ARHGEF1

ARHGEF1 Rho guanine nucleotide exchange factor 1

Annotation transcript: NM_004706.4

1047 unique variant annotations were identified in 303 publications

Gene-Specific Resource Links:

OMIM

Entrez

Ensembl

HGNC

COSMIC

ClinGen

PubMed

GeneReviews

ClinVar

gnomAD v3

gnomAD v2.1

Variant ID	cDot	pDot	Consequence	Exon	Intron	Reference Count
19-42388508-G-A	c.-20+1152G>A	-	intron_variant	-	1/28	1
19-42389280-T-A	c.-20+1924T>A	-	intron_variant	-	1/28	1
19-42392130-T-C	c.-19-5T>C	-	IntronicSNV	-	1/28	3
19-42392136-C-T	c.-18C>T	-	5-UTRSNV	2/29	-	1
19-42392137-C-T	c.-17C>T	-	5-UTRSNV	2/29	-	1
19-42392154-A-G	c.1A>G	p.M1?	Missense	2/29	-	1
19-42392166-G-A	c.13G>A	p.A5T	Missense	2/29	-	1
19-42392166-G-C	c.13G>C	p.A5P	Missense	2/29	-	1
19-42392168-C-T	c.15C>T	p.A5=	Synonymous	2/29	-	1
19-42392170-G-A	c.17G>A	p.R6Q	Missense	2/29	-	4
19-42392170-G-C	c.17G>C	p.R6P	Missense	2/29	-	2
19-42392169-CGAG-C	c.18_20del	p.G7del	InFrameDeletion	2/29	-	1
19-42392174-G-A	c.21G>A	p.G7=	Synonymous	2/29	-	1
19-42392174-G-C	c.21G>C	p.G7=	Synonymous	2/29	-	1
19-42392174-G-T	c.21G>T	p.G7=	Synonymous	2/29	-	1
19-42392176-C-T	c.23C>T	p.A8V	Missense	2/29	-	3
19-42392253-C-G	c.25-10C>G	-	IntronicSNV	-	2/28	1
19-42392266-TC-AA	c.28_29delinsAA	p.S10N	Missense	3/29	-	1
19-42392266-T-G	c.28T>G	p.S10A	Missense	3/29	-	2
19-42392267-C-G	c.29C>G	p.S10C	Missense	3/29	-	2
19-42392267-C-T	c.29C>T	p.S10F	Missense	3/29	-	2
19-42392268-C-A	c.30C>A	p.S10=	Synonymous	3/29	-	1
19-42392268-C-G	c.30C>G	p.S10=	Synonymous	3/29	-	1
19-42392268-C-T	c.30C>T	p.S10=	Synonymous	3/29	-	1
19-42392269-C-A	c.31C>A	p.P11T	Missense	3/29	-	1
19-42392272-G-T	c.34G>T	p.G12C	Missense	3/29	-	1
19-42392273-G-A	c.35G>A	p.G12D	Missense	3/29	-	2
19-42392273-G-T	c.35G>T	p.G12V	Missense	3/29	-	2
19-42392276-C-T	c.38C>T	p.P13L	Missense	3/29	-	1
19-42392280-C-T	c.42C>T	p.S14=	Synonymous	3/29	-	1
19-42392283-G-A	c.45G>A	p.R15=	Synonymous	3/29	-	1
19-42392285-C-T	c.47C>T	p.P16L	Missense	3/29	-	1
19-42392288-G-A	c.50G>A	p.G17D	Missense	3/29	-	2
19-42392288-G-C	c.50G>C	p.G17A	Missense	3/29	-	4
19-42392288-GC-AG	c.50_51delinsAG	p.G17E	Missense	3/29	-	2
19-42392288-G-T	c.50G>T	p.G17V	Missense	3/29	-	3
19-42392292-G-C	c.54G>C	p.L18=	Synonymous	3/29	-	1
19-42392293-G-A	c.55G>A	p.V19I	Missense	3/29	-	1
19-42392293-G-C	c.55G>C	p.V19L	Missense	3/29	-	1
19-42392296-C-T	c.58C>T	p.P20S	Missense	3/29	-	4
19-42392299-G-A	c.61G>A	p.V21I	Missense	3/29	-	1
19-42392299-G-C	c.61G>C	p.V21L	Missense	3/29	-	1
19-42392303-G-T	c.65G>T	p.S22I	Missense	3/29	-	3
19-42392305-A-G	c.67A>G	p.I23V	Missense	3/29	-	1
19-42392309-T-C	c.71T>C	p.I24T	Missense	3/29	-	1
19-42392310-C-T	c.72C>T	p.I24=	Synonymous	3/29	-	7
19-42392311-G-A	c.73G>A	p.G25R	Missense	3/29	-	1
19-42392314-GC-AT	c.76_77delinsAT	p.A26I	Missense	3/29	-	1
19-42392314-GC-TA	c.76_77delinsTA	p.A26Y	Missense	3/29	-	1
19-42392314-GCT-ATG	c.76_78delinsATG	p.A26M	Missense	3/29	-	1
19-42392314-GCT-TAA	c.76_78delinsTAA	p.A26*	Nonsense	3/29	-	1
19-42392317-G-A	c.79G>A	p.E27K	Missense	3/29	-	1
19-42392317-TG-T	c.79del	p.E27Rfs*26	Frameshift	3/29	-	1
19-42392320-G-T	c.82G>T	p.D28Y	Missense	3/29	-	1
19-42392327-A-G	c.89A>G	p.D30G	Missense	3/29	-	1
19-42392332-G-C	c.94G>C	p.E32Q	Missense	3/29	-	3
19-42392337-C-A	c.99C>A	p.N33K	Missense	3/29	-	1
19-42392337-C-G	c.99C>G	p.N33K	Missense	3/29	-	1
19-42392337-C-T	c.99C>T	p.N33=	Synonymous	3/29	-	1
19-42392341-CT-GC	c.103_104delinsGC	p.L35A	Missense	3/29	-	1
19-42392341-CTG-TTT	c.103_105delinsTTT	p.L35F	Missense	3/29	-	1
19-42392344-G-A	c.106G>A	p.E36K	Missense	3/29	-	1
19-42392344-G-C	c.106G>C	p.E36Q	Missense	3/29	-	2
19-42392348-C-T	c.110C>T	p.T37I	Missense	3/29	-	1
19-42392441-T-C	c.111+92T>C	-	IntronicSNV	-	3/28	4
19-42392824-A-G	c.113A>G	p.N38S	Missense	4/29	-	1
19-42392829-G-A	c.118G>A	p.E40K	Missense	4/29	-	1
19-42392832-G-A	c.121G>A	p.E41K	Missense	4/29	-	1
19-42392836-A-G	c.125A>G	p.Q42R	Missense	4/29	-	2
19-42392839-A-C	c.128A>C	p.N43T	Missense	4/29	-	1
19-42392843-C-T	c.132C>T	p.S44=	Synonymous	4/29	-	1
19-42392846-G-A	c.135G>A	p.Q45=	Synonymous	4/29	-	1
19-42392852-G-C	c.141G>C	p.Q47H	Missense	4/29	-	1
19-42392855-CCTG-GATC	c.144_147delinsGATC	p.S48_L49delinsRI	MultiAAMissense	4/29	-	1
19-42392854-G-A	c.143G>A	p.S48N	Missense	4/29	-	1
19-42392855-C-G	c.144C>G	p.S48R	Missense	4/29	-	1
19-42392855-C-T	c.144C>T	p.S48=	Synonymous	4/29	-	2
19-42392856-C-T	c.145C>T	p.L49=	Synonymous	4/29	-	1
19-42392858-G-A	c.147G>A	p.L49=	Synonymous	4/29	-	1
19-42392858-G-C	c.147G>C	p.L49=	Synonymous	4/29	-	1
19-42392858-G-T	c.147G>T	p.L49=	Synonymous	4/29	-	1
19-42392867-G-A	c.156G>A	p.V52=	Synonymous	4/29	-	1
19-42392869-A-G	c.158A>G	p.K53R	Missense	4/29	-	1
19-42392870-G-A	c.159G>A	p.K53=	Synonymous	4/29	-	1
19-42392871-C-A	c.160C>A	p.R54=	Synonymous	4/29	-	1
19-42392871-C-T	c.160C>T	p.R54W	Missense	4/29	-	2
19-42392873-G-A	c.162G>A	p.R54=	Synonymous	4/29	-	1
19-42392873-G-C	c.162G>C	p.R54=	Synonymous	4/29	-	1
19-42392873-G-T	c.162G>T	p.R54=	Synonymous	4/29	-	1
19-42392872-G-T	c.161G>T	p.R54L	Missense	4/29	-	1
19-42392874-CGC-TGA	c.163_165delinsTGA	p.R55*	Nonsense	4/29	-	1
19-42392874-C-T	c.163C>T	p.R55C	Missense	4/29	-	2
19-42392875-G-A	c.164G>A	p.R55H	Missense	4/29	-	3
19-42392876-C-T	c.165C>T	p.R55=	Synonymous	4/29	-	1
19-42392880-G-A	c.169G>A	p.A57T	Missense	4/29	-	1
19-42392885-C-A	c.174C>A	p.H58Q	Missense	4/29	-	1
19-42392888-C-A	c.177C>A	p.L59=	Synonymous	4/29	-	1
19-42392889-A-C	c.178A>C	p.M60L	Missense	4/29	-	1
19-42392889-A-T	c.178A>T	p.M60L	Missense	4/29	-	1
19-42392892-G-A	c.181G>A	p.A61T	Missense	4/29	-	3
19-42392893-C-T	c.182C>T	p.A61V	Missense	4/29	-	1
19-42392895-C-T	c.184C>T	p.L62F	Missense	4/29	-	2
19-42392902-A-T	c.191A>T	p.Q64L	Missense	4/29	-	1
19-42392904-C-T	c.193C>T	p.H65Y	Missense	4/29	-	2
19-42392905-A-G	c.194A>G	p.H65R	Missense	4/29	-	1
19-42392910-G-A	c.199G>A	p.A67T	Missense	4/29	-	1
19-42392911-C-T	c.200C>T	p.A67V	Missense	4/29	-	2
19-42392913-C-G	c.202C>G	p.L68V	Missense	4/29	-	2
19-42392914-T-C	c.203T>C	p.L68P	Missense	4/29	-	1
19-42392916-C-T	c.205C>T	p.Q69*	Nonsense	4/29	-	1
19-42392917-A-T	c.206A>T	p.Q69L	Missense	4/29	-	1
19-42392918-G-A	c.207G>A	p.Q69=	Synonymous	4/29	-	1
19-42392927-A-G	c.216A>G	p.P72=	Synonymous	4/29	-	1
19-42392932-C-T	c.221C>T	p.P74L	Missense	4/29	-	2
19-42393286-A-G	c.225+350A>G	-	IntronicSNV	-	4/28	2
19-42395970-G-A	c.226-126G>A	-	IntronicSNV	-	4/28	1
19-42396097-T-A	c.227T>A	p.L76H	Missense	5/29	-	1
19-42396109-CA-C	c.239del	p.H80Lfs*69	Frameshift	5/29	-	1
19-42396110-T-A	c.240T>A	p.H80Q	Missense	5/29	-	1
19-42396111-GC-TG	c.241_242delinsTG	p.A81C	Missense	5/29	-	1
19-42396113-C-T	c.243C>T	p.A81=	Synonymous	5/29	-	1
19-42396114-G-A	c.244G>A	p.D82N	Missense	5/29	-	2
19-42396120-CTG-TTT	c.250_252delinsTTT	p.L84F	Missense	5/29	-	1
19-42396122-G-A	c.252G>A	p.L84=	Synonymous	5/29	-	1
19-42396123-G-T	c.253G>T	p.G85C	Missense	5/29	-	4
19-42396124-G-T	c.254G>T	p.G85V	Missense	5/29	-	1
19-42396135-C-T	c.265C>T	p.P89S	Missense	5/29	-	2
19-42396136-C-T	c.266C>T	p.P89L	Missense	5/29	-	1
19-42396139-A-G	c.269A>G	p.K90R	Missense	5/29	-	2
19-42396142-A-G	c.272A>G	p.E91G	Missense	5/29	-	1
19-42396144-G-A	c.274G>A	p.A92T	Missense	5/29	-	1
19-42396144-G-C	c.274G>C	p.A92P	Missense	5/29	-	1
