UBA1

UBA1 ubiquitin like modifier activating enzyme 1

Annotation transcript: NM_003334.4

1152 unique variant annotations were identified in 582 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
X-47057647-A-G	c.1-555A>G	-	IntronicSNV	-	1/25	11
X-47057647-A-T	c.1-555A>T	-	IntronicSNV	-	1/25	11
X-47058210-C-T	c.9C>T	p.S3=	Synonymous	2/26	-	1
X-47058213-G-A	c.12G>A	p.S4=	Synonymous	2/26	-	1
X-47058213-G-C	c.12G>C	p.S4=	Synonymous	2/26	-	1
X-47058213-G-T	c.12G>T	p.S4=	Synonymous	2/26	-	1
X-47058216-G-A	c.15G>A	p.P5=	Synonymous	2/26	-	3
X-47058216-G-C	c.15G>C	p.P5=	Synonymous	2/26	-	1
X-47058216-G-T	c.15G>T	p.P5=	Synonymous	2/26	-	1
X-47058222-C-G	c.21C>G	p.S7=	Synonymous	2/26	-	1
X-47058227-A-G	c.26A>G	p.K9R	Missense	2/26	-	1
X-47058228-A-C	c.27A>C	p.K9N	Missense	2/26	-	1
X-47058229-C-G	c.28C>G	p.R10G	Missense	2/26	-	1
X-47058229-CG-GC	c.28_29delinsGC	p.R10A	Missense	2/26	-	1
X-47058229-C-T	c.28C>T	p.R10C	Missense	2/26	-	1
X-47058232-C-T	c.31C>T	p.R11C	Missense	2/26	-	1
X-47058235-G-T	c.34G>T	p.V12L	Missense	2/26	-	1
X-47058235-GTG-TTT	c.34_36delinsTTT	p.V12F	Missense	2/26	-	1
X-47058238-TC-AT	c.37_38delinsAT	p.S13I	Missense	2/26	-	1
X-47058238-TCC-GAG	c.37_39delinsGAG	p.S13E	Missense	2/26	-	1
X-47058238-TC-GG	c.37_38delinsGG	p.S13G	Missense	2/26	-	1
X-47058238-T-G	c.37T>G	p.S13A	Missense	2/26	-	6
X-47058239-C-G	c.38C>G	p.S13C	Missense	2/26	-	2
X-47058239-C-T	c.38C>T	p.S13F	Missense	2/26	-	1
X-47058240-C-A	c.39C>A	p.S13=	Synonymous	2/26	-	2
X-47058240-C-G	c.39C>G	p.S13=	Synonymous	2/26	-	2
X-47058240-C-T	c.39C>T	p.S13=	Synonymous	2/26	-	2
X-47058241-G-T	c.40G>T	p.G14W	Missense	2/26	-	1
X-47058243-G-A	c.42G>A	p.G14=	Synonymous	2/26	-	1
X-47058243-G-C	c.42G>C	p.G14=	Synonymous	2/26	-	1
X-47058243-G-T	c.42G>T	p.G14=	Synonymous	2/26	-	1
X-47058245-C-A	c.44C>A	p.P15H	Missense	2/26	-	1
X-47058247-G-C	c.46G>C	p.D16H	Missense	2/26	-	1
X-47058249-T-C	c.48T>C	p.D16=	Synonymous	2/26	-	1
X-47058254-A-G	c.53A>G	p.K18R	Missense	2/26	-	2
X-47058255-G-C	c.54G>C	p.K18N	Missense	2/26	-	1
X-47058255-G-T	c.54G>T	p.K18N	Missense	2/26	-	1
X-47058256-C-G	c.55C>G	p.P19A	Missense	2/26	-	1
X-47058256-C-T	c.55C>T	p.P19S	Missense	2/26	-	1
X-47058260-G-A	c.59G>A	p.G20D	Missense	2/26	-	3
X-47058262-T-G	c.61T>G	p.S21A	Missense	2/26	-	1
X-47058268-T-C	c.67T>C	p.C23R	Missense	2/26	-	1
X-47058270-C-G	c.69C>G	p.C23W	Missense	2/26	-	1
X-47058271-T-G	c.70T>G	p.S24A	Missense	2/26	-	1
X-47058273-C-A	c.72C>A	p.S24=	Synonymous	2/26	-	1
X-47058273-C-G	c.72C>G	p.S24=	Synonymous	2/26	-	1
X-47058273-C-T	c.72C>T	p.S24=	Synonymous	2/26	-	1
X-47058275-C-G	c.74C>G	p.P25R	Missense	2/26	-	1
X-47058277-GCC-TAA	c.76_78delinsTAA	p.A26*	Nonsense	2/26	-	1
X-47058278-CC-AG	c.77_78delinsAG	p.A26E	Missense	2/26	-	1
X-47058278-C-G	c.77C>G	p.A26G	Missense	2/26	-	1
X-47058280-C-G	c.79C>G	p.Q27E	Missense	2/26	-	1
X-47058285-C-A	c.84C>A	p.S28=	Synonymous	2/26	-	3
X-47058285-C-G	c.84C>G	p.S28=	Synonymous	2/26	-	2
X-47058285-C-T	c.84C>T	p.S28=	Synonymous	2/26	-	2
X-47058286-GTG-ATC	c.85_87delinsATC	p.V29I	Missense	2/26	-	1
X-47058289-TT-GA	c.88_89delinsGA	p.L30E	Missense	2/26	-	1
X-47058292-TC-AT	c.91_92delinsAT	p.S31I	Missense	2/26	-	1
X-47058292-T-G	c.91T>G	p.S31A	Missense	2/26	-	1
X-47058293-C-T	c.92C>T	p.S31F	Missense	2/26	-	1
X-47058294-C-A	c.93C>A	p.S31=	Synonymous	2/26	-	1
X-47058294-C-G	c.93C>G	p.S31=	Synonymous	2/26	-	1
X-47058294-C-T	c.93C>T	p.S31=	Synonymous	2/26	-	2
X-47058296-A-G	c.95A>G	p.E32G	Missense	2/26	-	1
X-47058301-C-G	c.100C>G	p.P34A	Missense	2/26	-	1
X-47058303-C-A	c.102C>A	p.P34=	Synonymous	2/26	-	1
X-47058304-T-G	c.103T>G	p.S35A	Missense	2/26	-	2
X-47058305-C-T	c.104C>T	p.S35L	Missense	2/26	-	1
X-47058306-G-A	c.105G>A	p.S35=	Synonymous	2/26	-	2
X-47058306-G-C	c.105G>C	p.S35=	Synonymous	2/26	-	1
X-47058306-G-T	c.105G>T	p.S35=	Synonymous	2/26	-	2
X-47058307-G-A	c.106G>A	p.V36M	Missense	2/26	-	1
X-47058309-G-A	c.108G>A	p.V36=	Synonymous	2/26	-	1
X-47058309-G-C	c.108G>C	p.V36=	Synonymous	2/26	-	1
X-47058309-G-T	c.108G>T	p.V36=	Synonymous	2/26	-	1
X-47058310-C-T	c.109C>T	p.P37S	Missense	2/26	-	4
X-47058315-C-T	c.114C>T	p.T38=	Synonymous	2/26	-	1
X-47058318-C-T	c.117C>T	p.N39=	Synonymous	2/26	-	1
X-47058444-TAGGGAATGGCCA-T	c.118_129del	p.G40_K43del	InFrameDeletion	3/26	-	1
X-47058448-G-C	c.119G>C	p.G40A	Missense	3/26	-	1
X-47058449-A-C	c.120A>C	p.G40=	Synonymous	3/26	-	1
X-47058449-A-G	c.120A>G	p.G40=	Synonymous	3/26	-	2
X-47058449-A-T	c.120A>T	p.G40=	Synonymous	3/26	-	1
X-47058450-A-C	c.121A>C	p.M41L	Missense	3/26	-	25
X-47058450-A-G	c.121A>G	p.M41V	Missense	3/26	-	19
X-47058450-A-T	c.121A>T	p.M41L	Missense	3/26	-	9
X-47058450-AT-TA	c.121_122delinsTA	p.M41*	Nonsense	3/26	-	2
X-47058451-T-A	c.122T>A	p.M41K	Missense	3/26	-	1
X-47058451-T-C	c.122T>C	p.M41T	Missense	3/26	-	28
X-47058453-GC-TA	c.124_125delinsTA	p.A42Y	Missense	3/26	-	2
X-47058453-GC-TG	c.124_125delinsTG	p.A42C	Missense	3/26	-	1
X-47058455-C-A	c.126C>A	p.A42=	Synonymous	3/26	-	2
X-47058455-C-G	c.126C>G	p.A42=	Synonymous	3/26	-	3
X-47058455-C-T	c.126C>T	p.A42=	Synonymous	3/26	-	2
X-47058461-C-T	c.132C>T	p.N44=	Synonymous	3/26	-	1
X-47058467-T-C	c.138T>C	p.S46=	Synonymous	3/26	-	1
X-47058471-G-A	c.142G>A	p.A48T	Missense	3/26	-	1
X-47058471-GCA-TTT	c.142_144delinsTTT	p.A48F	Missense	3/26	-	1
X-47058471-G-T	c.142G>T	p.A48S	Missense	3/26	-	1
X-47058477-A-C	c.148A>C	p.I50L	Missense	3/26	-	1
X-47058477-A-T	c.148A>T	p.I50L	Missense	3/26	-	1
X-47058477-AT-GC	c.148_149delinsGC	p.I50A	Missense	3/26	-	1
X-47058478-T-C	c.149T>C	p.I50T	Missense	3/26	-	1
X-47058480-G-A	c.151G>A	p.D51N	Missense	3/26	-	1
X-47058482-C-A	c.153C>A	p.D51E	Missense	3/26	-	1
X-47058482-C-G	c.153C>G	p.D51E	Missense	3/26	-	1
X-47058486-G-A	c.157G>A	p.G53S	Missense	3/26	-	1
X-47058492-T-C	c.163T>C	p.Y55H	Missense	3/26	-	1
X-47058495-TC-CT	c.166_167delinsCT	p.S56L	Missense	3/26	-	1
X-47058496-C-T	c.167C>T	p.S56F	Missense	3/26	-	7
X-47058498-C-A	c.169C>A	p.R57=	Synonymous	3/26	-	1
X-47058498-CG-AA	c.169_170delinsAA	p.R57K	Missense	3/26	-	1
X-47058500-G-A	c.171G>A	p.R57=	Synonymous	3/26	-	1
X-47058500-G-C	c.171G>C	p.R57=	Synonymous	3/26	-	1
X-47058500-G-T	c.171G>T	p.R57=	Synonymous	3/26	-	1
X-47058499-G-A	c.170G>A	p.R57Q	Missense	3/26	-	1
X-47058499-G-T	c.170G>T	p.R57L	Missense	3/26	-	1
X-47058501-C-T	c.172C>T	p.Q58*	Nonsense	3/26	-	1
X-47058502-A-T	c.173A>T	p.Q58L	Missense	3/26	-	1
X-47058529-G-A	c.176+24G>A	-	IntronicSNV	-	3/25	1
X-47058610-A-C	c.179A>C	p.Y60S	Missense	4/26	-	1
X-47058613-T-G	c.182T>G	p.V61G	Missense	4/26	-	1
X-47058623-T-C	c.192T>C	p.H64=	Synonymous	4/26	-	1
X-47058624-G-A	c.193G>A	p.E65K	Missense	4/26	-	1
X-47058625-A-C	c.194A>C	p.E65A	Missense	4/26	-	1
X-47058627-G-A	c.196G>A	p.A66T	Missense	4/26	-	2
X-47058627-GCA-AGCATC	c.196_198delinsAGCATC	p.A66delinsSI	MultiAAMissense	4/26	-	1
X-47058627-GCA-TTT	c.196_198delinsTTT	p.A66F	Missense	4/26	-	1
X-47058627-G-T	c.196G>T	p.A66S	Missense	4/26	-	1
X-47058628-C-A	c.197C>A	p.A66E	Missense	4/26	-	1
X-47058630-A-G	c.199A>G	p.M67V	Missense	4/26	-	2
X-47058630-AT-GC	c.199_200delinsGC	p.M67A	Missense	4/26	-	1
X-47058635-G-A	c.204G>A	p.K68=	Synonymous	4/26	-	1
X-47058636-C-T	c.205C>T	p.R69W	Missense	4/26	-	2
X-47058637-G-A	c.206G>A	p.R69Q	Missense	4/26	-	1
X-47058639-C-A	c.208C>A	p.L70I	Missense	4/26	-	1
X-47058645-A-G	c.214A>G	p.T72A	Missense	4/26	-	3
X-47058646-C-G	c.215C>G	p.T72R	Missense	4/26	-	1
X-47058646-C-T	c.215C>T	p.T72I	Missense	4/26	-	1
X-47058655-T-C	c.224T>C	p.V75A	Missense	4/26	-	1
X-47058657-C-G	c.226C>G	p.L76V	Missense	4/26	-	1
X-47058657-CT-AC	c.226_227delinsAC	p.L76T	Missense	4/26	-	1
X-47058663-TC-AT	c.232_233delinsAT	p.S78I	Missense	4/26	-	1
X-47058672-C-T	c.241C>T	p.R81W	Missense	4/26	-	2
X-47058673-G-A	c.242G>A	p.R81Q	Missense	4/26	-	1
