PPP2R3A

PPP2R3A protein phosphatase 2 regulatory subunit B''alpha

Annotation transcript: NM_002718.5

1159 unique variant annotations were identified in 458 publications

Gene-Specific Resource Links:

OMIM

Entrez

Ensembl

HGNC

COSMIC

ClinGen

PubMed

GeneReviews

ClinVar

gnomAD v3

gnomAD v2.1

Variant ID	cDot	pDot	Consequence	Exon	Intron	Reference Count
3-135692220-C-G	c.-441+7529C>G	-	intron_variant	-	1/13	1
3-135692220-C-T	c.-441+7529C>T	-	intron_variant	-	1/13	1
3-135699877-C-T	c.-441+15186C>T	-	intron_variant	-	1/13	2
3-135710843-G-A	c.-440-9058G>A	-	IntronicSNV	-	1/13	1
3-135714901-C-T	c.-440-5000C>T	-	IntronicSNV	-	1/13	1
3-135720241-T-C	c.-100T>C	-	5-UTRSNV	2/14	-	7
3-135720348-C-G	c.8C>G	p.A3G	Missense	2/14	-	1
3-135720359-C-T	c.19C>T	p.L7F	Missense	2/14	-	2
3-135720362-G-A	c.22G>A	p.V8M	Missense	2/14	-	1
3-135720365-G-A	c.25G>A	p.V9I	Missense	2/14	-	1
3-135720365-G-C	c.25G>C	p.V9L	Missense	2/14	-	1
3-135720365-G-T	c.25G>T	p.V9F	Missense	2/14	-	1
3-135720368-AG-GC	c.28_29delinsGC	p.S10A	Missense	2/14	-	1
3-135720368-A-T	c.28A>T	p.S10C	Missense	2/14	-	1
3-135720371-A-G	c.31A>G	p.T11A	Missense	2/14	-	1
3-135720377-A-C	c.37A>C	p.N13H	Missense	2/14	-	1
3-135720379-C-T	c.39C>T	p.N13=	Synonymous	2/14	-	1
3-135720380-C-A	c.40C>A	p.H14N	Missense	2/14	-	1
3-135720389-AG-CT	c.49_50inv	p.S17L	Missense	2/14	-	1
3-135720391-C-T	c.51C>T	p.S17=	Synonymous	2/14	-	1
3-135720392-G-A	c.52G>A	p.V18M	Missense	2/14	-	1
3-135720396-T-C	c.56T>C	p.V19A	Missense	2/14	-	1
3-135720401-G-T	c.61G>T	p.D21Y	Missense	2/14	-	1
3-135720404-CGG-TGT	c.64_66delinsTGT	p.R22C	Missense	2/14	-	1
3-135720404-C-T	c.64C>T	p.R22W	Missense	2/14	-	1
3-135720405-G-A	c.65G>A	p.R22Q	Missense	2/14	-	3
3-135720405-G-T	c.65G>T	p.R22L	Missense	2/14	-	2
3-135720406-G-C	c.66G>C	p.R22=	Synonymous	2/14	-	1
3-135720407-C-T	c.67C>T	p.R23C	Missense	2/14	-	1
3-135720408-G-A	c.68G>A	p.R23H	Missense	2/14	-	3
3-135720419-GC-AA	c.79_80delinsAA	p.A27N	Missense	2/14	-	1
3-135720419-GCT-AAG	c.79_81delinsAAG	p.A27K	Missense	2/14	-	1
3-135720421-T-A	c.81T>A	p.A27=	Synonymous	2/14	-	1
3-135720421-T-C	c.81T>C	p.A27=	Synonymous	2/14	-	1
3-135720421-T-G	c.81T>G	p.A27=	Synonymous	2/14	-	1
3-135720424-A-G	c.84A>G	p.I28M	Missense	2/14	-	1
3-135720428-T-G	c.88T>G	p.Y30D	Missense	2/14	-	1
3-135720433-C-CAA	c.94_95insAA	p.T32Kfs*38	Frameshift	2/14	-	1
3-135720439-A-C	c.99A>C	p.G33=	Synonymous	2/14	-	1
3-135720439-A-G	c.99A>G	p.G33=	Synonymous	2/14	-	1
3-135720439-A-T	c.99A>T	p.G33=	Synonymous	2/14	-	1
3-135720440-A-C	c.100A>C	p.T34P	Missense	2/14	-	1
3-135720446-C-T	c.106C>T	p.H36Y	Missense	2/14	-	4
3-135720449-A-G	c.109A>G	p.T37A	Missense	2/14	-	1
3-135720457-A-C	c.117A>C	p.T39=	Synonymous	2/14	-	1
3-135720457-A-G	c.117A>G	p.T39=	Synonymous	2/14	-	1
3-135720457-A-T	c.117A>T	p.T39=	Synonymous	2/14	-	1
3-135720467-G-A	c.127G>A	p.D43N	Missense	2/14	-	1
3-135720467-G-C	c.127G>C	p.D43H	Missense	2/14	-	1
3-135720476-G-A	c.136G>A	p.V46M	Missense	2/14	-	1
3-135720478-G-A	c.138G>A	p.V46=	Synonymous	2/14	-	1
3-135720482-C-T	c.142C>T	p.H48Y	Missense	2/14	-	1
3-135720484-C-A	c.144C>A	p.H48Q	Missense	2/14	-	1
3-135720484-C-G	c.144C>G	p.H48Q	Missense	2/14	-	1
3-135720486-A-C	c.146A>C	p.H49P	Missense	2/14	-	1
3-135720486-A-T	c.146A>T	p.H49L	Missense	2/14	-	1
3-135720488-AG-CT	c.148_149inv	p.S50L	Missense	2/14	-	1
3-135720489-G-A	c.149G>A	p.S50N	Missense	2/14	-	1
3-135720494-T-G	c.154T>G	p.C52G	Missense	2/14	-	1
3-135720497-G-A	c.157G>A	p.A53T	Missense	2/14	-	3
3-135720497-GC-AT	c.157_158delinsAT	p.A53I	Missense	2/14	-	1
3-135720500-G-A	c.160G>A	p.D54N	Missense	2/14	-	2
3-135720506-T-C	c.166T>C	p.L56=	Synonymous	2/14	-	1
3-135720508-G-A	c.168G>A	p.L56=	Synonymous	2/14	-	1
3-135720516-C-T	c.176C>T	p.P59L	Missense	2/14	-	2
3-135720517-T-A	c.177T>A	p.P59=	Synonymous	2/14	-	1
3-135720517-T-C	c.177T>C	p.P59=	Synonymous	2/14	-	1
3-135720517-T-G	c.177T>G	p.P59=	Synonymous	2/14	-	1
3-135720521-T-C	c.181T>C	p.S61P	Missense	2/14	-	1
3-135720526-G-C	c.186G>C	p.Q62H	Missense	2/14	-	1
3-135720529-CA-C	c.192del	p.D65Mfs*4	Frameshift	2/14	-	1
3-135720536-GC-AA	c.196_197delinsAA	p.A66K	Missense	2/14	-	1
3-135720537-C-T	c.197C>T	p.A66V	Missense	2/14	-	1
3-135720538-A-C	c.198A>C	p.A66=	Synonymous	2/14	-	1
3-135720538-A-G	c.198A>G	p.A66=	Synonymous	2/14	-	1
3-135720538-A-T	c.198A>T	p.A66=	Synonymous	2/14	-	1
3-135720539-G-A	c.199G>A	p.D67N	Missense	2/14	-	3
3-135720540-A-G	c.200A>G	p.D67G	Missense	2/14	-	30
3-135720541-T-C	c.201T>C	p.D67=	Synonymous	2/14	-	3
3-135720545-A-C	c.205A>C	p.N69H	Missense	2/14	-	2
3-135720545-A-G	c.205A>G	p.N69D	Missense	2/14	-	1
3-135720548-TC-AA	c.208_209delinsAA	p.S70N	Missense	2/14	-	1
3-135720549-C-T	c.209C>T	p.S70F	Missense	2/14	-	1
3-135720551-A-G	c.211A>G	p.M71V	Missense	2/14	-	1
3-135720553-G-A	c.213G>A	p.M71I	Missense	2/14	-	2
3-135720553-G-T	c.213G>T	p.M71I	Missense	2/14	-	1
3-135720560-C-T	c.220C>T	p.P74S	Missense	2/14	-	3
3-135720561-C-T	c.221C>T	p.P74L	Missense	2/14	-	5
3-135720563-C-T	c.223C>T	p.H75Y	Missense	2/14	-	3
3-135720564-A-G	c.224A>G	p.H75R	Missense	2/14	-	1
3-135720564-A-T	c.224A>T	p.H75L	Missense	2/14	-	1
3-135720565-T-C	c.225T>C	p.H75=	Synonymous	2/14	-	1
3-135720568-A-T	c.228A>T	p.E76D	Missense	2/14	-	2
3-135720570-A-C	c.230A>C	p.N77T	Missense	2/14	-	1
3-135720572-G-A	c.232G>A	p.G78R	Missense	2/14	-	12
3-135720572-G-C	c.232G>C	p.G78R	Missense	2/14	-	5
3-135720575-C-A	c.235C>A	p.L79I	Missense	2/14	-	1
3-135720575-C-T	c.235C>T	p.L79F	Missense	2/14	-	2
3-135720578-T-C	c.238T>C	p.S80P	Missense	2/14	-	1
3-135720580-T-G	c.240T>G	p.S80=	Synonymous	2/14	-	1
3-135720582-C-T	c.242C>T	p.S81L	Missense	2/14	-	4
3-135720584-G-T	c.244G>T	p.A82S	Missense	2/14	-	1
3-135720585-C-G	c.245C>G	p.A82G	Missense	2/14	-	1
3-135720585-C-T	c.245C>T	p.A82V	Missense	2/14	-	1
3-135720592-A-C	c.252A>C	p.G84=	Synonymous	2/14	-	1
3-135720592-A-G	c.252A>G	p.G84=	Synonymous	2/14	-	1
3-135720592-A-T	c.252A>T	p.G84=	Synonymous	2/14	-	1
3-135720593-G-A	c.253G>A	p.D85N	Missense	2/14	-	1
3-135720594-A-G	c.254A>G	p.D85G	Missense	2/14	-	1
3-135720601-C-A	c.261C>A	p.P87=	Synonymous	2/14	-	1
3-135720601-C-G	c.261C>G	p.P87=	Synonymous	2/14	-	1
3-135720601-C-T	c.261C>T	p.P87=	Synonymous	2/14	-	1
3-135720602-C-A	c.262C>A	p.Q88K	Missense	2/14	-	1
3-135720602-C-G	c.262C>G	p.Q88E	Missense	2/14	-	1
3-135720603-A-G	c.263A>G	p.Q88R	Missense	2/14	-	1
3-135720617-G-T	c.277G>T	p.G93C	Missense	2/14	-	1
3-135720618-G-A	c.278G>A	p.G93D	Missense	2/14	-	1
3-135720620-A-C	c.280A>C	p.I94L	Missense	2/14	-	1
3-135720620-A-T	c.280A>T	p.I94L	Missense	2/14	-	1
3-135720623-C-A	c.283C>A	p.P95T	Missense	2/14	-	3
3-135720638-G-A	c.298G>A	p.G100R	Missense	2/14	-	1
3-135720643-T-C	c.303T>C	p.S101=	Synonymous	2/14	-	1
3-135720650-C-T	c.310C>T	p.Q104*	Nonsense	2/14	-	2
3-135720652-G-A	c.312G>A	p.Q104=	Synonymous	2/14	-	1
3-135720659-T-G	c.319T>G	p.Y107D	Missense	2/14	-	2
3-135720660-A-G	c.320A>G	p.Y107C	Missense	2/14	-	4
3-135720661-C-T	c.321C>T	p.Y107=	Synonymous	2/14	-	1
3-135720663-A-G	c.323A>G	p.N108S	Missense	2/14	-	5
3-135720673-T-C	c.333T>C	p.D111=	Synonymous	2/14	-	10
3-135720674-A-G	c.334A>G	p.I112V	Missense	2/14	-	1
3-135720677-G-A	c.337G>A	p.A113T	Missense	2/14	-	1
3-135720681-G-A	c.341G>A	p.G114E	Missense	2/14	-	3
3-135720689-A-G	c.349A>G	p.I117V	Missense	2/14	-	1
3-135720690-T-A	c.350T>A	p.I117N	Missense	2/14	-	1
3-135720691-C-T	c.351C>T	p.I117=	Synonymous	2/14	-	1
3-135720694-T-C	c.354T>C	p.S118=	Synonymous	2/14	-	1
3-135720701-A-G	c.361A>G	p.S121G	Missense	2/14	-	1
3-135720715-A-G	c.375A>G	p.K125=	Synonymous	2/14	-	1
3-135720716-G-C	c.376G>C	p.E126Q	Missense	2/14	-	1
3-135720716-G-T	c.376G>T	p.E126*	Nonsense	2/14	-	1
3-135720722-T-A	c.382T>A	p.S128T	Missense	2/14	-	1
3-135720723-C-T	c.383C>T	p.S128F	Missense	2/14	-	6
3-135720724-C-T	c.384C>T	p.S128=	Synonymous	2/14	-	1
3-135720725-T-C	c.385T>C	p.F129L	Missense	2/14	-	1
