APAF1

APAF1 apoptotic peptidase activating factor 1

Annotation transcript: NM_181861.2

1059 unique variant annotations were identified in 432 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
12-99039326-C-G	c.-329C>G	-	5_prime_UTR_variant	1/27	-	1
12-99039467-G-T	c.-188G>T	-	5_prime_UTR_variant	1/27	-	1
12-99041905-G-C	c.-41-192G>C	-	IntronicSNV	-	1/26	2
12-99042144-G-A	c.7G>A	p.A3T	Missense	2/27	-	1
12-99042145-C-T	c.8C>T	p.A3V	Missense	2/27	-	1
12-99042149-A-C	c.12A>C	p.K4N	Missense	2/27	-	1
12-99042149-A-G	c.12A>G	p.K4=	Synonymous	2/27	-	1
12-99042149-A-T	c.12A>T	p.K4N	Missense	2/27	-	1
12-99042150-G-A	c.13G>A	p.A5T	Missense	2/27	-	1
12-99042151-C-T	c.14C>T	p.A5V	Missense	2/27	-	3
12-99042153-C-G	c.16C>G	p.R6G	Missense	2/27	-	1
12-99042153-C-T	c.16C>T	p.R6*	Nonsense	2/27	-	1
12-99042154-G-A	c.17G>A	p.R6Q	Missense	2/27	-	4
12-99042159-T-G	c.22T>G	p.C8G	Missense	2/27	-	1
12-99042160-G-A	c.23G>A	p.C8Y	Missense	2/27	-	2
12-99042165-CT-GC	c.28_29delinsGC	p.L10A	Missense	2/27	-	1
12-99042165-CTT-GAG	c.28_30delinsGAG	p.L10E	Missense	2/27	-	1
12-99042168-C-T	c.31C>T	p.Q11*	Nonsense	2/27	-	1
12-99042173-T-G	c.36T>G	p.H12Q	Missense	2/27	-	1
12-99042177-G-A	c.40G>A	p.E14K	Missense	2/27	-	1
12-99042180-GC-CA	c.43_44delinsCA	p.A15H	Missense	2/27	-	1
12-99042181-C-A	c.44C>A	p.A15D	Missense	2/27	-	1
12-99042183-C-A	c.46C>A	p.L16M	Missense	2/27	-	1
12-99042183-CTG-TTT	c.46_48delinsTTT	p.L16F	Missense	2/27	-	1
12-99042192-G-A	c.55G>A	p.D19N	Missense	2/27	-	1
12-99042192-G-C	c.55G>C	p.D19H	Missense	2/27	-	1
12-99042196-T-C	c.59T>C	p.I20T	Missense	2/27	-	1
12-99042204-TC-CG	c.67_68delinsCG	p.S23R	Missense	2/27	-	2
12-99042205-C-G	c.68C>G	p.S23C	Missense	2/27	-	1
12-99042205-C-T	c.68C>T	p.S23F	Missense	2/27	-	1
12-99042208-A-G	c.71A>G	p.Y24C	Missense	2/27	-	2
12-99042210-AT-GC	c.73_74delinsGC	p.I25A	Missense	2/27	-	1
12-99042213-A-G	c.76A>G	p.M26V	Missense	2/27	-	1
12-99042216-G-A	c.79G>A	p.D27N	Missense	2/27	-	2
12-99042219-C-T	c.82C>T	p.H28Y	Missense	2/27	-	2
12-99042226-T-C	c.89T>C	p.I30T	Missense	2/27	-	1
12-99042229-G-A	c.92G>A	p.S31N	Missense	2/27	-	4
12-99042231-G-T	c.94G>T	p.D32Y	Missense	2/27	-	1
12-99042234-G-T	c.97G>T	p.G33*	Nonsense	2/27	-	1
12-99042235-G-A	c.98G>A	p.G33E	Missense	2/27	-	1
12-99042238-T-C	c.101T>C	p.F34S	Missense	2/27	-	1
12-99042240-T-C	c.103T>C	p.L35=	Synonymous	2/27	-	1
12-99042242-A-G	c.105A>G	p.L35=	Synonymous	2/27	-	1
12-99042236-A-AT	c.104dup	p.L35Ffs*12	Frameshift	2/27	-	1
12-99042244-C-T	c.107C>T	p.T36I	Missense	2/27	-	1
12-99042248-A-G	c.111A>G	p.I37M	Missense	2/27	-	1
12-99042249-TC-AG	c.112_113delinsAG	p.S38R	Missense	2/27	-	1
12-99042250-C-T	c.113C>T	p.S38L	Missense	2/27	-	1
12-99042255-G-A	c.118G>A	p.E40K	Missense	2/27	-	1
12-99042256-A-T	c.119A>T	p.E40V	Missense	2/27	-	3
12-99042257-G-C	c.120G>C	p.E40D	Missense	2/27	-	1
12-99042257-G-T	c.120G>T	p.E40D	Missense	2/27	-	1
12-99042256-AG-A	c.121del	p.E41Kfs*3	Frameshift	2/27	-	1
12-99042258-G-A	c.121G>A	p.E41K	Missense	2/27	-	1
12-99042258-GA-CC	c.121_122delinsCC	p.E41P	Missense	2/27	-	1
12-99042264-GTA-TTT	c.127_129delinsTTT	p.V43F	Missense	2/27	-	1
12-99042267-AGA-CAT	c.130_132delinsCAT	p.R44H	Missense	2/27	-	1
12-99042267-AGA-TGT	c.130_132delinsTGT	p.R44C	Missense	2/27	-	1
12-99042267-AG-CA	c.130_131delinsCA	p.R44Q	Missense	2/27	-	1
12-99042268-G-A	c.131G>A	p.R44K	Missense	2/27	-	2
12-99042271-A-G	c.134A>G	p.N45S	Missense	2/27	-	1
12-99042272-T-C	c.135T>C	p.N45=	Synonymous	2/27	-	1
12-99042273-G-A	c.136G>A	p.E46K	Missense	2/27	-	2
12-99042405-C-T	c.140C>T	p.P47L	Missense	3/27	-	1
12-99042410-C-G	c.145C>G	p.Q49E	Missense	3/27	-	1
12-99042414-A-T	c.149A>T	p.Q50L	Missense	3/27	-	2
12-99042419-AGA-CAT	c.154_156delinsCAT	p.R52H	Missense	3/27	-	1
12-99042419-AGA-TGT	c.154_156delinsTGT	p.R52C	Missense	3/27	-	1
12-99042422-G-A	c.157G>A	p.A53T	Missense	3/27	-	3
12-99042422-GC-AT	c.157_158delinsAT	p.A53I	Missense	3/27	-	1
12-99042425-GC-CG	c.160_161delinsCG	p.A54R	Missense	3/27	-	1
12-99042437-A-G	c.172A>G	p.K58E	Missense	3/27	-	1
12-99042441-T-C	c.176T>C	p.M59T	Missense	3/27	-	1
12-99042442-G-T	c.177G>T	p.M59I	Missense	3/27	-	1
12-99042444-T-C	c.179T>C	p.I60T	Missense	3/27	-	1
12-99042446-C-G	c.181C>G	p.L61V	Missense	3/27	-	1
12-99042449-A-G	c.184A>G	p.K62E	Missense	3/27	-	1
12-99042453-A-G	c.188A>G	p.K63R	Missense	3/27	-	1
12-99042448-TA-T	c.189del	p.D64Ifs*43	Frameshift	3/27	-	1
12-99042454-A-C	c.189A>C	p.K63N	Missense	3/27	-	1
12-99042455-G-A	c.190G>A	p.D64N	Missense	3/27	-	1
12-99042455-GA-TG	c.190_191delinsTG	p.D64C	Missense	3/27	-	1
12-99042456-A-T	c.191A>T	p.D64V	Missense	3/27	-	1
12-99042458-A-G	c.193A>G	p.N65D	Missense	3/27	-	1
12-99042459-A-G	c.194A>G	p.N65S	Missense	3/27	-	1
12-99042465-C-G	c.200C>G	p.S67C	Missense	3/27	-	1
12-99042466-C-A	c.201C>A	p.S67=	Synonymous	3/27	-	1
12-99042470-G-A	c.205G>A	p.V69I	Missense	3/27	-	2
12-99042470-G-T	c.205G>T	p.V69L	Missense	3/27	-	2
12-99042473-TCA-AAC	c.208_210delinsAAC	p.S70N	Missense	3/27	-	1
12-99042482-AA-GC	c.217_218delinsGC	p.N73A	Missense	3/27	-	1
12-99042482-A-C	c.217A>C	p.N73H	Missense	3/27	-	1
12-99042482-A-G	c.217A>G	p.N73D	Missense	3/27	-	2
12-99042485-G-T	c.220G>T	p.A74S	Missense	3/27	-	1
12-99042492-T-C	c.227T>C	p.L76P	Missense	3/27	-	2
12-99042494-C-A	c.229C>A	p.H77N	Missense	3/27	-	2
12-99042497-G-T	c.232G>T	p.E78*	Nonsense	3/27	-	1
12-99042501-G-T	c.236G>T	p.G79V	Missense	3/27	-	3
12-99042503-T-C	c.238T>C	p.Y80H	Missense	3/27	-	1
12-99042504-A-T	c.239A>T	p.Y80F	Missense	3/27	-	1
12-99042506-AA-GG	c.241_242delinsGG	p.K81G	Missense	3/27	-	1
12-99042508-A-T	c.243A>T	p.K81N	Missense	3/27	-	1
12-99042509-G-A	c.244G>A	p.D82N	Missense	3/27	-	2
12-99042509-GA-CG	c.244_245delinsCG	p.D82R	Missense	3/27	-	1
12-99042512-C-T	c.247C>T	p.L83F	Missense	3/27	-	10
12-99042515-G-A	c.250G>A	p.A84T	Missense	3/27	-	1
12-99042516-C-T	c.251C>T	p.A84V	Missense	3/27	-	1
12-99042536-A-G	c.271A>G	p.I91V	Missense	3/27	-	3
12-99042547-C-T	c.282C>T	p.V94=	Synonymous	3/27	-	1
12-99042549-C-G	c.284C>G	p.S95C	Missense	3/27	-	3
12-99042552-C-T	c.287C>T	p.S96F	Missense	3/27	-	1
12-99042561-G-A	c.296G>A	p.G99D	Missense	3/27	-	1
12-99042563-A-G	c.298A>G	p.K100E	Missense	3/27	-	1
12-99042564-A-G	c.299A>G	p.K100R	Missense	3/27	-	1
12-99042565-A-C	c.300A>C	p.K100N	Missense	3/27	-	1
12-99042565-A-T	c.300A>T	p.K100N	Missense	3/27	-	1
12-99042566-G-A	c.301G>A	p.D101N	Missense	3/27	-	1
12-99042569-T-G	c.304T>G	p.S102A	Missense	3/27	-	2
12-99042570-CA-GT	c.305_306delinsGT	p.S102C	Missense	3/27	-	1
12-99042570-C-T	c.305C>T	p.S102L	Missense	3/27	-	1
12-99042572-G-A	c.307G>A	p.V103I	Missense	3/27	-	1
12-99042578-GGA-TGT	c.313_315delinsTGT	p.G105C	Missense	3/27	-	1
12-99042578-G-T	c.313G>T	p.G105*	Nonsense	3/27	-	1
12-99042581-A-G	c.316A>G	p.I106V	Missense	3/27	-	1
12-99042585-C-A	c.320C>A	p.T107N	Missense	3/27	-	1
12-99042585-C-T	c.320C>T	p.T107I	Missense	3/27	-	1
12-99042588-CG-TT	c.323_324delinsTT	p.S108F	Missense	3/27	-	1
12-99042588-C-T	c.323C>T	p.S108L	Missense	3/27	-	1
12-99042590-T-C	c.325T>C	p.Y109H	Missense	3/27	-	1
12-99042592-T-A	c.327T>A	p.Y109*	Nonsense	3/27	-	2
12-99042592-T-G	c.327T>G	p.Y109*	Nonsense	3/27	-	1
12-99043207-A-G	c.329-58A>G	-	IntronicSNV	-	3/26	7
12-99043268-G-A	c.332G>A	p.R111K	Missense	4/27	-	1