19-42396146-C-A	c.276C>A	p.A92=	Synonymous	5/29	-	1
19-42396146-C-G	c.276C>G	p.A92=	Synonymous	5/29	-	1
19-42396146-C-T	c.276C>T	p.A92=	Synonymous	5/29	-	1
19-42396147-A-G	c.277A>G	p.K93E	Missense	5/29	-	1
19-42396148-A-G	c.278A>G	p.K93R	Missense	5/29	-	1
19-42396149-G-C	c.279G>C	p.K93N	Missense	5/29	-	1
19-42396149-G-T	c.279G>T	p.K93N	Missense	5/29	-	1
19-42396152-G-C	c.282G>C	p.K94N	Missense	5/29	-	1
19-42396154-C-T	c.284C>T	p.A95V	Missense	5/29	-	2
19-42396155-C-T	c.285C>T	p.A95=	Synonymous	5/29	-	1
19-42396160-T-C	c.290T>C	p.L97P	Missense	5/29	-	1
19-42396160-TG-AT	c.290_291delinsAT	p.L97H	Missense	5/29	-	1
19-42396162-G-A	c.292G>A	p.D98N	Missense	5/29	-	2
19-42396164-C-T	c.294C>T	p.D98=	Synonymous	5/29	-	1
19-42396179-C-T	c.309C>T	p.F103=	Synonymous	5/29	-	3
19-42396182-G-A	c.312G>A	p.L104=	Synonymous	5/29	-	1
19-42396183-G-A	c.313G>A	p.E105K	Missense	5/29	-	1
19-42396184-A-G	c.314A>G	p.E105G	Missense	5/29	-	2
19-42396185-G-C	c.315G>C	p.E105D	Missense	5/29	-	1
19-42396185-G-T	c.315G>T	p.E105D	Missense	5/29	-	1
19-42396190-AC-A	c.320del	p.T107Kfs*42	Frameshift	5/29	-	1
19-42396190-C-G	c.320C>G	p.T107R	Missense	5/29	-	1
19-42396193-C-T	c.323C>T	p.A108V	Missense	5/29	-	5
19-42396266-G-A	c.324+72G>A	-	IntronicSNV	-	5/28	4
19-42396266-G-C	c.324+72G>C	-	IntronicSNV	-	5/28	3
19-42396293-C-T	c.324+99C>T	-	IntronicSNV	-	5/28	1
19-42396402-G-A	c.325G>A	p.V109I	Missense	6/29	-	1
19-42396403-T-C	c.326T>C	p.V109A	Missense	6/29	-	2
19-42396403-T-G	c.326T>G	p.V109G	Missense	6/29	-	1
19-42396404-T-G	c.327T>G	p.V109=	Synonymous	6/29	-	2
19-42396407-C-T	c.330C>T	p.L110=	Synonymous	6/29	-	1
19-42396408-C-T	c.331C>T	p.R111W	Missense	6/29	-	1
19-42396409-G-A	c.332G>A	p.R111Q	Missense	6/29	-	1
19-42396414-C-T	c.337C>T	p.P113S	Missense	6/29	-	2
19-42396415-C-T	c.338C>T	p.P113L	Missense	6/29	-	1
19-42396417-G-A	c.340G>A	p.V114I	Missense	6/29	-	1
19-42396419-C-G	c.342C>G	p.V114=	Synonymous	6/29	-	1
19-42396420-C-T	c.343C>T	p.P115S	Missense	6/29	-	2
19-42396421-C-T	c.344C>T	p.P115L	Missense	6/29	-	3
19-42396422-T-A	c.345T>A	p.P115=	Synonymous	6/29	-	1
19-42396422-T-C	c.345T>C	p.P115=	Synonymous	6/29	-	1
19-42396422-T-G	c.345T>G	p.P115=	Synonymous	6/29	-	1
19-42396423-C-T	c.346C>T	p.P116S	Missense	6/29	-	1
19-42396427-A-G	c.350A>G	p.N117S	Missense	6/29	-	2
19-42396431-C-T	c.354C>T	p.V118=	Synonymous	6/29	-	1
19-42396434-C-T	c.357C>T	p.A119=	Synonymous	6/29	-	1
19-42396435-T-A	c.358T>A	p.F120I	Missense	6/29	-	1
19-42396437-T-C	c.360T>C	p.F120=	Synonymous	6/29	-	1
19-42396584-A-G	c.368-90A>G	-	IntronicSNV	-	6/28	1
19-42396676-C-T	c.370C>T	p.R124C	Missense	7/29	-	2
19-42396682-AG-CA	c.376_377delinsCA	p.R126Q	Missense	7/29	-	1
19-42396682-AG-TA	c.376_377delinsTA	p.R126*	Nonsense	7/29	-	1
19-42396692-T-C	c.386T>C	p.L129P	Missense	7/29	-	1
19-42396699-C-G	c.393C>G	p.S131=	Synonymous	7/29	-	1
19-42396702-G-C	c.396G>C	p.E132D	Missense	7/29	-	1
19-42396702-G-T	c.396G>T	p.E132D	Missense	7/29	-	1
19-42396708-C-T	c.402C>T	p.V134=	Synonymous	7/29	-	1
19-42396709-C-A	c.403C>A	p.Q135K	Missense	7/29	-	1
19-42396712-CGG-TGT	c.406_408delinsTGT	p.R136C	Missense	7/29	-	1
19-42396712-C-T	c.406C>T	p.R136W	Missense	7/29	-	1
19-42396713-G-A	c.407G>A	p.R136Q	Missense	7/29	-	1
19-42396715-C-T	c.409C>T	p.R137W	Missense	7/29	-	2
19-42396716-G-A	c.410G>A	p.R137Q	Missense	7/29	-	1
19-42396716-G-T	c.410G>T	p.R137L	Missense	7/29	-	1
19-42396720-C-T	c.414C>T	p.F138=	Synonymous	7/29	-	4
19-42396721-G-A	c.415G>A	p.V139M	Missense	7/29	-	1
19-42396721-G-T	c.415G>T	p.V139L	Missense	7/29	-	1
19-42396722-T-C	c.416T>C	p.V139A	Missense	7/29	-	1
19-42396728-AG-A	c.424del	p.V142Wfs*7	Frameshift	7/29	-	1
19-42396730-G-T	c.424G>T	p.V142L	Missense	7/29	-	1
19-42396730-G-GT	c.425dup	p.V143Gfs*150	Frameshift	7/29	-	1
19-42396733-G-C	c.427G>C	p.V143L	Missense	7/29	-	1
19-42396733-G-T	c.427G>T	p.V143L	Missense	7/29	-	1
19-42396748-G-A	c.442G>A	p.V148I	Missense	7/29	-	1
19-42396748-G-C	c.442G>C	p.V148L	Missense	7/29	-	1
19-42396748-G-T	c.442G>T	p.V148L	Missense	7/29	-	1
19-42396752-C-T	c.446C>T	p.A149V	Missense	7/29	-	2
19-42396754-G-A	c.448G>A	p.V150M	Missense	7/29	-	3
19-42396757-G-A	c.451G>A	p.G151S	Missense	7/29	-	2
19-42396758-G-A	c.452G>A	p.G151D	Missense	7/29	-	2
19-42396760-C-T	c.454C>T	p.R152W	Missense	7/29	-	4
19-42396761-G-A	c.455G>A	p.R152Q	Missense	7/29	-	1
19-42396761-G-T	c.455G>T	p.R152L	Missense	7/29	-	2
19-42396773-A-G	c.467A>G	p.D156G	Missense	7/29	-	1
19-42396778-C-T	c.472C>T	p.R158C	Missense	7/29	-	3
19-42396779-G-A	c.473G>A	p.R158H	Missense	7/29	-	1
19-42396780-T-A	c.474T>A	p.R158=	Synonymous	7/29	-	2
19-42396780-T-C	c.474T>C	p.R158=	Synonymous	7/29	-	2
19-42396780-T-G	c.474T>G	p.R158=	Synonymous	7/29	-	2
19-42396781-T-G	c.475T>G	p.S159A	Missense	7/29	-	1
19-42396785-A-G	c.479A>G	p.K160R	Missense	7/29	-	2
19-42396786-G-T	c.480G>T	p.K160N	Missense	7/29	-	1
19-42396787-C-T	c.481C>T	p.R161W	Missense	7/29	-	1
19-42396791-T-C	c.485T>C	p.L162P	Missense	7/29	-	3
19-42396793-A-T	c.487A>T	p.M163L	Missense	7/29	-	1
19-42396795-G-A	c.489G>A	p.M163I	Missense	7/29	-	1
19-42396799-A-G	c.493A>G	p.M165V	Missense	7/29	-	5
19-42396800-T-C	c.494T>C	p.M165T	Missense	7/29	-	1
19-42396806-C-G	c.500C>G	p.P167R	Missense	7/29	-	1
19-42396804-G-GC	c.501dup	p.W168Lfs*125	Frameshift	7/29	-	1
19-42396811-G-T	c.505G>T	p.E169*	Nonsense	7/29	-	1
19-42396813-G-C	c.507G>C	p.E169D	Missense	7/29	-	1
19-42396825-C-T	c.519C>T	p.A173=	Synonymous	7/29	-	3
19-42396829-C-CT	c.524dup	p.E176Gfs*117	Frameshift	7/29	-	1
19-42396841-G-A	c.535G>A	p.V179I	Missense	7/29	-	1
19-42396842-T-C	c.536T>C	p.V179A	Missense	7/29	-	1
19-42396844-G-T	c.538G>T	p.G180W	Missense	7/29	-	1
19-42396848-G-A	c.542G>A	p.R181Q	Missense	7/29	-	1
19-42396849-G-A	c.543G>A	p.R181=	Synonymous	7/29	-	1
19-42396852-C-T	c.546C>T	p.D182=	Synonymous	7/29	-	1
19-42396854-G-A	c.548G>A	p.R183Q	Missense	7/29	-	1
19-42396854-G-C	c.548G>C	p.R183P	Missense	7/29	-	1
19-42396857-C-T	c.551C>T	p.A184V	Missense	7/29	-	1
19-42396861-C-A	c.555C>A	p.S185R	Missense	7/29	-	1
19-42396865-G-T	c.559G>T	p.E187*	Nonsense	7/29	-	3
19-42396867-G-A	c.561G>A	p.E187=	Synonymous	7/29	-	1
19-42396871-CG-TA	c.565_566delinsTA	p.R189*	Nonsense	7/29	-	1
19-42396874-G-A	c.568G>A	p.E190K	Missense	7/29	-	1
19-42396877-CG-TA	c.571_572delinsTA	p.R191*	Nonsense	7/29	-	1
19-42396877-C-T	c.571C>T	p.R191W	Missense	7/29	-	2
19-42396878-G-A	c.572G>A	p.R191Q	Missense	7/29	-	1
19-42396878-G-T	c.572G>T	p.R191L	Missense	7/29	-	1
19-42396879-G-C	c.573G>C	p.R191=	Synonymous	7/29	-	1
19-42396882-C-A	c.576C>A	p.H192Q	Missense	7/29	-	1
19-42396882-C-G	c.576C>G	p.H192Q	Missense	7/29	-	1
19-42396887-C-T	c.581C>T	p.A194V	Missense	7/29	-	2
19-42396888-G-A	c.582G>A	p.A194=	Synonymous	7/29	-	1
19-42396888-G-C	c.582G>C	p.A194=	Synonymous	7/29	-	1
19-42396888-G-T	c.582G>T	p.A194=	Synonymous	7/29	-	1
19-42396889-G-A	c.583G>A	p.E195K	Missense	7/29	-	1
19-42396892-C-T	c.586C>T	p.R196W	Missense	7/29	-	3
19-42396893-G-A	c.587G>A	p.R196Q	Missense	7/29	-	1
19-42396896-T-C	c.590T>C	p.L197P	Missense	7/29	-	1
19-42396910-G-T	c.604G>T	p.E202*	Nonsense	7/29	-	3
19-42396913-G-C	c.607G>C	p.E203Q	Missense	7/29	-	1
19-42396919-C-A	c.613C>A	p.Q205K	Missense	7/29	-	1
19-42396920-A-G	c.614A>G	p.Q205R	Missense	7/29	-	1
