	13/18	-	1
9-32477025-C-T	c.1879G>A	p.E627K	Missense	13/18	-	26
9-32477027-G-T	c.1877C>A	p.P626Q	Missense	13/18	-	2
9-32477031-T-C	c.1873A>G	p.N625D	Missense	13/18	-	1
9-32477048-T-C	c.1856A>G	p.Q619R	Missense	13/18	-	1
9-32477060-C-T	c.1844G>A	p.C615Y	Missense	13/18	-	1
9-32477062-G-A	c.1842C>T	p.L614=	Synonymous	13/18	-	1
9-32477072-A-T	c.1832T>A	p.L611H	Missense	13/18	-	1
9-32477073-G-T	c.1831C>A	p.L611I	Missense	13/18	-	1
9-32477075-TT-GC	c.1828_1829delinsGC	p.K610A	Missense	13/18	-	1
9-32477083-TC-T	c.1821del	p.N608Ifs*17	Frameshift	13/18	-	1
9-32477104-AAC-CTT	c.1798_1800delinsAAG	p.V600K	Missense	13/18	-	1
9-32477104-AA-CT	c.1799_1800delinsAG	p.V600E	Missense	13/18	-	13
9-32477106-C-A	c.1798G>T	p.V600F	Missense	13/18	-	1
9-32477109-T-G	c.1795A>C	p.S599R	Missense	13/18	-	1
9-32477108-CT-AG	c.1795_1796inv	p.S599L	Missense	13/18	-	1
9-32477109-T-C	c.1795A>G	p.S599G	Missense	13/18	-	1
9-32477110-T-A	c.1794A>T	p.E598D	Missense	13/18	-	1
9-32477110-T-G	c.1794A>C	p.E598D	Missense	13/18	-	1
9-32477114-A-G	c.1790T>C	p.L597P	Missense	13/18	-	1
9-32477118-C-A	c.1786G>T	p.E596*	Nonsense	13/18	-	1
9-32477125-C-T	c.1779G>A	p.K593=	Synonymous	13/18	-	1
9-32480217-C-T	c.1774G>A	p.E592K	Missense	12/18	-	1
9-32480219-T-G	c.1772A>C	p.E591A	Missense	12/18	-	1
9-32480222-A-C	c.1769T>G	p.F590C	Missense	12/18	-	1
9-32480223-A-G	c.1768T>C	p.F590L	Missense	12/18	-	1
9-32480233-AA-TT	c.1757_1758inv	p.L586Q	Missense	12/18	-	1
9-32480234-A-C	c.1757T>G	p.L586R	Missense	12/18	-	1
9-32480237-T-C	c.1754A>G	p.D585G	Missense	12/18	-	1
9-32480240-T-A	c.1751A>T	p.Q584L	Missense	12/18	-	1
9-32480246-A-G	c.1745T>C	p.I582T	Missense	12/18	-	2
9-32480246-A-T	c.1745T>A	p.I582N	Missense	12/18	-	3
9-32480248-C-T	c.1743G>A	p.E581=	Synonymous	12/18	-	1
9-32480251-A-C	c.1740T>G	p.D580E	Missense	12/18	-	7
9-32480251-A-G	c.1740T>C	p.D580=	Synonymous	12/18	-	2
9-32480251-A-T	c.1740T>A	p.D580E	Missense	12/18	-	39
9-32480253-C-A	c.1738G>T	p.D580Y	Missense	12/18	-	1
9-32480253-C-T	c.1738G>A	p.D580N	Missense	12/18	-	1
9-32480254-G-A	c.1737C>T	p.F579=	Synonymous	12/18	-	3
9-32480258-C-G	c.1733G>C	p.G578A	Missense	12/18	-	1
9-32480265-C-T	c.1726G>A	p.A576T	Missense	12/18	-	1
9-32480268-G-A	c.1723C>T	p.R575*	Nonsense	12/18	-	3
9-32480269-G-A	c.1722C>T	p.V574=	Synonymous	12/18	-	1
9-32480281-G-A	c.1710C>T	p.F570=	Synonymous	12/18	-	2
9-32480286-C-A	c.1705G>T	p.D569Y	Missense	12/18	-	1
9-32480286-C-T	c.1705G>A	p.D569N	Missense	12/18	-	2
9-32480287-T-A	c.1704A>T	p.K568N	Missense	12/18	-	1
9-32480287-T-C	c.1704A>G	p.K568=	Synonymous	12/18	-	1
9-32480287-T-G	c.1704A>C	p.K568N	Missense	12/18	-	1
9-32480288-T-C	c.1703A>G	p.K568R	Missense	12/18	-	1
9-32480291-A-T	c.1700T>A	p.L567*	Nonsense	12/18	-	1
9-32480293-G-T	c.1698C>A	p.Y566*	Nonsense	12/18	-	1
9-32480302-A-C	c.1689T>G	p.A563=	Synonymous	12/18	-	1
9-32480302-A-G	c.1689T>C	p.A563=	Synonymous	12/18	-	1
9-32480302-A-T	c.1689T>A	p.A563=	Synonymous	12/18	-	1
9-32480315-C-T	c.1676G>A	p.R559Q	Missense	12/18	-	4
9-32480316-G-A	c.1675C>T	p.R559*	Nonsense	12/18	-	1
9-32480325-C-T	c.1666G>A	p.E556K	Missense	12/18	-	1
9-32480335-G-A	c.1656C>T	p.L552=	Synonymous	12/18	-	1
9-32480337-G-C	c.1654C>G	p.L552V	Missense	12/18	-	2
9-32480337-G-T	c.1654C>A	p.L552I	Missense	12/18	-	2
9-32480338-G-A	c.1653C>T	p.A551=	Synonymous	12/18	-	1
9-32480338-G-C	c.1653C>G	p.A551=	Synonymous	12/18	-	1
9-32480338-G-T	c.1653C>A	p.A551=	Synonymous	12/18	-	1
9-32480340-C-A	c.1651G>T	p.A551S	Missense	12/18	-	1
9-32480341-A-T	c.1650T>A	p.D550E	Missense	12/18	-	1
9-32480345-T-A	c.1646A>T	p.N549I	Missense	12/18	-	1
9-32480346-T-C	c.1645A>G	p.N549D	Missense	12/18	-	1
9-32481315-G-A	c.1638+23C>T	-	IntronicSNV	-	11/17	1
9-32481315-G-T	c.1638+23C>A	-	IntronicSNV	-	11/17	1
9-32481339-C-T	c.1637G>A	p.R546Q	Missense	11/18	-	16
9-32481338-C-A	c.1638G>T	p.R546=	Synonymous	11/18	-	1
9-32481338-C-G	c.1638G>C	p.R546=	Synonymous	11/18	-	1
9-32481338-C-T	c.1638G>A	p.R546=	Synonymous	11/18	-	1
9-32481340-G-A	c.1636C>T	p.R546W	Missense	11/18	-	6
9-32481340-G-T	c.1636C>A	p.R546=	Synonymous	11/18	-	1
9-32481342-AA-GG	c.1633_1634delinsCC	p.L545P	Missense	11/18	-	1
9-32481342-A-G	c.1634T>C	p.L545S	Missense	11/18	-	1
9-32481346-G-A	c.1630C>T	p.H544Y	Missense	11/18	-	1
9-32481354-T-C	c.1622A>G	p.Y541C	Missense	11/18	-	2
9-32481355-A-G	c.1621T>C	p.Y541H	Missense	11/18	-	1
9-32481356-TAA-CAT	c.1618_1620delinsATG	p.L540M	Missense	11/18	-	1
9-32481357-A-G	c.1619T>C	p.L540S	Missense	11/18	-	3
9-32481360-AA-GC	c.1615_1616delinsGC	p.F539A	Missense	11/18	-	1
9-32481360-AA-TC	c.1615_1616delinsGA	p.F539D	Missense	11/18	-	2
9-32481364-G-T	c.1612C>A	p.L538M	Missense	11/18	-	1
9-32481365-G-A	c.1611C>T	p.A537=	Synonymous	11/18	-	1
9-32481365-G-C	c.1611C>G	p.A537=	Synonymous	11/18	-	2
9-32481365-G-T	c.1611C>A	p.A537=	Synonymous	11/18	-	1
9-32481366-G-A	c.1610C>T	p.A537V	Missense	11/18	-	1
9-32481366-G-T	c.1610C>A	p.A537D	Missense	11/18	-	1
9-32481367-C-A	c.1609G>T	p.A537S	Missense	11/18	-	1
9-32481370-T-A	c.1606A>T	p.K536*	Nonsense	11/18	-	1
9-32481374-A-C	c.1602T>G	p.I534M	Missense	11/18	-	1
9-32481375-A-G	c.1601T>C	p.I534T	Missense	11/18	-	1
9-32481378-CT-GC	c.1597_1598delinsGC	p.R533A	Missense	11/18	-	1
9-32481379-T-C	c.1597A>G	p.R533G	Missense	11/18	-	1
9-32481377-CCTG-C	c.1596_1598del	p.S532del	InFrameDeletion	11/18	-	1
9-32481381-C-T	c.1595G>A	p.S532N	Missense	11/18	-	1
9-32481381-CT-AG	c.1594_1595inv	p.S532L	Missense	11/18	-	1
9-32481382-T-A	c.1594A>T	p.S532C	Missense	11/18	-	3
9-32481382-T-G	c.1594A>C	p.S532R	Missense	11/18	-	2
9-32481388-C-A	c.1588G>T	p.E530*	Nonsense	11/18	-	1
9-32481393-T-C	c.1583A>G	p.K528R	Missense	11/18	-	1
9-32481395-G-A	c.1581C>T	p.D527=	Synonymous	11/18	-	2
9-32481400-G-A	c.1576C>T	p.P526S	Missense	11/18	-	1
9-32481402-AT-GG	c.1573_1574delinsCC	p.M525P	Missense	11/18	-	1
9-32481403-T-C	c.1573A>G	p.M525V	Missense	11/18	-	1
9-32481407-G-C	c.1569C>G	p.F523L	Missense	11/18	-	1
9-32481407-G-T	c.1569C>A	p.F523L	Missense	11/18	-	1
9-32481409-A-G	c.1567T>C	p.F523L	Missense	11/18	-	1
9-32481414-A-G	c.1562T>C	p.M521T	Missense	11/18	-	1
9-32481423-TT-GC	c.1552_1553delinsGC	p.K518A	Missense	11/18	-	1
9-32481425-C-A	c.1551G>T	p.Q517H	Missense	11/18	-	2
9-32481425-C-G	c.1551G>C	p.Q517H	Missense	11/18	-	4
9-32481427-G-T	c.1549C>A	p.Q517K	Missense	11/18	-	1
9-32481432-G-A	c.1544C>T	p.T515I	Missense	11/18	-	2
9-32481432-GT-AG	c.1543_1544delinsCT	p.T515L	Missense	11/18	-	1
