LONP1

LONP1 lon peptidase 1, mitochondrial

Annotation transcript: NM_004793.4

1408 unique variant annotations were identified in 477 publications

Gene-Specific Resource Links:

OMIM

Entrez

Ensembl

HGNC

COSMIC

ClinGen

PubMed

GeneReviews

ClinVar

gnomAD v3

gnomAD v2.1

Variant ID	cDot	pDot	Consequence	Exon	Intron	Reference Count
19-5691892-A-AT	c.*150dup	-	3-UTRInsertion	18/18	-	1
19-5691933-G-A	c.*110C>T	-	3-UTRSNV	18/18	-	2
19-5691933-G-C	c.*110C>G	-	3-UTRSNV	18/18	-	2
19-5692004-A-AG	c.*38dup	-	3-UTRInsertion	18/18	-	1
19-5692027-A-C	c.*16T>G	-	3-UTRSNV	18/18	-	1
19-5692027-A-G	c.*16T>C	-	3-UTRSNV	18/18	-	1
19-5692031-C-T	c.*12G>A	-	3-UTRSNV	18/18	-	1
19-5692033-G-A	c.*10C>T	-	3-UTRSNV	18/18	-	1
19-5692033-G-C	c.*10C>G	-	3-UTRSNV	18/18	-	1
19-5692034-G-A	c.*9C>T	-	3-UTRSNV	18/18	-	1
19-5692042-G-A	c.*1C>T	-	3-UTRSNV	18/18	-	1
19-5692044-C-T	c.2879G>A	p.*960=	Synonymous	18/18	-	1
19-5692046-C-G	c.2877G>C	p.R959=	Synonymous	18/18	-	1
19-5692046-C-T	c.2877G>A	p.R959=	Synonymous	18/18	-	1
19-5692047-C-T	c.2876G>A	p.R959Q	Missense	18/18	-	1
19-5692048-G-A	c.2875C>T	p.R959W	Missense	18/18	-	1
19-5692051-C-G	c.2872G>C	p.E958Q	Missense	18/18	-	1
19-5692053-A-G	c.2870T>C	p.V957A	Missense	18/18	-	1
19-5692054-C-A	c.2869G>T	p.V957L	Missense	18/18	-	1
19-5692054-C-T	c.2869G>A	p.V957M	Missense	18/18	-	2
19-5692055-G-A	c.2868C>T	p.A956=	Synonymous	18/18	-	1
19-5692055-G-C	c.2868C>G	p.A956=	Synonymous	18/18	-	1
19-5692055-G-T	c.2868C>A	p.A956=	Synonymous	18/18	-	1
19-5692056-G-A	c.2867C>T	p.A956V	Missense	18/18	-	1
19-5692058-C-A	c.2865G>T	p.L955=	Synonymous	18/18	-	1
19-5692058-C-G	c.2865G>C	p.L955=	Synonymous	18/18	-	1
19-5692058-C-T	c.2865G>A	p.L955=	Synonymous	18/18	-	1
19-5692060-G-A	c.2863C>T	p.L955=	Synonymous	18/18	-	1
19-5692061-C-A	c.2862G>T	p.A954=	Synonymous	18/18	-	1
19-5692061-C-G	c.2862G>C	p.A954=	Synonymous	18/18	-	2
19-5692061-C-T	c.2862G>A	p.A954=	Synonymous	18/18	-	3
19-5692062-G-A	c.2861C>T	p.A954V	Missense	18/18	-	2
19-5692064-C-T	c.2859G>A	p.E953=	Synonymous	18/18	-	2
19-5692067-T-C	c.2856A>G	p.A952=	Synonymous	18/18	-	1
19-5692068-G-C	c.2855C>G	p.A952G	Missense	18/18	-	1
19-5692072-G-A	c.2851C>T	p.Q951*	Nonsense	18/18	-	4
19-5692076-G-T	c.2847C>A	p.D949E	Missense	18/18	-	1
19-5692077-T-G	c.2846A>C	p.D949A	Missense	18/18	-	1
19-5692085-G-A	c.2838C>T	p.A946=	Synonymous	18/18	-	1
19-5692087-C-T	c.2836G>A	p.A946T	Missense	18/18	-	2
19-5692093-C-G	c.2830G>C	p.D944H	Missense	18/18	-	1
19-5692093-C-T	c.2830G>A	p.D944N	Missense	18/18	-	5
19-5692095-A-G	c.2828T>C	p.F943S	Missense	18/18	-	1
19-5692100-C-T	c.2823G>A	p.E941=	Synonymous	18/18	-	1
19-5692102-C-G	c.2821G>C	p.E941Q	Missense	18/18	-	2
19-5692104-C-A	c.2819G>T	p.R940L	Missense	18/18	-	2
19-5692104-C-T	c.2819G>A	p.R940Q	Missense	18/18	-	3
19-5692109-G-A	c.2814C>T	p.H938=	Synonymous	18/18	-	1
19-5692109-G-C	c.2814C>G	p.H938Q	Missense	18/18	-	1
19-5692111-G-A	c.2812C>T	p.H938Y	Missense	18/18	-	1
19-5692112-T-C	c.2811A>G	p.E937=	Synonymous	18/18	-	1
19-5692114-C-T	c.2809G>A	p.E937K	Missense	18/18	-	1
19-5692117-C-A	c.2806G>T	p.V936L	Missense	18/18	-	1
19-5692117-C-G	c.2806G>C	p.V936L	Missense	18/18	-	1
19-5692117-C-T	c.2806G>A	p.V936M	Missense	18/18	-	2
19-5692120-A-G	c.2803T>C	p.F935L	Missense	18/18	-	1
19-5692123-G-A	c.2800C>T	p.H934Y	Missense	18/18	-	1
19-5692123-G-C	c.2800C>G	p.H934D	Missense	18/18	-	1
19-5692133-GC-CT	c.2789_2790delinsAG	p.G930E	Missense	18/18	-	1
19-5692134-C-A	c.2789G>T	p.G930V	Missense	18/18	-	1
19-5692138-C-T	c.2785G>A	p.E929K	Missense	18/18	-	1
19-5692139-G-A	c.2784C>T	p.T928=	Synonymous	18/18	-	1
19-5692139-G-C	c.2784C>G	p.T928=	Synonymous	18/18	-	1
19-5692139-G-T	c.2784C>A	p.T928=	Synonymous	18/18	-	1
19-5692140-G-T	c.2783C>A	p.T928N	Missense	18/18	-	2
19-5692142-G-A	c.2781C>T	p.I927=	Synonymous	18/18	-	1
19-5692140-GTGA-G	c.2780_2782del	p.I927del	InFrameDeletion	18/18	-	3
19-5692144-T-A	c.2779A>T	p.I927F	Missense	18/18	-	1
19-5692144-T-C	c.2779A>G	p.I927V	Missense	18/18	-	1
19-5692149-G-C	c.2774C>G	p.A925G	Missense	18/18	-	1
19-5692152-G-A	c.2771C>T	p.A924V	Missense	18/18	-	1
19-5692155-A-G	c.2768T>C	p.L923P	Missense	18/18	-	1
19-5692155-A-T	c.2768T>A	p.L923Q	Missense	18/18	-	1
19-5692156-G-A	c.2767C>T	p.L923=	Synonymous	18/18	-	1
19-5692157-G-C	c.2766C>G	p.D922E	Missense	18/18	-	1
19-5692157-G-T	c.2766C>A	p.D922E	Missense	18/18	-	1
19-5692159-C-A	c.2764G>T	p.D922Y	Missense	18/18	-	3
19-5692159-C-G	c.2764G>C	p.D922H	Missense	18/18	-	1
19-5692159-C-T	c.2764G>A	p.D922N	Missense	18/18	-	3
19-5692166-G-A	c.2757C>T	p.D919=	Synonymous	18/18	-	2
19-5692167-T-A	c.2756A>T	p.D919V	Missense	18/18	-	4
19-5692168-C-A	c.2755G>T	p.D919Y	Missense	18/18	-	2
19-5692168-C-T	c.2755G>A	p.D919N	Missense	18/18	-	1
19-5692172-C-G	c.2751G>C	p.K917N	Missense	18/18	-	1
19-5692173-T-G	c.2750A>C	p.K917T	Missense	18/18	-	1
19-5692178-C-A	c.2745G>T	p.E915D	Missense	18/18	-	1
19-5692178-C-G	c.2745G>C	p.E915D	Missense	18/18	-	1
19-5692178-C-T	c.2745G>A	p.E915=	Synonymous	18/18	-	2
19-5692180-C-T	c.2743G>A	p.E915K	Missense	18/18	-	1
19-5692181-G-A	c.2742C>T	p.A914=	Synonymous	18/18	-	1
19-5692182-G-T	c.2741C>A	p.A914D	Missense	18/18	-	1
19-5692186-G-A	c.2737C>T	p.P913S	Missense	18/18	-	1
19-5692192-C-G	c.2731G>C	p.V911L	Missense	18/18	-	7
19-5692192-C-T	c.2731G>A	p.V911I	Missense	18/18	-	23
19-5692193-G-A	c.2730C>T	p.I910=	Synonymous	18/18	-	1
19-5692193-G-T	c.2730C>A	p.I910=	Synonymous	18/18	-	1
19-5692197-C-G	c.2726G>C	p.C909S	Missense	18/18	-	1
19-5692198-A-T	c.2725T>A	p.C909S	Missense	18/18	-	1
19-5692199-C-A	c.2724G>T	p.T908=	Synonymous	18/18	-	1
19-5692199-C-T	c.2724G>A	p.T908=	Synonymous	18/18	-	1
19-5692204-C-T	c.2719G>A	p.V907M	Missense	18/18	-	1
19-5692206-C-G	c.2717G>C	p.G906A	Missense	18/18	-	1
19-5692206-C-T	c.2717G>A	p.G906E	Missense	18/18	-	1
19-5692207-C-A	c.2716G>T	p.G906W	Missense	18/18	-	2
19-5692207-C-G	c.2716G>C	p.G906R	Missense	18/18	-	1
19-5692207-C-T	c.2716G>A	p.G906R	Missense	18/18	-	1
19-5692209-G-A	c.2714C>T	p.A905V	Missense	18/18	-	1
19-5692210-C-A	c.2713G>T	p.A905S	Missense	18/18	-	1
19-5692210-C-T	c.2713G>A	p.A905T	Missense	18/18	-	1
19-5692211-G-A	c.2712C>T	p.R904=	Synonymous	18/18	-	1
19-5692211-G-T	c.2712C>A	p.R904=	Synonymous	18/18	-	1
19-5692212-C-T	c.2711G>A	p.R904H	Missense	18/18	-	3
19-5692213-G-A	c.2710C>T	p.R904C	Missense	18/18	-	2
19-5692213-G-C	c.2710C>G	p.R904G	Missense	18/18	-	1
19-5692215-T-G	c.2708A>C	p.K903T	Missense	18/18	-	1
19-5692216-T-C	c.2707A>G	p.K903E	Missense	18/18	-	2
19-5692218-G-A	c.2705C>T	p.A902V	Missense	18/18	-	1
19-5692235-G-T	c.2704-16C>A	-	IntronicSNV	-	17/17	1
19-5692311-G-C	c.2704-92C>G	-	IntronicSNV	-	17/17	3
19-5693309-C-T	c.2703G>A	p.A901=	Synonymous	17/18	-	1
19-5693310-G-A	c.2702C>T	p.A901V	Missense	17/18	-	1
19-5693316-G-A	c.2696C>T	p.T899I	Missense	17/18	-	1
19-5693319-T-G	c.2693A>C	p.K898T	Missense	17/18	-	1
19-5693331-C-A	c.2681G>T	p.G894V	Missense	17/18	-	2
19-5693331-C-T	c.2681G>A	p.G894D	Missense	17/18	-	1
19-5693334-C-G	c.2678G>C	p.G893A	Missense	17/18	-	1
19-5693341-G-A	c.2671C>T	p.P891S	Missense	17/18	-	1
19-5693346-ATCT-A	c.2663_2665del	p.K888del	InFrameDeletion	17/18	-	1
19-5693354-C-A	c.2658G>T	p.T886=	Synonymous	17/18	-	1
19-5693354-C-G	c.2658G>C	p.T886=	Synonymous	17/18	-	1
19-5693354-C-T	c.2658G>A	p.T886=	Synonymous	17/18	-	2
19-5693355-G-A	c.2657C>T	p.T886M	Missense	17/18	-	3
19-5693359-G-T	c.2653C>A	p.L885I	Missense	17/18	-	1
19-5693361-G-A	c.2651C>T	p.S884F	Missense	17/18	-	1
19-5693367-T-G	c.2645A>C	p.E882A	Missense	17/18	-	1
19-5693368-C-A	c.2644G>T	p.E882*	Nonsense	17/18	-	1
19-5693368-C-T	c.2644G>A	p.E882K	Missense	17/18	-	1
19-5693369-G-A	c.2643C>T	p.G881=	Synonymous	17/18	-	1
19-5693369-G-C	c.2643C>G	p.G881=	Synonymous	17/18	-	1
19-5693369-G-T	c.2643C>A	p.G881=	Synonymous	17/18	-	1
19-5693376-A-G	c.2636T>C	p.M879T	Missense	17/18	-	1
19-5693378-G-A	c.2634C>T	p.A878=	Synonymous	17/18	-	1
19-5693378-G-C	c.2634C>G	p.A878=	Synonymous	17/18	-	1
19-5693378-G-T	c.2634C>A	p.A878=	Synonymous	17/18	-	1
19-5693379-G-C	c.2633C>G	p.A878G	Missense	17/18	-	2
19-5693381-C-A	c.2631G>T	p.L877=	Synonymous	17/18	-	1
19-5693385-T-C	c.2627A>G	p.N876S	Missense	17/18	-	1
19-5693391-C-A	c.2621G>T	p.R874L	Missense	17/18	-	1
19-5693400-CT-TA	c.2611_2612delinsTA	p.R871*	Nonsense	17/18	-	1
19-5693415-G-A	c.2597C>T	p.S866F	Missense	17/18	-	1
19-5693425-C-T	c.2587G>A	p.A863T	Missense	17/18	-	1
19-5693426-C-A	c.2586G>T	p.T862=	Synonymous	17/18	-	1
19-5693426-C-T	c.2586G>A	p.T862=	Synonymous	17/18	-	1
19-5693431-C-T	c.2581G>A	p.V861I	Missense	17/18	-	1
19-5693432-G-A	c.2580C>T	p.I860=	Synonymous	17/18	-	3
19-5693432-G-T	c.2580C>A	p.I860=	Synonymous	17/18	-	1
19-5693433-A-G	c.2579T>C	p.I860T	Missense	17/18	-	1
19-5693436-G-A	c.2576C>T	p.T859I	Missense	17/18	-	1
19-5693446-C-T	c.2566G>A	p.A856T	Missense	17/18	-	3
19-5693447-G-A	c.2565C>T	p.S855=	Synonymous	17/18	-	2
19-5693448-C-G	c.2564G>C	p.S855T	Missense	17/18	-	1
19-5693448-CT-GC	c.2563_2564delinsGC	p.S855A	Missense	17/18	-	5
19-5693452-G-A	c.2560C>T	p.P854S	Missense	17/18	-	1
19-5693454-C-A	c.2558G>T	p.G853V	Missense	17/18	-	1
19-5693455-C-A	c.2557G>T	p.G853C	Missense	17/18	-	1
19-5693455-C-T	c.2557G>A	p.G853S	Missense	17/18	-	1
19-5693463-G-A	c.2549C>T	p.P850L	Missense	17/18	-	1
19-5693469-G-A	c.2543C>T	p.A848V	Missense	17/18	-	1
19-5693470-C-T	c.2542G>A	p.A848T	Missense	17/18	-	2
19-5693471-G-A	c.2541C>T	p.G847=	Synonymous	17/18	-	2