19-42396920-A-T	c.614A>T	p.Q205L	Missense	7/29	-	1
19-42396947-G-A	c.614+27G>A	-	IntronicSNV	-	7/28	1
19-42397079-C-T	c.614+159C>T	-	IntronicSNV	-	7/28	1
19-42397352-A-G	c.622A>G	p.I208V	Missense	8/29	-	1
19-42397356-C-T	c.626C>T	p.S209F	Missense	8/29	-	2
19-42397359-C-T	c.629C>T	p.T210I	Missense	8/29	-	1
19-42397361-G-A	c.631G>A	p.D211N	Missense	8/29	-	1
19-42397364-G-C	c.634G>C	p.E212Q	Missense	8/29	-	1
19-42397371-A-AG	c.642dup	p.S215Efs*78	SpliceDonorInsertion	8/29	-	1
19-42397372-G-C	c.642G>C	p.K214N	Missense	8/29	-	1
19-42397372-G-GC	c.642_643insC	p.S215Qfs*78	SpliceDonorInsertion	8/29	-	1
19-42397372-G-GT	c.642_643insT	p.S215*	SpliceDonorInsertion	8/29	-	1
19-42397372-G-T	c.642G>T	p.K214N	Missense	8/29	-	1
19-42397372-G-GA	c.643dup	p.S215Kfs*78	SpliceDonorInsertion	8/29	-	1
19-42397374-G-A	c.644G>A	p.S215N	Missense	8/29	-	1
19-42397411-T-C	c.644+37T>C	-	IntronicSNV	-	8/28	2
19-42397411-T-G	c.644+37T>G	-	IntronicSNV	-	8/28	2
19-42397430-A-G	c.644+56A>G	-	IntronicSNV	-	8/28	1
19-42398194-A-T	c.645-86A>T	-	IntronicSNV	-	8/28	1
19-42398204-T-A	c.645-76T>A	-	IntronicSNV	-	8/28	2
19-42398241-C-G	c.645-39C>G	-	IntronicSNV	-	8/28	2
19-42398241-C-T	c.645-39C>T	-	IntronicSNV	-	8/28	2
19-42398280-GT-G	c.645del	p.S215Rfs*35	Frameshift	9/29	-	1
19-42398281-G-A	c.646G>A	p.A216T	Missense	9/29	-	1
19-42398282-C-A	c.647C>A	p.A216D	Missense	9/29	-	1
19-42398286-C-A	c.651C>A	p.A217=	Synonymous	9/29	-	1
19-42398286-C-G	c.651C>G	p.A217=	Synonymous	9/29	-	1
19-42398286-C-T	c.651C>T	p.A217=	Synonymous	9/29	-	1
19-42398287-G-A	c.652G>A	p.V218M	Missense	9/29	-	1
19-42398287-G-C	c.652G>C	p.V218L	Missense	9/29	-	1
19-42398300-T-C	c.665T>C	p.I222T	Missense	9/29	-	1
19-42398309-A-G	c.674A>G	p.Y225C	Missense	9/29	-	2
19-42398311-A-G	c.676A>G	p.M226V	Missense	9/29	-	1
19-42398313-G-A	c.678G>A	p.M226I	Missense	9/29	-	1
19-42398329-C-A	c.694C>A	p.R232=	Synonymous	9/29	-	1
19-42398331-G-A	c.696G>A	p.R232=	Synonymous	9/29	-	1
19-42398331-G-C	c.696G>C	p.R232=	Synonymous	9/29	-	1
19-42398331-G-T	c.696G>T	p.R232=	Synonymous	9/29	-	1
19-42398330-G-A	c.695G>A	p.R232Q	Missense	9/29	-	1
19-42398338-AGT-TGA	c.703_705delinsTGA	p.S235*	Nonsense	9/29	-	1
19-42398344-G-A	c.709G>A	p.D237N	Missense	9/29	-	1
19-42398345-A-C	c.710A>C	p.D237A	Missense	9/29	-	1
19-42398345-A-T	c.710A>T	p.D237V	Missense	9/29	-	1
19-42398346-C-T	c.711C>T	p.D237=	Synonymous	9/29	-	1
19-42398353-T-C	c.718T>C	p.S240P	Missense	9/29	-	1
19-42398355-G-A	c.720G>A	p.S240=	Synonymous	9/29	-	2
19-42398355-G-C	c.720G>C	p.S240=	Synonymous	9/29	-	2
19-42398355-G-T	c.720G>T	p.S240=	Synonymous	9/29	-	2
19-42398358-G-A	c.723G>A	p.G241=	Synonymous	9/29	-	1
19-42398358-G-C	c.723G>C	p.G241=	Synonymous	9/29	-	1
19-42398358-G-T	c.723G>T	p.G241=	Synonymous	9/29	-	1
19-42398359-AG-CA	c.724_725delinsCA	p.R242Q	Missense	9/29	-	1
19-42398359-AGG-TGT	c.724_726delinsTGT	p.R242C	Missense	9/29	-	2
19-42398360-G-A	c.725G>A	p.R242K	Missense	9/29	-	1
19-42398370-C-T	c.735C>T	p.F245=	Synonymous	9/29	-	2
19-42398371-C-A	c.736C>A	p.R246=	Synonymous	9/29	-	1
19-42398373-G-A	c.738G>A	p.R246=	Synonymous	9/29	-	1
19-42398373-G-C	c.738G>C	p.R246=	Synonymous	9/29	-	1
19-42398373-G-T	c.738G>T	p.R246=	Synonymous	9/29	-	1
19-42398450-T-C	c.744+71T>C	-	IntronicSNV	-	9/28	7
19-42398512-G-A	c.745-12G>A	-	IntronicSNV	-	9/28	1
19-42398525-T-C	c.746T>C	p.V249A	Missense	10/29	-	1
19-42398525-TGATGGGGAACCGGCGGTCGGACGA-T	c.748_771del	p.M250_E257del	InFrameDeletion	10/29	-	1
19-42398536-C-A	c.757C>A	p.R253=	Synonymous	10/29	-	2
19-42398538-G-A	c.759G>A	p.R253=	Synonymous	10/29	-	2
19-42398538-G-C	c.759G>C	p.R253=	Synonymous	10/29	-	2
19-42398538-G-T	c.759G>T	p.R253=	Synonymous	10/29	-	2
19-42398542-T-C	c.763T>C	p.S255P	Missense	10/29	-	1
19-42398542-T-G	c.763T>G	p.S255A	Missense	10/29	-	1
19-42398543-C-T	c.764C>T	p.S255L	Missense	10/29	-	2
19-42398544-G-A	c.765G>A	p.S255=	Synonymous	10/29	-	2
19-42398544-G-C	c.765G>C	p.S255=	Synonymous	10/29	-	1
19-42398544-G-T	c.765G>T	p.S255=	Synonymous	10/29	-	1
19-42398547-C-T	c.768C>T	p.D256=	Synonymous	10/29	-	1
19-42398548-G-A	c.769G>A	p.E257K	Missense	10/29	-	1
19-42398552-C-T	c.773C>T	p.P258L	Missense	10/29	-	2
19-42398554-G-A	c.775G>A	p.A259T	Missense	10/29	-	1
19-42398559-G-A	c.780G>A	p.K260=	Synonymous	10/29	-	1
19-42398564-A-C	c.785A>C	p.K262T	Missense	10/29	-	1
19-42398576-G-A	c.797G>A	p.S266N	Missense	10/29	-	1
19-42398579-G-A	c.800G>A	p.S267N	Missense	10/29	-	1
19-42398580-C-T	c.801C>T	p.S267=	Synonymous	10/29	-	1
19-42398582-T-C	c.803T>C	p.I268T	Missense	10/29	-	1
19-42398594-C-T	c.815C>T	p.A272V	Missense	10/29	-	1
19-42398595-C-T	c.816C>T	p.A272=	Synonymous	10/29	-	1
19-42398596-C-T	c.817C>T	p.R273C	Missense	10/29	-	1
19-42398602-A-G	c.823A>G	p.N275D	Missense	10/29	-	1
19-42398603-A-C	c.824A>C	p.N275T	Missense	10/29	-	1
19-42398605-C-T	c.826C>T	p.R276W	Missense	10/29	-	2
19-42398606-GG-AT	c.827_828delinsAT	p.R276H	Missense	10/29	-	1
19-42398612-A-G	c.833A>G	p.E278G	Missense	10/29	-	1
19-42398614-C-T	c.835C>T	p.P279S	Missense	10/29	-	1
19-42398618-A-C	c.839A>C	p.Q280P	Missense	10/29	-	1
19-42398620-G-A	c.841G>A	p.V281I	Missense	10/29	-	1
19-42398702-C-T	c.845C>T	p.P282L	Missense	11/29	-	1
19-42398710-C-T	c.853C>T	p.R285*	Nonsense	11/29	-	1
19-42398717-T-C	c.860T>C	p.L287P	Missense	11/29	-	1
19-42398719-A-G	c.862A>G	p.K288E	Missense	11/29	-	1
19-42398723-C-T	c.866C>T	p.A289V	Missense	11/29	-	1
19-42398727-G-A	c.870G>A	p.E290=	Synonymous	11/29	-	1
19-42398728-G-A	c.871G>A	p.V291I	Missense	11/29	-	1
19-42398731-G-A	c.874G>A	p.D292N	Missense	11/29	-	1
19-42398769-G-A	c.877+35G>A	-	IntronicSNV	-	11/28	2
19-42398805-GTCTGAGGGAGGAGGGGCTGGGACCTGGACGCCTGGT-G	c.877+88_877+123del	-	IntronicDeletion	-	11/28	1
19-42398841-T-C	c.877+107T>C	-	IntronicSNV	-	11/28	1
19-42398841-T-G	c.877+107T>G	-	IntronicSNV	-	11/28	2
19-42399422-C-A	c.878C>A	p.A293D	Missense	12/29	-	1
19-42399429-G-A	c.885G>A	p.K295=	Synonymous	12/29	-	2
19-42399433-G-C	c.889G>C	p.G297R	Missense	12/29	-	1
19-42399436-G-A	c.892G>A	p.A298T	Missense	12/29	-	1
19-42399436-G-T	c.892G>T	p.A298S	Missense	12/29	-	1
19-42399437-C-T	c.893C>T	p.A298V	Missense	12/29	-	1
19-42399439-A-G	c.895A>G	p.T299A	Missense	12/29	-	1
19-42399440-C-T	c.896C>T	p.T299I	Missense	12/29	-	1
19-42399441-A-C	c.897A>C	p.T299=	Synonymous	12/29	-	1
19-42399441-A-G	c.897A>G	p.T299=	Synonymous	12/29	-	1
19-42399441-A-T	c.897A>T	p.T299=	Synonymous	12/29	-	1
19-42399445-CGG-AGC	c.901_903delinsAGC	p.R301S	Missense	12/29	-	1
19-42399445-C-T	c.901C>T	p.R301W	Missense	12/29	-	2
19-42399446-G-A	c.902G>A	p.R301Q	Missense	12/29	-	2
19-42399451-G-A	c.907G>A	p.G303R	Missense	12/29	-	1
19-42399456-C-A	c.912C>A	p.G304=	Synonymous	12/29	-	1
19-42399456-C-G	c.912C>G	p.G304=	Synonymous	12/29	-	1
19-42399456-C-T	c.912C>T	p.G304=	Synonymous	12/29	-	1
19-42399457-G-A	c.913G>A	p.V305M	Missense	12/29	-	1
19-42399460-G-C	c.916G>C	p.G306R	Missense	12/29	-	1
19-42399461-GGGATGCCCTCTCGGGACCGGAAT-G	c.917_939del	p.G306Dfs*28	Frameshift	12/29	-	1
19-42399463-A-C	c.919A>C	p.M307L	Missense	12/29	-	1
19-42399463-A-T	c.919A>T	p.M307L	Missense	12/29	-	1
19-42399464-T-C	c.920T>C	p.M307T	Missense	12/29	-	1
19-42399466-C-T	c.922C>T	p.P308S	Missense	12/29	-	2
19-42399467-C-A	c.923C>A	p.P308H	Missense	12/29	-	1