3-135720733-A-G	c.393A>G	p.K131=	Synonymous	2/14	-	1
3-135720728-GAAAAACTC-G	c.397_404del	p.K133*	Frameshift	2/14	-	2
3-135720738-A-G	c.398A>G	p.K133R	Missense	2/14	-	1
3-135720739-A-G	c.399A>G	p.K133=	Synonymous	2/14	-	1
3-135720741-A-G	c.401A>G	p.N134S	Missense	2/14	-	1
3-135720743-TC-AA	c.403_404delinsAA	p.S135N	Missense	2/14	-	2
3-135720750-A-T	c.410A>T	p.H137L	Missense	2/14	-	1
3-135720755-G-T	c.415G>T	p.A139S	Missense	2/14	-	1
3-135720760-C-A	c.420C>A	p.Y140*	Nonsense	2/14	-	1
3-135720760-C-G	c.420C>G	p.Y140*	Nonsense	2/14	-	1
3-135720761-AGA-CAT	c.421_423delinsCAT	p.R141H	Missense	2/14	-	1
3-135720763-A-C	c.423A>C	p.R141S	Missense	2/14	-	1
3-135720764-A-G	c.424A>G	p.K142E	Missense	2/14	-	1
3-135720762-G-GA	c.425dup	p.R144Kfs*4	Frameshift	2/14	-	1
3-135720768-G-A	c.428G>A	p.G143E	Missense	2/14	-	1
3-135720770-AG-CA	c.430_431delinsCA	p.R144Q	Missense	2/14	-	2
3-135720771-G-A	c.431G>A	p.R144K	Missense	2/14	-	3
3-135720775-A-G	c.435A>G	p.K145=	Synonymous	2/14	-	1
3-135720776-GTT-ATG	c.436_438delinsATG	p.V146M	Missense	2/14	-	1
3-135720780-A-C	c.440A>C	p.K147T	Missense	2/14	-	1
3-135720781-G-A	c.441G>A	p.K147=	Synonymous	2/14	-	1
3-135720781-G-C	c.441G>C	p.K147N	Missense	2/14	-	1
3-135720782-T-C	c.442T>C	p.S148P	Missense	2/14	-	3
3-135720786-A-G	c.446A>G	p.D149G	Missense	2/14	-	1
3-135720789-CA-AT	c.449_450delinsAT	p.S150Y	Missense	2/14	-	1
3-135720797-AG-GA	c.457_458delinsGA	p.R153E	Missense	2/14	-	1
3-135720797-AGG-CAT	c.457_459delinsCAT	p.R153H	Missense	2/14	-	1
3-135720801-G-T	c.461G>T	p.R154M	Missense	2/14	-	1
3-135720804-C-T	c.464C>T	p.S155L	Missense	2/14	-	3
3-135720807-T-G	c.467T>G	p.V156G	Missense	2/14	-	3
3-135720809-G-A	c.469G>A	p.D157N	Missense	2/14	-	1
3-135720810-A-C	c.470A>C	p.D157A	Missense	2/14	-	2
3-135720815-G-C	c.475G>C	p.D159H	Missense	2/14	-	1
3-135720820-G-A	c.480G>A	p.L160=	Synonymous	2/14	-	1
3-135720821-CT-AG	c.481_482inv	p.L161S	Missense	2/14	-	1
3-135720823-T-C	c.483T>C	p.L161=	Synonymous	2/14	-	1
3-135720830-C-T	c.490C>T	p.H164Y	Missense	2/14	-	2
3-135720832-T-A	c.492T>A	p.H164Q	Missense	2/14	-	1
3-135720842-G-A	c.502G>A	p.D168N	Missense	2/14	-	10
3-135720848-A-G	c.508A>G	p.N170D	Missense	2/14	-	2
3-135720851-G-A	c.511G>A	p.A171T	Missense	2/14	-	7
3-135720851-G-T	c.511G>T	p.A171S	Missense	2/14	-	35
3-135720852-C-A	c.512C>A	p.A171D	Missense	2/14	-	1
3-135720853-C-A	c.513C>A	p.A171=	Synonymous	2/14	-	1
3-135720853-C-G	c.513C>G	p.A171=	Synonymous	2/14	-	2
3-135720853-C-T	c.513C>T	p.A171=	Synonymous	2/14	-	1
3-135720857-T-G	c.517T>G	p.S173A	Missense	2/14	-	1
3-135720858-C-A	c.518C>A	p.S173Y	Missense	2/14	-	2
3-135720860-T-A	c.520T>A	p.F174I	Missense	2/14	-	2
3-135720864-G-A	c.524G>A	p.G175D	Missense	2/14	-	1
3-135720866-T-G	c.526T>G	p.L176V	Missense	2/14	-	1
3-135720869-C-T	c.529C>T	p.L177=	Synonymous	2/14	-	1
3-135720871-G-A	c.531G>A	p.L177=	Synonymous	2/14	-	1
3-135720871-G-C	c.531G>C	p.L177=	Synonymous	2/14	-	1
3-135720871-G-T	c.531G>T	p.L177=	Synonymous	2/14	-	1
3-135720872-C-T	c.532C>T	p.R178W	Missense	2/14	-	1
3-135720873-G-A	c.533G>A	p.R178Q	Missense	2/14	-	5
3-135720874-G-T	c.534G>T	p.R178=	Synonymous	2/14	-	1
3-135720878-TC-GG	c.538_539delinsGG	p.S180G	Missense	2/14	-	1
3-135720887-G-C	c.547G>C	p.E183Q	Missense	2/14	-	1
3-135720887-G-T	c.547G>T	p.E183*	Nonsense	2/14	-	1
3-135720889-G-T	c.549G>T	p.E183D	Missense	2/14	-	1
3-135720890-G-A	c.550G>A	p.E184K	Missense	2/14	-	1
3-135720891-A-G	c.551A>G	p.E184G	Missense	2/14	-	1
3-135720895-A-G	c.555A>G	p.K185=	Synonymous	2/14	-	1
3-135720896-C-T	c.556C>T	p.P186S	Missense	2/14	-	2
3-135720899-T-C	c.559T>C	p.L187=	Synonymous	2/14	-	1
3-135720901-G-A	c.561G>A	p.L187=	Synonymous	2/14	-	1
3-135720909-G-T	c.569G>T	p.R190I	Missense	2/14	-	1
3-135720913-C-G	c.573C>G	p.N191K	Missense	2/14	-	1
3-135720913-C-T	c.573C>T	p.N191=	Synonymous	2/14	-	1
3-135720917-C-G	c.577C>G	p.L193V	Missense	2/14	-	2
3-135720917-C-T	c.577C>T	p.L193=	Synonymous	2/14	-	2
3-135720918-T-C	c.578T>C	p.L193P	Missense	2/14	-	1
3-135720919-G-T	c.579G>T	p.L193=	Synonymous	2/14	-	1
3-135720924-C-T	c.584C>T	p.T195M	Missense	2/14	-	4
3-135720929-C-G	c.589C>G	p.L197V	Missense	2/14	-	1
3-135720930-T-C	c.590T>C	p.L197P	Missense	2/14	-	1
3-135720932-A-G	c.592A>G	p.T198A	Missense	2/14	-	1
3-135720936-CC-AA	c.596_597delinsAA	p.S199*	Nonsense	2/14	-	1
3-135720941-T-C	c.601T>C	p.F201L	Missense	2/14	-	1
3-135720944-C-T	c.604C>T	p.L202F	Missense	2/14	-	6
3-135720947-C-T	c.607C>T	p.Q203*	Nonsense	2/14	-	1
3-135720948-A-G	c.608A>G	p.Q203R	Missense	2/14	-	1
3-135720949-A-G	c.609A>G	p.Q203=	Synonymous	2/14	-	1
3-135720953-T-C	c.613T>C	p.F205L	Missense	2/14	-	1
3-135720955-T-G	c.615T>G	p.F205L	Missense	2/14	-	1
3-135720957-C-T	c.617C>T	p.S206F	Missense	2/14	-	1
3-135720963-AA-GG	c.623_624delinsGG	p.E208G	Missense	2/14	-	1
3-135720965-G-A	c.625G>A	p.D209N	Missense	2/14	-	1
3-135720971-G-A	c.631G>A	p.V211I	Missense	2/14	-	1
3-135720971-G-C	c.631G>C	p.V211L	Missense	2/14	-	1
3-135720971-GTT-ATG	c.631_633delinsATG	p.V211M	Missense	2/14	-	1
3-135720975-C-T	c.635C>T	p.T212I	Missense	2/14	-	1
3-135720977-C-T	c.637C>T	p.Q213*	Nonsense	2/14	-	3
3-135720980-A-G	c.640A>G	p.I214V	Missense	2/14	-	1
3-135720981-T-G	c.641T>G	p.I214S	Missense	2/14	-	1
3-135720985-G-A	c.645G>A	p.L215=	Synonymous	2/14	-	1
3-135720986-G-A	c.646G>A	p.E216K	Missense	2/14	-	2
3-135720991-A-G	c.651A>G	p.K217=	Synonymous	2/14	-	1
3-135720997-A-G	c.657A>G	p.K219=	Synonymous	2/14	-	1
3-135721003-T-A	c.663T>A	p.D221E	Missense	2/14	-	2
3-135721003-T-C	c.663T>C	p.D221=	Synonymous	2/14	-	1
3-135721003-T-G	c.663T>G	p.D221E	Missense	2/14	-	1
3-135721004-A-C	c.664A>C	p.N222H	Missense	2/14	-	1
3-135721004-A-G	c.664A>G	p.N222D	Missense	2/14	-	1
3-135721007-T-C	c.667T>C	p.F223L	Missense	2/14	-	1
3-135721009-T-A	c.669T>A	p.F223L	Missense	2/14	-	1
3-135721009-T-G	c.669T>G	p.F223L	Missense	2/14	-	1
3-135721011-C-T	c.671C>T	p.S224F	Missense	2/14	-	1
3-135721013-T-A	c.673T>A	p.S225T	Missense	2/14	-	3
3-135721013-TC-CT	c.673_674delinsCT	p.S225L	Missense	2/14	-	1
3-135721018-G-T	c.678G>T	p.G226=	Synonymous	2/14	-	1
3-135721020-CA-TG	c.680_681inv	p.T227M	Missense	2/14	-	1
3-135721022-G-A	c.682G>A	p.D228N	Missense	2/14	-	1
3-135721023-A-G	c.683A>G	p.D228G	Missense	2/14	-	2
3-135721024-C-A	c.684C>A	p.D228E	Missense	2/14	-	1
3-135721024-C-G	c.684C>G	p.D228E	Missense	2/14	-	1
3-135721030-G-A	c.690G>A	p.K230=	Synonymous	2/14	-	2
3-135721031-A-C	c.691A>C	p.M231L	Missense	2/14	-	1
3-135721031-A-T	c.691A>T	p.M231L	Missense	2/14	-	1
3-135721035-G-A	c.695G>A	p.C232Y	Missense	2/14	-	2
3-135721036-C-A	c.696C>A	p.C232*	Nonsense	2/14	-	1
3-135721036-C-T	c.696C>T	p.C232=	Synonymous	2/14	-	4
3-135721040-G-A	c.700G>A	p.D234N	Missense	2/14	-	2
3-135721040-G-T	c.700G>T	p.D234Y	Missense	2/14	-	1
3-135721048-A-C	c.708A>C	p.L236F	Missense	2/14	-	2
3-135721048-A-T	c.708A>T	p.L236F	Missense	2/14	-	4
3-135721049-T-C	c.709T>C	p.L237=	Synonymous	2/14	-	2
3-135721051-G-A	c.711G>A	p.L237=	Synonymous	2/14	-	1
3-135721053-A-G	c.713A>G	p.K238R	Missense	2/14	-	1
3-135721056-G-A	c.716G>A	p.C239Y	Missense	2/14	-	1
3-135721057-C-G	c.717C>G	p.C239W	Missense	2/14	-	3
3-135721059-C-T	c.719C>T	p.S240F	Missense	2/14	-	1
3-135721060-C-A	c.720C>A	p.S240=	Synonymous	2/14	-	4
3-135721060-C-G	c.720C>G	p.S240=	Synonymous	2/14	-	3
3-135721060-C-T	c.720C>T	p.S240=	Synonymous	2/14	-	3
3-135721061-G-A	c.721G>A	p.E241K	Missense	2/14	-	6
3-135721063-G-T	c.723G>T	p.E241D	Missense	2/14	-	1
3-135721067-T-G	c.727T>G	p.L243V	Missense	2/14	-	1
3-135721070-A-G	c.730A>G	p.K244E	Missense	2/14	-	1
3-135721071-A-G	c.731A>G	p.K244R	Missense	2/14	-	3
3-135721068-TA-T	c.735del	p.K245Nfs*6	Frameshift	2/14	-	2
3-135721076-T-G	c.736T>G	p.C246G	Missense	2/14	-	1
3-135721077-G-T	c.737G>T	p.C246F	Missense	2/14	-	1
3-135721078-C-T	c.738C>T	p.C246=	Synonymous	2/14	-	1
3-135721081-A-C	c.741A>C	p.T247=	Synonymous	2/14	-	1
3-135721081-A-G	c.741A>G	p.T247=	Synonymous	2/14	-	1
