ASPH

ASPH aspartate beta-hydroxylase

Annotation transcript: NM_004318.4

1245 unique variant annotations were identified in 515 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
8-62413202-A-G	c.*2716T>C	-	3-UTRSNV	25/25	-	1
8-62413204-C-T	c.*2714G>A	-	3-UTRSNV	25/25	-	1
8-62413220-T-C	c.*2698A>G	-	3-UTRSNV	25/25	-	2
8-62414345-A-C	c.*1573T>G	-	3-UTRSNV	25/25	-	1
8-62414393-G-A	c.*1525C>T	-	3-UTRSNV	25/25	-	1
8-62415925-G-C	c.2270C>G	p.A757G	Missense	25/25	-	3
8-62415929-G-A	c.2266C>T	p.P756S	Missense	25/25	-	3
8-62415930-A-G	c.2265T>C	p.L755=	Synonymous	25/25	-	1
8-62415934-C-T	c.2261G>A	p.S754N	Missense	25/25	-	1
8-62415937-C-T	c.2258G>A	p.R753H	Missense	25/25	-	2
8-62415938-G-A	c.2257C>T	p.R753C	Missense	25/25	-	3
8-62415942-C-A	c.2253G>T	p.Q751H	Missense	25/25	-	1
8-62415942-C-G	c.2253G>C	p.Q751H	Missense	25/25	-	1
8-62415944-G-A	c.2251C>T	p.Q751*	Nonsense	25/25	-	2
8-62415944-G-T	c.2251C>A	p.Q751K	Missense	25/25	-	1
8-62415950-G-A	c.2245C>T	p.P749S	Missense	25/25	-	2
8-62415953-T-C	c.2242A>G	p.T748A	Missense	25/25	-	1
8-62415959-C-A	c.2236G>T	p.E746*	Nonsense	25/25	-	1
8-62415961-G-A	c.2234C>T	p.P745L	Missense	25/25	-	5
8-62415962-G-A	c.2233C>T	p.P745S	Missense	25/25	-	1
8-62415971-C-T	c.2224G>A	p.V742M	Missense	25/25	-	1
8-62415974-C-T	c.2221G>A	p.D741N	Missense	25/25	-	1
8-62415977-C-T	c.2218G>A	p.V740M	Missense	25/25	-	4
8-62415980-T-A	c.2215A>T	p.I739F	Missense	25/25	-	1
8-62415984-T-C	c.2211A>G	p.I737M	Missense	25/25	-	1
8-62415987-C-A	c.2208G>T	p.L736=	Synonymous	25/25	-	1
8-62415987-C-G	c.2208G>C	p.L736=	Synonymous	25/25	-	1
8-62415987-C-T	c.2208G>A	p.L736=	Synonymous	25/25	-	2
8-62415989-G-A	c.2206C>T	p.L736=	Synonymous	25/25	-	1
8-62415989-G-T	c.2206C>A	p.L736M	Missense	25/25	-	2
8-62415991-C-T	c.2204G>A	p.R735Q	Missense	25/25	-	4
8-62415992-G-A	c.2203C>T	p.R735W	Missense	25/25	-	14
8-62415993-G-A	c.2202C>T	p.F734=	Synonymous	25/25	-	1
8-62415997-G-A	c.2198C>T	p.S733F	Missense	25/25	-	3
8-62416002-G-A	c.2193C>T	p.A731=	Synonymous	25/25	-	1
8-62416006-T-A	c.2189A>T	p.D730V	Missense	25/25	-	1
8-62416007-C-T	c.2188G>A	p.D730N	Missense	25/25	-	1
8-62416016-C-T	c.2179G>A	p.V727I	Missense	25/25	-	4
8-62416017-C-A	c.2178G>T	p.E726D	Missense	25/25	-	2
8-62416017-C-G	c.2178G>C	p.E726D	Missense	25/25	-	2
8-62416019-C-T	c.2176G>A	p.E726K	Missense	25/25	-	1
8-62416020-G-A	c.2175C>T	p.H725=	Synonymous	25/25	-	4
8-62416022-G-A	c.2173C>T	p.H725Y	Missense	25/25	-	2
8-62416025-C-G	c.2170G>C	p.E724Q	Missense	25/25	-	1
8-62416026-CAAA-C	c.2167_2169del	p.F723del	InFrameDeletion	25/25	-	1
8-62416029-G-A	c.2166C>T	p.S722=	Synonymous	25/25	-	1
8-62416030-G-A	c.2165C>T	p.S722F	Missense	25/25	-	2
8-62416035-CA-C	c.2160del	p.D720Efs*17	Frameshift	25/25	-	1
8-62416044-G-A	c.2151C>T	p.L717=	Synonymous	25/25	-	1
8-62416044-G-C	c.2151C>G	p.L717=	Synonymous	25/25	-	2
8-62416044-G-T	c.2151C>A	p.L717=	Synonymous	25/25	-	1
8-62416046-G-A	c.2149C>T	p.L717F	Missense	25/25	-	1
8-62416051-T-C	c.2144A>G	p.K715R	Missense	25/25	-	1
8-62416054-C-T	c.2141G>A	p.G714D	Missense	25/25	-	2
8-62416065-G-A	c.2130C>T	p.T710=	Synonymous	25/25	-	1
8-62416065-G-C	c.2130C>G	p.T710=	Synonymous	25/25	-	1
8-62416065-G-T	c.2130C>A	p.T710=	Synonymous	25/25	-	1
8-62416066-GT-CA	c.2128_2129delinsTG	p.T710C	Missense	25/25	-	1
8-62416074-G-A	c.2127-6C>T	-	IntronicSNV	-	24/24	10
8-62416173-G-A	c.2127-105C>T	-	IntronicSNV	-	24/24	5
8-62430040-C-T	c.2126+47G>A	-	IntronicSNV	-	24/24	1
8-62430066-C-T	c.2126+21G>A	-	IntronicSNV	-	24/24	1
8-62430068-G-A	c.2126+19C>T	-	IntronicSNV	-	24/24	1
8-62430086-C-T	c.2126+1G>A	-	IntronicSNV	-	24/24	1
8-62430090-G-T	c.2123C>A	p.T708N	Missense	24/25	-	1
8-62430094-C-T	c.2119G>A	p.E707K	Missense	24/25	-	2
8-62430095-G-A	c.2118C>T	p.N706=	Synonymous	24/25	-	2
8-62430099-G-A	c.2114C>T	p.A705V	Missense	24/25	-	1
8-62430105-C-G	c.2108G>C	p.R703P	Missense	24/25	-	1
8-62430106-G-A	c.2107C>T	p.R703*	Nonsense	24/25	-	1
8-62430118-C-A	c.2095G>T	p.G699C	Missense	24/25	-	1
8-62430121-C-T	c.2092G>A	p.E698K	Missense	24/25	-	1
8-62430122-C-A	c.2091G>T	p.K697N	Missense	24/25	-	1
8-62430122-C-G	c.2091G>C	p.K697N	Missense	24/25	-	1
8-62430122-C-T	c.2091G>A	p.K697=	Synonymous	24/25	-	1
8-62430124-T-A	c.2089A>T	p.K697*	Nonsense	24/25	-	1
8-62430127-G-A	c.2086C>T	p.P696S	Missense	24/25	-	5
8-62430127-G-T	c.2086C>A	p.P696T	Missense	24/25	-	1
8-62430133-C-G	c.2080G>C	p.V694L	Missense	24/25	-	1
8-62430133-C-T	c.2080G>A	p.V694M	Missense	24/25	-	1
8-62430134-C-G	c.2079G>C	p.L693F	Missense	24/25	-	2
8-62430137-GC-CT	c.2075_2076delinsAG	p.G692E	Missense	24/25	-	1
8-62430138-C-A	c.2075G>T	p.G692V	Missense	24/25	-	1
8-62430144-T-A	c.2069A>T	p.H690L	Missense	24/25	-	1
8-62430145-G-A	c.2068C>T	p.H690Y	Missense	24/25	-	1
8-62430147-A-T	c.2066T>A	p.M689K	Missense	24/25	-	1
8-62430150-C-CCT	c.2062_2063insAG	p.R688Qfs*8	Frameshift	24/25	-	1
8-62430150-C-T	c.2063G>A	p.R688Q	Missense	24/25	-	3
8-62430151-G-A	c.2062C>T	p.R688*	Nonsense	24/25	-	1
8-62430154-G-T	c.2059C>A	p.L687I	Missense	24/25	-	1
8-62430155-C-T	c.2058G>A	p.R686=	Synonymous	24/25	-	1
8-62430158-G-T	c.2055C>A	p.C685*	Nonsense	24/25	-	1
8-62430159-C-T	c.2054G>A	p.C685Y	Missense	24/25	-	3
8-62430170-CCC-ATA	c.2041_2043delinsTAT	p.G681Y	Missense	24/25	-	1
8-62430170-CCC-GCT	c.2041_2043delinsAGC	p.G681S	Missense	24/25	-	1
8-62430171-C-T	c.2042G>A	p.G681E	Missense	24/25	-	3
8-62430177-TG-GC	c.2035_2036delinsGC	p.H679A	Missense	24/25	-	1
8-62430180-G-A	c.2033C>T	p.P678L	Missense	24/25	-	1
8-62430181-G-A	c.2032C>T	p.P678S	Missense	24/25	-	1
8-62430184-A-G	c.2029T>C	p.W677R	Missense	24/25	-	1
8-62430184-A-T	c.2029T>A	p.W677R	Missense	24/25	-	1
8-62430187-C-T	c.2026G>A	p.V676M	Missense	24/25	-	2
8-62430188-G-A	c.2025C>T	p.H675=	Synonymous	24/25	-	1
8-62430188-G-C	c.2025C>G	p.H675Q	Missense	24/25	-	9
8-62430188-G-T	c.2025C>A	p.H675Q	Missense	24/25	-	8
8-62430189-T-C	c.2024A>G	p.H675R	Missense	24/25	-	1
8-62430195-C-A	c.2018G>T	p.G673V	Missense	24/25	-	1
8-62430206-G-A	c.2007C>T	p.I669=	Synonymous	24/25	-	1
8-62430206-G-T	c.2007C>A	p.I669=	Synonymous	24/25	-	1
8-62430208-T-C	c.2005A>G	p.I669V	Missense	24/25	-	1
8-62430209-G-A	c.2004C>T	p.S668=	Synonymous	24/25	-	2
8-62430217-T-A	c.1996A>T	p.K666*	Nonsense	24/25	-	1
8-62430219-A-T	c.1994T>A	p.I665N	Missense	24/25	-	1
8-62430595-C-A	c.1988G>T	p.G663V	Missense	23/25	-	1
8-62430600-T-A	c.1983A>T	p.R661S	Missense	23/25	-	1
8-62430600-TCT-ATG	c.1981_1983delinsCAT	p.R661H	Missense	23/25	-	1
8-62430600-T-G	c.1983A>C	p.R661S	Missense	23/25	-	1
8-62430611-T-C	c.1972A>G	p.T658A	Missense	23/25	-	4
8-62430612-T-A	c.1971A>T	p.T657=	Synonymous	23/25	-	1
8-62430612-T-C	c.1971A>G	p.T657=	Synonymous	23/25	-	1
8-62430612-T-G	c.1971A>C	p.T657=	Synonymous	23/25	-	1
8-62430617-C-T	c.1966G>A	p.E656K	Missense	23/25	-	1
8-62430618-G-T	c.1965C>A	p.P655=	Synonymous	23/25	-	1
8-62430621-G-A	c.1962C>T	p.F654=	Synonymous	23/25	-	2
8-62430621-G-C	c.1962C>G	p.F654L	Missense	23/25	-	1
8-62430621-G-T	c.1962C>A	p.F654L	Missense	23/25	-	1
8-62430623-A-G	c.1960T>C	p.F654L	Missense	23/25	-	1
8-62430629-C-T	c.1954G>A	p.E652K	Missense	23/25	-	2
8-62430640-C-T	c.1943G>A	p.C648Y	Missense	23/25	-	1
8-62430659-T-C	c.1924A>G	p.K642E	Missense	23/25	-	1
8-62430667-T-A	c.1916A>T	p.N639I	Missense	23/25	-	1
8-62430668-T-C	c.1915A>G	p.N639D	Missense	23/25	-	1
8-62430670-T-C	c.1913A>G	p.E638G	Missense	23/25	-	1
8-62430671-C-A	c.1912G>T	p.E638*	Nonsense	23/25	-	3
8-62430673-T-A	c.1910A>T	p.N637I	Missense	23/25	-	1
8-62430676-C-T	c.1907G>A	p.R636K	Missense	23/25	-	1
8-62430684-T-C	c.1901-2A>G	-	IntronicSNV	-	22/24	1
8-62438530-A-G	c.1900+6T>C	-	IntronicSNV	-	22/24	13
8-62438531-C-G	c.1900+5G>C	-	IntronicSNV	-	22/24	1
8-62438535-C-A	c.1900+1G>T	-	IntronicSNV	-	22/24	1
8-62438539-G-A	c.1897C>T	p.Q633*	Nonsense	22/25	-	1
8-62438540-C-A	c.1896G>T	p.Q632H	Missense	22/25	-	1
8-62438540-C-G	c.1896G>C	p.Q632H	Missense	22/25	-	1
8-62438542-G-A	c.1894C>T	p.Q632*	Nonsense	22/25	-	1
8-62438544-C-T	c.1892G>A	p.W631*	Nonsense	22/25	-	1
8-62438549-C-T	c.1887G>A	p.T629=	Synonymous	22/25	-	1
8-62438550-G-A	c.1886C>T	p.T629M	Missense	22/25	-	2
8-62438550-G-C	c.1886C>G	p.T629R	Missense	22/25	-	2
8-62438551-T-C	c.1885A>G	p.T629A	Missense	22/25	-	4
8-62438552-G-A	c.1884C>T	p.F628=	Synonymous	22/25	-	1
8-62438559-C-A	c.1877G>T	p.S626I	Missense	22/25	-	1
8-62438566-C-T	c.1870G>A	p.D624N	Missense	22/25	-	2