19-5693471-G-C	c.2541C>G	p.G847=	Synonymous	17/18	-	1
19-5693471-G-T	c.2541C>A	p.G847=	Synonymous	17/18	-	1
19-5693473-C-T	c.2539G>A	p.G847S	Missense	17/18	-	1
19-5693555-G-A	c.2538+8C>T	-	IntronicSNV	-	16/17	1
19-5693555-G-T	c.2538+8C>A	-	IntronicSNV	-	16/17	1
19-5693563-C-T	c.2538G>A	p.E846=	Synonymous	16/18	-	3
19-5693565-C-T	c.2536G>A	p.E846K	Missense	16/18	-	1
19-5693568-G-A	c.2533C>T	p.P845S	Missense	16/18	-	1
19-5693581-G-T	c.2520C>A	p.I840=	Synonymous	16/18	-	1
19-5693588-G-A	c.2513C>T	p.S838L	Missense	16/18	-	1
19-5693588-G-C	c.2513C>G	p.S838*	Nonsense	16/18	-	1
19-5693589-A-T	c.2512T>A	p.S838T	Missense	16/18	-	1
19-5693601-A-G	c.2500T>C	p.Y834H	Missense	16/18	-	2
19-5693605-A-G	c.2496T>C	p.N832=	Synonymous	16/18	-	1
19-5693606-T-C	c.2495A>G	p.N832S	Missense	16/18	-	2
19-5693610-C-A	c.2491G>T	p.A831S	Missense	16/18	-	1
19-5693610-C-T	c.2491G>A	p.A831T	Missense	16/18	-	2
19-5693610-CG-C	c.2490del	p.A831Pfs*6	Frameshift	16/18	-	1
19-5693615-G-A	c.2486C>T	p.A829V	Missense	16/18	-	2
19-5693616-C-T	c.2485G>A	p.A829T	Missense	16/18	-	14
19-5693617-G-A	c.2484C>T	p.H828=	Synonymous	16/18	-	1
19-5693619-G-A	c.2482C>T	p.H828Y	Missense	16/18	-	2
19-5693622-G-A	c.2479C>T	p.Q827*	Nonsense	16/18	-	1
19-5693633-G-A	c.2468C>T	p.A823V	Missense	16/18	-	1
19-5693634-C-T	c.2467G>A	p.A823T	Missense	16/18	-	1
19-5693638-G-A	c.2463C>T	p.A821=	Synonymous	16/18	-	2
19-5693638-G-C	c.2463C>G	p.A821=	Synonymous	16/18	-	1
19-5693638-G-T	c.2463C>A	p.A821=	Synonymous	16/18	-	1
19-5693639-G-C	c.2462C>G	p.A821G	Missense	16/18	-	1
19-5693650-G-A	c.2451C>T	p.A817=	Synonymous	16/18	-	1
19-5693650-G-C	c.2451C>G	p.A817=	Synonymous	16/18	-	1
19-5693650-G-T	c.2451C>A	p.A817=	Synonymous	16/18	-	1
19-5693651-G-C	c.2450C>G	p.A817G	Missense	16/18	-	1
19-5693652-C-T	c.2449G>A	p.A817T	Missense	16/18	-	1
19-5693656-G-A	c.2445C>T	p.R815=	Synonymous	16/18	-	1
19-5693656-G-C	c.2445C>G	p.R815=	Synonymous	16/18	-	1
19-5693656-G-T	c.2445C>A	p.R815=	Synonymous	16/18	-	1
19-5693657-CG-GT	c.2443_2444delinsAC	p.R815T	Missense	16/18	-	1
19-5693657-C-T	c.2444G>A	p.R815H	Missense	16/18	-	1
19-5693658-G-T	c.2443C>A	p.R815S	Missense	16/18	-	1
19-5693662-G-A	c.2439C>T	p.S813=	Synonymous	16/18	-	3
19-5693672-A-G	c.2429T>C	p.M810T	Missense	16/18	-	1
19-5693675-A-G	c.2426T>C	p.V809A	Missense	16/18	-	1
19-5693680-C-G	c.2421G>C	p.G807=	Synonymous	16/18	-	1
19-5693681-C-T	c.2420G>A	p.G807E	Missense	16/18	-	1
19-5693682-C-T	c.2419G>A	p.G807R	Missense	16/18	-	1
19-5693684-A-G	c.2417T>C	p.L806P	Missense	16/18	-	2
19-5693689-G-A	c.2412C>T	p.G804=	Synonymous	16/18	-	1
19-5693692-TGT-ACA	c.2407_2409inv	p.T803C	Missense	16/18	-	1
19-5693699-T-C	c.2402A>G	p.E801G	Missense	16/18	-	1
19-5693701-C-T	c.2400G>A	p.L800=	Synonymous	16/18	-	1
19-5693709-C-T	c.2392G>A	p.G798S	Missense	16/18	-	3
19-5693712-C-T	c.2389G>A	p.D797N	Missense	16/18	-	1
19-5693715-T-C	c.2386A>G	p.K796E	Missense	16/18	-	1
19-5693720-C-T	c.2381G>A	p.G794D	Missense	16/18	-	1
19-5693734-G-A	c.2367C>T	p.D789=	Synonymous	16/18	-	1
19-5693740-T-A	c.2361A>T	p.P787=	Synonymous	16/18	-	1
19-5693740-T-C	c.2361A>G	p.P787=	Synonymous	16/18	-	1
19-5693740-T-G	c.2361A>C	p.P787=	Synonymous	16/18	-	1
19-5693742-G-T	c.2359C>A	p.P787T	Missense	16/18	-	1
19-5693744-CG-AT	c.2356_2357delinsAT	p.R786M	Missense	16/18	-	1
19-5693744-C-T	c.2357G>A	p.R786Q	Missense	16/18	-	2
19-5693745-G-A	c.2356C>T	p.R786W	Missense	16/18	-	2
19-5693748-T-C	c.2353A>G	p.R785G	Missense	16/18	-	1
19-5693771-G-A	c.2330C>T	p.T777M	Missense	16/18	-	1
19-5693771-G-T	c.2330C>A	p.T777K	Missense	16/18	-	1
19-5693775-A-T	c.2326T>A	p.S776T	Missense	16/18	-	1
19-5693777-C-G	c.2324G>C	p.G775A	Missense	16/18	-	1
19-5694231-C-G	c.2320+167G>C	-	IntronicSNV	-	15/17	1
19-5694261-C-T	c.2320+137G>A	-	IntronicSNV	-	15/17	1
19-5694276-C-T	c.2320+122G>A	-	IntronicSNV	-	15/17	1
19-5694280-C-A	c.2320+118G>T	-	IntronicSNV	-	15/17	1
19-5694280-C-G	c.2320+118G>C	-	IntronicSNV	-	15/17	1
19-5694280-C-T	c.2320+118G>A	-	IntronicSNV	-	15/17	1
19-5694332-G-A	c.2320+66C>T	-	IntronicSNV	-	15/17	1
19-5694349-G-A	c.2320+49C>T	-	IntronicSNV	-	15/17	1
19-5694349-G-T	c.2320+49C>A	-	IntronicSNV	-	15/17	1
19-5694361-G-A	c.2320+37C>T	-	IntronicSNV	-	15/17	1
19-5694402-T-A	c.2316A>T	p.A772=	Synonymous	15/18	-	1
19-5694402-T-C	c.2316A>G	p.A772=	Synonymous	15/18	-	1
19-5694402-T-G	c.2316A>C	p.A772=	Synonymous	15/18	-	1
19-5694403-G-A	c.2315C>T	p.A772V	Missense	15/18	-	1
19-5694404-C-A	c.2314G>T	p.A772S	Missense	15/18	-	1
19-5694412-G-C	c.2306C>G	p.A769G	Missense	15/18	-	1
19-5694418-C-T	c.2300G>A	p.G767E	Missense	15/18	-	4
19-5694423-G-A	c.2295C>T	p.V765=	Synonymous	15/18	-	1
19-5694423-G-C	c.2295C>G	p.V765=	Synonymous	15/18	-	1
19-5694423-G-T	c.2295C>A	p.V765=	Synonymous	15/18	-	1
19-5694425-C-T	c.2293G>A	p.V765I	Missense	15/18	-	1
19-5694426-CAC-GAT	c.2290_2292delinsATC	p.V764I	Missense	15/18	-	1
19-5694428-C-T	c.2290G>A	p.V764M	Missense	15/18	-	1
19-5694431-C-T	c.2287G>A	p.G763S	Missense	15/18	-	2
19-5694435-C-A	c.2283G>T	p.P761=	Synonymous	15/18	-	1
19-5694435-C-G	c.2283G>C	p.P761=	Synonymous	15/18	-	1
19-5694435-C-T	c.2283G>A	p.P761=	Synonymous	15/18	-	1
19-5694436-G-A	c.2282C>T	p.P761L	Missense	15/18	-	3
19-5694439-G-A	c.2279C>T	p.T760I	Missense	15/18	-	1
19-5694443-C-T	c.2275G>A	p.V759M	Missense	15/18	-	1
19-5694444-G-T	c.2274C>A	p.D758E	Missense	15/18	-	1
19-5694446-C-T	c.2272G>A	p.D758N	Missense	15/18	-	1
19-5694450-C-A	c.2268G>T	p.M756I	Missense	15/18	-	1
19-5694452-T-A	c.2266A>T	p.M756L	Missense	15/18	-	1
19-5694452-T-G	c.2266A>C	p.M756L	Missense	15/18	-	1
19-5694453-G-A	c.2265C>T	p.R755=	Synonymous	15/18	-	1
19-5694453-G-C	c.2265C>G	p.R755=	Synonymous	15/18	-	1
19-5694453-G-T	c.2265C>A	p.R755=	Synonymous	15/18	-	1
19-5694454-C-T	c.2264G>A	p.R755H	Missense	15/18	-	3
19-5694455-G-A	c.2263C>T	p.R755C	Missense	15/18	-	1
19-5694455-G-C	c.2263C>G	p.R755G	Missense	15/18	-	2
19-5694458-C-G	c.2260G>C	p.E754Q	Missense	15/18	-	1
19-5694461-C-T	c.2257G>A	p.V753M	Missense	15/18	-	2
19-5694465-G-A	c.2253C>T	p.F751=	Synonymous	15/18	-	1
19-5694468-C-A	c.2250G>T	p.V750=	Synonymous	15/18	-	1
19-5694468-C-G	c.2250G>C	p.V750=	Synonymous	15/18	-	1
19-5694468-C-T	c.2250G>A	p.V750=	Synonymous	15/18	-	1
19-5694470-C-A	c.2248G>T	p.V750L	Missense	15/18	-	1
19-5694470-C-G	c.2248G>C	p.V750L	Missense	15/18	-	1
19-5694470-C-T	c.2248G>A	p.V750M	Missense	15/18	-	2
19-5694471-G-A	c.2247C>T	p.P749=	Synonymous	15/18	-	1
19-5694471-G-C	c.2247C>G	p.P749=	Synonymous	15/18	-	1
19-5694471-G-T	c.2247C>A	p.P749=	Synonymous	15/18	-	1
19-5694473-G-A	c.2245C>T	p.P749S	Missense	15/18	-	6
19-5694478-C-T	c.2240G>A	p.G747E	Missense	15/18	-	1
19-5694482-C-T	c.2236G>A	p.V746M	Missense	15/18	-	5
19-5694492-C-A	c.2226G>T	p.L742=	Synonymous	15/18	-	1
19-5694492-C-G	c.2226G>C	p.L742=	Synonymous	15/18	-	1
19-5694492-C-T	c.2226G>A	p.L742=	Synonymous	15/18	-	1
19-5694494-G-A	c.2224C>T	p.L742=	Synonymous	15/18	-	1
19-5694495-G-T	c.2223C>A	p.N741K	Missense	15/18	-	1
19-5694500-C-T	c.2218G>A	p.E740K	Missense	15/18	-	2
19-5694505-G-A	c.2213C>T	p.T738M	Missense	15/18	-	6
19-5694507-CAC-GAT	c.2209_2211delinsATC	p.V737I	Missense	15/18	-	1
19-5694515-C-T	c.2203G>A	p.V735M	Missense	15/18	-	1
19-5694516-G-A	c.2202C>T	p.S734=	Synonymous	15/18	-	1
19-5694520-T-C	c.2198A>G	p.E733G	Missense	15/18	-	1
19-5694521-C-G	c.2197G>C	p.E733Q	Missense	15/18	-	1
19-5694521-C-T	c.2197G>A	p.E733K	Missense	15/18	-	8
19-5694525-C-A	c.2193G>T	p.E731D	Missense	15/18	-	1
19-5694525-C-G	c.2193G>C	p.E731D	Missense	15/18	-	1
19-5694527-C-T	c.2191G>A	p.E731K	Missense	15/18	-	1
19-5694529-C-G	c.2189G>C	p.G730A	Missense	15/18	-	1
19-5694530-C-G	c.2188G>C	p.G730R	Missense	15/18	-	1
19-5694532-C-G	c.2186G>C	p.S729T	Missense	15/18	-	1
19-5694533-T-C	c.2185A>G	p.S729G	Missense	15/18	-	1
19-5694543-G-A	c.2175C>T	p.Y725=	Synonymous	15/18	-	1
19-5694547-G-A	c.2171C>T	p.A724V	Missense	15/18	-	6
19-5694550-G-A	c.2168C>T	p.S723L	Missense	15/18	-	1
19-5694554-T-G	c.2164A>C	p.K722Q	Missense	15/18	-	1
19-5694556-C-A	c.2162G>T	p.R721L	Missense	15/18	-	1
19-5694556-C-T	c.2162G>A	p.R721Q	Missense	15/18	-	1
19-5694557-G-A	c.2161C>T	p.R721W	Missense	15/18	-	2
19-5694557-G-C	c.2161C>G	p.R721G	Missense	15/18	-	14
19-5694558-T-C	c.2160A>G	p.L720=	Synonymous	15/18	-	1
19-5694560-A-G	c.2158T>C	p.L720=	Synonymous	15/18	-	1
19-5694563-C-T	c.2155G>A	p.V719M	Missense	15/18	-	1
19-5694630-C-G	c.2155-67G>C	-	IntronicSNV	-	14/17	4
19-5694630-C-T	c.2155-67G>A	-	IntronicSNV	-	14/17	4
19-5694649-C-T	c.2155-86G>A	-	IntronicSNV	-	14/17	1
19-5694773-T-C	c.2153A>G	p.K718R	Missense	14/18	-	1
19-5694775-C-A	c.2151G>T	p.E717D	Missense	14/18	-	1
19-5694777-C-T	c.2149G>A	p.E717K	Missense	14/18	-	1
19-5694778-C-T	c.2148G>A	p.V716=	Synonymous	14/18	-	1
19-5694781-T-G	c.2145A>C	p.Q715H	Missense	14/18	-	1
19-5694784-C-G	c.2142G>C	p.K714N	Missense	14/18	-	1
19-5694784-C-T	c.2142G>A	p.K714=	Synonymous	14/18	-	1
19-5694792-G-A	c.2134C>T	p.L712=	Synonymous	14/18	-	1
19-5694796-GC-TT	c.2129_2130delinsAA	p.R710Q	Missense	14/18	-	1
19-5694799-G-A	c.2127C>T	p.V709=	Synonymous	14/18	-	1
19-5694799-G-C	c.2127C>G	p.V709=	Synonymous	14/18	-	1
19-5694799-G-T	c.2127C>A	p.V709=	Synonymous	14/18	-	1
19-5694801-C-T	c.2125G>A	p.V709I	Missense	14/18	-	2
19-5694805-G-A	c.2121C>T	p.S707=	Synonymous	14/18	-	1
19-5694810-C-T	c.2116G>A	p.E706K	Missense	14/18	-	3
19-5694811-G-A	c.2115C>T	p.R705=	Synonymous	14/18	-	1
19-5694811-G-C	c.2115C>G	p.R705=	Synonymous	14/18	-	1
