CLCN2

CLCN2 chloride voltage-gated channel 2

Annotation transcript: NM_004366.6

1102 unique variant annotations were identified in 524 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
3-184064105-T-C	c.*289A>G	-	3-UTRSNV	24/24	-	1
3-184064362-G-A	c.*32C>T	-	3-UTRSNV	24/24	-	1
3-184064384-C-T	c.*10G>A	-	3-UTRSNV	24/24	-	2
3-184064397-T-C	c.2694A>G	p.Q898=	Synonymous	24/24	-	1
3-184064404-T-C	c.2687A>G	p.K896R	Missense	24/24	-	1
3-184064404-T-G	c.2687A>C	p.K896T	Missense	24/24	-	1
3-184064408-C-T	c.2683G>A	p.D895N	Missense	24/24	-	2
3-184064409-G-T	c.2682C>A	p.D894E	Missense	24/24	-	2
3-184064411-C-G	c.2680G>C	p.D894H	Missense	24/24	-	1
3-184064411-C-T	c.2680G>A	p.D894N	Missense	24/24	-	2
3-184064412-G-A	c.2679C>T	p.S893=	Synonymous	24/24	-	2
3-184064417-C-T	c.2674G>A	p.D892N	Missense	24/24	-	4
3-184064422-G-C	c.2669C>G	p.P890R	Missense	24/24	-	3
3-184064426-T-C	c.2665A>G	p.S889G	Missense	24/24	-	2
3-184064434-C-T	c.2657G>A	p.R886Q	Missense	24/24	-	4
3-184064438-G-A	c.2653C>T	p.P885S	Missense	24/24	-	1
3-184064441-G-A	c.2650C>T	p.L884F	Missense	24/24	-	3
3-184064446-T-C	c.2645A>G	p.H882R	Missense	24/24	-	1
3-184064446-T-G	c.2645A>C	p.H882P	Missense	24/24	-	2
3-184064447-G-T	c.2644C>A	p.H882N	Missense	24/24	-	4
3-184064449-C-T	c.2642G>A	p.R881H	Missense	24/24	-	9
3-184064450-G-A	c.2641C>T	p.R881C	Missense	24/24	-	1
3-184064453-A-G	c.2638T>C	p.S880P	Missense	24/24	-	1
3-184064468-G-T	c.2623C>A	p.L875I	Missense	24/24	-	1
3-184064473-T-C	c.2618A>G	p.H873R	Missense	24/24	-	1
3-184064474-G-A	c.2617C>T	p.H873Y	Missense	24/24	-	2
3-184064476-AC-TA	c.2614_2615delinsTA	p.V872*	Nonsense	24/24	-	1
3-184064478-C-T	c.2613G>A	p.E871=	Synonymous	24/24	-	1
3-184064477-CCT-C	c.2612_2613del	p.E871Gfs*35	Frameshift	24/24	-	1
3-184064480-C-G	c.2611G>C	p.E871Q	Missense	24/24	-	1
3-184064480-C-CA	c.2610dup	p.E871*	Nonsense	24/24	-	1
3-184064481-A-G	c.2610T>C	p.T870=	Synonymous	24/24	-	1
3-184064485-G-T	c.2606C>A	p.T869N	Missense	24/24	-	1
3-184064483-TGGTCTCCGTGTCACTGCTGCTGGTGGCACTGTCTC-T	c.2573_2607del	p.R858Hfs*2	Frameshift	24/24	-	1
3-184064490-C-T	c.2601G>A	p.T867=	Synonymous	24/24	-	2
3-184064491-G-A	c.2600C>T	p.T867M	Missense	24/24	-	3
3-184064492-T-G	c.2599A>C	p.T867P	Missense	24/24	-	1
3-184064496-A-C	c.2595T>G	p.S865R	Missense	24/24	-	8
3-184064496-A-T	c.2595T>A	p.S865R	Missense	24/24	-	8
3-184064498-T-G	c.2593A>C	p.S865R	Missense	24/24	-	11
3-184064497-C-T	c.2594G>A	p.S865N	Missense	24/24	-	4
3-184064499-G-A	c.2592C>T	p.S864=	Synonymous	24/24	-	1
3-184064500-C-T	c.2591G>A	p.S864N	Missense	24/24	-	1
3-184064500-CT-GG	c.2590_2591delinsCC	p.S864P	Missense	24/24	-	1
3-184064503-C-A	c.2588G>T	p.S863I	Missense	24/24	-	1
3-184064509-G-T	c.2582C>A	p.A861D	Missense	24/24	-	2
3-184064516-C-T	c.2575G>A	p.D859N	Missense	24/24	-	1
3-184064518-C-T	c.2573G>A	p.R858Q	Missense	24/24	-	1
3-184064519-G-A	c.2572C>T	p.R858*	Nonsense	24/24	-	1
3-184064527-G-C	c.2564C>G	p.A855G	Missense	24/24	-	1
3-184064528-C-T	c.2563G>A	p.A855T	Missense	24/24	-	1
3-184064533-G-T	c.2558C>A	p.P853H	Missense	24/24	-	1
3-184064535-C-A	c.2556G>T	p.P852=	Synonymous	24/24	-	1
3-184064535-C-G	c.2556G>C	p.P852=	Synonymous	24/24	-	1
3-184064535-C-T	c.2556G>A	p.P852=	Synonymous	24/24	-	1
3-184064534-GCGGCCGGACTTTCACACCCTGTGCTGTGACAGAGC-G	c.2522_2556del	p.G841Afs*14	Frameshift	24/24	-	1
3-184064536-G-A	c.2555C>T	p.P852L	Missense	24/24	-	6
3-184064538-CCG-ACA	c.2551_2553delinsTGT	p.R851C	Missense	24/24	-	1
3-184064539-C-G	c.2552G>C	p.R851P	Missense	24/24	-	1
3-184064539-C-T	c.2552G>A	p.R851Q	Missense	24/24	-	5
3-184064546-T-A	c.2545A>T	p.K849*	Nonsense	24/24	-	1
3-184064546-T-C	c.2545A>G	p.K849E	Missense	24/24	-	3
3-184064549-C-T	c.2542G>A	p.V848M	Missense	24/24	-	2
3-184064553-C-A	c.2538G>T	p.Q846H	Missense	24/24	-	1
3-184064558-C-T	c.2533G>A	p.A845T	Missense	24/24	-	3
3-184064560-G-C	c.2531C>G	p.T844R	Missense	24/24	-	1
3-184064566-G-C	c.2525C>G	p.S842C	Missense	24/24	-	1
3-184064571-CCTCGATGGCCTTCCGGAGCTGGAAAGGTGAGAGGGACAGATGTCTGGACCCAGATGTCA-C	c.2503-41_2520del	-	Multi:SpliceDonorDeletion,SpliceAcceptorDeletion	24/24	23/23	1
3-184064573-C-T	c.2518G>A	p.E840K	Missense	24/24	-	1
3-184064583-C-T	c.2508G>A	p.R836=	Synonymous	24/24	-	1
3-184064584-C-T	c.2507G>A	p.R836Q	Missense	24/24	-	2
3-184064724-T-G	c.2501A>C	p.E834A	Missense	23/24	-	1
3-184064727-T-C	c.2498A>G	p.K833R	Missense	23/24	-	3
3-184064733-G-T	c.2492C>A	p.T831N	Missense	23/24	-	1
3-184064734-T-C	c.2491A>G	p.T831A	Missense	23/24	-	3
3-184064737-C-G	c.2488G>C	p.V830L	Missense	23/24	-	2
3-184064737-C-T	c.2488G>A	p.V830I	Missense	23/24	-	2
3-184064741-TCC-GCT	c.2482_2484delinsAGC	p.G828S	Missense	23/24	-	1
3-184064742-C-A	c.2483G>T	p.G828V	Missense	23/24	-	1
3-184064743-C-T	c.2482G>A	p.G828R	Missense	23/24	-	2
3-184064744-A-C	c.2481T>G	p.I827M	Missense	23/24	-	1
3-184064745-A-G	c.2480T>C	p.I827T	Missense	23/24	-	1
3-184064746-T-G	c.2479A>C	p.I827L	Missense	23/24	-	1
3-184064750-GTCTGCCAATACTGGTGACATAAGCATGGTCCACTC-G	c.2441_2475del	p.G814Afs*41	Frameshift	23/24	-	1
3-184064751-C-T	c.2474G>A	p.R825K	Missense	23/24	-	1
3-184064751-CT-GG	c.2473_2474delinsCC	p.R825P	Missense	23/24	-	1
3-184064761-CT-C	c.2464del	p.S822Vfs*11	Frameshift	23/24	-	2
3-184064774-A-T	c.2451T>A	p.H817Q	Missense	23/24	-	1
3-184064779-C-T	c.2446G>A	p.D816N	Missense	23/24	-	5
3-184064784-C-T	c.2441G>A	p.G814E	Missense	23/24	-	1
3-184064799-A-G	c.2426T>C	p.I809T	Missense	23/24	-	1
3-184064800-T-C	c.2425A>G	p.I809V	Missense	23/24	-	1
3-184064916-C-A	c.2416-107G>T	-	IntronicSNV	-	22/23	3
3-184064916-C-G	c.2416-107G>C	-	IntronicSNV	-	22/23	3
3-184065064-G-A	c.2416-255C>T	-	IntronicSNV	-	22/23	1
3-184068082-C-G	c.2415+1719G>C	-	IntronicSNV	-	22/23	1
3-184069593-A-T	c.2415+208T>A	-	IntronicSNV	-	22/23	1
3-184069594-C-T	c.2415+207G>A	-	IntronicSNV	-	22/23	1
3-184069654-G-A	c.2415+147C>T	-	IntronicSNV	-	22/23	2
3-184069654-G-C	c.2415+147C>G	-	IntronicSNV	-	22/23	1
3-184069749-C-T	c.2415+52G>A	-	IntronicSNV	-	22/23	1
3-184069801-C-T	c.2415G>A	p.K805=	Synonymous	22/24	-	3
3-184069802-T-G	c.2414A>C	p.K805T	Missense	22/24	-	3
3-184069803-T-A	c.2413A>T	p.K805*	Nonsense	22/24	-	1
3-184069813-G-A	c.2403C>T	p.T801=	Synonymous	22/24	-	1
3-184069817-C-T	c.2399G>A	p.R800Q	Missense	22/24	-	1
3-184069822-C-A	c.2394G>T	p.V798=	Synonymous	22/24	-	1
3-184069830-G-A	c.2386C>T	p.Q796*	Nonsense	22/24	-	2
3-184069834-G-A	c.2382C>T	p.P794=	Synonymous	22/24	-	1
3-184069834-G-C	c.2382C>G	p.P794=	Synonymous	22/24	-	1
3-184069834-G-T	c.2382C>A	p.P794=	Synonymous	22/24	-	1
3-184069835-G-A	c.2381C>T	p.P794L	Missense	22/24	-	4
3-184069837-A-C	c.2379T>G	p.A793=	Synonymous	22/24	-	1
3-184069837-A-G	c.2379T>C	p.A793=	Synonymous	22/24	-	3
3-184069837-A-T	c.2379T>A	p.A793=	Synonymous	22/24	-	1
3-184069839-C-T	c.2377G>A	p.A793T	Missense	22/24	-	1
3-184069840-A-AG	c.2375dup	p.A793Cfs*74	Frameshift	22/24	-	1
3-184069842-G-A	c.2374C>T	p.P792S	Missense	22/24	-	1
3-184069843-A-G	c.2373T>C	p.D791=	Synonymous	22/24	-	1
3-184069846-A-G	c.2370T>C	p.I790=	Synonymous	22/24	-	1
3-184069846-A-T	c.2370T>A	p.I790=	Synonymous	22/24	-	1
3-184069847-A-G	c.2369T>C	p.I790T	Missense	22/24	-	5
3-184069850-T-C	c.2366A>G	p.K789R	Missense	22/24	-	1
3-184069853-C-A	c.2363G>T	p.C788F	Missense	22/24	-	1
3-184069853-C-T	c.2363G>A	p.C788Y	Missense	22/24	-	1
3-184069855-GTC-TTA	c.2359_2361delinsTAA	p.D787*	Nonsense	22/24	-	1
3-184069859-C-G	c.2357G>C	p.S786T	Missense	22/24	-	1
3-184069859-C-T	c.2357G>A	p.S786N	Missense	22/24	-	1
3-184069861-G-A	c.2355C>T	p.F785=	Synonymous	22/24	-	2
3-184069861-GA-TT	c.2354_2355delinsAA	p.F785*	Nonsense	22/24	-	1
3-184069862-AA-GC	c.2353_2354delinsGC	p.F785A	Missense	22/24	-	1