X-47058678-C-T	c.247C>T	p.L83=	Synonymous	4/26	-	1
X-47058680-G-A	c.249G>A	p.L83=	Synonymous	4/26	-	1
X-47058684-G-A	c.253G>A	p.V85M	Missense	4/26	-	1
X-47058687-G-T	c.256G>T	p.E86*	Nonsense	4/26	-	1
X-47058693-G-A	c.262G>A	p.A88T	Missense	4/26	-	4
X-47058699-AA-GC	c.268_269delinsGC	p.N90A	Missense	4/26	-	1
X-47058702-A-T	c.271A>T	p.I91F	Missense	4/26	-	1
X-47058709-T-G	c.278T>G	p.L93R	Missense	4/26	-	1
X-47058711-GGT-TGG	c.280_282delinsTGG	p.G94W	Missense	4/26	-	1
X-47058712-G-C	c.281G>C	p.G94A	Missense	4/26	-	1
X-47058715-G-A	c.284G>A	p.G95E	Missense	4/26	-	2
X-47058718-T-A	c.287T>A	p.V96D	Missense	4/26	-	1
X-47058718-T-C	c.287T>C	p.V96A	Missense	4/26	-	1
X-47058719-C-CTGGCAAT	c.288_289insTGGCAAT	p.K97Wfs*3	Frameshift	4/26	-	1
X-47058723-G-A	c.292G>A	p.A98T	Missense	4/26	-	1
X-47058729-AC-A	c.301del	p.L101Yfs*106	Frameshift	4/26	-	1
X-47058738-G-A	c.307G>A	p.D103N	Missense	4/26	-	2
X-47058740-C-G	c.309C>G	p.D103E	Missense	4/26	-	1
X-47058745-G-C	c.314G>C	p.G105A	Missense	4/26	-	1
X-47058748-C-A	c.317C>A	p.T106N	Missense	4/26	-	1
X-47058748-CT-TG	c.317_318delinsTG	p.T106M	Missense	4/26	-	1
X-47058749-T-A	c.318T>A	p.T106=	Synonymous	4/26	-	1
X-47058749-T-C	c.318T>C	p.T106=	Synonymous	4/26	-	1
X-47058749-T-G	c.318T>G	p.T106=	Synonymous	4/26	-	1
X-47058750-GC-TG	c.319_320delinsTG	p.A107C	Missense	4/26	-	1
X-47058752-C-A	c.321C>A	p.A107=	Synonymous	4/26	-	2
X-47058752-C-G	c.321C>G	p.A107=	Synonymous	4/26	-	2
X-47058752-C-T	c.321C>T	p.A107=	Synonymous	4/26	-	2
X-47058753-C-G	c.322C>G	p.Q108E	Missense	4/26	-	1
X-47058756-T-A	c.325T>A	p.W109R	Missense	4/26	-	1
X-47058756-T-C	c.325T>C	p.W109R	Missense	4/26	-	1
X-47058765-C-T	c.334C>T	p.L112F	Missense	4/26	-	1
X-47058768-TC-GG	c.337_338delinsGG	p.S113G	Missense	4/26	-	1
X-47058770-C-A	c.339C>A	p.S113=	Synonymous	4/26	-	1
X-47058770-C-G	c.339C>G	p.S113=	Synonymous	4/26	-	1
X-47058770-C-T	c.339C>T	p.S113=	Synonymous	4/26	-	1
X-47058771-TC-CG	c.340_341delinsCG	p.S114R	Missense	4/26	-	1
X-47058774-C-G	c.343C>G	p.Q115E	Missense	4/26	-	1
X-47058775-A-G	c.344A>G	p.Q115R	Missense	4/26	-	1
X-47058776-G-C	c.345G>C	p.Q115H	Missense	4/26	-	1
X-47058776-G-T	c.345G>T	p.Q115H	Missense	4/26	-	1
X-47058879-T-C	c.346T>C	p.F116L	Missense	5/26	-	1
X-47058881-C-A	c.348C>A	p.F116L	Missense	5/26	-	2
X-47058881-C-G	c.348C>G	p.F116L	Missense	5/26	-	1
X-47058886-T-C	c.353T>C	p.L118P	Missense	5/26	-	1
X-47058885-C-T	c.352C>T	p.L118=	Synonymous	5/26	-	1
X-47058887-G-A	c.354G>A	p.L118=	Synonymous	5/26	-	2
X-47058887-G-C	c.354G>C	p.L118=	Synonymous	5/26	-	1
X-47058887-G-T	c.354G>T	p.L118=	Synonymous	5/26	-	1
X-47058888-CGG-AGC	c.355_357delinsAGC	p.R119S	Missense	5/26	-	1
X-47058888-C-T	c.355C>T	p.R119W	Missense	5/26	-	2
X-47058889-G-A	c.356G>A	p.R119Q	Missense	5/26	-	1
X-47058891-G-T	c.358G>T	p.E120*	Nonsense	5/26	-	1
X-47058894-G-C	c.361G>C	p.E121Q	Missense	5/26	-	1
X-47058896-G-A	c.363G>A	p.E121=	Synonymous	5/26	-	1
X-47058897-G-A	c.364G>A	p.D122N	Missense	5/26	-	1
X-47058901-T-C	c.368T>C	p.I123T	Missense	5/26	-	1
X-47058903-G-A	c.370G>A	p.G124S	Missense	5/26	-	2
X-47058908-A-G	c.375A>G	p.K125=	Synonymous	5/26	-	1
X-47058910-A-T	c.377A>T	p.N126I	Missense	5/26	-	1
X-47058911-C-T	c.378C>T	p.N126=	Synonymous	5/26	-	1
X-47058912-C-T	c.379C>T	p.R127W	Missense	5/26	-	2
X-47058916-C-G	c.383C>G	p.A128G	Missense	5/26	-	1
X-47058916-C-T	c.383C>T	p.A128V	Missense	5/26	-	2
X-47058918-G-A	c.385G>A	p.E129K	Missense	5/26	-	9
X-47058921-G-C	c.388G>C	p.V130L	Missense	5/26	-	2
X-47058927-C-G	c.394C>G	p.Q132E	Missense	5/26	-	1
X-47058933-C-T	c.400C>T	p.R134C	Missense	5/26	-	2
X-47058934-GC-AA	c.401_402delinsAA	p.R134Q	Missense	5/26	-	1
X-47058936-CT-GC	c.403_404delinsGC	p.L135A	Missense	5/26	-	1
X-47058937-T-C	c.404T>C	p.L135P	Missense	5/26	-	1
X-47058939-G-C	c.406G>C	p.A136P	Missense	5/26	-	1
X-47058939-G-T	c.406G>T	p.A136S	Missense	5/26	-	1
X-47058940-C-G	c.407C>G	p.A136G	Missense	5/26	-	1
X-47058950-C-A	c.417C>A	p.N139K	Missense	5/26	-	1
X-47058950-C-G	c.417C>G	p.N139K	Missense	5/26	-	1
X-47058951-A-T	c.418A>T	p.S140C	Missense	5/26	-	1
X-47058953-C-A	c.420C>A	p.S140R	Missense	5/26	-	1
X-47058955-A-C	c.422A>C	p.Y141S	Missense	5/26	-	2
X-47058955-A-G	c.422A>G	p.Y141C	Missense	5/26	-	1
X-47058961-C-A	c.428C>A	p.P143H	Missense	5/26	-	1
X-47058964-T-A	c.431T>A	p.V144D	Missense	5/26	-	1
X-47058967-C-T	c.434C>T	p.T145I	Missense	5/26	-	1
X-47058971-C-A	c.438C>A	p.A146=	Synonymous	5/26	-	1
X-47058971-C-G	c.438C>G	p.A146=	Synonymous	5/26	-	1
X-47058971-C-T	c.438C>T	p.A146=	Synonymous	5/26	-	1
X-47058975-A-G	c.442A>G	p.T148A	Missense	5/26	-	2
X-47058976-C-T	c.443C>T	p.T148I	Missense	5/26	-	2
X-47058981-C-A	c.448C>A	p.P150T	Missense	5/26	-	1
X-47058984-C-G	c.451C>G	p.L151V	Missense	5/26	-	1
X-47058986-C-A	c.453C>A	p.L151=	Synonymous	5/26	-	1
X-47058986-C-G	c.453C>G	p.L151=	Synonymous	5/26	-	1
X-47058986-C-T	c.453C>T	p.L151=	Synonymous	5/26	-	3
X-47058987-G-A	c.454G>A	p.V152I	Missense	5/26	-	2
X-47058993-G-A	c.460G>A	p.D154N	Missense	5/26	-	1
X-47058997-T-C	c.464T>C	p.F155S	Missense	5/26	-	2
X-47059005-G-A	c.472G>A	p.G158S	Missense	5/26	-	1
X-47059186-CT-C	c.480+186del	-	IntronicDeletion	-	5/25	1
X-47059226-A-G	c.480+213A>G	-	IntronicSNV	-	5/25	1
X-47060294-TG-T	c.484del	p.V162Wfs*45	Frameshift	6/26	-	1
X-47060299-GTG-ATC	c.487_489delinsATC	p.V163I	Missense	6/26	-	1
X-47060304-C-A	c.492C>A	p.L164=	Synonymous	6/26	-	1
X-47060304-C-G	c.492C>G	p.L164=	Synonymous	6/26	-	1
X-47060304-C-T	c.492C>T	p.L164=	Synonymous	6/26	-	1
X-47060305-A-C	c.493A>C	p.T165P	Missense	6/26	-	1
X-47060305-A-G	c.493A>G	p.T165A	Missense	6/26	-	1
X-47060307-C-A	c.495C>A	p.T165=	Synonymous	6/26	-	1
X-47060307-C-G	c.495C>G	p.T165=	Synonymous	6/26	-	1
X-47060307-C-T	c.495C>T	p.T165=	Synonymous	6/26	-	1
X-47060308-A-G	c.496A>G	p.N166D	Missense	6/26	-	1
X-47060311-A-T	c.499A>T	p.T167S	Missense	6/26	-	3
X-47060312-C-G	c.500C>G	p.T167S	Missense	6/26	-	3
X-47060312-C-T	c.500C>T	p.T167I	Missense	6/26	-	1
X-47060313-C-A	c.501C>A	p.T167=	Synonymous	6/26	-	1
X-47060314-C-G	c.502C>G	p.P168A	Missense	6/26	-	1
X-47060326-C-A	c.514C>A	p.Q172K	Missense	6/26	-	1
X-47060329-CT-TA	c.517_518delinsTA	p.L173*	Nonsense	6/26	-	1
X-47060330-T-C	c.518T>C	p.L173P	Missense	6/26	-	1
X-47060331-G-A	c.519G>A	p.L173=	Synonymous	6/26	-	1
X-47060332-C-T	c.520C>T	p.R174*	Nonsense	6/26	-	2
X-47060332-GC-G	c.520del	p.R174Efs*33	Frameshift	6/26	-	1
X-47060333-G-A	c.521G>A	p.R174Q	Missense	6/26	-	1
X-47060335-GTG-TTT	c.523_525delinsTTT	p.V175F	Missense	6/26	-	1
X-47060342-A-C	c.530A>C	p.E177A	Missense	6/26	-	1
X-47060349-T-C	c.537T>C	p.C179=	Synonymous	6/26	-	1
X-47060353-A-G	c.541A>G	p.N181D	Missense	6/26	-	1
X-47060356-CGT-TGG	c.544_546delinsTGG	p.R182W	Missense	6/26	-	1
X-47060356-C-T	c.544C>T	p.R182C	Missense	6/26	-	3
X-47060357-G-A	c.545G>A	p.R182H	Missense	6/26	-	2
X-47060357-GT-AA	c.545_546delinsAA	p.R182Q	Missense	6/26	-	2
X-47060359-G-C	c.547G>C	p.G183R	Missense	6/26	-	1
X-47060367-G-A	c.555G>A	p.K185=	Synonymous	6/26	-	2
X-47060377-G-A	c.565G>A	p.A189T	Missense	6/26	-	2
X-47060380-G-A	c.568G>A	p.D190N	Missense	6/26	-	2
X-47060382-C-A	c.570C>A	p.D190E	Missense	6/26	-	1
X-47060382-C-G	c.570C>G	p.D190E	Missense	6/26	-	1
X-47060384-C-T	c.572C>T	p.T191M	Missense	6/26	-	3
X-47060385-G-T	c.573G>T	p.T191=	Synonymous	6/26	-	1
X-47060386-C-A	c.574C>A	p.R192=	Synonymous	6/26	-	1
X-47060386-C-T	c.574C>T	p.R192W	Missense	6/26	-	2
X-47060390-G-A	c.578G>A	p.G193D	Missense	6/26	-	1
X-47060679-C-T	c.592C>T	p.L198F	Missense	7/26	-	1
X-47060679-CT-GC	c.592_593delinsGC	p.L198A	Missense	7/26	-	1
X-47060681-C-A	c.594C>A	p.L198=	Synonymous	7/26	-	1
X-47060688-G-C	c.601G>C	p.D201H	Missense	7/26	-	1
X-47060693-T-G	c.606T>G	p.F202L	Missense	7/26	-	1
X-47060697-G-C	c.610G>C	p.E204Q	Missense	7/26	-	1