9-32481433-T-C	c.1543A>G	p.T515A	Missense	11/18	-	1
9-32481435-A-G	c.1541T>C	p.V514A	Missense	11/18	-	2
9-32481441-C-A	c.1535G>T	p.W512L	Missense	11/18	-	1
9-32481443-T-A	c.1533A>T	p.Q511H	Missense	11/18	-	1
9-32481443-T-G	c.1533A>C	p.Q511H	Missense	11/18	-	1
9-32481444-TG-GC	c.1531_1532delinsGC	p.Q511A	Missense	11/18	-	2
9-32481447-T-A	c.1529A>T	p.E510V	Missense	11/18	-	4
9-32481452-T-C	c.1524A>G	p.K508=	Synonymous	11/18	-	1
9-32481453-TT-GC	c.1522_1523delinsGC	p.K508A	Missense	11/18	-	1
9-32481456-T-C	c.1520A>G	p.Q507R	Missense	11/18	-	1
9-32481456-TG-GC	c.1519_1520delinsGC	p.Q507A	Missense	11/18	-	1
9-32481459-G-T	c.1517C>A	p.T506K	Missense	11/18	-	1
9-32481470-C-A	c.1506G>T	p.R502S	Missense	11/18	-	1
9-32481470-C-G	c.1506G>C	p.R502S	Missense	11/18	-	1
9-32481474-T-G	c.1502A>C	p.N501T	Missense	11/18	-	2
9-32481475-T-A	c.1501A>T	p.N501Y	Missense	11/18	-	56
9-32481475-T-C	c.1501A>G	p.N501D	Missense	11/18	-	1
9-32481477-TG-GC	c.1498_1499delinsGC	p.Q500A	Missense	11/18	-	1
9-32481478-G-T	c.1498C>A	p.Q500K	Missense	11/18	-	2
9-32481482-T-A	c.1494A>T	p.Q498H	Missense	11/18	-	1
9-32481482-T-G	c.1494A>C	p.Q498H	Missense	11/18	-	1
9-32481483-T-C	c.1493A>G	p.Q498R	Missense	11/18	-	3
9-32481484-G-C	c.1492C>G	p.Q498E	Missense	11/18	-	1
9-32481484-G-T	c.1492C>A	p.Q498K	Missense	11/18	-	2
9-32481491-G-C	c.1485C>G	p.N495K	Missense	11/18	-	2
9-32481491-G-T	c.1485C>A	p.N495K	Missense	11/18	-	2
9-32481492-TT-GC	c.1483_1484delinsGC	p.N495A	Missense	11/18	-	1
9-32481496-C-T	c.1481-1G>A	-	IntronicSNV	-	10/17	1
9-32481498-G-T	c.1481-3C>A	-	IntronicSNV	-	10/17	1
9-32484683-G-A	c.1480+490C>T	-	IntronicSNV	-	10/17	1
9-32484826-A-G	c.1480+347T>C	-	IntronicSNV	-	10/17	1
9-32485097-A-T	c.1480+76T>A	-	IntronicSNV	-	10/17	1
9-32485142-G-T	c.1480+31C>A	-	IntronicSNV	-	10/17	1
9-32485166-A-C	c.1480+7T>G	-	IntronicSNV	-	10/17	1
9-32485173-C-T	c.1480G>A	p.E494K	Missense	10/18	-	1
9-32485180-T-C	c.1473A>G	p.K491=	Synonymous	10/18	-	1
9-32485182-T-G	c.1471A>C	p.K491Q	Missense	10/18	-	2
9-32485184-CA-GC	c.1468_1469delinsGC	p.C490A	Missense	10/18	-	1
9-32485187-A-G	c.1466T>C	p.I489T	Missense	10/18	-	1
9-32485188-T-C	c.1465A>G	p.I489V	Missense	10/18	-	1
9-32485190-CT-TC	c.1462_1463delinsGA	p.R488E	Missense	10/18	-	1
9-32485192-C-A	c.1461G>T	p.K487N	Missense	10/18	-	2
9-32485192-C-G	c.1461G>C	p.K487N	Missense	10/18	-	2
9-32485194-T-G	c.1459A>C	p.K487Q	Missense	10/18	-	1
9-32485197-C-G	c.1456G>C	p.A486P	Missense	10/18	-	1
9-32485197-C-T	c.1456G>A	p.A486T	Missense	10/18	-	1
9-32485204-C-G	c.1449G>C	p.E483D	Missense	10/18	-	1
9-32485206-C-A	c.1447G>T	p.E483*	Nonsense	10/18	-	1
9-32485206-C-G	c.1447G>C	p.E483Q	Missense	10/18	-	1
9-32485206-C-T	c.1447G>A	p.E483K	Missense	10/18	-	1
9-32485207-TGT-ACA	c.1444_1446inv	p.T482C	Missense	10/18	-	1
9-32485208-G-A	c.1445C>T	p.T482I	Missense	10/18	-	1
9-32485212-C-T	c.1441G>A	p.D481N	Missense	10/18	-	1
9-32485213-C-G	c.1440G>C	p.R480S	Missense	10/18	-	1
9-32485226-G-C	c.1427C>G	p.A476G	Missense	10/18	-	1
9-32485231-G-A	c.1422C>T	p.I474=	Synonymous	10/18	-	1
9-32485235-T-A	c.1418A>T	p.Y473F	Missense	10/18	-	1
9-32485235-T-C	c.1418A>G	p.Y473C	Missense	10/18	-	2
9-32485241-A-T	c.1412T>A	p.F471Y	Missense	10/18	-	1
9-32485248-C-A	c.1405G>T	p.D469Y	Missense	10/18	-	1
9-32485249-G-C	c.1404C>G	p.S468R	Missense	10/18	-	1
9-32485250-CT-GC	c.1402_1403delinsGC	p.S468A	Missense	10/18	-	1
9-32485250-CT-GG	c.1402_1403delinsCC	p.S468P	Missense	10/18	-	1
9-32485254-T-C	c.1399A>G	p.I467V	Missense	10/18	-	1
9-32485256-C-T	c.1397G>A	p.R466Q	Missense	10/18	-	1
9-32485257-G-A	c.1396C>T	p.R466W	Missense	10/18	-	4
9-32485258-T-C	c.1395A>G	p.S465=	Synonymous	10/18	-	1
9-32485260-A-T	c.1393T>A	p.S465T	Missense	10/18	-	1
9-32485264-C-A	c.1389G>T	p.V463=	Synonymous	10/18	-	1
9-32485270-C-A	c.1383G>T	p.R461S	Missense	10/18	-	1
9-32485270-C-G	c.1383G>C	p.R461S	Missense	10/18	-	1
9-32485272-T-G	c.1381A>C	p.R461=	Synonymous	10/18	-	1
9-32485280-A-G	c.1376-3T>C	-	IntronicSNV	-	9/17	2
9-32485286-G-A	c.1376-9C>T	-	IntronicSNV	-	9/17	1
9-32487469-A-G	c.1375T>C	p.F459L	Missense	9/18	-	1
9-32487470-C-T	c.1374G>A	p.K458=	Synonymous	9/18	-	1
9-32487473-C-T	c.1371G>A	p.Q457=	Synonymous	9/18	-	2
9-32487474-TG-GC	c.1369_1370delinsGC	p.Q457A	Missense	9/18	-	1
9-32487477-G-A	c.1367C>T	p.P456L	Missense	9/18	-	1
9-32487478-G-A	c.1366C>T	p.P456S	Missense	9/18	-	1
9-32487479-C-T	c.1365G>A	p.K455=	Synonymous	9/18	-	1
9-32487483-TA-GC	c.1360_1361delinsGC	p.Y454A	Missense	9/18	-	1
9-32487484-A-T	c.1360T>A	p.Y454N	Missense	9/18	-	1
9-32487489-ACTTG-A	c.1351_1354del	p.Q451Lfs*24	Frameshift	9/18	-	1
9-32487509-A-C	c.1335T>G	p.N445K	Missense	9/18	-	1
9-32487509-A-T	c.1335T>A	p.N445K	Missense	9/18	-	1
9-32487510-TTG-T	c.1332_1333del	p.H444Qfs*11	Frameshift	9/18	-	1
9-32487514-G-A	c.1330C>T	p.H444Y	Missense	9/18	-	1
9-32487514-G-T	c.1330C>A	p.H444N	Missense	9/18	-	1
9-32487515-T-A	c.1329A>T	p.K443N	Missense	9/18	-	1
9-32487516-T-C	c.1328A>G	p.K443R	Missense	9/18	-	3
9-32487518-GAC-CAT	c.1324_1326delinsATG	p.V442M	Missense	9/18	-	1
9-32487516-TTGAC-T	c.1324_1327del	p.V442Nfs*33	Frameshift	9/18	-	1
9-32487520-C-T	c.1324G>A	p.V442I	Missense	9/18	-	1
9-32487521-T-A	c.1323A>T	p.T441=	Synonymous	9/18	-	1
9-32487521-T-C	c.1323A>G	p.T441=	Synonymous	9/18	-	4
9-32487521-T-G	c.1323A>C	p.T441=	Synonymous	9/18	-	1
9-32487522-G-A	c.1322C>T	p.T441I	Missense	9/18	-	1
9-32487530-CAC-GAT	c.1312_1314delinsATC	p.V438I	Missense	9/18	-	1
9-32487531-A-G	c.1313T>C	p.V438A	Missense	9/18	-	4
9-32487534-G-A	c.1310C>T	p.S437L	Missense	9/18	-	1
9-32487536-C-T	c.1308G>A	p.A436=	Synonymous	9/18	-	2
9-32487537-G-A	c.1307C>T	p.A436V	Missense	9/18	-	3
9-32487552-C-G	c.1292G>C	p.C431S	Missense	9/18	-	2
9-32487553-A-T	c.1291T>A	p.C431S	Missense	9/18	-	2
9-32487555-AG-TA	c.1288_1289delinsTA	p.L430*	Nonsense	9/18	-	1
9-32487573-A-G	c.1271T>C	p.L424S	Missense	9/18	-	1
9-32487576-G-C	c.1268C>G	p.A423G	Missense	9/18	-	1
9-32487584-TGT-ACA	c.1258_1260inv	p.T420C	Missense	9/18	-	1
9-32487586-T-C	c.1258A>G	p.T420A	Missense	9/18	-	1
9-32487591-T-G	c.1253A>C	p.K418T	Missense	9/18	-	1
9-32487587-GT-G	c.1256del	p.N419Tfs*20	Frameshift	9/18	-	1
9-32487600-C-A	c.1244G>T	p.G415V	Missense	9/18	-	1
9-32487600-C-G	c.1244G>C	p.G415A	Missense	9/18	-	1
9-32487600-C-T	c.1244G>A	p.G415E	Missense	9/18	-	1
9-32487607-C-A	c.1237G>T	p.G413C	Missense	9/18	-	1