12-99043271-C-T	c.335C>T	p.T112I	Missense	4/27	-	1
12-99043275-C-A	c.339C>A	p.V113=	Synonymous	4/27	-	1
12-99043275-C-G	c.339C>G	p.V113=	Synonymous	4/27	-	1
12-99043275-C-T	c.339C>T	p.V113=	Synonymous	4/27	-	1
12-99043276-C-A	c.340C>A	p.L114M	Missense	4/27	-	1
12-99043282-G-C	c.346G>C	p.E116Q	Missense	4/27	-	1
12-99043283-A-C	c.347A>C	p.E116A	Missense	4/27	-	1
12-99043285-G-C	c.349G>C	p.G117R	Missense	4/27	-	1
12-99043285-GG-CA	c.349_350delinsCA	p.G117H	Missense	4/27	-	1
12-99043293-A-G	c.357A>G	p.V119=	Synonymous	4/27	-	1
12-99043295-C-T	c.359C>T	p.P120L	Missense	4/27	-	3
12-99043305-A-G	c.369A>G	p.P123=	Synonymous	4/27	-	1
12-99043309-G-A	c.373G>A	p.V125I	Missense	4/27	-	1
12-99043312-TTT-GAG	c.376_378delinsGAG	p.F126E	Missense	4/27	-	1
12-99043318-A-C	c.382A>C	p.T128P	Missense	4/27	-	1
12-99043318-A-T	c.382A>T	p.T128S	Missense	4/27	-	1
12-99043321-A-C	c.385A>C	p.R129=	Synonymous	4/27	-	1
12-99043323-G-A	c.387G>A	p.R129=	Synonymous	4/27	-	1
12-99043328-A-G	c.392A>G	p.K131R	Missense	4/27	-	1
12-99043328-A-T	c.392A>T	p.K131M	Missense	4/27	-	5
12-99043340-C-T	c.404C>T	p.A135V	Missense	4/27	-	2
12-99043345-C-T	c.409C>T	p.Q137*	Nonsense	4/27	-	1
12-99043354-C-G	c.418C>G	p.L140V	Missense	4/27	-	1
12-99043354-C-T	c.418C>T	p.L140F	Missense	4/27	-	2
12-99043361-A-G	c.425A>G	p.K142R	Missense	4/27	-	1
12-99043368-A-C	c.432A>C	p.K144N	Missense	4/27	-	2
12-99043368-A-T	c.432A>T	p.K144N	Missense	4/27	-	2
12-99043369-G-A	c.433G>A	p.G145S	Missense	4/27	-	1
12-99043370-GT-AG	c.434_435delinsAG	p.G145E	Missense	4/27	-	1
12-99043371-T-A	c.435T>A	p.G145=	Synonymous	4/27	-	2
12-99043371-T-C	c.435T>C	p.G145=	Synonymous	4/27	-	3
12-99043371-T-G	c.435T>G	p.G145=	Synonymous	4/27	-	2
12-99043372-G-A	c.436G>A	p.E146K	Missense	4/27	-	1
12-99043373-A-G	c.437A>G	p.E146G	Missense	4/27	-	1
12-99043373-A-T	c.437A>T	p.E146V	Missense	4/27	-	5
12-99043379-G-C	c.443G>C	p.G148A	Missense	4/27	-	1
12-99043393-CA-GC	c.457_458delinsGC	p.H153A	Missense	4/27	-	1
12-99043393-C-T	c.457C>T	p.H153Y	Missense	4/27	-	1
12-99043399-A-G	c.463A>G	p.M155V	Missense	4/27	-	2
12-99043406-G-A	c.470G>A	p.G157D	Missense	4/27	-	1
12-99043412-G-T	c.476G>T	p.G159V	Missense	4/27	-	1
12-99043415-A-G	c.479A>G	p.K160R	Missense	4/27	-	2
12-99043416-G-A	c.480G>A	p.K160=	Synonymous	4/27	-	1
12-99043418-C-G	c.482C>G	p.S161C	Missense	4/27	-	3
12-99043418-C-T	c.482C>T	p.S161F	Missense	4/27	-	2
12-99043420-G-A	c.484G>A	p.V162I	Missense	4/27	-	1
12-99043431-A-C	c.495A>C	p.A165=	Synonymous	4/27	-	1
12-99043432-G-A	c.496G>A	p.E166K	Missense	4/27	-	1
12-99043435-G-A	c.499G>A	p.A167T	Missense	4/27	-	1
12-99043444-G-T	c.508G>T	p.D170Y	Missense	4/27	-	2
12-99043446-T-G	c.510T>G	p.D170E	Missense	4/27	-	1
12-99043447-C-T	c.511C>T	p.H171Y	Missense	4/27	-	7
12-99043450-T-C	c.514T>C	p.S172P	Missense	4/27	-	1
12-99043451-C-G	c.515C>G	p.S172C	Missense	4/27	-	3
12-99043451-C-T	c.515C>T	p.S172F	Missense	4/27	-	4
12-99043459-G-T	c.523G>T	p.E175*	Nonsense	4/27	-	1
12-99043461-A-C	c.525A>C	p.E175D	Missense	4/27	-	1
12-99043461-A-T	c.525A>T	p.E175D	Missense	4/27	-	1
12-99043534-C-T	c.526+72C>T	-	IntronicSNV	-	4/26	1
12-99043683-A-T	c.526+221A>T	-	IntronicSNV	-	4/26	1
12-99052945-C-T	c.534C>T	p.F178=	Synonymous	5/27	-	1
12-99052946-C-T	c.535C>T	p.P179S	Missense	5/27	-	1
12-99052959-A-G	c.548A>G	p.H183R	Missense	5/27	-	2
12-99052968-C-A	c.557C>A	p.S186*	Nonsense	5/27	-	1
12-99052968-C-G	c.557C>G	p.S186*	Nonsense	5/27	-	1
12-99052973-G-A	c.562G>A	p.G188R	Missense	5/27	-	1
12-99052973-G-C	c.562G>C	p.G188R	Missense	5/27	-	1
12-99052974-G-T	c.563G>T	p.G188V	Missense	5/27	-	1
12-99052975-GA-G	c.567del	p.K189Nfs*8	Frameshift	5/27	-	1
12-99052982-G-A	c.571G>A	p.D191N	Missense	5/27	-	1
12-99052984-C-T	c.573C>T	p.D191=	Synonymous	5/27	-	1
12-99052985-A-G	c.574A>G	p.K192E	Missense	5/27	-	3
12-99052986-A-C	c.575A>C	p.K192T	Missense	5/27	-	2
12-99052986-A-G	c.575A>G	p.K192R	Missense	5/27	-	1
12-99052992-G-A	c.581G>A	p.G194E	Missense	5/27	-	2
12-99052992-G-T	c.581G>T	p.G194V	Missense	5/27	-	2
12-99052995-T-A	c.584T>A	p.L195H	Missense	5/27	-	1
12-99053004-A-G	c.593A>G	p.K198R	Missense	5/27	-	1
12-99053011-G-C	c.600G>C	p.Q200H	Missense	5/27	-	1
12-99053011-G-T	c.600G>T	p.Q200H	Missense	5/27	-	1
12-99053022-C-G	c.611C>G	p.T204R	Missense	5/27	-	1
12-99053024-C-A	c.613C>A	p.R205=	Synonymous	5/27	-	1
12-99053024-C-T	c.613C>T	p.R205W	Missense	5/27	-	1
12-99053025-G-A	c.614G>A	p.R205Q	Missense	5/27	-	8
12-99053030-G-A	c.619G>A	p.D207N	Missense	5/27	-	1
12-99053033-C-T	c.622C>T	p.Q208*	Nonsense	5/27	-	8
12-99053038-T-C	c.627T>C	p.D209=	Synonymous	5/27	-	1
12-99053039-G-T	c.628G>T	p.E210*	Nonsense	5/27	-	1
12-99053045-T-C	c.634T>C	p.F212L	Missense	5/27	-	2
12-99053045-T-G	c.634T>G	p.F212V	Missense	5/27	-	1
12-99053047-T-A	c.636T>A	p.F212L	Missense	5/27	-	1
12-99053047-T-G	c.636T>G	p.F212L	Missense	5/27	-	1
12-99053049-C-T	c.638C>T	p.S213F	Missense	5/27	-	2
12-99053055-G-A	c.644G>A	p.R215K	Missense	5/27	-	1
12-99053078-G-A	c.667G>A	p.A223T	Missense	5/27	-	1
12-99053079-C-A	c.668C>A	p.A223D	Missense	5/27	-	1
12-99053082-A-G	c.671A>G	p.K224R	Missense	5/27	-	1
12-99053083-A-C	c.672A>C	p.K224N	Missense	5/27	-	1
12-99053083-A-G	c.672A>G	p.K224=	Synonymous	5/27	-	1
12-99053085-A-C	c.674A>C	p.D225A	Missense	5/27	-	1
12-99053087-C-A	c.676C>A	p.R226S	Missense	5/27	-	2
12-99053087-C-G	c.676C>G	p.R226G	Missense	5/27	-	1
12-99053087-C-T	c.676C>T	p.R226C	Missense	5/27	-	3
12-99053088-G-T	c.677G>T	p.R226L	Missense	5/27	-	1
12-99053089-T-A	c.678T>A	p.R226=	Synonymous	5/27	-	1
12-99053089-T-C	c.678T>C	p.R226=	Synonymous	5/27	-	1
12-99053089-T-G	c.678T>G	p.R226=	Synonymous	5/27	-	1
12-99053093-C-T	c.682C>T	p.R228C	Missense	5/27	-	5
12-99053094-G-A	c.683G>A	p.R228H	Missense	5/27	-	4
12-99053108-C-T	c.697C>T	p.R233C	Missense	5/27	-	3
12-99053109-G-A	c.698G>A	p.R233H	Missense	5/27	-	1
12-99053110-C-A	c.699C>A	p.R233=	Synonymous	5/27	-	1
12-99053110-C-G	c.699C>G	p.R233=	Synonymous	5/27	-	1
12-99053110-C-T	c.699C>T	p.R233=	Synonymous	5/27	-	1
12-99053120-AG-CA	c.709_710delinsCA	p.R237Q	Missense	5/27	-	1
12-99056086-G-A	c.711-148G>A	-	IntronicSNV	-	5/26	1
12-99056125-T-A	c.711-109T>A	-	IntronicSNV	-	5/26	2
12-99056125-T-G	c.711-109T>G	-	IntronicSNV	-	5/26	2
12-99056236-C-T	c.713C>T	p.S238F	Missense	6/27	-	1
12-99056246-C-G	c.723C>G	p.I241M	Missense	6/27	-	1
12-99056249-G-C	c.726G>C	p.L242F	Missense	6/27	-	1
12-99056249-G-T	c.726G>T	p.L242F	Missense	6/27	-	1
12-99056253-G-A	c.730G>A	p.D244N	Missense	6/27	-	1
12-99056253-G-C	c.730G>C	p.D244H	Missense	6/27	-	3
12-99056253-G-T	c.730G>T	p.D244Y	Missense	6/27	-	1
12-99056254-A-G	c.731A>G	p.D244G	Missense	6/27	-	1
12-99056256-G-A	c.733G>A	p.V245I	Missense	6/27	-	1
12-99056263-ACTCTTGGGTGTTGAAAGCTTTTGACAGTCAGTGT-A	c.742_775del	p.S248Rfs*15	Frameshift	6/27	-	1
12-99056265-T-A	c.742T>A	p.S248T	Missense	6/27	-	1
12-99056266-TC-T	c.743del	p.S248Ffs*4	Frameshift	6/27	-	1
12-99056269-G-A	c.746G>A	p.W249*	Nonsense	6/27	-	1
12-99056270-G-A	c.747G>A	p.W249*	Nonsense	6/27	-	1
12-99056277-AA-GC	c.754_755delinsGC	p.K252A	Missense	6/27	-	2
12-99056277-A-G	c.754A>G	p.K252E	Missense	6/27	-	1
12-99056278-A-G	c.755A>G	p.K252R	Missense	6/27	-	2
12-99056281-C-T	c.758C>T	p.A253V	Missense	6/27	-	1
12-99056284-T-G	c.761T>G	p.F254C	Missense	6/27	-	1