3-184069865-T-C	c.2351A>G	p.N784S	Missense	22/24	-	1
3-184069871-G-A	c.2345C>T	p.P782L	Missense	22/24	-	1
3-184069881-G-A	c.2335C>T	p.L779=	Synonymous	22/24	-	1
3-184069893-C-T	c.2323G>A	p.E775K	Missense	22/24	-	2
3-184069894-C-T	c.2322G>A	p.W774*	Nonsense	22/24	-	2
3-184069895-C-T	c.2321G>A	p.W774*	Nonsense	22/24	-	2
3-184069902-G-T	c.2314C>A	p.L772M	Missense	22/24	-	4
3-184070076-C-A	c.2310+5G>T	-	IntronicSNV	-	21/23	1
3-184070083-C-A	c.2308G>T	p.E770*	Nonsense	21/24	-	2
3-184070088-G-A	c.2303C>T	p.P768L	Missense	21/24	-	1
3-184070092-T-C	c.2299A>G	p.S767G	Missense	21/24	-	1
3-184070096-C-A	c.2295G>T	p.E765D	Missense	21/24	-	1
3-184070096-C-G	c.2295G>C	p.E765D	Missense	21/24	-	1
3-184070097-T-C	c.2294A>G	p.E765G	Missense	21/24	-	1
3-184070098-C-T	c.2293G>A	p.E765K	Missense	21/24	-	3
3-184070103-T-C	c.2288A>G	p.E763G	Missense	21/24	-	1
3-184070104-C-T	c.2287G>A	p.E763K	Missense	21/24	-	2
3-184070108-G-C	c.2283C>G	p.D761E	Missense	21/24	-	1
3-184070108-G-T	c.2283C>A	p.D761E	Missense	21/24	-	1
3-184070111-C-A	c.2280G>T	p.A760=	Synonymous	21/24	-	2
3-184070111-C-G	c.2280G>C	p.A760=	Synonymous	21/24	-	1
3-184070111-C-T	c.2280G>A	p.A760=	Synonymous	21/24	-	1
3-184070112-G-A	c.2279C>T	p.A760V	Missense	21/24	-	1
3-184070113-C-T	c.2278G>A	p.A760T	Missense	21/24	-	1
3-184070118-C-T	c.2273G>A	p.S758N	Missense	21/24	-	2
3-184070223-A-C	c.2271+8T>G	-	IntronicSNV	-	20/23	1
3-184070229-A-G	c.2271+2T>C	-	IntronicSNV	-	20/23	1
3-184070230-C-A	c.2271+1G>T	-	IntronicSNV	-	20/23	1
3-184070231-T-C	c.2271A>G	p.A757=	Synonymous	20/24	-	1
3-184070244-C-G	c.2258G>C	p.R753P	Missense	20/24	-	1
3-184070244-CG-GT	c.2257_2258delinsAC	p.R753T	Missense	20/24	-	1
3-184070245-G-A	c.2257C>T	p.R753*	Nonsense	20/24	-	2
3-184070249-ACG-TCA	c.2251_2253delinsTGA	p.R751*	Nonsense	20/24	-	2
3-184070251-G-A	c.2251C>T	p.R751C	Missense	20/24	-	1
3-184070252-C-A	c.2250G>T	p.K750N	Missense	20/24	-	1
3-184070252-C-G	c.2250G>C	p.K750N	Missense	20/24	-	1
3-184070254-T-C	c.2248A>G	p.K750E	Missense	20/24	-	1
3-184070257-G-T	c.2245C>A	p.L749M	Missense	20/24	-	1
3-184070258-C-A	c.2244G>T	p.K748N	Missense	20/24	-	1
3-184070258-C-G	c.2244G>C	p.K748N	Missense	20/24	-	1
3-184070258-C-T	c.2244G>A	p.K748=	Synonymous	20/24	-	1
3-184070259-T-C	c.2243A>G	p.K748R	Missense	20/24	-	1
3-184070262-C-T	c.2240G>A	p.R747H	Missense	20/24	-	2
3-184070268-T-C	c.2234A>G	p.E745G	Missense	20/24	-	1
3-184070269-C-T	c.2233G>A	p.E745K	Missense	20/24	-	1
3-184070272-A-G	c.2230T>C	p.C744R	Missense	20/24	-	2
3-184070291-T-C	c.2218-7A>G	-	IntronicSNV	-	19/23	1
3-184070526-T-C	c.2216A>G	p.E739G	Missense	19/24	-	1
3-184070527-C-T	c.2215G>A	p.E739K	Missense	19/24	-	3
3-184070528-C-G	c.2214G>C	p.S738=	Synonymous	19/24	-	1
3-184070528-C-T	c.2214G>A	p.S738=	Synonymous	19/24	-	1
3-184070531-A-G	c.2211T>C	p.A737=	Synonymous	19/24	-	1
3-184070532-G-A	c.2210C>T	p.A737V	Missense	19/24	-	1
3-184070535-G-A	c.2207C>T	p.A736V	Missense	19/24	-	1
3-184070541-G-A	c.2201C>T	p.P734L	Missense	19/24	-	1
3-184070544-G-C	c.2198C>G	p.P733R	Missense	19/24	-	1
3-184070545-G-A	c.2197C>T	p.P733S	Missense	19/24	-	1
3-184070545-G-C	c.2197C>G	p.P733A	Missense	19/24	-	1
3-184070545-G-T	c.2197C>A	p.P733T	Missense	19/24	-	2
3-184070552-G-C	c.2190C>G	p.G730=	Synonymous	19/24	-	1
3-184070553-C-T	c.2189G>A	p.G730D	Missense	19/24	-	1
3-184070554-C-T	c.2188G>A	p.G730S	Missense	19/24	-	1
3-184070556-C-T	c.2186G>A	p.C729Y	Missense	19/24	-	1
3-184070561-G-A	c.2181C>T	p.L727=	Synonymous	19/24	-	1
3-184070561-G-C	c.2181C>G	p.L727=	Synonymous	19/24	-	1
3-184070561-G-T	c.2181C>A	p.L727=	Synonymous	19/24	-	1
3-184070564-G-A	c.2178C>T	p.S726=	Synonymous	19/24	-	1
3-184070569-G-A	c.2173C>T	p.R725W	Missense	19/24	-	2
3-184070571-A-G	c.2171T>C	p.L724P	Missense	19/24	-	4
3-184070573-G-A	c.2169C>T	p.A723=	Synonymous	19/24	-	1
3-184070575-C-T	c.2167G>A	p.A723T	Missense	19/24	-	2
3-184070580-CC-TT	c.2161_2162delinsAA	p.G721N	Missense	19/24	-	1
3-184070583-G-A	c.2159C>T	p.A720V	Missense	19/24	-	1
3-184070586-G-A	c.2156C>T	p.S719L	Missense	19/24	-	2
3-184070588-C-A	c.2154G>T	p.E718D	Missense	19/24	-	5
3-184070588-C-G	c.2154G>C	p.E718D	Missense	19/24	-	14
3-184070591-CT-C	c.2151del	p.E718Sfs*32	Frameshift	19/24	-	1
3-184070594-G-A	c.2148C>T	p.S716=	Synonymous	19/24	-	2
3-184070597-C-G	c.2145G>C	p.G715=	Synonymous	19/24	-	1
3-184070598-C-T	c.2144G>A	p.G715E	Missense	19/24	-	10
3-184070641-T-C	c.2144-43A>G	-	IntronicSNV	-	18/23	1
3-184070675-A-G	c.2144-77T>C	-	IntronicSNV	-	18/23	5
3-184070675-A-T	c.2144-77T>A	-	IntronicSNV	-	18/23	5
3-184070824-T-A	c.2140A>T	p.T714S	Missense	18/24	-	1
3-184070828-A-G	c.2136T>C	p.S712=	Synonymous	18/24	-	1
3-184070828-ACT-A	c.2134_2135del	p.P713Hfs*22	Frameshift	18/24	-	1
3-184070836-C-A	c.2128G>T	p.G710*	Nonsense	18/24	-	1
3-184070836-C-G	c.2128G>C	p.G710R	Missense	18/24	-	2
3-184070836-C-T	c.2128G>A	p.G710R	Missense	18/24	-	2
3-184070847-G-A	c.2117C>T	p.T706I	Missense	18/24	-	1
3-184070852-A-G	c.2112T>C	p.S704=	Synonymous	18/24	-	1
3-184070860-C-T	c.2104G>A	p.G702R	Missense	18/24	-	1
3-184070863-T-A	c.2101A>T	p.R701W	Missense	18/24	-	2
3-184070865-CTT-C	c.2098_2099del	p.K700Efs*35	Frameshift	18/24	-	1
3-184070869-G-A	c.2095C>T	p.L699F	Missense	18/24	-	3
3-184070881-G-A	c.2083C>T	p.L695=	Synonymous	18/24	-	2
3-184070883-G-A	c.2081C>T	p.P694L	Missense	18/24	-	1
3-184070896-C-CA	c.2067_2068insT	p.E690*	Nonsense	18/24	-	1
3-184070896-C-T	c.2068G>A	p.E690K	Missense	18/24	-	5
3-184070897-C-T	c.2067G>A	p.G689=	Synonymous	18/24	-	3
3-184070900-C-T	c.2064G>A	p.R688=	Synonymous	18/24	-	3
3-184070895-TC-T	c.2068del	p.E690Rfs*6	Frameshift	18/24	-	4
3-184070901-C-A	c.2063G>T	p.R688L	Missense	18/24	-	5
3-184070901-C-G	c.2063G>C	p.R688P	Missense	18/24	-	5
3-184070901-C-T	c.2063G>A	p.R688Q	Missense	18/24	-	12
3-184070902-G-A	c.2062C>T	p.R688W	Missense	18/24	-	2
3-184070902-G-C	c.2062C>G	p.R688G	Missense	18/24	-	1
3-184070904-G-A	c.2060C>T	p.A687V	Missense	18/24	-	1
3-184070904-G-T	c.2060C>A	p.A687D	Missense	18/24	-	1
3-184070907-G-A	c.2057C>T	p.A686V	Missense	18/24	-	1
3-184070912-G-A	c.2052C>T	p.F684=	Synonymous	18/24	-	1
3-184070919-G-A	c.2045C>T	p.S682L	Missense	18/24	-	1
3-184070921-G-C	c.2043C>G	p.D681E	Missense	18/24	-	1
3-184070922-T-G	c.2042A>C	p.D681A	Missense	18/24	-	1
3-184070926-C-T	c.2038G>A	p.E680K	Missense	18/24	-	1
3-184070929-T-A	c.2035A>T	p.T679S	Missense	18/24	-	4
3-184070935-C-T	c.2029G>A	p.V677M	Missense	18/24	-	1
3-184071017-G-A	c.2028+21C>T	-	IntronicSNV	-	17/23	3
3-184071019-T-C	c.2028+19A>G	-	IntronicSNV	-	17/23	3
3-184071043-A-G	c.2023T>C	p.F675L	Missense	17/24	-	1
3-184071049-C-A	c.2017G>T	p.V673F	Missense	17/24	-	1
3-184071051-GA-AG	c.2014_2015delinsCT	p.S672L	Missense	17/24	-	1
3-184071059-CAG-C	c.2006_2007del	p.P669Rfs*66	Frameshift	17/24	-	1
3-184071062-G-A	c.2004C>T	p.T668=	Synonymous	17/24	-	2
3-184071062-G-C	c.2004C>G	p.T668=	Synonymous	17/24	-	2
3-184071062-G-T	c.2004C>A	p.T668=	Synonymous	17/24	-	2
3-184071063-G-C	c.2003C>G	p.T668S	Missense	17/24	-	40
3-184071063-G-T	c.2003C>A	p.T668N	Missense	17/24	-	10
3-184071064-T-A	c.2002A>T	p.T668S	Missense	17/24	-	6
3-184071064-T-C	c.2002A>G	p.T668A	Missense	17/24	-	1
3-184071065-AG-A	c.2000del	p.P667Lfs*11	Frameshift	17/24	-	2
3-184071070-G-A	c.1996C>T	p.P666S	Missense	17/24	-	1
3-184071075-T-A	c.1991A>T	p.E664V	Missense	17/24	-	4
3-184071076-C-T	c.1990G>A	p.E664K	Missense	17/24	-	1
3-184071085-A-G	c.1981T>C	p.S661P	Missense	17/24	-	2
3-184071085-A-T	c.1981T>A	p.S661T	Missense	17/24	-	1
3-184071086-T-C	c.1980A>G	p.L660=	Synonymous	17/24	-	1
3-184071086-T-G	c.1980A>C	p.L660=	Synonymous	17/24	-	1
3-184071089-T-C	c.1977A>G	p.P659=	Synonymous	17/24	-	1
3-184071090-G-T	c.1976C>A	p.P659Q	Missense	17/24	-	2