9-32487607-C-T	c.1237G>A	p.G413S	Missense	9/18	-	1
9-32487612-G-A	c.1232C>T	p.S411L	Missense	9/18	-	8
9-32487613-A-C	c.1231T>G	p.S411A	Missense	9/18	-	1
9-32487616-C-T	c.1228G>A	p.A410T	Missense	9/18	-	1
9-32487618-G-C	c.1226C>G	p.T409S	Missense	9/18	-	1
9-32487619-T-A	c.1225A>T	p.T409S	Missense	9/18	-	1
9-32487619-T-C	c.1225A>G	p.T409A	Missense	9/18	-	3
9-32487624-C-G	c.1220G>C	p.G407A	Missense	9/18	-	1
9-32487625-C-A	c.1219G>T	p.G407W	Missense	9/18	-	3
9-32487625-C-G	c.1219G>C	p.G407R	Missense	9/18	-	2
9-32487625-C-T	c.1219G>A	p.G407R	Missense	9/18	-	2
9-32487627-A-G	c.1217T>C	p.I406T	Missense	9/18	-	5
9-32487908-G-C	c.1212+35C>G	-	IntronicSNV	-	8/17	1
9-32487941-A-G	c.1212+2T>C	-	IntronicSNV	-	8/17	1
9-32487949-C-A	c.1206G>T	p.L402=	Synonymous	8/18	-	2
9-32487949-CAG-AAA	c.1204_1206delinsTTT	p.L402F	Missense	8/18	-	1
9-32487949-C-G	c.1206G>C	p.L402=	Synonymous	8/18	-	2
9-32487949-C-T	c.1206G>A	p.L402=	Synonymous	8/18	-	2
9-32487951-G-A	c.1204C>T	p.L402=	Synonymous	8/18	-	3
9-32487965-C-G	c.1190G>C	p.G397A	Missense	8/18	-	1
9-32487971-A-C	c.1184T>G	p.L395R	Missense	8/18	-	1
9-32487974-TT-GC	c.1180_1181delinsGC	p.K394A	Missense	8/18	-	1
9-32487975-T-C	c.1180A>G	p.K394E	Missense	8/18	-	3
9-32487981-C-T	c.1174G>A	p.D392N	Missense	8/18	-	1
9-32487982-T-A	c.1173A>T	p.L391=	Synonymous	8/18	-	1
9-32487982-T-C	c.1173A>G	p.L391=	Synonymous	8/18	-	1
9-32487982-T-G	c.1173A>C	p.L391=	Synonymous	8/18	-	1
9-32487984-G-A	c.1171C>T	p.L391=	Synonymous	8/18	-	1
9-32487983-A-T	c.1172T>A	p.L391Q	Missense	8/18	-	1
9-32487984-G-C	c.1171C>G	p.L391V	Missense	8/18	-	4
9-32487986-TA-GC	c.1168_1169delinsGC	p.Y390A	Missense	8/18	-	1
9-32487988-A-C	c.1167T>G	p.N389K	Missense	8/18	-	2
9-32487988-A-T	c.1167T>A	p.N389K	Missense	8/18	-	2
9-32487991-A-C	c.1164T>G	p.F388L	Missense	8/18	-	1
9-32488000-C-A	c.1155G>T	p.M385I	Missense	8/18	-	1
9-32488000-C-G	c.1155G>C	p.M385I	Missense	8/18	-	1
9-32488000-C-T	c.1155G>A	p.M385I	Missense	8/18	-	1
9-32488005-T-G	c.1150A>C	p.N384H	Missense	8/18	-	1
9-32488009-C-A	c.1146G>T	p.P382=	Synonymous	8/18	-	1
9-32488009-C-G	c.1146G>C	p.P382=	Synonymous	8/18	-	1
9-32488009-C-T	c.1146G>A	p.P382=	Synonymous	8/18	-	2
9-32488011-G-A	c.1144C>T	p.P382S	Missense	8/18	-	5
9-32488015-TTG-GTT	c.1138_1140delinsAAC	p.Q380N	Missense	8/18	-	1
9-32488016-T-G	c.1139A>C	p.Q380P	Missense	8/18	-	1
9-32488022-CT-AA	c.1132_1133delinsTT	p.S378F	Missense	8/18	-	1
9-32488027-G-A	c.1128C>T	p.N376=	Synonymous	8/18	-	1
9-32488028-TT-GC	c.1126_1127delinsGC	p.N376A	Missense	8/18	-	1
9-32488032-G-A	c.1123C>T	p.H375Y	Missense	8/18	-	1
9-32488036-T-G	c.1119A>C	p.E373D	Missense	8/18	-	2
9-32488037-T-G	c.1118A>C	p.E373A	Missense	8/18	-	21
9-32488038-C-G	c.1117G>C	p.E373Q	Missense	8/18	-	10
9-32488038-C-T	c.1117G>A	p.E373K	Missense	8/18	-	1
9-32488040-T-G	c.1115A>C	p.D372A	Missense	8/18	-	1
9-32488041-C-T	c.1114G>A	p.D372N	Missense	8/18	-	2
9-32488046-A-G	c.1109T>C	p.I370T	Missense	8/18	-	1
9-32488050-T-C	c.1105A>G	p.M369V	Missense	8/18	-	1
9-32488051-C-A	c.1104G>T	p.L368F	Missense	8/18	-	1
9-32488054-AG-CT	c.1100_1101inv	p.T367K	Missense	8/18	-	1
9-32488064-GA-TC	c.1090_1091inv	p.S364D	Missense	8/18	-	1
9-32488065-A-C	c.1090T>G	p.S364A	Missense	8/18	-	1
9-32488074-G-A	c.1081C>T	p.P361S	Missense	8/18	-	1
9-32488079-G-A	c.1076C>T	p.T359M	Missense	8/18	-	5
9-32488088-T-C	c.1067A>G	p.K356R	Missense	8/18	-	1
9-32488091-A-G	c.1064T>C	p.L355P	Missense	8/18	-	1
9-32488092-G-A	c.1063C>T	p.L355F	Missense	8/18	-	1
9-32488092-G-T	c.1063C>A	p.L355I	Missense	8/18	-	1
9-32488093-G-C	c.1062C>G	p.N354K	Missense	8/18	-	1
9-32488093-G-T	c.1062C>A	p.N354K	Missense	8/18	-	3
9-32488095-T-C	c.1060A>G	p.N354D	Missense	8/18	-	1
9-32488096-G-A	c.1059C>T	p.N353=	Synonymous	8/18	-	3
9-32488103-A-G	c.1052T>C	p.L351P	Missense	8/18	-	1
9-32488104-G-T	c.1051C>A	p.L351I	Missense	8/18	-	1
9-32488106-A-T	c.1049T>A	p.I350N	Missense	8/18	-	1
9-32488107-T-C	c.1048A>G	p.I350V	Missense	8/18	-	1
9-32488108-C-A	c.1047G>T	p.Q349H	Missense	8/18	-	1
9-32488108-C-G	c.1047G>C	p.Q349H	Missense	8/18	-	1
9-32488113-G-A	c.1042C>T	p.P348S	Missense	8/18	-	2
9-32488116-T-C	c.1039A>G	p.T347A	Missense	8/18	-	2
9-32488124-A-G	c.1031T>C	p.I344T	Missense	8/18	-	1
9-32488127-A-G	c.1028T>C	p.I343T	Missense	8/18	-	1
9-32488130-T-A	c.1025A>T	p.D342V	Missense	8/18	-	1
9-32488130-T-G	c.1025A>C	p.D342A	Missense	8/18	-	1
9-32488132-A-G	c.1023T>C	p.N341=	Synonymous	8/18	-	1
9-32488134-T-A	c.1021A>T	p.N341Y	Missense	8/18	-	1
9-32488138-C-A	c.1017G>T	p.E339D	Missense	8/18	-	2
9-32488138-C-G	c.1017G>C	p.E339D	Missense	8/18	-	2
9-32488140-C-G	c.1015G>C	p.E339Q	Missense	8/18	-	1
9-32488143-C-T	c.1012G>A	p.V338I	Missense	8/18	-	1
9-32488157-G-A	c.998C>T	p.P333L	Missense	8/18	-	1
9-32488166-T-C	c.989A>G	p.E330G	Missense	8/18	-	1
9-32488167-C-G	c.988G>C	p.E330Q	Missense	8/18	-	1
9-32488168-AG-CT	c.986_987inv	p.A329E	Missense	8/18	-	1
9-32488169-G-C	c.986C>G	p.A329G	Missense	8/18	-	1
9-32488171-T-G	c.984A>C	p.T328=	Synonymous	8/18	-	1
9-32488172-G-A	c.983C>T	p.T328I	Missense	8/18	-	1
9-32488176-C-A	c.979G>T	p.A327S	Missense	8/18	-	1
9-32488176-C-T	c.979G>A	p.A327T	Missense	8/18	-	1
9-32488177-TCC-GTT	c.976_978delinsAAC	p.G326N	Missense	8/18	-	1
9-32488178-C-A	c.977G>T	p.G326V	Missense	8/18	-	1
9-32488184-A-G	c.971T>C	p.I324T	Missense	8/18	-	1
9-32488185-T-C	c.970A>G	p.I324V	Missense	8/18	-	1
9-32488196-C-G	c.959G>C	p.R320T	Missense	8/18	-	1
9-32488199-T-A	c.956A>T	p.Y319F	Missense	8/18	-	1
9-32488199-TA-GC	c.955_956delinsGC	p.Y319A	Missense	8/18	-	1
9-32488199-T-C	c.956A>G	p.Y319C	Missense	8/18	-	1
9-32488201-C-T	c.954G>A	p.G318=	Synonymous	8/18	-	2
9-32488225-A-G	c.954-24T>C	-	IntronicSNV	-	7/17	1
9-32488237-G-A	c.954-36C>T	-	IntronicSNV	-	7/17	6
9-32488237-G-C	c.954-36C>G	-	IntronicSNV	-	7/17	6
9-32488421-A-G	c.954-220T>C	-	IntronicSNV	-	7/17	1
9-32488559-T-A	c.953+173A>T	-	IntronicSNV	-	7/17	5
9-32488559-T-C	c.953+173A>G	-	IntronicSNV	-	7/17	4
9-32488624-G-A	c.953+108C>T	-	IntronicSNV	-	7/17	1
9-32488732-C-G	c.953G>C	p.G318A	Missense	7/18	-	1
9-32488738-C-A	c.947G>T	p.R316I	Missense	7/18	-	3
9-32488738-C-T	c.947G>A	p.R316K	Missense	7/18	-	1
9-32488742-C-T	c.943G>A	p.E315K	Missense	7/18	-	2
9-32488743-A-C	c.942T>G	p.F314L	Missense	7/18	-	1
9-32488743-A-T	c.942T>A	p.F314L	Missense	7/18	-	1
9-32488745-A-G	c.940T>C	p.F314L	Missense	7/18	-	1
9-32488749-T-C	c.936A>G	p.K312=	Synonymous	7/18	-	1