19-42399467-C-T	c.923C>T	p.P308L	Missense	12/29	-	4
19-42399470-C-T	c.926C>T	p.S309F	Missense	12/29	-	1
19-42399470-TC-T	c.926del	p.S309Ffs*47	Frameshift	12/29	-	1
19-42399472-CG-TA	c.928_929delinsTA	p.R310*	Nonsense	12/29	-	1
19-42399472-C-T	c.928C>T	p.R310W	Missense	12/29	-	3
19-42399473-G-T	c.929G>T	p.R310L	Missense	12/29	-	1
19-42399474-G-T	c.930G>T	p.R310=	Synonymous	12/29	-	1
19-42399475-G-A	c.931G>A	p.D311N	Missense	12/29	-	1
19-42399479-G-A	c.935G>A	p.R312Q	Missense	12/29	-	1
19-42399486-C-A	c.942C>A	p.I314=	Synonymous	12/29	-	1
19-42399486-C-T	c.942C>T	p.I314=	Synonymous	12/29	-	3
19-42399487-G-A	c.943G>A	p.G315R	Missense	12/29	-	4
19-42399487-G-C	c.943G>C	p.G315R	Missense	12/29	-	4
19-42399493-C-T	c.949C>T	p.P317S	Missense	12/29	-	3
19-42399494-C-T	c.950C>T	p.P317L	Missense	12/29	-	1
19-42399497-GG-AC	c.953_954delinsAC	p.G318D	Missense	12/29	-	1
19-42399498-G-A	c.954G>A	p.G318=	Synonymous	12/29	-	1
19-42399502-G-A	c.958G>A	p.D320N	Missense	12/29	-	1
19-42399510-T-A	c.966T>A	p.P322=	Synonymous	12/29	-	2
19-42399510-T-C	c.966T>C	p.P322=	Synonymous	12/29	-	2
19-42399510-T-G	c.966T>G	p.P322=	Synonymous	12/29	-	2
19-42399512-G-A	c.968G>A	p.G323E	Missense	12/29	-	1
19-42399514-G-A	c.970G>A	p.V324I	Missense	12/29	-	1
19-42399516-C-G	c.972C>G	p.V324=	Synonymous	12/29	-	1
19-42399516-C-T	c.972C>T	p.V324=	Synonymous	12/29	-	1
19-42399517-TC-AA	c.973_974delinsAA	p.S325N	Missense	12/29	-	1
19-42399518-C-T	c.974C>T	p.S325F	Missense	12/29	-	3
19-42399523-C-A	c.979C>A	p.H327N	Missense	12/29	-	1
19-42399527-C-T	c.983C>T	p.P328L	Missense	12/29	-	2
19-42399533-C-T	c.989C>T	p.S330F	Missense	12/29	-	1
19-42399534-C-T	c.990C>T	p.S330=	Synonymous	12/29	-	1
19-42399535-C-G	c.991C>G	p.L331V	Missense	12/29	-	1
19-42399536-T-A	c.992T>A	p.L331Q	Missense	12/29	-	1
19-42399539-A-G	c.995A>G	p.D332G	Missense	12/29	-	1
19-42399547-G-A	c.1003G>A	p.D335N	Missense	12/29	-	2
19-42399629-G-A	c.1015+70G>A	-	IntronicSNV	-	12/28	1
19-42399634-C-T	c.1015+75C>T	-	IntronicSNV	-	12/28	1
19-42400227-A-G	c.1016-223A>G	-	IntronicSNV	-	12/28	1
19-42400406-G-GC	c.1016-42dup	-	IntronicInsertion	-	12/28	5
19-42400455-G-A	c.1021G>A	p.D341N	Missense	13/29	-	1
19-42400457-C-T	c.1023C>T	p.D341=	Synonymous	13/29	-	3
19-42400459-C-G	c.1025C>G	p.A342G	Missense	13/29	-	1
19-42400459-C-T	c.1025C>T	p.A342V	Missense	13/29	-	1
19-42400461-C-T	c.1027C>T	p.P343S	Missense	13/29	-	2
19-42400462-C-A	c.1028C>A	p.P343H	Missense	13/29	-	1
19-42400458-GC-G	c.1030del	p.L344Wfs*12	Frameshift	13/29	-	3
19-42400458-G-GC	c.1030dup	p.L344Pfs*37	Frameshift	13/29	-	1
19-42400467-G-A	c.1033G>A	p.E345K	Missense	13/29	-	1
19-42400469-G-T	c.1035G>T	p.E345D	Missense	13/29	-	1
19-42400470-C-A	c.1036C>A	p.L346M	Missense	13/29	-	1
19-42400471-T-G	c.1037T>G	p.L346R	Missense	13/29	-	1
19-42400472-G-C	c.1038G>C	p.L346=	Synonymous	13/29	-	1
19-42400481-A-T	c.1047A>T	p.S349=	Synonymous	13/29	-	1
19-42400482-T-G	c.1048T>G	p.S350A	Missense	13/29	-	1
19-42400483-C-T	c.1049C>T	p.S350F	Missense	13/29	-	1
19-42400484-C-A	c.1050C>A	p.S350=	Synonymous	13/29	-	1
19-42400484-C-G	c.1050C>G	p.S350=	Synonymous	13/29	-	1
19-42400484-C-T	c.1050C>T	p.S350=	Synonymous	13/29	-	1
19-42400485-C-G	c.1051C>G	p.P351A	Missense	13/29	-	3
19-42400485-C-T	c.1051C>T	p.P351S	Missense	13/29	-	2
19-42400487-G-A	c.1053G>A	p.P351=	Synonymous	13/29	-	1
19-42400493-C-T	c.1059C>T	p.G353=	Synonymous	13/29	-	1
19-42400498-T-C	c.1064T>C	p.M355T	Missense	13/29	-	1
19-42400501-G-A	c.1067G>A	p.S356N	Missense	13/29	-	2
19-42400504-T-G	c.1070T>G	p.L357R	Missense	13/29	-	1
19-42400504-T-TC	c.1070_1071insC	p.E358Gfs*23	Frameshift	13/29	-	1
19-42400507-A-G	c.1073A>G	p.E358G	Missense	13/29	-	1
19-42400509-GT-G	c.1075del	p.S359Pfs*57	Frameshift	13/29	-	1
19-42400511-C-T	c.1077C>T	p.S359=	Synonymous	13/29	-	1
19-42400516-C-T	c.1082C>T	p.A361V	Missense	13/29	-	3
19-42400518-C-T	c.1084C>T	p.P362S	Missense	13/29	-	2
19-42400524-G-A	c.1090G>A	p.E364K	Missense	13/29	-	1
19-42400527-AG-CT	c.1093_1094inv	p.S365L	Missense	13/29	-	1
19-42400528-G-A	c.1094G>A	p.S365N	Missense	13/29	-	3
19-42400528-G-C	c.1094G>C	p.S365T	Missense	13/29	-	1
19-42400529-T-C	c.1095T>C	p.S365=	Synonymous	13/29	-	1
19-42400532-C-A	c.1098C>A	p.T366=	Synonymous	13/29	-	1
19-42400532-C-G	c.1098C>G	p.T366=	Synonymous	13/29	-	1
19-42400532-C-T	c.1098C>T	p.T366=	Synonymous	13/29	-	1
19-42400533-G-T	c.1099G>T	p.D367Y	Missense	13/29	-	1
19-42400535-C-CG	c.1102dup	p.E368Gfs*13	Frameshift	13/29	-	1
19-42400541-G-T	c.1107G>T	p.G369=	Synonymous	13/29	-	1
19-42400545-G-A	c.1111G>A	p.E371K	Missense	13/29	-	2
19-42400555-G-T	c.1121G>T	p.S374I	Missense	13/29	-	2
19-42400789-C-T	c.1121+234C>T	-	IntronicSNV	-	13/28	2
19-42401166-T-A	c.1121+611T>A	-	IntronicSNV	-	13/28	1
19-42401166-T-C	c.1121+611T>C	-	IntronicSNV	-	13/28	1
19-42402253-G-A	c.1122-338G>A	-	IntronicSNV	-	13/28	1
19-42402256-G-A	c.1122-335G>A	-	IntronicSNV	-	13/28	1
19-42402591-C-T	c.1122C>T	p.S374=	Synonymous	14/29	-	2
19-42402592-C-A	c.1123C>A	p.P375T	Missense	14/29	-	1
19-42402593-C-T	c.1124C>T	p.P375L	Missense	14/29	-	10
19-42402595-G-A	c.1126G>A	p.E376K	Missense	14/29	-	2
19-42402595-G-C	c.1126G>C	p.E376Q	Missense	14/29	-	2
19-42402595-G-T	c.1126G>T	p.E376*	Nonsense	14/29	-	3
19-42402598-C-T	c.1129C>T	p.P377S	Missense	14/29	-	2
19-42402616-C-T	c.1147C>T	p.P383S	Missense	14/29	-	1
19-42402617-C-T	c.1148C>T	p.P383L	Missense	14/29	-	1
19-42402618-G-A	c.1149G>A	p.P383=	Synonymous	14/29	-	1
19-42402618-G-C	c.1149G>C	p.P383=	Synonymous	14/29	-	1
19-42402618-G-T	c.1149G>T	p.P383=	Synonymous	14/29	-	2
19-42402622-CGG-TGT	c.1153_1155delinsTGT	p.R385C	Missense	14/29	-	2
19-42402622-C-T	c.1153C>T	p.R385W	Missense	14/29	-	1
19-42402626-C-G	c.1157C>G	p.S386W	Missense	14/29	-	1
19-42402626-C-T	c.1157C>T	p.S386L	Missense	14/29	-	1
19-42402629-G-A	c.1160G>A	p.G387E	Missense	14/29	-	2
19-42402634-G-A	c.1165G>A	p.E389K	Missense	14/29	-	1
19-42402637-C-T	c.1168C>T	p.L390F	Missense	14/29	-	1
19-42402637-CT-AG	c.1168_1169inv	p.L390S	Missense	14/29	-	1
19-42402638-T-C	c.1169T>C	p.L390P	Missense	14/29	-	1
19-42402640-G-A	c.1171G>A	p.E391K	Missense	14/29	-	2
19-42402640-G-T	c.1171G>T	p.E391*	Nonsense	14/29	-	1
19-42402643-C-T	c.1174C>T	p.P392S	Missense	14/29	-	1
19-42402654-T-A	c.1185T>A	p.P395=	Synonymous	14/29	-	1
19-42402654-T-C	c.1185T>C	p.P395=	Synonymous	14/29	-	1
19-42402654-T-G	c.1185T>G	p.P395=	Synonymous	14/29	-	1
19-42402656-C-A	c.1187C>A	p.P396H	Missense	14/29	-	1
19-42402659-G-A	c.1190G>A	p.G397D	Missense	14/29	-	1
19-42402664-C-T	c.1195C>T	p.R399W	Missense	14/29	-	1
19-42402667-G-A	c.1198G>A	p.E400K	Missense	14/29	-	1
19-42402672-C-T	c.1203C>T	p.L401=	Synonymous	14/29	-	2
19-42402673-GTC-ATG	c.1204_1206delinsATG	p.V402M	Missense	14/29	-	1
19-42402675-C-T	c.1206C>T	p.V402=	Synonymous	14/29	-	1
19-42402677-C-T	c.1208C>T	p.P403L	Missense	14/29	-	6
19-42402678-C-G	c.1209C>G	p.P403=	Synonymous	14/29	-	5
19-42402678-C-T	c.1209C>T	p.P403=	Synonymous	14/29	-	3
19-42402679-C-T	c.1210C>T	p.P404S	Missense	14/29	-	2
19-42402680-C-A	c.1211C>A	p.P404Q	Missense	14/29	-	1
19-42402686-C-A	c.1217C>A	p.T406N	Missense	14/29	-	1
19-42402688-C-T	c.1219C>T	p.L407=	Synonymous	14/29	-	2
19-42402690-G-A	c.1221G>A	p.L407=	Synonymous	14/29	-	2