8-62438567-C-A	c.1869G>T	p.G623=	Synonymous	22/25	-	1
8-62438567-C-G	c.1869G>C	p.G623=	Synonymous	22/25	-	1
8-62438567-C-T	c.1869G>A	p.G623=	Synonymous	22/25	-	1
8-62438570-T-C	c.1866A>G	p.K622=	Synonymous	22/25	-	4
8-62438575-C-T	c.1861G>A	p.E621K	Missense	22/25	-	2
8-62438579-C-A	c.1857G>T	p.L619=	Synonymous	22/25	-	1
8-62438579-C-G	c.1857G>C	p.L619=	Synonymous	22/25	-	1
8-62438579-C-T	c.1857G>A	p.L619=	Synonymous	22/25	-	2
8-62438581-G-A	c.1855C>T	p.L619=	Synonymous	22/25	-	1
8-62438582-G-A	c.1854C>T	p.N618=	Synonymous	22/25	-	2
8-62438587-C-T	c.1849G>A	p.E617K	Missense	22/25	-	3
8-62438589-T-C	c.1847A>G	p.D616G	Missense	22/25	-	1
8-62438590-C-T	c.1846G>A	p.D616N	Missense	22/25	-	2
8-62438591-C-A	c.1845G>T	p.E615D	Missense	22/25	-	1
8-62438591-C-G	c.1845G>C	p.E615D	Missense	22/25	-	1
8-62438593-C-G	c.1843G>C	p.E615Q	Missense	22/25	-	1
8-62438595-G-A	c.1841C>T	p.P614L	Missense	22/25	-	2
8-62438595-G-C	c.1841C>G	p.P614R	Missense	22/25	-	1
8-62438597-CAGGA-C	c.1835_1838del	p.F612Cfs*7	Frameshift	22/25	-	1
8-62438600-G-A	c.1836C>T	p.F612=	Synonymous	22/25	-	1
8-62438607-C-T	c.1829G>A	p.G610D	Missense	22/25	-	1
8-62438629-C-G	c.1807G>C	p.A603P	Missense	22/25	-	1
8-62438634-C-T	c.1802G>A	p.G601D	Missense	22/25	-	1
8-62438635-C-G	c.1801G>C	p.G601R	Missense	22/25	-	1
8-62438643-C-A	c.1793G>T	p.R598L	Missense	22/25	-	1
8-62438644-G-A	c.1792C>T	p.R598*	Nonsense	22/25	-	1
8-62438651-CT-C	c.1784del	p.K595Sfs*2	Frameshift	22/25	-	1
8-62438654-C-A	c.1782G>T	p.W594C	Missense	22/25	-	2
8-62438654-C-T	c.1782G>A	p.W594*	Nonsense	22/25	-	1
8-62438657-G-C	c.1779C>G	p.N593K	Missense	22/25	-	1
8-62438657-G-T	c.1779C>A	p.N593K	Missense	22/25	-	1
8-62438660-TCT-ACA	c.1774_1776delinsTGT	p.R592C	Missense	22/25	-	1
8-62438665-C-T	c.1771G>A	p.E591K	Missense	22/25	-	1
8-62438670-G-A	c.1766C>T	p.S589F	Missense	22/25	-	2
8-62453921-TA-T	c.1764+6708del	-	IntronicDeletion	-	21/24	1
8-62454318-A-C	c.1764+6312T>G	-	IntronicSNV	-	21/24	1
8-62460628-A-G	c.1764+2T>C	-	IntronicSNV	-	21/24	1
8-62460629-C-T	c.1764+1G>A	-	IntronicSNV	-	21/24	1
8-62460635-C-T	c.1759G>A	p.V587I	Missense	21/25	-	3
8-62460645-G-A	c.1749C>T	p.Y583=	Synonymous	21/25	-	1
8-62460646-T-C	c.1748A>G	p.Y583C	Missense	21/25	-	1
8-62460649-C-G	c.1745G>C	p.G582A	Missense	21/25	-	1
8-62460650-C-A	c.1744G>T	p.G582C	Missense	21/25	-	1
8-62460651-C-T	c.1743G>A	p.T581=	Synonymous	21/25	-	1
8-62460652-G-A	c.1742C>T	p.T581M	Missense	21/25	-	2
8-62460655-T-C	c.1739A>G	p.E580G	Missense	21/25	-	1
8-62460656-C-A	c.1738G>T	p.E580*	Nonsense	21/25	-	1
8-62460656-C-T	c.1738G>A	p.E580K	Missense	21/25	-	2
8-62460657-T-A	c.1737A>T	p.K579N	Missense	21/25	-	2
8-62460657-T-G	c.1737A>C	p.K579N	Missense	21/25	-	4
8-62460658-T-C	c.1736A>G	p.K579R	Missense	21/25	-	1
8-62460660-T-C	c.1734A>G	p.P578=	Synonymous	21/25	-	1
8-62460660-T-TG	c.1733dup	p.E580Rfs*21	Frameshift	21/25	-	2
8-62460665-T-C	c.1729A>G	p.T577A	Missense	21/25	-	2
8-62460670-C-A	c.1724G>T	p.W575L	Missense	21/25	-	1
8-62460673-G-A	c.1721C>T	p.P574L	Missense	21/25	-	1
8-62460676-T-A	c.1718A>T	p.Q573L	Missense	21/25	-	1
8-62460680-C-T	c.1714G>A	p.A572T	Missense	21/25	-	1
8-62460688-C-T	c.1706G>A	p.G569E	Missense	21/25	-	2
8-62460693-C-A	c.1701G>T	p.V567=	Synonymous	21/25	-	2
8-62460693-C-G	c.1701G>C	p.V567=	Synonymous	21/25	-	2
8-62460693-C-T	c.1701G>A	p.V567=	Synonymous	21/25	-	3
8-62460694-A-C	c.1700T>G	p.V567G	Missense	21/25	-	1
8-62460695-C-A	c.1699G>T	p.V567L	Missense	21/25	-	2
8-62460699-G-C	c.1695C>G	p.Y565*	Nonsense	21/25	-	1
8-62460699-G-T	c.1695C>A	p.Y565*	Nonsense	21/25	-	3
8-62460700-T-C	c.1694A>G	p.Y565C	Missense	21/25	-	1
8-62460708-GCG-CCA	c.1684_1686delinsTGG	p.R562W	Missense	21/25	-	1
8-62460709-C-T	c.1685G>A	p.R562H	Missense	21/25	-	3
8-62460710-G-A	c.1684C>T	p.R562C	Missense	21/25	-	2
8-62460714-C-G	c.1680G>C	p.W560C	Missense	21/25	-	1
8-62460717-G-C	c.1677C>G	p.V559=	Synonymous	21/25	-	1
8-62460719-C-A	c.1675G>T	p.V559F	Missense	21/25	-	1
8-62460719-C-G	c.1675G>C	p.V559L	Missense	21/25	-	1
8-62460721-G-T	c.1673C>A	p.S558Y	Missense	21/25	-	1
8-62460724-G-C	c.1670C>G	p.A557G	Missense	21/25	-	1
8-62460725-C-T	c.1669G>A	p.A557T	Missense	21/25	-	1
8-62460731-G-T	c.1663C>A	p.H555N	Missense	21/25	-	1
8-62460735-TCT-ACA	c.1657_1659delinsTGT	p.R553C	Missense	21/25	-	1
8-62460736-C-T	c.1658G>A	p.R553K	Missense	21/25	-	1
8-62460739-T-C	c.1655A>G	p.K552R	Missense	21/25	-	1
8-62460741-G-C	c.1653C>G	p.H551Q	Missense	21/25	-	1
8-62460746-C-A	c.1648G>T	p.G550W	Missense	21/25	-	1
8-62460748-A-AG	c.1645dup	p.L549Pfs*52	Frameshift	21/25	-	1
8-62460749-G-A	c.1645C>T	p.L549F	Missense	21/25	-	2
8-62460750-C-A	c.1644G>T	p.E548D	Missense	21/25	-	1
8-62460750-C-G	c.1644G>C	p.E548D	Missense	21/25	-	1
8-62460750-C-T	c.1644G>A	p.E548=	Synonymous	21/25	-	2
8-62460751-T-A	c.1643A>T	p.E548V	Missense	21/25	-	2
8-62460752-C-G	c.1642G>C	p.E548Q	Missense	21/25	-	1
8-62460753-A-C	c.1641T>G	p.Y547*	Nonsense	21/25	-	1
8-62460753-A-T	c.1641T>A	p.Y547*	Nonsense	21/25	-	1
8-62460755-A-G	c.1639T>C	p.Y547H	Missense	21/25	-	2
8-62460886-A-G	c.1627-119T>C	-	IntronicSNV	-	20/24	3
8-62460894-G-A	c.1627-127C>T	-	IntronicSNV	-	20/24	3
8-62460894-G-C	c.1627-127C>G	-	IntronicSNV	-	20/24	3
8-62463597-G-T	c.1626+1993C>A	-	IntronicSNV	-	20/24	2
8-62465580-T-C	c.1626+10A>G	-	IntronicSNV	-	20/24	7
8-62465590-C-A	c.1626G>T	p.E542D	Missense	20/25	-	1
8-62465590-C-G	c.1626G>C	p.E542D	Missense	20/25	-	1
8-62465592-C-G	c.1624G>C	p.E542Q	Missense	20/25	-	1
8-62465592-C-T	c.1624G>A	p.E542K	Missense	20/25	-	1
8-62465600-C-A	c.1616G>T	p.G539V	Missense	20/25	-	2
8-62465600-C-G	c.1616G>C	p.G539A	Missense	20/25	-	1
8-62465603-A-G	c.1613T>C	p.V538A	Missense	20/25	-	1
8-62465608-C-A	c.1608G>T	p.Q536H	Missense	20/25	-	1
8-62465608-C-G	c.1608G>C	p.Q536H	Missense	20/25	-	2
8-62465610-G-A	c.1606C>T	p.Q536*	Nonsense	20/25	-	1
8-62465611-C-A	c.1605G>T	p.M535I	Missense	20/25	-	1
8-62465611-C-G	c.1605G>C	p.M535I	Missense	20/25	-	1
8-62465611-C-T	c.1605G>A	p.M535I	Missense	20/25	-	2
8-62465612-A-G	c.1604T>C	p.M535T	Missense	20/25	-	1
8-62465615-G-A	c.1601C>T	p.A534V	Missense	20/25	-	2
8-62465615-G-C	c.1601C>G	p.A534G	Missense	20/25	-	1
8-62465619-C-T	c.1597G>A	p.D533N	Missense	20/25	-	1
8-62465621-C-A	c.1595G>T	p.G532V	Missense	20/25	-	1
8-62465621-C-T	c.1595G>A	p.G532E	Missense	20/25	-	1
8-62465628-G-A	c.1588C>T	p.H530Y	Missense	20/25	-	2
8-62465629-G-A	c.1587C>T	p.F529=	Synonymous	20/25	-	1
8-62465635-A-G	c.1581T>C	p.F527=	Synonymous	20/25	-	1
8-62465638-TCT-GTC	c.1576_1578delinsGAC	p.R526D	Missense	20/25	-	1
8-62465646-C-G	c.1570G>C	p.D524H	Missense	20/25	-	1
8-62465658-G-C	c.1558C>G	p.P520A	Missense	20/25	-	1
8-62465661-C-A	c.1555G>T	p.D519Y	Missense	20/25	-	1
8-62465661-C-T	c.1555G>A	p.D519N	Missense	20/25	-	1
8-62465664-C-A	c.1552G>T	p.G518*	Nonsense	20/25	-	1
8-62465664-C-G	c.1552G>C	p.G518R	Missense	20/25	-	3
8-62465664-C-T	c.1552G>A	p.G518R	Missense	20/25	-	4
8-62465665-G-A	c.1551C>T	p.S517=	Synonymous	20/25	-	2
8-62465665-G-C	c.1551C>G	p.S517=	Synonymous	20/25	-	1
8-62465665-G-T	c.1551C>A	p.S517=	Synonymous	20/25	-	1
8-62465666-G-A	c.1550C>T	p.S517F	Missense	20/25	-	4
8-62465795-T-C	c.1537-116A>G	-	IntronicSNV	-	19/24	4
8-62465814-G-T	c.1537-135C>A	-	IntronicSNV	-	19/24	5
8-62468479-T-C	c.1536+4A>G	-	IntronicSNV	-	19/24	1
8-62468493-G-A	c.1526C>T	p.P509L	Missense	19/25	-	1
8-62468495-G-A	c.1524C>T	p.I508=	Synonymous	19/25	-	3
8-62468497-T-G	c.1522A>C	p.I508L	Missense	19/25	-	1
8-62468505-G-C	c.1514C>G	p.A505G	Missense	19/25	-	1
8-62468505-G-T	c.1514C>A	p.A505D	Missense	19/25	-	1
8-62468515-T-A	c.1504A>T	p.N502Y	Missense	19/25	-	1
8-62468518-G-C	c.1501C>G	p.Q501E	Missense	19/25	-	1
8-62468520-G-A	c.1499C>T	p.A500V	Missense	19/25	-	1
8-62468522-C-A	c.1497G>T	p.K499N	Missense	19/25	-	1
8-62468530-T-G	c.1489A>C	p.I497L	Missense	19/25	-	1
8-62468533-A-C	c.1486T>G	p.F496V	Missense	19/25	-	1
8-62468539-A-C	c.1480T>G	p.Y494D	Missense	19/25	-	1
8-62468540-A-C	c.1479T>G	p.H493Q	Missense	19/25	-	1
8-62468540-A-T	c.1479T>A	p.H493Q	Missense	19/25	-	2
8-62468550-G-A	c.1469C>T	p.A490V	Missense	19/25	-	1
8-62468556-C-T	c.1463G>A	p.G488D	Missense	19/25	-	1
8-62468560-C-A	c.1459G>T	p.D487Y	Missense	19/25	-	1
8-62468565-G-A	c.1454C>T	p.P485L	Missense	19/25	-	1
8-62468567-T-A	c.1452A>T	p.T484=	Synonymous	19/25	-	1
8-62468567-T-C	c.1452A>G	p.T484=	Synonymous	19/25	-	1