9-32488755-GA-G	c.929del	p.F310Sfs*37	Frameshift	7/18	-	1
9-32488763-A-T	c.922T>A	p.S308T	Missense	7/18	-	1
9-32488764-T-C	c.921A>G	p.K307=	Synonymous	7/18	-	1
9-32488763-ATTTCTGCTGTTCATACACTGGGATCTGATTCGCAAAAAAGACAAC-A	c.877_921del	p.V293_K307del	InFrameDeletion	7/18	-	1
9-32488775-C-A	c.910G>T	p.E304*	Nonsense	7/18	-	1
9-32488775-C-CA	c.909dup	p.E304*	Nonsense	7/18	-	1
9-32488778-A-G	c.907T>C	p.Y303H	Missense	7/18	-	1
9-32488783-G-A	c.902C>T	p.P301L	Missense	7/18	-	3
9-32488784-G-A	c.901C>T	p.P301S	Missense	7/18	-	3
9-32488786-A-T	c.899T>A	p.I300N	Missense	7/18	-	1
9-32488788-C-A	c.897G>T	p.Q299H	Missense	7/18	-	1
9-32488788-C-G	c.897G>C	p.Q299H	Missense	7/18	-	1
9-32488789-TG-GC	c.895_896delinsGC	p.Q299A	Missense	7/18	-	2
9-32488794-C-A	c.891G>T	p.A297=	Synonymous	7/18	-	1
9-32488794-C-T	c.891G>A	p.A297=	Synonymous	7/18	-	1
9-32488796-C-CA	c.888dup	p.A297Cfs*8	Frameshift	7/18	-	2
9-32488800-A-C	c.885T>G	p.F295L	Missense	7/18	-	1
9-32488800-A-T	c.885T>A	p.F295L	Missense	7/18	-	1
9-32488802-A-G	c.883T>C	p.F295L	Missense	7/18	-	2
9-32488804-A-T	c.881T>A	p.V294D	Missense	7/18	-	1
9-32488805-C-G	c.880G>C	p.V294L	Missense	7/18	-	1
9-32488807-A-G	c.878T>C	p.V293A	Missense	7/18	-	1
9-32488809-T-C	c.876A>G	p.K292=	Synonymous	7/18	-	1
9-32488810-T-C	c.875A>G	p.K292R	Missense	7/18	-	1
9-32488812-C-A	c.873G>T	p.G291=	Synonymous	7/18	-	1
9-32488812-C-G	c.873G>C	p.G291=	Synonymous	7/18	-	1
9-32488812-C-T	c.873G>A	p.G291=	Synonymous	7/18	-	1
9-32488813-C-G	c.872G>C	p.G291A	Missense	7/18	-	1
9-32488816-TT-GC	c.868_869delinsGC	p.K290A	Missense	7/18	-	1
9-32488818-T-A	c.867A>T	p.Q289H	Missense	7/18	-	1
9-32488815-CT-C	c.869del	p.K290Rfs*57	Frameshift	7/18	-	1
9-32488824-T-C	c.861A>G	p.Q287=	Synonymous	7/18	-	1
9-32488828-G-T	c.857C>A	p.P286Q	Missense	7/18	-	1
9-32488833-T-C	c.852A>G	p.K284=	Synonymous	7/18	-	1
9-32488837-T-C	c.848A>G	p.K283R	Missense	7/18	-	1
9-32488837-TT-GC	c.847_848delinsGC	p.K283A	Missense	7/18	-	1
9-32488832-AT-A	c.852del	p.K284Nfs*63	Frameshift	7/18	-	4
9-32488838-T-A	c.847A>T	p.K283*	Nonsense	7/18	-	1
9-32488847-G-A	c.838C>T	p.H280Y	Missense	7/18	-	1
9-32488847-G-T	c.838C>A	p.H280N	Missense	7/18	-	1
9-32488850-C-T	c.835G>A	p.E279K	Missense	7/18	-	2
9-32488852-CA-GT	c.832_833delinsAC	p.C278T	Missense	7/18	-	1
9-32488854-T-C	c.831A>G	p.I277M	Missense	7/18	-	1
9-32488855-A-C	c.830T>G	p.I277R	Missense	7/18	-	1
9-32488857-A-C	c.828T>G	p.L276=	Synonymous	7/18	-	1
9-32488857-A-G	c.828T>C	p.L276=	Synonymous	7/18	-	1
9-32488857-A-T	c.828T>A	p.L276=	Synonymous	7/18	-	1
9-32488864-G-A	c.821C>T	p.S274L	Missense	7/18	-	3
9-32488876-T-A	c.809A>T	p.K270I	Missense	7/18	-	2
9-32488876-T-C	c.809A>G	p.K270R	Missense	7/18	-	1
9-32488876-TT-GC	c.808_809delinsGC	p.K270A	Missense	7/18	-	35
9-32488877-T-A	c.808A>T	p.K270*	Nonsense	7/18	-	1
9-32488878-T-A	c.807A>T	p.G269=	Synonymous	7/18	-	3
9-32488878-T-C	c.807A>G	p.G269=	Synonymous	7/18	-	1
9-32488878-T-G	c.807A>C	p.G269=	Synonymous	7/18	-	1
9-32488879-C-T	c.806G>A	p.G269E	Missense	7/18	-	1
9-32488880-C-G	c.805G>C	p.G269R	Missense	7/18	-	1
9-32488880-C-T	c.805G>A	p.G269R	Missense	7/18	-	1
9-32488881-A-G	c.804T>C	p.C268=	Synonymous	7/18	-	1
9-32488882-C-A	c.803G>T	p.C268F	Missense	7/18	-	20
9-32489344-G-T	c.797C>A	p.T266K	Missense	6/18	-	1
9-32489346-A-C	c.795T>G	p.P265=	Synonymous	6/18	-	1
9-32489346-A-G	c.795T>C	p.P265=	Synonymous	6/18	-	1
9-32489346-A-T	c.795T>A	p.P265=	Synonymous	6/18	-	1
9-32489349-A-C	c.792T>G	p.A264=	Synonymous	6/18	-	1
9-32489349-A-G	c.792T>C	p.A264=	Synonymous	6/18	-	1
9-32489349-A-T	c.792T>A	p.A264=	Synonymous	6/18	-	1
9-32489351-C-A	c.790G>T	p.A264S	Missense	6/18	-	2
9-32489355-T-A	c.786A>T	p.I262=	Synonymous	6/18	-	1
9-32489355-T-G	c.786A>C	p.I262=	Synonymous	6/18	-	1
9-32489356-AT-GC	c.784_785delinsGC	p.I262A	Missense	6/18	-	1
9-32489360-T-C	c.781A>G	p.I261V	Missense	6/18	-	2
9-32489362-G-A	c.779C>T	p.T260I	Missense	6/18	-	2
9-32489363-T-G	c.778A>C	p.T260P	Missense	6/18	-	3
9-32489365-T-G	c.776A>C	p.N259T	Missense	6/18	-	1
9-32489368-T-C	c.773A>G	p.K258R	Missense	6/18	-	1
9-32489364-G-GT	c.776dup	p.N259Kfs*21	Frameshift	6/18	-	1
9-32489372-C-T	c.769G>A	p.G257R	Missense	6/18	-	1
9-32489373-T-C	c.768A>G	p.K256=	Synonymous	6/18	-	1
9-32489375-T-C	c.766A>G	p.K256E	Missense	6/18	-	1
9-32489378-T-C	c.763A>G	p.M255V	Missense	6/18	-	2
9-32489380-G-A	c.761C>T	p.A254V	Missense	6/18	-	1
9-32489386-AA-GG	c.754_755delinsCC	p.L252P	Missense	6/18	-	1
9-32489387-A-C	c.754T>G	p.L252V	Missense	6/18	-	1
9-32489394-C-T	c.747G>A	p.E249=	Synonymous	6/18	-	1
9-32489397-TAA-CAT	c.742_744delinsATG	p.L248M	Missense	6/18	-	1
9-32489399-A-T	c.742T>A	p.L248I	Missense	6/18	-	1
9-32489400-T-A	c.741A>T	p.Q247H	Missense	6/18	-	1
9-32489400-T-G	c.741A>C	p.Q247H	Missense	6/18	-	1
9-32489401-TG-GC	c.739_740delinsGC	p.Q247A	Missense	6/18	-	2
9-32489405-A-C	c.736T>G	p.Y246D	Missense	6/18	-	1
9-32489406-A-C	c.735T>G	p.N245K	Missense	6/18	-	1
9-32489406-A-T	c.735T>A	p.N245K	Missense	6/18	-	1
9-32489407-T-C	c.734A>G	p.N245S	Missense	6/18	-	2
9-32489408-T-G	c.733A>C	p.N245H	Missense	6/18	-	1
9-32489410-C-A	c.731G>T	p.R244I	Missense	6/18	-	7
9-32489410-C-T	c.731G>A	p.R244K	Missense	6/18	-	3
9-32489410-CT-GC	c.730_731delinsGC	p.R244A	Missense	6/18	-	1
9-32489410-CT-TC	c.730_731delinsGA	p.R244E	Missense	6/18	-	1
9-32489413-G-C	c.728C>G	p.P243R	Missense	6/18	-	2
9-32489415-T-A	c.726A>T	p.K242N	Missense	6/18	-	1
9-32489415-T-G	c.726A>C	p.K242N	Missense	6/18	-	1
9-32489416-T-C	c.725A>G	p.K242R	Missense	6/18	-	1
9-32489424-GCT-TCA	c.715_717delinsTGA	p.S239*	Nonsense	6/18	-	1
9-32489425-C-G	c.716G>C	p.S239T	Missense	6/18	-	1
9-32489425-C-T	c.716G>A	p.S239N	Missense	6/18	-	2
9-32489427-G-C	c.714C>G	p.Y238*	Nonsense	6/18	-	1
9-32489427-G-T	c.714C>A	p.Y238*	Nonsense	6/18	-	1
9-32489435-T-A	c.706A>T	p.N236Y	Missense	6/18	-	2
9-32489439-A-T	c.702T>A	p.D234E	Missense	6/18	-	1
9-32489440-T-G	c.701A>C	p.D234A	Missense	6/18	-	1
9-32489442-A-G	c.699T>C	p.S233=	Synonymous	6/18	-	1
9-32489447-C-A	c.694G>T	p.V232L	Missense	6/18	-	1
9-32490455-GT-G	c.691+843del	-	IntronicDeletion	-	5/17	1
9-32491060-T-C	c.691+239A>G	-	IntronicSNV	-	5/17	1
9-32491240-C-T	c.691+59G>A	-	IntronicSNV	-	5/17	11
9-32491261-G-A	c.691+38C>T	-	IntronicSNV	-	5/17	1
9-32491299-C-T	c.691G>A	p.E231K	Missense	5/18	-	1
9-32491300-TGA-GTT	c.688_690delinsAAC	p.S230N	Missense	5/18	-	1
9-32491301-G-A	c.689C>T	p.S230L	Missense	5/18	-	2