X-47060698-A-G	c.611A>G	p.E204G	Missense	7/26	-	1
X-47060700-G-A	c.613G>A	p.E205K	Missense	7/26	-	2
X-47060701-A-C	c.614A>C	p.E205A	Missense	7/26	-	1
X-47060715-G-A	c.628G>A	p.D210N	Missense	7/26	-	4
X-47060718-TC-CG	c.631_632delinsCG	p.S211R	Missense	7/26	-	1
X-47060718-TC-CT	c.631_632delinsCT	p.S211L	Missense	7/26	-	1
X-47060725-G-C	c.638G>C	p.G213A	Missense	7/26	-	1
X-47060729-G-C	c.642G>C	p.E214D	Missense	7/26	-	2
X-47060729-G-T	c.642G>T	p.E214D	Missense	7/26	-	3
X-47060730-C-T	c.643C>T	p.Q215*	Nonsense	7/26	-	1
X-47060736-C-T	c.649C>T	p.L217F	Missense	7/26	-	3
X-47060740-G-A	c.653G>A	p.S218N	Missense	7/26	-	1
X-47060742-G-C	c.655G>C	p.A219P	Missense	7/26	-	1
X-47060743-C-T	c.656C>T	p.A219V	Missense	7/26	-	1
X-47060745-A-C	c.658A>C	p.M220L	Missense	7/26	-	1
X-47060745-A-T	c.658A>T	p.M220L	Missense	7/26	-	1
X-47060752-C-T	c.665C>T	p.S222F	Missense	7/26	-	1
X-47060753-T-C	c.666T>C	p.S222=	Synonymous	7/26	-	1
X-47060757-G-A	c.670G>A	p.V224I	Missense	7/26	-	1
X-47060760-A-G	c.673A>G	p.T225A	Missense	7/26	-	1
X-47060844-C-G	c.679-33C>G	-	IntronicSNV	-	7/25	8
X-47060885-C-T	c.687C>T	p.P229=	Synonymous	8/26	-	1
X-47060886-G-C	c.688G>C	p.G230R	Missense	8/26	-	1
X-47060887-G-C	c.689G>C	p.G230A	Missense	8/26	-	1
X-47060892-G-A	c.694G>A	p.V232I	Missense	8/26	-	1
X-47060897-C-A	c.699C>A	p.T233=	Synonymous	8/26	-	1
X-47060897-C-G	c.699C>G	p.T233=	Synonymous	8/26	-	1
X-47060897-C-T	c.699C>T	p.T233=	Synonymous	8/26	-	1
X-47060900-C-T	c.702C>T	p.C234=	Synonymous	8/26	-	2
X-47060901-CT-GC	c.703_704delinsGC	p.L235A	Missense	8/26	-	1
X-47060908-A-T	c.710A>T	p.E237V	Missense	8/26	-	1
X-47060909-G-C	c.711G>C	p.E237D	Missense	8/26	-	2
X-47060909-G-T	c.711G>T	p.E237D	Missense	8/26	-	2
X-47060910-G-A	c.712G>A	p.A238T	Missense	8/26	-	2
X-47060913-C-G	c.715C>G	p.R239G	Missense	8/26	-	1
X-47060913-C-T	c.715C>T	p.R239*	Nonsense	8/26	-	2
X-47060914-GA-AT	c.716_717delinsAT	p.R239H	Missense	8/26	-	1
X-47060919-G-A	c.721G>A	p.G241R	Missense	8/26	-	1
X-47060919-G-C	c.721G>C	p.G241R	Missense	8/26	-	1
X-47060919-GGG-AGC	c.721_723delinsAGC	p.G241S	Missense	8/26	-	1
X-47060922-T-C	c.724T>C	p.F242L	Missense	8/26	-	2
X-47060924-T-A	c.726T>A	p.F242L	Missense	8/26	-	2
X-47060924-T-G	c.726T>G	p.F242L	Missense	8/26	-	2
X-47060927-G-GTT	c.729_730insTT	p.S244Lfs*75	Frameshift	8/26	-	1
X-47060929-G-A	c.731G>A	p.S244N	Missense	8/26	-	2
X-47060930-C-A	c.732C>A	p.S244R	Missense	8/26	-	1
X-47060930-C-T	c.732C>T	p.S244=	Synonymous	8/26	-	1
X-47060931-G-A	c.733G>A	p.G245R	Missense	8/26	-	1
X-47060931-G-C	c.733G>C	p.G245R	Missense	8/26	-	1
X-47060935-A-G	c.737A>G	p.D246G	Missense	8/26	-	1
X-47060937-T-C	c.739T>C	p.F247L	Missense	8/26	-	7
X-47060937-T-G	c.739T>G	p.F247V	Missense	8/26	-	1
X-47060939-T-A	c.741T>A	p.F247L	Missense	8/26	-	7
X-47060939-T-G	c.741T>G	p.F247L	Missense	8/26	-	7
X-47060938-T-G	c.740T>G	p.F247C	Missense	8/26	-	1
X-47060944-C-T	c.746C>T	p.S249F	Missense	8/26	-	3
X-47060949-TCA-AAC	c.751_753delinsAAC	p.S251N	Missense	8/26	-	1
X-47060950-C-G	c.752C>G	p.S251*	Nonsense	8/26	-	1
X-47060952-G-C	c.754G>C	p.E252Q	Missense	8/26	-	1
X-47060954-A-C	c.756A>C	p.E252D	Missense	8/26	-	1
X-47060954-A-T	c.756A>T	p.E252D	Missense	8/26	-	1
X-47060962-G-A	c.764G>A	p.G255D	Missense	8/26	-	1
X-47060962-G-C	c.764G>C	p.G255A	Missense	8/26	-	1
X-47060972-A-C	c.774A>C	p.E258D	Missense	8/26	-	1
X-47060972-A-T	c.774A>T	p.E258D	Missense	8/26	-	1
X-47060979-G-A	c.781G>A	p.G261R	Missense	8/26	-	4
X-47060979-G-C	c.781G>C	p.G261R	Missense	8/26	-	1
X-47060979-GGA-AGC	c.781_783delinsAGC	p.G261S	Missense	8/26	-	1
X-47060980-G-A	c.782G>A	p.G261E	Missense	8/26	-	2
X-47060987-G-C	c.789G>C	p.Q263H	Missense	8/26	-	1
X-47060987-G-T	c.789G>T	p.Q263H	Missense	8/26	-	2
X-47060988-C-A	c.790C>A	p.P264T	Missense	8/26	-	1
X-47060989-C-T	c.791C>T	p.P264L	Missense	8/26	-	2
X-47060990-C-T	c.792C>T	p.P264=	Synonymous	8/26	-	1
X-47060991-A-G	c.793A>G	p.M265V	Missense	8/26	-	1
X-47060996-G-A	c.798G>A	p.E266=	Synonymous	8/26	-	1
X-47061002-A-C	c.804A>C	p.K268N	Missense	8/26	-	3
X-47061002-A-T	c.804A>T	p.K268N	Missense	8/26	-	2
X-47061003-GTC-ATG	c.805_807delinsATG	p.V269M	Missense	8/26	-	1
X-47061006-CTG-ATC	c.808_810delinsATC	p.L270I	Missense	8/26	-	1
X-47061009-G-A	c.811G>A	p.G271S	Missense	8/26	-	1
X-47061009-G-T	c.811G>T	p.G271C	Missense	8/26	-	1
X-47061018-C-A	c.811+9C>A	-	IntronicSNV	-	8/25	9
X-47061018-C-G	c.811+9C>G	-	IntronicSNV	-	8/25	12
X-47061071-G-A	c.811+62G>A	-	IntronicSNV	-	8/25	1
X-47061551-G-A	c.812-4G>A	-	IntronicSNV	-	8/25	1
X-47061551-G-T	c.812-4G>T	-	IntronicSNV	-	8/25	1
X-47061556-T-G	c.813T>G	p.G271=	Synonymous	9/26	-	1
X-47061557-C-T	c.814C>T	p.P272S	Missense	9/26	-	1
X-47061561-A-C	c.818A>C	p.Y273S	Missense	9/26	-	1
X-47061581-A-G	c.838A>G	p.T280A	Missense	9/26	-	1
X-47061581-A-T	c.838A>T	p.T280S	Missense	9/26	-	1
X-47061582-CC-TG	c.839_840delinsTG	p.T280M	Missense	9/26	-	1
X-47061582-C-G	c.839C>G	p.T280S	Missense	9/26	-	1
X-47061583-C-T	c.840C>T	p.T280=	Synonymous	9/26	-	1
X-47061584-T-A	c.841T>A	p.S281T	Missense	9/26	-	1
X-47061589-C-A	c.846C>A	p.N282K	Missense	9/26	-	1
X-47061589-C-T	c.846C>T	p.N282=	Synonymous	9/26	-	2
X-47061594-C-G	c.851C>G	p.S284C	Missense	9/26	-	1
X-47061595-C-A	c.852C>A	p.S284=	Synonymous	9/26	-	1
X-47061595-C-T	c.852C>T	p.S284=	Synonymous	9/26	-	3
X-47061598-C-T	c.855C>T	p.D285=	Synonymous	9/26	-	3
X-47061602-A-G	c.859A>G	p.I287V	Missense	9/26	-	1
X-47061602-A-T	c.859A>T	p.I287F	Missense	9/26	-	3
X-47061605-C-A	c.862C>A	p.R288S	Missense	9/26	-	1
X-47061605-CGT-TGG	c.862_864delinsTGG	p.R288W	Missense	9/26	-	1
X-47061605-C-T	c.862C>T	p.R288C	Missense	9/26	-	4
X-47061606-G-A	c.863G>A	p.R288H	Missense	9/26	-	3
X-47061609-G-A	c.866G>A	p.G289E	Missense	9/26	-	1
X-47061618-T-A	c.875T>A	p.V292D	Missense	9/26	-	1
X-47061621-G-A	c.878G>A	p.S293N	Missense	9/26	-	2
X-47061628-C-G	c.885C>G	p.V295=	Synonymous	9/26	-	1
X-47061629-AAA-TGG	c.886_888delinsTGG	p.K296W	Missense	9/26	-	1
X-47061630-A-G	c.887A>G	p.K296R	Missense	9/26	-	1
X-47061630-A-T	c.887A>T	p.K296I	Missense	9/26	-	1
X-47061631-A-C	c.888A>C	p.K296N	Missense	9/26	-	1
X-47061631-A-G	c.888A>G	p.K296=	Synonymous	9/26	-	1
X-47061632-GTA-TTT	c.889_891delinsTTT	p.V297F	Missense	9/26	-	1
X-47061633-T-C	c.890T>C	p.V297A	Missense	9/26	-	2
X-47061639-A-G	c.896A>G	p.K299R	Missense	9/26	-	1
X-47061642-A-T	c.899A>T	p.K300M	Missense	9/26	-	1
X-47061643-G-C	c.900G>C	p.K300N	Missense	9/26	-	1
X-47061643-G-T	c.900G>T	p.K300N	Missense	9/26	-	1
X-47061647-A-G	c.904A>G	p.S302G	Missense	9/26	-	1
X-47061764-T-A	c.917T>A	p.L306*	Nonsense	10/26	-	1
X-47061769-G-A	c.922G>A	p.A308T	Missense	10/26	-	1
X-47061770-C-A	c.923C>A	p.A308D	Missense	10/26	-	1
X-47061780-A-G	c.933A>G	p.A311=	Synonymous	10/26	-	1
X-47061783-A-C	c.936A>C	p.E312D	Missense	10/26	-	1
X-47061783-A-T	c.936A>T	p.E312D	Missense	10/26	-	1
X-47061794-T-C	c.947T>C	p.V316A	Missense	10/26	-	1
X-47061800-C-T	c.953C>T	p.T318M	Missense	10/26	-	1
X-47061801-G-A	c.954G>A	p.T318=	Synonymous	10/26	-	2
X-47061801-G-C	c.954G>C	p.T318=	Synonymous	10/26	-	2
X-47061801-G-T	c.954G>T	p.T318=	Synonymous	10/26	-	4
X-47061800-CG-C	c.955del	p.D319Tfs*41	Frameshift	10/26	-	1
X-47061803-A-G	c.956A>G	p.D319G	Missense	10/26	-	1
X-47061807-C-T	c.960C>T	p.F320=	Synonymous	10/26	-	4
X-47061809-C-G	c.962C>G	p.A321G	Missense	10/26	-	3
X-47061812-A-G	c.965A>G	p.K322R	Missense	10/26	-	3
X-47061812-A-T	c.965A>T	p.K322M	Missense	10/26	-	1
X-47061813-G-A	c.966G>A	p.K322=	Synonymous	10/26	-	1
X-47061814-T-C	c.967T>C	p.F323L	Missense	10/26	-	7
X-47061816-T-A	c.969T>A	p.F323L	Missense	10/26	-	6
X-47061816-T-G	c.969T>G	p.F323L	Missense	10/26	-	6
X-47061818-C-G	c.971C>G	p.S324C	Missense	10/26	-	1
X-47061821-G-A	c.974G>A	p.R325H	Missense	10/26	-	1