19-5694811-G-T	c.2115C>A	p.R705=	Synonymous	14/18	-	1
19-5694812-C-A	c.2114G>T	p.R705L	Missense	14/18	-	2
19-5694812-C-T	c.2114G>A	p.R705H	Missense	14/18	-	2
19-5694814-G-A	c.2112C>T	p.C704=	Synonymous	14/18	-	1
19-5694817-GTAC-G	c.2106_2108del	p.Q702_Y703delinsH	MultiAAMissense	14/18	-	1
19-5694819-A-T	c.2107T>A	p.Y703N	Missense	14/18	-	1
19-5694821-T-C	c.2105A>G	p.Q702R	Missense	14/18	-	1
19-5694824-T-C	c.2102A>G	p.K701R	Missense	14/18	-	2
19-5694831-G-C	c.2095C>G	p.L699V	Missense	14/18	-	1
19-5694832-C-A	c.2094G>T	p.L698=	Synonymous	14/18	-	1
19-5694832-C-G	c.2094G>C	p.L698=	Synonymous	14/18	-	1
19-5694832-C-T	c.2094G>A	p.L698=	Synonymous	14/18	-	1
19-5694834-G-A	c.2092C>T	p.L698=	Synonymous	14/18	-	1
19-5694844-G-A	c.2082C>T	p.D694=	Synonymous	14/18	-	4
19-5694847-C-A	c.2079G>T	p.S693=	Synonymous	14/18	-	2
19-5694847-C-G	c.2079G>C	p.S693=	Synonymous	14/18	-	2
19-5694847-C-T	c.2079G>A	p.S693=	Synonymous	14/18	-	2
19-5694848-G-A	c.2078C>T	p.S693L	Missense	14/18	-	1
19-5694851-G-A	c.2075C>T	p.S692L	Missense	14/18	-	2
19-5694862-C-T	c.2064G>A	p.K688=	Synonymous	14/18	-	2
19-5694868-C-A	c.2058G>T	p.E686D	Missense	14/18	-	1
19-5694868-C-T	c.2058G>A	p.E686=	Synonymous	14/18	-	1
19-5694873-C-T	c.2053G>A	p.D685N	Missense	14/18	-	1
19-5694878-C-G	c.2048G>C	p.G683A	Missense	14/18	-	1
19-5694878-C-T	c.2048G>A	p.G683D	Missense	14/18	-	3
19-5694880-ACA-CTC	c.2044_2046delinsGAG	p.C682E	Missense	14/18	-	1
19-5694880-A-T	c.2046T>A	p.C682*	Nonsense	14/18	-	1
19-5694881-CA-GC	c.2044_2045delinsGC	p.C682A	Missense	14/18	-	1
19-5694881-C-T	c.2045G>A	p.C682Y	Missense	14/18	-	1
19-5694883-C-A	c.2043G>T	p.L681=	Synonymous	14/18	-	1
19-5694883-C-G	c.2043G>C	p.L681=	Synonymous	14/18	-	1
19-5694883-C-T	c.2043G>A	p.L681=	Synonymous	14/18	-	1
19-5694885-G-A	c.2041C>T	p.L681=	Synonymous	14/18	-	1
19-5694888-C-T	c.2038G>A	p.A680T	Missense	14/18	-	2
19-5694889-G-A	c.2037C>T	p.R679=	Synonymous	14/18	-	2
19-5694889-G-C	c.2037C>G	p.R679=	Synonymous	14/18	-	2
19-5694889-G-T	c.2037C>A	p.R679=	Synonymous	14/18	-	2
19-5694890-C-T	c.2036G>A	p.R679H	Missense	14/18	-	9
19-5694891-G-A	c.2035C>T	p.R679C	Missense	14/18	-	1
19-5694894-C-A	c.2032G>T	p.A678S	Missense	14/18	-	1
19-5694895-C-A	c.2031G>T	p.Q677H	Missense	14/18	-	1
19-5694898-G-A	c.2028C>T	p.P676=	Synonymous	14/18	-	3
19-5694898-G-C	c.2028C>G	p.P676=	Synonymous	14/18	-	2
19-5694898-G-T	c.2028C>A	p.P676=	Synonymous	14/18	-	2
19-5694900-G-A	c.2026C>T	p.P676S	Missense	14/18	-	9
19-5694901-C-A	c.2025G>T	p.V675=	Synonymous	14/18	-	1
19-5694901-C-G	c.2025G>C	p.V675=	Synonymous	14/18	-	1
19-5694901-C-T	c.2025G>A	p.V675=	Synonymous	14/18	-	1
19-5694903-C-A	c.2023G>T	p.V675L	Missense	14/18	-	7
19-5694903-C-G	c.2023G>C	p.V675L	Missense	14/18	-	11
19-5694903-C-T	c.2023G>A	p.V675M	Missense	14/18	-	1
19-5694907-G-A	c.2019C>T	p.Y673=	Synonymous	14/18	-	1
19-5694910-G-T	c.2016C>A	p.R672=	Synonymous	14/18	-	1
19-5694911-C-T	c.2015G>A	p.R672H	Missense	14/18	-	3
19-5694912-G-A	c.2014C>T	p.R672C	Missense	14/18	-	10
19-5695085-GC-G	c.2014-174del	-	IntronicDeletion	-	13/17	1
19-5695946-C-CCG	c.2013+117_2013+118dup	-	IntronicInsertion	-	13/17	1
19-5695946-C-CCGG	c.2013+118_2013+119insCCG	-	IntronicInsertion	-	13/17	2
19-5695947-C-CG	c.2013+117dup	-	IntronicInsertion	-	13/17	1
19-5695947-C-CGGG	c.2013+117_2013+118insCCC	-	IntronicInsertion	-	13/17	1
19-5695947-C-CGGT	c.2013+117_2013+118insACC	-	IntronicInsertion	-	13/17	1
19-5696055-CTGGGCTTACCTCCGCAA-C	c.2006_2013+9del	-	SpliceDonorDeletion	13/18	13/17	1
19-5696067-C-A	c.2011G>T	p.E671*	Nonsense	13/18	-	1
19-5696067-C-T	c.2011G>A	p.E671K	Missense	13/18	-	1
19-5696068-C-G	c.2010G>C	p.A670=	Synonymous	13/18	-	1
19-5696069-G-A	c.2009C>T	p.A670V	Missense	13/18	-	5
19-5696070-C-A	c.2008G>T	p.A670S	Missense	13/18	-	1
19-5696073-T-C	c.2005A>G	p.I669V	Missense	13/18	-	1
19-5696075-G-A	c.2003C>T	p.A668V	Missense	13/18	-	2
19-5696076-C-T	c.2002G>A	p.A668T	Missense	13/18	-	2
19-5696082-TCTC-T	c.1993_1995del	p.E665del	InFrameDeletion	13/18	-	1
19-5696089-G-A	c.1989C>T	p.A663=	Synonymous	13/18	-	1
19-5696090-G-A	c.1988C>T	p.A663V	Missense	13/18	-	1
19-5696093-A-C	c.1985T>G	p.V662G	Missense	13/18	-	3
19-5696094-C-T	c.1984G>A	p.V662M	Missense	13/18	-	2
19-5696095-G-A	c.1983C>T	p.Y661=	Synonymous	13/18	-	1
19-5696098-G-A	c.1980C>T	p.G660=	Synonymous	13/18	-	1
19-5696098-G-C	c.1980C>G	p.G660=	Synonymous	13/18	-	1
19-5696098-G-T	c.1980C>A	p.G660=	Synonymous	13/18	-	1
19-5696099-C-T	c.1979G>A	p.G660D	Missense	13/18	-	1
19-5696101-C-A	c.1977G>T	p.S659=	Synonymous	13/18	-	6
19-5696101-C-G	c.1977G>C	p.S659=	Synonymous	13/18	-	1
19-5696101-C-T	c.1977G>A	p.S659=	Synonymous	13/18	-	8
19-5696102-GA-CC	c.1975_1976delinsGG	p.S659G	Missense	13/18	-	5
19-5696103-A-G	c.1975T>C	p.S659P	Missense	13/18	-	1
19-5696104-CAC-GAT	c.1972_1974delinsATC	p.V658I	Missense	13/18	-	1
19-5696105-AC-TT	c.1972_1973delinsAA	p.V658K	Missense	13/18	-	1
19-5696106-C-A	c.1972G>T	p.V658L	Missense	13/18	-	2
19-5696106-C-G	c.1972G>C	p.V658L	Missense	13/18	-	2
19-5696107-G-A	c.1971C>T	p.N657=	Synonymous	13/18	-	1
19-5696108-T-C	c.1970A>G	p.N657S	Missense	13/18	-	2
19-5696113-C-G	c.1965G>C	p.M655I	Missense	13/18	-	1
19-5696114-A-G	c.1964T>C	p.M655T	Missense	13/18	-	1
19-5696116-C-A	c.1962G>T	p.E654D	Missense	13/18	-	1
19-5696116-C-G	c.1962G>C	p.E654D	Missense	13/18	-	1
19-5696122-ACG-CAT	c.1954_1956delinsATG	p.R652M	Missense	13/18	-	1
19-5696125-G-C	c.1953C>G	p.D651E	Missense	13/18	-	2
19-5696130-G-A	c.1948C>T	p.R650*	Nonsense	13/18	-	1
19-5696131-C-T	c.1947G>A	p.L649=	Synonymous	13/18	-	1
19-5696135-G-A	c.1943C>T	p.P648L	Missense	13/18	-	2
19-5696136-G-C	c.1942C>G	p.P648A	Missense	13/18	-	1
19-5696139-C-G	c.1939G>C	p.E647Q	Missense	13/18	-	1
19-5696139-C-T	c.1939G>A	p.E647K	Missense	13/18	-	1
19-5696146-G-A	c.1932C>T	p.T644=	Synonymous	13/18	-	18
19-5696147-G-A	c.1931C>T	p.T644I	Missense	13/18	-	1
19-5696148-T-C	c.1930A>G	p.T644A	Missense	13/18	-	3
19-5696152-C-A	c.1926G>T	p.T642=	Synonymous	13/18	-	1
19-5696152-C-G	c.1926G>C	p.T642=	Synonymous	13/18	-	1
19-5696152-C-T	c.1926G>A	p.T642=	Synonymous	13/18	-	1
19-5696153-G-A	c.1925C>T	p.T642M	Missense	13/18	-	4
19-5696153-G-C	c.1925C>G	p.T642R	Missense	13/18	-	1
19-5696154-T-C	c.1924A>G	p.T642A	Missense	13/18	-	1
19-5696157-C-A	c.1921G>T	p.V641F	Missense	13/18	-	1
19-5696157-C-T	c.1921G>A	p.V641I	Missense	13/18	-	10
19-5696158-G-A	c.1920C>T	p.N640=	Synonymous	13/18	-	1
19-5696158-G-T	c.1920C>A	p.N640K	Missense	13/18	-	1
19-5696163-C-T	c.1915G>A	p.A639T	Missense	13/18	-	2
19-5696164-C-T	c.1914G>A	p.T638=	Synonymous	13/18	-	1
19-5696165-G-A	c.1913C>T	p.T638M	Missense	13/18	-	4
19-5696168-CA-AC	c.1909_1910delinsGT	p.C637V	Missense	13/18	-	1
19-5696168-C-G	c.1910G>C	p.C637S	Missense	13/18	-	1
19-5696169-A-C	c.1909T>G	p.C637G	Missense	13/18	-	1
19-5696169-A-T	c.1909T>A	p.C637S	Missense	13/18	-	1
19-5696170-G-C	c.1908C>G	p.I636M	Missense	13/18	-	2
19-5696171-A-G	c.1907T>C	p.I636T	Missense	13/18	-	1
19-5696173-G-A	c.1905C>T	p.F635=	Synonymous	13/18	-	1
19-5696173-G-C	c.1905C>G	p.F635L	Missense	13/18	-	2
19-5696173-G-T	c.1905C>A	p.F635L	Missense	13/18	-	1
19-5696175-A-G	c.1903T>C	p.F635L	Missense	13/18	-	1
19-5696175-A-T	c.1903T>A	p.F635I	Missense	13/18	-	3
19-5696181-C-G	c.1897G>C	p.V633L	Missense	13/18	-	2
19-5696181-C-T	c.1897G>A	p.V633M	Missense	13/18	-	1
19-5696245-A-G	c.1896+15T>C	-	IntronicSNV	-	12/17	7
19-5696262-T-C	c.1894A>G	p.K632E	Missense	12/18	-	1
19-5696264-G-T	c.1892C>A	p.S631Y	Missense	12/18	-	6
19-5696267-A-G	c.1889T>C	p.L630S	Missense	12/18	-	1
19-5696269-G-A	c.1887C>T	p.D629=	Synonymous	12/18	-	3
19-5696272-C-A	c.1884G>T	p.V628=	Synonymous	12/18	-	1
19-5696272-C-G	c.1884G>C	p.V628=	Synonymous	12/18	-	1
19-5696272-C-T	c.1884G>A	p.V628=	Synonymous	12/18	-	1
19-5696274-C-T	c.1882G>A	p.V628M	Missense	12/18	-	2
19-5696276-G-A	c.1880C>T	p.P627L	Missense	12/18	-	1
19-5696277-G-A	c.1879C>T	p.P627S	Missense	12/18	-	1
19-5696280-C-T	c.1876G>A	p.V626M	Missense	12/18	-	4
19-5696282-T-G	c.1874A>C	p.D625A	Missense	12/18	-	1
19-5696286-G-C	c.1870C>G	p.L624V	Missense	12/18	-	1
19-5696292-G-A	c.1864C>T	p.H622Y	Missense	12/18	-	1
19-5696292-G-C	c.1864C>G	p.H622D	Missense	12/18	-	1
19-5696295-C-T	c.1861G>A	p.D621N	Missense	12/18	-	1
19-5696297-A-C	c.1859T>G	p.L620R	Missense	12/18	-	1
19-5696303-T-C	c.1853A>G	p.N618S	Missense	12/18	-	1
19-5696305-G-A	c.1851C>T	p.A617=	Synonymous	12/18	-	1
19-5696305-G-C	c.1851C>G	p.A617=	Synonymous	12/18	-	1
19-5696305-G-T	c.1851C>A	p.A617=	Synonymous	12/18	-	1
19-5696306-G-A	c.1850C>T	p.A617V	Missense	12/18	-	1
19-5696308-A-C	c.1848T>G	p.N616K	Missense	12/18	-	1
19-5696308-A-T	c.1848T>A	p.N616K	Missense	12/18	-	1
19-5696309-T-A	c.1847A>T	p.N616I	Missense	12/18	-	2
19-5696309-T-G	c.1847A>C	p.N616T	Missense	12/18	-	1
19-5696311-C-A	c.1845G>T	p.Q615H	Missense	12/18	-	2
19-5696311-C-G	c.1845G>C	p.Q615H	Missense	12/18	-	1
19-5696313-TG-T	c.1843del	p.Q615Rfs*41	Frameshift	12/18	-	2
19-5696316-C-T	c.1840G>A	p.E614K	Missense	12/18	-	1
19-5696317-T-A	c.1839A>T	p.P613=	Synonymous	12/18	-	1
19-5696317-T-C	c.1839A>G	p.P613=	Synonymous	12/18	-	1
19-5696317-T-G	c.1839A>C	p.P613=	Synonymous	12/18	-	1
19-5696318-G-A	c.1838C>T	p.P613L	Missense	12/18	-	2
19-5696318-G-T	c.1838C>A	p.P613Q	Missense	12/18	-	1
19-5696321-T-G	c.1835A>C	p.D612A	Missense	12/18	-	1
19-5696326-CA-AT	c.1829_1830delinsAT	p.L610H	Missense	12/18	-	1
19-5696332-C-A	c.1824G>T	p.L608=	Synonymous	12/18	-	1