9-32491301-GA-CC	c.688_689delinsGG	p.S230G	Missense	5/18	-	1
9-32491301-G-GA	c.688dup	p.S230Ffs*5	Frameshift	5/18	-	4
9-32491309-A-G	c.681T>C	p.C227=	Synonymous	5/18	-	1
9-32491310-CA-GT	c.679_680delinsAC	p.C227T	Missense	5/18	-	1
9-32491313-G-A	c.677C>T	p.S226L	Missense	5/18	-	1
9-32491313-GA-CT	c.676_677delinsAG	p.S226R	Missense	5/18	-	1
9-32491315-A-C	c.675T>G	p.N225K	Missense	5/18	-	1
9-32491315-A-T	c.675T>A	p.N225K	Missense	5/18	-	1
9-32491317-T-C	c.673A>G	p.N225D	Missense	5/18	-	1
9-32491320-C-T	c.670G>A	p.E224K	Missense	5/18	-	2
9-32491321-A-C	c.669T>G	p.S223R	Missense	5/18	-	2
9-32491321-A-G	c.669T>C	p.S223=	Synonymous	5/18	-	1
9-32491321-A-T	c.669T>A	p.S223R	Missense	5/18	-	2
9-32491323-T-G	c.667A>C	p.S223R	Missense	5/18	-	2
9-32491322-CT-GC	c.667_668delinsGC	p.S223A	Missense	5/18	-	1
9-32491323-T-C	c.667A>G	p.S223G	Missense	5/18	-	1
9-32491325-A-C	c.665T>G	p.L222R	Missense	5/18	-	1
9-32491325-AG-GC	c.664_665delinsGC	p.L222A	Missense	5/18	-	1
9-32491328-T-C	c.662A>G	p.N221S	Missense	5/18	-	1
9-32491334-C-A	c.656G>T	p.C219F	Missense	5/18	-	1
9-32491337-T-G	c.653A>C	p.E218A	Missense	5/18	-	12
9-32491341-G-A	c.649C>T	p.P217S	Missense	5/18	-	2
9-32491341-G-C	c.649C>G	p.P217A	Missense	5/18	-	1
9-32491352-TA-GG	c.637_638delinsCC	p.Y213P	Missense	5/18	-	1
9-32491359-T-C	c.631A>G	p.I211V	Missense	5/18	-	1
9-32491365-T-C	c.625A>G	p.I209V	Missense	5/18	-	1
9-32491367-T-G	c.623A>C	p.D208A	Missense	5/18	-	2
9-32491370-G-C	c.620C>G	p.S207C	Missense	5/18	-	1
9-32491370-G-T	c.620C>A	p.S207Y	Missense	5/18	-	1
9-32491371-A-C	c.619T>G	p.S207A	Missense	5/18	-	1
9-32491372-A-C	c.618T>G	p.T206=	Synonymous	5/18	-	1
9-32491376-T-G	c.614A>C	p.E205A	Missense	5/18	-	1
9-32491378-C-A	c.612G>T	p.M204I	Missense	5/18	-	2
9-32491378-C-G	c.612G>C	p.M204I	Missense	5/18	-	2
9-32491378-C-T	c.612G>A	p.M204I	Missense	5/18	-	3
9-32491379-A-G	c.611T>C	p.M204T	Missense	5/18	-	1
9-32491380-T-C	c.610A>G	p.M204V	Missense	5/18	-	2
9-32491384-A-G	c.606T>C	p.D202=	Synonymous	5/18	-	4
9-32491385-T-A	c.605A>T	p.D202V	Missense	5/18	-	1
9-32491385-T-G	c.605A>C	p.D202A	Missense	5/18	-	2
9-32491392-G-A	c.598C>T	p.L200F	Missense	5/18	-	2
9-32491395-C-A	c.595G>T	p.D199Y	Missense	5/18	-	1
9-32491398-C-T	c.592G>A	p.E198K	Missense	5/18	-	1
9-32491400-G-T	c.590C>A	p.T197K	Missense	5/18	-	1
9-32491400-GT-TC	c.589_590delinsGA	p.T197E	Missense	5/18	-	1
9-32491401-T-C	c.589A>G	p.T197A	Missense	5/18	-	1
9-32491408-A-C	c.582T>G	p.D194E	Missense	5/18	-	1
9-32491408-A-T	c.582T>A	p.D194E	Missense	5/18	-	1
9-32491411-T-C	c.579A>G	p.K193=	Synonymous	5/18	-	1
9-32491412-T-C	c.578A>G	p.K193R	Missense	5/18	-	3
9-32491422-T-C	c.572-4A>G	-	IntronicSNV	-	4/17	1
9-32492268-G-T	c.571+121C>A	-	IntronicSNV	-	4/17	1
9-32492340-G-A	c.571+49C>T	-	IntronicSNV	-	4/17	1
9-32492352-T-A	c.571+37A>T	-	IntronicSNV	-	4/17	1
9-32492352-T-C	c.571+37A>G	-	IntronicSNV	-	4/17	1
9-32492388-C-T	c.571+1G>A	-	IntronicSNV	-	4/17	1
9-32492390-T-A	c.570A>T	p.K190N	Missense	4/18	-	1
9-32492390-T-C	c.570A>G	p.K190=	Synonymous	4/18	-	1
9-32492390-T-G	c.570A>C	p.K190N	Missense	4/18	-	1
9-32492391-T-C	c.569A>G	p.K190R	Missense	4/18	-	2
9-32492394-T-G	c.566A>C	p.E189A	Missense	4/18	-	1
9-32492397-A-G	c.563T>C	p.V188A	Missense	4/18	-	3
9-32492400-A-AT	c.559dup	p.I187Nfs*10	Frameshift	4/18	-	1
9-32492401-T-C	c.559A>G	p.I187V	Missense	4/18	-	2
9-32492405-C-A	c.555G>T	p.L185=	Synonymous	4/18	-	2
9-32492405-C-G	c.555G>C	p.L185=	Synonymous	4/18	-	2
9-32492405-C-T	c.555G>A	p.L185=	Synonymous	4/18	-	2
9-32492407-G-A	c.553C>T	p.L185=	Synonymous	4/18	-	3
9-32492406-AG-TC	c.553_554delinsGA	p.L185E	Missense	4/18	-	1
9-32492407-G-T	c.553C>A	p.L185M	Missense	4/18	-	2
9-32492408-T-A	c.552A>T	p.E184D	Missense	4/18	-	1
9-32492410-C-T	c.550G>A	p.E184K	Missense	4/18	-	1
9-32492412-C-A	c.548G>T	p.S183I	Missense	4/18	-	15
9-32492414-G-C	c.546C>G	p.F182L	Missense	4/18	-	1
9-32492414-G-T	c.546C>A	p.F182L	Missense	4/18	-	1
9-32492416-A-G	c.544T>C	p.F182L	Missense	4/18	-	1
9-32492417-C-T	c.543G>A	p.K181=	Synonymous	4/18	-	1
9-32492418-T-C	c.542A>G	p.K181R	Missense	4/18	-	2
9-32492421-T-C	c.539A>G	p.N180S	Missense	4/18	-	1
9-32492423-C-T	c.537G>A	p.R179=	Synonymous	4/18	-	1
9-32492424-CT-TG	c.535_536delinsCA	p.R179Q	Missense	4/18	-	1
9-32492427-TC-CT	c.532_533delinsAG	p.E178R	Missense	4/18	-	1
9-32492430-T-C	c.530A>G	p.K177R	Missense	4/18	-	1
9-32492430-TT-GC	c.529_530delinsGC	p.K177A	Missense	4/18	-	1
9-32492432-C-A	c.528G>T	p.E176D	Missense	4/18	-	1
9-32492432-C-G	c.528G>C	p.E176D	Missense	4/18	-	1
9-32492434-C-G	c.526G>C	p.E176Q	Missense	4/18	-	1
9-32492440-C-T	c.520G>A	p.A174T	Missense	4/18	-	2
9-32492443-G-T	c.517C>A	p.L173I	Missense	4/18	-	1
9-32492444-T-C	c.516A>G	p.K172=	Synonymous	4/18	-	1
9-32492445-T-C	c.515A>G	p.K172R	Missense	4/18	-	23
9-32492445-TT-GC	c.514_515delinsGC	p.K172A	Missense	4/18	-	2
9-32492446-T-A	c.514A>T	p.K172*	Nonsense	4/18	-	1
9-32492446-T-C	c.514A>G	p.K172E	Missense	4/18	-	1
9-32492450-AG-CC	c.509_510delinsGG	p.T170R	Missense	4/18	-	1
9-32492450-AGT-CTC	c.508_510delinsGAG	p.T170E	Missense	4/18	-	5
9-32492452-T-C	c.508A>G	p.T170A	Missense	4/18	-	2
9-32492453-T-C	c.507A>G	p.K169=	Synonymous	4/18	-	1
9-32492453-TTT-GTC	c.505_507delinsGAC	p.K169D	Missense	4/18	-	1
9-32492454-T-C	c.506A>G	p.K169R	Missense	4/18	-	2
9-32492454-TT-GC	c.505_506delinsGC	p.K169A	Missense	4/18	-	1
9-32492458-G-A	c.502C>T	p.P168S	Missense	4/18	-	1
9-32492460-CA-GC	c.499_500delinsGC	p.W167A	Missense	4/18	-	3
9-32492462-G-A	c.498C>T	p.N166=	Synonymous	4/18	-	1
9-32492463-TT-GC	c.496_497delinsGC	p.N166A	Missense	4/18	-	1
9-32492468-C-T	c.492G>A	p.K164=	Synonymous	4/18	-	1
9-32492469-T-C	c.491A>G	p.K164R	Missense	4/18	-	7
9-32492469-TT-GC	c.490_491delinsGC	p.K164A	Missense	4/18	-	10
9-32492473-C-T	c.487G>A	p.D163N	Missense	4/18	-	3
9-32492476-A-C	c.484T>G	p.S162A	Missense	4/18	-	2
9-32492477-TCT-ATG	c.481_483delinsCAT	p.R161H	Missense	4/18	-	1
9-32492480-G-A	c.480C>T	p.L160=	Synonymous	4/18	-	2
9-32492482-G-A	c.478C>T	p.L160F	Missense	4/18	-	1
9-32492484-AG-GC	c.475_476delinsGC	p.L159A	Missense	4/18	-	2
9-32492485-G-A	c.475C>T	p.L159F	Missense	4/18	-	1
9-32492486-G-A	c.474C>T	p.C158=	Synonymous	4/18	-	1
9-32492487-C-A	c.473G>T	p.C158F	Missense	4/18	-	1
9-32492487-C-G	c.473G>C	p.C158S	Missense	4/18	-	1
9-32492488-A-T	c.472T>A	p.C158S	Missense	4/18	-	1
9-32492494-C-T	c.466G>A	p.V156M	Missense	4/18	-	1