19-42402690-G-C	c.1221G>C	p.L407=	Synonymous	14/29	-	2
19-42402690-G-T	c.1221G>T	p.L407=	Synonymous	14/29	-	2
19-42402695-G-A	c.1226G>A	p.S409N	Missense	14/29	-	1
19-42402697-C-G	c.1228C>G	p.L410V	Missense	14/29	-	1
19-42402702-C-A	c.1233C>A	p.P411=	Synonymous	14/29	-	1
19-42402702-C-G	c.1233C>G	p.P411=	Synonymous	14/29	-	1
19-42402702-C-T	c.1233C>T	p.P411=	Synonymous	14/29	-	1
19-42402708-C-T	c.1239C>T	p.S413=	Synonymous	14/29	-	2
19-42402709-C-T	c.1240C>T	p.Q414*	Nonsense	14/29	-	1
19-42402713-T-G	c.1244T>G	p.V415G	Missense	14/29	-	1
19-42402715-A-T	c.1246A>T	p.K416*	Nonsense	14/29	-	1
19-42402718-CGG-TGT	c.1249_1251delinsTGT	p.R417C	Missense	14/29	-	2
19-42402718-C-T	c.1249C>T	p.R417W	Missense	14/29	-	1
19-42402723-G-C	c.1254G>C	p.Q418H	Missense	14/29	-	1
19-42402729-C-A	c.1260C>A	p.V420=	Synonymous	14/29	-	1
19-42402729-C-G	c.1260C>G	p.V420=	Synonymous	14/29	-	1
19-42402729-C-T	c.1260C>T	p.V420=	Synonymous	14/29	-	1
19-42402736-G-A	c.1267G>A	p.E423K	Missense	14/29	-	3
19-42406043-T-A	c.1274T>A	p.L425Q	Missense	15/29	-	1
19-42406044-G-T	c.1275G>T	p.L425=	Synonymous	15/29	-	1
19-42406045-GTG-ATC	c.1276_1278delinsATC	p.V426I	Missense	15/29	-	1
19-42406049-C-T	c.1280C>T	p.T427I	Missense	15/29	-	1
19-42406056-G-T	c.1287G>T	p.A429=	Synonymous	15/29	-	1
19-42406057-G-A	c.1288G>A	p.A430T	Missense	15/29	-	2
19-42406060-C-A	c.1291C>A	p.H431N	Missense	15/29	-	1
19-42406068-C-A	c.1299C>A	p.R433=	Synonymous	15/29	-	1
19-42406079-T-G	c.1310T>G	p.V437G	Missense	15/29	-	1
19-42406081-C-T	c.1312C>T	p.L438=	Synonymous	15/29	-	1
19-42406083-G-A	c.1314G>A	p.L438=	Synonymous	15/29	-	1
19-42406083-G-C	c.1314G>C	p.L438=	Synonymous	15/29	-	1
19-42406083-G-T	c.1314G>T	p.L438=	Synonymous	15/29	-	1
19-42406086-C-T	c.1317C>T	p.H439=	Synonymous	15/29	-	1
19-42406094-T-A	c.1325T>A	p.F442Y	Missense	15/29	-	1
19-42406094-T-C	c.1325T>C	p.F442S	Missense	15/29	-	1
19-42406107-G-A	c.1338G>A	p.M446I	Missense	15/29	-	1
19-42406112-A-G	c.1343A>G	p.E448G	Missense	15/29	-	1
19-42406125-C-T	c.1356C>T	p.F452=	Synonymous	15/29	-	2
19-42406127-C-T	c.1358C>T	p.P453L	Missense	15/29	-	2
19-42406136-AGCT-A	c.1370_1372del	p.L457del	InFrameDeletion	15/29	-	1
19-42406145-A-G	c.1376A>G	p.N459S	Missense	15/29	-	2
19-42406152-C-T	c.1383C>T	p.F461=	Synonymous	15/29	-	1
19-42406154-C-T	c.1385C>T	p.P462L	Missense	15/29	-	1
19-42406165-G-A	c.1396G>A	p.E466K	Missense	15/29	-	1
19-42406167-G-A	c.1398G>A	p.E466=	Synonymous	15/29	-	1
19-42406169-T-C	c.1400T>C	p.L467P	Missense	15/29	-	1
19-42406173-C-T	c.1404C>T	p.I468=	Synonymous	15/29	-	1
19-42406174-G-T	c.1405G>T	p.E469*	Nonsense	15/29	-	1
19-42406179-G-T	c.1410G>T	p.V470=	Synonymous	15/29	-	1
19-42406181-A-T	c.1412A>T	p.H471L	Missense	15/29	-	1
19-42406182-T-A	c.1413T>A	p.H471Q	Missense	15/29	-	1
19-42406182-T-G	c.1413T>G	p.H471Q	Missense	15/29	-	1
19-42406190-GCAGAGCCAGGGTCCCTCTGTGTACCCCACTGCCCCA-G	c.1414+9_1414+44del	-	IntronicDeletion	-	15/28	1
19-42406425-C-T	c.1416C>T	p.S472=	Synonymous	16/29	-	1
19-42406431-C-T	c.1422C>T	p.F474=	Synonymous	16/29	-	1
19-42406432-C-T	c.1423C>T	p.L475F	Missense	16/29	-	1
19-42406438-C-T	c.1429C>T	p.R477C	Missense	16/29	-	3
19-42406442-CT-C	c.1433del	p.L478Rfs*2	Frameshift	16/29	-	1
19-42406448-A-G	c.1439A>G	p.K480R	Missense	16/29	-	1
19-42406450-C-A	c.1441C>A	p.R481=	Synonymous	16/29	-	2
19-42406450-CGG-TGT	c.1441_1443delinsTGT	p.R481C	Missense	16/29	-	1
19-42406450-C-T	c.1441C>T	p.R481W	Missense	16/29	-	1
19-42406452-G-A	c.1443G>A	p.R481=	Synonymous	16/29	-	2
19-42406452-G-C	c.1443G>C	p.R481=	Synonymous	16/29	-	2
19-42406452-G-T	c.1443G>T	p.R481=	Synonymous	16/29	-	2
19-42406451-G-A	c.1442G>A	p.R481Q	Missense	16/29	-	1
19-42406459-G-A	c.1450G>A	p.E484K	Missense	16/29	-	1
19-42406460-A-C	c.1451A>C	p.E484A	Missense	16/29	-	1
19-42406466-G-A	c.1457G>A	p.G486D	Missense	16/29	-	1
19-42406466-G-C	c.1457G>C	p.G486A	Missense	16/29	-	1
19-42406467-C-A	c.1458C>A	p.G486=	Synonymous	16/29	-	1
19-42406467-C-G	c.1458C>G	p.G486=	Synonymous	16/29	-	1
19-42406467-C-T	c.1458C>T	p.G486=	Synonymous	16/29	-	1
19-42406469-A-C	c.1460A>C	p.Y487S	Missense	16/29	-	2
19-42406469-A-G	c.1460A>G	p.Y487C	Missense	16/29	-	2
19-42406476-CGAG-C	c.1471_1473del	p.E491del	InFrameDeletion	16/29	-	1
19-42406480-G-A	c.1471G>A	p.E491K	Missense	16/29	-	1
19-42406480-G-C	c.1471G>C	p.E491Q	Missense	16/29	-	1
19-42406486-G-A	c.1477G>A	p.G493R	Missense	16/29	-	1
19-42406486-G-C	c.1477G>C	p.G493R	Missense	16/29	-	1
19-42406489-G-T	c.1480G>T	p.D494Y	Missense	16/29	-	1
19-42406491-C-G	c.1482C>G	p.D494E	Missense	16/29	-	1
19-42406491-C-T	c.1482C>T	p.D494=	Synonymous	16/29	-	1
19-42406492-G-A	c.1483G>A	p.V495M	Missense	16/29	-	1
19-42406494-G-A	c.1485G>A	p.V495=	Synonymous	16/29	-	1
19-42406494-G-C	c.1485G>C	p.V495=	Synonymous	16/29	-	1
19-42406494-G-T	c.1485G>T	p.V495=	Synonymous	16/29	-	1
19-42406500-G-A	c.1491G>A	p.L497=	Synonymous	16/29	-	1
19-42406505-G-T	c.1496G>T	p.R499L	Missense	16/29	-	1
19-42406506-G-A	c.1497G>A	p.R499=	Synonymous	16/29	-	3
19-42406693-C-T	c.1508C>T	p.A503V	Missense	17/29	-	1
19-42406695-G-A	c.1510G>A	p.E504K	Missense	17/29	-	1
19-42406697-G-A	c.1512G>A	p.E504=	Synonymous	17/29	-	1
19-42406697-G-T	c.1512G>T	p.E504D	Missense	17/29	-	1
19-42406698-G-C	c.1513G>C	p.G505R	Missense	17/29	-	1
19-42406698-GGGC-G	c.1513_1515del	p.G505del	InFrameDeletion	17/29	-	1
19-42406699-GC-AG	c.1514_1515delinsAG	p.G505E	Missense	17/29	-	1
19-42406707-T-C	c.1522T>C	p.F508L	Missense	17/29	-	2
19-42406708-T-A	c.1523T>A	p.F508Y	Missense	17/29	-	2
19-42406709-C-T	c.1524C>T	p.F508=	Synonymous	17/29	-	2
19-42406712-G-A	c.1527G>A	p.Q509=	Synonymous	17/29	-	1
19-42406717-AT-A	c.1532del	p.I511Tfs*13	Frameshift	17/29	-	1
19-42406719-TC-GG	c.1534_1535delinsGG	p.S512G	Missense	17/29	-	1
19-42406721-C-T	c.1536C>T	p.S512=	Synonymous	17/29	-	1
19-42406722-TC-AT	c.1537_1538delinsAT	p.S513I	Missense	17/29	-	1
19-42406723-C-T	c.1538C>T	p.S513F	Missense	17/29	-	2
19-42406726-G-T	c.1541G>T	p.R514L	Missense	17/29	-	1
19-42406727-C-A	c.1542C>A	p.R514=	Synonymous	17/29	-	2
19-42406727-C-G	c.1542C>G	p.R514=	Synonymous	17/29	-	3
19-42406727-C-T	c.1542C>T	p.R514=	Synonymous	17/29	-	3
19-42406733-C-T	c.1548C>T	p.C516=	Synonymous	17/29	-	1
19-42406737-CGC-TGA	c.1552_1554delinsTGA	p.R518*	Nonsense	17/29	-	1
19-42406737-C-T	c.1552C>T	p.R518C	Missense	17/29	-	1
19-42406738-G-A	c.1553G>A	p.R518H	Missense	17/29	-	2
19-42406740-C-A	c.1555C>A	p.Q519K	Missense	17/29	-	1
19-42406741-A-G	c.1556A>G	p.Q519R	Missense	17/29	-	1
19-42406743-T-C	c.1558T>C	p.S520P	Missense	17/29	-	1
19-42406749-G-C	c.1564G>C	p.A522P	Missense	17/29	-	1
19-42406753-T-A	c.1568T>A	p.L523*	Nonsense	17/29	-	1
19-42406755-G-A	c.1570G>A	p.E524K	Missense	17/29	-	1
19-42406755-G-C	c.1570G>C	p.E524Q	Missense	17/29	-	1
19-42406762-CT-C	c.1577del	p.L526Pfs*29	Frameshift	17/29	-	1
19-42406765-A-T	c.1580A>T	p.K527I	Missense	17/29	-	1
19-42406769-C-A	c.1584C>A	p.A528=	Synonymous	17/29	-	1
19-42406769-C-G	c.1584C>G	p.A528=	Synonymous	17/29	-	1
19-42406769-C-T	c.1584C>T	p.A528=	Synonymous	17/29	-	1
19-42406771-A-G	c.1586A>G	p.K529R	Missense	17/29	-	1
19-42406777-G-A	c.1592G>A	p.R531H	Missense	17/29	-	3
19-42406777-GC-AA	c.1592_1593delinsAA	p.R531Q	Missense	17/29	-	1
19-42406778-C-T	c.1593C>T	p.R531=	Synonymous	17/29	-	2