3-184071091-G-A	c.1975C>T	p.P659S	Missense	17/24	-	1
3-184071108-C-G	c.1958G>C	p.R653T	Missense	17/24	-	5
3-184071111-C-T	c.1955G>A	p.R652H	Missense	17/24	-	7
3-184071113-C-A	c.1953G>T	p.E651D	Missense	17/24	-	1
3-184071113-C-G	c.1953G>C	p.E651D	Missense	17/24	-	1
3-184071114-T-A	c.1952A>T	p.E651V	Missense	17/24	-	1
3-184071115-C-T	c.1951G>A	p.E651K	Missense	17/24	-	1
3-184071119-C-A	c.1947G>T	p.M649I	Missense	17/24	-	1
3-184071119-C-G	c.1947G>C	p.M649I	Missense	17/24	-	1
3-184071119-C-T	c.1947G>A	p.M649I	Missense	17/24	-	1
3-184071121-T-C	c.1945A>G	p.M649V	Missense	17/24	-	1
3-184071122-G-A	c.1944C>T	p.H648=	Synonymous	17/24	-	1
3-184071124-G-A	c.1942C>T	p.H648Y	Missense	17/24	-	1
3-184071127-G-C	c.1939C>G	p.Q647E	Missense	17/24	-	1
3-184071128-CCG-ACA	c.1936_1938delinsTGT	p.R646C	Missense	17/24	-	1
3-184071127-G-GCCT	c.1938_1939insAGG	p.R646dup	InFrameInsertion	17/24	-	3
3-184071129-C-G	c.1937G>C	p.R646P	Missense	17/24	-	1
3-184071129-C-T	c.1937G>A	p.R646Q	Missense	17/24	-	3
3-184071130-G-A	c.1936C>T	p.R646W	Missense	17/24	-	1
3-184071129-C-CGCG	c.1936_1937insCGC	p.R645_R646insP	InFrameInsertion	17/24	-	2
3-184071131-CCG-GCT	c.1933_1935delinsAGC	p.R645S	Missense	17/24	-	1
3-184071131-C-CCAG	c.1934_1935insCTG	p.R645_R646insW	InFrameInsertion	17/24	-	1
3-184071132-C-T	c.1934G>A	p.R645Q	Missense	17/24	-	2
3-184071131-C-A	c.1935G>T	p.R645=	Synonymous	17/24	-	1
3-184071131-C-G	c.1935G>C	p.R645=	Synonymous	17/24	-	1
3-184071131-C-T	c.1935G>A	p.R645=	Synonymous	17/24	-	1
3-184071133-G-A	c.1933C>T	p.R645W	Missense	17/24	-	1
3-184071133-G-T	c.1933C>A	p.R645=	Synonymous	17/24	-	1
3-184071134-G-A	c.1932C>T	p.R644=	Synonymous	17/24	-	1
3-184071134-G-C	c.1932C>G	p.R644=	Synonymous	17/24	-	1
3-184071134-GCG-TCA	c.1930_1932delinsTGA	p.R644*	Nonsense	17/24	-	1
3-184071134-GC-TT	c.1931_1932delinsAA	p.R644Q	Missense	17/24	-	6
3-184071134-G-T	c.1932C>A	p.R644=	Synonymous	17/24	-	1
3-184071135-C-T	c.1931G>A	p.R644H	Missense	17/24	-	7
3-184071136-G-A	c.1930C>T	p.R644C	Missense	17/24	-	12
3-184071136-G-GACC	c.1929_1930insGGT	p.A643_R644insG	InFrameInsertion	17/24	-	1
3-184071136-G-T	c.1930C>A	p.R644S	Missense	17/24	-	1
3-184071137-G-A	c.1929C>T	p.A643=	Synonymous	17/24	-	1
3-184071137-G-C	c.1929C>G	p.A643=	Synonymous	17/24	-	1
3-184071137-G-T	c.1929C>A	p.A643=	Synonymous	17/24	-	1
3-184071138-G-A	c.1928C>T	p.A643V	Missense	17/24	-	3
3-184071138-G-T	c.1928C>A	p.A643D	Missense	17/24	-	1
3-184071144-C-T	c.1922G>A	p.S641N	Missense	17/24	-	3
3-184071155-C-A	c.1911G>T	p.G637=	Synonymous	17/24	-	1
3-184071159-AA-GC	c.1906_1907delinsGC	p.L636A	Missense	17/24	-	1
3-184071159-A-G	c.1907T>C	p.L636S	Missense	17/24	-	1
3-184071162-AA-GC	c.1903_1904delinsGC	p.L635A	Missense	17/24	-	1
3-184071162-A-G	c.1904T>C	p.L635S	Missense	17/24	-	1
3-184071164-T-A	c.1902A>T	p.A634=	Synonymous	17/24	-	2
3-184071164-T-C	c.1902A>G	p.A634=	Synonymous	17/24	-	1
3-184071164-T-G	c.1902A>C	p.A634=	Synonymous	17/24	-	1
3-184071166-C-A	c.1900G>T	p.A634S	Missense	17/24	-	1
3-184071172-C-T	c.1894G>A	p.V632M	Missense	17/24	-	1
3-184071179-ACG-CCA	c.1885_1887delinsTGG	p.R629W	Missense	17/24	-	1
3-184071180-C-T	c.1886G>A	p.R629H	Missense	17/24	-	1
3-184071181-G-A	c.1885C>T	p.R629C	Missense	17/24	-	2
3-184071180-C-CGCG	c.1885_1886insCGC	p.E628_R629insP	InFrameInsertion	17/24	-	2
3-184071182-C-CCGG	c.1883_1884insCCG	p.E628delinsDR	MultiAAMissense	17/24	-	1
3-184071184-C-T	c.1882G>A	p.E628K	Missense	17/24	-	1
3-184071187-T-C	c.1879A>G	p.I627V	Missense	17/24	-	1
3-184071187-T-TGCG	c.1878_1879insCGC	p.S626_I627insR	InFrameInsertion	17/24	-	1
3-184071189-G-A	c.1877C>T	p.S626F	Missense	17/24	-	1
3-184071195-AG-GC	c.1870_1871delinsGC	p.L624A	Missense	17/24	-	1
3-184071198-AG-GC	c.1867_1868delinsGC	p.L623A	Missense	17/24	-	1
3-184071199-G-T	c.1867C>A	p.L623M	Missense	17/24	-	1
3-184071201-AT-GC	c.1864_1865delinsGC	p.I622A	Missense	17/24	-	1
3-184071207-G-C	c.1859C>G	p.S620C	Missense	17/24	-	1
3-184071208-A-C	c.1858T>G	p.S620A	Missense	17/24	-	1
3-184071210-T-G	c.1856A>C	p.E619A	Missense	17/24	-	1
3-184071455-G-A	c.1850C>T	p.S617F	Missense	16/24	-	1
3-184071456-A-T	c.1849T>A	p.S617T	Missense	16/24	-	1
3-184071457-C-A	c.1848G>T	p.E616D	Missense	16/24	-	1
3-184071459-C-G	c.1846G>C	p.E616Q	Missense	16/24	-	1
3-184071461-A-G	c.1844T>C	p.V615A	Missense	16/24	-	1
3-184071465-G-A	c.1840C>T	p.L614=	Synonymous	16/24	-	1
3-184071466-G-A	c.1839C>T	p.A613=	Synonymous	16/24	-	1
3-184071466-G-C	c.1839C>G	p.A613=	Synonymous	16/24	-	1
3-184071466-G-T	c.1839C>A	p.A613=	Synonymous	16/24	-	1
3-184071474-T-A	c.1831A>T	p.M611L	Missense	16/24	-	1
3-184071474-T-G	c.1831A>C	p.M611L	Missense	16/24	-	1
3-184071475-T-C	c.1830A>G	p.R610=	Synonymous	16/24	-	1
3-184071476-C-T	c.1829G>A	p.R610Q	Missense	16/24	-	1
3-184071477-G-A	c.1828C>T	p.R610*	Nonsense	16/24	-	1
3-184071479-C-T	c.1826G>A	p.G609D	Missense	16/24	-	1
3-184071490-G-C	c.1815C>G	p.H605Q	Missense	16/24	-	1
3-184071495-G-C	c.1810C>G	p.L604V	Missense	16/24	-	1
3-184071499-C-A	c.1806G>T	p.L602F	Missense	16/24	-	3
3-184071499-C-G	c.1806G>C	p.L602F	Missense	16/24	-	3
3-184071501-A-ACGG	c.1803_1804insCCG	p.R601_L602insP	InFrameInsertion	16/24	-	2
3-184071502-A-C	c.1803T>G	p.R601=	Synonymous	16/24	-	1
3-184071502-A-G	c.1803T>C	p.R601=	Synonymous	16/24	-	1
3-184071502-A-T	c.1803T>A	p.R601=	Synonymous	16/24	-	1
3-184071502-A-ACGG	c.1802_1803insCCG	p.R601dup	InFrameInsertion	16/24	-	1
3-184071506-A-AGCG	c.1798_1799insCGC	p.D599_L600insP	InFrameInsertion	16/24	-	1
3-184071507-G-A	c.1798C>T	p.L600=	Synonymous	16/24	-	1
3-184071506-A-AGGC	c.1798_1799insGCC	p.D599_L600insR	InFrameInsertion	16/24	-	1
3-184071510-C-A	c.1795G>T	p.D599Y	Missense	16/24	-	2
3-184071510-C-T	c.1795G>A	p.D599N	Missense	16/24	-	9
3-184071512-C-T	c.1793G>A	p.R598Q	Missense	16/24	-	1
3-184071513-G-A	c.1792C>T	p.R598W	Missense	16/24	-	1
3-184071517-G-T	c.1788C>A	p.T596=	Synonymous	16/24	-	1
3-184071525-T-A	c.1780A>T	p.S594C	Missense	16/24	-	1
3-184071526-G-A	c.1779C>T	p.L593=	Synonymous	16/24	-	1
3-184071526-G-C	c.1779C>G	p.L593=	Synonymous	16/24	-	1
3-184071526-G-T	c.1779C>A	p.L593=	Synonymous	16/24	-	1
3-184071528-G-A	c.1777C>T	p.L593F	Missense	16/24	-	1
3-184071530-G-C	c.1775C>G	p.A592G	Missense	16/24	-	1
3-184071531-C-T	c.1774G>A	p.A592T	Missense	16/24	-	1
3-184071536-T-G	c.1769A>C	p.H590P	Missense	16/24	-	6
3-184071539-G-C	c.1766C>G	p.P589R	Missense	16/24	-	1
3-184071540-G-A	c.1765C>T	p.P589S	Missense	16/24	-	2
3-184071547-C-A	c.1758G>T	p.R586=	Synonymous	16/24	-	1
3-184071547-C-T	c.1758G>A	p.R586=	Synonymous	16/24	-	1
3-184071548-C-T	c.1757G>A	p.R586Q	Missense	16/24	-	1
3-184071549-G-A	c.1756C>T	p.R586W	Missense	16/24	-	2
3-184071561-C-T	c.1744G>A	p.D582N	Missense	16/24	-	6
3-184071564-C-T	c.1741G>A	p.E581K	Missense	16/24	-	1
3-184071565-C-G	c.1740G>C	p.V580=	Synonymous	16/24	-	1
3-184071568-ACG-CCA	c.1735_1737delinsTGG	p.R579W	Missense	16/24	-	1
3-184071568-A-T	c.1737T>A	p.R579=	Synonymous	16/24	-	1
3-184071569-C-T	c.1736G>A	p.R579H	Missense	16/24	-	5
3-184071570-G-A	c.1735C>T	p.R579C	Missense	16/24	-	1
3-184071575-C-G	c.1730G>C	p.R577P	Missense	16/24	-	2
3-184071575-CG-TA	c.1729_1730delinsTA	p.R577*	Nonsense	16/24	-	1
3-184071575-C-T	c.1730G>A	p.R577Q	Missense	16/24	-	9
3-184071576-G-A	c.1729C>T	p.R577W	Missense	16/24	-	1
3-184071580-C-T	c.1725G>A	p.Q575=	Synonymous	16/24	-	1
3-184071891-GTG-TTA	c.1717_1719delinsTAA	p.H573*	Nonsense	15/24	-	3
3-184071895-C-T	c.1715G>A	p.R572H	Missense	15/24	-	1
3-184071900-C-T	c.1710G>A	p.W570*	Nonsense	15/24	-	4
3-184071901-C-T	c.1709G>A	p.W570*	Nonsense	15/24	-	11
3-184071905-C-CT	c.1704_1705insA	p.G569Rfs*51	Frameshift	15/24	-	1
3-184071905-C-T	c.1705G>A	p.G569S	Missense	15/24	-	1