19-5696332-C-G	c.1824G>C	p.L608=	Synonymous	12/18	-	1
19-5696332-C-T	c.1824G>A	p.L608=	Synonymous	12/18	-	1
19-5696334-G-A	c.1822C>T	p.L608=	Synonymous	12/18	-	1
19-5696337-G-A	c.1819C>T	p.L607=	Synonymous	12/18	-	1
19-5696338-T-A	c.1818A>T	p.A606=	Synonymous	12/18	-	2
19-5696338-T-C	c.1818A>G	p.A606=	Synonymous	12/18	-	2
19-5696338-T-G	c.1818A>C	p.A606=	Synonymous	12/18	-	2
19-5696339-G-A	c.1817C>T	p.A606V	Missense	12/18	-	8
19-5696340-C-G	c.1816G>C	p.A606P	Missense	12/18	-	1
19-5696342-G-A	c.1814C>T	p.S605L	Missense	12/18	-	3
19-5696342-G-C	c.1814C>G	p.S605W	Missense	12/18	-	1
19-5696344-C-A	c.1812G>T	p.S604=	Synonymous	12/18	-	1
19-5696344-C-T	c.1812G>A	p.S604=	Synonymous	12/18	-	1
19-5696345-G-A	c.1811C>T	p.S604L	Missense	12/18	-	3
19-5696345-G-C	c.1811C>G	p.S604W	Missense	12/18	-	1
19-5696348-G-A	c.1808C>T	p.P603L	Missense	12/18	-	5
19-5696349-G-A	c.1807C>T	p.P603S	Missense	12/18	-	1
19-5696352-C-T	c.1804G>A	p.D602N	Missense	12/18	-	1
19-5696353-C-A	c.1803G>T	p.G601=	Synonymous	12/18	-	2
19-5696353-C-G	c.1803G>C	p.G601=	Synonymous	12/18	-	2
19-5696353-C-T	c.1803G>A	p.G601=	Synonymous	12/18	-	2
19-5696354-C-T	c.1802G>A	p.G601E	Missense	12/18	-	1
19-5696356-C-A	c.1800G>T	p.Q600H	Missense	12/18	-	1
19-5696356-C-G	c.1800G>C	p.Q600H	Missense	12/18	-	1
19-5696357-T-G	c.1799A>C	p.Q600P	Missense	12/18	-	1
19-5696358-G-A	c.1798C>T	p.Q600*	Nonsense	12/18	-	1
19-5696359-G-T	c.1797C>A	p.Y599*	Nonsense	12/18	-	1
19-5696360-TA-GC	c.1795_1796delinsGC	p.Y599A	Missense	12/18	-	1
19-5696362-G-A	c.1794C>T	p.G598=	Synonymous	12/18	-	1
19-5696364-C-T	c.1792G>A	p.G598S	Missense	12/18	-	1
19-5696366-C-T	c.1790G>A	p.R597Q	Missense	12/18	-	1
19-5696367-G-A	c.1789C>T	p.R597*	Nonsense	12/18	-	1
19-5696368-G-T	c.1788C>A	p.G596=	Synonymous	12/18	-	1
19-5696369-C-T	c.1787G>A	p.G596D	Missense	12/18	-	1
19-5696370-C-T	c.1786G>A	p.G596S	Missense	12/18	-	2
19-5696373-T-C	c.1783A>G	p.I595V	Missense	12/18	-	1
19-5696379-C-T	c.1777G>A	p.D593N	Missense	12/18	-	1
19-5696382-C-T	c.1774G>A	p.V592M	Missense	12/18	-	1
19-5696452-A-G	c.1774-70T>C	-	IntronicSNV	-	11/17	1
19-5696530-G-A	c.1774-148C>T	-	IntronicSNV	-	11/17	1
19-5696681-C-G	c.1773G>C	p.E591D	Missense	11/18	-	1
19-5696682-T-G	c.1772A>C	p.E591A	Missense	11/18	-	3
19-5696683-C-T	c.1771G>A	p.E591K	Missense	11/18	-	3
19-5696687-G-A	c.1767C>T	p.I589=	Synonymous	11/18	-	3
19-5696687-G-T	c.1767C>A	p.I589=	Synonymous	11/18	-	2
19-5696688-A-G	c.1766T>C	p.I589T	Missense	11/18	-	3
19-5696696-CAG-GAT	c.1756_1758delinsATC	p.L586I	Missense	11/18	-	1
19-5696697-A-G	c.1757T>C	p.L586P	Missense	11/18	-	1
19-5696698-G-T	c.1756C>A	p.L586M	Missense	11/18	-	1
19-5696701-G-A	c.1753C>T	p.P585S	Missense	11/18	-	2
19-5696702-G-C	c.1752C>G	p.N584K	Missense	11/18	-	1
19-5696702-G-T	c.1752C>A	p.N584K	Missense	11/18	-	1
19-5696707-C-T	c.1747G>A	p.E583K	Missense	11/18	-	2
19-5696708-C-A	c.1746G>T	p.T582=	Synonymous	11/18	-	4
19-5696708-C-G	c.1746G>C	p.T582=	Synonymous	11/18	-	3
19-5696708-C-T	c.1746G>A	p.T582=	Synonymous	11/18	-	3
19-5696709-G-A	c.1745C>T	p.T582M	Missense	11/18	-	5
19-5696709-G-C	c.1745C>G	p.T582R	Missense	11/18	-	1
19-5696710-T-C	c.1744A>G	p.T582A	Missense	11/18	-	1
19-5696711-C-A	c.1743G>T	p.K581N	Missense	11/18	-	1
19-5696714-G-A	c.1740C>T	p.T580=	Synonymous	11/18	-	4
19-5696714-G-C	c.1740C>G	p.T580=	Synonymous	11/18	-	4
19-5696714-G-T	c.1740C>A	p.T580=	Synonymous	11/18	-	4
19-5696716-T-C	c.1738A>G	p.T580A	Missense	11/18	-	3
19-5696718-T-G	c.1736A>C	p.K579T	Missense	11/18	-	1
19-5696720-C-A	c.1734G>T	p.K578N	Missense	11/18	-	1
19-5696720-C-G	c.1734G>C	p.K578N	Missense	11/18	-	1
19-5696721-T-C	c.1733A>G	p.K578R	Missense	11/18	-	1
19-5696723-C-A	c.1731G>T	p.L577F	Missense	11/18	-	1
19-5696724-AA-GG	c.1729_1730delinsCC	p.L577P	Missense	11/18	-	1
19-5696724-AA-TG	c.1729_1730delinsCA	p.L577Q	Missense	11/18	-	1
19-5696727-CA-AC	c.1726_1727delinsGT	p.C576V	Missense	11/18	-	1
19-5696727-C-G	c.1727G>C	p.C576S	Missense	11/18	-	1
19-5696728-A-T	c.1726T>A	p.C576S	Missense	11/18	-	1
19-5696729-C-A	c.1725G>T	p.Q575H	Missense	11/18	-	2
19-5696730-T-C	c.1724A>G	p.Q575R	Missense	11/18	-	1
19-5696731-G-T	c.1723C>A	p.Q575K	Missense	11/18	-	1
19-5696735-G-A	c.1719C>T	p.I573=	Synonymous	11/18	-	1
19-5696739-T-C	c.1715A>G	p.K572R	Missense	11/18	-	1
19-5696747-C-T	c.1707G>A	p.M569I	Missense	11/18	-	1
19-5696749-T-A	c.1705A>T	p.M569L	Missense	11/18	-	1
19-5696749-T-C	c.1705A>G	p.M569V	Missense	11/18	-	1
19-5696749-T-G	c.1705A>C	p.M569L	Missense	11/18	-	1
19-5696751-G-A	c.1703C>T	p.A568V	Missense	11/18	-	2
19-5696752-C-T	c.1702G>A	p.A568T	Missense	11/18	-	2
19-5696753-G-A	c.1701C>T	p.G567=	Synonymous	11/18	-	1
19-5696753-G-T	c.1701C>A	p.G567=	Synonymous	11/18	-	1
19-5696754-C-T	c.1700G>A	p.G567D	Missense	11/18	-	1
19-5696758-C-T	c.1696G>A	p.V566M	Missense	11/18	-	1
19-5696760-TA-GC	c.1693_1694delinsGC	p.Y565A	Missense	11/18	-	1
19-5696760-T-C	c.1694A>G	p.Y565C	Missense	11/18	-	4
19-5696761-A-G	c.1693T>C	p.Y565H	Missense	11/18	-	7
19-5696766-C-T	c.1688G>A	p.R563Q	Missense	11/18	-	2
19-5696820-A-G	c.1686-52T>C	-	IntronicSNV	-	10/17	2
19-5696867-G-GC	c.1686-100dup	-	IntronicInsertion	-	10/17	1
19-5696962-G-A	c.1686-194C>T	-	IntronicSNV	-	10/17	2
19-5698776-G-C	c.1685+262C>G	-	IntronicSNV	-	10/17	1
19-5698836-T-C	c.1685+202A>G	-	IntronicSNV	-	10/17	1
19-5699026-G-C	c.1685+12C>G	-	IntronicSNV	-	10/17	1
19-5699038-C-A	c.1685G>T	p.R562M	Missense	10/18	-	1
19-5699040-G-A	c.1683C>T	p.H561=	Synonymous	10/18	-	1
19-5699045-C-T	c.1678G>A	p.G560S	Missense	10/18	-	1
19-5699049-G-C	c.1674C>G	p.I558M	Missense	10/18	-	1
19-5699051-T-G	c.1672A>C	p.I558L	Missense	10/18	-	1
19-5699054-C-T	c.1669G>A	p.E557K	Missense	10/18	-	1
19-5699058-C-A	c.1665G>T	p.V555=	Synonymous	10/18	-	1
19-5699058-C-G	c.1665G>C	p.V555=	Synonymous	10/18	-	1
19-5699058-C-T	c.1665G>A	p.V555=	Synonymous	10/18	-	2
19-5699060-C-T	c.1663G>A	p.V555M	Missense	10/18	-	2
19-5699061-G-C	c.1662C>G	p.D554E	Missense	10/18	-	1
19-5699062-T-A	c.1661A>T	p.D554V	Missense	10/18	-	1
19-5699063-C-A	c.1660G>T	p.D554Y	Missense	10/18	-	1
19-5699063-C-G	c.1660G>C	p.D554H	Missense	10/18	-	1
19-5699069-T-C	c.1654A>G	p.M552V	Missense	10/18	-	1
19-5699074-C-A	c.1649G>T	p.G550V	Missense	10/18	-	1
19-5699070-G-GC	c.1652dup	p.M552Hfs*3	Frameshift	10/18	-	1
19-5699078-C-T	c.1645G>A	p.V549I	Missense	10/18	-	3
19-5699079-G-A	c.1644C>T	p.S548=	Synonymous	10/18	-	1
19-5699083-AA-GC	c.1639_1640delinsGC	p.F547A	Missense	10/18	-	1
19-5699084-A-G	c.1639T>C	p.F547L	Missense	10/18	-	1
19-5699086-C-G	c.1637G>C	p.R546P	Missense	10/18	-	1
19-5699086-C-T	c.1637G>A	p.R546H	Missense	10/18	-	7
19-5699087-G-A	c.1636C>T	p.R546C	Missense	10/18	-	1
19-5699087-G-C	c.1636C>G	p.R546G	Missense	10/18	-	3
19-5699090-A-G	c.1633T>C	p.F545L	Missense	10/18	-	1
19-5699092-T-C	c.1631A>G	p.Y544C	Missense	10/18	-	1
19-5699098-C-A	c.1625G>T	p.R542L	Missense	10/18	-	4
19-5699098-C-G	c.1625G>C	p.R542P	Missense	10/18	-	1
19-5699098-C-T	c.1625G>A	p.R542Q	Missense	10/18	-	4
19-5699099-G-A	c.1624C>T	p.R542*	Nonsense	10/18	-	1
19-5699103-C-G	c.1620G>C	p.L540=	Synonymous	10/18	-	1
19-5699104-A-C	c.1619T>G	p.L540R	Missense	10/18	-	2
19-5699105-G-A	c.1618C>T	p.L540=	Synonymous	10/18	-	1
19-5699107-G-A	c.1616C>T	p.A539V	Missense	10/18	-	1
19-5699108-C-T	c.1615G>A	p.A539T	Missense	10/18	-	2
19-5699110-C-T	c.1613G>A	p.R538H	Missense	10/18	-	1
19-5699111-G-A	c.1612C>T	p.R538C	Missense	10/18	-	6
19-5699113-G-A	c.1610C>T	p.A537V	Missense	10/18	-	1
19-5699114-C-T	c.1609G>A	p.A537T	Missense	10/18	-	2
19-5699115-G-A	c.1608C>T	p.I536=	Synonymous	10/18	-	1
19-5699115-G-T	c.1608C>A	p.I536=	Synonymous	10/18	-	1
19-5699115-G-GA	c.1607dup	p.A537Rfs*18	Frameshift	10/18	-	1
19-5699118-GG-TT	c.1604_1605delinsAA	p.S535*	Nonsense	10/18	-	1
19-5699119-G-A	c.1604C>T	p.S535F	Missense	10/18	-	1
19-5699119-G-C	c.1604C>G	p.S535C	Missense	10/18	-	1
19-5699121-GC-TT	c.1601_1602delinsAA	p.R534Q	Missense	10/18	-	1
19-5699122-C-T	c.1601G>A	p.R534H	Missense	10/18	-	1
19-5699123-G-A	c.1600C>T	p.R534C	Missense	10/18	-	3
19-5699133-G-A	c.1590C>T	p.T530=	Synonymous	10/18	-	1
19-5699133-G-C	c.1590C>G	p.T530=	Synonymous	10/18	-	1
19-5699133-G-T	c.1590C>A	p.T530=	Synonymous	10/18	-	1
19-5699134-G-C	c.1589C>G	p.T530S	Missense	10/18	-	1
19-5699137-T-C	c.1586A>G	p.K529R	Missense	10/18	-	2
19-5699137-TT-GC	c.1585_1586delinsGC	p.K529A	Missense	10/18	-	1
19-5699142-CAC-AAA	c.1579_1581delinsTTT	p.V527F	Missense	10/18	-	1
19-5699142-C-G	c.1581G>C	p.V527=	Synonymous	10/18	-	1
19-5699144-C-T	c.1579G>A	p.V527M	Missense	10/18	-	3
19-5699150-G-A	c.1573C>T	p.P525S	Missense	10/18	-	3
19-5699152-G-A	c.1571C>T	p.P524L	Missense	10/18	-	1
19-5699148-A-AG	c.1574dup	p.G526Wfs*4	Frameshift	10/18	-	1
19-5699155-C-G	c.1568G>C	p.G523A	Missense	10/18	-	2
19-5699156-C-T	c.1567G>A	p.G523S	Missense	10/18	-	1
19-5699165-A-T	c.1558T>A	p.C520S	Missense	10/18	-	1
19-5699170-A-T	c.1553T>A	p.I518N	Missense	10/18	-	1
19-5699171-T-C	c.1552A>G	p.I518V	Missense	10/18	-	1
19-5699174-T-C	c.1549A>G	p.K517E	Missense	10/18	-	1
19-5699181-G-A	c.1542C>T	p.T514=	Synonymous	10/18	-	1
19-5699181-G-C	c.1542C>G	p.T514=	Synonymous	10/18	-	1
19-5699181-G-T	c.1542C>A	p.T514=	Synonymous	10/18	-	1
19-5699182-G-A	c.1541C>T	p.T514I	Missense	10/18	-	2
19-5699184-G-A	c.1539C>T	p.S513=	Synonymous	10/18	-	1
19-5699191-C-T	c.1532G>A	p.R511H	Missense	10/18	-	2
19-5699192-G-T	c.1531C>A	p.R511S	Missense	10/18	-	2
19-5699203-A-T	c.1520T>A	p.V507D	Missense	10/18	-	1