X-47061824-C-G	c.977C>G	p.P326R	Missense	10/26	-	1
X-47061824-C-T	c.977C>T	p.P326L	Missense	10/26	-	1
X-47061826-G-C	c.979G>C	p.A327P	Missense	10/26	-	1
X-47061828-C-T	c.981C>T	p.A327=	Synonymous	10/26	-	2
X-47061830-A-G	c.983A>G	p.Q328R	Missense	10/26	-	1
X-47061841-GGC-TGG	c.994_996delinsTGG	p.G332W	Missense	10/26	-	1
X-47061842-G-A	c.995G>A	p.G332D	Missense	10/26	-	1
X-47061842-GC-AG	c.995_996delinsAG	p.G332E	Missense	10/26	-	1
X-47061848-A-T	c.1001A>T	p.Q334L	Missense	10/26	-	4
X-47061857-A-G	c.1010A>G	p.H337R	Missense	10/26	-	1
X-47061861-G-C	c.1014G>C	p.Q338H	Missense	10/26	-	1
X-47061861-G-T	c.1014G>T	p.Q338H	Missense	10/26	-	1
X-47061863-T-C	c.1016T>C	p.F339S	Missense	10/26	-	1
X-47061867-T-C	c.1020T>C	p.C340=	Synonymous	10/26	-	1
X-47061868-G-A	c.1021G>A	p.A341T	Missense	10/26	-	2
X-47061869-C-T	c.1022C>T	p.A341V	Missense	10/26	-	3
X-47061874-C-T	c.1027C>T	p.H343Y	Missense	10/26	-	1
X-47061878-G-A	c.1031G>A	p.G344D	Missense	10/26	-	1
X-47061878-G-C	c.1031G>C	p.G344A	Missense	10/26	-	1
X-47061878-G-T	c.1031G>T	p.G344V	Missense	10/26	-	1
X-47061880-CG-AA	c.1033_1034delinsAA	p.R345K	Missense	10/26	-	1
X-47061880-C-T	c.1033C>T	p.R345W	Missense	10/26	-	1
X-47061881-GG-AT	c.1034_1035delinsAT	p.R345H	Missense	10/26	-	1
X-47061887-C-A	c.1040C>A	p.P347H	Missense	10/26	-	1
X-47061889-C-G	c.1042C>G	p.R348G	Missense	10/26	-	1
X-47061889-CGG-TGT	c.1042_1044delinsTGT	p.R348C	Missense	10/26	-	1
X-47061889-C-T	c.1042C>T	p.R348W	Missense	10/26	-	4
X-47061890-G-A	c.1043G>A	p.R348Q	Missense	10/26	-	1
X-47061895-CG-AT	c.1048_1049delinsAT	p.R350I	Missense	10/26	-	1
X-47061900-T-G	c.1053T>G	p.N351K	Missense	10/26	-	1
X-47062046-G-A	c.1066G>A	p.A356T	Missense	11/26	-	1
X-47062054-G-T	c.1074G>T	p.L358=	Synonymous	11/26	-	1
X-47062055-G-C	c.1075G>C	p.V359L	Missense	11/26	-	1
X-47062055-G-T	c.1075G>T	p.V359L	Missense	11/26	-	2
X-47062064-GCA-TGT	c.1084_1086delinsTGT	p.A362C	Missense	11/26	-	1
X-47062069-G-C	c.1089G>C	p.Q363H	Missense	11/26	-	1
X-47062069-G-T	c.1089G>T	p.Q363H	Missense	11/26	-	1
X-47062071-C-T	c.1091C>T	p.A364V	Missense	11/26	-	2
X-47062073-G-C	c.1093G>C	p.V365L	Missense	11/26	-	1
X-47062073-G-T	c.1093G>T	p.V365L	Missense	11/26	-	2
X-47062076-A-G	c.1096A>G	p.N366D	Missense	11/26	-	1
X-47062079-G-A	c.1099G>A	p.A367T	Missense	11/26	-	1
X-47062079-G-T	c.1099G>T	p.A367S	Missense	11/26	-	1
X-47062083-G-A	c.1103G>A	p.R368Q	Missense	11/26	-	2
X-47062085-G-T	c.1105G>T	p.A369S	Missense	11/26	-	3
X-47062086-C-G	c.1106C>G	p.A369G	Missense	11/26	-	1
X-47062086-C-T	c.1106C>T	p.A369V	Missense	11/26	-	1
X-47062092-C-T	c.1112C>T	p.P371L	Missense	11/26	-	1
X-47062094-G-T	c.1114G>T	p.A372S	Missense	11/26	-	1
X-47062095-C-G	c.1115C>G	p.A372G	Missense	11/26	-	1
X-47062097-G-A	c.1117G>A	p.V373M	Missense	11/26	-	1
X-47062115-G-A	c.1135G>A	p.D379N	Missense	11/26	-	1
X-47062123-C-A	c.1143C>A	p.D381E	Missense	11/26	-	1
X-47062123-C-G	c.1143C>G	p.D381E	Missense	11/26	-	1
X-47062127-A-T	c.1147A>T	p.I383F	Missense	11/26	-	1
X-47062129-C-G	c.1149C>G	p.I383M	Missense	11/26	-	1
X-47062130-C-T	c.1150C>T	p.R384W	Missense	11/26	-	2
X-47062131-G-A	c.1151G>A	p.R384Q	Missense	11/26	-	2
X-47062131-G-T	c.1151G>T	p.R384L	Missense	11/26	-	1
X-47062143-A-G	c.1163A>G	p.Y388C	Missense	11/26	-	1
X-47062150-T-A	c.1170T>A	p.A390=	Synonymous	11/26	-	1
X-47062155-G-C	c.1175G>C	p.G392A	Missense	11/26	-	1
X-47062155-G-T	c.1175G>T	p.G392V	Missense	11/26	-	1
X-47062157-G-T	c.1177G>T	p.D393Y	Missense	11/26	-	1
X-47062169-A-G	c.1189A>G	p.I397V	Missense	11/26	-	2
X-47062175-G-A	c.1195G>A	p.A399T	Missense	11/26	-	2
X-47062175-G-T	c.1195G>T	p.A399S	Missense	11/26	-	1
X-47062183-T-G	c.1203T>G	p.I401M	Missense	11/26	-	1
X-47062184-G-T	c.1204G>T	p.G402W	Missense	11/26	-	3
X-47062188-G-C	c.1208G>C	p.G403A	Missense	11/26	-	1
X-47062193-G-A	c.1213G>A	p.A405T	Missense	11/26	-	1
X-47062196-G-T	c.1216G>T	p.A406S	Missense	11/26	-	1
X-47062197-C-T	c.1217C>T	p.A406V	Missense	11/26	-	1
X-47062199-C-G	c.1219C>G	p.Q407E	Missense	11/26	-	1
X-47062201-G-A	c.1221G>A	p.Q407=	Synonymous	11/26	-	1
X-47062206-T-C	c.1226T>C	p.V409A	Missense	11/26	-	1
X-47062208-A-C	c.1228A>C	p.M410L	Missense	11/26	-	1
X-47062208-A-G	c.1228A>G	p.M410V	Missense	11/26	-	1
X-47062208-A-T	c.1228A>T	p.M410L	Missense	11/26	-	1
X-47062209-T-C	c.1229T>C	p.M410T	Missense	11/26	-	1
X-47062211-A-C	c.1231A>C	p.K411Q	Missense	11/26	-	1
X-47062256-T-G	c.1233+43T>G	-	IntronicSNV	-	11/25	1
X-47062342-G-A	c.1234G>A	p.A412T	Missense	12/26	-	2
X-47062349-C-T	c.1241C>T	p.S414F	Missense	12/26	-	1
X-47062351-G-A	c.1243G>A	p.G415R	Missense	12/26	-	3
X-47062351-G-C	c.1243G>C	p.G415R	Missense	12/26	-	1
X-47062351-GGG-TGT	c.1243_1245delinsTGT	p.G415C	Missense	12/26	-	1
X-47062353-G-A	c.1245G>A	p.G415=	Synonymous	12/26	-	1
X-47062353-G-C	c.1245G>C	p.G415=	Synonymous	12/26	-	1
X-47062353-G-T	c.1245G>T	p.G415=	Synonymous	12/26	-	1
X-47062359-C-G	c.1251C>G	p.F417L	Missense	12/26	-	1
X-47062359-C-T	c.1251C>T	p.F417=	Synonymous	12/26	-	1
X-47062360-A-C	c.1252A>C	p.M418L	Missense	12/26	-	1
X-47062360-A-T	c.1252A>T	p.M418L	Missense	12/26	-	1
X-47062364-C-T	c.1256C>T	p.P419L	Missense	12/26	-	1
X-47062366-A-G	c.1258A>G	p.I420V	Missense	12/26	-	1
X-47062372-C-G	c.1264C>G	p.Q422E	Missense	12/26	-	1
X-47062394-T-C	c.1286T>C	p.L429P	Missense	12/26	-	2
X-47062396-G-A	c.1288G>A	p.E430K	Missense	12/26	-	2
X-47062399-T-A	c.1291T>A	p.C431S	Missense	12/26	-	3
X-47062399-TG-GC	c.1291_1292delinsGC	p.C431A	Missense	12/26	-	4
X-47062400-G-C	c.1292G>C	p.C431S	Missense	12/26	-	3
X-47062400-G-T	c.1292G>T	p.C431F	Missense	12/26	-	1
X-47062402-C-T	c.1294C>T	p.L432F	Missense	12/26	-	1
X-47062405-C-T	c.1297C>T	p.P433S	Missense	12/26	-	1
X-47062423-C-G	c.1315C>G	p.L439V	Missense	12/26	-	1
X-47062426-A-G	c.1318A>G	p.T440A	Missense	12/26	-	2
X-47062424-TCA-T	c.1319_1320del	p.T440Rfs*12	Frameshift	12/26	-	1
X-47062429-G-A	c.1321G>A	p.E441K	Missense	12/26	-	1
X-47062429-GA-AC	c.1321_1322delinsAC	p.E441T	Missense	12/26	-	1
X-47062429-G-T	c.1321G>T	p.E441*	Nonsense	12/26	-	1
X-47062431-G-A	c.1323G>A	p.E441=	Synonymous	12/26	-	1
X-47062436-A-G	c.1328A>G	p.K443R	Missense	12/26	-	1
X-47062438-TG-AC	c.1330_1331delinsAC	p.C444T	Missense	12/26	-	1
X-47062440-C-T	c.1332C>T	p.C444=	Synonymous	12/26	-	1
X-47062442-T-C	c.1334T>C	p.L445P	Missense	12/26	-	1
X-47062443-C-T	c.1335C>T	p.L445=	Synonymous	12/26	-	2
X-47062445-AGGTATGTGGGTGGGACCTGTGGGGAGG-A	c.1338+1_1338+27del	-	SpliceDonorDeletion	-	12/25	1
X-47062533-C-T	c.1339C>T	p.R447C	Missense	13/26	-	3
X-47062534-G-A	c.1340G>A	p.R447H	Missense	13/26	-	30
X-47062534-G-T	c.1340G>T	p.R447L	Missense	13/26	-	5
X-47062538-G-T	c.1344G>T	p.Q448H	Missense	13/26	-	1
X-47062542-CG-AT	c.1348_1349delinsAT	p.R450I	Missense	13/26	-	1
X-47062548-G-A	c.1354G>A	p.D452N	Missense	13/26	-	1
X-47062550-C-T	c.1356C>T	p.D452=	Synonymous	13/26	-	1
X-47062551-G-A	c.1357G>A	p.G453R	Missense	13/26	-	1
X-47062554-C-T	c.1360C>T	p.Q454*	Nonsense	13/26	-	1
X-47062560-G-A	c.1366G>A	p.A456T	Missense	13/26	-	1
X-47062565-G-T	c.1371G>T	p.V457=	Synonymous	13/26	-	2
X-47062570-G-A	c.1376G>A	p.G459D	Missense	13/26	-	1
X-47062578-C-T	c.1384C>T	p.L462=	Synonymous	13/26	-	1
X-47062581-C-T	c.1387C>T	p.Q463*	Nonsense	13/26	-	1
X-47062594-G-A	c.1400G>A	p.G467D	Missense	13/26	-	1
X-47062604-G-A	c.1410G>A	p.K470=	Synonymous	13/26	-	1
X-47062610-C-T	c.1416C>T	p.F472=	Synonymous	13/26	-	1
X-47062620-G-A	c.1419+7G>A	-	IntronicSNV	-	13/25	1
X-47062940-G-A	c.1420G>A	p.V474M	Missense	14/26	-	2
X-47062941-T-C	c.1421T>C	p.V474A	Missense	14/26	-	1
X-47062947-C-G	c.1427C>G	p.A476G	Missense	14/26	-	1
X-47062947-C-T	c.1427C>T	p.A476V	Missense	14/26	-	3
X-47062948-G-A	c.1428G>A	p.A476=	Synonymous	14/26	-	1
X-47062948-G-C	c.1428G>C	p.A476=	Synonymous	14/26	-	2
X-47062948-G-T	c.1428G>T	p.A476=	Synonymous	14/26	-	1