3-184071906-G-A	c.1704C>T	p.L568=	Synonymous	15/24	-	2
3-184071906-G-GA	c.1703dup	p.G569Rfs*51	Frameshift	15/24	-	1
3-184071914-G-A	c.1696C>T	p.P566S	Missense	15/24	-	2
3-184071917-G-A	c.1693C>T	p.L565=	Synonymous	15/24	-	2
3-184071921-G-A	c.1689C>T	p.P563=	Synonymous	15/24	-	1
3-184071924-C-A	c.1686G>T	p.L562=	Synonymous	15/24	-	1
3-184071924-C-G	c.1686G>C	p.L562=	Synonymous	15/24	-	1
3-184071924-C-T	c.1686G>A	p.L562=	Synonymous	15/24	-	1
3-184071926-G-A	c.1684C>T	p.L562=	Synonymous	15/24	-	1
3-184071926-G-T	c.1684C>A	p.L562M	Missense	15/24	-	1
3-184071932-T-C	c.1678A>G	p.K560E	Missense	15/24	-	1
3-184071935-T-G	c.1675A>C	p.I559L	Missense	15/24	-	1
3-184071934-A-AT	c.1675dup	p.I559Nfs*9	Frameshift	15/24	-	1
3-184071936-TC-AT	c.1673_1674delinsAT	p.R558H	Missense	15/24	-	1
3-184071937-C-T	c.1673G>A	p.R558Q	Missense	15/24	-	4
3-184071938-G-A	c.1672C>T	p.R558*	Nonsense	15/24	-	1
3-184071950-C-T	c.1660G>A	p.D554N	Missense	15/24	-	1
3-184071954-G-C	c.1656C>G	p.L552=	Synonymous	15/24	-	1
3-184071956-G-A	c.1654C>T	p.L552F	Missense	15/24	-	2
3-184071957-G-A	c.1653C>T	p.S551=	Synonymous	15/24	-	1
3-184071957-GG-TT	c.1652_1653delinsAA	p.S551*	Nonsense	15/24	-	1
3-184071966-C-A	c.1644G>T	p.L548=	Synonymous	15/24	-	1
3-184071966-C-G	c.1644G>C	p.L548=	Synonymous	15/24	-	1
3-184071966-C-T	c.1644G>A	p.L548=	Synonymous	15/24	-	1
3-184071968-G-A	c.1642C>T	p.L548=	Synonymous	15/24	-	1
3-184071974-G-T	c.1636C>A	p.Q546K	Missense	15/24	-	1
3-184071977-C-A	c.1633G>T	p.A545S	Missense	15/24	-	1
3-184071977-C-G	c.1633G>C	p.A545P	Missense	15/24	-	2
3-184071977-C-T	c.1633G>A	p.A545T	Missense	15/24	-	2
3-184071982-G-A	c.1628C>T	p.A543V	Missense	15/24	-	1
3-184071983-C-T	c.1627G>A	p.A543T	Missense	15/24	-	1
3-184071984-G-A	c.1626C>T	p.N542=	Synonymous	15/24	-	3
3-184071990-C-A	c.1620G>T	p.L540=	Synonymous	15/24	-	1
3-184071990-C-G	c.1620G>C	p.L540=	Synonymous	15/24	-	1
3-184071990-C-T	c.1620G>A	p.L540=	Synonymous	15/24	-	1
3-184071992-G-A	c.1618C>T	p.L540=	Synonymous	15/24	-	1
3-184071998-C-T	c.1612G>A	p.V538I	Missense	15/24	-	1
3-184072000-G-A	c.1610C>T	p.A537V	Missense	15/24	-	2
3-184072005-C-T	c.1605G>A	p.M535I	Missense	15/24	-	1
3-184072006-A-G	c.1604T>C	p.M535T	Missense	15/24	-	1
3-184072007-T-C	c.1603A>G	p.M535V	Missense	15/24	-	1
3-184072009-A-G	c.1601T>C	p.V534A	Missense	15/24	-	1
3-184072010-C-G	c.1600G>C	p.V534L	Missense	15/24	-	2
3-184072012-G-C	c.1598C>G	p.P533R	Missense	15/24	-	1
3-184072018-A-T	c.1592T>A	p.I531N	Missense	15/24	-	1
3-184072024-G-A	c.1586C>T	p.A529V	Missense	15/24	-	1
3-184072029-C-A	c.1581G>T	p.Q527H	Missense	15/24	-	1
3-184072029-C-G	c.1581G>C	p.Q527H	Missense	15/24	-	1
3-184072033-C-T	c.1577G>A	p.G526D	Missense	15/24	-	1
3-184072038-G-A	c.1572C>T	p.L524=	Synonymous	15/24	-	1
3-184072038-G-GA	c.1571dup	p.T525Hfs*30	Frameshift	15/24	-	1
3-184072039-AG-CA	c.1570_1571delinsTG	p.L524C	Missense	15/24	-	1
3-184072039-AG-CT	c.1570_1571inv	p.L524S	Missense	15/24	-	1
3-184072040-G-GC	c.1569dup	p.L524Afs*31	Frameshift	15/24	-	1
3-184072042-T-TA	c.1567_1568insT	p.E523Vfs*32	Frameshift	15/24	-	1
3-184072044-G-A	c.1566C>T	p.F522=	Synonymous	15/24	-	1
3-184072044-G-C	c.1566C>G	p.F522L	Missense	15/24	-	1
3-184072044-G-T	c.1566C>A	p.F522L	Missense	15/24	-	1
3-184072046-A-G	c.1564T>C	p.F522L	Missense	15/24	-	1
3-184072049-C-T	c.1561G>A	p.V521M	Missense	15/24	-	1
3-184072050-G-A	c.1560C>T	p.I520=	Synonymous	15/24	-	1
3-184072050-G-T	c.1560C>A	p.I520=	Synonymous	15/24	-	1
3-184072053-CAC-AAA	c.1555_1557delinsTTT	p.V519F	Missense	15/24	-	1
3-184072061-T-C	c.1549A>G	p.T517A	Missense	15/24	-	1
3-184072062-G-T	c.1548C>A	p.S516=	Synonymous	15/24	-	1
3-184072067-C-T	c.1543G>A	p.V515M	Missense	15/24	-	2
3-184072070-T-C	c.1540A>G	p.T514A	Missense	15/24	-	2
3-184072077-C-A	c.1533G>T	p.V511=	Synonymous	15/24	-	1
3-184072077-C-G	c.1533G>C	p.V511=	Synonymous	15/24	-	1
3-184072077-C-T	c.1533G>A	p.V511=	Synonymous	15/24	-	1
3-184072079-C-T	c.1531G>A	p.V511M	Missense	15/24	-	2
3-184072081-G-A	c.1529C>T	p.A510V	Missense	15/24	-	6
3-184072084-C-A	c.1526G>T	p.G509V	Missense	15/24	-	1
3-184072085-C-T	c.1525G>A	p.G509R	Missense	15/24	-	1
3-184072089-CAG-AAA	c.1519_1521delinsTTT	p.L507F	Missense	15/24	-	1
3-184072093-G-A	c.1517C>T	p.A506V	Missense	15/24	-	2
3-184072306-C-A	c.1507+30G>T	-	IntronicSNV	-	14/23	1
3-184072336-C-A	c.1507G>T	p.G503W	Missense	14/24	-	1
3-184072336-C-G	c.1507G>C	p.G503R	Missense	14/24	-	3
3-184072336-C-T	c.1507G>A	p.G503R	Missense	14/24	-	6
3-184072338-A-T	c.1505T>A	p.V502D	Missense	14/24	-	1
3-184072341-A-C	c.1502T>G	p.V501G	Missense	14/24	-	1
3-184072342-C-A	c.1501G>T	p.V501L	Missense	14/24	-	1
3-184072344-G-A	c.1499C>T	p.A500V	Missense	14/24	-	5
3-184072344-G-T	c.1499C>A	p.A500D	Missense	14/24	-	2
3-184072348-A-C	c.1495T>G	p.Y499D	Missense	14/24	-	1
3-184072350-C-A	c.1493G>T	p.G498V	Missense	14/24	-	1
3-184072350-C-T	c.1493G>A	p.G498D	Missense	14/24	-	1
3-184072351-C-A	c.1492G>T	p.G498C	Missense	14/24	-	1
3-184072352-CCC-GCT	c.1489_1491delinsAGC	p.G497S	Missense	14/24	-	1
3-184072361-A-G	c.1482T>C	p.I494=	Synonymous	14/24	-	1
3-184072361-A-T	c.1482T>A	p.I494=	Synonymous	14/24	-	1
3-184072362-A-G	c.1481T>C	p.I494T	Missense	14/24	-	1
3-184072370-GG-CA	c.1472_1473delinsTG	p.T491M	Missense	14/24	-	1
3-184072372-T-G	c.1471A>C	p.T491P	Missense	14/24	-	1
3-184072374-C-T	c.1469G>A	p.S490N	Missense	14/24	-	1
3-184072375-T-C	c.1468A>G	p.S490G	Missense	14/24	-	1
3-184072378-T-A	c.1465A>T	p.S489C	Missense	14/24	-	1
3-184072381-C-T	c.1462G>A	p.D488N	Missense	14/24	-	1
3-184072385-A-C	c.1458T>G	p.H486Q	Missense	14/24	-	1
3-184072385-A-T	c.1458T>A	p.H486Q	Missense	14/24	-	1
3-184072387-G-A	c.1456C>T	p.H486Y	Missense	14/24	-	3
3-184072388-A-G	c.1455T>C	p.I485=	Synonymous	14/24	-	1
3-184072388-A-T	c.1455T>A	p.I485=	Synonymous	14/24	-	1
3-184072390-T-G	c.1453A>C	p.I485L	Missense	14/24	-	2
3-184072392-C-T	c.1451G>A	p.G484E	Missense	14/24	-	1
3-184072400-GAA-TTG	c.1441_1443delinsCAA	p.F481Q	Missense	14/24	-	1
3-184072401-A-T	c.1442T>A	p.F481Y	Missense	14/24	-	1
3-184072414-T-C	c.1429A>G	p.M477V	Missense	14/24	-	2
3-184072418-T-C	c.1425A>G	p.E475=	Synonymous	14/24	-	1
3-184072420-C-T	c.1423G>A	p.E475K	Missense	14/24	-	1
3-184072421-AC-CT	c.1421_1422delinsAG	p.G474E	Missense	14/24	-	1
3-184072426-C-A	c.1417G>T	p.V473L	Missense	14/24	-	1
3-184072430-AC-TT	c.1412_1413delinsAA	p.R471Q	Missense	14/24	-	1
3-184072431-C-T	c.1412G>A	p.R471H	Missense	14/24	-	4
3-184072432-G-A	c.1411C>T	p.R471C	Missense	14/24	-	3
3-184072435-C-T	c.1408G>A	p.G470R	Missense	14/24	-	1
3-184072439-T-A	c.1404A>T	p.A468=	Synonymous	14/24	-	1
3-184072439-T-C	c.1404A>G	p.A468=	Synonymous	14/24	-	1
3-184072439-T-G	c.1404A>C	p.A468=	Synonymous	14/24	-	1
3-184072446-C-G	c.1397G>C	p.G466A	Missense	14/24	-	1
3-184072446-C-T	c.1397G>A	p.G466E	Missense	14/24	-	1
3-184072447-C-T	c.1397-1G>A	-	IntronicSNV	-	13/23	1
3-184072459-G-A	c.1397-13C>T	-	IntronicSNV	-	13/23	2
3-184072490-A-G	c.1397-44T>C	-	IntronicSNV	-	13/23	1
3-184072632-G-C	c.1396+60C>G	-	IntronicSNV	-	13/23	3
3-184072632-G-T	c.1396+60C>A	-	IntronicSNV	-	13/23	2
3-184072682-G-A	c.1396+10C>T	-	IntronicSNV	-	13/23	1
3-184072693-A-G	c.1395T>C	p.I465=	Synonymous	13/24	-	1
3-184072693-A-T	c.1395T>A	p.I465=	Synonymous	13/24	-	1
3-184072695-T-C	c.1393A>G	p.I465V	Missense	13/24	-	1
3-184072699-AAA-CAT	c.1387_1389delinsATG	p.F463M	Missense	13/24	-	1
3-184072700-AA-GC	c.1387_1388delinsGC	p.F463A	Missense	13/24	-	1
3-184072699-A-C	c.1389T>G	p.F463L	Missense	13/24	-	1
3-184072699-A-T	c.1389T>A	p.F463L	Missense	13/24	-	1
3-184072701-A-G	c.1387T>C	p.F463L	Missense	13/24	-	1
3-184072706-G-T	c.1382C>A	p.P461H	Missense	13/24	-	1