12-99056286-G-A	c.763G>A	p.D255N	Missense	6/27	-	1
12-99056286-G-T	c.763G>T	p.D255Y	Missense	6/27	-	1
12-99056288-C-A	c.765C>A	p.D255E	Missense	6/27	-	1
12-99056288-C-G	c.765C>G	p.D255E	Missense	6/27	-	1
12-99056290-G-A	c.767G>A	p.S256N	Missense	6/27	-	1
12-99056290-G-T	c.767G>T	p.S256I	Missense	6/27	-	1
12-99056292-C-G	c.769C>G	p.Q257E	Missense	6/27	-	2
12-99056294-G-A	c.771G>A	p.Q257=	Synonymous	6/27	-	1
12-99056295-T-A	c.772T>A	p.C258S	Missense	6/27	-	1
12-99056296-G-C	c.773G>C	p.C258S	Missense	6/27	-	1
12-99056296-G-A	c.773G>A	p.C258Y	Missense	6/27	-	1
12-99056300-GA-TG	c.777_778delinsTG	p.Q259_I260delinsHV	MultiAAMissense	6/27	-	1
12-99056300-G-T	c.777G>T	p.Q259H	Missense	6/27	-	1
12-99056301-A-G	c.778A>G	p.I260V	Missense	6/27	-	1
12-99056301-A-T	c.778A>T	p.I260F	Missense	6/27	-	1
12-99056304-C-T	c.781C>T	p.L261F	Missense	6/27	-	1
12-99056305-T-A	c.782T>A	p.L261H	Missense	6/27	-	1
12-99056307-C-T	c.784C>T	p.L262F	Missense	6/27	-	2
12-99056313-A-C	c.790A>C	p.T264P	Missense	6/27	-	1
12-99056316-A-G	c.793A>G	p.R265G	Missense	6/27	-	1
12-99056316-AGA-TGG	c.793_795delinsTGG	p.R265W	Missense	6/27	-	1
12-99056316-A-T	c.793A>T	p.R265*	Nonsense	6/27	-	1
12-99056319-G-T	c.796G>T	p.D266Y	Missense	6/27	-	6
12-99056325-AG-GA	c.802_803delinsGA	p.S268D	Missense	6/27	-	1
12-99056325-AG-GC	c.802_803delinsGC	p.S268A	Missense	6/27	-	1
12-99056325-AGT-A	c.805_806del	p.V269Yfs*8	Frameshift	6/27	-	1
12-99056328-G-C	c.805G>C	p.V269L	Missense	6/27	-	2
12-99056331-ACA-TGT	c.808_810inv	p.T270C	Missense	6/27	-	1
12-99056337-T-G	c.814T>G	p.S272A	Missense	6/27	-	1
12-99056338-C-T	c.815C>T	p.S272L	Missense	6/27	-	1
12-99056345-G-A	c.822G>A	p.M274I	Missense	6/27	-	2
12-99056346-G-T	c.823G>T	p.G275C	Missense	6/27	-	1
12-99056359-C-T	c.823+13C>T	-	IntronicSNV	-	6/26	1
12-99056457-T-A	c.828T>A	p.P276=	Synonymous	7/27	-	1
12-99056457-T-C	c.828T>C	p.P276=	Synonymous	7/27	-	1
12-99056457-T-G	c.828T>G	p.P276=	Synonymous	7/27	-	1
12-99056470-C-A	c.841C>A	p.P281T	Missense	7/27	-	1
12-99056474-T-A	c.845T>A	p.V282E	Missense	7/27	-	1
12-99056483-C-T	c.854C>T	p.S285F	Missense	7/27	-	2
12-99056494-G-A	c.865G>A	p.E289K	Missense	7/27	-	1
12-99056494-G-C	c.865G>C	p.E289Q	Missense	7/27	-	1
12-99056495-A-G	c.866A>G	p.E289G	Missense	7/27	-	1
12-99056496-A-C	c.867A>C	p.E289D	Missense	7/27	-	1
12-99056496-A-T	c.867A>T	p.E289D	Missense	7/27	-	1
12-99056497-A-G	c.868A>G	p.K290E	Missense	7/27	-	1
12-99056498-A-G	c.869A>G	p.K290R	Missense	7/27	-	4
12-99056506-G-A	c.877G>A	p.E293K	Missense	7/27	-	1
12-99056506-G-C	c.877G>C	p.E293Q	Missense	7/27	-	1
12-99056515-TC-CG	c.886_887delinsCG	p.S296R	Missense	7/27	-	1
12-99056518-C-T	c.889C>T	p.L297F	Missense	7/27	-	1
12-99056532-G-A	c.903G>A	p.M301I	Missense	7/27	-	1
12-99056532-G-C	c.903G>C	p.M301I	Missense	7/27	-	1
12-99056532-G-T	c.903G>T	p.M301I	Missense	7/27	-	1
12-99056537-A-G	c.908A>G	p.K303R	Missense	7/27	-	1
12-99056537-AG-A	c.910del	p.A304Qfs*11	Frameshift	7/27	-	1
12-99056539-G-A	c.910G>A	p.A304T	Missense	7/27	-	2
12-99056541-A-G	c.912A>G	p.A304=	Synonymous	7/27	-	1
12-99056543-A-G	c.914A>G	p.D305G	Missense	7/27	-	1
12-99056548-C-A	c.919C>A	p.P307T	Missense	7/27	-	1
12-99056547-GC-G	c.920del	p.P307Qfs*8	Frameshift	7/27	-	1
12-99056551-G-A	c.922G>A	p.E308K	Missense	7/27	-	2
12-99056551-G-C	c.922G>C	p.E308Q	Missense	7/27	-	1
12-99056552-A-T	c.923A>T	p.E308V	Missense	7/27	-	1
12-99056558-C-T	c.929C>T	p.A310V	Missense	7/27	-	1
12-99056564-G-A	c.935G>A	p.S312N	Missense	7/27	-	2
12-99056568-TATA-T	c.941_943del	p.I314del	InFrameDeletion	7/27	-	1
12-99056574-A-C	c.945A>C	p.K315N	Missense	7/27	-	2
12-99056574-A-T	c.945A>T	p.K315N	Missense	7/27	-	3
12-99056575-G-A	c.946G>A	p.E316K	Missense	7/27	-	2
12-99056575-G-T	c.946G>T	p.E316*	Nonsense	7/27	-	2
12-99056852-T-C	c.955+268T>C	-	IntronicSNV	-	7/26	1
12-99059137-C-A	c.956-194C>A	-	IntronicSNV	-	7/26	1
12-99059137-C-T	c.956-194C>T	-	IntronicSNV	-	7/26	1
12-99059327-A-T	c.956-4A>T	-	IntronicSNV	-	7/26	1
12-99059334-C-T	c.959C>T	p.S320F	Missense	8/27	-	1
12-99059336-C-T	c.961C>T	p.P321S	Missense	8/27	-	1
12-99059339-C-A	c.964C>A	p.L322I	Missense	8/27	-	1
12-99059345-G-A	c.970G>A	p.V324I	Missense	8/27	-	1
12-99059345-GTA-ATG	c.970_972delinsATG	p.V324M	Missense	8/27	-	1
12-99059348-TC-AA	c.973_974delinsAA	p.S325N	Missense	8/27	-	1
12-99059357-G-A	c.982G>A	p.G328S	UnclassifiedSNV	8/27	-	1
12-99059362-A-C	c.987A>C	p.A329=	Synonymous	8/27	-	2
12-99059362-A-G	c.987A>G	p.A329=	Synonymous	8/27	-	3
12-99059362-A-T	c.987A>T	p.A329=	Synonymous	8/27	-	2
12-99059369-C-T	c.994C>T	p.R332C	Missense	8/27	-	2
12-99059370-G-A	c.995G>A	p.R332H	Missense	8/27	-	1
12-99059375-T-C	c.1000T>C	p.F334L	Missense	8/27	-	1
12-99059377-T-A	c.1002T>A	p.F334L	Missense	8/27	-	1
12-99059377-T-G	c.1002T>G	p.F334L	Missense	8/27	-	1
12-99059379-C-G	c.1004C>G	p.P335R	Missense	8/27	-	2
12-99059384-C-A	c.1009C>A	p.R337S	Missense	8/27	-	1
12-99059385-G-A	c.1010G>A	p.R337H	Missense	8/27	-	1
12-99059401-C-G	c.1026C>G	p.L342=	Synonymous	8/27	-	1
12-99059406-A-G	c.1031A>G	p.Q344R	Missense	8/27	-	1
12-99059411-C-T	c.1036C>T	p.Q346*	Nonsense	8/27	-	1
12-99059421-A-C	c.1046A>C	p.Q349P	Missense	8/27	-	1
12-99059422-G-GT	c.1050dup	p.K351*	Nonsense	8/27	-	1
12-99059430-G-T	c.1055G>T	p.R352I	Missense	8/27	-	2
12-99059434-A-G	c.1059A>G	p.I353M	Missense	8/27	-	1
12-99059435-A-G	c.1060A>G	p.R354G	Missense	8/27	-	1
12-99059437-G-C	c.1062G>C	p.R354S	Missense	8/27	-	1
12-99059437-G-T	c.1062G>T	p.R354S	Missense	8/27	-	1
12-99059445-C-T	c.1070C>T	p.S357L	Missense	8/27	-	4
12-99059446-G-A	c.1071G>A	p.S357=	Synonymous	8/27	-	2
12-99059446-G-C	c.1071G>C	p.S357=	Synonymous	8/27	-	1
12-99059446-G-T	c.1071G>T	p.S357=	Synonymous	8/27	-	1
12-99059453-G-A	c.1078G>A	p.D360N	Missense	8/27	-	2
12-99059454-A-G	c.1079A>G	p.D360G	Missense	8/27	-	1
12-99059461-G-C	c.1086G>C	p.E362D	Missense	8/27	-	1
12-99059461-G-T	c.1086G>T	p.E362D	Missense	8/27	-	1
12-99059465-C-G	c.1090C>G	p.L364V	Missense	8/27	-	2
12-99059471-G-A	c.1096G>A	p.E366K	Missense	8/27	-	1
12-99059483-A-C	c.1108A>C	p.I370L	Missense	8/27	-	1
12-99059483-A-G	c.1108A>G	p.I370V	Missense	8/27	-	1
12-99059483-A-T	c.1108A>T	p.I370L	Missense	8/27	-	1
12-99059486-A-T	c.1111A>T	p.S371C	Missense	8/27	-	2
12-99059489-G-C	c.1114G>C	p.V372L	Missense	8/27	-	1
12-99059493-A-G	c.1118A>G	p.E373G	Missense	8/27	-	1
12-99059499-T-C	c.1124T>C	p.L375P	Missense	8/27	-	1
12-99059502-G-A	c.1127G>A	p.R376K	Missense	8/27	-	1
12-99059507-G-T	c.1132G>T	p.D378Y	Missense	8/27	-	2
12-99059519-T-C	c.1144T>C	p.Y382H	Missense	8/27	-	1
12-99059520-AT-A	c.1147del	p.Y383Tfs*37	Frameshift	8/27	-	1
12-99059537-A-C	c.1162A>C	p.I388L	Missense	8/27	-	1
12-99059540-C-T	c.1165C>T	p.L389F	Missense	8/27	-	1
12-99059546-A-G	c.1171A>G	p.K391E	Missense	8/27	-	1
12-99059548-G-A	c.1173G>A	p.K391=	Synonymous	8/27	-	1
12-99059551-C-T	c.1176C>T	p.D392=	Synonymous	8/27	-	1
12-99059555-A-T	c.1180A>T	p.K394*	Nonsense	8/27	-	1
12-99059556-A-C	c.1181A>C	p.K394T	Missense	8/27	-	1
12-99059556-A-G	c.1181A>G	p.K394R	Missense	8/27	-	1
12-99059900-A-G	c.1195-68A>G	-	IntronicSNV	-	8/26	4
12-99059916-G-A	c.1195-52G>A	-	IntronicSNV	-	8/26	1
12-99059968-GTG-ATC	c.1195_1197delinsATC	p.V399I	Missense	9/27	-	1
12-99059971-T-C	c.1198T>C	p.L400=	Synonymous	9/27	-	1