19-5699204-C-T	c.1519G>A	p.V507I	Missense	10/18	-	2
19-5699206-G-A	c.1517C>T	p.A506V	Missense	10/18	-	1
19-5699208-A-C	c.1515T>G	p.I505M	Missense	10/18	-	1
19-5699209-A-G	c.1514T>C	p.I505T	Missense	10/18	-	1
19-5699211-G-A	c.1512C>T	p.F504=	Synonymous	10/18	-	2
19-5699212-A-G	c.1511T>C	p.F504S	Missense	10/18	-	1
19-5699211-G-C	c.1512C>G	p.F504L	Missense	10/18	-	1
19-5699211-G-T	c.1512C>A	p.F504L	Missense	10/18	-	1
19-5699213-A-G	c.1510T>C	p.F504L	Missense	10/18	-	1
19-5699216-C-G	c.1507G>C	p.E503Q	Missense	10/18	-	2
19-5699272-G-A	c.1507-56C>T	-	IntronicSNV	-	9/17	1
19-5700675-G-A	c.1506+125C>T	-	IntronicSNV	-	9/17	1
19-5700803-G-A	c.1503C>T	p.I501=	Synonymous	9/18	-	1
19-5700803-G-T	c.1503C>A	p.I501=	Synonymous	9/18	-	1
19-5700804-A-G	c.1502T>C	p.I501T	Missense	9/18	-	1
19-5700806-GCG-CCA	c.1498_1500delinsTGG	p.R500W	Missense	9/18	-	1
19-5700807-C-G	c.1499G>C	p.R500P	Missense	9/18	-	2
19-5700807-C-T	c.1499G>A	p.R500H	Missense	9/18	-	4
19-5700808-G-A	c.1498C>T	p.R500C	Missense	9/18	-	2
19-5700813-T-C	c.1493A>G	p.K498R	Missense	9/18	-	2
19-5700813-T-G	c.1493A>C	p.K498T	Missense	9/18	-	1
19-5700815-G-A	c.1491C>T	p.V497=	Synonymous	9/18	-	1
19-5700815-G-C	c.1491C>G	p.V497=	Synonymous	9/18	-	1
19-5700815-G-T	c.1491C>A	p.V497=	Synonymous	9/18	-	1
19-5700817-C-T	c.1489G>A	p.V497I	Missense	9/18	-	1
19-5700818-G-A	c.1488C>T	p.D496=	Synonymous	9/18	-	2
19-5700823-C-T	c.1483G>A	p.E495K	Missense	9/18	-	2
19-5700824-C-T	c.1482G>A	p.M494I	Missense	9/18	-	2
19-5700825-A-G	c.1481T>C	p.M494T	Missense	9/18	-	1
19-5700829-C-T	c.1477G>A	p.G493S	Missense	9/18	-	5
19-5700830-G-A	c.1476C>T	p.Y492=	Synonymous	9/18	-	1
19-5700834-T-C	c.1472A>G	p.H491R	Missense	9/18	-	1
19-5700840-T-G	c.1466A>C	p.E489A	Missense	9/18	-	1
19-5700841-C-T	c.1465G>A	p.E489K	Missense	9/18	-	1
19-5700844-C-G	c.1462G>C	p.E488Q	Missense	9/18	-	4
19-5700850-C-A	c.1456G>T	p.V486L	Missense	9/18	-	1
19-5700850-C-G	c.1456G>C	p.V486L	Missense	9/18	-	1
19-5700850-C-T	c.1456G>A	p.V486M	Missense	9/18	-	1
19-5700852-G-C	c.1454C>G	p.A485G	Missense	9/18	-	1
19-5700856-G-C	c.1450C>G	p.Q484E	Missense	9/18	-	1
19-5700859-C-T	c.1447G>A	p.A483T	Missense	9/18	-	1
19-5700860-CC-AT	c.1445_1446delinsAT	p.R482H	Missense	9/18	-	1
19-5700861-C-T	c.1445G>A	p.R482Q	Missense	9/18	-	1
19-5700862-G-A	c.1444C>T	p.R482W	Missense	9/18	-	1
19-5700863-C-A	c.1443G>T	p.A481=	Synonymous	9/18	-	1
19-5700863-C-G	c.1443G>C	p.A481=	Synonymous	9/18	-	1
19-5700863-C-T	c.1443G>A	p.A481=	Synonymous	9/18	-	3
19-5700864-G-A	c.1442C>T	p.A481V	Missense	9/18	-	2
19-5700868-G-C	c.1438C>G	p.L480V	Missense	9/18	-	1
19-5700873-A-T	c.1433T>A	p.L478Q	Missense	9/18	-	1
19-5700879-T-G	c.1427A>C	p.E476A	Missense	9/18	-	5
19-5700880-C-T	c.1426G>A	p.E476K	Missense	9/18	-	1
19-5700881-G-A	c.1425C>T	p.N475=	Synonymous	9/18	-	1
19-5700885-C-T	c.1421G>A	p.S474N	Missense	9/18	-	3
19-5700888-T-C	c.1418A>G	p.Y473C	Missense	9/18	-	3
19-5700889-A-T	c.1417T>A	p.Y473N	Missense	9/18	-	1
19-5700894-C-T	c.1412G>A	p.G471D	Missense	9/18	-	1
19-5700900-G-C	c.1406C>G	p.P469R	Missense	9/18	-	1
19-5700904-T-C	c.1402A>G	p.I468V	Missense	9/18	-	1
19-5700906-GA-CC	c.1399_1400delinsGG	p.S467G	Missense	9/18	-	1
19-5700906-G-C	c.1400C>G	p.S467C	Missense	9/18	-	1
19-5700906-G-T	c.1400C>A	p.S467Y	Missense	9/18	-	1
19-5700908-C-A	c.1398G>T	p.T466=	Synonymous	9/18	-	1
19-5700908-C-T	c.1398G>A	p.T466=	Synonymous	9/18	-	1
19-5700909-G-A	c.1397C>T	p.T466M	Missense	9/18	-	2
19-5700914-C-A	c.1392G>T	p.W464C	Missense	9/18	-	1
19-5700914-C-G	c.1392G>C	p.W464C	Missense	9/18	-	2
19-5700914-C-T	c.1392G>A	p.W464*	Nonsense	9/18	-	3
19-5700915-C-T	c.1391G>A	p.W464*	Nonsense	9/18	-	1
19-5700917-G-A	c.1389C>T	p.D463=	Synonymous	9/18	-	1
19-5700919-C-T	c.1387G>A	p.D463N	Missense	9/18	-	1
19-5700924-T-C	c.1382A>G	p.Y461C	Missense	9/18	-	1
19-5700925-A-G	c.1381T>C	p.Y461H	Missense	9/18	-	1
19-5700927-T-C	c.1379A>G	p.N460S	Missense	9/18	-	3
19-5700930-C-G	c.1376G>C	p.R459P	Missense	9/18	-	1
19-5700930-C-T	c.1376G>A	p.R459H	Missense	9/18	-	1
19-5700931-G-C	c.1375C>G	p.R459G	Missense	9/18	-	1
19-5700932-GG-CA	c.1373_1374delinsTG	p.T458M	Missense	9/18	-	1
19-5700935-G-A	c.1371C>T	p.V457=	Synonymous	9/18	-	2
19-5700935-G-C	c.1371C>G	p.V457=	Synonymous	9/18	-	1
19-5700935-G-T	c.1371C>A	p.V457=	Synonymous	9/18	-	1
19-5700937-C-G	c.1369G>C	p.V457L	Missense	9/18	-	1
19-5700937-C-T	c.1369G>A	p.V457I	Missense	9/18	-	1
19-5701050-C-T	c.1368-112G>A	-	IntronicSNV	-	8/17	5
19-5701112-C-G	c.1368-174G>C	-	IntronicSNV	-	8/17	1
19-5705617-T-C	c.1367+166A>G	-	IntronicSNV	-	8/17	1
19-5705647-G-A	c.1367+136C>T	-	IntronicSNV	-	8/17	1
19-5705787-A-G	c.1363T>C	p.F455L	Missense	8/18	-	1
19-5705788-C-T	c.1362G>A	p.E454=	Synonymous	8/18	-	1
19-5705792-G-A	c.1358C>T	p.S453L	Missense	8/18	-	3
19-5705795-G-A	c.1355C>T	p.S452F	Missense	8/18	-	4
19-5705796-A-G	c.1354T>C	p.S452P	Missense	8/18	-	1
19-5705798-T-C	c.1352A>G	p.H451R	Missense	8/18	-	1
19-5705805-C-T	c.1345G>A	p.D449N	Missense	8/18	-	1
19-5705810-A-G	c.1340T>C	p.L447P	Missense	8/18	-	1
19-5705817-G-T	c.1333C>A	p.L445M	Missense	8/18	-	2
19-5705819-T-C	c.1331A>G	p.K444R	Missense	8/18	-	1
19-5705820-T-G	c.1330A>C	p.K444Q	Missense	8/18	-	1
19-5705823-T-C	c.1327A>G	p.S443G	Missense	8/18	-	1
19-5705825-A-G	c.1325T>C	p.L442P	Missense	8/18	-	1
19-5705826-G-C	c.1324C>G	p.L442V	Missense	8/18	-	1
19-5705829-C-A	c.1321G>T	p.E441*	Nonsense	8/18	-	1
19-5705829-C-T	c.1321G>A	p.E441K	Missense	8/18	-	1
19-5705832-C-T	c.1318G>A	p.E440K	Missense	8/18	-	2
19-5705835-C-T	c.1315G>A	p.D439N	Missense	8/18	-	1
19-5705841-C-T	c.1309G>A	p.V437I	Missense	8/18	-	8
19-5705846-A-G	c.1304T>C	p.M435T	Missense	8/18	-	1
19-5705847-T-C	c.1303A>G	p.M435V	Missense	8/18	-	1
19-5705850-C-T	c.1300G>A	p.V434I	Missense	8/18	-	1
19-5705851-G-A	c.1299C>T	p.H433=	Synonymous	8/18	-	1
19-5705851-G-T	c.1299C>A	p.H433Q	Missense	8/18	-	1
19-5705852-T-C	c.1298A>G	p.H433R	Missense	8/18	-	1
19-5705854-C-T	c.1296G>A	p.K432=	Synonymous	8/18	-	1
19-5705855-T-C	c.1295A>G	p.K432R	Missense	8/18	-	1
19-5705860-GAC-CAT	c.1288_1290delinsATG	p.V430M	Missense	8/18	-	1
19-5705862-C-T	c.1288G>A	p.V430I	Missense	8/18	-	2
19-5705865-C-G	c.1285G>C	p.V429L	Missense	8/18	-	1
19-5705867-A-C	c.1283T>G	p.L428R	Missense	8/18	-	2
19-5705868-G-A	c.1282C>T	p.L428F	Missense	8/18	-	1
19-5705869-C-A	c.1281G>T	p.E427D	Missense	8/18	-	1
19-5705870-T-C	c.1280A>G	p.E427G	Missense	8/18	-	1
19-5705878-GCG-CCA	c.1270_1272delinsTGG	p.R424W	Missense	8/18	-	1
19-5705879-C-T	c.1271G>A	p.R424H	Missense	8/18	-	4
19-5705880-G-A	c.1270C>T	p.R424C	Missense	8/18	-	2
19-5705885-C-T	c.1265G>A	p.R422Q	Missense	8/18	-	1
19-5705887-G-C	c.1263C>G	p.F421L	Missense	8/18	-	1
19-5705887-G-T	c.1263C>A	p.F421L	Missense	8/18	-	1
19-5705889-A-G	c.1261T>C	p.F421L	Missense	8/18	-	1
19-5705890-C-A	c.1260G>T	p.K420N	Missense	8/18	-	1
19-5705895-C-G	c.1255G>C	p.E419Q	Missense	8/18	-	1
19-5705895-C-T	c.1255G>A	p.E419K	Missense	8/18	-	2
19-5705892-TCTC-T	c.1255_1257del	p.E419del	InFrameDeletion	8/18	-	1
19-5705896-C-A	c.1254G>T	p.E418D	Missense	8/18	-	1
19-5705896-C-G	c.1254G>C	p.E418D	Missense	8/18	-	1
19-5705898-C-T	c.1252G>A	p.E418K	Missense	8/18	-	1
19-5705908-C-T	c.1242G>A	p.K414=	Synonymous	8/18	-	1
19-5705910-T-C	c.1240A>G	p.K414E	Missense	8/18	-	1
19-5705913-C-T	c.1237G>A	p.D413N	Missense	8/18	-	3
19-5705914-G-A	c.1236C>T	p.D412=	Synonymous	8/18	-	1
19-5705925-G-A	c.1225C>T	p.L409=	Synonymous	8/18	-	3
19-5705925-G-C	c.1225C>G	p.L409V	Missense	8/18	-	1
19-5705926-G-A	c.1224C>T	p.G408=	Synonymous	8/18	-	1
19-5705926-G-C	c.1224C>G	p.G408=	Synonymous	8/18	-	3
19-5705926-G-T	c.1224C>A	p.G408=	Synonymous	8/18	-	1
19-5705928-CCAG-C	c.1219_1221del	p.L407del	InFrameDeletion	8/18	-	1
19-5705935-C-A	c.1215G>T	p.K405N	Missense	8/18	-	1
19-5705937-T-C	c.1213A>G	p.K405E	Missense	8/18	-	2
19-5705940-T-C	c.1210A>G	p.K404E	Missense	8/18	-	2
19-5705941-G-A	c.1209C>T	p.I403=	Synonymous	8/18	-	2
19-5705943-T-G	c.1207A>C	p.I403L	Missense	8/18	-	1
19-5705948-T-A	c.1202A>T	p.K401M	Missense	8/18	-	1
19-5705953-C-T	c.1197G>A	p.Q399=	Synonymous	8/18	-	1
19-5705955-G-A	c.1195C>T	p.Q399*	Nonsense	8/18	-	1
19-5705958-C-A	c.1192G>T	p.E398*	Nonsense	8/18	-	1
19-5705959-C-G	c.1191G>C	p.Q397H	Missense	8/18	-	1
19-5705959-C-T	c.1191G>A	p.Q397=	Synonymous	8/18	-	1
19-5705965-C-G	c.1185G>C	p.L395=	Synonymous	8/18	-	1
19-5705972-T-TG	c.1177_1178insC	p.K393Tfs*116	Frameshift	8/18	-	1
19-5705975-C-T	c.1175G>A	p.R392H	Missense	8/18	-	3
19-5705976-G-A	c.1174C>T	p.R392C	Missense	8/18	-	2
19-5705982-T-C	c.1168A>G	p.T390A	Missense	8/18	-	1
19-5705983-C-A	c.1167G>T	p.Q389H	Missense	8/18	-	1
19-5705983-C-T	c.1167G>A	p.Q389=	Synonymous	8/18	-	1
19-5705984-T-G	c.1166A>C	p.Q389P	Missense	8/18	-	2
19-5705985-G-T	c.1165C>A	p.Q389K	Missense	8/18	-	1
19-5705986-C-A	c.1164G>T	p.K388N	Missense	8/18	-	1
19-5705987-T-C	c.1163A>G	p.K388R	Missense	8/18	-	1
19-5705992-C-A	c.1158G>T	p.K386N	Missense	8/18	-	1
19-5707062-C-A	c.1146+9G>T	-	IntronicSNV	-	7/17	1
19-5707062-C-T	c.1146+9G>A	-	IntronicSNV	-	7/17	1
19-5707075-C-T	c.1142G>A	p.R381Q	Missense	7/18	-	1
19-5707078-C-T	c.1139G>A	p.G380E	Missense	7/18	-	1
19-5707082-G-T	c.1135C>A	p.L379M	Missense	7/18	-	1
19-5707085-G-A	c.1132C>T	p.R378C	Missense	7/18	-	1
19-5707087-T-C	c.1130A>G	p.Q377R	Missense	7/18	-	1
19-5707092-C-G	c.1125G>C	p.L375=	Synonymous	7/18	-	1
19-5707092-C-T	c.1125G>A	p.L375=	Synonymous	7/18	-	1
19-5707096-T-G	c.1121A>C	p.K374T	Missense	7/18	-	1
19-5707101-C-G	c.1116G>C	p.L372=	Synonymous	7/18	-	1