19-42406779-A-G	c.1594A>G	p.K532E	Missense	17/29	-	1
19-42406783-A-T	c.1598A>T	p.D533V	Missense	17/29	-	1
19-42406784-C-T	c.1599C>T	p.D533=	Synonymous	17/29	-	1
19-42406785-C-T	c.1600C>T	p.P534S	Missense	17/29	-	1
19-42406788-C-T	c.1603C>T	p.R535W	Missense	17/29	-	1
19-42406793-C-T	c.1608C>T	p.F536=	Synonymous	17/29	-	1
19-42406802-C-T	c.1617C>T	p.F539=	Synonymous	17/29	-	1
19-42406806-C-G	c.1621C>G	p.Q541E	Missense	17/29	-	3
19-42406808-G-C	c.1623G>C	p.Q541H	Missense	17/29	-	1
19-42406934-G-A	c.1624G>A	p.E542K	Missense	18/29	-	3
19-42406940-G-A	c.1630G>A	p.E544K	Missense	18/29	-	1
19-42406943-AG-CT	c.1633_1634inv	p.S545L	Missense	18/29	-	1
19-42406946-C-T	c.1636C>T	p.R546C	Missense	18/29	-	2
19-42406947-G-A	c.1637G>A	p.R546H	Missense	18/29	-	1
19-42406949-C-A	c.1639C>A	p.P547T	Missense	18/29	-	1
19-42406949-C-CAGGAGTCTACAGAACGAGGGAAAGTGGAGCTTGCAGCTGAGTGCTGCCGGGAGATTCTGCACCATGTCAATCAA	c.1639_1640insAGGAGTCTACAGAACGAGGGAAAGTGGAGCTTGCAGCTGAGTGCTGCCGGGAGATTCTGCACCATGTCAATCAA	p.P547Qfs*33	Frameshift	18/29	-	1
19-42406949-C-T	c.1639C>T	p.P547S	Missense	18/29	-	1
19-42406952-C-T	c.1642C>T	p.R548W	Missense	18/29	-	1
19-42406959-G-A	c.1649G>A	p.R550H	Missense	18/29	-	3
19-42406959-GC-AA	c.1649_1650delinsAA	p.R550Q	Missense	18/29	-	1
19-42406962-G-A	c.1652G>A	p.R551H	Missense	18/29	-	1
19-42406965-T-G	c.1655T>G	p.L552R	Missense	18/29	-	1
19-42406968-A-T	c.1658A>T	p.Q553L	Missense	18/29	-	1
19-42406969-G-C	c.1659G>C	p.Q553H	Missense	18/29	-	2
19-42406969-G-T	c.1659G>T	p.Q553H	Missense	18/29	-	1
19-42406974-A-C	c.1664A>C	p.K555T	Missense	18/29	-	1
19-42406978-C-A	c.1668C>A	p.D556E	Missense	18/29	-	1
19-42406978-C-T	c.1668C>T	p.D556=	Synonymous	18/29	-	1
19-42406981-G-A	c.1671G>A	p.M557I	Missense	18/29	-	1
19-42406986-C-T	c.1676C>T	p.P559L	Missense	18/29	-	2
19-42406992-A-C	c.1682A>C	p.E561A	Missense	18/29	-	1
19-42406993-G-A	c.1683G>A	p.E561=	Synonymous	18/29	-	1
19-42406996-G-A	c.1686G>A	p.M562I	Missense	18/29	-	1
19-42406997-C-T	c.1687C>T	p.Q563*	Nonsense	18/29	-	3
19-42406998-A-C	c.1688A>C	p.Q563P	Missense	18/29	-	1
19-42407001-G-A	c.1691G>A	p.R564Q	Missense	18/29	-	2
19-42407006-A-T	c.1696A>T	p.T566S	Missense	18/29	-	1
19-42407007-C-A	c.1697C>A	p.T566N	Missense	18/29	-	1
19-42407008-C-T	c.1698C>T	p.T566=	Synonymous	18/29	-	1
19-42407012-T-G	c.1702T>G	p.Y568D	Missense	18/29	-	1
19-42407013-A-T	c.1703A>T	p.Y568F	Missense	18/29	-	1
19-42407013-AC-A	c.1708del	p.L570Cfs*44	Frameshift	18/29	-	1
19-42407021-C-T	c.1711C>T	p.L571F	Missense	18/29	-	4
19-42407023-C-G	c.1713C>G	p.L571=	Synonymous	18/29	-	1
19-42407023-C-T	c.1713C>T	p.L571=	Synonymous	18/29	-	1
19-42407024-C-G	c.1714C>G	p.L572V	Missense	18/29	-	1
19-42407036-G-A	c.1726G>A	p.G576R	Missense	18/29	-	1
19-42407039-C-A	c.1729C>A	p.Q577K	Missense	18/29	-	1
19-42407045-A-C	c.1735A>C	p.T579P	Missense	18/29	-	1
19-42407046-C-T	c.1736C>T	p.T579I	Missense	18/29	-	1
19-42407048-G-GAGGAGTCTACAGAACGAGGGAAAGTGGAGCTTGCAGCTGAGTGCTGCCGGGAGATTCTGCACCATGTCAATCAA	c.1738_1738+1insAGGAGTCTACAGAACGAGGGAAAGTGGAGCTTGCAGCTGAGTGCTGCCGGGAGATTCTGCACCATGTCAATCAA	p.P582Sfs*57	SpliceDonorInsertion	-	-	1
19-42407459-G-A	c.1741G>A	p.E581K	Missense	19/29	-	1
19-42407462-C-A	c.1744C>A	p.P582T	Missense	19/29	-	1
19-42407463-C-T	c.1745C>T	p.P582L	Missense	19/29	-	1
19-42407472-GG-AT	c.1754_1755delinsAT	p.R585H	Missense	19/29	-	2
19-42407476-G-A	c.1758G>A	p.E586=	Synonymous	19/29	-	1
19-42407485-G-C	c.1767G>C	p.E589D	Missense	19/29	-	1
19-42407485-G-T	c.1767G>T	p.E589D	Missense	19/29	-	1
19-42407486-C-G	c.1768C>G	p.L590V	Missense	19/29	-	1
19-42407486-CTG-TTT	c.1768_1770delinsTTT	p.L590F	Missense	19/29	-	1
19-42407489-G-A	c.1771G>A	p.A591T	Missense	19/29	-	1
19-42407495-G-A	c.1777G>A	p.E593K	Missense	19/29	-	3
19-42407495-G-T	c.1777G>T	p.E593*	Nonsense	19/29	-	1
19-42407499-G-C	c.1781G>C	p.C594S	Missense	19/29	-	1
19-42407501-T-TAGGAGTCTACAGAACGAGGGAAAGTGGAGCTTGCAGCTGAGTGCTGCCGGGAGATTCTGCACCATGTCAATCAA	c.1783_1784insAGGAGTCTACAGAACGAGGGAAAGTGGAGCTTGCAGCTGAGTGCTGCCGGGAGATTCTGCACCATGTCAATCAA	p.C595*	Nonsense	19/29	-	1
19-42407506-G-A	c.1788G>A	p.R596=	Synonymous	19/29	-	1
19-42407513-C-A	c.1795C>A	p.L599I	Missense	19/29	-	1
19-42407513-CTA-TTT	c.1795_1797delinsTTT	p.L599F	Missense	19/29	-	1
19-42407518-C-A	c.1800C>A	p.H600Q	Missense	19/29	-	1
19-42407518-C-G	c.1800C>G	p.H600Q	Missense	19/29	-	1
19-42407520-A-G	c.1802A>G	p.H601R	Missense	19/29	-	3
19-42407521-C-A	c.1803C>A	p.H601Q	Missense	19/29	-	1
19-42407528-C-T	c.1810C>T	p.Q604*	Nonsense	19/29	-	2
19-42407529-A-G	c.1811A>G	p.Q604R	Missense	19/29	-	1
19-42407537-C-A	c.1819C>A	p.R607S	Missense	19/29	-	1
19-42407537-C-T	c.1819C>T	p.R607C	Missense	19/29	-	2
19-42407545-G-A	c.1827G>A	p.M609I	Missense	19/29	-	1
19-42407545-G-C	c.1827G>C	p.M609I	Missense	19/29	-	1
19-42407545-G-T	c.1827G>T	p.M609I	Missense	19/29	-	1
19-42407551-C-A	c.1833C>A	p.D611E	Missense	19/29	-	1
19-42407551-C-G	c.1833C>G	p.D611E	Missense	19/29	-	1
19-42407556-T-A	c.1838T>A	p.L613Q	Missense	19/29	-	1
19-42407634-A-T	c.1839+77A>T	-	IntronicSNV	-	19/28	1
19-42407864-C-A	c.1845C>A	p.L615=	Synonymous	20/29	-	1
19-42407864-C-G	c.1845C>G	p.L615=	Synonymous	20/29	-	1
19-42407864-C-T	c.1845C>T	p.L615=	Synonymous	20/29	-	1
19-42407872-A-G	c.1853A>G	p.Y618C	Missense	20/29	-	2
19-42407875-A-G	c.1856A>G	p.Q619R	Missense	20/29	-	1
19-42407878-G-A	c.1859G>A	p.R620Q	Missense	20/29	-	3
19-42407896-A-G	c.1877A>G	p.H626R	Missense	20/29	-	1
19-42407901-C-T	c.1882C>T	p.R628W	Missense	20/29	-	3
19-42407905-A-T	c.1886A>T	p.Q629L	Missense	20/29	-	1
19-42407916-C-T	c.1897C>T	p.P633S	Missense	20/29	-	1
19-42407922-C-T	c.1903C>T	p.L635=	Synonymous	20/29	-	1
19-42407937-G-A	c.1917+1G>A	-	IntronicSNV	-	20/28	1
19-42408044-C-T	c.1917+108C>T	-	IntronicSNV	-	20/28	1
19-42408187-A-G	c.1918A>G	p.N640D	Missense	21/29	-	1
19-42408193-G-A	c.1924G>A	p.D642N	Missense	21/29	-	1
19-42408196-A-G	c.1927A>G	p.I643V	Missense	21/29	-	1
19-42408215-T-G	c.1946T>G	p.V649G	Missense	21/29	-	1
19-42408216-C-T	c.1947C>T	p.V649=	Synonymous	21/29	-	1
19-42408220-G-C	c.1951G>C	p.E651Q	Missense	21/29	-	1
19-42408224-G-C	c.1955G>C	p.G652A	Missense	21/29	-	1
19-42408229-C-T	c.1960C>T	p.L654=	Synonymous	21/29	-	1
19-42408231-G-A	c.1962G>A	p.L654=	Synonymous	21/29	-	1
19-42408231-G-C	c.1962G>C	p.L654=	Synonymous	21/29	-	1
19-42408231-G-T	c.1962G>T	p.L654=	Synonymous	21/29	-	1
19-42408233-C-T	c.1964C>T	p.T655M	Missense	21/29	-	4
19-42408234-G-A	c.1965G>A	p.T655=	Synonymous	21/29	-	1
19-42408238-C-T	c.1969C>T	p.R657W	Missense	21/29	-	1
19-42408240-G-A	c.1971G>A	p.R657=	Synonymous	21/29	-	1
19-42408241-G-A	c.1972G>A	p.V658M	Missense	21/29	-	1
19-42408245-C-T	c.1976C>T	p.T659I	Missense	21/29	-	1
19-42408247-TAAG-T	c.1978_1980del	p.K660del	InFrameDeletion	21/29	-	1
19-42408250-G-T	c.1981G>T	p.D661Y	Missense	21/29	-	1
19-42408253-CAAG-C	c.1984_1986del	p.K662del	InFrameDeletion	21/29	-	1
19-42408262-G-A	c.1993G>A	p.E665K	Missense	21/29	-	1
19-42408304-G-A	c.1993+42G>A	-	IntronicSNV	-	21/28	1
19-42408370-G-A	c.1996G>A	p.V666M	Missense	22/29	-	1
19-42408379-C-T	c.2005C>T	p.L669=	Synonymous	22/29	-	1
19-42408381-G-A	c.2007G>A	p.L669=	Synonymous	22/29	-	1
19-42408381-G-C	c.2007G>C	p.L669=	Synonymous	22/29	-	1
19-42408381-G-T	c.2007G>T	p.L669=	Synonymous	22/29	-	1