12-99059974-T-C	c.1201T>C	p.C401R	Missense	9/27	-	3
12-99059977-A-G	c.1204A>G	p.I402V	Missense	9/27	-	1
12-99059980-C-T	c.1207C>T	p.L403F	Missense	9/27	-	2
12-99059986-G-A	c.1213G>A	p.D405N	Missense	9/27	-	2
12-99059993-A-C	c.1220A>C	p.E407A	Missense	9/27	-	1
12-99059997-CT-C	c.1224del	p.E409Kfs*11	Frameshift	9/27	-	1
12-99060002-A-T	c.1229A>T	p.E410V	Missense	9/27	-	3
12-99060003-A-T	c.1230A>T	p.E410D	Missense	9/27	-	1
12-99060005-T-C	c.1232T>C	p.V411A	Missense	9/27	-	6
12-99060017-T-C	c.1244T>C	p.L415P	Missense	9/27	-	1
12-99060022-G-A	c.1249G>A	p.E417K	Missense	9/27	-	1
12-99060031-A-C	c.1258A>C	p.N420H	Missense	9/27	-	1
12-99060038-C-T	c.1265C>T	p.S422F	Missense	9/27	-	2
12-99060049-T-G	c.1276T>G	p.C426G	Missense	9/27	-	1
12-99060055-C-T	c.1282C>T	p.R428W	Missense	9/27	-	1
12-99060056-G-A	c.1283G>A	p.R428Q	Missense	9/27	-	1
12-99060068-C-T	c.1295C>T	p.S432L	Missense	9/27	-	2
12-99060069-G-A	c.1296G>A	p.S432=	Synonymous	9/27	-	1
12-99060070-T-C	c.1297T>C	p.F433L	Missense	9/27	-	1
12-99060073-C-T	c.1300C>T	p.R434C	Missense	9/27	-	1
12-99060074-G-A	c.1301G>A	p.R434H	Missense	9/27	-	5
12-99060100-G-A	c.1327G>A	p.D443N	Missense	9/27	-	7
12-99060109-A-T	c.1336A>T	p.T446S	Missense	9/27	-	2
12-99060111-A-G	c.1338A>G	p.T446=	Synonymous	9/27	-	1
12-99060113-A-G	c.1340A>G	p.E447G	Missense	9/27	-	3
12-99060123-C-G	c.1350C>G	p.C450W	Missense	9/27	-	4
12-99060125-G-A	c.1352G>A	p.S451N	Missense	9/27	-	1
12-99060127-C-G	c.1354C>G	p.Q452E	Missense	9/27	-	1
12-99060130-C-T	c.1357C>T	p.L453F	Missense	9/27	-	3
12-99060350-A-G	c.1362+215A>G	-	IntronicSNV	-	9/26	2
12-99060350-A-T	c.1362+215A>T	-	IntronicSNV	-	9/26	1
12-99061174-G-A	c.1363-117G>A	-	IntronicSNV	-	9/26	1
12-99061275-T-C	c.1363-16T>C	-	IntronicSNV	-	9/26	4
12-99061295-T-C	c.1367T>C	p.L456P	Missense	10/27	-	1
12-99061294-C-T	c.1366C>T	p.L456=	Synonymous	10/27	-	1
12-99061296-A-C	c.1368A>C	p.L456=	Synonymous	10/27	-	1
12-99061296-A-G	c.1368A>G	p.L456=	Synonymous	10/27	-	1
12-99061296-A-T	c.1368A>T	p.L456=	Synonymous	10/27	-	1
12-99061305-G-A	c.1377G>A	p.K459=	Synonymous	10/27	-	1
12-99061315-C-G	c.1387C>G	p.Q463E	Missense	10/27	-	1
12-99061315-C-T	c.1387C>T	p.Q463*	Nonsense	10/27	-	1
12-99061321-C-G	c.1393C>G	p.Q465E	Missense	10/27	-	1
12-99061321-C-T	c.1393C>T	p.Q465*	Nonsense	10/27	-	2
12-99061322-A-G	c.1394A>G	p.Q465R	Missense	10/27	-	1
12-99061323-G-A	c.1395G>A	p.Q465=	Synonymous	10/27	-	1
12-99061324-AGA-CAT	c.1396_1398delinsCAT	p.R466H	Missense	10/27	-	1
12-99061324-A-T	c.1396A>T	p.R466*	Nonsense	10/27	-	2
12-99061325-G-A	c.1397G>A	p.R466K	Missense	10/27	-	1
12-99061325-G-T	c.1397G>T	p.R466I	Missense	10/27	-	1
12-99061331-A-C	c.1403A>C	p.H468P	Missense	10/27	-	1
12-99061337-C-T	c.1409C>T	p.P470L	Missense	10/27	-	1
12-99061338-G-A	c.1410G>A	p.P470=	Synonymous	10/27	-	1
12-99061341-T-C	c.1413T>C	p.H471=	Synonymous	10/27	-	3
12-99061345-C-G	c.1417C>G	p.L473V	Missense	10/27	-	2
12-99061347-T-A	c.1419T>A	p.L473=	Synonymous	10/27	-	1
12-99061347-T-C	c.1419T>C	p.L473=	Synonymous	10/27	-	1
12-99061347-T-G	c.1419T>G	p.L473=	Synonymous	10/27	-	1
12-99061352-C-T	c.1424C>T	p.P475L	UnclassifiedSNV	10/27	-	1
12-99061357-C-T	c.1429C>T	p.Q477*	Nonsense	10/27	-	1
12-99061359-G-GT	c.1431_1432insT	p.E478*	Nonsense	10/27	-	2
12-99061358-AG-A	c.1432del	p.E478Kfs*26	Frameshift	10/27	-	1
12-99061360-G-A	c.1432G>A	p.E478K	Missense	10/27	-	1
12-99061360-G-T	c.1432G>T	p.E478*	Nonsense	10/27	-	1
12-99061362-A-G	c.1434A>G	p.E478=	Synonymous	10/27	-	1
12-99061363-G-A	c.1435G>A	p.D479N	Missense	10/27	-	6
12-99061364-A-G	c.1436A>G	p.D479G	Missense	10/27	-	2
12-99061365-C-A	c.1437C>A	p.D479E	Missense	10/27	-	2
12-99061365-C-G	c.1437C>G	p.D479E	Missense	10/27	-	3
12-99061366-TG-AC	c.1438_1439delinsAC	p.C480T	Missense	10/27	-	1
12-99061367-G-A	c.1439G>A	p.C480Y	Missense	10/27	-	1
12-99061371-G-A	c.1443G>A	p.M481I	Missense	10/27	-	1
12-99061371-G-C	c.1443G>C	p.M481I	Missense	10/27	-	1
12-99061371-G-T	c.1443G>T	p.M481I	Missense	10/27	-	1
12-99061383-C-A	c.1455C>A	p.N485K	Missense	10/27	-	1
12-99061383-C-G	c.1455C>G	p.N485K	Missense	10/27	-	2
12-99061398-C-A	c.1470C>A	p.H490Q	Missense	10/27	-	1
12-99061398-C-G	c.1470C>G	p.H490Q	Missense	10/27	-	1
12-99061402-G-A	c.1474G>A	p.A492T	Missense	10/27	-	1
12-99061403-C-T	c.1475C>T	p.A492V	Missense	10/27	-	1
12-99061408-G-C	c.1480G>C	p.A494P	Missense	10/27	-	1
12-99061409-C-T	c.1481C>T	p.A494V	Missense	10/27	-	2
12-99061503-A-T	c.1494+81A>T	-	IntronicSNV	-	10/26	1
12-99061512-C-T	c.1494+90C>T	-	IntronicSNV	-	10/26	1
12-99061522-G-T	c.1494+100G>T	-	IntronicSNV	-	10/26	1
12-99061532-C-T	c.1494+110C>T	-	IntronicSNV	-	10/26	1
12-99061536-TCC-T	c.1494+114_1494+115del	-	IntronicDeletion	-	10/26	1
12-99061542-TGA-T	c.1494+120_1494+121del	-	IntronicDeletion	-	10/26	1
12-99061543-GAT-G	c.1494+121_1494+122del	-	IntronicDeletion	-	10/26	1
12-99061543-AT-A	c.1494+145del	-	IntronicDeletion	-	10/26	1
12-99064751-G-T	c.1495G>T	p.E499*	Nonsense	11/27	-	1
12-99064761-C-A	c.1505C>A	p.A502D	Missense	11/27	-	1
12-99064761-C-G	c.1505C>G	p.A502G	Missense	11/27	-	1
12-99064768-G-A	c.1512G>A	p.M504I	Missense	11/27	-	1
12-99064768-G-C	c.1512G>C	p.M504I	Missense	11/27	-	1
12-99064768-G-T	c.1512G>T	p.M504I	Missense	11/27	-	1
12-99064770-T-G	c.1514T>G	p.F505C	Missense	11/27	-	1
12-99064775-C-G	c.1519C>G	p.L507V	Missense	11/27	-	1
12-99064775-CTG-TTT	c.1519_1521delinsTTT	p.L507F	Missense	11/27	-	1
12-99064778-G-A	c.1522G>A	p.D508N	Missense	11/27	-	3
12-99064782-G-A	c.1526G>A	p.W509*	Nonsense	11/27	-	1
12-99064783-G-A	c.1527G>A	p.W509*	Nonsense	11/27	-	1
12-99064789-A-G	c.1533A>G	p.K511=	Synonymous	11/27	-	1
12-99064795-A-C	c.1539A>C	p.K513N	Missense	11/27	-	2
12-99064795-A-T	c.1539A>T	p.K513N	Missense	11/27	-	1
12-99064796-A-G	c.1540A>G	p.T514A	Missense	11/27	-	1
12-99064810-C-A	c.1554C>A	p.G518=	Synonymous	11/27	-	1
12-99064817-CA-GC	c.1561_1562delinsGC	p.H521A	Missense	11/27	-	1
12-99064818-A-G	c.1562A>G	p.H521R	Missense	11/27	-	1
12-99064819-T-C	c.1563T>C	p.H521=	Synonymous	11/27	-	1
12-99064820-CTG-ATC	c.1564_1566delinsATC	p.L522I	Missense	11/27	-	1
12-99064829-G-T	c.1573G>T	p.E525*	Nonsense	11/27	-	2
12-99064841-T-A	c.1585T>A	p.Y529N	Missense	11/27	-	1
12-99064844-AGA-TGT	c.1588_1590delinsTGT	p.R530C	Missense	11/27	-	1
12-99064844-A-C	c.1588A>C	p.R530=	Synonymous	11/27	-	1
12-99064846-A-G	c.1590A>G	p.R530=	Synonymous	11/27	-	1
12-99064849-T-C	c.1593T>C	p.H531=	Synonymous	11/27	-	1
12-99064850-A-G	c.1594A>G	p.I532V	Missense	11/27	-	1
12-99064871-A-G	c.1608+7A>G	-	IntronicSNV	-	11/26	1
12-99065314-A-G	c.1610A>G	p.D537G	Missense	12/27	-	1
12-99065316-TG-AC	c.1612_1613delinsAC	p.C538T	Missense	12/27	-	1
12-99065330-G-A	c.1626G>A	p.E542=	Synonymous	12/27	-	2
12-99065330-G-C	c.1626G>C	p.E542D	Missense	12/27	-	2
12-99065330-G-T	c.1626G>T	p.E542D	Missense	12/27	-	2
12-99065334-T-A	c.1630T>A	p.F544I	Missense	12/27	-	1
12-99065337-C-G	c.1633C>G	p.Q545E	Missense	12/27	-	1
12-99065343-T-A	c.1639T>A	p.F547I	Missense	12/27	-	2
12-99065350-C-G	c.1646C>G	p.S549C	Missense	12/27	-	1
12-99065359-G-A	c.1655G>A	p.G552E	Missense	12/27	-	3
12-99065363-C-T	c.1659C>T	p.H553=	Synonymous	12/27	-	1
12-99065366-T-TA	c.1662_1663insA	p.L555Tfs*8	Frameshift	12/27	-	1
12-99065369-T-A	c.1665T>A	p.L555=	Synonymous	12/27	-	1