3-135721081-A-T	c.741A>T	p.T247=	Synonymous	2/14	-	1
3-135721085-A-G	c.745A>G	p.I249V	Missense	2/14	-	9
3-135721086-T-C	c.746T>C	p.I249T	Missense	2/14	-	1
3-135721087-C-A	c.747C>A	p.I249=	Synonymous	2/14	-	1
3-135721087-C-T	c.747C>T	p.I249=	Synonymous	2/14	-	1
3-135721091-AAA-GAC	c.751_753delinsGAC	p.K251D	Missense	2/14	-	1
3-135721094-C-G	c.754C>G	p.Q252E	Missense	2/14	-	1
3-135721095-A-G	c.755A>G	p.Q252R	Missense	2/14	-	1
3-135721097-T-C	c.757T>C	p.C253R	Missense	2/14	-	1
3-135721098-G-T	c.758G>T	p.C253F	Missense	2/14	-	1
3-135721100-A-C	c.760A>C	p.I254L	Missense	2/14	-	3
3-135721100-A-T	c.760A>T	p.I254L	Missense	2/14	-	3
3-135721101-T-C	c.761T>C	p.I254T	Missense	2/14	-	1
3-135721110-A-G	c.770A>G	p.K257R	Missense	2/14	-	1
3-135721120-T-G	c.780T>G	p.S260R	Missense	2/14	-	1
3-135721129-T-C	c.789T>C	p.S263=	Synonymous	2/14	-	2
3-135721134-G-A	c.794G>A	p.G265E	Missense	2/14	-	1
3-135721140-G-C	c.800G>C	p.G267A	Missense	2/14	-	1
3-135721144-T-C	c.804T>C	p.N268=	Synonymous	2/14	-	3
3-135721147-T-C	c.807T>C	p.D269=	Synonymous	2/14	-	2
3-135721147-T-TA	c.808dup	p.T270Nfs*4	Frameshift	2/14	-	1
3-135721155-C-G	c.815C>G	p.S272C	Missense	2/14	-	1
3-135721157-A-G	c.817A>G	p.S273G	Missense	2/14	-	1
3-135721160-T-C	c.820T>C	p.S274P	Missense	2/14	-	1
3-135721161-C-T	c.821C>T	p.S274F	Missense	2/14	-	2
3-135721163-GA-G	c.826del	p.T276Lfs*4	Frameshift	2/14	-	1
3-135721171-C-A	c.831C>A	p.V277=	Synonymous	2/14	-	2
3-135721171-C-G	c.831C>G	p.V277=	Synonymous	2/14	-	3
3-135721171-C-T	c.831C>T	p.V277=	Synonymous	2/14	-	2
3-135721175-A-G	c.835A>G	p.M279V	Missense	2/14	-	1
3-135721177-G-A	c.837G>A	p.M279I	Missense	2/14	-	5
3-135721179-A-G	c.839A>G	p.N280S	Missense	2/14	-	1
3-135721181-G-A	c.841G>A	p.V281I	Missense	2/14	-	1
3-135721183-A-C	c.843A>C	p.V281=	Synonymous	2/14	-	1
3-135721183-A-G	c.843A>G	p.V281=	Synonymous	2/14	-	1
3-135721183-A-T	c.843A>T	p.V281=	Synonymous	2/14	-	1
3-135721188-C-T	c.848C>T	p.T283I	Missense	2/14	-	1
3-135721190-AG-CA	c.850_851delinsCA	p.R284Q	Missense	2/14	-	1
3-135721190-AGG-TGT	c.850_852delinsTGT	p.R284C	Missense	2/14	-	1
3-135721194-T-C	c.854T>C	p.L285S	Missense	2/14	-	1
3-135721198-A-C	c.858A>C	p.A286=	Synonymous	2/14	-	1
3-135721198-A-G	c.858A>G	p.A286=	Synonymous	2/14	-	1
3-135721198-A-T	c.858A>T	p.A286=	Synonymous	2/14	-	1
3-135721200-C-A	c.860C>A	p.S287Y	Missense	2/14	-	1
3-135721207-G-A	c.867G>A	p.L289=	Synonymous	2/14	-	2
3-135721208-A-G	c.868A>G	p.K290E	Missense	2/14	-	1
3-135721212-A-C	c.872A>C	p.K291T	Missense	2/14	-	1
3-135721217-C-A	c.877C>A	p.P293T	Missense	2/14	-	1
3-135721217-C-T	c.877C>T	p.P293S	Missense	2/14	-	1
3-135721218-C-T	c.878C>T	p.P293L	Missense	2/14	-	2
3-135721224-A-T	c.884A>T	p.E295V	Missense	2/14	-	2
3-135721235-TC-CT	c.895_896delinsCT	p.S299L	Missense	2/14	-	1
3-135721238-G-T	c.898G>T	p.G300W	Missense	2/14	-	1
3-135721239-G-A	c.899G>A	p.G300E	Missense	2/14	-	1
3-135721247-G-A	c.907G>A	p.E303K	Missense	2/14	-	1
3-135721248-A-G	c.908A>G	p.E303G	Missense	2/14	-	1
3-135721255-A-C	c.915A>C	p.L305=	Synonymous	2/14	-	2
3-135721261-A-T	c.921A>T	p.L307F	Missense	2/14	-	1
3-135721268-C-CT	c.929dup	p.I311Dfs*3	Frameshift	2/14	-	1
3-135721276-T-C	c.936T>C	p.S312=	Synonymous	2/14	-	1
3-135721279-T-C	c.939T>C	p.N313=	Synonymous	2/14	-	2
3-135721282-G-A	c.942G>A	p.M314I	Missense	2/14	-	1
3-135721282-G-C	c.942G>C	p.M314I	Missense	2/14	-	1
3-135721282-G-T	c.942G>T	p.M314I	Missense	2/14	-	1
3-135721286-TA-T	c.946del	p.S316Afs*4	Frameshift	2/14	-	1
3-135721287-G-A	c.947G>A	p.S316N	Missense	2/14	-	1
3-135721288-C-T	c.948C>T	p.S316=	Synonymous	2/14	-	4
3-135721289-T-G	c.949T>G	p.L317V	Missense	2/14	-	1
3-135721293-A-C	c.953A>C	p.Q318P	Missense	2/14	-	1
3-135721294-A-G	c.954A>G	p.Q318=	Synonymous	2/14	-	1
3-135721297-G-A	c.957G>A	p.L319=	Synonymous	2/14	-	1
3-135721298-A-G	c.958A>G	p.T320A	Missense	2/14	-	1
3-135721302-C-T	c.962C>T	p.P321L	Missense	2/14	-	3
3-135721303-C-A	c.963C>A	p.P321=	Synonymous	2/14	-	1
3-135721305-T-C	c.965T>C	p.F322S	Missense	2/14	-	2
3-135721309-C-A	c.969C>A	p.S323=	Synonymous	2/14	-	1
3-135721309-C-G	c.969C>G	p.S323=	Synonymous	2/14	-	1
3-135721309-C-T	c.969C>T	p.S323=	Synonymous	2/14	-	1
3-135721318-T-C	c.978T>C	p.F326=	Synonymous	2/14	-	3
3-135721321-C-A	c.981C>A	p.G327=	Synonymous	2/14	-	2
3-135721321-C-G	c.981C>G	p.G327=	Synonymous	2/14	-	2
3-135721321-C-T	c.981C>T	p.G327=	Synonymous	2/14	-	2
3-135721323-C-T	c.983C>T	p.T328I	Missense	2/14	-	1
3-135721328-C-G	c.988C>G	p.Q330E	Missense	2/14	-	1
3-135721330-A-C	c.990A>C	p.Q330H	Missense	2/14	-	1
3-135721330-A-T	c.990A>T	p.Q330H	Missense	2/14	-	1
3-135721333-C-A	c.993C>A	p.P331=	Synonymous	2/14	-	1
3-135721333-C-G	c.993C>G	p.P331=	Synonymous	2/14	-	1
3-135721333-C-T	c.993C>T	p.P331=	Synonymous	2/14	-	1
3-135721335-CT-AA	c.995_996delinsAA	p.P332Q	Missense	2/14	-	1
3-135721336-T-A	c.996T>A	p.P332=	Synonymous	2/14	-	1
3-135721336-T-C	c.996T>C	p.P332=	Synonymous	2/14	-	1
3-135721336-T-G	c.996T>G	p.P332=	Synonymous	2/14	-	1
3-135721336-TA-T	c.999del	p.K333Nfs*48	Frameshift	2/14	-	1
3-135721341-A-G	c.1001A>G	p.Y334C	Missense	2/14	-	2
3-135721342-T-C	c.1002T>C	p.Y334=	Synonymous	2/14	-	2
3-135721343-G-A	c.1003G>A	p.E335K	Missense	2/14	-	2
3-135721343-GA-AG	c.1003_1004delinsAG	p.E335R	Missense	2/14	-	1
3-135721349-G-C	c.1009G>C	p.V337L	Missense	2/14	-	1
3-135721350-T-A	c.1010T>A	p.V337D	Missense	2/14	-	2
3-135721350-T-C	c.1010T>C	p.V337A	Missense	2/14	-	1
3-135721347-ATGT-A	c.1011_1013del	p.V338del	InFrameDeletion	2/14	-	1
3-135721357-G-A	c.1017G>A	p.Q339=	Synonymous	2/14	-	1
3-135721357-G-T	c.1017G>T	p.Q339H	Missense	2/14	-	1
3-135721359-T-C	c.1019T>C	p.L340P	Missense	2/14	-	1
3-135721360-C-A	c.1020C>A	p.L340=	Synonymous	2/14	-	1
3-135721360-C-G	c.1020C>G	p.L340=	Synonymous	2/14	-	1
3-135721360-C-T	c.1020C>T	p.L340=	Synonymous	2/14	-	1
3-135721361-T-A	c.1021T>A	p.S341T	Missense	2/14	-	1
3-135721362-C-A	c.1022C>A	p.S341*	Nonsense	2/14	-	5
3-135721362-C-G	c.1022C>G	p.S341*	Nonsense	2/14	-	5
3-135721362-C-T	c.1022C>T	p.S341L	Missense	2/14	-	1
3-135721364-G-T	c.1024G>T	p.A342S	Missense	2/14	-	1
3-135721365-C-T	c.1025C>T	p.A342V	Missense	2/14	-	1
3-135721366-T-A	c.1026T>A	p.A342=	Synonymous	2/14	-	1
3-135721366-T-C	c.1026T>C	p.A342=	Synonymous	2/14	-	1
3-135721366-T-G	c.1026T>G	p.A342=	Synonymous	2/14	-	1
3-135721368-TCTG-T	c.1028_1030del	p.S343_D344delinsY	MultiAAMissense	2/14	-	1
3-135721379-CGA-TGG	c.1039_1041delinsTGG	p.R347W	Missense	2/14	-	1
3-135721379-C-T	c.1039C>T	p.R347*	Nonsense	2/14	-	5
3-135721380-G-A	c.1040G>A	p.R347Q	Missense	2/14	-	1
3-135721380-GA-AT	c.1040_1041delinsAT	p.R347H	Missense	2/14	-	1
3-135721383-T-C	c.1043T>C	p.F348S	Missense	2/14	-	1
3-135721385-C-G	c.1045C>G	p.Q349E	Missense	2/14	-	3
3-135721388-A-G	c.1048A>G	p.T350A	Missense	2/14	-	1
3-135721397-T-C	c.1057T>C	p.L353=	Synonymous	2/14	-	2
3-135721399-G-A	c.1059G>A	p.L353=	Synonymous	2/14	-	3
3-135721405-T-C	c.1065T>C	p.N355=	Synonymous	2/14	-	1
3-135721406-G-A	c.1066G>A	p.D356N	Missense	2/14	-	2
3-135721407-A-G	c.1067A>G	p.D356G	Missense	2/14	-	1
3-135721408-C-A	c.1068C>A	p.D356E	Missense	2/14	-	2
3-135721411-G-A	c.1071G>A	p.K357=	Synonymous	2/14	-	1
3-135721412-C-T	c.1072C>T	p.P358S	Missense	2/14	-	1
3-135721419-C-A	c.1079C>A	p.S360Y	Missense	2/14	-	1
3-135721419-C-T	c.1079C>T	p.S360F	Missense	2/14	-	3
3-135721421-AG-GA	c.1081_1082delinsGA	p.R361E	Missense	2/14	-	1
3-135721422-G-C	c.1082G>C	p.R361T	Missense	2/14	-	1
3-135721425-A-G	c.1085A>G	p.K362R	Missense	2/14	-	2
3-135721430-G-T	c.1090G>T	p.D364Y	Missense	2/14	-	1
3-135721431-A-G	c.1091A>G	p.D364G	Missense	2/14	-	1
3-135721433-A-G	c.1093A>G	p.T365A	Missense	2/14	-	1
3-135721439-C-A	c.1099C>A	p.Q367K	Missense	2/14	-	1
3-135721446-T-C	c.1106T>C	p.I369T	Missense	2/14	-	1
3-135721452-A-G	c.1112A>G	p.N371S	Missense	2/14	-	1
3-135721454-A-G	c.1114A>G	p.N372D	Missense	2/14	-	1
3-135721462-A-C	c.1122A>C	p.T374=	Synonymous	2/14	-	1