X-47062949-GGG-TGT	c.1429_1431delinsTGT	p.G477C	Missense	14/26	-	1
X-47062952-G-T	c.1432G>T	p.A478S	Missense	14/26	-	2
X-47062953-C-T	c.1433C>T	p.A478V	Missense	14/26	-	1
X-47062955-AT-GC	c.1435_1436delinsGC	p.I479A	Missense	14/26	-	1
X-47062965-A-T	c.1445A>T	p.E482V	Missense	14/26	-	1
X-47062966-G-T	c.1446G>T	p.E482D	Missense	14/26	-	1
X-47062967-C-A	c.1447C>A	p.L483M	Missense	14/26	-	1
X-47062970-C-A	c.1450C>A	p.L484I	Missense	14/26	-	1
X-47062972-C-G	c.1452C>G	p.L484=	Synonymous	14/26	-	1
X-47062975-G-A	c.1455G>A	p.K485=	Synonymous	14/26	-	2
X-47062976-A-G	c.1456A>G	p.N486D	Missense	14/26	-	1
X-47062993-G-A	c.1473G>A	p.G491=	Synonymous	14/26	-	1
X-47062993-G-C	c.1473G>C	p.G491=	Synonymous	14/26	-	1
X-47062993-G-T	c.1473G>T	p.G491=	Synonymous	14/26	-	1
X-47062997-G-T	c.1477G>T	p.G493C	Missense	14/26	-	1
X-47063001-G-A	c.1481G>A	p.C494Y	Missense	14/26	-	1
X-47063001-G-C	c.1481G>C	p.C494S	Missense	14/26	-	1
X-47063006-G-A	c.1486G>A	p.E496K	Missense	14/26	-	1
X-47063009-G-A	c.1489G>A	p.G497S	Missense	14/26	-	1
X-47063010-G-C	c.1490G>C	p.G497A	Missense	14/26	-	1
X-47063021-A-G	c.1501A>G	p.I501V	Missense	14/26	-	1
X-47063021-AT-GA	c.1501_1502delinsGA	p.I501D	Missense	14/26	-	1
X-47063023-C-T	c.1503C>T	p.I501=	Synonymous	14/26	-	2
X-47063025-T-C	c.1505T>C	p.V502A	Missense	14/26	-	1
X-47063030-G-A	c.1510G>A	p.D504N	Missense	14/26	-	1
X-47063036-G-A	c.1516G>A	p.D506N	Missense	14/26	-	1
X-47063042-A-G	c.1522A>G	p.I508V	Missense	14/26	-	1
X-47063047-GA-G	c.1529del	p.K510Sfs*4	Frameshift	14/26	-	1
X-47063050-G-A	c.1530G>A	p.K510=	Synonymous	14/26	-	1
X-47063063-C-T	c.1543C>T	p.R515*	Nonsense	14/26	-	1
X-47063064-G-A	c.1544G>A	p.R515Q	Missense	14/26	-	1
X-47063064-G-C	c.1544G>C	p.R515P	Missense	14/26	-	1
X-47063072-C-G	c.1552C>G	p.L518V	Missense	14/26	-	1
X-47063078-C-T	c.1558C>T	p.R520W	Missense	14/26	-	1
X-47063079-G-A	c.1559G>A	p.R520Q	Missense	14/26	-	4
X-47063082-C-T	c.1562C>T	p.P521L	Missense	14/26	-	1
X-47063083-C-T	c.1563C>T	p.P521=	Synonymous	14/26	-	1
X-47063086-G-C	c.1566G>C	p.W522C	Missense	14/26	-	1
X-47063086-G-T	c.1566G>T	p.W522C	Missense	14/26	-	1
X-47063090-G-A	c.1570G>A	p.V524I	Missense	14/26	-	1
X-47063091-T-A	c.1571T>A	p.V524D	Missense	14/26	-	1
X-47063092-C-T	c.1572C>T	p.V524=	Synonymous	14/26	-	1
X-47063094-C-T	c.1574C>T	p.T525M	Missense	14/26	-	1
X-47063095-G-A	c.1575G>A	p.T525=	Synonymous	14/26	-	1
X-47063095-G-C	c.1575G>C	p.T525=	Synonymous	14/26	-	1
X-47063095-G-T	c.1575G>T	p.T525=	Synonymous	14/26	-	1
X-47063126-G-A	c.1575+31G>A	-	IntronicSNV	-	14/25	1
X-47063126-G-T	c.1575+31G>T	-	IntronicSNV	-	14/25	1
X-47063146-C-T	c.1575+51C>T	-	IntronicSNV	-	14/25	1
X-47063146-TC-T	c.1575+51del	-	IntronicDeletion	-	14/25	1
X-47063146-C-CT	c.1575+68dup	-	IntronicInsertion	-	14/25	1
X-47064268-G-C	c.1576-1079G>C	-	IntronicSNV	-	14/25	1
X-47065186-G-A	c.1576-161G>A	-	IntronicSNV	-	14/25	5
X-47065349-G-A	c.1578G>A	p.K526=	Synonymous	15/26	-	1
X-47065353-AA-GC	c.1582_1583delinsGC	p.K528A	Missense	15/26	-	1
X-47065353-A-C	c.1582A>C	p.K528Q	Missense	15/26	-	1
X-47065355-G-A	c.1584G>A	p.K528=	Synonymous	15/26	-	1
X-47065357-C-T	c.1586C>T	p.S529F	Missense	15/26	-	2
X-47065363-C-A	c.1592C>A	p.T531K	Missense	15/26	-	1
X-47065367-TG-CA	c.1596_1597inv	p.A533T	Missense	15/26	-	1
X-47065378-T-A	c.1607T>A	p.V536E	Missense	15/26	-	1
X-47065380-CGC-TGG	c.1609_1611delinsTGG	p.R537W	Missense	15/26	-	1
X-47065381-G-A	c.1610G>A	p.R537H	Missense	15/26	-	1
X-47065381-GC-AA	c.1610_1611delinsAA	p.R537Q	Missense	15/26	-	1
X-47065381-G-T	c.1610G>T	p.R537L	Missense	15/26	-	1
X-47065388-G-A	c.1617G>A	p.M539I	Missense	15/26	-	7
X-47065388-G-C	c.1617G>C	p.M539I	Missense	15/26	-	4
X-47065388-G-T	c.1617G>T	p.M539I	Missense	15/26	-	9
X-47065393-C-T	c.1622C>T	p.P541L	Missense	15/26	-	1
X-47065396-A-G	c.1625A>G	p.H542R	Missense	15/26	-	1
X-47065397-T-C	c.1626T>C	p.H542=	Synonymous	15/26	-	1
X-47065401-CG-AA	c.1630_1631delinsAA	p.R544K	Missense	15/26	-	1
X-47065401-C-T	c.1630C>T	p.R544W	Missense	15/26	-	1
X-47065402-G-A	c.1631G>A	p.R544Q	Missense	15/26	-	2
X-47065402-G-GGT	c.1632_1633insTG	p.V545Wfs*2	Frameshift	15/26	-	1
X-47065410-A-G	c.1639A>G	p.S547G	Missense	15/26	-	7
X-47065414-A-G	c.1643A>G	p.H548R	Missense	15/26	-	2
X-47065418-G-T	c.1647G>T	p.Q549H	Missense	15/26	-	1
X-47065419-AAC-TAA	c.1648_1650delinsTAA	p.N550*	Nonsense	15/26	-	1
X-47065420-A-G	c.1649A>G	p.N550S	Missense	15/26	-	1
X-47065422-C-T	c.1651C>T	p.R551C	Missense	15/26	-	2
X-47065429-G-C	c.1658G>C	p.G553A	Missense	15/26	-	1
X-47065429-GT-AG	c.1658_1659delinsAG	p.G553E	Missense	15/26	-	1
X-47065432-CT-AA	c.1661_1662delinsAA	p.P554Q	Missense	15/26	-	1
X-47065434-G-A	c.1663G>A	p.D555N	Missense	15/26	-	1
X-47065436-C-A	c.1665C>A	p.D555E	Missense	15/26	-	1
X-47065436-C-G	c.1665C>G	p.D555E	Missense	15/26	-	1
X-47065440-G-A	c.1669G>A	p.E557K	Missense	15/26	-	1
X-47065441-A-T	c.1670A>T	p.E557V	Missense	15/26	-	3
X-47065444-G-A	c.1673G>A	p.R558H	Missense	15/26	-	4
X-47065453-A-C	c.1682A>C	p.D561A	Missense	15/26	-	1
X-47065457-C-A	c.1686C>A	p.D562E	Missense	15/26	-	1
X-47065457-C-G	c.1686C>G	p.D562E	Missense	15/26	-	1
X-47065457-C-T	c.1686C>T	p.D562=	Synonymous	15/26	-	1
X-47065468-A-G	c.1697A>G	p.Q566R	Missense	15/26	-	3
X-47065473-C-G	c.1702C>G	p.L568V	Missense	15/26	-	9
X-47065473-C-T	c.1702C>T	p.L568=	Synonymous	15/26	-	2
X-47065475-A-C	c.1704A>C	p.L568=	Synonymous	15/26	-	1
X-47065475-A-G	c.1704A>G	p.L568=	Synonymous	15/26	-	1
X-47065475-A-T	c.1704A>T	p.L568=	Synonymous	15/26	-	1
X-47065477-A-G	c.1706A>G	p.D569G	Missense	15/26	-	1
X-47065477-A-T	c.1706A>T	p.D569V	Missense	15/26	-	1
X-47065481-C-A	c.1710C>A	p.G570=	Synonymous	15/26	-	1
X-47065481-C-G	c.1710C>G	p.G570=	Synonymous	15/26	-	1
X-47065481-C-T	c.1710C>T	p.G570=	Synonymous	15/26	-	2
X-47065492-C-A	c.1721C>A	p.A574D	Missense	15/26	-	1
X-47065494-C-A	c.1723C>A	p.L575M	Missense	15/26	-	1
X-47065494-C-T	c.1723C>T	p.L575=	Synonymous	15/26	-	4
X-47065494-CT-TA	c.1723_1724delinsTA	p.L575*	Nonsense	15/26	-	1
X-47065495-T-A	c.1724T>A	p.L575Q	Missense	15/26	-	1
X-47065498-A-C	c.1727A>C	p.D576A	Missense	15/26	-	1
X-47065501-A-G	c.1730A>G	p.N577S	Missense	15/26	-	1
X-47065502-C-A	c.1731C>A	p.N577K	Missense	15/26	-	1
X-47065502-C-G	c.1731C>G	p.N577K	Missense	15/26	-	1
X-47065502-C-T	c.1731C>T	p.N577=	Synonymous	15/26	-	9
X-47065504-T-C	c.1733T>C	p.V578A	Missense	15/26	-	1
X-47065509-G-A	c.1738G>A	p.A580T	Missense	15/26	-	2
X-47065509-G-T	c.1738G>T	p.A580S	Missense	15/26	-	4
X-47065513-G-A	c.1741+1G>A	-	IntronicSNV	-	15/25	1
X-47065514-T-G	c.1741+2T>G	-	IntronicSNV	-	15/25	2
X-47065636-G-C	c.1742-11G>C	-	IntronicSNV	-	15/25	1
X-47065649-A-G	c.1744A>G	p.M582V	Missense	16/26	-	1
X-47065650-T-C	c.1745T>C	p.M582T	Missense	16/26	-	1
X-47065653-A-G	c.1748A>G	p.Y583C	Missense	16/26	-	2
X-47065655-A-C	c.1750A>C	p.M584L	Missense	16/26	-	5
X-47065655-A-G	c.1750A>G	p.M584V	Missense	16/26	-	1
X-47065655-A-T	c.1750A>T	p.M584L	Missense	16/26	-	7
X-47065659-A-C	c.1754A>C	p.D585A	Missense	16/26	-	1
X-47065660-C-A	c.1755C>A	p.D585E	Missense	16/26	-	1
X-47065660-C-G	c.1755C>G	p.D585E	Missense	16/26	-	1
X-47065662-G-A	c.1757G>A	p.R586H	Missense	16/26	-	2
X-47065665-G-A	c.1760G>A	p.R587H	Missense	16/26	-	3
X-47065667-T-C	c.1762T>C	p.C588R	Missense	16/26	-	2
X-47065669-T-C	c.1764T>C	p.C588=	Synonymous	16/26	-	1
X-47065672-C-G	c.1767C>G	p.V589=	Synonymous	16/26	-	2
X-47065674-A-G	c.1769A>G	p.Y590C	Missense	16/26	-	2
X-47065680-G-A	c.1775G>A	p.R592Q	Missense	16/26	-	1
X-47065684-G-A	c.1779G>A	p.K593=	Synonymous	16/26	-	1
X-47065694-G-A	c.1789G>A	p.E597K	Missense	16/26	-	1
X-47065695-A-C	c.1790A>C	p.E597A	Missense	16/26	-	1
X-47065702-C-A	c.1797C>A	p.G599=	Synonymous	16/26	-	1
X-47065702-C-G	c.1797C>G	p.G599=	Synonymous	16/26	-	1