12-99065369-T-C	c.1665T>C	p.L555=	Synonymous	12/27	-	1
12-99065369-T-G	c.1665T>G	p.L555=	Synonymous	12/27	-	1
12-99065373-C-T	c.1669C>T	p.R557*	Nonsense	12/27	-	5
12-99065379-C-A	c.1675C>A	p.P559T	Missense	12/27	-	1
12-99065382-T-C	c.1678T>C	p.F560L	Missense	12/27	-	1
12-99065384-T-A	c.1680T>A	p.F560L	Missense	12/27	-	1
12-99065384-T-G	c.1680T>G	p.F560L	Missense	12/27	-	1
12-99065385-C-A	c.1681C>A	p.P561T	Missense	12/27	-	1
12-99065386-C-G	c.1682C>G	p.P561R	Missense	12/27	-	1
12-99065386-C-T	c.1682C>T	p.P561L	Missense	12/27	-	1
12-99065388-A-G	c.1684A>G	p.N562D	Missense	12/27	-	1
12-99065398-A-G	c.1694A>G	p.Q565R	Missense	12/27	-	1
12-99065401-T-C	c.1697T>C	p.L566P	Missense	12/27	-	1
12-99065400-C-T	c.1696C>T	p.L566=	Synonymous	12/27	-	2
12-99065402-G-A	c.1698G>A	p.L566=	Synonymous	12/27	-	1
12-99065402-G-C	c.1698G>C	p.L566=	Synonymous	12/27	-	1
12-99065402-G-T	c.1698G>T	p.L566=	Synonymous	12/27	-	1
12-99065406-C-G	c.1702C>G	p.L568V	Missense	12/27	-	1
12-99065406-C-T	c.1702C>T	p.L568F	Missense	12/27	-	1
12-99065414-G-C	c.1710G>C	p.E570D	Missense	12/27	-	1
12-99065417-G-A	c.1713G>A	p.P571=	Synonymous	12/27	-	3
12-99065417-G-C	c.1713G>C	p.P571=	Synonymous	12/27	-	1
12-99065417-G-T	c.1713G>T	p.P571=	Synonymous	12/27	-	1
12-99065418-G-A	c.1714G>A	p.E572K	Missense	12/27	-	1
12-99065425-C-T	c.1721C>T	p.S574L	Missense	12/27	-	1
12-99065430-G-A	c.1726G>A	p.V576I	Missense	12/27	-	1
12-99065432-T-A	c.1728T>A	p.V576=	Synonymous	12/27	-	1
12-99065432-T-C	c.1728T>C	p.V576=	Synonymous	12/27	-	1
12-99065432-T-G	c.1728T>G	p.V576=	Synonymous	12/27	-	1
12-99065435-T-A	c.1731T>A	p.Y577*	Nonsense	12/27	-	2
12-99065435-T-G	c.1731T>G	p.Y577*	Nonsense	12/27	-	3
12-99065436-C-T	c.1732C>T	p.Q578*	Nonsense	12/27	-	1
12-99065439-C-T	c.1735C>T	p.Q579*	Nonsense	12/27	-	2
12-99065443-C-A	c.1739C>A	p.A580D	Missense	12/27	-	1
12-99065446-A-G	c.1742A>G	p.K581R	Missense	12/27	-	1
12-99065452-A-T	c.1748A>T	p.Q583L	Missense	12/27	-	1
12-99065454-G-A	c.1750G>A	p.A584T	Missense	12/27	-	2
12-99065459-G-A	c.1755G>A	p.K585=	Synonymous	12/27	-	1
12-99065465-G-T	c.1761G>T	p.E587D	UnclassifiedSNV	12/27	-	1
12-99065476-G-A	c.1772G>A	p.G591E	Missense	12/27	-	1
12-99065487-C-G	c.1783C>G	p.L595V	Missense	12/27	-	1
12-99065487-C-T	c.1783C>T	p.L595=	Synonymous	12/27	-	2
12-99065489-G-A	c.1785G>A	p.L595=	Synonymous	12/27	-	2
12-99065489-G-C	c.1785G>C	p.L595=	Synonymous	12/27	-	2
12-99065489-G-T	c.1785G>T	p.L595=	Synonymous	12/27	-	2
12-99065598-C-T	c.1793+101C>T	-	IntronicSNV	-	12/26	1
12-99066706-AT-A	c.1793+1218del	-	IntronicDeletion	-	12/26	1
12-99067526-T-A	c.1793+2029T>A	-	IntronicSNV	-	12/26	1
12-99067590-G-A	c.1793+2093G>A	-	IntronicSNV	-	12/26	1
12-99071023-T-C	c.1794-180T>C	-	IntronicSNV	-	12/26	1
12-99071023-T-G	c.1794-180T>G	-	IntronicSNV	-	12/26	1
12-99071203-A-AC	c.1794_1795insC	p.N599Qfs*27	SpliceAcceptorInsertion	13/27	-	2
12-99071203-A-AG	c.1794_1795insG	p.N599Efs*27	SpliceAcceptorInsertion	13/27	-	2
12-99071203-A-AT	c.1794_1795insT	p.N599*	SpliceAcceptorInsertion	13/27	-	2
12-99071206-C-CT	c.1797_1798insT	p.K600*	Nonsense	13/27	-	1
12-99071209-A-AT	c.1800_1801insT	p.K601*	Nonsense	13/27	-	1
12-99071212-A-AT	c.1803_1804insT	p.N602*	Nonsense	13/27	-	1
12-99071206-CAA-C	c.1804_1805del	p.N602Hfs*23	Frameshift	13/27	-	1
12-99071206-CA-C	c.1805del	p.N602Tfs*8	Frameshift	13/27	-	2
12-99071206-C-CA	c.1805dup	p.N602Kfs*24	Frameshift	13/27	-	4
12-99071220-C-T	c.1811C>T	p.T604M	Missense	13/27	-	1
12-99071221-G-A	c.1812G>A	p.T604=	Synonymous	13/27	-	4
12-99071221-G-C	c.1812G>C	p.T604=	Synonymous	13/27	-	4
12-99071221-G-T	c.1812G>T	p.T604=	Synonymous	13/27	-	4
12-99071232-G-A	c.1823G>A	p.R608H	Missense	13/27	-	2
12-99071243-C-T	c.1834C>T	p.R612C	Missense	13/27	-	3
12-99071244-G-A	c.1835G>A	p.R612H	Missense	13/27	-	3
12-99071249-C-G	c.1840C>G	p.H614D	Missense	13/27	-	2
12-99071265-A-C	c.1856A>C	p.Y619S	Missense	13/27	-	1
12-99071267-C-T	c.1858C>T	p.H620Y	Missense	13/27	-	1
12-99071268-A-G	c.1859A>G	p.H620R	UnclassifiedSNV	13/27	-	2
12-99071274-G-A	c.1865G>A	p.C622Y	Missense	13/27	-	3
12-99071274-G-T	c.1865G>T	p.C622F	Missense	13/27	-	1
12-99071277-TT-AA	c.1868_1869inv	p.F623*	Nonsense	13/27	-	1
12-99071279-T-C	c.1870T>C	p.S624P	Missense	13/27	-	1
12-99071282-G-C	c.1873G>C	p.E625Q	Missense	13/27	-	1
12-99071283-A-C	c.1874A>C	p.E625A	Missense	13/27	-	3
12-99071288-G-C	c.1879G>C	p.G627R	Missense	13/27	-	3
12-99071294-AG-CA	c.1885_1886delinsCA	p.R629Q	Missense	13/27	-	1
12-99071295-G-A	c.1886G>A	p.R629K	Missense	13/27	-	1
12-99071304-C-T	c.1895C>T	p.S632F	Missense	13/27	-	2
12-99071306-T-C	c.1897T>C	p.C633R	Missense	13/27	-	1
12-99071312-G-A	c.1903G>A	p.A635T	Missense	13/27	-	1
12-99071315-G-A	c.1906G>A	p.D636N	Missense	13/27	-	1
12-99071319-A-G	c.1910A>G	p.K637R	Missense	13/27	-	1
12-99071326-A-T	c.1917A>T	p.L639F	Missense	13/27	-	4
12-99071329-G-A	c.1920G>A	p.Q640=	Synonymous	13/27	-	1
12-99071355-G-T	c.1920+26G>T	-	IntronicSNV	-	13/26	1
12-99071892-C-T	c.1920+563C>T	-	IntronicSNV	-	13/26	1
12-99072859-C-G	c.1921-1196C>G	-	IntronicSNV	-	13/26	1
12-99073022-T-C	c.1921-1033T>C	-	IntronicSNV	-	13/26	1
12-99073817-C-T	c.1921-238C>T	-	IntronicSNV	-	13/26	1
12-99074055-GTG-ATC	c.1921_1923delinsATC	p.V641I	Missense	14/27	-	1
12-99074067-G-C	c.1933G>C	p.E645Q	Missense	14/27	-	1
12-99074071-CA-TG	c.1937_1938inv	p.T646M	Missense	14/27	-	1
12-99074073-G-T	c.1939G>T	p.G647*	Nonsense	14/27	-	2
12-99074076-AG-A	c.1942del	p.E648Rfs*4	Frameshift	14/27	-	1
12-99074076-G-A	c.1942G>A	p.E648K	Missense	14/27	-	1
12-99074078-G-A	c.1944G>A	p.E648=	Synonymous	14/27	-	2
12-99074085-C-G	c.1951C>G	p.L651V	Missense	14/27	-	1
12-99074088-G-A	c.1954G>A	p.E652K	Missense	14/27	-	1
12-99074100-C-T	c.1966C>T	p.H656Y	UnclassifiedSNV	14/27	-	3
12-99074106-G-A	c.1972G>A	p.D658N	Missense	14/27	-	1
12-99074107-A-T	c.1973A>T	p.D658V	Missense	14/27	-	1
12-99074109-G-A	c.1975G>A	p.E659K	Missense	14/27	-	6
12-99074121-TG-AC	c.1987_1988delinsAC	p.C663T	Missense	14/27	-	1
12-99074131-C-G	c.1997C>G	p.S666C	Missense	14/27	-	5
12-99074137-A-T	c.2003A>T	p.D668V	Missense	14/27	-	1
12-99074140-A-T	c.2006A>T	p.D669V	UnclassifiedSNV	14/27	-	1
12-99074148-A-G	c.2014A>G	p.I672V	Missense	14/27	-	5
12-99074150-A-T	c.2016A>T	p.I672=	Synonymous	14/27	-	1
12-99074153-A-C	c.2019A>C	p.A673=	Synonymous	14/27	-	1
12-99074153-A-G	c.2019A>G	p.A673=	Synonymous	14/27	-	1
12-99074153-A-T	c.2019A>T	p.A673=	Synonymous	14/27	-	1
12-99074155-C-T	c.2021C>T	p.T674I	Missense	14/27	-	3
12-99074166-G-A	c.2032G>A	p.D678N	Missense	14/27	-	1
12-99074166-G-T	c.2032G>T	p.D678Y	Missense	14/27	-	1
12-99074172-A-C	c.2038A>C	p.K680Q	Missense	14/27	-	1
12-99074176-T-C	c.2042T>C	p.V681A	Missense	14/27	-	1
12-99074181-G-A	c.2046+1G>A	-	IntronicSNV	-	14/26	1
12-99074181-G-T	c.2046+1G>T	-	IntronicSNV	-	14/26	1
12-99074197-C-T	c.2046+17C>T	-	IntronicSNV	-	14/26	1
12-99076316-A-G	c.2047-605A>G	-	IntronicSNV	-	14/26	2
12-99076586-A-G	c.2047-335A>G	-	IntronicSNV	-	14/26	1
12-99076923-T-A	c.2049T>A	p.I683=	Synonymous	15/27	-	1
12-99076923-T-C	c.2049T>C	p.I683=	Synonymous	15/27	-	1
12-99076931-C-A	c.2057C>A	p.S686Y	UnclassifiedSNV	15/27	-	3
12-99076932-T-A	c.2058T>A	p.S686=	Synonymous	15/27	-	2
12-99076932-T-C	c.2058T>C	p.S686=	Synonymous	15/27	-	3
12-99076932-T-G	c.2058T>G	p.S686=	Synonymous	15/27	-	2