19-5707109-A-G	c.1108T>C	p.F370L	Missense	7/18	-	1
19-5707111-T-C	c.1106A>G	p.E369G	Missense	7/18	-	2
19-5707116-C-A	c.1101G>T	p.K367N	Missense	7/18	-	3
19-5707116-C-G	c.1101G>C	p.K367N	Missense	7/18	-	1
19-5707119-C-T	c.1098G>A	p.L366=	Synonymous	7/18	-	1
19-5707121-G-C	c.1096C>G	p.L366V	Missense	7/18	-	1
19-5707125-G-A	c.1092C>T	p.S364=	Synonymous	7/18	-	1
19-5707130-G-A	c.1087C>T	p.L363F	Missense	7/18	-	1
19-5707132-GC-CA	c.1084_1085delinsTG	p.A362C	Missense	7/18	-	1
19-5707135-T-G	c.1082A>C	p.K361T	Missense	7/18	-	1
19-5707140-C-A	c.1077G>T	p.L359=	Synonymous	7/18	-	2
19-5707140-C-G	c.1077G>C	p.L359=	Synonymous	7/18	-	2
19-5707140-C-T	c.1077G>A	p.L359=	Synonymous	7/18	-	2
19-5707142-G-A	c.1075C>T	p.L359=	Synonymous	7/18	-	3
19-5707144-C-T	c.1073G>A	p.R358Q	Missense	7/18	-	1
19-5707145-G-A	c.1072C>T	p.R358W	Missense	7/18	-	4
19-5707153-A-C	c.1064T>G	p.I355S	Missense	7/18	-	1
19-5707204-T-C	c.1063-50A>G	-	IntronicSNV	-	6/17	11
19-5707628-G-A	c.1062+80C>T	-	IntronicSNV	-	6/17	3
19-5707709-T-C	c.1061A>G	p.N354S	Missense	6/18	-	2
19-5707710-T-C	c.1060A>G	p.N354D	Missense	6/18	-	2
19-5707714-C-A	c.1056G>T	p.E352D	Missense	6/18	-	1
19-5707714-C-G	c.1056G>C	p.E352D	Missense	6/18	-	1
19-5707714-C-T	c.1056G>A	p.E352=	Synonymous	6/18	-	1
19-5707719-C-G	c.1051G>C	p.E351Q	Missense	6/18	-	1
19-5707719-C-T	c.1051G>A	p.E351K	Missense	6/18	-	1
19-5707722-G-A	c.1048C>T	p.L350=	Synonymous	6/18	-	1
19-5707725-C-T	c.1045G>A	p.V349I	Missense	6/18	-	7
19-5707728-C-T	c.1042G>A	p.D348N	Missense	6/18	-	1
19-5707729-C-A	c.1041G>T	p.Q347H	Missense	6/18	-	1
19-5707746-C-T	c.1024G>A	p.E342K	Missense	6/18	-	1
19-5707747-G-A	c.1023C>T	p.A341=	Synonymous	6/18	-	2
19-5707751-C-T	c.1019G>A	p.G340E	Missense	6/18	-	1
19-5707752-C-T	c.1018G>A	p.G340R	Missense	6/18	-	1
19-5707753-G-A	c.1017C>T	p.T339=	Synonymous	6/18	-	1
19-5707753-G-T	c.1017C>A	p.T339=	Synonymous	6/18	-	1
19-5707755-T-G	c.1015A>C	p.T339P	Missense	6/18	-	1
19-5707760-G-A	c.1010C>T	p.A337V	Missense	6/18	-	2
19-5707761-C-T	c.1009G>A	p.A337T	Missense	6/18	-	2
19-5707762-G-A	c.1008C>T	p.A336=	Synonymous	6/18	-	1
19-5707770-T-A	c.1000A>T	p.M334L	Missense	6/18	-	1
19-5707771-G-A	c.999C>T	p.D333=	Synonymous	6/18	-	1
19-5707773-C-A	c.997G>T	p.D333Y	Missense	6/18	-	2
19-5707774-G-A	c.996C>T	p.S332=	Synonymous	6/18	-	3
19-5707775-CT-AA	c.994_995delinsTT	p.S332F	Missense	6/18	-	1
19-5707777-C-T	c.993G>A	p.L331=	Synonymous	6/18	-	1
19-5707779-G-A	c.991C>T	p.L331=	Synonymous	6/18	-	1
19-5707782-A-AG	c.987dup	p.Y330Lfs*16	Frameshift	6/18	-	1
19-5707786-G-A	c.984C>T	p.P328=	Synonymous	6/18	-	1
19-5707788-G-A	c.982C>T	p.P328S	Missense	6/18	-	1
19-5707789-G-A	c.981C>T	p.N327=	Synonymous	6/18	-	1
19-5707803-G-A	c.967C>T	p.R323W	Missense	6/18	-	2
19-5707804-C-A	c.966G>T	p.Q322H	Missense	6/18	-	1
19-5707807-GC-CT	c.962_963delinsAG	p.G321E	Missense	6/18	-	1
19-5707811-G-A	c.959C>T	p.A320V	Missense	6/18	-	1
19-5707817-A-G	c.953T>C	p.M318T	Missense	6/18	-	1
19-5707819-C-A	c.951G>T	p.M317I	Missense	6/18	-	1
19-5707819-C-G	c.951G>C	p.M317I	Missense	6/18	-	1
19-5707819-C-T	c.951G>A	p.M317I	Missense	6/18	-	1
19-5707829-A-G	c.941T>C	p.V314A	Missense	6/18	-	1
19-5707830-C-T	c.940G>A	p.V314M	Missense	6/18	-	2
19-5707832-G-A	c.938C>T	p.S313L	Missense	6/18	-	3
19-5707832-GA-CT	c.937_938delinsAG	p.S313R	Missense	6/18	-	1
19-5707833-A-G	c.937T>C	p.S313P	Missense	6/18	-	1
19-5708198-G-A	c.932+155C>T	-	IntronicSNV	-	5/17	1
19-5708352-C-T	c.932+1G>A	-	IntronicSNV	-	5/17	1
19-5708356-T-C	c.929A>G	p.Y310C	Missense	5/18	-	1
19-5708358-G-A	c.927C>T	p.L309=	Synonymous	5/18	-	1
19-5708362-G-A	c.923C>T	p.P308L	Missense	5/18	-	2
19-5708363-G-C	c.922C>G	p.P308A	Missense	5/18	-	2
19-5708369-A-T	c.916T>A	p.L306M	Missense	5/18	-	2
19-5708373-A-C	c.912T>G	p.I304M	Missense	5/18	-	1
19-5708375-T-A	c.910A>T	p.I304F	Missense	5/18	-	1
19-5708381-C-T	c.904G>A	p.D302N	Missense	5/18	-	1
19-5708382-CC-AT	c.902_903delinsAT	p.R301H	Missense	5/18	-	1
19-5708380-TC-T	c.904del	p.D302Tfs*5	Frameshift	5/18	-	1
19-5708383-C-T	c.902G>A	p.R301Q	Missense	5/18	-	1
19-5708384-G-A	c.901C>T	p.R301W	Missense	5/18	-	2
19-5708387-T-G	c.898A>C	p.I300L	Missense	5/18	-	1
19-5708388-G-A	c.897C>T	p.T299=	Synonymous	5/18	-	1
19-5708388-G-C	c.897C>G	p.T299=	Synonymous	5/18	-	1
19-5708388-G-T	c.897C>A	p.T299=	Synonymous	5/18	-	2
19-5708389-GT-CA	c.895_896delinsTG	p.T299C	Missense	5/18	-	1
19-5708390-T-C	c.895A>G	p.T299A	Missense	5/18	-	1
19-5708390-T-G	c.895A>C	p.T299P	Missense	5/18	-	1
19-5708397-G-A	c.888C>T	p.I296=	Synonymous	5/18	-	1
19-5708397-G-T	c.888C>A	p.I296=	Synonymous	5/18	-	1
19-5708405-C-A	c.880G>T	p.A294S	Missense	5/18	-	1
19-5708405-C-T	c.880G>A	p.A294T	Missense	5/18	-	2
19-5708410-A-G	c.875T>C	p.L292P	Missense	5/18	-	1
19-5708415-C-T	c.871-1G>A	-	IntronicSNV	-	4/17	1
19-5708416-T-A	c.871-2A>T	-	IntronicSNV	-	4/17	1
19-5708480-A-AG	c.871-67dup	-	IntronicInsertion	-	4/17	2
19-5710262-AT-A	c.870+1519del	-	IntronicDeletion	-	4/17	1
19-5711775-G-A	c.870+7C>T	-	IntronicSNV	-	4/17	2
19-5711781-C-G	c.870+1G>C	-	IntronicSNV	-	4/17	1
19-5711784-T-C	c.868A>G	p.K290E	Missense	4/18	-	1
19-5711785-CAC-GAT	c.865_867delinsATC	p.V289I	Missense	4/18	-	1
19-5711788-C-A	c.864G>T	p.E288D	Missense	4/18	-	1
19-5711788-C-G	c.864G>C	p.E288D	Missense	4/18	-	1
19-5711793-C-A	c.859G>T	p.E287*	Nonsense	4/18	-	2
19-5711793-C-T	c.859G>A	p.E287K	Missense	4/18	-	3
19-5711796-T-G	c.856A>C	p.T286P	Missense	4/18	-	2
19-5711797-G-A	c.855C>T	p.V285=	Synonymous	4/18	-	1
19-5711799-C-G	c.853G>C	p.V285L	Missense	4/18	-	1
19-5711800-C-G	c.852G>C	p.Q284H	Missense	4/18	-	1
19-5711808-C-T	c.844G>A	p.D282N	Missense	4/18	-	1
19-5711811-C-G	c.841G>C	p.E281Q	Missense	4/18	-	2
19-5711811-C-T	c.841G>A	p.E281K	Missense	4/18	-	2
19-5711812-G-A	c.840C>T	p.H280=	Synonymous	4/18	-	1
19-5711818-A-T	c.834T>A	p.V278=	Synonymous	4/18	-	1
19-5711820-C-T	c.832G>A	p.V278I	Missense	4/18	-	2
19-5711821-G-A	c.831C>T	p.N277=	Synonymous	4/18	-	2
19-5711822-T-A	c.830A>T	p.N277I	Missense	4/18	-	1
19-5711823-T-C	c.829A>G	p.N277D	Missense	4/18	-	1
19-5711824-C-T	c.828G>A	p.E276=	Synonymous	4/18	-	1
19-5711825-T-C	c.827A>G	p.E276G	Missense	4/18	-	1
19-5711826-C-G	c.826G>C	p.E276Q	Missense	4/18	-	2
19-5711832-C-G	c.820G>C	p.E274Q	Missense	4/18	-	1
19-5711842-C-T	c.810G>A	p.V270=	Synonymous	4/18	-	1
19-5711843-A-C	c.809T>G	p.V270G	Missense	4/18	-	1
19-5711845-C-T	c.807G>A	p.E269=	Synonymous	4/18	-	1
19-5711849-G-A	c.803C>T	p.A268V	Missense	4/18	-	2
19-5711852-G-A	c.800C>T	p.P267L	Missense	4/18	-	3
19-5711852-G-C	c.800C>G	p.P267R	Missense	4/18	-	1
19-5711856-G-A	c.796C>T	p.L266F	Missense	4/18	-	1
19-5711856-G-C	c.796C>G	p.L266V	Missense	4/18	-	1
19-5711861-G-C	c.791C>G	p.P264R	Missense	4/18	-	1
19-5711871-C-T	c.781G>A	p.E261K	Missense	4/18	-	1
19-5711872-C-T	c.780G>A	p.M260I	Missense	4/18	-	1
19-5711876-G-A	c.776C>T	p.A259V	Missense	4/18	-	1
19-5711877-C-T	c.775G>A	p.A259T	Missense	4/18	-	1
19-5711878-C-T	c.774G>A	p.L258=	Synonymous	4/18	-	1
19-5711885-G-A	c.767C>T	p.A256V	Missense	4/18	-	3
19-5711885-G-C	c.767C>G	p.A256G	Missense	4/18	-	1
19-5711887-C-T	c.765G>A	p.P255=	Synonymous	4/18	-	3
19-5711888-G-A	c.764C>T	p.P255L	Missense	4/18	-	3
19-5711889-G-A	c.763C>T	p.P255S	Missense	4/18	-	1
19-5711893-C-A	c.759G>T	p.R253S	Missense	4/18	-	1
19-5711894-C-G	c.758G>C	p.R253T	Missense	4/18	-	2
19-5711895-T-G	c.757A>C	p.R253=	Synonymous	4/18	-	1
19-5711897-G-A	c.755C>T	p.A252V	Missense	4/18	-	2
19-5711898-C-A	c.754G>T	p.A252S	Missense	4/18	-	3
19-5711898-C-T	c.754G>A	p.A252T	Missense	4/18	-	2
19-5711899-G-A	c.753C>T	p.S251=	Synonymous	4/18	-	1
19-5711899-G-C	c.753C>G	p.S251R	Missense	4/18	-	2
19-5711899-G-T	c.753C>A	p.S251R	Missense	4/18	-	1
19-5711901-T-G	c.751A>C	p.S251R	Missense	4/18	-	1
19-5711907-C-G	c.745G>C	p.E249Q	Missense	4/18	-	2
19-5711909-T-C	c.743A>G	p.D248G	Missense	4/18	-	1
19-5711910-C-T	c.742G>A	p.D248N	Missense	4/18	-	8
19-5711913-C-T	c.739G>A	p.E247K	Missense	4/18	-	1
19-5711914-C-T	c.738G>A	p.A246=	Synonymous	4/18	-	1
19-5711915-G-T	c.737C>A	p.A246E	Missense	4/18	-	1
19-5711916-C-T	c.736G>A	p.A246T	Missense	4/18	-	1
19-5711917-C-A	c.735G>T	p.E245D	Missense	4/18	-	1
19-5711917-C-G	c.735G>C	p.E245D	Missense	4/18	-	1
19-5711919-CCTT-C	c.730_732del	p.K244del	InFrameDeletion	4/18	-	1
19-5711927-C-T	c.725G>A	p.G242D	Missense	4/18	-	2
19-5711928-C-T	c.724G>A	p.G242S	Missense	4/18	-	1
19-5711930-CG-GC	c.721_722delinsGC	p.R241A	Missense	4/18	-	1
19-5711930-C-T	c.722G>A	p.R241Q	Missense	4/18	-	19
19-5711931-G-A	c.721C>T	p.R241W	Missense	4/18	-	1
19-5711933-T-G	c.719A>C	p.K240T	Missense	4/18	-	1
19-5711936-G-A	c.716C>T	p.S239L	Missense	4/18	-	2
19-5711936-G-C	c.716C>G	p.S239*	Nonsense	4/18	-	2
19-5711936-G-T	c.716C>A	p.S239*	Nonsense	4/18	-	1
19-5711941-C-A	c.711G>T	p.R237S	Missense	4/18	-	1
19-5711942-CT-GC	c.709_710delinsGC	p.R237A	Missense	4/18	-	1
19-5711942-CT-TG	c.709_710delinsCA	p.R237Q	Missense	4/18	-	1
19-5711945-C-A	c.707G>T	p.R236L	Missense	4/18	-	1
19-5711945-C-G	c.707G>C	p.R236P	Missense	4/18	-	2
19-5711945-C-T	c.707G>A	p.R236H	Missense	4/18	-	2
19-5711948-G-C	c.704C>G	p.P235R	Missense	4/18	-	1
19-5711950-C-G	c.702G>C	p.K234N	Missense	4/18	-	1
19-5711950-C-T	c.702G>A	p.K234=	Synonymous	4/18	-	1
19-5711953-G-A	c.699C>T	p.H233=	Synonymous	4/18	-	1
19-5711959-G-C	c.693C>G	p.N231K	Missense	4/18	-	1
19-5711966-G-A	c.686C>T	p.A229V	Missense	4/18	-	2
19-5711967-C-T	c.685G>A	p.A229T	Missense	4/18	-	1