X-47065702-C-T	c.1797C>T	p.G599=	Synonymous	16/26	-	2
X-47065710-G-A	c.1805G>A	p.G602D	Missense	16/26	-	1
X-47065712-A-T	c.1807A>T	p.T603S	Missense	16/26	-	1
X-47065713-C-G	c.1808C>G	p.T603S	Missense	16/26	-	1
X-47065717-A-G	c.1812A>G	p.K604=	Synonymous	16/26	-	1
X-47065718-G-A	c.1813G>A	p.G605S	Missense	16/26	-	1
X-47065722-A-T	c.1817A>T	p.N606I	Missense	16/26	-	1
X-47065728-A-G	c.1823A>G	p.Q608R	Missense	16/26	-	1
X-47065729-G-C	c.1824G>C	p.Q608H	Missense	16/26	-	1
X-47065729-G-T	c.1824G>T	p.Q608H	Missense	16/26	-	1
X-47065730-G-A	c.1825G>A	p.V609M	Missense	16/26	-	1
X-47065730-G-T	c.1825G>T	p.V609L	Missense	16/26	-	1
X-47065730-GTG-ATC	c.1825_1827delinsATC	p.V609I	Missense	16/26	-	1
X-47065733-GTG-ATC	c.1828_1830delinsATC	p.V610I	Missense	16/26	-	1
X-47065735-G-A	c.1830G>A	p.V610=	Synonymous	16/26	-	1
X-47065735-G-C	c.1830G>C	p.V610=	Synonymous	16/26	-	1
X-47065735-G-T	c.1830G>T	p.V610=	Synonymous	16/26	-	1
X-47065736-A-G	c.1831A>G	p.I611V	Missense	16/26	-	1
X-47065740-C-G	c.1835C>G	p.P612R	Missense	16/26	-	1
X-47065740-C-T	c.1835C>T	p.P612L	Missense	16/26	-	1
X-47065742-T-A	c.1837T>A	p.F613I	Missense	16/26	-	1
X-47065744-C-T	c.1839C>T	p.F613=	Synonymous	16/26	-	2
X-47065745-CCT-C	c.1840_1841del	p.L614Dfs*12	Frameshift	16/26	-	1
X-47065753-G-C	c.1848G>C	p.E616D	Missense	16/26	-	1
X-47065753-G-T	c.1848G>T	p.E616D	Missense	16/26	-	1
X-47065756-G-A	c.1851G>A	p.S617=	Synonymous	16/26	-	1
X-47065760-AG-CC	c.1855_1856delinsCC	p.S619P	Missense	16/26	-	1
X-47065766-A-G	c.1861A>G	p.S621G	Missense	16/26	-	1
X-47065766-A-T	c.1861A>T	p.S621C	Missense	16/26	-	3
X-47065766-A-C	c.1861A>C	p.S621R	Missense	16/26	-	1
X-47065768-C-A	c.1863C>A	p.S621R	Missense	16/26	-	1
X-47065768-C-G	c.1863C>G	p.S621R	Missense	16/26	-	1
X-47065772-GA-CG	c.1867_1868delinsCG	p.D623R	Missense	16/26	-	1
X-47065778-C-T	c.1873C>T	p.P625S	Missense	16/26	-	1
X-47065781-G-T	c.1876G>T	p.E626*	Nonsense	16/26	-	1
X-47065780-TGA-T	c.1878_1879del	p.K627Vfs*12	Frameshift	16/26	-	1
X-47065786-G-A	c.1881G>A	p.K627=	Synonymous	16/26	-	1
X-47065788-C-T	c.1883C>T	p.S628F	Missense	16/26	-	4
X-47065792-C-T	c.1887C>T	p.I629=	Synonymous	16/26	-	3
X-47065794-C-T	c.1889C>T	p.P630L	Missense	16/26	-	2
X-47065798-C-G	c.1893C>G	p.I631M	Missense	16/26	-	1
X-47065799-T-A	c.1894T>A	p.C632S	Missense	16/26	-	2
X-47065799-TG-GC	c.1894_1895delinsGC	p.C632A	Missense	16/26	-	1
X-47065800-G-C	c.1895G>C	p.C632S	Missense	16/26	-	2
X-47065800-G-A	c.1895G>A	p.C632Y	Missense	16/26	-	1
X-47065801-T-C	c.1896T>C	p.C632=	Synonymous	16/26	-	1
X-47065802-A-G	c.1897A>G	p.T633A	Missense	16/26	-	1
X-47065809-A-G	c.1904A>G	p.K635R	Missense	16/26	-	1
X-47065810-G-A	c.1905G>A	p.K635=	Synonymous	16/26	-	1
X-47065816-C-T	c.1911C>T	p.F637=	Synonymous	16/26	-	1
X-47065820-A-G	c.1915A>G	p.N639D	Missense	16/26	-	1
X-47065828-C-A	c.1923C>A	p.I641=	Synonymous	16/26	-	1
X-47065828-C-T	c.1923C>T	p.I641=	Synonymous	16/26	-	1
X-47065841-C-T	c.1936C>T	p.Q646*	Nonsense	16/26	-	1
X-47065903-G-A	c.1938+60G>A	-	IntronicSNV	-	16/25	1
X-47066042-AT-A	c.1938+208del	-	IntronicDeletion	-	16/25	1
X-47066330-C-A	c.1938+487C>A	-	IntronicSNV	-	16/25	1
X-47066330-C-T	c.1938+487C>T	-	IntronicSNV	-	16/25	1
X-47066374-C-A	c.1938+531C>A	-	IntronicSNV	-	16/25	1
X-47068426-G-A	c.1939-596G>A	-	IntronicSNV	-	16/25	1
X-47068744-G-A	c.1939-278G>A	-	IntronicSNV	-	16/25	1
X-47068813-A-T	c.1939-209A>T	-	IntronicSNV	-	16/25	1
X-47068863-A-G	c.1939-159A>G	-	IntronicSNV	-	16/25	1
X-47068911-G-A	c.1939-111G>A	-	IntronicSNV	-	16/25	1
X-47068968-G-A	c.1939-54G>A	-	IntronicSNV	-	16/25	1
X-47068981-G-A	c.1939-41G>A	-	IntronicSNV	-	16/25	1
X-47069008-T-A	c.1939-14T>A	-	IntronicSNV	-	16/25	1
X-47069022-T-G	c.1939T>G	p.W647G	Missense	17/26	-	1
X-47069023-G-A	c.1940G>A	p.W647*	Nonsense	17/26	-	1
X-47069028-C-A	c.1945C>A	p.R649=	Synonymous	17/26	-	1
X-47069030-G-A	c.1947G>A	p.R649=	Synonymous	17/26	-	1
X-47069030-G-C	c.1947G>C	p.R649=	Synonymous	17/26	-	1
X-47069029-G-A	c.1946G>A	p.R649Q	Missense	17/26	-	1
X-47069030-G-T	c.1947G>T	p.R649=	Synonymous	17/26	-	2
X-47069046-CT-TA	c.1963_1964delinsTA	p.L655Y	Missense	17/26	-	1
X-47069053-A-C	c.1970A>C	p.K657T	Missense	17/26	-	1
X-47069054-G-A	c.1971G>A	p.K657=	Synonymous	17/26	-	2
X-47069075-C-T	c.1992C>T	p.N664=	Synonymous	17/26	-	1
X-47069078-G-C	c.1995G>C	p.Q665H	Missense	17/26	-	1
X-47069078-G-T	c.1995G>T	p.Q665H	Missense	17/26	-	1
X-47069079-T-A	c.1996T>A	p.Y666N	Missense	17/26	-	1
X-47069086-C-T	c.2003C>T	p.T668I	Missense	17/26	-	4
X-47069327-A-C	c.2004A>C	p.T668=	Synonymous	18/26	-	1
X-47069327-A-G	c.2004A>G	p.T668=	Synonymous	18/26	-	1
X-47069327-A-T	c.2004A>T	p.T668=	Synonymous	18/26	-	1
X-47069336-G-A	c.2013G>A	p.K671=	Synonymous	18/26	-	1
X-47069336-G-C	c.2013G>C	p.K671N	Missense	18/26	-	1
X-47069336-G-T	c.2013G>T	p.K671N	Missense	18/26	-	1
X-47069340-G-A	c.2017G>A	p.V673M	Missense	18/26	-	1
X-47069346-C-T	c.2023C>T	p.R675*	Nonsense	18/26	-	3
X-47069347-G-A	c.2024G>A	p.R675Q	Missense	18/26	-	2
X-47069352-CTG-TTT	c.2029_2031delinsTTT	p.L677F	Missense	18/26	-	1
X-47069355-C-T	c.2032C>T	p.R678W	Missense	18/26	-	1
X-47069356-G-A	c.2033G>A	p.R678Q	Missense	18/26	-	1
X-47069356-GG-AT	c.2033_2034delinsAT	p.R678H	Missense	18/26	-	1
X-47069359-T-A	c.2036T>A	p.L679Q	Missense	18/26	-	1
X-47069358-C-T	c.2035C>T	p.L679=	Synonymous	18/26	-	2
X-47069360-G-A	c.2037G>A	p.L679=	Synonymous	18/26	-	2
X-47069360-G-C	c.2037G>C	p.L679=	Synonymous	18/26	-	3
X-47069360-G-T	c.2037G>T	p.L679=	Synonymous	18/26	-	2
X-47069364-G-A	c.2041G>A	p.G681S	Missense	18/26	-	1
X-47069365-G-A	c.2042G>A	p.G681D	Missense	18/26	-	1
X-47069367-A-G	c.2044A>G	p.T682A	Missense	18/26	-	1
X-47069368-C-A	c.2045C>A	p.T682N	Missense	18/26	-	1
X-47069368-C-T	c.2045C>T	p.T682I	Missense	18/26	-	1
X-47069370-C-G	c.2047C>G	p.Q683E	Missense	18/26	-	1
X-47069374-C-T	c.2051C>T	p.P684L	Missense	18/26	-	1
X-47069375-C-A	c.2052C>A	p.P684=	Synonymous	18/26	-	2
X-47069375-C-G	c.2052C>G	p.P684=	Synonymous	18/26	-	2
X-47069375-C-T	c.2052C>T	p.P684=	Synonymous	18/26	-	3
X-47069388-G-A	c.2065G>A	p.E689K	Missense	18/26	-	1
X-47069391-G-A	c.2068G>A	p.A690T	Missense	18/26	-	1
X-47069399-G-C	c.2076G>C	p.Q692H	Missense	18/26	-	1
X-47069399-G-T	c.2076G>T	p.Q692H	Missense	18/26	-	1
X-47069400-C-A	c.2077C>A	p.R693S	Missense	18/26	-	4
X-47069400-C-T	c.2077C>T	p.R693C	Missense	18/26	-	2
X-47069401-G-A	c.2078G>A	p.R693H	Missense	18/26	-	2
X-47069409-G-C	c.2086G>C	p.V696L	Missense	18/26	-	1
X-47069409-G-T	c.2086G>T	p.V696L	Missense	18/26	-	1
X-47069412-CT-TC	c.2089_2090delinsTC	p.L697S	Missense	18/26	-	1
X-47069419-G-A	c.2096G>A	p.R699Q	Missense	18/26	-	1
X-47069419-G-T	c.2096G>T	p.R699L	Missense	18/26	-	1
X-47069422-C-T	c.2099C>T	p.P700L	Missense	18/26	-	1
X-47069425-A-G	c.2102A>G	p.Q701R	Missense	18/26	-	1
X-47069427-AC-GG	c.2104_2105delinsGG	p.T702G	Missense	18/26	-	1
X-47069427-GA-G	c.2104del	p.T702Pfs*6	Frameshift	18/26	-	1
X-47069430-T-G	c.2107T>G	p.W703G	Missense	18/26	-	1
X-47069442-G-A	c.2119G>A	p.V707M	Missense	18/26	-	1
X-47069451-G-A	c.2128G>A	p.A710T	Missense	18/26	-	1
X-47069454-TG-AC	c.2131_2132delinsAC	p.C711T	Missense	18/26	-	1
X-47069457-C-A	c.2134C>A	p.H712N	Missense	18/26	-	1
X-47069462-C-A	c.2139C>A	p.H713Q	Missense	18/26	-	1
X-47069468-C-A	c.2145C>A	p.H715Q	Missense	18/26	-	1
X-47069468-C-G	c.2145C>G	p.H715Q	Missense	18/26	-	1
X-47069469-A-G	c.2146A>G	p.T716A	Missense	18/26	-	1
X-47069474-G-A	c.2151G>A	p.Q717=	Synonymous	18/26	-	1
X-47069479-C-A	c.2156C>A	p.S719*	Nonsense	18/26	-	1
X-47069479-C-T	c.2156C>T	p.S719L	Missense	18/26	-	4
X-47069480-G-A	c.2157G>A	p.S719=	Synonymous	18/26	-	2
X-47069491-G-A	c.2168G>A	p.R723Q	Missense	18/26	-	2
X-47069491-G-T	c.2168G>T	p.R723L	Missense	18/26	-	1
X-47069502-C-G	c.2179C>G	p.H727D	Missense	18/26	-	1