12-99076933-A-G	c.2059A>G	p.M687V	Missense	15/27	-	1
12-99076938-T-A	c.2064T>A	p.T688=	Synonymous	15/27	-	1
12-99076938-T-C	c.2064T>C	p.T688=	Synonymous	15/27	-	1
12-99076938-T-G	c.2064T>G	p.T688=	Synonymous	15/27	-	1
12-99076940-G-T	c.2066G>T	p.G689V	Missense	15/27	-	1
12-99076942-G-A	c.2068G>A	p.E690K	Missense	15/27	-	3
12-99076946-T-C	c.2072T>C	p.L691P	Missense	15/27	-	2
12-99076949-T-C	c.2075T>C	p.V692A	UnclassifiedSNV	15/27	-	2
12-99076963-G-A	c.2089G>A	p.E697K	Missense	15/27	-	1
12-99076967-A-G	c.2093A>G	p.H698R	Missense	15/27	-	1
12-99076979-T-C	c.2105T>C	p.V702A	Missense	15/27	-	5
12-99076980-C-A	c.2106C>A	p.V702=	Synonymous	15/27	-	1
12-99076980-C-G	c.2106C>G	p.V702=	Synonymous	15/27	-	1
12-99076980-C-T	c.2106C>T	p.V702=	Synonymous	15/27	-	1
12-99076984-T-C	c.2110T>C	p.C704R	Missense	15/27	-	1
12-99076984-TG-AC	c.2110_2111delinsAC	p.C704T	Missense	15/27	-	1
12-99076985-G-A	c.2111G>A	p.C704Y	Missense	15/27	-	3
12-99076988-G-A	c.2114G>A	p.C705Y	Missense	15/27	-	1
12-99076989-C-T	c.2115C>T	p.C705=	Synonymous	15/27	-	2
12-99076994-T-C	c.2120T>C	p.F707S	Missense	15/27	-	2
12-99076995-C-T	c.2121C>T	p.F707=	Synonymous	15/27	-	2
12-99077000-A-C	c.2126A>C	p.N709T	Missense	15/27	-	1
12-99077001-C-T	c.2127C>T	p.N709=	Synonymous	15/27	-	1
12-99077004-T-C	c.2130T>C	p.S710=	Synonymous	15/27	-	2
12-99077009-A-G	c.2135A>G	p.H712R	Missense	15/27	-	3
12-99077025-C-A	c.2151C>A	p.A717=	Synonymous	15/27	-	1
12-99077025-C-G	c.2151C>G	p.A717=	Synonymous	15/27	-	1
12-99077025-C-T	c.2151C>T	p.A717=	Synonymous	15/27	-	1
12-99077029-G-A	c.2155G>A	p.G719R	Missense	15/27	-	1
12-99077029-G-C	c.2155G>C	p.G719R	Missense	15/27	-	1
12-99077030-G-C	c.2156G>C	p.G719A	Missense	15/27	-	1
12-99077040-C-A	c.2166C>A	p.D722E	Missense	15/27	-	1
12-99077043-C-A	c.2169C>A	p.C723*	Nonsense	15/27	-	1
12-99077044-T-C	c.2170T>C	p.F724L	Missense	15/27	-	2
12-99077046-C-A	c.2172C>A	p.F724L	Missense	15/27	-	2
12-99077046-C-G	c.2172C>G	p.F724L	Missense	15/27	-	2
12-99077189-CA-C	c.2178+147del	-	IntronicDeletion	-	15/26	2
12-99080529-T-A	c.2182T>A	p.W728R	Missense	16/27	-	1
12-99080529-T-C	c.2182T>C	p.W728R	Missense	16/27	-	1
12-99080541-C-T	c.2194C>T	p.Q732*	Nonsense	16/27	-	1
12-99080541-TC-T	c.2194del	p.Q732Kfs*36	Frameshift	16/27	-	1
12-99080547-G-T	c.2200G>T	p.E734*	UnclassifiedSNV	16/27	-	4
12-99080549-A-G	c.2202A>G	p.E734=	Synonymous	16/27	-	1
12-99080553-C-G	c.2206C>G	p.R736G	Missense	16/27	-	1
12-99080553-C-T	c.2206C>T	p.R736*	Nonsense	16/27	-	2
12-99080554-G-A	c.2207G>A	p.R736Q	Missense	16/27	-	3
12-99080570-T-A	c.2223T>A	p.G741=	Synonymous	16/27	-	2
12-99080570-T-C	c.2223T>C	p.G741=	Synonymous	16/27	-	2
12-99080570-T-G	c.2223T>G	p.G741=	Synonymous	16/27	-	2
12-99080595-A-G	c.2248A>G	p.R750G	Missense	16/27	-	1
12-99080602-C-A	c.2255C>A	p.S752*	Nonsense	16/27	-	1
12-99080602-C-G	c.2255C>G	p.S752*	Nonsense	16/27	-	1
12-99080609-T-A	c.2262T>A	p.D754E	Missense	16/27	-	2
12-99080609-T-G	c.2262T>G	p.D754E	Missense	16/27	-	2
12-99080611-A-G	c.2264A>G	p.D755G	Missense	16/27	-	1
12-99080614-A-G	c.2267A>G	p.K756R	Missense	16/27	-	1
12-99080616-C-G	c.2269C>G	p.L757V	Missense	16/27	-	1
12-99080625-AG-TA	c.2278_2279delinsTA	p.S760Y	Missense	16/27	-	1
12-99080632-C-A	c.2285C>A	p.S762*	Nonsense	16/27	-	1
12-99080642-A-G	c.2295A>G	p.G765=	Synonymous	16/27	-	1
12-99080653-T-C	c.2304+2T>C	-	IntronicSNV	-	16/26	1
12-99080868-T-C	c.2304+217T>C	-	IntronicSNV	-	16/26	2
12-99092621-A-G	c.2305-565A>G	-	IntronicSNV	-	16/26	3
12-99093193-A-C	c.2312A>C	p.D771A	Missense	17/27	-	2
12-99093196-C-A	c.2315C>A	p.A772E	Missense	17/27	-	1
12-99093196-C-T	c.2315C>T	p.A772V	Missense	17/27	-	1
12-99093197-G-A	c.2316G>A	p.A772=	Synonymous	17/27	-	4
12-99093197-G-C	c.2316G>C	p.A772=	Synonymous	17/27	-	2
12-99093197-G-T	c.2316G>T	p.A772=	Synonymous	17/27	-	2
12-99093210-G-A	c.2329G>A	p.E777K	Missense	17/27	-	11
12-99093210-G-T	c.2329G>T	p.E777*	Nonsense	17/27	-	1
12-99093212-G-C	c.2331G>C	p.E777D	Missense	17/27	-	1
12-99093212-G-T	c.2331G>T	p.E777D	Missense	17/27	-	1
12-99093217-A-G	c.2336A>G	p.K779R	Missense	17/27	-	1
12-99093219-AGC-GAG	c.2338_2340delinsGAG	p.S780E	Missense	17/27	-	1
12-99093220-G-T	c.2339G>T	p.S780I	Missense	17/27	-	4
12-99093226-A-C	c.2345A>C	p.N782T	Missense	17/27	-	13
12-99093227-T-C	c.2346T>C	p.N782=	Synonymous	17/27	-	2
12-99093237-T-C	c.2356T>C	p.F786L	Missense	17/27	-	1
12-99093239-C-A	c.2358C>A	p.F786L	Missense	17/27	-	1
12-99093239-C-G	c.2358C>G	p.F786L	Missense	17/27	-	1
12-99093238-T-A	c.2357T>A	p.F786Y	Missense	17/27	-	1
12-99093239-TC-T	c.2358del	p.F787Sfs*2	Frameshift	17/27	-	1
12-99093239-CT-C	c.2360del	p.F787Sfs*2	Frameshift	17/27	-	2
12-99093244-T-C	c.2363T>C	p.L788P	Missense	17/27	-	1
12-99093246-A-T	c.2365A>T	p.N789Y	Missense	17/27	-	4
12-99093247-A-G	c.2366A>G	p.N789S	Missense	17/27	-	1
12-99093252-G-A	c.2371G>A	p.E791K	Missense	17/27	-	1
12-99093261-C-G	c.2380C>G	p.Q794E	Missense	17/27	-	1
12-99093264-G-C	c.2383G>C	p.E795Q	Missense	17/27	-	1
12-99093273-G-A	c.2392G>A	p.E798K	Missense	17/27	-	1
12-99093284-G-T	c.2403G>T	p.V801=	Synonymous	17/27	-	1
12-99093292-G-T	c.2411G>T	p.C804F	Missense	17/27	-	1
12-99093295-C-T	c.2414C>T	p.S805L	Missense	17/27	-	2
12-99093300-TCT-GAG	c.2419_2421delinsGAG	p.S807E	Missense	17/27	-	1
12-99093302-T-A	c.2421T>A	p.S807=	Synonymous	17/27	-	1
12-99093302-T-C	c.2421T>C	p.S807=	Synonymous	17/27	-	1
12-99093302-T-G	c.2421T>G	p.S807=	Synonymous	17/27	-	1
12-99093304-C-T	c.2423C>T	p.A808V	Missense	17/27	-	1
12-99093306-G-A	c.2425G>A	p.D809N	Missense	17/27	-	3
12-99093312-G-GCATCC	c.2433_2434insTCCCA	p.R812Sfs*4	Frameshift	17/27	-	1
12-99093316-G-A	c.2435G>A	p.R812K	Missense	17/27	-	1
12-99093323-G-A	c.2442G>A	p.M814I	Missense	17/27	-	1
12-99093323-G-C	c.2442G>C	p.M814I	Missense	17/27	-	1
12-99093323-G-T	c.2442G>T	p.M814I	Missense	17/27	-	2
12-99093330-G-A	c.2449G>A	p.A817T	Missense	17/27	-	1
12-99093332-A-C	c.2451A>C	p.A817=	Synonymous	17/27	-	1
12-99093332-A-G	c.2451A>G	p.A817=	Synonymous	17/27	-	1
12-99093332-A-T	c.2451A>T	p.A817=	Synonymous	17/27	-	1
12-99093342-A-G	c.2461A>G	p.I821V	Missense	17/27	-	1
12-99093355-C-T	c.2466+8C>T	-	IntronicSNV	-	17/26	1
12-99093390-G-T	c.2466+43G>T	-	IntronicSNV	-	17/26	1
12-99096661-A-C	c.2467-488A>C	-	IntronicSNV	-	17/26	1
12-99097157-C-T	c.2475C>T	p.D825=	Synonymous	18/27	-	1
12-99097165-C-T	c.2483C>T	p.T828I	Missense	18/27	-	1
12-99097167-A-T	c.2485A>T	p.S829C	Missense	18/27	-	3
12-99097178-G-A	c.2496G>A	p.L832=	Synonymous	18/27	-	1
12-99097190-C-T	c.2508C>T	p.H836=	Synonymous	18/27	-	1
12-99097192-CG-TC	c.2510_2511delinsTC	p.T837I	Missense	18/27	-	1
12-99097192-C-T	c.2510C>T	p.T837M	Missense	18/27	-	1
12-99097198-A-G	c.2516A>G	p.H839R	Missense	18/27	-	2
12-99097200-CA-GC	c.2518_2519delinsGC	p.H840A	Missense	18/27	-	1
12-99097210-T-A	c.2528T>A	p.I843N	Missense	18/27	-	1
12-99097220-T-G	c.2538T>G	p.C846W	Missense	18/27	-	1
12-99097227-TC-AT	c.2545_2546delinsAT	p.S849I	Missense	18/27	-	1
12-99097236-A-C	c.2554A>C	p.N852H	Missense	18/27	-	1
12-99097244-G-C	c.2562G>C	p.L854F	Missense	18/27	-	1
12-99097244-G-T	c.2562G>T	p.L854F	Missense	18/27	-	2
12-99097249-T-C	c.2567T>C	p.V856A	Missense	18/27	-	2
12-99097254-G-T	c.2572G>T	p.A858S	Missense	18/27	-	1
12-99097256-T-C	c.2574T>C	p.A858=	Synonymous	18/27	-	1