3-135721462-A-G	c.1122A>G	p.T374=	Synonymous	2/14	-	1
3-135721462-A-T	c.1122A>T	p.T374=	Synonymous	2/14	-	1
3-135721463-A-G	c.1123A>G	p.N375D	Missense	2/14	-	1
3-135721464-A-T	c.1124A>T	p.N375I	Missense	2/14	-	3
3-135721465-T-C	c.1125T>C	p.N375=	Synonymous	2/14	-	1
3-135721466-TC-CT	c.1126_1127delinsCT	p.S376L	Missense	2/14	-	1
3-135721467-C-T	c.1127C>T	p.S376F	Missense	2/14	-	8
3-135721469-T-G	c.1129T>G	p.L377V	Missense	2/14	-	1
3-135721472-T-A	c.1132T>A	p.Y378N	Missense	2/14	-	1
3-135721473-A-G	c.1133A>G	p.Y378C	Missense	2/14	-	1
3-135721486-A-C	c.1146A>C	p.V382=	Synonymous	2/14	-	1
3-135721486-A-G	c.1146A>G	p.V382=	Synonymous	2/14	-	1
3-135721486-A-T	c.1146A>T	p.V382=	Synonymous	2/14	-	1
3-135721493-C-T	c.1153C>T	p.P385S	Missense	2/14	-	3
3-135721504-A-G	c.1164A>G	p.L388=	Synonymous	2/14	-	2
3-135721515-A-G	c.1175A>G	p.Q392R	Missense	2/14	-	1
3-135721516-G-C	c.1176G>C	p.Q392H	Missense	2/14	-	1
3-135721516-G-T	c.1176G>T	p.Q392H	Missense	2/14	-	2
3-135721518-T-C	c.1178T>C	p.V393A	Missense	2/14	-	1
3-135721520-C-T	c.1180C>T	p.Q394*	Nonsense	2/14	-	1
3-135721522-A-C	c.1182A>C	p.Q394H	Missense	2/14	-	1
3-135721522-A-T	c.1182A>T	p.Q394H	Missense	2/14	-	1
3-135721524-C-T	c.1184C>T	p.S395L	Missense	2/14	-	1
3-135721536-C-A	c.1196C>A	p.T399N	Missense	2/14	-	1
3-135721538-A-C	c.1198A>C	p.M400L	Missense	2/14	-	1
3-135721538-A-T	c.1198A>T	p.M400L	Missense	2/14	-	1
3-135721541-A-G	c.1201A>G	p.N401D	Missense	2/14	-	1
3-135721544-C-T	c.1204C>T	p.P402S	Missense	2/14	-	2
3-135721553-A-C	c.1213A>C	p.N405H	Missense	2/14	-	1
3-135721560-C-A	c.1220C>A	p.S407Y	Missense	2/14	-	4
3-135721560-C-T	c.1220C>T	p.S407F	Missense	2/14	-	1
3-135721565-G-T	c.1225G>T	p.D409Y	Missense	2/14	-	1
3-135721567-C-T	c.1227C>T	p.D409=	Synonymous	2/14	-	2
3-135721583-CTT-C	c.1245_1246del	p.I417*	Frameshift	2/14	-	1
3-135721585-T-A	c.1245T>A	p.L415=	Synonymous	2/14	-	1
3-135721585-T-C	c.1245T>C	p.L415=	Synonymous	2/14	-	1
3-135721585-T-G	c.1245T>G	p.L415=	Synonymous	2/14	-	1
3-135721589-A-C	c.1249A>C	p.I417L	Missense	2/14	-	1
3-135721590-T-C	c.1250T>C	p.I417T	Missense	2/14	-	2
3-135721595-G-C	c.1255G>C	p.E419Q	Missense	2/14	-	1
3-135721596-A-G	c.1256A>G	p.E419G	Missense	2/14	-	1
3-135721607-G-T	c.1267G>T	p.G423*	Nonsense	2/14	-	5
3-135721614-A-C	c.1274A>C	p.K425T	Missense	2/14	-	1
3-135721622-G-C	c.1282G>C	p.D428H	Missense	2/14	-	1
3-135721624-T-C	c.1284T>C	p.D428=	Synonymous	2/14	-	1
3-135721625-A-G	c.1285A>G	p.K429E	Missense	2/14	-	1
3-135721631-C-A	c.1291C>A	p.Q431K	Missense	2/14	-	1
3-135721638-C-A	c.1298C>A	p.T433K	Missense	2/14	-	1
3-135721647-G-A	c.1307G>A	p.G436E	Missense	2/14	-	3
3-135721650-C-T	c.1310C>T	p.P437L	Missense	2/14	-	1
3-135721654-T-G	c.1314T>G	p.S438R	Missense	2/14	-	1
3-135721655-C-G	c.1315C>G	p.H439D	Missense	2/14	-	3
3-135721655-C-T	c.1315C>T	p.H439Y	Missense	2/14	-	4
3-135721661-T-C	c.1321T>C	p.L441=	Synonymous	2/14	-	1
3-135721661-TT-CC	c.1321_1322delinsCC	p.L441P	Missense	2/14	-	1
3-135721663-A-G	c.1323A>G	p.L441=	Synonymous	2/14	-	1
3-135721670-GTA-ATG	c.1330_1332delinsATG	p.V444M	Missense	2/14	-	1
3-135721672-A-C	c.1332A>C	p.V444=	Synonymous	2/14	-	1
3-135721672-A-G	c.1332A>G	p.V444=	Synonymous	2/14	-	2
3-135721672-A-T	c.1332A>T	p.V444=	Synonymous	2/14	-	1
3-135721674-A-C	c.1334A>C	p.N445T	Missense	2/14	-	1
3-135721682-AGA-TGG	c.1342_1344delinsTGG	p.R448W	Missense	2/14	-	1
3-135721683-G-A	c.1343G>A	p.R448K	Missense	2/14	-	1
3-135721683-G-T	c.1343G>T	p.R448I	Missense	2/14	-	1
3-135721685-G-A	c.1345G>A	p.A449T	Missense	2/14	-	1
3-135721688-G-A	c.1348G>A	p.E450K	Missense	2/14	-	1
3-135721688-G-T	c.1348G>T	p.E450*	Nonsense	2/14	-	1
3-135721690-A-C	c.1350A>C	p.E450D	Missense	2/14	-	1
3-135721690-A-T	c.1350A>T	p.E450D	Missense	2/14	-	1
3-135721694-C-T	c.1354C>T	p.P452S	Missense	2/14	-	5
3-135721700-C-T	c.1360C>T	p.H454Y	Missense	2/14	-	1
3-135721717-A-AT	c.1377_1378insT	p.K460*	Nonsense	2/14	-	1
3-135721723-C-T	c.1383C>T	p.C461=	Synonymous	2/14	-	2
3-135721727-A-G	c.1387A>G	p.T463A	Missense	2/14	-	1
3-135721727-A-T	c.1387A>T	p.T463S	Missense	2/14	-	1
3-135721728-C-G	c.1388C>G	p.T463S	Missense	2/14	-	1
3-135721735-G-A	c.1395G>A	p.M465I	Missense	2/14	-	1
3-135721736-C-T	c.1396C>T	p.Q466*	Nonsense	2/14	-	1
3-135721742-G-A	c.1402G>A	p.E468K	Missense	2/14	-	1
3-135721753-G-C	c.1413G>C	p.K471N	Missense	2/14	-	1
3-135721753-G-T	c.1413G>T	p.K471N	Missense	2/14	-	2
3-135721757-T-G	c.1417T>G	p.F473V	Missense	2/14	-	1
3-135721762-G-A	c.1422G>A	p.E474=	Synonymous	2/14	-	2
3-135721764-A-T	c.1424A>T	p.K475I	Missense	2/14	-	1
3-135721765-A-G	c.1425A>G	p.K475=	Synonymous	2/14	-	1
3-135721766-T-G	c.1426T>G	p.S476A	Missense	2/14	-	1
3-135721767-C-A	c.1427C>A	p.S476*	Nonsense	2/14	-	1
3-135721767-C-G	c.1427C>G	p.S476*	Nonsense	2/14	-	1
3-135721770-T-G	c.1430T>G	p.F477C	Missense	2/14	-	2
3-135721778-C-A	c.1438C>A	p.L480I	Missense	2/14	-	1
3-135721778-C-G	c.1438C>G	p.L480V	Missense	2/14	-	2
3-135721781-C-G	c.1441C>G	p.P481A	Missense	2/14	-	19
3-135721781-C-T	c.1441C>T	p.P481S	Missense	2/14	-	2
3-135721783-T-A	c.1443T>A	p.P481=	Synonymous	2/14	-	2
3-135721783-T-C	c.1443T>C	p.P481=	Synonymous	2/14	-	2
3-135721783-T-G	c.1443T>G	p.P481=	Synonymous	2/14	-	2
3-135721787-G-T	c.1447G>T	p.E483*	Nonsense	2/14	-	1
3-135721791-A-C	c.1451A>C	p.D484A	Missense	2/14	-	1
3-135721793-TG-GC	c.1453_1454delinsGC	p.C485A	Missense	2/14	-	1
3-135721796-A-G	c.1456A>G	p.K486E	Missense	2/14	-	1
3-135721813-AATT-A	c.1473_1475del	p.K491_F492delinsN	MultiAAMissense	2/14	-	1
3-135721824-G-A	c.1484G>A	p.G495E	Missense	2/14	-	1
3-135721828-C-T	c.1488C>T	p.D496=	Synonymous	2/14	-	1
3-135721829-C-T	c.1489C>T	p.Q497*	Nonsense	2/14	-	5
3-135721832-A-C	c.1492A>C	p.R498=	Synonymous	2/14	-	1
3-135721833-G-A	c.1493G>A	p.R498K	Missense	2/14	-	1
3-135721833-G-T	c.1493G>T	p.R498I	Missense	2/14	-	1
3-135721850-A-C	c.1510A>C	p.S504R	Missense	2/14	-	3
3-135721852-T-A	c.1512T>A	p.S504R	Missense	2/14	-	2
3-135721852-T-G	c.1512T>G	p.S504R	Missense	2/14	-	2
3-135721853-A-T	c.1513A>T	p.S505C	Missense	2/14	-	1
3-135721854-G-A	c.1514G>A	p.S505N	Missense	2/14	-	1
3-135721857-A-G	c.1517A>G	p.Q506R	Missense	2/14	-	1
3-135721862-G-A	c.1522G>A	p.E508K	Missense	2/14	-	3
3-135721865-A-G	c.1525A>G	p.I509V	Missense	2/14	-	1
3-135721868-G-A	c.1528G>A	p.D510N	Missense	2/14	-	1
3-135721868-G-C	c.1528G>C	p.D510H	Missense	2/14	-	1
3-135721872-A-T	c.1532A>T	p.K511I	Missense	2/14	-	1
3-135721890-A-G	c.1550A>G	p.E517G	Missense	2/14	-	1
3-135721893-C-A	c.1553C>A	p.S518Y	Missense	2/14	-	1
3-135721893-C-T	c.1553C>T	p.S518F	Missense	2/14	-	6
3-135721899-C-A	c.1559C>A	p.S520*	Nonsense	2/14	-	1
3-135721899-C-G	c.1559C>G	p.S520*	Nonsense	2/14	-	1
3-135721903-G-C	c.1563G>C	p.Q521H	Missense	2/14	-	1
3-135721903-G-T	c.1563G>T	p.Q521H	Missense	2/14	-	1
3-135721906-G-C	c.1566G>C	p.K522N	Missense	2/14	-	1
3-135721906-G-T	c.1566G>T	p.K522N	Missense	2/14	-	1
3-135721907-A-G	c.1567A>G	p.M523V	Missense	2/14	-	1
3-135721920-T-G	c.1580T>G	p.L527R	Missense	2/14	-	1
3-135721922-A-G	c.1582A>G	p.R528G	Missense	2/14	-	1
3-135721922-AG-CA	c.1582_1583delinsCA	p.R528Q	Missense	2/14	-	1
3-135721927-G-A	c.1587G>A	p.E529=	Synonymous	2/14	-	1
3-135721927-G-C	c.1587G>C	p.E529D	Missense	2/14	-	1
3-135721928-C-A	c.1588C>A	p.P530T	Missense	2/14	-	1
3-135721928-C-T	c.1588C>T	p.P530S	Missense	2/14	-	2
3-135721935-C-T	c.1595C>T	p.A532V	Missense	2/14	-	1
3-135721936-G-A	c.1596G>A	p.A532=	Synonymous	2/14	-	4
3-135721936-G-C	c.1596G>C	p.A532=	Synonymous	2/14	-	2
3-135721936-G-T	c.1596G>T	p.A532=	Synonymous	2/14	-	2
3-135721941-G-T	c.1601G>T	p.G534V	Missense	2/14	-	1
3-135721952-A-C	c.1612A>C	p.N538H	Missense	2/14	-	2
3-135721969-C-T	c.1629C>T	p.H543=	Synonymous	2/14	-	1
3-135721977-T-C	c.1637T>C	p.L546S	Missense	2/14	-	1
3-135721980-C-T	c.1640C>T	p.T547I	Missense	2/14	-	1
3-135721981-C-T	c.1641C>T	p.T547=	Synonymous	2/14	-	1
3-135721982-G-A	c.1642G>A	p.G548S	Missense	2/14	-	7