X-47069510-C-T	c.2187C>T	p.F729=	Synonymous	18/26	-	1
X-47069512-C-G	c.2189C>G	p.P730R	Missense	18/26	-	1
X-47069517-G-C	c.2194G>C	p.D732H	Missense	18/26	-	1
X-47070247-A-C	c.2206A>C	p.S736R	Missense	19/26	-	1
X-47070249-C-A	c.2208C>A	p.S736R	Missense	19/26	-	1
X-47070249-C-G	c.2208C>G	p.S736R	Missense	19/26	-	1
X-47070251-C-T	c.2210C>T	p.S737L	Missense	19/26	-	3
X-47070254-G-A	c.2213G>A	p.G738E	Missense	19/26	-	3
X-47070259-C-T	c.2218C>T	p.P740S	Missense	19/26	-	4
X-47070260-C-T	c.2219C>T	p.P740L	Missense	19/26	-	1
X-47070261-G-A	c.2220G>A	p.P740=	Synonymous	19/26	-	2
X-47070261-G-T	c.2220G>T	p.P740=	Synonymous	19/26	-	2
X-47070262-T-C	c.2221T>C	p.F741L	Missense	19/26	-	1
X-47070266-G-A	c.2225G>A	p.W742*	Nonsense	19/26	-	1
X-47070267-G-A	c.2226G>A	p.W742*	Nonsense	19/26	-	1
X-47070269-C-G	c.2228C>G	p.S743C	Missense	19/26	-	1
X-47070278-A-C	c.2237A>C	p.K746T	Missense	19/26	-	1
X-47070279-A-G	c.2238A>G	p.K746=	Synonymous	19/26	-	1
X-47070280-C-T	c.2239C>T	p.R747C	Missense	19/26	-	2
X-47070281-G-A	c.2240G>A	p.R747H	Missense	19/26	-	1
X-47070281-G-T	c.2240G>T	p.R747L	Missense	19/26	-	1
X-47070286-C-T	c.2245C>T	p.P749S	Missense	19/26	-	1
X-47070287-C-T	c.2246C>T	p.P749L	Missense	19/26	-	1
X-47070291-C-T	c.2250C>T	p.H750=	Synonymous	19/26	-	1
X-47070293-C-T	c.2252C>T	p.P751L	Missense	19/26	-	1
X-47070294-G-A	c.2253G>A	p.P751=	Synonymous	19/26	-	4
X-47070294-G-C	c.2253G>C	p.P751=	Synonymous	19/26	-	1
X-47070294-G-T	c.2253G>T	p.P751=	Synonymous	19/26	-	1
X-47070297-C-A	c.2256C>A	p.L752=	Synonymous	19/26	-	2
X-47070300-C-A	c.2259C>A	p.T753=	Synonymous	19/26	-	4
X-47070300-C-G	c.2259C>G	p.T753=	Synonymous	19/26	-	3
X-47070300-C-T	c.2259C>T	p.T753=	Synonymous	19/26	-	3
X-47070307-G-A	c.2266G>A	p.V756I	Missense	19/26	-	1
X-47070311-A-G	c.2270A>G	p.N757S	Missense	19/26	-	1
X-47070312-C-T	c.2271C>T	p.N757=	Synonymous	19/26	-	1
X-47070444-C-G	c.2284C>G	p.L762V	Missense	20/26	-	1
X-47070444-C-T	c.2284C>T	p.L762=	Synonymous	20/26	-	4
X-47070446-G-A	c.2286G>A	p.L762=	Synonymous	20/26	-	4
X-47070446-G-C	c.2286G>C	p.L762=	Synonymous	20/26	-	3
X-47070446-G-T	c.2286G>T	p.L762=	Synonymous	20/26	-	3
X-47070449-C-A	c.2289C>A	p.D763E	Missense	20/26	-	1
X-47070451-A-G	c.2291A>G	p.Y764C	Missense	20/26	-	1
X-47070456-A-C	c.2296A>C	p.M766L	Missense	20/26	-	1
X-47070459-G-A	c.2299G>A	p.A767T	Missense	20/26	-	2
X-47070460-C-T	c.2300C>T	p.A767V	Missense	20/26	-	1
X-47070465-G-A	c.2305G>A	p.A769T	Missense	20/26	-	2
X-47070468-A-C	c.2308A>C	p.N770H	Missense	20/26	-	3
X-47070469-A-G	c.2309A>G	p.N770S	Missense	20/26	-	2
X-47070470-C-T	c.2310C>T	p.N770=	Synonymous	20/26	-	2
X-47070479-C-T	c.2319C>T	p.A773=	Synonymous	20/26	-	1
X-47070488-C-T	c.2328C>T	p.Y776=	Synonymous	20/26	-	1
X-47070493-T-C	c.2333T>C	p.L778P	Missense	20/26	-	1
X-47070495-A-G	c.2335A>G	p.T779A	Missense	20/26	-	1
X-47070496-C-G	c.2336C>G	p.T779R	Missense	20/26	-	1
X-47070509-C-A	c.2349C>A	p.D783E	Missense	20/26	-	1
X-47070509-C-G	c.2349C>G	p.D783E	Missense	20/26	-	1
X-47070510-C-T	c.2350C>T	p.R784*	Nonsense	20/26	-	1
X-47070511-G-A	c.2351G>A	p.R784Q	Missense	20/26	-	2
X-47070511-GA-AT	c.2351_2352delinsAT	p.R784H	Missense	20/26	-	1
X-47070513-G-A	c.2353G>A	p.A785T	Missense	20/26	-	1
X-47070515-T-G	c.2355T>G	p.A785=	Synonymous	20/26	-	1
X-47070519-G-A	c.2359G>A	p.V787M	Missense	20/26	-	1
X-47070524-C-T	c.2364C>T	p.A788=	Synonymous	20/26	-	1
X-47070525-A-G	c.2365A>G	p.T789A	Missense	20/26	-	1
X-47070526-C-T	c.2366C>T	p.T789I	Missense	20/26	-	1
X-47070540-G-C	c.2380G>C	p.V794L	Missense	20/26	-	1
X-47070540-G-T	c.2380G>T	p.V794L	Missense	20/26	-	1
X-47070553-A-T	c.2393A>T	p.E798V	Missense	20/26	-	1
X-47070556-T-C	c.2396T>C	p.F799S	Missense	20/26	-	1
X-47070570-G-A	c.2410G>A	p.G804S	Missense	20/26	-	1
X-47070570-G-T	c.2410G>T	p.G804C	Missense	20/26	-	1
X-47070571-G-A	c.2411G>A	p.G804D	Missense	20/26	-	3
X-47070572-C-T	c.2412C>T	p.G804=	Synonymous	20/26	-	1
X-47070573-G-A	c.2413G>A	p.V805I	Missense	20/26	-	5
X-47070573-G-C	c.2413G>C	p.V805L	Missense	20/26	-	3
X-47070578-G-A	c.2418G>A	p.K806=	Synonymous	20/26	-	1
X-47070582-C-T	c.2422C>T	p.H808Y	Missense	20/26	-	1
X-47070590-T-A	c.2430T>A	p.S810=	Synonymous	20/26	-	1
X-47070590-T-C	c.2430T>C	p.S810=	Synonymous	20/26	-	1
X-47070590-T-G	c.2430T>G	p.S810=	Synonymous	20/26	-	1
X-47070591-G-C	c.2431G>C	p.D811H	Missense	20/26	-	1
X-47070595-A-T	c.2435A>T	p.Q812L	Missense	20/26	-	1
X-47070599-G-C	c.2439G>C	p.E813D	Missense	20/26	-	1
X-47070599-G-T	c.2439G>T	p.E813D	Missense	20/26	-	1
X-47070600-CT-GC	c.2440_2441delinsGC	p.L814A	Missense	20/26	-	1
X-47070605-G-T	c.2445G>T	p.Q815H	Missense	20/26	-	1
X-47070609-G-A	c.2449G>A	p.A817T	Missense	20/26	-	2
X-47070610-C-T	c.2450C>T	p.A817V	Missense	20/26	-	1
X-47070613-A-G	c.2453A>G	p.N818S	Missense	20/26	-	1
X-47070615-G-A	c.2455G>A	p.A819T	Missense	20/26	-	1
X-47070616-C-T	c.2456C>T	p.A819V	Missense	20/26	-	2
X-47070620-T-A	c.2460T>A	p.S820=	Synonymous	20/26	-	1
X-47070620-T-C	c.2460T>C	p.S820=	Synonymous	20/26	-	1
X-47070620-T-G	c.2460T>G	p.S820=	Synonymous	20/26	-	1
X-47070624-G-A	c.2464G>A	p.D822N	Missense	20/26	-	5
X-47070625-G-A	c.2464+1G>A	-	IntronicSNV	-	20/25	1
X-47070955-C-T	c.2464+331C>T	-	IntronicSNV	-	20/25	1
X-47071825-G-A	c.2467G>A	p.D823N	Missense	21/26	-	4
X-47071826-A-G	c.2468A>G	p.D823G	Missense	21/26	-	4
X-47071828-AGT-TGA	c.2470_2472delinsTGA	p.S824*	Nonsense	21/26	-	2
X-47071828-A-T	c.2470A>T	p.S824C	Missense	21/26	-	1
X-47071831-C-T	c.2473C>T	p.R825C	Missense	21/26	-	2
X-47071832-GT-AA	c.2474_2475delinsAA	p.R825Q	Missense	21/26	-	1
X-47071836-A-T	c.2478A>T	p.L826=	Synonymous	21/26	-	1
X-47071840-G-A	c.2482G>A	p.E828K	Missense	21/26	-	1
X-47071843-C-T	c.2485C>T	p.L829F	Missense	21/26	-	1
X-47071848-A-G	c.2490A>G	p.K830=	Synonymous	21/26	-	1
X-47071850-C-T	c.2492C>T	p.A831V	Missense	21/26	-	1
X-47071859-C-T	c.2501C>T	p.P834L	Missense	21/26	-	1
X-47071862-G-A	c.2504G>A	p.S835N	Missense	21/26	-	1
X-47071863-C-T	c.2505C>T	p.S835=	Synonymous	21/26	-	2
X-47071864-C-T	c.2506C>T	p.P836S	Missense	21/26	-	1
X-47071868-A-G	c.2510A>G	p.D837G	Missense	21/26	-	1
X-47071872-G-C	c.2514G>C	p.K838N	Missense	21/26	-	1
X-47071872-G-T	c.2514G>T	p.K838N	Missense	21/26	-	1
X-47071873-C-G	c.2515C>G	p.L839V	Missense	21/26	-	1
X-47071875-C-T	c.2517C>T	p.L839=	Synonymous	21/26	-	2
X-47071876-C-T	c.2518C>T	p.P840S	Missense	21/26	-	1
X-47071879-GGA-AGC	c.2521_2523delinsAGC	p.G841S	Missense	21/26	-	1
X-47071880-G-A	c.2522G>A	p.G841E	Missense	21/26	-	1
X-47071883-T-C	c.2525T>C	p.F842S	Missense	21/26	-	1
X-47071887-G-A	c.2529G>A	p.K843=	Synonymous	21/26	-	1
X-47071898-T-C	c.2540T>C	p.I847T	Missense	21/26	-	1
X-47071903-TT-GC	c.2545_2546delinsGC	p.F849A	Missense	21/26	-	1
X-47072170-G-C	c.2554G>C	p.D852H	Missense	22/26	-	1
X-47072183-A-G	c.2567A>G	p.N856S	Missense	22/26	-	2
X-47072185-T-C	c.2569T>C	p.F857L	Missense	22/26	-	1
X-47072185-T-G	c.2569T>G	p.F857V	Missense	22/26	-	2
X-47072187-T-A	c.2571T>A	p.F857L	Missense	22/26	-	1
X-47072187-T-G	c.2571T>G	p.F857L	Missense	22/26	-	1
X-47072193-G-A	c.2577G>A	p.M859I	Missense	22/26	-	1
X-47072193-G-C	c.2577G>C	p.M859I	Missense	22/26	-	1
X-47072193-G-T	c.2577G>T	p.M859I	Missense	22/26	-	1
X-47072199-C-A	c.2583C>A	p.F861L	Missense	22/26	-	1
X-47072203-GTG-ATC	c.2587_2589delinsATC	p.V863I	Missense	22/26	-	1
X-47072209-G-A	c.2593G>A	p.A865T	Missense	22/26	-	1
X-47072213-C-A	c.2597C>A	p.S866Y	Missense	22/26	-	1
X-47072220-C-A	c.2604C>A	p.L868=	Synonymous	22/26	-	1
X-47072224-G-T	c.2608G>T	p.A870S	Missense	22/26	-	1
X-47072228-A-G	c.2612A>G	p.E871G	Missense	22/26	-	2
X-47072229-A-C	c.2613A>C	p.E871D	Missense	22/26	-	1
X-47072229-A-T	c.2613A>T	p.E871D	Missense	22/26	-	1
X-47072237-A-G	c.2621A>G	p.D874G	Missense	22/26	-	3