12-99097260-TC-CT	c.2578_2579delinsCT	p.S860L	Missense	18/27	-	3
12-99097261-C-A	c.2579C>A	p.S860Y	Missense	18/27	-	1
12-99097263-C-T	c.2581C>T	p.Q861*	Nonsense	18/27	-	1
12-99097264-A-G	c.2582A>G	p.Q861R	Missense	18/27	-	1
12-99097277-G-A	c.2595G>A	p.E865=	Synonymous	18/27	-	2
12-99097470-G-A	c.2595+193G>A	-	IntronicSNV	-	18/26	3
12-99100184-T-C	c.2596-79T>C	-	IntronicSNV	-	18/26	1
12-99100267-G-A	c.2600G>A	p.W867*	Nonsense	19/27	-	1
12-99100273-C-T	c.2606C>T	p.T869I	Missense	19/27	-	1
12-99100275-G-A	c.2608G>A	p.D870N	Missense	19/27	-	2
12-99100277-C-A	c.2610C>A	p.D870E	Missense	19/27	-	1
12-99100277-C-G	c.2610C>G	p.D870E	Missense	19/27	-	1
12-99100279-C-T	c.2612C>T	p.S871L	Missense	19/27	-	5
12-99100281-C-G	c.2614C>G	p.R872G	Missense	19/27	-	2
12-99100281-C-T	c.2614C>T	p.R872C	Missense	19/27	-	1
12-99100282-G-A	c.2615G>A	p.R872H	Missense	19/27	-	5
12-99100283-T-A	c.2616T>A	p.R872=	Synonymous	19/27	-	1
12-99100283-T-C	c.2616T>C	p.R872=	Synonymous	19/27	-	1
12-99100283-T-G	c.2616T>G	p.R872=	Synonymous	19/27	-	1
12-99100293-G-T	c.2626G>T	p.A876S	Missense	19/27	-	1
12-99100303-G-A	c.2636G>A	p.R879K	Missense	19/27	-	3
12-99100309-A-G	c.2642A>G	p.H881R	Missense	19/27	-	1
12-99100323-C-T	c.2656C>T	p.H886Y	Missense	19/27	-	1
12-99100325-T-C	c.2658T>C	p.H886=	Synonymous	19/27	-	2
12-99100332-A-C	c.2665A>C	p.M889L	Missense	19/27	-	1
12-99100332-A-T	c.2665A>T	p.M889L	Missense	19/27	-	1
12-99100347-GG-AC	c.2680_2681delinsAC	p.G894T	Missense	19/27	-	1
12-99100348-G-A	c.2681G>A	p.G894E	Missense	19/27	-	3
12-99100350-T-C	c.2683T>C	p.S895P	Missense	19/27	-	1
12-99100369-C-T	c.2702C>T	p.S901F	Missense	19/27	-	1
12-99100376-C-A	c.2709C>A	p.D903E	Missense	19/27	-	1
12-99100376-C-G	c.2709C>G	p.D903E	Missense	19/27	-	1
12-99100388-G-A	c.2721G>A	p.R907=	Synonymous	19/27	-	1
12-99102375-A-G	c.2734A>G	p.K912E	Missense	20/27	-	1
12-99102381-G-A	c.2740G>A	p.V914I	Missense	20/27	-	2
12-99102394-C-T	c.2753C>T	p.S918F	Missense	20/27	-	1
12-99102396-G-A	c.2755G>A	p.A919T	Missense	20/27	-	1
12-99102398-T-A	c.2757T>A	p.A919=	Synonymous	20/27	-	1
12-99102398-T-C	c.2757T>C	p.A919=	Synonymous	20/27	-	1
12-99102398-T-G	c.2757T>G	p.A919=	Synonymous	20/27	-	1
12-99102402-A-G	c.2761A>G	p.M921V	Missense	20/27	-	1
12-99102403-T-C	c.2762T>C	p.M921T	Missense	20/27	-	1
12-99102414-G-T	c.2773G>T	p.E925*	Nonsense	20/27	-	4
12-99102432-C-T	c.2791C>T	p.Q931*	Nonsense	20/27	-	2
12-99102435-G-T	c.2794G>T	p.E932*	Nonsense	20/27	-	2
12-99102441-G-A	c.2800G>A	p.E934K	Missense	20/27	-	1
12-99102450-G-A	c.2809G>A	p.V937I	Missense	20/27	-	1
12-99102466-A-T	c.2825A>T	p.H942L	Missense	20/27	-	1
12-99102470-A-T	c.2829A>T	p.I943=	Synonymous	20/27	-	1
12-99102474-C-T	c.2833C>T	p.R945C	Missense	20/27	-	2
12-99102475-G-A	c.2834G>A	p.R945H	Missense	20/27	-	1
12-99102475-G-T	c.2834G>T	p.R945L	Missense	20/27	-	1
12-99102480-C-G	c.2839C>G	p.Q947E	Missense	20/27	-	1
12-99102487-G-A	c.2841+5G>A	-	IntronicSNV	-	20/26	1
12-99106107-G-A	c.2852G>A	p.G951E	Missense	21/27	-	1
12-99106112-A-T	c.2857A>T	p.T953S	Missense	21/27	-	1
12-99106113-C-G	c.2858C>G	p.T953R	Missense	21/27	-	1
12-99106126-T-A	c.2871T>A	p.D957E	Missense	21/27	-	1
12-99106126-T-G	c.2871T>G	p.D957E	Missense	21/27	-	1
12-99106135-T-A	c.2880T>A	p.T960=	Synonymous	21/27	-	1
12-99106135-T-C	c.2880T>C	p.T960=	Synonymous	21/27	-	1
12-99106135-T-G	c.2880T>G	p.T960=	Synonymous	21/27	-	1
12-99106139-G-A	c.2884G>A	p.A962T	Missense	21/27	-	1
12-99106141-T-C	c.2886T>C	p.A962=	Synonymous	21/27	-	3
12-99106159-C-T	c.2904C>T	p.C968=	Synonymous	21/27	-	1
12-99106168-A-C	c.2913A>C	p.P971=	Synonymous	21/27	-	1
12-99106168-A-G	c.2913A>G	p.P971=	Synonymous	21/27	-	1
12-99106168-A-T	c.2913A>T	p.P971=	Synonymous	21/27	-	1
12-99106175-C-T	c.2920C>T	p.Q974*	Nonsense	21/27	-	1
12-99106175-TC-T	c.2920del	p.Q974Sfs*15	Frameshift	21/27	-	1
12-99106196-G-A	c.2941G>A	p.E981K	Missense	21/27	-	1
12-99106202-G-A	c.2947G>A	p.G983R	Missense	21/27	-	1
12-99106202-G-T	c.2947G>T	p.G983*	Nonsense	21/27	-	1
12-99106203-G-T	c.2948G>T	p.G983V	Missense	21/27	-	1
12-99106205-G-A	c.2950G>A	p.A984T	Missense	21/27	-	1
12-99106207-C-A	c.2952C>A	p.A984=	Synonymous	21/27	-	1
12-99106207-C-G	c.2952C>G	p.A984=	Synonymous	21/27	-	1
12-99106207-C-T	c.2952C>T	p.A984=	Synonymous	21/27	-	1
12-99106209-T-G	c.2954T>G	p.I985S	Missense	21/27	-	1
12-99106340-C-T	c.2958+127C>T	-	IntronicSNV	-	21/26	1
12-99106367-C-T	c.2958+154C>T	-	IntronicSNV	-	21/26	1
12-99106442-A-G	c.2958+229A>G	-	IntronicSNV	-	21/26	1
12-99108288-A-G	c.2959-917A>G	-	IntronicSNV	-	21/26	1
12-99109212-A-G	c.2966A>G	p.E989G	Missense	22/27	-	1
12-99109215-T-G	c.2969T>G	p.L990R	Missense	22/27	-	2
12-99109218-GT-G	c.2972del	p.V991Efs*57	Frameshift	22/27	-	1
12-99109218-TA-T	c.2975del	p.N992Tfs*56	Frameshift	22/27	-	1
12-99109224-A-T	c.2978A>T	p.N993I	Missense	22/27	-	2
12-99109227-G-T	c.2981G>T	p.R994I	Missense	22/27	-	1
12-99109237-G-A	c.2991G>A	p.Q997=	Synonymous	22/27	-	1
12-99109247-C-A	c.3001C>A	p.Q1001K	Missense	22/27	-	1
12-99109247-C-G	c.3001C>G	p.Q1001E	Missense	22/27	-	2
12-99109251-A-G	c.3005A>G	p.H1002R	Missense	22/27	-	1
12-99109253-A-G	c.3007A>G	p.K1003E	Missense	22/27	-	1
12-99109280-A-C	c.3034A>C	p.T1012P	Missense	22/27	-	1
12-99109286-G-A	c.3040G>A	p.D1014N	Missense	22/27	-	4
12-99109286-G-T	c.3040G>T	p.D1014Y	Missense	22/27	-	1
12-99109289-G-A	c.3043G>A	p.E1015K	Missense	22/27	-	1
12-99109289-G-T	c.3043G>T	p.E1015*	Nonsense	22/27	-	1
12-99109295-ACT-A	c.3052_3053del	p.L1018Yfs*5	Frameshift	22/27	-	1
12-99109301-A-T	c.3055A>T	p.I1019F	Missense	22/27	-	1
12-99109320-C-A	c.3074C>A	p.A1025D	Missense	22/27	-	2
12-99109322-G-T	c.3076G>T	p.E1026*	Nonsense	22/27	-	1
12-99109423-A-C	c.3084+93A>C	-	IntronicSNV	-	22/26	6
12-99112323-A-G	c.3084+2993A>G	-	IntronicSNV	-	22/26	1
12-99114755-A-G	c.3085-2216A>G	-	IntronicSNV	-	22/26	1
12-99116919-A-G	c.3085-52A>G	-	IntronicSNV	-	22/26	6
12-99116920-T-C	c.3085-51T>C	-	IntronicSNV	-	22/26	1
12-99116971-G-A	c.3085G>A	p.V1029I	Missense	23/27	-	1
12-99116971-GTA-ATG	c.3085_3087delinsATG	p.V1029M	Missense	23/27	-	1
12-99116986-T-A	c.3100T>A	p.L1034M	Missense	23/27	-	1
12-99116990-GA-G	c.3104del	p.D1035Afs*13	Frameshift	23/27	-	1
12-99116996-G-T	c.3110G>T	p.C1037F	Missense	23/27	-	2
12-99117001-T-G	c.3115T>G	p.F1039V	Missense	23/27	-	1
12-99117012-C-A	c.3126C>A	p.G1042=	Synonymous	23/27	-	1
12-99117012-C-G	c.3126C>G	p.G1042=	Synonymous	23/27	-	1
12-99117012-C-T	c.3126C>T	p.G1042=	Synonymous	23/27	-	1
12-99117013-C-G	c.3127C>G	p.H1043D	Missense	23/27	-	1
12-99117014-A-G	c.3128A>G	p.H1043R	Missense	23/27	-	2
12-99117019-G-A	c.3133G>A	p.E1045K	Missense	23/27	-	1
12-99117025-G-A	c.3139G>A	p.V1047M	Missense	23/27	-	1
12-99117031-G-A	c.3145G>A	p.D1049N	Missense	23/27	-	1
12-99117042-C-G	c.3156C>G	p.L1052=	Synonymous	23/27	-	1
12-99117045-G-A	c.3159G>A	p.L1053=	Synonymous	23/27	-	1
12-99117053-C-T	c.3167C>T	p.S1056L	Missense	23/27	-	2
12-99117054-A-C	c.3168A>C	p.S1056=	Synonymous	23/27	-	1
12-99117054-A-G	c.3168A>G	p.S1056=	Synonymous	23/27	-	1
12-99117054-A-T	c.3168A>T	p.S1056=	Synonymous	23/27	-	1
12-99117070-T-C	c.3184T>C	p.S1062P	Missense	23/27	-	2
12-99117077-A-G	c.3191A>G	p.D1064G	Missense	23/27	-	1
12-99117079-G-C	c.3193G>C	p.G1065R	Missense	23/27	-	1