9-32492498-T-A	c.462A>T	p.K154N	Missense	4/18	-	1
9-32492498-T-G	c.462A>C	p.K154N	Missense	4/18	-	1
9-32492499-T-C	c.461A>G	p.K154R	Missense	4/18	-	3
9-32492499-TT-GC	c.460_461delinsGC	p.K154A	Missense	4/18	-	1
9-32492501-C-A	c.459G>T	p.E153D	Missense	4/18	-	2
9-32492501-C-G	c.459G>C	p.E153D	Missense	4/18	-	2
9-32492505-G-A	c.455C>T	p.A152V	Missense	4/18	-	1
9-32492506-C-A	c.454G>T	p.A152S	Missense	4/18	-	2
9-32492506-C-T	c.454G>A	p.A152T	Missense	4/18	-	1
9-32492508-C-G	c.452G>C	p.G151A	Missense	4/18	-	1
9-32492508-C-T	c.452G>A	p.G151D	Missense	4/18	-	3
9-32492510-T-A	c.450A>T	p.A150=	Synonymous	4/18	-	1
9-32492510-T-C	c.450A>G	p.A150=	Synonymous	4/18	-	1
9-32492510-T-G	c.450A>C	p.A150=	Synonymous	4/18	-	1
9-32492511-G-A	c.449C>T	p.A150V	Missense	4/18	-	1
9-32492512-C-G	c.448G>C	p.A150P	Missense	4/18	-	1
9-32492513-C-A	c.447G>T	p.M149I	Missense	4/18	-	2
9-32492513-C-G	c.447G>C	p.M149I	Missense	4/18	-	1
9-32492513-C-T	c.447G>A	p.M149I	Missense	4/18	-	1
9-32492514-AT-GC	c.445_446delinsGC	p.M149A	Missense	4/18	-	1
9-32492516-C-A	c.444G>T	p.M148I	Missense	4/18	-	1
9-32492516-C-G	c.444G>C	p.M148I	Missense	4/18	-	1
9-32492516-C-T	c.444G>A	p.M148I	Missense	4/18	-	1
9-32492517-AT-GC	c.442_443delinsGC	p.M148A	Missense	4/18	-	1
9-32492519-C-G	c.441G>C	p.G147=	Synonymous	4/18	-	1
9-32492523-T-A	c.437A>T	p.K146M	Missense	4/18	-	1
9-32492523-T-C	c.437A>G	p.K146R	Missense	4/18	-	4
9-32492523-TT-GC	c.436_437delinsGC	p.K146A	Missense	4/18	-	1
9-32492524-T-C	c.436A>G	p.K146E	Missense	4/18	-	1
9-32492524-T-G	c.436A>C	p.K146Q	Missense	4/18	-	3
9-32492527-T-C	c.433A>G	p.T145A	Missense	4/18	-	4
9-32492529-G-A	c.431C>T	p.S144F	Missense	4/18	-	10
9-32492531-G-A	c.429C>T	p.C143=	Synonymous	4/18	-	1
9-32492532-C-T	c.428G>A	p.C143Y	Missense	4/18	-	1
9-32492532-C-G	c.428G>C	p.C143S	Missense	4/18	-	1
9-32492533-A-T	c.427T>A	p.C143S	Missense	4/18	-	1
9-32492534-A-C	c.426T>G	p.I142M	Missense	4/18	-	1
9-32492535-A-T	c.425T>A	p.I142N	Missense	4/18	-	1
9-32492536-T-C	c.424A>G	p.I142V	Missense	4/18	-	1
9-32493616-G-A	c.423+143C>T	-	IntronicSNV	-	3/17	1
9-32493759-C-A	c.423G>T	p.Q141H	Missense	3/18	-	1
9-32493759-C-G	c.423G>C	p.Q141H	Missense	3/18	-	1
9-32493760-T-C	c.422A>G	p.Q141R	Missense	3/18	-	1
9-32493761-G-C	c.421C>G	p.Q141E	Missense	3/18	-	1
9-32493762-TAG-GTC	c.418_420delinsGAC	p.L140D	Missense	3/18	-	1
9-32493763-AG-TC	c.418_419delinsGA	p.L140E	Missense	3/18	-	1
9-32493767-T-C	c.415A>G	p.I139V	Missense	3/18	-	1
9-32493767-T-G	c.415A>C	p.I139L	Missense	3/18	-	3
9-32493768-T-A	c.414A>T	p.E138D	Missense	3/18	-	1
9-32493768-T-G	c.414A>C	p.E138D	Missense	3/18	-	1
9-32493770-C-G	c.412G>C	p.E138Q	Missense	3/18	-	1
9-32493775-C-A	c.407G>T	p.C136F	Missense	3/18	-	1
9-32493778-T-A	c.404A>T	p.E135V	Missense	3/18	-	1
9-32493778-T-G	c.404A>C	p.E135A	Missense	3/18	-	2
9-32493781-TG-GC	c.400_401delinsGC	p.Q134A	Missense	3/18	-	1
9-32493787-A-G	c.395T>C	p.I132T	Missense	3/18	-	1
9-32493790-AA-GC	c.391_392delinsGC	p.L131A	Missense	3/18	-	2
9-32493796-T-A	c.386A>T	p.E129V	Missense	3/18	-	1
9-32493799-GA-TT	c.382_383delinsAA	p.S128N	Missense	3/18	-	1
9-32493800-A-G	c.382T>C	p.S128P	Missense	3/18	-	1
9-32493800-A-T	c.382T>A	p.S128T	Missense	3/18	-	1
9-32493801-C-A	c.381G>T	p.L127=	Synonymous	3/18	-	4
9-32493801-C-G	c.381G>C	p.L127=	Synonymous	3/18	-	3
9-32493801-C-T	c.381G>A	p.L127=	Synonymous	3/18	-	4
9-32493803-G-A	c.379C>T	p.L127=	Synonymous	3/18	-	4
9-32493802-A-G	c.380T>C	p.L127P	Missense	3/18	-	2
9-32493803-G-C	c.379C>G	p.L127V	Missense	3/18	-	1
9-32493808-G-A	c.374C>T	p.S125F	Missense	3/18	-	1
9-32493808-G-T	c.374C>A	p.S125Y	Missense	3/18	-	1
9-32493809-A-G	c.373T>C	p.S125P	Missense	3/18	-	2
9-32493810-A-C	c.372T>G	p.I124M	Missense	3/18	-	1
9-32493812-T-A	c.370A>T	p.I124F	Missense	3/18	-	1
9-32493812-T-C	c.370A>G	p.I124V	Missense	3/18	-	1
9-32493813-G-A	c.369C>T	p.I123=	Synonymous	3/18	-	1
9-32493813-G-T	c.369C>A	p.I123=	Synonymous	3/18	-	2
9-32493815-T-C	c.367A>G	p.I123V	Missense	3/18	-	1
9-32493817-T-G	c.365A>C	p.D122A	Missense	3/18	-	5
9-32493818-C-T	c.364G>A	p.D122N	Missense	3/18	-	4
9-32493821-T-A	c.361A>T	p.T121S	Missense	3/18	-	1
9-32493821-T-C	c.361A>G	p.T121A	Missense	3/18	-	1
9-32493823-G-A	c.359C>T	p.P120L	Missense	3/18	-	2
9-32493823-GG-CC	c.358_359inv	p.P120G	Missense	3/18	-	1
9-32493824-G-A	c.358C>T	p.P120S	Missense	3/18	-	1
9-32493832-C-T	c.350G>A	p.R117K	Missense	3/18	-	1
9-32493833-T-C	c.349A>G	p.R117G	Missense	3/18	-	2
9-32493835-G-A	c.347C>T	p.T116I	Missense	3/18	-	2
9-32493837-T-C	c.345A>G	p.K115=	Synonymous	3/18	-	1
9-32493838-T-C	c.344A>G	p.K115R	Missense	3/18	-	3
9-32493838-TT-GC	c.343_344delinsGC	p.K115A	Missense	3/18	-	2
9-32493844-T-G	c.338A>C	p.E113A	Missense	3/18	-	1
9-32493845-C-A	c.337G>T	p.E113*	Nonsense	3/18	-	1
9-32493847-G-T	c.335C>A	p.P112Q	Missense	3/18	-	2
9-32493848-G-A	c.334C>T	p.P112S	Missense	3/18	-	2
9-32493848-G-C	c.334C>G	p.P112A	Missense	3/18	-	2
9-32493849-T-C	c.333A>G	p.Q111=	Synonymous	3/18	-	1
9-32493856-CG-GC	c.325_326delinsGC	p.R109A	Missense	3/18	-	2
9-32493856-C-T	c.326G>A	p.R109H	Missense	3/18	-	2
9-32493857-G-T	c.325C>A	p.R109S	Missense	3/18	-	1
9-32493859-T-C	c.323A>G	p.K108R	Missense	3/18	-	4
9-32493859-TT-GC	c.322_323delinsGC	p.K108A	Missense	3/18	-	2
9-32493860-T-C	c.322A>G	p.K108E	Missense	3/18	-	1
9-32493860-T-G	c.322A>C	p.K108Q	Missense	3/18	-	1
9-32493862-AA-GC	c.319_320delinsGC	p.L107A	Missense	3/18	-	2
9-32493865-A-G	c.317T>C	p.L106P	Missense	3/18	-	2
9-32493866-G-T	c.316C>A	p.L106I	Missense	3/18	-	1
9-32493869-A-C	c.313T>G	p.L105V	Missense	3/18	-	1
9-32493874-T-C	c.308A>G	p.Y103C	Missense	3/18	-	2
9-32493877-T-G	c.305A>C	p.E102A	Missense	3/18	-	1
9-32493884-A-C	c.298T>G	p.L100V	Missense	3/18	-	1
9-32493886-T-C	c.296A>G	p.K99R	Missense	3/18	-	2
9-32493888-TTTC-T	c.292_294del	p.E98del	InFrameDeletion	3/18	-	1
9-32493889-T-C	c.293A>G	p.E98G	Missense	3/18	-	1
9-32493895-T-C	c.287A>G	p.K96R	Missense	3/18	-	2
9-32493895-T-G	c.287A>C	p.K96T	Missense	3/18	-	3
9-32493898-T-C	c.284A>G	p.K95R	Missense	3/18	-	1
9-32493898-TT-GC	c.283_284delinsGC	p.K95A	Missense	3/18	-	1
9-32493892-A-AT	c.289dup	p.I97Nfs*2	Frameshift	3/18	-	1
9-32493892-AT-A	c.289del	p.I97Lfs*11	Frameshift	3/18	-	3
9-32493899-T-C	c.283A>G	p.K95E	Missense	3/18	-	2
9-32493904-T-A	c.278A>T	p.D93V	Missense	3/18	-	1
9-32493904-T-G	c.278A>C	p.D93A	Missense	3/18	-	1
9-32493905-C-A	c.277G>T	p.D93Y	Missense	3/18	-	1