3-184072709-A-T	c.1379T>A	p.M460K	Missense	13/24	-	1
3-184072709-AT-CA	c.1378_1379delinsTG	p.M460W	Missense	13/24	-	1
3-184072709-AT-GC	c.1378_1379delinsGC	p.M460A	Missense	13/24	-	1
3-184072711-G-A	c.1377C>T	p.F459=	Synonymous	13/24	-	1
3-184072712-AA-GC	c.1375_1376delinsGC	p.F459A	Missense	13/24	-	1
3-184072718-C-T	c.1370G>A	p.G457E	Missense	13/24	-	1
3-184072721-C-G	c.1367G>C	p.C456S	Missense	13/24	-	1
3-184072726-A-C	c.1362T>G	p.V454=	Synonymous	13/24	-	1
3-184072731-G-A	c.1357C>T	p.P453S	Missense	13/24	-	2
3-184072735-G-A	c.1353C>T	p.T451=	Synonymous	13/24	-	1
3-184072740-T-C	c.1348A>G	p.T450A	Missense	13/24	-	1
3-184072741-G-A	c.1347C>T	p.A449=	Synonymous	13/24	-	1
3-184072746-G-A	c.1342C>T	p.L448=	Synonymous	13/24	-	3
3-184072749-C-A	c.1339G>T	p.A447S	Missense	13/24	-	1
3-184072751-G-T	c.1337C>A	p.S446Y	Missense	13/24	-	1
3-184072753-C-T	c.1335G>A	p.M445I	Missense	13/24	-	1
3-184072755-T-A	c.1333A>T	p.M445L	Missense	13/24	-	1
3-184072757-C-CA	c.1330dup	p.W444Lfs*32	Frameshift	13/24	-	1
3-184072787-C-T	c.1327-26G>A	-	IntronicSNV	-	12/23	2
3-184072880-C-A	c.1327-119G>T	-	IntronicSNV	-	12/23	1
3-184072880-C-T	c.1327-119G>A	-	IntronicSNV	-	12/23	1
3-184073163-T-C	c.1325A>G	p.K442R	Missense	12/24	-	1
3-184073166-A-G	c.1322T>C	p.M441T	Missense	12/24	-	1
3-184073167-T-A	c.1321A>T	p.M441L	Missense	12/24	-	1
3-184073167-T-G	c.1321A>C	p.M441L	Missense	12/24	-	1
3-184073169-A-C	c.1319T>G	p.L440R	Missense	12/24	-	2
3-184073169-A-T	c.1319T>A	p.L440H	Missense	12/24	-	1
3-184073170-G-A	c.1318C>T	p.L440F	Missense	12/24	-	2
3-184073178-A-T	c.1310T>A	p.I437N	Missense	12/24	-	1
3-184073180-G-A	c.1308C>T	p.V436=	Synonymous	12/24	-	1
3-184073184-A-C	c.1304T>G	p.L435R	Missense	12/24	-	1
3-184073185-G-T	c.1303C>A	p.L435M	Missense	12/24	-	1
3-184073190-AGGAAGACGTTGGCACGTGGTG-TGT	c.1277_1298delinsACA	p.P426Hfs*10	Frameshift	12/24	-	1
3-184073188-TGAG-T	c.1297_1299del	p.L433del	InFrameDeletion	12/24	-	1
3-184073198-G-A	c.1290C>T	p.N430=	Synonymous	12/24	-	1
3-184073201-G-A	c.1287C>T	p.A429=	Synonymous	12/24	-	1
3-184073201-G-C	c.1287C>G	p.A429=	Synonymous	12/24	-	1
3-184073201-G-T	c.1287C>A	p.A429=	Synonymous	12/24	-	1
3-184073200-TGGCACGTGGTGG-T	c.1276_1287del	p.P426_A429del	InFrameDeletion	12/24	-	1
3-184073201-GGCACGT-G	c.1281_1286del	p.R428_A429del	InFrameDeletion	12/24	-	1
3-184073204-CACGTGG-C	c.1279_1284del	p.P427_R428del	InFrameDeletion	12/24	-	1
3-184073205-C-G	c.1283G>C	p.R428P	Missense	12/24	-	1
3-184073205-C-T	c.1283G>A	p.R428H	Missense	12/24	-	1
3-184073205-CGTGGTG-C	c.1277_1282del	p.P426_P427del	InFrameDeletion	12/24	-	1
3-184073207-TG-T	c.1280del	p.P427Hfs*15	Frameshift	12/24	-	1
3-184073210-GTGGGTT-G	c.1273_1278del	p.N425_P426del	InFrameDeletion	12/24	-	1
3-184073210-TGGGTTCCAGGCCTG-GAGTGTGCT	c.1264_1278delinsAGCACACTC	p.Q422_P426delinsSTL	MultiAAMissense	12/24	-	1
3-184073211-G-GTGTC	c.1276_1277insGACA	p.P426Rfs*51	Frameshift	12/24	-	1
3-184073211-TGGGTTC-T	c.1272_1277del	p.W424_P426delins*	MultiAAMissense	12/24	-	1
3-184073213-GTTCCAGGCCTG-AGTGAT	c.1264_1275delinsATCACT	p.Q422_N425delinsIT	MultiAAMissense	12/24	-	1
3-184073212-GGTTCCA-G	c.1270_1275del	p.W424_N425del	InFrameDeletion	12/24	-	1
3-184073219-G-A	c.1269C>T	p.A423=	Synonymous	12/24	-	2
3-184073229-G-C	c.1259C>G	p.T420S	Missense	12/24	-	1
3-184073235-G-A	c.1253C>T	p.P418L	Missense	12/24	-	1
3-184073237-TG-AT	c.1250_1251delinsAT	p.P417H	Missense	12/24	-	1
3-184073238-G-A	c.1250C>T	p.P417L	Missense	12/24	-	1
3-184073237-T-TG	c.1250dup	p.P418Tfs*58	Frameshift	12/24	-	1
3-184073239-G-C	c.1249C>G	p.P417A	Missense	12/24	-	1
3-184073242-C-A	c.1246G>T	p.E416*	Nonsense	12/24	-	1
3-184073242-C-T	c.1246G>A	p.E416K	Missense	12/24	-	1
3-184073244-A-C	c.1244T>G	p.L415R	Missense	12/24	-	1
3-184073245-G-T	c.1243C>A	p.L415I	Missense	12/24	-	1
3-184073249-C-A	c.1239G>T	p.E413D	Missense	12/24	-	1
3-184073251-C-T	c.1237G>A	p.E413K	Missense	12/24	-	2
3-184073258-G-A	c.1230C>T	p.G410=	Synonymous	12/24	-	1
3-184073258-G-C	c.1230C>G	p.G410=	Synonymous	12/24	-	1
3-184073258-G-T	c.1230C>A	p.G410=	Synonymous	12/24	-	1
3-184073260-C-T	c.1228G>A	p.G410S	Missense	12/24	-	1
3-184073265-C-T	c.1223G>A	p.R408H	Missense	12/24	-	2
3-184073266-G-A	c.1222C>T	p.R408C	Missense	12/24	-	6
3-184073269-C-G	c.1219G>C	p.V407L	Missense	12/24	-	1
3-184073269-C-T	c.1219G>A	p.V407I	Missense	12/24	-	1
3-184073273-C-A	c.1215G>T	p.T405=	Synonymous	12/24	-	1
3-184073273-C-G	c.1215G>C	p.T405=	Synonymous	12/24	-	1
3-184073273-C-T	c.1215G>A	p.T405=	Synonymous	12/24	-	1
3-184073274-G-A	c.1214C>T	p.T405M	Missense	12/24	-	6
3-184073278-G-A	c.1210C>T	p.R404W	Missense	12/24	-	5
3-184073280-T-C	c.1208A>G	p.N403S	Missense	12/24	-	1
3-184073284-C-T	c.1204G>A	p.D402N	Missense	12/24	-	1
3-184073291-G-A	c.1197C>T	p.T399=	Synonymous	12/24	-	1
3-184073291-G-C	c.1197C>G	p.T399=	Synonymous	12/24	-	1
3-184073291-G-T	c.1197C>A	p.T399=	Synonymous	12/24	-	1
3-184073296-C-T	c.1192G>A	p.V398I	Missense	12/24	-	1
3-184073298-AG-GA	c.1189_1190delinsTC	p.L397S	Missense	12/24	-	1
3-184073300-C-A	c.1188G>T	p.T396=	Synonymous	12/24	-	1
3-184073300-C-G	c.1188G>C	p.T396=	Synonymous	12/24	-	1
3-184073300-C-T	c.1188G>A	p.T396=	Synonymous	12/24	-	1
3-184073301-G-A	c.1187C>T	p.T396M	Missense	12/24	-	3
3-184073305-C-A	c.1183G>T	p.E395*	Nonsense	12/24	-	2
3-184073305-C-T	c.1183G>A	p.E395K	Missense	12/24	-	1
3-184073307-T-C	c.1181A>G	p.K394R	Missense	12/24	-	1
3-184073307-TT-GC	c.1180_1181delinsGC	p.K394A	Missense	12/24	-	1
3-184073310-T-G	c.1178A>C	p.Q393P	Missense	12/24	-	1
3-184073313-G-A	c.1175C>T	p.S392L	Missense	12/24	-	1
3-184073314-A-C	c.1174T>G	p.S392A	Missense	12/24	-	1
3-184073314-A-G	c.1174T>C	p.S392P	Missense	12/24	-	1
3-184073315-GAG-CAT	c.1171_1173delinsATG	p.L391M	Missense	12/24	-	1
3-184073316-A-C	c.1172T>G	p.L391R	Missense	12/24	-	1
3-184073317-G-C	c.1171C>G	p.L391V	Missense	12/24	-	1
3-184073483-T-C	c.1169A>G	p.Q390R	Missense	11/24	-	1
3-184073484-G-A	c.1168C>T	p.Q390*	Nonsense	11/24	-	1
3-184073489-G-A	c.1163C>T	p.A388V	Missense	11/24	-	1
3-184073489-G-T	c.1163C>A	p.A388D	Missense	11/24	-	2
3-184073493-T-C	c.1159A>G	p.M387V	Missense	11/24	-	1
3-184073499-G-A	c.1153C>T	p.Q385*	Nonsense	11/24	-	1
3-184073500-T-A	c.1152A>T	p.G384=	Synonymous	11/24	-	1
3-184073500-T-C	c.1152A>G	p.G384=	Synonymous	11/24	-	1
3-184073500-T-G	c.1152A>C	p.G384=	Synonymous	11/24	-	1
3-184073509-CA-C	c.1143del	p.G382Afs*34	Frameshift	11/24	-	4
3-184073510-G-A	c.1142C>T	p.P381L	Missense	11/24	-	1
3-184073511-G-C	c.1141C>G	p.P381A	Missense	11/24	-	4
3-184073509-AG-A	c.1142del	p.P381Lfs*35	Frameshift	11/24	-	8
3-184073516-A-G	c.1136T>C	p.F379S	Missense	11/24	-	1
3-184073515-G-C	c.1137C>G	p.F379L	Missense	11/24	-	1
3-184073515-G-T	c.1137C>A	p.F379L	Missense	11/24	-	1
3-184073517-A-G	c.1135T>C	p.F379L	Missense	11/24	-	1
3-184073526-T-C	c.1126A>G	p.T376A	Missense	11/24	-	1
3-184073528-G-C	c.1124C>G	p.S375C	Missense	11/24	-	1
3-184073534-A-G	c.1118T>C	p.L373P	Missense	11/24	-	2
3-184073535-G-A	c.1117C>T	p.L373F	Missense	11/24	-	2
3-184073544-C-T	c.1108G>A	p.V370M	Missense	11/24	-	1
3-184073551-C-A	c.1101G>T	p.P367=	Synonymous	11/24	-	6
3-184073551-C-T	c.1101G>A	p.P367=	Synonymous	11/24	-	8
3-184073552-G-A	c.1100C>T	p.P367L	Missense	11/24	-	1
3-184073556-A-G	c.1096T>C	p.F366L	Missense	11/24	-	1
3-184073562-G-A	c.1090C>T	p.L364=	Synonymous	11/24	-	2
3-184073564-C-T	c.1088G>A	p.R363H	Missense	11/24	-	4
3-184073565-G-A	c.1087C>T	p.R363C	Missense	11/24	-	2
3-184074768-G-A	c.1085+13C>T	-	IntronicSNV	-	10/23	1
3-184074781-T-C	c.1085A>G	p.K362R	Missense	10/24	-	1
3-184074782-T-A	c.1084A>T	p.K362*	Nonsense	10/24	-	1
3-184074784-C-T	c.1082G>A	p.R361K	Missense	10/24	-	1
3-184074786-C-A	c.1080G>T	p.M360I	Missense	10/24	-	1