3-135721990-C-A	c.1650C>A	p.T550=	Synonymous	2/14	-	1
3-135721990-C-G	c.1650C>G	p.T550=	Synonymous	2/14	-	3
3-135721990-C-T	c.1650C>T	p.T550=	Synonymous	2/14	-	1
3-135722016-A-G	c.1676A>G	p.K559R	Missense	2/14	-	2
3-135722019-T-G	c.1679T>G	p.V560G	Missense	2/14	-	1
3-135722022-C-G	c.1682C>G	p.S561C	Missense	2/14	-	1
3-135722026-A-C	c.1686A>C	p.S562=	Synonymous	2/14	-	1
3-135722026-A-G	c.1686A>G	p.S562=	Synonymous	2/14	-	1
3-135722026-A-T	c.1686A>T	p.S562=	Synonymous	2/14	-	1
3-135722027-C-A	c.1687C>A	p.P563T	Missense	2/14	-	5
3-135722030-A-G	c.1690A>G	p.I564V	Missense	2/14	-	3
3-135722031-T-C	c.1691T>C	p.I564T	Missense	2/14	-	1
3-135722036-A-ACATTTGACCTTC	c.1696_1697insCATTTGACCTTC	p.K566delinsTFDLQ	MultiAAMissense	2/14	-	1
3-135722036-A-G	c.1696A>G	p.K566E	Missense	2/14	-	1
3-135722039-G-A	c.1699G>A	p.V567I	Missense	2/14	-	2
3-135722041-C-A	c.1701C>A	p.V567=	Synonymous	2/14	-	2
3-135722041-C-G	c.1701C>G	p.V567=	Synonymous	2/14	-	2
3-135722041-C-T	c.1701C>T	p.V567=	Synonymous	2/14	-	3
3-135722043-C-T	c.1703C>T	p.S568L	Missense	2/14	-	9
3-135722044-A-C	c.1704A>C	p.S568=	Synonymous	2/14	-	1
3-135722046-C-T	c.1706C>T	p.P569L	Missense	2/14	-	3
3-135722050-C-T	c.1710C>T	p.S570=	Synonymous	2/14	-	1
3-135722052-G-T	c.1712G>T	p.C571F	Missense	2/14	-	1
3-135722058-C-A	c.1718C>A	p.T573K	Missense	2/14	-	2
3-135722061-G-A	c.1721G>A	p.R574K	Missense	2/14	-	1
3-135722073-C-A	c.1733C>A	p.T578N	Missense	2/14	-	1
3-135722077-T-A	c.1737T>A	p.N579K	Missense	2/14	-	1
3-135722078-G-T	c.1738G>T	p.G580*	Nonsense	2/14	-	1
3-135722096-G-A	c.1756G>A	p.E586K	Missense	2/14	-	1
3-135722097-A-T	c.1757A>T	p.E586V	Missense	2/14	-	1
3-135722099-G-C	c.1759G>C	p.D587H	Missense	2/14	-	1
3-135722102-C-T	c.1762C>T	p.R588*	Nonsense	2/14	-	2
3-135722103-GA-AT	c.1763_1764delinsAT	p.R588H	Missense	2/14	-	1
3-135722107-C-CA	c.1767_1768insA	p.L590Tfs*10	Frameshift	2/14	-	1
3-135722114-C-T	c.1774C>T	p.L592=	Synonymous	2/14	-	1
3-135722116-G-A	c.1776G>A	p.L592=	Synonymous	2/14	-	1
3-135722116-G-C	c.1776G>C	p.L592=	Synonymous	2/14	-	1
3-135722116-G-T	c.1776G>T	p.L592=	Synonymous	2/14	-	1
3-135722117-C-T	c.1777C>T	p.R593*	Nonsense	2/14	-	2
3-135722118-G-A	c.1778G>A	p.R593Q	Missense	2/14	-	4
3-135722119-A-G	c.1779A>G	p.R593=	Synonymous	2/14	-	1
3-135722125-G-A	c.1785G>A	p.L595=	Synonymous	2/14	-	1
3-135722126-G-T	c.1786G>T	p.E596*	Nonsense	2/14	-	3
3-135722140-C-T	c.1800C>T	p.D600=	Synonymous	2/14	-	1
3-135722147-C-G	c.1807C>G	p.Q603E	Missense	2/14	-	1
3-135722159-G-T	c.1819G>T	p.E607*	Nonsense	2/14	-	1
3-135722168-T-C	c.1828T>C	p.S610P	Missense	2/14	-	1
3-135722171-A-G	c.1831A>G	p.S611G	Missense	2/14	-	2
3-135722172-G-A	c.1832G>A	p.S611N	Missense	2/14	-	1
3-135722177-G-A	c.1837G>A	p.G613R	Missense	2/14	-	1
3-135722177-G-C	c.1837G>C	p.G613R	Missense	2/14	-	1
3-135722179-G-A	c.1839G>A	p.G613=	Synonymous	2/14	-	2
3-135722182-C-T	c.1842C>T	p.S614=	Synonymous	2/14	-	1
3-135722186-T-C	c.1846T>C	p.S616P	Missense	2/14	-	1
3-135722193-A-G	c.1853A>G	p.E618G	Missense	2/14	-	1
3-135722198-G-C	c.1858G>C	p.E620Q	Missense	2/14	-	1
3-135722203-G-A	c.1863G>A	p.M621I	Missense	2/14	-	2
3-135722203-G-C	c.1863G>C	p.M621I	Missense	2/14	-	2
3-135722203-G-T	c.1863G>T	p.M621I	Missense	2/14	-	2
3-135722207-C-G	c.1867C>G	p.Q623E	Missense	2/14	-	1
3-135722207-C-T	c.1867C>T	p.Q623*	Nonsense	2/14	-	1
3-135722209-A-G	c.1869A>G	p.Q623=	Synonymous	2/14	-	1
3-135722213-C-A	c.1873C>A	p.L625I	Missense	2/14	-	4
3-135722215-A-G	c.1875A>G	p.L625=	Synonymous	2/14	-	1
3-135722229-C-A	c.1889C>A	p.T630K	Missense	2/14	-	1
3-135722231-ACT-GAG	c.1891_1893delinsGAG	p.T631E	Missense	2/14	-	1
3-135722235-C-T	c.1895C>T	p.S632F	Missense	2/14	-	3
3-135722239-C-A	c.1899C>A	p.S633=	Synonymous	2/14	-	1
3-135722239-C-G	c.1899C>G	p.S633=	Synonymous	2/14	-	1
3-135722239-C-T	c.1899C>T	p.S633=	Synonymous	2/14	-	1
3-135722243-G-C	c.1903G>C	p.A635P	Missense	2/14	-	2
3-135722247-A-C	c.1907A>C	p.N636T	Missense	2/14	-	1
3-135722249-T-G	c.1909T>G	p.L637V	Missense	2/14	-	1
3-135722249-TT-CC	c.1909_1910delinsCC	p.L637P	Missense	2/14	-	1
3-135722250-T-C	c.1910T>C	p.L637S	Missense	2/14	-	1
3-135722253-C-T	c.1913C>T	p.S638L	Missense	2/14	-	1
3-135722254-A-C	c.1914A>C	p.S638=	Synonymous	2/14	-	1
3-135722254-A-G	c.1914A>G	p.S638=	Synonymous	2/14	-	1
3-135722254-A-T	c.1914A>T	p.S638=	Synonymous	2/14	-	2
3-135722263-A-C	c.1923A>C	p.R641S	Missense	2/14	-	1
3-135722263-A-T	c.1923A>T	p.R641S	Missense	2/14	-	1
3-135722264-A-G	c.1924A>G	p.S642G	Missense	2/14	-	28
3-135722266-T-C	c.1926T>C	p.S642=	Synonymous	2/14	-	2
3-135722268-C-T	c.1928C>T	p.P643L	Missense	2/14	-	5
3-135722274-GT-AG	c.1934_1935delinsAG	p.G645E	Missense	2/14	-	1
3-135722278-T-G	c.1938T>G	p.D646E	Missense	2/14	-	2
3-135722282-G-C	c.1942G>C	p.A648P	Missense	2/14	-	1
3-135722288-G-T	c.1948G>T	p.D650Y	Missense	2/14	-	1
3-135722289-A-G	c.1949A>G	p.D650G	Missense	2/14	-	1
3-135722291-A-T	c.1951A>T	p.T651S	Missense	2/14	-	2
3-135722292-C-G	c.1952C>G	p.T651S	Missense	2/14	-	2
3-135722298-C-T	c.1958C>T	p.S653L	Missense	2/14	-	2
3-135722301-C-T	c.1961C>T	p.A654V	Missense	2/14	-	1
3-135722305-T-A	c.1965T>A	p.V655=	Synonymous	2/14	-	1
3-135722305-T-C	c.1965T>C	p.V655=	Synonymous	2/14	-	1
3-135722305-T-G	c.1965T>G	p.V655=	Synonymous	2/14	-	1
3-135722307-T-C	c.1967T>C	p.L656S	Missense	2/14	-	1
3-135722308-G-C	c.1968G>C	p.L656F	Missense	2/14	-	1
3-135722308-G-T	c.1968G>T	p.L656F	Missense	2/14	-	1
3-135722316-CA-C	c.1976del	p.Q659Rfs*5	Frameshift	2/14	-	1
3-135722317-G-A	c.1977G>A	p.Q659=	Synonymous	2/14	-	2
3-135722321-C-A	c.1981C>A	p.P661T	Missense	2/14	-	1
3-135722322-C-T	c.1982C>T	p.P661L	Missense	2/14	-	2
3-135722324-G-A	c.1984G>A	p.E662K	Missense	2/14	-	1
3-135722332-C-A	c.1992C>A	p.I664=	Synonymous	2/14	-	1
3-135722332-C-T	c.1992C>T	p.I664=	Synonymous	2/14	-	1
3-135722409-A-C	c.1995+74A>C	-	IntronicSNV	-	2/13	1
3-135723131-G-A	c.1995+796G>A	-	IntronicSNV	-	2/13	1
3-135731449-GA-G	c.1995+9124del	-	IntronicDeletion	-	2/13	1
3-135731473-C-A	c.1995+9138C>A	-	IntronicSNV	-	2/13	1
3-135732030-A-G	c.1995+9695A>G	-	IntronicSNV	-	2/13	1
3-135741565-A-G	c.1996-4109A>G	-	IntronicSNV	-	2/13	2
3-135741604-C-G	c.1996-4070C>G	-	IntronicSNV	-	2/13	1
3-135741875-G-T	c.1996-3799G>T	-	IntronicSNV	-	2/13	1
3-135741963-C-T	c.1996-3711C>T	-	IntronicSNV	-	2/13	1
3-135742057-G-GGTTTT	c.1996-3617_1996-3616insGTTTT	-	IntronicInsertion	-	2/13	3
3-135742341-T-C	c.1996-3333T>C	-	IntronicSNV	-	2/13	1
3-135745689-G-A	c.2011G>A	p.E671K	Missense	3/14	-	2
3-135745694-G-C	c.2016G>C	p.K672N	Missense	3/14	-	1
3-135745694-G-T	c.2016G>T	p.K672N	Missense	3/14	-	1
3-135745695-A-G	c.2017A>G	p.K673E	Missense	3/14	-	2
3-135745696-A-C	c.2018A>C	p.K673T	Missense	3/14	-	1
3-135745697-A-G	c.2019A>G	p.K673=	Synonymous	3/14	-	2
3-135745698-C-T	c.2020C>T	p.P674S	Missense	3/14	-	1
3-135745699-C-T	c.2021C>T	p.P674L	Missense	3/14	-	2
3-135745702-G-T	c.2024G>T	p.G675V	Missense	3/14	-	1
3-135745705-C-T	c.2027C>T	p.T676I	Missense	3/14	-	7
3-135745712-C-T	c.2034C>T	p.L678=	Synonymous	3/14	-	1
3-135745717-C-T	c.2039C>T	p.P680L	Missense	3/14	-	1
3-135745718-T-A	c.2040T>A	p.P680=	Synonymous	3/14	-	1
3-135745718-T-C	c.2040T>C	p.P680=	Synonymous	3/14	-	1
3-135745718-T-G	c.2040T>G	p.P680=	Synonymous	3/14	-	1
3-135745719-C-T	c.2041C>T	p.P681S	Missense	3/14	-	1
3-135745720-C-G	c.2042C>G	p.P681R	Missense	3/14	-	1
3-135745725-AC-TG	c.2047_2048delinsTG	p.T683C	Missense	3/14	-	1
3-135745727-C-A	c.2049C>A	p.T683=	Synonymous	3/14	-	1
3-135745729-C-T	c.2051C>T	p.S684F	Missense	3/14	-	4
3-135745731-C-T	c.2053C>T	p.P685S	Missense	3/14	-	1
3-135745739-T-C	c.2061T>C	p.S687=	Synonymous	3/14	-	1
3-135745741-C-A	c.2063C>A	p.P688H	Missense	3/14	-	1
3-135745743-C-T	c.2065C>T	p.R689*	Nonsense	3/14	-	2
3-135745744-G-A	c.2066G>A	p.R689Q	Missense	3/14	-	1
3-135745749-C-T	c.2071C>T	p.L691F	Missense	3/14	-	1
3-135745753-C-T	c.2075C>T	p.S692F	Missense	3/14	-	1