8-62468567-T-G	c.1452A>C	p.T484=	Synonymous	19/25	-	1
8-62468569-T-C	c.1450A>G	p.T484A	Missense	19/25	-	1
8-62468574-C-A	c.1445G>T	p.S482I	Missense	19/25	-	1
8-62468582-C-A	c.1438-1G>T	-	IntronicSNV	-	18/24	1
8-62473691-G-A	c.1437+1612C>T	-	IntronicSNV	-	18/24	1
8-62475160-A-G	c.1437+143T>C	-	IntronicSNV	-	18/24	2
8-62475231-G-C	c.1437+72C>G	-	IntronicSNV	-	18/24	1
8-62475276-C-G	c.1437+27G>C	-	IntronicSNV	-	18/24	5
8-62475276-C-T	c.1437+27G>A	-	IntronicSNV	-	18/24	7
8-62475298-C-T	c.1437+5G>A	-	IntronicSNV	-	18/24	1
8-62475305-C-CT	c.1434dup	p.E479Rfs*8	Frameshift	18/25	-	1
8-62475310-T-A	c.1430A>T	p.Y477F	Missense	18/25	-	2
8-62475314-C-A	c.1426G>T	p.V476F	Missense	18/25	-	1
8-62475314-C-T	c.1426G>A	p.V476I	Missense	18/25	-	1
8-62475316-T-C	c.1424A>G	p.K475R	Missense	18/25	-	1
8-62475322-G-C	c.1418C>G	p.A473G	Missense	18/25	-	1
8-62475329-C-T	c.1411G>A	p.D471N	Missense	18/25	-	1
8-62475332-T-G	c.1408A>C	p.N470H	Missense	18/25	-	1
8-62475336-T-C	c.1404A>G	p.G468=	Synonymous	18/25	-	1
8-62475338-C-T	c.1402G>A	p.G468R	Missense	18/25	-	1
8-62475342-C-A	c.1398G>T	p.L466F	Missense	18/25	-	2
8-62475342-C-G	c.1398G>C	p.L466F	Missense	18/25	-	2
8-62475346-A-C	c.1394T>G	p.L465R	Missense	18/25	-	1
8-62475347-G-A	c.1393C>T	p.L465F	Missense	18/25	-	1
8-62475350-A-G	c.1390T>C	p.Y464H	Missense	18/25	-	1
8-62475352-C-G	c.1388G>C	p.G463A	Missense	18/25	-	1
8-62475356-C-T	c.1384G>A	p.V462M	Missense	18/25	-	2
8-62475357-G-A	c.1383C>T	p.G461=	Synonymous	18/25	-	2
8-62475357-G-C	c.1383C>G	p.G461=	Synonymous	18/25	-	1
8-62475357-G-T	c.1383C>A	p.G461=	Synonymous	18/25	-	1
8-62475363-G-C	c.1377C>G	p.D459E	Missense	18/25	-	1
8-62475363-G-T	c.1377C>A	p.D459E	Missense	18/25	-	1
8-62475365-C-A	c.1375G>T	p.D459Y	Missense	18/25	-	1
8-62475365-TC-T	c.1375del	p.D459Tfs*8	Frameshift	18/25	-	1
8-62475368-T-TA	c.1371_1372insT	p.N458*	Nonsense	18/25	-	1
8-62475366-A-AT	c.1373dup	p.N458Kfs*2	Frameshift	18/25	-	1
8-62475366-AT-A	c.1373del	p.N458Mfs*9	Frameshift	18/25	-	2
8-62475374-A-C	c.1366T>G	p.L456V	Missense	18/25	-	1
8-62475374-A-G	c.1366T>C	p.L456=	Synonymous	18/25	-	2
8-62475376-G-A	c.1364C>T	p.S455F	Missense	18/25	-	3
8-62475379-G-A	c.1361C>T	p.T454I	Missense	18/25	-	3
8-62475380-T-C	c.1360A>G	p.T454A	Missense	18/25	-	1
8-62475383-C-A	c.1357G>T	p.D453Y	Missense	18/25	-	2
8-62475386-T-C	c.1354A>G	p.N452D	Missense	18/25	-	2
8-62475386-T-G	c.1354A>C	p.N452H	Missense	18/25	-	1
8-62475388-G-A	c.1352C>T	p.P451L	Missense	18/25	-	2
8-62475389-G-A	c.1351C>T	p.P451S	Missense	18/25	-	2
8-62475389-G-T	c.1351C>A	p.P451T	Missense	18/25	-	1
8-62475390-A-G	c.1350T>C	p.F450=	Synonymous	18/25	-	1
8-62475396-T-A	c.1344A>T	p.Q448H	Missense	18/25	-	1
8-62475396-T-C	c.1344A>G	p.Q448=	Synonymous	18/25	-	1
8-62475396-T-G	c.1344A>C	p.Q448H	Missense	18/25	-	1
8-62475398-G-T	c.1342C>A	p.Q448K	Missense	18/25	-	1
8-62475402-T-A	c.1338A>T	p.L446F	Missense	18/25	-	1
8-62475403-A-C	c.1337T>G	p.L446*	Nonsense	18/25	-	2
8-62475403-A-T	c.1337T>A	p.L446*	Nonsense	18/25	-	1
8-62475406-C-A	c.1334G>T	p.R445I	Missense	18/25	-	1
8-62475406-C-T	c.1334G>A	p.R445K	Missense	18/25	-	1
8-62475414-G-A	c.1326C>T	p.T442=	Synonymous	18/25	-	1
8-62475414-G-C	c.1326C>G	p.T442=	Synonymous	18/25	-	1
8-62475414-G-T	c.1326C>A	p.T442=	Synonymous	18/25	-	1
8-62475419-G-A	c.1321C>T	p.L441F	Missense	18/25	-	1
8-62475420-C-T	c.1320G>A	p.L440=	Synonymous	18/25	-	1
8-62475427-C-T	c.1313G>A	p.G438D	Missense	18/25	-	1
8-62475427-C-CCTCT	c.1309_1312dup	p.G438Efs*17	Frameshift	18/25	-	1
8-62475435-A-G	c.1305T>C	p.H435=	Synonymous	18/25	-	1
8-62475439-C-A	c.1301G>T	p.G434V	Missense	18/25	-	3
8-62475518-G-C	c.1301-79C>G	-	IntronicSNV	-	17/24	3
8-62478473-C-T	c.1300+1254G>A	-	IntronicSNV	-	17/24	1
8-62478586-C-T	c.1300+1141G>A	-	IntronicSNV	-	17/24	1
8-62478892-A-G	c.1300+835T>C	-	IntronicSNV	-	17/24	1
8-62479397-A-G	c.1300+330T>C	-	IntronicSNV	-	17/24	1
8-62479730-G-A	c.1297C>T	p.L433=	Synonymous	17/25	-	3
8-62479730-G-C	c.1297C>G	p.L433V	Missense	17/25	-	1
8-62479734-T-A	c.1293A>T	p.Q431H	Missense	17/25	-	2
8-62479734-T-G	c.1293A>C	p.Q431H	Missense	17/25	-	3
8-62479738-T-C	c.1289A>G	p.Q430R	Missense	17/25	-	1
8-62479744-T-A	c.1283A>T	p.D428V	Missense	17/25	-	1
8-62479746-T-A	c.1281A>T	p.S427=	Synonymous	17/25	-	1
8-62479746-T-C	c.1281A>G	p.S427=	Synonymous	17/25	-	1
8-62479746-T-G	c.1281A>C	p.S427=	Synonymous	17/25	-	1
8-62479750-CG-GT	c.1276_1277delinsAC	p.R426T	Missense	17/25	-	1
8-62479750-C-T	c.1277G>A	p.R426H	Missense	17/25	-	1
8-62479751-G-A	c.1276C>T	p.R426C	Missense	17/25	-	3
8-62479753-C-A	c.1274G>T	p.R425L	Missense	17/25	-	1
8-62479753-C-T	c.1274G>A	p.R425H	Missense	17/25	-	1
8-62479754-G-A	c.1273C>T	p.R425C	Missense	17/25	-	1
8-62479760-A-C	c.1267T>G	p.L423V	Missense	17/25	-	1
8-62479774-AG-GA	c.1252_1253delinsTC	p.L418S	Missense	17/25	-	1
8-62479775-G-C	c.1252C>G	p.L418V	Missense	17/25	-	2
8-62479776-G-T	c.1251C>A	p.D417E	Missense	17/25	-	1
8-62479781-C-T	c.1246G>A	p.A416T	Missense	17/25	-	1
8-62479785-G-A	c.1242C>T	p.V414=	Synonymous	17/25	-	3
8-62479788-A-G	c.1239T>C	p.D413=	Synonymous	17/25	-	1
8-62479789-T-A	c.1238A>T	p.D413V	Missense	17/25	-	1
8-62479789-T-C	c.1238A>G	p.D413G	Missense	17/25	-	1
8-62479790-C-T	c.1237G>A	p.D413N	Missense	17/25	-	1
8-62479792-G-A	c.1235C>T	p.P412L	Missense	17/25	-	1
8-62479795-A-G	c.1232T>C	p.L411P	Missense	17/25	-	2
8-62479799-T-C	c.1228A>G	p.S410G	Missense	17/25	-	2
8-62479804-A-G	c.1223T>C	p.V408A	Missense	17/25	-	1
8-62479808-C-T	c.1219G>A	p.E407K	Missense	17/25	-	1
8-62479811-G-A	c.1216C>T	p.Q406*	Nonsense	17/25	-	2
8-62479816-G-A	c.1211C>T	p.T404I	Missense	17/25	-	1
8-62479820-C-T	c.1207G>A	p.E403K	Missense	17/25	-	3
8-62479821-G-A	c.1206C>T	p.I402=	Synonymous	17/25	-	1
8-62479826-C-T	c.1201G>A	p.A401T	Missense	17/25	-	1
8-62479829-C-T	c.1198G>A	p.G400R	Missense	17/25	-	1
8-62479830-AC-TT	c.1196_1197delinsAA	p.R399Q	Missense	17/25	-	1
8-62479831-C-A	c.1196G>T	p.R399L	Missense	17/25	-	3
8-62479831-C-T	c.1196G>A	p.R399H	Missense	17/25	-	3
8-62479832-G-A	c.1195C>T	p.R399C	Missense	17/25	-	1
8-62479836-C-T	c.1191G>A	p.V397=	Synonymous	17/25	-	1
8-62479849-C-A	c.1178G>T	p.R393I	Missense	17/25	-	1
8-62479850-T-TA	c.1176_1177insT	p.R393*	Nonsense	17/25	-	1
8-62479852-C-T	c.1175G>A	p.R392K	Missense	17/25	-	1
8-62479853-T-A	c.1174A>T	p.R392W	Missense	17/25	-	1
8-62479857-C-T	c.1170G>A	p.E390=	Synonymous	17/25	-	3
8-62479859-C-T	c.1168G>A	p.E390K	Missense	17/25	-	1
8-62479860-A-G	c.1167T>C	p.A389=	Synonymous	17/25	-	1
8-62479868-C-T	c.1159G>A	p.D387N	Missense	17/25	-	1
8-62479925-T-A	c.1150-48A>T	-	IntronicSNV	-	16/24	2
8-62479934-C-T	c.1150-57G>A	-	IntronicSNV	-	16/24	4
8-62480070-G-A	c.1150-193C>T	-	IntronicSNV	-	16/24	2
8-62481520-A-G	c.1150-1643T>C	-	IntronicSNV	-	16/24	1
8-62484535-C-T	c.1150-4658G>A	-	IntronicSNV	-	16/24	1
8-62489214-T-A	c.1149+117A>T	-	IntronicSNV	-	16/24	2
8-62489247-G-A	c.1149+84C>T	-	IntronicSNV	-	16/24	1
8-62489330-C-T	c.1149+1G>A	-	IntronicSNV	-	16/24	1
8-62489334-C-A	c.1146G>T	p.A382=	Synonymous	16/25	-	10
8-62489334-C-G	c.1146G>C	p.A382=	Synonymous	16/25	-	2
8-62489334-C-T	c.1146G>A	p.A382=	Synonymous	16/25	-	11
8-62489335-G-A	c.1145C>T	p.A382V	Missense	16/25	-	1
8-62489340-CCC-GCT	c.1138_1140delinsAGC	p.G380S	Missense	16/25	-	1
8-62489342-C-T	c.1138G>A	p.G380R	Missense	16/25	-	1
8-62489347-C-G	c.1133G>C	p.R378T	Missense	16/25	-	1
8-62489351-C-G	c.1129G>C	p.A377P	Missense	16/25	-	4
8-62489351-C-T	c.1129G>A	p.A377T	Missense	16/25	-	1
8-62489352-TC-AT	c.1127_1128delinsAT	p.R376H	Missense	16/25	-	1
8-62489353-C-A	c.1127G>T	p.R376L	Missense	16/25	-	1
8-62489353-C-T	c.1127G>A	p.R376Q	Missense	16/25	-	1
8-62489354-G-A	c.1126C>T	p.R376*	Nonsense	16/25	-	1
8-62489354-G-T	c.1126C>A	p.R376=	Synonymous	16/25	-	1
8-62489356-G-A	c.1124C>T	p.P375L	Missense	16/25	-	1
8-62489361-C-A	c.1119G>T	p.Q373H	Missense	16/25	-	2
8-62489361-C-G	c.1119G>C	p.Q373H	Missense	16/25	-	1
8-62489362-T-C	c.1118A>G	p.Q373R	Missense	16/25	-	1
8-62489363-G-A	c.1117C>T	p.Q373*	Nonsense	16/25	-	1
8-62489363-G-C	c.1117C>G	p.Q373E	Missense	16/25	-	1
8-62489366-G-A	c.1114C>T	p.P372S	Missense	16/25	-	6
8-62489367-G-A	c.1113C>T	p.Y371=	Synonymous	16/25	-	1
8-62489367-G-C	c.1113C>G	p.Y371*	Nonsense	16/25	-	1
8-62489367-G-T	c.1113C>A	p.Y371*	Nonsense	16/25	-	1
8-62489370-T-C	c.1110A>G	p.K370=	Synonymous	16/25	-	1
8-62489374-CG-AT	c.1105_1106delinsAT	p.R369I	Missense	16/25	-	1