9-32493906-C-A	c.276G>T	p.W92C	Missense	3/18	-	1
9-32493904-TC-T	c.277del	p.D93Ifs*15	Frameshift	3/18	-	1
9-32493914-C-T	c.268G>A	p.E90K	Missense	3/18	-	2
9-32493919-G-A	c.263C>T	p.A88V	Missense	3/18	-	1
9-32493920-C-A	c.262G>T	p.A88S	Missense	3/18	-	1
9-32493926-A-G	c.256T>C	p.Y86H	Missense	3/18	-	1
9-32493930-TCC-ACA	c.250_252delinsTGT	p.G84C	Missense	3/18	-	1
9-32493931-C-G	c.251G>C	p.G84A	Missense	3/18	-	1
9-32493931-C-T	c.251G>A	p.G84E	Missense	3/18	-	1
9-32493932-C-G	c.250G>C	p.G84R	Missense	3/18	-	1
9-32493932-C-T	c.250G>A	p.G84R	Missense	3/18	-	2
9-32493936-ATA-CTC	c.244_246delinsGAG	p.Y82E	Missense	3/18	-	1
9-32493937-T-A	c.245A>T	p.Y82F	Missense	3/18	-	1
9-32493940-C-G	c.242G>C	p.G81A	Missense	3/18	-	1
9-32493940-C-T	c.242G>A	p.G81D	Missense	3/18	-	2
9-32495798-C-G	c.242-1858G>C	-	IntronicSNV	-	2/17	1
9-32495798-C-T	c.242-1858G>A	-	IntronicSNV	-	2/17	1
9-32498291-A-G	c.241+2512T>C	-	IntronicSNV	-	2/17	4
9-32498291-A-T	c.241+2512T>A	-	IntronicSNV	-	2/17	3
9-32498735-AC-A	c.241+2068del	-	IntronicDeletion	-	2/17	1
9-32499840-A-G	c.241+963T>C	-	IntronicSNV	-	2/17	1
9-32500714-A-G	c.241+89T>C	-	IntronicSNV	-	2/17	1
9-32500802-C-T	c.241+1G>A	-	IntronicSNV	-	2/17	1
9-32500806-C-T	c.238G>A	p.A80T	Missense	2/18	-	1
9-32500808-T-C	c.236A>G	p.H79R	Missense	2/18	-	1
9-32500808-TG-CC	c.235_236delinsGG	p.H79G	Missense	2/18	-	2
9-32500809-G-A	c.235C>T	p.H79Y	Missense	2/18	-	3
9-32500810-G-A	c.234C>T	p.D78=	Synonymous	2/18	-	1
9-32500810-G-C	c.234C>G	p.D78E	Missense	2/18	-	1
9-32500810-G-T	c.234C>A	p.D78E	Missense	2/18	-	1
9-32500811-T-C	c.233A>G	p.D78G	Missense	2/18	-	1
9-32500811-TC-AA	c.232_233delinsTT	p.D78F	Missense	2/18	-	1
9-32500816-G-A	c.228C>T	p.A76=	Synonymous	2/18	-	1
9-32500816-G-C	c.228C>G	p.A76=	Synonymous	2/18	-	1
9-32500816-GG-CT	c.227_228delinsAG	p.A76E	Missense	2/18	-	1
9-32500816-G-T	c.228C>A	p.A76=	Synonymous	2/18	-	1
9-32500817-G-A	c.227C>T	p.A76V	Missense	2/18	-	1
9-32500820-T-C	c.224A>G	p.D75G	Missense	2/18	-	2
9-32500821-C-A	c.223G>T	p.D75Y	Missense	2/18	-	1
9-32500827-A-G	c.217T>C	p.F73L	Missense	2/18	-	1
9-32500831-A-C	c.213T>G	p.R71=	Synonymous	2/18	-	1
9-32500831-A-G	c.213T>C	p.R71=	Synonymous	2/18	-	2
9-32500831-A-T	c.213T>A	p.R71=	Synonymous	2/18	-	1
9-32500832-CG-TC	c.211_212delinsGA	p.R71D	Missense	2/18	-	1
9-32500832-C-T	c.212G>A	p.R71H	Missense	2/18	-	19
9-32500833-G-A	c.211C>T	p.R71C	Missense	2/18	-	1
9-32500834-G-A	c.210C>T	p.F70=	Synonymous	2/18	-	2
9-32500838-CA-GC	c.205_206delinsGC	p.W69A	Missense	2/18	-	1
9-32500842-C-G	c.202G>C	p.G68R	Missense	2/18	-	1
9-32500842-C-T	c.202G>A	p.G68S	Missense	2/18	-	2
9-32500843-T-A	c.201A>T	p.E67D	Missense	2/18	-	1
9-32500843-T-G	c.201A>C	p.E67D	Missense	2/18	-	1
9-32500844-T-C	c.200A>G	p.E67G	Missense	2/18	-	1
9-32500845-C-T	c.199G>A	p.E67K	Missense	2/18	-	7
9-32500846-C-T	c.198G>A	p.E66=	Synonymous	2/18	-	4
9-32500847-T-A	c.197A>T	p.E66V	Missense	2/18	-	1
9-32500847-T-G	c.197A>C	p.E66A	Missense	2/18	-	1
9-32500848-C-T	c.196G>A	p.E66K	Missense	2/18	-	3
9-32500850-T-C	c.194A>G	p.Q65R	Missense	2/18	-	1
9-32500852-G-A	c.192C>T	p.L64=	Synonymous	2/18	-	1
9-32500853-A-G	c.191T>C	p.L64P	Missense	2/18	-	1
9-32500862-A-C	c.182T>G	p.L61R	Missense	2/18	-	3
9-32500864-G-A	c.180C>T	p.F60=	Synonymous	2/18	-	1
9-32500868-T-C	c.176A>G	p.K59R	Missense	2/18	-	5
9-32500868-TT-GC	c.175_176delinsGC	p.K59A	Missense	2/18	-	3
9-32500869-T-G	c.175A>C	p.K59Q	Missense	2/18	-	1
9-32500871-AG-GC	c.172_173delinsGC	p.L58A	Missense	2/18	-	2
9-32500871-A-T	c.173T>A	p.L58H	Missense	2/18	-	1
9-32500875-A-G	c.169T>C	p.F57L	Missense	2/18	-	2
9-32500878-G-A	c.166C>T	p.L56F	Missense	2/18	-	1
9-32500879-TGT-GTC	c.163_165delinsGAC	p.T55D	Missense	2/18	-	1
9-32500880-G-A	c.164C>T	p.T55I	Missense	2/18	-	39
9-32500880-GT-TC	c.163_164delinsGA	p.T55E	Missense	2/18	-	1
9-32500881-T-C	c.163A>G	p.T55A	Missense	2/18	-	2
9-32500882-GGC-TTG	c.160_162delinsCAA	p.A54Q	Missense	2/18	-	1
9-32500883-GC-AA	c.160_161delinsTT	p.A54F	Missense	2/18	-	1
9-32500883-GC-TG	c.160_161delinsCA	p.A54H	Missense	2/18	-	1
9-32500883-G-T	c.161C>A	p.A54D	Missense	2/18	-	1
9-32500884-C-A	c.160G>T	p.A54S	Missense	2/18	-	1
9-32500884-C-T	c.160G>A	p.A54T	Missense	2/18	-	2
9-32500885-A-C	c.159T>G	p.A53=	Synonymous	2/18	-	1
9-32500885-A-G	c.159T>C	p.A53=	Synonymous	2/18	-	1
9-32500885-A-T	c.159T>A	p.A53=	Synonymous	2/18	-	1
9-32500886-GC-CG	c.157_158delinsCG	p.A53R	Missense	2/18	-	1
9-32500887-C-T	c.157G>A	p.A53T	Missense	2/18	-	2
9-32500888-C-T	c.156G>A	p.E52=	Synonymous	2/18	-	1
9-32500889-T-G	c.155A>C	p.E52A	Missense	2/18	-	1
9-32500890-C-T	c.154G>A	p.E52K	Missense	2/18	-	1
9-32500892-A-C	c.152T>G	p.M51R	Missense	2/18	-	17
9-32500892-A-G	c.152T>C	p.M51T	Missense	2/18	-	1
9-32500892-AT-GC	c.151_152delinsGC	p.M51A	Missense	2/18	-	1
9-32500895-G-C	c.149C>G	p.P50R	Missense	2/18	-	1
9-32500895-GG-TT	c.148_149delinsAA	p.P50K	Missense	2/18	-	3
9-32500896-G-T	c.148C>A	p.P50T	Missense	2/18	-	3
9-32500898-C-T	c.146G>A	p.G49D	Missense	2/18	-	2
9-32500899-C-A	c.145G>T	p.G49C	Missense	2/18	-	1
9-32500900-C-A	c.144G>T	p.K48N	Missense	2/18	-	5
9-32500900-C-G	c.144G>C	p.K48N	Missense	2/18	-	3
9-32500900-C-T	c.144G>A	p.K48=	Synonymous	2/18	-	1
9-32500900-CTT-ACA	c.142_144delinsTGT	p.K48C	Missense	2/18	-	1
9-32500901-T-C	c.143A>G	p.K48R	Missense	2/18	-	49
9-32500901-TT-GC	c.142_143delinsGC	p.K48A	Missense	2/18	-	2
9-32500903-G-T	c.141C>A	p.N47K	Missense	2/18	-	1
9-32500907-T-C	c.137A>G	p.N46S	Missense	2/18	-	1
9-32500908-T-A	c.136A>T	p.N46Y	Missense	2/18	-	1
9-32500908-T-C	c.136A>G	p.N46D	Missense	2/18	-	1
9-32500910-T-C	c.134A>G	p.K45R	Missense	2/18	-	3
9-32500910-TT-GC	c.133_134delinsGC	p.K45A	Missense	2/18	-	3
9-32500911-T-TA	c.132_133insT	p.K45*	Nonsense	2/18	-	1
9-32500912-C-A	c.132G>T	p.E44D	Missense	2/18	-	4
9-32500912-C-G	c.132G>C	p.E44D	Missense	2/18	-	3
9-32500912-TCTC-T	c.130_132del	p.E44del	InFrameDeletion	2/18	-	1
9-32500915-AG-CT	c.128_129inv	p.A43E	Missense	2/18	-	1
9-32500916-G-A	c.128C>T	p.A43V	Missense	2/18	-	1
9-32500916-G-T	c.128C>A	p.A43D	Missense	2/18	-	1
9-32500918-C-A	c.126G>T	p.Q42H	Missense	2/18	-	1
9-32500918-C-G	c.126G>C	p.Q42H	Missense	2/18	-	1
9-32500919-T-C	c.125A>G	p.Q42R	Missense	2/18	-	1
9-32500928-T-A	c.116A>T	p.Q39L	Missense	2/18	-	4
9-32500930-CAC-GAT	c.112_114delinsATC	p.V38I	Missense	2/18	-	1
9-32500936-T-A	c.108A>T	p.E36D	Missense	2/18	-	1
9-32500936-T-G	c.108A>C	p.E36D	Missense	2/18	-	1