3-184074786-C-G	c.1080G>C	p.M360I	Missense	10/24	-	1
3-184074786-C-T	c.1080G>A	p.M360I	Missense	10/24	-	1
3-184074787-A-G	c.1079T>C	p.M360T	Missense	10/24	-	1
3-184074787-ATGAGGAAGCGAT-A	c.1067_1078del	p.N356_L359del	InFrameDeletion	10/24	-	1
3-184074794-A-G	c.1072T>C	p.F358L	Missense	10/24	-	1
3-184074796-C-T	c.1070G>A	p.R357H	Missense	10/24	-	1
3-184074797-G-A	c.1069C>T	p.R357C	Missense	10/24	-	1
3-184074804-G-T	c.1062C>A	p.T354=	Synonymous	10/24	-	1
3-184074812-G-C	c.1054C>G	p.Q352E	Missense	10/24	-	1
3-184074816-C-G	c.1050G>C	p.R350=	Synonymous	10/24	-	1
3-184074820-A-G	c.1046T>C	p.M349T	Missense	10/24	-	1
3-184074822-C-A	c.1044G>T	p.V348=	Synonymous	10/24	-	1
3-184074822-C-G	c.1044G>C	p.V348=	Synonymous	10/24	-	1
3-184074822-C-T	c.1044G>A	p.V348=	Synonymous	10/24	-	1
3-184074822-TCACC-T	c.1041_1044del	p.V348Cfs*12	Frameshift	10/24	-	1
3-184074824-C-T	c.1042G>A	p.V348M	Missense	10/24	-	1
3-184074827-G-A	c.1039C>T	p.Q347*	Nonsense	10/24	-	1
3-184074827-G-C	c.1039C>G	p.Q347E	Missense	10/24	-	1
3-184074831-A-G	c.1035T>C	p.I345=	Synonymous	10/24	-	2
3-184074831-A-T	c.1035T>A	p.I345=	Synonymous	10/24	-	2
3-184074833-T-C	c.1033A>G	p.I345V	Missense	10/24	-	2
3-184074832-ATC-A	c.1032_1033del	p.K344Nfs*58	Frameshift	10/24	-	1
3-184074838-C-T	c.1028G>A	p.R343Q	Missense	10/24	-	1
3-184074839-G-A	c.1027C>T	p.R343W	Missense	10/24	-	2
3-184074847-T-C	c.1019A>G	p.Y340C	Missense	10/24	-	3
3-184074851-C-G	c.1015G>C	p.V339L	Missense	10/24	-	1
3-184074851-C-T	c.1015G>A	p.V339I	Missense	10/24	-	1
3-184074862-C-A	c.1004G>T	p.G335V	Missense	10/24	-	1
3-184074866-C-T	c.1000G>A	p.G334S	Missense	10/24	-	1
3-184074867-G-A	c.999C>T	p.F333=	Synonymous	10/24	-	1
3-184074874-C-G	c.992G>C	p.S331T	Missense	10/24	-	4
3-184074877-G-A	c.989C>T	p.A330V	Missense	10/24	-	1
3-184074881-T-C	c.985A>G	p.I329V	Missense	10/24	-	1
3-184074979-G-A	c.974C>T	p.A325V	Missense	9/24	-	1
3-184074987-T-A	c.966A>T	p.P322=	Synonymous	9/24	-	1
3-184074987-T-C	c.966A>G	p.P322=	Synonymous	9/24	-	1
3-184074987-T-G	c.966A>C	p.P322=	Synonymous	9/24	-	1
3-184074989-G-A	c.964C>T	p.P322S	Missense	9/24	-	1
3-184074993-C-A	c.960G>T	p.E320D	Missense	9/24	-	1
3-184074995-C-A	c.958G>T	p.E320*	Nonsense	9/24	-	1
3-184074995-CCTG-C	c.955_957del	p.Q319del	InFrameDeletion	9/24	-	1
3-184075009-G-A	c.944C>T	p.P315L	Missense	9/24	-	1
3-184075011-G-A	c.942C>T	p.F314=	Synonymous	9/24	-	2
3-184075016-C-T	c.937G>A	p.D313N	Missense	9/24	-	2
3-184075018-A-T	c.935T>A	p.L312H	Missense	9/24	-	1
3-184075020-C-T	c.933G>A	p.R311=	Synonymous	9/24	-	2
3-184075021-CG-TA	c.931_932delinsTA	p.R311*	Nonsense	9/24	-	1
3-184075021-C-T	c.932G>A	p.R311Q	Missense	9/24	-	1
3-184075024-A-G	c.929T>C	p.F310S	Missense	9/24	-	1
3-184075026-TCG-ACA	c.925_927delinsTGT	p.R309C	Missense	9/24	-	1
3-184075028-G-A	c.925C>T	p.R309*	Nonsense	9/24	-	1
3-184075029-G-A	c.924C>T	p.T308=	Synonymous	9/24	-	3
3-184075036-AA-TT	c.916_917inv	p.F306N	Missense	9/24	-	1
3-184075036-A-T	c.917T>A	p.F306Y	Missense	9/24	-	1
3-184075037-A-G	c.916T>C	p.F306L	Missense	9/24	-	1
3-184075040-G-A	c.913C>T	p.L305F	Missense	9/24	-	1
3-184075042-G-A	c.911C>T	p.A304V	Missense	9/24	-	1
3-184075043-C-G	c.910G>C	p.A304P	Missense	9/24	-	2
3-184075045-G-A	c.908C>T	p.T303I	Missense	9/24	-	1
3-184075047-A-G	c.906T>C	p.I302=	Synonymous	9/24	-	17
3-184075047-A-T	c.906T>A	p.I302=	Synonymous	9/24	-	16
3-184075047-AAT-A	c.904_905del	p.I302Yfs*15	Frameshift	9/24	-	1
3-184075050-AG-CT	c.902_903inv	p.T301K	Missense	9/24	-	1
3-184075051-G-A	c.902C>T	p.T301I	Missense	9/24	-	1
3-184075145-C-A	c.898+5G>T	-	IntronicSNV	-	8/23	1
3-184075149-C-T	c.898+1G>A	-	IntronicSNV	-	8/23	1
3-184075150-C-G	c.898G>C	p.E300Q	Missense	8/24	-	2
3-184075157-C-A	c.891G>T	p.R297=	Synonymous	8/24	-	1
3-184075158-C-T	c.890G>A	p.R297Q	Missense	8/24	-	1
3-184075161-T-C	c.887A>G	p.N296S	Missense	8/24	-	1
3-184075170-G-A	c.878C>T	p.A293V	Missense	8/24	-	1
3-184075171-C-T	c.877G>A	p.A293T	Missense	8/24	-	2
3-184075175-GAC-CAT	c.871_873delinsATG	p.V291M	Missense	8/24	-	2
3-184075179-C-T	c.869G>A	p.R290Q	Missense	8/24	-	1
3-184075178-C-A	c.870G>T	p.R290=	Synonymous	8/24	-	1
3-184075178-C-G	c.870G>C	p.R290=	Synonymous	8/24	-	1
3-184075178-C-T	c.870G>A	p.R290=	Synonymous	8/24	-	1
3-184075180-G-A	c.868C>T	p.R290W	Missense	8/24	-	1
3-184075180-G-T	c.868C>A	p.R290=	Synonymous	8/24	-	1
3-184075191-G-A	c.857C>T	p.A286V	Missense	8/24	-	1
3-184075192-C-A	c.856G>T	p.A286S	Missense	8/24	-	1
3-184075192-C-T	c.856G>A	p.A286T	Missense	8/24	-	1
3-184075196-G-A	c.852C>T	p.F284=	Synonymous	8/24	-	1
3-184075196-G-C	c.852C>G	p.F284L	Missense	8/24	-	1
3-184075196-G-T	c.852C>A	p.F284L	Missense	8/24	-	1
3-184075198-A-C	c.850T>G	p.F284V	Missense	8/24	-	1
3-184075198-A-G	c.850T>C	p.F284L	Missense	8/24	-	1
3-184075200-G-C	c.848C>G	p.T283S	Missense	8/24	-	1
3-184075200-G-T	c.848C>A	p.T283N	Missense	8/24	-	1
3-184075201-T-A	c.847A>T	p.T283S	Missense	8/24	-	2
3-184075206-G-A	c.842C>T	p.A281V	Missense	8/24	-	1
3-184075211-G-C	c.837C>G	p.F279L	Missense	8/24	-	1
3-184075211-G-T	c.837C>A	p.F279L	Missense	8/24	-	1
3-184075213-A-G	c.835T>C	p.F279L	Missense	8/24	-	4
3-184075218-C-T	c.830G>A	p.R277Q	Missense	8/24	-	3
3-184075219-G-GC	c.828dup	p.R277Afs*23	Frameshift	8/24	-	3
3-184075221-CAGT-C	c.824_826del	p.Y275del	InFrameDeletion	8/24	-	1
3-184075226-G-C	c.822C>G	p.N274K	Missense	8/24	-	3
3-184075226-G-T	c.822C>A	p.N274K	Missense	8/24	-	3
3-184075229-C-T	c.819G>A	p.R273=	Synonymous	8/24	-	2
3-184075230-C-T	c.818G>A	p.R273Q	Missense	8/24	-	3
3-184075229-C-A	c.819G>T	p.R273=	Synonymous	8/24	-	1
3-184075229-C-G	c.819G>C	p.R273=	Synonymous	8/24	-	1
3-184075231-G-A	c.817C>T	p.R273W	Missense	8/24	-	2
3-184075231-G-T	c.817C>A	p.R273=	Synonymous	8/24	-	1
3-184075232-CAC-GAT	c.814_816delinsATC	p.V272I	Missense	8/24	-	1
3-184075234-C-A	c.814G>T	p.V272L	Missense	8/24	-	1
3-184075234-C-G	c.814G>C	p.V272L	Missense	8/24	-	2
3-184075241-G-C	c.807C>G	p.F269L	Missense	8/24	-	2
3-184075241-G-T	c.807C>A	p.F269L	Missense	8/24	-	2
3-184075243-A-G	c.805T>C	p.F269L	Missense	8/24	-	2
3-184075252-T-G	c.796A>C	p.T266P	Missense	8/24	-	1
3-184075259-G-C	c.789C>G	p.I263M	Missense	8/24	-	1
3-184075263-GCT-G	c.784_785del	p.S262Hfs*37	Frameshift	8/24	-	1
3-184075264-T-TA	c.783_784insT	p.S262*	Nonsense	8/24	-	1
3-184075264-T-TAAA	c.783_784insTTT	p.F261dup	InFrameInsertion	8/24	-	1
3-184075271-G-A	c.777C>T	p.V259=	Synonymous	8/24	-	2
3-184075271-G-C	c.777C>G	p.V259=	Synonymous	8/24	-	1
3-184075271-G-T	c.777C>A	p.V259=	Synonymous	8/24	-	1
3-184075273-C-T	c.775G>A	p.V259I	Missense	8/24	-	4
3-184075410-C-T	c.770G>A	p.G257E	Missense	7/24	-	2
3-184075416-G-A	c.764C>T	p.P255L	Missense	7/24	-	1
3-184075420-C-A	c.760G>T	p.A254S	Missense	7/24	-	1
3-184075422-G-A	c.758C>T	p.A253V	Missense	7/24	-	3
3-184075423-C-T	c.757G>A	p.A253T	Missense	7/24	-	3
3-184075425-A-G	c.755T>C	p.F252S	Missense	7/24	-	1
3-184075427-G-T	c.753C>A	p.C251*	Nonsense	7/24	-	1
3-184075441-C-G	c.739G>C	p.G247R	Missense	7/24	-	2
3-184075437-AC-A	c.742del	p.V248Wfs*94	Frameshift	7/24	-	1
3-184075442-C-A	c.738G>T	p.V246=	Synonymous	7/24	-	2
3-184075442-C-G	c.738G>C	p.V246=	Synonymous	7/24	-	3
3-184075442-C-T	c.738G>A	p.V246=	Synonymous	7/24	-	3
3-184075444-C-T	c.736G>A	p.V246M	Missense	7/24	-	1
3-184075445-G-A	c.735C>T	p.A245=	Synonymous	7/24	-	1
3-184075446-G-A	c.734C>T	p.A245V	Missense	7/24	-	1
3-184075453-C-G	c.727G>C	p.A243P	Missense	7/24	-	1
3-184075454-G-A	c.726C>T	p.A242=	Synonymous	7/24	-	1
3-184075458-G-A	c.722C>T	p.A241V	Missense	7/24	-	2
3-184075461-A-G	c.719T>C	p.L240P	Missense	7/24	-	6
3-184075462-G-C	c.718C>G	p.L240V	Missense	7/24	-	1
3-184075468-C-T	c.712G>A	p.E238K	Missense	7/24	-	4