3-135745754-C-A	c.2076C>A	p.S692=	Synonymous	3/14	-	1
3-135745754-C-G	c.2076C>G	p.S692=	Synonymous	3/14	-	1
3-135745754-C-T	c.2076C>T	p.S692=	Synonymous	3/14	-	2
3-135745755-C-T	c.2077C>T	p.P693S	Missense	3/14	-	5
3-135745756-C-G	c.2078C>G	p.P693R	Missense	3/14	-	1
3-135745757-G-A	c.2079G>A	p.P693=	Synonymous	3/14	-	1
3-135745757-G-C	c.2079G>C	p.P693=	Synonymous	3/14	-	1
3-135745757-G-T	c.2079G>T	p.P693=	Synonymous	3/14	-	1
3-135745761-C-T	c.2083C>T	p.P695S	Missense	3/14	-	6
3-135745762-C-T	c.2084C>T	p.P695L	Missense	3/14	-	10
3-135745764-C-T	c.2086C>T	p.H696Y	Missense	3/14	-	5
3-135745765-A-G	c.2087A>G	p.H696R	Missense	3/14	-	1
3-135745766-T-C	c.2088T>C	p.H696=	Synonymous	3/14	-	1
3-135745769-G-A	c.2091G>A	p.V697=	Synonymous	3/14	-	1
3-135745771-A-G	c.2093A>G	p.N698S	Missense	3/14	-	1
3-135745777-T-C	c.2099T>C	p.V700A	Missense	3/14	-	1
3-135745786-C-T	c.2108C>T	p.A703V	Missense	3/14	-	5
3-135745789-C-T	c.2111C>T	p.P704L	Missense	3/14	-	1
3-135745795-C-T	c.2117C>T	p.S706F	Missense	3/14	-	1
3-135745805-T-G	c.2127T>G	p.I709M	Missense	3/14	-	2
3-135745807-C-T	c.2129C>T	p.P710L	Missense	3/14	-	2
3-135745810-G-A	c.2132G>A	p.R711Q	Missense	3/14	-	5
3-135745810-G-C	c.2132G>C	p.R711P	Missense	3/14	-	1
3-135745814-C-T	c.2136C>T	p.F712=	Synonymous	3/14	-	1
3-135745824-G-A	c.2146G>A	p.E716K	Missense	3/14	-	1
3-135745826-A-T	c.2148A>T	p.E716D	Missense	3/14	-	1
3-135745827-G-A	c.2149G>A	p.G717R	Missense	3/14	-	1
3-135745827-G-C	c.2149G>C	p.G717R	Missense	3/14	-	1
3-135745828-G-T	c.2150G>T	p.G717V	Missense	3/14	-	1
3-135745845-A-T	c.2167A>T	p.S723C	Missense	3/14	-	1
3-135745845-A-C	c.2167A>C	p.S723R	Missense	3/14	-	3
3-135745847-T-A	c.2169T>A	p.S723R	Missense	3/14	-	4
3-135745847-T-G	c.2169T>G	p.S723R	Missense	3/14	-	3
3-135745857-C-A	c.2179C>A	p.Q727K	Missense	3/14	-	1
3-135745858-A-T	c.2180A>T	p.Q727L	Missense	3/14	-	1
3-135745859-A-C	c.2181A>C	p.Q727H	Missense	3/14	-	1
3-135745859-A-T	c.2181A>T	p.Q727H	Missense	3/14	-	1
3-135745860-A-C	c.2182A>C	p.T728P	Missense	3/14	-	1
3-135745863-C-G	c.2185C>G	p.L729V	Missense	3/14	-	1
3-135745863-C-CT	c.2186dup	p.S730Kfs*4	Frameshift	3/14	-	1
3-135745870-G-A	c.2192G>A	p.R731K	Missense	3/14	-	4
3-135745884-T-C	c.2206T>C	p.F736L	Missense	3/14	-	1
3-135745886-C-A	c.2208C>A	p.F736L	Missense	3/14	-	1
3-135745886-C-G	c.2208C>G	p.F736L	Missense	3/14	-	1
3-135745890-G-A	c.2212G>A	p.D738N	Missense	3/14	-	1
3-135745891-A-G	c.2213A>G	p.D738G	Missense	3/14	-	1
3-135745894-T-A	c.2216T>A	p.I739N	Missense	3/14	-	1
3-135745911-G-A	c.2233G>A	p.D745N	Missense	3/14	-	9
3-135745926-G-A	c.2248G>A	p.G750R	Missense	3/14	-	1
3-135745926-G-C	c.2248G>C	p.G750R	Missense	3/14	-	1
3-135745931-A-C	c.2253A>C	p.K751N	Missense	3/14	-	1
3-135745931-A-G	c.2253A>G	p.K751=	Synonymous	3/14	-	1
3-135745931-A-T	c.2253A>T	p.K751N	Missense	3/14	-	1
3-135745928-GA-G	c.2254del	p.I752Lfs*27	Frameshift	3/14	-	1
3-135745932-A-C	c.2254A>C	p.I752L	Missense	3/14	-	1
3-135745935-G-A	c.2257G>A	p.A753T	Missense	3/14	-	2
3-135745937-A-C	c.2259A>C	p.A753=	Synonymous	3/14	-	1
3-135745937-A-G	c.2259A>G	p.A753=	Synonymous	3/14	-	1
3-135745937-A-T	c.2259A>T	p.A753=	Synonymous	3/14	-	1
3-135745941-G-A	c.2262+1G>A	-	IntronicSNV	-	3/13	1
3-135746359-T-TA	c.2262+422dup	-	IntronicInsertion	-	3/13	1
3-135759544-C-CATAG	c.2263-157_2263-156insATAG	-	IntronicInsertion	-	3/13	1
3-135759544-C-CGTAG	c.2263-157_2263-156insGTAG	-	IntronicInsertion	-	3/13	1
3-135759669-T-TG	c.2263-30dup	-	IntronicInsertion	-	3/13	4
3-135759708-G-A	c.2270G>A	p.G757D	Missense	4/14	-	1
3-135759711-G-A	c.2273G>A	p.C758Y	Missense	4/14	-	1
3-135759712-T-G	c.2274T>G	p.C758W	Missense	4/14	-	1
3-135759713-C-T	c.2275C>T	p.P759S	Missense	4/14	-	1
3-135759729-C-A	c.2291C>A	p.A764D	Missense	4/14	-	1
3-135759729-C-T	c.2291C>T	p.A764V	Missense	4/14	-	1
3-135759731-CC-TG	c.2293_2294delinsTG	p.P765C	Missense	4/14	-	1
3-135759733-C-G	c.2295C>G	p.P765=	Synonymous	4/14	-	1
3-135759751-G-A	c.2313G>A	p.G771=	Synonymous	4/14	-	1
3-135759751-G-T	c.2313G>T	p.G771=	Synonymous	4/14	-	1
3-135759752-G-A	c.2314G>A	p.G772R	Missense	4/14	-	1
3-135759752-G-C	c.2314G>C	p.G772R	Missense	4/14	-	1
3-135759754-A-G	c.2316A>G	p.G772=	Synonymous	4/14	-	1
3-135759755-G-A	c.2317G>A	p.E773K	Missense	4/14	-	1
3-135759755-G-C	c.2317G>C	p.E773Q	Missense	4/14	-	1
3-135759755-G-T	c.2317G>T	p.E773*	Nonsense	4/14	-	1
3-135759757-G-C	c.2319G>C	p.E773D	Missense	4/14	-	1
3-135759757-G-T	c.2319G>T	p.E773D	Missense	4/14	-	1
3-135759763-A-T	c.2325A>T	p.T775=	Synonymous	4/14	-	1
3-135759764-G-A	c.2326G>A	p.G776R	Missense	4/14	-	1
3-135759764-G-C	c.2326G>C	p.G776R	Missense	4/14	-	1
3-135759765-G-A	c.2327G>A	p.G776E	Missense	4/14	-	1
3-135759778-A-C	c.2340A>C	p.A780=	Synonymous	4/14	-	1
3-135759778-A-G	c.2340A>G	p.A780=	Synonymous	4/14	-	1
3-135759778-A-T	c.2340A>T	p.A780=	Synonymous	4/14	-	1
3-135759780-A-T	c.2342A>T	p.Q781L	Missense	4/14	-	4
3-135759782-T-C	c.2344T>C	p.S782P	Missense	4/14	-	1
3-135759787-C-T	c.2349C>T	p.F783=	Synonymous	4/14	-	1
3-135759799-G-C	c.2361G>C	p.W787C	Missense	4/14	-	1
3-135759799-G-T	c.2361G>T	p.W787C	Missense	4/14	-	1
3-135759801-GAA-G	c.2365_2366del	p.K789Vfs*4	SpliceDonorDeletion	4/14	-	1
3-135759804-A-C	c.2366A>C	p.K789T	Missense	4/14	-	1
3-135760077-C-T	c.2366+273C>T	-	IntronicSNV	-	4/13	1
3-135760080-G-T	c.2366+276G>T	-	IntronicSNV	-	4/13	1
3-135760092-G-T	c.2366+288G>T	-	IntronicSNV	-	4/13	1
3-135760093-T-G	c.2366+289T>G	-	IntronicSNV	-	4/13	1
3-135768101-G-C	c.2367G>C	p.K789N	Missense	5/14	-	3
3-135768131-T-A	c.2397T>A	p.S799=	Synonymous	5/14	-	2
3-135768137-C-T	c.2403C>T	p.F801=	Synonymous	5/14	-	1
3-135768155-G-C	c.2421G>C	p.K807N	Missense	5/14	-	1
3-135768155-G-T	c.2421G>T	p.K807N	Missense	5/14	-	1
3-135768157-C-T	c.2423C>T	p.P808L	Missense	5/14	-	2
3-135768162-T-G	c.2428T>G	p.C810G	Missense	5/14	-	1
3-135768171-C-T	c.2437C>T	p.L813=	Synonymous	5/14	-	1
3-135768173-A-C	c.2439A>C	p.L813=	Synonymous	5/14	-	1
3-135768173-A-G	c.2439A>G	p.L813=	Synonymous	5/14	-	1
3-135768173-A-T	c.2439A>T	p.L813=	Synonymous	5/14	-	1
3-135768180-G-A	c.2446G>A	p.E816K	Missense	5/14	-	1
3-135768188-C-G	c.2454C>G	p.F818L	Missense	5/14	-	1
3-135768195-C-A	c.2461C>A	p.L821I	Missense	5/14	-	1
3-135768195-C-G	c.2461C>G	p.L821V	Missense	5/14	-	1
3-135768201-C-G	c.2467C>G	p.Q823E	Missense	5/14	-	1
3-135768232-T-A	c.2469+29T>A	-	IntronicSNV	-	5/13	1
3-135769297-G-A	c.2469+1094G>A	-	IntronicSNV	-	5/13	1
3-135774219-T-C	c.2469+6016T>C	-	IntronicSNV	-	5/13	2
3-135774254-C-G	c.2469+6051C>G	-	IntronicSNV	-	5/13	1
3-135774361-G-A	c.2469+6158G>A	-	IntronicSNV	-	5/13	1
3-135777151-A-G	c.2469+8948A>G	-	IntronicSNV	-	5/13	1
3-135780764-A-C	c.2470-8556A>C	-	IntronicSNV	-	5/13	1
3-135783166-G-A	c.2470-6154G>A	-	IntronicSNV	-	5/13	1
3-135789212-T-C	c.2470-108T>C	-	IntronicSNV	-	5/13	1
3-135789321-A-G	c.2471A>G	p.D824G	Missense	6/14	-	2
3-135789325-G-A	c.2475G>A	p.V825=	Synonymous	6/14	-	1
3-135789331-T-A	c.2481T>A	p.D827E	Missense	6/14	-	1
3-135789331-T-G	c.2481T>G	p.D827E	Missense	6/14	-	1
3-135789332-A-G	c.2482A>G	p.T828A	Missense	6/14	-	1
3-135789333-C-T	c.2483C>T	p.T828I	Missense	6/14	-	1
3-135789344-CTC-ATG	c.2494_2496delinsATG	p.L832M	Missense	6/14	-	1
3-135789348-C-T	c.2498C>T	p.T833M	Missense	6/14	-	1
3-135789353-C-T	c.2503C>T	p.L835=	Synonymous	6/14	-	3
3-135789355-G-A	c.2505G>A	p.L835=	Synonymous	6/14	-	3
3-135789355-G-C	c.2505G>C	p.L835=	Synonymous	6/14	-	3
3-135789355-G-T	c.2505G>T	p.L835=	Synonymous	6/14	-	3
3-135789359-G-A	c.2509G>A	p.D837N	Missense	6/14	-	1
3-135789364-T-C	c.2514T>C	p.A838=	Synonymous	6/14	-	1
3-135789373-C-T	c.2523C>T	p.F841=	Synonymous	6/14	-	1
3-135789376-C-T	c.2526C>T	p.H842=	Synonymous	6/14	-	1
3-135789380-C-T	c.2530C>T	p.R844C	Missense	6/14	-	1
3-135789381-G-A	c.2531G>A	p.R844H	Missense	6/14	-	1
3-135789382-C-CTG	c.2533_2534insGT	p.Y845Cfs*27	Frameshift	6/14	-	1
3-135789384-A-G	c.2534A>G	p.Y845C	Missense	6/14	-	1