8-62489374-C-T	c.1106G>A	p.R369H	Missense	16/25	-	4
8-62489375-G-A	c.1105C>T	p.R369C	Missense	16/25	-	3
8-62489375-G-T	c.1105C>A	p.R369S	Missense	16/25	-	1
8-62489380-AG-GA	c.1099_1100delinsTC	p.L367S	Missense	16/25	-	1
8-62489381-G-A	c.1099C>T	p.L367=	Synonymous	16/25	-	1
8-62489384-C-A	c.1096G>T	p.E366*	Nonsense	16/25	-	2
8-62489388-A-C	c.1092T>G	p.F364L	Missense	16/25	-	1
8-62489388-A-T	c.1092T>A	p.F364L	Missense	16/25	-	1
8-62489390-A-G	c.1090T>C	p.F364L	Missense	16/25	-	1
8-62489391-T-A	c.1089A>T	p.A363=	Synonymous	16/25	-	1
8-62489391-T-C	c.1089A>G	p.A363=	Synonymous	16/25	-	1
8-62489391-T-G	c.1089A>C	p.A363=	Synonymous	16/25	-	1
8-62489393-C-G	c.1087G>C	p.A363P	Missense	16/25	-	2
8-62489393-C-T	c.1087G>A	p.A363T	Missense	16/25	-	1
8-62489394-A-C	c.1086T>G	p.N362K	Missense	16/25	-	1
8-62489394-A-G	c.1086T>C	p.N362=	Synonymous	16/25	-	1
8-62489394-A-T	c.1086T>A	p.N362K	Missense	16/25	-	1
8-62489395-T-C	c.1085A>G	p.N362S	Missense	16/25	-	1
8-62489396-T-C	c.1084A>G	p.N362D	Missense	16/25	-	1
8-62489397-CAC-GAT	c.1081_1083delinsATC	p.V361I	Missense	16/25	-	1
8-62489401-G-A	c.1079C>T	p.A360V	Missense	16/25	-	1
8-62489407-T-C	c.1073A>G	p.E358G	Missense	16/25	-	1
8-62489410-A-T	c.1070T>A	p.I357N	Missense	16/25	-	1
8-62489410-AT-A	c.1069del	p.I357Lfs*5	Frameshift	16/25	-	1
8-62489418-C-T	c.1063-1G>A	-	IntronicSNV	-	15/24	1
8-62489538-A-C	c.1063-121T>G	-	IntronicSNV	-	15/24	4
8-62489538-A-T	c.1063-121T>A	-	IntronicSNV	-	15/24	4
8-62490795-T-C	c.1063-1378A>G	-	IntronicSNV	-	15/24	3
8-62490845-C-T	c.1063-1428G>A	-	IntronicSNV	-	15/24	2
8-62490873-A-G	c.1063-1456T>C	-	IntronicSNV	-	15/24	2
8-62490931-A-C	c.1063-1514T>G	-	IntronicSNV	-	15/24	2
8-62490931-A-T	c.1063-1514T>A	-	IntronicSNV	-	15/24	2
8-62490978-T-A	c.1063-1561A>T	-	IntronicSNV	-	15/24	2
8-62490978-T-C	c.1063-1561A>G	-	IntronicSNV	-	15/24	2
8-62490998-A-G	c.1063-1581T>C	-	IntronicSNV	-	15/24	1
8-62491037-G-C	c.1063-1620C>G	-	IntronicSNV	-	15/24	1
8-62491095-C-G	c.1063-1678G>C	-	IntronicSNV	-	15/24	2
8-62491095-C-T	c.1063-1678G>A	-	IntronicSNV	-	15/24	2
8-62491107-G-A	c.1063-1690C>T	-	IntronicSNV	-	15/24	2
8-62491107-G-C	c.1063-1690C>G	-	IntronicSNV	-	15/24	2
8-62491170-T-A	c.1063-1753A>T	-	IntronicSNV	-	15/24	3
8-62491170-T-C	c.1063-1753A>G	-	IntronicSNV	-	15/24	3
8-62491335-A-G	c.1063-1918T>C	-	IntronicSNV	-	15/24	1
8-62491351-T-C	c.1063-1934A>G	-	IntronicSNV	-	15/24	1
8-62491432-T-A	c.1063-2015A>T	-	IntronicSNV	-	15/24	1
8-62491432-T-C	c.1063-2015A>G	-	IntronicSNV	-	15/24	1
8-62491435-C-T	c.1063-2018G>A	-	IntronicSNV	-	15/24	1
8-62491459-G-A	c.1063-2042C>T	-	IntronicSNV	-	15/24	1
8-62491462-C-T	c.1063-2045G>A	-	IntronicSNV	-	15/24	2
8-62491466-A-G	c.1063-2049T>C	-	IntronicSNV	-	15/24	1
8-62491534-C-G	c.1063-2117G>C	-	IntronicSNV	-	15/24	1
8-62491628-A-G	c.1063-2211T>C	-	IntronicSNV	-	15/24	1
8-62491679-T-C	c.1063-2262A>G	-	IntronicSNV	-	15/24	1
8-62491683-G-A	c.1063-2266C>T	-	IntronicSNV	-	15/24	1
8-62491683-G-T	c.1063-2266C>A	-	IntronicSNV	-	15/24	1
8-62491712-T-C	c.1063-2295A>G	-	IntronicSNV	-	15/24	1
8-62491725-A-G	c.1063-2308T>C	-	IntronicSNV	-	15/24	1
8-62491800-G-A	c.1063-2383C>T	-	IntronicSNV	-	15/24	1
8-62491852-T-C	c.1063-2435A>G	-	IntronicSNV	-	15/24	1
8-62491882-A-G	c.1063-2465T>C	-	IntronicSNV	-	15/24	1
8-62491943-G-A	c.1063-2526C>T	-	IntronicSNV	-	15/24	3
8-62491970-A-G	c.1063-2553T>C	-	IntronicSNV	-	15/24	1
8-62491972-A-G	c.1063-2555T>C	-	IntronicSNV	-	15/24	1
8-62491985-A-G	c.1063-2568T>C	-	IntronicSNV	-	15/24	4
8-62492090-G-A	c.1063-2673C>T	-	IntronicSNV	-	15/24	1
8-62492284-A-G	c.1063-2867T>C	-	IntronicSNV	-	15/24	2
8-62493028-C-A	c.1062+3475G>T	-	IntronicSNV	-	15/24	1
8-62495263-C-T	c.1062+1240G>A	-	IntronicSNV	-	15/24	1
8-62495945-C-G	c.1062+558G>C	-	IntronicSNV	-	15/24	1
8-62495945-C-T	c.1062+558G>A	-	IntronicSNV	-	15/24	1
8-62496415-C-T	c.1062+88G>A	-	IntronicSNV	-	15/24	2
8-62496421-A-AT	c.1062+81dup	-	IntronicInsertion	-	15/24	1
8-62496438-C-A	c.1062+65G>T	-	IntronicSNV	-	15/24	1
8-62496438-C-T	c.1062+65G>A	-	IntronicSNV	-	15/24	1
8-62496502-C-T	c.1062+1G>A	-	IntronicSNV	-	15/24	1
8-62496504-C-A	c.1061G>T	p.R354M	Missense	15/25	-	3
8-62496504-C-T	c.1061G>A	p.R354K	Missense	15/25	-	1
8-62496506-T-A	c.1059A>T	p.K353N	Missense	15/25	-	1
8-62496506-T-G	c.1059A>C	p.K353N	Missense	15/25	-	1
8-62496508-T-C	c.1057A>G	p.K353E	Missense	15/25	-	1
8-62496512-G-A	c.1053C>T	p.L351=	Synonymous	15/25	-	1
8-62496512-G-C	c.1053C>G	p.L351=	Synonymous	15/25	-	1
8-62496512-G-T	c.1053C>A	p.L351=	Synonymous	15/25	-	1
8-62496514-AGTT-A	c.1049_1051del	p.K350_L351delinsI	MultiAAMissense	15/25	-	1
8-62496515-T-A	c.1050A>T	p.K350N	Missense	15/25	-	1
8-62496515-T-G	c.1050A>C	p.K350N	Missense	15/25	-	1
8-62496516-T-C	c.1049A>G	p.K350R	Missense	15/25	-	2
8-62496514-GT-G	c.1050del	p.K350Nfs*12	Frameshift	15/25	-	1
8-62496520-C-T	c.1045G>A	p.E349K	Missense	15/25	-	1
8-62496523-C-T	c.1042G>A	p.A348T	Missense	15/25	-	1
8-62496529-C-T	c.1036G>A	p.D346N	Missense	15/25	-	1
8-62496530-A-G	c.1035T>C	p.L345=	Synonymous	15/25	-	1
8-62496531-A-T	c.1034T>A	p.L345H	Missense	15/25	-	1
8-62496537-G-A	c.1028C>T	p.A343V	Missense	15/25	-	1
8-62496537-G-T	c.1028C>A	p.A343D	Missense	15/25	-	1
8-62496539-T-C	c.1026A>G	p.K342=	Synonymous	15/25	-	1
8-62496540-T-C	c.1025A>G	p.K342R	Missense	15/25	-	2
8-62496542-A-G	c.1023T>C	p.I341=	Synonymous	15/25	-	1
8-62496544-T-C	c.1021A>G	p.I341V	Missense	15/25	-	1
8-62496545-A-C	c.1020T>G	p.T340=	Synonymous	15/25	-	1
8-62496545-A-G	c.1020T>C	p.T340=	Synonymous	15/25	-	1
8-62496545-A-T	c.1020T>A	p.T340=	Synonymous	15/25	-	1
8-62496554-A-C	c.1011T>G	p.F337L	Missense	15/25	-	3
8-62496554-A-T	c.1011T>A	p.F337L	Missense	15/25	-	1
8-62496556-A-G	c.1009T>C	p.F337L	Missense	15/25	-	1
8-62496557-T-A	c.1008A>T	p.K336N	Missense	15/25	-	1
8-62496557-T-G	c.1008A>C	p.K336N	Missense	15/25	-	1
8-62496558-T-G	c.1007A>C	p.K336T	Missense	15/25	-	1
8-62496559-T-A	c.1006A>T	p.K336*	Nonsense	15/25	-	1
8-62496559-T-C	c.1006A>G	p.K336E	Missense	15/25	-	1
8-62496572-A-C	c.993T>G	p.P331=	Synonymous	15/25	-	1
8-62496572-A-G	c.993T>C	p.P331=	Synonymous	15/25	-	2
8-62496572-A-T	c.993T>A	p.P331=	Synonymous	15/25	-	1
8-62496573-G-C	c.992C>G	p.P331R	Missense	15/25	-	2
8-62496574-G-A	c.991C>T	p.P331S	Missense	15/25	-	1
8-62496574-G-C	c.991C>G	p.P331A	Missense	15/25	-	1
8-62496574-G-T	c.991C>A	p.P331T	Missense	15/25	-	3
8-62496576-TT-GC	c.988_989delinsGC	p.K330A	Missense	15/25	-	1
8-62496583-T-C	c.982A>G	p.K328E	Missense	15/25	-	1
8-62496584-C-A	c.981G>T	p.K327N	Missense	15/25	-	3
8-62496584-C-G	c.981G>C	p.K327N	Missense	15/25	-	2
8-62505593-C-T	c.977-9005G>A	-	IntronicSNV	-	14/24	1
8-62519435-T-TA	c.976+12101_976+12102insT	-	IntronicInsertion	-	14/24	1
8-62519435-T-TATTTTTTTCCATATCACCTGTGATA	c.976+12101_976+12102insTATCACAGGTGATATGGAAAAAAAT	-	IntronicInsertion	-	14/24	1
8-62519868-C-T	c.976+11669G>A	-	IntronicSNV	-	14/24	1
8-62519869-G-A	c.976+11668C>T	-	IntronicSNV	-	14/24	1
8-62519883-T-C	c.976+11654A>G	-	IntronicSNV	-	14/24	1
8-62525896-C-A	c.976+5641G>T	-	IntronicSNV	-	14/24	2
8-62525896-C-T	c.976+5641G>A	-	IntronicSNV	-	14/24	2
8-62531311-T-A	c.976+226A>T	-	IntronicSNV	-	14/24	1
8-62531453-T-A	c.976+84A>T	-	IntronicSNV	-	14/24	1
8-62531535-A-G	c.976+2T>C	-	IntronicSNV	-	14/24	1
8-62531538-T-A	c.975A>T	p.K325N	Missense	14/25	-	1
8-62531538-T-G	c.975A>C	p.K325N	Missense	14/25	-	1
8-62531542-G-T	c.971C>A	p.A324E	Missense	14/25	-	1
8-62531543-C-A	c.970G>T	p.A324S	Missense	14/25	-	1
8-62531549-G-A	c.964C>T	p.Q322*	Nonsense	14/25	-	1
8-62531552-C-A	c.961G>T	p.E321*	Nonsense	14/25	-	1
8-62531555-G-A	c.958C>T	p.P320S	Missense	14/25	-	2
8-62531558-C-A	c.955G>T	p.D319Y	Missense	14/25	-	1
8-62531558-C-T	c.955G>A	p.D319N	Missense	14/25	-	1
8-62531559-A-G	c.954T>C	p.D318=	Synonymous	14/25	-	1
8-62531564-T-C	c.949A>G	p.T317A	Missense	14/25	-	2
8-62531572-T-C	c.941A>G	p.N314S	Missense	14/25	-	1
8-62531574-T-C	c.939A>G	p.T313=	Synonymous	14/25	-	1
8-62531670-T-C	c.935-92A>G	-	IntronicSNV	-	13/24	5
8-62536347-C-T	c.935-4769G>A	-	IntronicSNV	-	13/24	1
8-62536731-G-A	c.935-5153C>T	-	IntronicSNV	-	13/24	3
8-62536731-G-T	c.935-5153C>A	-	IntronicSNV	-	13/24	3
8-62537309-A-G	c.935-5731T>C	-	IntronicSNV	-	13/24	6
8-62538132-A-C	c.935-6554T>G	-	IntronicSNV	-	13/24	1
8-62538780-C-T	c.935-7202G>A	-	IntronicSNV	-	13/24	1
8-62538942-A-AT	c.934+7299dup	-	IntronicInsertion	-	13/24	2