19-42408388-G-T	c.2014G>T	p.D672Y	Missense	22/29	-	1
19-42408391-G-A	c.2017G>A	p.D673N	Missense	22/29	-	1
19-42408403-C-A	c.2029C>A	p.L677M	Missense	22/29	-	1
19-42408410-A-C	c.2036A>C	p.Q679P	Missense	22/29	-	1
19-42408412-C-A	c.2038C>A	p.R680S	Missense	22/29	-	1
19-42408414-C-T	c.2040C>T	p.R680=	Synonymous	22/29	-	1
19-42408418-G-A	c.2044G>A	p.D682N	Missense	22/29	-	1
19-42408420-C-A	c.2046C>A	p.D682E	Missense	22/29	-	1
19-42408420-C-T	c.2046C>T	p.D682=	Synonymous	22/29	-	1
19-42408426-G-A	c.2052G>A	p.R684=	Synonymous	22/29	-	1
19-42408426-G-C	c.2052G>C	p.R684=	Synonymous	22/29	-	1
19-42408438-G-A	c.2064G>A	p.K688=	Synonymous	22/29	-	1
19-42408439-T-G	c.2065T>G	p.S689A	Missense	22/29	-	1
19-42408440-C-G	c.2066C>G	p.S689C	Missense	22/29	-	1
19-42408445-AG-CT	c.2071_2072inv	p.S691L	Missense	22/29	-	1
19-42408448-CG-AA	c.2074_2075delinsAA	p.R692K	Missense	22/29	-	1
19-42408452-C-T	c.2078C>T	p.T693I	Missense	22/29	-	1
19-42408458-C-A	c.2084C>A	p.T695K	Missense	22/29	-	1
19-42408458-C-T	c.2084C>T	p.T695M	Missense	22/29	-	1
19-42408459-G-A	c.2085G>A	p.T695=	Synonymous	22/29	-	1
19-42408459-G-C	c.2085G>C	p.T695=	Synonymous	22/29	-	1
19-42408459-G-T	c.2085G>T	p.T695=	Synonymous	22/29	-	1
19-42408460-C-T	c.2086C>T	p.P696S	Missense	22/29	-	1
19-42408461-C-A	c.2087C>A	p.P696H	Missense	22/29	-	1
19-42408461-C-T	c.2087C>T	p.P696L	Missense	22/29	-	1
19-42408462-C-A	c.2088C>A	p.P696=	Synonymous	22/29	-	1
19-42408462-C-G	c.2088C>G	p.P696=	Synonymous	22/29	-	1
19-42408462-C-T	c.2088C>T	p.P696=	Synonymous	22/29	-	1
19-42408466-C-A	c.2092C>A	p.P698T	Missense	22/29	-	1
19-42408468-C-A	c.2094C>A	p.P698=	Synonymous	22/29	-	1
19-42408468-C-G	c.2094C>G	p.P698=	Synonymous	22/29	-	1
19-42408468-C-T	c.2094C>T	p.P698=	Synonymous	22/29	-	1
19-42408469-G-C	c.2095G>C	p.D699H	Missense	22/29	-	2
19-42408470-A-T	c.2096A>T	p.D699V	Missense	22/29	-	1
19-42408472-G-A	c.2098G>A	p.G700S	Missense	22/29	-	1
19-42408488-G-A	c.2114G>A	p.R705Q	Missense	22/29	-	1
19-42408489-G-A	c.2115G>A	p.R705=	Synonymous	22/29	-	1
19-42408491-C-T	c.2117C>T	p.P706L	Missense	22/29	-	1
19-42408499-C-T	c.2125C>T	p.R709W	Missense	22/29	-	1
19-42408506-CC-GG	c.2132_2133inv	p.T711R	Missense	22/29	-	1
19-42408506-CCT-C	c.2134_2135del	p.S712Rfs*45	Frameshift	22/29	-	1
19-42408509-C-T	c.2135C>T	p.S712F	Missense	22/29	-	1
19-42408512-C-A	c.2138C>A	p.A713D	Missense	22/29	-	1
19-42408521-G-A	c.2147G>A	p.R716H	Missense	22/29	-	1
19-42408523-G-A	c.2149G>A	p.E717K	Missense	22/29	-	1
19-42408523-G-T	c.2149G>T	p.E717*	Nonsense	22/29	-	2
19-42408543-C-T	c.2161+8C>T	-	IntronicSNV	-	22/28	1
19-42409039-T-C	c.2162-62T>C	-	IntronicSNV	-	22/28	2
19-42409114-C-T	c.2175C>T	p.F725=	Synonymous	23/29	-	3
19-42409116-A-G	c.2177A>G	p.Y726C	Missense	23/29	-	1
19-42409118-G-A	c.2179G>A	p.V727I	Missense	23/29	-	1
19-42409121-C-T	c.2182C>T	p.L728F	Missense	23/29	-	1
19-42409134-A-T	c.2195A>T	p.D732V	Missense	23/29	-	1
19-42409139-G-A	c.2200G>A	p.E734K	Missense	23/29	-	1
19-42409144-C-G	c.2205C>G	p.A735=	Synonymous	23/29	-	1
19-42409144-C-T	c.2205C>T	p.A735=	Synonymous	23/29	-	2
19-42409147-G-A	c.2208G>A	p.Q736=	Synonymous	23/29	-	1
19-42409151-T-C	c.2212T>C	p.Y738H	Missense	23/29	-	1
19-42409153-C-A	c.2214C>A	p.Y738*	Nonsense	23/29	-	1
19-42409153-C-G	c.2214C>G	p.Y738*	Nonsense	23/29	-	1
19-42409156-G-T	c.2217G>T	p.E739D	Missense	23/29	-	1
19-42409166-C-T	c.2227C>T	p.Q743*	Nonsense	23/29	-	1
19-42409170-CTG-C	c.2235_2236del	p.S746Gfs*11	Frameshift	23/29	-	1
19-42409176-C-A	c.2237C>A	p.S746*	Nonsense	23/29	-	1
19-42409176-C-T	c.2237C>T	p.S746L	Missense	23/29	-	1
19-42409181-C-T	c.2242C>T	p.R748W	Missense	23/29	-	1
19-42409329-G-C	c.2252G>C	p.W751S	Missense	24/29	-	1
19-42409336-T-C	c.2259T>C	p.A753=	Synonymous	24/29	-	2
19-42409336-T-G	c.2259T>G	p.A753=	Synonymous	24/29	-	2
19-42409347-A-C	c.2270A>C	p.E757A	Missense	24/29	-	1
19-42409354-CCG-C	c.2277_2278del	p.G760Ifs*12	Frameshift	24/29	-	1
19-42409355-G-A	c.2278G>A	p.G760R	Missense	24/29	-	1
19-42409355-G-C	c.2278G>C	p.G760R	Missense	24/29	-	1
19-42409358-TC-CT	c.2281_2282delinsCT	p.S761L	Missense	24/29	-	1
19-42409361-C-T	c.2284C>T	p.L762=	Synonymous	24/29	-	2
19-42409363-G-A	c.2286G>A	p.L762=	Synonymous	24/29	-	3
19-42409363-G-C	c.2286G>C	p.L762=	Synonymous	24/29	-	2
19-42409363-G-T	c.2286G>T	p.L762=	Synonymous	24/29	-	2
19-42409369-C-G	c.2292C>G	p.V764=	Synonymous	24/29	-	1
19-42409377-C-T	c.2300C>T	p.P767L	Missense	24/29	-	1
19-42409379-G-A	c.2302G>A	p.A768T	Missense	24/29	-	1
19-42409381-C-A	c.2304C>A	p.A768=	Synonymous	24/29	-	1
19-42409381-C-G	c.2304C>G	p.A768=	Synonymous	24/29	-	1
19-42409381-C-T	c.2304C>T	p.A768=	Synonymous	24/29	-	1
19-42409389-C-T	c.2312C>T	p.P771L	Missense	24/29	-	1
19-42409394-C-T	c.2317C>T	p.P773S	Missense	24/29	-	4
19-42409401-C-A	c.2324C>A	p.P775H	Missense	24/29	-	1
19-42409401-C-T	c.2324C>T	p.P775L	Missense	24/29	-	2
19-42409403-A-G	c.2326A>G	p.S776G	Missense	24/29	-	1
19-42409405-C-T	c.2328C>T	p.S776=	Synonymous	24/29	-	1
19-42409407-C-A	c.2330C>A	p.P777Q	Missense	24/29	-	1
19-42409407-C-T	c.2330C>T	p.P777L	Missense	24/29	-	1
19-42409420-G-C	c.2336+7G>C	-	IntronicSNV	-	24/28	1
19-42409420-G-T	c.2336+7G>T	-	IntronicSNV	-	24/28	1
19-42409915-C-A	c.2340C>A	p.T780=	Synonymous	25/29	-	1
19-42409915-C-G	c.2340C>G	p.T780=	Synonymous	25/29	-	1
19-42409915-C-T	c.2340C>T	p.T780=	Synonymous	25/29	-	2
19-42409919-G-T	c.2344G>T	p.E782*	Nonsense	25/29	-	1
19-42409922-C-T	c.2347C>T	p.P783S	Missense	25/29	-	2
19-42409924-C-A	c.2349C>A	p.P783=	Synonymous	25/29	-	1
19-42409925-C-T	c.2350C>T	p.L784F	Missense	25/29	-	1
19-42409932-G-T	c.2357G>T	p.S786I	Missense	25/29	-	1
19-42409933-C-T	c.2358C>T	p.S786=	Synonymous	25/29	-	1
19-42409934-A-C	c.2359A>C	p.S787R	Missense	25/29	-	1
19-42409936-C-A	c.2361C>A	p.S787R	Missense	25/29	-	1
19-42409936-C-G	c.2361C>G	p.S787R	Missense	25/29	-	1
19-42409936-C-T	c.2361C>T	p.S787=	Synonymous	25/29	-	1
19-42409938-C-T	c.2363C>T	p.S788F	Missense	25/29	-	1
19-42409945-C-T	c.2370C>T	p.N790=	Synonymous	25/29	-	2
19-42409947-G-A	c.2372G>A	p.G791D	Missense	25/29	-	1
19-42409950-A-G	c.2375A>G	p.N792S	Missense	25/29	-	2
19-42409958-CGA-TGG	c.2383_2385delinsTGG	p.R795W	Missense	25/29	-	1
19-42409958-C-T	c.2383C>T	p.R795*	Nonsense	25/29	-	3
19-42409961-G-C	c.2386G>C	p.E796Q	Missense	25/29	-	1
19-42409965-C-T	c.2390C>T	p.T797M	Missense	25/29	-	1
19-42409966-G-A	c.2391G>A	p.T797=	Synonymous	25/29	-	3
19-42409966-G-C	c.2391G>C	p.T797=	Synonymous	25/29	-	1
19-42409966-G-T	c.2391G>T	p.T797=	Synonymous	25/29	-	1
19-42409968-C-T	c.2393C>T	p.S798F	Missense	25/29	-	1
19-42409970-C-T	c.2395C>T	p.P799S	Missense	25/29	-	2
19-42409976-G-C	c.2401G>C	p.D801H	Missense	25/29	-	1
19-42409977-A-C	c.2402A>C	p.D801A	Missense	25/29	-	1
19-42409979-G-C	c.2404G>C	p.A802P	Missense	25/29	-	1
19-42409987-C-T	c.2404+8C>T	-	IntronicSNV	-	25/28	1
19-42410088-C-A	c.2405-3C>A	-	IntronicSNV	-	25/28	1
19-42410094-G-A	c.2408G>A	p.R803Q	Missense	26/29	-	2
19-42410098-C-A	c.2412C>A	p.T804=	Synonymous	26/29	-	1
19-42410098-C-G	c.2412C>G	p.T804=	Synonymous	26/29	-	3
19-42410098-C-T	c.2412C>T	p.T804=	Synonymous	26/29	-	3
19-42410099-G-A	c.2413G>A	p.E805K	Missense	26/29	-	2
19-42410103-G-A	c.2417G>A	p.R806K	Missense	26/29	-	1
19-42410117-C-G	c.2431C>G	p.L811V	Missense	26/29	-	1