19-5711970-C-G	c.682G>C	p.E228Q	Missense	4/18	-	1
19-5711972-G-A	c.680C>T	p.P227L	Missense	4/18	-	1
19-5711976-C-T	c.676G>A	p.E226K	Missense	4/18	-	2
19-5711979-C-T	c.673G>A	p.E225K	Missense	4/18	-	1
19-5711980-G-A	c.672C>T	p.P224=	Synonymous	4/18	-	1
19-5711980-G-C	c.672C>G	p.P224=	Synonymous	4/18	-	1
19-5711980-G-T	c.672C>A	p.P224=	Synonymous	4/18	-	1
19-5711985-C-A	c.667G>T	p.E223*	Nonsense	4/18	-	1
19-5711985-C-T	c.667G>A	p.E223K	Missense	4/18	-	2
19-5711991-C-T	c.661G>A	p.E221K	Missense	4/18	-	2
19-5711992-C-G	c.660G>C	p.L220=	Synonymous	4/18	-	1
19-5711995-C-G	c.657G>C	p.Q219H	Missense	4/18	-	1
19-5711996-T-C	c.656A>G	p.Q219R	Missense	4/18	-	1
19-5711997-G-C	c.655C>G	p.Q219E	Missense	4/18	-	1
19-5712002-C-T	c.650G>A	p.S217N	Missense	4/18	-	1
19-5712002-CT-AA	c.649_650delinsTT	p.S217F	Missense	4/18	-	1
19-5712003-T-G	c.649A>C	p.S217R	Missense	4/18	-	1
19-5712005-A-C	c.647T>G	p.I216S	Missense	4/18	-	3
19-5712008-T-C	c.644A>G	p.H215R	Missense	4/18	-	1
19-5712010-G-A	c.642C>T	p.V214=	Synonymous	4/18	-	2
19-5712010-G-C	c.642C>G	p.V214=	Synonymous	4/18	-	2
19-5712010-G-T	c.642C>A	p.V214=	Synonymous	4/18	-	2
19-5712011-A-AC	c.640dup	p.V214Gfs*52	SpliceAcceptorInsertion	4/18	-	2
19-5712014-C-CT	c.639-2dup	-	IntronicInsertion	-	3/17	1
19-5712978-G-A	c.638+167C>T	-	IntronicSNV	-	3/17	1
19-5713145-CT-AG	c.637_638inv	p.R213L	Missense	3/18	-	1
19-5713145-CT-TG	c.637_638delinsCA	p.R213Q	Missense	3/18	-	1
19-5713146-T-A	c.637A>T	p.R213*	Nonsense	3/18	-	1
19-5713148-C-A	c.635G>T	p.R212I	Missense	3/18	-	1
19-5713148-C-G	c.635G>C	p.R212T	Missense	3/18	-	2
19-5713148-C-T	c.635G>A	p.R212K	Missense	3/18	-	4
19-5713150-G-C	c.633C>G	p.H211Q	Missense	3/18	-	1
19-5713154-C-A	c.629G>T	p.G210V	Missense	3/18	-	1
19-5713154-C-T	c.629G>A	p.G210E	Missense	3/18	-	2
19-5713158-T-A	c.625A>T	p.M209L	Missense	3/18	-	1
19-5713161-C-G	c.622G>C	p.V208L	Missense	3/18	-	1
19-5713162-G-A	c.621C>T	p.I207=	Synonymous	3/18	-	1
19-5713167-T-C	c.616A>G	p.M206V	Missense	3/18	-	2
19-5713169-C-T	c.614G>A	p.R205H	Missense	3/18	-	3
19-5713170-G-A	c.613C>T	p.R205C	Missense	3/18	-	2
19-5713172-A-T	c.611T>A	p.L204Q	Missense	3/18	-	1
19-5713175-T-G	c.608A>C	p.K203T	Missense	3/18	-	1
19-5713179-C-A	c.604G>T	p.D202Y	Missense	3/18	-	1
19-5713183-A-C	c.600T>G	p.L200=	Synonymous	3/18	-	1
19-5713183-A-G	c.600T>C	p.L200=	Synonymous	3/18	-	1
19-5713183-A-T	c.600T>A	p.L200=	Synonymous	3/18	-	1
19-5713189-C-G	c.594G>C	p.Q198H	Missense	3/18	-	1
19-5713191-G-A	c.592C>T	p.Q198*	Nonsense	3/18	-	1
19-5713197-C-G	c.586G>C	p.E196Q	Missense	3/18	-	1
19-5713198-A-C	c.585T>G	p.H195Q	Missense	3/18	-	1
19-5713198-A-T	c.585T>A	p.H195Q	Missense	3/18	-	1
19-5713200-G-A	c.583C>T	p.H195Y	Missense	3/18	-	2
19-5713201-G-A	c.582C>T	p.I194=	Synonymous	3/18	-	1
19-5713205-T-C	c.578A>G	p.Q193R	Missense	3/18	-	1
19-5713208-G-A	c.575C>T	p.A192V	Missense	3/18	-	1
19-5713209-C-A	c.574G>T	p.A192S	Missense	3/18	-	1
19-5713211-A-G	c.572T>C	p.F191S	Missense	3/18	-	1
19-5713214-G-A	c.569C>T	p.T190M	Missense	3/18	-	5
19-5713216-CCC-ACA	c.565_567delinsTGT	p.G189C	Missense	3/18	-	1
19-5713216-CCC-GCT	c.565_567delinsAGC	p.G189S	Missense	3/18	-	1
19-5713217-CC-TA	c.565_566delinsTA	p.G189*	Nonsense	3/18	-	1
19-5713216-C-CCCGCCGCCAGAG	c.566_567insCTCTGGCGGCGG	p.G189_T190insSGGG	InFrameInsertion	3/18	-	1
19-5713218-C-G	c.565G>C	p.G189R	Missense	3/18	-	1
19-5713218-C-T	c.565G>A	p.G189R	Missense	3/18	-	2
19-5713219-C-A	c.564G>T	p.T188=	Synonymous	3/18	-	1
19-5713219-CG-GT	c.563_564delinsAC	p.T188N	Missense	3/18	-	1
19-5713220-G-A	c.563C>T	p.T188M	Missense	3/18	-	1
19-5713221-T-TG	c.561dup	p.T188Hfs*9	Frameshift	3/18	-	1
19-5713222-G-C	c.561C>G	p.H187Q	Missense	3/18	-	1
19-5713222-G-T	c.561C>A	p.H187Q	Missense	3/18	-	1
19-5713224-G-C	c.559C>G	p.H187D	Missense	3/18	-	4
19-5713232-T-C	c.551A>G	p.E184G	Missense	3/18	-	2
19-5713233-C-T	c.550G>A	p.E184K	Missense	3/18	-	1
19-5713236-C-T	c.547G>A	p.D183N	Missense	3/18	-	1
19-5713240-G-C	c.543C>G	p.S181R	Missense	3/18	-	1
19-5713240-G-T	c.543C>A	p.S181R	Missense	3/18	-	1
19-5713242-T-G	c.541A>C	p.S181R	Missense	3/18	-	1
19-5713241-C-T	c.542G>A	p.S181N	Missense	3/18	-	1
19-5713243-C-T	c.540G>A	p.E180=	Synonymous	3/18	-	1
19-5713244-T-G	c.539A>C	p.E180A	Missense	3/18	-	1
19-5713245-C-T	c.538G>A	p.E180K	Missense	3/18	-	7
19-5713246-G-A	c.537C>T	p.V179=	Synonymous	3/18	-	2
19-5713246-G-C	c.537C>G	p.V179=	Synonymous	3/18	-	1
19-5713246-G-T	c.537C>A	p.V179=	Synonymous	3/18	-	1
19-5713250-A-AC	c.532dup	p.V178Gfs*7	Frameshift	3/18	-	1
19-5713254-C-T	c.529G>A	p.D177N	Missense	3/18	-	1
19-5713255-C-T	c.528G>A	p.S176=	Synonymous	3/18	-	1
19-5713256-G-A	c.527C>T	p.S176L	Missense	3/18	-	1
19-5713291-T-C	c.519-27A>G	-	IntronicSNV	-	2/17	1
19-5714062-G-A	c.518+132C>T	-	IntronicSNV	-	2/17	1
19-5714194-CT-AG	c.517_518inv	p.S173L	Missense	2/18	-	1
19-5714201-C-T	c.511G>A	p.D171N	Missense	2/18	-	5
19-5714202-T-C	c.510A>G	p.R170=	Synonymous	2/18	-	1
19-5714204-T-G	c.508A>C	p.R170=	Synonymous	2/18	-	1
19-5714210-G-C	c.502C>G	p.L168V	Missense	2/18	-	1
19-5714210-G-T	c.502C>A	p.L168I	Missense	2/18	-	1
19-5714214-GAC-CAT	c.496_498delinsATG	p.V166M	Missense	2/18	-	1
19-5714216-C-T	c.496G>A	p.V166I	Missense	2/18	-	1
19-5714217-G-A	c.495C>T	p.G165=	Synonymous	2/18	-	4
19-5714217-G-C	c.495C>G	p.G165=	Synonymous	2/18	-	2
19-5714217-G-T	c.495C>A	p.G165=	Synonymous	2/18	-	1
19-5714218-C-T	c.494G>A	p.G165D	Missense	2/18	-	1
19-5714219-C-A	c.493G>T	p.G165C	Missense	2/18	-	1
19-5714219-C-G	c.493G>C	p.G165R	Missense	2/18	-	1
19-5714219-C-T	c.493G>A	p.G165S	Missense	2/18	-	3
19-5714220-G-A	c.492C>T	p.V164=	Synonymous	2/18	-	1
19-5714220-G-C	c.492C>G	p.V164=	Synonymous	2/18	-	1
19-5714220-G-T	c.492C>A	p.V164=	Synonymous	2/18	-	5
19-5714222-C-A	c.490G>T	p.V164F	Missense	2/18	-	5
19-5714222-C-T	c.490G>A	p.V164I	Missense	2/18	-	1
19-5714227-G-A	c.485C>T	p.P162L	Missense	2/18	-	1
19-5714231-G-T	c.481C>A	p.Q161K	Missense	2/18	-	1
19-5714232-G-A	c.480C>T	p.A160=	Synonymous	2/18	-	1
19-5714232-G-C	c.480C>G	p.A160=	Synonymous	2/18	-	1
19-5714232-G-T	c.480C>A	p.A160=	Synonymous	2/18	-	1
19-5714233-G-A	c.479C>T	p.A160V	Missense	2/18	-	3
19-5714233-G-T	c.479C>A	p.A160D	Missense	2/18	-	1
19-5714234-C-T	c.478G>A	p.A160T	Missense	2/18	-	2
19-5714235-G-A	c.477C>T	p.L159=	Synonymous	2/18	-	1
19-5714235-G-C	c.477C>G	p.L159=	Synonymous	2/18	-	1
19-5714235-G-T	c.477C>A	p.L159=	Synonymous	2/18	-	1
19-5714239-C-T	c.473G>A	p.R158H	Missense	2/18	-	2
19-5714240-G-A	c.472C>T	p.R158C	Missense	2/18	-	4
19-5714245-T-A	c.467A>T	p.K156I	Missense	2/18	-	1
19-5714247-CCT-ATG	c.463_465delinsCAT	p.R155H	Missense	2/18	-	1
19-5714248-C-T	c.464G>A	p.R155K	Missense	2/18	-	1
19-5714251-CT-TG	c.460_461delinsCA	p.R154Q	Missense	2/18	-	1
19-5714253-C-A	c.459G>T	p.L153=	Synonymous	2/18	-	1
19-5714253-C-G	c.459G>C	p.L153=	Synonymous	2/18	-	1
19-5714253-C-T	c.459G>A	p.L153=	Synonymous	2/18	-	2
19-5714255-G-A	c.457C>T	p.L153=	Synonymous	2/18	-	1
19-5714260-T-A	c.452A>T	p.E151V	Missense	2/18	-	1
19-5714264-C-T	c.448G>A	p.V150I	Missense	2/18	-	1
19-5714263-A-AC	c.448dup	p.V150Gfs*2	Frameshift	2/18	-	1
19-5714265-C-T	c.447G>A	p.L149=	Synonymous	2/18	-	1
19-5714267-A-G	c.445T>C	p.L149=	Synonymous	2/18	-	1
19-5714271-C-A	c.441G>T	p.K147N	Missense	2/18	-	1
19-5714271-C-G	c.441G>C	p.K147N	Missense	2/18	-	1
19-5714275-T-A	c.437A>T	p.N146I	Missense	2/18	-	3
19-5714275-T-G	c.437A>C	p.N146T	Missense	2/18	-	1
19-5714277-T-C	c.435A>G	p.K145=	Synonymous	2/18	-	1
19-5714278-T-C	c.434A>G	p.K145R	Missense	2/18	-	1
19-5714279-T-G	c.433A>C	p.K145Q	Missense	2/18	-	2
19-5714346-T-C	c.430-64A>G	-	IntronicSNV	-	1/17	1
19-5717962-G-A	c.429+1753C>T	-	IntronicSNV	-	1/17	1
19-5717962-G-C	c.429+1753C>G	-	IntronicSNV	-	1/17	1
19-5717962-G-T	c.429+1753C>A	-	IntronicSNV	-	1/17	1
19-5719692-G-A	c.429+23C>T	-	IntronicSNV	-	1/17	1
19-5719718-G-C	c.426C>G	p.I142M	Missense	1/18	-	4
19-5719724-C-G	c.420G>C	p.K140N	Missense	1/18	-	1
19-5719726-T-C	c.418A>G	p.K140E	Missense	1/18	-	1
19-5719726-T-G	c.418A>C	p.K140Q	Missense	1/18	-	1
19-5719732-A-C	c.412T>G	p.F138V	Missense	1/18	-	1
19-5719733-G-A	c.411C>T	p.R137=	Synonymous	1/18	-	1
19-5719733-G-C	c.411C>G	p.R137=	Synonymous	1/18	-	1
19-5719733-GCG-CCA	c.409_411delinsTGG	p.R137W	Missense	1/18	-	1
19-5719733-G-T	c.411C>A	p.R137=	Synonymous	1/18	-	1
19-5719737-G-A	c.407C>T	p.P136L	Missense	1/18	-	1
19-5719742-C-G	c.402G>C	p.V134=	Synonymous	1/18	-	1
19-5719744-C-A	c.400G>T	p.V134L	Missense	1/18	-	1
19-5719744-C-G	c.400G>C	p.V134L	Missense	1/18	-	1
19-5719746-G-A	c.398C>T	p.P133L	Missense	1/18	-	1
19-5719750-T-G	c.394A>C	p.N132H	Missense	1/18	-	1
19-5719752-C-A	c.392G>T	p.R131L	Missense	1/18	-	1
19-5719755-G-A	c.389C>T	p.T130I	Missense	1/18	-	1
19-5719762-C-T	c.382G>A	p.A128T	Missense	1/18	-	2
19-5719763-G-A	c.381C>T	p.I127=	Synonymous	1/18	-	1
19-5719767-A-T	c.377T>A	p.L126H	Missense	1/18	-	1
19-5719775-G-A	c.369C>T	p.H123=	Synonymous	1/18	-	1
19-5719774-GGT-G	c.368_369del	p.H123Pfs*22	Frameshift	1/18	-	1
19-5719777-G-C	c.367C>G	p.H123D	Missense	1/18	-	2
19-5719781-A-C	c.363T>G	p.F121L	Missense	1/18	-	1
19-5719788-T-A	c.356A>T	p.D119V	Missense	1/18	-	1
19-5719788-T-C	c.356A>G	p.D119G	Missense	1/18	-	1
19-5719789-C-T	c.355G>A	p.D119N	Missense	1/18	-	1
19-5719791-G-A	c.353C>T	p.P118L	Missense	1/18	-	1
19-5719791-G-C	c.353C>G	p.P118R	Missense	1/18	-	1
19-5719792-G-C	c.352C>G	p.P118A	Missense	1/18	-	1
19-5719793-G-A	c.351C>T	p.I117=	Synonymous	1/18	-	3