3-184075475-CCG-ACA	c.703_705delinsTGT	p.R235C	Missense	7/24	-	1
3-184075476-C-T	c.704G>A	p.R235Q	Missense	7/24	-	19
3-184075477-G-A	c.703C>T	p.R235W	Missense	7/24	-	7
3-184075479-G-A	c.701C>T	p.S234F	Missense	7/24	-	1
3-184075479-G-C	c.701C>G	p.S234C	Missense	7/24	-	1
3-184075482-T-G	c.698A>C	p.E233A	Missense	7/24	-	1
3-184075486-T-C	c.694A>G	p.N232D	Missense	7/24	-	1
3-184075508-G-A	c.694-22C>T	-	IntronicSNV	-	6/23	1
3-184075571-T-C	c.689A>G	p.Y230C	Missense	6/24	-	1
3-184075573-G-C	c.687C>G	p.I229M	Missense	6/24	-	1
3-184075585-G-A	c.675C>T	p.L225=	Synonymous	6/24	-	3
3-184075587-GGGAGA-G	c.668_672del	p.L223Pfs*7	Frameshift	6/24	-	1
3-184075594-G-T	c.666C>A	p.F222L	Missense	6/24	-	1
3-184075597-C-CT	c.662dup	p.F222Vfs*10	Frameshift	6/24	-	1
3-184075602-T-C	c.658A>G	p.S220G	Missense	6/24	-	1
3-184075603-G-A	c.657C>T	p.L219=	Synonymous	6/24	-	1
3-184075603-G-C	c.657C>G	p.L219=	Synonymous	6/24	-	1
3-184075603-G-T	c.657C>A	p.L219=	Synonymous	6/24	-	1
3-184075618-C-A	c.642G>T	p.M214I	Missense	6/24	-	1
3-184075618-C-G	c.642G>C	p.M214I	Missense	6/24	-	1
3-184075618-C-T	c.642G>A	p.M214I	Missense	6/24	-	1
3-184075620-T-A	c.640A>T	p.M214L	Missense	6/24	-	1
3-184075620-T-C	c.640A>G	p.M214V	Missense	6/24	-	1
3-184075622-C-T	c.638G>A	p.S213N	Missense	6/24	-	1
3-184075622-CT-AA	c.637_638delinsTT	p.S213F	Missense	6/24	-	2
3-184075625-G-A	c.635C>T	p.A212V	Missense	6/24	-	1
3-184075626-C-A	c.634G>T	p.A212S	Missense	6/24	-	1
3-184075626-C-T	c.634G>A	p.A212T	Missense	6/24	-	1
3-184075627-G-A	c.633C>T	p.I211=	Synonymous	6/24	-	3
3-184075627-G-C	c.633C>G	p.I211M	Missense	6/24	-	2
3-184075627-G-T	c.633C>A	p.I211=	Synonymous	6/24	-	2
3-184075630-A-G	c.630T>C	p.H210=	Synonymous	6/24	-	1
3-184075630-TA-T	c.630del	p.H210Qfs*132	Frameshift	6/24	-	1
3-184075635-C-T	c.625G>A	p.V209M	Missense	6/24	-	1
3-184075638-A-C	c.622T>G	p.F208V	Missense	6/24	-	1
3-184075640-G-A	c.620C>T	p.P207L	Missense	6/24	-	1
3-184075640-G-C	c.620C>G	p.P207R	Missense	6/24	-	1
3-184075640-G-T	c.620C>A	p.P207H	Missense	6/24	-	1
3-184075642-GC-CT	c.617_618delinsAG	p.G206E	Missense	6/24	-	1
3-184075643-C-T	c.617G>A	p.G206D	Missense	6/24	-	1
3-184075698-T-G	c.615+52A>C	-	IntronicSNV	-	5/23	1
3-184075703-T-C	c.615+47A>G	-	IntronicSNV	-	5/23	1
3-184075738-G-A	c.615+12C>T	-	IntronicSNV	-	5/23	1
3-184075752-C-G	c.613G>C	p.E205Q	Missense	5/24	-	1
3-184075753-TT-CA	c.611_612delinsTG	p.K204M	Missense	5/24	-	1
3-184075754-T-C	c.611A>G	p.K204R	Missense	5/24	-	1
3-184075757-C-G	c.608G>C	p.G203A	Missense	5/24	-	1
3-184075758-C-A	c.607G>T	p.G203C	Missense	5/24	-	1
3-184075759-AA-TT	c.605_606inv	p.L202Q	Missense	5/24	-	1
3-184075761-G-C	c.604C>G	p.L202V	Missense	5/24	-	1
3-184075763-G-A	c.602C>T	p.P201L	Missense	5/24	-	3
3-184075764-G-A	c.601C>T	p.P201S	Missense	5/24	-	3
3-184075769-C-G	c.596G>C	p.G199A	Missense	5/24	-	2
3-184075767-T-TC	c.597dup	p.M200Dfs*32	Frameshift	5/24	-	2
3-184075770-C-T	c.595G>A	p.G199R	Missense	5/24	-	1
3-184075773-T-C	c.592A>G	p.S198G	Missense	5/24	-	1
3-184075775-C-T	c.590G>A	p.G197D	Missense	5/24	-	1
3-184075778-A-G	c.587T>C	p.L196P	Missense	5/24	-	1
3-184075782-C-T	c.583G>A	p.A195T	Missense	5/24	-	3
3-184075783-G-A	c.582C>T	p.C194=	Synonymous	5/24	-	2
3-184075783-G-C	c.582C>G	p.C194W	Missense	5/24	-	1
3-184075784-C-A	c.581G>T	p.C194F	Missense	5/24	-	1
3-184075793-C-T	c.572G>A	p.G191E	Missense	5/24	-	2
3-184075794-C-A	c.571G>T	p.G191W	Missense	5/24	-	1
3-184075796-A-G	c.569T>C	p.I190T	Missense	5/24	-	1
3-184075797-T-G	c.568A>C	p.I190L	Missense	5/24	-	2
3-184075800-C-A	c.565G>T	p.V189F	Missense	5/24	-	1
3-184075800-C-G	c.565G>C	p.V189L	Missense	5/24	-	1
3-184075800-C-T	c.565G>A	p.V189I	Missense	5/24	-	1
3-184075806-C-G	c.559G>C	p.A187P	Missense	5/24	-	2
3-184075809-T-C	c.556A>G	p.I186V	Missense	5/24	-	1
3-184075810-A-G	c.555T>C	p.F185=	Synonymous	5/24	-	1
3-184075813-GG-CA	c.551_552delinsTG	p.T184M	Missense	5/24	-	1
3-184075816-C-A	c.549G>T	p.K183N	Missense	5/24	-	2
3-184075816-C-G	c.549G>C	p.K183N	Missense	5/24	-	2
3-184075817-T-C	c.548A>G	p.K183R	Missense	5/24	-	1
3-184075819-G-C	c.546C>G	p.L182=	Synonymous	5/24	-	1
3-184075822-T-G	c.543A>C	p.T181=	Synonymous	5/24	-	1
3-184075827-G-A	c.538C>T	p.L180F	Missense	5/24	-	1
3-184075829-T-C	c.536A>G	p.Y179C	Missense	5/24	-	3
3-184075831-T-C	c.534A>G	p.E178=	Synonymous	5/24	-	1
3-184075835-T-A	c.530A>T	p.K177I	Missense	5/24	-	1
3-184075844-AC-GA	c.520_521delinsTC	p.V174S	Missense	5/24	-	1
3-184075847-C-T	c.518G>A	p.G173E	Missense	5/24	-	1
3-184075850-C-T	c.515G>A	p.R172Q	Missense	5/24	-	15
3-184075851-G-A	c.514C>T	p.R172W	Missense	5/24	-	1
3-184075851-G-C	c.514C>G	p.R172G	Missense	5/24	-	2
3-184075851-G-T	c.514C>A	p.R172=	Synonymous	5/24	-	1
3-184075852-C-T	c.513G>A	p.L171=	Synonymous	5/24	-	1
3-184075854-A-G	c.511T>C	p.L171=	Synonymous	5/24	-	1
3-184075855-G-A	c.510C>T	p.I170=	Synonymous	5/24	-	1
3-184075855-G-T	c.510C>A	p.I170=	Synonymous	5/24	-	1
3-184075859-G-C	c.506C>G	p.T169S	Missense	5/24	-	1
3-184075867-C-A	c.498G>T	p.E166D	Missense	5/24	-	4
3-184075867-C-G	c.498G>C	p.E166D	Missense	5/24	-	4
3-184075867-CTC-ACA	c.496_498delinsTGT	p.E166C	Missense	5/24	-	1
3-184075868-T-A	c.497A>T	p.E166V	Missense	5/24	-	1
3-184075868-T-G	c.497A>C	p.E166A	Missense	5/24	-	4
3-184075869-C-G	c.496G>C	p.E166Q	Missense	5/24	-	1
3-184075869-C-T	c.496G>A	p.E166K	Missense	5/24	-	1
3-184075871-G-C	c.494C>G	p.P165R	Missense	5/24	-	1
3-184075873-G-A	c.492C>T	p.I164=	Synonymous	5/24	-	3
3-184075874-A-T	c.491T>A	p.I164N	Missense	5/24	-	1
3-184075880-G-C	c.485C>G	p.S162C	Missense	5/24	-	1
3-184075881-A-G	c.484T>C	p.S162P	Missense	5/24	-	1
3-184075882-G-A	c.483C>T	p.G161=	Synonymous	5/24	-	4
3-184075958-C-T	c.481+12G>A	-	IntronicSNV	-	4/23	4
3-184075970-C-A	c.481G>T	p.G161C	Missense	4/24	-	1
3-184075970-C-T	c.481G>A	p.G161S	Missense	4/24	-	6
3-184075971-G-A	c.480C>T	p.V160=	Synonymous	4/24	-	1
3-184075974-A-C	c.477T>G	p.A159=	Synonymous	4/24	-	1
3-184075974-A-G	c.477T>C	p.A159=	Synonymous	4/24	-	1
3-184075974-A-T	c.477T>A	p.A159=	Synonymous	4/24	-	1
3-184075975-G-T	c.476C>A	p.A159D	Missense	4/24	-	2
3-184075977-C-A	c.474G>T	p.Q158H	Missense	4/24	-	1
3-184075978-T-G	c.473A>C	p.Q158P	Missense	4/24	-	1
3-184075981-G-A	c.470C>T	p.P157L	Missense	4/24	-	2
3-184075982-G-A	c.469C>T	p.P157S	Missense	4/24	-	1
3-184075984-G-A	c.467C>T	p.A156V	Missense	4/24	-	1
3-184075988-G-C	c.463C>G	p.L155V	Missense	4/24	-	1
3-184075992-C-A	c.459G>T	p.Q153H	Missense	4/24	-	1
3-184075995-TGT-ACA	c.454_456inv	p.T152C	Missense	4/24	-	2
3-184075996-G-A	c.455C>T	p.T152I	Missense	4/24	-	3
3-184075998-G-C	c.453C>G	p.F151L	Missense	4/24	-	1
3-184075998-G-T	c.453C>A	p.F151L	Missense	4/24	-	1
3-184076000-A-C	c.451T>G	p.F151V	Missense	4/24	-	1
3-184076000-A-G	c.451T>C	p.F151L	Missense	4/24	-	1
3-184076005-G-T	c.446C>A	p.A149D	Missense	4/24	-	1
3-184076006-C-T	c.445G>A	p.A149T	Missense	4/24	-	2
3-184076008-G-A	c.443C>T	p.S148L	Missense	4/24	-	2
3-184076014-G-A	c.437C>T	p.T146I	Missense	4/24	-	2
3-184076014-G-C	c.437C>G	p.T146S	Missense	4/24	-	1
3-184076014-GT-AA	c.436_437delinsTT	p.T146F	Missense	4/24	-	2
3-184076015-T-A	c.436A>T	p.T146S	Missense	4/24	-	2
3-184076014-GTGA-G	c.434_436del	p.I145del	InFrameDeletion	4/24	-	1
3-184076015-TGATGAG-T	c.430_435del	p.L144_I145del	InFrameDeletion	4/24	-	5
3-184076027-AC-A	c.424del	p.V142Lfs*26	Frameshift	4/24	-	1
3-184076030-G-A	c.421C>T	p.P141S	Missense	4/24	-	1
3-184076039-C-T	c.412G>A	p.V138I	Missense	4/24	-	1
3-184076056-A-G	c.395T>C	p.L132P	Missense	4/24	-	1
3-184076063-T-C	c.388A>G	p.I130V	Missense	4/24	-	1
3-184076070-G-T	c.381C>A	p.N127K	Missense	4/24	-	1
3-184076073-C-T	c.378G>A	p.L126=	Synonymous	4/24	-	4
3-184076075-A-G	c.376T>C	p.L126=	Synonymous	4/24	-	2