8-62538942-AT-A	c.934+7299del	-	IntronicDeletion	-	13/24	1
8-62544428-G-T	c.934+1814C>A	-	IntronicSNV	-	13/24	1
8-62545288-C-T	c.934+954G>A	-	IntronicSNV	-	13/24	3
8-62546204-T-A	c.934+38A>T	-	IntronicSNV	-	13/24	1
8-62546244-G-A	c.932C>T	p.P311L	Missense	13/25	-	2
8-62546248-G-A	c.928C>T	p.P310S	Missense	13/25	-	1
8-62546248-G-T	c.928C>A	p.P310T	Missense	13/25	-	1
8-62546254-C-T	c.922G>A	p.E308K	Missense	13/25	-	2
8-62546258-C-T	c.918G>A	p.Q306=	Synonymous	13/25	-	4
8-62546262-T-A	c.914A>T	p.E305V	Missense	13/25	-	1
8-62546263-C-A	c.913G>T	p.E305*	Nonsense	13/25	-	1
8-62546260-GTTC-G	c.913_915del	p.E305del	InFrameDeletion	13/25	-	1
8-62546266-C-A	c.910G>T	p.E304*	Nonsense	13/25	-	1
8-62546272-G-A	c.904C>T	p.P302S	Missense	13/25	-	3
8-62546276-A-G	c.900T>C	p.I300=	Synonymous	13/25	-	1
8-62546272-GA-G	c.903del	p.P302Lfs*33	Frameshift	13/25	-	1
8-62546272-G-GA	c.903dup	p.P302Sfs*14	Frameshift	13/25	-	1
8-62546278-T-C	c.898A>G	p.I300V	Missense	13/25	-	1
8-62546280-C-T	c.896G>A	p.S299N	Missense	13/25	-	3
8-62546282-T-C	c.894A>G	p.V298=	Synonymous	13/25	-	1
8-62546283-A-C	c.893T>G	p.V298G	Missense	13/25	-	1
8-62546284-C-A	c.892G>T	p.V298L	Missense	13/25	-	2
8-62546284-C-G	c.892G>C	p.V298L	Missense	13/25	-	1
8-62546325-C-T	c.890-39G>A	-	IntronicSNV	-	12/24	1
8-62550492-T-C	c.889+14A>G	-	IntronicSNV	-	12/24	1
8-62550504-A-AC	c.889+1dup	-	SpliceDonorInsertion	12/25	-	1
8-62550506-C-T	c.889G>A	p.E297K	Missense	12/25	-	1
8-62550508-T-G	c.887A>C	p.E296A	Missense	12/25	-	1
8-62550510-TAC-CAT	c.883_885delinsATG	p.V295M	Missense	12/25	-	2
8-62550512-C-T	c.883G>A	p.V295I	Missense	12/25	-	1
8-62550514-A-G	c.881T>C	p.I294T	Missense	12/25	-	4
8-62550517-A-C	c.878T>G	p.V293G	Missense	12/25	-	1
8-62550518-C-G	c.877G>C	p.V293L	Missense	12/25	-	1
8-62550518-C-T	c.877G>A	p.V293I	Missense	12/25	-	1
8-62550521-G-A	c.874C>T	p.Q292*	Nonsense	12/25	-	1
8-62550525-A-C	c.870T>G	p.D290E	Missense	12/25	-	2
8-62550526-T-A	c.869A>T	p.D290V	Missense	12/25	-	3
8-62550527-C-G	c.868G>C	p.D290H	Missense	12/25	-	1
8-62550530-C-A	c.865G>T	p.E289*	Nonsense	12/25	-	2
8-62550532-A-G	c.863T>C	p.V288A	Missense	12/25	-	1
8-62550532-A-T	c.863T>A	p.V288E	Missense	12/25	-	2
8-62550533-C-A	c.862G>T	p.V288L	Missense	12/25	-	2
8-62550534-A-C	c.861T>G	p.P287=	Synonymous	12/25	-	1
8-62550535-G-A	c.860C>T	p.P287L	Missense	12/25	-	1
8-62550535-G-C	c.860C>G	p.P287R	Missense	12/25	-	1
8-62550536-G-A	c.859C>T	p.P287S	Missense	12/25	-	1
8-62550537-A-C	c.858T>G	p.N286K	Missense	12/25	-	1
8-62550537-A-G	c.858T>C	p.N286=	Synonymous	12/25	-	2
8-62550537-A-T	c.858T>A	p.N286K	Missense	12/25	-	1
8-62550538-T-C	c.857A>G	p.N286S	Missense	12/25	-	3
8-62550539-T-C	c.856A>G	p.N286D	Missense	12/25	-	1
8-62550540-A-G	c.855T>C	p.D285=	Synonymous	12/25	-	1
8-62550542-C-T	c.853G>A	p.D285N	Missense	12/25	-	1
8-62550545-C-T	c.850G>A	p.E284K	Missense	12/25	-	1
8-62550549-G-T	c.846C>A	p.P282=	Synonymous	12/25	-	2
8-62550550-G-T	c.845C>A	p.P282H	Missense	12/25	-	1
8-62550551-G-A	c.844C>T	p.P282S	Missense	12/25	-	4
8-62550553-G-A	c.842C>T	p.A281V	Missense	12/25	-	1
8-62550557-T-C	c.838A>G	p.T280A	Missense	12/25	-	1
8-62550563-C-G	c.833-1G>C	-	IntronicSNV	-	11/24	1
8-62550843-T-A	c.832+38A>T	-	IntronicSNV	-	11/24	1
8-62550880-C-T	c.832+1G>A	-	IntronicSNV	-	11/24	1
8-62550885-G-T	c.828C>A	p.I276=	Synonymous	11/25	-	1
8-62550890-C-A	c.823G>T	p.E275*	Nonsense	11/25	-	5
8-62550891-TAT-ACA	c.820_822delinsTGT	p.I274C	Missense	11/25	-	1
8-62550892-A-G	c.821T>C	p.I274T	Missense	11/25	-	1
8-62550893-T-C	c.820A>G	p.I274V	Missense	11/25	-	1
8-62550894-C-A	c.819G>T	p.G273=	Synonymous	11/25	-	2
8-62550898-T-C	c.815A>G	p.E272G	Missense	11/25	-	1
8-62550905-C-A	c.808G>T	p.E270*	Nonsense	11/25	-	1
8-62550907-A-G	c.806T>C	p.L269P	Missense	11/25	-	1
8-62550908-G-A	c.805C>T	p.L269=	Synonymous	11/25	-	1
8-62550911-G-A	c.802C>T	p.P268S	Missense	11/25	-	2
8-62550912-T-A	c.801A>T	p.E267D	Missense	11/25	-	1
8-62550915-A-G	c.798T>C	p.Y266=	Synonymous	11/25	-	1
8-62550915-A-T	c.798T>A	p.Y266*	Nonsense	11/25	-	3
8-62550920-C-A	c.793G>T	p.V265L	Missense	11/25	-	2
8-62550920-C-G	c.793G>C	p.V265L	Missense	11/25	-	1
8-62550924-T-TG	c.791-3_791-2insC	-	IntronicInsertion	-	10/24	1
8-62554412-C-T	c.790+1035G>A	-	IntronicSNV	-	10/24	2
8-62555416-AG-A	c.790+31del	-	IntronicDeletion	-	10/24	1
8-62555416-G-A	c.790+31C>T	-	IntronicSNV	-	10/24	4
8-62555422-A-C	c.790+25T>G	-	IntronicSNV	-	10/24	1
8-62555416-GA-G	c.790+30del	-	IntronicDeletion	-	10/24	1
8-62555450-G-A	c.787C>T	p.Q263*	Nonsense	10/25	-	6
8-62555453-C-T	c.784G>A	p.E262K	Missense	10/25	-	3
8-62555454-C-T	c.783G>A	p.E261=	Synonymous	10/25	-	1
8-62555455-T-C	c.782A>G	p.E261G	Missense	10/25	-	1
8-62555456-C-A	c.781G>T	p.E261*	Nonsense	10/25	-	1
8-62555460-G-A	c.777C>T	p.V259=	Synonymous	10/25	-	1
8-62555460-G-C	c.777C>G	p.V259=	Synonymous	10/25	-	2
8-62555460-G-T	c.777C>A	p.V259=	Synonymous	10/25	-	1
8-62555465-G-C	c.772C>G	p.Q258E	Missense	10/25	-	2
8-62555466-G-C	c.771C>G	p.Y257*	Nonsense	10/25	-	1
8-62555472-T-G	c.765A>C	p.V255=	Synonymous	10/25	-	1
8-62555474-C-A	c.763G>T	p.V255L	Missense	10/25	-	1
8-62555476-T-A	c.761A>T	p.D254V	Missense	10/25	-	2
8-62555476-T-C	c.761A>G	p.D254G	Missense	10/25	-	1
8-62555477-C-T	c.760G>A	p.D254N	Missense	10/25	-	1
8-62555568-G-A	c.758-89C>T	-	IntronicSNV	-	9/24	1
8-62555944-C-T	c.757+1G>A	-	IntronicSNV	-	9/24	1
8-62555945-CCT-C	c.756_757del	p.D253*	SpliceDonorDeletion	9/25	-	1
8-62555948-T-A	c.754A>T	p.T252S	Missense	9/25	-	1
8-62555948-T-G	c.754A>C	p.T252P	Missense	9/25	-	5
8-62555949-A-G	c.753T>C	p.D251=	Synonymous	9/25	-	1
8-62555951-C-T	c.751G>A	p.D251N	Missense	9/25	-	4
8-62555953-T-A	c.749A>T	p.H250L	Missense	9/25	-	1
8-62555953-T-C	c.749A>G	p.H250R	Missense	9/25	-	1
8-62555961-T-A	c.741A>T	p.R247S	Missense	9/25	-	1
8-62555961-TCT-ACA	c.739_741delinsTGT	p.R247C	Missense	9/25	-	1
8-62555969-C-T	c.733G>A	p.D245N	Missense	9/25	-	8
8-62555970-T-A	c.732A>T	p.E244D	Missense	9/25	-	1
8-62555970-T-G	c.732A>C	p.E244D	Missense	9/25	-	1
8-62555969-C-CT	c.732dup	p.D245Rfs*2	Frameshift	9/25	-	1
8-62555972-C-A	c.730G>T	p.E244*	Nonsense	9/25	-	1
8-62555972-C-T	c.730G>A	p.E244K	Missense	9/25	-	2
8-62555975-C-T	c.727G>A	p.V243I	Missense	9/25	-	5
8-62555978-C-G	c.724G>C	p.V242L	Missense	9/25	-	1
8-62555978-C-T	c.724G>A	p.V242I	Missense	9/25	-	1
8-62555980-G-C	c.722C>G	p.P241R	Missense	9/25	-	1
8-62555982-T-A	c.720A>T	p.E240D	Missense	9/25	-	1
8-62555982-T-G	c.720A>C	p.E240D	Missense	9/25	-	1
8-62555985-A-G	c.717T>C	p.S239=	Synonymous	9/25	-	2
8-62556503-C-A	c.709+1G>T	-	IntronicSNV	-	8/24	1
8-62556507-G-A	c.706C>T	p.P236S	Missense	8/25	-	1
8-62556507-G-C	c.706C>G	p.P236A	Missense	8/25	-	1
8-62556510-T-C	c.703A>G	p.N235D	Missense	8/25	-	1
8-62556513-C-G	c.700G>C	p.E234Q	Missense	8/25	-	1
8-62556518-T-A	c.695A>T	p.E232V	Missense	8/25	-	1
8-62556523-C-A	c.690G>T	p.M230I	Missense	8/25	-	2
8-62556523-C-G	c.690G>C	p.M230I	Missense	8/25	-	1
8-62556523-C-T	c.690G>A	p.M230I	Missense	8/25	-	1
8-62556524-A-C	c.689T>G	p.M230R	Missense	8/25	-	1
8-62556535-C-A	c.678G>T	p.M226I	Missense	8/25	-	1
8-62556535-C-G	c.678G>C	p.M226I	Missense	8/25	-	1
8-62556535-C-T	c.678G>A	p.M226I	Missense	8/25	-	1
8-62556536-A-G	c.677T>C	p.M226T	Missense	8/25	-	1
8-62556537-T-C	c.676A>G	p.M226V	Missense	8/25	-	1
8-62556539-T-G	c.674A>C	p.D225A	Missense	8/25	-	3
8-62556538-ATCCTGAT-A	c.668_674del	p.N223Ifs*5	Frameshift	8/25	-	1
8-62556540-C-CGCT	c.672_673insAGC	p.Q224_D225insS	InFrameInsertion	8/25	-	1
8-62556540-C-T	c.673G>A	p.D225N	Missense	8/25	-	2
8-62556542-T-C	c.671A>G	p.Q224R	Missense	8/25	-	1
8-62556552-C-A	c.661G>T	p.D221Y	Missense	8/25	-	3
8-62556552-C-T	c.661G>A	p.D221N	Missense	8/25	-	1
8-62556553-T-A	c.660A>T	p.Q220H	Missense	8/25	-	1
8-62556553-T-G	c.660A>C	p.Q220H	Missense	8/25	-	1
8-62556553-TTG-CCA	c.658_660delinsTGG	p.Q220W	Missense	8/25	-	1
8-62556554-T-C	c.659A>G	p.Q220R	Missense	8/25	-	1
8-62556555-G-A	c.658C>T	p.Q220*	Nonsense	8/25	-	1
8-62556557-GA-AC	c.655_656delinsGT	p.S219V	Missense	8/25	-	1
8-62556590-C-A	c.653-30G>T	-	IntronicSNV	-	7/24	3
8-62556590-C-T	c.653-30G>A	-	IntronicSNV	-	7/24	3
8-62556992-T-C	c.652+167A>G	-	IntronicSNV	-	7/24	1
8-62557115-G-A	c.652+44C>T	-	IntronicSNV	-	7/24	1
8-62557158-C-T	c.652+1G>A	-	IntronicSNV	-	7/24	1
8-62557163-C-A	c.648G>T	p.E216D	Missense	7/25	-	1