19-5719793-G-T	c.351C>A	p.I117=	Synonymous	1/18	-	1
19-5719795-T-C	c.349A>G	p.I117V	Missense	1/18	-	1
19-5719796-C-A	c.348G>T	p.T116=	Synonymous	1/18	-	1
19-5719796-C-G	c.348G>C	p.T116=	Synonymous	1/18	-	1
19-5719796-C-T	c.348G>A	p.T116=	Synonymous	1/18	-	1
19-5719800-A-G	c.344T>C	p.M115T	Missense	1/18	-	1
19-5719801-T-C	c.343A>G	p.M115V	Missense	1/18	-	2
19-5719806-G-A	c.338C>T	p.T113M	Missense	1/18	-	2
19-5719806-G-T	c.338C>A	p.T113K	Missense	1/18	-	1
19-5719807-T-C	c.337A>G	p.T113A	Missense	1/18	-	2
19-5719808-G-A	c.336C>T	p.L112=	Synonymous	1/18	-	3
19-5719808-G-C	c.336C>G	p.L112=	Synonymous	1/18	-	2
19-5719808-G-T	c.336C>A	p.L112=	Synonymous	1/18	-	2
19-5719812-G-A	c.332C>T	p.A111V	Missense	1/18	-	1
19-5719812-G-T	c.332C>A	p.A111E	Missense	1/18	-	1
19-5719813-C-T	c.331G>A	p.A111T	Missense	1/18	-	2
19-5719814-CGT-ACA	c.328_330delinsTGT	p.T110C	Missense	1/18	-	1
19-5719815-G-A	c.329C>T	p.T110M	Missense	1/18	-	1
19-5719815-G-C	c.329C>G	p.T110R	Missense	1/18	-	1
19-5719817-T-A	c.327A>T	p.I109=	Synonymous	1/18	-	1
19-5719817-T-G	c.327A>C	p.I109=	Synonymous	1/18	-	1
19-5719820-G-A	c.324C>T	p.V108=	Synonymous	1/18	-	1
19-5719820-GAC-CAT	c.322_324delinsATG	p.V108M	Missense	1/18	-	1
19-5719823-C-A	c.321G>T	p.P107=	Synonymous	1/18	-	1
19-5719823-C-G	c.321G>C	p.P107=	Synonymous	1/18	-	2
19-5719823-C-T	c.321G>A	p.P107=	Synonymous	1/18	-	2
19-5719824-G-A	c.320C>T	p.P107L	Missense	1/18	-	1
19-5719828-C-T	c.316G>A	p.G106S	Missense	1/18	-	1
19-5719829-T-C	c.315A>G	p.E105=	Synonymous	1/18	-	1
19-5719829-T-G	c.315A>C	p.E105D	Missense	1/18	-	1
19-5719830-T-G	c.314A>C	p.E105A	Missense	1/18	-	1
19-5719831-C-G	c.313G>C	p.E105Q	Missense	1/18	-	1
19-5719832-C-G	c.312G>C	p.G104=	Synonymous	1/18	-	1
19-5719834-C-G	c.310G>C	p.G104R	Missense	1/18	-	2
19-5719834-C-T	c.310G>A	p.G104R	Missense	1/18	-	1
19-5719835-G-T	c.309C>A	p.A103=	Synonymous	1/18	-	1
19-5719836-G-A	c.308C>T	p.A103V	Missense	1/18	-	2
19-5719837-C-T	c.307G>A	p.A103T	Missense	1/18	-	1
19-5719839-C-G	c.305G>C	p.G102A	Missense	1/18	-	1
19-5719840-C-G	c.304G>C	p.G102R	Missense	1/18	-	1
19-5719842-G-A	c.302C>T	p.A101V	Missense	1/18	-	1
19-5719844-G-T	c.300C>A	p.S100R	Missense	1/18	-	2
19-5719846-T-G	c.298A>C	p.S100R	Missense	1/18	-	1
19-5719845-C-T	c.299G>A	p.S100N	Missense	1/18	-	1
19-5719845-C-CT	c.298dup	p.S100Kfs*46	Frameshift	1/18	-	1
19-5719846-T-TG	c.297dup	p.S100Qfs*46	Frameshift	1/18	-	1
19-5719848-C-T	c.296G>A	p.G99D	Missense	1/18	-	2
19-5719851-C-T	c.293G>A	p.G98E	Missense	1/18	-	1
19-5719847-G-GC	c.296dup	p.S100Qfs*46	Frameshift	1/18	-	1
19-5719854-G-T	c.290C>A	p.A97E	Missense	1/18	-	1
19-5719855-C-T	c.289G>A	p.A97T	Missense	1/18	-	1
19-5719857-C-T	c.287G>A	p.G96D	Missense	1/18	-	1
19-5719860-C-T	c.284G>A	p.G95D	Missense	1/18	-	2
19-5719862-G-A	c.282C>T	p.A94=	Synonymous	1/18	-	1
19-5719864-C-T	c.280G>A	p.A94T	Missense	1/18	-	1
19-5719866-C-G	c.278G>C	p.G93A	Missense	1/18	-	3
19-5719867-C-A	c.277G>T	p.G93*	Nonsense	1/18	-	1
19-5719868-T-A	c.276A>T	p.E92D	Missense	1/18	-	1
19-5719868-T-G	c.276A>C	p.E92D	Missense	1/18	-	2
19-5719870-C-A	c.274G>T	p.E92*	Nonsense	1/18	-	1
19-5719871-C-T	c.273G>A	p.E91=	Synonymous	1/18	-	2
19-5719873-C-A	c.271G>T	p.E91*	Nonsense	1/18	-	1
19-5719873-C-T	c.271G>A	p.E91K	Missense	1/18	-	1
19-5719877-GCC-CCA	c.265_267delinsTGG	p.G89W	Missense	1/18	-	1
19-5719881-C-G	c.263G>C	p.G88A	Missense	1/18	-	1
19-5719883-C-A	c.261G>T	p.E87D	Missense	1/18	-	3
19-5719883-C-G	c.261G>C	p.E87D	Missense	1/18	-	3
19-5719885-C-T	c.259G>A	p.E87K	Missense	1/18	-	1
19-5719888-A-G	c.256T>C	p.S86P	Missense	1/18	-	1
19-5719893-TC-CA	c.250_251delinsTG	p.D84C	Missense	1/18	-	1
19-5719894-C-T	c.250G>A	p.D84N	Missense	1/18	-	1
19-5719898-GC-CT	c.245_246delinsAG	p.G82E	Missense	1/18	-	1
19-5719903-C-G	c.241G>C	p.G81R	Missense	1/18	-	1
19-5719903-C-T	c.241G>A	p.G81R	Missense	1/18	-	2
19-5719905-G-A	c.239C>T	p.S80L	Missense	1/18	-	3
19-5719911-G-A	c.233C>T	p.A78V	Missense	1/18	-	1
19-5719919-G-A	c.225C>T	p.G75=	Synonymous	1/18	-	1
19-5719921-C-G	c.223G>C	p.G75R	Missense	1/18	-	1
19-5719925-G-C	c.219C>G	p.S73R	Missense	1/18	-	1
19-5719925-G-T	c.219C>A	p.S73R	Missense	1/18	-	1
19-5719927-T-G	c.217A>C	p.S73R	Missense	1/18	-	1
19-5719928-G-A	c.216C>T	p.S72=	Synonymous	1/18	-	1
19-5719930-T-TA	c.213_214insT	p.S72*	Nonsense	1/18	-	1
19-5719932-G-C	c.212C>G	p.A71G	Missense	1/18	-	1
19-5719934-T-A	c.210A>T	p.E70D	Missense	1/18	-	1
19-5719934-T-G	c.210A>C	p.E70D	Missense	1/18	-	1
19-5719937-C-A	c.207G>T	p.W69C	Missense	1/18	-	1
19-5719937-C-G	c.207G>C	p.W69C	Missense	1/18	-	1
19-5719940-A-C	c.204T>G	p.F68L	Missense	1/18	-	1
19-5719942-A-C	c.202T>G	p.F68V	Missense	1/18	-	1
19-5719951-A-C	c.193T>G	p.W65G	Missense	1/18	-	1
19-5719954-G-A	c.190C>T	p.Q64*	Nonsense	1/18	-	1
19-5719955-G-A	c.189C>T	p.G63=	Synonymous	1/18	-	1
19-5719956-C-T	c.188G>A	p.G63D	Missense	1/18	-	2
19-5719958-CCC-GCT	c.184_186delinsAGC	p.G62S	Missense	1/18	-	1
19-5719961-A-C	c.183T>G	p.I61M	Missense	1/18	-	1
19-5719962-A-G	c.182T>C	p.I61T	Missense	1/18	-	1
19-5719964-T-C	c.180A>G	p.A60=	Synonymous	1/18	-	1
19-5719965-G-A	c.179C>T	p.A60V	Missense	1/18	-	2
19-5719966-C-T	c.178G>A	p.A60T	Missense	1/18	-	1
19-5719973-TCG-ACA	c.169_171delinsTGT	p.R57C	Missense	1/18	-	1
19-5719974-CG-GT	c.169_170delinsAC	p.R57T	Missense	1/18	-	1
19-5719975-G-C	c.169C>G	p.R57G	Missense	1/18	-	1
19-5719976-G-A	c.168C>T	p.G56=	Synonymous	1/18	-	1
19-5719976-G-C	c.168C>G	p.G56=	Synonymous	1/18	-	1
19-5719976-G-T	c.168C>A	p.G56=	Synonymous	1/18	-	1
19-5719977-C-A	c.167G>T	p.G56V	Missense	1/18	-	1
19-5719981-A-T	c.163T>A	p.W55R	Missense	1/18	-	1
19-5719987-C-T	c.157G>A	p.A53T	Missense	1/18	-	3
19-5719992-G-A	c.152C>T	p.P51L	Missense	1/18	-	1
19-5719996-G-A	c.148C>T	p.P50S	Missense	1/18	-	1
19-5719998-G-A	c.146C>T	p.S49F	Missense	1/18	-	1
19-5719998-G-C	c.146C>G	p.S49C	Missense	1/18	-	1
19-5720000-G-A	c.144C>T	p.A48=	Synonymous	1/18	-	1
19-5720000-G-C	c.144C>G	p.A48=	Synonymous	1/18	-	1
19-5720000-GGC-TTA	c.142_144delinsTAA	p.A48*	Nonsense	1/18	-	1
19-5720000-G-T	c.144C>A	p.A48=	Synonymous	1/18	-	1
19-5720001-GC-TA	c.142_143delinsTA	p.A48Y	Missense	1/18	-	1
19-5720006-G-A	c.138C>T	p.C46=	Synonymous	1/18	-	1
19-5720012-CC-AT	c.131_132delinsAT	p.R44H	Missense	1/18	-	1
19-5720012-CCG-ACA	c.130_132delinsTGT	p.R44C	Missense	1/18	-	1
19-5720015-C-T	c.129G>A	p.Q43=	Synonymous	1/18	-	1
19-5720016-T-C	c.128A>G	p.Q43R	Missense	1/18	-	1
19-5720022-C-T	c.122G>A	p.R41Q	Missense	1/18	-	3
19-5720024-G-A	c.120C>T	p.L40=	Synonymous	1/18	-	1
19-5720033-CGC-AAA	c.109_111delinsTTT	p.A37F	Missense	1/18	-	1
19-5720046-G-A	c.98C>T	p.T33I	Missense	1/18	-	1
19-5720046-G-C	c.98C>G	p.T33S	Missense	1/18	-	1
19-5720047-T-A	c.97A>T	p.T33S	Missense	1/18	-	1
19-5720049-G-A	c.95C>T	p.P32L	Missense	1/18	-	1
19-5720053-C-T	c.91G>A	p.V31I	Missense	1/18	-	1
19-5720058-C-A	c.86G>T	p.G29V	Missense	1/18	-	1
19-5720053-CCCGCCCCCCGGCGGCGGCCAGCATCGG-C	c.64_90del	p.P22_R30del	InFrameDeletion	1/18	-	1
19-5720063-G-A	c.81C>T	p.A27=	Synonymous	1/18	-	1
19-5720063-G-C	c.81C>G	p.A27=	Synonymous	1/18	-	1
19-5720063-G-T	c.81C>A	p.A27=	Synonymous	1/18	-	1
19-5720064-GC-AG	c.79_80delinsCT	p.A27L	Missense	1/18	-	1
19-5720064-GC-TG	c.79_80delinsCA	p.A27H	Missense	1/18	-	1
19-5720064-GC-TT	c.79_80delinsAA	p.A27N	Missense	1/18	-	1
19-5720065-C-G	c.79G>C	p.A27P	Missense	1/18	-	1
19-5720067-G-C	c.77C>G	p.A26G	Missense	1/18	-	2
19-5720067-GC-CA	c.76_77delinsTG	p.A26C	Missense	1/18	-	1
19-5720067-GC-TG	c.76_77delinsCA	p.A26H	Missense	1/18	-	1
19-5720068-C-G	c.76G>C	p.A26P	Missense	1/18	-	1
19-5720070-G-T	c.74C>A	p.A25D	Missense	1/18	-	1
19-5720074-G-A	c.70C>T	p.L24=	Synonymous	1/18	-	2
19-5720074-G-C	c.70C>G	p.L24V	Missense	1/18	-	5
19-5720074-G-T	c.70C>A	p.L24M	Missense	1/18	-	10
19-5720077-T-A	c.67A>T	p.M23L	Missense	1/18	-	1
19-5720077-T-C	c.67A>G	p.M23V	Missense	1/18	-	1
19-5720078-C-A	c.66G>T	p.P22=	Synonymous	1/18	-	1
19-5720078-C-T	c.66G>A	p.P22=	Synonymous	1/18	-	1
19-5720080-G-GACCGCC	c.63_64insGGCGGT	p.R21_P22insGG	InFrameInsertion	1/18	-	1
19-5720082-CG-TT	c.61_62delinsAA	p.R21K	Missense	1/18	-	1
19-5720084-C-T	c.60G>A	p.R20=	Synonymous	1/18	-	1
19-5720089-G-A	c.55C>T	p.L19=	Synonymous	1/18	-	1
19-5720091-A-AC	c.52dup	p.V18Gfs*128	Frameshift	1/18	-	1
19-5720097-C-T	c.47G>A	p.C16Y	Missense	1/18	-	5
19-5720100-C-G	c.44G>C	p.R15P	Missense	1/18	-	2
19-5720102-CGC-ATA	c.40_42delinsTAT	p.A14Y	Missense	1/18	-	1
19-5720102-CGC-GTT	c.40_42delinsAAC	p.A14N	Missense	1/18	-	1
19-5720103-GC-CA	c.40_41delinsTG	p.A14W	Missense	1/18	-	1
19-5720105-CGC-AAA	c.37_39delinsTTT	p.A13F	Missense	1/18	-	2
19-5720106-G-C	c.38C>G	p.A13G	Missense	1/18	-	1
19-5720106-GC-CA	c.37_38delinsTG	p.A13W	Missense	1/18	-	1
19-5720108-T-A	c.36A>T	p.G12=	Synonymous	1/18	-	1
19-5720108-T-C	c.36A>G	p.G12=	Synonymous	1/18	-	1
19-5720108-TC-GT	c.35_36delinsAC	p.G12D	Missense	1/18	-	1
19-5720108-T-G	c.36A>C	p.G12=	Synonymous	1/18	-	1
19-5720109-C-T	c.35G>A	p.G12E	Missense	1/18	-	1
19-5720110-C-T	c.34G>A	p.G12R	Missense	1/18	-	1
19-5720117-TC-AT	c.26_27delinsAT	p.R9H	Missense	1/18	-	1
19-5720118-C-CA	c.25_26insT	p.R9Lfs*137	Frameshift	1/18	-	1
19-5720126-G-A	c.18C>T	p.G6=	Synonymous	1/18	-	1
19-5720126-G-C	c.18C>G	p.G6=	Synonymous	1/18	-	1
19-5720126-G-T	c.18C>A	p.G6=	Synonymous	1/18	-	1
19-5720138-C-G	c.6G>C	p.A2=	Synonymous	1/18	-	1
19-5720140-C-T	c.4G>A	p.A2T	Missense	1/18	-	1
19-5720141-C-T	c.3G>A	p.M1?	Missense	1/18	-	1
19-5720143-T-C	c.1A>G	p.M1?	Missense	1/18	-	1