3-135789386-A-G	c.2536A>G	p.I846V	Missense	6/14	-	1
3-135789393-C-T	c.2543C>T	p.T848M	Missense	6/14	-	2
3-135790885-C-T	c.2544+1491C>T	-	IntronicSNV	-	6/13	1
3-135794742-G-A	c.2545-2467G>A	-	IntronicSNV	-	6/13	1
3-135794742-G-C	c.2545-2467G>C	-	IntronicSNV	-	6/13	1
3-135795681-T-C	c.2545-1528T>C	-	IntronicSNV	-	6/13	1
3-135795681-T-G	c.2545-1528T>G	-	IntronicSNV	-	6/13	1
3-135796524-G-A	c.2545-685G>A	-	IntronicSNV	-	6/13	1
3-135797206-C-T	c.2545-3C>T	-	IntronicSNV	-	6/13	1
3-135797217-G-A	c.2553G>A	p.Q851=	Synonymous	7/14	-	1
3-135797224-T-C	c.2560T>C	p.F854L	Missense	7/14	-	1
3-135797226-C-A	c.2562C>A	p.F854L	Missense	7/14	-	1
3-135797226-C-G	c.2562C>G	p.F854L	Missense	7/14	-	1
3-135797258-T-A	c.2594T>A	p.I865N	Missense	7/14	-	1
3-135797263-T-G	c.2599T>G	p.S867A	Missense	7/14	-	1
3-135797264-C-T	c.2600C>T	p.S867L	Missense	7/14	-	4
3-135797265-G-A	c.2601G>A	p.S867=	Synonymous	7/14	-	2
3-135797265-G-C	c.2601G>C	p.S867=	Synonymous	7/14	-	2
3-135797265-G-T	c.2601G>T	p.S867=	Synonymous	7/14	-	2
3-135797271-G-A	c.2607G>A	p.E869=	Synonymous	7/14	-	1
3-135797274-A-AT	c.2610_2611insT	p.R871*	Nonsense	7/14	-	1
3-135797276-G-T	c.2612G>T	p.R871I	Missense	7/14	-	1
3-135797286-C-T	c.2622C>T	p.N874=	Synonymous	7/14	-	1
3-135797289-T-C	c.2625T>C	p.F875=	Synonymous	7/14	-	1
3-135797289-T-G	c.2625T>G	p.F875L	Missense	7/14	-	1
3-135797293-C-A	c.2629C>A	p.Q877K	Missense	7/14	-	3
3-135797928-G-A	c.2631+633G>A	-	IntronicSNV	-	7/13	1
3-135797955-C-T	c.2631+660C>T	-	IntronicSNV	-	7/13	1
3-135798258-T-C	c.2631+963T>C	-	IntronicSNV	-	7/13	1
3-135798262-T-C	c.2631+967T>C	-	IntronicSNV	-	7/13	1
3-135798248-ATT-A	c.2631+972_2631+973del	-	IntronicDeletion	-	7/13	1
3-135798248-AT-A	c.2631+973del	-	IntronicDeletion	-	7/13	1
3-135798273-CAG-C	c.2631+981_2631+982del	-	IntronicDeletion	-	7/13	1
3-135798658-C-T	c.2631+1363C>T	-	IntronicSNV	-	7/13	1
3-135798738-T-C	c.2631+1443T>C	-	IntronicSNV	-	7/13	1
3-135801036-C-T	c.2632-71C>T	-	IntronicSNV	-	7/13	1
3-135801115-A-G	c.2640A>G	p.A880=	Synonymous	8/14	-	1
3-135801119-T-G	c.2644T>G	p.L882V	Missense	8/14	-	1
3-135801122-G-A	c.2647G>A	p.E883K	Missense	8/14	-	2
3-135801122-G-C	c.2647G>C	p.E883Q	Missense	8/14	-	1
3-135801132-A-G	c.2657A>G	p.E886G	Missense	8/14	-	1
3-135801134-G-A	c.2659G>A	p.D887N	Missense	8/14	-	1
3-135801134-G-C	c.2659G>C	p.D887H	Missense	8/14	-	1
3-135801145-A-G	c.2670A>G	p.Q890=	Synonymous	8/14	-	1
3-135801150-CA-TG	c.2675_2676inv	p.T892M	Missense	8/14	-	1
3-135801154-T-C	c.2679T>C	p.D893=	Synonymous	8/14	-	1
3-135801158-T-C	c.2683T>C	p.F895L	Missense	8/14	-	1
3-135801160-C-G	c.2685C>G	p.F895L	Missense	8/14	-	1
3-135801160-C-A	c.2685C>A	p.F895L	Missense	8/14	-	2
3-135801162-C-T	c.2687C>T	p.S896F	Missense	8/14	-	2
3-135801163-C-A	c.2688C>A	p.S896=	Synonymous	8/14	-	2
3-135801163-C-G	c.2688C>G	p.S896=	Synonymous	8/14	-	1
3-135801163-C-T	c.2688C>T	p.S896=	Synonymous	8/14	-	1
3-135801165-A-G	c.2690A>G	p.Y897C	Missense	8/14	-	3
3-135801170-C-T	c.2695C>T	p.H899Y	Missense	8/14	-	1
3-135801191-A-T	c.2716A>T	p.K906*	Nonsense	8/14	-	2
3-135801196-C-G	c.2721C>G	p.F907L	Missense	8/14	-	1
3-135801212-G-A	c.2737G>A	p.D913N	Missense	8/14	-	3
3-135801215-C-T	c.2740C>T	p.H914Y	Missense	8/14	-	2
3-135801217-C-T	c.2742C>T	p.H914=	Synonymous	8/14	-	2
3-135801231-G-A	c.2756G>A	p.S919N	Missense	8/14	-	1
3-135801233-C-T	c.2758C>T	p.Q920*	Nonsense	8/14	-	2
3-135801239-G-A	c.2764G>A	p.D922N	Missense	8/14	-	2
3-135801239-G-T	c.2764G>T	p.D922Y	Missense	8/14	-	1
3-135801242-C-A	c.2767C>A	p.L923M	Missense	8/14	-	1
3-135801246-C-T	c.2771C>T	p.S924F	Missense	8/14	-	4
3-135801248-C-G	c.2773C>G	p.R925G	Missense	8/14	-	1
3-135801250-A-G	c.2775A>G	p.R925=	Synonymous	8/14	-	4
3-135801256-T-C	c.2781T>C	p.N927=	Synonymous	8/14	-	1
3-135801265-T-A	c.2788+2T>A	-	IntronicSNV	-	8/13	1
3-135804550-T-A	c.2789-2175T>A	-	IntronicSNV	-	8/13	1
3-135804550-T-C	c.2789-2175T>C	-	IntronicSNV	-	8/13	1
3-135806725-C-T	c.2789C>T	p.A930V	Missense	9/14	-	1
3-135806728-C-A	c.2792C>A	p.S931*	Nonsense	9/14	-	2
3-135806728-C-G	c.2792C>G	p.S931*	Nonsense	9/14	-	1
3-135806729-A-G	c.2793A>G	p.S931=	Synonymous	9/14	-	1
3-135806731-C-A	c.2795C>A	p.S932*	Nonsense	9/14	-	1
3-135806731-C-G	c.2795C>G	p.S932*	Nonsense	9/14	-	2
3-135806731-C-T	c.2795C>T	p.S932L	Missense	9/14	-	1
3-135806735-C-T	c.2799C>T	p.S933=	Synonymous	9/14	-	1
3-135806736-A-T	c.2800A>T	p.R934W	Missense	9/14	-	1
3-135806738-G-A	c.2802G>A	p.R934=	Synonymous	9/14	-	1
3-135806742-A-G	c.2806A>G	p.I936V	Missense	9/14	-	1
3-135806745-G-A	c.2809G>A	p.E937K	Missense	9/14	-	1
3-135806745-G-GA	c.2812dup	p.R938Kfs*31	Frameshift	9/14	-	1
3-135806749-G-C	c.2813G>C	p.R938T	Missense	9/14	-	1
3-135806751-A-G	c.2815A>G	p.I939V	Missense	9/14	-	1
3-135806752-T-C	c.2816T>C	p.I939T	Missense	9/14	-	1
3-135806753-A-G	c.2817A>G	p.I939M	Missense	9/14	-	1
3-135806754-T-C	c.2818T>C	p.F940L	Missense	9/14	-	1
3-135806756-C-A	c.2820C>A	p.F940L	Missense	9/14	-	1
3-135806756-C-G	c.2820C>G	p.F940L	Missense	9/14	-	1
3-135806760-G-A	c.2824G>A	p.G942S	Missense	9/14	-	1
3-135806764-C-T	c.2828C>T	p.A943V	Missense	9/14	-	2
3-135806771-A-G	c.2835A>G	p.T945=	Synonymous	9/14	-	2
3-135806811-A-G	c.2837+38A>G	-	IntronicSNV	-	9/13	3
3-135808298-C-A	c.2838-1122C>A	-	IntronicSNV	-	9/13	1
3-135806772-A-C	c.2836A>C	p.R946=	Synonymous	9/14	-	1
3-135809420-G-A	c.2838G>A	p.R946=	Synonymous	10/14	-	1
3-135809422-G-A	c.2840G>A	p.G947E	Missense	10/14	-	1
3-135809428-C-G	c.2846C>G	p.T949R	Missense	10/14	-	2
3-135809438-A-AT	c.2856_2857insT	p.E953*	Nonsense	10/14	-	1
3-135809448-A-T	c.2866A>T	p.M956L	Missense	10/14	-	1
3-135809453-C-T	c.2871C>T	p.S957=	Synonymous	10/14	-	1
3-135809480-C-A	c.2898C>A	p.I966=	Synonymous	10/14	-	1
3-135809482-C-G	c.2900C>G	p.S967C	Missense	10/14	-	1
3-135809482-C-T	c.2900C>T	p.S967F	Missense	10/14	-	2
3-135809486-A-G	c.2904A>G	p.E968=	Synonymous	10/14	-	3
3-135809490-G-A	c.2908G>A	p.D970N	Missense	10/14	-	2
3-135809502-C-G	c.2920C>G	p.P974A	Missense	10/14	-	2
3-135809514-G-A	c.2927+5G>A	-	IntronicSNV	-	10/13	1
3-135809654-C-A	c.2927+145C>A	-	IntronicSNV	-	10/13	1
3-135811619-A-G	c.2927+2110A>G	-	IntronicSNV	-	10/13	1
3-135811618-GA-G	c.2927+2117del	-	IntronicDeletion	-	10/13	1
3-135812418-TA-T	c.2927+2915del	-	IntronicDeletion	-	10/13	1
3-135814009-G-A	c.2927+4500G>A	-	IntronicSNV	-	10/13	5
3-135814009-G-C	c.2927+4500G>C	-	IntronicSNV	-	10/13	5
3-135820806-G-A	c.2928-43G>A	-	IntronicSNV	-	10/13	1
3-135820852-T-A	c.2931T>A	p.I977=	Synonymous	11/14	-	1
3-135820852-T-C	c.2931T>C	p.I977=	Synonymous	11/14	-	1
3-135820862-T-C	c.2941T>C	p.F981L	Missense	11/14	-	1
3-135820865-C-T	c.2944C>T	p.R982C	Missense	11/14	-	3
3-135820882-TG-T	c.2963del	p.G988Efs*41	Frameshift	11/14	-	1
3-135820886-G-T	c.2965G>T	p.D989Y	Missense	11/14	-	1
3-135820888-C-T	c.2967C>T	p.D989=	Synonymous	11/14	-	2
3-135820889-G-A	c.2968G>A	p.G990S	Missense	11/14	-	2
3-135820893-T-C	c.2972T>C	p.V991A	Missense	11/14	-	1
3-135820897-C-T	c.2976C>T	p.L992=	Synonymous	11/14	-	4
3-135820905-A-G	c.2984A>G	p.Y995C	Missense	11/14	-	1
3-135820907-G-A	c.2986G>A	p.E996K	Missense	11/14	-	1
3-135820908-A-T	c.2987A>T	p.E996V	Missense	11/14	-	2
3-135820919-T-C	c.2998T>C	p.F1000L	Missense	11/14	-	2
3-135820921-C-A	c.3000C>A	p.F1000L	Missense	11/14	-	2
3-135820921-C-G	c.3000C>G	p.F1000L	Missense	11/14	-	2
3-135820922-T-C	c.3001T>C	p.Y1001H	Missense	11/14	-	3
3-135820940-C-A	c.3019C>A	p.R1007=	Synonymous	11/14	-	1
3-135820940-CG-AT	c.3019_3020delinsAT	p.R1007M	Missense	11/14	-	1
3-135820942-G-A	c.3021G>A	p.R1007=	Synonymous	11/14	-	1
3-135820942-G-C	c.3021G>C	p.R1007=	Synonymous	11/14	-	1
3-135820942-G-T	c.3021G>T	p.R1007=	Synonymous	11/14	-	1
3-135820941-G-T	c.3020G>T	p.R1007L	Missense	11/14	-	1
3-135820943-A-C	c.3022A>C	p.M1008L	Missense	11/14	-	1
3-135820943-A-T	c.3022A>T	p.M1008L	Missense	11/14	-	1
3-135820950-C-T	c.3029C>T	p.A1010V	Missense	11/14	-	2
3-135820952-A-G	c.3031A>G	p.M1011V	Missense	11/14	-	2