8-62557164-T-C	c.647A>G	p.E216G	Missense	7/25	-	13
8-62557165-C-T	c.646G>A	p.E216K	Missense	7/25	-	1
8-62557168-C-T	c.643G>A	p.E215K	Missense	7/25	-	1
8-62557169-CAC-GAT	c.640_642delinsATC	p.V214I	Missense	7/25	-	2
8-62557169-C-G	c.642G>C	p.V214=	Synonymous	7/25	-	1
8-62557169-C-T	c.642G>A	p.V214=	Synonymous	7/25	-	1
8-62557172-G-A	c.639C>T	p.H213=	Synonymous	7/25	-	2
8-62557175-G-A	c.636C>T	p.Y212=	Synonymous	7/25	-	1
8-62557178-A-G	c.633T>C	p.S211=	Synonymous	7/25	-	1
8-62557181-A-G	c.630T>C	p.H210=	Synonymous	7/25	-	1
8-62557182-T-C	c.629A>G	p.H210R	Missense	7/25	-	1
8-62557183-G-C	c.628C>G	p.H210D	Missense	7/25	-	1
8-62557186-C-A	c.625G>T	p.E209*	Nonsense	7/25	-	1
8-62557186-C-T	c.625G>A	p.E209K	Missense	7/25	-	2
8-62557188-G-A	c.623C>T	p.T208I	Missense	7/25	-	1
8-62557526-C-T	c.620-335G>A	-	IntronicSNV	-	6/24	2
8-62559133-C-T	c.619+176G>A	-	IntronicSNV	-	6/24	1
8-62559305-C-T	c.619+4G>A	-	IntronicSNV	-	6/24	1
8-62559309-C-G	c.619G>C	p.E207Q	Missense	6/25	-	1
8-62559309-C-T	c.619G>A	p.E207K	Missense	6/25	-	1
8-62559310-T-A	c.618A>T	p.E206D	Missense	6/25	-	1
8-62559310-T-G	c.618A>C	p.E206D	Missense	6/25	-	1
8-62559311-T-C	c.617A>G	p.E206G	Missense	6/25	-	1
8-62559311-T-G	c.617A>C	p.E206A	Missense	6/25	-	3
8-62559312-C-T	c.616G>A	p.E206K	Missense	6/25	-	1
8-62559317-G-A	c.611C>T	p.S204F	Missense	6/25	-	3
8-62559317-G-C	c.611C>G	p.S204C	Missense	6/25	-	1
8-62559318-A-G	c.610T>C	p.S204P	Missense	6/25	-	2
8-62559323-T-C	c.605A>G	p.E202G	Missense	6/25	-	11
8-62559324-C-A	c.604G>T	p.E202*	Nonsense	6/25	-	1
8-62559324-C-T	c.604G>A	p.E202K	Missense	6/25	-	2
8-62559326-G-A	c.602C>T	p.P201L	Missense	6/25	-	2
8-62559327-G-A	c.601C>T	p.P201S	Missense	6/25	-	2
8-62559328-T-A	c.600A>T	p.E200D	Missense	6/25	-	1
8-62559328-T-G	c.600A>C	p.E200D	Missense	6/25	-	1
8-62559329-T-C	c.599A>G	p.E200G	Missense	6/25	-	1
8-62559330-C-T	c.598G>A	p.E200K	Missense	6/25	-	4
8-62559333-G-A	c.595C>T	p.L199=	Synonymous	6/25	-	3
8-62559334-G-A	c.594C>T	p.T198=	Synonymous	6/25	-	3
8-62559334-G-C	c.594C>G	p.T198=	Synonymous	6/25	-	1
8-62559334-G-T	c.594C>A	p.T198=	Synonymous	6/25	-	1
8-62559335-G-T	c.593C>A	p.T198N	Missense	6/25	-	1
8-62559337-C-A	c.591G>T	p.E197D	Missense	6/25	-	1
8-62559338-T-A	c.590A>T	p.E197V	Missense	6/25	-	1
8-62559340-A-T	c.588T>A	p.F196L	Missense	6/25	-	1
8-62559344-C-A	c.584G>T	p.R195I	Missense	6/25	-	1
8-62559344-C-G	c.584G>C	p.R195T	Missense	6/25	-	1
8-62559344-C-T	c.584G>A	p.R195K	Missense	6/25	-	4
8-62559347-T-C	c.581A>G	p.D194G	Missense	6/25	-	1
8-62559348-C-A	c.580G>T	p.D194Y	Missense	6/25	-	1
8-62559348-C-T	c.580G>A	p.D194N	Missense	6/25	-	2
8-62559354-C-A	c.574G>T	p.V192L	Missense	6/25	-	3
8-62559354-C-G	c.574G>C	p.V192L	Missense	6/25	-	1
8-62559362-G-A	c.566C>T	p.A189V	Missense	6/25	-	1
8-62559364-C-T	c.564G>A	p.M188I	Missense	6/25	-	2
8-62559365-A-G	c.563T>C	p.M188T	Missense	6/25	-	1
8-62559366-T-C	c.562A>G	p.M188V	Missense	6/25	-	1
8-62559369-G-C	c.559C>G	p.L187V	Missense	6/25	-	2
8-62559373-C-A	c.555G>T	p.E185D	Missense	6/25	-	2
8-62559373-C-G	c.555G>C	p.E185D	Missense	6/25	-	1
8-62559377-TC-CG	c.550_551delinsCG	p.D184R	Missense	6/25	-	1
8-62559377-T-G	c.551A>C	p.D184A	Missense	6/25	-	1
8-62559378-C-G	c.550G>C	p.D184H	Missense	6/25	-	1
8-62559378-C-T	c.550G>A	p.D184N	Missense	6/25	-	1
8-62559381-C-G	c.547G>C	p.D183H	Missense	6/25	-	1
8-62559382-C-A	c.546G>T	p.E182D	Missense	6/25	-	3
8-62559382-C-G	c.546G>C	p.E182D	Missense	6/25	-	1
8-62559382-C-T	c.546G>A	p.E182=	Synonymous	6/25	-	1
8-62559387-G-A	c.541C>T	p.Q181*	Nonsense	6/25	-	1
8-62559388-T-A	c.540A>T	p.Q180H	Missense	6/25	-	1
8-62559388-T-C	c.540A>G	p.Q180=	Synonymous	6/25	-	1
8-62559388-T-G	c.540A>C	p.Q180H	Missense	6/25	-	1
8-62559390-G-A	c.538C>T	p.Q180*	Nonsense	6/25	-	1
8-62559392-G-A	c.536C>T	p.P179L	Missense	6/25	-	1
8-62559392-GG-AT	c.535_536delinsAT	p.P179I	Missense	6/25	-	1
8-62559393-G-A	c.535C>T	p.P179S	Missense	6/25	-	1
8-62559393-G-T	c.535C>A	p.P179T	Missense	6/25	-	1
8-62559396-C-T	c.532G>A	p.E178K	Missense	6/25	-	2
8-62559397-TCC-ACA	c.529_531delinsTGT	p.G177C	Missense	6/25	-	1
8-62559399-C-T	c.529G>A	p.G177R	Missense	6/25	-	3
8-62559400-T-A	c.528A>T	p.T176=	Synonymous	6/25	-	1
8-62559400-T-C	c.528A>G	p.T176=	Synonymous	6/25	-	4
8-62559400-T-G	c.528A>C	p.T176=	Synonymous	6/25	-	1
8-62559401-G-A	c.527C>T	p.T176I	Missense	6/25	-	1
8-62559405-G-GTTC	c.522_523insGAA	p.G174_P175insE	InFrameInsertion	6/25	-	1
8-62559406-GTCC-G	c.520_522del	p.G174del	InFrameDeletion	6/25	-	1
8-62559406-TCC-GCT	c.520_522delinsAGC	p.G174S	Missense	6/25	-	1
8-62559409-ATC-TTA	c.517_519delinsTAA	p.D173*	Nonsense	6/25	-	1
8-62559410-AT-A	c.518del	p.D173Vfs*20	Frameshift	6/25	-	3
8-62559410-T-A	c.518A>T	p.D173V	Missense	6/25	-	1
8-62559410-T-C	c.518A>G	p.D173G	Missense	6/25	-	3
8-62559410-T-G	c.518A>C	p.D173A	Missense	6/25	-	1
8-62559411-C-G	c.517G>C	p.D173H	Missense	6/25	-	2
8-62559412-T-A	c.516A>T	p.E172D	Missense	6/25	-	1
8-62559412-T-G	c.516A>C	p.E172D	Missense	6/25	-	2
8-62559413-T-C	c.515A>G	p.E172G	Missense	6/25	-	1
8-62559412-T-TTCA	c.515_516insTGA	p.Q171_E172insD	InFrameInsertion	6/25	-	1
8-62559414-C-T	c.514G>A	p.E172K	Missense	6/25	-	2
8-62559417-G-A	c.511C>T	p.Q171*	Nonsense	6/25	-	2
8-62559419-T-C	c.509A>G	p.Q170R	Missense	6/25	-	1
8-62559426-C-A	c.502G>T	p.D168Y	Missense	6/25	-	1
8-62559429-C-T	c.499G>A	p.E167K	Missense	6/25	-	1
8-62559430-T-C	c.498A>G	p.G166=	Synonymous	6/25	-	1
8-62559432-C-A	c.496G>T	p.G166*	Nonsense	6/25	-	1
8-62559433-C-T	c.495G>A	p.E165=	Synonymous	6/25	-	2
8-62559435-C-T	c.493G>A	p.E165K	Missense	6/25	-	1
8-62559439-T-G	c.491-2A>C	-	IntronicSNV	-	5/24	1
8-62563583-A-G	c.490+26T>C	-	IntronicSNV	-	5/24	1
8-62563607-A-G	c.490+2T>C	-	IntronicSNV	-	5/24	1
8-62563613-T-C	c.486A>G	p.E162=	Synonymous	5/25	-	2
8-62563618-C-A	c.481G>T	p.A161S	Missense	5/25	-	1
8-62563618-C-T	c.481G>A	p.A161T	Missense	5/25	-	5
8-62563619-G-A	c.480C>T	p.H160=	Synonymous	5/25	-	1
8-62563624-C-A	c.475G>T	p.V159L	Missense	5/25	-	2
8-62563624-C-G	c.475G>C	p.V159L	Missense	5/25	-	1
8-62563624-C-T	c.475G>A	p.V159I	Missense	5/25	-	3
8-62563627-T-C	c.472A>G	p.M158V	Missense	5/25	-	1
8-62563630-C-T	c.469G>A	p.E157K	Missense	5/25	-	2
8-62563634-G-A	c.465C>T	p.L155=	Synonymous	5/25	-	1
8-62563634-G-C	c.465C>G	p.L155=	Synonymous	5/25	-	1
8-62563634-G-T	c.465C>A	p.L155=	Synonymous	5/25	-	1
8-62563641-G-C	c.458C>G	p.S153C	Missense	5/25	-	7
8-62563642-A-C	c.457T>G	p.S153A	Missense	5/25	-	1
8-62563644-T-C	c.455A>G	p.Q152R	Missense	5/25	-	1
8-62563645-G-A	c.454C>T	p.Q152*	Nonsense	5/25	-	1
8-62563645-G-C	c.454C>G	p.Q152E	Missense	5/25	-	1
8-62563648-T-C	c.451A>G	p.I151V	Missense	5/25	-	1
8-62563650-T-C	c.449A>G	p.Q150R	Missense	5/25	-	1
8-62563651-G-C	c.448C>G	p.Q150E	Missense	5/25	-	1
8-62563653-T-G	c.446A>C	p.E149A	Missense	5/25	-	1
8-62563654-C-A	c.445G>T	p.E149*	Nonsense	5/25	-	1
8-62563654-C-G	c.445G>C	p.E149Q	Missense	5/25	-	1
8-62563658-T-C	c.441A>G	p.A147=	Synonymous	5/25	-	2
8-62563659-G-A	c.440C>T	p.A147V	Missense	5/25	-	3
8-62563660-C-A	c.439G>T	p.A147S	Missense	5/25	-	1
8-62563660-C-T	c.439G>A	p.A147T	Missense	5/25	-	1
8-62563668-T-C	c.431A>G	p.E144G	Missense	5/25	-	2
8-62563669-C-T	c.430G>A	p.E144K	Missense	5/25	-	6
8-62563670-G-A	c.429C>T	p.I143=	Synonymous	5/25	-	1
8-62563676-C-A	c.423G>T	p.Q141H	Missense	5/25	-	4
8-62563676-C-G	c.423G>C	p.Q141H	Missense	5/25	-	2
8-62563677-T-C	c.422A>G	p.Q141R	Missense	5/25	-	1
8-62563677-T-G	c.422A>C	p.Q141P	Missense	5/25	-	1
8-62563680-G-A	c.419C>T	p.P140L	Missense	5/25	-	2
8-62563680-G-C	c.419C>G	p.P140R	Missense	5/25	-	1
8-62563680-G-T	c.419C>A	p.P140H	Missense	5/25	-	1
8-62563681-G-T	c.418C>A	p.P140T	Missense	5/25	-	1
8-62563718-G-C	c.416-35C>G	-	IntronicSNV	-	4/24	4
8-62563718-G-T	c.416-35C>A	-	IntronicSNV	-	4/24	4
8-62563764-A-G	c.416-81T>C	-	IntronicSNV	-	4/24	4
8-62566127-C-T	c.415G>A	p.E139K	Missense	4/25	-	1
8-62566130-C-T	c.412G>A	p.A138T	Missense	4/25	-	1
8-62566132-T-C	c.410A>G	p.E137G	Missense	4/25	-	2
8-62566132-T-G	c.410A>C	p.E137A	Missense	4/25	-	1
8-62566133-C-T	c.409G>A	p.E137K	Missense	4/25	-	1
8-62566138-G-A	c.404C>T	p.P135L	Missense	4/25	-	1
8-62566141-A-G	c.401T>C	p.V134A	Missense	4/25	-	1
8-62566142-C-A	c.400G>T	p.V134F	Missense	4/25	-	2
8-62566143-C-A	c.399G>T	p.Q133H	Missense	4/25	-	1
8-62566144-T-C	c.398A>G	p.Q133R	Missense	4/25	-	2
8-62566145-G-A	c.397C>T	p.Q133*	Nonsense	4/25	-	2