9-32500937-T-C	c.107A>G	p.E36G	Missense	2/18	-	2
9-32503440-T-A	c.107-2503A>T	-	IntronicSNV	-	1/17	7
9-32503440-T-C	c.107-2503A>G	-	IntronicSNV	-	1/17	7
9-32504294-T-A	c.107-3357A>T	-	IntronicSNV	-	1/17	3
9-32504294-T-C	c.107-3357A>G	-	IntronicSNV	-	1/17	3
9-32504316-A-G	c.107-3379T>C	-	IntronicSNV	-	1/17	1
9-32505476-C-G	c.107-4539G>C	-	IntronicSNV	-	1/17	1
9-32506172-C-T	c.107-5235G>A	-	IntronicSNV	-	1/17	1
9-32514395-A-G	c.106+11664T>C	-	IntronicSNV	-	1/17	1
9-32514394-TA-T	c.106+11664del	-	IntronicDeletion	-	1/17	1
9-32514826-C-G	c.106+11233G>C	-	IntronicSNV	-	1/17	1
9-32514826-C-T	c.106+11233G>A	-	IntronicSNV	-	1/17	1
9-32516864-G-A	c.106+9195C>T	-	IntronicSNV	-	1/17	1
9-32516949-T-G	c.106+9110A>C	-	IntronicSNV	-	1/17	1
9-32517175-T-A	c.106+8884A>T	-	IntronicSNV	-	1/17	2
9-32517175-T-G	c.106+8884A>C	-	IntronicSNV	-	1/17	2
9-32519154-T-C	c.106+6905A>G	-	IntronicSNV	-	1/17	1
9-32519154-T-G	c.106+6905A>C	-	IntronicSNV	-	1/17	1
9-32521579-T-C	c.106+4480A>G	-	IntronicSNV	-	1/17	1
9-32521579-T-G	c.106+4480A>C	-	IntronicSNV	-	1/17	1
9-32521578-GT-G	c.106+4480del	-	IntronicDeletion	-	1/17	1
9-32523737-T-C	c.106+2322A>G	-	IntronicSNV	-	1/17	25
9-32525794-C-G	c.106+265G>C	-	IntronicSNV	-	1/17	1
9-32525794-C-CAG	c.106+264_106+265insCT	-	IntronicInsertion	-	1/17	1
9-32525794-C-CAGAAAATTTCTTTTTTTTTGTGAAAATAAATGAAACAG	c.106+264_106+265insCTGTTTCATTTATTTTCACAAAAAAAAAGAAATTTTCT	-	IntronicInsertion	-	1/17	1
9-32525795-A-AG	c.106+263_106+264insC	-	IntronicInsertion	-	1/17	1
9-32525915-C-G	c.106+144G>C	-	IntronicSNV	-	1/17	7
9-32525969-C-A	c.106+90G>T	-	IntronicSNV	-	1/17	4
9-32526004-G-A	c.106+55C>T	-	IntronicSNV	-	1/17	1
9-32526061-T-G	c.104A>C	p.E35A	Missense	1/18	-	1
9-32526063-C-A	c.102G>T	p.R34S	Missense	1/18	-	1
9-32526063-C-G	c.102G>C	p.R34S	Missense	1/18	-	1
9-32526063-C-T	c.102G>A	p.R34=	Synonymous	1/18	-	1
9-32526065-T-G	c.100A>C	p.R34=	Synonymous	1/18	-	1
9-32526064-CT-GC	c.100_101delinsGC	p.R34A	Missense	1/18	-	1
9-32526064-CT-TC	c.100_101delinsGA	p.R34E	Missense	1/18	-	1
9-32526065-T-C	c.100A>G	p.R34G	Missense	1/18	-	1
9-32526074-G-A	c.91C>T	p.P31S	Missense	1/18	-	1
9-32526075-G-A	c.90C>T	p.A30=	Synonymous	1/18	-	1
9-32526075-G-C	c.90C>G	p.A30=	Synonymous	1/18	-	1
9-32526075-GGC-TTA	c.88_90delinsTAA	p.A30*	Nonsense	1/18	-	1
9-32526075-G-T	c.90C>A	p.A30=	Synonymous	1/18	-	1
9-32526076-G-A	c.89C>T	p.A30V	Missense	1/18	-	1
9-32526076-G-T	c.89C>A	p.A30D	Missense	1/18	-	1
9-32526077-C-G	c.88G>C	p.A30P	Missense	1/18	-	5
9-32526077-C-T	c.88G>A	p.A30T	Missense	1/18	-	2
9-32526078-C-A	c.87G>T	p.M29I	Missense	1/18	-	1
9-32526078-C-G	c.87G>C	p.M29I	Missense	1/18	-	1
9-32526078-C-T	c.87G>A	p.M29I	Missense	1/18	-	1
9-32526084-G-C	c.81C>G	p.S27R	Missense	1/18	-	1
9-32526084-G-T	c.81C>A	p.S27R	Missense	1/18	-	1
9-32526086-T-G	c.79A>C	p.S27R	Missense	1/18	-	1
9-32526085-CT-GC	c.79_80delinsGC	p.S27A	Missense	1/18	-	4
9-32526087-CAG-AAA	c.76_78delinsTTT	p.L26F	Missense	1/18	-	1
9-32526089-G-T	c.76C>A	p.L26M	Missense	1/18	-	3
9-32526093-G-A	c.72C>T	p.Y24=	Synonymous	1/18	-	1
9-32526096-GG-CA	c.68_69delinsTG	p.T23M	Missense	1/18	-	1
9-32526100-GG-TT	c.64_65delinsAA	p.P22N	Missense	1/18	-	1
9-32526101-G-A	c.64C>T	p.P22S	Missense	1/18	-	3
9-32526102-G-C	c.63C>G	p.D21E	Missense	1/18	-	1
9-32526102-G-T	c.63C>A	p.D21E	Missense	1/18	-	1
9-32526103-T-C	c.62A>G	p.D21G	Missense	1/18	-	1
9-32526103-T-G	c.62A>C	p.D21A	Missense	1/18	-	1
9-32526104-C-A	c.61G>T	p.D21Y	Missense	1/18	-	1
9-32526107-G-C	c.58C>G	p.L20V	Missense	1/18	-	1
9-32526108-G-A	c.57C>T	p.T19=	Synonymous	1/18	-	1
9-32526108-G-C	c.57C>G	p.T19=	Synonymous	1/18	-	1
9-32526108-GG-CC	c.56_57inv	p.T19R	Missense	1/18	-	9
9-32526108-G-T	c.57C>A	p.T19=	Synonymous	1/18	-	2
9-32526109-G-A	c.56C>T	p.T19I	Missense	1/18	-	1
9-32526109-G-T	c.56C>A	p.T19N	Missense	1/18	-	1
9-32526110-T-C	c.55A>G	p.T19A	Missense	1/18	-	1
9-32526111-C-G	c.54G>C	p.K18N	Missense	1/18	-	1
9-32526111-C-T	c.54G>A	p.K18=	Synonymous	1/18	-	1
9-32526112-T-A	c.53A>T	p.K18M	Missense	1/18	-	1
9-32526112-T-C	c.53A>G	p.K18R	Missense	1/18	-	3
9-32526112-TT-AG	c.52_53delinsCT	p.K18L	Missense	1/18	-	1
9-32526112-TT-GC	c.52_53delinsGC	p.K18A	Missense	1/18	-	2
9-32526113-T-A	c.52A>T	p.K18*	Nonsense	1/18	-	1
9-32526117-G-A	c.48C>T	p.I16=	Synonymous	1/18	-	1
9-32526117-G-T	c.48C>A	p.I16=	Synonymous	1/18	-	1
9-32526121-TA-GC	c.43_44delinsGC	p.Y15A	Missense	1/18	-	1
9-32526123-ATC-TTA	c.40_42delinsTAA	p.D14*	Nonsense	1/18	-	1
9-32526124-TC-AG	c.40_41delinsCT	p.D14L	Missense	1/18	-	1
9-32526125-C-A	c.40G>T	p.D14Y	Missense	1/18	-	1
9-32526125-C-CA	c.39_40insT	p.D14*	Nonsense	1/18	-	1
9-32526125-C-G	c.40G>C	p.D14H	Missense	1/18	-	1
9-32526127-T-C	c.38A>G	p.Q13R	Missense	1/18	-	1
9-32526129-GAA-CTT	c.34_36delinsAAG	p.F12K	Missense	1/18	-	56
9-32526129-G-C	c.36C>G	p.F12L	Missense	1/18	-	1
9-32526129-G-T	c.36C>A	p.F12L	Missense	1/18	-	1
9-32526131-A-G	c.34T>C	p.F12L	Missense	1/18	-	1
9-32526132-GG-CT	c.32_33delinsAG	p.A11E	Missense	1/18	-	2
9-32526133-GC-CA	c.31_32delinsTG	p.A11C	Missense	1/18	-	1
9-32526133-GC-TG	c.31_32delinsCA	p.A11H	Missense	1/18	-	2
9-32526133-GC-TT	c.31_32delinsAA	p.A11N	Missense	1/18	-	1
9-32526134-C-T	c.31G>A	p.A11T	Missense	1/18	-	1
9-32526134-C-CT	c.30dup	p.A11Sfs*24	Frameshift	1/18	-	1
9-32526136-T-A	c.29A>T	p.Q10L	Missense	1/18	-	1
9-32526136-T-C	c.29A>G	p.Q10R	Missense	1/18	-	1
9-32526136-TG-GC	c.28_29delinsGC	p.Q10A	Missense	1/18	-	1
9-32526137-G-C	c.28C>G	p.Q10E	Missense	1/18	-	2
9-32526142-C-T	c.23G>A	p.S8N	Missense	1/18	-	1
9-32526144-G-A	c.21C>T	p.R7=	Synonymous	1/18	-	1
9-32526144-G-C	c.21C>G	p.R7=	Synonymous	1/18	-	1
9-32526144-G-T	c.21C>A	p.R7=	Synonymous	1/18	-	1
9-32526145-C-T	c.20G>A	p.R7H	Missense	1/18	-	2
9-32526146-G-A	c.19C>T	p.R7C	Missense	1/18	-	52
9-32526150-C-A	c.15G>T	p.Q5H	Missense	1/18	-	1
9-32526150-C-G	c.15G>C	p.Q5H	Missense	1/18	-	1
9-32526156-G-A	c.9C>T	p.T3=	Synonymous	1/18	-	3
9-32526156-G-C	c.9C>G	p.T3=	Synonymous	1/18	-	1
9-32526156-G-T	c.9C>A	p.T3=	Synonymous	1/18	-	1
9-32526157-G-A	c.8C>T	p.T3I	Missense	1/18	-	1
9-32526159-G-A	c.6C>T	p.T2=	Synonymous	1/18	-	2
9-32526160-G-A	c.5C>T	p.T2I	Missense	1/18	-	1
9-32526162-C-A	c.3G>T	p.M1?	Missense	1/18	-	1
9-32526162-C-G	c.3G>C	p.M1?	Missense	1/18	-	1
9-32526162-C-T	c.3G>A	p.M1?	Missense	1/18	-	1
9-32526163-A-C	c.2T>G	p.M1?	Missense	1/18	-	1
9-32526164-T-C	c.1A>G	p.M1?	Missense	1/18	-	1