3-184076080-C-A	c.371G>T	p.R124L	Missense	4/24	-	3
3-184076080-CG-TT	c.370_371delinsAA	p.R124K	Missense	4/24	-	1
3-184076080-C-T	c.371G>A	p.R124Q	Missense	4/24	-	1
3-184076081-G-A	c.370C>T	p.R124W	Missense	4/24	-	1
3-184076081-G-C	c.370C>G	p.R124G	Missense	4/24	-	1
3-184076083-G-A	c.368C>T	p.S123F	Missense	4/24	-	4
3-184076083-G-C	c.368C>G	p.S123C	Missense	4/24	-	1
3-184076084-A-T	c.367T>A	p.S123T	Missense	4/24	-	1
3-184076093-G-GTGTAGGAAGTGCCATTGCAGGAAGCCA	c.357_358insTGGCTTCCTGCAATGGCACTTCCTACA	p.Q119_Q120insWLPAMALPT	InFrameInsertion	4/24	-	1
3-184076095-T-G	c.356A>C	p.Q119P	Missense	4/24	-	1
3-184076098-G-C	c.353C>G	p.A118G	Missense	4/24	-	1
3-184076481-G-A	c.341C>T	p.A114V	Missense	3/24	-	1
3-184076491-C-T	c.331G>A	p.A111T	Missense	3/24	-	1
3-184076495-GTC-CTT	c.325_327delinsAAG	p.D109K	Missense	3/24	-	1
3-184076496-T-C	c.326A>G	p.D109G	Missense	3/24	-	1
3-184076500-T-C	c.322A>G	p.M108V	Missense	3/24	-	1
3-184076505-CCAGCTGACCAAT-C	c.306_317del	p.L103_W106del	InFrameDeletion	3/24	-	1
3-184076509-CTGACCAATGCCATGA-C	c.299_313del	p.L100_S105delinsR	MultiAAMissense	3/24	-	1
3-184076509-CTGACCA-C	c.308_313del	p.L103_S105delinsC	MultiAAMissense	3/24	-	1
3-184076510-G-A	c.312C>T	p.V104=	Synonymous	3/24	-	1
3-184076510-G-C	c.312C>G	p.V104=	Synonymous	3/24	-	1
3-184076510-G-T	c.312C>A	p.V104=	Synonymous	3/24	-	1
3-184076511-A-C	c.311T>G	p.V104G	Missense	3/24	-	1
3-184076512-C-G	c.310G>C	p.V104L	Missense	3/24	-	1
3-184076513-CCAA-C	c.307_309del	p.L103del	InFrameDeletion	3/24	-	1
3-184076514-AA-TG	c.307_308delinsCA	p.L103Q	Missense	3/24	-	1
3-184076514-A-T	c.308T>A	p.L103*	Nonsense	3/24	-	1
3-184076511-ACCAATG-A	c.305_310del	p.A102_L103del	InFrameDeletion	3/24	-	1
3-184076520-A-G	c.302T>C	p.M101T	Missense	3/24	-	2
3-184076522-G-A	c.300C>T	p.L100=	Synonymous	3/24	-	1
3-184076525-A-C	c.297T>G	p.L99=	Synonymous	3/24	-	2
3-184076530-C-G	c.292G>C	p.G98R	Missense	3/24	-	1
3-184076530-C-T	c.292G>A	p.G98R	Missense	3/24	-	1
3-184076554-C-G	c.268G>C	p.D90H	Missense	3/24	-	6
3-184076559-C-T	c.263G>A	p.G88D	Missense	3/24	-	1
3-184076563-C-A	c.259G>T	p.V87F	Missense	3/24	-	2
3-184076563-C-T	c.259G>A	p.V87I	Missense	3/24	-	1
3-184076565-C-T	c.257G>A	p.R86K	Missense	3/24	-	3
3-184076568-G-A	c.254C>T	p.S85F	Missense	3/24	-	1
3-184076577-AA-GC	c.244_245delinsGC	p.F82A	Missense	3/24	-	1
3-184076576-G-C	c.246C>G	p.F82L	Missense	3/24	-	2
3-184076576-G-T	c.246C>A	p.F82L	Missense	3/24	-	1
3-184076578-A-G	c.244T>C	p.F82L	Missense	3/24	-	1
3-184076586-C-T	c.236G>A	p.C79Y	Missense	3/24	-	1
3-184076589-C-T	c.233G>A	p.R78H	Missense	3/24	-	1
3-184076590-G-A	c.232C>T	p.R78C	Missense	3/24	-	1
3-184076596-A-G	c.226T>C	p.S76P	Missense	3/24	-	1
3-184076763-C-T	c.220G>A	p.V74I	Missense	2/24	-	1
3-184076765-C-A	c.218G>T	p.R73L	Missense	2/24	-	2
3-184076765-C-T	c.218G>A	p.R73H	Missense	2/24	-	9
3-184076766-G-A	c.217C>T	p.R73C	Missense	2/24	-	1
3-184076771-C-G	c.212G>C	p.R71P	Missense	2/24	-	1
3-184076771-C-T	c.212G>A	p.R71Q	Missense	2/24	-	2
3-184076777-C-A	c.206G>T	p.C69F	Missense	2/24	-	1
3-184076777-C-G	c.206G>C	p.C69S	Missense	2/24	-	1
3-184076778-A-T	c.205T>A	p.C69S	Missense	2/24	-	1
3-184076779-ACG-CCA	c.202_204delinsTGG	p.R68W	Missense	2/24	-	1
3-184076779-ACG-TCA	c.202_204delinsTGA	p.R68*	Nonsense	2/24	-	1
3-184076780-C-T	c.203G>A	p.R68H	Missense	2/24	-	6
3-184076781-G-A	c.202C>T	p.R68C	Missense	2/24	-	1
3-184076782-G-T	c.201C>A	p.S67R	Missense	2/24	-	2
3-184076784-T-C	c.199A>G	p.S67G	Missense	2/24	-	1
3-184076786-C-T	c.197G>A	p.R66Q	Missense	2/24	-	1
3-184076787-G-A	c.196C>T	p.R66W	Missense	2/24	-	2
3-184076795-T-C	c.188A>G	p.E63G	Missense	2/24	-	1
3-184076796-C-T	c.187G>A	p.E63K	Missense	2/24	-	1
3-184076805-C-T	c.178G>A	p.E60K	Missense	2/24	-	1
3-184076807-G-A	c.176C>T	p.P59L	Missense	2/24	-	1
3-184076810-G-A	c.173C>T	p.A58V	Missense	2/24	-	1
3-184076811-C-A	c.172G>T	p.A58S	Missense	2/24	-	1
3-184076813-G-A	c.170C>T	p.A57V	Missense	2/24	-	1
3-184076819-G-C	c.164C>G	p.S55C	Missense	2/24	-	1
3-184076822-G-A	c.161C>T	p.S54F	Missense	2/24	-	2
3-184076825-G-A	c.158C>T	p.P53L	Missense	2/24	-	1
3-184076826-G-A	c.157C>T	p.P53S	Missense	2/24	-	2
3-184076827-G-A	c.156C>T	p.P52=	Synonymous	2/24	-	1
3-184076829-G-A	c.154C>T	p.P52S	Missense	2/24	-	2
3-184076836-C-A	c.147G>T	p.W49C	Missense	2/24	-	1
3-184076836-C-G	c.147G>C	p.W49C	Missense	2/24	-	1
3-184076836-C-T	c.147G>A	p.W49*	Nonsense	2/24	-	1
3-184076837-C-T	c.146G>A	p.W49*	Nonsense	2/24	-	1
3-184076838-A-C	c.145T>G	p.W49G	Missense	2/24	-	1
3-184076838-CA-C	c.145del	p.W49Gfs*35	Frameshift	2/24	-	1
3-184076840-G-A	c.143C>T	p.P48L	Missense	2/24	-	1
3-184076840-G-C	c.143C>G	p.P48R	Missense	2/24	-	2
3-184076842-T-A	c.141A>T	p.E47D	Missense	2/24	-	2
3-184076843-T-A	c.140A>T	p.E47V	Missense	2/24	-	1
3-184076852-C-T	c.131G>A	p.G44E	Missense	2/24	-	1
3-184076853-C-G	c.130G>C	p.G44R	Missense	2/24	-	1
3-184076853-C-T	c.130G>A	p.G44R	Missense	2/24	-	1
3-184076858-C-A	c.125G>T	p.R42L	Missense	2/24	-	3
3-184076859-G-A	c.124C>T	p.R42C	Missense	2/24	-	5
3-184076859-G-T	c.124C>A	p.R42S	Missense	2/24	-	1
3-184076864-C-T	c.119G>A	p.R40Q	Missense	2/24	-	2
3-184076866-A-C	c.117T>G	p.A39=	Synonymous	2/24	-	1
3-184076866-A-G	c.117T>C	p.A39=	Synonymous	2/24	-	1
3-184076866-A-T	c.117T>A	p.A39=	Synonymous	2/24	-	1
3-184076867-G-A	c.116C>T	p.A39V	Missense	2/24	-	1
3-184076871-C-T	c.112G>A	p.A38T	Missense	2/24	-	1
3-184076875-C-G	c.108G>C	p.E36D	Missense	2/24	-	2
3-184076876-T-C	c.107A>G	p.E36G	Missense	2/24	-	1
3-184076879-T-C	c.104A>G	p.K35R	Missense	2/24	-	1
3-184076888-G-T	c.95C>A	p.A32D	Missense	2/24	-	2
3-184076893-A-C	c.90T>G	p.L30=	Synonymous	2/24	-	2
3-184076893-A-G	c.90T>C	p.L30=	Synonymous	2/24	-	3
3-184076893-A-T	c.90T>A	p.L30=	Synonymous	2/24	-	2
3-184076895-G-C	c.88C>G	p.L30V	Missense	2/24	-	1
3-184076898-C-A	c.85G>T	p.D29Y	Missense	2/24	-	5
3-184076901-G-A	c.82C>T	p.Q28*	Nonsense	2/24	-	1
3-184076901-G-C	c.82C>G	p.Q28E	Missense	2/24	-	2
3-184076902-A-G	c.81T>C	p.T27=	Synonymous	2/24	-	2
3-184076907-A-G	c.76T>C	p.Y26H	Missense	2/24	-	1
3-184076907-A-T	c.76T>A	p.Y26N	Missense	2/24	-	9
3-184076909-C-T	c.74G>A	p.R25Q	Missense	2/24	-	4
3-184076912-C-T	c.71G>A	p.G24D	Missense	2/24	-	17
3-184076915-T-C	c.68A>G	p.Y23C	Missense	2/24	-	1
3-184076917-AC-A	c.66del	p.M22Ifs*62	Frameshift	2/24	-	1
3-184076918-A-T	c.65T>A	p.M22K	Missense	2/24	-	10
3-184076918-A-AT	c.64dup	p.M22Nfs*26	SpliceAcceptorInsertion	-	-	1
3-184077274-G-C	c.64-355C>G	-	IntronicSNV	-	1/23	1
3-184077274-G-T	c.64-355C>A	-	IntronicSNV	-	1/23	1
3-184079205-C-CG	c.62_63insC	p.M22Dfs*26	SpliceDonorInsertion	1/24	-	1
3-184079206-A-AT	c.61_62insA	p.L21Hfs*27	SpliceDonorInsertion	1/24	-	1
3-184079206-A-AG	c.61dup	p.L21Pfs*27	SpliceDonorInsertion	1/24	-	2
3-184079207-GGGTCTGCTCGTACT-G	c.47_60del	p.Q16Pfs*27	Frameshift	1/24	-	1
3-184079216-C-T	c.52G>A	p.E18K	Missense	1/24	-	1
3-184079217-G-T	c.51C>A	p.Y17*	Nonsense	1/24	-	1
3-184079218-T-C	c.50A>G	p.Y17C	Missense	1/24	-	1
3-184079219-A-G	c.49T>C	p.Y17H	Missense	1/24	-	2
3-184079226-C-A	c.42G>T	p.A14=	Synonymous	1/24	-	2
3-184079226-C-G	c.42G>C	p.A14=	Synonymous	1/24	-	2
3-184079226-C-T	c.42G>A	p.A14=	Synonymous	1/24	-	1
3-184079227-G-A	c.41C>T	p.A14V	Missense	1/24	-	1
3-184079230-C-T	c.38G>A	p.R13Q	Missense	1/24	-	1
3-184079237-C-G	c.31G>C	p.E11Q	Missense	1/24	-	1
3-184079237-C-T	c.31G>A	p.E11K	Missense	1/24	-	1
3-184079238-C-T	c.30G>A	p.M10I	Missense	1/24	-	1
3-184079239-A-C	c.29T>G	p.M10R	Missense	1/24	-	1
3-184079246-C-T	c.22G>A	p.E8K	Missense	1/24	-	1
3-184079260-G-A	c.8C>T	p.A3V	Missense	1/24	-	2
3-184079261-C-T	c.7G>A	p.A3T	Missense	1/24	-	1
3-184079263-G-A	c.5C>T	p.A2V	Missense	1/24	-	1
3-184079266-A-G	c.2T>C	p.M1?	Missense	1/24	-	1