8-62566146-C-T	c.396G>A	p.E132=	Synonymous	4/25	-	1
8-62566148-C-T	c.394G>A	p.E132K	Missense	4/25	-	1
8-62566151-C-T	c.391G>A	p.E131K	Missense	4/25	-	3
8-62566152-G-A	c.390C>T	p.P130=	Synonymous	4/25	-	5
8-62566152-G-C	c.390C>G	p.P130=	Synonymous	4/25	-	2
8-62566152-G-T	c.390C>A	p.P130=	Synonymous	4/25	-	1
8-62566159-G-A	c.383C>T	p.T128I	Missense	4/25	-	2
8-62566158-AGTGT-A	c.380_383del	p.H127Lfs*65	Frameshift	4/25	-	3
8-62566165-G-A	c.377C>T	p.P126L	Missense	4/25	-	3
8-62566167-C-A	c.375G>T	p.E125D	Missense	4/25	-	1
8-62566167-C-G	c.375G>C	p.E125D	Missense	4/25	-	1
8-62566177-T-C	c.365A>G	p.E122G	Missense	4/25	-	1
8-62566177-T-G	c.365A>C	p.E122A	Missense	4/25	-	1
8-62566183-G-A	c.359C>T	p.P120L	Missense	4/25	-	2
8-62566184-G-A	c.358C>T	p.P120S	Missense	4/25	-	2
8-62566189-G-C	c.353C>G	p.A118G	Missense	4/25	-	1
8-62566190-C-T	c.352G>A	p.A118T	Missense	4/25	-	1
8-62566195-T-C	c.347A>G	p.E116G	Missense	4/25	-	1
8-62566196-C-G	c.346G>C	p.E116Q	Missense	4/25	-	2
8-62566201-G-A	c.341C>T	p.T114I	Missense	4/25	-	1
8-62566204-G-C	c.338C>G	p.S113C	Missense	4/25	-	2
8-62566209-CTCTT-C	c.329_332del	p.K110Rfs*82	Frameshift	4/25	-	1
8-62566211-C-T	c.331G>A	p.E111K	Missense	4/25	-	4
8-62566212-T-C	c.330A>G	p.K110=	Synonymous	4/25	-	1
8-62566216-A-T	c.326T>A	p.L109H	Missense	4/25	-	1
8-62566832-G-T	c.323-613C>A	-	IntronicSNV	-	3/24	2
8-62574469-T-C	c.323-8250A>G	-	IntronicSNV	-	3/24	1
8-62574482-T-G	c.323-8263A>C	-	IntronicSNV	-	3/24	1
8-62576242-G-A	c.323-10023C>T	-	IntronicSNV	-	3/24	3
8-62576242-G-C	c.323-10023C>G	-	IntronicSNV	-	3/24	3
8-62576669-A-G	c.323-10450T>C	-	IntronicSNV	-	3/24	1
8-62576976-T-A	c.323-10757A>T	-	IntronicSNV	-	3/24	3
8-62576976-T-C	c.323-10757A>G	-	IntronicSNV	-	3/24	3
8-62577222-A-AG	c.323-11004dup	-	IntronicInsertion	-	3/24	1
8-62577826-T-A	c.323-11607A>T	-	IntronicSNV	-	3/24	1
8-62577826-T-C	c.323-11607A>G	-	IntronicSNV	-	3/24	1
8-62577838-T-C	c.323-11619A>G	-	IntronicSNV	-	3/24	4
8-62577842-T-A	c.323-11623A>T	-	IntronicSNV	-	3/24	1
8-62577847-T-C	c.323-11628A>G	-	IntronicSNV	-	3/24	1
8-62577850-G-A	c.323-11631C>T	-	IntronicSNV	-	3/24	1
8-62577862-G-A	c.323-11643C>T	-	IntronicSNV	-	3/24	1
8-62577892-T-C	c.323-11673A>G	-	IntronicSNV	-	3/24	1
8-62577895-C-T	c.323-11676G>A	-	IntronicSNV	-	3/24	1
8-62577901-G-C	c.323-11682C>G	-	IntronicSNV	-	3/24	1
8-62577964-C-T	c.323-11745G>A	-	IntronicSNV	-	3/24	1
8-62577974-G-C	c.323-11755C>G	-	IntronicSNV	-	3/24	1
8-62577998-C-G	c.323-11779G>C	-	IntronicSNV	-	3/24	1
8-62578016-A-G	c.323-11797T>C	-	IntronicSNV	-	3/24	1
8-62578078-C-A	c.323-11859G>T	-	IntronicSNV	-	3/24	1
8-62578078-C-T	c.323-11859G>A	-	IntronicSNV	-	3/24	1
8-62578095-A-T	c.323-11876T>A	-	IntronicSNV	-	3/24	1
8-62578115-A-G	c.323-11896T>C	-	IntronicSNV	-	3/24	1
8-62580802-T-C	c.322+12725A>G	-	IntronicSNV	-	3/24	1
8-62580804-G-A	c.322+12723C>T	-	IntronicSNV	-	3/24	1
8-62580816-G-GGTC	c.322+12710_322+12711insGAC	-	IntronicInsertion	-	3/24	1
8-62580817-C-G	c.322+12710G>C	-	IntronicSNV	-	3/24	1
8-62580819-A-C	c.322+12708T>G	-	IntronicSNV	-	3/24	3
8-62580819-A-T	c.322+12708T>A	-	IntronicSNV	-	3/24	2
8-62580820-C-A	c.322+12707G>T	-	IntronicSNV	-	3/24	1
8-62580820-C-CTGGGA	c.322+12706_322+12707insTCCCA	-	IntronicInsertion	-	3/24	1
8-62580820-C-CTTCTGGGA	c.322+12706_322+12707insTCCCAGAA	-	IntronicInsertion	-	3/24	1
8-62580820-C-T	c.322+12707G>A	-	IntronicSNV	-	3/24	1
8-62580825-C-T	c.322+12702G>A	-	IntronicSNV	-	3/24	1
8-62580828-G-A	c.322+12699C>T	-	IntronicSNV	-	3/24	1
8-62580835-C-T	c.322+12692G>A	-	IntronicSNV	-	3/24	1
8-62580842-C-T	c.322+12685G>A	-	IntronicSNV	-	3/24	1
8-62582793-A-T	c.322+10734T>A	-	IntronicSNV	-	3/24	1
8-62582794-T-A	c.322+10733A>T	-	IntronicSNV	-	3/24	1
8-62582794-T-C	c.322+10733A>G	-	IntronicSNV	-	3/24	1
8-62582793-AT-A	c.322+10733del	-	IntronicDeletion	-	3/24	1
8-62584995-A-G	c.322+8532T>C	-	IntronicSNV	-	3/24	2
8-62588518-G-A	c.322+5009C>T	-	IntronicSNV	-	3/24	1
8-62588651-C-T	c.322+4876G>A	-	IntronicSNV	-	3/24	1
8-62588692-G-A	c.322+4835C>T	-	IntronicSNV	-	3/24	1
8-62588698-C-T	c.322+4829G>A	-	IntronicSNV	-	3/24	1
8-62588716-G-A	c.322+4811C>T	-	IntronicSNV	-	3/24	1
8-62588730-T-A	c.322+4797A>T	-	IntronicSNV	-	3/24	1
8-62588762-T-C	c.322+4765A>G	-	IntronicSNV	-	3/24	1
8-62588765-T-C	c.322+4762A>G	-	IntronicSNV	-	3/24	1
8-62588813-C-T	c.322+4714G>A	-	IntronicSNV	-	3/24	1
8-62588818-A-G	c.322+4709T>C	-	IntronicSNV	-	3/24	1
8-62588819-A-C	c.322+4708T>G	-	IntronicSNV	-	3/24	1
8-62588831-C-T	c.322+4696G>A	-	IntronicSNV	-	3/24	1
8-62588833-T-C	c.322+4694A>G	-	IntronicSNV	-	3/24	1
8-62588858-T-C	c.322+4669A>G	-	IntronicSNV	-	3/24	1
8-62588879-C-G	c.322+4648G>C	-	IntronicSNV	-	3/24	1
8-62593329-T-C	c.322+198A>G	-	IntronicSNV	-	3/24	1
8-62593527-C-T	c.322G>A	p.G108R	Missense	3/25	-	1
8-62593528-T-A	c.321A>T	p.L107F	Missense	3/25	-	1
8-62593528-T-G	c.321A>C	p.L107F	Missense	3/25	-	1
8-62593529-AA-GG	c.319_320delinsCC	p.L107P	Missense	3/25	-	1
8-62593536-C-A	c.313G>T	p.V105F	Missense	3/25	-	1
8-62593538-T-C	c.311A>G	p.K104R	Missense	3/25	-	1
8-62593543-ATC-CTT	c.304_306delinsAAG	p.D102K	Missense	3/25	-	1
8-62593545-C-T	c.304G>A	p.D102N	Missense	3/25	-	2
8-62593548-C-A	c.301G>T	p.D101Y	Missense	3/25	-	1
8-62593548-C-T	c.301G>A	p.D101N	Missense	3/25	-	1
8-62593548-C-CCGT	c.300_301insACG	p.V100_D101insT	InFrameInsertion	3/25	-	1
8-62593549-CAC-ACA	c.298_300delinsTGT	p.V100C	Missense	3/25	-	1
8-62593549-CAC-GAT	c.298_300delinsATC	p.V100I	Missense	3/25	-	1
8-62593550-A-AGTC	c.298_299insGAC	p.V100delinsGL	MultiAAMissense	3/25	-	1
8-62593550-A-ACGT	c.298_299insACG	p.D99dup	InFrameInsertion	3/25	-	1
8-62593554-C-A	c.295G>T	p.D99Y	Missense	3/25	-	1
8-62593554-C-CTGGGA	c.294_295insTCCCA	p.D99Sfs*11	Frameshift	3/25	-	1
8-62593554-C-CTTCTGGGA	c.294_295insTCCCAGAA	p.D99Sfs*12	Frameshift	3/25	-	1
8-62593560-C-A	c.289G>T	p.D97Y	Missense	3/25	-	1
8-62593567-A-C	c.282T>G	p.G94=	Synonymous	3/25	-	2
8-62593568-C-T	c.281G>A	p.G94D	Missense	3/25	-	1
8-62593569-C-G	c.280G>C	p.G94R	Missense	3/25	-	1
8-62593574-G-A	c.275C>T	p.A92V	Missense	3/25	-	1
8-62593574-G-T	c.275C>A	p.A92D	Missense	3/25	-	1
8-62593577-TC-CT	c.271_272delinsAG	p.D91S	Missense	3/25	-	1
8-62593577-T-G	c.272A>C	p.D91A	Missense	3/25	-	1
8-62593580-T-C	c.269A>G	p.Y90C	Missense	3/25	-	3
8-62593582-G-A	c.267C>T	p.I89=	Synonymous	3/25	-	1
8-62593582-G-T	c.267C>A	p.I89=	Synonymous	3/25	-	1
8-62593583-A-G	c.266T>C	p.I89T	Missense	3/25	-	2
8-62593587-C-A	c.262G>T	p.G88*	Nonsense	3/25	-	1
8-62593594-T-A	c.255A>T	p.G85=	Synonymous	3/25	-	1
8-62593594-T-C	c.255A>G	p.G85=	Synonymous	3/25	-	1
8-62593594-T-G	c.255A>C	p.G85=	Synonymous	3/25	-	1
8-62593594-T-TGTC	c.254_255insGAC	p.G85_K86insT	SpliceAcceptorInsertion	3/25	-	1
8-62593596-C-T	c.254-1G>A	-	IntronicSNV	-	2/24	3
8-62593615-A-G	c.254-20T>C	-	IntronicSNV	-	2/24	1
8-62593664-T-A	c.254-69A>T	-	IntronicSNV	-	2/24	1
8-62593664-T-G	c.254-69A>C	-	IntronicSNV	-	2/24	1
8-62593813-G-T	c.254-218C>A	-	IntronicSNV	-	2/24	1
8-62594996-A-G	c.254-1401T>C	-	IntronicSNV	-	2/24	1
8-62595010-C-CT	c.254-1416dup	-	IntronicInsertion	-	2/24	1
8-62595025-G-A	c.254-1430C>T	-	IntronicSNV	-	2/24	2
8-62595034-T-C	c.254-1439A>G	-	IntronicSNV	-	2/24	1
8-62595053-G-A	c.254-1458C>T	-	IntronicSNV	-	2/24	1
8-62595068-C-T	c.254-1473G>A	-	IntronicSNV	-	2/24	8
8-62596596-A-G	c.253+2T>C	-	IntronicSNV	-	2/24	1
8-62596596-A-ACGT	c.253+1_253+2insACG	-	SpliceDonorInsertion	-	-	1
8-62596598-C-A	c.253G>T	p.G85*	Nonsense	2/25	-	1
8-62596598-C-G	c.253G>C	p.G85R	Missense	2/25	-	1
8-62596598-C-T	c.253G>A	p.G85R	Missense	2/25	-	1
8-62596601-G-A	c.250C>T	p.L84=	Synonymous	2/25	-	1
8-62596601-G-GTGGGA	c.249_250insTCCCA	p.L84Sfs*3	Frameshift	2/25	-	2
8-62596603-A-G	c.248T>C	p.V83A	Missense	2/25	-	4
8-62596604-C-A	c.247G>T	p.V83F	Missense	2/25	-	1
8-62596604-C-T	c.247G>A	p.V83I	Missense	2/25	-	1
8-62596610-C-G	c.241G>C	p.E81Q	Missense	2/25	-	1
8-62596612-T-C	c.239A>G	p.Y80C	Missense	2/25	-	4
8-62596613-A-G	c.238T>C	p.Y80H	Missense	2/25	-	1
8-62596616-C-A	c.235G>T	p.D79Y	Missense	2/25	-	2
8-62596616-C-T	c.235G>A	p.D79N	Missense	2/25	-	1
8-62596617-A-G	c.234T>C	p.V78=	Synonymous	2/25	-	1
8-62596615-TCAA-T	c.233_235del	p.V78del	InFrameDeletion	2/25	-	1
8-62596621-A-G	c.230T>C	p.L77P	Missense	2/25	-	1
8-62596622-G-A	c.229C>T	p.L77F	Missense	2/25	-	2
8-62596622-G-C	c.229C>G	p.L77V	Missense	2/25	-	2
8-62596622-G-T	c.229C>A	p.L77I	Missense	2/25	-	1