12-99117080-G-A	c.3194G>A	p.G1065E	Missense	23/27	-	1
12-99117090-G-T	c.3204G>T	p.K1068N	Missense	23/27	-	2
12-99117417-G-T	c.3205G>T	p.V1069L	Missense	24/27	-	1
12-99117419-A-C	c.3207A>C	p.V1069=	Synonymous	24/27	-	1
12-99117419-A-G	c.3207A>G	p.V1069=	Synonymous	24/27	-	1
12-99117419-A-T	c.3207A>T	p.V1069=	Synonymous	24/27	-	1
12-99117421-G-A	c.3209G>A	p.W1070*	Nonsense	24/27	-	1
12-99117429-A-T	c.3217A>T	p.I1073F	Missense	24/27	-	1
12-99117436-G-A	c.3224G>A	p.G1075E	Missense	24/27	-	1
12-99117437-A-C	c.3225A>C	p.G1075=	Synonymous	24/27	-	1
12-99117437-A-G	c.3225A>G	p.G1075=	Synonymous	24/27	-	1
12-99117437-A-T	c.3225A>T	p.G1075=	Synonymous	24/27	-	1
12-99117450-G-A	c.3238G>A	p.D1080N	Missense	24/27	-	1
12-99117456-G-T	c.3244G>T	p.V1082F	Missense	24/27	-	1
12-99117454-TTGTC-T	c.3247_3250del	p.C1083Tfs*40	Frameshift	24/27	-	1
12-99117471-A-G	c.3259A>G	p.T1087A	Missense	24/27	-	1
12-99117475-T-C	c.3263T>C	p.V1088A	Missense	24/27	-	2
12-99117481-C-A	c.3269C>A	p.S1090Y	Missense	24/27	-	1
12-99117487-A-T	c.3275A>T	p.D1092V	Missense	24/27	-	1
12-99117490-T-C	c.3278T>C	p.I1093T	Missense	24/27	-	1
12-99117497-C-T	c.3285C>T	p.H1095=	Synonymous	24/27	-	1
12-99117498-G-A	c.3286G>A	p.D1096N	Missense	24/27	-	1
12-99117514-C-A	c.3302C>A	p.S1101*	Nonsense	24/27	-	2
12-99117514-C-T	c.3302C>T	p.S1101L	Missense	24/27	-	1
12-99117517-C-T	c.3305C>T	p.S1102F	Missense	24/27	-	1
12-99117520-C-A	c.3308C>A	p.T1103N	Missense	24/27	-	1
12-99117521-C-A	c.3309C>A	p.T1103=	Synonymous	24/27	-	1
12-99117528-G-C	c.3316G>C	p.D1106H	Missense	24/27	-	1
12-99117528-G-T	c.3316G>T	p.D1106Y	Missense	24/27	-	1
12-99117533-G-A	c.3321G>A	p.K1107=	Synonymous	24/27	-	1
12-99117533-G-T	c.3321G>T	p.K1107N	Missense	24/27	-	1
12-99117555-A-G	c.3330+13A>G	-	IntronicSNV	-	24/26	1
12-99119200-G-A	c.3338G>A	p.S1113N	Missense	25/27	-	1
12-99119199-A-C	c.3337A>C	p.S1113R	Missense	25/27	-	1
12-99119201-T-A	c.3339T>A	p.S1113R	Missense	25/27	-	1
12-99119201-T-G	c.3339T>G	p.S1113R	Missense	25/27	-	1
12-99119209-T-C	c.3347T>C	p.L1116P	Missense	25/27	-	2
12-99119209-T-G	c.3347T>G	p.L1116R	Missense	25/27	-	1
12-99119217-C-T	c.3355C>T	p.P1119S	Missense	25/27	-	1
12-99119222-T-C	c.3360T>C	p.L1120=	Synonymous	25/27	-	1
12-99119223-C-G	c.3361C>G	p.H1121D	Missense	25/27	-	1
12-99119243-C-T	c.3381C>T	p.N1127=	Synonymous	25/27	-	2
12-99119244-G-T	c.3382G>T	p.G1128C	Missense	25/27	-	1
12-99119250-GTG-ATC	c.3388_3390delinsATC	p.V1130I	Missense	25/27	-	1
12-99119253-C-T	c.3391C>T	p.R1131C	Missense	25/27	-	1
12-99119254-G-A	c.3392G>A	p.R1131H	Missense	25/27	-	1
12-99119254-GC-AA	c.3392_3393delinsAA	p.R1131Q	Missense	25/27	-	1
12-99119260-C-A	c.3398C>A	p.S1133Y	Missense	25/27	-	1
12-99119274-G-A	c.3412G>A	p.D1138N	Missense	25/27	-	1
12-99119274-G-T	c.3412G>T	p.D1138Y	Missense	25/27	-	1
12-99119275-A-T	c.3413A>T	p.D1138V	Missense	25/27	-	1
12-99119277-A-G	c.3415A>G	p.S1139G	Missense	25/27	-	1
12-99119283-C-T	c.3421C>T	p.L1141=	Synonymous	25/27	-	1
12-99119293-C-A	c.3431C>A	p.T1144K	Missense	25/27	-	1
12-99119293-C-T	c.3431C>T	p.T1144M	Missense	25/27	-	1
12-99119294-G-A	c.3432G>A	p.T1144=	Synonymous	25/27	-	3
12-99119294-G-C	c.3432G>C	p.T1144=	Synonymous	25/27	-	2
12-99119294-G-T	c.3432G>T	p.T1144=	Synonymous	25/27	-	2
12-99119296-GA-AC	c.3434_3435delinsAC	p.G1145D	Missense	25/27	-	1
12-99119298-G-A	c.3436G>A	p.D1146N	Missense	25/27	-	1
12-99119303-C-T	c.3441C>T	p.D1147=	Synonymous	25/27	-	1
12-99119308-G-A	c.3446G>A	p.G1149E	Missense	25/27	-	2
12-99119315-C-T	c.3453C>T	p.I1151=	Synonymous	25/27	-	2
12-99119340-G-A	c.3456+22G>A	-	IntronicSNV	-	25/26	4
12-99119833-T-C	c.3456+515T>C	-	IntronicSNV	-	25/26	2
12-99119833-T-G	c.3456+515T>G	-	IntronicSNV	-	25/26	2
12-99120951-A-G	c.3457A>G	p.I1153V	Missense	26/27	-	3
12-99120954-T-A	c.3460T>A	p.W1154R	Missense	26/27	-	1
12-99120958-A-G	c.3464A>G	p.N1155S	Missense	26/27	-	1
12-99120964-C-A	c.3470C>A	p.S1157*	Nonsense	26/27	-	1
12-99120964-C-G	c.3470C>G	p.S1157*	Nonsense	26/27	-	2
12-99120969-G-A	c.3475G>A	p.G1159S	Missense	26/27	-	1
12-99120978-C-A	c.3484C>A	p.L1162I	Missense	26/27	-	1
12-99120991-C-T	c.3497C>T	p.A1166V	Missense	26/27	-	1
12-99120994-C-A	c.3500C>A	p.P1167Q	Missense	26/27	-	1
12-99120994-C-T	c.3500C>T	p.P1167L	Missense	26/27	-	3
12-99121000-C-T	c.3506C>T	p.S1169L	Missense	26/27	-	1
12-99121006-A-C	c.3512A>C	p.E1171A	Missense	26/27	-	1
12-99121012-C-G	c.3518C>G	p.A1173G	Missense	26/27	-	1
12-99121020-C-T	c.3526C>T	p.H1176Y	Missense	26/27	-	1
12-99121025-A-G	c.3531A>G	p.G1177=	Synonymous	26/27	-	1
12-99121028-C-A	c.3534C>A	p.G1178=	Synonymous	26/27	-	2
12-99121028-C-G	c.3534C>G	p.G1178=	Synonymous	26/27	-	1
12-99121028-C-T	c.3534C>T	p.G1178=	Synonymous	26/27	-	1
12-99121039-A-C	c.3545A>C	p.D1182A	Missense	26/27	-	1
12-99121041-C-T	c.3547C>T	p.L1183F	Missense	26/27	-	3
12-99121056-G-T	c.3562G>T	p.D1188Y	Missense	26/27	-	1
12-99121074-T-TC	c.3581dup	p.A1195Cfs*6	Frameshift	26/27	-	1
12-99121076-T-A	c.3582T>A	p.S1194=	Synonymous	26/27	-	1
12-99121076-T-C	c.3582T>C	p.S1194=	Synonymous	26/27	-	1
12-99121076-T-G	c.3582T>G	p.S1194=	Synonymous	26/27	-	1
12-99121077-G-A	c.3583G>A	p.A1195T	Missense	26/27	-	1
12-99121087-A-G	c.3593A>G	p.Y1198C	Missense	26/27	-	2
12-99121091-TA-T	c.3599del	p.K1200Sfs*34	Frameshift	26/27	-	4
12-99126068-C-T	c.3601-130C>T	-	IntronicSNV	-	26/26	1
12-99126198-T-C	c.3601T>C	p.W1201R	Missense	27/27	-	5
12-99126207-G-A	c.3610G>A	p.V1204I	Missense	27/27	-	1
12-99126212-C-T	c.3615C>T	p.V1205=	Synonymous	27/27	-	2
12-99126216-G-T	c.3619G>T	p.G1207W	Missense	27/27	-	2
12-99126215-T-TG	c.3622dup	p.E1208Gfs*14	Frameshift	27/27	-	1
12-99126223-C-G	c.3626C>G	p.S1209C	Missense	27/27	-	2
12-99126233-C-T	c.3636C>T	p.T1212=	Synonymous	27/27	-	1
12-99126234-T-C	c.3637T>C	p.F1213L	Missense	27/27	-	2
12-99126236-C-A	c.3639C>A	p.F1213L	Missense	27/27	-	2
12-99126236-C-G	c.3639C>G	p.F1213L	Missense	27/27	-	2
12-99126239-C-T	c.3642C>T	p.Y1214=	Synonymous	27/27	-	1
12-99126246-G-A	c.3649G>A	p.G1217R	Missense	27/27	-	1
12-99126246-G-T	c.3649G>T	p.G1217*	Nonsense	27/27	-	1
12-99126253-A-G	c.3656A>G	p.N1219S	Missense	27/27	-	1
12-99126255-C-T	c.3658C>T	p.L1220F	Missense	27/27	-	1
12-99126263-A-G	c.3666A>G	p.K1222=	Synonymous	27/27	-	1
12-99126270-G-A	c.3673G>A	p.V1225M	Missense	27/27	-	5
12-99126273-T-C	c.3676T>C	p.S1226P	Missense	27/27	-	1
12-99126274-C-T	c.3677C>T	p.S1226F	Missense	27/27	-	1
12-99126276-C-T	c.3679C>T	p.P1227S	Missense	27/27	-	1
12-99126285-A-T	c.3688A>T	p.K1230*	Nonsense	27/27	-	1
12-99126290-A-G	c.3693A>G	p.T1231=	Synonymous	27/27	-	2
12-99126297-A-AC	c.3701dup	p.V1235Cfs*3	Frameshift	27/27	-	1
12-99126300-G-A	c.3703G>A	p.V1235M	Missense	27/27	-	1
12-99126318-T-C	c.3721T>C	p.L1241=	Synonymous	27/27	-	1
12-99126320-A-G	c.3723A>G	p.L1241=	Synonymous	27/27	-	1
12-99126322-A-G	c.3725A>G	p.Y1242C	Missense	27/27	-	2
12-99126329-A-G	c.3732A>G	p.L1244=	Synonymous	27/27	-	1
12-99126337-T-C	c.3740T>C	p.L1247S	Missense	27/27	-	1
12-99126347-T-C	c.*3T>C	-	3-UTRSNV	27/27	-	1
12-99127431-T-C	c.*1087T>C	-	3-UTRSNV	27/27	-	2
12-99127431-T-G	c.*1087T>G	-	3-UTRSNV	27/27	-	2
12-99128792-A-G	c.*2448A>G	-	3-UTRSNV	27/27	-	2
12-99128872-G-A	c.*2528G>A	-	3-UTRSNV	27/27	-	1
12-99128872-G-C	c.*2528G>C	-	3-UTRSNV	27/27	-	1
12-99129197-T-C	c.*2853T>C	-	3-UTRSNV	27/27	-	1