3-135820964-C-T	c.3043C>T	p.P1015S	Missense	11/14	-	2
3-135821000-G-C	c.3079G>C	p.D1027H	Missense	11/14	-	1
3-135821023-T-A	c.3102T>A	p.D1034E	Missense	11/14	-	1
3-135821023-T-G	c.3102T>G	p.D1034E	Missense	11/14	-	1
3-135822106-T-C	c.3110T>C	p.I1037T	Missense	12/14	-	1
3-135822112-T-G	c.3116T>G	p.L1039R	Missense	12/14	-	1
3-135822122-G-A	c.3126G>A	p.L1042=	Synonymous	12/14	-	1
3-135822127-G-A	c.3131G>A	p.R1044K	Missense	12/14	-	1
3-135822133-G-T	c.3137G>T	p.R1046I	Missense	12/14	-	1
3-135822134-A-T	c.3138A>T	p.R1046S	Missense	12/14	-	1
3-135822139-C-T	c.3143C>T	p.A1048V	Missense	12/14	-	1
3-135822143-C-T	c.3147C>T	p.H1049=	Synonymous	12/14	-	1
3-135822146-C-A	c.3150C>A	p.I1050=	Synonymous	12/14	-	1
3-135822146-C-T	c.3150C>T	p.I1050=	Synonymous	12/14	-	2
3-135822151-A-G	c.3155A>G	p.Y1052C	Missense	12/14	-	1
3-135822153-G-A	c.3157G>A	p.D1053N	Missense	12/14	-	1
3-135822159-T-C	c.3163T>C	p.F1055L	Missense	12/14	-	2
3-135822161-C-G	c.3165C>G	p.F1055L	Missense	12/14	-	2
3-135822161-C-A	c.3165C>A	p.F1055L	Missense	12/14	-	3
3-135822173-G-A	c.3177G>A	p.E1059=	Synonymous	12/14	-	1
3-135822184-A-G	c.3188A>G	p.D1063G	Missense	12/14	-	1
3-135822199-A-T	c.3203A>T	p.D1068V	Missense	12/14	-	1
3-135822201-C-T	c.3205C>T	p.P1069S	Missense	12/14	-	1
3-135822204-CTTT-C	c.3208_3210del	p.F1070del	InFrameDeletion	12/14	-	1
3-135822208-C-T	c.3212C>T	p.A1071V	Missense	12/14	-	1
3-135822209-G-A	c.3213G>A	p.A1071=	Synonymous	12/14	-	1
3-135822209-G-C	c.3213G>C	p.A1071=	Synonymous	12/14	-	1
3-135822209-G-T	c.3213G>T	p.A1071=	Synonymous	12/14	-	1
3-135822212-C-T	c.3216C>T	p.V1072=	Synonymous	12/14	-	1
3-135822213-C-T	c.3217C>T	p.Q1073*	Nonsense	12/14	-	1
3-135822215-G-C	c.3219G>C	p.Q1073H	Missense	12/14	-	1
3-135822215-G-T	c.3219G>T	p.Q1073H	Missense	12/14	-	1
3-135822219-G-A	c.3222+1G>A	-	IntronicSNV	-	12/13	1
3-135824901-C-A	c.3223-157C>A	-	IntronicSNV	-	12/13	1
3-135825050-C-CCAAT	c.3223-5_3223-2dup	-	SpliceAcceptorInsertion	-	12/13	2
3-135825058-G-A	c.3223G>A	p.D1075N	Missense	13/14	-	1
3-135825061-G-T	c.3226G>T	p.V1076F	Missense	13/14	-	2
3-135825062-T-C	c.3227T>C	p.V1076A	Missense	13/14	-	1
3-135825064-G-A	c.3229G>A	p.E1077K	Missense	13/14	-	1
3-135825064-G-C	c.3229G>C	p.E1077Q	Missense	13/14	-	5
3-135825069-C-T	c.3234C>T	p.N1078=	Synonymous	13/14	-	4
3-135825082-C-T	c.3247C>T	p.P1083S	Missense	13/14	-	1
3-135825086-C-T	c.3251C>T	p.S1084L	Missense	13/14	-	3
3-135825088-G-C	c.3253G>C	p.D1085H	Missense	13/14	-	1
3-135825091-T-A	c.3256T>A	p.W1086R	Missense	13/14	-	2
3-135825091-T-C	c.3256T>C	p.W1086R	Missense	13/14	-	1
3-135825092-G-A	c.3257G>A	p.W1086*	Nonsense	13/14	-	1
3-135825093-G-A	c.3258G>A	p.W1086*	Nonsense	13/14	-	3
3-135825098-G-A	c.3263G>A	p.R1088Q	Missense	13/14	-	3
3-135825100-T-A	c.3265T>A	p.F1089I	Missense	13/14	-	3
3-135825100-T-C	c.3265T>C	p.F1089L	Missense	13/14	-	1
3-135825102-T-A	c.3267T>A	p.F1089L	Missense	13/14	-	1
3-135825102-T-G	c.3267T>G	p.F1089L	Missense	13/14	-	1
3-135825104-C-G	c.3269C>G	p.A1090G	Missense	13/14	-	1
3-135825104-C-T	c.3269C>T	p.A1090V	Missense	13/14	-	1
3-135825106-G-A	c.3271G>A	p.A1091T	Missense	13/14	-	1
3-135825107-C-T	c.3272C>T	p.A1091V	Missense	13/14	-	1
3-135825108-T-A	c.3273T>A	p.A1091=	Synonymous	13/14	-	1
3-135825108-T-C	c.3273T>C	p.A1091=	Synonymous	13/14	-	2
3-135825108-T-G	c.3273T>G	p.A1091=	Synonymous	13/14	-	1
3-135825109-G-A	c.3274G>A	p.E1092K	Missense	13/14	-	1
3-135825112-G-A	c.3277G>A	p.E1093K	Missense	13/14	-	4
3-135825114-G-A	c.3279G>A	p.E1093=	Synonymous	13/14	-	4
3-135825114-G-T	c.3279G>T	p.E1093D	Missense	13/14	-	1
3-135825118-G-C	c.3283G>C	p.E1095Q	Missense	13/14	-	1
3-135825119-A-G	c.3284A>G	p.E1095G	Missense	13/14	-	1
3-135825120-G-A	c.3285G>A	p.E1095=	Synonymous	13/14	-	4
3-135825122-C-T	c.3287C>T	p.T1096M	Missense	13/14	-	1
3-135825128-T-C	c.3293T>C	p.V1098A	Missense	13/14	-	1
3-135825130-G-A	c.3295G>A	p.A1099T	Missense	13/14	-	1
3-135825133-G-A	c.3298G>A	p.E1100K	Missense	13/14	-	1
3-135825137-A-C	c.3302A>C	p.E1101A	Missense	13/14	-	1
3-135825137-A-G	c.3302A>G	p.E1101G	Missense	13/14	-	2
3-135825144-C-A	c.3309C>A	p.A1103=	Synonymous	13/14	-	1
3-135825144-C-G	c.3309C>G	p.A1103=	Synonymous	13/14	-	1
3-135825144-C-T	c.3309C>T	p.A1103=	Synonymous	13/14	-	1
3-135825145-C-T	c.3310C>T	p.Q1104*	Nonsense	13/14	-	1
3-135825147-A-G	c.3312A>G	p.Q1104=	Synonymous	13/14	-	1
3-135825163-G-A	c.3328G>A	p.G1110S	Missense	13/14	-	1
3-135825163-G-T	c.3328G>T	p.G1110C	Missense	13/14	-	1
3-135825171-A-G	c.3329+7A>G	-	IntronicSNV	-	13/13	1
3-135825267-G-A	c.3329+103G>A	-	IntronicSNV	-	13/13	1
3-135825397-G-A	c.3329+233G>A	-	IntronicSNV	-	13/13	1
3-135827277-CA-C	c.3329+2120del	-	IntronicDeletion	-	13/13	1
3-135827542-T-C	c.3329+2378T>C	-	IntronicSNV	-	13/13	1
3-135827542-T-G	c.3329+2378T>G	-	IntronicSNV	-	13/13	1
3-135827541-GT-G	c.3329+2387del	-	IntronicDeletion	-	13/13	1
3-135831961-GA-G	c.3329+6807del	-	IntronicDeletion	-	13/13	1
3-135833005-A-C	c.3329+7841A>C	-	IntronicSNV	-	13/13	1
3-135833005-A-G	c.3329+7841A>G	-	IntronicSNV	-	13/13	1
3-135838598-T-G	c.3329+13434T>G	-	IntronicSNV	-	13/13	3
3-135839430-CA-C	c.3329+14276del	-	IntronicDeletion	-	13/13	1
3-135839761-TA-T	c.3329+14606del	-	IntronicDeletion	-	13/13	1
3-135841460-A-G	c.3329+16296A>G	-	IntronicSNV	-	13/13	1
3-135843162-C-T	c.3329+17998C>T	-	IntronicSNV	-	13/13	1
3-135851006-A-T	c.3330-12879A>T	-	IntronicSNV	-	13/13	1
3-135854035-C-A	c.3330-9850C>A	-	IntronicSNV	-	13/13	1
3-135856318-T-A	c.3330-7567T>A	-	IntronicSNV	-	13/13	1
3-135858924-G-T	c.3330-4961G>T	-	IntronicSNV	-	13/13	1
3-135863893-A-G	c.3338A>G	p.D1113G	Missense	14/14	-	1
3-135863894-T-C	c.3339T>C	p.D1113=	Synonymous	14/14	-	1
3-135863899-A-G	c.3344A>G	p.E1115G	Missense	14/14	-	1
3-135863904-G-C	c.3349G>C	p.D1117H	Missense	14/14	-	1
3-135863904-G-T	c.3349G>T	p.D1117Y	Missense	14/14	-	1
3-135863904-G-GATGA	c.3351_3354dup	p.P1119*	Nonsense	14/14	-	1
3-135863909-A-C	c.3354A>C	p.E1118D	Missense	14/14	-	2
3-135863909-A-T	c.3354A>T	p.E1118D	Missense	14/14	-	3
3-135863911-C-T	c.3356C>T	p.P1119L	Missense	14/14	-	1
3-135863912-T-A	c.3357T>A	p.P1119=	Synonymous	14/14	-	1
3-135863912-T-C	c.3357T>C	p.P1119=	Synonymous	14/14	-	1
3-135863912-T-G	c.3357T>G	p.P1119=	Synonymous	14/14	-	1
3-135863914-C-T	c.3359C>T	p.A1120V	Missense	14/14	-	1
3-135863917-C-G	c.3362C>G	p.S1121C	Missense	14/14	-	1
3-135863920-C-T	c.3365C>T	p.P1122L	Missense	14/14	-	2
3-135863921-C-A	c.3366C>A	p.P1122=	Synonymous	14/14	-	2
3-135863925-G-A	c.3370G>A	p.E1124K	Missense	14/14	-	1
3-135863925-G-C	c.3370G>C	p.E1124Q	Missense	14/14	-	4
3-135863929-T-G	c.3374T>G	p.F1125C	Missense	14/14	-	1
3-135863933-AAAC-A	c.3381_3383del	p.N1127del	InFrameDeletion	14/14	-	1
3-135863937-A-G	c.3382A>G	p.K1128E	Missense	14/14	-	1
3-135863954-A-G	c.3399A>G	p.L1133=	Synonymous	14/14	-	2
3-135863964-C-A	c.3409C>A	p.L1137I	Missense	14/14	-	1
3-135863964-C-T	c.3409C>T	p.L1137F	Missense	14/14	-	1
3-135863965-T-C	c.3410T>C	p.L1137P	Missense	14/14	-	6
3-135863966-T-A	c.3411T>A	p.L1137=	Synonymous	14/14	-	1
3-135863966-T-C	c.3411T>C	p.L1137=	Synonymous	14/14	-	1
3-135863966-T-G	c.3411T>G	p.L1137=	Synonymous	14/14	-	1
3-135863971-A-G	c.3416A>G	p.E1139G	Missense	14/14	-	1
3-135863972-G-A	c.3417G>A	p.E1139=	Synonymous	14/14	-	2
3-135863975-A-T	c.3420A>T	p.K1140N	Missense	14/14	-	1
3-135863977-G-A	c.3422G>A	p.C1141Y	Missense	14/14	-	1
3-135863979-G-A	c.3424G>A	p.G1142R	Missense	14/14	-	1
3-135863979-G-C	c.3424G>C	p.G1142R	Missense	14/14	-	1
3-135863984-G-C	c.3429G>C	p.K1143N	Missense	14/14	-	1
3-135863984-G-T	c.3429G>T	p.K1143N	Missense	14/14	-	1
3-135863988-C-A	c.3433C>A	p.Q1145K	Missense	14/14	-	1
3-135863992-C-A	c.3437C>A	p.S1146*	Nonsense	14/14	-	1
3-135863996-G-T	c.3441G>T	p.V1147=	Synonymous	14/14	-	1
3-135864031-G-A	c.*23G>A	-	3-UTRSNV	14/14	-	1
3-135864031-G-C	c.*23G>C	-	3-UTRSNV	14/14	-	1
3-135864775-T-C	c.*767T>C	-	3-UTRSNV	14/14	-	1