8-62596626-A-G	c.225T>C	p.F75=	Synonymous	2/25	-	1
8-62596627-A-G	c.224T>C	p.F75S	Missense	2/25	-	1
8-62596632-A-C	c.219T>G	p.V73=	Synonymous	2/25	-	1
8-62596632-A-G	c.219T>C	p.V73=	Synonymous	2/25	-	1
8-62596632-A-T	c.219T>A	p.V73=	Synonymous	2/25	-	1
8-62596634-C-T	c.217G>A	p.V73I	Missense	2/25	-	4
8-62596639-G-C	c.212C>G	p.A71G	Missense	2/25	-	1
8-62596641-T-A	c.210A>T	p.V70=	Synonymous	2/25	-	1
8-62596641-T-C	c.210A>G	p.V70=	Synonymous	2/25	-	1
8-62596641-T-G	c.210A>C	p.V70=	Synonymous	2/25	-	1
8-62596644-AG-TT	c.206_207delinsAA	p.S69*	Nonsense	2/25	-	1
8-62596645-G-A	c.206C>T	p.S69F	Missense	2/25	-	1
8-62596647-T-A	c.204A>T	p.T68=	Synonymous	2/25	-	1
8-62596647-T-C	c.204A>G	p.T68=	Synonymous	2/25	-	1
8-62596647-T-G	c.204A>C	p.T68=	Synonymous	2/25	-	1
8-62596651-C-T	c.200G>A	p.W67*	Nonsense	2/25	-	1
8-62596654-A-G	c.197T>C	p.V66A	Missense	2/25	-	1
8-62596658-C-G	c.193G>C	p.G65R	Missense	2/25	-	1
8-62596661-G-C	c.190C>G	p.L64V	Missense	2/25	-	2
8-62596665-TGC-ACA	c.184_186delinsTGT	p.A62C	Missense	2/25	-	1
8-62596667-C-A	c.184G>T	p.A62S	Missense	2/25	-	1
8-62596669-A-T	c.182T>A	p.I61N	Missense	2/25	-	1
8-62596672-A-C	c.179T>G	p.V60G	Missense	2/25	-	1
8-62596672-A-G	c.179T>C	p.V60A	Missense	2/25	-	1
8-62596673-C-G	c.178G>C	p.V60L	Missense	2/25	-	1
8-62596673-C-T	c.178G>A	p.V60M	Missense	2/25	-	1
8-62596678-A-C	c.173T>G	p.F58C	Missense	2/25	-	1
8-62596680-C-T	c.171G>A	p.W57*	Nonsense	2/25	-	1
8-62596684-G-A	c.167C>T	p.T56M	Missense	2/25	-	1
8-62596685-T-C	c.166A>G	p.T56A	Missense	2/25	-	1
8-62596686-G-A	c.165C>T	p.F55=	Synonymous	2/25	-	1
8-62596688-A-G	c.163T>C	p.F55L	Missense	2/25	-	1
8-62596690-A-G	c.161T>C	p.F54S	Missense	2/25	-	2
8-62596692-T-C	c.159A>G	p.S53=	Synonymous	2/25	-	1
8-62596692-TG-AC	c.158_159delinsGT	p.S53C	Missense	2/25	-	1
8-62596696-G-C	c.155C>G	p.T52S	Missense	2/25	-	2
8-62596697-T-A	c.154A>T	p.T52S	Missense	2/25	-	2
8-62596700-C-T	c.151G>A	p.G51R	Missense	2/25	-	1
8-62596702-G-A	c.149C>T	p.S50L	Missense	2/25	-	1
8-62596702-GA-CT	c.148_149delinsAG	p.S50R	Missense	2/25	-	1
8-62596704-G-A	c.147C>T	p.L49=	Synonymous	2/25	-	1
8-62596704-G-C	c.147C>G	p.L49=	Synonymous	2/25	-	1
8-62596704-G-T	c.147C>A	p.L49=	Synonymous	2/25	-	1
8-62596707-GT-G	c.144del	p.L49Sfs*12	Frameshift	2/25	-	1
8-62596709-C-G	c.142G>C	p.G48R	Missense	2/25	-	2
8-62596709-C-T	c.142G>A	p.G48R	Missense	2/25	-	6
8-62596711-C-T	c.140G>A	p.G47D	Missense	2/25	-	1
8-62596716-CCT-ACA	c.133_135delinsTGT	p.R45C	Missense	2/25	-	1
8-62596717-C-T	c.134G>A	p.R45K	Missense	2/25	-	1
8-62596720-CC-TG	c.130_131delinsCA	p.G44Q	Missense	2/25	-	1
8-62596720-C-T	c.131G>A	p.G44E	Missense	2/25	-	1
8-62596728-GTG-TTA	c.121_123delinsTAA	p.H41*	Nonsense	2/25	-	1
8-62596730-G-A	c.121C>T	p.H41Y	Missense	2/25	-	1
8-62596730-TG-T	c.121del	p.H41Tfs*20	Frameshift	2/25	-	1
8-62596731-T-G	c.120A>C	p.G40=	Synonymous	2/25	-	1
8-62596734-TC-GT	c.116_117delinsAC	p.G39D	Missense	2/25	-	1
8-62596737-ATG-TTA	c.112_114delinsTAA	p.H38*	Nonsense	2/25	-	1
8-62596741-T-C	c.110A>G	p.K37R	Missense	2/25	-	1
8-62596741-TT-GC	c.109_110delinsGC	p.K37A	Missense	2/25	-	1
8-62596743-T-A	c.108A>T	p.T36=	Synonymous	2/25	-	1
8-62596742-TTG-T	c.107_108del	p.T36Kfs*40	Frameshift	2/25	-	1
8-62596744-TG-T	c.107del	p.T36Kfs*25	Frameshift	2/25	-	1
8-62602231-C-G	c.104-5484G>C	-	IntronicSNV	-	1/24	1
8-62602231-C-T	c.104-5484G>A	-	IntronicSNV	-	1/24	1
8-62602241-C-T	c.104-5494G>A	-	IntronicSNV	-	1/24	1
8-62602369-C-A	c.104-5622G>T	-	IntronicSNV	-	1/24	1
8-62602371-G-A	c.104-5624C>T	-	IntronicSNV	-	1/24	1
8-62603609-C-T	c.104-6862G>A	-	IntronicSNV	-	1/24	1
8-62605259-C-T	c.104-8512G>A	-	IntronicSNV	-	1/24	1
8-62609231-G-A	c.104-12484C>T	-	IntronicSNV	-	1/24	1
8-62609231-G-C	c.104-12484C>G	-	IntronicSNV	-	1/24	1
8-62614699-C-G	c.103+12129G>C	-	IntronicSNV	-	1/24	1
8-62620839-C-T	c.103+5989G>A	-	IntronicSNV	-	1/24	2
8-62626828-C-A	c.103G>T	p.E35*	Nonsense	1/25	-	1
8-62626830-C-T	c.101G>A	p.R34K	Missense	1/25	-	1
8-62626830-CT-TG	c.100_101delinsCA	p.R34Q	Missense	1/25	-	1
8-62626834-G-A	c.97C>T	p.R33W	Missense	1/25	-	1
8-62626836-G-A	c.95C>T	p.A32V	Missense	1/25	-	1
8-62626836-G-C	c.95C>G	p.A32G	Missense	1/25	-	2
8-62626836-G-T	c.95C>A	p.A32D	Missense	1/25	-	1
8-62626837-C-G	c.94G>C	p.A32P	Missense	1/25	-	1
8-62626837-C-T	c.94G>A	p.A32T	Missense	1/25	-	1
8-62626839-C-A	c.92G>T	p.G31V	Missense	1/25	-	1
8-62626843-G-C	c.88C>G	p.P30A	Missense	1/25	-	1
8-62626844-G-A	c.87C>T	p.S29=	Synonymous	1/25	-	1
8-62626845-C-T	c.86G>A	p.S29N	Missense	1/25	-	1
8-62626847-G-A	c.84C>T	p.S28=	Synonymous	1/25	-	3
8-62626848-CT-AA	c.82_83delinsTT	p.S28F	Missense	1/25	-	1
8-62626848-CT-AG	c.82_83inv	p.S28L	Missense	1/25	-	1
8-62626848-CT-GC	c.82_83delinsGC	p.S28A	Missense	1/25	-	2
8-62626849-T-A	c.82A>T	p.S28C	Missense	1/25	-	1
8-62626850-G-C	c.81C>G	p.S27R	Missense	1/25	-	2
8-62626850-G-T	c.81C>A	p.S27R	Missense	1/25	-	1
8-62626852-T-G	c.79A>C	p.S27R	Missense	1/25	-	1
8-62626851-CT-GC	c.79_80delinsGC	p.S27A	Missense	1/25	-	2
8-62626852-T-A	c.79A>T	p.S27C	Missense	1/25	-	1
8-62626854-CC-TA	c.76_77delinsTA	p.G26Y	Missense	1/25	-	1
8-62626856-CG-GT	c.74_75delinsAC	p.A25D	Missense	1/25	-	1
8-62626859-ACT-CTC	c.70_72delinsGAG	p.S24E	Missense	1/25	-	1
8-62626860-C-T	c.71G>A	p.S24N	Missense	1/25	-	1
8-62626860-CT-GC	c.70_71delinsGC	p.S24A	Missense	1/25	-	2
8-62626862-C-A	c.69G>T	p.T23=	Synonymous	1/25	-	2
8-62626862-C-G	c.69G>C	p.T23=	Synonymous	1/25	-	1
8-62626862-C-T	c.69G>A	p.T23=	Synonymous	1/25	-	1
8-62626865-G-A	c.66C>T	p.S22=	Synonymous	1/25	-	1
8-62626866-C-G	c.65G>C	p.S22T	Missense	1/25	-	1
8-62626872-C-G	c.59G>C	p.S20T	Missense	1/25	-	1
8-62626872-CT-GG	c.58_59delinsCC	p.S20P	Missense	1/25	-	1
8-62626874-GC-CT	c.56_57delinsAG	p.G19E	Missense	1/25	-	1
8-62626875-C-G	c.56G>C	p.G19A	Missense	1/25	-	2
8-62626875-C-T	c.56G>A	p.G19D	Missense	1/25	-	1
8-62626881-C-A	c.50G>T	p.G17V	Missense	1/25	-	1
8-62626881-C-T	c.50G>A	p.G17D	Missense	1/25	-	1
8-62626883-G-A	c.48C>T	p.S16=	Synonymous	1/25	-	1
8-62626884-CT-GC	c.46_47delinsGC	p.S16A	Missense	1/25	-	2
8-62626886-G-A	c.45C>T	p.S15=	Synonymous	1/25	-	1
8-62626886-G-T	c.45C>A	p.S15R	Missense	1/25	-	1
8-62626887-C-T	c.44G>A	p.S15N	Missense	1/25	-	2
8-62626887-CT-GC	c.43_44delinsGC	p.S15A	Missense	1/25	-	5
8-62626889-G-A	c.42C>T	p.S14=	Synonymous	1/25	-	2
8-62626889-GCT-CTC	c.40_42delinsGAG	p.S14E	Missense	1/25	-	2
8-62626890-CT-AA	c.40_41delinsTT	p.S14F	Missense	1/25	-	1
8-62626890-CT-GC	c.40_41delinsGC	p.S14A	Missense	1/25	-	4
8-62626890-CT-GG	c.40_41delinsCC	p.S14P	Missense	1/25	-	1
8-62626890-CT-TC	c.40_41delinsGA	p.S14D	Missense	1/25	-	2
8-62626891-T-A	c.40A>T	p.S14C	Missense	1/25	-	2
8-62626892-GCT-CTC	c.37_39delinsGAG	p.S13E	Missense	1/25	-	1
8-62626893-CT-GC	c.37_38delinsGC	p.S13A	Missense	1/25	-	5
8-62626893-CT-TC	c.37_38delinsGA	p.S13D	Missense	1/25	-	1
8-62626894-T-A	c.37A>T	p.S13C	Missense	1/25	-	2
8-62626897-T-C	c.34A>G	p.N12D	Missense	1/25	-	1
8-62626899-C-T	c.32G>A	p.G11D	Missense	1/25	-	1
8-62626900-C-T	c.31G>A	p.G11S	Missense	1/25	-	1
8-62626901-GCT-CTC	c.28_30delinsGAG	p.S10E	Missense	1/25	-	1
8-62626902-CT-GC	c.28_29delinsGC	p.S10A	Missense	1/25	-	6
8-62626902-CT-GG	c.28_29delinsCC	p.S10P	Missense	1/25	-	3
8-62626902-CT-TC	c.28_29delinsGA	p.S10D	Missense	1/25	-	3
8-62626903-T-A	c.28A>T	p.S10C	Missense	1/25	-	5
8-62626905-CT-TA	c.25_26delinsTA	p.S9Y	Missense	1/25	-	1
8-62626907-CTT-GTC	c.22_24delinsGAC	p.K8D	Missense	1/25	-	1
8-62626907-CT-C	c.23del	p.K8Rfs*53	Frameshift	1/25	-	1
8-62626911-G-A	c.20C>T	p.A7V	Missense	1/25	-	1
8-62626912-C-G	c.19G>C	p.A7P	Missense	1/25	-	1
8-62626913-ATT-CCA	c.16_18delinsTGG	p.N6W	Missense	1/25	-	1
8-62626915-T-G	c.16A>C	p.N6H	Missense	1/25	-	1
8-62626916-CTT-AAA	c.13_15delinsTTT	p.K5F	Missense	1/25	-	1
8-62626917-T-C	c.14A>G	p.K5R	Missense	1/25	-	1
8-62626918-T-C	c.13A>G	p.K5E	Missense	1/25	-	1
8-62626920-AC-A	c.11del	p.R4Lfs*57	Frameshift	1/25	-	1
8-62626922-CTG-ACA	c.7_9delinsTGT	p.Q3C	Missense	1/25	-	1
8-62626923-T-G	c.8A>C	p.Q3P	Missense	1/25	-	1
8-62626923-TG-CC	c.7_8delinsGG	p.Q3G	Missense	1/25	-	1
8-62626923-TG-GC	c.7_8delinsGC	p.Q3A	Missense	1/25	-	1
8-62626930-T-C	c.1A>G	p.M1?	Missense	1/25	-	1
8-62626962-C-G	c.-32G>C	-	5-UTRSNV	1/25	-	13
8-62626962-C-T	c.-32G>A	-	5-UTRSNV	1/25	-	13
8-62627004-A-G	c.-74T>C	-	5-UTRSNV	1/25	-	11
8-62627107-C-G	c.-177G>C	-	5-UTRSNV	1/25	-	1