19-42410117-C-T	c.2431C>T	p.L811F	Missense	26/29	-	1
19-42410119-C-T	c.2433C>T	p.L811=	Synonymous	26/29	-	2
19-42410122-G-A	c.2436G>A	p.L812=	Synonymous	26/29	-	2
19-42410125-C-A	c.2439C>A	p.P813=	Synonymous	26/29	-	1
19-42410126-T-A	c.2440T>A	p.F814I	Missense	26/29	-	1
19-42410129-T-C	c.2443T>C	p.C815R	Missense	26/29	-	1
19-42410130-G-A	c.2444G>A	p.C815Y	Missense	26/29	-	2
19-42410132-AGA-TGG	c.2446_2448delinsTGG	p.R816W	Missense	26/29	-	1
19-42410133-G-A	c.2447G>A	p.R816K	Missense	26/29	-	1
19-42410132-A-C	c.2446A>C	p.R816=	Synonymous	26/29	-	1
19-42410134-A-G	c.2448A>G	p.R816=	Synonymous	26/29	-	1
19-42410143-C-A	c.2457C>A	p.P819=	Synonymous	26/29	-	1
19-42410143-C-G	c.2457C>G	p.P819=	Synonymous	26/29	-	1
19-42410143-C-T	c.2457C>T	p.P819=	Synonymous	26/29	-	2
19-42410144-G-A	c.2458G>A	p.E820K	Missense	26/29	-	1
19-42410150-C-T	c.2464C>T	p.Q822*	Nonsense	26/29	-	2
19-42410160-C-T	c.2474C>T	p.A825V	Missense	26/29	-	1
19-42410163-C-T	c.2477C>T	p.T826M	Missense	26/29	-	1
19-42410164-G-A	c.2478G>A	p.T826=	Synonymous	26/29	-	1
19-42410165-G-C	c.2479G>C	p.A827P	Missense	26/29	-	1
19-42410171-C-T	c.2485C>T	p.R829W	Missense	26/29	-	1
19-42410172-G-A	c.2486G>A	p.R829Q	Missense	26/29	-	3
19-42410177-G-A	c.2491G>A	p.V831M	Missense	26/29	-	4
19-42410177-G-T	c.2491G>T	p.V831L	Missense	26/29	-	1
19-42410331-G-A	c.2491+154G>A	-	IntronicSNV	-	26/28	3
19-42410591-C-T	c.2492-18C>T	-	IntronicSNV	-	26/28	1
19-42410616-C-A	c.2499C>A	p.S833=	Synonymous	27/29	-	1
19-42410623-C-G	c.2506C>G	p.Q836E	Missense	27/29	-	6
19-42410623-C-T	c.2506C>T	p.Q836*	Nonsense	27/29	-	4
19-42410635-C-G	c.2518C>G	p.P840A	Missense	27/29	-	1
19-42410635-C-T	c.2518C>T	p.P840S	Missense	27/29	-	1
19-42410636-C-T	c.2519C>T	p.P840L	Missense	27/29	-	2
19-42410638-G-A	c.2521G>A	p.A841T	Missense	27/29	-	5
19-42410639-C-T	c.2522C>T	p.A841V	Missense	27/29	-	1
19-42410644-G-A	c.2527G>A	p.E843K	Missense	27/29	-	2
19-42410647-G-A	c.2530G>A	p.D844N	Missense	27/29	-	1
19-42410647-G-T	c.2530G>T	p.D844Y	Missense	27/29	-	4
19-42410651-A-G	c.2534A>G	p.N845S	Missense	27/29	-	1
19-42410654-G-T	c.2537G>T	p.G846V	Missense	27/29	-	1
19-42410655-G-A	c.2538G>A	p.G846=	Synonymous	27/29	-	1
19-42410655-G-C	c.2538G>C	p.G846=	Synonymous	27/29	-	1
19-42410655-G-T	c.2538G>T	p.G846=	Synonymous	27/29	-	1
19-42410657-C-T	c.2540C>T	p.A847V	Missense	27/29	-	1
19-42410659-G-A	c.2542G>A	p.G848R	Missense	27/29	-	1
19-42410659-G-C	c.2542G>C	p.G848R	Missense	27/29	-	1
19-42410665-C-T	c.2548C>T	p.P850S	Missense	27/29	-	1
19-42410668-C-T	c.2551C>T	p.R851*	Nonsense	27/29	-	1
19-42410669-G-A	c.2552G>A	p.R851Q	Missense	27/29	-	1
19-42410669-G-C	c.2552G>C	p.R851P	Missense	27/29	-	1
19-42410669-G-T	c.2552G>T	p.R851L	Missense	27/29	-	1
19-42410674-G-T	c.2557G>T	p.G853W	Missense	27/29	-	1
19-42410679-T-TGCG	c.2563_2564insCGG	p.D854_G855insA	InFrameInsertion	27/29	-	1
19-42410682-G-A	c.2565G>A	p.G855=	Synonymous	27/29	-	1
19-42410683-G-A	c.2566G>A	p.V856I	Missense	27/29	-	2
19-42410687-C-T	c.2570C>T	p.P857L	Missense	27/29	-	1
19-42410689-G-A	c.2572G>A	p.G858R	Missense	27/29	-	1
19-42410689-GGG-AGC	c.2572_2574delinsAGC	p.G858S	Missense	27/29	-	2
19-42410690-G-A	c.2573G>A	p.G858E	Missense	27/29	-	1
19-42410690-G-T	c.2573G>T	p.G858V	Missense	27/29	-	1
19-42410691-G-T	c.2574G>T	p.G858=	Synonymous	27/29	-	1
19-42410692-G-C	c.2575G>C	p.G859R	Missense	27/29	-	1
19-42410692-G-T	c.2575G>T	p.G859C	Missense	27/29	-	1
19-42410688-AG-A	c.2576del	p.G859Afs*4	Frameshift	27/29	-	2
19-42410693-G-A	c.2576G>A	p.G859D	Missense	27/29	-	1
19-42410694-C-A	c.2577C>A	p.G859=	Synonymous	27/29	-	1
19-42410694-C-T	c.2577C>T	p.G859=	Synonymous	27/29	-	2
19-42410695-G-A	c.2578G>A	p.G860S	Missense	27/29	-	1
19-42410698-CC-TT	c.2581_2582delinsTT	p.P861F	Missense	27/29	-	1
19-42410698-C-T	c.2581C>T	p.P861S	Missense	27/29	-	1
19-42410699-C-T	c.2582C>T	p.P861L	Missense	27/29	-	2
19-42410696-GC-G	c.2584del	p.L862*	Frameshift	27/29	-	1
19-42410701-C-G	c.2584C>G	p.L862V	Missense	27/29	-	1
19-42410703-G-A	c.2586G>A	p.L862=	Synonymous	27/29	-	2
19-42410705-G-A	c.2588G>A	p.S863N	Missense	27/29	-	1
19-42410707-C-A	c.2590C>A	p.P864T	Missense	27/29	-	1
19-42410708-CA-AT	c.2591_2592delinsAT	p.P864H	Missense	27/29	-	1
19-42410708-C-T	c.2591C>T	p.P864L	Missense	27/29	-	3
19-42410710-G-A	c.2593G>A	p.A865T	Missense	27/29	-	1
19-42410710-G-T	c.2593G>T	p.A865S	Missense	27/29	-	1
19-42410713-C-G	c.2596C>G	p.R866G	Missense	27/29	-	2
19-42410713-C-T	c.2596C>T	p.R866W	Missense	27/29	-	2
19-42410714-G-A	c.2597G>A	p.R866Q	Missense	27/29	-	4
19-42410714-G-C	c.2597G>C	p.R866P	Missense	27/29	-	1
19-42410714-G-T	c.2597G>T	p.R866L	Missense	27/29	-	1
19-42410724-A-C	c.2607A>C	p.E869D	Missense	27/29	-	1
19-42410727-C-T	c.2610C>T	p.I870=	Synonymous	27/29	-	1
19-42410728-C-A	c.2611C>A	p.Q871K	Missense	27/29	-	1
19-42410730-G-T	c.2613G>T	p.Q871H	Missense	27/29	-	1
19-42410737-C-T	c.2620C>T	p.L874=	Synonymous	27/29	-	1
19-42410739-G-A	c.2622G>A	p.L874=	Synonymous	27/29	-	1
19-42410739-G-C	c.2622G>C	p.L874=	Synonymous	27/29	-	1
19-42410739-G-T	c.2622G>T	p.L874=	Synonymous	27/29	-	1
19-42410744-G-A	c.2627G>A	p.S876N	Missense	27/29	-	2
19-42410748-G-A	c.2631G>A	p.L877=	Synonymous	27/29	-	1
19-42410749-G-C	c.2632G>C	p.E878Q	Missense	27/29	-	1
19-42410750-A-C	c.2633A>C	p.E878A	Missense	27/29	-	1
19-42410752-G-A	c.2635G>A	p.E879K	Missense	27/29	-	1
19-42410752-G-T	c.2635G>T	p.E879*	Nonsense	27/29	-	3
19-42410761-A-C	c.2644A>C	p.K882Q	Missense	27/29	-	1
19-42410766-G-A	c.2649G>A	p.Q883=	Synonymous	27/29	-	1
19-42410768-TG-T	c.2653del	p.E885Rfs*10	Frameshift	27/29	-	1
19-42410774-T-C	c.2655+2T>C	-	IntronicSNV	-	27/28	1
19-42410847-C-A	c.2656-8C>A	-	IntronicSNV	-	27/28	1
19-42410876-C-T	c.2677C>T	p.R893C	Missense	28/29	-	1
19-42410877-G-A	c.2678G>A	p.R893H	Missense	28/29	-	1
19-42410878-C-T	c.2679C>T	p.R893=	Synonymous	28/29	-	1
19-42410886-C-T	c.2687C>T	p.P896L	Missense	28/29	-	1
19-42410887-C-T	c.2688C>T	p.P896=	Synonymous	28/29	-	1
19-42410888-C-T	c.2689C>T	p.L897F	Missense	28/29	-	1
19-42410890-C-T	c.2691C>T	p.L897=	Synonymous	28/29	-	1
19-42410900-C-T	c.2701C>T	p.L901F	Missense	28/29	-	1
19-42410903-G-T	c.2704G>T	p.G902W	Missense	28/29	-	1
19-42410904-G-A	c.2705G>A	p.G902E	Missense	28/29	-	1
19-42410918-CC-TT	c.2719_2720delinsTT	p.P907F	Missense	28/29	-	1
19-42410919-C-T	c.2720C>T	p.P907L	Missense	28/29	-	1
19-42410921-C-A	c.2722C>A	p.Q908K	Missense	28/29	-	2
19-42410921-C-T	c.2722C>T	p.Q908*	Nonsense	28/29	-	3
19-42410923-G-A	c.2724G>A	p.Q908=	Synonymous	28/29	-	3
19-42410924-C-A	c.2725C>A	p.P909T	Missense	28/29	-	2
19-42410925-C-T	c.2726C>T	p.P909L	Missense	28/29	-	2
19-42410927-GGC-TGG	c.2728_2730delinsTGG	p.G910W	Missense	28/29	-	1
19-42410928-G-C	c.2729G>C	p.G910A	Missense	28/29	-	1
19-42410946-G-A	c.*8G>A	-	3-UTRSNV	28/29	-	1
19-42411070-C-T	c.*132C>T	-	IntronicSNV	29/29	-	1
19-42411072-A-T	c.*17+117A>T	-	IntronicSNV	-	28/28	1
19-42411111-G-T	c.*173G>T	-	IntronicSNV	29/29	-	1
19-42411324-G-A	c.*85G>A	-	3_prime_UTR_variant	29/29	-	1
19-42411324-G-C	c.*85G>C	-	3_prime_UTR_variant	29/29	-	1
19-42411405-C-T	c.*166C>T	-	3_prime_UTR_variant	29/29	-	1
19-42411486-C-T	c.*247C>T	-	3_prime_UTR_variant	29/29	-	1
19-42411549-C-G	c.*310C>G	-	3_prime_UTR_variant	29/29	-	1