X-47072242-C-G	c.2626C>G	p.P876A	Missense	22/26	-	1
X-47072253-C-CTT	c.2637_2638insTT	p.R880Ffs*7	Frameshift	22/26	-	1
X-47072254-CGG-AGC	c.2638_2640delinsAGC	p.R880S	Missense	22/26	-	1
X-47072254-C-T	c.2638C>T	p.R880W	Missense	22/26	-	3
X-47072255-G-A	c.2639G>A	p.R880Q	Missense	22/26	-	3
X-47072256-G-A	c.2640G>A	p.R880=	Synonymous	22/26	-	1
X-47072260-A-C	c.2644A>C	p.K882Q	Missense	22/26	-	1
X-47072262-G-A	c.2646G>A	p.K882=	Synonymous	22/26	-	1
X-47072265-G-A	c.2646+3G>A	-	IntronicSNV	-	22/25	1
X-47072268-G-A	c.2646+6G>A	-	IntronicSNV	-	22/25	1
X-47072390-G-T	c.2648G>T	p.S883I	Missense	23/26	-	2
X-47072392-A-T	c.2650A>T	p.K884*	Nonsense	23/26	-	1
X-47072393-A-T	c.2651A>T	p.K884M	Missense	23/26	-	1
X-47072402-C-A	c.2660C>A	p.A887E	Missense	23/26	-	1
X-47072404-G-A	c.2662G>A	p.G888R	Missense	23/26	-	1
X-47072404-G-C	c.2662G>C	p.G888R	Missense	23/26	-	1
X-47072404-G-T	c.2662G>T	p.G888W	Missense	23/26	-	1
X-47072409-G-A	c.2667G>A	p.K889=	Synonymous	23/26	-	3
X-47072411-T-C	c.2669T>C	p.I890T	Missense	23/26	-	1
X-47072419-G-C	c.2677G>C	p.A893P	Missense	23/26	-	1
X-47072422-A-T	c.2680A>T	p.I894F	Missense	23/26	-	1
X-47072423-T-G	c.2681T>G	p.I894S	Missense	23/26	-	1
X-47072429-C-T	c.2687C>T	p.T896M	Missense	23/26	-	1
X-47072430-G-A	c.2688G>A	p.T896=	Synonymous	23/26	-	4
X-47072430-G-C	c.2688G>C	p.T896=	Synonymous	23/26	-	3
X-47072430-G-T	c.2688G>T	p.T896=	Synonymous	23/26	-	3
X-47072437-G-A	c.2695G>A	p.A899T	Missense	23/26	-	1
X-47072440-G-C	c.2698G>C	p.A900P	Missense	23/26	-	1
X-47072441-C-T	c.2699C>T	p.A900V	Missense	23/26	-	2
X-47072442-C-T	c.2700C>T	p.A900=	Synonymous	23/26	-	1
X-47072443-GTG-ATC	c.2701_2703delinsATC	p.V901I	Missense	23/26	-	1
X-47072446-G-A	c.2704G>A	p.V902I	Missense	23/26	-	2
X-47072449-G-A	c.2707G>A	p.G903S	Missense	23/26	-	1
X-47072454-T-A	c.2712T>A	p.L904=	Synonymous	23/26	-	1
X-47072454-T-C	c.2712T>C	p.L904=	Synonymous	23/26	-	1
X-47072454-T-G	c.2712T>G	p.L904=	Synonymous	23/26	-	1
X-47072456-T-G	c.2714T>G	p.V905G	Missense	23/26	-	1
X-47072475-G-A	c.2733G>A	p.K911=	Synonymous	23/26	-	1
X-47072479-G-C	c.2737G>C	p.V913L	Missense	23/26	-	1
X-47072479-G-T	c.2737G>T	p.V913L	Missense	23/26	-	1
X-47072484-G-C	c.2742G>C	p.Q914H	Missense	23/26	-	1
X-47072491-C-A	c.2749C>A	p.R917=	Synonymous	23/26	-	1
X-47072496-G-C	c.2754G>C	p.Q918H	Missense	23/26	-	1
X-47072496-G-T	c.2754G>T	p.Q918H	Missense	23/26	-	1
X-47072503-T-C	c.2761T>C	p.S921P	Missense	23/26	-	1
X-47072509-A-G	c.2767A>G	p.K923E	Missense	23/26	-	1
X-47072530-G-C	c.2788G>C	p.A930P	Missense	23/26	-	1
X-47072531-C-T	c.2789C>T	p.A930V	Missense	23/26	-	1
X-47072555-A-G	c.2813A>G	p.E938G	Missense	23/26	-	4
X-47072557-C-T	c.2815C>T	p.P939S	Missense	23/26	-	1
X-47072558-C-T	c.2816C>T	p.P939L	Missense	23/26	-	1
X-47072562-T-A	c.2820T>A	p.L940=	Synonymous	23/26	-	1
X-47072562-T-C	c.2820T>C	p.L940=	Synonymous	23/26	-	1
X-47072562-T-G	c.2820T>G	p.L940=	Synonymous	23/26	-	1
X-47072566-G-A	c.2824G>A	p.A942T	Missense	23/26	-	6
X-47072579-A-C	c.2837A>C	p.Q946P	Missense	23/26	-	1
X-47073738-G-A	c.2851G>A	p.E951K	Missense	24/26	-	3
X-47073739-A-G	c.2852A>G	p.E951G	Missense	24/26	-	1
X-47073741-T-A	c.2854T>A	p.W952R	Missense	24/26	-	1
X-47073741-T-C	c.2854T>C	p.W952R	Missense	24/26	-	1
X-47073745-C-T	c.2858C>T	p.T953I	Missense	24/26	-	1
X-47073750-T-G	c.2863T>G	p.W955G	Missense	24/26	-	1
X-47073751-G-C	c.2864G>C	p.W955S	Missense	24/26	-	1
X-47073756-C-T	c.2869C>T	p.R957C	Missense	24/26	-	2
X-47073758-C-T	c.2871C>T	p.R957=	Synonymous	24/26	-	2
X-47073763-A-G	c.2876A>G	p.E959G	Missense	24/26	-	1
X-47073765-G-T	c.2878G>T	p.V960L	Missense	24/26	-	1
X-47073766-T-C	c.2879T>C	p.V960A	Missense	24/26	-	1
X-47073771-G-T	c.2884G>T	p.G962W	Missense	24/26	-	1
X-47073777-C-T	c.2890C>T	p.Q964*	Nonsense	24/26	-	1
X-47073778-A-T	c.2891A>T	p.Q964L	Missense	24/26	-	3
X-47073780-C-G	c.2893C>G	p.P965A	Missense	24/26	-	1
X-47073782-T-A	c.2895T>A	p.P965=	Synonymous	24/26	-	1
X-47073783-A-G	c.2896A>G	p.N966D	Missense	24/26	-	2
X-47073788-T-G	c.2901T>G	p.G967=	Synonymous	24/26	-	1
X-47073795-A-G	c.2908A>G	p.M970V	Missense	24/26	-	1
X-47073797-G-A	c.2910G>A	p.M970I	Missense	24/26	-	1
X-47073801-C-G	c.2914C>G	p.L972V	Missense	24/26	-	3
X-47073812-C-T	c.2925C>T	p.F975=	Synonymous	24/26	-	2
X-47073813-C-A	c.2926C>A	p.L976I	Missense	24/26	-	1
X-47073816-G-A	c.2929G>A	p.D977N	Missense	24/26	-	1
X-47073820-A-G	c.2933A>G	p.Y978C	Missense	24/26	-	1
X-47073821-T-C	c.2934T>C	p.Y978=	Synonymous	24/26	-	1
X-47073939-G-A	c.2944G>A	p.E982K	Missense	25/26	-	3
X-47073947-A-G	c.2952A>G	p.K984=	Synonymous	25/26	-	3
X-47073951-G-C	c.2956G>C	p.E986Q	Missense	25/26	-	1
X-47073957-AC-TG	c.2962_2963delinsTG	p.T988C	Missense	25/26	-	1
X-47073972-G-C	c.2977G>C	p.G993R	Missense	25/26	-	1
X-47073974-C-T	c.2979C>T	p.G993=	Synonymous	25/26	-	1
X-47073983-G-A	c.2988G>A	p.M996I	Missense	25/26	-	7
X-47073983-G-C	c.2988G>C	p.M996I	Missense	25/26	-	5
X-47073983-G-T	c.2988G>T	p.M996I	Missense	25/26	-	5
X-47073985-T-C	c.2990T>C	p.L997P	Missense	25/26	-	1
X-47073986-C-G	c.2991C>G	p.L997=	Synonymous	25/26	-	1
X-47074002-C-T	c.3007C>T	p.P1003S	Missense	25/26	-	1
X-47074003-C-A	c.3008C>A	p.P1003Q	Missense	25/26	-	1
X-47074005-AG-A	c.3010del	p.A1004Lfs*12	Frameshift	25/26	-	1
X-47074009-C-T	c.3014C>T	p.A1005V	Missense	25/26	-	1
X-47074029-G-A	c.3034G>A	p.D1012N	Missense	25/26	-	1
X-47074032-C-G	c.3037C>G	p.Q1013E	Missense	25/26	-	2
X-47074036-C-T	c.3041C>T	p.P1014L	Missense	25/26	-	1
X-47074204-T-C	c.3053T>C	p.I1018T	Missense	26/26	-	1
X-47074208-G-A	c.3057G>A	p.V1019=	Synonymous	26/26	-	2
X-47074208-G-C	c.3057G>C	p.V1019=	Synonymous	26/26	-	2
X-47074208-G-T	c.3057G>T	p.V1019=	Synonymous	26/26	-	3
X-47074219-C-G	c.3068C>G	p.S1023W	Missense	26/26	-	1
X-47074219-C-T	c.3068C>T	p.S1023L	Missense	26/26	-	2
X-47074220-G-A	c.3069G>A	p.S1023=	Synonymous	26/26	-	1
X-47074225-G-A	c.3074G>A	p.R1025Q	Missense	26/26	-	2
X-47074231-T-C	c.3080T>C	p.L1027P	Missense	26/26	-	1
X-47074236-C-T	c.3085C>T	p.R1029C	Missense	26/26	-	1
X-47074242-G-T	c.3091G>T	p.V1031L	Missense	26/26	-	1
X-47074244-G-A	c.3093G>A	p.V1031=	Synonymous	26/26	-	3
X-47074244-G-C	c.3093G>C	p.V1031=	Synonymous	26/26	-	1
X-47074244-G-T	c.3093G>T	p.V1031=	Synonymous	26/26	-	1
X-47074245-C-T	c.3094C>T	p.R1032W	Missense	26/26	-	1
X-47074246-G-C	c.3095G>C	p.R1032P	Missense	26/26	-	2
X-47074248-G-A	c.3097G>A	p.A1033T	Missense	26/26	-	2
X-47074249-C-G	c.3098C>G	p.A1033G	Missense	26/26	-	1
X-47074257-C-G	c.3106C>G	p.L1036V	Missense	26/26	-	1
X-47074261-A-C	c.3110A>C	p.E1037A	Missense	26/26	-	1
X-47074261-A-T	c.3110A>T	p.E1037V	Missense	26/26	-	1
X-47074266-T-C	c.3115T>C	p.C1039R	Missense	26/26	-	1
X-47074269-TG-AC	c.3118_3119delinsAC	p.C1040T	Missense	26/26	-	1
X-47074271-T-C	c.3120T>C	p.C1040=	Synonymous	26/26	-	1
X-47074274-C-A	c.3123C>A	p.N1041K	Missense	26/26	-	1
X-47074274-C-G	c.3123C>G	p.N1041K	Missense	26/26	-	1
X-47074275-G-A	c.3124G>A	p.D1042N	Missense	26/26	-	5
X-47074277-C-T	c.3126C>T	p.D1042=	Synonymous	26/26	-	1
X-47074278-G-A	c.3127G>A	p.E1043K	Missense	26/26	-	1
X-47074278-G-T	c.3127G>T	p.E1043*	Nonsense	26/26	-	1
X-47074284-G-A	c.3133G>A	p.G1045S	Missense	26/26	-	2
X-47074285-G-C	c.3134G>C	p.G1045A	Missense	26/26	-	1
X-47074286-C-A	c.3135C>A	p.G1045=	Synonymous	26/26	-	3
X-47074286-C-G	c.3135C>G	p.G1045=	Synonymous	26/26	-	1
X-47074286-C-T	c.3135C>T	p.G1045=	Synonymous	26/26	-	1
X-47074287-G-A	c.3136G>A	p.E1046K	Missense	26/26	-	2
X-47074291-A-C	c.3140A>C	p.D1047A	Missense	26/26	-	1
X-47074295-C-T	c.3144C>T	p.V1048=	Synonymous	26/26	-	1
X-47074297-A-C	c.3146A>C	p.E1049A	Missense	26/26	-	1
X-47074311-CGA-TGG	c.3160_3162delinsTGG	p.R1054W	Missense	26/26	-	1
X-47074315-A-G	c.3164A>G	p.Y1055C	Missense	26/26	-	1
X-47074317-A-G	c.3166A>G	p.T1056A	Missense	26/26	-	1